|
NM_000552.5(VWF):c.4641T>C (p.Thr1547=)
|
rs216310
|
0.71518
|
|
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)
|
rs35947132
|
0.02791
|
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
|
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
|
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)
|
rs193922854
|
0.00873
|
|
NM_001457.4(FLNB):c.3724+13_3724+15del
|
rs773897420
|
0.00809
|
|
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=)
|
rs78926093
|
0.00784
|
|
NM_000298.6(PKLR):c.1269+43T>C
|
rs8177982
|
0.00718
|
|
NM_001130987.2(DYSF):c.*107T>A
|
rs11903223
|
0.00707
|
|
NM_000019.4(ACAT1):c.941-14C>T
|
rs12801620
|
0.00658
|
|
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr)
|
rs4547
|
0.00598
|
|
NM_052945.4(TNFRSF13C):c.475C>T (p.His159Tyr)
|
rs61756766
|
0.00573
|
|
NM_000515.5(GH1):c.406G>A (p.Val136Ile)
|
rs5388
|
0.00560
|
|
NM_000885.6(ITGA4):c.2471T>C (p.Val824Ala)
|
rs1143675
|
0.00556
|
|
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met)
|
rs62073570
|
0.00522
|
|
NM_003748.4(ALDH4A1):c.678+3G>A
|
rs138788183
|
0.00516
|
|
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser)
|
rs116690692
|
0.00511
|
|
NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr)
|
rs139512218
|
0.00510
|
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
|
NM_002658.6(PLAU):c.172G>A (p.Gly58Arg)
|
rs55744193
|
0.00504
|
|
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr)
|
rs45441199
|
0.00494
|
|
NM_014861.4(ATP2C2):c.304G>A (p.Val102Met)
|
rs78887288
|
0.00494
|
|
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met)
|
rs587784372
|
0.00471
|
|
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter)
|
rs35064500
|
0.00470
|
|
NM_005763.4(AASS):c.1678C>T (p.Pro560Ser)
|
rs74882337
|
0.00469
|
|
NM_000407.5(GP1BB):c.399C>T (p.Ala133=)
|
rs142352780
|
0.00467
|
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
|
NM_004826.4(ECEL1):c.155T>C (p.Leu52Pro)
|
rs564717204
|
0.00453
|
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
|
NM_001080414.4(CCDC88C):c.3895C>T (p.Arg1299Cys)
|
rs142539336
|
0.00436
|
|
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln)
|
rs141893504
|
0.00428
|
|
NM_004970.3(IGFALS):c.860C>T (p.Pro287Leu)
|
rs35706152
|
0.00428
|
|
NM_007374.3(SIX6):c.385G>A (p.Glu129Lys)
|
rs146737847
|
0.00428
|
|
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp)
|
rs41273533
|
0.00424
|
|
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_012179.4(FBXO7):c.122+9G>A
|
rs192327462
|
0.00407
|
|
NM_000224.3(KRT18):c.689G>C (p.Ser230Thr)
|
rs58472472
|
0.00405
|
|
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser)
|
rs137876961
|
0.00404
|
|
NM_001916.5(CYC1):c.227T>C (p.Met76Thr)
|
rs144257411
|
0.00400
|
|
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
|
NM_005589.4(ALDH6A1):c.755C>T (p.Pro252Leu)
|
rs139579994
|
0.00398
|
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
|
NM_000081.4(LYST):c.1686G>C (p.Gln562His)
|
rs77091385
|
0.00394
|
|
NM_001102401.4(TTI2):c.1063C>T (p.Arg355Cys)
|
rs138108276
|
0.00392
|
|
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser)
|
rs145613857
|
0.00391
|
|
NM_022134.3(GAL3ST2):c.29+1G>A
|
rs78620448
|
0.00390
|
|
NM_006899.5(IDH3B):c.117+6C>A
|
rs191680997
|
0.00388
|
|
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile)
|
rs61752478
|
0.00384
|
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
|
NM_000130.5(F5):c.4035A>G (p.Gln1345=)
|
rs886045547
|
0.00377
|
|
NM_000782.5(CYP24A1):c.470G>A (p.Arg157Gln)
|
rs35051736
|
0.00377
|
|
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)
|
rs201472270
|
0.00373
|
|
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr)
|
rs58599399
|
0.00373
|
|
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)
|
rs148999583
|
0.00372
|
|
NM_001206979.2(NR1H4):c.518T>C (p.Met173Thr)
|
rs61755050
|
0.00371
|
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
|
NM_173648.4(CCDC141):c.2299G>A (p.Asp767Asn)
|
rs141939661
|
0.00367
|
|
NM_001067.4(TOP2A):c.1737+5G>A
|
rs140672916
|
0.00360
|
|
NM_001813.3(CENPE):c.4791A>C (p.Arg1597Ser)
|
rs61751594
|
0.00360
|
|
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys)
|
rs146569520
|
0.00359
|
|
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)
|
rs34491822
|
0.00357
|
|
NM_001379180.1(ESRRB):c.*1474T>C
|
rs188462546
|
0.00354
|
|
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)
|
rs145910245
|
0.00349
|
|
NM_001723.7(DST):c.3336G>C (p.Glu1112Asp)
|
rs34767818
|
0.00349
|
|
NM_001098816.3(TENM4):c.2804C>G (p.Pro935Arg)
|
rs141706152
|
0.00347
|
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
|
NM_032608.7(MYO18B):c.7147C>T (p.Arg2383Trp)
|
rs192639023
|
0.00345
|
|
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)
|
rs201370621
|
0.00344
|
|
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys)
|
rs139161034
|
0.00343
|
|
NM_006059.4(LAMC3):c.2891-8C>T
|
rs199535979
|
0.00339
|
|
NM_021870.3(FGG):c.571G>A (p.Gly191Arg)
|
rs6063
|
0.00339
|
|
NM_000527.4(LDLR):c.-217C>T
|
rs17249141
|
0.00338
|
|
NM_020066.5(FMN2):c.1259A>C (p.Lys420Thr)
|
rs146681532
|
0.00336
|
|
NM_000562.3(C8A):c.1331G>A (p.Arg444His)
|
rs143908758
|
0.00334
|
|
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu)
|
rs192402741
|
0.00334
|
|
NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu)
|
rs112600265
|
0.00333
|
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
|
NM_007374.3(SIX6):c.614T>G (p.Leu205Arg)
|
rs45549246
|
0.00324
|
|
NM_014862.4(ARNT2):c.1707G>T (p.Gln569His)
|
rs145379118
|
0.00324
|
|
NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr)
|
rs11553545
|
0.00322
|
|
NM_001386125.1(OBSCN):c.35T>A (p.Phe12Tyr)
|
rs191837710
|
0.00322
|
|
NM_021927.3(GUF1):c.748C>T (p.Arg250Cys)
|
rs116062572
|
0.00319
|
|
NM_000125.4(ESR1):c.16C>T (p.His6Tyr)
|
rs139960913
|
0.00317
|
|
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)
|
rs61733519
|
0.00316
|
|
NM_020921.4(NIN):c.3197T>A (p.Val1066Asp)
|
rs78280523
|
0.00316
|
|
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)
|
rs73003348
|
0.00315
|
|
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)
|
rs114089598
|
0.00312
|
|
NM_001372106.1(DNAH10):c.3337C>T (p.Arg1113Trp)
|
rs118146260
|
0.00312
|
|
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
|
rs114973968
|
0.00309
|
|
NM_005993.5(TBCD):c.2852+3A>G
|
rs187081192
|
0.00308
|
|
NM_017999.5(RNF31):c.1865A>T (p.Gln622Leu)
|
rs149481717
|
0.00307
|
|
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln)
|
rs539194350
|
0.00306
|
|
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met)
|
rs61731477
|
0.00306
|
|
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)
|
rs149830675
|
0.00306
|
|
NM_019885.4(CYP26B1):c.572G>A (p.Arg191His)
|
rs76025186
|
0.00305
|
|
NM_007208.4(MRPL3):c.931G>A (p.Gly311Ser)
|
rs148679749
|
0.00303
|
|
NM_080473.5(GATA5):c.56C>G (p.Ser19Trp)
|
rs200383755
|
0.00302
|
|
NM_002163.4(IRF8):c.602C>T (p.Ala201Val)
|
rs144424711
|
0.00301
|
|
NM_000540.3(RYR1):c.12869C>T (p.Ala4290Val)
|
rs755065800
|
0.00298
|
|
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg)
|
rs141184379
|
0.00297
|
|
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser)
|
rs45576136
|
0.00296
|
|
NM_153614.4(DNAJB13):c.671G>A (p.Arg224His)
|
rs147921001
|
0.00296
|
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
|
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)
|
rs147390654
|
0.00294
|
|
NM_001098816.3(TENM4):c.1453C>T (p.Pro485Ser)
|
rs191549326
|
0.00292
|
|
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His)
|
rs34615430
|
0.00292
|
|
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter)
|
rs76308115
|
0.00292
|
|
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met)
|
rs117475706
|
0.00292
|
|
NM_001982.4(ERBB3):c.3529C>A (p.Leu1177Ile)
|
rs55699040
|
0.00291
|
|
NM_000780.4(CYP7A1):c.1192C>G (p.Pro398Ala)
|
rs142708991
|
0.00290
|
|
NM_001374623.1(PNPLA1):c.383C>T (p.Thr128Met)
|
rs140585347
|
0.00290
|
|
NM_001378778.1(MPDZ):c.4220A>G (p.Tyr1407Cys)
|
rs200891478
|
0.00290
|
|
NM_001394062.1(MACF1):c.22506T>G (p.Phe7502Leu)
|
rs138819868
|
0.00290
|
|
NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg)
|
rs141447598
|
0.00289
|
|
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln)
|
rs181413143
|
0.00289
|
|
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met)
|
rs140317484
|
0.00287
|
|
NM_017757.3(ZNF407):c.1991G>T (p.Ser664Ile)
|
rs149806516
|
0.00286
|
|
NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu)
|
rs61966074
|
0.00285
|
|
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys)
|
rs45594632
|
0.00285
|
|
NM_001199862.2(KCNAB2):c.1183A>G (p.Ile395Val)
|
rs146277144
|
0.00285
|
|
NM_025074.7(FRAS1):c.6584A>G (p.Glu2195Gly)
|
rs10029227
|
0.00285
|
|
NM_016341.4(PLCE1):c.2728G>A (p.Val910Ile)
|
rs61751497
|
0.00284
|
|
NM_022916.6(VPS33A):c.1318C>T (p.His440Tyr)
|
rs143287106
|
0.00284
|
|
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)
|
rs189476639
|
0.00283
|
|
NM_016363.5(GP6):c.307C>G (p.Leu103Val)
|
rs28969501
|
0.00283
|
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00282
|
|
NM_018341.3(ERMARD):c.1162A>G (p.Asn388Asp)
|
rs151283330
|
0.00282
|
|
NM_020312.4(COQ9):c.835G>A (p.Asp279Asn)
|
rs76508383
|
0.00282
|
|
NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp)
|
rs150306354
|
0.00280
|
|
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys)
|
rs138861831
|
0.00280
|
|
NM_001201543.2(FAM161A):c.354G>T (p.Gln118His)
|
rs140622968
|
0.00277
|
|
NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser)
|
rs61737098
|
0.00277
|
|
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val)
|
rs55791823
|
0.00277
|
|
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)
|
rs34702903
|
0.00276
|
|
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)
|
rs62646862
|
0.00276
|
|
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
|
rs6054
|
0.00275
|
|
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)
|
rs140963213
|
0.00275
|
|
NM_005199.5(CHRNG):c.714G>T (p.Gln238His)
|
rs17838626
|
0.00274
|
|
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys)
|
rs41292753
|
0.00274
|
|
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser)
|
rs145151396
|
0.00273
|
|
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg)
|
rs75450131
|
0.00273
|
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
|
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln)
|
rs140492803
|
0.00272
|
|
NM_001395413.1(POR):c.674C>T (p.Pro225Leu)
|
rs17853284
|
0.00271
|
|
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)
|
rs186999408
|
0.00271
|
|
NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser)
|
rs56148525
|
0.00271
|
|
NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr)
|
rs143049891
|
0.00270
|
|
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)
|
rs140824939
|
0.00270
|
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
0.00269
|
|
NM_003737.4(DCHS1):c.4072G>A (p.Glu1358Lys)
|
rs184586428
|
0.00269
|
|
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=)
|
rs139180845
|
0.00269
|
|
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe)
|
rs148663672
|
0.00269
|
|
NM_182919.4(TICAM1):c.1702G>A (p.Ala568Thr)
|
rs143679494
|
0.00269
|
|
NM_015275.3(WASHC4):c.2162G>A (p.Arg721His)
|
rs74426960
|
0.00268
|
|
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)
|
rs188807564
|
0.00267
|
|
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)
|
rs41282065
|
0.00267
|
|
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)
|
rs76440173
|
0.00267
|
|
NM_016302.4(CRBN):c.88G>A (p.Glu30Lys)
|
rs78564552
|
0.00266
|
|
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser)
|
rs115328026
|
0.00266
|
|
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu)
|
rs150117594
|
0.00264
|
|
NM_001098484.3(SLC4A4):c.1805A>G (p.Lys602Arg)
|
rs72650362
|
0.00264
|
|
NM_020461.4(TUBGCP6):c.3382A>C (p.Arg1128=)
|
rs1266725037
|
0.00264
|
|
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)
|
rs201342438
|
0.00263
|
|
NM_020921.4(NIN):c.2041G>A (p.Gly681Arg)
|
rs142733791
|
0.00263
|
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
|
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys)
|
rs142335339
|
0.00261
|
|
NM_013435.3(RAX):c.197G>C (p.Arg66Thr)
|
rs536765190
|
0.00260
|
|
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala)
|
rs61752327
|
0.00260
|
|
NM_006514.4(SCN10A):c.3803G>A (p.Arg1268Gln)
|
rs138832868
|
0.00259
|
|
NM_006059.4(LAMC3):c.4160C>T (p.Ala1387Val)
|
rs141497885
|
0.00258
|
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
|
NM_014806.5(RUSC2):c.1418C>T (p.Pro473Leu)
|
rs61740253
|
0.00257
|
|
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val)
|
rs191830054
|
0.00256
|
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
|
NM_001136046.3(ZMYND15):c.2015G>A (p.Arg672His)
|
rs148980412
|
0.00255
|
|
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)
|
rs375045076
|
0.00255
|
|
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)
|
rs41307461
|
0.00255
|
|
NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser)
|
rs139295139
|
0.00254
|
|
NM_000392.5(ABCC2):c.1032-3C>T
|
rs139800035
|
0.00253
|
|
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe)
|
rs104895500
|
0.00253
|
|
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp)
|
rs1872267
|
0.00253
|
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
|
NM_022370.4(ROBO3):c.1838C>T (p.Thr613Ile)
|
rs200202857
|
0.00252
|
|
NM_025074.7(FRAS1):c.2861C>T (p.Thr954Met)
|
rs17003166
|
0.00252
|
|
NM_000562.3(C8A):c.385G>A (p.Asp129Asn)
|
rs150404785
|
0.00251
|
|
NM_007315.4(STAT1):c.796G>A (p.Val266Ile)
|
rs41473544
|
0.00251
|
|
NM_017662.5(TRPM6):c.1421G>A (p.Arg474Gln)
|
rs142043309
|
0.00251
|
|
NM_198239.2(CCN6):c.310G>C (p.Val104Leu)
|
rs78266262
|
0.00251
|
|
NM_000101.4(CYBA):c.226G>A (p.Val76Met)
|
rs149344911
|
0.00250
|
|
NM_003114.5(SPAG1):c.1226C>G (p.Thr409Ser)
|
rs544372581
|
0.00250
|
|
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe)
|
rs115198029
|
0.00250
|
|
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His)
|
rs199612744
|
0.00249
|
|
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln)
|
rs113591604
|
0.00249
|
|
NM_014339.7(IL17RA):c.1174G>T (p.Val392Leu)
|
rs146478431
|
0.00249
|
|
NM_000153.4(GALC):c.997G>A (p.Gly333Arg)
|
rs190921137
|
0.00248
|
|
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu)
|
rs143827025
|
0.00248
|
|
NM_004525.3(LRP2):c.1973A>G (p.Tyr658Cys)
|
rs111360923
|
0.00248
|
|
NM_025009.5(CEP135):c.3265T>A (p.Leu1089Ile)
|
rs76659072
|
0.00248
|
|
NM_000505.4(F12):c.418C>G (p.Leu140Val)
|
rs35515200
|
0.00247
|
|
NM_001457.4(FLNB):c.1559C>T (p.Pro520Leu)
|
rs138220431
|
0.00247
|
|
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln)
|
rs146573578
|
0.00247
|
|
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)
|
rs148352371
|
0.00245
|
|
NM_020812.4(DOCK6):c.3752G>A (p.Arg1251Gln)
|
rs200390354
|
0.00245
|
|
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val)
|
rs144334723
|
0.00245
|
|
NM_144508.5(KNL1):c.1233G>C (p.Met411Ile)
|
rs116093409
|
0.00245
|
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
|
NM_001349.4(DARS1):c.590G>A (p.Arg197His)
|
rs141522501
|
0.00244
|
|
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val)
|
rs141901178
|
0.00244
|
|
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)
|
rs138480801
|
0.00244
|
|
NM_000255.4(MMUT):c.205A>G (p.Ile69Val)
|
rs115923556
|
0.00243
|
|
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn)
|
rs148777544
|
0.00243
|
|
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu)
|
rs143929832
|
0.00242
|
|
NM_001291303.3(FAT4):c.5987A>G (p.Lys1996Arg)
|
rs140055438
|
0.00242
|
|
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu)
|
rs150687987
|
0.00242
|
|
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val)
|
rs116464756
|
0.00241
|
|
NM_025074.7(FRAS1):c.7033G>A (p.Glu2345Lys)
|
rs56291926
|
0.00241
|
|
NM_003041.4(SLC5A2):c.1297A>G (p.Ile433Val)
|
rs150546732
|
0.00240
|
|
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)
|
rs35689779
|
0.00239
|
|
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)
|
rs113106943
|
0.00239
|
|
NM_001293298.2(CEMIP):c.3397G>A (p.Glu1133Lys)
|
rs151273972
|
0.00239
|
|
NM_006904.7(PRKDC):c.422C>G (p.Ser141Cys)
|
rs201231274
|
0.00239
|
|
NM_001164508.2(NEB):c.9155G>A (p.Arg3052Gln)
|
rs201176993
|
0.00238
|
|
NM_003383.5(VLDLR):c.982A>G (p.Ser328Gly)
|
rs116306908
|
0.00238
|
|
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys)
|
rs145310298
|
0.00238
|
|
NM_016343.4(CENPF):c.3811A>G (p.Lys1271Glu)
|
rs62000407
|
0.00238
|
|
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)
|
rs36099971
|
0.00237
|
|
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)
|
rs117843968
|
0.00237
|
|
NM_001384732.1(CPLANE1):c.8958+4A>C
|
rs199810663
|
0.00237
|
|
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu)
|
rs148331180
|
0.00237
|
|
NM_194248.3(OTOF):c.245G>A (p.Arg82His)
|
rs149766574
|
0.00237
|
|
NM_000326.5(RLBP1):c.9A>C (p.Glu3Asp)
|
rs146844731
|
0.00236
|
|
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn)
|
rs35234349
|
0.00236
|
|
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val)
|
rs145035489
|
0.00236
|
|
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=)
|
rs111033292
|
0.00235
|
|
NM_001363711.2(DUOX2):c.2950G>T (p.Ala984Ser)
|
rs138358075
|
0.00235
|
|
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met)
|
rs139415285
|
0.00235
|
|
NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp)
|
rs121913212
|
0.00235
|
|
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln)
|
rs202110076
|
0.00235
|
|
NM_020921.4(NIN):c.2987C>T (p.Ala996Val)
|
rs41313507
|
0.00235
|
|
NM_000394.4(CRYAA):c.154C>T (p.Leu52Phe)
|
rs146914780
|
0.00234
|
|
NM_002291.3(LAMB1):c.476C>G (p.Thr159Ser)
|
rs140146478
|
0.00233
|
|
NM_153603.4(COG7):c.1178A>G (p.His393Arg)
|
rs116331296
|
0.00233
|
|
NM_003999.3(OSMR):c.1307T>A (p.Val436Asp)
|
rs34324145
|
0.00232
|
|
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys)
|
rs113817924
|
0.00232
|
|
NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser)
|
rs117757092
|
0.00232
|
|
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val)
|
rs144715071
|
0.00232
|
|
NM_000126.4(ETFA):c.186+7A>G
|
rs184587113
|
0.00231
|
|
NM_020921.4(NIN):c.2665G>C (p.Val889Leu)
|
rs78251482
|
0.00231
|
|
NM_000046.5(ARSB):c.317G>A (p.Arg106His)
|
rs150087888
|
0.00230
|
|
NM_000484.3(APP):c.-626C>T
|
rs139885956
|
0.00230
|
|
NM_001715.3(BLK):c.674C>T (p.Pro225Leu)
|
rs144592409
|
0.00230
|
|
NM_014339.7(IL17RA):c.958T>C (p.Trp320Arg)
|
rs140221307
|
0.00230
|
|
NM_021729.6(VPS11):c.2078T>C (p.Met693Thr)
|
rs146380141
|
0.00230
|
|
NM_138422.4(ADAT3):c.383G>T (p.Arg128Leu)
|
rs200992550
|
0.00230
|
|
NM_173630.4(RTTN):c.4303-8A>G
|
rs199597732
|
0.00230
|
|
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val)
|
rs61736002
|
0.00229
|
|
NM_001363.4(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
|
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr)
|
rs202049257
|
0.00229
|
|
NM_147686.4(TRAF3IP2):c.232C>G (p.Arg78Gly)
|
rs73764462
|
0.00229
|
|
NM_001127178.3(PIGG):c.422C>T (p.Ala141Val)
|
rs116772777
|
0.00227
|
|
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)
|
rs189186475
|
0.00227
|
|
NM_002470.4(MYH3):c.1411T>C (p.Tyr471His)
|
rs115742228
|
0.00227
|
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
|
NM_014855.3(AP5Z1):c.366+5C>T
|
rs143800095
|
0.00227
|
|
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr)
|
rs11569541
|
0.00226
|
|
NM_001093.4(ACACB):c.134A>G (p.Gln45Arg)
|
rs139767464
|
0.00226
|
|
NM_012092.4(ICOS):c.451G>C (p.Val151Leu)
|
rs76778263
|
0.00226
|
|
NM_182894.3(VSX2):c.162C>A (p.Asp54Glu)
|
rs61747367
|
0.00226
|
|
NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys)
|
rs144035770
|
0.00225
|
|
NM_001163435.3(TBCK):c.1130A>T (p.Asp377Val)
|
rs34840340
|
0.00225
|
|
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)
|
rs148040591
|
0.00225
|
|
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)
|
rs142586585
|
0.00225
|
|
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val)
|
rs199547661
|
0.00223
|
|
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu)
|
rs149953814
|
0.00223
|
|
NM_014339.7(IL17RA):c.152C>T (p.Thr51Met)
|
rs143008696
|
0.00223
|
|
NM_024598.4(USB1):c.641G>A (p.Cys214Tyr)
|
rs146685901
|
0.00223
|
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
|
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)
|
rs141620200
|
0.00222
|
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
|
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr)
|
rs199727372
|
0.00222
|
|
NM_001854.4(COL11A1):c.2556+92T>A
|
rs550991929
|
0.00222
|
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
|
NM_022042.4(SLC26A1):c.1043T>C (p.Leu348Pro)
|
rs148386572
|
0.00222
|
|
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp)
|
rs371307947
|
0.00222
|
|
NM_000212.3(ITGB3):c.557C>T (p.Pro186Leu)
|
rs61736876
|
0.00221
|
|
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu)
|
rs150801382
|
0.00221
|
|
NM_005916.5(MCM7):c.1417G>A (p.Gly473Ser)
|
rs2307347
|
0.00220
|
|
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser)
|
rs139372744
|
0.00220
|
|
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)
|
rs74315416
|
0.00220
|
|
NM_003922.4(HERC1):c.3374G>A (p.Gly1125Asp)
|
rs80203202
|
0.00219
|
|
NM_004525.3(LRP2):c.11663G>A (p.Arg3888His)
|
rs77686710
|
0.00218
|
|
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln)
|
rs34682727
|
0.00218
|
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
|
NM_001813.3(CENPE):c.3749C>G (p.Thr1250Ser)
|
rs114698062
|
0.00217
|
|
NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg)
|
rs200543687
|
0.00216
|
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
|
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)
|
rs137934837
|
0.00216
|
|
NM_003721.4(RFXANK):c.445G>A (p.Asp149Asn)
|
rs115220304
|
0.00216
|
|
NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met)
|
rs62089120
|
0.00216
|
|
NM_198576.4(AGRN):c.1394C>T (p.Pro465Leu)
|
rs116586548
|
0.00216
|
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
|
NM_004447.6(EPS8):c.1876C>A (p.Pro626Thr)
|
rs142733590
|
0.00215
|
|
NM_032122.5(DTNBP1):c.662G>A (p.Arg221Gln)
|
rs76349207
|
0.00215
|
|
NM_178857.6(RP1L1):c.32C>T (p.Pro11Leu)
|
rs199642627
|
0.00215
|
|
NM_144631.6(ZNF513):c.781G>A (p.Val261Met)
|
rs61742428
|
0.00214
|
|
NM_000170.3(GLDC):c.2487C>T (p.Ala829=)
|
rs141806715
|
0.00213
|
|
NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys)
|
rs146834675
|
0.00213
|
|
NM_001142800.2(EYS):c.788A>G (p.His263Arg)
|
rs139517572
|
0.00213
|
|
NM_018943.3(TUBA8):c.1334A>T (p.Glu445Val)
|
rs138073466
|
0.00213
|
|
NM_020070.4(IGLL1):c.350C>T (p.Thr117Ile)
|
rs143780139
|
0.00213
|
|
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)
|
rs149210307
|
0.00212
|
|
NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro)
|
rs77154172
|
0.00212
|
|
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln)
|
rs113653972
|
0.00212
|
|
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp)
|
rs113058506
|
0.00212
|
|
NM_005245.4(FAT1):c.10966G>A (p.Val3656Ile)
|
rs192691397
|
0.00212
|
|
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)
|
rs76024428
|
0.00212
|
|
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs)
|
rs565866662
|
0.00212
|
|
NM_000593.6(TAP1):c.1103T>C (p.Ile368Thr)
|
rs55767910
|
0.00211
|
|
NM_001367805.3(KIF23):c.274G>C (p.Val92Leu)
|
rs137922672
|
0.00211
|
|
NM_001378778.1(MPDZ):c.1975G>A (p.Val659Ile)
|
rs77838108
|
0.00211
|
|
NM_006079.5(CITED2):c.479A>T (p.His160Leu)
|
rs111814036
|
0.00211
|
|
NM_015967.8(PTPN22):c.1108C>A (p.His370Asn)
|
rs72650671
|
0.00211
|
|
NM_004946.3(DOCK2):c.1360G>A (p.Ala454Thr)
|
rs114888195
|
0.00210
|
|
NM_006563.5(KLF1):c.311C>T (p.Ala104Val)
|
rs182276666
|
0.00210
|
|
NM_018255.4(ELP2):c.224C>G (p.Ser75Cys)
|
rs74438152
|
0.00210
|
|
NM_025145.7(CFAP43):c.745G>T (p.Asp249Tyr)
|
rs41291844
|
0.00210
|
|
NM_031296.3(RAB33B):c.530C>T (p.Thr177Met)
|
rs140381459
|
0.00210
|
|
NM_144991.3(TSPEAR):c.170G>A (p.Arg57Gln)
|
rs151001222
|
0.00210
|
|
NM_001868.4(CPA1):c.497G>A (p.Gly166Asp)
|
rs144546424
|
0.00209
|
|
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)
|
rs36220240
|
0.00209
|
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
|
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys)
|
rs191662816
|
0.00208
|
|
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)
|
rs61752842
|
0.00208
|
|
NM_005245.4(FAT1):c.9440T>G (p.Val3147Gly)
|
rs188733415
|
0.00208
|
|
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)
|
rs104895100
|
0.00207
|
|
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr)
|
rs147012990
|
0.00207
|
|
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)
|
rs139872140
|
0.00207
|
|
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser)
|
rs151129325
|
0.00207
|
|
NM_016343.4(CENPF):c.1055A>G (p.Gln352Arg)
|
rs6697155
|
0.00207
|
|
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg)
|
rs148328539
|
0.00207
|
|
NM_020884.7(MYH7B):c.2629C>T (p.Arg877Cys)
|
rs200371401
|
0.00207
|
|
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln)
|
rs7437875
|
0.00206
|
|
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg)
|
rs60103800
|
0.00206
|
|
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)
|
rs139738333
|
0.00205
|
|
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser)
|
rs151271754
|
0.00205
|
|
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)
|
rs150278938
|
0.00205
|
|
NM_005559.4(LAMA1):c.2989C>T (p.Pro997Ser)
|
rs148593258
|
0.00205
|
|
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp)
|
rs200146361
|
0.00205
|
|
NM_021978.4(ST14):c.508G>A (p.Glu170Lys)
|
rs150984123
|
0.00205
|
|
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)
|
rs61733680
|
0.00204
|
|
NM_000452.3(SLC10A2):c.762-3T>C
|
rs190734512
|
0.00204
|
|
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg)
|
rs148372053
|
0.00204
|
|
NM_001365304.2(LOC112694756):c.*621+4C>T
|
rs200278984
|
0.00204
|
|
NM_006269.2(RP1):c.4250T>C (p.Leu1417Pro)
|
rs139294220
|
0.00204
|
|
NM_032833.5(PPP1R15B):c.136G>A (p.Gly46Arg)
|
rs149785262
|
0.00204
|
|
NM_207361.6(FREM2):c.9113T>C (p.Val3038Ala)
|
rs114688149
|
0.00204
|
|
NM_001163809.2(WDR81):c.5231C>T (p.Ala1744Val)
|
rs137952560
|
0.00203
|
|
NM_002187.3(IL12B):c.749G>A (p.Arg250Gln)
|
rs74644143
|
0.00203
|
|
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)
|
rs148378319
|
0.00203
|
|
NM_005559.4(LAMA1):c.1792G>C (p.Glu598Gln)
|
rs116690149
|
0.00203
|
|
NM_014639.4(SKIC3):c.3940G>A (p.Glu1314Lys)
|
rs74664147
|
0.00203
|
|
NM_177986.5(DSG4):c.2366C>T (p.Ala789Val)
|
rs144490546
|
0.00203
|
|
NM_000175.5(GPI):c.907A>C (p.Met303Leu)
|
rs143733383
|
0.00202
|
|
NM_004807.3(HS6ST1):c.652C>T (p.Pro218Ser)
|
rs200268730
|
0.00202
|
|
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile)
|
rs138232538
|
0.00202
|
|
NM_017775.4(TTC19):c.820A>G (p.Arg274Gly)
|
rs147111211
|
0.00202
|
|
NM_025150.5(TARS2):c.1160C>T (p.Pro387Leu)
|
rs141179905
|
0.00202
|
|
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln)
|
rs150374940
|
0.00202
|
|
NM_080605.4(B3GALT6):c.107C>T (p.Pro36Leu)
|
rs568623476
|
0.00202
|
|
NM_182746.3(MCM4):c.1406G>C (p.Ser469Thr)
|
rs117063344
|
0.00202
|
|
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=)
|
rs148755655
|
0.00201
|
|
NM_006348.5(COG5):c.790T>A (p.Leu264Ile)
|
rs142276972
|
0.00201
|
|
NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp)
|
rs146547678
|
0.00201
|
|
NM_014402.5(UQCRQ):c.10G>A (p.Glu4Lys)
|
rs137995316
|
0.00201
|
|
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)
|
rs191971593
|
0.00201
|
|
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)
|
rs141152043
|
0.00200
|
|
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp)
|
rs139084702
|
0.00200
|
|
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser)
|
rs146616621
|
0.00200
|
|
NM_001365999.1(SZT2):c.6380A>T (p.Tyr2127Phe)
|
rs149812437
|
0.00200
|
|
NM_002408.4(MGAT2):c.229C>T (p.Pro77Ser)
|
rs145684106
|
0.00200
|
|
NM_014639.4(SKIC3):c.3207G>C (p.Glu1069Asp)
|
rs143346257
|
0.00200
|
|
NM_020461.4(TUBGCP6):c.89G>A (p.Arg30Gln)
|
rs148626062
|
0.00200
|
|
NM_000041.4(APOE):c.137T>C (p.Leu46Pro)
|
rs769452
|
0.00199
|
|
NM_001042413.2(GLIS3):c.893C>A (p.Ser298Tyr)
|
rs148572278
|
0.00199
|
|
NM_001374504.1(TMPRSS6):c.307C>T (p.Arg103Cys)
|
rs113803353
|
0.00199
|
|
NM_001567.4(INPPL1):c.1343C>T (p.Ser448Leu)
|
rs139442327
|
0.00199
|
|
NM_006329.4(FBLN5):c.376G>A (p.Val126Met)
|
rs61734479
|
0.00199
|
|
NM_000064.4(C3):c.2203C>T (p.Arg735Trp)
|
rs117793540
|
0.00198
|
|
NM_002253.4(KDR):c.2312C>T (p.Thr771Met)
|
rs149745504
|
0.00198
|
|
NM_003235.5(TG):c.6181G>A (p.Gly2061Arg)
|
rs115436575
|
0.00198
|
|
NM_005327.7(HADH):c.643C>A (p.Pro215Thr)
|
rs140413151
|
0.00198
|
|
NM_005559.4(LAMA1):c.1239C>A (p.Asp413Glu)
|
rs144278838
|
0.00198
|
|
NM_006901.4(MYO9A):c.6454G>A (p.Glu2152Lys)
|
rs74022458
|
0.00198
|
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
|
NM_017662.5(TRPM6):c.2319G>C (p.Gln773His)
|
rs143164660
|
0.00198
|
|
NM_032608.7(MYO18B):c.3431C>T (p.Ala1144Val)
|
rs185802314
|
0.00198
|
|
NM_001040108.2(MLH3):c.2425A>G (p.Met809Val)
|
rs61752722
|
0.00197
|
|
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile)
|
rs183406496
|
0.00197
|
|
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met)
|
rs76762510
|
0.00197
|
|
NM_003977.4(AIP):c.47G>A (p.Arg16His)
|
rs145047094
|
0.00197
|
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
|
NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met)
|
rs150403702
|
0.00197
|
|
NM_001136193.2(FASTKD2):c.2018A>G (p.Asn673Ser)
|
rs142211558
|
0.00196
|
|
NM_003619.4(PRSS12):c.323C>G (p.Pro108Arg)
|
rs199996930
|
0.00196
|
|
NM_000940.3(PON3):c.94C>T (p.Arg32Ter)
|
rs147006695
|
0.00195
|
|
NM_001036.6(RYR3):c.7490A>G (p.Asn2497Ser)
|
rs61996331
|
0.00195
|
|
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp)
|
rs139134727
|
0.00195
|
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
|
NM_005529.7(HSPG2):c.9327C>T (p.His3109=)
|
rs61743674
|
0.00195
|
|
NM_016292.3(TRAP1):c.2053G>A (p.Asp685Asn)
|
rs61756352
|
0.00195
|
|
NM_030928.4(CDT1):c.1631A>T (p.Glu544Val)
|
rs144843732
|
0.00195
|
|
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)
|
rs145556097
|
0.00195
|
|
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln)
|
rs189931659
|
0.00194
|
|
NM_001048166.1(STIL):c.1069G>A (p.Ala357Thr)
|
rs75426387
|
0.00194
|
|
NM_003356.4(UCP3):c.427C>T (p.Arg143Ter)
|
rs104894319
|
0.00194
|
|
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu)
|
rs1800579
|
0.00193
|
|
NM_001012339.3(DNAJC21):c.316-8T>G
|
rs182094106
|
0.00193
|
|
NM_001330691.3(CEP78):c.1846-1G>C
|
rs146563928
|
0.00193
|
|
NM_004563.4(PCK2):c.1234+1G>T
|
rs138881435
|
0.00193
|
|
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)
|
rs56107171
|
0.00193
|
|
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr)
|
rs150916370
|
0.00193
|
|
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)
|
rs147641443
|
0.00192
|
|
NM_001254.4(CDC6):c.712A>G (p.Thr238Ala)
|
rs4135010
|
0.00192
|
|
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly)
|
rs35573508
|
0.00192
|
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016
|
0.00192
|
|
NM_004994.3(MMP9):c.886G>A (p.Gly296Ser)
|
rs144098289
|
0.00191
|
|
NM_014967.5(FAN1):c.149T>G (p.Met50Arg)
|
rs148404807
|
0.00191
|
|
NM_015087.5(SPART):c.1130A>T (p.Lys377Met)
|
rs148672324
|
0.00191
|
|
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=)
|
rs41291054
|
0.00191
|
|
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu)
|
rs201234482
|
0.00191
|
|
NM_018475.5(TMEM165):c.294C>T (p.Val98=)
|
rs11542641
|
0.00191
|
|
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val)
|
rs141873943
|
0.00191
|
|
NM_001102608.3(COL6A6):c.4300G>T (p.Gly1434Ter)
|
rs140872639
|
0.00190
|
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
|
NM_000096.4(CP):c.2571C>T (p.Tyr857=)
|
rs151304828
|
0.00189
|
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
|
NM_001204375.2(NPR3):c.1388G>A (p.Arg463Gln)
|
rs41270319
|
0.00189
|
|
NM_005609.4(PYGM):c.330C>T (p.Asp110=)
|
rs114742918
|
0.00189
|
|
NM_006059.4(LAMC3):c.4130C>T (p.Thr1377Ile)
|
rs144662546
|
0.00189
|
|
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn)
|
rs144586270
|
0.00189
|
|
NM_198488.5(FAM83H):c.601C>T (p.Gln201Ter)
|
rs189033490
|
0.00189
|
|
NM_000027.4(AGA):c.436T>G (p.Leu146Val)
|
rs146381591
|
0.00188
|
|
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala)
|
rs4253046
|
0.00188
|
|
NM_016341.4(PLCE1):c.1567A>G (p.Ile523Val)
|
rs61751494
|
0.00188
|
|
NM_001127178.3(PIGG):c.724G>A (p.Val242Met)
|
rs144411585
|
0.00187
|
|
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)
|
rs149881695
|
0.00187
|
|
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr)
|
rs200775946
|
0.00187
|
|
NM_052859.4(RFT1):c.5G>A (p.Gly2Asp)
|
rs185366134
|
0.00187
|
|
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys)
|
rs185863881
|
0.00187
|
|
NM_006412.4(AGPAT2):c.340C>T (p.Arg114Cys)
|
rs142145391
|
0.00186
|
|
NM_203395.3(IYD):c.604G>A (p.Ala202Thr)
|
rs146905706
|
0.00186
|
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
|
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu)
|
rs199610834
|
0.00185
|
|
NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu)
|
rs143251588
|
0.00185
|
|
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile)
|
rs149133845
|
0.00185
|
|
NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu)
|
rs147945634
|
0.00185
|
|
NM_014780.5(CUL7):c.2645G>A (p.Arg882Gln)
|
rs45574335
|
0.00185
|
|
NM_020745.4(AARS2):c.1084A>T (p.Met362Leu)
|
rs147091256
|
0.00185
|
|
NM_130398.4(EXO1):c.2212-1G>C
|
rs4150000
|
0.00185
|
|
NM_003835.4(RGS9):c.313A>G (p.Thr105Ala)
|
rs200798153
|
0.00184
|
|
NM_000306.4(POU1F1):c.370A>G (p.Met124Val)
|
rs143373007
|
0.00183
|
|
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)
|
rs138682163
|
0.00183
|
|
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)
|
rs111033255
|
0.00183
|
|
NM_001195248.2(APTX):c.742T>A (p.Leu248Met)
|
rs141195622
|
0.00183
|
|
NM_001198800.3(ASCC1):c.107A>G (p.Tyr36Cys)
|
rs145940742
|
0.00183
|
|
NM_001363711.2(DUOX2):c.1351G>A (p.Asp451Asn)
|
rs139786814
|
0.00183
|
|
NM_032520.5(GNPTG):c.741+5C>T
|
rs201263537
|
0.00183
|
|
NM_203288.2(RP9):c.34G>A (p.Ala12Thr)
|
rs775870239
|
0.00183
|
|
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)
|
rs201979610
|
0.00182
|
|
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)
|
rs142025324
|
0.00182
|
|
NM_003737.4(DCHS1):c.5567C>A (p.Pro1856His)
|
rs111515657
|
0.00182
|
|
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=)
|
rs145144233
|
0.00182
|
|
NM_015311.3(OBSL1):c.375G>A (p.Glu125=)
|
rs374656370
|
0.00182
|
|
NM_024876.4(COQ8B):c.1036-3C>G
|
rs200061712
|
0.00182
|
|
NM_002618.4(PEX13):c.355G>A (p.Val119Ile)
|
rs147707348
|
0.00181
|
|
NM_003114.5(SPAG1):c.2714C>T (p.Ser905Leu)
|
rs142031266
|
0.00181
|
|
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser)
|
rs111834376
|
0.00181
|
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
|
NM_145207.3(AFG2A):c.896G>T (p.Gly299Val)
|
rs75871497
|
0.00181
|
|
NM_177965.4(CFAP418):c.512T>G (p.Ile171Arg)
|
rs143893647
|
0.00181
|
|
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)
|
rs138731505
|
0.00180
|
|
NM_000787.4(DBH):c.1444G>A (p.Gly482Arg)
|
rs41316996
|
0.00180
|
|
NM_001195263.2(PDZD7):c.2411C>T (p.Ala804Val)
|
rs397516635
|
0.00180
|
|
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)
|
rs147372600
|
0.00180
|
|
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His)
|
rs143858741
|
0.00180
|
|
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile)
|
rs61730849
|
0.00180
|
|
NM_017721.5(CC2D1A):c.314C>T (p.Ala105Val)
|
rs192358667
|
0.00180
|
|
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg)
|
rs137917233
|
0.00180
|
|
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)
|
rs61760163
|
0.00179
|
|
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser)
|
rs201884779
|
0.00179
|
|
NM_001684.5(ATP2B4):c.2819A>G (p.Lys940Arg)
|
rs138580420
|
0.00179
|
|
NM_001918.5(DBT):c.753C>T (p.Asp251=)
|
rs79292123
|
0.00179
|
|
NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys)
|
rs142563930
|
0.00179
|
|
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg)
|
rs144682235
|
0.00179
|
|
NM_020427.3(SLURP1):c.310T>C (p.Ter104Arg)
|
rs62636565
|
0.00179
|
|
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)
|
rs144200355
|
0.00179
|
|
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)
|
rs61754024
|
0.00178
|
|
NM_000780.4(CYP7A1):c.38C>T (p.Ala13Val)
|
rs147162838
|
0.00178
|
|
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val)
|
rs144215383
|
0.00178
|
|
NM_001378778.1(MPDZ):c.511C>G (p.Gln171Glu)
|
rs181479224
|
0.00178
|
|
NM_020987.5(ANK3):c.9997A>T (p.Thr3333Ser)
|
rs140183285
|
0.00178
|
|
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)
|
rs145569846
|
0.00178
|
|
NM_001164508.2(NEB):c.22800+9A>G
|
rs144303545
|
0.00177
|
|
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser)
|
rs143602832
|
0.00177
|
|
NM_002894.3(RBBP8):c.1367A>G (p.His456Arg)
|
rs139743319
|
0.00177
|
|
NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr)
|
rs148591757
|
0.00177
|
|
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr)
|
rs116700257
|
0.00177
|
|
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile)
|
rs143107549
|
0.00177
|
|
NM_020987.5(ANK3):c.10688A>G (p.Glu3563Gly)
|
rs147527383
|
0.00177
|
|
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)
|
rs61744480
|
0.00177
|
|
NM_198060.4(NRAP):c.2963A>C (p.Gln988Pro)
|
rs150955833
|
0.00177
|
|
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr)
|
rs74977201
|
0.00176
|
|
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn)
|
rs144486825
|
0.00176
|
|
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln)
|
rs33958176
|
0.00176
|
|
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn)
|
rs200592310
|
0.00176
|
|
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=)
|
rs140949805
|
0.00176
|
|
NM_022124.6(CDH23):c.6713-8G>A
|
rs369946986
|
0.00176
|
|
NM_000233.4(LHCGR):c.568C>A (p.Gln190Lys)
|
rs61996318
|
0.00175
|
|
NM_000372.5(TYR):c.1366+4A>G
|
rs61754398
|
0.00175
|
|
NM_001034852.3(SMOC1):c.230C>T (p.Pro77Leu)
|
rs143606483
|
0.00175
|
|
NM_001710.6(CFB):c.724A>C (p.Ile242Leu)
|
rs144812066
|
0.00175
|
|
NM_001813.3(CENPE):c.6928A>G (p.Ile2310Val)
|
rs111281600
|
0.00175
|
|
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile)
|
rs28359542
|
0.00175
|
|
NM_005450.6(NOG):c.275G>A (p.Gly92Glu)
|
rs199566527
|
0.00175
|
|
NM_005609.4(PYGM):c.924C>T (p.Ile308=)
|
rs139726186
|
0.00175
|
|
NM_006059.4(LAMC3):c.1520-6G>A
|
rs192031352
|
0.00175
|
|
NM_015072.5(TTLL5):c.2603-3T>C
|
rs185326652
|
0.00175
|
|
NM_020949.3(SLC7A14):c.821C>T (p.Thr274Ile)
|
rs116040996
|
0.00175
|
|
NM_182943.3(PLOD2):c.1639T>C (p.Tyr547His)
|
rs115199093
|
0.00175
|
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
|
NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met)
|
rs142573385
|
0.00173
|
|
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val)
|
rs143511445
|
0.00173
|
|
NM_001953.5(TYMP):c.1290G>A (p.Arg430=)
|
rs570574111
|
0.00173
|
|
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser)
|
rs141235720
|
0.00173
|
|
NM_012254.3(SLC27A5):c.1229G>A (p.Gly410Glu)
|
rs149709084
|
0.00173
|
|
NM_014339.7(IL17RA):c.1493C>T (p.Thr498Ile)
|
rs41529049
|
0.00173
|
|
NM_016138.5(COQ7):c.545A>G (p.His182Arg)
|
rs139931303
|
0.00173
|
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
|
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp)
|
rs148671332
|
0.00172
|
|
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)
|
rs184458982
|
0.00172
|
|
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His)
|
rs77939839
|
0.00172
|
|
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)
|
rs61736380
|
0.00172
|
|
NM_004279.3(PMPCB):c.1336A>G (p.Asn446Asp)
|
rs144744182
|
0.00172
|
|
NM_005876.5(SPEG):c.3998C>T (p.Thr1333Met)
|
rs76811720
|
0.00172
|
|
NM_006348.5(COG5):c.50G>T (p.Gly17Val)
|
rs139763861
|
0.00172
|
|
NM_147686.4(TRAF3IP2):c.819C>G (p.His273Gln)
|
rs144405088
|
0.00172
|
|
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)
|
rs56136489
|
0.00172
|
|
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser)
|
rs145553827
|
0.00171
|
|
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
|
rs2227624
|
0.00171
|
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
|
NM_000550.3(TYRP1):c.70G>A (p.Ala24Thr)
|
rs61758405
|
0.00171
|
|
NM_001256545.2(MEGF10):c.3216G>C (p.Arg1072Ser)
|
rs75783175
|
0.00171
|
|
NM_004618.5(TOP3A):c.604G>A (p.Asp202Asn)
|
rs117856165
|
0.00171
|
|
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys)
|
rs139165033
|
0.00171
|
|
NM_138295.5(PKD1L1):c.6949C>T (p.Arg2317Trp)
|
rs139293796
|
0.00171
|
|
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr)
|
rs35797405
|
0.00170
|
|
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser)
|
rs45592239
|
0.00170
|
|
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)
|
rs61733140
|
0.00170
|
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
|
NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser)
|
rs61750320
|
0.00170
|
|
NM_015425.6(POLR1A):c.2017C>G (p.Pro673Ala)
|
rs191928354
|
0.00170
|
|
NM_018451.5(CENPJ):c.1021T>G (p.Tyr341Asp)
|
rs143258862
|
0.00170
|
|
NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser)
|
rs144530996
|
0.00170
|
|
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser)
|
rs147744729
|
0.00169
|
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
|
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)
|
rs56077602
|
0.00169
|
|
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys)
|
rs143459302
|
0.00169
|
|
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp)
|
rs117175017
|
0.00169
|
|
NM_022041.4(GAN):c.1445C>T (p.Ala482Val)
|
rs146576740
|
0.00169
|
|
NM_033641.4(COL4A6):c.2371G>A (p.Gly791Ser)
|
rs143895379
|
0.00169
|
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
|
NM_001371986.1(UNC80):c.4141C>G (p.Pro1381Ala)
|
rs192242889
|
0.00168
|
|
NM_001378609.3(OTOGL):c.6968G>A (p.Arg2323Gln)
|
rs143495342
|
0.00168
|
|
NM_003647.3(DGKE):c.465-3C>T
|
rs375726408
|
0.00168
|
|
NM_005559.4(LAMA1):c.5794C>G (p.Leu1932Val)
|
rs115759032
|
0.00168
|
|
NM_016239.4(MYO15A):c.6785G>A (p.Arg2262His)
|
rs200623501
|
0.00168
|
|
NM_024589.3(ROGDI):c.822+8C>T
|
rs376868221
|
0.00168
|
|
NM_198506.5(LRIT3):c.1455C>T (p.Ala485=)
|
rs149304853
|
0.00168
|
|
NM_001128228.3(TPRN):c.1261C>T (p.Pro421Ser)
|
rs72763296
|
0.00167
|
|
NM_004035.7(ACOX1):c.497A>G (p.Asn166Ser)
|
rs145056278
|
0.00167
|
|
NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis)
|
rs566116760
|
0.00167
|
|
NM_030928.4(CDT1):c.900G>C (p.Gln300His)
|
rs143149360
|
0.00167
|
|
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=)
|
rs146588811
|
0.00167
|
|
NM_001145306.2(CDK6):c.328G>A (p.Asp110Asn)
|
rs35654944
|
0.00166
|
|
NM_001497.4(B4GALT1):c.259C>T (p.Pro87Ser)
|
rs149181384
|
0.00166
|
|
NM_005276.4(GPD1):c.612G>A (p.Lys204=)
|
rs35256655
|
0.00166
|
|
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp)
|
rs149202834
|
0.00166
|
|
NM_016953.4(PDE11A):c.1825G>A (p.Asp609Asn)
|
rs77934668
|
0.00166
|
|
NM_017563.5(IL17RD):c.878C>T (p.Pro293Leu)
|
rs150457965
|
0.00166
|
|
NM_020812.4(DOCK6):c.4862T>C (p.Val1621Ala)
|
rs201738818
|
0.00166
|
|
NM_000293.3(PHKB):c.574A>G (p.Ile192Val)
|
rs117218785
|
0.00165
|
|
NM_001041.4(SI):c.1111G>A (p.Val371Met)
|
rs138434001
|
0.00165
|
|
NM_001142800.2(EYS):c.6535A>G (p.Ile2179Val)
|
rs148019592
|
0.00165
|
|
NM_001193313.2(SUGCT):c.126A>C (p.Glu42Asp)
|
rs193023834
|
0.00165
|
|
NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala)
|
rs373913240
|
0.00165
|
|
NM_130810.4(DNAAF4):c.881A>T (p.Lys294Met)
|
rs116339967
|
0.00165
|
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
|
NM_001276270.2(MBD4):c.1382A>G (p.Asn461Ser)
|
rs78782061
|
0.00164
|
|
NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr)
|
rs142756983
|
0.00164
|
|
NM_004525.3(LRP2):c.4351G>T (p.Val1451Phe)
|
rs146289506
|
0.00164
|
|
NM_016953.4(PDE11A):c.155G>C (p.Arg52Thr)
|
rs77972073
|
0.00164
|
|
NM_017721.5(CC2D1A):c.1357-2A>C
|
rs200557641
|
0.00164
|
|
NM_173630.4(RTTN):c.2804A>G (p.His935Arg)
|
rs145832674
|
0.00164
|
|
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile)
|
rs148091558
|
0.00163
|
|
NM_000298.6(PKLR):c.814C>G (p.Leu272Val)
|
rs147659527
|
0.00163
|
|
NM_000532.5(PCCB):c.774C>G (p.His258Gln)
|
rs141615209
|
0.00163
|
|
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
|
NM_001042413.2(GLIS3):c.1191G>C (p.Gln397His)
|
rs138497710
|
0.00163
|
|
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)
|
rs141399869
|
0.00163
|
|
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)
|
rs141417436
|
0.00163
|
|
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly)
|
rs121908854
|
0.00163
|
|
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro)
|
rs149096794
|
0.00163
|
|
NM_002900.3(RBP3):c.418G>A (p.Gly140Ser)
|
rs34932849
|
0.00163
|
|
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)
|
rs45568335
|
0.00163
|
|
NM_013435.3(RAX):c.290-4C>A
|
rs200338566
|
0.00163
|
|
NM_080911.3(UNG):c.533+6G>A
|
rs55812333
|
0.00163
|
|
NM_138295.5(PKD1L1):c.3475T>C (p.Tyr1159His)
|
rs111983425
|
0.00163
|
|
NM_144631.6(ZNF513):c.290C>T (p.Ala97Val)
|
rs35554630
|
0.00163
|
|
NM_201548.5(CERKL):c.820+9G>A
|
rs189638090
|
0.00163
|
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
|
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val)
|
rs143933602
|
0.00162
|
|
NM_003906.5(MCM3AP):c.1267A>G (p.Thr423Ala)
|
rs144151494
|
0.00162
|
|
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=)
|
rs141859450
|
0.00162
|
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
|
NM_032409.3(PINK1):c.165G>A (p.Glu55=)
|
rs537679886
|
0.00162
|
|
NM_144508.5(KNL1):c.4379T>C (p.Ile1460Thr)
|
rs187007187
|
0.00162
|
|
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)
|
rs149871493
|
0.00162
|
|
NM_001083961.2(WDR62):c.253G>A (p.Val85Met)
|
rs146274964
|
0.00161
|
|
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)
|
rs112884419
|
0.00161
|
|
NM_004793.4(LONP1):c.767C>T (p.Ala256Val)
|
rs116591583
|
0.00161
|
|
NM_000185.4(SERPIND1):c.842T>C (p.Ile281Thr)
|
rs145370736
|
0.00160
|
|
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)
|
rs200936863
|
0.00160
|
|
NM_001397406.1(FDX2):c.299A>G (p.Asp100Gly)
|
rs142729488
|
0.00160
|
|
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe)
|
rs145433186
|
0.00160
|
|
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn)
|
rs143730090
|
0.00160
|
|
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)
|
rs149772470
|
0.00160
|
|
NM_005609.4(PYGM):c.1888G>A (p.Val630Met)
|
rs115347245
|
0.00160
|
|
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys)
|
rs116180923
|
0.00160
|
|
NM_005726.6(TSFM):c.797T>A (p.Leu266His)
|
rs146777264
|
0.00160
|
|
NM_020191.4(MRPS22):c.617C>T (p.Thr206Ile)
|
rs76148008
|
0.00160
|
|
NM_024079.5(ALG8):c.96-6G>C
|
rs199911532
|
0.00160
|
|
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)
|
rs199755408
|
0.00159
|
|
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys)
|
rs112237881
|
0.00159
|
|
NM_000666.3(ACY1):c.1177C>T (p.Arg393Cys)
|
rs6804746
|
0.00159
|
|
NM_001199799.2(ILDR1):c.227C>T (p.Ala76Val)
|
rs143072070
|
0.00159
|
|
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr)
|
rs143912353
|
0.00159
|
|
NM_001966.4(EHHADH):c.1666A>G (p.Arg556Gly)
|
rs140735525
|
0.00159
|
|
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala)
|
rs112170602
|
0.00159
|
|
NM_005502.4(ABCA1):c.2543-3C>T
|
rs139457469
|
0.00159
|
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
|
NM_173689.7(CRB2):c.3128C>T (p.Ser1043Phe)
|
rs35578485
|
0.00159
|
|
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)
|
rs4150319
|
0.00158
|
|
NM_000350.3(ABCA4):c.574G>A (p.Ala192Thr)
|
rs61748535
|
0.00158
|
|
NM_001145715.3(KPNA7):c.1317+3G>A
|
rs138176387
|
0.00158
|
|
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu)
|
rs143473183
|
0.00158
|
|
NM_001164688.2(RD3):c.494A>C (p.Asp165Ala)
|
rs149051185
|
0.00158
|
|
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met)
|
rs148616345
|
0.00158
|
|
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)
|
rs140782270
|
0.00158
|
|
NM_014629.4(ARHGEF10):c.1631A>T (p.Gln544Leu)
|
rs148715187
|
0.00158
|
|
NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr)
|
rs146466185
|
0.00158
|
|
NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met)
|
rs140778634
|
0.00158
|
|
NM_025009.5(CEP135):c.2767G>A (p.Glu923Lys)
|
rs145959811
|
0.00158
|
|
NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met)
|
rs147233112
|
0.00158
|
|
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala)
|
rs139453594
|
0.00157
|
|
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)
|
rs142679083
|
0.00157
|
|
NM_001206744.2(TPO):c.2715_2724dup (p.Ala909fs)
|
rs554989865
|
0.00157
|
|
NM_004525.3(LRP2):c.6473A>C (p.Asn2158Thr)
|
rs34052957
|
0.00157
|
|
NM_030787.4(CFHR5):c.622T>C (p.Cys208Arg)
|
rs41299613
|
0.00157
|
|
NM_030928.4(CDT1):c.1546C>T (p.Arg516Cys)
|
rs144721725
|
0.00157
|
|
NM_001142864.4(PIEZO1):c.4363G>A (p.Ala1455Thr)
|
rs191656121
|
0.00156
|
|
NM_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys)
|
rs200929552
|
0.00156
|
|
NM_003721.4(RFXANK):c.95C>T (p.Ala32Val)
|
rs114064359
|
0.00156
|
|
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)
|
rs115961753
|
0.00156
|
|
NM_006517.5(SLC16A2):c.949C>T (p.Arg317Cys)
|
rs144755294
|
0.00156
|
|
NM_015175.3(NBEAL2):c.3384+5G>A
|
rs370559049
|
0.00156
|
|
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu)
|
rs143529486
|
0.00156
|
|
NM_017775.4(TTC19):c.898A>C (p.Ile300Leu)
|
rs143293913
|
0.00156
|
|
NM_022098.4(XPNPEP3):c.590-8A>G
|
rs143719656
|
0.00156
|
|
NM_032856.5(WDR73):c.935G>A (p.Arg312Gln)
|
rs201294090
|
0.00156
|
|
NM_000443.4(ABCB4):c.712C>G (p.Leu238Val)
|
rs45596335
|
0.00155
|
|
NM_001003722.2(GLE1):c.1393T>A (p.Ser465Thr)
|
rs141709685
|
0.00155
|
|
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg)
|
rs144494437
|
0.00155
|
|
NM_002187.3(IL12B):c.283G>A (p.Glu95Lys)
|
rs56287471
|
0.00155
|
|
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr)
|
rs1805378
|
0.00155
|
|
NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg)
|
rs114782902
|
0.00155
|
|
NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys)
|
rs79295927
|
0.00155
|
|
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser)
|
rs147586703
|
0.00155
|
|
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala)
|
rs61760167
|
0.00154
|
|
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser)
|
rs144230667
|
0.00154
|
|
NM_003737.4(DCHS1):c.4555C>T (p.Pro1519Ser)
|
rs199544459
|
0.00154
|
|
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr)
|
rs139659618
|
0.00154
|
|
NM_032447.5(FBN3):c.4847G>A (p.Cys1616Tyr)
|
rs141592778
|
0.00154
|
|
NM_000040.3(APOC3):c.55+1G>A
|
rs138326449
|
0.00153
|
|
NM_000294.3(PHKG2):c.393G>A (p.Arg131=)
|
rs55751949
|
0.00153
|
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
|
NM_001330078.2(NRXN1):c.772+1078A>G
|
rs144049982
|
0.00153
|
|
NM_001498.4(GCLC):c.1039G>A (p.Asp347Asn)
|
rs80120302
|
0.00153
|
|
NM_003193.5(TBCE):c.194C>A (p.Thr65Lys)
|
rs144747353
|
0.00153
|
|
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser)
|
rs151316028
|
0.00153
|
|
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr)
|
rs200382813
|
0.00153
|
|
NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln)
|
rs143822761
|
0.00153
|
|
NM_020461.4(TUBGCP6):c.3490G>A (p.Val1164Met)
|
rs9628306
|
0.00153
|
|
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)
|
rs140234219
|
0.00153
|
|
NM_025137.4(SPG11):c.4744-6T>C
|
rs147550048
|
0.00153
|
|
NM_032242.4(PLXNA1):c.4903A>G (p.Ser1635Gly)
|
rs147504334
|
0.00153
|
|
NM_138386.3(NAF1):c.1478A>C (p.Tyr493Ser)
|
rs143001503
|
0.00153
|
|
NM_139315.3(TAF6):c.1396G>T (p.Ala466Ser)
|
rs144875978
|
0.00153
|
|
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met)
|
rs78028658
|
0.00153
|
|
NM_000327.4(ROM1):c.81G>T (p.Leu27=)
|
rs148196509
|
0.00152
|
|
NM_000687.4(AHCY):c.853C>T (p.Arg285Trp)
|
rs116846245
|
0.00152
|
|
NM_000789.4(ACE):c.209C>T (p.Ala70Val)
|
rs372565955
|
0.00152
|
|
NM_004525.3(LRP2):c.9477G>A (p.Met3159Ile)
|
rs144322413
|
0.00152
|
|
NM_004563.4(PCK2):c.1405C>T (p.Arg469Cys)
|
rs141383988
|
0.00152
|
|
NM_006017.3(PROM1):c.1345G>A (p.Val449Met)
|
rs200620291
|
0.00152
|
|
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)
|
rs61747068
|
0.00152
|
|
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)
|
rs147494464
|
0.00152
|
|
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn)
|
rs142232675
|
0.00152
|
|
NM_020987.5(ANK3):c.4465C>T (p.Pro1489Ser)
|
rs41274676
|
0.00152
|
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
|
NM_001064.4(TKT):c.1177T>C (p.Phe393Leu)
|
rs138820989
|
0.00151
|
|
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln)
|
rs144060377
|
0.00151
|
|
NM_001171155.2(PET100):c.74A>G (p.Asn25Ser)
|
rs184325854
|
0.00151
|
|
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met)
|
rs10034957
|
0.00151
|
|
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp)
|
rs35155575
|
0.00151
|
|
NM_001905.4(CTPS1):c.1276C>G (p.Pro426Ala)
|
rs139322260
|
0.00151
|
|
NM_004994.3(MMP9):c.773C>T (p.Thr258Ile)
|
rs41529445
|
0.00151
|
|
NM_005993.5(TBCD):c.2566A>G (p.Met856Val)
|
rs202149526
|
0.00151
|
|
NM_014967.5(FAN1):c.2071G>C (p.Glu691Gln)
|
rs111476645
|
0.00151
|
|
NM_015175.3(NBEAL2):c.1634C>T (p.Ser545Leu)
|
rs201749187
|
0.00151
|
|
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=)
|
rs145704211
|
0.00151
|
|
NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser)
|
rs61995897
|
0.00151
|
|
NM_022081.6(HPS4):c.445A>G (p.Asn149Asp)
|
rs140430822
|
0.00151
|
|
NM_024101.7(MLPH):c.1240G>C (p.Glu414Gln)
|
rs61737688
|
0.00151
|
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
|
NM_000637.5(GSR):c.866T>C (p.Val289Ala)
|
rs151187899
|
0.00150
|
|
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile)
|
rs142295786
|
0.00150
|
|
NM_001128431.4(SLC39A14):c.23C>G (p.Pro8Arg)
|
rs34328787
|
0.00150
|
|
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val)
|
rs148337824
|
0.00150
|
|
NM_001372.4(DNAH9):c.12835G>A (p.Gly4279Ser)
|
rs78845357
|
0.00150
|
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
|
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr)
|
rs3212977
|
0.00150
|
|
NM_002253.4(KDR):c.1615G>A (p.Gly539Arg)
|
rs55716939
|
0.00150
|
|
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)
|
rs141868117
|
0.00150
|
|
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr)
|
rs142476892
|
0.00150
|
|
NM_017433.5(MYO3A):c.1275G>A (p.Gln425=)
|
rs77562287
|
0.00150
|
|
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)
|
rs145804755
|
0.00150
|
|
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln)
|
rs145726393
|
0.00150
|
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
|
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala)
|
rs140542428
|
0.00149
|
|
NM_000536.4(RAG2):c.1504A>G (p.Met502Val)
|
rs145614809
|
0.00149
|
|
NM_001242908.2(RSPO1):c.658C>T (p.Arg220Trp)
|
rs182482113
|
0.00149
|
|
NM_001318789.2(TLR2):c.271A>G (p.Ile91Val)
|
rs116232047
|
0.00149
|
|
NM_001486.4(GCKR):c.1135dup (p.Thr379fs)
|
rs573498430
|
0.00149
|
|
NM_003322.6(TULP1):c.1297G>A (p.Glu433Lys)
|
rs74461100
|
0.00149
|
|
NM_004793.4(LONP1):c.742G>A (p.Asp248Asn)
|
rs149169865
|
0.00149
|
|
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)
|
rs142486386
|
0.00149
|
|
NM_032380.5(GFM2):c.1234C>T (p.Arg412Cys)
|
rs142425196
|
0.00149
|
|
NM_000073.3(CD3G):c.158T>C (p.Ile53Thr)
|
rs142915569
|
0.00148
|
|
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)
|
rs138443479
|
0.00148
|
|
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val)
|
rs117440569
|
0.00148
|
|
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)
|
rs148072630
|
0.00148
|
|
NM_001353214.3(DYM):c.620+4T>G
|
rs201652921
|
0.00148
|
|
NM_001366722.1(GRIP1):c.1645A>G (p.Ile549Val)
|
rs201867922
|
0.00148
|
|
NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln)
|
rs200484625
|
0.00148
|
|
NM_001457.4(FLNB):c.6683T>C (p.Ile2228Thr)
|
rs149629209
|
0.00148
|
|
NM_003036.4(SKI):c.1196C>T (p.Ala399Val)
|
rs141862996
|
0.00148
|
|
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr)
|
rs147693556
|
0.00148
|
|
NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn)
|
rs144916324
|
0.00148
|
|
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser)
|
rs116841148
|
0.00148
|
|
NM_012418.4(FSCN2):c.1230C>T (p.Asp410=)
|
rs182593453
|
0.00148
|
|
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg)
|
rs143260721
|
0.00148
|
|
NM_020207.7(ERCC6L2):c.163T>G (p.Leu55Val)
|
rs141719745
|
0.00148
|
|
NM_145200.5(CABP4):c.155G>A (p.Arg52Gln)
|
rs145789542
|
0.00148
|
|
NM_001042413.2(GLIS3):c.496C>G (p.Pro166Ala)
|
rs141467694
|
0.00147
|
|
NM_001142864.4(PIEZO1):c.2409G>C (p.Gln803His)
|
rs200029740
|
0.00147
|
|
NM_001160372.4(TRAPPC9):c.3421G>A (p.Val1141Met)
|
rs140157207
|
0.00147
|
|
NM_001350162.2(TEX15):c.9223G>A (p.Gly3075Arg)
|
rs150606321
|
0.00147
|
|
NM_001355436.2(SPTB):c.5750C>T (p.Ser1917Phe)
|
rs149678681
|
0.00147
|
|
NM_001365308.1(BMPER):c.220A>G (p.Asn74Asp)
|
rs144030074
|
0.00147
|
|
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu)
|
rs189438534
|
0.00147
|
|
NM_002291.3(LAMB1):c.1945G>A (p.Asp649Asn)
|
rs142386151
|
0.00147
|
|
NM_002476.2(MYL4):c.167T>C (p.Phe56Ser)
|
rs144870368
|
0.00147
|
|
NM_004183.4(BEST1):c.637-6C>T
|
rs62639356
|
0.00147
|
|
NM_006660.5(CLPX):c.1463T>C (p.Ile488Thr)
|
rs35754835
|
0.00147
|
|
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp)
|
rs142990800
|
0.00147
|
|
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr)
|
rs121908326
|
0.00147
|
|
NM_015909.4(NBAS):c.4358G>A (p.Cys1453Tyr)
|
rs148644578
|
0.00147
|
|
NM_023083.4(CAPN10):c.959C>T (p.Pro320Leu)
|
rs140681762
|
0.00147
|
|
NM_024876.4(COQ8B):c.344T>C (p.Met115Thr)
|
rs148374624
|
0.00147
|
|
NM_144991.3(TSPEAR):c.1566+5G>A
|
rs117034581
|
0.00147
|
|
NM_145725.3(TRAF3):c.352C>T (p.Arg118Trp)
|
rs143813189
|
0.00147
|
|
NM_194318.4(B3GLCT):c.1371A>G (p.Gln457=)
|
rs114941150
|
0.00147
|
|
NM_198129.4(LAMA3):c.8851C>T (p.Arg2951Cys)
|
rs61752346
|
0.00147
|
|
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)
|
rs77820367
|
0.00146
|
|
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys)
|
rs187662524
|
0.00146
|
|
NM_001278182.2(EOMES):c.436C>T (p.Leu146Phe)
|
rs200215171
|
0.00146
|
|
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)
|
rs147688221
|
0.00146
|
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
|
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn)
|
rs141553756
|
0.00146
|
|
NM_002591.4(PCK1):c.1642G>A (p.Ala548Thr)
|
rs148684857
|
0.00146
|
|
NM_006379.5(SEMA3C):c.688C>T (p.Pro230Ser)
|
rs138522639
|
0.00146
|
|
NM_006901.4(MYO9A):c.3257G>A (p.Arg1086His)
|
rs75986913
|
0.00146
|
|
NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg)
|
rs148701985
|
0.00146
|
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
|
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu)
|
rs146588336
|
0.00145
|
|
NM_000398.7(CYB5R3):c.890G>A (p.Arg297His)
|
rs76458556
|
0.00145
|
|
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)
|
rs147415774
|
0.00145
|
|
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=)
|
rs185574478
|
0.00145
|
|
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val)
|
rs145639192
|
0.00145
|
|
NM_001543.5(NDST1):c.239G>A (p.Arg80His)
|
rs145390254
|
0.00145
|
|
NM_004817.4(TJP2):c.61-6A>T
|
rs200415824
|
0.00145
|
|
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe)
|
rs76881554
|
0.00145
|
|
NM_014264.5(PLK4):c.17G>A (p.Gly6Glu)
|
rs149003893
|
0.00145
|
|
NM_015275.3(WASHC4):c.878G>A (p.Arg293Gln)
|
rs35267264
|
0.00145
|
|
NM_018341.3(ERMARD):c.1246G>A (p.Val416Ile)
|
rs143351214
|
0.00145
|
|
NM_022095.4(ZNF335):c.1418G>A (p.Arg473His)
|
rs137901051
|
0.00145
|
|
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)
|
rs146954342
|
0.00145
|
|
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=)
|
rs141787212
|
0.00145
|
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
|
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile)
|
rs147851214
|
0.00145
|
|
NM_181741.4(ORC4):c.1090G>A (p.Val364Ile)
|
rs138876526
|
0.00145
|
|
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)
|
rs139061260
|
0.00144
|
|
NM_001127208.3(TET2):c.521C>A (p.Pro174His)
|
rs146031219
|
0.00144
|
|
NM_002185.5(IL7R):c.778G>A (p.Ala260Thr)
|
rs147153824
|
0.00144
|
|
NM_005562.3(LAMC2):c.889A>G (p.Thr297Ala)
|
rs143817389
|
0.00144
|
|
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu)
|
rs34227834
|
0.00144
|
|
NM_152564.5(VPS13B):c.3116T>C (p.Met1039Thr)
|
rs140015545
|
0.00144
|
|
NM_182476.3(COQ6):c.395A>G (p.Asp132Gly)
|
rs45496292
|
0.00144
|
|
NM_000030.3(AGXT):c.866G>A (p.Arg289His)
|
rs61729604
|
0.00143
|
|
NM_000436.4(OXCT1):c.1491C>T (p.Asp497=)
|
rs144283422
|
0.00143
|
|
NM_001017995.3(SH3PXD2B):c.1955C>T (p.Thr652Met)
|
rs148050566
|
0.00143
|
|
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu)
|
rs146264035
|
0.00143
|
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
|
NM_004525.3(LRP2):c.7406A>G (p.Asp2469Gly)
|
rs116507519
|
0.00143
|
|
NM_012301.4(MAGI2):c.219C>T (p.Pro73=)
|
rs148240352
|
0.00143
|
|
NM_014639.4(SKIC3):c.2275C>T (p.Leu759Phe)
|
rs145496449
|
0.00143
|
|
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr)
|
rs117502839
|
0.00143
|
|
NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro)
|
rs146115506
|
0.00143
|
|
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met)
|
rs55698015
|
0.00142
|
|
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu)
|
rs141155976
|
0.00142
|
|
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser)
|
rs80338805
|
0.00142
|
|
NM_003737.4(DCHS1):c.1493G>A (p.Arg498Gln)
|
rs150834672
|
0.00142
|
|
NM_006949.4(STXBP2):c.1455C>T (p.Asp485=)
|
rs146425381
|
0.00142
|
|
NM_015425.6(POLR1A):c.1097C>T (p.Ser366Phe)
|
rs183490100
|
0.00142
|
|
NM_139125.4(MASP1):c.674A>G (p.Asn225Ser)
|
rs145045341
|
0.00142
|
|
NM_000213.5(ITGB4):c.4489C>T (p.Arg1497Cys)
|
rs148205043
|
0.00141
|
|
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)
|
rs199813223
|
0.00141
|
|
NM_001080453.3(INTS1):c.6248T>G (p.Phe2083Cys)
|
rs201675191
|
0.00141
|
|
NM_001089.3(ABCA3):c.839G>A (p.Arg280His)
|
rs143008553
|
0.00141
|
|
NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met)
|
rs111450526
|
0.00141
|
|
NM_001374736.1(DST):c.21538A>G (p.Met7180Val)
|
rs200006386
|
0.00141
|
|
NM_001382347.1(MYO5A):c.5093C>T (p.Ser1698Leu)
|
rs9282796
|
0.00141
|
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
|
NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln)
|
rs139671268
|
0.00141
|
|
NM_006567.5(FARS2):c.506A>T (p.Asp169Val)
|
rs146356199
|
0.00141
|
|
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys)
|
rs41304587
|
0.00141
|
|
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg)
|
rs572671060
|
0.00141
|
|
NM_017721.5(CC2D1A):c.2372G>A (p.Arg791Gln)
|
rs200354654
|
0.00141
|
|
NM_020812.4(DOCK6):c.133G>A (p.Val45Ile)
|
rs183060698
|
0.00141
|
|
NM_207361.6(FREM2):c.5642-9T>C
|
rs148794835
|
0.00141
|
|
NM_000130.5(F5):c.2222A>G (p.Asn741Ser)
|
rs144979314
|
0.00140
|
|
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala)
|
rs6007
|
0.00140
|
|
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)
|
rs147493628
|
0.00140
|
|
NM_000301.5(PLG):c.1469G>A (p.Arg490Gln)
|
rs140537724
|
0.00140
|
|
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=)
|
rs190336010
|
0.00140
|
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
|
NM_001291303.3(FAT4):c.3424G>A (p.Val1142Met)
|
rs202188213
|
0.00140
|
|
NM_001292063.2(OTOG):c.311A>G (p.Asn104Ser)
|
rs534942001
|
0.00140
|
|
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg)
|
rs753664726
|
0.00140
|
|
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His)
|
rs202106628
|
0.00140
|
|
NM_005186.4(CAPN1):c.1474G>A (p.Gly492Arg)
|
rs17883283
|
0.00140
|
|
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly)
|
rs145404396
|
0.00140
|
|
NM_014244.5(ADAMTS2):c.139+4G>A
|
rs1023653032
|
0.00140
|
|
NM_014727.3(KMT2B):c.2268_2279dup (p.Gln759_Pro762dup)
|
rs564202766
|
0.00140
|
|
NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile)
|
rs144870163
|
0.00140
|
|
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His)
|
rs112762655
|
0.00140
|
|
NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu)
|
rs139844197
|
0.00140
|
|
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys)
|
rs200510462
|
0.00140
|
|
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=)
|
rs113938044
|
0.00140
|
|
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)
|
rs41273722
|
0.00140
|
|
NM_173483.4(CYP4F22):c.463C>T (p.His155Tyr)
|
rs141382984
|
0.00140
|
|
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)
|
rs145062583
|
0.00139
|
|
NM_000601.6(HGF):c.137C>T (p.Ala46Val)
|
rs150267054
|
0.00139
|
|
NM_001557.4(CXCR2):c.458G>A (p.Arg153His)
|
rs55799208
|
0.00139
|
|
NM_004525.3(LRP2):c.2178G>T (p.Leu726Phe)
|
rs144451000
|
0.00139
|
|
NM_033100.4(CDHR1):c.1553+6T>C
|
rs199567321
|
0.00139
|
|
NM_000043.6(FAS):c.580G>A (p.Glu194Lys)
|
rs56006128
|
0.00138
|
|
NM_000094.4(COL7A1):c.1613G>A (p.Arg538His)
|
rs138791004
|
0.00138
|
|
NM_000285.4(PEPD):c.104G>A (p.Arg35Gln)
|
rs200435937
|
0.00138
|
|
NM_000506.3(F2):c.598G>A (p.Glu200Lys)
|
rs62623459
|
0.00138
|
|
NM_001041.4(SI):c.1043C>T (p.Pro348Leu)
|
rs77546399
|
0.00138
|
|
NM_001080414.4(CCDC88C):c.5296G>A (p.Val1766Met)
|
rs201931182
|
0.00138
|
|
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser)
|
rs199784029
|
0.00138
|
|
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys)
|
rs367630521
|
0.00138
|
|
NM_002408.4(MGAT2):c.99G>T (p.Lys33Asn)
|
rs140584714
|
0.00138
|
|
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn)
|
rs140996453
|
0.00138
|
|
NM_005198.5(CHKB):c.457T>C (p.Leu153=)
|
rs146693439
|
0.00138
|
|
NM_017668.3(NDE1):c.948-2772T>C
|
rs143288748
|
0.00138
|
|
NM_017807.4(OSGEP):c.355C>T (p.Leu119Phe)
|
rs147548960
|
0.00138
|
|
NM_020661.4(AICDA):c.299G>C (p.Gly100Ala)
|
rs201210527
|
0.00138
|
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
|
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu)
|
rs150248985
|
0.00138
|
|
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)
|
rs145720191
|
0.00137
|
|
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)
|
rs148623597
|
0.00137
|
|
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val)
|
rs556192193
|
0.00137
|
|
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)
|
rs201141958
|
0.00137
|
|
NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp)
|
rs114917863
|
0.00137
|
|
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu)
|
rs377368588
|
0.00137
|
|
NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met)
|
rs145080512
|
0.00137
|
|
NM_003737.4(DCHS1):c.4080G>A (p.Ala1360=)
|
rs372790303
|
0.00137
|
|
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp)
|
rs141433824
|
0.00137
|
|
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285
|
0.00137
|
|
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser)
|
rs202211640
|
0.00137
|
|
NM_000342.4(SLC4A1):c.1522G>A (p.Glu508Lys)
|
rs45568837
|
0.00136
|
|
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys)
|
rs200714434
|
0.00136
|
|
NM_001142864.4(PIEZO1):c.3793G>A (p.Asp1265Asn)
|
rs570106950
|
0.00136
|
|
NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys)
|
rs759725715
|
0.00136
|
|
NM_001395413.1(POR):c.975C>T (p.Ala325=)
|
rs72557941
|
0.00136
|
|
NM_002972.4(SBF1):c.2650C>G (p.Leu884Val)
|
rs202055128
|
0.00136
|
|
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)
|
rs535030441
|
0.00136
|
|
NM_007118.4(TRIO):c.41C>T (p.Ser14Phe)
|
rs905287265
|
0.00136
|
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
|
NM_024514.5(CYP2R1):c.4T>C (p.Trp2Arg)
|
rs199997444
|
0.00136
|
|
NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser)
|
rs145506099
|
0.00136
|
|
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)
|
rs143556945
|
0.00135
|
|
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)
|
rs139956524
|
0.00135
|
|
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln)
|
rs111722949
|
0.00135
|
|
NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser)
|
rs147963396
|
0.00135
|
|
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr)
|
rs150225103
|
0.00135
|
|
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg)
|
rs569602115
|
0.00135
|
|
NM_001369268.1(ACAN):c.199G>A (p.Ala67Thr)
|
rs182894280
|
0.00135
|
|
NM_003235.5(TG):c.1567T>C (p.Ser523Pro)
|
rs116062097
|
0.00135
|
|
NM_019892.6(INPP5E):c.21T>C (p.Asn7=)
|
rs571588033
|
0.00135
|
|
NM_144508.5(KNL1):c.4772A>G (p.Asn1591Ser)
|
rs200656662
|
0.00135
|
|
NM_000355.4(TCN2):c.523G>A (p.Val175Met)
|
rs142791153
|
0.00134
|
|
NM_000483.5(APOC2):c.8C>T (p.Thr3Ile)
|
rs148343756
|
0.00134
|
|
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr)
|
rs143582502
|
0.00134
|
|
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)
|
rs114986640
|
0.00134
|
|
NM_003235.5(TG):c.3999C>G (p.Ile1333Met)
|
rs150728539
|
0.00134
|
|
NM_004998.4(MYO1E):c.1615C>A (p.Leu539Met)
|
rs139049058
|
0.00134
|
|
NM_005141.5(FGB):c.298C>T (p.Pro100Ser)
|
rs2227434
|
0.00134
|
|
NM_005883.3(APC2):c.4958G>A (p.Arg1653Gln)
|
rs555371409
|
0.00134
|
|
NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys)
|
rs61751493
|
0.00134
|
|
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg)
|
rs148978269
|
0.00133
|
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
|
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)
|
rs61749440
|
0.00133
|
|
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)
|
rs138976576
|
0.00133
|
|
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser)
|
rs117620008
|
0.00133
|
|
NM_001114134.2(EPB42):c.1672G>A (p.Glu558Lys)
|
rs75424023
|
0.00133
|
|
NM_001142800.2(EYS):c.6547A>G (p.Ser2183Gly)
|
rs368458853
|
0.00133
|
|
NM_001235.5(SERPINH1):c.1219G>C (p.Val407Leu)
|
rs138241050
|
0.00133
|
|
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr)
|
rs76792613
|
0.00133
|
|
NM_001379500.1(COL18A1):c.3920C>T (p.Ser1307Leu)
|
rs61735035
|
0.00133
|
|
NM_001384474.1(LOXHD1):c.1961C>T (p.Pro654Leu)
|
rs369297699
|
0.00133
|
|
NM_001388492.1(HTT):c.3244G>C (p.Asp1082His)
|
rs1065746
|
0.00133
|
|
NM_001625.4(AK2):c.49C>G (p.Arg17Gly)
|
rs138577419
|
0.00133
|
|
NM_002435.3(MPI):c.10C>T (p.Pro4Ser)
|
rs143982014
|
0.00133
|
|
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser)
|
rs141553918
|
0.00133
|
|
NM_004525.3(LRP2):c.3110G>A (p.Arg1037Lys)
|
rs147058423
|
0.00133
|
|
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)
|
rs142736845
|
0.00133
|
|
NM_020944.3(GBA2):c.815T>C (p.Val272Ala)
|
rs142602400
|
0.00133
|
|
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu)
|
rs199510509
|
0.00133
|
|
NM_181712.5(KANK4):c.2401T>C (p.Tyr801His)
|
rs145623004
|
0.00133
|
|
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)
|
rs111033393
|
0.00133
|
|
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr)
|
rs150570281
|
0.00132
|
|
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp)
|
rs139310448
|
0.00132
|
|
NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys)
|
rs150602845
|
0.00132
|
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
|
NM_001042646.3(TRAK1):c.866C>T (p.Ser289Leu)
|
rs145303759
|
0.00132
|
|
NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr)
|
rs77729067
|
0.00132
|
|
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn)
|
rs182151153
|
0.00132
|
|
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln)
|
rs140141633
|
0.00132
|
|
NM_004998.4(MYO1E):c.1135C>G (p.His379Asp)
|
rs150983259
|
0.00132
|
|
NM_005559.4(LAMA1):c.4550T>A (p.Val1517Asp)
|
rs146822562
|
0.00132
|
|
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser)
|
rs376451611
|
0.00132
|
|
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)
|
rs181626399
|
0.00132
|
|
NM_000428.3(LTBP2):c.3863G>T (p.Gly1288Val)
|
rs139481866
|
0.00131
|
|
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln)
|
rs145229115
|
0.00131
|
|
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala)
|
rs145163157
|
0.00131
|
|
NM_001164508.2(NEB):c.4463T>C (p.Met1488Thr)
|
rs201545521
|
0.00131
|
|
NM_001297.5(CNGB1):c.232G>A (p.Ala78Thr)
|
rs201407276
|
0.00131
|
|
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu)
|
rs547116063
|
0.00131
|
|
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln)
|
rs114664276
|
0.00131
|
|
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)
|
rs150966847
|
0.00131
|
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
|
NM_006015.6(ARID1A):c.5779G>C (p.Ala1927Pro)
|
rs143257313
|
0.00131
|
|
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)
|
rs142553916
|
0.00131
|
|
NM_014140.4(SMARCAL1):c.2528+5G>C
|
rs145908212
|
0.00131
|
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
|
NM_015202.5(KATNIP):c.2051C>A (p.Ser684Tyr)
|
rs144244281
|
0.00131
|
|
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe)
|
rs201369510
|
0.00131
|
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
|
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln)
|
rs34928857
|
0.00131
|
|
NM_182914.3(SYNE2):c.1447G>A (p.Glu483Lys)
|
rs200611311
|
0.00131
|
|
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn)
|
rs142272833
|
0.00130
|
|
NM_001363711.2(DUOX2):c.3232G>A (p.Val1078Met)
|
rs147772932
|
0.00130
|
|
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu)
|
rs104893968
|
0.00130
|
|
NM_001558.4(IL10RA):c.698T>G (p.Val233Gly)
|
rs138929400
|
0.00130
|
|
NM_002439.5(MSH3):c.2740A>G (p.Ile914Val)
|
rs148633216
|
0.00130
|
|
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543
|
0.00130
|
|
NM_017553.3(INO80):c.3842G>A (p.Arg1281Gln)
|
rs141223506
|
0.00130
|
|
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile)
|
rs35555197
|
0.00130
|
|
NM_020661.4(AICDA):c.427+4C>T
|
rs201180477
|
0.00130
|
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
|
NM_138477.4(CDAN1):c.2735C>T (p.Ala912Val)
|
rs143086237
|
0.00130
|
|
NM_000305.3(PON2):c.358A>G (p.Ile120Val)
|
rs116397473
|
0.00129
|
|
NM_000392.5(ABCC2):c.3026T>C (p.Ile1009Thr)
|
rs57351269
|
0.00129
|
|
NM_000541.5(SAG):c.31G>A (p.Glu11Lys)
|
rs200078242
|
0.00129
|
|
NM_001256545.2(MEGF10):c.1626C>T (p.Cys542=)
|
rs146902993
|
0.00129
|
|
NM_001492.6(GDF1):c.55C>G (p.Leu19Val)
|
rs370986101
|
0.00129
|
|
NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr)
|
rs121909075
|
0.00129
|
|
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)
|
rs139872089
|
0.00129
|
|
NM_017654.4(SAMD9):c.4724G>A (p.Gly1575Glu)
|
rs148724199
|
0.00129
|
|
NM_024642.5(GALNT12):c.907G>A (p.Asp303Asn)
|
rs145236923
|
0.00129
|
|
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys)
|
rs140328152
|
0.00129
|
|
NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile)
|
rs150016894
|
0.00129
|
|
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)
|
rs72660870
|
0.00129
|
|
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn)
|
rs73167107
|
0.00128
|
|
NM_001006658.3(CR2):c.2903-3C>A
|
rs372214909
|
0.00128
|
|
NM_001036.6(RYR3):c.2486G>A (p.Arg829His)
|
rs199500216
|
0.00128
|
|
NM_001379081.2(FREM1):c.795C>A (p.Asp265Glu)
|
rs140222993
|
0.00128
|
|
NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp)
|
rs35853292
|
0.00128
|
|
NM_002439.5(MSH3):c.1313C>T (p.Ala438Val)
|
rs35121792
|
0.00128
|
|
NM_002626.6(PFKL):c.2209C>T (p.Arg737Trp)
|
rs118106526
|
0.00128
|
|
NM_004530.6(MMP2):c.1858G>A (p.Val620Ile)
|
rs41459945
|
0.00128
|
|
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)
|
rs145564837
|
0.00128
|
|
NM_005559.4(LAMA1):c.181G>A (p.Val61Ile)
|
rs147676957
|
0.00128
|
|
NM_014875.3(KIF14):c.346G>A (p.Glu116Lys)
|
rs141768593
|
0.00128
|
|
NM_020376.4(PNPLA2):c.1220C>T (p.Ser407Phe)
|
rs202081894
|
0.00128
|
|
NM_194318.4(B3GLCT):c.1207G>A (p.Val403Ile)
|
rs147485868
|
0.00128
|
|
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val)
|
rs41562713
|
0.00127
|
|
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=)
|
rs61736168
|
0.00127
|
|
NM_001292063.2(OTOG):c.7510G>A (p.Ala2504Thr)
|
rs548278514
|
0.00127
|
|
NM_001388419.1(KALRN):c.5182+21760C>T
|
rs56407180
|
0.00127
|
|
NM_002234.4(KCNA5):c.1595C>T (p.Pro532Leu)
|
rs17221812
|
0.00127
|
|
NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp)
|
rs140524715
|
0.00127
|
|
NM_006946.4(SPTBN2):c.5980C>T (p.Arg1994Trp)
|
rs140000699
|
0.00127
|
|
NM_014239.4(EIF2B2):c.380C>T (p.Ala127Val)
|
rs150617429
|
0.00127
|
|
NM_014687.4(RUBCN):c.430G>A (p.Gly144Arg)
|
rs115638090
|
0.00127
|
|
NM_015466.4(PTPN23):c.257C>T (p.Ser86Leu)
|
rs149197378
|
0.00127
|
|
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)
|
rs144973796
|
0.00127
|
|
NM_025137.4(SPG11):c.2887A>C (p.Arg963=)
|
rs150689014
|
0.00127
|
|
NM_194248.3(OTOF):c.578G>T (p.Arg193Ile)
|
rs139779680
|
0.00127
|
|
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=)
|
rs139698110
|
0.00126
|
|
NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln)
|
rs184249075
|
0.00126
|
|
NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu)
|
rs190791051
|
0.00126
|
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
|
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn)
|
rs148797987
|
0.00126
|
|
NM_002291.3(LAMB1):c.1736G>A (p.Arg579Gln)
|
rs115518856
|
0.00126
|
|
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val)
|
rs144289912
|
0.00126
|
|
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His)
|
rs104894951
|
0.00126
|
|
NM_004947.5(DOCK3):c.5020A>T (p.Met1674Leu)
|
rs142515812
|
0.00126
|
|
NM_005559.4(LAMA1):c.6250C>T (p.Arg2084Trp)
|
rs146111631
|
0.00126
|
|
NM_005876.5(SPEG):c.6358C>T (p.Leu2120Phe)
|
rs201901718
|
0.00126
|
|
NM_006121.4(KRT1):c.982A>T (p.Thr328Ser)
|
rs139428176
|
0.00126
|
|
NM_020632.3(ATP6V0A4):c.1048A>G (p.Met350Val)
|
rs76977934
|
0.00126
|
|
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)
|
rs116046810
|
0.00126
|
|
NM_033004.4(NLRP1):c.1732G>A (p.Gly578Ser)
|
rs115799546
|
0.00126
|
|
NM_133261.3(GIPC3):c.856G>A (p.Val286Ile)
|
rs138339125
|
0.00126
|
|
NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile)
|
rs150807452
|
0.00126
|
|
NM_000036.3(AMPD1):c.381+1G>C
|
rs143303736
|
0.00125
|
|
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)
|
rs372821643
|
0.00125
|
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
|
NM_000327.4(ROM1):c.47G>A (p.Arg16His)
|
rs143166696
|
0.00125
|
|
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe)
|
rs138630815
|
0.00125
|
|
NM_000628.5(IL10RB):c.442G>A (p.Val148Met)
|
rs45545138
|
0.00125
|
|
NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser)
|
rs10227922
|
0.00125
|
|
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser)
|
rs201044013
|
0.00125
|
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
|
NM_001369369.1(FOXN1):c.546C>T (p.Asn182=)
|
rs62640040
|
0.00125
|
|
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly)
|
rs529972175
|
0.00125
|
|
NM_001698.3(AUH):c.381A>G (p.Ile127Met)
|
rs146227896
|
0.00125
|
|
NM_001813.3(CENPE):c.326C>G (p.Ala109Gly)
|
rs115065523
|
0.00125
|
|
NM_002185.5(IL7R):c.339A>C (p.Glu113Asp)
|
rs11567735
|
0.00125
|
|
NM_014028.4(OSTM1):c.143C>G (p.Ser48Trp)
|
rs201176284
|
0.00125
|
|
NM_018714.3(COG1):c.401C>T (p.Ser134Leu)
|
rs146066919
|
0.00125
|
|
NM_030928.4(CDT1):c.514C>T (p.Arg172Cys)
|
rs3218727
|
0.00125
|
|
NM_032409.3(PINK1):c.67G>A (p.Gly23Ser)
|
rs551542832
|
0.00125
|
|
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)
|
rs150149784
|
0.00124
|
|
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu)
|
rs201062903
|
0.00124
|
|
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp)
|
rs61758863
|
0.00124
|
|
NM_000140.5(FECH):c.185C>G (p.Pro62Arg)
|
rs150830931
|
0.00124
|
|
NM_000151.4(G6PC1):c.340+10C>A
|
rs368450665
|
0.00124
|
|
NM_000153.4(GALC):c.1489+3G>A
|
rs186664912
|
0.00124
|
|
NM_001042702.5(PJVK):c.250T>A (p.Ser84Thr)
|
rs200507933
|
0.00124
|
|
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=)
|
rs772339340
|
0.00124
|
|
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)
|
rs188093810
|
0.00124
|
|
NM_001387430.1(SH2B1):c.269C>A (p.Pro90His)
|
rs149091795
|
0.00124
|
|
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter)
|
rs144321381
|
0.00124
|
|
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val)
|
rs201931833
|
0.00124
|
|
NM_004727.3(SLC24A1):c.2445C>T (p.His815=)
|
rs185027365
|
0.00124
|
|
NM_006214.4(PHYH):c.601C>G (p.Arg201Gly)
|
rs143957922
|
0.00124
|
|
NM_006261.5(PROP1):c.471C>T (p.Tyr157=)
|
rs145883811
|
0.00124
|
|
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=)
|
rs143511306
|
0.00124
|
|
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe)
|
rs200542052
|
0.00124
|
|
NM_000352.6(ABCC8):c.1177-56G>A
|
rs183921963
|
0.00123
|
|
NM_000642.3(AGL):c.968G>A (p.Arg323Gln)
|
rs139399527
|
0.00123
|
|
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg)
|
rs141518457
|
0.00123
|
|
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=)
|
rs201825451
|
0.00123
|
|
NM_003865.3(HESX1):c.525G>A (p.Ala175=)
|
rs141063672
|
0.00123
|
|
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser)
|
rs79179577
|
0.00123
|
|
NM_005535.3(IL12RB1):c.1172C>T (p.Pro391Leu)
|
rs140254802
|
0.00123
|
|
NM_005612.5(REST):c.2855A>G (p.Asp952Gly)
|
rs148565623
|
0.00123
|
|
NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu)
|
rs113443891
|
0.00123
|
|
NM_006662.3(SRCAP):c.4189A>G (p.Ile1397Val)
|
rs144657822
|
0.00123
|
|
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=)
|
rs137970656
|
0.00123
|
|
NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr)
|
rs147531758
|
0.00123
|
|
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly)
|
rs148833652
|
0.00123
|
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
|
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=)
|
rs141475629
|
0.00123
|
|
NM_020207.7(ERCC6L2):c.1375G>T (p.Val459Phe)
|
rs146551545
|
0.00123
|
|
NM_020745.4(AARS2):c.2905G>T (p.Asp969Tyr)
|
rs150039184
|
0.00123
|
|
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=)
|
rs139677898
|
0.00123
|
|
NM_181507.2(HPS5):c.2402G>A (p.Ser801Asn)
|
rs145135349
|
0.00123
|
|
NM_000369.5(TSHR):c.929G>A (p.Arg310His)
|
rs139286618
|
0.00122
|
|
NM_001114086.2(CLIC5):c.361G>A (p.Ala121Thr)
|
rs189893797
|
0.00122
|
|
NM_001127178.3(PIGG):c.998G>A (p.Ser333Asn)
|
rs185712951
|
0.00122
|
|
NM_001183.6(ATP6AP1):c.361G>C (p.Glu121Gln)
|
rs148803059
|
0.00122
|
|
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met)
|
rs188976869
|
0.00122
|
|
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln)
|
rs142939330
|
0.00122
|
|
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)
|
rs139075637
|
0.00122
|
|
NM_014140.4(SMARCAL1):c.1851+5G>A
|
rs2066514
|
0.00122
|
|
NM_020376.4(PNPLA2):c.1277A>G (p.Asn426Ser)
|
rs140634178
|
0.00122
|
|
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro)
|
rs549839037
|
0.00122
|
|
NM_144631.6(ZNF513):c.395G>C (p.Cys132Ser)
|
rs184500376
|
0.00122
|
|
NM_174936.4(PCSK9):c.835C>A (p.Pro279Thr)
|
rs72646509
|
0.00122
|
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
|
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys)
|
rs146416859
|
0.00121
|
|
NM_000211.5(ITGB2):c.311C>T (p.Thr104Met)
|
rs138682103
|
0.00121
|
|
NM_000215.4(JAK3):c.1581G>A (p.Leu527=)
|
rs3213408
|
0.00121
|
|
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)
|
rs61754767
|
0.00121
|
|
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln)
|
rs41311778
|
0.00121
|
|
NM_001127649.3(PEX26):c.911G>A (p.Arg304His)
|
rs17851387
|
0.00121
|
|
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr)
|
rs151330612
|
0.00121
|
|
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val)
|
rs138655269
|
0.00121
|
|
NM_001322934.2(NFKB2):c.2072-3C>T
|
rs201550645
|
0.00121
|
|
NM_001378609.3(OTOGL):c.917C>T (p.Pro306Leu)
|
rs200050988
|
0.00121
|
|
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp)
|
rs138010738
|
0.00121
|
|
NM_002469.3(MYF6):c.334G>T (p.Ala112Ser)
|
rs28928909
|
0.00121
|
|
NM_002900.3(RBP3):c.299C>T (p.Pro100Leu)
|
rs143076262
|
0.00121
|
|
NM_003355.3(UCP2):c.169G>A (p.Ala57Thr)
|
rs145662569
|
0.00121
|
|
NM_005356.5(LCK):c.601G>A (p.Gly201Ser)
|
rs11567841
|
0.00121
|
|
NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu)
|
rs145183203
|
0.00121
|
|
NM_015001.3(SPEN):c.908A>G (p.Asp303Gly)
|
rs150756182
|
0.00121
|
|
NM_015512.5(DNAH1):c.10852T>C (p.Tyr3618His)
|
rs199603472
|
0.00121
|
|
NM_017433.5(MYO3A):c.424C>T (p.His142Tyr)
|
rs140301218
|
0.00121
|
|
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln)
|
rs140621272
|
0.00121
|
|
NM_033100.4(CDHR1):c.408C>T (p.Ile136=)
|
rs148125234
|
0.00121
|
|
NM_173560.4(RFX6):c.223G>C (p.Glu75Gln)
|
rs201996097
|
0.00121
|
|
NM_182914.3(SYNE2):c.18835G>A (p.Ala6279Thr)
|
rs145871645
|
0.00121
|
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
|
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)
|
rs145483148
|
0.00120
|
|
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly)
|
rs17222674
|
0.00120
|
|
NM_001127496.3(SPRY4):c.461A>G (p.Lys154Arg)
|
rs78310959
|
0.00120
|
|
NM_001129.5(AEBP1):c.260C>T (p.Pro87Leu)
|
rs75107445
|
0.00120
|
|
NM_001189.4(NKX3-2):c.520G>C (p.Val174Leu)
|
rs559539989
|
0.00120
|
|
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)
|
rs141493373
|
0.00120
|
|
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)
|
rs112217391
|
0.00120
|
|
NM_001377229.1(DISP1):c.1322C>T (p.Thr441Met)
|
rs114523965
|
0.00120
|
|
NM_015378.4(VPS13D):c.459A>C (p.Gln153His)
|
rs116415833
|
0.00120
|
|
NM_015466.4(PTPN23):c.4618A>G (p.Ile1540Val)
|
rs111852098
|
0.00120
|
|
NM_033100.4(CDHR1):c.556C>T (p.His186Tyr)
|
rs147420731
|
0.00120
|
|
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)
|
rs142786231
|
0.00120
|
|
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn)
|
rs147608206
|
0.00119
|
|
NM_000215.4(JAK3):c.1929G>A (p.Leu643=)
|
rs138645044
|
0.00119
|
|
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys)
|
rs140901235
|
0.00119
|
|
NM_001365999.1(SZT2):c.4727G>A (p.Arg1576His)
|
rs143935839
|
0.00119
|
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
|
NM_004793.4(LONP1):c.2711G>A (p.Arg904His)
|
rs112807920
|
0.00119
|
|
NM_005677.4(COLQ):c.106+6T>C
|
rs201376373
|
0.00119
|
|
NM_006282.5(STK4):c.1057A>G (p.Thr353Ala)
|
rs140089638
|
0.00119
|
|
NM_016023.5(OTUD6B):c.-39A>G
|
rs199542428
|
0.00119
|
|
NM_032119.4(ADGRV1):c.207+3A>G
|
rs142356935
|
0.00119
|
|
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg)
|
rs2230210
|
0.00118
|
|
NM_001017995.3(SH3PXD2B):c.698C>T (p.Thr233Ile)
|
rs149519060
|
0.00118
|
|
NM_001083614.2(EARS2):c.263C>A (p.Ala88Glu)
|
rs201929423
|
0.00118
|
|
NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn)
|
rs145274061
|
0.00118
|
|
NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His)
|
rs147940248
|
0.00118
|
|
NM_001793.6(CDH3):c.1681G>A (p.Val561Met)
|
rs151198926
|
0.00118
|
|
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)
|
rs137979116
|
0.00118
|
|
NM_004994.3(MMP9):c.1891C>A (p.Arg631Ser)
|
rs201280938
|
0.00118
|
|
NM_005876.5(SPEG):c.1753G>A (p.Gly585Ser)
|
rs200066956
|
0.00118
|
|
NM_017636.4(TRPM4):c.988G>A (p.Glu330Lys)
|
rs145771389
|
0.00118
|
|
NM_018136.5(ASPM):c.7620A>G (p.Ala2540=)
|
rs147160053
|
0.00118
|
|
NM_019112.4(ABCA7):c.3727-6C>T
|
rs189260652
|
0.00118
|
|
NM_139027.6(ADAMTS13):c.2384C>T (p.Ala795Val)
|
rs201607490
|
0.00118
|
|
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met)
|
rs114400765
|
0.00118
|
|
NM_001457.4(FLNB):c.6047G>A (p.Arg2016Gln)
|
rs137885421
|
0.00117
|
|
NM_001715.3(BLK):c.974A>C (p.Lys325Thr)
|
rs77401687
|
0.00117
|
|
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val)
|
rs200511900
|
0.00117
|
|
NM_003184.4(TAF2):c.157A>G (p.Ile53Val)
|
rs112002462
|
0.00117
|
|
NM_003504.5(CDC45):c.19C>G (p.Arg7Gly)
|
rs147730653
|
0.00117
|
|
NM_005276.4(GPD1):c.236T>G (p.Val79Gly)
|
rs147914698
|
0.00117
|
|
NM_006225.4(PLCD1):c.35-4000A>G
|
rs143961610
|
0.00117
|
|
NM_014053.4(FLVCR1):c.1624C>T (p.Pro542Ser)
|
rs141575859
|
0.00117
|
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
|
NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser)
|
rs140157299
|
0.00117
|
|
NM_020661.4(AICDA):c.48A>G (p.Lys16=)
|
rs186739900
|
0.00117
|
|
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)
|
rs140179844
|
0.00117
|
|
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys)
|
rs61754263
|
0.00116
|
|
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr)
|
rs192877602
|
0.00116
|
|
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)
|
rs143523271
|
0.00116
|
|
NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile)
|
rs114320052
|
0.00116
|
|
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)
|
rs180869784
|
0.00116
|
|
NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr)
|
rs114473792
|
0.00116
|
|
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln)
|
rs138246328
|
0.00116
|
|
NM_001006658.3(CR2):c.1140G>A (p.Met380Ile)
|
rs147638245
|
0.00116
|
|
NM_001039141.3(TRIOBP):c.3068C>T (p.Ala1023Val)
|
rs201681832
|
0.00116
|
|
NM_001378609.3(OTOGL):c.860C>T (p.Ser287Leu)
|
rs147195954
|
0.00116
|
|
NM_001385.3(DPYS):c.264+5C>T
|
rs672601293
|
0.00116
|
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
|
NM_002838.5(PTPRC):c.782G>T (p.Gly261Val)
|
rs142941257
|
0.00116
|
|
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala)
|
rs115333628
|
0.00116
|
|
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser)
|
rs148935720
|
0.00116
|
|
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln)
|
rs61741781
|
0.00116
|
|
NM_016023.5(OTUD6B):c.389C>A (p.Ala130Asp)
|
rs143832637
|
0.00116
|
|
NM_016929.5(CLIC5):c.326G>A (p.Arg109Gln)
|
rs117204561
|
0.00116
|
|
NM_018076.5(ODAD2):c.3086C>T (p.Ser1029Phe)
|
rs138588942
|
0.00116
|
|
NM_018668.5(VPS33B):c.944G>A (p.Arg315Gln)
|
rs145303578
|
0.00116
|
|
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg)
|
rs375318012
|
0.00116
|
|
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)
|
rs201089582
|
0.00116
|
|
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu)
|
rs193922358
|
0.00115
|
|
NM_001005273.3(CHD3):c.3417G>T (p.Gly1139=)
|
rs61753146
|
0.00115
|
|
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)
|
rs138268837
|
0.00115
|
|
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)
|
rs147236883
|
0.00115
|
|
NM_014780.5(CUL7):c.1859C>T (p.Pro620Leu)
|
rs147326417
|
0.00115
|
|
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu)
|
rs141715950
|
0.00115
|
|
NM_018292.5(QRSL1):c.1090A>G (p.Thr364Ala)
|
rs143151340
|
0.00115
|
|
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr)
|
rs149986237
|
0.00115
|
|
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu)
|
rs200187681
|
0.00115
|
|
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser)
|
rs76362149
|
0.00114
|
|
NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His)
|
rs144717803
|
0.00114
|
|
NM_005005.3(NDUFB9):c.109T>C (p.Tyr37His)
|
rs140417066
|
0.00114
|
|
NM_005559.4(LAMA1):c.3164G>A (p.Arg1055Gln)
|
rs150940045
|
0.00114
|
|
NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys)
|
rs146325169
|
0.00114
|
|
NM_014780.5(CUL7):c.1067G>A (p.Arg356His)
|
rs146227929
|
0.00114
|
|
NM_014855.3(AP5Z1):c.1062C>T (p.His354=)
|
rs192441133
|
0.00114
|
|
NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr)
|
rs199936876
|
0.00114
|
|
NM_018136.5(ASPM):c.4436A>G (p.Lys1479Arg)
|
rs115594989
|
0.00114
|
|
NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr)
|
rs149121639
|
0.00114
|
|
NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu)
|
rs199975696
|
0.00114
|
|
NM_025099.6(CTC1):c.147C>T (p.Val49=)
|
rs201492796
|
0.00114
|
|
NM_207037.2(TCF12):c.1465A>G (p.Met489Val)
|
rs149621019
|
0.00114
|
|
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu)
|
rs140114392
|
0.00113
|
|
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)
|
rs146344855
|
0.00113
|
|
NM_000130.5(F5):c.5265A>G (p.Ile1755Met)
|
rs41272455
|
0.00113
|
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
|
NM_000400.4(ERCC2):c.1789C>T (p.Leu597=)
|
rs138038607
|
0.00113
|
|
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys)
|
rs61739911
|
0.00113
|
|
NM_001004334.4(GPR179):c.3401G>A (p.Arg1134Gln)
|
rs112987826
|
0.00113
|
|
NM_001083961.2(WDR62):c.3440A>G (p.Tyr1147Cys)
|
rs146867414
|
0.00113
|
|
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr)
|
rs141867897
|
0.00113
|
|
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile)
|
rs116448158
|
0.00113
|
|
NM_001349.4(DARS1):c.1088G>A (p.Gly363Glu)
|
rs2228660
|
0.00113
|
|
NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln)
|
rs138427861
|
0.00113
|
|
NM_001355436.2(SPTB):c.6345+19T>A
|
rs151232626
|
0.00113
|
|
NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn)
|
rs151286835
|
0.00113
|
|
NM_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu)
|
rs149434153
|
0.00113
|
|
NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser)
|
rs141002044
|
0.00113
|
|
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu)
|
rs146256526
|
0.00113
|
|
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu)
|
rs144455277
|
0.00113
|
|
NM_138694.4(PKHD1):c.281+3A>G
|
rs79803080
|
0.00113
|
|
NM_182895.5(SCARF2):c.2522C>T (p.Thr841Ile)
|
rs537247534
|
0.00113
|
|
NM_198999.3(SLC26A5):c.1944A>C (p.Gln648His)
|
rs148546326
|
0.00113
|
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
|
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser)
|
rs121909548
|
0.00112
|
|
NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp)
|
rs41306784
|
0.00112
|
|
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)
|
rs144636654
|
0.00112
|
|
NM_001142864.4(PIEZO1):c.7374C>G (p.Phe2458Leu)
|
rs202127176
|
0.00112
|
|
NM_001146079.2(CLDN14):c.406G>A (p.Val136Ile)
|
rs140918123
|
0.00112
|
|
NM_001164508.2(NEB):c.177G>A (p.Gln59=)
|
rs200990309
|
0.00112
|
|
NM_001941.5(DSC3):c.2488G>A (p.Gly830Ser)
|
rs142851621
|
0.00112
|
|
NM_002439.5(MSH3):c.1522A>G (p.Lys508Glu)
|
rs146768828
|
0.00112
|
|
NM_002439.5(MSH3):c.2041C>T (p.Pro681Ser)
|
rs115198722
|
0.00112
|
|
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile)
|
rs139073821
|
0.00112
|
|
NM_019032.6(ADAMTSL4):c.1893G>A (p.Pro631=)
|
rs112045022
|
0.00112
|
|
NM_022081.6(HPS4):c.557C>T (p.Ser186Leu)
|
rs61729175
|
0.00112
|
|
NM_022369.4(STRA6):c.1685-5C>G
|
rs201730717
|
0.00112
|
|
NM_139027.6(ADAMTS13):c.2944G>A (p.Gly982Arg)
|
rs36222275
|
0.00112
|
|
NM_000163.5(GHR):c.239G>T (p.Gly80Val)
|
rs114025919
|
0.00111
|
|
NM_000540.3(RYR1):c.725+6G>A
|
rs201679831
|
0.00111
|
|
NM_001252024.2(TRPM1):c.2953A>C (p.Met985Leu)
|
rs181499296
|
0.00111
|
|
NM_001457.4(FLNB):c.3522G>A (p.Ser1174=)
|
rs140993979
|
0.00111
|
|
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met)
|
rs141556170
|
0.00111
|
|
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)
|
rs149082597
|
0.00111
|
|
NM_003477.3(PDHX):c.589C>A (p.Leu197Met)
|
rs139052284
|
0.00111
|
|
NM_004525.3(LRP2):c.170C>T (p.Ala57Val)
|
rs115350461
|
0.00111
|
|
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met)
|
rs139792723
|
0.00111
|
|
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys)
|
rs138453255
|
0.00111
|
|
NM_016529.6(ATP8A2):c.1469G>A (p.Arg490His)
|
rs201904651
|
0.00111
|
|
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324
|
0.00111
|
|
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr)
|
rs200510532
|
0.00110
|
|
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)
|
rs144658100
|
0.00110
|
|
NM_000324.3(RHAG):c.199T>C (p.Phe67Leu)
|
rs116356543
|
0.00110
|
|
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)
|
rs34193178
|
0.00110
|
|
NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly)
|
rs145929269
|
0.00110
|
|
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=)
|
rs138882727
|
0.00110
|
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
|
NM_002618.4(PEX13):c.893T>C (p.Met298Thr)
|
rs138545154
|
0.00110
|
|
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser)
|
rs149911553
|
0.00110
|
|
NM_015378.4(VPS13D):c.1414+5G>A
|
rs190463258
|
0.00110
|
|
NM_032730.5(RTN4IP1):c.5A>C (p.Glu2Ala)
|
rs138612238
|
0.00110
|
|
NM_133261.3(GIPC3):c.4G>A (p.Glu2Lys)
|
rs764467903
|
0.00110
|
|
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)
|
rs74162102
|
0.00109
|
|
NM_000528.4(MAN2B1):c.1110-8C>T
|
rs201690866
|
0.00109
|
|
NM_001122769.3(LCA5):c.902G>A (p.Arg301His)
|
rs139142572
|
0.00109
|
|
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=)
|
rs142483266
|
0.00109
|
|
NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser)
|
rs201950081
|
0.00109
|
|
NM_001256715.2(DNAAF3):c.1255C>T (p.Arg419Trp)
|
rs201929981
|
0.00109
|
|
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=)
|
rs55923848
|
0.00109
|
|
NM_001737.5(C9):c.1451T>A (p.Met484Lys)
|
rs145969667
|
0.00109
|
|
NM_002857.4(PEX19):c.181-5C>T
|
rs199818690
|
0.00109
|
|
NM_003737.4(DCHS1):c.5503C>T (p.Leu1835Phe)
|
rs148791938
|
0.00109
|
|
NM_004069.6(AP2S1):c.153+6G>A
|
rs201686470
|
0.00109
|
|
NM_017837.4(PIGV):c.1277C>T (p.Pro426Leu)
|
rs146969255
|
0.00109
|
|
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val)
|
rs188762916
|
0.00109
|
|
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile)
|
rs140942230
|
0.00109
|
|
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)
|
rs141828689
|
0.00109
|
|
NM_000137.4(FAH):c.565G>A (p.Val189Ile)
|
rs145389125
|
0.00108
|
|
NM_000338.3(SLC12A1):c.2287C>G (p.Leu763Val)
|
rs148689126
|
0.00108
|
|
NM_000550.3(TYRP1):c.1554G>C (p.Gln518His)
|
rs41305647
|
0.00108
|
|
NM_001041.4(SI):c.2320A>G (p.Arg774Gly)
|
rs147207752
|
0.00108
|
|
NM_001077446.4(TSEN34):c.581C>T (p.Pro194Leu)
|
rs200626822
|
0.00108
|
|
NM_001127671.2(LIFR):c.670A>G (p.Ile224Val)
|
rs151282774
|
0.00108
|
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00108
|
|
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys)
|
rs200545007
|
0.00108
|
|
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile)
|
rs35759430
|
0.00108
|
|
NM_002863.5(PYGL):c.603G>T (p.Val201=)
|
rs138364932
|
0.00108
|
|
NM_003801.4(GPAA1):c.1863G>T (p.Lys621Asn)
|
rs13255101
|
0.00108
|
|
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln)
|
rs71318369
|
0.00108
|
|
NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln)
|
rs142215888
|
0.00108
|
|
NM_005245.4(FAT1):c.11497A>G (p.Thr3833Ala)
|
rs201279606
|
0.00108
|
|
NM_005529.7(HSPG2):c.149A>T (p.His50Leu)
|
rs138518139
|
0.00108
|
|
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln)
|
rs140022033
|
0.00108
|
|
NM_014780.5(CUL7):c.136C>T (p.Arg46Trp)
|
rs141692693
|
0.00108
|
|
NM_015426.5(POC1A):c.235G>A (p.Gly79Ser)
|
rs35249554
|
0.00108
|
|
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr)
|
rs144054758
|
0.00108
|
|
NM_018993.4(RIN2):c.2501A>T (p.Tyr834Phe)
|
rs183141566
|
0.00108
|
|
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu)
|
rs200053639
|
0.00108
|
|
NM_052859.4(RFT1):c.303C>G (p.Gly101=)
|
rs148576979
|
0.00108
|
|
NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val)
|
rs41297069
|
0.00108
|
|
NM_144670.6(A2ML1):c.4061+1G>A
|
rs202067416
|
0.00108
|
|
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val)
|
rs146636139
|
0.00108
|
|
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)
|
rs140895792
|
0.00108
|
|
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)
|
rs139361545
|
0.00107
|
|
NM_000153.4(GALC):c.659G>A (p.Arg220Gln)
|
rs199967869
|
0.00107
|
|
NM_000228.3(LAMB3):c.1051G>A (p.Glu351Lys)
|
rs114875539
|
0.00107
|
|
NM_000515.5(GH1):c.15C>T (p.Ser5=)
|
rs111957225
|
0.00107
|
|
NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly)
|
rs61743881
|
0.00107
|
|
NM_001114134.2(EPB42):c.1609G>A (p.Ala537Thr)
|
rs45495503
|
0.00107
|
|
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)
|
rs139848756
|
0.00107
|
|
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met)
|
rs35090700
|
0.00107
|
|
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp)
|
rs140948493
|
0.00107
|
|
NM_001374736.1(DST):c.18433C>T (p.Arg6145Trp)
|
rs193252082
|
0.00107
|
|
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)
|
rs184394424
|
0.00107
|
|
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)
|
rs141980901
|
0.00107
|
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
|
NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile)
|
rs146772848
|
0.00107
|
|
NM_015346.4(ZFYVE26):c.1945G>A (p.Val649Met)
|
rs144790966
|
0.00107
|
|
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu)
|
rs146422412
|
0.00107
|
|
NM_025009.5(CEP135):c.64C>T (p.Arg22Cys)
|
rs150681316
|
0.00107
|
|
NM_144508.5(KNL1):c.2311G>A (p.Val771Ile)
|
rs151288115
|
0.00107
|
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
|
NM_207361.6(FREM2):c.3539C>G (p.Pro1180Arg)
|
rs139236965
|
0.00107
|
|
NM_000081.4(LYST):c.7506A>G (p.Gln2502=)
|
rs140434436
|
0.00106
|
|
NM_000246.4(CIITA):c.460G>A (p.Asp154Asn)
|
rs76923280
|
0.00106
|
|
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser)
|
rs201707021
|
0.00106
|
|
NM_001256071.3(RNF213):c.6979A>G (p.Asn2327Asp)
|
rs138044665
|
0.00106
|
|
NM_001377229.1(DISP1):c.3931G>A (p.Gly1311Ser)
|
rs143356409
|
0.00106
|
|
NM_001384732.1(CPLANE1):c.8711A>G (p.Asp2904Gly)
|
rs144427399
|
0.00106
|
|
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)
|
rs145687082
|
0.00106
|
|
NM_006348.5(COG5):c.1160G>A (p.Arg387His)
|
rs35258567
|
0.00106
|
|
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile)
|
rs150539399
|
0.00106
|
|
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)
|
rs111033457
|
0.00106
|
|
NM_022369.4(STRA6):c.826C>T (p.Arg276Cys)
|
rs142089943
|
0.00106
|
|
NM_024027.5(COLEC11):c.191C>T (p.Thr64Met)
|
rs142369741
|
0.00106
|
|
NM_052865.4(MGME1):c.242C>G (p.Pro81Arg)
|
rs150656271
|
0.00106
|
|
NM_144508.5(KNL1):c.251-7T>A
|
rs555296963
|
0.00106
|
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
|
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)
|
rs144968313
|
0.00106
|
|
NM_201631.4(TGM5):c.1632T>G (p.Ser544Arg)
|
rs148226418
|
0.00106
|
|
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)
|
rs141440861
|
0.00105
|
|
NM_000302.4(PLOD1):c.137G>A (p.Arg46His)
|
rs142710681
|
0.00105
|
|
NM_000784.4(CYP27A1):c.646+4C>T
|
rs191313794
|
0.00105
|
|
NM_001080414.4(CCDC88C):c.1878G>C (p.Lys626Asn)
|
rs78468999
|
0.00105
|
|
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn)
|
rs146170855
|
0.00105
|
|
NM_002234.4(KCNA5):c.79G>A (p.Gly27Ser)
|
rs201238766
|
0.00105
|
|
NM_002439.5(MSH3):c.1160T>A (p.Phe387Tyr)
|
rs140543135
|
0.00105
|
|
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg)
|
rs148611356
|
0.00105
|
|
NM_005245.4(FAT1):c.635A>T (p.Tyr212Phe)
|
rs61747592
|
0.00105
|
|
NM_015072.5(TTLL5):c.670G>A (p.Val224Met)
|
rs17849666
|
0.00105
|
|
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys)
|
rs189255177
|
0.00105
|
|
NM_032656.4(DHX37):c.1270G>A (p.Ala424Thr)
|
rs114271603
|
0.00105
|
|
NM_033004.4(NLRP1):c.406G>A (p.Val136Ile)
|
rs142484301
|
0.00105
|
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00105
|
|
NM_153816.6(SNX14):c.1074C>T (p.Gly358=)
|
rs41271627
|
0.00105
|
|
NM_173076.3(ABCA12):c.1141G>C (p.Val381Leu)
|
rs143513000
|
0.00105
|
|
NM_173076.3(ABCA12):c.6919A>G (p.Ile2307Val)
|
rs150196545
|
0.00105
|
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
|
NM_000271.5(NPC1):c.66A>G (p.Ser22=)
|
rs144415945
|
0.00104
|
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00104
|
|
NM_001036.6(RYR3):c.6698G>A (p.Arg2233Gln)
|
rs199648816
|
0.00104
|
|
NM_001145809.2(MYH14):c.4033G>A (p.Ala1345Thr)
|
rs148054042
|
0.00104
|
|
NM_001366385.1(CARD14):c.449T>G (p.Leu150Arg)
|
rs146214639
|
0.00104
|
|
NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=)
|
rs34161326
|
0.00104
|
|
NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile)
|
rs149001418
|
0.00104
|
|
NM_006493.4(CLN5):c.-146T>C
|
rs201615354
|
0.00104
|
|
NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu)
|
rs199731143
|
0.00104
|
|
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser)
|
rs144320036
|
0.00104
|
|
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu)
|
rs62542664
|
0.00104
|
|
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)
|
rs146668962
|
0.00104
|
|
NM_182977.3(NNT):c.3224C>T (p.Ala1075Val)
|
rs139947920
|
0.00104
|
|
NM_000125.4(ESR1):c.406C>T (p.Pro136Ser)
|
rs201145204
|
0.00103
|
|
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys)
|
rs142309764
|
0.00103
|
|
NM_000237.2(LPL):c.-241G>C
|
rs540525285
|
0.00103
|
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00103
|
|
NM_000358.3(TGFBI):c.1998G>C (p.Arg666Ser)
|
rs121909217
|
0.00103
|
|
NM_000392.5(ABCC2):c.3614+6G>C
|
rs17222716
|
0.00103
|
|
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln)
|
rs111768745
|
0.00103
|
|
NM_001277115.2(DNAH11):c.13257A>G (p.Gly4419=)
|
rs200445638
|
0.00103
|
|
NM_001384474.1(LOXHD1):c.3673A>G (p.Ser1225Gly)
|
rs370149278
|
0.00103
|
|
NM_002617.4(PEX10):c.601-27A>G
|
rs144264865
|
0.00103
|
|
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser)
|
rs34761938
|
0.00103
|
|
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)
|
rs145613634
|
0.00103
|
|
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln)
|
rs145415033
|
0.00103
|
|
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=)
|
rs148848282
|
0.00103
|
|
NM_020442.6(VARS2):c.451T>C (p.Ser151Pro)
|
rs150863068
|
0.00103
|
|
NM_020884.7(MYH7B):c.4070A>C (p.Glu1357Ala)
|
rs202122911
|
0.00103
|
|
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg)
|
rs139259804
|
0.00103
|
|
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)
|
rs140690030
|
0.00103
|
|
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu)
|
rs146603801
|
0.00103
|
|
NM_052859.4(RFT1):c.826+7T>C
|
rs192264403
|
0.00103
|
|
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)
|
rs145565705
|
0.00103
|
|
NM_144508.5(KNL1):c.4231G>A (p.Gly1411Arg)
|
rs150569450
|
0.00103
|
|
NM_182914.3(SYNE2):c.7483G>A (p.Gly2495Arg)
|
rs201036334
|
0.00103
|
|
NM_194248.3(OTOF):c.3917A>C (p.Lys1306Thr)
|
rs62641623
|
0.00103
|
|
NM_198129.4(LAMA3):c.4643A>G (p.Asp1548Gly)
|
rs201045690
|
0.00103
|
|
NM_205850.3(SLC24A5):c.1442T>C (p.Leu481Ser)
|
rs146726548
|
0.00103
|
|
NM_000215.4(JAK3):c.252G>A (p.Pro84=)
|
rs139738701
|
0.00102
|
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
|
NM_001080394.4(SPIDR):c.884A>C (p.Lys295Thr)
|
rs139331110
|
0.00102
|
|
NM_001134363.3(RBM20):c.280C>T (p.Leu94=)
|
rs182768779
|
0.00102
|
|
NM_001164508.2(NEB):c.18262-13C>T
|
rs374553944
|
0.00102
|
|
NM_001189.4(NKX3-2):c.148T>G (p.Cys50Gly)
|
rs371597026
|
0.00102
|
|
NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr)
|
rs550949678
|
0.00102
|
|
NM_001374736.1(DST):c.16495A>T (p.Ser5499Cys)
|
rs180765536
|
0.00102
|
|
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)
|
rs138392504
|
0.00102
|
|
NM_005787.6(ALG3):c.845C>T (p.Ala282Val)
|
rs2233466
|
0.00102
|
|
NM_005876.5(SPEG):c.3969G>T (p.Gln1323His)
|
rs55876679
|
0.00102
|
|
NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala)
|
rs143570842
|
0.00102
|
|
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr)
|
rs143764421
|
0.00102
|
|
NM_014908.4(DOLK):c.700A>G (p.Met234Val)
|
rs139787271
|
0.00102
|
|
NM_030916.3(NECTIN4):c.1327C>T (p.Arg443Cys)
|
rs1537044
|
0.00102
|
|
NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser)
|
rs41297065
|
0.00102
|
|
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp)
|
rs146515622
|
0.00102
|
|
NM_173477.5(USH1G):c.715A>C (p.Lys239Gln)
|
rs147967199
|
0.00102
|
|
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr)
|
rs147053126
|
0.00102
|
|
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys)
|
rs111033508
|
0.00102
|
|
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=)
|
rs145169484
|
0.00101
|
|
NM_000100.4(CSTB):c.121G>A (p.Val41Met)
|
rs143153487
|
0.00101
|
|
NM_000155.4(GALT):c.919T>A (p.Ser307Thr)
|
rs61735983
|
0.00101
|
|
NM_000231.3(SGCG):c.539A>T (p.Glu180Val)
|
rs114160429
|
0.00101
|
|
NM_000286.3(PEX12):c.722G>T (p.Gly241Val)
|
rs139417458
|
0.00101
|
|
NM_000452.3(SLC10A2):c.108G>A (p.Thr36=)
|
rs141524545
|
0.00101
|
|
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
|
rs146504767
|
0.00101
|
|
NM_001012339.3(DNAJC21):c.1261C>G (p.Gln421Glu)
|
rs146564466
|
0.00101
|
|
NM_001099287.2(NIPAL4):c.260C>T (p.Thr87Met)
|
rs188020393
|
0.00101
|
|
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=)
|
rs150266932
|
0.00101
|
|
NM_001142800.2(EYS):c.9185A>G (p.Asn3062Ser)
|
rs553840761
|
0.00101
|
|
NM_001353108.3(CEP63):c.905C>G (p.Thr302Ser)
|
rs142766824
|
0.00101
|
|
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His)
|
rs192234924
|
0.00101
|
|
NM_001482.3(GATM):c.69+13C>T
|
rs573273215
|
0.00101
|
|
NM_003630.3(PEX3):c.578+8A>G
|
rs200807211
|
0.00101
|
|
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu)
|
rs151275800
|
0.00101
|
|
NM_007055.4(POLR3A):c.3280G>A (p.Asp1094Asn)
|
rs146861723
|
0.00101
|
|
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)
|
rs200866893
|
0.00101
|
|
NM_016343.4(CENPF):c.4313A>G (p.Tyr1438Cys)
|
rs142984971
|
0.00101
|
|
NM_020312.4(COQ9):c.323T>G (p.Leu108Arg)
|
rs11547480
|
0.00101
|
|
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)
|
rs142857685
|
0.00101
|
|
NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser)
|
rs35496669
|
0.00101
|
|
NM_025074.7(FRAS1):c.10237C>T (p.Pro3413Ser)
|
rs189612722
|
0.00101
|
|
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)
|
rs145886657
|
0.00101
|
|
NM_000163.5(GHR):c.536G>A (p.Arg179His)
|
rs6181
|
0.00100
|
|
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)
|
rs140337137
|
0.00100
|
|
NM_001098.3(ACO2):c.2278G>A (p.Glu760Lys)
|
rs115203053
|
0.00100
|
|
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser)
|
rs141721173
|
0.00100
|
|
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly)
|
rs139087859
|
0.00100
|
|
NM_002662.5(PLD1):c.709G>T (p.Gly237Cys)
|
rs149535568
|
0.00100
|
|
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser)
|
rs150752263
|
0.00100
|
|
NM_014244.5(ADAMTS2):c.2958+4C>T
|
rs375345961
|
0.00100
|
|
NM_017613.4(DONSON):c.1411G>A (p.Glu471Lys)
|
rs140592434
|
0.00100
|
|
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=)
|
rs74880446
|
0.00100
|
|
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met)
|
rs112775194
|
0.00100
|
|
NM_022369.4(STRA6):c.357C>T (p.Pro119=)
|
rs139775570
|
0.00100
|
|
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)
|
rs143301610
|
0.00100
|
|
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=)
|
rs144216539
|
0.00100
|
|
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)
|
rs143616240
|
0.00100
|
|
NM_000037.4(ANK1):c.2960+13G>T
|
rs200746947
|
0.00099
|
|
NM_001382347.1(MYO5A):c.3136G>A (p.Val1046Met)
|
rs56132571
|
0.00099
|
|
NM_001770.6(CD19):c.1274C>T (p.Ser425Phe)
|
rs142818579
|
0.00099
|
|
NM_003172.4(SURF1):c.211G>C (p.Val71Leu)
|
rs147993882
|
0.00099
|
|
NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His)
|
rs141243126
|
0.00099
|
|
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp)
|
rs143030960
|
0.00099
|
|
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)
|
rs147506904
|
0.00099
|
|
NM_018122.5(DARS2):c.188G>A (p.Gly63Asp)
|
rs114714497
|
0.00099
|
|
NM_021167.5(GATAD1):c.96T>G (p.His32Gln)
|
rs532003876
|
0.00099
|
|
NM_174916.3(UBR1):c.5135G>A (p.Arg1712His)
|
rs141828250
|
0.00099
|
|
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp)
|
rs148153079
|
0.00099
|
|
NM_000027.4(AGA):c.762C>T (p.Ala254=)
|
rs145465919
|
0.00098
|
|
NM_000169.3(GLA):c.8T>C (p.Leu3Pro)
|
rs150547672
|
0.00098
|
|
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg)
|
rs184866544
|
0.00098
|
|
NM_000306.4(POU1F1):c.252C>T (p.His84=)
|
rs4988460
|
0.00098
|
|
NM_000352.6(ABCC8):c.1630+10C>T
|
rs188075767
|
0.00098
|
|
NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val)
|
rs138315990
|
0.00098
|
|
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala)
|
rs144217005
|
0.00098
|
|
NM_000542.5(SFTPB):c.869G>A (p.Gly290Glu)
|
rs45504597
|
0.00098
|
|
NM_000687.4(AHCY):c.219+7C>G
|
rs200332864
|
0.00098
|
|
NM_000789.4(ACE):c.1979C>G (p.Ser660Cys)
|
rs147429960
|
0.00098
|
|
NM_001001433.3(STX16):c.456G>T (p.Glu152Asp)
|
rs138647604
|
0.00098
|
|
NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys)
|
rs11861980
|
0.00098
|
|
NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln)
|
rs113570783
|
0.00098
|
|
NM_001256317.3(TMPRSS3):c.1360T>C (p.Ter454Arg)
|
rs149919890
|
0.00098
|
|
NM_001457.4(FLNB):c.1697G>A (p.Arg566Gln)
|
rs150747960
|
0.00098
|
|
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)
|
rs61736727
|
0.00098
|
|
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=)
|
rs11568360
|
0.00098
|
|
NM_004341.5(CAD):c.3541C>T (p.Arg1181Trp)
|
rs145562987
|
0.00098
|
|
NM_004525.3(LRP2):c.6176C>T (p.Ser2059Phe)
|
rs148299415
|
0.00098
|
|
NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu)
|
rs56099091
|
0.00098
|
|
NM_005876.5(SPEG):c.9764G>A (p.Arg3255His)
|
rs55821615
|
0.00098
|
|
NM_014780.5(CUL7):c.2115C>T (p.His705=)
|
rs143128153
|
0.00098
|
|
NM_015311.3(OBSL1):c.4069C>T (p.Pro1357Ser)
|
rs200543358
|
0.00098
|
|
NM_015404.4(WHRN):c.1149C>T (p.Thr383=)
|
rs149558159
|
0.00098
|
|
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr)
|
rs142653982
|
0.00098
|
|
NM_018993.4(RIN2):c.1004C>G (p.Pro335Arg)
|
rs200780805
|
0.00098
|
|
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg)
|
rs149097636
|
0.00098
|
|
NM_021922.3(FANCE):c.696G>A (p.Glu232=)
|
rs147356927
|
0.00098
|
|
NM_032380.5(GFM2):c.1424C>T (p.Ala475Val)
|
rs142986380
|
0.00098
|
|
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln)
|
rs145019640
|
0.00098
|
|
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly)
|
rs146892520
|
0.00098
|
|
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=)
|
rs139050119
|
0.00097
|
|
NM_002335.4(LRP5):c.4195G>A (p.Val1399Ile)
|
rs113315676
|
0.00097
|
|
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)
|
rs34656239
|
0.00097
|
|
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp)
|
rs147653673
|
0.00097
|
|
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe)
|
rs139337049
|
0.00097
|
|
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)
|
rs150981983
|
0.00097
|
|
NM_015909.4(NBAS):c.4228A>G (p.Thr1410Ala)
|
rs143724414
|
0.00097
|
|
NM_017837.4(PIGV):c.349A>G (p.Ile117Val)
|
rs142192097
|
0.00097
|
|
NM_018993.4(RIN2):c.1045C>T (p.Pro349Ser)
|
rs201486809
|
0.00097
|
|
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly)
|
rs142872154
|
0.00097
|
|
NM_198129.4(LAMA3):c.2809C>T (p.Leu937Phe)
|
rs61751701
|
0.00097
|
|
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
|
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)
|
rs141200145
|
0.00096
|
|
NM_000212.3(ITGB3):c.970A>G (p.Lys324Glu)
|
rs147263592
|
0.00096
|
|
NM_000282.4(PCCA):c.2172C>T (p.Leu724=)
|
rs150352833
|
0.00096
|
|
NM_000751.3(CHRND):c.1400G>A (p.Arg467His)
|
rs148939701
|
0.00096
|
|
NM_000878.5(IL2RB):c.459A>C (p.Glu153Asp)
|
rs149258462
|
0.00096
|
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
|
NM_001083961.2(WDR62):c.2211-4G>A
|
rs202109439
|
0.00096
|
|
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)
|
rs141818764
|
0.00096
|
|
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met)
|
rs111250264
|
0.00096
|
|
NM_001252024.2(TRPM1):c.3293+5G>A
|
rs201442201
|
0.00096
|
|
NM_001278512.2(AP3B2):c.189G>A (p.Ala63=)
|
rs145841558
|
0.00096
|
|
NM_001457.4(FLNB):c.808A>G (p.Met270Val)
|
rs145036794
|
0.00096
|
|
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)
|
rs144899305
|
0.00096
|
|
NM_005276.4(GPD1):c.431T>C (p.Met144Thr)
|
rs146239968
|
0.00096
|
|
NM_006348.5(COG5):c.298C>T (p.Leu100Phe)
|
rs150351852
|
0.00096
|
|
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)
|
rs138481453
|
0.00096
|
|
NM_133459.4(CCBE1):c.431C>T (p.Thr144Met)
|
rs147974432
|
0.00096
|
|
NM_173689.7(CRB2):c.737G>A (p.Arg246His)
|
rs150339335
|
0.00096
|
|
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu)
|
rs80356576
|
0.00096
|
|
NM_000170.3(GLDC):c.2964G>A (p.Arg988=)
|
rs146045718
|
0.00095
|
|
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe)
|
rs139059149
|
0.00095
|
|
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys)
|
rs371397760
|
0.00095
|
|
NM_000479.5(AMH):c.991T>C (p.Ser331Pro)
|
rs556078854
|
0.00095
|
|
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg)
|
rs147135554
|
0.00095
|
|
NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser)
|
rs199628430
|
0.00095
|
|
NM_001384479.1(AGT):c.704T>G (p.Leu235Arg)
|
rs5041
|
0.00095
|
|
NM_001966.4(EHHADH):c.983C>T (p.Ser328Leu)
|
rs144464757
|
0.00095
|
|
NM_002335.4(LRP5):c.263A>G (p.Lys88Arg)
|
rs78219242
|
0.00095
|
|
NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr)
|
rs138661581
|
0.00095
|
|
NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile)
|
rs140191063
|
0.00095
|
|
NM_016653.3(MAP3K20):c.1640A>T (p.Gln547Leu)
|
rs188158548
|
0.00095
|
|
NM_017433.5(MYO3A):c.585+4A>T
|
rs202189844
|
0.00095
|
|
NM_018965.4(TREM2):c.399G>T (p.Leu133=)
|
rs144250872
|
0.00095
|
|
NM_182548.4(LHFPL5):c.43C>T (p.His15Tyr)
|
rs149941106
|
0.00095
|
|
NM_000440.3(PDE6A):c.2038A>G (p.Met680Val)
|
rs148598583
|
0.00094
|
|
NM_000817.3(GAD1):c.1173C>T (p.Asn391=)
|
rs34856125
|
0.00094
|
|
NM_000817.3(GAD1):c.1251C>T (p.Leu417=)
|
rs35426017
|
0.00094
|
|
NM_000817.3(GAD1):c.807G>A (p.Pro269=)
|
rs34100397
|
0.00094
|
|
NM_004836.7(EIF2AK3):c.112G>A (p.Ala38Thr)
|
rs886042833
|
0.00094
|
|
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile)
|
rs150070966
|
0.00094
|
|
NM_014714.4(IFT140):c.1824A>G (p.Thr608=)
|
rs35433680
|
0.00094
|
|
NM_016616.5(NME8):c.610A>G (p.Ile204Val)
|
rs146777129
|
0.00094
|
|
NM_017565.4(FAM20A):c.193G>A (p.Gly65Ser)
|
rs143371801
|
0.00094
|
|
NM_018668.5(VPS33B):c.1274G>A (p.Ser425Asn)
|
rs139709507
|
0.00094
|
|
NM_020812.4(DOCK6):c.2594G>A (p.Arg865His)
|
rs199922090
|
0.00094
|
|
NM_022437.3(ABCG8):c.1941C>G (p.Val647=)
|
rs147991100
|
0.00094
|
|
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys)
|
rs61995921
|
0.00094
|
|
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln)
|
rs112070421
|
0.00094
|
|
NM_032447.5(FBN3):c.3088G>A (p.Asp1030Asn)
|
rs142237067
|
0.00094
|
|
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His)
|
rs146279300
|
0.00094
|
|
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=)
|
rs141028210
|
0.00094
|
|
NM_201525.4(ADGRG1):c.243C>T (p.Phe81=)
|
rs58068378
|
0.00094
|
|
NM_000016.6(ACADM):c.994C>T (p.Leu332=)
|
rs138098371
|
0.00093
|
|
NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp)
|
rs142582318
|
0.00093
|
|
NM_000037.4(ANK1):c.2132A>G (p.Tyr711Cys)
|
rs139375455
|
0.00093
|
|
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val)
|
rs148709148
|
0.00093
|
|
NM_000466.3(PEX1):c.2926+8T>C
|
rs369877998
|
0.00093
|
|
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)
|
rs142822371
|
0.00093
|
|
NM_001012339.3(DNAJC21):c.656C>T (p.Ala219Val)
|
rs144046917
|
0.00093
|
|
NM_001080516.2(GRXCR2):c.220C>G (p.Gln74Glu)
|
rs151087704
|
0.00093
|
|
NM_001244710.2(GFPT1):c.1882G>A (p.Val628Ile)
|
rs190072721
|
0.00093
|
|
NM_001292063.2(OTOG):c.2868-3C>T
|
rs565665118
|
0.00093
|
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
|
NM_001367624.2(ZNF469):c.9373C>T (p.Arg3125Cys)
|
rs543370102
|
0.00093
|
|
NM_001369268.1(ACAN):c.7092G>A (p.Lys2364=)
|
rs368979713
|
0.00093
|
|
NM_001384732.1(CPLANE1):c.7408A>G (p.Arg2470Gly)
|
rs144391535
|
0.00093
|
|
NM_001395413.1(POR):c.308A>G (p.His103Arg)
|
rs200622912
|
0.00093
|
|
NM_001737.5(C9):c.974C>T (p.Ala325Val)
|
rs147068084
|
0.00093
|
|
NM_001852.4(COL9A2):c.775G>A (p.Gly259Ser)
|
rs148362133
|
0.00093
|
|
NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln)
|
rs77477448
|
0.00093
|
|
NM_002225.5(IVD):c.164A>T (p.Lys55Met)
|
rs145999491
|
0.00093
|
|
NM_002227.4(JAK1):c.1951G>A (p.Val651Met)
|
rs149968614
|
0.00093
|
|
NM_003114.5(SPAG1):c.413T>C (p.Leu138Pro)
|
rs141605537
|
0.00093
|
|
NM_004999.4(MYO6):c.92T>C (p.Ile31Thr)
|
rs148735953
|
0.00093
|
|
NM_005529.7(HSPG2):c.10512C>T (p.His3504=)
|
rs55875654
|
0.00093
|
|
NM_005664.4(MKRN3):c.425G>C (p.Gly142Ala)
|
rs144864886
|
0.00093
|
|
NM_005883.3(APC2):c.3656C>T (p.Ala1219Val)
|
rs137877386
|
0.00093
|
|
NM_012309.5(SHANK2):c.2338A>C (p.Lys780Gln)
|
rs55968949
|
0.00093
|
|
NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp)
|
rs115536785
|
0.00093
|
|
NM_015972.4(POLR1D):c.329T>C (p.Val110Ala)
|
rs138256149
|
0.00093
|
|
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val)
|
rs138061928
|
0.00093
|
|
NM_017721.5(CC2D1A):c.2125+18G>A
|
rs201665826
|
0.00093
|
|
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu)
|
rs147316771
|
0.00093
|
|
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)
|
rs146789444
|
0.00093
|
|
NM_144991.3(TSPEAR):c.169C>T (p.Arg57Trp)
|
rs140542643
|
0.00093
|
|
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile)
|
rs146803767
|
0.00093
|
|
NM_194248.3(OTOF):c.1530C>T (p.Ile510=)
|
rs150452778
|
0.00093
|
|
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys)
|
rs139954767
|
0.00093
|
|
NM_201548.5(CERKL):c.735G>C (p.Leu245=)
|
rs140898616
|
0.00093
|
|
NM_000137.4(FAH):c.1205G>A (p.Arg402His)
|
rs147796599
|
0.00092
|
|
NM_000383.4(AIRE):c.901G>A (p.Val301Met)
|
rs150634562
|
0.00092
|
|
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)
|
rs146932786
|
0.00092
|
|
NM_001277115.2(DNAH11):c.9773A>G (p.Tyr3258Cys)
|
rs182808328
|
0.00092
|
|
NM_001277115.2(DNAH11):c.9795G>T (p.Glu3265Asp)
|
rs200614172
|
0.00092
|
|
NM_001291303.3(FAT4):c.11619C>T (p.Cys3873=)
|
rs141328606
|
0.00092
|
|
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro)
|
rs143779235
|
0.00092
|
|
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser)
|
rs143826762
|
0.00092
|
|
NM_004407.4(DMP1):c.263C>T (p.Ala88Val)
|
rs144773084
|
0.00092
|
|
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val)
|
rs150610444
|
0.00092
|
|
NM_006929.5(SKIC2):c.3470C>T (p.Thr1157Met)
|
rs201764098
|
0.00092
|
|
NM_012469.4(PRPF6):c.891C>T (p.Leu297=)
|
rs41278234
|
0.00092
|
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
|
NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=)
|
rs371534878
|
0.00092
|
|
NM_015425.6(POLR1A):c.4273-5G>A
|
rs370722814
|
0.00092
|
|
NM_015836.4(WARS2):c.754C>T (p.Arg252Cys)
|
rs149657255
|
0.00092
|
|
NM_016111.4(TELO2):c.32C>A (p.Ala11Asp)
|
rs144863771
|
0.00092
|
|
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg)
|
rs148134252
|
0.00092
|
|
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)
|
rs41303899
|
0.00092
|
|
NM_057176.3(BSND):c.527G>A (p.Arg176His)
|
rs143711308
|
0.00092
|
|
NM_144508.5(KNL1):c.2949A>G (p.Leu983=)
|
rs201182330
|
0.00092
|
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
|
NM_000426.4(LAMA2):c.9211+6T>C
|
rs201375881
|
0.00091
|
|
NM_000493.4(COL10A1):c.43T>G (p.Leu15Val)
|
rs147612968
|
0.00091
|
|
NM_001080.3(ALDH5A1):c.354+14G>A
|
rs572861590
|
0.00091
|
|
NM_001142864.4(PIEZO1):c.94C>A (p.Leu32Met)
|
rs370663645
|
0.00091
|
|
NM_001143992.2(WRAP53):c.1075C>T (p.Pro359Ser)
|
rs149359927
|
0.00091
|
|
NM_001291303.3(FAT4):c.7231A>T (p.Thr2411Ser)
|
rs147297895
|
0.00091
|
|
NM_001384474.1(LOXHD1):c.5546A>C (p.Asp1849Ala)
|
rs376636291
|
0.00091
|
|
NM_001457.4(FLNB):c.2453G>A (p.Arg818Gln)
|
rs151259375
|
0.00091
|
|
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser)
|
rs147120329
|
0.00091
|
|
NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp)
|
rs201399007
|
0.00091
|
|
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln)
|
rs202217097
|
0.00091
|
|
NM_003265.3(TLR3):c.441+3A>G
|
rs143625567
|
0.00091
|
|
NM_004304.5(ALK):c.4796C>A (p.Pro1599His)
|
rs1881423
|
0.00091
|
|
NM_004646.4(NPHS1):c.1151T>C (p.Met384Thr)
|
rs114112112
|
0.00091
|
|
NM_005045.4(RELN):c.1001G>A (p.Arg334His)
|
rs146922726
|
0.00091
|
|
NM_006892.4(DNMT3B):c.886G>A (p.Val296Ile)
|
rs145632647
|
0.00091
|
|
NM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr)
|
rs146022384
|
0.00091
|
|
NM_015135.3(NUP205):c.4883A>G (p.Gln1628Arg)
|
rs147336077
|
0.00091
|
|
NM_021076.4(NEFH):c.2368_2370del (p.Lys790del)
|
rs59551486
|
0.00091
|
|
NM_025074.7(FRAS1):c.2956G>A (p.Ala986Thr)
|
rs111554790
|
0.00091
|
|
NM_133259.4(LRPPRC):c.1295A>G (p.Glu432Gly)
|
rs144732922
|
0.00091
|
|
NM_138348.6(OTULIN):c.119A>G (p.Gln40Arg)
|
rs750815369
|
0.00091
|
|
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)
|
rs61754107
|
0.00091
|
|
NM_000026.4(ADSL):c.895A>G (p.Met299Val)
|
rs34396910
|
0.00090
|
|
NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr)
|
rs35140429
|
0.00090
|
|
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)
|
rs141911199
|
0.00090
|
|
NM_001384732.1(CPLANE1):c.9454G>A (p.Gly3152Arg)
|
rs144081297
|
0.00090
|
|
NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu)
|
rs140368756
|
0.00090
|
|
NM_002778.4(PSAP):c.174+9C>T
|
rs141133813
|
0.00090
|
|
NM_003322.6(TULP1):c.366G>T (p.Glu122Asp)
|
rs113772629
|
0.00090
|
|
NM_003327.4(TNFRSF4):c.494T>C (p.Ile165Thr)
|
rs150407012
|
0.00090
|
|
NM_003630.3(PEX3):c.165A>G (p.Gln55=)
|
rs41285015
|
0.00090
|
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
|
NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser)
|
rs138447102
|
0.00090
|
|
NM_212550.5(BLOC1S3):c.415G>T (p.Val139Leu)
|
rs749030472
|
0.00090
|
|
NM_000094.4(COL7A1):c.8530C>T (p.Arg2844Trp)
|
rs138002006
|
0.00089
|
|
NM_000290.4(PGAM2):c.459C>T (p.Cys153=)
|
rs143809043
|
0.00089
|
|
NM_000336.3(SCNN1B):c.1888G>A (p.Val630Ile)
|
rs72654357
|
0.00089
|
|
NM_000428.3(LTBP2):c.4072G>T (p.Ala1358Ser)
|
rs139138043
|
0.00089
|
|
NM_000434.4(NEU1):c.432C>T (p.Ser144=)
|
rs114405905
|
0.00089
|
|
NM_000550.3(TYRP1):c.1029C>T (p.Asp343=)
|
rs145061390
|
0.00089
|
|
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)
|
rs142063328
|
0.00089
|
|
NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg)
|
rs147127279
|
0.00089
|
|
NM_001235.5(SERPINH1):c.92G>C (p.Gly31Ala)
|
rs140588417
|
0.00089
|
|
NM_001277115.2(DNAH11):c.2783A>T (p.Asp928Val)
|
rs201386161
|
0.00089
|
|
NM_001395413.1(POR):c.678C>T (p.Ala226=)
|
rs72557906
|
0.00089
|
|
NM_002439.5(MSH3):c.2005C>T (p.Arg669Trp)
|
rs35045151
|
0.00089
|
|
NM_003737.4(DCHS1):c.7448C>T (p.Thr2483Ile)
|
rs146434035
|
0.00089
|
|
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg)
|
rs149414160
|
0.00089
|
|
NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu)
|
rs140918583
|
0.00089
|
|
NM_004525.3(LRP2):c.9311G>A (p.Ser3104Asn)
|
rs139523655
|
0.00089
|
|
NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser)
|
rs150926439
|
0.00089
|
|
NM_005546.4(ITK):c.1510A>T (p.Thr504Ser)
|
rs151046132
|
0.00089
|
|
NM_005559.4(LAMA1):c.2808+5G>A
|
rs201030108
|
0.00089
|
|
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val)
|
rs139046510
|
0.00089
|
|
NM_006891.4(CRYGD):c.181G>T (p.Gly61Cys)
|
rs150857132
|
0.00089
|
|
NM_006907.4(PYCR1):c.465C>T (p.Ser155=)
|
rs149683289
|
0.00089
|
|
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val)
|
rs145891813
|
0.00089
|
|
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys)
|
rs116833707
|
0.00089
|
|
NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys)
|
rs143722284
|
0.00089
|
|
NM_018249.6(CDK5RAP2):c.1218G>A (p.Gln406=)
|
rs61758368
|
0.00089
|
|
NM_194248.3(OTOF):c.3385G>A (p.Val1129Met)
|
rs138249243
|
0.00089
|
|
NM_000085.5(CLCNKB):c.700T>C (p.Trp234Arg)
|
rs144517772
|
0.00088
|
|
NM_000208.4(INSR):c.2793G>A (p.Ala931=)
|
rs111502197
|
0.00088
|
|
NM_000236.3(LIPC):c.815C>T (p.Thr272Ile)
|
rs148453176
|
0.00088
|
|
NM_000250.2(MPO):c.1379G>A (p.Arg460Gln)
|
rs149133270
|
0.00088
|
|
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu)
|
rs199989979
|
0.00088
|
|
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly)
|
rs148064565
|
0.00088
|
|
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)
|
rs200164758
|
0.00088
|
|
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg)
|
rs144498273
|
0.00088
|
|
NM_001042545.2(LTBP4):c.814G>T (p.Ala272Ser)
|
rs199990200
|
0.00088
|
|
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile)
|
rs150555123
|
0.00088
|
|
NM_001378609.3(OTOGL):c.2357T>C (p.Phe786Ser)
|
rs192944055
|
0.00088
|
|
NM_001394062.1(MACF1):c.4045C>A (p.Leu1349Met)
|
rs141025026
|
0.00088
|
|
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu)
|
rs373605761
|
0.00088
|
|
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)
|
rs183130583
|
0.00088
|
|
NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys)
|
rs77281462
|
0.00088
|
|
NM_002972.4(SBF1):c.898-4G>A
|
rs377428323
|
0.00088
|
|
NM_004530.6(MMP2):c.1233G>A (p.Leu411=)
|
rs140172728
|
0.00088
|
|
NM_005529.7(HSPG2):c.12580G>A (p.Gly4194Arg)
|
rs144496753
|
0.00088
|
|
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg)
|
rs149623054
|
0.00088
|
|
NM_006785.4(MALT1):c.649+9C>T
|
rs200919386
|
0.00088
|
|
NM_014339.7(IL17RA):c.465G>C (p.Gln155His)
|
rs142199303
|
0.00088
|
|
NM_020458.4(TTC7A):c.2484G>C (p.Gln828His)
|
rs151032299
|
0.00088
|
|
NM_025074.7(FRAS1):c.4095C>T (p.Ile1365=)
|
rs79869130
|
0.00088
|
|
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)
|
rs41308297
|
0.00088
|
|
NM_053025.4(MYLK):c.3832-6C>T
|
rs185681684
|
0.00088
|
|
NM_080473.5(GATA5):c.477C>G (p.Phe159Leu)
|
rs112433432
|
0.00088
|
|
NM_000208.4(INSR):c.959C>T (p.Thr320Met)
|
rs138528064
|
0.00087
|
|
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)
|
rs147293270
|
0.00087
|
|
NM_000282.4(PCCA):c.2040+11dup
|
rs779884567
|
0.00087
|
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
|
NM_001166114.2(PNPLA6):c.3912C>T (p.Asp1304=)
|
rs149871062
|
0.00087
|
|
NM_001291303.3(FAT4):c.3682C>G (p.Gln1228Glu)
|
rs200227715
|
0.00087
|
|
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His)
|
rs189248390
|
0.00087
|
|
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)
|
rs199768740
|
0.00087
|
|
NM_001379081.2(FREM1):c.5622G>C (p.Trp1874Cys)
|
rs61745612
|
0.00087
|
|
NM_001887.4(CRYBB1):c.156G>A (p.Ala52=)
|
rs149902597
|
0.00087
|
|
NM_014588.6(VSX1):c.173C>T (p.Pro58Leu)
|
rs369865672
|
0.00087
|
|
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=)
|
rs564053026
|
0.00087
|
|
NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu)
|
rs58625281
|
0.00087
|
|
NM_020745.4(AARS2):c.1621G>A (p.Glu541Lys)
|
rs142094090
|
0.00087
|
|
NM_020745.4(AARS2):c.1649G>C (p.Gly550Ala)
|
rs79962181
|
0.00087
|
|
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met)
|
rs200654041
|
0.00087
|
|
NM_178857.6(RP1L1):c.652G>T (p.Val218Leu)
|
rs77679870
|
0.00087
|
|
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)
|
rs35885472
|
0.00086
|
|
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys)
|
rs115227204
|
0.00086
|
|
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile)
|
rs113209379
|
0.00086
|
|
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=)
|
rs146538551
|
0.00086
|
|
NM_000213.5(ITGB4):c.2638G>A (p.Asp880Asn)
|
rs139092703
|
0.00086
|
|
NM_001003722.2(GLE1):c.823G>A (p.Asp275Asn)
|
rs146800850
|
0.00086
|
|
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)
|
rs146731467
|
0.00086
|
|
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met)
|
rs141862602
|
0.00086
|
|
NM_001256789.3(CACNA1F):c.2764G>A (p.Gly922Ser)
|
rs149685267
|
0.00086
|
|
NM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile)
|
rs146406037
|
0.00086
|
|
NM_001358921.2(COQ2):c.44C>G (p.Ala15Gly)
|
rs555411841
|
0.00086
|
|
NM_001369.3(DNAH5):c.8731A>G (p.Asn2911Asp)
|
rs142852982
|
0.00086
|
|
NM_001378778.1(MPDZ):c.4421A>T (p.Asp1474Val)
|
rs201277979
|
0.00086
|
|
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys)
|
rs148104494
|
0.00086
|
|
NM_003283.6(TNNT1):c.750+15C>T
|
rs138664823
|
0.00086
|
|
NM_003922.4(HERC1):c.1259C>T (p.Thr420Met)
|
rs201387092
|
0.00086
|
|
NM_004183.4(BEST1):c.1571T>C (p.Met524Thr)
|
rs145209035
|
0.00086
|
|
NM_006031.6(PCNT):c.7803G>A (p.Ala2601=)
|
rs144869229
|
0.00086
|
|
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe)
|
rs140729669
|
0.00086
|
|
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His)
|
rs73464271
|
0.00086
|
|
NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala)
|
rs141650732
|
0.00086
|
|
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys)
|
rs141392067
|
0.00086
|
|
NM_018013.4(SOBP):c.1810C>A (p.Gln604Lys)
|
rs368271940
|
0.00086
|
|
NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala)
|
rs149388376
|
0.00086
|
|
NM_020442.6(VARS2):c.2589G>C (p.Glu863Asp)
|
rs143473050
|
0.00086
|
|
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro)
|
rs8178989
|
0.00086
|
|
NM_030928.4(CDT1):c.758G>A (p.Arg253His)
|
rs148337159
|
0.00086
|
|
NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys)
|
rs183851734
|
0.00086
|
|
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=)
|
rs371831553
|
0.00086
|
|
NM_152416.4(NDUFAF6):c.738T>C (p.Phe246=)
|
rs202047755
|
0.00086
|
|
NM_174936.4(PCSK9):c.1171C>A (p.His391Asn)
|
rs146471967
|
0.00086
|
|
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)
|
rs143427811
|
0.00086
|
|
NM_000439.5(PCSK1):c.1387G>A (p.Glu463Lys)
|
rs143174906
|
0.00085
|
|
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
|
rs147707463
|
0.00085
|
|
NM_001369.3(DNAH5):c.6752C>T (p.Thr2251Met)
|
rs146392250
|
0.00085
|
|
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr)
|
rs140736502
|
0.00085
|
|
NM_001457.4(FLNB):c.2494G>A (p.Ala832Thr)
|
rs114804033
|
0.00085
|
|
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)
|
rs77300588
|
0.00085
|
|
NM_003977.4(AIP):c.301G>A (p.Val101Met)
|
rs147931650
|
0.00085
|
|
NM_004826.4(ECEL1):c.1868G>C (p.Gly623Ala)
|
rs138272112
|
0.00085
|
|
NM_004963.4(GUCY2C):c.893C>T (p.Thr298Met)
|
rs148946391
|
0.00085
|
|
NM_014915.3(ANKRD26):c.1451T>C (p.Val484Ala)
|
rs201461870
|
0.00085
|
|
NM_016343.4(CENPF):c.4520C>T (p.Ser1507Phe)
|
rs145589304
|
0.00085
|
|
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala)
|
rs148410446
|
0.00085
|
|
NM_018075.5(ANO10):c.88G>C (p.Glu30Gln)
|
rs147605535
|
0.00085
|
|
NM_022098.4(XPNPEP3):c.817A>G (p.Ser273Gly)
|
rs138501598
|
0.00085
|
|
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser)
|
rs150549897
|
0.00085
|
|
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro)
|
rs201984297
|
0.00085
|
|
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys)
|
rs61760166
|
0.00084
|
|
NM_000211.5(ITGB2):c.2050C>T (p.Arg684Cys)
|
rs147238010
|
0.00084
|
|
NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile)
|
rs139964603
|
0.00084
|
|
NM_000732.6(CD3D):c.52C>A (p.Gln18Lys)
|
rs141902449
|
0.00084
|
|
NM_001080414.4(CCDC88C):c.1527+8G>A
|
rs151228192
|
0.00084
|
|
NM_001083961.2(WDR62):c.2381C>G (p.Pro794Arg)
|
rs149431376
|
0.00084
|
|
NM_001134665.3(TRMT10A):c.955C>A (p.Pro319Thr)
|
rs143207059
|
0.00084
|
|
NM_001193315.2(VIPAS39):c.1460C>T (p.Ser487Leu)
|
rs140365206
|
0.00084
|
|
NM_001200.4(BMP2):c.561C>T (p.Pro187=)
|
rs149465465
|
0.00084
|
|
NM_001350162.2(TEX15):c.9474G>A (p.Trp3158Ter)
|
rs146619272
|
0.00084
|
|
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)
|
rs149685738
|
0.00084
|
|
NM_004525.3(LRP2):c.987G>A (p.Ala329=)
|
rs141751667
|
0.00084
|
|
NM_005529.7(HSPG2):c.10917C>T (p.Tyr3639=)
|
rs111558823
|
0.00084
|
|
NM_006059.4(LAMC3):c.2276G>A (p.Gly759Asp)
|
rs150859618
|
0.00084
|
|
NM_014363.6(SACS):c.8972G>A (p.Arg2991His)
|
rs192610957
|
0.00084
|
|
NM_022726.4(ELOVL4):c.931G>A (p.Ala311Thr)
|
rs189898207
|
0.00084
|
|
NM_032634.4(PIGO):c.626A>G (p.Asn209Ser)
|
rs138028827
|
0.00084
|
|
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu)
|
rs139804851
|
0.00084
|
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
|
NM_000124.4(ERCC6):c.2390C>G (p.Ser797Cys)
|
rs146043988
|
0.00083
|
|
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val)
|
rs5397
|
0.00083
|
|
NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys)
|
rs61745147
|
0.00083
|
|
NM_000733.4(CD3E):c.470C>T (p.Ala157Val)
|
rs140639753
|
0.00083
|
|
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
|
NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu)
|
rs114108462
|
0.00083
|
|
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile)
|
rs182125538
|
0.00083
|
|
NM_001680.5(FXYD2):c.28G>A (p.Gly10Ser)
|
rs146614981
|
0.00083
|
|
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)
|
rs192047082
|
0.00083
|
|
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe)
|
rs149028067
|
0.00083
|
|
NM_002334.4(LRP4):c.257G>A (p.Arg86His)
|
rs138239756
|
0.00083
|
|
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys)
|
rs115031549
|
0.00083
|
|
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser)
|
rs145319352
|
0.00083
|
|
NM_004525.3(LRP2):c.9650A>G (p.Tyr3217Cys)
|
rs143150497
|
0.00083
|
|
NM_005262.3(GFER):c.550C>A (p.Pro184Thr)
|
rs183638147
|
0.00083
|
|
NM_005529.7(HSPG2):c.8941G>A (p.Val2981Ile)
|
rs2229490
|
0.00083
|
|
NM_006005.3(WFS1):c.2195G>A (p.Arg732His)
|
rs149013740
|
0.00083
|
|
NM_006005.3(WFS1):c.966C>T (p.His322=)
|
rs140196582
|
0.00083
|
|
NM_006086.4(TUBB3):c.921C>T (p.His307=)
|
rs147283850
|
0.00083
|
|
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp)
|
rs139063843
|
0.00083
|
|
NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr)
|
rs41274600
|
0.00083
|
|
NM_012208.4(HARS2):c.784C>G (p.Pro262Ala)
|
rs145104612
|
0.00083
|
|
NM_012472.6(DNAAF11):c.232A>G (p.Ile78Val)
|
rs146175329
|
0.00083
|
|
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)
|
rs56059137
|
0.00083
|
|
NM_018060.4(IARS2):c.1057A>T (p.Thr353Ser)
|
rs141215374
|
0.00083
|
|
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro)
|
rs146970674
|
0.00083
|
|
NM_019066.5(MAGEL2):c.2362A>T (p.Ser788Cys)
|
rs113329438
|
0.00083
|
|
NM_019066.5(MAGEL2):c.3690G>C (p.Glu1230Asp)
|
rs34875116
|
0.00083
|
|
NM_021098.3(CACNA1H):c.5924C>T (p.Ser1975Phe)
|
rs186422070
|
0.00083
|
|
NM_022095.4(ZNF335):c.1646+5G>T
|
rs149232277
|
0.00083
|
|
NM_024105.4(ALG12):c.1299C>T (p.Leu433=)
|
rs150614794
|
0.00083
|
|
NM_024678.6(NARS2):c.1042C>T (p.Arg348Trp)
|
rs149061222
|
0.00083
|
|
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile)
|
rs202110635
|
0.00083
|
|
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)
|
rs202064612
|
0.00083
|
|
NM_032119.4(ADGRV1):c.9447+6G>A
|
rs201481219
|
0.00083
|
|
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)
|
rs71534280
|
0.00083
|
|
NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln)
|
rs140294222
|
0.00083
|
|
NM_139076.3(ABRAXAS1):c.755G>A (p.Arg252Gln)
|
rs114513239
|
0.00083
|
|
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg)
|
rs142951029
|
0.00083
|
|
NM_183357.3(ADCY5):c.2347G>A (p.Val783Met)
|
rs147630334
|
0.00083
|
|
NM_183357.3(ADCY5):c.55G>A (p.Ala19Thr)
|
rs550254165
|
0.00083
|
|
NM_205850.3(SLC24A5):c.347C>G (p.Ala116Gly)
|
rs150379789
|
0.00083
|
|
NM_213595.4(ISCU):c.475C>G (p.Pro159Ala)
|
rs113036584
|
0.00083
|
|
NM_000092.5(COL4A4):c.195T>C (p.Gly65=)
|
rs201278620
|
0.00082
|
|
NM_000124.4(ERCC6):c.3719G>T (p.Ser1240Ile)
|
rs142219494
|
0.00082
|
|
NM_000326.5(RLBP1):c.303C>T (p.Arg101=)
|
rs144254383
|
0.00082
|
|
NM_000452.3(SLC10A2):c.425C>T (p.Pro142Leu)
|
rs117447044
|
0.00082
|
|
NM_001029883.3(PCARE):c.667C>G (p.Leu223Val)
|
rs372323929
|
0.00082
|
|
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=)
|
rs72647541
|
0.00082
|
|
NM_001039141.3(TRIOBP):c.3309C>T (p.His1103=)
|
rs199594270
|
0.00082
|
|
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)
|
rs138654170
|
0.00082
|
|
NM_001384910.1(GUCA1A):c.152C>T (p.Ser51Leu)
|
rs137931613
|
0.00082
|
|
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu)
|
rs199543866
|
0.00082
|
|
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)
|
rs143626223
|
0.00082
|
|
NM_015114.3(ANKLE2):c.530C>T (p.Ser177Leu)
|
rs185977448
|
0.00082
|
|
NM_020458.4(TTC7A):c.1138G>A (p.Ala380Thr)
|
rs115479276
|
0.00082
|
|
NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg)
|
rs61731735
|
0.00082
|
|
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile)
|
rs113536228
|
0.00082
|
|
NM_000063.6(C2):c.2171C>T (p.Pro724Leu)
|
rs145050210
|
0.00081
|
|
NM_000128.4(F11):c.797G>A (p.Ser266Asn)
|
rs145168351
|
0.00081
|
|
NM_000130.5(F5):c.4405T>C (p.Ser1469Pro)
|
rs144262027
|
0.00081
|
|
NM_000159.4(GCDH):c.471C>T (p.Ser157=)
|
rs146682905
|
0.00081
|
|
NM_000203.5(IDUA):c.408C>T (p.Ala136=)
|
rs138195998
|
0.00081
|
|
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)
|
rs61736440
|
0.00081
|
|
NM_000410.4(HFE):c.829G>A (p.Glu277Lys)
|
rs140080192
|
0.00081
|
|
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=)
|
rs547740249
|
0.00081
|
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
|
NM_001134665.3(TRMT10A):c.665C>T (p.Ala222Val)
|
rs140905333
|
0.00081
|
|
NM_001277115.2(DNAH11):c.11374A>G (p.Ile3792Val)
|
rs201700629
|
0.00081
|
|
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met)
|
rs113688475
|
0.00081
|
|
NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn)
|
rs867530230
|
0.00081
|
|
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile)
|
rs150887098
|
0.00081
|
|
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala)
|
rs144937332
|
0.00081
|
|
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)
|
rs145017164
|
0.00081
|
|
NM_001875.5(CPS1):c.2192+6A>T
|
rs201058019
|
0.00081
|
|
NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys)
|
rs114030714
|
0.00081
|
|
NM_002206.3(ITGA7):c.2651A>T (p.Glu884Val)
|
rs149963176
|
0.00081
|
|
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr)
|
rs142658611
|
0.00081
|
|
NM_002500.5(NEUROD1):c.610C>T (p.Pro204Ser)
|
rs142123958
|
0.00081
|
|
NM_002546.4(TNFRSF11B):c.234C>T (p.Asp78=)
|
rs144654126
|
0.00081
|
|
NM_004181.5(UCHL1):c.370A>C (p.Met124Leu)
|
rs150601238
|
0.00081
|
|
NM_004568.6(SERPINB6):c.100A>G (p.Met34Val)
|
rs145538358
|
0.00081
|
|
NM_004577.4(PSPH):c.455C>T (p.Thr152Ile)
|
rs147304638
|
0.00081
|
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
0.00081
|
|
NM_006901.4(MYO9A):c.1987-6A>G
|
rs200246273
|
0.00081
|
|
NM_006946.4(SPTBN2):c.157+5G>A
|
rs150159444
|
0.00081
|
|
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr)
|
rs151086692
|
0.00081
|
|
NM_012301.4(MAGI2):c.2454C>T (p.Arg818=)
|
rs148580718
|
0.00081
|
|
NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser)
|
rs147849568
|
0.00081
|
|
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)
|
rs149372969
|
0.00081
|
|
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile)
|
rs143960563
|
0.00081
|
|
NM_024996.7(GFM1):c.667A>G (p.Ile223Val)
|
rs143446452
|
0.00081
|
|
NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser)
|
rs138791086
|
0.00081
|
|
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys)
|
rs140613217
|
0.00081
|
|
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val)
|
rs142284613
|
0.00081
|
|
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)
|
rs142085247
|
0.00080
|
|
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His)
|
rs200509072
|
0.00080
|
|
NM_000108.5(DLD):c.788G>A (p.Arg263His)
|
rs145670503
|
0.00080
|
|
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)
|
rs201826605
|
0.00080
|
|
NM_000207.2(INS):c.-139A>G
|
rs571342427
|
0.00080
|
|
NM_000452.3(SLC10A2):c.194C>T (p.Pro65Leu)
|
rs112657170
|
0.00080
|
|
NM_000521.4(HEXB):c.1082+13C>T
|
rs201428805
|
0.00080
|
|
NM_000532.5(PCCB):c.882C>T (p.Pro294=)
|
rs142730126
|
0.00080
|
|
NM_000540.3(RYR1):c.14257G>A (p.Ala4753Thr)
|
rs138156449
|
0.00080
|
|
NM_000540.3(RYR1):c.7536C>T (p.Ile2512=)
|
rs368560744
|
0.00080
|
|
NM_001036.6(RYR3):c.5393G>A (p.Arg1798Gln)
|
rs148818748
|
0.00080
|
|
NM_001040716.2(PC):c.2550C>T (p.Cys850=)
|
rs61749179
|
0.00080
|
|
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe)
|
rs71653633
|
0.00080
|
|
NM_001089.3(ABCA3):c.2216G>C (p.Gly739Ala)
|
rs150175668
|
0.00080
|
|
NM_001142864.4(PIEZO1):c.3602C>T (p.Thr1201Met)
|
rs372935580
|
0.00080
|
|
NM_001256545.2(MEGF10):c.1975+10G>A
|
rs148814585
|
0.00080
|
|
NM_001277115.2(DNAH11):c.13049+15C>T
|
rs200860431
|
0.00080
|
|
NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg)
|
rs114286628
|
0.00080
|
|
NM_003151.4(STAT4):c.1337C>T (p.Thr446Ile)
|
rs141331848
|
0.00080
|
|
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr)
|
rs145662304
|
0.00080
|
|
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00080
|
|
NM_017491.5(WDR1):c.1433C>T (p.Thr478Met)
|
rs186889066
|
0.00080
|
|
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser)
|
rs139287714
|
0.00080
|
|
NM_024596.5(MCPH1):c.1193C>T (p.Ala398Val)
|
rs202241113
|
0.00080
|
|
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys)
|
rs144018942
|
0.00080
|
|
NM_198271.5(LMOD3):c.247C>T (p.Arg83Cys)
|
rs200367429
|
0.00080
|
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
|
NM_000016.6(ACADM):c.645T>A (p.Ala215=)
|
rs147395095
|
0.00079
|
|
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)
|
rs140169311
|
0.00079
|
|
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)
|
rs144562730
|
0.00079
|
|
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)
|
rs62645939
|
0.00079
|
|
NM_001004334.4(GPR179):c.5982C>T (p.Ala1994=)
|
rs185715311
|
0.00079
|
|
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu)
|
rs142585703
|
0.00079
|
|
NM_001379270.1(CNGA1):c.360C>T (p.Asn120=)
|
rs147591591
|
0.00079
|
|
NM_001793.6(CDH3):c.2356G>A (p.Gly786Ser)
|
rs34813787
|
0.00079
|
|
NM_001844.5(COL2A1):c.1068G>A (p.Pro356=)
|
rs147202936
|
0.00079
|
|
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala)
|
rs202176764
|
0.00079
|
|
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys)
|
rs111404182
|
0.00079
|
|
NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=)
|
rs149521997
|
0.00079
|
|
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)
|
rs150572999
|
0.00079
|
|
NM_004366.6(CLCN2):c.370C>T (p.Arg124Trp)
|
rs139188499
|
0.00079
|
|
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp)
|
rs116316900
|
0.00079
|
|
NM_005559.4(LAMA1):c.6025G>A (p.Ala2009Thr)
|
rs147813944
|
0.00079
|
|
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)
|
rs147366706
|
0.00079
|
|
NM_006059.4(LAMC3):c.2227A>G (p.Asn743Asp)
|
rs36030184
|
0.00079
|
|
NM_006302.3(MOGS):c.1851T>A (p.His617Gln)
|
rs199939051
|
0.00079
|
|
NM_012254.3(SLC27A5):c.934G>A (p.Val312Ile)
|
rs146682651
|
0.00079
|
|
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=)
|
rs201196622
|
0.00079
|
|
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala)
|
rs200532919
|
0.00079
|
|
NM_018668.5(VPS33B):c.1714T>G (p.Phe572Val)
|
rs145092724
|
0.00079
|
|
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp)
|
rs74162075
|
0.00079
|
|
NM_130810.4(DNAAF4):c.862A>G (p.Lys288Glu)
|
rs147149511
|
0.00079
|
|
NM_173630.4(RTTN):c.4615G>A (p.Asp1539Asn)
|
rs201473797
|
0.00079
|
|
NM_173689.7(CRB2):c.2519C>G (p.Pro840Arg)
|
rs61740212
|
0.00079
|
|
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile)
|
rs148540696
|
0.00078
|
|
NM_000271.5(NPC1):c.1947+8G>C
|
rs66620415
|
0.00078
|
|
NM_000275.3(OCA2):c.1117-17T>C
|
rs200081580
|
0.00078
|
|
NM_000283.4(PDE6B):c.1497T>G (p.Phe499Leu)
|
rs150000610
|
0.00078
|
|
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)
|
rs140473672
|
0.00078
|
|
NM_000433.4(NCF2):c.938C>T (p.Pro313Leu)
|
rs137937390
|
0.00078
|
|
NM_001083961.2(WDR62):c.3303G>A (p.Thr1101=)
|
rs117887683
|
0.00078
|
|
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=)
|
rs200588338
|
0.00078
|
|
NM_001160372.4(TRAPPC9):c.3241G>A (p.Val1081Ile)
|
rs141067069
|
0.00078
|
|
NM_001277115.2(DNAH11):c.12969G>C (p.Gln4323His)
|
rs191802172
|
0.00078
|
|
NM_001277313.2(FMN1):c.3974A>G (p.Gln1325Arg)
|
rs147769257
|
0.00078
|
|
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)
|
rs72954276
|
0.00078
|
|
NM_001363711.2(DUOX2):c.4637A>G (p.Glu1546Gly)
|
rs201229193
|
0.00078
|
|
NM_001384732.1(CPLANE1):c.2132C>T (p.Ser711Leu)
|
rs116237993
|
0.00078
|
|
NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile)
|
rs61757375
|
0.00078
|
|
NM_001918.5(DBT):c.327C>T (p.Thr109=)
|
rs138796800
|
0.00078
|
|
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn)
|
rs138269726
|
0.00078
|
|
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr)
|
rs138125827
|
0.00078
|
|
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr)
|
rs116630187
|
0.00078
|
|
NM_006059.4(LAMC3):c.3374C>T (p.Ser1125Leu)
|
rs151213335
|
0.00078
|
|
NM_014317.5(PDSS1):c.760G>C (p.Glu254Gln)
|
rs145758711
|
0.00078
|
|
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met)
|
rs143728180
|
0.00078
|
|
NM_016123.4(IRAK4):c.291G>A (p.Ala97=)
|
rs17851028
|
0.00078
|
|
NM_017636.4(TRPM4):c.2561A>G (p.Gln854Arg)
|
rs172155862
|
0.00078
|
|
NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=)
|
rs145386883
|
0.00078
|
|
NM_021645.6(UTP14C):c.-486-6T>C
|
rs200751186
|
0.00078
|
|
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr)
|
rs150317197
|
0.00078
|
|
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met)
|
rs557989446
|
0.00078
|
|
NM_052867.4(NALCN):c.4103+4G>C
|
rs201402954
|
0.00078
|
|
NM_139027.6(ADAMTS13):c.3658G>A (p.Gly1220Arg)
|
rs144808448
|
0.00078
|
|
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg)
|
rs147328685
|
0.00078
|
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
|
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)
|
rs149253719
|
0.00078
|
|
NM_000123.4(ERCC5):c.2534-10T>G
|
rs199562917
|
0.00077
|
|
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys)
|
rs112250644
|
0.00077
|
|
NM_000369.5(TSHR):c.1783G>A (p.Val595Ile)
|
rs142632518
|
0.00077
|
|
NM_000512.5(GALNS):c.324C>T (p.Tyr108=)
|
rs150582627
|
0.00077
|
|
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)
|
rs143318498
|
0.00077
|
|
NM_000666.3(ACY1):c.332C>T (p.Ala111Val)
|
rs149475049
|
0.00077
|
|
NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu)
|
rs139460397
|
0.00077
|
|
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser)
|
rs145102275
|
0.00077
|
|
NM_001142864.4(PIEZO1):c.5291A>C (p.Glu1764Ala)
|
rs530387460
|
0.00077
|
|
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
|
rs121912705
|
0.00077
|
|
NM_001164508.2(NEB):c.1258-7C>G
|
rs371265681
|
0.00077
|
|
NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr)
|
rs113631419
|
0.00077
|
|
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly)
|
rs141571121
|
0.00077
|
|
NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=)
|
rs375307767
|
0.00077
|
|
NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg)
|
rs149459564
|
0.00077
|
|
NM_002335.4(LRP5):c.1413-7T>A
|
rs141889567
|
0.00077
|
|
NM_002454.3(MTRR):c.446C>T (p.Ala149Val)
|
rs142714881
|
0.00077
|
|
NM_003737.4(DCHS1):c.704G>A (p.Arg235Gln)
|
rs143767864
|
0.00077
|
|
NM_004366.6(CLCN2):c.2683G>A (p.Asp895Asn)
|
rs150751460
|
0.00077
|
|
NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser)
|
rs145830034
|
0.00077
|
|
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser)
|
rs150622626
|
0.00077
|
|
NM_005876.5(SPEG):c.6694C>A (p.Pro2232Thr)
|
rs371302780
|
0.00077
|
|
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu)
|
rs148677674
|
0.00077
|
|
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)
|
rs143155918
|
0.00077
|
|
NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu)
|
rs553561553
|
0.00077
|
|
NM_014252.4(SLC25A15):c.564C>T (p.Phe188=)
|
rs141028076
|
0.00077
|
|
NM_014669.5(NUP93):c.2342G>A (p.Arg781His)
|
rs147381896
|
0.00077
|
|
NM_022458.4(LMBR1):c.843G>A (p.Arg281=)
|
rs140806590
|
0.00077
|
|
NM_025207.5(FLAD1):c.1309C>T (p.Arg437Cys)
|
rs146865554
|
0.00077
|
|
NM_032387.5(WNK4):c.2157+6G>C
|
rs61755607
|
0.00077
|
|
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala)
|
rs144140226
|
0.00077
|
|
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln)
|
rs145343609
|
0.00077
|
|
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00077
|
|
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln)
|
rs145210664
|
0.00076
|
|
NM_000341.4(SLC3A1):c.788G>C (p.Ser263Thr)
|
rs139310305
|
0.00076
|
|
NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser)
|
rs144900788
|
0.00076
|
|
NM_000483.5(APOC2):c.85G>A (p.Asp29Asn)
|
rs147242592
|
0.00076
|
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
|
NM_001003722.2(GLE1):c.5C>G (p.Pro2Arg)
|
rs150246404
|
0.00076
|
|
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly)
|
rs535825137
|
0.00076
|
|
NM_001206744.2(TPO):c.660C>T (p.Val220=)
|
rs151154074
|
0.00076
|
|
NM_001256545.2(MEGF10):c.1130+3G>A
|
rs115184652
|
0.00076
|
|
NM_001278512.2(AP3B2):c.2394C>T (p.Ser798=)
|
rs189447069
|
0.00076
|
|
NM_001278716.2(FBXL4):c.737T>C (p.Ile246Thr)
|
rs143154211
|
0.00076
|
|
NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys)
|
rs150556877
|
0.00076
|
|
NM_002296.4(LBR):c.1237C>T (p.Arg413Cys)
|
rs144672633
|
0.00076
|
|
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)
|
rs144807538
|
0.00076
|
|
NM_003126.4(SPTA1):c.3167G>T (p.Arg1056Leu)
|
rs188875641
|
0.00076
|
|
NM_003193.5(TBCE):c.253A>G (p.Ile85Val)
|
rs143886167
|
0.00076
|
|
NM_003737.4(DCHS1):c.590C>T (p.Pro197Leu)
|
rs145099391
|
0.00076
|
|
NM_003764.4(STX11):c.26T>G (p.Leu9Arg)
|
rs34470310
|
0.00076
|
|
NM_004453.4(ETFDH):c.832-10T>G
|
rs200911913
|
0.00076
|
|
NM_004782.4(SNAP29):c.629C>T (p.Ser210Phe)
|
rs141934766
|
0.00076
|
|
NM_005199.5(CHRNG):c.1100T>C (p.Val367Ala)
|
rs74691009
|
0.00076
|
|
NM_006005.3(WFS1):c.1152C>T (p.Phe384=)
|
rs149846741
|
0.00076
|
|
NM_016239.4(MYO15A):c.269T>C (p.Met90Thr)
|
rs373294263
|
0.00076
|
|
NM_016341.4(PLCE1):c.2786G>C (p.Ser929Thr)
|
rs61732521
|
0.00076
|
|
NM_016341.4(PLCE1):c.4935G>A (p.Leu1645=)
|
rs369632735
|
0.00076
|
|
NM_017721.5(CC2D1A):c.2508G>C (p.Glu836Asp)
|
rs34146052
|
0.00076
|
|
NM_020458.4(TTC7A):c.1633G>A (p.Val545Ile)
|
rs6755258
|
0.00076
|
|
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys)
|
rs79324540
|
0.00076
|
|
NM_025009.5(CEP135):c.2806A>G (p.Ile936Val)
|
rs139474852
|
0.00076
|
|
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)
|
rs78518523
|
0.00076
|
|
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile)
|
rs150185067
|
0.00076
|
|
NM_182914.3(SYNE2):c.13424T>C (p.Val4475Ala)
|
rs146977539
|
0.00076
|
|
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr)
|
rs111033351
|
0.00076
|
|
NM_194318.4(B3GLCT):c.850+11G>A
|
rs199615610
|
0.00076
|
|
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu)
|
rs146913105
|
0.00076
|
|
NM_000073.3(CD3G):c.56G>A (p.Gly19Asp)
|
rs146393315
|
0.00075
|
|
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln)
|
rs139281846
|
0.00075
|
|
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly)
|
rs28730708
|
0.00075
|
|
NM_000883.4(IMPDH1):c.1173A>G (p.Thr391=)
|
rs138502867
|
0.00075
|
|
NM_001083961.2(WDR62):c.3763G>A (p.Val1255Ile)
|
rs146180208
|
0.00075
|
|
NM_001111077.2(EZR):c.959+7G>A
|
rs201317128
|
0.00075
|
|
NM_001130987.2(DYSF):c.6174-9C>T
|
rs201070766
|
0.00075
|
|
NM_001349.4(DARS1):c.1150-5T>G
|
rs199776135
|
0.00075
|
|
NM_001365999.1(SZT2):c.8916+8G>A
|
rs147419780
|
0.00075
|
|
NM_001374385.1(ATP8B1):c.1892G>A (p.Arg631Gln)
|
rs150499790
|
0.00075
|
|
NM_001378183.1(PIEZO2):c.6153C>T (p.Ala2051=)
|
rs375812718
|
0.00075
|
|
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His)
|
rs147633715
|
0.00075
|
|
NM_006397.3(RNASEH2A):c.328A>C (p.Lys110Gln)
|
rs143029477
|
0.00075
|
|
NM_015909.4(NBAS):c.3361-19A>G
|
rs201607999
|
0.00075
|
|
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)
|
rs138480247
|
0.00075
|
|
NM_022095.4(ZNF335):c.3445A>G (p.Ile1149Val)
|
rs143113106
|
0.00075
|
|
NM_025207.5(FLAD1):c.787C>T (p.Arg263Trp)
|
rs146501091
|
0.00075
|
|
NM_052961.4(SLC26A8):c.2434G>A (p.Glu812Lys)
|
rs142724470
|
0.00075
|
|
NM_052989.3(IFT122):c.1026C>T (p.Asp342=)
|
rs79187669
|
0.00075
|
|
NM_080916.3(DGUOK):c.630G>A (p.Glu210=)
|
rs115206553
|
0.00075
|
|
NM_138694.4(PKHD1):c.7912-5T>G
|
rs371510537
|
0.00075
|
|
NM_152743.4(BRAT1):c.2147C>T (p.Ala716Val)
|
rs140802292
|
0.00075
|
|
NM_183357.3(ADCY5):c.2818G>A (p.Glu940Lys)
|
rs113442895
|
0.00075
|
|
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met)
|
rs138803855
|
0.00075
|
|
NM_000130.5(F5):c.5431A>T (p.Met1811Leu)
|
rs138877178
|
0.00074
|
|
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr)
|
rs146269871
|
0.00074
|
|
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)
|
rs148783445
|
0.00074
|
|
NM_000540.3(RYR1):c.2545G>A (p.Asp849Asn)
|
rs200893443
|
0.00074
|
|
NM_000550.3(TYRP1):c.785C>T (p.Thr262Met)
|
rs61752939
|
0.00074
|
|
NM_000553.6(WRN):c.3059G>A (p.Arg1020His)
|
rs115298665
|
0.00074
|
|
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser)
|
rs150348015
|
0.00074
|
|
NM_001378609.3(OTOGL):c.1284T>A (p.Asp428Glu)
|
rs202061419
|
0.00074
|
|
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)
|
rs139306043
|
0.00074
|
|
NM_004562.3(PRKN):c.52G>A (p.Asp18Asn)
|
rs146288080
|
0.00074
|
|
NM_004928.3(CFAP410):c.763G>A (p.Ala255Thr)
|
rs141195315
|
0.00074
|
|
NM_006946.4(SPTBN2):c.1657C>T (p.Arg553Trp)
|
rs116099040
|
0.00074
|
|
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn)
|
rs181795958
|
0.00074
|
|
NM_018713.3(SLC30A10):c.1293C>A (p.His431Gln)
|
rs79106013
|
0.00074
|
|
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys)
|
rs147869493
|
0.00074
|
|
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)
|
rs202190568
|
0.00074
|
|
NM_033419.5(PGAP3):c.477G>C (p.Arg159Ser)
|
rs150483675
|
0.00074
|
|
NM_138694.4(PKHD1):c.5752-9G>A
|
rs184441390
|
0.00074
|
|
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu)
|
rs149531438
|
0.00074
|
|
NM_182643.3(DLC1):c.2213C>T (p.Thr738Met)
|
rs149472569
|
0.00074
|
|
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr)
|
rs114212275
|
0.00073
|
|
NM_000124.4(ERCC6):c.150G>A (p.Val50=)
|
rs80133923
|
0.00073
|
|
NM_000178.4(GSS):c.1158G>A (p.Leu386=)
|
rs141866304
|
0.00073
|
|
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr)
|
rs144777709
|
0.00073
|
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
|
NM_000285.4(PEPD):c.34G>A (p.Gly12Arg)
|
rs201992066
|
0.00073
|
|
NM_000301.5(PLG):c.2045T>A (p.Ile682Asn)
|
rs147175166
|
0.00073
|
|
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser)
|
rs143068960
|
0.00073
|
|
NM_000532.5(PCCB):c.429+7G>A
|
rs201986472
|
0.00073
|
|
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=)
|
rs200950362
|
0.00073
|
|
NM_001005242.3(PKP2):c.1171-10T>C
|
rs200122872
|
0.00073
|
|
NM_001083961.2(WDR62):c.303C>A (p.Asn101Lys)
|
rs139371621
|
0.00073
|
|
NM_001097577.3(ANG):c.208A>G (p.Ile70Val)
|
rs121909541
|
0.00073
|
|
NM_001128840.3(CACNA1D):c.5017G>A (p.Glu1673Lys)
|
rs147973409
|
0.00073
|
|
NM_001134665.3(TRMT10A):c.398G>A (p.Arg133Gln)
|
rs10007569
|
0.00073
|
|
NM_001277313.2(FMN1):c.2044-1493G>T
|
rs201555719
|
0.00073
|
|
NM_001365999.1(SZT2):c.6343C>G (p.Pro2115Ala)
|
rs147309177
|
0.00073
|
|
NM_001371986.1(UNC80):c.3350G>C (p.Ser1117Thr)
|
rs78499613
|
0.00073
|
|
NM_001384474.1(LOXHD1):c.4244G>A (p.Arg1415Gln)
|
rs374728484
|
0.00073
|
|
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=)
|
rs377734902
|
0.00073
|
|
NM_003119.4(SPG7):c.1324+10C>T
|
rs202070075
|
0.00073
|
|
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr)
|
rs2099104
|
0.00073
|
|
NM_004793.4(LONP1):c.1876G>A (p.Val626Met)
|
rs147307965
|
0.00073
|
|
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys)
|
rs113594027
|
0.00073
|
|
NM_006516.4(SLC2A1):c.894C>T (p.Phe298=)
|
rs140825318
|
0.00073
|
|
NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=)
|
rs372922535
|
0.00073
|
|
NM_016239.4(MYO15A):c.3196G>C (p.Ala1066Pro)
|
rs199537186
|
0.00073
|
|
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg)
|
rs148606857
|
0.00073
|
|
NM_018941.4(CLN8):c.513C>G (p.Pro171=)
|
rs376910635
|
0.00073
|
|
NM_020376.4(PNPLA2):c.964C>T (p.Leu322Phe)
|
rs137866968
|
0.00073
|
|
NM_020987.5(ANK3):c.7469C>T (p.Pro2490Leu)
|
rs140741466
|
0.00073
|
|
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys)
|
rs73265454
|
0.00073
|
|
NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn)
|
rs145288025
|
0.00073
|
|
NM_052945.4(TNFRSF13C):c.436C>T (p.Pro146Ser)
|
rs151243201
|
0.00073
|
|
NM_080424.4(SP110):c.1706+4A>T
|
rs201034113
|
0.00073
|
|
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu)
|
rs113342704
|
0.00073
|
|
NM_145199.3(LIPT1):c.452G>A (p.Arg151Lys)
|
rs150683925
|
0.00073
|
|
NM_145200.5(CABP4):c.547G>C (p.Gly183Arg)
|
rs146764702
|
0.00073
|
|
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys)
|
rs149478021
|
0.00073
|
|
NM_152783.5(D2HGDH):c.1140+8G>A
|
rs369135156
|
0.00073
|
|
NM_172250.3(MMAA):c.966A>G (p.Pro322=)
|
rs150692463
|
0.00073
|
|
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)
|
rs138687850
|
0.00072
|
|
NM_000718.4(CACNA1B):c.6724G>C (p.Asp2242His)
|
rs79400016
|
0.00072
|
|
NM_000844.4(GRM7):c.569G>A (p.Arg190Gln)
|
rs144324520
|
0.00072
|
|
NM_001004320.2(AGMO):c.1213C>T (p.Arg405Ter)
|
rs139309795
|
0.00072
|
|
NM_001061.7(TBXAS1):c.621T>A (p.Asp207Glu)
|
rs143125111
|
0.00072
|
|
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)
|
rs185596534
|
0.00072
|
|
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)
|
rs139631202
|
0.00072
|
|
NM_001164277.2(SLC37A4):c.785+6A>T
|
rs369358436
|
0.00072
|
|
NM_001177316.2(SLC34A3):c.1484G>C (p.Gly495Ala)
|
rs140869490
|
0.00072
|
|
NM_001369268.1(ACAN):c.2024G>A (p.Arg675Gln)
|
rs35102652
|
0.00072
|
|
NM_003238.6(TGFB2):c.303G>A (p.Lys101=)
|
rs147052890
|
0.00072
|
|
NM_003835.4(RGS9):c.1658T>C (p.Val553Ala)
|
rs201026246
|
0.00072
|
|
NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro)
|
rs146630369
|
0.00072
|
|
NM_004937.3(CTNS):c.695G>A (p.Arg232His)
|
rs142641674
|
0.00072
|
|
NM_006767.4(LZTR1):c.1990G>A (p.Ala664Thr)
|
rs140874089
|
0.00072
|
|
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=)
|
rs149185385
|
0.00072
|
|
NM_021942.6(TRAPPC11):c.282A>C (p.Pro94=)
|
rs148105529
|
0.00072
|
|
NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly)
|
rs150629342
|
0.00072
|
|
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)
|
rs139436386
|
0.00072
|
|
NM_000236.3(LIPC):c.1226A>C (p.Asp409Ala)
|
rs142036980
|
0.00071
|
|
NM_000282.4(PCCA):c.1896A>G (p.Thr632=)
|
rs61760965
|
0.00071
|
|
NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg)
|
rs142506651
|
0.00071
|
|
NM_001080449.3(DNA2):c.68C>T (p.Ala23Val)
|
rs200467869
|
0.00071
|
|
NM_001083961.2(WDR62):c.1769-7C>T
|
rs137919897
|
0.00071
|
|
NM_001089.3(ABCA3):c.2675G>A (p.Arg892His)
|
rs142687030
|
0.00071
|
|
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)
|
rs148541407
|
0.00071
|
|
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser)
|
rs199910006
|
0.00071
|
|
NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn)
|
rs111033261
|
0.00071
|
|
NM_001292063.2(OTOG):c.2249G>A (p.Arg750His)
|
rs112634925
|
0.00071
|
|
NM_001374385.1(ATP8B1):c.3725C>G (p.Thr1242Ser)
|
rs139012426
|
0.00071
|
|
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)
|
rs201144431
|
0.00071
|
|
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)
|
rs78102263
|
0.00071
|
|
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=)
|
rs77934864
|
0.00071
|
|
NM_002303.6(LEPR):c.2260G>A (p.Val754Met)
|
rs150936702
|
0.00071
|
|
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr)
|
rs183621659
|
0.00071
|
|
NM_005245.4(FAT1):c.7130C>T (p.Thr2377Met)
|
rs201363601
|
0.00071
|
|
NM_006060.6(IKZF1):c.157G>A (p.Val53Met)
|
rs369417059
|
0.00071
|
|
NM_006214.4(PHYH):c.568G>A (p.Val190Ile)
|
rs146190978
|
0.00071
|
|
NM_007199.3(IRAK3):c.1461del (p.Asn487fs)
|
rs776951445
|
0.00071
|
|
NM_007317.3(KIF22):c.1048C>T (p.Arg350Cys)
|
rs149860938
|
0.00071
|
|
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)
|
rs149638449
|
0.00071
|
|
NM_014633.5(CTR9):c.3211G>A (p.Gly1071Ser)
|
rs35766432
|
0.00071
|
|
NM_014639.4(SKIC3):c.1938C>T (p.Gly646=)
|
rs149655074
|
0.00071
|
|
NM_014908.4(DOLK):c.1314C>T (p.Leu438=)
|
rs148118523
|
0.00071
|
|
NM_018249.6(CDK5RAP2):c.5201A>G (p.Tyr1734Cys)
|
rs150994426
|
0.00071
|
|
NM_020247.5(COQ8A):c.1378A>G (p.Ser460Gly)
|
rs149364914
|
0.00071
|
|
NM_024513.4(FYCO1):c.1248G>A (p.Lys416=)
|
rs149643762
|
0.00071
|
|
NM_057176.3(BSND):c.715C>T (p.Gln239Ter)
|
rs147394986
|
0.00071
|
|
NM_153614.4(DNAJB13):c.439T>A (p.Ser147Thr)
|
rs148650935
|
0.00071
|
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
|
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu)
|
rs150645738
|
0.00070
|
|
NM_000153.4(GALC):c.-67T>G
|
rs571945132
|
0.00070
|
|
NM_000274.4(OAT):c.48C>T (p.Arg16=)
|
rs143526711
|
0.00070
|
|
NM_000817.3(GAD1):c.1611+5G>A
|
rs147201199
|
0.00070
|
|
NM_001083961.2(WDR62):c.922A>G (p.Ile308Val)
|
rs146229976
|
0.00070
|
|
NM_001114134.2(EPB42):c.10+60C>T
|
rs144428415
|
0.00070
|
|
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val)
|
rs149956015
|
0.00070
|
|
NM_001701.4(BAAT):c.685G>A (p.Val229Ile)
|
rs141722672
|
0.00070
|
|
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=)
|
rs143651470
|
0.00070
|
|
NM_002906.4(RDX):c.1468G>A (p.Asp490Asn)
|
rs34471100
|
0.00070
|
|
NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=)
|
rs148195895
|
0.00070
|
|
NM_006383.4(CIB2):c.523A>C (p.Lys175Gln)
|
rs200546031
|
0.00070
|
|
NM_012275.3(IL36RN):c.363G>A (p.Leu121=)
|
rs151274071
|
0.00070
|
|
NM_019066.5(MAGEL2):c.959C>A (p.Ala320Asp)
|
rs541606785
|
0.00070
|
|
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr)
|
rs144637286
|
0.00070
|
|
NM_022124.6(CDH23):c.5667C>T (p.Asn1889=)
|
rs375358318
|
0.00070
|
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
|
NM_024513.4(FYCO1):c.3903A>G (p.Thr1301=)
|
rs144525738
|
0.00070
|
|
NM_025074.7(FRAS1):c.1783G>A (p.Gly595Ser)
|
rs149843493
|
0.00070
|
|
NM_025103.4(IFT74):c.1623+7A>C
|
rs191860894
|
0.00070
|
|
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu)
|
rs34521483
|
0.00070
|
|
NM_032387.5(WNK4):c.2476G>A (p.Gly826Ser)
|
rs190384194
|
0.00070
|
|
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=)
|
rs141089495
|
0.00070
|
|
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile)
|
rs138968608
|
0.00070
|
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
|
NM_152564.5(VPS13B):c.11495+6A>G
|
rs116546060
|
0.00070
|
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
|
NM_152743.4(BRAT1):c.826G>A (p.Asp276Asn)
|
rs146546197
|
0.00070
|
|
NM_173560.4(RFX6):c.2553G>T (p.Gln851His)
|
rs145117989
|
0.00070
|
|
NM_182914.3(SYNE2):c.12293C>A (p.Ala4098Asp)
|
rs142169651
|
0.00070
|
|
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His)
|
rs147488907
|
0.00069
|
|
NM_000213.5(ITGB4):c.5243G>A (p.Arg1748His)
|
rs151053969
|
0.00069
|
|
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr)
|
rs148938083
|
0.00069
|
|
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)
|
rs111033193
|
0.00069
|
|
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)
|
rs140963147
|
0.00069
|
|
NM_001082971.2(DDC):c.715A>T (p.Met239Leu)
|
rs11575376
|
0.00069
|
|
NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp)
|
rs201442593
|
0.00069
|
|
NM_001164508.2(NEB):c.20128G>A (p.Val6710Ile)
|
rs199890298
|
0.00069
|
|
NM_001277115.2(DNAH11):c.11277C>G (p.Ile3759Met)
|
rs202148932
|
0.00069
|
|
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=)
|
rs191266255
|
0.00069
|
|
NM_001277115.2(DNAH11):c.9939G>A (p.Val3313=)
|
rs200349268
|
0.00069
|
|
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=)
|
rs75275592
|
0.00069
|
|
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His)
|
rs191381310
|
0.00069
|
|
NM_001852.4(COL9A2):c.1621G>A (p.Ala541Thr)
|
rs200325312
|
0.00069
|
|
NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr)
|
rs145685060
|
0.00069
|
|
NM_004320.6(ATP2A1):c.733G>A (p.Asp245Asn)
|
rs150721350
|
0.00069
|
|
NM_004525.3(LRP2):c.6938C>T (p.Pro2313Leu)
|
rs73035708
|
0.00069
|
|
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys)
|
rs146419641
|
0.00069
|
|
NM_006017.3(PROM1):c.1469G>A (p.Ser490Asn)
|
rs201027172
|
0.00069
|
|
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr)
|
rs149605021
|
0.00069
|
|
NM_012073.5(CCT5):c.166+8del
|
rs773556943
|
0.00069
|
|
NM_014339.7(IL17RA):c.1232C>T (p.Ala411Val)
|
rs151166583
|
0.00069
|
|
NM_020754.4(ARHGAP31):c.452G>A (p.Arg151Gln)
|
rs201519981
|
0.00069
|
|
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=)
|
rs142788731
|
0.00069
|
|
NM_025265.4(TSEN2):c.376C>T (p.Arg126Cys)
|
rs151133206
|
0.00069
|
|
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe)
|
rs141567438
|
0.00069
|
|
NM_032531.4(KIRREL3):c.396C>T (p.Ala132=)
|
rs35152573
|
0.00069
|
|
NM_145059.3(FCSK):c.1124C>G (p.Pro375Arg)
|
rs200044033
|
0.00069
|
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
|
NM_206933.4(USH2A):c.5265C>T (p.Phe1755=)
|
rs147371835
|
0.00069
|
|
NM_206937.2(LIG4):c.285G>A (p.Glu95=)
|
rs150146196
|
0.00069
|
|
NM_000410.4(HFE):c.1006+14A>G
|
rs201262562
|
0.00068
|
|
NM_000512.5(GALNS):c.858G>A (p.Thr286=)
|
rs140299014
|
0.00068
|
|
NM_000787.4(DBH):c.1215C>T (p.His405=)
|
rs144219953
|
0.00068
|
|
NM_001017995.3(SH3PXD2B):c.785+4C>G
|
rs369555721
|
0.00068
|
|
NM_001039876.3(SYNE4):c.243T>C (p.Ser81=)
|
rs149158221
|
0.00068
|
|
NM_001080449.3(DNA2):c.1796G>A (p.Arg599His)
|
rs201999986
|
0.00068
|
|
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
|
rs200324356
|
0.00068
|
|
NM_001243133.2(NLRP3):c.3048A>C (p.Leu1016Phe)
|
rs143548979
|
0.00068
|
|
NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln)
|
rs146140125
|
0.00068
|
|
NM_001378609.3(OTOGL):c.3742C>G (p.His1248Asp)
|
rs201328043
|
0.00068
|
|
NM_001845.6(COL4A1):c.2542C>G (p.Gln848Glu)
|
rs144207910
|
0.00068
|
|
NM_001987.5(ETV6):c.380G>A (p.Arg127Gln)
|
rs140357643
|
0.00068
|
|
NM_002292.4(LAMB2):c.3582C>T (p.Phe1194=)
|
rs138540017
|
0.00068
|
|
NM_005002.5(NDUFA9):c.722A>G (p.Tyr241Cys)
|
rs139012735
|
0.00068
|
|
NM_005199.5(CHRNG):c.663G>A (p.Ala221=)
|
rs150556220
|
0.00068
|
|
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile)
|
rs186946267
|
0.00068
|
|
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn)
|
rs150847674
|
0.00068
|
|
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=)
|
rs372175239
|
0.00068
|
|
NM_006059.4(LAMC3):c.3674T>C (p.Val1225Ala)
|
rs138481447
|
0.00068
|
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
0.00068
|
|
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val)
|
rs142768885
|
0.00068
|
|
NM_012073.5(CCT5):c.954C>T (p.Asn318=)
|
rs150870419
|
0.00068
|
|
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly)
|
rs202093691
|
0.00068
|
|
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)
|
rs116606479
|
0.00068
|
|
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln)
|
rs146332658
|
0.00068
|
|
NM_018960.6(GNMT):c.469C>T (p.Arg157Trp)
|
rs142613217
|
0.00068
|
|
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val)
|
rs144182725
|
0.00068
|
|
NM_020376.4(PNPLA2):c.369C>T (p.Asp123=)
|
rs142174851
|
0.00068
|
|
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)
|
rs376271562
|
0.00068
|
|
NM_031372.4(HNRNPDL):c.113T>C (p.Leu38Pro)
|
rs373042980
|
0.00068
|
|
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)
|
rs143205296
|
0.00068
|
|
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)
|
rs145208175
|
0.00068
|
|
NM_153006.3(NAGS):c.1302C>T (p.Pro434=)
|
rs150004962
|
0.00068
|
|
NM_153603.4(COG7):c.1455C>T (p.Phe485=)
|
rs116153163
|
0.00068
|
|
NM_153603.4(COG7):c.75C>G (p.Ser25=)
|
rs149481813
|
0.00068
|
|
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly)
|
rs147545395
|
0.00068
|
|
NM_000071.3(CBS):c.829-13G>A
|
rs201106576
|
0.00067
|
|
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr)
|
rs772521985
|
0.00067
|
|
NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn)
|
rs141340479
|
0.00067
|
|
NM_000478.6(ALPL):c.612C>T (p.Ile204=)
|
rs141448778
|
0.00067
|
|
NM_000553.6(WRN):c.1835C>G (p.Ser612Cys)
|
rs11574250
|
0.00067
|
|
NM_000687.4(AHCY):c.1008C>T (p.Ile336=)
|
rs139344907
|
0.00067
|
|
NM_000875.5(IGF1R):c.4009C>T (p.Arg1337Cys)
|
rs141802822
|
0.00067
|
|
NM_001038.6(SCNN1A):c.614G>A (p.Ser205Asn)
|
rs147866964
|
0.00067
|
|
NM_001080476.3(GRXCR1):c.785G>A (p.Arg262Gln)
|
rs146696590
|
0.00067
|
|
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
|
rs146868519
|
0.00067
|
|
NM_001142864.4(PIEZO1):c.1688C>T (p.Thr563Met)
|
rs192347853
|
0.00067
|
|
NM_001242957.3(MAK):c.975G>A (p.Pro325=)
|
rs145014649
|
0.00067
|
|
NM_001243279.3(ACSF3):c.823-4G>C
|
rs558325262
|
0.00067
|
|
NM_001270508.2(TNFAIP3):c.1634C>T (p.Ala545Val)
|
rs142752989
|
0.00067
|
|
NM_001330677.2(TBX15):c.1728A>G (p.Gln576=)
|
rs200564235
|
0.00067
|
|
NM_001457.4(FLNB):c.4307G>A (p.Arg1436Gln)
|
rs140018418
|
0.00067
|
|
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu)
|
rs142780305
|
0.00067
|
|
NM_004100.5(EYA4):c.866C>T (p.Thr289Met)
|
rs41286200
|
0.00067
|
|
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln)
|
rs148826890
|
0.00067
|
|
NM_014363.6(SACS):c.2234G>A (p.Arg745His)
|
rs143677534
|
0.00067
|
|
NM_015192.4(PLCB1):c.2841A>G (p.Glu947=)
|
rs35245209
|
0.00067
|
|
NM_024513.4(FYCO1):c.4151C>G (p.Ala1384Gly)
|
rs149783680
|
0.00067
|
|
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn)
|
rs201261159
|
0.00067
|
|
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=)
|
rs147205930
|
0.00067
|
|
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys)
|
rs200392821
|
0.00067
|
|
NM_144672.4(OTOA):c.236G>A (p.Arg79Gln)
|
rs147088274
|
0.00067
|
|
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)
|
rs148033154
|
0.00067
|
|
NM_000046.5(ARSB):c.1337-3T>A
|
rs183651028
|
0.00066
|
|
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala)
|
rs199807461
|
0.00066
|
|
NM_000154.2(GALK1):c.746C>T (p.Ala249Val)
|
rs149825190
|
0.00066
|
|
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)
|
rs104895192
|
0.00066
|
|
NM_000293.3(PHKB):c.1746A>G (p.Leu582=)
|
rs111970242
|
0.00066
|
|
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr)
|
rs45563942
|
0.00066
|
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
|
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr)
|
rs34505698
|
0.00066
|
|
NM_001083961.2(WDR62):c.3612C>T (p.Gly1204=)
|
rs139946168
|
0.00066
|
|
NM_001100.4(ACTA1):c.132C>T (p.Gly44=)
|
rs146956806
|
0.00066
|
|
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)
|
rs202238753
|
0.00066
|
|
NM_001291303.3(FAT4):c.7103C>A (p.Ala2368Glu)
|
rs116568645
|
0.00066
|
|
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)
|
rs142558799
|
0.00066
|
|
NM_001378778.1(MPDZ):c.3602C>G (p.Thr1201Ser)
|
rs184213204
|
0.00066
|
|
NM_001379500.1(COL18A1):c.1882G>A (p.Ala628Thr)
|
rs181012655
|
0.00066
|
|
NM_001457.4(FLNB):c.4233C>G (p.Phe1411Leu)
|
rs143831841
|
0.00066
|
|
NM_001698.3(AUH):c.598+10A>C
|
rs186203318
|
0.00066
|
|
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr)
|
rs151036570
|
0.00066
|
|
NM_002768.5(CHMP1A):c.198G>A (p.Ala66=)
|
rs201479143
|
0.00066
|
|
NM_002905.5(RDH5):c.753C>T (p.Arg251=)
|
rs141783438
|
0.00066
|
|
NM_003119.4(SPG7):c.199C>T (p.Leu67=)
|
rs148315471
|
0.00066
|
|
NM_003742.4(ABCB11):c.383G>A (p.Arg128His)
|
rs181533618
|
0.00066
|
|
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)
|
rs138437966
|
0.00066
|
|
NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu)
|
rs148081315
|
0.00066
|
|
NM_005529.7(HSPG2):c.6295G>A (p.Gly2099Ser)
|
rs113695182
|
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_005591.4(MRE11):c.120C>T (p.Leu40=)
|
rs1805364
|
0.00066
|
|
NM_006031.6(PCNT):c.7332C>T (p.Thr2444=)
|
rs150882711
|
0.00066
|
|
NM_014994.3(MAPKBP1):c.2519C>A (p.Ala840Glu)
|
rs147620917
|
0.00066
|
|
NM_015378.4(VPS13D):c.6303T>G (p.His2101Gln)
|
rs143933696
|
0.00066
|
|
NM_017547.4(FOXRED1):c.683G>A (p.Arg228Gln)
|
rs139851379
|
0.00066
|
|
NM_017909.4(RMND1):c.320T>A (p.Val107Glu)
|
rs199787718
|
0.00066
|
|
NM_018249.6(CDK5RAP2):c.55T>C (p.Cys19Arg)
|
rs143766657
|
0.00066
|
|
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe)
|
rs139926581
|
0.00066
|
|
NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys)
|
rs41273880
|
0.00066
|
|
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=)
|
rs139935771
|
0.00066
|
|
NM_024513.4(FYCO1):c.1887C>T (p.Val629=)
|
rs140372149
|
0.00066
|
|
NM_024513.4(FYCO1):c.3024T>A (p.Ser1008Arg)
|
rs146592828
|
0.00066
|
|
NM_025265.4(TSEN2):c.1332A>G (p.Lys444=)
|
rs113981920
|
0.00066
|
|
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val)
|
rs142981643
|
0.00066
|
|
NM_030787.4(CFHR5):c.1412G>A (p.Gly471Glu)
|
rs144438200
|
0.00066
|
|
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His)
|
rs201416399
|
0.00066
|
|
NM_032409.3(PINK1):c.1075G>A (p.Ala359Thr)
|
rs76753586
|
0.00066
|
|
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala)
|
rs115507225
|
0.00066
|
|
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)
|
rs145651593
|
0.00066
|
|
NM_144508.5(KNL1):c.251-9T>C
|
rs371294019
|
0.00066
|
|
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)
|
rs148195424
|
0.00066
|
|
NM_194279.4(ISCA2):c.83C>T (p.Ala28Val)
|
rs371830968
|
0.00066
|
|
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp)
|
rs145042327
|
0.00065
|
|
NM_000306.4(POU1F1):c.605-5T>G
|
rs201406891
|
0.00065
|
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
|
NM_001142864.4(PIEZO1):c.1495G>A (p.Val499Ile)
|
rs530486445
|
0.00065
|
|
NM_001148.6(ANK2):c.6206G>A (p.Arg2069His)
|
rs149645600
|
0.00065
|
|
NM_001256071.3(RNF213):c.14677G>C (p.Glu4893Gln)
|
rs143163385
|
0.00065
|
|
NM_001277313.2(FMN1):c.2044-2686C>T
|
rs202063843
|
0.00065
|
|
NM_001322934.2(NFKB2):c.1736G>A (p.Arg579His)
|
rs200227171
|
0.00065
|
|
NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg)
|
rs146000214
|
0.00065
|
|
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His)
|
rs146326769
|
0.00065
|
|
NM_001368882.1(COL13A1):c.1931T>C (p.Ile644Thr)
|
rs147220162
|
0.00065
|
|
NM_001369369.1(FOXN1):c.1657A>G (p.Ser553Gly)
|
rs137872361
|
0.00065
|
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
|
NM_001386298.1(CIC):c.5279C>T (p.Ala1760Val)
|
rs45596843
|
0.00065
|
|
NM_002491.3(NDUFB3):c.19C>T (p.His7Tyr)
|
rs144513268
|
0.00065
|
|
NM_003977.4(AIP):c.896C>T (p.Ala299Val)
|
rs148986773
|
0.00065
|
|
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)
|
rs35810986
|
0.00065
|
|
NM_005912.3(MC4R):c.335C>T (p.Thr112Met)
|
rs13447329
|
0.00065
|
|
NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly)
|
rs200545555
|
0.00065
|
|
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)
|
rs147692158
|
0.00065
|
|
NM_015192.4(PLCB1):c.1881G>A (p.Gln627=)
|
rs45492700
|
0.00065
|
|
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln)
|
rs200780796
|
0.00065
|
|
NM_015721.3(GEMIN4):c.2197C>T (p.Leu733=)
|
rs188821606
|
0.00065
|
|
NM_017909.4(RMND1):c.668C>T (p.Pro223Leu)
|
rs142521318
|
0.00065
|
|
NM_020533.3(MCOLN1):c.71C>A (p.Thr24Asn)
|
rs141168886
|
0.00065
|
|
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)
|
rs142106322
|
0.00065
|
|
NM_198834.3(ACACA):c.4057-5C>T
|
rs200301970
|
0.00065
|
|
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser)
|
rs139921272
|
0.00065
|
|
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly)
|
rs114116572
|
0.00065
|
|
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)
|
rs144383442
|
0.00064
|
|
NM_000208.4(INSR):c.2263C>T (p.Pro755Ser)
|
rs148838377
|
0.00064
|
|
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=)
|
rs147283849
|
0.00064
|
|
NM_000302.4(PLOD1):c.804C>T (p.Thr268=)
|
rs140758113
|
0.00064
|
|
NM_000642.3(AGL):c.334A>G (p.Ile112Val)
|
rs147024351
|
0.00064
|
|
NM_000875.5(IGF1R):c.1784G>A (p.Arg595His)
|
rs56248469
|
0.00064
|
|
NM_001077525.3(MTMR14):c.780T>A (p.Asp260Glu)
|
rs142525507
|
0.00064
|
|
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln)
|
rs200963111
|
0.00064
|
|
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=)
|
rs138837774
|
0.00064
|
|
NM_001183.6(ATP6AP1):c.43C>T (p.Arg15Trp)
|
rs201620814
|
0.00064
|
|
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr)
|
rs199784139
|
0.00064
|
|
NM_001368882.1(COL13A1):c.630+2T>C
|
rs546473709
|
0.00064
|
|
NM_001372051.1(CASP8):c.892A>G (p.Ile298Val)
|
rs146286958
|
0.00064
|
|
NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser)
|
rs76714828
|
0.00064
|
|
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)
|
rs150669855
|
0.00064
|
|
NM_004826.4(ECEL1):c.2229-7A>C
|
rs368488157
|
0.00064
|
|
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser)
|
rs201503021
|
0.00064
|
|
NM_006662.3(SRCAP):c.2573G>A (p.Arg858His)
|
rs35892240
|
0.00064
|
|
NM_006922.4(SCN3A):c.44G>A (p.Arg15His)
|
rs139769668
|
0.00064
|
|
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp)
|
rs142982022
|
0.00064
|
|
NM_012418.4(FSCN2):c.1274-3C>T
|
rs201054437
|
0.00064
|
|
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)
|
rs141033098
|
0.00064
|
|
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala)
|
rs149887215
|
0.00064
|
|
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp)
|
rs200038418
|
0.00064
|
|
NM_017763.6(RNF43):c.970C>A (p.Gln324Lys)
|
rs111856468
|
0.00064
|
|
NM_018714.3(COG1):c.1282-3T>C
|
rs188853520
|
0.00064
|
|
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly)
|
rs143990563
|
0.00064
|
|
NM_025000.4(DCAF17):c.792T>C (p.Thr264=)
|
rs199742600
|
0.00064
|
|
NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser)
|
rs144918959
|
0.00064
|
|
NM_032119.4(ADGRV1):c.2740T>C (p.Tyr914His)
|
rs189967386
|
0.00064
|
|
NM_139242.4(MTFMT):c.35C>T (p.Pro12Leu)
|
rs774208069
|
0.00064
|
|
NM_153676.4(USH1C):c.669C>A (p.Gly223=)
|
rs144761543
|
0.00064
|
|
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln)
|
rs117647282
|
0.00064
|
|
NM_182943.3(PLOD2):c.844T>C (p.Cys282Arg)
|
rs138948307
|
0.00064
|
|
NM_000054.7(AVPR2):c.913G>A (p.Ala305Thr)
|
rs145953185
|
0.00063
|
|
NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp)
|
rs147079519
|
0.00063
|
|
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp)
|
rs199575418
|
0.00063
|
|
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp)
|
rs148046938
|
0.00063
|
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
|
NM_001039876.3(SYNE4):c.756G>A (p.Ala252=)
|
rs137899688
|
0.00063
|
|
NM_001089.3(ABCA3):c.2614A>G (p.Ser872Gly)
|
rs151078160
|
0.00063
|
|
NM_001122659.3(EDNRB):c.227G>T (p.Arg76Met)
|
rs2228271
|
0.00063
|
|
NM_001206979.2(NR1H4):c.18T>C (p.Asn6=)
|
rs140648896
|
0.00063
|
|
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)
|
rs144291418
|
0.00063
|
|
NM_001355436.2(SPTB):c.5855T>C (p.Ile1952Thr)
|
rs138039383
|
0.00063
|
|
NM_001793.6(CDH3):c.1785C>T (p.Val595=)
|
rs376302917
|
0.00063
|
|
NM_002206.3(ITGA7):c.340A>G (p.Met114Val)
|
rs146565340
|
0.00063
|
|
NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu)
|
rs145792427
|
0.00063
|
|
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly)
|
rs189762594
|
0.00063
|
|
NM_004525.3(LRP2):c.7747G>A (p.Val2583Met)
|
rs145201961
|
0.00063
|
|
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp)
|
rs199538589
|
0.00063
|
|
NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg)
|
rs145048530
|
0.00063
|
|
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp)
|
rs55916864
|
0.00063
|
|
NM_006059.4(LAMC3):c.2987G>A (p.Arg996His)
|
rs113785045
|
0.00063
|
|
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly)
|
rs141619382
|
0.00063
|
|
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp)
|
rs35891605
|
0.00063
|
|
NM_006892.4(DNMT3B):c.433-13C>T
|
rs182618840
|
0.00063
|
|
NM_012144.4(DNAI1):c.1173C>G (p.Ile391Met)
|
rs151097256
|
0.00063
|
|
NM_014140.4(SMARCAL1):c.863-9C>G
|
rs188833040
|
0.00063
|
|
NM_014208.3(DSPP):c.1073G>A (p.Arg358Lys)
|
rs201110163
|
0.00063
|
|
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)
|
rs121908517
|
0.00063
|
|
NM_016734.3(PAX5):c.638C>T (p.Ser213Leu)
|
rs137870876
|
0.00063
|
|
NM_017534.6(MYH2):c.3884G>A (p.Arg1295His)
|
rs143341678
|
0.00063
|
|
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr)
|
rs184758350
|
0.00063
|
|
NM_017668.3(NDE1):c.386+9G>A
|
rs147174812
|
0.00063
|
|
NM_019066.5(MAGEL2):c.919C>T (p.Pro307Ser)
|
rs555920534
|
0.00063
|
|
NM_020066.5(FMN2):c.4068T>C (p.Val1356=)
|
rs141335669
|
0.00063
|
|
NM_022124.6(CDH23):c.1185C>T (p.Ser395=)
|
rs185105210
|
0.00063
|
|
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)
|
rs146801512
|
0.00063
|
|
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)
|
rs146451037
|
0.00063
|
|
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg)
|
rs146320075
|
0.00063
|
|
NM_025074.7(FRAS1):c.969G>A (p.Val323=)
|
rs377333036
|
0.00063
|
|
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)
|
rs74315448
|
0.00063
|
|
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met)
|
rs138495222
|
0.00063
|
|
NM_000053.4(ATP7B):c.1543+13C>T
|
rs200171850
|
0.00062
|
|
NM_000130.5(F5):c.3211C>T (p.His1071Tyr)
|
rs146408488
|
0.00062
|
|
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)
|
rs180984980
|
0.00062
|
|
NM_000218.3(KCNQ1):c.1799C>T (p.Thr600Met)
|
rs34516117
|
0.00062
|
|
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)
|
rs139544114
|
0.00062
|
|
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser)
|
rs138184115
|
0.00062
|
|
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)
|
rs61755813
|
0.00062
|
|
NM_000392.5(ABCC2):c.4071G>C (p.Gln1357His)
|
rs148393425
|
0.00062
|
|
NM_000521.4(HEXB):c.1417+11C>T
|
rs146572414
|
0.00062
|
|
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=)
|
rs374403946
|
0.00062
|
|
NM_001173467.3(SP7):c.1272G>A (p.Glu424=)
|
rs182820275
|
0.00062
|
|
NM_001199397.3(NEK1):c.686A>G (p.Tyr229Cys)
|
rs61737748
|
0.00062
|
|
NM_001252024.2(TRPM1):c.507C>T (p.His169=)
|
rs201157794
|
0.00062
|
|
NM_002691.4(POLD1):c.455C>T (p.Ala152Val)
|
rs41563714
|
0.00062
|
|
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)
|
rs150233690
|
0.00062
|
|
NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu)
|
rs142289138
|
0.00062
|
|
NM_005228.5(EGFR):c.3467A>C (p.His1156Pro)
|
rs149174093
|
0.00062
|
|
NM_005529.7(HSPG2):c.732A>G (p.Thr244=)
|
rs139842104
|
0.00062
|
|
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met)
|
rs201177183
|
0.00062
|
|
NM_017763.6(RNF43):c.1592G>A (p.Arg531His)
|
rs148619997
|
0.00062
|
|
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met)
|
rs201032343
|
0.00062
|
|
NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser)
|
rs146042595
|
0.00062
|
|
NM_031220.4(PITPNM3):c.2355G>A (p.Pro785=)
|
rs146899730
|
0.00062
|
|
NM_031372.4(HNRNPDL):c.110A>C (p.Gln37Pro)
|
rs911762606
|
0.00062
|
|
NM_032730.5(RTN4IP1):c.335G>A (p.Gly112Glu)
|
rs143924605
|
0.00062
|
|
NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln)
|
rs151317163
|
0.00062
|
|
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)
|
rs35501596
|
0.00061
|
|
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe)
|
rs111391222
|
0.00061
|
|
NM_000091.5(COL4A3):c.2020+18A>C
|
rs374992426
|
0.00061
|
|
NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu)
|
rs143221297
|
0.00061
|
|
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp)
|
rs148095899
|
0.00061
|
|
NM_000130.5(F5):c.5589C>A (p.Pro1863=)
|
rs148772659
|
0.00061
|
|
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)
|
rs36210422
|
0.00061
|
|
NM_000283.4(PDE6B):c.2193+15C>T
|
rs376883350
|
0.00061
|
|
NM_000419.5(ITGA2B):c.799+15C>T
|
rs374469971
|
0.00061
|
|
NM_000540.3(RYR1):c.9555-7C>G
|
rs376790946
|
0.00061
|
|
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala)
|
rs151335249
|
0.00061
|
|
NM_000875.5(IGF1R):c.2121C>T (p.Ala707=)
|
rs34129005
|
0.00061
|
|
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)
|
rs202015519
|
0.00061
|
|
NM_001126121.2(SLC25A19):c.842T>G (p.Phe281Cys)
|
rs138376525
|
0.00061
|
|
NM_001164508.2(NEB):c.18431A>G (p.His6144Arg)
|
rs34504204
|
0.00061
|
|
NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=)
|
rs138023728
|
0.00061
|
|
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)
|
rs139833874
|
0.00061
|
|
NM_001254.4(CDC6):c.640C>T (p.Arg214Trp)
|
rs147186134
|
0.00061
|
|
NM_001291303.3(FAT4):c.5792A>G (p.Tyr1931Cys)
|
rs139716832
|
0.00061
|
|
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp)
|
rs764159927
|
0.00061
|
|
NM_001292063.2(OTOG):c.6521A>G (p.Asn2174Ser)
|
rs368261417
|
0.00061
|
|
NM_001292063.2(OTOG):c.7324C>G (p.Leu2442Val)
|
rs573071858
|
0.00061
|
|
NM_001330078.2(NRXN1):c.-995T>C
|
rs200865985
|
0.00061
|
|
NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=)
|
rs149640638
|
0.00061
|
|
NM_001367624.2(ZNF469):c.8860T>C (p.Trp2954Arg)
|
rs557063759
|
0.00061
|
|
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn)
|
rs529225111
|
0.00061
|
|
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)
|
rs34995577
|
0.00061
|
|
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg)
|
rs201635205
|
0.00061
|
|
NM_001844.5(COL2A1):c.398C>A (p.Pro133His)
|
rs201234519
|
0.00061
|
|
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln)
|
rs143848379
|
0.00061
|
|
NM_001943.5(DSG2):c.852T>C (p.Asn284=)
|
rs62095193
|
0.00061
|
|
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=)
|
rs151251039
|
0.00061
|
|
NM_002474.3(MYH11):c.2049C>T (p.His683=)
|
rs150924100
|
0.00061
|
|
NM_002529.4(NTRK1):c.602C>A (p.Pro201His)
|
rs146201511
|
0.00061
|
|
NM_002691.4(POLD1):c.581C>G (p.Ser194Cys)
|
rs144656348
|
0.00061
|
|
NM_002900.3(RBP3):c.126G>A (p.Pro42=)
|
rs146175391
|
0.00061
|
|
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile)
|
rs11568513
|
0.00061
|
|
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)
|
rs140769107
|
0.00061
|
|
NM_005378.6(MYCN):c.8G>C (p.Ser3Thr)
|
rs373683425
|
0.00061
|
|
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser)
|
rs146175803
|
0.00061
|
|
NM_005502.4(ABCA1):c.3544G>A (p.Ala1182Thr)
|
rs143180998
|
0.00061
|
|
NM_005883.3(APC2):c.4557G>A (p.Pro1519=)
|
rs111280997
|
0.00061
|
|
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His)
|
rs142176861
|
0.00061
|
|
NM_006767.4(LZTR1):c.1723G>A (p.Asp575Asn)
|
rs139368531
|
0.00061
|
|
NM_013435.3(RAX):c.24A>G (p.Pro8=)
|
rs771409497
|
0.00061
|
|
NM_014026.6(DCPS):c.87G>T (p.Glu29Asp)
|
rs147935593
|
0.00061
|
|
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser)
|
rs141874052
|
0.00061
|
|
NM_014165.4(NDUFAF4):c.197A>G (p.Lys66Arg)
|
rs148667964
|
0.00061
|
|
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=)
|
rs141348218
|
0.00061
|
|
NM_014780.5(CUL7):c.2163T>C (p.Asp721=)
|
rs145572983
|
0.00061
|
|
NM_015627.3(LDLRAP1):c.284G>A (p.Arg95Gln)
|
rs139877665
|
0.00061
|
|
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro)
|
rs143819820
|
0.00061
|
|
NM_020435.4(GJC2):c.556G>T (p.Gly186Cys)
|
rs201277546
|
0.00061
|
|
NM_022124.6(CDH23):c.9198+13C>T
|
rs375384238
|
0.00061
|
|
NM_024422.6(DSC2):c.2498G>A (p.Arg833His)
|
rs370325533
|
0.00061
|
|
NM_057176.3(BSND):c.851G>A (p.Gly284Asp)
|
rs150426464
|
0.00061
|
|
NM_080473.5(GATA5):c.424T>C (p.Tyr142His)
|
rs111554140
|
0.00061
|
|
NM_080916.3(DGUOK):c.708-3T>C
|
rs370071744
|
0.00061
|
|
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)
|
rs185678374
|
0.00061
|
|
NM_138691.3(TMC1):c.141T>A (p.Asp47Glu)
|
rs140388347
|
0.00061
|
|
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln)
|
rs142896856
|
0.00061
|
|
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)
|
rs141622697
|
0.00061
|
|
NM_173630.4(RTTN):c.2568T>A (p.Ala856=)
|
rs370998068
|
0.00061
|
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
|
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys)
|
rs138087806
|
0.00061
|
|
NM_213655.5(WNK1):c.2360G>A (p.Arg787Gln)
|
rs550716144
|
0.00061
|
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
|
NM_000817.3(GAD1):c.1002+4T>G
|
rs139531653
|
0.00060
|
|
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser)
|
rs140852019
|
0.00060
|
|
NM_001040716.2(PC):c.496G>A (p.Val166Ile)
|
rs147697454
|
0.00060
|
|
NM_001109809.5(ZFP57):c.113G>A (p.Arg38Gln)
|
rs142917604
|
0.00060
|
|
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg)
|
rs202039332
|
0.00060
|
|
NM_001363711.2(DUOX2):c.2793T>C (p.His931=)
|
rs138306055
|
0.00060
|
|
NM_001363711.2(DUOX2):c.2794G>A (p.Asp932Asn)
|
rs147047438
|
0.00060
|
|
NM_001363711.2(DUOX2):c.2796C>T (p.Asp932=)
|
rs141644475
|
0.00060
|
|
NM_001369268.1(ACAN):c.1448G>A (p.Arg483His)
|
rs200950723
|
0.00060
|
|
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=)
|
rs139114389
|
0.00060
|
|
NM_003737.4(DCHS1):c.7192G>T (p.Val2398Phe)
|
rs145939548
|
0.00060
|
|
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)
|
rs143326964
|
0.00060
|
|
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met)
|
rs111759871
|
0.00060
|
|
NM_005876.5(SPEG):c.182G>A (p.Arg61Gln)
|
rs752331636
|
0.00060
|
|
NM_006059.4(LAMC3):c.3319G>A (p.Gly1107Arg)
|
rs144118534
|
0.00060
|
|
NM_012301.4(MAGI2):c.3706+5G>A
|
rs188293910
|
0.00060
|
|
NM_014339.7(IL17RA):c.978G>A (p.Thr326=)
|
rs143239201
|
0.00060
|
|
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)
|
rs147013767
|
0.00060
|
|
NM_014855.3(AP5Z1):c.1584C>T (p.Gly528=)
|
rs377310579
|
0.00060
|
|
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=)
|
rs572271008
|
0.00060
|
|
NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln)
|
rs141317462
|
0.00060
|
|
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)
|
rs200115167
|
0.00060
|
|
NM_153603.4(COG7):c.2052G>A (p.Ser684=)
|
rs142744907
|
0.00060
|
|
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr)
|
rs35602796
|
0.00060
|
|
NM_000222.3(KIT):c.1195G>A (p.Val399Ile)
|
rs143707288
|
0.00059
|
|
NM_000260.4(MYO7A):c.4916C>T (p.Thr1639Met)
|
rs200848641
|
0.00059
|
|
NM_000350.3(ABCA4):c.4352+13G>A
|
rs61754048
|
0.00059
|
|
NM_000392.5(ABCC2):c.3561G>A (p.Glu1187=)
|
rs17216324
|
0.00059
|
|
NM_001142864.4(PIEZO1):c.6205G>A (p.Val2069Met)
|
rs199752762
|
0.00059
|
|
NM_001286577.2(C2CD3):c.5404T>C (p.Tyr1802His)
|
rs141407711
|
0.00059
|
|
NM_001319074.4(RAX2):c.156G>A (p.Pro52=)
|
rs141804618
|
0.00059
|
|
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)
|
rs147499872
|
0.00059
|
|
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)
|
rs146505280
|
0.00059
|
|
NM_001966.4(EHHADH):c.1006G>A (p.Ala336Thr)
|
rs146431168
|
0.00059
|
|
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)
|
rs146989944
|
0.00059
|
|
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=)
|
rs150705788
|
0.00059
|
|
NM_003235.5(TG):c.455G>A (p.Arg152His)
|
rs114781869
|
0.00059
|
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
|
NM_004525.3(LRP2):c.4928G>A (p.Arg1643Gln)
|
rs147688332
|
0.00059
|
|
NM_005908.4(MANBA):c.531T>C (p.His177=)
|
rs149902075
|
0.00059
|
|
NM_006031.6(PCNT):c.6151-9C>T
|
rs200571944
|
0.00059
|
|
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr)
|
rs146501326
|
0.00059
|
|
NM_016653.3(MAP3K20):c.1346G>A (p.Gly449Glu)
|
rs201693932
|
0.00059
|
|
NM_018136.5(ASPM):c.9272G>A (p.Arg3091His)
|
rs147005963
|
0.00059
|
|
NM_020745.4(AARS2):c.1195A>C (p.Asn399His)
|
rs148363748
|
0.00059
|
|
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser)
|
rs141268133
|
0.00059
|
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998
|
0.00059
|
|
NM_000081.4(LYST):c.2363+10dup
|
rs760632806
|
0.00058
|
|
NM_000260.4(MYO7A):c.4667C>T (p.Pro1556Leu)
|
rs150654627
|
0.00058
|
|
NM_000373.4(UMPS):c.126C>A (p.Gly42=)
|
rs143828400
|
0.00058
|
|
NM_000497.4(CYP11B1):c.50C>T (p.Ser17Phe)
|
rs142591816
|
0.00058
|
|
NM_000512.5(GALNS):c.1242+3A>G
|
rs377067312
|
0.00058
|
|
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)
|
rs34390345
|
0.00058
|
|
NM_000817.3(GAD1):c.399T>C (p.Asp133=)
|
rs112737041
|
0.00058
|
|
NM_001002755.4(NFU1):c.167-13T>G
|
rs181762580
|
0.00058
|
|
NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu)
|
rs143614333
|
0.00058
|
|
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val)
|
rs145734811
|
0.00058
|
|
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=)
|
rs200793989
|
0.00058
|
|
NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr)
|
rs142702703
|
0.00058
|
|
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)
|
rs199422322
|
0.00058
|
|
NM_001142864.4(PIEZO1):c.4766C>T (p.Thr1589Ile)
|
rs534283978
|
0.00058
|
|
NM_001164508.2(NEB):c.20835G>A (p.Pro6945=)
|
rs186244044
|
0.00058
|
|
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys)
|
rs145300090
|
0.00058
|
|
NM_001363118.2(SLC52A2):c.535G>A (p.Gly179Ser)
|
rs151081625
|
0.00058
|
|
NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu)
|
rs771000169
|
0.00058
|
|
NM_001369.3(DNAH5):c.12878G>A (p.Ser4293Asn)
|
rs140279971
|
0.00058
|
|
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys)
|
rs145400611
|
0.00058
|
|
NM_001382347.1(MYO5A):c.4432C>T (p.Pro1478Ser)
|
rs147898420
|
0.00058
|
|
NM_001395413.1(POR):c.1806+12G>A
|
rs371432868
|
0.00058
|
|
NM_001481.3(GAS8):c.841G>C (p.Asp281His)
|
rs139167960
|
0.00058
|
|
NM_001558.4(IL10RA):c.320G>A (p.Arg107Gln)
|
rs145949718
|
0.00058
|
|
NM_001609.4(ACADSB):c.1228+8G>C
|
rs202191462
|
0.00058
|
|
NM_001875.5(CPS1):c.2025C>T (p.Ala675=)
|
rs143913650
|
0.00058
|
|
NM_002617.4(PEX10):c.896C>T (p.Ala299Val)
|
rs78620392
|
0.00058
|
|
NM_003480.4(MFAP5):c.12G>A (p.Leu4=)
|
rs148879406
|
0.00058
|
|
NM_003705.5(SLC25A12):c.2015del (p.Ala672fs)
|
rs780650245
|
0.00058
|
|
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)
|
rs372480044
|
0.00058
|
|
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys)
|
rs149127230
|
0.00058
|
|
NM_005068.3(SIM1):c.2119G>C (p.Asp707His)
|
rs74726213
|
0.00058
|
|
NM_005220.3(DLX3):c.82G>T (p.Asp28Tyr)
|
rs147702169
|
0.00058
|
|
NM_005989.4(AKR1D1):c.49A>G (p.Ser17Gly)
|
rs143960528
|
0.00058
|
|
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=)
|
rs139383288
|
0.00058
|
|
NM_012338.4(TSPAN12):c.181C>T (p.Pro61Ser)
|
rs145449060
|
0.00058
|
|
NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=)
|
rs149631064
|
0.00058
|
|
NM_013266.4(CTNNA3):c.1900G>A (p.Glu634Lys)
|
rs77165728
|
0.00058
|
|
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val)
|
rs200930743
|
0.00058
|
|
NM_018979.4(WNK1):c.578C>A (p.Pro193Gln)
|
rs72647372
|
0.00058
|
|
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)
|
rs148616219
|
0.00058
|
|
NM_020247.5(COQ8A):c.67G>A (p.Val23Met)
|
rs35582308
|
0.00058
|
|
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln)
|
rs147596628
|
0.00058
|
|
NM_052859.4(RFT1):c.47C>G (p.Ser16Cys)
|
rs148716754
|
0.00058
|
|
NM_173477.5(USH1G):c.1340G>A (p.Arg447Gln)
|
rs201359669
|
0.00058
|
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
|
NM_000037.4(ANK1):c.1483A>C (p.Asn495His)
|
rs143839208
|
0.00057
|
|
NM_000048.4(ASL):c.399G>A (p.Ser133=)
|
rs141584041
|
0.00057
|
|
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)
|
rs144797861
|
0.00057
|
|
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=)
|
rs55978207
|
0.00057
|
|
NM_000141.5(FGFR2):c.759T>G (p.Pro253=)
|
rs3135755
|
0.00057
|
|
NM_000155.4(GALT):c.687+9G>C
|
rs117998880
|
0.00057
|
|
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)
|
rs149425237
|
0.00057
|
|
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser)
|
rs1800578
|
0.00057
|
|
NM_000392.5(ABCC2):c.3521G>A (p.Arg1174His)
|
rs139188247
|
0.00057
|
|
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)
|
rs113058779
|
0.00057
|
|
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)
|
rs138704724
|
0.00057
|
|
NM_000787.4(DBH):c.165G>A (p.Pro55=)
|
rs139591190
|
0.00057
|
|
NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile)
|
rs138398760
|
0.00057
|
|
NM_001040716.2(PC):c.3107G>A (p.Arg1036His)
|
rs141237842
|
0.00057
|
|
NM_001289104.2(PRKCSH):c.454C>T (p.Arg152Trp)
|
rs151207349
|
0.00057
|
|
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)
|
rs201252809
|
0.00057
|
|
NM_002474.3(MYH11):c.12G>A (p.Lys4=)
|
rs112650390
|
0.00057
|
|
NM_002972.4(SBF1):c.5197C>T (p.Arg1733Cys)
|
rs199972466
|
0.00057
|
|
NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr)
|
rs142833529
|
0.00057
|
|
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile)
|
rs140220538
|
0.00057
|
|
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys)
|
rs71524353
|
0.00057
|
|
NM_017827.4(SARS2):c.352C>T (p.Arg118Trp)
|
rs147412052
|
0.00057
|
|
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg)
|
rs146688972
|
0.00057
|
|
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)
|
rs78211353
|
0.00057
|
|
NM_020376.4(PNPLA2):c.399C>T (p.Asn133=)
|
rs143992505
|
0.00057
|
|
NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser)
|
rs375308440
|
0.00057
|
|
NM_022124.6(CDH23):c.3927G>A (p.Glu1309=)
|
rs115398922
|
0.00057
|
|
NM_025000.4(DCAF17):c.1030T>C (p.Trp344Arg)
|
rs78488864
|
0.00057
|
|
NM_032793.5(MFSD2A):c.942C>T (p.Asn314=)
|
rs147123833
|
0.00057
|
|
NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys)
|
rs146574121
|
0.00057
|
|
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile)
|
rs200606803
|
0.00057
|
|
NM_080473.5(GATA5):c.287C>G (p.Ala96Gly)
|
rs113823160
|
0.00057
|
|
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)
|
rs150838488
|
0.00057
|
|
NM_173076.3(ABCA12):c.3949A>G (p.Met1317Val)
|
rs145178648
|
0.00057
|
|
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His)
|
rs184280124
|
0.00057
|
|
NM_206933.4(USH2A):c.6989A>G (p.Glu2330Gly)
|
rs138992047
|
0.00057
|
|
NM_000017.4(ACADS):c.669G>A (p.Thr223=)
|
rs17848089
|
0.00056
|
|
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)
|
rs35130237
|
0.00056
|
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
|
NM_000135.4(FANCA):c.3514-13G>A
|
rs200270574
|
0.00056
|
|
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074
|
0.00056
|
|
NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val)
|
rs149481974
|
0.00056
|
|
NM_000215.4(JAK3):c.2152G>C (p.Val718Leu)
|
rs146837396
|
0.00056
|
|
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
|
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)
|
rs530062090
|
0.00056
|
|
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp)
|
rs201217064
|
0.00056
|
|
NM_000327.4(ROM1):c.940G>A (p.Gly314Arg)
|
rs141919268
|
0.00056
|
|
NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=)
|
rs142141929
|
0.00056
|
|
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln)
|
rs61743653
|
0.00056
|
|
NM_000360.4(TH):c.1398C>T (p.Ile466=)
|
rs118175546
|
0.00056
|
|
NM_000410.4(HFE):c.884T>C (p.Val295Ala)
|
rs143175221
|
0.00056
|
|
NM_000492.4(CFTR):c.*2G>A
|
rs150914702
|
0.00056
|
|
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)
|
rs368834616
|
0.00056
|
|
NM_001012339.3(DNAJC21):c.370G>C (p.Glu124Gln)
|
rs139629564
|
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_001363711.2(DUOX2):c.2906G>A (p.Arg969Gln)
|
rs146664125
|
0.00056
|
|
NM_001379180.1(ESRRB):c.*1535G>A
|
rs200237229
|
0.00056
|
|
NM_001457.4(FLNB):c.4040A>G (p.Asn1347Ser)
|
rs146093652
|
0.00056
|
|
NM_001844.5(COL2A1):c.195C>T (p.Asp65=)
|
rs202210896
|
0.00056
|
|
NM_002474.3(MYH11):c.429G>A (p.Lys143=)
|
rs200672270
|
0.00056
|
|
NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr)
|
rs149730454
|
0.00056
|
|
NM_003108.4(SOX11):c.709C>G (p.Leu237Val)
|
rs140772793
|
0.00056
|
|
NM_003193.5(TBCE):c.833+8G>T
|
rs372236046
|
0.00056
|
|
NM_003482.4(KMT2D):c.11886A>G (p.Gln3962=)
|
rs180784366
|
0.00056
|
|
NM_004171.4(SLC1A2):c.16G>A (p.Gly6Ser)
|
rs145827578
|
0.00056
|
|
NM_004706.4(ARHGEF1):c.-17C>T
|
rs545895111
|
0.00056
|
|
NM_004946.3(DOCK2):c.2939T>C (p.Ile980Thr)
|
rs148694888
|
0.00056
|
|
NM_005448.2(BMP15):c.202C>T (p.Arg68Trp)
|
rs104894763
|
0.00056
|
|
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr)
|
rs143109401
|
0.00056
|
|
NM_005787.6(ALG3):c.222C>T (p.Tyr74=)
|
rs200875721
|
0.00056
|
|
NM_006348.5(COG5):c.1211A>G (p.Gln404Arg)
|
rs189560910
|
0.00056
|
|
NM_006371.5(CRTAP):c.655G>A (p.Gly219Ser)
|
rs145048208
|
0.00056
|
|
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu)
|
rs147766428
|
0.00056
|
|
NM_018055.5(NODAL):c.972G>A (p.Leu324=)
|
rs143903715
|
0.00056
|
|
NM_018082.6(POLR3B):c.2818-14T>C
|
rs370333143
|
0.00056
|
|
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly)
|
rs142901223
|
0.00056
|
|
NM_018139.3(DNAAF2):c.263G>A (p.Cys88Tyr)
|
rs549457480
|
0.00056
|
|
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)
|
rs149017703
|
0.00056
|
|
NM_020549.5(CHAT):c.1174G>A (p.Ala392Thr)
|
rs115877658
|
0.00056
|
|
NM_024422.6(DSC2):c.270G>A (p.Glu90=)
|
rs138643506
|
0.00056
|
|
NM_024876.4(COQ8B):c.1297-6T>G
|
rs199934542
|
0.00056
|
|
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)
|
rs201963060
|
0.00056
|
|
NM_052813.5(CARD9):c.960G>A (p.Glu320=)
|
rs148158774
|
0.00056
|
|
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)
|
rs147612089
|
0.00056
|
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
|
NM_198129.4(LAMA3):c.9241C>T (p.Arg3081Cys)
|
rs35762515
|
0.00056
|
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00056
|
|
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)
|
rs139002130
|
0.00055
|
|
NM_000452.3(SLC10A2):c.175C>T (p.Leu59=)
|
rs150970825
|
0.00055
|
|
NM_000506.5(F2):c.1464G>A (p.Thr488=)
|
rs146742525
|
0.00055
|
|
NM_000843.4(GRM6):c.1571C>T (p.Pro524Leu)
|
rs143491269
|
0.00055
|
|
NM_001036.6(RYR3):c.7249A>G (p.Ile2417Val)
|
rs200294137
|
0.00055
|
|
NM_001041.4(SI):c.2888G>A (p.Arg963Lys)
|
rs148434280
|
0.00055
|
|
NM_001042545.2(LTBP4):c.4034C>G (p.Pro1345Arg)
|
rs199678003
|
0.00055
|
|
NM_001205293.3(CACNA1E):c.6470G>A (p.Arg2157Gln)
|
rs2480373
|
0.00055
|
|
NM_001256071.3(RNF213):c.13592C>T (p.Pro4531Leu)
|
rs143904490
|
0.00055
|
|
NM_001291303.3(FAT4):c.13555G>A (p.Ala4519Thr)
|
rs202148971
|
0.00055
|
|
NM_001297.5(CNGB1):c.2370-9C>T
|
rs374373659
|
0.00055
|
|
NM_001304438.2(TMEM132E):c.2655A>C (p.Thr885=)
|
rs146702736
|
0.00055
|
|
NM_001374385.1(ATP8B1):c.114T>G (p.Ser38=)
|
rs141463153
|
0.00055
|
|
NM_001378609.3(OTOGL):c.169-8T>C
|
rs189897002
|
0.00055
|
|
NM_001378609.3(OTOGL):c.4976C>T (p.Ser1659Phe)
|
rs181109105
|
0.00055
|
|
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg)
|
rs201964644
|
0.00055
|
|
NM_002495.4(NDUFS4):c.80T>A (p.Val27Asp)
|
rs145347909
|
0.00055
|
|
NM_002778.4(PSAP):c.41-13G>C
|
rs138010978
|
0.00055
|
|
NM_003977.4(AIP):c.807C>T (p.Phe269=)
|
rs139407567
|
0.00055
|
|
NM_004239.4(TRIP11):c.9C>T (p.Ser3=)
|
rs148398142
|
0.00055
|
|
NM_004304.5(ALK):c.469C>T (p.Pro157Ser)
|
rs74774946
|
0.00055
|
|
NM_004525.3(LRP2):c.1189A>G (p.Ile397Val)
|
rs140575982
|
0.00055
|
|
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met)
|
rs1021523079
|
0.00055
|
|
NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys)
|
rs61757664
|
0.00055
|
|
NM_006294.5(UQCRB):c.200T>A (p.Leu67Gln)
|
rs139283183
|
0.00055
|
|
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys)
|
rs142499054
|
0.00055
|
|
NM_012213.3(MLYCD):c.1236C>T (p.Arg412=)
|
rs370278897
|
0.00055
|
|
NM_014639.4(SKIC3):c.3341+9A>G
|
rs376170264
|
0.00055
|
|
NM_015404.4(WHRN):c.1455G>A (p.Pro485=)
|
rs141807746
|
0.00055
|
|
NM_020461.4(TUBGCP6):c.1026G>A (p.Pro342=)
|
rs141805017
|
0.00055
|
|
NM_024105.4(ALG12):c.563G>A (p.Cys188Tyr)
|
rs555600636
|
0.00055
|
|
NM_033087.4(ALG2):c.475A>G (p.Ile159Val)
|
rs146770430
|
0.00055
|
|
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr)
|
rs149530842
|
0.00055
|
|
NM_194318.4(B3GLCT):c.288C>T (p.Leu96=)
|
rs9542305
|
0.00055
|
|
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys)
|
rs35658131
|
0.00055
|
|
NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=)
|
rs146899588
|
0.00054
|
|
NM_000081.4(LYST):c.4637C>T (p.Ala1546Val)
|
rs142983846
|
0.00054
|
|
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)
|
rs185631651
|
0.00054
|
|
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr)
|
rs17109853
|
0.00054
|
|
NM_000246.4(CIITA):c.712C>T (p.His238Tyr)
|
rs150307400
|
0.00054
|
|
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg)
|
rs28931583
|
0.00054
|
|
NM_000350.3(ABCA4):c.981C>T (p.Pro327=)
|
rs61753057
|
0.00054
|
|
NM_000360.4(TH):c.897C>T (p.Phe299=)
|
rs76719766
|
0.00054
|
|
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)
|
rs145628302
|
0.00054
|
|
NM_001004334.4(GPR179):c.973G>A (p.Gly325Arg)
|
rs200392643
|
0.00054
|
|
NM_001041.4(SI):c.3772A>G (p.Thr1258Ala)
|
rs144579834
|
0.00054
|
|
NM_001093.4(ACACB):c.3597G>A (p.Ser1199=)
|
rs148241794
|
0.00054
|
|
NM_001177316.2(SLC34A3):c.1464T>C (p.Ala488=)
|
rs144666114
|
0.00054
|
|
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr)
|
rs140614903
|
0.00054
|
|
NM_001292063.2(OTOG):c.1700G>A (p.Arg567Gln)
|
rs142253169
|
0.00054
|
|
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)
|
rs144562471
|
0.00054
|
|
NM_001367805.3(KIF23):c.100C>A (p.Pro34Thr)
|
rs148511930
|
0.00054
|
|
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363
|
0.00054
|
|
NM_001556.3(IKBKB):c.887C>T (p.Pro296Leu)
|
rs186203343
|
0.00054
|
|
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
|
rs113451409
|
0.00054
|
|
NM_002291.3(LAMB1):c.3038G>A (p.Arg1013Gln)
|
rs141390544
|
0.00054
|
|
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)
|
rs200396166
|
0.00054
|
|
NM_003977.4(AIP):c.382C>T (p.Arg128Cys)
|
rs140530307
|
0.00054
|
|
NM_004320.6(ATP2A1):c.1560C>T (p.Gly520=)
|
rs138565447
|
0.00054
|
|
NM_005502.4(ABCA1):c.2115+17C>T
|
rs371944946
|
0.00054
|
|
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=)
|
rs148868283
|
0.00054
|
|
NM_007215.4(POLG2):c.466A>G (p.Ile156Val)
|
rs137901677
|
0.00054
|
|
NM_012188.5(FOXI1):c.825C>T (p.Ala275=)
|
rs147596900
|
0.00054
|
|
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=)
|
rs141078449
|
0.00054
|
|
NM_014244.5(ADAMTS2):c.1083T>C (p.Asp361=)
|
rs150079799
|
0.00054
|
|
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)
|
rs139387396
|
0.00054
|
|
NM_014865.4(NCAPD2):c.1009G>A (p.Val337Met)
|
rs143795587
|
0.00054
|
|
NM_015602.4(TOR1AIP1):c.155A>T (p.Gln52Leu)
|
rs139690983
|
0.00054
|
|
NM_015627.3(LDLRAP1):c.396C>T (p.Ile132=)
|
rs369497122
|
0.00054
|
|
NM_016580.4(PCDH12):c.2030T>C (p.Val677Ala)
|
rs201826901
|
0.00054
|
|
NM_017570.5(OPLAH):c.1372G>A (p.Val458Met)
|
rs144920839
|
0.00054
|
|
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)
|
rs201692549
|
0.00054
|
|
NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys)
|
rs147011199
|
0.00054
|
|
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)
|
rs149163661
|
0.00054
|
|
NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys)
|
rs148385032
|
0.00054
|
|
NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly)
|
rs150532013
|
0.00054
|
|
NM_206933.4(USH2A):c.7301-6C>T
|
rs375499259
|
0.00054
|
|
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)
|
rs146303208
|
0.00053
|
|
NM_000064.4(C3):c.3490-10T>G
|
rs372843505
|
0.00053
|
|
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg)
|
rs148870919
|
0.00053
|
|
NM_000070.3(CAPN3):c.2380+19C>T
|
rs141234995
|
0.00053
|
|
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)
|
rs1800346
|
0.00053
|
|
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=)
|
rs115750405
|
0.00053
|
|
NM_000350.3(ABCA4):c.3468C>T (p.Tyr1156=)
|
rs113698006
|
0.00053
|
|
NM_000417.3(IL2RA):c.656-14T>A
|
rs74162097
|
0.00053
|
|
NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg)
|
rs147185142
|
0.00053
|
|
NM_000428.3(LTBP2):c.2541A>G (p.Arg847=)
|
rs140719298
|
0.00053
|
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
|
NM_000709.4(BCKDHA):c.289-5C>T
|
rs200646708
|
0.00053
|
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
|
NM_001006630.2(CHRM2):c.860C>G (p.Thr287Ser)
|
rs138193709
|
0.00053
|
|
NM_001012339.3(DNAJC21):c.1315G>A (p.Glu439Lys)
|
rs115834468
|
0.00053
|
|
NM_001035.3(RYR2):c.1548T>C (p.Asp516=)
|
rs146129084
|
0.00053
|
|
NM_001039141.3(TRIOBP):c.3219G>A (p.Ala1073=)
|
rs374759271
|
0.00053
|
|
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln)
|
rs200769097
|
0.00053
|
|
NM_001080467.3(MYO5B):c.1984G>A (p.Asp662Asn)
|
rs200378779
|
0.00053
|
|
NM_001083961.2(WDR62):c.4564G>A (p.Gly1522Arg)
|
rs142600079
|
0.00053
|
|
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys)
|
rs185119682
|
0.00053
|
|
NM_001142864.4(PIEZO1):c.7153G>A (p.Val2385Met)
|
rs369319123
|
0.00053
|
|
NM_001161352.2(KCNMA1):c.3147+15T>C
|
rs145048715
|
0.00053
|
|
NM_001292063.2(OTOG):c.2405T>A (p.Leu802Gln)
|
rs144972211
|
0.00053
|
|
NM_001378414.1(HDAC4):c.3174C>T (p.Ala1058=)
|
rs142279745
|
0.00053
|
|
NM_001793.6(CDH3):c.1443C>T (p.Asp481=)
|
rs144403828
|
0.00053
|
|
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)
|
rs140985224
|
0.00053
|
|
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His)
|
rs201481646
|
0.00053
|
|
NM_005276.4(GPD1):c.590T>C (p.Val197Ala)
|
rs2232207
|
0.00053
|
|
NM_005529.7(HSPG2):c.11256G>A (p.Leu3752=)
|
rs144122107
|
0.00053
|
|
NM_005560.6(LAMA5):c.2829C>T (p.Ser943=)
|
rs151209097
|
0.00053
|
|
NM_005612.5(REST):c.2486A>G (p.Glu829Gly)
|
rs146942863
|
0.00053
|
|
NM_006019.4(TCIRG1):c.2397C>T (p.His799=)
|
rs141356870
|
0.00053
|
|
NM_006231.4(POLE):c.4534G>A (p.Val1512Ile)
|
rs147354120
|
0.00053
|
|
NM_006892.4(DNMT3B):c.143-8C>T
|
rs200349528
|
0.00053
|
|
NM_014249.4(NR2E3):c.455C>T (p.Pro152Leu)
|
rs371853056
|
0.00053
|
|
NM_014874.4(MFN2):c.756C>T (p.Asn252=)
|
rs137960129
|
0.00053
|
|
NM_021044.4(DHH):c.1134T>A (p.Thr378=)
|
rs144444357
|
0.00053
|
|
NM_022124.6(CDH23):c.1446C>A (p.Val482=)
|
rs200324241
|
0.00053
|
|
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)
|
rs376804660
|
0.00053
|
|
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)
|
rs141276237
|
0.00053
|
|
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)
|
rs201890097
|
0.00053
|
|
NM_133459.4(CCBE1):c.354A>G (p.Arg118=)
|
rs116239086
|
0.00053
|
|
NM_144991.3(TSPEAR):c.668C>T (p.Ser223Leu)
|
rs149481227
|
0.00053
|
|
NM_147196.3(TMIE):c.219G>A (p.Thr73=)
|
rs202208051
|
0.00053
|
|
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala)
|
rs138930771
|
0.00053
|
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
|
NM_152722.5(HEPACAM):c.862C>T (p.Arg288Cys)
|
rs149782549
|
0.00053
|
|
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met)
|
rs142285781
|
0.00053
|
|
NM_201548.5(CERKL):c.589G>T (p.Ala197Ser)
|
rs151110889
|
0.00053
|
|
NM_000032.5(ALAS2):c.653G>A (p.Arg218His)
|
rs185504937
|
0.00052
|
|
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile)
|
rs147221131
|
0.00052
|
|
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met)
|
rs142580756
|
0.00052
|
|
NM_000203.5(IDUA):c.493+7G>A
|
rs200509712
|
0.00052
|
|
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val)
|
rs61736656
|
0.00052
|
|
NM_001001344.3(ATP2B3):c.214G>A (p.Ala72Thr)
|
rs149114271
|
0.00052
|
|
NM_001005498.4(RHBDF2):c.853G>A (p.Ala285Thr)
|
rs140433374
|
0.00052
|
|
NM_001098511.3(KIF2A):c.48G>A (p.Glu16=)
|
rs533812435
|
0.00052
|
|
NM_001128840.3(CACNA1D):c.2812-14G>T
|
rs369180125
|
0.00052
|
|
NM_001145809.2(MYH14):c.1919G>A (p.Arg640Gln)
|
rs199696801
|
0.00052
|
|
NM_001164508.2(NEB):c.984C>T (p.Thr328=)
|
rs199969138
|
0.00052
|
|
NM_001286577.2(C2CD3):c.6251C>G (p.Thr2084Ser)
|
rs562313391
|
0.00052
|
|
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=)
|
rs144893234
|
0.00052
|
|
NM_001369.3(DNAH5):c.6956C>T (p.Thr2319Met)
|
rs144983881
|
0.00052
|
|
NM_001374385.1(ATP8B1):c.2358G>A (p.Val786=)
|
rs33965008
|
0.00052
|
|
NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp)
|
rs200482899
|
0.00052
|
|
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val)
|
rs111936548
|
0.00052
|
|
NM_002585.4(PBX1):c.92G>T (p.Gly31Val)
|
rs192264696
|
0.00052
|
|
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu)
|
rs11568361
|
0.00052
|
|
NM_004076.5(CRYBB3):c.327+1G>T
|
rs143187630
|
0.00052
|
|
NM_004999.4(MYO6):c.1546+6T>C
|
rs199999513
|
0.00052
|
|
NM_014855.3(AP5Z1):c.970-5C>T
|
rs373671779
|
0.00052
|
|
NM_017534.6(MYH2):c.5820A>G (p.Glu1940=)
|
rs140527143
|
0.00052
|
|
NM_020376.4(PNPLA2):c.903C>T (p.Pro301=)
|
rs141190104
|
0.00052
|
|
NM_032444.4(SLX4):c.2756C>T (p.Thr919Ile)
|
rs145533919
|
0.00052
|
|
NM_206933.4(USH2A):c.3581C>T (p.Pro1194Leu)
|
rs145114751
|
0.00052
|
|
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu)
|
rs139457557
|
0.00051
|
|
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=)
|
rs150518187
|
0.00051
|
|
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys)
|
rs151185188
|
0.00051
|
|
NM_000046.5(ARSB):c.88C>T (p.Leu30=)
|
rs766870239
|
0.00051
|
|
NM_000070.3(CAPN3):c.1746-7C>G
|
rs199978708
|
0.00051
|
|
NM_000124.4(ERCC6):c.4095T>A (p.Asn1365Lys)
|
rs150277901
|
0.00051
|
|
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)
|
rs1800366
|
0.00051
|
|
NM_000369.5(TSHR):c.463A>T (p.Ile155Leu)
|
rs141293178
|
0.00051
|
|
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu)
|
rs17222744
|
0.00051
|
|
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)
|
rs200102493
|
0.00051
|
|
NM_000453.3(SLC5A5):c.862G>A (p.Gly288Ser)
|
rs142014480
|
0.00051
|
|
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)
|
rs200151353
|
0.00051
|
|
NM_000540.3(RYR1):c.3505A>C (p.Met1169Leu)
|
rs139069946
|
0.00051
|
|
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile)
|
rs149939736
|
0.00051
|
|
NM_000642.3(AGL):c.1908A>G (p.Ser636=)
|
rs144723143
|
0.00051
|
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00051
|
|
NM_001040716.2(PC):c.3391G>A (p.Val1131Met)
|
rs116518022
|
0.00051
|
|
NM_001042545.2(LTBP4):c.1882C>T (p.Arg628Cys)
|
rs200338042
|
0.00051
|
|
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys)
|
rs202184174
|
0.00051
|
|
NM_001142800.2(EYS):c.6828C>T (p.Ala2276=)
|
rs373606872
|
0.00051
|
|
NM_001142864.4(PIEZO1):c.6165-7G>A
|
rs141011459
|
0.00051
|
|
NM_001164508.2(NEB):c.3468C>T (p.Val1156=)
|
rs373258662
|
0.00051
|
|
NM_001291303.3(FAT4):c.8290A>C (p.Asn2764His)
|
rs147281598
|
0.00051
|
|
NM_001297.5(CNGB1):c.3421G>A (p.Ala1141Thr)
|
rs201449358
|
0.00051
|
|
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=)
|
rs201727684
|
0.00051
|
|
NM_001355436.2(SPTB):c.3016G>A (p.Ala1006Thr)
|
rs151112486
|
0.00051
|
|
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp)
|
rs104895427
|
0.00051
|
|
NM_001852.4(COL9A2):c.335T>G (p.Leu112Arg)
|
rs143008970
|
0.00051
|
|
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu)
|
rs77937237
|
0.00051
|
|
NM_002667.5(PLN):c.27C>T (p.Arg9=)
|
rs145623013
|
0.00051
|
|
NM_002691.4(POLD1):c.1061C>T (p.Ala354Val)
|
rs140990974
|
0.00051
|
|
NM_003383.5(VLDLR):c.2371G>A (p.Val791Ile)
|
rs35334949
|
0.00051
|
|
NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp)
|
rs201114196
|
0.00051
|
|
NM_004385.5(VCAN):c.1931C>T (p.Pro644Leu)
|
rs148104757
|
0.00051
|
|
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu)
|
rs149598144
|
0.00051
|
|
NM_004933.3(CDH15):c.365C>T (p.Ala122Val)
|
rs121434541
|
0.00051
|
|
NM_005529.7(HSPG2):c.5705G>A (p.Gly1902Asp)
|
rs553885469
|
0.00051
|
|
NM_005677.4(COLQ):c.167C>T (p.Pro56Leu)
|
rs768517440
|
0.00051
|
|
NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser)
|
rs78936193
|
0.00051
|
|
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn)
|
rs200992827
|
0.00051
|
|
NM_014336.5(AIPL1):c.97-15C>T
|
rs190887679
|
0.00051
|
|
NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser)
|
rs149108037
|
0.00051
|
|
NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn)
|
rs143290224
|
0.00051
|
|
NM_015466.4(PTPN23):c.3051G>C (p.Gln1017His)
|
rs201017613
|
0.00051
|
|
NM_015922.3(NSDHL):c.65C>T (p.Thr22Ile)
|
rs375100066
|
0.00051
|
|
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn)
|
rs201415651
|
0.00051
|
|
NM_020461.4(TUBGCP6):c.1539C>T (p.Cys513=)
|
rs149982006
|
0.00051
|
|
NM_022041.4(GAN):c.730A>G (p.Ile244Val)
|
rs200749953
|
0.00051
|
|
NM_022437.3(ABCG8):c.1416C>T (p.Tyr472=)
|
rs144399404
|
0.00051
|
|
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=)
|
rs147582834
|
0.00051
|
|
NM_024513.4(FYCO1):c.56-4A>G
|
rs150959263
|
0.00051
|
|
NM_025074.7(FRAS1):c.3010+9G>A
|
rs148841455
|
0.00051
|
|
NM_031372.4(HNRNPDL):c.274T>C (p.Ser92Pro)
|
rs199543859
|
0.00051
|
|
NM_032119.4(ADGRV1):c.684T>C (p.Asn228=)
|
rs181889432
|
0.00051
|
|
NM_032382.5(COG8):c.249C>G (p.Ala83=)
|
rs144030835
|
0.00051
|
|
NM_032620.4(GTPBP3):c.614A>G (p.Tyr205Cys)
|
rs149839355
|
0.00051
|
|
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys)
|
rs141706561
|
0.00051
|
|
NM_033118.4(MYLK2):c.1778C>T (p.Ala593Val)
|
rs146497334
|
0.00051
|
|
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp)
|
rs146522169
|
0.00051
|
|
NM_080911.3(UNG):c.194C>T (p.Pro65Leu)
|
rs199956941
|
0.00051
|
|
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs)
|
rs745711489
|
0.00051
|
|
NM_145691.4(ATPAF2):c.111C>T (p.Ala37=)
|
rs34738009
|
0.00051
|
|
NM_145691.4(ATPAF2):c.805G>A (p.Gly269Ser)
|
rs142604577
|
0.00051
|
|
NM_173689.7(CRB2):c.755-12G>A
|
rs199716560
|
0.00051
|
|
NM_182894.3(VSX2):c.939T>A (p.Ala313=)
|
rs372651860
|
0.00051
|
|
NM_182914.3(SYNE2):c.8761A>C (p.Lys2921Gln)
|
rs182683822
|
0.00051
|
|
NM_000182.5(HADHA):c.652G>C (p.Val218Leu)
|
rs71441018
|
0.00050
|
|
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=)
|
rs141153056
|
0.00050
|
|
NM_000211.5(ITGB2):c.853C>T (p.Arg285Cys)
|
rs137959302
|
0.00050
|
|
NM_000246.4(CIITA):c.931A>G (p.Met311Val)
|
rs140139362
|
0.00050
|
|
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=)
|
rs200610057
|
0.00050
|
|
NM_000532.5(PCCB):c.603T>C (p.Ala201=)
|
rs141340198
|
0.00050
|
|
NM_000540.3(RYR1):c.13999-19G>A
|
rs775494152
|
0.00050
|
|
NM_000687.4(AHCY):c.390C>T (p.Asp130=)
|
rs143931269
|
0.00050
|
|
NM_000787.4(DBH):c.807C>T (p.Cys269=)
|
rs141816448
|
0.00050
|
|
NM_001005242.3(PKP2):c.1379-2109G>A
|
rs139159464
|
0.00050
|
|
NM_001008216.2(GALE):c.873+13_873+14insA
|
rs765063773
|
0.00050
|
|
NM_001084.5(PLOD3):c.335A>G (p.Asp112Gly)
|
rs200949505
|
0.00050
|
|
NM_001122769.3(LCA5):c.1215T>G (p.Val405=)
|
rs41270545
|
0.00050
|
|
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)
|
rs139754493
|
0.00050
|
|
NM_001142864.4(PIEZO1):c.4274G>A (p.Ser1425Asn)
|
rs772788410
|
0.00050
|
|
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn)
|
rs144848998
|
0.00050
|
|
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys)
|
rs184516994
|
0.00050
|
|
NM_001369369.1(FOXN1):c.1184C>T (p.Pro395Leu)
|
rs199739943
|
0.00050
|
|
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala)
|
rs144814689
|
0.00050
|
|
NM_002335.4(LRP5):c.1032G>C (p.Leu344=)
|
rs143499301
|
0.00050
|
|
NM_002529.4(NTRK1):c.1320C>G (p.Asn440Lys)
|
rs147443162
|
0.00050
|
|
NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp)
|
rs200605669
|
0.00050
|
|
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr)
|
rs200111698
|
0.00050
|
|
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala)
|
rs144840779
|
0.00050
|
|
NM_014989.7(RIMS1):c.2294A>G (p.Gln765Arg)
|
rs199629596
|
0.00050
|
|
NM_020987.5(ANK3):c.315+10A>G
|
rs202079424
|
0.00050
|
|
NM_031433.4(MFRP):c.976-14A>C
|
rs200069261
|
0.00050
|
|
NM_032119.4(ADGRV1):c.13654-7C>T
|
rs373551551
|
0.00050
|
|
NM_138694.4(PKHD1):c.11507-11C>T
|
rs201478327
|
0.00050
|
|
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys)
|
rs150785666
|
0.00050
|
|
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)
|
rs150783688
|
0.00050
|
|
NM_183357.3(ADCY5):c.2866G>A (p.Asp956Asn)
|
rs200892634
|
0.00050
|
|
NM_206933.4(USH2A):c.8600C>T (p.Ser2867Leu)
|
rs145468090
|
0.00050
|
|
NM_000096.4(CP):c.2554+8C>T
|
rs749646388
|
0.00049
|
|
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)
|
rs149600380
|
0.00049
|
|
NM_000186.4(CFH):c.285T>C (p.Thr95=)
|
rs148182625
|
0.00049
|
|
NM_000352.6(ABCC8):c.3867+7G>A
|
rs372198547
|
0.00049
|
|
NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr)
|
rs6405
|
0.00049
|
|
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=)
|
rs56338790
|
0.00049
|
|
NM_001005242.3(PKP2):c.1379-2019C>T
|
rs149930872
|
0.00049
|
|
NM_001142416.2(AIMP1):c.592C>T (p.Pro198Ser)
|
rs138106524
|
0.00049
|
|
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile)
|
rs59157279
|
0.00049
|
|
NM_001199753.2(CPT1C):c.2092A>G (p.Asn698Asp)
|
rs143091111
|
0.00049
|
|
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys)
|
rs202083639
|
0.00049
|
|
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp)
|
rs139646715
|
0.00049
|
|
NM_001277115.2(DNAH11):c.7294C>T (p.Arg2432Trp)
|
rs188615176
|
0.00049
|
|
NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala)
|
rs200221425
|
0.00049
|
|
NM_001384140.1(PCDH15):c.4671+1046A>G
|
rs201855435
|
0.00049
|
|
NM_001395413.1(POR):c.390C>T (p.Asn130=)
|
rs181837747
|
0.00049
|
|
NM_002317.7(LOX):c.388T>C (p.Ser130Pro)
|
rs139035462
|
0.00049
|
|
NM_002838.5(PTPRC):c.3073-6A>G
|
rs191867796
|
0.00049
|
|
NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr)
|
rs142912356
|
0.00049
|
|
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys)
|
rs201253322
|
0.00049
|
|
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=)
|
rs72705400
|
0.00049
|
|
NM_004273.5(CHST3):c.1135C>T (p.Leu379=)
|
rs564028722
|
0.00049
|
|
NM_006214.4(PHYH):c.678+5G>T
|
rs201499815
|
0.00049
|
|
NM_006231.4(POLE):c.4730A>C (p.Glu1577Ala)
|
rs5744948
|
0.00049
|
|
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)
|
rs139229844
|
0.00049
|
|
NM_015909.4(NBAS):c.5465A>C (p.Asn1822Thr)
|
rs199717686
|
0.00049
|
|
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile)
|
rs201734915
|
0.00049
|
|
NM_017763.6(RNF43):c.319G>A (p.Val107Ile)
|
rs199909371
|
0.00049
|
|
NM_017882.3(CLN6):c.487-15C>T
|
rs200775021
|
0.00049
|
|
NM_018668.5(VPS33B):c.1362C>T (p.Ala454=)
|
rs142964161
|
0.00049
|
|
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
|
rs138937107
|
0.00049
|
|
NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn)
|
rs143907628
|
0.00049
|
|
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=)
|
rs182990046
|
0.00049
|
|
NM_052989.3(IFT122):c.986C>T (p.Ala329Val)
|
rs200915373
|
0.00049
|
|
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg)
|
rs112030234
|
0.00049
|
|
NM_145207.3(AFG2A):c.1622C>G (p.Pro541Arg)
|
rs143957561
|
0.00049
|
|
NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile)
|
rs138172448
|
0.00048
|
|
NM_000130.5(F5):c.885C>T (p.Thr295=)
|
rs148752831
|
0.00048
|
|
NM_000208.4(INSR):c.2573C>T (p.Thr858Met)
|
rs201466857
|
0.00048
|
|
NM_000211.5(ITGB2):c.1413-8G>A
|
rs375743879
|
0.00048
|
|
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr)
|
rs201753022
|
0.00048
|
|
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)
|
rs41311127
|
0.00048
|
|
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)
|
rs201492706
|
0.00048
|
|
NM_001005498.4(RHBDF2):c.1486A>G (p.Lys496Glu)
|
rs150723002
|
0.00048
|
|
NM_001039141.3(TRIOBP):c.2835C>G (p.Asp945Glu)
|
rs200608722
|
0.00048
|
|
NM_001039213.4(CEACAM16):c.781G>A (p.Glu261Lys)
|
rs201188632
|
0.00048
|
|
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro)
|
rs147200024
|
0.00048
|
|
NM_001164508.2(NEB):c.19315-10T>C
|
rs201473873
|
0.00048
|
|
NM_001291303.3(FAT4):c.12342C>G (p.Ile4114Met)
|
rs150804471
|
0.00048
|
|
NM_001291303.3(FAT4):c.13417G>A (p.Val4473Ile)
|
rs145835705
|
0.00048
|
|
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly)
|
rs545257884
|
0.00048
|
|
NM_001361.5(DHODH):c.804C>T (p.Ala268=)
|
rs374538940
|
0.00048
|
|
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile)
|
rs187264529
|
0.00048
|
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
|
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser)
|
rs143827620
|
0.00048
|
|
NM_001457.4(FLNB):c.6173A>G (p.Lys2058Arg)
|
rs141698427
|
0.00048
|
|
NM_002335.4(LRP5):c.4256A>G (p.Asn1419Ser)
|
rs145750689
|
0.00048
|
|
NM_003184.4(TAF2):c.3320T>G (p.Leu1107Arg)
|
rs546468025
|
0.00048
|
|
NM_003235.5(TG):c.3139+9G>A
|
rs201582196
|
0.00048
|
|
NM_003480.4(MFAP5):c.236A>T (p.Asn79Ile)
|
rs139330366
|
0.00048
|
|
NM_003907.3(EIF2B5):c.299C>T (p.Ala100Val)
|
rs150531914
|
0.00048
|
|
NM_004046.6(ATP5F1A):c.416A>G (p.Asp139Gly)
|
rs148515768
|
0.00048
|
|
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp)
|
rs144885813
|
0.00048
|
|
NM_004415.4(DSP):c.1574+14G>T
|
rs200443042
|
0.00048
|
|
NM_004817.4(TJP2):c.908C>T (p.Pro303Leu)
|
rs199641113
|
0.00048
|
|
NM_005886.3(KATNB1):c.1110C>T (p.Arg370=)
|
rs146443074
|
0.00048
|
|
NM_006005.3(WFS1):c.2424C>T (p.Ser808=)
|
rs56035336
|
0.00048
|
|
NM_006017.3(PROM1):c.914C>T (p.Pro305Leu)
|
rs142245630
|
0.00048
|
|
NM_006204.4(PDE6C):c.219G>T (p.Gly73=)
|
rs140469169
|
0.00048
|
|
NM_006904.7(PRKDC):c.6901C>G (p.Gln2301Glu)
|
rs376211703
|
0.00048
|
|
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn)
|
rs141690214
|
0.00048
|
|
NM_014049.5(ACAD9):c.195T>C (p.Asn65=)
|
rs144978857
|
0.00048
|
|
NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln)
|
rs758630057
|
0.00048
|
|
NM_014714.4(IFT140):c.1593G>T (p.Gly531=)
|
rs143491016
|
0.00048
|
|
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)
|
rs141098495
|
0.00048
|
|
NM_017866.6(TMEM70):c.97C>A (p.Arg33=)
|
rs145329086
|
0.00048
|
|
NM_018006.5(TRMU):c.772+8G>A
|
rs201372242
|
0.00048
|
|
NM_020376.4(PNPLA2):c.487-8C>T
|
rs201418203
|
0.00048
|
|
NM_020745.4(AARS2):c.2630G>A (p.Arg877Gln)
|
rs141941157
|
0.00048
|
|
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser)
|
rs141240501
|
0.00048
|
|
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln)
|
rs201891953
|
0.00048
|
|
NM_025193.4(HSD3B7):c.695-6C>T
|
rs139152685
|
0.00048
|
|
NM_030787.4(CFHR5):c.835T>A (p.Tyr279Asn)
|
rs143240067
|
0.00048
|
|
NM_033004.4(NLRP1):c.2009C>T (p.Thr670Ile)
|
rs61753139
|
0.00048
|
|
NM_033004.4(NLRP1):c.2056A>G (p.Met686Val)
|
rs61753138
|
0.00048
|
|
NM_052845.4(MMAB):c.620C>T (p.Ala207Val)
|
rs61739388
|
0.00048
|
|
NM_052859.4(RFT1):c.520T>C (p.Leu174=)
|
rs149266076
|
0.00048
|
|
NM_176806.4(MOCS2):c.14G>A (p.Cys5Tyr)
|
rs572637154
|
0.00048
|
|
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=)
|
rs147321712
|
0.00048
|
|
NM_000057.4(BLM):c.3020-15C>T
|
rs200210516
|
0.00047
|
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
|
NM_000147.5(FUCA1):c.1119A>G (p.Lys373=)
|
rs370453371
|
0.00047
|
|
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)
|
rs137943515
|
0.00047
|
|
NM_000843.4(GRM6):c.1943C>T (p.Ala648Val)
|
rs61733863
|
0.00047
|
|
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln)
|
rs147630375
|
0.00047
|
|
NM_001042545.2(LTBP4):c.3550C>T (p.Arg1184Trp)
|
rs34051360
|
0.00047
|
|
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=)
|
rs148188703
|
0.00047
|
|
NM_001142864.4(PIEZO1):c.5214+7C>T
|
rs764990602
|
0.00047
|
|
NM_001142864.4(PIEZO1):c.6781A>G (p.Ser2261Gly)
|
rs550322372
|
0.00047
|
|
NM_001291303.3(FAT4):c.4199G>A (p.Arg1400His)
|
rs376791829
|
0.00047
|
|
NM_001370595.2(COA8):c.192C>T (p.Asn64=)
|
rs200801272
|
0.00047
|
|
NM_001374385.1(ATP8B1):c.433C>T (p.Leu145=)
|
rs140634215
|
0.00047
|
|
NM_001375808.2(LPIN2):c.2443-9C>T
|
rs191749331
|
0.00047
|
|
NM_001457.4(FLNB):c.4978G>A (p.Ala1660Thr)
|
rs142114129
|
0.00047
|
|
NM_002185.5(IL7R):c.152C>T (p.Ser51Leu)
|
rs138482569
|
0.00047
|
|
NM_002296.4(LBR):c.1057C>T (p.Arg353Trp)
|
rs138731836
|
0.00047
|
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
|
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)
|
rs149533093
|
0.00047
|
|
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=)
|
rs112652327
|
0.00047
|
|
NM_004168.4(SDHA):c.456+6G>T
|
rs371735891
|
0.00047
|
|
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)
|
rs147192139
|
0.00047
|
|
NM_004859.4(CLTC):c.4493G>A (p.Arg1498His)
|
rs117813867
|
0.00047
|
|
NM_005045.4(RELN):c.139G>A (p.Glu47Lys)
|
rs139648092
|
0.00047
|
|
NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile)
|
rs116647440
|
0.00047
|
|
NM_006031.6(PCNT):c.2610-8T>C
|
rs377164652
|
0.00047
|
|
NM_006231.4(POLE):c.5659G>A (p.Val1887Met)
|
rs114119067
|
0.00047
|
|
NM_012254.3(SLC27A5):c.524C>T (p.Thr175Ile)
|
rs150780205
|
0.00047
|
|
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu)
|
rs145650484
|
0.00047
|
|
NM_015909.4(NBAS):c.5467A>T (p.Ile1823Phe)
|
rs201084909
|
0.00047
|
|
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=)
|
rs138085418
|
0.00047
|
|
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe)
|
rs189061214
|
0.00047
|
|
NM_020376.4(PNPLA2):c.492C>T (p.Tyr164=)
|
rs147314508
|
0.00047
|
|
NM_022367.4(SEMA4A):c.1215G>T (p.Thr405=)
|
rs151260330
|
0.00047
|
|
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser)
|
rs183633457
|
0.00047
|
|
NM_080424.4(SP110):c.1200C>T (p.Asp400=)
|
rs115361843
|
0.00047
|
|
NM_138295.5(PKD1L1):c.5108G>A (p.Arg1703His)
|
rs146605392
|
0.00047
|
|
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser)
|
rs146460917
|
0.00047
|
|
NM_181507.2(HPS5):c.2866T>C (p.Tyr956His)
|
rs147430035
|
0.00047
|
|
NM_198239.2(CCN6):c.589+27C>T
|
rs200472841
|
0.00047
|
|
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp)
|
rs144783615
|
0.00047
|
|
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)
|
rs146445078
|
0.00047
|
|
NM_000078.3(CETP):c.940G>A (p.Glu314Lys)
|
rs140547417
|
0.00046
|
|
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=)
|
rs373495082
|
0.00046
|
|
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys)
|
rs201195495
|
0.00046
|
|
NM_000283.4(PDE6B):c.267C>T (p.Ala89=)
|
rs147181781
|
0.00046
|
|
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val)
|
rs145065936
|
0.00046
|
|
NM_000497.4(CYP11B1):c.518A>G (p.Lys173Arg)
|
rs142163070
|
0.00046
|
|
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met)
|
rs145044872
|
0.00046
|
|
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)
|
rs727504718
|
0.00046
|
|
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)
|
rs373282364
|
0.00046
|
|
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val)
|
rs368075878
|
0.00046
|
|
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)
|
rs141137410
|
0.00046
|
|
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=)
|
rs375626512
|
0.00046
|
|
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)
|
rs149974794
|
0.00046
|
|
NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val)
|
rs150328852
|
0.00046
|
|
NM_001288705.3(CSF1R):c.316C>T (p.Arg106Trp)
|
rs143025739
|
0.00046
|
|
NM_001371333.1(DIABLO):c.315+6T>A
|
rs370571609
|
0.00046
|
|
NM_001374385.1(ATP8B1):c.1433A>G (p.Asp478Gly)
|
rs200214627
|
0.00046
|
|
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu)
|
rs147426388
|
0.00046
|
|
NM_001457.4(FLNB):c.4495G>A (p.Asp1499Asn)
|
rs150445941
|
0.00046
|
|
NM_001852.4(COL9A2):c.927T>G (p.Asp309Glu)
|
rs200290031
|
0.00046
|
|
NM_002335.4(LRP5):c.2324T>C (p.Ile775Thr)
|
rs144983823
|
0.00046
|
|
NM_002335.4(LRP5):c.2829G>A (p.Pro943=)
|
rs201018263
|
0.00046
|
|
NM_002435.3(MPI):c.670+11T>C
|
rs144118442
|
0.00046
|
|
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu)
|
rs138158369
|
0.00046
|
|
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=)
|
rs112990531
|
0.00046
|
|
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro)
|
rs149141477
|
0.00046
|
|
NM_003322.6(TULP1):c.823-4A>G
|
rs200264819
|
0.00046
|
|
NM_004560.4(ROR2):c.234G>A (p.Thr78=)
|
rs141093530
|
0.00046
|
|
NM_005220.3(DLX3):c.853G>A (p.Ala285Thr)
|
rs148713638
|
0.00046
|
|
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro)
|
rs139838884
|
0.00046
|
|
NM_006031.6(PCNT):c.9594G>A (p.Thr3198=)
|
rs143776463
|
0.00046
|
|
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)
|
rs151273553
|
0.00046
|
|
NM_006767.4(LZTR1):c.1531G>A (p.Val511Met)
|
rs200062851
|
0.00046
|
|
NM_015192.4(PLCB1):c.627A>G (p.Pro209=)
|
rs151006778
|
0.00046
|
|
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys)
|
rs147744868
|
0.00046
|
|
NM_015662.3(IFT172):c.2770T>G (p.Ser924Ala)
|
rs142409945
|
0.00046
|
|
NM_016239.4(MYO15A):c.10094A>G (p.Gln3365Arg)
|
rs200843771
|
0.00046
|
|
NM_016239.4(MYO15A):c.3133A>C (p.Thr1045Pro)
|
rs201826872
|
0.00046
|
|
NM_018474.6(KIZ):c.1660G>T (p.Ala554Ser)
|
rs532984240
|
0.00046
|
|
NM_018685.5(ANLN):c.2462C>T (p.Thr821Met)
|
rs150551001
|
0.00046
|
|
NM_020320.5(RARS2):c.78A>C (p.Thr26=)
|
rs138360045
|
0.00046
|
|
NM_020533.3(MCOLN1):c.413C>T (p.Ala138Val)
|
rs142259322
|
0.00046
|
|
NM_021008.4(DEAF1):c.1640C>G (p.Thr547Ser)
|
rs111947578
|
0.00046
|
|
NM_022773.4(LMF1):c.1405G>A (p.Ala469Thr)
|
rs181731943
|
0.00046
|
|
NM_030787.4(CFHR5):c.232T>C (p.Ser78Pro)
|
rs146025130
|
0.00046
|
|
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly)
|
rs200197273
|
0.00046
|
|
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu)
|
rs145425340
|
0.00046
|
|
NM_153676.4(USH1C):c.2265C>T (p.Leu755=)
|
rs151251262
|
0.00046
|
|
NM_173689.7(CRB2):c.38C>T (p.Ala13Val)
|
rs199695001
|
0.00046
|
|
NM_177965.4(CFAP418):c.269A>G (p.Asn90Ser)
|
rs199731969
|
0.00046
|
|
NM_183357.3(ADCY5):c.818T>C (p.Val273Ala)
|
rs141412542
|
0.00046
|
|
NM_194248.3(OTOF):c.5829C>T (p.Ser1943=)
|
rs151005752
|
0.00046
|
|
NM_206933.4(USH2A):c.10609C>T (p.Leu3537Phe)
|
rs138656755
|
0.00046
|
|
NM_207122.2(EXT2):c.1087G>A (p.Val363Met)
|
rs138943091
|
0.00046
|
|
NM_207361.6(FREM2):c.2754C>T (p.Val918=)
|
rs140353326
|
0.00046
|
|
NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg)
|
rs114595447
|
0.00046
|
|
NM_213655.5(WNK1):c.2995C>G (p.Leu999Val)
|
rs72649856
|
0.00046
|
|
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=)
|
rs200996053
|
0.00045
|
|
NM_000098.3(CPT2):c.321A>G (p.Lys107=)
|
rs147846614
|
0.00045
|
|
NM_000124.4(ERCC6):c.4144G>A (p.Gly1382Arg)
|
rs4253228
|
0.00045
|
|
NM_000154.2(GALK1):c.66G>A (p.Glu22=)
|
rs367558510
|
0.00045
|
|
NM_000222.3(KIT):c.200C>G (p.Thr67Ser)
|
rs144933028
|
0.00045
|
|
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr)
|
rs200241993
|
0.00045
|
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00045
|
|
NM_000452.3(SLC10A2):c.785C>T (p.Thr262Met)
|
rs72547505
|
0.00045
|
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
|
NM_000518.5(HBB):c.316-125A>G
|
rs63751175
|
0.00045
|
|
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)
|
rs139435774
|
0.00045
|
|
NM_000553.6(WRN):c.3738G>A (p.Leu1246=)
|
rs147117969
|
0.00045
|
|
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)
|
rs186906598
|
0.00045
|
|
NM_001048174.2(MUTYH):c.914-9C>T
|
rs3219488
|
0.00045
|
|
NM_001061.7(TBXAS1):c.623C>G (p.Pro208Arg)
|
rs137946697
|
0.00045
|
|
NM_001098671.2(RASGRP2):c.371+7G>T
|
rs181901181
|
0.00045
|
|
NM_001193315.2(VIPAS39):c.447+9C>T
|
rs145373891
|
0.00045
|
|
NM_001270508.2(TNFAIP3):c.2364G>A (p.Met788Ile)
|
rs143002189
|
0.00045
|
|
NM_001292063.2(OTOG):c.94+75G>T
|
rs550807341
|
0.00045
|
|
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys)
|
rs192843629
|
0.00045
|
|
NM_001355436.2(SPTB):c.5942G>A (p.Arg1981His)
|
rs146513976
|
0.00045
|
|
NM_001365999.1(SZT2):c.8944C>T (p.His2982Tyr)
|
rs754779853
|
0.00045
|
|
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=)
|
rs149862905
|
0.00045
|
|
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=)
|
rs146796009
|
0.00045
|
|
NM_001983.4(ERCC1):c.191C>T (p.Ala64Val)
|
rs142631483
|
0.00045
|
|
NM_002691.4(POLD1):c.2052G>C (p.Gln684His)
|
rs144143245
|
0.00045
|
|
NM_003849.4(SUCLG1):c.384C>T (p.Ala128=)
|
rs139731592
|
0.00045
|
|
NM_003849.4(SUCLG1):c.721G>A (p.Glu241Lys)
|
rs145106503
|
0.00045
|
|
NM_004035.7(ACOX1):c.1344G>A (p.Val448=)
|
rs753969664
|
0.00045
|
|
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser)
|
rs140170914
|
0.00045
|
|
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala)
|
rs138534976
|
0.00045
|
|
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr)
|
rs144900514
|
0.00045
|
|
NM_006031.6(PCNT):c.9800G>A (p.Arg3267His)
|
rs200268000
|
0.00045
|
|
NM_006891.4(CRYGD):c.264C>G (p.His88Gln)
|
rs75156162
|
0.00045
|
|
NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=)
|
rs143847495
|
0.00045
|
|
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu)
|
rs200724087
|
0.00045
|
|
NM_014908.4(DOLK):c.525T>G (p.Val175=)
|
rs200278288
|
0.00045
|
|
NM_016239.4(MYO15A):c.858C>G (p.Pro286=)
|
rs200424851
|
0.00045
|
|
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=)
|
rs140946753
|
0.00045
|
|
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn)
|
rs72650720
|
0.00045
|
|
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln)
|
rs201975029
|
0.00045
|
|
NM_020297.4(ABCC9):c.75T>C (p.Phe25=)
|
rs201972673
|
0.00045
|
|
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys)
|
rs111033522
|
0.00045
|
|
NM_022369.4(STRA6):c.388G>A (p.Ala130Thr)
|
rs141477248
|
0.00045
|
|
NM_025137.4(SPG11):c.1605C>T (p.Ala535=)
|
rs117683234
|
0.00045
|
|
NM_025137.4(SPG11):c.6632G>A (p.Arg2211His)
|
rs144165094
|
0.00045
|
|
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln)
|
rs201747452
|
0.00045
|
|
NM_053025.4(MYLK):c.999G>A (p.Pro333=)
|
rs13319347
|
0.00045
|
|
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp)
|
rs141140798
|
0.00045
|
|
NM_145207.3(AFG2A):c.637G>A (p.Asp213Asn)
|
rs139066705
|
0.00045
|
|
NM_177924.5(ASAH1):c.457+7G>A
|
rs189892461
|
0.00045
|
|
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly)
|
rs199904558
|
0.00045
|
|
NM_199242.3(UNC13D):c.2368-5C>T
|
rs180768962
|
0.00045
|
|
NM_201253.3(CRB1):c.3695A>G (p.His1232Arg)
|
rs142090517
|
0.00045
|
|
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val)
|
rs137868043
|
0.00045
|
|
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)
|
rs147774793
|
0.00044
|
|
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=)
|
rs146522699
|
0.00044
|
|
NM_000275.3(OCA2):c.1336A>G (p.Met446Val)
|
rs140566426
|
0.00044
|
|
NM_000282.4(PCCA):c.1002C>T (p.Thr334=)
|
rs150106872
|
0.00044
|
|
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)
|
rs61748434
|
0.00044
|
|
NM_000338.3(SLC12A1):c.1089A>G (p.Ala363=)
|
rs142646329
|
0.00044
|
|
NM_000375.3(UROS):c.22G>A (p.Asp8Asn)
|
rs558929395
|
0.00044
|
|
NM_000392.5(ABCC2):c.4075A>C (p.Ile1359Leu)
|
rs142700351
|
0.00044
|
|
NM_000497.4(CYP11B1):c.1042G>A (p.Ala348Thr)
|
rs6407
|
0.00044
|
|
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=)
|
rs147098353
|
0.00044
|
|
NM_000875.5(IGF1R):c.568C>T (p.Pro190Ser)
|
rs144739747
|
0.00044
|
|
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)
|
rs200696965
|
0.00044
|
|
NM_001061.7(TBXAS1):c.1520A>T (p.Glu507Val)
|
rs200663004
|
0.00044
|
|
NM_001083116.3(PRF1):c.368G>A (p.Arg123His)
|
rs139336186
|
0.00044
|
|
NM_001114134.2(EPB42):c.581G>A (p.Arg194His)
|
rs146348439
|
0.00044
|
|
NM_001122630.2(CDKN1C):c.423G>A (p.Pro141=)
|
rs878853626
|
0.00044
|
|
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)
|
rs143762717
|
0.00044
|
|
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg)
|
rs200474297
|
0.00044
|
|
NM_001164508.2(NEB):c.23418G>T (p.Gln7806His)
|
rs765789028
|
0.00044
|
|
NM_001166114.2(PNPLA6):c.3914-8G>A
|
rs374861157
|
0.00044
|
|
NM_001252024.2(TRPM1):c.551G>A (p.Arg184Gln)
|
rs188852505
|
0.00044
|
|
NM_001291303.3(FAT4):c.2917G>A (p.Val973Ile)
|
rs199497561
|
0.00044
|
|
NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser)
|
rs149202369
|
0.00044
|
|
NM_001378183.1(PIEZO2):c.152C>T (p.Thr51Met)
|
rs371432372
|
0.00044
|
|
NM_001378778.1(MPDZ):c.2537C>G (p.Ser846Cys)
|
rs200553028
|
0.00044
|
|
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)
|
rs140250347
|
0.00044
|
|
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)
|
rs200901330
|
0.00044
|
|
NM_002700.3(POU4F3):c.230A>G (p.Asp77Gly)
|
rs138310635
|
0.00044
|
|
NM_002863.5(PYGL):c.147C>T (p.Thr49=)
|
rs139338050
|
0.00044
|
|
NM_003560.4(PLA2G6):c.966C>T (p.His322=)
|
rs144033740
|
0.00044
|
|
NM_003737.4(DCHS1):c.3764C>T (p.Thr1255Met)
|
rs147152025
|
0.00044
|
|
NM_003896.4(ST3GAL5):c.389C>T (p.Ala130Val)
|
rs140019292
|
0.00044
|
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00044
|
|
NM_005357.4(LIPE):c.998G>A (p.Arg333Gln)
|
rs112497256
|
0.00044
|
|
NM_006059.4(LAMC3):c.2238G>A (p.Ala746=)
|
rs141918703
|
0.00044
|
|
NM_006662.3(SRCAP):c.7853A>G (p.Asn2618Ser)
|
rs144476508
|
0.00044
|
|
NM_006892.4(DNMT3B):c.2529C>T (p.Phe843=)
|
rs147402935
|
0.00044
|
|
NM_014244.5(ADAMTS2):c.2892C>T (p.Pro964=)
|
rs546361762
|
0.00044
|
|
NM_015346.4(ZFYVE26):c.2799C>T (p.Leu933=)
|
rs146793500
|
0.00044
|
|
NM_016630.7(SPG21):c.846G>A (p.Ala282=)
|
rs146986015
|
0.00044
|
|
NM_017534.6(MYH2):c.1898-3C>T
|
rs370752980
|
0.00044
|
|
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His)
|
rs114371269
|
0.00044
|
|
NM_020987.5(ANK3):c.11678G>C (p.Ser3893Thr)
|
rs12260663
|
0.00044
|
|
NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu)
|
rs202101019
|
0.00044
|
|
NM_022124.6(CDH23):c.5038G>A (p.Val1680Ile)
|
rs201364852
|
0.00044
|
|
NM_025009.5(CEP135):c.700-10A>G
|
rs369136062
|
0.00044
|
|
NM_032228.6(FAR1):c.1077C>G (p.Ala359=)
|
rs146816221
|
0.00044
|
|
NM_032601.4(MCEE):c.66C>T (p.Pro22=)
|
rs151148238
|
0.00044
|
|
NM_080680.3(COL11A2):c.480T>G (p.Ser160=)
|
rs142969513
|
0.00044
|
|
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser)
|
rs35116188
|
0.00044
|
|
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu)
|
rs141360909
|
0.00044
|
|
NM_170682.4(P2RX2):c.947C>T (p.Thr316Met)
|
rs150293706
|
0.00044
|
|
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys)
|
rs147070644
|
0.00044
|
|
NM_198999.3(SLC26A5):c.2177C>T (p.Ala726Val)
|
rs150726851
|
0.00044
|
|
NM_206937.2(LIG4):c.13C>A (p.Gln5Lys)
|
rs143590752
|
0.00044
|
|
NM_207346.3(TSEN54):c.537G>A (p.Pro179=)
|
rs113016401
|
0.00044
|
|
NM_000081.4(LYST):c.692A>G (p.Gln231Arg)
|
rs147433918
|
0.00043
|
|
NM_000135.4(FANCA):c.3408+9C>G
|
rs377702890
|
0.00043
|
|
NM_000140.5(FECH):c.362A>G (p.Glu121Gly)
|
rs141813907
|
0.00043
|
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
|
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn)
|
rs187165412
|
0.00043
|
|
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)
|
rs370346797
|
0.00043
|
|
NM_000359.3(TGM1):c.1762G>A (p.Ala588Thr)
|
rs146728175
|
0.00043
|
|
NM_000540.3(RYR1):c.12203A>G (p.Lys4068Arg)
|
rs114009747
|
0.00043
|
|
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=)
|
rs146617004
|
0.00043
|
|
NM_001039.4(SCNN1G):c.1476A>G (p.Val492=)
|
rs146420892
|
0.00043
|
|
NM_001048166.1(STIL):c.3156C>T (p.Ser1052=)
|
rs113337758
|
0.00043
|
|
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=)
|
rs375811590
|
0.00043
|
|
NM_001235.5(SERPINH1):c.97G>C (p.Ala33Pro)
|
rs150061926
|
0.00043
|
|
NM_001270508.2(TNFAIP3):c.2231G>A (p.Gly744Asp)
|
rs150355046
|
0.00043
|
|
NM_001277115.2(DNAH11):c.569A>T (p.Tyr190Phe)
|
rs201793112
|
0.00043
|
|
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser)
|
rs142621386
|
0.00043
|
|
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu)
|
rs144705277
|
0.00043
|
|
NM_001363711.2(DUOX2):c.3103G>A (p.Val1035Met)
|
rs138774384
|
0.00043
|
|
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg)
|
rs145673747
|
0.00043
|
|
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser)
|
rs142718547
|
0.00043
|
|
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)
|
rs12877501
|
0.00043
|
|
NM_001852.4(COL9A2):c.376C>A (p.Pro126Thr)
|
rs146903539
|
0.00043
|
|
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn)
|
rs141481633
|
0.00043
|
|
NM_002204.4(ITGA3):c.3046-4G>A
|
rs368305833
|
0.00043
|
|
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly)
|
rs145947380
|
0.00043
|
|
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr)
|
rs144710810
|
0.00043
|
|
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser)
|
rs535980233
|
0.00043
|
|
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)
|
rs375891215
|
0.00043
|
|
NM_004625.4(WNT7A):c.1028C>T (p.Thr343Met)
|
rs140491601
|
0.00043
|
|
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val)
|
rs200225298
|
0.00043
|
|
NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu)
|
rs145814071
|
0.00043
|
|
NM_014714.4(IFT140):c.3684C>T (p.Ser1228=)
|
rs146464282
|
0.00043
|
|
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser)
|
rs172149856
|
0.00043
|
|
NM_020247.5(COQ8A):c.258A>C (p.Ala86=)
|
rs137872711
|
0.00043
|
|
NM_020987.5(ANK3):c.11366A>G (p.Asn3789Ser)
|
rs144123544
|
0.00043
|
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
0.00043
|
|
NM_024570.4(RNASEH2B):c.756A>G (p.Ser252=)
|
rs200721645
|
0.00043
|
|
NM_052813.5(CARD9):c.801C>T (p.Ser267=)
|
rs143884319
|
0.00043
|
|
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His)
|
rs200176373
|
0.00043
|
|
NM_144991.3(TSPEAR):c.791-14G>C
|
rs199699551
|
0.00043
|
|
NM_153766.3(KCNJ1):c.262A>G (p.Lys88Glu)
|
rs185212943
|
0.00043
|
|
NM_183357.3(ADCY5):c.910G>A (p.Ala304Thr)
|
rs138488088
|
0.00043
|
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
|
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)
|
rs141367100
|
0.00042
|
|
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu)
|
rs148225281
|
0.00042
|
|
NM_000360.4(TH):c.363G>A (p.Pro121=)
|
rs370429316
|
0.00042
|
|
NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile)
|
rs201085386
|
0.00042
|
|
NM_000540.3(RYR1):c.8671A>C (p.Lys2891Gln)
|
rs146793133
|
0.00042
|
|
NM_000540.3(RYR1):c.9385C>T (p.Leu3129Phe)
|
rs143445685
|
0.00042
|
|
NM_001114134.2(EPB42):c.2032A>G (p.Asn678Asp)
|
rs201674874
|
0.00042
|
|
NM_001164508.2(NEB):c.2107-8C>T
|
rs369441230
|
0.00042
|
|
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr)
|
rs138262189
|
0.00042
|
|
NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=)
|
rs369380330
|
0.00042
|
|
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)
|
rs144076460
|
0.00042
|
|
NM_001201543.2(FAM161A):c.1929A>G (p.Ser643=)
|
rs369633003
|
0.00042
|
|
NM_001277115.2(DNAH11):c.8521A>G (p.Ser2841Gly)
|
rs199789835
|
0.00042
|
|
NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val)
|
rs201685063
|
0.00042
|
|
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala)
|
rs140227610
|
0.00042
|
|
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055
|
0.00042
|
|
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His)
|
rs139964770
|
0.00042
|
|
NM_001378183.1(PIEZO2):c.8535A>G (p.Lys2845=)
|
rs149395405
|
0.00042
|
|
NM_001457.4(FLNB):c.7510G>A (p.Ala2504Thr)
|
rs148364272
|
0.00042
|
|
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu)
|
rs150681693
|
0.00042
|
|
NM_002335.4(LRP5):c.1585-9G>A
|
rs202067798
|
0.00042
|
|
NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val)
|
rs201852681
|
0.00042
|
|
NM_004415.4(DSP):c.3123C>T (p.Leu1041=)
|
rs149929637
|
0.00042
|
|
NM_004646.4(NPHS1):c.1620G>C (p.Ala540=)
|
rs375861433
|
0.00042
|
|
NM_005535.3(IL12RB1):c.1737G>A (p.Pro579=)
|
rs371461366
|
0.00042
|
|
NM_005609.4(PYGM):c.1692C>T (p.Phe564=)
|
rs116812032
|
0.00042
|
|
NM_006922.4(SCN3A):c.5469T>A (p.Pro1823=)
|
rs368608408
|
0.00042
|
|
NM_007347.5(AP4E1):c.258T>C (p.Tyr86=)
|
rs143624283
|
0.00042
|
|
NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val)
|
rs375935118
|
0.00042
|
|
NM_012310.5(KIF4A):c.2976+10T>A
|
rs376405554
|
0.00042
|
|
NM_014140.4(SMARCAL1):c.1727T>C (p.Ile576Thr)
|
rs138819354
|
0.00042
|
|
NM_014915.3(ANKRD26):c.4916G>A (p.Arg1639Gln)
|
rs184369322
|
0.00042
|
|
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)
|
rs201907325
|
0.00042
|
|
NM_017777.4(MKS1):c.118C>T (p.His40Tyr)
|
rs199832333
|
0.00042
|
|
NM_053025.4(MYLK):c.4195G>A (p.Glu1399Lys)
|
rs181663420
|
0.00042
|
|
NM_144672.4(OTOA):c.1173G>A (p.Ser391=)
|
rs143326637
|
0.00042
|
|
NM_144991.3(TSPEAR):c.418G>A (p.Ala140Thr)
|
rs148967240
|
0.00042
|
|
NM_152564.5(VPS13B):c.505C>A (p.Leu169Ile)
|
rs376498106
|
0.00042
|
|
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln)
|
rs146333270
|
0.00042
|
|
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)
|
rs142486910
|
0.00042
|
|
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu)
|
rs199842745
|
0.00042
|
|
NM_182760.4(SUMF1):c.519A>G (p.Ala173=)
|
rs146050361
|
0.00042
|
|
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser)
|
rs201176149
|
0.00042
|
|
NM_198129.4(LAMA3):c.8069A>G (p.Gln2690Arg)
|
rs147208526
|
0.00042
|
|
NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn)
|
rs199875471
|
0.00041
|
|
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)
|
rs113950465
|
0.00041
|
|
NM_000124.4(ERCC6):c.1145A>G (p.Glu382Gly)
|
rs56089364
|
0.00041
|
|
NM_000137.4(FAH):c.243G>A (p.Ala81=)
|
rs36122289
|
0.00041
|
|
NM_000293.3(PHKB):c.305+11G>T
|
rs368293023
|
0.00041
|
|
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu)
|
rs199473320
|
0.00041
|
|
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile)
|
rs45471994
|
0.00041
|
|
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=)
|
rs61754033
|
0.00041
|
|
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp)
|
rs138448968
|
0.00041
|
|
NM_000392.5(ABCC2):c.150C>T (p.His50=)
|
rs200595851
|
0.00041
|
|
NM_000396.4(CTSK):c.684C>T (p.Pro228=)
|
rs142097792
|
0.00041
|
|
NM_000492.3(CFTR):c.-448A>G
|
rs943663200
|
0.00041
|
|
NM_000518.4(HBB):c.-51T>C
|
rs386134236
|
0.00041
|
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00041
|
|
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser)
|
rs35874056
|
0.00041
|
|
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)
|
rs35297901
|
0.00041
|
|
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=)
|
rs147369374
|
0.00041
|
|
NM_001291303.3(FAT4):c.12647G>A (p.Arg4216His)
|
rs148170326
|
0.00041
|
|
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp)
|
rs377167949
|
0.00041
|
|
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu)
|
rs201466849
|
0.00041
|
|
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys)
|
rs189652973
|
0.00041
|
|
NM_001371333.1(DIABLO):c.19T>A (p.Trp7Arg)
|
rs139511903
|
0.00041
|
|
NM_001384474.1(LOXHD1):c.5237T>C (p.Leu1746Pro)
|
rs372241056
|
0.00041
|
|
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln)
|
rs192467838
|
0.00041
|
|
NM_002335.4(LRP5):c.2182A>T (p.Met728Leu)
|
rs149241739
|
0.00041
|
|
NM_002863.5(PYGL):c.1920G>A (p.Lys640=)
|
rs140296036
|
0.00041
|
|
NM_003331.5(TYK2):c.193+14G>A
|
rs199931972
|
0.00041
|
|
NM_003701.4(TNFSF11):c.591C>A (p.Ser197=)
|
rs151215329
|
0.00041
|
|
NM_003721.4(RFXANK):c.187+13C>T
|
rs201778172
|
0.00041
|
|
NM_004366.6(CLCN2):c.1969A>C (p.Thr657Pro)
|
rs149827415
|
0.00041
|
|
NM_004817.4(TJP2):c.918C>T (p.Ile306=)
|
rs374523970
|
0.00041
|
|
NM_005546.4(ITK):c.1455C>T (p.Ala485=)
|
rs201568204
|
0.00041
|
|
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn)
|
rs149029910
|
0.00041
|
|
NM_006231.4(POLE):c.3881G>A (p.Arg1294His)
|
rs115455318
|
0.00041
|
|
NM_006514.4(SCN10A):c.2441G>A (p.Arg814His)
|
rs139861061
|
0.00041
|
|
NM_006892.4(DNMT3B):c.1035C>T (p.Ile345=)
|
rs150148922
|
0.00041
|
|
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys)
|
rs370053399
|
0.00041
|
|
NM_007055.4(POLR3A):c.1910-13A>G
|
rs375882550
|
0.00041
|
|
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=)
|
rs143856702
|
0.00041
|
|
NM_014687.4(RUBCN):c.226C>T (p.Arg76Cys)
|
rs201775281
|
0.00041
|
|
NM_014727.3(KMT2B):c.3317G>A (p.Arg1106Gln)
|
rs201094135
|
0.00041
|
|
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)
|
rs141440865
|
0.00041
|
|
NM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys)
|
rs144781529
|
0.00041
|
|
NM_017777.4(MKS1):c.544G>A (p.Val182Ile)
|
rs200185068
|
0.00041
|
|
NM_017882.3(CLN6):c.822G>A (p.Ala274=)
|
rs151186473
|
0.00041
|
|
NM_018136.5(ASPM):c.7551T>C (p.Tyr2517=)
|
rs149228705
|
0.00041
|
|
NM_020117.11(LARS1):c.1369C>T (p.Arg457Trp)
|
rs151245897
|
0.00041
|
|
NM_020312.4(COQ9):c.26C>T (p.Ala9Val)
|
rs536567108
|
0.00041
|
|
NM_020442.6(VARS2):c.1691C>T (p.Ala564Val)
|
rs143408155
|
0.00041
|
|
NM_020461.4(TUBGCP6):c.161C>G (p.Thr54Ser)
|
rs139974572
|
0.00041
|
|
NM_024747.6(HPS6):c.2250G>A (p.Ser750=)
|
rs139161525
|
0.00041
|
|
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser)
|
rs148222901
|
0.00041
|
|
NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly)
|
rs199558186
|
0.00041
|
|
NM_030665.4(RAI1):c.1941C>T (p.Ser647=)
|
rs140198185
|
0.00041
|
|
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=)
|
rs146532299
|
0.00041
|
|
NM_032888.4(COL27A1):c.364C>T (p.Arg122Cys)
|
rs372265305
|
0.00041
|
|
NM_080680.3(COL11A2):c.1720-4G>T
|
rs369678506
|
0.00041
|
|
NM_130837.3(OPA1):c.2421G>T (p.Leu807=)
|
rs148047706
|
0.00041
|
|
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=)
|
rs34796823
|
0.00041
|
|
NM_139027.6(ADAMTS13):c.2936G>A (p.Arg979Gln)
|
rs142779872
|
0.00041
|
|
NM_139343.3(BIN1):c.1629T>G (p.Ala543=)
|
rs143258043
|
0.00041
|
|
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile)
|
rs140709787
|
0.00041
|
|
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp)
|
rs147903234
|
0.00041
|
|
NM_175914.5(HNF4A):c.726G>A (p.Val242=)
|
rs145280017
|
0.00041
|
|
NM_178857.6(RP1L1):c.487C>G (p.Arg163Gly)
|
rs187140236
|
0.00041
|
|
NM_206933.4(USH2A):c.10470G>T (p.Val3490=)
|
rs201401001
|
0.00041
|
|
NM_000029.4(AGT):c.127C>T (p.Leu43Phe)
|
rs41271499
|
0.00040
|
|
NM_000065.5(C6):c.186A>C (p.Glu62Asp)
|
rs200359838
|
0.00040
|
|
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys)
|
rs375510570
|
0.00040
|
|
NM_000298.6(PKLR):c.92C>T (p.Ala31Val)
|
rs150077703
|
0.00040
|
|
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)
|
rs150264233
|
0.00040
|
|
NM_000507.4(FBP1):c.670G>A (p.Val224Ile)
|
rs140222720
|
0.00040
|
|
NM_000527.5(LDLR):c.2055G>A (p.Pro685=)
|
rs149126953
|
0.00040
|
|
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser)
|
rs144907014
|
0.00040
|
|
NM_000787.4(DBH):c.849C>T (p.Cys283=)
|
rs78200745
|
0.00040
|
|
NM_000817.3(GAD1):c.682A>C (p.Ile228Leu)
|
rs45566933
|
0.00040
|
|
NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala)
|
rs144659635
|
0.00040
|
|
NM_001083961.2(WDR62):c.3058G>A (p.Ala1020Thr)
|
rs144120866
|
0.00040
|
|
NM_001142800.2(EYS):c.2598C>T (p.Cys866=)
|
rs183814213
|
0.00040
|
|
NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala)
|
rs375491094
|
0.00040
|
|
NM_001206999.2(CIT):c.1706A>C (p.Asn569Thr)
|
rs149250142
|
0.00040
|
|
NM_001291303.3(FAT4):c.13460C>T (p.Ala4487Val)
|
rs141234678
|
0.00040
|
|
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu)
|
rs201077964
|
0.00040
|
|
NM_001369268.1(ACAN):c.185C>A (p.Thr62Asn)
|
rs200239326
|
0.00040
|
|
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=)
|
rs368890059
|
0.00040
|
|
NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys)
|
rs144901788
|
0.00040
|
|
NM_002617.4(PEX10):c.816G>T (p.Leu272=)
|
rs144440263
|
0.00040
|
|
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu)
|
rs147948449
|
0.00040
|
|
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=)
|
rs201087979
|
0.00040
|
|
NM_004937.3(CTNS):c.561+4C>T
|
rs111256750
|
0.00040
|
|
NM_005445.4(SMC3):c.2535+15T>G
|
rs3818903
|
0.00040
|
|
NM_006231.4(POLE):c.2171C>T (p.Ala724Val)
|
rs61734163
|
0.00040
|
|
NM_014363.6(SACS):c.2602A>G (p.Ile868Val)
|
rs142284018
|
0.00040
|
|
NM_017534.6(MYH2):c.332C>T (p.Ala111Val)
|
rs140468333
|
0.00040
|
|
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser)
|
rs760039339
|
0.00040
|
|
NM_022124.6(CDH23):c.2128A>G (p.Ile710Val)
|
rs367750869
|
0.00040
|
|
NM_022367.4(SEMA4A):c.405T>C (p.Asn135=)
|
rs56271605
|
0.00040
|
|
NM_022464.5(SIL1):c.933G>A (p.Gly311=)
|
rs61744666
|
0.00040
|
|
NM_032531.4(KIRREL3):c.1395G>A (p.Ser465=)
|
rs138978113
|
0.00040
|
|
NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp)
|
rs147098410
|
0.00040
|
|
NM_052813.5(CARD9):c.12C>T (p.Tyr4=)
|
rs35051231
|
0.00040
|
|
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=)
|
rs139525746
|
0.00040
|
|
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser)
|
rs34447581
|
0.00040
|
|
NM_000017.4(ACADS):c.624+8C>T
|
rs371550264
|
0.00039
|
|
NM_000037.4(ANK1):c.2167C>A (p.His723Asn)
|
rs150899388
|
0.00039
|
|
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn)
|
rs200040980
|
0.00039
|
|
NM_000158.4(GBE1):c.1237-15C>T
|
rs376809475
|
0.00039
|
|
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn)
|
rs144949995
|
0.00039
|
|
NM_000195.5(HPS1):c.700C>T (p.Leu234=)
|
rs150444975
|
0.00039
|
|
NM_000235.4(LIPA):c.891C>T (p.Ser297=)
|
rs145066614
|
0.00039
|
|
NM_000350.3(ABCA4):c.5312+11T>C
|
rs769863517
|
0.00039
|
|
NM_000392.5(ABCC2):c.1007C>T (p.Thr336Met)
|
rs149854486
|
0.00039
|
|
NM_000399.5(EGR2):c.644C>T (p.Thr215Met)
|
rs139147487
|
0.00039
|
|
NM_000439.5(PCSK1):c.1096-10C>T
|
rs373951075
|
0.00039
|
|
NM_000518.5(HBB):c.316-96G>C
|
rs193922561
|
0.00039
|
|
NM_000642.3(AGL):c.2941A>G (p.Ile981Val)
|
rs148981763
|
0.00039
|
|
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser)
|
rs144536197
|
0.00039
|
|
NM_001031679.3(MSRB3):c.523G>A (p.Ala175Thr)
|
rs200201418
|
0.00039
|
|
NM_001034853.2(RPGR):c.1414+5C>T
|
rs367627674
|
0.00039
|
|
NM_001036.6(RYR3):c.8236A>G (p.Ile2746Val)
|
rs201914506
|
0.00039
|
|
NM_001039213.4(CEACAM16):c.869C>T (p.Thr290Met)
|
rs61729706
|
0.00039
|
|
NM_001080517.3(SETD5):c.3944C>T (p.Thr1315Met)
|
rs202179816
|
0.00039
|
|
NM_001126121.2(SLC25A19):c.750G>A (p.Glu250=)
|
rs147904037
|
0.00039
|
|
NM_001166114.2(PNPLA6):c.3003C>T (p.Gly1001=)
|
rs145459571
|
0.00039
|
|
NM_001276270.2(MBD4):c.1183+17A>G
|
rs199597858
|
0.00039
|
|
NM_001367624.2(ZNF469):c.2168G>C (p.Ser723Thr)
|
rs777747160
|
0.00039
|
|
NM_001367624.2(ZNF469):c.3278A>G (p.Asp1093Gly)
|
rs533979613
|
0.00039
|
|
NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met)
|
rs140345677
|
0.00039
|
|
NM_001369.3(DNAH5):c.6409C>A (p.Leu2137Ile)
|
rs181884470
|
0.00039
|
|
NM_001374736.1(DST):c.2125A>G (p.Met709Val)
|
rs142650835
|
0.00039
|
|
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=)
|
rs373707570
|
0.00039
|
|
NM_001378414.1(HDAC4):c.3220G>A (p.Ala1074Thr)
|
rs115552422
|
0.00039
|
|
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys)
|
rs192813057
|
0.00039
|
|
NM_001851.6(COL9A1):c.1130G>A (p.Arg377His)
|
rs142328549
|
0.00039
|
|
NM_001851.6(COL9A1):c.2436G>T (p.Gln812His)
|
rs141830060
|
0.00039
|
|
NM_001853.4(COL9A3):c.1602C>T (p.Ser534=)
|
rs146578812
|
0.00039
|
|
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr)
|
rs151249006
|
0.00039
|
|
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)
|
rs150485422
|
0.00039
|
|
NM_002098.6(GUCA1B):c.476-3C>T
|
rs200457582
|
0.00039
|
|
NM_002335.4(LRP5):c.4511C>T (p.Pro1504Leu)
|
rs201475647
|
0.00039
|
|
NM_003465.3(CHIT1):c.605+10A>T
|
rs368307246
|
0.00039
|
|
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)
|
rs146720775
|
0.00039
|
|
NM_004715.5(CTDP1):c.2395C>T (p.Arg799Cys)
|
rs148053048
|
0.00039
|
|
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)
|
rs141845119
|
0.00039
|
|
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln)
|
rs147286334
|
0.00039
|
|
NM_006005.3(WFS1):c.92C>G (p.Ala31Gly)
|
rs550975729
|
0.00039
|
|
NM_006121.4(KRT1):c.651G>C (p.Gln217His)
|
rs201584652
|
0.00039
|
|
NM_006420.3(ARFGEF2):c.1233C>T (p.Leu411=)
|
rs147617265
|
0.00039
|
|
NM_014141.6(CNTNAP2):c.1777+13T>G
|
rs188140291
|
0.00039
|
|
NM_014391.3(ANKRD1):c.818T>C (p.Met273Thr)
|
rs183061595
|
0.00039
|
|
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)
|
rs148604312
|
0.00039
|
|
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)
|
rs117861188
|
0.00039
|
|
NM_017668.3(NDE1):c.948-6833A>G
|
rs111858392
|
0.00039
|
|
NM_018668.5(VPS33B):c.1207T>C (p.Leu403=)
|
rs139655526
|
0.00039
|
|
NM_018896.5(CACNA1G):c.6710C>A (p.Pro2237His)
|
rs200141555
|
0.00039
|
|
NM_018979.4(WNK1):c.5050A>G (p.Ile1684Val)
|
rs770568108
|
0.00039
|
|
NM_019112.4(ABCA7):c.3641G>A (p.Trp1214Ter)
|
rs201060968
|
0.00039
|
|
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser)
|
rs148174226
|
0.00039
|
|
NM_022095.4(ZNF335):c.2185A>T (p.Ile729Phe)
|
rs190178539
|
0.00039
|
|
NM_022124.6(CDH23):c.2163C>T (p.Ile721=)
|
rs192326086
|
0.00039
|
|
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)
|
rs370906851
|
0.00039
|
|
NM_032119.4(ADGRV1):c.357+8C>T
|
rs376004946
|
0.00039
|
|
NM_032415.7(CARD11):c.2119C>T (p.Arg707Cys)
|
rs143049136
|
0.00039
|
|
NM_138694.4(PKHD1):c.12198C>T (p.His4066=)
|
rs147051900
|
0.00039
|
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
|
NM_138694.4(PKHD1):c.7215+13G>T
|
rs562612275
|
0.00039
|
|
NM_139027.6(ADAMTS13):c.415-5C>T
|
rs200230025
|
0.00039
|
|
NM_173076.3(ABCA12):c.5747C>T (p.Thr1916Ile)
|
rs373276045
|
0.00039
|
|
NM_178554.6(KY):c.988C>T (p.Pro330Ser)
|
rs201201519
|
0.00039
|
|
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=)
|
rs142858149
|
0.00039
|
|
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)
|
rs3218699
|
0.00038
|
|
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr)
|
rs61731996
|
0.00038
|
|
NM_000098.3(CPT2):c.1941G>A (p.Met647Ile)
|
rs78266699
|
0.00038
|
|
NM_000130.5(F5):c.1391C>T (p.Thr464Ile)
|
rs141768227
|
0.00038
|
|
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)
|
rs150728610
|
0.00038
|
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
|
NM_000213.5(ITGB4):c.1666C>T (p.Arg556Cys)
|
rs150166497
|
0.00038
|
|
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met)
|
rs199473600
|
0.00038
|
|
NM_000350.3(ABCA4):c.1240-8G>C
|
rs185225547
|
0.00038
|
|
NM_000392.5(ABCC2):c.3648C>A (p.Asn1216Lys)
|
rs144967259
|
0.00038
|
|
NM_000429.3(MAT1A):c.170-12G>A
|
rs200462189
|
0.00038
|
|
NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser)
|
rs145107955
|
0.00038
|
|
NM_000466.3(PEX1):c.1360-4G>T
|
rs199716270
|
0.00038
|
|
NM_000493.4(COL10A1):c.1927G>A (p.Asp643Asn)
|
rs201121404
|
0.00038
|
|
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)
|
rs199738299
|
0.00038
|
|
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)
|
rs140322984
|
0.00038
|
|
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)
|
rs200092869
|
0.00038
|
|
NM_001083961.2(WDR62):c.82C>T (p.Arg28Trp)
|
rs200283315
|
0.00038
|
|
NM_001128126.3(AP4S1):c.306+4191A>G
|
rs200969079
|
0.00038
|
|
NM_001145809.2(MYH14):c.4705G>T (p.Ala1569Ser)
|
rs145522874
|
0.00038
|
|
NM_001160372.4(TRAPPC9):c.2796C>T (p.Ala932=)
|
rs145607512
|
0.00038
|
|
NM_001174089.2(SLC4A11):c.893C>T (p.Ala298Val)
|
rs141705330
|
0.00038
|
|
NM_001199397.3(NEK1):c.3567C>T (p.Asn1189=)
|
rs200710438
|
0.00038
|
|
NM_001199799.2(ILDR1):c.686T>C (p.Leu229Pro)
|
rs546168333
|
0.00038
|
|
NM_001350451.2(RBFOX3):c.19C>T (p.Pro7Ser)
|
rs376060745
|
0.00038
|
|
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu)
|
rs147615538
|
0.00038
|
|
NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=)
|
rs201953670
|
0.00038
|
|
NM_001478.5(B4GALNT1):c.1144-7C>T
|
rs370107238
|
0.00038
|
|
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr)
|
rs150378645
|
0.00038
|
|
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)
|
rs141825182
|
0.00038
|
|
NM_003640.5(ELP1):c.2217A>G (p.Lys739=)
|
rs139583037
|
0.00038
|
|
NM_003737.4(DCHS1):c.5543C>G (p.Ala1848Gly)
|
rs145373149
|
0.00038
|
|
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)
|
rs587776399
|
0.00038
|
|
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
|
rs139461096
|
0.00038
|
|
NM_006348.5(COG5):c.1750-14T>G
|
rs199592702
|
0.00038
|
|
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=)
|
rs144028766
|
0.00038
|
|
NM_014855.3(AP5Z1):c.1806-15C>T
|
rs201620155
|
0.00038
|
|
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)
|
rs142303658
|
0.00038
|
|
NM_015965.7(NDUFA13):c.45C>A (p.Gly15=)
|
rs183288709
|
0.00038
|
|
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys)
|
rs147135294
|
0.00038
|
|
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro)
|
rs145677716
|
0.00038
|
|
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp)
|
rs145635235
|
0.00038
|
|
NM_019066.5(MAGEL2):c.41C>A (p.Pro14Gln)
|
rs769643348
|
0.00038
|
|
NM_020442.6(VARS2):c.2980A>G (p.Ile994Val)
|
rs201758263
|
0.00038
|
|
NM_021098.3(CACNA1H):c.2146G>A (p.Gly716Ser)
|
rs187225648
|
0.00038
|
|
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)
|
rs371522435
|
0.00038
|
|
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=)
|
rs141016088
|
0.00038
|
|
NM_032607.3(CREB3L3):c.732dup (p.Lys245fs)
|
rs780374391
|
0.00038
|
|
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp)
|
rs61744448
|
0.00038
|
|
NM_080911.3(UNG):c.183G>A (p.Pro61=)
|
rs147490205
|
0.00038
|
|
NM_138694.4(PKHD1):c.1234-9T>C
|
rs200707468
|
0.00038
|
|
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)
|
rs143737660
|
0.00038
|
|
NM_144628.4(TBC1D20):c.1143G>A (p.Ala381=)
|
rs141648576
|
0.00038
|
|
NM_152383.5(DIS3L2):c.1205-13C>T
|
rs116327839
|
0.00038
|
|
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val)
|
rs199743242
|
0.00038
|
|
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu)
|
rs141972928
|
0.00038
|
|
NM_000027.4(AGA):c.885G>A (p.Lys295=)
|
rs34019119
|
0.00037
|
|
NM_000096.4(CP):c.938C>T (p.Thr313Ile)
|
rs144401501
|
0.00037
|
|
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val)
|
rs142217479
|
0.00037
|
|
NM_000154.2(GALK1):c.747G>A (p.Ala249=)
|
rs140053358
|
0.00037
|
|
NM_000320.3(QDPR):c.450C>T (p.Tyr150=)
|
rs140949360
|
0.00037
|
|
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)
|
rs143263315
|
0.00037
|
|
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile)
|
rs201905280
|
0.00037
|
|
NM_000525.4(KCNJ11):c.37G>A (p.Val13Met)
|
rs139079635
|
0.00037
|
|
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr)
|
rs151119428
|
0.00037
|
|
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)
|
rs540805431
|
0.00037
|
|
NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp)
|
rs144995033
|
0.00037
|
|
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=)
|
rs148055736
|
0.00037
|
|
NM_001142800.2(EYS):c.2553C>T (p.Asn851=)
|
rs771641817
|
0.00037
|
|
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp)
|
rs201515738
|
0.00037
|
|
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met)
|
rs145672251
|
0.00037
|
|
NM_001854.4(COL11A1):c.892A>G (p.Thr298Ala)
|
rs144966407
|
0.00037
|
|
NM_002427.4(MMP13):c.438C>T (p.Ser146=)
|
rs17860530
|
0.00037
|
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
|
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile)
|
rs150306543
|
0.00037
|
|
NM_003126.4(SPTA1):c.1351-4A>G
|
rs200868774
|
0.00037
|
|
NM_003977.4(AIP):c.26G>A (p.Arg9Gln)
|
rs139459091
|
0.00037
|
|
NM_005535.3(IL12RB1):c.261C>T (p.Cys87=)
|
rs373545812
|
0.00037
|
|
NM_005876.5(SPEG):c.1649C>T (p.Pro550Leu)
|
rs747464249
|
0.00037
|
|
NM_006059.4(LAMC3):c.1019G>A (p.Arg340Gln)
|
rs149004188
|
0.00037
|
|
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln)
|
rs190386780
|
0.00037
|
|
NM_018648.4(NOP10):c.55-9C>T
|
rs72720799
|
0.00037
|
|
NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln)
|
rs114545628
|
0.00037
|
|
NM_020884.7(MYH7B):c.3440C>T (p.Ala1147Val)
|
rs374221267
|
0.00037
|
|
NM_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr)
|
rs143834546
|
0.00037
|
|
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg)
|
rs41313952
|
0.00037
|
|
NM_025114.4(CEP290):c.943-4C>T
|
rs199770158
|
0.00037
|
|
NM_138694.4(PKHD1):c.5381-12T>C
|
rs143682303
|
0.00037
|
|
NM_173076.3(ABCA12):c.2945A>C (p.Lys982Thr)
|
rs142196906
|
0.00037
|
|
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser)
|
rs200319405
|
0.00037
|
|
NM_000026.4(ADSL):c.363G>A (p.Leu121=)
|
rs138203195
|
0.00036
|
|
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=)
|
rs143139259
|
0.00036
|
|
NM_000135.4(FANCA):c.3981C>T (p.His1327=)
|
rs141278771
|
0.00036
|
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00036
|
|
NM_000211.5(ITGB2):c.2145C>T (p.Ile715=)
|
rs144590448
|
0.00036
|
|
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val)
|
rs137958217
|
0.00036
|
|
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His)
|
rs781991817
|
0.00036
|
|
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)
|
rs202245413
|
0.00036
|
|
NM_000260.4(MYO7A):c.6615G>A (p.Met2205Ile)
|
rs200359303
|
0.00036
|
|
NM_000277.3(PAH):c.609C>T (p.Cys203=)
|
rs1801147
|
0.00036
|
|
NM_000282.4(PCCA):c.2055A>G (p.Gln685=)
|
rs147568036
|
0.00036
|
|
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu)
|
rs140196414
|
0.00036
|
|
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val)
|
rs145728297
|
0.00036
|
|
NM_000419.5(ITGA2B):c.487T>C (p.Leu163=)
|
rs141497408
|
0.00036
|
|
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp)
|
rs115872852
|
0.00036
|
|
NM_000463.3(UGT1A1):c.159G>A (p.Arg53=)
|
rs149071335
|
0.00036
|
|
NM_000540.3(RYR1):c.11439+9G>A
|
rs369650355
|
0.00036
|
|
NM_000751.3(CHRND):c.198+14C>T
|
rs199538903
|
0.00036
|
|
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu)
|
rs146509445
|
0.00036
|
|
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=)
|
rs188888939
|
0.00036
|
|
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=)
|
rs104895260
|
0.00036
|
|
NM_001126108.2(SLC12A3):c.2363C>T (p.Ala788Val)
|
rs147517227
|
0.00036
|
|
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His)
|
rs115066564
|
0.00036
|
|
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr)
|
rs144474773
|
0.00036
|
|
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=)
|
rs145412880
|
0.00036
|
|
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu)
|
rs371951525
|
0.00036
|
|
NM_001170629.2(CHD8):c.4304A>T (p.His1435Leu)
|
rs199879706
|
0.00036
|
|
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His)
|
rs201604061
|
0.00036
|
|
NM_001247997.2(CLIP1):c.2571A>G (p.Lys857=)
|
rs34177347
|
0.00036
|
|
NM_001277115.2(DNAH11):c.6302A>G (p.Asn2101Ser)
|
rs201618995
|
0.00036
|
|
NM_001277115.2(DNAH11):c.9022A>G (p.Ile3008Val)
|
rs369862935
|
0.00036
|
|
NM_001291303.3(FAT4):c.12066C>T (p.Gly4022=)
|
rs144476127
|
0.00036
|
|
NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys)
|
rs140148322
|
0.00036
|
|
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
|
rs74574054
|
0.00036
|
|
NM_001355436.2(SPTB):c.4001C>T (p.Ala1334Val)
|
rs113139501
|
0.00036
|
|
NM_001371986.1(UNC80):c.2534C>T (p.Thr845Ile)
|
rs372195299
|
0.00036
|
|
NM_001374828.1(ARID1B):c.927C>T (p.Ala309=)
|
rs1450163641
|
0.00036
|
|
NM_001378414.1(HDAC4):c.2190G>A (p.Thr730=)
|
rs149067286
|
0.00036
|
|
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe)
|
rs192499639
|
0.00036
|
|
NM_001393500.2(TOMT):c.596C>T (p.Ala199Val)
|
rs540371915
|
0.00036
|
|
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His)
|
rs149558726
|
0.00036
|
|
NM_001876.4(CPT1A):c.930G>C (p.Arg310=)
|
rs147373480
|
0.00036
|
|
NM_001887.4(CRYBB1):c.744A>G (p.Thr248=)
|
rs142495368
|
0.00036
|
|
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys)
|
rs762630777
|
0.00036
|
|
NM_001953.5(TYMP):c.995C>T (p.Ala332Val)
|
rs778306525
|
0.00036
|
|
NM_002335.4(LRP5):c.144C>T (p.Ala48=)
|
rs776920568
|
0.00036
|
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
|
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His)
|
rs200069356
|
0.00036
|
|
NM_002857.4(PEX19):c.402T>C (p.Ser134=)
|
rs139828188
|
0.00036
|
|
NM_003383.5(VLDLR):c.792C>T (p.Cys264=)
|
rs141850403
|
0.00036
|
|
NM_003737.4(DCHS1):c.6133C>T (p.Arg2045Cys)
|
rs147594191
|
0.00036
|
|
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=)
|
rs201881755
|
0.00036
|
|
NM_003850.3(SUCLA2):c.1350G>A (p.Ala450=)
|
rs144969057
|
0.00036
|
|
NM_004937.3(CTNS):c.94G>A (p.Val32Ile)
|
rs146684402
|
0.00036
|
|
NM_005138.3(SCO2):c.237G>A (p.Arg79=)
|
rs150485659
|
0.00036
|
|
NM_005199.5(CHRNG):c.507-12G>A
|
rs184423691
|
0.00036
|
|
NM_006348.5(COG5):c.264A>G (p.Ala88=)
|
rs113660545
|
0.00036
|
|
NM_006922.4(SCN3A):c.3087C>G (p.Ala1029=)
|
rs143360102
|
0.00036
|
|
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu)
|
rs139131485
|
0.00036
|
|
NM_014141.6(CNTNAP2):c.3247+15A>G
|
rs201602527
|
0.00036
|
|
NM_014780.5(CUL7):c.3432G>A (p.Thr1144=)
|
rs144556973
|
0.00036
|
|
NM_014844.5(TECPR2):c.516A>G (p.Pro172=)
|
rs142385149
|
0.00036
|
|
NM_016123.4(IRAK4):c.720T>C (p.Cys240=)
|
rs144854858
|
0.00036
|
|
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu)
|
rs201689819
|
0.00036
|
|
NM_017654.4(SAMD9):c.4673T>A (p.Leu1558Ter)
|
rs150862618
|
0.00036
|
|
NM_018136.5(ASPM):c.6702A>G (p.Gln2234=)
|
rs142587742
|
0.00036
|
|
NM_018451.5(CENPJ):c.1513G>A (p.Glu505Lys)
|
rs145679691
|
0.00036
|
|
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys)
|
rs75262191
|
0.00036
|
|
NM_021098.3(CACNA1H):c.809A>C (p.Asn270Thr)
|
rs200520956
|
0.00036
|
|
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu)
|
rs150654176
|
0.00036
|
|
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)
|
rs150890296
|
0.00036
|
|
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=)
|
rs146046068
|
0.00036
|
|
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln)
|
rs28932180
|
0.00036
|
|
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)
|
rs145602856
|
0.00036
|
|
NM_024577.4(SH3TC2):c.2552G>A (p.Arg851Gln)
|
rs751621364
|
0.00036
|
|
NM_025099.6(CTC1):c.1734C>T (p.Ala578=)
|
rs374985738
|
0.00036
|
|
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)
|
rs201569048
|
0.00036
|
|
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)
|
rs200789563
|
0.00036
|
|
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=)
|
rs376636949
|
0.00036
|
|
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)
|
rs200792658
|
0.00036
|
|
NM_033004.4(NLRP1):c.103A>G (p.Arg35Gly)
|
rs201788309
|
0.00036
|
|
NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn)
|
rs148626512
|
0.00036
|
|
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)
|
rs45627337
|
0.00036
|
|
NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys)
|
rs145825553
|
0.00036
|
|
NM_139027.6(ADAMTS13):c.1810G>A (p.Val604Ile)
|
rs34256013
|
0.00036
|
|
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser)
|
rs147342579
|
0.00036
|
|
NM_182914.3(SYNE2):c.13156C>G (p.Gln4386Glu)
|
rs140277551
|
0.00036
|
|
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met)
|
rs200191563
|
0.00036
|
|
NM_194248.3(OTOF):c.5292-9C>T
|
rs372713647
|
0.00036
|
|
NM_194248.3(OTOF):c.748C>T (p.Arg250Trp)
|
rs373680242
|
0.00036
|
|
NM_198129.4(LAMA3):c.5621T>C (p.Leu1874Ser)
|
rs139348197
|
0.00036
|
|
NM_000037.4(ANK1):c.229-11A>G
|
rs372152994
|
0.00035
|
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
|
NM_000130.5(F5):c.4835A>T (p.Asp1612Val)
|
rs141589936
|
0.00035
|
|
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)
|
rs143642304
|
0.00035
|
|
NM_000208.4(INSR):c.151G>A (p.Glu51Lys)
|
rs140852238
|
0.00035
|
|
NM_000211.5(ITGB2):c.742-15A>G
|
rs199665785
|
0.00035
|
|
NM_000233.4(LHCGR):c.430G>A (p.Val144Ile)
|
rs121912539
|
0.00035
|
|
NM_000243.3(MEFV):c.372C>T (p.Pro124=)
|
rs104895078
|
0.00035
|
|
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser)
|
rs117966637
|
0.00035
|
|
NM_000260.4(MYO7A):c.849+7C>G
|
rs370740228
|
0.00035
|
|
NM_000282.4(PCCA):c.2037C>T (p.Asp679=)
|
rs146870931
|
0.00035
|
|
NM_000303.3(PMM2):c.713G>A (p.Arg238His)
|
rs151319324
|
0.00035
|
|
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys)
|
rs150851401
|
0.00035
|
|
NM_000521.4(HEXB):c.1248G>A (p.Ala416=)
|
rs137915238
|
0.00035
|
|
NM_000540.3(RYR1):c.2658C>T (p.Ile886=)
|
rs148094797
|
0.00035
|
|
NM_000545.8(HNF1A):c.1501+6C>T
|
rs374306837
|
0.00035
|
|
NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile)
|
rs142124529
|
0.00035
|
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
|
NM_001080414.4(CCDC88C):c.4375G>A (p.Asp1459Asn)
|
rs78570354
|
0.00035
|
|
NM_001080517.3(SETD5):c.2866A>T (p.Thr956Ser)
|
rs201868415
|
0.00035
|
|
NM_001083116.3(PRF1):c.1140G>A (p.Pro380=)
|
rs144926997
|
0.00035
|
|
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr)
|
rs142454476
|
0.00035
|
|
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg)
|
rs201714437
|
0.00035
|
|
NM_001171.6(ABCC6):c.2602G>A (p.Gly868Arg)
|
rs114349489
|
0.00035
|
|
NM_001193315.2(VIPAS39):c.558A>G (p.Glu186=)
|
rs148623263
|
0.00035
|
|
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp)
|
rs78644690
|
0.00035
|
|
NM_001242957.3(MAK):c.1405G>A (p.Glu469Lys)
|
rs149006687
|
0.00035
|
|
NM_001277115.2(DNAH11):c.6274-5T>C
|
rs74365849
|
0.00035
|
|
NM_001286577.2(C2CD3):c.6833A>G (p.Asn2278Ser)
|
rs199993353
|
0.00035
|
|
NM_001291303.3(FAT4):c.5367C>T (p.Ile1789=)
|
rs144922340
|
0.00035
|
|
NM_001291303.3(FAT4):c.5552C>T (p.Pro1851Leu)
|
rs138655912
|
0.00035
|
|
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=)
|
rs112536447
|
0.00035
|
|
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)
|
rs564040169
|
0.00035
|
|
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=)
|
rs12246234
|
0.00035
|
|
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu)
|
rs139859950
|
0.00035
|
|
NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser)
|
rs142693704
|
0.00035
|
|
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn)
|
rs150024227
|
0.00035
|
|
NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg)
|
rs185171880
|
0.00035
|
|
NM_005002.5(NDUFA9):c.809G>A (p.Arg270Gln)
|
rs200750609
|
0.00035
|
|
NM_005228.5(EGFR):c.769G>A (p.Glu257Lys)
|
rs138847501
|
0.00035
|
|
NM_005245.4(FAT1):c.10930G>A (p.Ala3644Thr)
|
rs199663111
|
0.00035
|
|
NM_006019.4(TCIRG1):c.1096C>T (p.Arg366Cys)
|
rs148619884
|
0.00035
|
|
NM_007374.3(SIX6):c.637C>T (p.Pro213Ser)
|
rs201560655
|
0.00035
|
|
NM_014290.3(TDRD7):c.2079+7C>T
|
rs201253435
|
0.00035
|
|
NM_014915.3(ANKRD26):c.2855A>C (p.Lys952Thr)
|
rs564448342
|
0.00035
|
|
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile)
|
rs142907547
|
0.00035
|
|
NM_017433.5(MYO3A):c.1248A>G (p.Gln416=)
|
rs143749728
|
0.00035
|
|
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)
|
rs138000380
|
0.00035
|
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
|
NM_022437.3(ABCG8):c.729C>T (p.Leu243=)
|
rs145482605
|
0.00035
|
|
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu)
|
rs201388114
|
0.00035
|
|
NM_052813.5(CARD9):c.406C>T (p.Leu136=)
|
rs143393026
|
0.00035
|
|
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys)
|
rs144042993
|
0.00035
|
|
NM_139027.6(ADAMTS13):c.427A>G (p.Ile143Val)
|
rs145175796
|
0.00035
|
|
NM_194248.3(OTOF):c.2650G>A (p.Ala884Thr)
|
rs144594692
|
0.00035
|
|
NM_194248.3(OTOF):c.898-6C>G
|
rs199687628
|
0.00035
|
|
NM_194292.3(SASS6):c.1773-4T>G
|
rs372605834
|
0.00035
|
|
NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln)
|
rs138993311
|
0.00035
|
|
NM_201525.4(ADGRG1):c.1356G>A (p.Thr452=)
|
rs151020094
|
0.00035
|
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00034
|
|
NM_000070.3(CAPN3):c.246G>A (p.Pro82=)
|
rs146529432
|
0.00034
|
|
NM_000081.4(LYST):c.2946T>C (p.Tyr982=)
|
rs145892183
|
0.00034
|
|
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys)
|
rs144557024
|
0.00034
|
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
|
NM_000199.5(SGSH):c.144G>A (p.Pro48=)
|
rs145970971
|
0.00034
|
|
NM_000222.3(KIT):c.878A>G (p.Asn293Ser)
|
rs137909416
|
0.00034
|
|
NM_000243.3(MEFV):c.1344A>C (p.Ala448=)
|
rs143337771
|
0.00034
|
|
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)
|
rs142352887
|
0.00034
|
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
|
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser)
|
rs200840044
|
0.00034
|
|
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser)
|
rs201251963
|
0.00034
|
|
NM_000260.4(MYO7A):c.687C>T (p.Gly229=)
|
rs371142158
|
0.00034
|
|
NM_000271.5(NPC1):c.1937G>A (p.Arg646His)
|
rs112387560
|
0.00034
|
|
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=)
|
rs137869198
|
0.00034
|
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
|
NM_000350.3(ABCA4):c.4401C>T (p.Ser1467=)
|
rs188775667
|
0.00034
|
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
|
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg)
|
rs149529997
|
0.00034
|
|
NM_000441.1(SLC26A4):c.-60A>G
|
rs545973091
|
0.00034
|
|
NM_000466.3(PEX1):c.2584-9del
|
rs886062504
|
0.00034
|
|
NM_000540.3(RYR1):c.10938-9C>T
|
rs201976186
|
0.00034
|
|
NM_000660.7(TGFB1):c.887G>A (p.Arg296Gln)
|
rs200164212
|
0.00034
|
|
NM_000787.4(DBH):c.1025-6T>A
|
rs199926239
|
0.00034
|
|
NM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys)
|
rs201117318
|
0.00034
|
|
NM_001114753.3(ENG):c.1447G>A (p.Val483Ile)
|
rs141330288
|
0.00034
|
|
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)
|
rs150932144
|
0.00034
|
|
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=)
|
rs41276445
|
0.00034
|
|
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His)
|
rs150139276
|
0.00034
|
|
NM_001160372.4(TRAPPC9):c.3356G>A (p.Arg1119Gln)
|
rs145503551
|
0.00034
|
|
NM_001277115.2(DNAH11):c.1749T>A (p.Val583=)
|
rs368294823
|
0.00034
|
|
NM_001288705.3(CSF1R):c.1799C>T (p.Thr600Met)
|
rs200788902
|
0.00034
|
|
NM_001291303.3(FAT4):c.10570C>T (p.Arg3524Trp)
|
rs145569482
|
0.00034
|
|
NM_001291303.3(FAT4):c.5054G>A (p.Arg1685Gln)
|
rs376422522
|
0.00034
|
|
NM_001365088.1(SLC12A6):c.1250A>G (p.Asn417Ser)
|
rs199945338
|
0.00034
|
|
NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val)
|
rs199503535
|
0.00034
|
|
NM_001395413.1(POR):c.1095G>A (p.Thr365=)
|
rs150414675
|
0.00034
|
|
NM_001457.4(FLNB):c.6515G>A (p.Arg2172His)
|
rs139846706
|
0.00034
|
|
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=)
|
rs202132383
|
0.00034
|
|
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr)
|
rs375998236
|
0.00034
|
|
NM_002906.4(RDX):c.1345-7T>C
|
rs142161673
|
0.00034
|
|
NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val)
|
rs201801144
|
0.00034
|
|
NM_003722.5(TP63):c.678C>T (p.Arg226=)
|
rs61732782
|
0.00034
|
|
NM_003742.4(ABCB11):c.930C>T (p.Phe310=)
|
rs372382608
|
0.00034
|
|
NM_003977.4(AIP):c.517G>A (p.Glu173Lys)
|
rs138902236
|
0.00034
|
|
NM_004092.4(ECHS1):c.519G>A (p.Ala173=)
|
rs140262395
|
0.00034
|
|
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys)
|
rs113967308
|
0.00034
|
|
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp)
|
rs147219158
|
0.00034
|
|
NM_004994.3(MMP9):c.1591C>T (p.Leu531=)
|
rs141884644
|
0.00034
|
|
NM_005546.4(ITK):c.138+13T>C
|
rs200603754
|
0.00034
|
|
NM_005609.4(PYGM):c.1160G>A (p.Arg387His)
|
rs200357590
|
0.00034
|
|
NM_005677.4(COLQ):c.561C>T (p.Ser187=)
|
rs149370622
|
0.00034
|
|
NM_006180.6(NTRK2):c.1195+9C>T
|
rs201773066
|
0.00034
|
|
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr)
|
rs113998091
|
0.00034
|
|
NM_006767.4(LZTR1):c.2190C>T (p.Gly730=)
|
rs144092577
|
0.00034
|
|
NM_006790.3(MYOT):c.120T>A (p.Ile40=)
|
rs139254363
|
0.00034
|
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
|
NM_014208.3(DSPP):c.85G>A (p.Glu29Lys)
|
rs200641947
|
0.00034
|
|
NM_014714.4(IFT140):c.369+12C>T
|
rs192986766
|
0.00034
|
|
NM_014727.3(KMT2B):c.5723C>G (p.Ala1908Gly)
|
rs373355746
|
0.00034
|
|
NM_014780.5(CUL7):c.2682T>C (p.Ala894=)
|
rs138043979
|
0.00034
|
|
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)
|
rs143661911
|
0.00034
|
|
NM_015909.4(NBAS):c.5984G>A (p.Arg1995Gln)
|
rs140373332
|
0.00034
|
|
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser)
|
rs201540919
|
0.00034
|
|
NM_017668.3(NDE1):c.948-9293G>A
|
rs374454501
|
0.00034
|
|
NM_018109.4(MTPAP):c.1607C>G (p.Pro536Arg)
|
rs147174746
|
0.00034
|
|
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala)
|
rs139589527
|
0.00034
|
|
NM_018942.3(HMX1):c.964G>C (p.Gly322Arg)
|
rs763505877
|
0.00034
|
|
NM_020223.4(FAM20C):c.1152C>T (p.Ile384=)
|
rs373614292
|
0.00034
|
|
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys)
|
rs114719193
|
0.00034
|
|
NM_022124.6(CDH23):c.9617G>A (p.Arg3206His)
|
rs374156784
|
0.00034
|
|
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr)
|
rs149692177
|
0.00034
|
|
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu)
|
rs34925776
|
0.00034
|
|
NM_024996.7(GFM1):c.2143A>G (p.Met715Val)
|
rs147620098
|
0.00034
|
|
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg)
|
rs190988309
|
0.00034
|
|
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)
|
rs201391886
|
0.00034
|
|
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys)
|
rs151282801
|
0.00034
|
|
NM_032620.4(GTPBP3):c.565C>T (p.Arg189Cys)
|
rs141865220
|
0.00034
|
|
NM_052859.4(RFT1):c.1356C>T (p.Arg452=)
|
rs113829901
|
0.00034
|
|
NM_052989.3(IFT122):c.1553G>A (p.Arg518His)
|
rs138223055
|
0.00034
|
|
NM_080669.6(SLC46A1):c.1256A>G (p.Asn419Ser)
|
rs141992236
|
0.00034
|
|
NM_144991.3(TSPEAR):c.419C>A (p.Ala140Asp)
|
rs147904376
|
0.00034
|
|
NM_152564.5(VPS13B):c.10867+11A>G
|
rs376656751
|
0.00034
|
|
NM_152743.4(BRAT1):c.955G>A (p.Val319Ile)
|
rs140903769
|
0.00034
|
|
NM_153033.5(KCTD7):c.273C>T (p.Ser91=)
|
rs139585796
|
0.00034
|
|
NM_199242.3(UNC13D):c.444G>A (p.Gly148=)
|
rs373551579
|
0.00034
|
|
NM_212482.4(FN1):c.6047C>T (p.Pro2016Leu)
|
rs139452116
|
0.00034
|
|
NM_000059.4(BRCA2):c.10095_10096insT (p.Ser3366Ter)
|
rs730881599
|
0.00033
|
|
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser)
|
rs188766510
|
0.00033
|
|
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=)
|
rs139869965
|
0.00033
|
|
NM_000327.4(ROM1):c.339dup (p.Leu114fs)
|
rs71458427
|
0.00033
|
|
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr)
|
rs369704754
|
0.00033
|
|
NM_000447.3(PSEN2):c.690C>G (p.Ala230=)
|
rs145010538
|
0.00033
|
|
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)
|
rs147723844
|
0.00033
|
|
NM_000639.3(FASLG):c.280T>G (p.Leu94Val)
|
rs56302117
|
0.00033
|
|
NM_000785.4(CYP27B1):c.1505A>G (p.Asn502Ser)
|
rs201629800
|
0.00033
|
|
NM_001008215.3(COA5):c.26C>T (p.Pro9Leu)
|
rs11537555
|
0.00033
|
|
NM_001061.7(TBXAS1):c.734A>G (p.Asn245Ser)
|
rs55856189
|
0.00033
|
|
NM_001080517.3(SETD5):c.2006G>C (p.Gly669Ala)
|
rs199595728
|
0.00033
|
|
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys)
|
rs121912712
|
0.00033
|
|
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)
|
rs145272777
|
0.00033
|
|
NM_001145809.2(MYH14):c.1427G>A (p.Arg476His)
|
rs375694189
|
0.00033
|
|
NM_001291303.3(FAT4):c.4432A>C (p.Ile1478Leu)
|
rs200565115
|
0.00033
|
|
NM_001291303.3(FAT4):c.5597C>T (p.Thr1866Met)
|
rs141773516
|
0.00033
|
|
NM_001292063.2(OTOG):c.1984C>T (p.Pro662Ser)
|
rs547173007
|
0.00033
|
|
NM_002076.4(GNS):c.4C>T (p.Arg2Trp)
|
rs200441930
|
0.00033
|
|
NM_002336.3(LRP6):c.3380A>G (p.Glu1127Gly)
|
rs560813860
|
0.00033
|
|
NM_002427.4(MMP13):c.509A>C (p.Lys170Thr)
|
rs145243532
|
0.00033
|
|
NM_003764.4(STX11):c.589G>A (p.Val197Met)
|
rs141499372
|
0.00033
|
|
NM_005045.4(RELN):c.877G>A (p.Asp293Asn)
|
rs200289289
|
0.00033
|
|
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser)
|
rs138843691
|
0.00033
|
|
NM_006086.4(TUBB3):c.507C>T (p.Val169=)
|
rs373718068
|
0.00033
|
|
NM_006514.4(SCN10A):c.281T>G (p.Val94Gly)
|
rs202143516
|
0.00033
|
|
NM_007055.4(POLR3A):c.1729G>A (p.Glu577Lys)
|
rs151084236
|
0.00033
|
|
NM_014290.3(TDRD7):c.444C>T (p.Asn148=)
|
rs144510531
|
0.00033
|
|
NM_015166.4(MLC1):c.598-9C>T
|
rs200463656
|
0.00033
|
|
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys)
|
rs368682932
|
0.00033
|
|
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser)
|
rs146693681
|
0.00033
|
|
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys)
|
rs146661281
|
0.00033
|
|
NM_017654.4(SAMD9):c.2845G>T (p.Ala949Ser)
|
rs151038564
|
0.00033
|
|
NM_020928.2(ZSWIM6):c.82A>G (p.Ser28Gly)
|
rs1456197449
|
0.00033
|
|
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)
|
rs145068570
|
0.00033
|
|
NM_021999.5(ITM2B):c.774T>C (p.Phe258=)
|
rs144217555
|
0.00033
|
|
NM_022132.5(MCCC2):c.738+9A>G
|
rs776559643
|
0.00033
|
|
NM_024513.4(FYCO1):c.4321C>A (p.Pro1441Thr)
|
rs185127002
|
0.00033
|
|
NM_032119.4(ADGRV1):c.5387C>G (p.Ser1796Cys)
|
rs770897158
|
0.00033
|
|
NM_032409.3(PINK1):c.1728A>G (p.Ser576=)
|
rs149994404
|
0.00033
|
|
NM_032737.4(LMNB2):c.574G>T (p.Ala192Ser)
|
rs112419003
|
0.00033
|
|
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys)
|
rs149553146
|
0.00033
|
|
NM_153006.3(NAGS):c.246G>A (p.Pro82=)
|
rs747154237
|
0.00033
|
|
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly)
|
rs373726507
|
0.00033
|
|
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu)
|
rs147879224
|
0.00033
|
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
|
NM_000035.4(ALDOB):c.681C>T (p.Thr227=)
|
rs61757689
|
0.00032
|
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
|
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=)
|
rs201989155
|
0.00032
|
|
NM_000145.4(FSHR):c.1330G>A (p.Ala444Thr)
|
rs202162496
|
0.00032
|
|
NM_000199.5(SGSH):c.89-4G>A
|
rs375536965
|
0.00032
|
|
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)
|
rs104895155
|
0.00032
|
|
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val)
|
rs199561332
|
0.00032
|
|
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=)
|
rs377388669
|
0.00032
|
|
NM_000312.4(PROC):c.1299C>T (p.Gly433=)
|
rs151319700
|
0.00032
|
|
NM_000392.5(ABCC2):c.339G>A (p.Leu113=)
|
rs151304543
|
0.00032
|
|
NM_000410.4(HFE):c.68G>A (p.Arg23His)
|
rs148161858
|
0.00032
|
|
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly)
|
rs182452430
|
0.00032
|
|
NM_001127178.3(PIGG):c.2053G>A (p.Gly685Ser)
|
rs200770933
|
0.00032
|
|
NM_001127453.2(GSDME):c.712C>T (p.Arg238Ter)
|
rs200758965
|
0.00032
|
|
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn)
|
rs58528748
|
0.00032
|
|
NM_001256545.2(MEGF10):c.1841-5T>C
|
rs372378202
|
0.00032
|
|
NM_001256789.3(CACNA1F):c.904C>T (p.Arg302Cys)
|
rs139612152
|
0.00032
|
|
NM_001277115.2(DNAH11):c.5266A>G (p.Ile1756Val)
|
rs201257328
|
0.00032
|
|
NM_001360.3(DHCR7):c.927C>A (p.Gly309=)
|
rs149974099
|
0.00032
|
|
NM_001365999.1(SZT2):c.2025G>A (p.Pro675=)
|
rs561698107
|
0.00032
|
|
NM_001367624.2(ZNF469):c.7321C>T (p.Pro2441Ser)
|
rs546137802
|
0.00032
|
|
NM_001369.3(DNAH5):c.7892C>T (p.Thr2631Met)
|
rs375200875
|
0.00032
|
|
NM_001374385.1(ATP8B1):c.1438C>T (p.Arg480Trp)
|
rs142231389
|
0.00032
|
|
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)
|
rs184779459
|
0.00032
|
|
NM_001386125.1(OBSCN):c.19850C>T (p.Ala6617Val)
|
rs191098985
|
0.00032
|
|
NM_001457.4(FLNB):c.5134G>A (p.Val1712Met)
|
rs138141099
|
0.00032
|
|
NM_002473.6(MYH9):c.1491C>T (p.Ile497=)
|
rs146487404
|
0.00032
|
|
NM_002473.6(MYH9):c.3943-7C>A
|
rs376396278
|
0.00032
|
|
NM_002473.6(MYH9):c.4831G>A (p.Ala1611Thr)
|
rs150029980
|
0.00032
|
|
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)
|
rs551708243
|
0.00032
|
|
NM_003361.4(UMOD):c.184A>C (p.Thr62Pro)
|
rs143248111
|
0.00032
|
|
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=)
|
rs140138979
|
0.00032
|
|
NM_004371.4(COPA):c.2531G>A (p.Gly844Asp)
|
rs143115096
|
0.00032
|
|
NM_004385.5(VCAN):c.3957C>A (p.His1319Gln)
|
rs143393049
|
0.00032
|
|
NM_004456.5(EZH2):c.965A>G (p.Asn322Ser)
|
rs151023145
|
0.00032
|
|
NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys)
|
rs147657490
|
0.00032
|
|
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His)
|
rs144343770
|
0.00032
|
|
NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln)
|
rs150125857
|
0.00032
|
|
NM_005535.3(IL12RB1):c.930G>A (p.Ser310=)
|
rs144647048
|
0.00032
|
|
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)
|
rs104895016
|
0.00032
|
|
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg)
|
rs141233896
|
0.00032
|
|
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln)
|
rs200697103
|
0.00032
|
|
NM_006922.4(SCN3A):c.5889T>C (p.Ser1963=)
|
rs146624492
|
0.00032
|
|
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg)
|
rs146203427
|
0.00032
|
|
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala)
|
rs143041875
|
0.00032
|
|
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)
|
rs190617851
|
0.00032
|
|
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys)
|
rs140678034
|
0.00032
|
|
NM_016222.4(DDX41):c.6G>T (p.Glu2Asp)
|
rs138435584
|
0.00032
|
|
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn)
|
rs199899548
|
0.00032
|
|
NM_016239.4(MYO15A):c.9160C>G (p.Pro3054Ala)
|
rs368760461
|
0.00032
|
|
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met)
|
rs148056371
|
0.00032
|
|
NM_016343.4(CENPF):c.2595A>C (p.Glu865Asp)
|
rs142993088
|
0.00032
|
|
NM_018292.5(QRSL1):c.850-5A>G
|
rs201614446
|
0.00032
|
|
NM_018979.4(WNK1):c.5741T>C (p.Ile1914Thr)
|
rs184764148
|
0.00032
|
|
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)
|
rs150036969
|
0.00032
|
|
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)
|
rs199747962
|
0.00032
|
|
NM_025137.4(SPG11):c.257+15A>C
|
rs538988623
|
0.00032
|
|
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=)
|
rs202066007
|
0.00032
|
|
NM_032380.5(GFM2):c.2213G>A (p.Gly738Asp)
|
rs139901493
|
0.00032
|
|
NM_032620.4(GTPBP3):c.592-5G>T
|
rs201374694
|
0.00032
|
|
NM_032634.4(PIGO):c.969T>G (p.Leu323=)
|
rs142658052
|
0.00032
|
|
NM_052989.3(IFT122):c.2643C>T (p.Ala881=)
|
rs150055466
|
0.00032
|
|
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp)
|
rs368822172
|
0.00032
|
|
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala)
|
rs142205860
|
0.00032
|
|
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=)
|
rs149176010
|
0.00032
|
|
NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu)
|
rs547049916
|
0.00032
|
|
NM_198239.2(CCN6):c.219A>T (p.Gly73=)
|
rs139375158
|
0.00032
|
|
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp)
|
rs149636063
|
0.00032
|
|
NM_206937.2(LIG4):c.1983T>C (p.Asp661=)
|
rs199638675
|
0.00032
|
|
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val)
|
rs143328343
|
0.00031
|
|
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His)
|
rs140453525
|
0.00031
|
|
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)
|
rs138867099
|
0.00031
|
|
NM_000081.4(LYST):c.2313G>A (p.Gln771=)
|
rs147220685
|
0.00031
|
|
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys)
|
rs139262486
|
0.00031
|
|
NM_000085.5(CLCNKB):c.172G>T (p.Val58Leu)
|
rs144043939
|
0.00031
|
|
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His)
|
rs146934952
|
0.00031
|
|
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu)
|
rs150452037
|
0.00031
|
|
NM_000186.4(CFH):c.2957-7A>G
|
rs190778135
|
0.00031
|
|
NM_000233.4(LHCGR):c.161+9A>G
|
rs573699597
|
0.00031
|
|
NM_000350.3(ABCA4):c.2383-12G>A
|
rs368548294
|
0.00031
|
|
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg)
|
rs373993732
|
0.00031
|
|
NM_000419.5(ITGA2B):c.1821G>A (p.Thr607=)
|
rs139878415
|
0.00031
|
|
NM_000481.4(AMT):c.825T>A (p.Asn275Lys)
|
rs144241950
|
0.00031
|
|
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)
|
rs145540754
|
0.00031
|
|
NM_000506.5(F2):c.234G>A (p.Thr78=)
|
rs151121282
|
0.00031
|
|
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)
|
rs374524755
|
0.00031
|
|
NM_000521.4(HEXB):c.918G>C (p.Leu306=)
|
rs140607282
|
0.00031
|
|
NM_000532.5(PCCB):c.180G>A (p.Lys60=)
|
rs140636870
|
0.00031
|
|
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly)
|
rs149984626
|
0.00031
|
|
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=)
|
rs145446438
|
0.00031
|
|
NM_000553.6(WRN):c.130C>G (p.Leu44Val)
|
rs139775895
|
0.00031
|
|
NM_000642.3(AGL):c.1333A>G (p.Met445Val)
|
rs140375476
|
0.00031
|
|
NM_000843.4(GRM6):c.2257G>A (p.Gly753Ser)
|
rs79602188
|
0.00031
|
|
NM_001013693.3(LDLRAD2):c.*1278C>T
|
rs376645617
|
0.00031
|
|
NM_001039141.3(TRIOBP):c.6556G>A (p.Gly2186Ser)
|
rs191901426
|
0.00031
|
|
NM_001039213.4(CEACAM16):c.589G>A (p.Gly197Ser)
|
rs367891074
|
0.00031
|
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
|
NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr)
|
rs148615988
|
0.00031
|
|
NM_001083961.2(WDR62):c.2211-8C>T
|
rs369077520
|
0.00031
|
|
NM_001127208.3(TET2):c.3409+15T>A
|
rs192879693
|
0.00031
|
|
NM_001127453.2(GSDME):c.1118G>A (p.Gly373Asp)
|
rs146399987
|
0.00031
|
|
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=)
|
rs554167951
|
0.00031
|
|
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu)
|
rs199700878
|
0.00031
|
|
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln)
|
rs200226466
|
0.00031
|
|
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)
|
rs375374971
|
0.00031
|
|
NM_001252024.2(TRPM1):c.2701-10T>A
|
rs201747375
|
0.00031
|
|
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg)
|
rs189432084
|
0.00031
|
|
NM_001288705.3(CSF1R):c.1420G>A (p.Val474Ile)
|
rs191994354
|
0.00031
|
|
NM_001363711.2(DUOX2):c.4027C>T (p.Leu1343Phe)
|
rs147945181
|
0.00031
|
|
NM_001369.3(DNAH5):c.9549G>A (p.Gln3183=)
|
rs147865593
|
0.00031
|
|
NM_001369.3(DNAH5):c.9995G>A (p.Arg3332Lys)
|
rs138968139
|
0.00031
|
|
NM_001378183.1(PIEZO2):c.4250A>G (p.Lys1417Arg)
|
rs749257673
|
0.00031
|
|
NM_001457.4(FLNB):c.4903G>A (p.Gly1635Ser)
|
rs139046903
|
0.00031
|
|
NM_001457.4(FLNB):c.7041C>A (p.Phe2347Leu)
|
rs139325959
|
0.00031
|
|
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)
|
rs145172612
|
0.00031
|
|
NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile)
|
rs141527136
|
0.00031
|
|
NM_001851.6(COL9A1):c.333C>T (p.Tyr111=)
|
rs141047907
|
0.00031
|
|
NM_001851.6(COL9A1):c.460G>C (p.Val154Leu)
|
rs138583508
|
0.00031
|
|
NM_001853.4(COL9A3):c.779C>T (p.Ala260Val)
|
rs147134081
|
0.00031
|
|
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn)
|
rs143663917
|
0.00031
|
|
NM_002163.4(IRF8):c.982T>G (p.Phe328Val)
|
rs202046728
|
0.00031
|
|
NM_002185.5(IL7R):c.1316C>G (p.Thr439Ser)
|
rs148931962
|
0.00031
|
|
NM_002292.4(LAMB2):c.2922G>C (p.Gly974=)
|
rs145465720
|
0.00031
|
|
NM_002303.6(LEPR):c.1713G>T (p.Gln571His)
|
rs141393785
|
0.00031
|
|
NM_002335.4(LRP5):c.1818G>A (p.Ala606=)
|
rs148603249
|
0.00031
|
|
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser)
|
rs113696032
|
0.00031
|
|
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu)
|
rs148621523
|
0.00031
|
|
NM_002529.4(NTRK1):c.482G>A (p.Arg161His)
|
rs150271893
|
0.00031
|
|
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly)
|
rs200890386
|
0.00031
|
|
NM_003331.5(TYK2):c.2985C>T (p.Ile995=)
|
rs147442318
|
0.00031
|
|
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro)
|
rs370243498
|
0.00031
|
|
NM_003737.4(DCHS1):c.9269A>T (p.Tyr3090Phe)
|
rs201094018
|
0.00031
|
|
NM_004086.3(COCH):c.272G>A (p.Arg91Gln)
|
rs188283330
|
0.00031
|
|
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe)
|
rs116980451
|
0.00031
|
|
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu)
|
rs149764887
|
0.00031
|
|
NM_005045.4(RELN):c.2446C>T (p.Leu816Phe)
|
rs144653976
|
0.00031
|
|
NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln)
|
rs199553777
|
0.00031
|
|
NM_005529.7(HSPG2):c.83C>T (p.Ala28Val)
|
rs754643779
|
0.00031
|
|
NM_005546.4(ITK):c.631G>C (p.Val211Leu)
|
rs142038079
|
0.00031
|
|
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn)
|
rs145677667
|
0.00031
|
|
NM_006182.4(DDR2):c.720C>T (p.Asp240=)
|
rs141801107
|
0.00031
|
|
NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys)
|
rs148518827
|
0.00031
|
|
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val)
|
rs148065361
|
0.00031
|
|
NM_012434.5(SLC17A5):c.1059G>A (p.Arg353=)
|
rs149017456
|
0.00031
|
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
|
NM_014714.4(IFT140):c.2586C>T (p.Ala862=)
|
rs148557575
|
0.00031
|
|
NM_014780.5(CUL7):c.3273G>A (p.Ser1091=)
|
rs144269675
|
0.00031
|
|
NM_014915.3(ANKRD26):c.599A>G (p.Lys200Arg)
|
rs150623081
|
0.00031
|
|
NM_015662.3(IFT172):c.3005T>A (p.Leu1002His)
|
rs369466577
|
0.00031
|
|
NM_017436.7(A4GALT):c.892G>T (p.Asp298Tyr)
|
rs200414851
|
0.00031
|
|
NM_017636.4(TRPM4):c.1242T>C (p.Phe414=)
|
rs200633475
|
0.00031
|
|
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)
|
rs139007744
|
0.00031
|
|
NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe)
|
rs78239264
|
0.00031
|
|
NM_021098.3(CACNA1H):c.2269G>C (p.Gly757Arg)
|
rs200813987
|
0.00031
|
|
NM_021098.3(CACNA1H):c.6251C>T (p.Ala2084Val)
|
rs368835582
|
0.00031
|
|
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)
|
rs370074117
|
0.00031
|
|
NM_022124.6(CDH23):c.2341G>A (p.Ala781Thr)
|
rs375918283
|
0.00031
|
|
NM_024079.5(ALG8):c.1506C>T (p.Gly502=)
|
rs148820351
|
0.00031
|
|
NM_025099.6(CTC1):c.1207-4C>T
|
rs369904656
|
0.00031
|
|
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val)
|
rs149584080
|
0.00031
|
|
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)
|
rs147927477
|
0.00031
|
|
NM_080916.3(DGUOK):c.256-7C>T
|
rs199531052
|
0.00031
|
|
NM_139076.3(ABRAXAS1):c.1011del (p.Ala338fs)
|
rs764429803
|
0.00031
|
|
NM_139343.3(BIN1):c.906C>T (p.Gly302=)
|
rs371258305
|
0.00031
|
|
NM_152268.4(PARS2):c.1075G>T (p.Asp359Tyr)
|
rs192469262
|
0.00031
|
|
NM_152564.5(VPS13B):c.885C>T (p.Gly295=)
|
rs143112539
|
0.00031
|
|
NM_153212.3(GJB4):c.568A>T (p.Met190Leu)
|
rs543341299
|
0.00031
|
|
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)
|
rs371714495
|
0.00031
|
|
NM_182760.4(SUMF1):c.891C>T (p.Asn297=)
|
rs143754187
|
0.00031
|
|
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys)
|
rs143578863
|
0.00031
|
|
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu)
|
rs150463407
|
0.00031
|
|
NM_183357.3(ADCY5):c.3253G>A (p.Val1085Ile)
|
rs149775261
|
0.00031
|
|
NM_198525.3(KIF7):c.2049G>A (p.Gly683=)
|
rs141856439
|
0.00031
|
|
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile)
|
rs145024832
|
0.00031
|
|
NM_000022.4(ADA):c.384G>A (p.Glu128=)
|
rs572092463
|
0.00030
|
|
NM_000051.4(ATM):c.7044G>A (p.Thr2348=)
|
rs140104789
|
0.00030
|
|
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile)
|
rs142568125
|
0.00030
|
|
NM_000199.5(SGSH):c.999C>T (p.Tyr333=)
|
rs149139346
|
0.00030
|
|
NM_000260.4(MYO7A):c.731G>A (p.Arg244His)
|
rs121965081
|
0.00030
|
|
NM_000271.5(NPC1):c.3717C>T (p.His1239=)
|
rs34624018
|
0.00030
|
|
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro)
|
rs397516423
|
0.00030
|
|
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp)
|
rs200664061
|
0.00030
|
|
NM_000512.5(GALNS):c.121-4G>A
|
rs200008960
|
0.00030
|
|
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser)
|
rs141276889
|
0.00030
|
|
NM_000540.3(RYR1):c.79G>A (p.Val27Met)
|
rs143481004
|
0.00030
|
|
NM_000546.6(TP53):c.173C>G (p.Pro58Arg)
|
rs144386518
|
0.00030
|
|
NM_000687.4(AHCY):c.882C>G (p.Ala294=)
|
rs376464023
|
0.00030
|
|
NM_000894.3(LHB):c.364G>A (p.Gly122Ser)
|
rs5030774
|
0.00030
|
|
NM_001039.4(SCNN1G):c.1939G>T (p.Asp647Tyr)
|
rs72647543
|
0.00030
|
|
NM_001039141.3(TRIOBP):c.5274G>A (p.Thr1758=)
|
rs370386947
|
0.00030
|
|
NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=)
|
rs55821172
|
0.00030
|
|
NM_001048166.1(STIL):c.1005A>G (p.Glu335=)
|
rs149296029
|
0.00030
|
|
NM_001048174.2(MUTYH):c.116-54C>T
|
rs367908623
|
0.00030
|
|
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr)
|
rs192423622
|
0.00030
|
|
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=)
|
rs75116272
|
0.00030
|
|
NM_001200.4(BMP2):c.891G>A (p.Lys297=)
|
rs147542801
|
0.00030
|
|
NM_001291303.3(FAT4):c.6731C>T (p.Thr2244Met)
|
rs145342353
|
0.00030
|
|
NM_001355436.2(SPTB):c.1048G>A (p.Val350Met)
|
rs141973081
|
0.00030
|
|
NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val)
|
rs139180192
|
0.00030
|
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
|
NM_001379081.2(FREM1):c.4945A>G (p.Ile1649Val)
|
rs199891537
|
0.00030
|
|
NM_001379081.2(FREM1):c.6021C>G (p.Pro2007=)
|
rs200987019
|
0.00030
|
|
NM_001457.4(FLNB):c.6928A>G (p.Ile2310Val)
|
rs143005300
|
0.00030
|
|
NM_001854.4(COL11A1):c.1169A>G (p.Glu390Gly)
|
rs139480042
|
0.00030
|
|
NM_001953.5(TYMP):c.1443G>A (p.Gln481=)
|
rs377497287
|
0.00030
|
|
NM_002972.4(SBF1):c.3147-8G>C
|
rs182956712
|
0.00030
|
|
NM_003331.5(TYK2):c.648G>A (p.Pro216=)
|
rs142642403
|
0.00030
|
|
NM_003737.4(DCHS1):c.3686G>A (p.Arg1229His)
|
rs139849372
|
0.00030
|
|
NM_003742.4(ABCB11):c.2620T>C (p.Ser874Pro)
|
rs184334834
|
0.00030
|
|
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)
|
rs587783504
|
0.00030
|
|
NM_005220.3(DLX3):c.252G>A (p.Ser84=)
|
rs139226711
|
0.00030
|
|
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)
|
rs113446173
|
0.00030
|
|
NM_006005.3(WFS1):c.2436C>T (p.Ser812=)
|
rs142630687
|
0.00030
|
|
NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser)
|
rs113718290
|
0.00030
|
|
NM_006206.6(PDGFRA):c.276G>A (p.Ala92=)
|
rs140725151
|
0.00030
|
|
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg)
|
rs182600362
|
0.00030
|
|
NM_014762.4(DHCR24):c.102C>T (p.Phe34=)
|
rs144149165
|
0.00030
|
|
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)
|
rs377405910
|
0.00030
|
|
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)
|
rs145541911
|
0.00030
|
|
NM_021930.6(RINT1):c.766C>G (p.Arg256Gly)
|
rs144994876
|
0.00030
|
|
NM_022124.6(CDH23):c.2171G>A (p.Arg724His)
|
rs374955091
|
0.00030
|
|
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)
|
rs201504946
|
0.00030
|
|
NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met)
|
rs139119218
|
0.00030
|
|
NM_054027.6(ANKH):c.1141+5A>G
|
rs187972211
|
0.00030
|
|
NM_138477.4(CDAN1):c.3204+5G>A
|
rs201125492
|
0.00030
|
|
NM_144599.5(NIPA1):c.21A>G (p.Ala7=)
|
rs749414711
|
0.00030
|
|
NM_152564.5(VPS13B):c.11114A>T (p.Glu3705Val)
|
rs376308074
|
0.00030
|
|
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)
|
rs141637316
|
0.00030
|
|
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=)
|
rs148033080
|
0.00030
|
|
NM_172364.5(CACNA2D4):c.1509C>T (p.Ser503=)
|
rs199888783
|
0.00030
|
|
NM_178857.6(RP1L1):c.609+2T>C
|
rs199958805
|
0.00030
|
|
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His)
|
rs142206385
|
0.00030
|
|
NM_182943.3(PLOD2):c.1744-11A>G
|
rs376704588
|
0.00030
|
|
NM_194248.3(OTOF):c.1135G>A (p.Val379Met)
|
rs141111646
|
0.00030
|
|
NM_201525.4(ADGRG1):c.214C>T (p.Pro72Ser)
|
rs144561715
|
0.00030
|
|
NM_000018.4(ACADVL):c.1678+15C>T
|
rs371402802
|
0.00029
|
|
NM_000022.4(ADA):c.975+8G>A
|
rs192148185
|
0.00029
|
|
NM_000037.4(ANK1):c.3984+9A>G
|
rs369984591
|
0.00029
|
|
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00029
|
|
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=)
|
rs372456815
|
0.00029
|
|
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)
|
rs148545569
|
0.00029
|
|
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)
|
rs141204958
|
0.00029
|
|
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp)
|
rs201607149
|
0.00029
|
|
NM_000071.3(CBS):c.1479G>A (p.Thr493=)
|
rs143225442
|
0.00029
|
|
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln)
|
rs150953050
|
0.00029
|
|
NM_000081.4(LYST):c.3394-14T>C
|
rs372892911
|
0.00029
|
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
|
NM_000130.5(F5):c.1158A>G (p.Gln386=)
|
rs148623862
|
0.00029
|
|
NM_000130.5(F5):c.5490G>A (p.Leu1830=)
|
rs149092241
|
0.00029
|
|
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu)
|
rs149551759
|
0.00029
|
|
NM_000135.4(FANCA):c.2637C>T (p.Ala879=)
|
rs149435806
|
0.00029
|
|
NM_000135.4(FANCA):c.577C>G (p.Leu193Val)
|
rs141861208
|
0.00029
|
|
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
|
NM_000199.5(SGSH):c.6C>T (p.Ser2=)
|
rs1043643087
|
0.00029
|
|
NM_000243.3(MEFV):c.1827C>G (p.Pro609=)
|
rs104895135
|
0.00029
|
|
NM_000243.3(MEFV):c.231C>A (p.Ile77=)
|
rs139899201
|
0.00029
|
|
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg)
|
rs138374956
|
0.00029
|
|
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp)
|
rs201234369
|
0.00029
|
|
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met)
|
rs201203036
|
0.00029
|
|
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)
|
rs201489714
|
0.00029
|
|
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=)
|
rs397516327
|
0.00029
|
|
NM_000262.3(NAGA):c.993G>T (p.Leu331=)
|
rs147853281
|
0.00029
|
|
NM_000271.5(NPC1):c.3246-8C>T
|
rs145227129
|
0.00029
|
|
NM_000293.3(PHKB):c.1364-10T>C
|
rs199899291
|
0.00029
|
|
NM_000306.4(POU1F1):c.337C>T (p.Arg113Trp)
|
rs138356138
|
0.00029
|
|
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)
|
rs199473183
|
0.00029
|
|
NM_000336.3(SCNN1B):c.880+10G>A
|
rs200089599
|
0.00029
|
|
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met)
|
rs139250920
|
0.00029
|
|
NM_000361.3(THBD):c.1102C>T (p.Pro368Ser)
|
rs144853671
|
0.00029
|
|
NM_000414.4(HSD17B4):c.1685G>A (p.Arg562His)
|
rs35281104
|
0.00029
|
|
NM_000465.4(BARD1):c.346C>T (p.His116Tyr)
|
rs144856889
|
0.00029
|
|
NM_000466.3(PEX1):c.1360-7C>T
|
rs371890000
|
0.00029
|
|
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala)
|
rs185181696
|
0.00029
|
|
NM_000488.4(SERPINC1):c.29C>A (p.Thr10Asn)
|
rs61736655
|
0.00029
|
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00029
|
|
NM_000507.4(FBP1):c.102G>C (p.Leu34=)
|
rs143832764
|
0.00029
|
|
NM_000507.4(FBP1):c.495C>T (p.Tyr165=)
|
rs139264724
|
0.00029
|
|
NM_000515.5(GH1):c.597C>G (p.Val199=)
|
rs142704768
|
0.00029
|
|
NM_000518.5(HBB):c.324C>T (p.Gly108=)
|
rs193922562
|
0.00029
|
|
NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu)
|
rs199967717
|
0.00029
|
|
NM_000540.3(RYR1):c.5235G>A (p.Thr1745=)
|
rs149471411
|
0.00029
|
|
NM_000642.3(AGL):c.82+4A>C
|
rs765098686
|
0.00029
|
|
NM_000687.4(AHCY):c.855-8C>T
|
rs370059571
|
0.00029
|
|
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)
|
rs142967869
|
0.00029
|
|
NM_001008216.2(GALE):c.369G>A (p.Gly123=)
|
rs138148991
|
0.00029
|
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
|
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)
|
rs137906617
|
0.00029
|
|
NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser)
|
rs145463632
|
0.00029
|
|
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)
|
rs143724056
|
0.00029
|
|
NM_001134363.3(RBM20):c.567G>T (p.Gln189His)
|
rs377623370
|
0.00029
|
|
NM_001145809.2(MYH14):c.5452C>T (p.Arg1818Cys)
|
rs377096949
|
0.00029
|
|
NM_001145809.2(MYH14):c.5599C>T (p.Arg1867Cys)
|
rs187789045
|
0.00029
|
|
NM_001161748.2(LIM2):c.175+50G>A
|
rs147625714
|
0.00029
|
|
NM_001164508.2(NEB):c.12492A>C (p.Pro4164=)
|
rs1462106212
|
0.00029
|
|
NM_001164508.2(NEB):c.22647G>A (p.Glu7549=)
|
rs201688876
|
0.00029
|
|
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=)
|
rs370873040
|
0.00029
|
|
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile)
|
rs202234374
|
0.00029
|
|
NM_001242957.3(MAK):c.1819C>T (p.Arg607Trp)
|
rs199594233
|
0.00029
|
|
NM_001277115.2(DNAH11):c.794G>A (p.Arg265His)
|
rs192989152
|
0.00029
|
|
NM_001292063.2(OTOG):c.6536T>C (p.Val2179Ala)
|
rs770039471
|
0.00029
|
|
NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala)
|
rs139166382
|
0.00029
|
|
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)
|
rs142155986
|
0.00029
|
|
NM_001371333.1(DIABLO):c.50+5C>T
|
rs372776075
|
0.00029
|
|
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=)
|
rs61757108
|
0.00029
|
|
NM_001378609.3(OTOGL):c.4518C>T (p.Asp1506=)
|
rs187941815
|
0.00029
|
|
NM_001384732.1(CPLANE1):c.5447G>A (p.Cys1816Tyr)
|
rs138639220
|
0.00029
|
|
NM_001698.3(AUH):c.936T>C (p.Tyr312=)
|
rs139628387
|
0.00029
|
|
NM_001851.6(COL9A1):c.2011G>A (p.Glu671Lys)
|
rs141825151
|
0.00029
|
|
NM_001853.4(COL9A3):c.1258C>G (p.Gln420Glu)
|
rs138648117
|
0.00029
|
|
NM_002103.5(GYS1):c.1338C>T (p.His446=)
|
rs139974904
|
0.00029
|
|
NM_002427.4(MMP13):c.663G>A (p.Ala221=)
|
rs143331971
|
0.00029
|
|
NM_002470.4(MYH3):c.376G>C (p.Val126Leu)
|
rs201787435
|
0.00029
|
|
NM_002474.3(MYH11):c.1502G>A (p.Arg501His)
|
rs144244239
|
0.00029
|
|
NM_002528.7(NTHL1):c.74G>A (p.Arg25Lys)
|
rs2302172
|
0.00029
|
|
NM_002529.4(NTRK1):c.1068C>T (p.Asn356=)
|
rs145823996
|
0.00029
|
|
NM_002617.4(PEX10):c.316C>T (p.Leu106=)
|
rs140340426
|
0.00029
|
|
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)
|
rs41554817
|
0.00029
|
|
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met)
|
rs144989341
|
0.00029
|
|
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala)
|
rs377767450
|
0.00029
|
|
NM_003322.6(TULP1):c.327C>G (p.Ala109=)
|
rs568898016
|
0.00029
|
|
NM_003859.3(DPM1):c.22C>T (p.Arg8Cys)
|
rs201392536
|
0.00029
|
|
NM_004448.4(ERBB2):c.1738-5C>G
|
rs749633839
|
0.00029
|
|
NM_004727.3(SLC24A1):c.2577C>T (p.Ser859=)
|
rs371059164
|
0.00029
|
|
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val)
|
rs199767035
|
0.00029
|
|
NM_004937.3(CTNS):c.661G>A (p.Val221Met)
|
rs138270433
|
0.00029
|
|
NM_005045.4(RELN):c.8843+3A>C
|
rs200124755
|
0.00029
|
|
NM_005378.6(MYCN):c.710C>T (p.Pro237Leu)
|
rs767711936
|
0.00029
|
|
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu)
|
rs138768918
|
0.00029
|
|
NM_005529.7(HSPG2):c.11496C>T (p.Phe3832=)
|
rs536882233
|
0.00029
|
|
NM_005535.3(IL12RB1):c.390C>T (p.Thr130=)
|
rs201723337
|
0.00029
|
|
NM_005802.5(TOPORS):c.2115T>C (p.Thr705=)
|
rs372292364
|
0.00029
|
|
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=)
|
rs149585376
|
0.00029
|
|
NM_005993.5(TBCD):c.2638A>T (p.Met880Leu)
|
rs199972447
|
0.00029
|
|
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr)
|
rs148028521
|
0.00029
|
|
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val)
|
rs150368988
|
0.00029
|
|
NM_006005.3(WFS1):c.325C>T (p.His109Tyr)
|
rs112871383
|
0.00029
|
|
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=)
|
rs145718040
|
0.00029
|
|
NM_006348.5(COG5):c.117C>T (p.Asn39=)
|
rs138518242
|
0.00029
|
|
NM_012144.4(DNAI1):c.1104C>T (p.Tyr368=)
|
rs140711767
|
0.00029
|
|
NM_014026.6(DCPS):c.791G>A (p.Arg264Gln)
|
rs140377449
|
0.00029
|
|
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=)
|
rs145825654
|
0.00029
|
|
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile)
|
rs200734842
|
0.00029
|
|
NM_014208.3(DSPP):c.368G>C (p.Gly123Ala)
|
rs199683760
|
0.00029
|
|
NM_014208.3(DSPP):c.777T>C (p.Ser259=)
|
rs377300383
|
0.00029
|
|
NM_014252.4(SLC25A15):c.345C>T (p.Phe115=)
|
rs35434090
|
0.00029
|
|
NM_014290.3(TDRD7):c.622A>G (p.Thr208Ala)
|
rs139706467
|
0.00029
|
|
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)
|
rs137905181
|
0.00029
|
|
NM_016239.4(MYO15A):c.10121G>A (p.Arg3374His)
|
rs201794696
|
0.00029
|
|
NM_016239.4(MYO15A):c.2045C>T (p.Pro682Leu)
|
rs993096170
|
0.00029
|
|
NM_016729.3(FOLR1):c.157T>C (p.Leu53=)
|
rs143413500
|
0.00029
|
|
NM_017433.5(MYO3A):c.426T>G (p.His142Gln)
|
rs189595832
|
0.00029
|
|
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
|
rs202112856
|
0.00029
|
|
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly)
|
rs201083157
|
0.00029
|
|
NM_018013.4(SOBP):c.1747T>C (p.Ser583Pro)
|
rs760532040
|
0.00029
|
|
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys)
|
rs137966123
|
0.00029
|
|
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=)
|
rs558778286
|
0.00029
|
|
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=)
|
rs143346402
|
0.00029
|
|
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=)
|
rs145561881
|
0.00029
|
|
NM_020376.4(PNPLA2):c.943C>T (p.Pro315Ser)
|
rs150385364
|
0.00029
|
|
NM_022042.4(SLC26A1):c.1612C>T (p.Arg538Trp)
|
rs143381873
|
0.00029
|
|
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)
|
rs201475055
|
0.00029
|
|
NM_022458.4(LMBR1):c.423+4545T>C
|
rs376183960
|
0.00029
|
|
NM_023036.6(DNAI2):c.828G>A (p.Thr276=)
|
rs149918986
|
0.00029
|
|
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)
|
rs561310777
|
0.00029
|
|
NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu)
|
rs373796566
|
0.00029
|
|
NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=)
|
rs373352597
|
0.00029
|
|
NM_033109.5(PNPT1):c.1099C>T (p.Leu367Phe)
|
rs142840568
|
0.00029
|
|
NM_033641.4(COL4A6):c.726A>C (p.Pro242=)
|
rs149989161
|
0.00029
|
|
NM_080424.4(SP110):c.459G>A (p.Ala153=)
|
rs201957445
|
0.00029
|
|
NM_152564.5(VPS13B):c.3436C>G (p.Leu1146Val)
|
rs202015701
|
0.00029
|
|
NM_152564.5(VPS13B):c.4989C>A (p.Pro1663=)
|
rs142380266
|
0.00029
|
|
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu)
|
rs115440602
|
0.00029
|
|
NM_152783.5(D2HGDH):c.893C>T (p.Thr298Ile)
|
rs141475702
|
0.00029
|
|
NM_173630.4(RTTN):c.2355T>C (p.Ser785=)
|
rs200600259
|
0.00029
|
|
NM_174936.4(PCSK9):c.399+4A>G
|
rs376653409
|
0.00029
|
|
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=)
|
rs138889960
|
0.00029
|
|
NM_182760.4(SUMF1):c.602+12C>T
|
rs200971871
|
0.00029
|
|
NM_182931.3(KMT2E):c.3875C>T (p.Pro1292Leu)
|
rs144839449
|
0.00029
|
|
NM_199242.3(UNC13D):c.2830+7G>A
|
rs201023196
|
0.00029
|
|
NM_199242.3(UNC13D):c.972C>T (p.Asp324=)
|
rs368990813
|
0.00029
|
|
NM_201525.4(ADGRG1):c.97C>T (p.Arg33Cys)
|
rs776480483
|
0.00029
|
|
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)
|
rs111033402
|
0.00029
|
|
NM_000049.4(ASPA):c.832G>A (p.Val278Met)
|
rs140581464
|
0.00028
|
|
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln)
|
rs144760921
|
0.00028
|
|
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)
|
rs146339375
|
0.00028
|
|
NM_000233.4(LHCGR):c.561A>G (p.Glu187=)
|
rs369601921
|
0.00028
|
|
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln)
|
rs372768607
|
0.00028
|
|
NM_000350.3(ABCA4):c.294C>G (p.Asn98Lys)
|
rs145133167
|
0.00028
|
|
NM_000360.4(TH):c.67G>A (p.Ala23Thr)
|
rs201081519
|
0.00028
|
|
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr)
|
rs146490004
|
0.00028
|
|
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser)
|
rs754130942
|
0.00028
|
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
|
NM_000553.6(WRN):c.3259A>G (p.Lys1087Glu)
|
rs374154973
|
0.00028
|
|
NM_000843.4(GRM6):c.1455C>T (p.Gly485=)
|
rs149519053
|
0.00028
|
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
|
NM_001039141.3(TRIOBP):c.483G>A (p.Glu161=)
|
rs368119524
|
0.00028
|
|
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=)
|
rs190024862
|
0.00028
|
|
NM_001128228.3(TPRN):c.1094A>G (p.Gln365Arg)
|
rs780953179
|
0.00028
|
|
NM_001134363.3(RBM20):c.1378T>C (p.Leu460=)
|
rs374014662
|
0.00028
|
|
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser)
|
rs727503392
|
0.00028
|
|
NM_001164508.2(NEB):c.20853C>T (p.Ile6951=)
|
rs199730497
|
0.00028
|
|
NM_001193315.2(VIPAS39):c.504+9A>G
|
rs371762531
|
0.00028
|
|
NM_001194998.2(CEP152):c.3839A>G (p.Asp1280Gly)
|
rs539483307
|
0.00028
|
|
NM_001354712.2(THRB):c.11A>G (p.Asn4Ser)
|
rs114070375
|
0.00028
|
|
NM_001371986.1(UNC80):c.691G>A (p.Ala231Thr)
|
rs144011305
|
0.00028
|
|
NM_001374504.1(TMPRSS6):c.361C>T (p.Arg121Cys)
|
rs145073875
|
0.00028
|
|
NM_001626.6(AKT2):c.212A>G (p.Asn71Ser)
|
rs200272953
|
0.00028
|
|
NM_001737.5(C9):c.1585G>A (p.Ala529Thr)
|
rs137891079
|
0.00028
|
|
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys)
|
rs200431130
|
0.00028
|
|
NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser)
|
rs138503916
|
0.00028
|
|
NM_001853.4(COL9A3):c.1756A>C (p.Thr586Pro)
|
rs145821912
|
0.00028
|
|
NM_002076.4(GNS):c.1434C>G (p.Val478=)
|
rs141958901
|
0.00028
|
|
NM_002437.5(MPV17):c.156G>A (p.Leu52=)
|
rs142493907
|
0.00028
|
|
NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile)
|
rs200873074
|
0.00028
|
|
NM_004614.5(TK2):c.80C>T (p.Ser27Leu)
|
rs191573607
|
0.00028
|
|
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=)
|
rs369899077
|
0.00028
|
|
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)
|
rs71539657
|
0.00028
|
|
NM_006420.3(ARFGEF2):c.2686-16C>A
|
rs370562126
|
0.00028
|
|
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln)
|
rs764407421
|
0.00028
|
|
NM_007215.4(POLG2):c.590T>C (p.Leu197Pro)
|
rs139282177
|
0.00028
|
|
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr)
|
rs141341430
|
0.00028
|
|
NM_014014.5(SNRNP200):c.6082A>G (p.Ser2028Gly)
|
rs766856664
|
0.00028
|
|
NM_014639.4(SKIC3):c.3488T>A (p.Leu1163His)
|
rs529911259
|
0.00028
|
|
NM_015330.6(SPECC1L):c.2003C>T (p.Thr668Met)
|
rs143004795
|
0.00028
|
|
NM_016239.4(MYO15A):c.4096G>A (p.Asp1366Asn)
|
rs368603235
|
0.00028
|
|
NM_022042.4(SLC26A1):c.153G>C (p.Gln51His)
|
rs200471470
|
0.00028
|
|
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=)
|
rs376881824
|
0.00028
|
|
NM_022464.5(SIL1):c.1167C>T (p.Pro389=)
|
rs199890503
|
0.00028
|
|
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu)
|
rs376216833
|
0.00028
|
|
NM_032415.7(CARD11):c.2920C>T (p.Arg974Cys)
|
rs201847585
|
0.00028
|
|
NM_053025.4(MYLK):c.5114+8G>A
|
rs202229368
|
0.00028
|
|
NM_139076.3(ABRAXAS1):c.125A>G (p.Lys42Arg)
|
rs201948472
|
0.00028
|
|
NM_182943.3(PLOD2):c.1451G>A (p.Arg484His)
|
rs142909885
|
0.00028
|
|
NM_206933.4(USH2A):c.5131G>A (p.Ala1711Thr)
|
rs535796173
|
0.00028
|
|
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val)
|
rs143352618
|
0.00028
|
|
NM_207346.3(TSEN54):c.984T>C (p.Ala328=)
|
rs776960594
|
0.00028
|
|
NM_207361.6(FREM2):c.8337C>T (p.Ser2779=)
|
rs181564966
|
0.00028
|
|
NM_000123.4(ERCC5):c.2800G>A (p.Glu934Lys)
|
rs201274165
|
0.00027
|
|
NM_000158.4(GBE1):c.990C>T (p.Ser330=)
|
rs371194644
|
0.00027
|
|
NM_000211.5(ITGB2):c.1877+12C>T
|
rs200144784
|
0.00027
|
|
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met)
|
rs142511345
|
0.00027
|
|
NM_000260.4(MYO7A):c.758A>G (p.His253Arg)
|
rs375200566
|
0.00027
|
|
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)
|
rs147795644
|
0.00027
|
|
NM_000318.3(PEX2):c.447T>G (p.Gly149=)
|
rs375401977
|
0.00027
|
|
NM_000335.5(SCN5A):c.3837+8T>C
|
rs372405305
|
0.00027
|
|
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=)
|
rs371394487
|
0.00027
|
|
NM_000518.5(HBB):c.316-19T>A
|
rs191535077
|
0.00027
|
|
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile)
|
rs75076115
|
0.00027
|
|
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del)
|
rs780584405
|
0.00027
|
|
NM_001079866.2(BCS1L):c.64C>T (p.Leu22=)
|
rs777854606
|
0.00027
|
|
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr)
|
rs190790872
|
0.00027
|
|
NM_001102401.4(TTI2):c.1274T>G (p.Leu425Arg)
|
rs3736497
|
0.00027
|
|
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val)
|
rs200424400
|
0.00027
|
|
NM_001164508.2(NEB):c.24453G>A (p.Glu8151=)
|
rs372540293
|
0.00027
|
|
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly)
|
rs183354017
|
0.00027
|
|
NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe)
|
rs756943416
|
0.00027
|
|
NM_001375834.1(WIPF1):c.1380C>T (p.Ser460=)
|
rs753915750
|
0.00027
|
|
NM_001384732.1(CPLANE1):c.3381G>C (p.Ser1127=)
|
rs566190241
|
0.00027
|
|
NM_001457.4(FLNB):c.6193G>A (p.Val2065Met)
|
rs371167931
|
0.00027
|
|
NM_001853.4(COL9A3):c.1563C>T (p.Ser521=)
|
rs144292707
|
0.00027
|
|
NM_001875.5(CPS1):c.2275T>A (p.Ser759Thr)
|
rs150012540
|
0.00027
|
|
NM_002292.4(LAMB2):c.5142G>A (p.Lys1714=)
|
rs139511264
|
0.00027
|
|
NM_002529.4(NTRK1):c.575G>C (p.Gly192Ala)
|
rs201185829
|
0.00027
|
|
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr)
|
rs149569984
|
0.00027
|
|
NM_003331.5(TYK2):c.1141C>T (p.Arg381Trp)
|
rs201240289
|
0.00027
|
|
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=)
|
rs115747826
|
0.00027
|
|
NM_003849.4(SUCLG1):c.345T>C (p.Ala115=)
|
rs374594774
|
0.00027
|
|
NM_004239.4(TRIP11):c.202-11T>G
|
rs561503305
|
0.00027
|
|
NM_004525.3(LRP2):c.10880G>T (p.Ser3627Ile)
|
rs138660534
|
0.00027
|
|
NM_004656.4(BAP1):c.1330A>G (p.Thr444Ala)
|
rs374746213
|
0.00027
|
|
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)
|
rs145315496
|
0.00027
|
|
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met)
|
rs139855779
|
0.00027
|
|
NM_005559.4(LAMA1):c.6845T>C (p.Ile2282Thr)
|
rs146148365
|
0.00027
|
|
NM_006031.6(PCNT):c.9099+14G>A
|
rs370266308
|
0.00027
|
|
NM_006348.5(COG5):c.2401T>C (p.Ser801Pro)
|
rs141942249
|
0.00027
|
|
NM_006420.3(ARFGEF2):c.2814+15G>C
|
rs370805254
|
0.00027
|
|
NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=)
|
rs147958141
|
0.00027
|
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
|
NM_007374.3(SIX6):c.636G>C (p.Thr212=)
|
rs140601427
|
0.00027
|
|
NM_013314.4(BLNK):c.205-15C>T
|
rs199854336
|
0.00027
|
|
NM_014049.5(ACAD9):c.1666A>G (p.Ile556Val)
|
rs374356084
|
0.00027
|
|
NM_014319.5(LEMD3):c.1330C>G (p.Pro444Ala)
|
rs144127577
|
0.00027
|
|
NM_014915.3(ANKRD26):c.1970A>T (p.Asp657Val)
|
rs193178384
|
0.00027
|
|
NM_015378.4(VPS13D):c.1728A>G (p.Gln576=)
|
rs142087616
|
0.00027
|
|
NM_020247.5(COQ8A):c.62C>T (p.Ala21Val)
|
rs142184584
|
0.00027
|
|
NM_021098.3(CACNA1H):c.4714C>T (p.Arg1572Trp)
|
rs199693105
|
0.00027
|
|
NM_021729.6(VPS11):c.1023C>T (p.Tyr341=)
|
rs199758476
|
0.00027
|
|
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val)
|
rs199510686
|
0.00027
|
|
NM_022124.6(CDH23):c.5831T>C (p.Leu1944Ser)
|
rs201876362
|
0.00027
|
|
NM_024996.7(GFM1):c.1457C>T (p.Thr486Ile)
|
rs199976922
|
0.00027
|
|
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg)
|
rs200212083
|
0.00027
|
|
NM_032119.4(ADGRV1):c.3022+8T>C
|
rs375286987
|
0.00027
|
|
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)
|
rs201963516
|
0.00027
|
|
NM_198578.4(LRRK2):c.4536+3A>G
|
rs41286476
|
0.00027
|
|
NM_000018.4(ACADVL):c.1533-4T>A
|
rs369986567
|
0.00026
|
|
NM_000037.4(ANK1):c.876G>A (p.Leu292=)
|
rs373060967
|
0.00026
|
|
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)
|
rs146115809
|
0.00026
|
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
|
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr)
|
rs201513511
|
0.00026
|
|
NM_000081.4(LYST):c.7368T>C (p.Asn2456=)
|
rs199631995
|
0.00026
|
|
NM_000091.5(COL4A3):c.2848G>A (p.Val950Ile)
|
rs200044988
|
0.00026
|
|
NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp)
|
rs55948916
|
0.00026
|
|
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys)
|
rs139434755
|
0.00026
|
|
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp)
|
rs142059751
|
0.00026
|
|
NM_000096.4(CP):c.2565C>T (p.Leu855=)
|
rs781672409
|
0.00026
|
|
NM_000124.4(ERCC6):c.3187G>A (p.Val1063Ile)
|
rs148475034
|
0.00026
|
|
NM_000130.5(F5):c.996A>C (p.Lys332Asn)
|
rs143509841
|
0.00026
|
|
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)
|
rs138248569
|
0.00026
|
|
NM_000152.5(GAA):c.2332-10C>G
|
rs373606162
|
0.00026
|
|
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738
|
0.00026
|
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
|
NM_000215.4(JAK3):c.187A>G (p.Ile63Val)
|
rs144405201
|
0.00026
|
|
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp)
|
rs138498207
|
0.00026
|
|
NM_000282.4(PCCA):c.660C>T (p.Ala220=)
|
rs145826296
|
0.00026
|
|
NM_000295.5(SERPINA1):c.171C>T (p.Phe57=)
|
rs150784949
|
0.00026
|
|
NM_000317.3(PTS):c.195T>C (p.Pro65=)
|
rs143472856
|
0.00026
|
|
NM_000327.4(ROM1):c.512G>A (p.Arg171His)
|
rs150926409
|
0.00026
|
|
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln)
|
rs199473331
|
0.00026
|
|
NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=)
|
rs144065614
|
0.00026
|
|
NM_000342.4(SLC4A1):c.1151G>A (p.Arg384His)
|
rs13306776
|
0.00026
|
|
NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=)
|
rs201662945
|
0.00026
|
|
NM_000355.4(TCN2):c.903C>T (p.Tyr301=)
|
rs146036025
|
0.00026
|
|
NM_000360.4(TH):c.594G>T (p.Val198=)
|
rs544661832
|
0.00026
|
|
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg)
|
rs201613668
|
0.00026
|
|
NM_000392.5(ABCC2):c.3057G>C (p.Gln1019His)
|
rs144521346
|
0.00026
|
|
NM_000419.5(ITGA2B):c.2449-11C>T
|
rs201702898
|
0.00026
|
|
NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val)
|
rs146854942
|
0.00026
|
|
NM_000435.3(NOTCH3):c.3170C>T (p.Ala1057Val)
|
rs368146879
|
0.00026
|
|
NM_000488.4(SERPINC1):c.870C>T (p.Phe290=)
|
rs370190321
|
0.00026
|
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
|
NM_000527.5(LDLR):c.1875C>T (p.Asn625=)
|
rs137853962
|
0.00026
|
|
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=)
|
rs372896479
|
0.00026
|
|
NM_000539.3(RHO):c.919A>T (p.Ile307Phe)
|
rs771322615
|
0.00026
|
|
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)
|
rs370966353
|
0.00026
|
|
NM_000540.3(RYR1):c.5459G>T (p.Arg1820Leu)
|
rs750141316
|
0.00026
|
|
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn)
|
rs138379977
|
0.00026
|
|
NM_000751.3(CHRND):c.651G>A (p.Pro217=)
|
rs146205427
|
0.00026
|
|
NM_001033044.4(GLUL):c.880C>T (p.Leu294=)
|
rs199824213
|
0.00026
|
|
NM_001130004.2(ACTN1):c.2612G>A (p.Arg871His)
|
rs371440985
|
0.00026
|
|
NM_001142864.4(PIEZO1):c.5988A>G (p.Ser1996=)
|
rs370710857
|
0.00026
|
|
NM_001199397.3(NEK1):c.3583+8A>C
|
rs192372022
|
0.00026
|
|
NM_001252024.2(TRPM1):c.2485G>A (p.Glu829Lys)
|
rs200684841
|
0.00026
|
|
NM_001282531.3(ADNP):c.2772G>C (p.Glu924Asp)
|
rs148496595
|
0.00026
|
|
NM_001291303.3(FAT4):c.11040G>A (p.Thr3680=)
|
rs147998041
|
0.00026
|
|
NM_001292063.2(OTOG):c.2385G>T (p.Gly795=)
|
rs564595203
|
0.00026
|
|
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met)
|
rs142524025
|
0.00026
|
|
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg)
|
rs148868421
|
0.00026
|
|
NM_001367624.2(ZNF469):c.10717G>A (p.Gly3573Arg)
|
rs183149417
|
0.00026
|
|
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser)
|
rs137852820
|
0.00026
|
|
NM_001369.3(DNAH5):c.11234A>G (p.His3745Arg)
|
rs36088710
|
0.00026
|
|
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln)
|
rs150868941
|
0.00026
|
|
NM_001378452.1(ITPR1):c.5083G>A (p.Asp1695Asn)
|
rs371186107
|
0.00026
|
|
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=)
|
rs200306249
|
0.00026
|
|
NM_001384732.1(CPLANE1):c.6744A>G (p.Gln2248=)
|
rs142772503
|
0.00026
|
|
NM_001844.5(COL2A1):c.2680-9C>T
|
rs369022247
|
0.00026
|
|
NM_001849.4(COL6A2):c.*5G>A
|
rs377195134
|
0.00026
|
|
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser)
|
rs200496207
|
0.00026
|
|
NM_001875.5(CPS1):c.1569A>G (p.Arg523=)
|
rs140475976
|
0.00026
|
|
NM_001876.4(CPT1A):c.693+7C>T
|
rs370181471
|
0.00026
|
|
NM_001953.5(TYMP):c.676G>A (p.Gly226Arg)
|
rs200497106
|
0.00026
|
|
NM_001999.4(FBN2):c.1850-9C>T
|
rs199937209
|
0.00026
|
|
NM_002292.4(LAMB2):c.2322C>G (p.Thr774=)
|
rs142116851
|
0.00026
|
|
NM_002303.6(LEPR):c.1030G>A (p.Val344Ile)
|
rs145668112
|
0.00026
|
|
NM_002335.4(LRP5):c.4565C>T (p.Pro1522Leu)
|
rs200624778
|
0.00026
|
|
NM_002435.3(MPI):c.1050G>A (p.Thr350=)
|
rs145431554
|
0.00026
|
|
NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys)
|
rs149560153
|
0.00026
|
|
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val)
|
rs145972303
|
0.00026
|
|
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys)
|
rs201399968
|
0.00026
|
|
NM_003331.5(TYK2):c.2670G>C (p.Thr890=)
|
rs144332908
|
0.00026
|
|
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser)
|
rs182216426
|
0.00026
|
|
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met)
|
rs145995735
|
0.00026
|
|
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=)
|
rs146222625
|
0.00026
|
|
NM_004046.6(ATP5F1A):c.248G>A (p.Arg83His)
|
rs146467617
|
0.00026
|
|
NM_004304.5(ALK):c.310C>T (p.Pro104Ser)
|
rs576431612
|
0.00026
|
|
NM_004341.5(CAD):c.4954C>T (p.Arg1652Cys)
|
rs200577574
|
0.00026
|
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
|
NM_004444.5(EPHB4):c.1079G>A (p.Arg360His)
|
rs202006098
|
0.00026
|
|
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu)
|
rs148934350
|
0.00026
|
|
NM_005422.4(TECTA):c.3791A>G (p.Asn1264Ser)
|
rs200871280
|
0.00026
|
|
NM_005535.3(IL12RB1):c.1791+9G>A
|
rs182660189
|
0.00026
|
|
NM_005559.4(LAMA1):c.1796C>T (p.Thr599Met)
|
rs148234507
|
0.00026
|
|
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile)
|
rs143217651
|
0.00026
|
|
NM_005609.4(PYGM):c.2268C>T (p.Pro756=)
|
rs144229867
|
0.00026
|
|
NM_005732.4(RAD50):c.2288G>A (p.Arg763His)
|
rs141989813
|
0.00026
|
|
NM_006496.4(GNAI3):c.509C>T (p.Thr170Ile)
|
rs61754626
|
0.00026
|
|
NM_006892.4(DNMT3B):c.1620G>A (p.Lys540=)
|
rs368295290
|
0.00026
|
|
NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=)
|
rs375734152
|
0.00026
|
|
NM_014141.6(CNTNAP2):c.3174C>G (p.Thr1058=)
|
rs143226012
|
0.00026
|
|
NM_014297.5(ETHE1):c.150G>C (p.Leu50=)
|
rs142193567
|
0.00026
|
|
NM_014844.5(TECPR2):c.978C>T (p.Ser326=)
|
rs142082203
|
0.00026
|
|
NM_015404.4(WHRN):c.2237-10C>G
|
rs200131193
|
0.00026
|
|
NM_015426.5(POC1A):c.159C>T (p.Arg53=)
|
rs377711159
|
0.00026
|
|
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)
|
rs367930028
|
0.00026
|
|
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln)
|
rs199783506
|
0.00026
|
|
NM_018979.4(WNK1):c.5720C>T (p.Pro1907Leu)
|
rs200979623
|
0.00026
|
|
NM_018979.4(WNK1):c.5869C>T (p.Arg1957Cys)
|
rs201766777
|
0.00026
|
|
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)
|
rs142348911
|
0.00026
|
|
NM_021830.5(TWNK):c.689G>T (p.Gly230Val)
|
rs142978552
|
0.00026
|
|
NM_021930.6(RINT1):c.782C>T (p.Pro261Leu)
|
rs199535472
|
0.00026
|
|
NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=)
|
rs201868142
|
0.00026
|
|
NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln)
|
rs199508694
|
0.00026
|
|
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=)
|
rs140255091
|
0.00026
|
|
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
|
rs144688588
|
0.00026
|
|
NM_022437.3(ABCG8):c.1226A>G (p.Asn409Ser)
|
rs150977210
|
0.00026
|
|
NM_022437.3(ABCG8):c.888G>T (p.Ala296=)
|
rs143182625
|
0.00026
|
|
NM_024589.3(ROGDI):c.378G>C (p.Leu126=)
|
rs145588848
|
0.00026
|
|
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg)
|
rs370633684
|
0.00026
|
|
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile)
|
rs139932041
|
0.00026
|
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
|
NM_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val)
|
rs200584854
|
0.00026
|
|
NM_032229.3(SLITRK6):c.1055T>C (p.Ile352Thr)
|
rs199516562
|
0.00026
|
|
NM_033109.5(PNPT1):c.1795T>A (p.Ser599Thr)
|
rs147375807
|
0.00026
|
|
NM_052867.4(NALCN):c.2242G>A (p.Ala748Thr)
|
rs77946954
|
0.00026
|
|
NM_080473.5(GATA5):c.1088A>G (p.Lys363Arg)
|
rs140317494
|
0.00026
|
|
NM_080680.3(COL11A2):c.1636C>G (p.Arg546Gly)
|
rs149697159
|
0.00026
|
|
NM_080680.3(COL11A2):c.434C>G (p.Ala145Gly)
|
rs138305560
|
0.00026
|
|
NM_080680.3(COL11A2):c.5087C>T (p.Thr1696Met)
|
rs570708095
|
0.00026
|
|
NM_138927.4(SON):c.2659G>A (p.Ala887Thr)
|
rs370344763
|
0.00026
|
|
NM_153365.3(TAPT1):c.207A>G (p.Ser69=)
|
rs181652196
|
0.00026
|
|
NM_172362.3(KCNH1):c.2779C>G (p.Leu927Val)
|
rs140435478
|
0.00026
|
|
NM_181523.3(PIK3R1):c.917-1513G>T
|
rs144312303
|
0.00026
|
|
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)
|
rs147719822
|
0.00026
|
|
NM_194248.3(OTOF):c.154G>A (p.Val52Met)
|
rs199992845
|
0.00026
|
|
NM_194248.3(OTOF):c.1960C>T (p.Arg654Trp)
|
rs144259658
|
0.00026
|
|
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys)
|
rs150280500
|
0.00026
|
|
NM_207361.6(FREM2):c.7062G>A (p.Thr2354=)
|
rs41286130
|
0.00026
|
|
NM_207361.6(FREM2):c.9009C>T (p.Val3003=)
|
rs145657148
|
0.00026
|
|
NM_213655.5(WNK1):c.2939G>T (p.Ser980Ile)
|
rs372091476
|
0.00026
|
|
NM_000037.4(ANK1):c.447G>T (p.Ala149=)
|
rs140550365
|
0.00025
|
|
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)
|
rs782268170
|
0.00025
|
|
NM_000053.4(ATP7B):c.1291T>C (p.Cys431Arg)
|
rs145173864
|
0.00025
|
|
NM_000071.3(CBS):c.829-11G>T
|
rs371619788
|
0.00025
|
|
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys)
|
rs117609949
|
0.00025
|
|
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp)
|
rs202078295
|
0.00025
|
|
NM_000094.4(COL7A1):c.3086C>T (p.Thr1029Met)
|
rs376090628
|
0.00025
|
|
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe)
|
rs150935953
|
0.00025
|
|
NM_000130.5(F5):c.2868T>C (p.Tyr956=)
|
rs149067268
|
0.00025
|
|
NM_000135.4(FANCA):c.2799A>G (p.Leu933=)
|
rs148250597
|
0.00025
|
|
NM_000208.4(INSR):c.1179G>A (p.Gly393=)
|
rs140573575
|
0.00025
|
|
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys)
|
rs556901417
|
0.00025
|
|
NM_000343.4(SLC5A1):c.1280+8C>G
|
rs200130719
|
0.00025
|
|
NM_000359.3(TGM1):c.281G>A (p.Gly94Asp)
|
rs121918729
|
0.00025
|
|
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile)
|
rs142163063
|
0.00025
|
|
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=)
|
rs79688066
|
0.00025
|
|
NM_000501.4(ELN):c.930C>T (p.Ala310=)
|
rs147367888
|
0.00025
|
|
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser)
|
rs143398211
|
0.00025
|
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
|
NM_001024630.4(RUNX2):c.531C>G (p.Asn177Lys)
|
rs147359883
|
0.00025
|
|
NM_001035.3(RYR2):c.2574G>A (p.Thr858=)
|
rs367992907
|
0.00025
|
|
NM_001039213.4(CEACAM16):c.116T>A (p.Leu39Gln)
|
rs375722926
|
0.00025
|
|
NM_001077653.2(TBX20):c.414G>A (p.Ser138=)
|
rs144597480
|
0.00025
|
|
NM_001126108.2(SLC12A3):c.1732G>A (p.Val578Met)
|
rs139329616
|
0.00025
|
|
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys)
|
rs200049922
|
0.00025
|
|
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)
|
rs201148126
|
0.00025
|
|
NM_001177316.2(SLC34A3):c.1074G>A (p.Val358=)
|
rs146097023
|
0.00025
|
|
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp)
|
rs201183725
|
0.00025
|
|
NM_001355436.2(SPTB):c.982C>T (p.Arg328Cys)
|
rs143293179
|
0.00025
|
|
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)
|
rs148123430
|
0.00025
|
|
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe)
|
rs151287187
|
0.00025
|
|
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn)
|
rs200650442
|
0.00025
|
|
NM_001458.5(FLNC):c.1757T>C (p.Val586Ala)
|
rs374132023
|
0.00025
|
|
NM_001684.5(ATP2B4):c.1996G>A (p.Ala666Thr)
|
rs138521935
|
0.00025
|
|
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His)
|
rs145698301
|
0.00025
|
|
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)
|
rs373264436
|
0.00025
|
|
NM_002435.3(MPI):c.671-4T>G
|
rs199719453
|
0.00025
|
|
NM_002454.3(MTRR):c.906T>C (p.Asn302=)
|
rs144729918
|
0.00025
|
|
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn)
|
rs34292387
|
0.00025
|
|
NM_002691.4(POLD1):c.3257G>A (p.Arg1086Gln)
|
rs3219457
|
0.00025
|
|
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)
|
rs201676898
|
0.00025
|
|
NM_003193.5(TBCE):c.708T>G (p.Leu236=)
|
rs141498084
|
0.00025
|
|
NM_003849.4(SUCLG1):c.110G>C (p.Gly37Ala)
|
rs369610897
|
0.00025
|
|
NM_004366.6(CLCN2):c.246C>G (p.Phe82Leu)
|
rs140463309
|
0.00025
|
|
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala)
|
rs55997127
|
0.00025
|
|
NM_005045.4(RELN):c.5711C>T (p.Thr1904Met)
|
rs114190729
|
0.00025
|
|
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val)
|
rs139794766
|
0.00025
|
|
NM_005609.4(PYGM):c.612C>T (p.Tyr204=)
|
rs200467937
|
0.00025
|
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
|
NM_006005.3(WFS1):c.772G>A (p.Val258Ile)
|
rs757414862
|
0.00025
|
|
NM_006922.4(SCN3A):c.2121C>T (p.Ser707=)
|
rs370351101
|
0.00025
|
|
NM_012193.4(FZD4):c.118G>C (p.Glu40Gln)
|
rs139401671
|
0.00025
|
|
NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys)
|
rs369339903
|
0.00025
|
|
NM_012434.5(SLC17A5):c.6G>A (p.Arg2=)
|
rs374582872
|
0.00025
|
|
NM_014780.5(CUL7):c.2802C>A (p.Leu934=)
|
rs144926293
|
0.00025
|
|
NM_015158.5(KANK1):c.3554-5T>A
|
rs76738278
|
0.00025
|
|
NM_016239.4(MYO15A):c.7396-8C>G
|
rs370351502
|
0.00025
|
|
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys)
|
rs144147839
|
0.00025
|
|
NM_020738.4(KIDINS220):c.1934C>T (p.Thr645Ile)
|
rs185330217
|
0.00025
|
|
NM_021942.6(TRAPPC11):c.2530C>A (p.Arg844Ser)
|
rs149626892
|
0.00025
|
|
NM_022124.6(CDH23):c.6026T>A (p.Leu2009His)
|
rs201067092
|
0.00025
|
|
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=)
|
rs111033493
|
0.00025
|
|
NM_023036.6(DNAI2):c.1065G>A (p.Lys355=)
|
rs551163932
|
0.00025
|
|
NM_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp)
|
rs145586576
|
0.00025
|
|
NM_032119.4(ADGRV1):c.13186G>A (p.Ala4396Thr)
|
rs201154290
|
0.00025
|
|
NM_032119.4(ADGRV1):c.5578G>A (p.Ala1860Thr)
|
rs369603835
|
0.00025
|
|
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr)
|
rs143632883
|
0.00025
|
|
NM_053025.4(MYLK):c.2253C>T (p.Thr751=)
|
rs138777049
|
0.00025
|
|
NM_152269.5(MTRFR):c.336A>G (p.Leu112=)
|
rs138538426
|
0.00025
|
|
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=)
|
rs140090983
|
0.00025
|
|
NM_153252.5(BRWD3):c.4377A>G (p.Leu1459=)
|
rs138240307
|
0.00025
|
|
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met)
|
rs199473648
|
0.00025
|
|
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu)
|
rs150132765
|
0.00025
|
|
NM_201253.3(CRB1):c.1428C>T (p.Thr476=)
|
rs62636282
|
0.00025
|
|
NM_201253.3(CRB1):c.2230C>A (p.Arg744=)
|
rs150412614
|
0.00025
|
|
NM_201548.5(CERKL):c.60G>A (p.Glu20=)
|
rs556744419
|
0.00025
|
|
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)
|
rs200981928
|
0.00025
|
|
NM_000018.4(ACADVL):c.1751+18G>A
|
rs528002997
|
0.00024
|
|
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)
|
rs201131924
|
0.00024
|
|
NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys)
|
rs147392278
|
0.00024
|
|
NM_000073.3(CD3G):c.511T>C (p.Tyr171His)
|
rs148191859
|
0.00024
|
|
NM_000091.5(COL4A3):c.2168C>T (p.Pro723Leu)
|
rs201198284
|
0.00024
|
|
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu)
|
rs373975901
|
0.00024
|
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
|
NM_000094.4(COL7A1):c.7417G>A (p.Glu2473Lys)
|
rs199819125
|
0.00024
|
|
NM_000095.3(COMP):c.700C>T (p.Pro234Ser)
|
rs557483957
|
0.00024
|
|
NM_000098.3(CPT2):c.1519G>A (p.Val507Ile)
|
rs142600166
|
0.00024
|
|
NM_000124.4(ERCC6):c.1772C>T (p.Pro591Leu)
|
rs115876786
|
0.00024
|
|
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile)
|
rs61753260
|
0.00024
|
|
NM_000135.4(FANCA):c.2589C>A (p.Gly863=)
|
rs72807571
|
0.00024
|
|
NM_000152.5(GAA):c.1552-14C>T
|
rs199715011
|
0.00024
|
|
NM_000154.2(GALK1):c.447G>A (p.Thr149=)
|
rs765744088
|
0.00024
|
|
NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser)
|
rs144941693
|
0.00024
|
|
NM_000204.5(CFI):c.719C>G (p.Ala240Gly)
|
rs146444258
|
0.00024
|
|
NM_000211.5(ITGB2):c.1575C>T (p.Pro525=)
|
rs200615045
|
0.00024
|
|
NM_000233.4(LHCGR):c.1797C>A (p.Ile599=)
|
rs143697410
|
0.00024
|
|
NM_000243.3(MEFV):c.1677C>T (p.Leu559=)
|
rs144672997
|
0.00024
|
|
NM_000246.4(CIITA):c.2817-10T>C
|
rs75381106
|
0.00024
|
|
NM_000255.4(MMUT):c.1008G>A (p.Met336Ile)
|
rs150095448
|
0.00024
|
|
NM_000275.3(OCA2):c.29G>A (p.Arg10Gln)
|
rs199752361
|
0.00024
|
|
NM_000294.3(PHKG2):c.360A>G (p.Thr120=)
|
rs149163610
|
0.00024
|
|
NM_000304.4(PMP22):c.320-4C>T
|
rs377467465
|
0.00024
|
|
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys)
|
rs75731670
|
0.00024
|
|
NM_000342.4(SLC4A1):c.337G>A (p.Val113Ile)
|
rs142757938
|
0.00024
|
|
NM_000352.6(ABCC8):c.105G>A (p.Pro35=)
|
rs199925058
|
0.00024
|
|
NM_000376.3(VDR):c.146+9dup
|
rs748166237
|
0.00024
|
|
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met)
|
rs201034755
|
0.00024
|
|
NM_000392.5(ABCC2):c.469-9T>C
|
rs147614414
|
0.00024
|
|
NM_000399.5(EGR2):c.192G>C (p.Met64Ile)
|
rs146631014
|
0.00024
|
|
NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg)
|
rs139739075
|
0.00024
|
|
NM_000443.4(ABCB4):c.3000T>C (p.Ala1000=)
|
rs1057495486
|
0.00024
|
|
NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe)
|
rs199553519
|
0.00024
|
|
NM_000452.3(SLC10A2):c.561C>G (p.Pro187=)
|
rs139517943
|
0.00024
|
|
NM_000481.4(AMT):c.152C>T (p.Ala51Val)
|
rs34812788
|
0.00024
|
|
NM_000501.4(ELN):c.861G>A (p.Gly287=)
|
rs368610108
|
0.00024
|
|
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)
|
rs137960127
|
0.00024
|
|
NM_001008216.2(GALE):c.423C>T (p.Tyr141=)
|
rs138518245
|
0.00024
|
|
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)
|
rs377293019
|
0.00024
|
|
NM_001039348.3(EFEMP1):c.1413C>T (p.Ser471=)
|
rs374690853
|
0.00024
|
|
NM_001040436.3(YARS2):c.928C>T (p.Pro310Ser)
|
rs199885274
|
0.00024
|
|
NM_001040716.2(PC):c.715A>G (p.Ile239Val)
|
rs148805312
|
0.00024
|
|
NM_001042681.2(RERE):c.1964C>T (p.Ala655Val)
|
rs149900041
|
0.00024
|
|
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)
|
rs139334561
|
0.00024
|
|
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)
|
rs199512932
|
0.00024
|
|
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu)
|
rs372880553
|
0.00024
|
|
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser)
|
rs149768871
|
0.00024
|
|
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser)
|
rs200271618
|
0.00024
|
|
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile)
|
rs564395221
|
0.00024
|
|
NM_001164508.2(NEB):c.22108C>G (p.Pro7370Ala)
|
rs200304547
|
0.00024
|
|
NM_001166114.2(PNPLA6):c.3699+9G>A
|
rs201144113
|
0.00024
|
|
NM_001193315.2(VIPAS39):c.1071C>T (p.Asn357=)
|
rs138544284
|
0.00024
|
|
NM_001199397.3(NEK1):c.1617G>A (p.Gln539=)
|
rs146569517
|
0.00024
|
|
NM_001206744.2(TPO):c.2524G>A (p.Gly842Arg)
|
rs201659055
|
0.00024
|
|
NM_001243279.3(ACSF3):c.1502-4G>A
|
rs111414659
|
0.00024
|
|
NM_001277115.2(DNAH11):c.3853-5C>G
|
rs367628980
|
0.00024
|
|
NM_001277115.2(DNAH11):c.4945-12T>C
|
rs141572016
|
0.00024
|
|
NM_001278716.2(FBXL4):c.79A>G (p.Thr27Ala)
|
rs142853738
|
0.00024
|
|
NM_001350451.2(RBFOX3):c.347G>A (p.Arg116Gln)
|
rs199891032
|
0.00024
|
|
NM_001363711.2(DUOX2):c.2725C>T (p.Arg909Trp)
|
rs150698607
|
0.00024
|
|
NM_001368894.2(PAX6):c.985T>C (p.Leu329=)
|
rs373147550
|
0.00024
|
|
NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr)
|
rs143295106
|
0.00024
|
|
NM_001369.3(DNAH5):c.13174T>C (p.Phe4392Leu)
|
rs369714206
|
0.00024
|
|
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met)
|
rs187023993
|
0.00024
|
|
NM_001374828.1(ARID1B):c.2379T>C (p.His793=)
|
rs370364530
|
0.00024
|
|
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys)
|
rs199541807
|
0.00024
|
|
NM_001377.3(DYNC2H1):c.8311+10A>G
|
rs376842066
|
0.00024
|
|
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=)
|
rs143566075
|
0.00024
|
|
NM_001457.4(FLNB):c.4062-13C>G
|
rs143371162
|
0.00024
|
|
NM_001558.4(IL10RA):c.96G>A (p.Val32=)
|
rs377525753
|
0.00024
|
|
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)
|
rs145042175
|
0.00024
|
|
NM_001846.4(COL4A2):c.608A>T (p.His203Leu)
|
rs201716258
|
0.00024
|
|
NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu)
|
rs143531636
|
0.00024
|
|
NM_002335.4(LRP5):c.1738G>A (p.Val580Ile)
|
rs149524398
|
0.00024
|
|
NM_002473.6(MYH9):c.2591C>T (p.Ala864Val)
|
rs142467329
|
0.00024
|
|
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp)
|
rs201613746
|
0.00024
|
|
NM_003105.6(SORL1):c.4360C>T (p.Pro1454Ser)
|
rs201304369
|
0.00024
|
|
NM_003119.4(SPG7):c.1359G>A (p.Ala453=)
|
rs115448299
|
0.00024
|
|
NM_003126.4(SPTA1):c.329A>T (p.Glu110Val)
|
rs368253777
|
0.00024
|
|
NM_003560.4(PLA2G6):c.773C>T (p.Ser258Leu)
|
rs147924368
|
0.00024
|
|
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=)
|
rs142938290
|
0.00024
|
|
NM_003737.4(DCHS1):c.9797C>T (p.Pro3266Leu)
|
rs61735331
|
0.00024
|
|
NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys)
|
rs200148505
|
0.00024
|
|
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly)
|
rs200124902
|
0.00024
|
|
NM_004239.4(TRIP11):c.5889G>A (p.Ala1963=)
|
rs142075650
|
0.00024
|
|
NM_004366.6(CLCN2):c.2062C>T (p.Arg688Trp)
|
rs368380934
|
0.00024
|
|
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val)
|
rs369104842
|
0.00024
|
|
NM_004525.3(LRP2):c.5107C>T (p.Pro1703Ser)
|
rs141260047
|
0.00024
|
|
NM_004560.4(ROR2):c.1671G>A (p.Ser557=)
|
rs201232887
|
0.00024
|
|
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg)
|
rs143050366
|
0.00024
|
|
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile)
|
rs377156351
|
0.00024
|
|
NM_005518.4(HMGCS2):c.570C>T (p.Ala190=)
|
rs201735169
|
0.00024
|
|
NM_005529.7(HSPG2):c.11853A>G (p.Leu3951=)
|
rs138957986
|
0.00024
|
|
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=)
|
rs372508479
|
0.00024
|
|
NM_005560.6(LAMA5):c.6206C>T (p.Pro2069Leu)
|
rs201193135
|
0.00024
|
|
NM_005787.6(ALG3):c.933-4C>T
|
rs190571910
|
0.00024
|
|
NM_006206.6(PDGFRA):c.801A>G (p.Pro267=)
|
rs55966236
|
0.00024
|
|
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser)
|
rs137860861
|
0.00024
|
|
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)
|
rs201115064
|
0.00024
|
|
NM_006486.3(FBLN1):c.1074C>T (p.Asp358=)
|
rs147528917
|
0.00024
|
|
NM_006922.4(SCN3A):c.4335T>C (p.Tyr1445=)
|
rs145492863
|
0.00024
|
|
NM_007315.4(STAT1):c.1248C>G (p.Gly416=)
|
rs140787216
|
0.00024
|
|
NM_007347.5(AP4E1):c.1624A>G (p.Met542Val)
|
rs542940704
|
0.00024
|
|
NM_012301.4(MAGI2):c.411G>A (p.Thr137=)
|
rs149568072
|
0.00024
|
|
NM_012418.4(FSCN2):c.867C>T (p.His289=)
|
rs368687488
|
0.00024
|
|
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys)
|
rs61978562
|
0.00024
|
|
NM_014915.3(ANKRD26):c.3761A>G (p.Asp1254Gly)
|
rs368705077
|
0.00024
|
|
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)
|
rs142053576
|
0.00024
|
|
NM_016004.5(IFT52):c.775G>C (p.Asp259His)
|
rs149821266
|
0.00024
|
|
NM_016239.4(MYO15A):c.10076C>T (p.Pro3359Leu)
|
rs201763265
|
0.00024
|
|
NM_016341.4(PLCE1):c.1295C>G (p.Ala432Gly)
|
rs200380935
|
0.00024
|
|
NM_017547.4(FOXRED1):c.1252C>G (p.Gln418Glu)
|
rs201261500
|
0.00024
|
|
NM_019066.5(MAGEL2):c.135T>A (p.Asp45Glu)
|
rs1273933786
|
0.00024
|
|
NM_020549.5(CHAT):c.858C>T (p.Thr286=)
|
rs200423662
|
0.00024
|
|
NM_020754.4(ARHGAP31):c.435C>G (p.Thr145=)
|
rs201927115
|
0.00024
|
|
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu)
|
rs372367313
|
0.00024
|
|
NM_022367.4(SEMA4A):c.1086A>C (p.Ser362=)
|
rs145993678
|
0.00024
|
|
NM_022726.4(ELOVL4):c.651C>T (p.Tyr217=)
|
rs199860277
|
0.00024
|
|
NM_024105.4(ALG12):c.470-11C>T
|
rs375328311
|
0.00024
|
|
NM_024407.5(NDUFS7):c.456-16G>A
|
rs370241999
|
0.00024
|
|
NM_024422.6(DSC2):c.857G>T (p.Gly286Val)
|
rs199682735
|
0.00024
|
|
NM_025099.6(CTC1):c.34-9T>G
|
rs201195157
|
0.00024
|
|
NM_025099.6(CTC1):c.862G>A (p.Val288Met)
|
rs201553464
|
0.00024
|
|
NM_025137.4(SPG11):c.491C>T (p.Ser164Leu)
|
rs148175530
|
0.00024
|
|
NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg)
|
rs200719553
|
0.00024
|
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
|
NM_032444.4(SLX4):c.4590G>A (p.Met1530Ile)
|
rs147315419
|
0.00024
|
|
NM_032444.4(SLX4):c.742G>A (p.Glu248Lys)
|
rs148547201
|
0.00024
|
|
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile)
|
rs139155910
|
0.00024
|
|
NM_032833.5(PPP1R15B):c.308A>G (p.Tyr103Cys)
|
rs137955986
|
0.00024
|
|
NM_033100.4(CDHR1):c.689C>T (p.Thr230Ile)
|
rs141173656
|
0.00024
|
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
|
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp)
|
rs149071920
|
0.00024
|
|
NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly)
|
rs149693840
|
0.00024
|
|
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro)
|
rs139819353
|
0.00024
|
|
NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=)
|
rs148817026
|
0.00024
|
|
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)
|
rs78683075
|
0.00024
|
|
NM_153033.5(KCTD7):c.687T>C (p.Asp229=)
|
rs372150992
|
0.00024
|
|
NM_175914.5(HNF4A):c.582+20G>C
|
rs370794722
|
0.00024
|
|
NM_194248.3(OTOF):c.327+5G>T
|
rs370643920
|
0.00024
|
|
NM_194248.3(OTOF):c.5083G>A (p.Asp1695Asn)
|
rs144422709
|
0.00024
|
|
NM_198525.3(KIF7):c.2613G>A (p.Glu871=)
|
rs370595622
|
0.00024
|
|
NM_206933.4(USH2A):c.14642G>C (p.Ser4881Thr)
|
rs200949691
|
0.00024
|
|
NM_213655.5(WNK1):c.3371G>A (p.Gly1124Glu)
|
rs201042606
|
0.00024
|
|
NM_000064.4(C3):c.1873A>T (p.Ile625Phe)
|
rs144432231
|
0.00023
|
|
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)
|
rs139955975
|
0.00023
|
|
NM_000091.5(COL4A3):c.532G>A (p.Ala178Thr)
|
rs188324379
|
0.00023
|
|
NM_000143.4(FH):c.4T>C (p.Tyr2His)
|
rs112335468
|
0.00023
|
|
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala)
|
rs200219480
|
0.00023
|
|
NM_000190.4(HMBS):c.380C>A (p.Pro127Gln)
|
rs200998739
|
0.00023
|
|
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)
|
rs201839693
|
0.00023
|
|
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile)
|
rs369539923
|
0.00023
|
|
NM_000277.3(PAH):c.1161C>T (p.Tyr387=)
|
rs149595475
|
0.00023
|
|
NM_000290.4(PGAM2):c.288A>G (p.Thr96=)
|
rs139561812
|
0.00023
|
|
NM_000335.5(SCN5A):c.496G>A (p.Ala166Thr)
|
rs201232332
|
0.00023
|
|
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)
|
rs149455643
|
0.00023
|
|
NM_000718.4(CACNA1B):c.5869C>T (p.Arg1957Cys)
|
rs200598077
|
0.00023
|
|
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=)
|
rs143592561
|
0.00023
|
|
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)
|
rs201819948
|
0.00023
|
|
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys)
|
rs34591340
|
0.00023
|
|
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser)
|
rs77826191
|
0.00023
|
|
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=)
|
rs35016946
|
0.00023
|
|
NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=)
|
rs553088930
|
0.00023
|
|
NM_001193315.2(VIPAS39):c.171C>G (p.Val57=)
|
rs144120903
|
0.00023
|
|
NM_001206979.2(NR1H4):c.438G>A (p.Gly146=)
|
rs137946171
|
0.00023
|
|
NM_001235.5(SERPINH1):c.293G>A (p.Ser98Asn)
|
rs541595707
|
0.00023
|
|
NM_001277115.2(DNAH11):c.12601C>T (p.Pro4201Ser)
|
rs200166341
|
0.00023
|
|
NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His)
|
rs377388499
|
0.00023
|
|
NM_001277115.2(DNAH11):c.618G>C (p.Met206Ile)
|
rs374350787
|
0.00023
|
|
NM_001291303.3(FAT4):c.7196T>C (p.Ile2399Thr)
|
rs140285782
|
0.00023
|
|
NM_001292063.2(OTOG):c.2350A>C (p.Thr784Pro)
|
rs778687487
|
0.00023
|
|
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=)
|
rs138441172
|
0.00023
|
|
NM_001378414.1(HDAC4):c.3058C>T (p.Arg1020Cys)
|
rs201219118
|
0.00023
|
|
NM_001378452.1(ITPR1):c.532A>G (p.Ile178Val)
|
rs188477537
|
0.00023
|
|
NM_001378452.1(ITPR1):c.5365G>A (p.Gly1789Arg)
|
rs373359869
|
0.00023
|
|
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=)
|
rs371329585
|
0.00023
|
|
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn)
|
rs374411782
|
0.00023
|
|
NM_001395413.1(POR):c.1482G>T (p.Leu494=)
|
rs370326231
|
0.00023
|
|
NM_001457.4(FLNB):c.4966G>C (p.Asp1656His)
|
rs574654024
|
0.00023
|
|
NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp)
|
rs201396764
|
0.00023
|
|
NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr)
|
rs527738649
|
0.00023
|
|
NM_001844.5(COL2A1):c.3699C>T (p.Pro1233=)
|
rs141944722
|
0.00023
|
|
NM_002529.4(NTRK1):c.641G>A (p.Arg214Gln)
|
rs200132482
|
0.00023
|
|
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu)
|
rs372950890
|
0.00023
|
|
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)
|
rs150775371
|
0.00023
|
|
NM_003742.4(ABCB11):c.23G>A (p.Arg8Gln)
|
rs368985605
|
0.00023
|
|
NM_003742.4(ABCB11):c.506G>A (p.Arg169His)
|
rs200870815
|
0.00023
|
|
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg)
|
rs587782484
|
0.00023
|
|
NM_004752.4(GCM2):c.1395C>T (p.His465=)
|
rs139538731
|
0.00023
|
|
NM_005101.4(ISG15):c.296G>A (p.Arg99Gln)
|
rs374404353
|
0.00023
|
|
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=)
|
rs138459752
|
0.00023
|
|
NM_005529.7(HSPG2):c.8025+20C>T
|
rs146363738
|
0.00023
|
|
NM_005676.5(RBM10):c.2175G>T (p.Pro725=)
|
rs137940243
|
0.00023
|
|
NM_006005.3(WFS1):c.2250C>T (p.Ala750=)
|
rs369498603
|
0.00023
|
|
NM_006231.4(POLE):c.5379-19C>T
|
rs376722984
|
0.00023
|
|
NM_006231.4(POLE):c.691C>T (p.Arg231Cys)
|
rs146592584
|
0.00023
|
|
NM_006231.4(POLE):c.761C>T (p.Pro254Leu)
|
rs200211438
|
0.00023
|
|
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)
|
rs541943893
|
0.00023
|
|
NM_014391.3(ANKRD1):c.652-10A>T
|
rs397517252
|
0.00023
|
|
NM_014855.3(AP5Z1):c.1785G>T (p.Gly595=)
|
rs774921196
|
0.00023
|
|
NM_015192.4(PLCB1):c.714A>C (p.Pro238=)
|
rs147567110
|
0.00023
|
|
NM_015340.4(LARS2):c.338G>A (p.Arg113Gln)
|
rs138437422
|
0.00023
|
|
NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly)
|
rs144420157
|
0.00023
|
|
NM_017636.4(TRPM4):c.1836G>A (p.Arg612=)
|
rs112589404
|
0.00023
|
|
NM_017654.4(SAMD9):c.1880del (p.Ser627fs)
|
rs767270627
|
0.00023
|
|
NM_018249.6(CDK5RAP2):c.923C>T (p.Thr308Ile)
|
rs145272328
|
0.00023
|
|
NM_018668.5(VPS33B):c.1658-7C>T
|
rs375376103
|
0.00023
|
|
NM_018668.5(VPS33B):c.240-9C>T
|
rs781107857
|
0.00023
|
|
NM_020549.5(CHAT):c.754C>T (p.His252Tyr)
|
rs376994468
|
0.00023
|
|
NM_021076.4(NEFH):c.1036C>T (p.Arg346Cys)
|
rs139219355
|
0.00023
|
|
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met)
|
rs201297042
|
0.00023
|
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
|
NM_024996.7(GFM1):c.373G>A (p.Val125Met)
|
rs200923387
|
0.00023
|
|
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)
|
rs144095826
|
0.00023
|
|
NM_052867.4(NALCN):c.722C>T (p.Pro241Leu)
|
rs764444847
|
0.00023
|
|
NM_080916.3(DGUOK):c.664C>T (p.Leu222=)
|
rs375686551
|
0.00023
|
|
NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln)
|
rs140781915
|
0.00023
|
|
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=)
|
rs201650333
|
0.00023
|
|
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys)
|
rs144702281
|
0.00023
|
|
NM_183357.3(ADCY5):c.2645C>T (p.Ala882Val)
|
rs112913957
|
0.00023
|
|
NM_194454.3(KRIT1):c.1326C>G (p.Thr442=)
|
rs150912644
|
0.00023
|
|
NM_198578.4(LRRK2):c.6801C>T (p.Thr2267=)
|
rs148143226
|
0.00023
|
|
NM_198904.4(GABRG2):c.922+6A>G
|
rs375294947
|
0.00023
|
|
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)
|
rs150982499
|
0.00023
|
|
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)
|
rs150230450
|
0.00023
|
|
NM_212552.3(BOLA3):c.137G>A (p.Arg46Gln)
|
rs144366005
|
0.00023
|
|
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser)
|
rs2235011
|
0.00022
|
|
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=)
|
rs200324179
|
0.00022
|
|
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly)
|
rs68071147
|
0.00022
|
|
NM_000081.4(LYST):c.2754G>A (p.Glu918=)
|
rs373577384
|
0.00022
|
|
NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr)
|
rs201665434
|
0.00022
|
|
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)
|
rs200512461
|
0.00022
|
|
NM_000098.3(CPT2):c.912G>T (p.Gln304His)
|
rs141553491
|
0.00022
|
|
NM_000108.5(DLD):c.321A>G (p.Ala107=)
|
rs138398782
|
0.00022
|
|
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly)
|
rs146491000
|
0.00022
|
|
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=)
|
rs143772894
|
0.00022
|
|
NM_000137.4(FAH):c.747A>G (p.Pro249=)
|
rs138757552
|
0.00022
|
|
NM_000143.4(FH):c.1237-7C>T
|
rs376260223
|
0.00022
|
|
NM_000143.4(FH):c.7C>G (p.Arg3Gly)
|
rs202166344
|
0.00022
|
|
NM_000181.4(GUSB):c.1240C>T (p.Leu414=)
|
rs150686327
|
0.00022
|
|
NM_000222.3(KIT):c.2349C>T (p.Leu783=)
|
rs151046591
|
0.00022
|
|
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala)
|
rs143793106
|
0.00022
|
|
NM_000260.4(MYO7A):c.2208G>A (p.Leu736=)
|
rs373599360
|
0.00022
|
|
NM_000260.4(MYO7A):c.6546C>T (p.Cys2182=)
|
rs185748200
|
0.00022
|
|
NM_000301.5(PLG):c.1499C>T (p.Thr500Met)
|
rs140970354
|
0.00022
|
|
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=)
|
rs376624031
|
0.00022
|
|
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)
|
rs139486832
|
0.00022
|
|
NM_000360.4(TH):c.12C>T (p.Pro4=)
|
rs147131010
|
0.00022
|
|
NM_000361.3(THBD):c.282C>G (p.Pro94=)
|
rs538290084
|
0.00022
|
|
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg)
|
rs148012328
|
0.00022
|
|
NM_000392.5(ABCC2):c.1602G>T (p.Lys534Asn)
|
rs149593061
|
0.00022
|
|
NM_000428.3(LTBP2):c.5402G>A (p.Arg1801His)
|
rs143010135
|
0.00022
|
|
NM_000532.5(PCCB):c.544-5G>C
|
rs372351800
|
0.00022
|
|
NM_000537.4(REN):c.961-5C>A
|
rs186717113
|
0.00022
|
|
NM_000540.3(RYR1):c.548C>T (p.Thr183Ile)
|
rs150038701
|
0.00022
|
|
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=)
|
rs374630822
|
0.00022
|
|
NM_000550.3(TYRP1):c.1138G>T (p.Ala380Ser)
|
rs184910238
|
0.00022
|
|
NM_000787.4(DBH):c.291C>T (p.Asn97=)
|
rs75734048
|
0.00022
|
|
NM_000875.5(IGF1R):c.1500G>A (p.Thr500=)
|
rs370500527
|
0.00022
|
|
NM_001113525.2(ZNF276):c.*1862C>T
|
rs776077648
|
0.00022
|
|
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)
|
rs375354077
|
0.00022
|
|
NM_001160372.4(TRAPPC9):c.3411C>A (p.Pro1137=)
|
rs373979305
|
0.00022
|
|
NM_001160372.4(TRAPPC9):c.370A>G (p.Ile124Val)
|
rs117688394
|
0.00022
|
|
NM_001164508.2(NEB):c.17845-5G>A
|
rs373390654
|
0.00022
|
|
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp)
|
rs201189784
|
0.00022
|
|
NM_001256715.2(DNAAF3):c.1049-1G>A
|
rs199590885
|
0.00022
|
|
NM_001277115.2(DNAH11):c.2102A>G (p.Asn701Ser)
|
rs369770445
|
0.00022
|
|
NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp)
|
rs201944089
|
0.00022
|
|
NM_001297.5(CNGB1):c.838-4G>T
|
rs375539469
|
0.00022
|
|
NM_001298.3(CNGA3):c.473C>T (p.Ala158Val)
|
rs138934573
|
0.00022
|
|
NM_001353108.3(CEP63):c.572G>A (p.Arg191Gln)
|
rs529386244
|
0.00022
|
|
NM_001358263.1(HK1):c.-196+1241G>A
|
rs545102911
|
0.00022
|
|
NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=)
|
rs273585633
|
0.00022
|
|
NM_001367624.2(ZNF469):c.1522G>A (p.Ala508Thr)
|
rs750005577
|
0.00022
|
|
NM_001367721.1(CASK):c.356+6T>C
|
rs200402760
|
0.00022
|
|
NM_001374828.1(ARID1B):c.2205A>T (p.Glu735Asp)
|
rs139125255
|
0.00022
|
|
NM_001377.3(DYNC2H1):c.10043-7T>A
|
rs376067770
|
0.00022
|
|
NM_001378414.1(HDAC4):c.2151G>A (p.Gln717=)
|
rs138137158
|
0.00022
|
|
NM_001379180.1(ESRRB):c.952G>A (p.Asp318Asn)
|
rs201344770
|
0.00022
|
|
NM_001457.4(FLNB):c.1588G>T (p.Gly530Trp)
|
rs773943113
|
0.00022
|
|
NM_001457.4(FLNB):c.3052G>A (p.Val1018Met)
|
rs2276742
|
0.00022
|
|
NM_001498.4(GCLC):c.1091A>G (p.Asp364Gly)
|
rs151321990
|
0.00022
|
|
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)
|
rs63751100
|
0.00022
|
|
NM_002291.3(LAMB1):c.2152G>A (p.Val718Met)
|
rs142742847
|
0.00022
|
|
NM_002335.4(LRP5):c.639C>T (p.Asp213=)
|
rs150859573
|
0.00022
|
|
NM_002435.3(MPI):c.573C>T (p.Ala191=)
|
rs200903491
|
0.00022
|
|
NM_002546.4(TNFRSF11B):c.96C>T (p.Asp32=)
|
rs4876870
|
0.00022
|
|
NM_002617.4(PEX10):c.611G>A (p.Arg204His)
|
rs199934621
|
0.00022
|
|
NM_002887.4(RARS1):c.1465G>A (p.Glu489Lys)
|
rs11557638
|
0.00022
|
|
NM_002972.4(SBF1):c.2464G>A (p.Val822Ile)
|
rs201061231
|
0.00022
|
|
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg)
|
rs114854791
|
0.00022
|
|
NM_004360.5(CDH1):c.2589C>T (p.Asn863=)
|
rs115817750
|
0.00022
|
|
NM_004360.5(CDH1):c.33G>C (p.Leu11=)
|
rs730881654
|
0.00022
|
|
NM_004820.5(CYP7B1):c.522T>C (p.Ser174=)
|
rs371522442
|
0.00022
|
|
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)
|
rs139901585
|
0.00022
|
|
NM_005198.5(CHKB):c.263C>T (p.Pro88Leu)
|
rs146163970
|
0.00022
|
|
NM_005422.4(TECTA):c.2827C>A (p.Leu943Met)
|
rs139158022
|
0.00022
|
|
NM_005609.4(PYGM):c.2177+7G>A
|
rs201366697
|
0.00022
|
|
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)
|
rs201064551
|
0.00022
|
|
NM_006015.6(ARID1A):c.5491C>G (p.Leu1831Val)
|
rs150534917
|
0.00022
|
|
NM_006017.3(PROM1):c.2271C>T (p.Ile757=)
|
rs375986111
|
0.00022
|
|
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=)
|
rs150788130
|
0.00022
|
|
NM_006516.4(SLC2A1):c.805C>T (p.Arg269Cys)
|
rs200247956
|
0.00022
|
|
NM_014014.5(SNRNP200):c.46-7T>C
|
rs373701482
|
0.00022
|
|
NM_014140.4(SMARCAL1):c.1001G>A (p.Arg334Gln)
|
rs138575228
|
0.00022
|
|
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=)
|
rs200210415
|
0.00022
|
|
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala)
|
rs372022664
|
0.00022
|
|
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)
|
rs147949881
|
0.00022
|
|
NM_014780.5(CUL7):c.981C>T (p.Pro327=)
|
rs144880219
|
0.00022
|
|
NM_015311.3(OBSL1):c.1283-9G>A
|
rs376967214
|
0.00022
|
|
NM_018979.4(WNK1):c.865T>C (p.Ser289Pro)
|
rs200234585
|
0.00022
|
|
NM_020247.5(COQ8A):c.1900G>A (p.Glu634Lys)
|
rs149335528
|
0.00022
|
|
NM_020533.3(MCOLN1):c.1359+13C>T
|
rs143068910
|
0.00022
|
|
NM_020754.4(ARHGAP31):c.2323G>A (p.Gly775Ser)
|
rs147415811
|
0.00022
|
|
NM_021098.3(CACNA1H):c.2039G>A (p.Ser680Asn)
|
rs371925462
|
0.00022
|
|
NM_021098.3(CACNA1H):c.6721G>A (p.Gly2241Arg)
|
rs200606995
|
0.00022
|
|
NM_022095.4(ZNF335):c.808C>T (p.Arg270Cys)
|
rs145110365
|
0.00022
|
|
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile)
|
rs369697366
|
0.00022
|
|
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=)
|
rs139915367
|
0.00022
|
|
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr)
|
rs199918720
|
0.00022
|
|
NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu)
|
rs533077805
|
0.00022
|
|
NM_025000.4(DCAF17):c.533G>A (p.Arg178Gln)
|
rs202231211
|
0.00022
|
|
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=)
|
rs369209127
|
0.00022
|
|
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val)
|
rs200220848
|
0.00022
|
|
NM_030773.4(TUBB1):c.578T>C (p.Ile193Thr)
|
rs141698221
|
0.00022
|
|
NM_031220.4(PITPNM3):c.1124C>T (p.Pro375Leu)
|
rs138671220
|
0.00022
|
|
NM_032040.5(CCDC8):c.43C>T (p.Arg15Trp)
|
rs200189331
|
0.00022
|
|
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys)
|
rs182452385
|
0.00022
|
|
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg)
|
rs547624231
|
0.00022
|
|
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)
|
rs147187907
|
0.00022
|
|
NM_053025.4(MYLK):c.842A>G (p.Lys281Arg)
|
rs147770839
|
0.00022
|
|
NM_054027.6(ANKH):c.1042G>A (p.Val348Met)
|
rs148228793
|
0.00022
|
|
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe)
|
rs200243596
|
0.00022
|
|
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala)
|
rs142971568
|
0.00022
|
|
NM_153676.4(USH1C):c.2039C>A (p.Pro680Gln)
|
rs187147906
|
0.00022
|
|
NM_170682.4(P2RX2):c.381+2T>C
|
rs200978001
|
0.00022
|
|
NM_178452.6(DNAAF1):c.1083C>T (p.Gly361=)
|
rs200487337
|
0.00022
|
|
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln)
|
rs182849552
|
0.00022
|
|
NM_198578.4(LRRK2):c.1324C>T (p.His442Tyr)
|
rs568593066
|
0.00022
|
|
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly)
|
rs147374057
|
0.00022
|
|
NM_000038.6(APC):c.564A>G (p.Gln188=)
|
rs377493489
|
0.00021
|
|
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)
|
rs780049836
|
0.00021
|
|
NM_000051.4(ATM):c.4871A>G (p.His1624Arg)
|
rs56354559
|
0.00021
|
|
NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala)
|
rs200765341
|
0.00021
|
|
NM_000070.3(CAPN3):c.1818G>A (p.Ser606=)
|
rs28364528
|
0.00021
|
|
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys)
|
rs140268343
|
0.00021
|
|
NM_000081.4(LYST):c.4006+8G>A
|
rs369153654
|
0.00021
|
|
NM_000081.4(LYST):c.9045-13T>C
|
rs181450025
|
0.00021
|
|
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val)
|
rs76636743
|
0.00021
|
|
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys)
|
rs371904688
|
0.00021
|
|
NM_000094.4(COL7A1):c.1241-4G>A
|
rs201605314
|
0.00021
|
|
NM_000094.4(COL7A1):c.923T>C (p.Ile308Thr)
|
rs145738101
|
0.00021
|
|
NM_000096.4(CP):c.1104G>C (p.Gly368=)
|
rs142503847
|
0.00021
|
|
NM_000130.5(F5):c.2864G>T (p.Ser955Ile)
|
rs199507543
|
0.00021
|
|
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=)
|
rs202107465
|
0.00021
|
|
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)
|
rs142784426
|
0.00021
|
|
NM_000151.4(G6PC1):c.909C>T (p.Leu303=)
|
rs368282218
|
0.00021
|
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
|
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)
|
rs148311222
|
0.00021
|
|
NM_000152.5(GAA):c.2323C>A (p.Leu775Met)
|
rs147290429
|
0.00021
|
|
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp)
|
rs76077021
|
0.00021
|
|
NM_000246.4(CIITA):c.2892G>A (p.Leu964=)
|
rs200599265
|
0.00021
|
|
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)
|
rs41298759
|
0.00021
|
|
NM_000335.5(SCN5A):c.4591G>A (p.Val1531Ile)
|
rs199473618
|
0.00021
|
|
NM_000350.3(ABCA4):c.3568G>A (p.Ala1190Thr)
|
rs368692594
|
0.00021
|
|
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=)
|
rs138831474
|
0.00021
|
|
NM_000355.4(TCN2):c.522C>T (p.Ser174=)
|
rs537115632
|
0.00021
|
|
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr)
|
rs201736972
|
0.00021
|
|
NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys)
|
rs374888837
|
0.00021
|
|
NM_000428.3(LTBP2):c.2657C>A (p.Thr886Lys)
|
rs201591982
|
0.00021
|
|
NM_000448.3(RAG1):c.1064T>C (p.Met355Thr)
|
rs151077440
|
0.00021
|
|
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val)
|
rs145350631
|
0.00021
|
|
NM_000506.5(F2):c.495G>A (p.Thr165=)
|
rs144857547
|
0.00021
|
|
NM_000512.5(GALNS):c.771C>T (p.Ala257=)
|
rs370586494
|
0.00021
|
|
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)
|
rs147021347
|
0.00021
|
|
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg)
|
rs150177278
|
0.00021
|
|
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=)
|
rs369917806
|
0.00021
|
|
NM_001035.3(RYR2):c.577-14G>A
|
rs148019277
|
0.00021
|
|
NM_001039141.3(TRIOBP):c.6360C>T (p.Ser2120=)
|
rs375936342
|
0.00021
|
|
NM_001040716.2(PC):c.1446C>T (p.Asp482=)
|
rs145891535
|
0.00021
|
|
NM_001042545.2(LTBP4):c.3610G>A (p.Val1204Met)
|
rs200036888
|
0.00021
|
|
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)
|
rs139529811
|
0.00021
|
|
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)
|
rs150834671
|
0.00021
|
|
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg)
|
rs143562525
|
0.00021
|
|
NM_001142800.2(EYS):c.6876T>C (p.Asn2292=)
|
rs774188028
|
0.00021
|
|
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr)
|
rs142210216
|
0.00021
|
|
NM_001164508.2(NEB):c.21664T>A (p.Ser7222Thr)
|
rs191722579
|
0.00021
|
|
NM_001194998.2(CEP152):c.2920C>A (p.Gln974Lys)
|
rs370745843
|
0.00021
|
|
NM_001244926.2(PRPF4):c.1504G>A (p.Asp502Asn)
|
rs141207203
|
0.00021
|
|
NM_001277115.2(DNAH11):c.2419G>C (p.Asp807His)
|
rs369849556
|
0.00021
|
|
NM_001277115.2(DNAH11):c.2499C>T (p.Asn833=)
|
rs201231307
|
0.00021
|
|
NM_001277115.2(DNAH11):c.9925-7T>C
|
rs146815254
|
0.00021
|
|
NM_001278716.2(FBXL4):c.541A>G (p.Thr181Ala)
|
rs150748757
|
0.00021
|
|
NM_001291303.3(FAT4):c.829G>A (p.Ala277Thr)
|
rs183191959
|
0.00021
|
|
NM_001348800.3(ZBTB20):c.188G>A (p.Gly63Glu)
|
rs182068139
|
0.00021
|
|
NM_001369.3(DNAH5):c.3760C>T (p.Arg1254Trp)
|
rs749162833
|
0.00021
|
|
NM_001369.3(DNAH5):c.39C>T (p.Ser13=)
|
rs370788337
|
0.00021
|
|
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=)
|
rs140249737
|
0.00021
|
|
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=)
|
rs201478438
|
0.00021
|
|
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln)
|
rs112355069
|
0.00021
|
|
NM_001384732.1(CPLANE1):c.3131G>A (p.Arg1044His)
|
rs779754977
|
0.00021
|
|
NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys)
|
rs374983276
|
0.00021
|
|
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr)
|
rs138269346
|
0.00021
|
|
NM_001853.4(COL9A3):c.1708T>C (p.Ser570Pro)
|
rs199886210
|
0.00021
|
|
NM_001854.4(COL11A1):c.2421A>T (p.Arg807Ser)
|
rs367824632
|
0.00021
|
|
NM_001875.5(CPS1):c.234A>G (p.Gly78=)
|
rs182678639
|
0.00021
|
|
NM_001875.5(CPS1):c.5C>T (p.Thr2Met)
|
rs150314086
|
0.00021
|
|
NM_001953.5(TYMP):c.1176C>T (p.Val392=)
|
rs770533125
|
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_002185.5(IL7R):c.1165G>C (p.Asp389His)
|
rs143596606
|
0.00021
|
|
NM_002437.5(MPV17):c.31C>T (p.Leu11=)
|
rs540291444
|
0.00021
|
|
NM_002470.4(MYH3):c.4324G>A (p.Ala1442Thr)
|
rs201602783
|
0.00021
|
|
NM_002529.4(NTRK1):c.630C>T (p.Asp210=)
|
rs147882947
|
0.00021
|
|
NM_002617.4(PEX10):c.776+8C>T
|
rs370594705
|
0.00021
|
|
NM_002633.3(PGM1):c.420A>G (p.Pro140=)
|
rs141007881
|
0.00021
|
|
NM_002878.4(RAD51D):c.983C>T (p.Thr328Ile)
|
rs138969595
|
0.00021
|
|
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)
|
rs199783239
|
0.00021
|
|
NM_003235.5(TG):c.1020C>T (p.Asp340=)
|
rs138114586
|
0.00021
|
|
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)
|
rs565502802
|
0.00021
|
|
NM_003480.4(MFAP5):c.341G>A (p.Arg114Gln)
|
rs774489509
|
0.00021
|
|
NM_003722.5(TP63):c.504C>T (p.Asn168=)
|
rs141278696
|
0.00021
|
|
NM_003849.4(SUCLG1):c.87C>T (p.Arg29=)
|
rs371938859
|
0.00021
|
|
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)
|
rs191233787
|
0.00021
|
|
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)
|
rs150339369
|
0.00021
|
|
NM_004525.3(LRP2):c.230A>T (p.Glu77Val)
|
rs200113428
|
0.00021
|
|
NM_004525.3(LRP2):c.6130G>A (p.Ala2044Thr)
|
rs142266106
|
0.00021
|
|
NM_004553.6(NDUFS6):c.198C>T (p.Asn66=)
|
rs140887831
|
0.00021
|
|
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile)
|
rs144978163
|
0.00021
|
|
NM_005186.4(CAPN1):c.1341+7A>T
|
rs368589277
|
0.00021
|
|
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro)
|
rs141616288
|
0.00021
|
|
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp)
|
rs144844263
|
0.00021
|
|
NM_005535.3(IL12RB1):c.1048G>A (p.Gly350Arg)
|
rs200811721
|
0.00021
|
|
NM_005546.4(ITK):c.237G>A (p.Pro79=)
|
rs201403794
|
0.00021
|
|
NM_006017.3(PROM1):c.181A>G (p.Ile61Val)
|
rs201701647
|
0.00021
|
|
NM_006031.6(PCNT):c.5940C>T (p.Gly1980=)
|
rs150436577
|
0.00021
|
|
NM_006383.4(CIB2):c.366C>T (p.Phe122=)
|
rs374836619
|
0.00021
|
|
NM_006623.4(PHGDH):c.412-15C>T
|
rs368681081
|
0.00021
|
|
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=)
|
rs138766015
|
0.00021
|
|
NM_006922.4(SCN3A):c.5825A>G (p.Gln1942Arg)
|
rs149264761
|
0.00021
|
|
NM_007208.4(MRPL3):c.985C>T (p.Pro329Ser)
|
rs145183319
|
0.00021
|
|
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu)
|
rs80357147
|
0.00021
|
|
NM_012073.5(CCT5):c.1425C>T (p.Thr475=)
|
rs370529963
|
0.00021
|
|
NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys)
|
rs144138766
|
0.00021
|
|
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser)
|
rs138585919
|
0.00021
|
|
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe)
|
rs139110744
|
0.00021
|
|
NM_014714.4(IFT140):c.3271-4G>A
|
rs200815296
|
0.00021
|
|
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln)
|
rs145718272
|
0.00021
|
|
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp)
|
rs137906877
|
0.00021
|
|
NM_016239.4(MYO15A):c.5055C>T (p.Ala1685=)
|
rs201026034
|
0.00021
|
|
NM_016239.4(MYO15A):c.8768G>A (p.Arg2923Gln)
|
rs761180573
|
0.00021
|
|
NM_017636.4(TRPM4):c.748C>T (p.Arg250Cys)
|
rs144208673
|
0.00021
|
|
NM_017654.4(SAMD9):c.4417C>T (p.Arg1473Cys)
|
rs145665736
|
0.00021
|
|
NM_017662.5(TRPM6):c.499G>T (p.Ala167Ser)
|
rs141014694
|
0.00021
|
|
NM_017755.6(NSUN2):c.915C>T (p.Arg305=)
|
rs527650370
|
0.00021
|
|
NM_017882.3(CLN6):c.282C>A (p.Pro94=)
|
rs139261571
|
0.00021
|
|
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly)
|
rs190693455
|
0.00021
|
|
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser)
|
rs188955444
|
0.00021
|
|
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg)
|
rs138675304
|
0.00021
|
|
NM_018714.3(COG1):c.2365G>A (p.Glu789Lys)
|
rs201867802
|
0.00021
|
|
NM_018896.5(CACNA1G):c.6244G>A (p.Val2082Ile)
|
rs752773885
|
0.00021
|
|
NM_019844.4(SLCO1B3):c.484T>G (p.Cys162Gly)
|
rs140353351
|
0.00021
|
|
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu)
|
rs201806708
|
0.00021
|
|
NM_020223.4(FAM20C):c.1299G>A (p.Pro433=)
|
rs568534039
|
0.00021
|
|
NM_020376.4(PNPLA2):c.726C>T (p.Tyr242=)
|
rs144220751
|
0.00021
|
|
NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro)
|
rs59103647
|
0.00021
|
|
NM_021728.4(OTX2):c.273+11T>C
|
rs371958059
|
0.00021
|
|
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)
|
rs62626271
|
0.00021
|
|
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu)
|
rs199894395
|
0.00021
|
|
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val)
|
rs143156315
|
0.00021
|
|
NM_022436.3(ABCG5):c.1118+13C>G
|
rs371609600
|
0.00021
|
|
NM_023036.6(DNAI2):c.1723-1G>T
|
rs201909971
|
0.00021
|
|
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser)
|
rs201457010
|
0.00021
|
|
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=)
|
rs372450763
|
0.00021
|
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
|
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)
|
rs45594034
|
0.00021
|
|
NM_024876.4(COQ8B):c.1364A>G (p.Tyr455Cys)
|
rs144343899
|
0.00021
|
|
NM_025099.6(CTC1):c.1333C>T (p.Arg445Cys)
|
rs201273283
|
0.00021
|
|
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His)
|
rs202067248
|
0.00021
|
|
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys)
|
rs199499672
|
0.00021
|
|
NM_033305.3(VPS13A):c.6379-19T>G
|
rs766881111
|
0.00021
|
|
NM_052845.4(MMAB):c.333C>T (p.Ala111=)
|
rs769385276
|
0.00021
|
|
NM_052859.4(RFT1):c.831G>A (p.Val277=)
|
rs150391936
|
0.00021
|
|
NM_052867.4(NALCN):c.3058-11A>G
|
rs201506269
|
0.00021
|
|
NM_078470.6(COX15):c.664C>T (p.Arg222Cys)
|
rs2231682
|
0.00021
|
|
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp)
|
rs141254777
|
0.00021
|
|
NM_130837.3(OPA1):c.3027A>C (p.Glu1009Asp)
|
rs189036094
|
0.00021
|
|
NM_138691.3(TMC1):c.703G>T (p.Ala235Ser)
|
rs200831684
|
0.00021
|
|
NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln)
|
rs371665285
|
0.00021
|
|
NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile)
|
rs140639242
|
0.00021
|
|
NM_144670.6(A2ML1):c.221G>C (p.Arg74Thr)
|
rs77657214
|
0.00021
|
|
NM_145691.4(ATPAF2):c.634G>T (p.Ala212Ser)
|
rs141020107
|
0.00021
|
|
NM_153676.4(USH1C):c.513C>T (p.Pro171=)
|
rs199739341
|
0.00021
|
|
NM_173842.3(IL1RN):c.117-9C>T
|
rs373136455
|
0.00021
|
|
NM_182894.3(VSX2):c.244G>A (p.Gly82Arg)
|
rs375294678
|
0.00021
|
|
NM_194248.3(OTOF):c.2252C>T (p.Thr751Met)
|
rs727503359
|
0.00021
|
|
NM_194248.3(OTOF):c.327+10C>A
|
rs377042002
|
0.00021
|
|
NM_198578.4(LRRK2):c.5799A>T (p.Ile1933=)
|
rs139746572
|
0.00021
|
|
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=)
|
rs148553723
|
0.00021
|
|
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val)
|
rs150038447
|
0.00020
|
|
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys)
|
rs80358521
|
0.00020
|
|
NM_000064.4(C3):c.2050G>A (p.Gly684Ser)
|
rs201872466
|
0.00020
|
|
NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg)
|
rs151081792
|
0.00020
|
|
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu)
|
rs200511787
|
0.00020
|
|
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln)
|
rs373741172
|
0.00020
|
|
NM_000094.4(COL7A1):c.3107G>A (p.Arg1036Gln)
|
rs150873722
|
0.00020
|
|
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu)
|
rs145068043
|
0.00020
|
|
NM_000098.3(CPT2):c.1943T>C (p.Phe648Ser)
|
rs138125299
|
0.00020
|
|
NM_000124.4(ERCC6):c.1801G>A (p.Gly601Ser)
|
rs138758064
|
0.00020
|
|
NM_000128.4(F11):c.1028+9T>C
|
rs376630194
|
0.00020
|
|
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg)
|
rs139707740
|
0.00020
|
|
NM_000203.5(IDUA):c.1002G>A (p.Leu334=)
|
rs370582480
|
0.00020
|
|
NM_000217.3(KCNA1):c.60G>C (p.Gln20His)
|
rs201504073
|
0.00020
|
|
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)
|
rs104895151
|
0.00020
|
|
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn)
|
rs376736293
|
0.00020
|
|
NM_000286.3(PEX12):c.84T>C (p.Ser28=)
|
rs200641558
|
0.00020
|
|
NM_000312.4(PROC):c.-54G>A
|
rs2069936
|
0.00020
|
|
NM_000384.3(APOB):c.12959T>C (p.Met4320Thr)
|
rs377127458
|
0.00020
|
|
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr)
|
rs200261177
|
0.00020
|
|
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)
|
rs104894363
|
0.00020
|
|
NM_000455.5(STK11):c.1296G>A (p.Gln432=)
|
rs587781179
|
0.00020
|
|
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr)
|
rs77131926
|
0.00020
|
|
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr)
|
rs747538432
|
0.00020
|
|
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)
|
rs748568687
|
0.00020
|
|
NM_000553.6(WRN):c.1382C>T (p.Thr461Met)
|
rs371602600
|
0.00020
|
|
NM_000553.6(WRN):c.3139-9T>C
|
rs377226126
|
0.00020
|
|
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser)
|
rs143987049
|
0.00020
|
|
NM_000751.3(CHRND):c.45G>A (p.Ala15=)
|
rs138609765
|
0.00020
|
|
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=)
|
rs368971586
|
0.00020
|
|
NM_001039141.3(TRIOBP):c.3774C>T (p.Pro1258=)
|
rs377749969
|
0.00020
|
|
NM_001080.3(ALDH5A1):c.1344-6T>C
|
rs368212282
|
0.00020
|
|
NM_001080442.3(SLC38A8):c.389-9C>G
|
rs376444481
|
0.00020
|
|
NM_001097577.3(ANG):c.3G>A (p.Met1Ile)
|
rs201068740
|
0.00020
|
|
NM_001126108.2(SLC12A3):c.2310C>T (p.Gly770=)
|
rs375542454
|
0.00020
|
|
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val)
|
rs201515915
|
0.00020
|
|
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)
|
rs150942486
|
0.00020
|
|
NM_001164508.2(NEB):c.10608C>T (p.Gly3536=)
|
rs144673752
|
0.00020
|
|
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu)
|
rs368302286
|
0.00020
|
|
NM_001170629.2(CHD8):c.4921+5G>A
|
rs377595194
|
0.00020
|
|
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=)
|
rs539500659
|
0.00020
|
|
NM_001277115.2(DNAH11):c.13399G>A (p.Val4467Met)
|
rs200609513
|
0.00020
|
|
NM_001286577.2(C2CD3):c.2663G>A (p.Arg888Gln)
|
rs143196767
|
0.00020
|
|
NM_001291303.3(FAT4):c.11380C>T (p.Arg3794Trp)
|
rs201859188
|
0.00020
|
|
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser)
|
rs188528174
|
0.00020
|
|
NM_001734.5(C1S):c.1114G>T (p.Asp372Tyr)
|
rs201750214
|
0.00020
|
|
NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu)
|
rs377122126
|
0.00020
|
|
NM_001966.4(EHHADH):c.1938T>G (p.Ile646Met)
|
rs140527463
|
0.00020
|
|
NM_002055.5(GFAP):c.329C>G (p.Thr110Ser)
|
rs147282497
|
0.00020
|
|
NM_002292.4(LAMB2):c.253G>A (p.Glu85Lys)
|
rs140371771
|
0.00020
|
|
NM_004320.6(ATP2A1):c.1329A>G (p.Thr443=)
|
rs376915313
|
0.00020
|
|
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser)
|
rs140776586
|
0.00020
|
|
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=)
|
rs571177831
|
0.00020
|
|
NM_005249.5(FOXG1):c.456G>T (p.Gly152=)
|
rs587783637
|
0.00020
|
|
NM_005422.4(TECTA):c.2544G>A (p.Leu848=)
|
rs144582229
|
0.00020
|
|
NM_005732.4(RAD50):c.2525T>C (p.Val842Ala)
|
rs28903093
|
0.00020
|
|
NM_005921.2(MAP3K1):c.934A>T (p.Met312Leu)
|
rs376808920
|
0.00020
|
|
NM_005993.5(TBCD):c.541G>C (p.Ala181Pro)
|
rs201980005
|
0.00020
|
|
NM_006031.6(PCNT):c.5370C>T (p.Gly1790=)
|
rs192388432
|
0.00020
|
|
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro)
|
rs115558715
|
0.00020
|
|
NM_006946.4(SPTBN2):c.4374G>T (p.Glu1458Asp)
|
rs142378119
|
0.00020
|
|
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met)
|
rs137935543
|
0.00020
|
|
NM_013339.4(ALG6):c.882T>C (p.Arg294=)
|
rs145894044
|
0.00020
|
|
NM_013435.3(RAX):c.783G>C (p.Pro261=)
|
rs766154387
|
0.00020
|
|
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)
|
rs139579036
|
0.00020
|
|
NM_014714.4(IFT140):c.1230G>A (p.Ser410=)
|
rs199840711
|
0.00020
|
|
NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln)
|
rs200781310
|
0.00020
|
|
NM_017636.4(TRPM4):c.1874-9C>T
|
rs199805560
|
0.00020
|
|
NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp)
|
rs377219039
|
0.00020
|
|
NM_018685.5(ANLN):c.1545G>A (p.Thr515=)
|
rs139579665
|
0.00020
|
|
NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala)
|
rs72650764
|
0.00020
|
|
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg)
|
rs398124359
|
0.00020
|
|
NM_020461.4(TUBGCP6):c.5285C>T (p.Pro1762Leu)
|
rs201721812
|
0.00020
|
|
NM_020754.4(ARHGAP31):c.3463T>C (p.Trp1155Arg)
|
rs369750406
|
0.00020
|
|
NM_022124.6(CDH23):c.3707G>A (p.Arg1236Gln)
|
rs186990940
|
0.00020
|
|
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)
|
rs184323010
|
0.00020
|
|
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys)
|
rs138908576
|
0.00020
|
|
NM_053025.4(MYLK):c.455G>A (p.Arg152His)
|
rs201754358
|
0.00020
|
|
NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met)
|
rs147732725
|
0.00020
|
|
NM_144498.4(OSBPL2):c.598A>G (p.Ile200Val)
|
rs377525202
|
0.00020
|
|
NM_152263.4(TPM3):c.804C>T (p.Tyr268=)
|
rs762511246
|
0.00020
|
|
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val)
|
rs141638933
|
0.00020
|
|
NM_173689.7(CRB2):c.1494G>T (p.Trp498Cys)
|
rs144803819
|
0.00020
|
|
NM_174936.4(PCSK9):c.499C>T (p.Arg167Trp)
|
rs137878146
|
0.00020
|
|
NM_181458.4(PAX3):c.540C>G (p.Ser180Arg)
|
rs200679164
|
0.00020
|
|
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His)
|
rs538344879
|
0.00020
|
|
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=)
|
rs150727562
|
0.00020
|
|
NM_199069.2(NDUFAF3):c.193A>T (p.Ser65Cys)
|
rs200576852
|
0.00020
|
|
NM_201548.5(CERKL):c.900T>C (p.His300=)
|
rs183252158
|
0.00020
|
|
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala)
|
rs144817385
|
0.00020
|
|
NM_206933.4(USH2A):c.7038C>T (p.His2346=)
|
rs145718407
|
0.00020
|
|
NM_000023.4(SGCA):c.37+10G>T
|
rs200626376
|
0.00019
|
|
NM_000037.4(ANK1):c.3533-10G>A
|
rs374510116
|
0.00019
|
|
NM_000048.4(ASL):c.655+8G>A
|
rs200203985
|
0.00019
|
|
NM_000051.4(ATM):c.2495G>A (p.Arg832His)
|
rs199875915
|
0.00019
|
|
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)
|
rs35962982
|
0.00019
|
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
|
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=)
|
rs187343742
|
0.00019
|
|
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly)
|
rs376398239
|
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_000064.4(C3):c.1923C>T (p.Asp641=)
|
rs113044084
|
0.00019
|
|
NM_000069.3(CACNA1S):c.3256-12T>A
|
rs374335683
|
0.00019
|
|
NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly)
|
rs151218760
|
0.00019
|
|
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)
|
rs121912863
|
0.00019
|
|
NM_000128.4(F11):c.1767G>T (p.Leu589=)
|
rs142054643
|
0.00019
|
|
NM_000130.5(F5):c.5124C>T (p.Tyr1708=)
|
rs199568344
|
0.00019
|
|
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)
|
rs147672303
|
0.00019
|
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
|
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316
|
0.00019
|
|
NM_000152.5(GAA):c.250G>A (p.Val84Ile)
|
rs139595011
|
0.00019
|
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
|
NM_000153.4(GALC):c.1272G>A (p.Gln424=)
|
rs376675180
|
0.00019
|
|
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys)
|
rs146286491
|
0.00019
|
|
NM_000170.3(GLDC):c.1530G>A (p.Gly510=)
|
rs145665442
|
0.00019
|
|
NM_000170.3(GLDC):c.2570-10T>C
|
rs373987254
|
0.00019
|
|
NM_000199.5(SGSH):c.570C>T (p.Tyr190=)
|
rs149951602
|
0.00019
|
|
NM_000215.4(JAK3):c.2680+15G>A
|
rs201288968
|
0.00019
|
|
NM_000222.3(KIT):c.952A>G (p.Met318Val)
|
rs143388949
|
0.00019
|
|
NM_000243.3(MEFV):c.1038C>G (p.Gly346=)
|
rs141090517
|
0.00019
|
|
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val)
|
rs368716988
|
0.00019
|
|
NM_000260.4(MYO7A):c.3955G>A (p.Val1319Ile)
|
rs200483708
|
0.00019
|
|
NM_000260.4(MYO7A):c.970G>T (p.Ala324Ser)
|
rs376348438
|
0.00019
|
|
NM_000271.5(NPC1):c.1947+7_1947+11dup
|
rs1555634670
|
0.00019
|
|
NM_000271.5(NPC1):c.2257G>A (p.Val753Met)
|
rs146874573
|
0.00019
|
|
NM_000274.4(OAT):c.107G>C (p.Gly36Ala)
|
rs140786333
|
0.00019
|
|
NM_000275.3(OCA2):c.106C>T (p.Arg36Cys)
|
rs148066812
|
0.00019
|
|
NM_000277.3(PAH):c.399T>C (p.Asn133=)
|
rs145692106
|
0.00019
|
|
NM_000293.3(PHKB):c.1204+9G>T
|
rs200832185
|
0.00019
|
|
NM_000293.3(PHKB):c.2629G>A (p.Gly877Arg)
|
rs150902092
|
0.00019
|
|
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser)
|
rs763409574
|
0.00019
|
|
NM_000308.4(CTSA):c.1059G>A (p.Pro353=)
|
rs74694805
|
0.00019
|
|
NM_000335.5(SCN5A):c.3228+6C>G
|
rs368048551
|
0.00019
|
|
NM_000335.5(SCN5A):c.998+5G>A
|
rs187531872
|
0.00019
|
|
NM_000352.6(ABCC8):c.1644G>T (p.Thr548=)
|
rs565996783
|
0.00019
|
|
NM_000355.4(TCN2):c.1017C>G (p.Leu339=)
|
rs35997415
|
0.00019
|
|
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu)
|
rs782307200
|
0.00019
|
|
NM_000383.4(AIRE):c.538+7G>A
|
rs575144370
|
0.00019
|
|
NM_000384.3(APOB):c.13444A>G (p.Ile4482Val)
|
rs142702699
|
0.00019
|
|
NM_000392.5(ABCC2):c.1950G>A (p.Ser650=)
|
rs138673546
|
0.00019
|
|
NM_000392.5(ABCC2):c.2499T>C (p.Val833=)
|
rs75148532
|
0.00019
|
|
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu)
|
rs370422650
|
0.00019
|
|
NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=)
|
rs8187808
|
0.00019
|
|
NM_000458.4(HNF1B):c.1668C>A (p.Ala556=)
|
rs144354798
|
0.00019
|
|
NM_000484.4(APP):c.982C>T (p.Arg328Trp)
|
rs200978018
|
0.00019
|
|
NM_000520.6(HEXA):c.1216C>T (p.Leu406=)
|
rs140482769
|
0.00019
|
|
NM_000520.6(HEXA):c.1421+14G>C
|
rs201497629
|
0.00019
|
|
NM_000538.4(RFXAP):c.77C>G (p.Pro26Arg)
|
rs763162669
|
0.00019
|
|
NM_000540.3(RYR1):c.11034+15G>A
|
rs552725260
|
0.00019
|
|
NM_000540.3(RYR1):c.2160C>G (p.Leu720=)
|
rs200914778
|
0.00019
|
|
NM_000540.3(RYR1):c.2679C>G (p.Gly893=)
|
rs765657226
|
0.00019
|
|
NM_000540.3(RYR1):c.2933C>T (p.Pro978Leu)
|
rs200124278
|
0.00019
|
|
NM_000540.3(RYR1):c.7141G>A (p.Glu2381Lys)
|
rs148426762
|
0.00019
|
|
NM_000540.3(RYR1):c.8733C>A (p.Leu2911=)
|
rs200427576
|
0.00019
|
|
NM_000540.3(RYR1):c.89A>T (p.Glu30Val)
|
rs145771708
|
0.00019
|
|
NM_000540.3(RYR1):c.9886C>G (p.Leu3296Val)
|
rs368433841
|
0.00019
|
|
NM_000540.3(RYR1):c.9896G>T (p.Gly3299Val)
|
rs376790408
|
0.00019
|
|
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala)
|
rs35993958
|
0.00019
|
|
NM_000628.5(IL10RB):c.215C>T (p.Thr72Met)
|
rs148466782
|
0.00019
|
|
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=)
|
rs371343548
|
0.00019
|
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
|
NM_001005373.4(LRSAM1):c.1515G>A (p.Ser505=)
|
rs140066362
|
0.00019
|
|
NM_001035.3(RYR2):c.1006-12C>T
|
rs367998175
|
0.00019
|
|
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)
|
rs201312753
|
0.00019
|
|
NM_001040716.2(PC):c.1266C>T (p.Tyr422=)
|
rs141324828
|
0.00019
|
|
NM_001040716.2(PC):c.89G>A (p.Arg30Gln)
|
rs199616332
|
0.00019
|
|
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)
|
rs144091165
|
0.00019
|
|
NM_001042545.2(LTBP4):c.2239G>A (p.Gly747Ser)
|
rs371314855
|
0.00019
|
|
NM_001080.3(ALDH5A1):c.831G>A (p.Val277=)
|
rs138912422
|
0.00019
|
|
NM_001083614.2(EARS2):c.280A>G (p.Met94Val)
|
rs200139797
|
0.00019
|
|
NM_001128840.3(CACNA1D):c.3821C>T (p.Ser1274Phe)
|
rs200382504
|
0.00019
|
|
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro)
|
rs398123574
|
0.00019
|
|
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=)
|
rs74699271
|
0.00019
|
|
NM_001164508.2(NEB):c.18410C>T (p.Thr6137Met)
|
rs201462794
|
0.00019
|
|
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=)
|
rs148794372
|
0.00019
|
|
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)
|
rs553367989
|
0.00019
|
|
NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala)
|
rs150305320
|
0.00019
|
|
NM_001194998.2(CEP152):c.4T>A (p.Ser2Thr)
|
rs374200686
|
0.00019
|
|
NM_001206744.2(TPO):c.9G>A (p.Ala3=)
|
rs61758084
|
0.00019
|
|
NM_001206999.2(CIT):c.232C>T (p.Arg78Trp)
|
rs186505065
|
0.00019
|
|
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser)
|
rs142957871
|
0.00019
|
|
NM_001247997.2(CLIP1):c.2338C>T (p.Arg780Trp)
|
rs3741447
|
0.00019
|
|
NM_001277115.2(DNAH11):c.9966A>G (p.Gln3322=)
|
rs201050208
|
0.00019
|
|
NM_001287.6(CLCN7):c.558C>T (p.Phe186=)
|
rs147280414
|
0.00019
|
|
NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro)
|
rs876657936
|
0.00019
|
|
NM_001346754.2(PIGW):c.533C>G (p.Ser178Cys)
|
rs368008171
|
0.00019
|
|
NM_001352754.2(ARMC9):c.1964C>T (p.Thr655Ile)
|
rs202164814
|
0.00019
|
|
NM_001360.3(DHCR7):c.729C>T (p.Pro243=)
|
rs145284180
|
0.00019
|
|
NM_001360.3(DHCR7):c.99-5C>T
|
rs372886043
|
0.00019
|
|
NM_001365088.1(SLC12A6):c.1417A>G (p.Asn473Asp)
|
rs370477960
|
0.00019
|
|
NM_001365999.1(SZT2):c.4647C>T (p.Gly1549=)
|
rs149192929
|
0.00019
|
|
NM_001367624.2(ZNF469):c.5675G>A (p.Arg1892Lys)
|
rs528085780
|
0.00019
|
|
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg)
|
rs766410344
|
0.00019
|
|
NM_001367624.2(ZNF469):c.9214G>A (p.Gly3072Ser)
|
rs557364171
|
0.00019
|
|
NM_001369.3(DNAH5):c.6230T>C (p.Phe2077Ser)
|
rs141196027
|
0.00019
|
|
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln)
|
rs137949961
|
0.00019
|
|
NM_001374828.1(ARID1B):c.1229G>C (p.Gly410Ala)
|
rs1455234951
|
0.00019
|
|
NM_001377.3(DYNC2H1):c.366+10G>A
|
rs200257097
|
0.00019
|
|
NM_001378183.1(PIEZO2):c.1240-5G>A
|
rs373971761
|
0.00019
|
|
NM_001378183.1(PIEZO2):c.5897G>A (p.Arg1966His)
|
rs373973800
|
0.00019
|
|
NM_001378183.1(PIEZO2):c.947C>A (p.Thr316Lys)
|
rs374993280
|
0.00019
|
|
NM_001378609.3(OTOGL):c.1823G>A (p.Ser608Asn)
|
rs202156673
|
0.00019
|
|
NM_001378609.3(OTOGL):c.3786C>G (p.Phe1262Leu)
|
rs199807709
|
0.00019
|
|
NM_001384140.1(PCDH15):c.4672-1564T>C
|
rs193186244
|
0.00019
|
|
NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val)
|
rs139496915
|
0.00019
|
|
NM_001384732.1(CPLANE1):c.7883A>T (p.Glu2628Val)
|
rs200930248
|
0.00019
|
|
NM_001457.4(FLNB):c.2644G>C (p.Val882Leu)
|
rs139124254
|
0.00019
|
|
NM_001458.5(FLNC):c.2296C>T (p.Arg766Trp)
|
rs200215340
|
0.00019
|
|
NM_001458.5(FLNC):c.3938G>A (p.Arg1313Gln)
|
rs199804244
|
0.00019
|
|
NM_001793.6(CDH3):c.918C>T (p.Asp306=)
|
rs201521473
|
0.00019
|
|
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met)
|
rs147559634
|
0.00019
|
|
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)
|
rs142770543
|
0.00019
|
|
NM_001853.4(COL9A3):c.481C>T (p.His161Tyr)
|
rs150207068
|
0.00019
|
|
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)
|
rs143206624
|
0.00019
|
|
NM_002206.3(ITGA7):c.1317C>T (p.Phe439=)
|
rs200714716
|
0.00019
|
|
NM_002234.4(KCNA5):c.898G>A (p.Gly300Ser)
|
rs148708451
|
0.00019
|
|
NM_002408.4(MGAT2):c.63C>T (p.Gly21=)
|
rs146729850
|
0.00019
|
|
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn)
|
rs201327273
|
0.00019
|
|
NM_002485.5(NBN):c.37+6G>A
|
rs540868733
|
0.00019
|
|
NM_002691.4(POLD1):c.2007-5C>T
|
rs199506387
|
0.00019
|
|
NM_002778.4(PSAP):c.1476T>C (p.Thr492=)
|
rs139178900
|
0.00019
|
|
NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn)
|
rs149642039
|
0.00019
|
|
NM_002972.4(SBF1):c.1637-5C>T
|
rs377462059
|
0.00019
|
|
NM_003465.3(CHIT1):c.508G>T (p.Ala170Ser)
|
rs151004649
|
0.00019
|
|
NM_003480.4(MFAP5):c.442C>T (p.Pro148Ser)
|
rs148770543
|
0.00019
|
|
NM_003560.4(PLA2G6):c.441G>A (p.Ala147=)
|
rs371920697
|
0.00019
|
|
NM_003737.4(DCHS1):c.7846C>G (p.Pro2616Ala)
|
rs150354113
|
0.00019
|
|
NM_003737.4(DCHS1):c.8302C>T (p.Arg2768Cys)
|
rs368211314
|
0.00019
|
|
NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=)
|
rs201605414
|
0.00019
|
|
NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys)
|
rs200833797
|
0.00019
|
|
NM_004086.3(COCH):c.198A>T (p.Val66=)
|
rs28400029
|
0.00019
|
|
NM_004174.4(SLC9A3):c.755-11C>T
|
rs139270058
|
0.00019
|
|
NM_004369.4(COL6A3):c.3556G>A (p.Val1186Met)
|
rs144976132
|
0.00019
|
|
NM_004371.4(COPA):c.2234G>A (p.Arg745His)
|
rs138441444
|
0.00019
|
|
NM_004415.4(DSP):c.1344G>A (p.Leu448=)
|
rs138226280
|
0.00019
|
|
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp)
|
rs375172942
|
0.00019
|
|
NM_004482.4(GALNT3):c.51T>C (p.His17=)
|
rs149612790
|
0.00019
|
|
NM_004525.3(LRP2):c.12958A>G (p.Ile4320Val)
|
rs141452561
|
0.00019
|
|
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)
|
rs117134265
|
0.00019
|
|
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala)
|
rs34574788
|
0.00019
|
|
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)
|
rs111513627
|
0.00019
|
|
NM_004621.6(TRPC6):c.75C>T (p.Arg25=)
|
rs201051533
|
0.00019
|
|
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp)
|
rs386833960
|
0.00019
|
|
NM_004698.4(PRPF3):c.501A>G (p.Thr167=)
|
rs146995242
|
0.00019
|
|
NM_004793.4(LONP1):c.1925C>T (p.Thr642Met)
|
rs371606894
|
0.00019
|
|
NM_004817.4(TJP2):c.2384C>T (p.Pro795Leu)
|
rs139867659
|
0.00019
|
|
NM_004817.4(TJP2):c.3150G>A (p.Leu1050=)
|
rs141675065
|
0.00019
|
|
NM_004937.3(CTNS):c.123C>T (p.Asn41=)
|
rs148084080
|
0.00019
|
|
NM_004977.3(KCNC3):c.1429G>A (p.Asp477Asn)
|
rs148033381
|
0.00019
|
|
NM_005006.7(NDUFS1):c.738-20A>G
|
rs200128097
|
0.00019
|
|
NM_005199.5(CHRNG):c.439C>T (p.Arg147Cys)
|
rs754928609
|
0.00019
|
|
NM_005529.7(HSPG2):c.11482G>A (p.Glu3828Lys)
|
rs200997062
|
0.00019
|
|
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg)
|
rs199942544
|
0.00019
|
|
NM_005548.3(KARS1):c.482+8G>A
|
rs377697859
|
0.00019
|
|
NM_006005.3(WFS1):c.1695C>T (p.Leu565=)
|
rs755736687
|
0.00019
|
|
NM_006019.4(TCIRG1):c.1615G>A (p.Val539Ile)
|
rs142539969
|
0.00019
|
|
NM_006261.5(PROP1):c.96G>A (p.Pro32=)
|
rs144314831
|
0.00019
|
|
NM_012156.2(EPB41L1):c.1893C>T (p.Ser631=)
|
rs142447348
|
0.00019
|
|
NM_012213.3(MLYCD):c.641+11C>T
|
rs200841672
|
0.00019
|
|
NM_012472.6(DNAAF11):c.178+13A>G
|
rs200580615
|
0.00019
|
|
NM_014000.3(VCL):c.2427C>T (p.Ser809=)
|
rs183739128
|
0.00019
|
|
NM_014141.6(CNTNAP2):c.561T>C (p.Val187=)
|
rs201200400
|
0.00019
|
|
NM_014141.6(CNTNAP2):c.837G>A (p.Val279=)
|
rs143507886
|
0.00019
|
|
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=)
|
rs199664723
|
0.00019
|
|
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr)
|
rs138958351
|
0.00019
|
|
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)
|
rs201558584
|
0.00019
|
|
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)
|
rs61754478
|
0.00019
|
|
NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val)
|
rs150266349
|
0.00019
|
|
NM_014639.4(SKIC3):c.1446T>C (p.Phe482=)
|
rs142880784
|
0.00019
|
|
NM_014714.4(IFT140):c.2787G>A (p.Thr929=)
|
rs374661866
|
0.00019
|
|
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn)
|
rs201065562
|
0.00019
|
|
NM_015087.5(SPART):c.1414G>T (p.Ala472Ser)
|
rs142482393
|
0.00019
|
|
NM_015148.4(PASK):c.2165T>C (p.Leu722Pro)
|
rs201982321
|
0.00019
|
|
NM_015158.5(KANK1):c.3772G>T (p.Ala1258Ser)
|
rs113362230
|
0.00019
|
|
NM_015559.3(SETBP1):c.4307C>T (p.Ala1436Val)
|
rs373986368
|
0.00019
|
|
NM_017534.6(MYH2):c.4304T>C (p.Met1435Thr)
|
rs139691540
|
0.00019
|
|
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His)
|
rs754086897
|
0.00019
|
|
NM_018943.3(TUBA8):c.958C>T (p.Arg320Trp)
|
rs140202346
|
0.00019
|
|
NM_019066.5(MAGEL2):c.434C>T (p.Pro145Leu)
|
rs372352945
|
0.00019
|
|
NM_019098.5(CNGB3):c.2410A>T (p.Lys804Ter)
|
rs151039691
|
0.00019
|
|
NM_020461.4(TUBGCP6):c.655G>T (p.Val219Leu)
|
rs137934849
|
0.00019
|
|
NM_020533.3(MCOLN1):c.60C>T (p.Pro20=)
|
rs202247664
|
0.00019
|
|
NM_020921.4(NIN):c.1991C>T (p.Thr664Ile)
|
rs147946706
|
0.00019
|
|
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=)
|
rs376297358
|
0.00019
|
|
NM_020987.5(ANK3):c.4085G>C (p.Gly1362Ala)
|
rs200556767
|
0.00019
|
|
NM_022041.4(GAN):c.283-14T>C
|
rs369700456
|
0.00019
|
|
NM_022098.4(XPNPEP3):c.597G>A (p.Thr199=)
|
rs151167805
|
0.00019
|
|
NM_022124.6(CDH23):c.3486G>C (p.Gly1162=)
|
rs397517324
|
0.00019
|
|
NM_022464.5(SIL1):c.192C>T (p.Ala64=)
|
rs148651377
|
0.00019
|
|
NM_024105.4(ALG12):c.1152C>G (p.Pro384=)
|
rs375721419
|
0.00019
|
|
NM_025099.6(CTC1):c.2895C>T (p.Ala965=)
|
rs373530008
|
0.00019
|
|
NM_025099.6(CTC1):c.597G>A (p.Thr199=)
|
rs373023392
|
0.00019
|
|
NM_025137.4(SPG11):c.5796T>C (p.His1932=)
|
rs375350193
|
0.00019
|
|
NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys)
|
rs201084185
|
0.00019
|
|
NM_032043.3(BRIP1):c.380-5A>G
|
rs587782131
|
0.00019
|
|
NM_032119.4(ADGRV1):c.10550-7C>T
|
rs191228562
|
0.00019
|
|
NM_032119.4(ADGRV1):c.10697T>C (p.Ile3566Thr)
|
rs201483312
|
0.00019
|
|
NM_032119.4(ADGRV1):c.2734+8A>G
|
rs371906040
|
0.00019
|
|
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys)
|
rs146526977
|
0.00019
|
|
NM_052945.4(TNFRSF13C):c.213G>A (p.Ala71=)
|
rs767759337
|
0.00019
|
|
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln)
|
rs138265409
|
0.00019
|
|
NM_080425.4(GNAS):c.678T>G (p.Phe226Leu)
|
rs201332059
|
0.00019
|
|
NM_080680.3(COL11A2):c.233-8G>T
|
rs375268140
|
0.00019
|
|
NM_130837.3(OPA1):c.2441-4dup
|
rs761286590
|
0.00019
|
|
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met)
|
rs115282699
|
0.00019
|
|
NM_144498.4(OSBPL2):c.833A>G (p.Lys278Arg)
|
rs199648498
|
0.00019
|
|
NM_144670.6(A2ML1):c.887T>C (p.Val296Ala)
|
rs192888493
|
0.00019
|
|
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys)
|
rs199881207
|
0.00019
|
|
NM_152263.4(TPM3):c.249G>A (p.Glu83=)
|
rs149765446
|
0.00019
|
|
NM_152464.3(TMEM199):c.36G>A (p.Val12=)
|
rs781939580
|
0.00019
|
|
NM_152564.5(VPS13B):c.4225-6G>A
|
rs199755508
|
0.00019
|
|
NM_172201.2(KCNE2):c.153G>T (p.Leu51=)
|
rs143767851
|
0.00019
|
|
NM_175875.5(SIX5):c.1366C>T (p.Leu456Phe)
|
rs569540038
|
0.00019
|
|
NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe)
|
rs201466326
|
0.00019
|
|
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu)
|
rs191568463
|
0.00019
|
|
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile)
|
rs199613764
|
0.00019
|
|
NM_198129.4(LAMA3):c.5780C>T (p.Thr1927Ile)
|
rs146039146
|
0.00019
|
|
NM_199242.3(UNC13D):c.114G>A (p.Pro38=)
|
rs755103812
|
0.00019
|
|
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His)
|
rs189729452
|
0.00019
|
|
NM_206933.4(USH2A):c.5266G>A (p.Val1756Ile)
|
rs143208990
|
0.00019
|
|
NM_206933.4(USH2A):c.5608C>T (p.Arg1870Trp)
|
rs144768593
|
0.00019
|
|
NM_206933.4(USH2A):c.5619C>T (p.Val1873=)
|
rs138416665
|
0.00019
|
|
NM_206937.2(LIG4):c.712A>G (p.Ile238Val)
|
rs149012859
|
0.00019
|
|
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)
|
rs202228932
|
0.00018
|
|
NM_000038.6(APC):c.6637A>G (p.Met2213Val)
|
rs186926737
|
0.00018
|
|
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)
|
rs555219189
|
0.00018
|
|
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)
|
rs757549770
|
0.00018
|
|
NM_000057.4(BLM):c.807C>T (p.Ser269=)
|
rs147850738
|
0.00018
|
|
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly)
|
rs55689095
|
0.00018
|
|
NM_000094.4(COL7A1):c.1495G>A (p.Val499Met)
|
rs201877942
|
0.00018
|
|
NM_000094.4(COL7A1):c.2146A>G (p.Arg716Gly)
|
rs143040168
|
0.00018
|
|
NM_000130.5(F5):c.1297-13T>C
|
rs372389170
|
0.00018
|
|
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)
|
rs776625874
|
0.00018
|
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
|
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)
|
rs372799904
|
0.00018
|
|
NM_000158.4(GBE1):c.313+15G>A
|
rs184391304
|
0.00018
|
|
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala)
|
rs141647790
|
0.00018
|
|
NM_000322.5(PRPH2):c.1015G>A (p.Ala339Thr)
|
rs760687443
|
0.00018
|
|
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)
|
rs61754402
|
0.00018
|
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
|
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro)
|
rs202183386
|
0.00018
|
|
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu)
|
rs114982090
|
0.00018
|
|
NM_000515.5(GH1):c.546A>G (p.Leu182=)
|
rs4080078
|
0.00018
|
|
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=)
|
rs140636367
|
0.00018
|
|
NM_000540.3(RYR1):c.4294-4C>T
|
rs368108496
|
0.00018
|
|
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=)
|
rs370350821
|
0.00018
|
|
NM_000546.6(TP53):c.935C>G (p.Thr312Ser)
|
rs145151284
|
0.00018
|
|
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)
|
rs564806219
|
0.00018
|
|
NM_001048174.2(MUTYH):c.1102+9A>T
|
rs587780742
|
0.00018
|
|
NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=)
|
rs148334665
|
0.00018
|
|
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met)
|
rs727505067
|
0.00018
|
|
NM_001164508.2(NEB):c.4046T>C (p.Leu1349Pro)
|
rs183667452
|
0.00018
|
|
NM_001177316.2(SLC34A3):c.1143G>A (p.Ala381=)
|
rs369565150
|
0.00018
|
|
NM_001182.5(ALDH7A1):c.528T>C (p.His176=)
|
rs757135576
|
0.00018
|
|
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=)
|
rs147915828
|
0.00018
|
|
NM_001256789.3(CACNA1F):c.761T>C (p.Ile254Thr)
|
rs202029187
|
0.00018
|
|
NM_001277115.2(DNAH11):c.2824C>A (p.Pro942Thr)
|
rs189569144
|
0.00018
|
|
NM_001277115.2(DNAH11):c.8145C>T (p.Asn2715=)
|
rs201592689
|
0.00018
|
|
NM_001292063.2(OTOG):c.93C>T (p.Leu31=)
|
rs776961395
|
0.00018
|
|
NM_001349206.2(LPIN1):c.854C>A (p.Thr285Lys)
|
rs141555457
|
0.00018
|
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
|
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His)
|
rs143251480
|
0.00018
|
|
NM_001369.3(DNAH5):c.13837G>A (p.Val4613Met)
|
rs147583407
|
0.00018
|
|
NM_001374385.1(ATP8B1):c.1030-9G>A
|
rs201532178
|
0.00018
|
|
NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser)
|
rs776745618
|
0.00018
|
|
NM_001375808.2(LPIN2):c.2327+10C>T
|
rs367921036
|
0.00018
|
|
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)
|
rs375855445
|
0.00018
|
|
NM_001457.4(FLNB):c.2059G>A (p.Gly687Arg)
|
rs148679414
|
0.00018
|
|
NM_001457.4(FLNB):c.4414G>A (p.Val1472Met)
|
rs141098733
|
0.00018
|
|
NM_001458.5(FLNC):c.7108G>A (p.Gly2370Ser)
|
rs201917318
|
0.00018
|
|
NM_001498.4(GCLC):c.264-11C>A
|
rs199775302
|
0.00018
|
|
NM_001620.3(AHNAK):c.10589A>G (p.Lys3530Arg)
|
rs143895650
|
0.00018
|
|
NM_001854.4(COL11A1):c.1296A>G (p.Ala432=)
|
rs768321160
|
0.00018
|
|
NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser)
|
rs145159429
|
0.00018
|
|
NM_001854.4(COL11A1):c.5132C>T (p.Thr1711Ile)
|
rs139920081
|
0.00018
|
|
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr)
|
rs200569046
|
0.00018
|
|
NM_002230.4(JUP):c.1582G>A (p.Val528Ile)
|
rs368271628
|
0.00018
|
|
NM_002234.4(KCNA5):c.251A>C (p.Glu84Ala)
|
rs377036305
|
0.00018
|
|
NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=)
|
rs151292828
|
0.00018
|
|
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr)
|
rs201253200
|
0.00018
|
|
NM_002335.4(LRP5):c.4049T>G (p.Leu1350Arg)
|
rs531205284
|
0.00018
|
|
NM_002506.3(NGF):c.165G>A (p.Pro55=)
|
rs149876217
|
0.00018
|
|
NM_002529.4(NTRK1):c.504C>T (p.Gly168=)
|
rs144594313
|
0.00018
|
|
NM_002691.4(POLD1):c.2017G>A (p.Glu673Lys)
|
rs61751955
|
0.00018
|
|
NM_002878.4(RAD51D):c.904-3C>T
|
rs45478491
|
0.00018
|
|
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=)
|
rs142264458
|
0.00018
|
|
NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe)
|
rs147135956
|
0.00018
|
|
NM_003235.5(TG):c.4638C>T (p.Gly1546=)
|
rs116663504
|
0.00018
|
|
NM_003560.4(PLA2G6):c.396C>T (p.Arg132=)
|
rs146252218
|
0.00018
|
|
NM_003839.4(TNFRSF11A):c.321G>A (p.Thr107=)
|
rs772863037
|
0.00018
|
|
NM_004086.3(COCH):c.87C>T (p.Pro29=)
|
rs774290415
|
0.00018
|
|
NM_004360.5(CDH1):c.2412C>T (p.Pro804=)
|
rs202075199
|
0.00018
|
|
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln)
|
rs200091648
|
0.00018
|
|
NM_004525.3(LRP2):c.10661G>A (p.Arg3554Gln)
|
rs139257219
|
0.00018
|
|
NM_004568.6(SERPINB6):c.313-5C>G
|
rs370994947
|
0.00018
|
|
NM_004937.3(CTNS):c.697G>A (p.Val233Met)
|
rs201058200
|
0.00018
|
|
NM_005045.4(RELN):c.2125A>G (p.Met709Val)
|
rs114577182
|
0.00018
|
|
NM_005529.7(HSPG2):c.6820G>A (p.Ala2274Thr)
|
rs190391786
|
0.00018
|
|
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr)
|
rs149862950
|
0.00018
|
|
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=)
|
rs200610141
|
0.00018
|
|
NM_006059.4(LAMC3):c.2390C>T (p.Pro797Leu)
|
rs150965854
|
0.00018
|
|
NM_006231.4(POLE):c.1597G>A (p.Val533Met)
|
rs374140892
|
0.00018
|
|
NM_006231.4(POLE):c.5636G>A (p.Arg1879His)
|
rs145621558
|
0.00018
|
|
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu)
|
rs373768478
|
0.00018
|
|
NM_006261.5(PROP1):c.385C>T (p.Arg129Cys)
|
rs140207251
|
0.00018
|
|
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser)
|
rs142863840
|
0.00018
|
|
NM_007259.5(VPS45):c.625G>T (p.Val209Phe)
|
rs201955039
|
0.00018
|
|
NM_012213.3(MLYCD):c.135C>T (p.Arg45=)
|
rs767969074
|
0.00018
|
|
NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr)
|
rs121908445
|
0.00018
|
|
NM_014141.6(CNTNAP2):c.3968A>C (p.Asp1323Ala)
|
rs142434274
|
0.00018
|
|
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=)
|
rs201215425
|
0.00018
|
|
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala)
|
rs146627706
|
0.00018
|
|
NM_016360.4(TACO1):c.451G>A (p.Glu151Lys)
|
rs139687237
|
0.00018
|
|
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn)
|
rs200816814
|
0.00018
|
|
NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln)
|
rs202193200
|
0.00018
|
|
NM_020117.11(LARS1):c.1501G>A (p.Ala501Thr)
|
rs139960441
|
0.00018
|
|
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys)
|
rs376935647
|
0.00018
|
|
NM_021252.5(RAB18):c.148A>G (p.Ile50Val)
|
rs148786103
|
0.00018
|
|
NM_021615.5(CHST6):c.656C>T (p.Ala219Val)
|
rs201743866
|
0.00018
|
|
NM_022124.6(CDH23):c.3431-6A>T
|
rs377614198
|
0.00018
|
|
NM_022124.6(CDH23):c.5769G>A (p.Lys1923=)
|
rs554353516
|
0.00018
|
|
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys)
|
rs200115665
|
0.00018
|
|
NM_130837.3(OPA1):c.1700T>C (p.Ile567Thr)
|
rs148834015
|
0.00018
|
|
NM_139343.3(BIN1):c.1143G>A (p.Pro381=)
|
rs372360787
|
0.00018
|
|
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=)
|
rs745668942
|
0.00018
|
|
NM_194248.3(OTOF):c.4454C>T (p.Pro1485Leu)
|
rs200699092
|
0.00018
|
|
NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=)
|
rs114425388
|
0.00018
|
|
NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=)
|
rs749951528
|
0.00018
|
|
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu)
|
rs138344683
|
0.00018
|
|
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile)
|
rs147532612
|
0.00018
|
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
|
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe)
|
rs150882838
|
0.00017
|
|
NM_000049.4(ASPA):c.230A>G (p.Asn77Ser)
|
rs574328488
|
0.00017
|
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
|
NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro)
|
rs576536458
|
0.00017
|
|
NM_000124.4(ERCC6):c.4400G>A (p.Arg1467Gln)
|
rs145554525
|
0.00017
|
|
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg)
|
rs146975341
|
0.00017
|
|
NM_000135.4(FANCA):c.874C>G (p.His292Asp)
|
rs200220791
|
0.00017
|
|
NM_000152.5(GAA):c.131G>T (p.Gly44Val)
|
rs550609502
|
0.00017
|
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
|
NM_000153.4(GALC):c.708C>T (p.Ser236=)
|
rs773666802
|
0.00017
|
|
NM_000170.3(GLDC):c.2307C>T (p.Pro769=)
|
rs565834029
|
0.00017
|
|
NM_000243.3(MEFV):c.1245C>T (p.Val415=)
|
rs104895195
|
0.00017
|
|
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)
|
rs202139499
|
0.00017
|
|
NM_000282.4(PCCA):c.328G>C (p.Val110Leu)
|
rs150788587
|
0.00017
|
|
NM_000302.4(PLOD1):c.579+10A>G
|
rs538255620
|
0.00017
|
|
NM_000335.5(SCN5A):c.80G>A (p.Arg27His)
|
rs199473045
|
0.00017
|
|
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser)
|
rs145054469
|
0.00017
|
|
NM_000350.3(ABCA4):c.3607+13C>T
|
rs374630957
|
0.00017
|
|
NM_000384.3(APOB):c.13181T>C (p.Val4394Ala)
|
rs12720843
|
0.00017
|
|
NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile)
|
rs371403343
|
0.00017
|
|
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu)
|
rs150946659
|
0.00017
|
|
NM_000478.6(ALPL):c.413G>A (p.Arg138Gln)
|
rs140167865
|
0.00017
|
|
NM_000481.4(AMT):c.363C>T (p.Asn121=)
|
rs367604855
|
0.00017
|
|
NM_000528.4(MAN2B1):c.2268-11C>T
|
rs537217370
|
0.00017
|
|
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)
|
rs373857078
|
0.00017
|
|
NM_000642.3(AGL):c.3884G>A (p.Arg1295His)
|
rs140481863
|
0.00017
|
|
NM_000787.4(DBH):c.1840G>A (p.Gly614Arg)
|
rs76316834
|
0.00017
|
|
NM_000787.4(DBH):c.354C>T (p.Asp118=)
|
rs199898782
|
0.00017
|
|
NM_001008216.2(GALE):c.447C>G (p.Pro149=)
|
rs571625657
|
0.00017
|
|
NM_001032386.2(SUOX):c.574C>T (p.Arg192Trp)
|
rs139444405
|
0.00017
|
|
NM_001039876.3(SYNE4):c.213C>T (p.Ala71=)
|
rs182159084
|
0.00017
|
|
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=)
|
rs372100073
|
0.00017
|
|
NM_001106.4(ACVR2B):c.1269G>A (p.Ser423=)
|
rs146067304
|
0.00017
|
|
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=)
|
rs202240122
|
0.00017
|
|
NM_001142784.3(IL11RA):c.344G>A (p.Arg115His)
|
rs201997285
|
0.00017
|
|
NM_001244926.2(PRPF4):c.739A>G (p.Thr247Ala)
|
rs563764064
|
0.00017
|
|
NM_001277115.2(DNAH11):c.13162+12C>T
|
rs191638909
|
0.00017
|
|
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met)
|
rs149309725
|
0.00017
|
|
NM_001291303.3(FAT4):c.6977C>T (p.Thr2326Ile)
|
rs200344386
|
0.00017
|
|
NM_001297.5(CNGB1):c.1478C>T (p.Pro493Leu)
|
rs148555948
|
0.00017
|
|
NM_001377299.1(NDUFS2):c.600C>T (p.Phe200=)
|
rs138185030
|
0.00017
|
|
NM_001384732.1(CPLANE1):c.4306C>T (p.Pro1436Ser)
|
rs183021118
|
0.00017
|
|
NM_001384732.1(CPLANE1):c.7559A>G (p.His2520Arg)
|
rs369951498
|
0.00017
|
|
NM_001395413.1(POR):c.180-10T>C
|
rs374111607
|
0.00017
|
|
NM_001609.4(ACADSB):c.795C>T (p.Phe265=)
|
rs150619709
|
0.00017
|
|
NM_001844.5(COL2A1):c.2620C>T (p.Pro874Ser)
|
rs377198201
|
0.00017
|
|
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)
|
rs199557190
|
0.00017
|
|
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=)
|
rs150601728
|
0.00017
|
|
NM_001943.5(DSG2):c.1851C>T (p.Leu617=)
|
rs202057770
|
0.00017
|
|
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile)
|
rs150672907
|
0.00017
|
|
NM_002025.4(AFF2):c.2424C>T (p.Asp808=)
|
rs139807832
|
0.00017
|
|
NM_002185.5(IL7R):c.602A>G (p.Tyr201Cys)
|
rs145810271
|
0.00017
|
|
NM_002474.3(MYH11):c.1212G>C (p.Gly404=)
|
rs201198815
|
0.00017
|
|
NM_002529.4(NTRK1):c.631G>A (p.Val211Met)
|
rs201192875
|
0.00017
|
|
NM_002618.4(PEX13):c.856G>A (p.Val286Ile)
|
rs201699810
|
0.00017
|
|
NM_003060.4(SLC22A5):c.852C>T (p.Leu284=)
|
rs146185976
|
0.00017
|
|
NM_003465.3(CHIT1):c.480+12C>T
|
rs201180236
|
0.00017
|
|
NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile)
|
rs199514789
|
0.00017
|
|
NM_003850.3(SUCLA2):c.272-13G>C
|
rs367890526
|
0.00017
|
|
NM_004076.5(CRYBB3):c.584G>A (p.Arg195His)
|
rs147937174
|
0.00017
|
|
NM_004100.5(EYA4):c.1617-11C>T
|
rs118166702
|
0.00017
|
|
NM_004278.4(PIGL):c.446G>C (p.Gly149Ala)
|
rs140211194
|
0.00017
|
|
NM_004320.6(ATP2A1):c.2310C>T (p.Gly770=)
|
rs7192781
|
0.00017
|
|
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His)
|
rs190917891
|
0.00017
|
|
NM_004525.3(LRP2):c.2210C>T (p.Ser737Leu)
|
rs201860953
|
0.00017
|
|
NM_004560.4(ROR2):c.2694G>C (p.Gln898His)
|
rs141070315
|
0.00017
|
|
NM_004560.4(ROR2):c.2698G>A (p.Ala900Thr)
|
rs202213533
|
0.00017
|
|
NM_004560.4(ROR2):c.380C>T (p.Thr127Met)
|
rs375080866
|
0.00017
|
|
NM_004715.5(CTDP1):c.669G>A (p.Thr223=)
|
rs146831211
|
0.00017
|
|
NM_004817.4(TJP2):c.705G>T (p.Arg235=)
|
rs750625862
|
0.00017
|
|
NM_004840.3(ARHGEF6):c.262G>C (p.Asp88His)
|
rs149768069
|
0.00017
|
|
NM_004999.4(MYO6):c.262-12T>G
|
rs368072756
|
0.00017
|
|
NM_005219.5(DIAPH1):c.301-5C>T
|
rs190481949
|
0.00017
|
|
NM_005502.4(ABCA1):c.2444A>G (p.Glu815Gly)
|
rs145582736
|
0.00017
|
|
NM_005535.3(IL12RB1):c.735G>A (p.Val245=)
|
rs17878522
|
0.00017
|
|
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr)
|
rs376722127
|
0.00017
|
|
NM_005802.5(TOPORS):c.2862A>C (p.Thr954=)
|
rs143560726
|
0.00017
|
|
NM_005989.4(AKR1D1):c.396C>T (p.Tyr132=)
|
rs149920599
|
0.00017
|
|
NM_006005.3(WFS1):c.1774C>G (p.Leu592Val)
|
rs759136937
|
0.00017
|
|
NM_006005.3(WFS1):c.975C>T (p.Asn325=)
|
rs141177727
|
0.00017
|
|
NM_006019.4(TCIRG1):c.1227C>T (p.His409=)
|
rs145080707
|
0.00017
|
|
NM_006348.5(COG5):c.1725G>A (p.Glu575=)
|
rs145128460
|
0.00017
|
|
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln)
|
rs141801816
|
0.00017
|
|
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr)
|
rs201326295
|
0.00017
|
|
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=)
|
rs79606317
|
0.00017
|
|
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp)
|
rs149018756
|
0.00017
|
|
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys)
|
rs138379074
|
0.00017
|
|
NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys)
|
rs143212851
|
0.00017
|
|
NM_016239.4(MYO15A):c.2116G>A (p.Ala706Thr)
|
rs932191004
|
0.00017
|
|
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser)
|
rs750242131
|
0.00017
|
|
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly)
|
rs139337746
|
0.00017
|
|
NM_020987.5(ANK3):c.4907G>A (p.Arg1636Lys)
|
rs188159332
|
0.00017
|
|
NM_022042.4(SLC26A1):c.197G>A (p.Arg66Gln)
|
rs201219683
|
0.00017
|
|
NM_022095.4(ZNF335):c.2961G>A (p.Gln987=)
|
rs181061162
|
0.00017
|
|
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=)
|
rs371932558
|
0.00017
|
|
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr)
|
rs559617787
|
0.00017
|
|
NM_022464.5(SIL1):c.699T>C (p.Asn233=)
|
rs140891877
|
0.00017
|
|
NM_024306.5(FA2H):c.925G>A (p.Val309Ile)
|
rs150427439
|
0.00017
|
|
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=)
|
rs376944136
|
0.00017
|
|
NM_024596.5(MCPH1):c.1443C>T (p.Ile481=)
|
rs185736569
|
0.00017
|
|
NM_024598.4(USB1):c.512T>C (p.Ile171Thr)
|
rs149725439
|
0.00017
|
|
NM_025074.7(FRAS1):c.10234C>T (p.Arg3412Cys)
|
rs187826477
|
0.00017
|
|
NM_025074.7(FRAS1):c.4032G>T (p.Gly1344=)
|
rs371941648
|
0.00017
|
|
NM_025074.7(FRAS1):c.990A>G (p.Glu330=)
|
rs374045395
|
0.00017
|
|
NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe)
|
rs371716779
|
0.00017
|
|
NM_030665.4(RAI1):c.5379C>T (p.Gly1793=)
|
rs372539998
|
0.00017
|
|
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg)
|
rs182698253
|
0.00017
|
|
NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His)
|
rs200907244
|
0.00017
|
|
NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly)
|
rs200541858
|
0.00017
|
|
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=)
|
rs201089046
|
0.00017
|
|
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile)
|
rs146158125
|
0.00017
|
|
NM_052945.4(TNFRSF13C):c.375G>A (p.Glu125=)
|
rs371805226
|
0.00017
|
|
NM_080680.3(COL11A2):c.1002G>C (p.Glu334Asp)
|
rs34415548
|
0.00017
|
|
NM_130837.3(OPA1):c.70A>G (p.Ile24Val)
|
rs201520438
|
0.00017
|
|
NM_133642.5(LARGE1):c.584G>A (p.Arg195His)
|
rs147597912
|
0.00017
|
|
NM_138691.3(TMC1):c.2070G>A (p.Ala690=)
|
rs145757452
|
0.00017
|
|
NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys)
|
rs137972270
|
0.00017
|
|
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=)
|
rs200679577
|
0.00017
|
|
NM_138711.6(PPARG):c.391-3C>T
|
rs370830238
|
0.00017
|
|
NM_144997.7(FLCN):c.580C>T (p.Arg194Trp)
|
rs138070947
|
0.00017
|
|
NM_000037.4(ANK1):c.3282G>A (p.Thr1094=)
|
rs144821829
|
0.00016
|
|
NM_000037.4(ANK1):c.5376C>T (p.Thr1792=)
|
rs147232364
|
0.00016
|
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
|
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp)
|
rs377714939
|
0.00016
|
|
NM_000053.4(ATP7B):c.445G>A (p.Val149Met)
|
rs200606656
|
0.00016
|
|
NM_000057.4(BLM):c.3751+10C>T
|
rs199685140
|
0.00016
|
|
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=)
|
rs528563981
|
0.00016
|
|
NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp)
|
rs138541733
|
0.00016
|
|
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met)
|
rs147112322
|
0.00016
|
|
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=)
|
rs202019404
|
0.00016
|
|
NM_000081.4(LYST):c.6291C>T (p.Ala2097=)
|
rs199857997
|
0.00016
|
|
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu)
|
rs148686474
|
0.00016
|
|
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu)
|
rs371717486
|
0.00016
|
|
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr)
|
rs200450557
|
0.00016
|
|
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)
|
rs143352280
|
0.00016
|
|
NM_000094.4(COL7A1):c.7793C>T (p.Pro2598Leu)
|
rs200138839
|
0.00016
|
|
NM_000123.4(ERCC5):c.1711C>T (p.Pro571Ser)
|
rs141763734
|
0.00016
|
|
NM_000128.4(F11):c.1431C>T (p.Ser477=)
|
rs149568223
|
0.00016
|
|
NM_000130.5(F5):c.4972-14A>C
|
rs763080313
|
0.00016
|
|
NM_000130.5(F5):c.524A>G (p.His175Arg)
|
rs201510575
|
0.00016
|
|
NM_000130.5(F5):c.628C>A (p.Gln210Lys)
|
rs144937515
|
0.00016
|
|
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys)
|
rs151089298
|
0.00016
|
|
NM_000135.4(FANCA):c.1226-13G>C
|
rs377159744
|
0.00016
|
|
NM_000135.4(FANCA):c.2504+6C>G
|
rs749556479
|
0.00016
|
|
NM_000135.4(FANCA):c.688G>A (p.Val230Ile)
|
rs144560850
|
0.00016
|
|
NM_000137.4(FAH):c.150T>C (p.Phe50=)
|
rs186471906
|
0.00016
|
|
NM_000137.4(FAH):c.741C>T (p.Leu247=)
|
rs145851627
|
0.00016
|
|
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu)
|
rs146469379
|
0.00016
|
|
NM_000159.4(GCDH):c.627C>T (p.Thr209=)
|
rs143172809
|
0.00016
|
|
NM_000162.5(GCK):c.735G>A (p.Glu245=)
|
rs775481896
|
0.00016
|
|
NM_000170.3(GLDC):c.2024A>C (p.Asn675Thr)
|
rs749513146
|
0.00016
|
|
NM_000203.5(IDUA):c.1863A>C (p.Arg621=)
|
rs762586
|
0.00016
|
|
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys)
|
rs200237798
|
0.00016
|
|
NM_000203.5(IDUA):c.663C>G (p.Pro221=)
|
rs368553582
|
0.00016
|
|
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp)
|
rs140452381
|
0.00016
|
|
NM_000222.3(KIT):c.1674G>A (p.Lys558=)
|
rs200375589
|
0.00016
|
|
NM_000237.3(LPL):c.1325T>G (p.Val442Gly)
|
rs116403115
|
0.00016
|
|
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)
|
rs192378817
|
0.00016
|
|
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=)
|
rs570316231
|
0.00016
|
|
NM_000264.5(PTCH1):c.499G>A (p.Ala167Thr)
|
rs149547604
|
0.00016
|
|
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln)
|
rs373274825
|
0.00016
|
|
NM_000335.5(SCN5A):c.5334G>A (p.Thr1778=)
|
rs41311121
|
0.00016
|
|
NM_000350.3(ABCA4):c.5312+8G>A
|
rs187953772
|
0.00016
|
|
NM_000352.6(ABCC8):c.3399+12C>T
|
rs372561049
|
0.00016
|
|
NM_000352.6(ABCC8):c.4412-14C>T
|
rs193922404
|
0.00016
|
|
NM_000360.4(TH):c.585G>A (p.Ser195=)
|
rs376615793
|
0.00016
|
|
NM_000384.3(APOB):c.7721C>T (p.Ala2574Val)
|
rs150843941
|
0.00016
|
|
NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser)
|
rs142756262
|
0.00016
|
|
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr)
|
rs1799792
|
0.00016
|
|
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)
|
rs137852313
|
0.00016
|
|
NM_000419.5(ITGA2B):c.1394-14C>T
|
rs368062044
|
0.00016
|
|
NM_000419.5(ITGA2B):c.2348+15G>A
|
rs200571001
|
0.00016
|
|
NM_000443.4(ABCB4):c.366A>G (p.Gly122=)
|
rs113445400
|
0.00016
|
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
|
NM_000515.5(GH1):c.468T>C (p.Asp156=)
|
rs201849388
|
0.00016
|
|
NM_000520.6(HEXA):c.582G>A (p.Ala194=)
|
rs112614306
|
0.00016
|
|
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr)
|
rs140627230
|
0.00016
|
|
NM_000521.4(HEXB):c.1670A>G (p.Ter557=)
|
rs576145664
|
0.00016
|
|
NM_000525.4(KCNJ11):c.1017G>T (p.Val339=)
|
rs770408379
|
0.00016
|
|
NM_000527.5(LDLR):c.564C>T (p.Tyr188=)
|
rs121908034
|
0.00016
|
|
NM_000528.4(MAN2B1):c.1209C>A (p.Arg403=)
|
rs559827776
|
0.00016
|
|
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser)
|
rs753397171
|
0.00016
|
|
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)
|
rs148945108
|
0.00016
|
|
NM_000536.4(RAG2):c.367C>T (p.Arg123Cys)
|
rs147319483
|
0.00016
|
|
NM_000540.3(RYR1):c.4257C>T (p.Asn1419=)
|
rs36042816
|
0.00016
|
|
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)
|
rs776194441
|
0.00016
|
|
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=)
|
rs149185729
|
0.00016
|
|
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)
|
rs144777676
|
0.00016
|
|
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
|
rs200950673
|
0.00016
|
|
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)
|
rs587778397
|
0.00016
|
|
NM_000628.5(IL10RB):c.763G>A (p.Ala255Thr)
|
rs182875134
|
0.00016
|
|
NM_000642.3(AGL):c.1895T>C (p.Ile632Thr)
|
rs138823746
|
0.00016
|
|
NM_000642.3(AGL):c.4575T>A (p.Ile1525=)
|
rs372116308
|
0.00016
|
|
NM_000666.3(ACY1):c.805A>G (p.Met269Val)
|
rs201775925
|
0.00016
|
|
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=)
|
rs143608852
|
0.00016
|
|
NM_001002755.4(NFU1):c.62+10G>A
|
rs773351968
|
0.00016
|
|
NM_001005242.3(PKP2):c.176A>T (p.Gln59Leu)
|
rs730880179
|
0.00016
|
|
NM_001005242.3(PKP2):c.336+17T>G
|
rs185681814
|
0.00016
|
|
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe)
|
rs138077101
|
0.00016
|
|
NM_001034850.3(RETREG1):c.86C>T (p.Pro29Leu)
|
rs528532732
|
0.00016
|
|
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)
|
rs547005691
|
0.00016
|
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
|
NM_001035.3(RYR2):c.2755G>A (p.Val919Met)
|
rs201079716
|
0.00016
|
|
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His)
|
rs373024059
|
0.00016
|
|
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)
|
rs185237690
|
0.00016
|
|
NM_001040108.2(MLH3):c.713A>C (p.Tyr238Ser)
|
rs144707485
|
0.00016
|
|
NM_001060.6(TBXA2R):c.713A>G (p.Asp238Gly)
|
rs201310328
|
0.00016
|
|
NM_001083961.2(WDR62):c.189G>T (p.Glu63Asp)
|
rs201053854
|
0.00016
|
|
NM_001126121.2(SLC25A19):c.504C>T (p.Ser168=)
|
rs148474667
|
0.00016
|
|
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)
|
rs139983909
|
0.00016
|
|
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)
|
rs143059463
|
0.00016
|
|
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser)
|
rs730880182
|
0.00016
|
|
NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys)
|
rs372048968
|
0.00016
|
|
NM_001134363.3(RBM20):c.2145C>T (p.Pro715=)
|
rs764304126
|
0.00016
|
|
NM_001142800.2(EYS):c.5025T>C (p.Ser1675=)
|
rs995130689
|
0.00016
|
|
NM_001142800.2(EYS):c.5883T>G (p.Thr1961=)
|
rs779530881
|
0.00016
|
|
NM_001142800.2(EYS):c.6732A>G (p.Thr2244=)
|
rs899618893
|
0.00016
|
|
NM_001142864.4(PIEZO1):c.4662C>T (p.Leu1554=)
|
rs751557941
|
0.00016
|
|
NM_001164508.2(NEB):c.20440C>T (p.Arg6814Cys)
|
rs765806782
|
0.00016
|
|
NM_001164508.2(NEB):c.21270G>T (p.Pro7090=)
|
rs368887173
|
0.00016
|
|
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu)
|
rs367626762
|
0.00016
|
|
NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala)
|
rs200269437
|
0.00016
|
|
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=)
|
rs375569766
|
0.00016
|
|
NM_001164508.2(NEB):c.3879+8G>A
|
rs376511134
|
0.00016
|
|
NM_001164508.2(NEB):c.5420C>T (p.Ala1807Val)
|
rs373790988
|
0.00016
|
|
NM_001164508.2(NEB):c.7227+13T>G
|
rs373818296
|
0.00016
|
|
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu)
|
rs151187637
|
0.00016
|
|
NM_001171.6(ABCC6):c.1944-8G>A
|
rs373223582
|
0.00016
|
|
NM_001174089.2(SLC4A11):c.1700G>A (p.Gly567Asp)
|
rs139078082
|
0.00016
|
|
NM_001182.5(ALDH7A1):c.393+15T>C
|
rs183254966
|
0.00016
|
|
NM_001194998.2(CEP152):c.186C>T (p.Asp62=)
|
rs548567364
|
0.00016
|
|
NM_001194998.2(CEP152):c.3394C>G (p.Gln1132Glu)
|
rs199917740
|
0.00016
|
|
NM_001199563.2(BVES):c.574A>G (p.Asn192Asp)
|
rs145098126
|
0.00016
|
|
NM_001200.4(BMP2):c.1041G>A (p.Thr347=)
|
rs143654141
|
0.00016
|
|
NM_001205293.3(CACNA1E):c.6500G>A (p.Arg2167Gln)
|
rs370385055
|
0.00016
|
|
NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp)
|
rs201139273
|
0.00016
|
|
NM_001252024.2(TRPM1):c.2653A>G (p.Ile885Val)
|
rs201650867
|
0.00016
|
|
NM_001256545.2(MEGF10):c.2176G>A (p.Ala726Thr)
|
rs139884665
|
0.00016
|
|
NM_001277115.2(DNAH11):c.13346G>A (p.Arg4449His)
|
rs138945257
|
0.00016
|
|
NM_001277115.2(DNAH11):c.13398C>T (p.Pro4466=)
|
rs72658836
|
0.00016
|
|
NM_001288705.3(CSF1R):c.237G>A (p.Thr79=)
|
rs146145627
|
0.00016
|
|
NM_001349338.3(FOXP1):c.1217C>G (p.Thr406Ser)
|
rs200355554
|
0.00016
|
|
NM_001365088.1(SLC12A6):c.1139G>A (p.Arg380His)
|
rs375887656
|
0.00016
|
|
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser)
|
rs368959723
|
0.00016
|
|
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr)
|
rs140700961
|
0.00016
|
|
NM_001369369.1(FOXN1):c.1886C>T (p.Thr629Met)
|
rs368962978
|
0.00016
|
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
|
NM_001378452.1(ITPR1):c.4843-7G>A
|
rs184969640
|
0.00016
|
|
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly)
|
rs111033449
|
0.00016
|
|
NM_001384474.1(LOXHD1):c.5985C>T (p.Asp1995=)
|
rs559560065
|
0.00016
|
|
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=)
|
rs141737883
|
0.00016
|
|
NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile)
|
rs202103224
|
0.00016
|
|
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro)
|
rs140187237
|
0.00016
|
|
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp)
|
rs763039506
|
0.00016
|
|
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp)
|
rs201646745
|
0.00016
|
|
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg)
|
rs201058867
|
0.00016
|
|
NM_001846.4(COL4A2):c.3257C>T (p.Ala1086Val)
|
rs370679299
|
0.00016
|
|
NM_001851.6(COL9A1):c.80G>A (p.Arg27His)
|
rs150026024
|
0.00016
|
|
NM_001853.4(COL9A3):c.1730G>A (p.Arg577Gln)
|
rs140377811
|
0.00016
|
|
NM_001853.4(COL9A3):c.763C>T (p.Pro255Ser)
|
rs201294093
|
0.00016
|
|
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr)
|
rs200186078
|
0.00016
|
|
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn)
|
rs199826380
|
0.00016
|
|
NM_002234.4(KCNA5):c.1672G>A (p.Gly558Arg)
|
rs201328038
|
0.00016
|
|
NM_002234.4(KCNA5):c.36T>C (p.Gly12=)
|
rs886049572
|
0.00016
|
|
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=)
|
rs144495959
|
0.00016
|
|
NM_002292.4(LAMB2):c.1797C>T (p.Phe599=)
|
rs376785056
|
0.00016
|
|
NM_002335.4(LRP5):c.1299C>T (p.Thr433=)
|
rs145362529
|
0.00016
|
|
NM_002386.4(MC1R):c.492C>T (p.Ala164=)
|
rs367985661
|
0.00016
|
|
NM_002439.5(MSH3):c.3174A>G (p.Gln1058=)
|
rs758314489
|
0.00016
|
|
NM_002474.3(MYH11):c.3309C>T (p.Ile1103=)
|
rs370854451
|
0.00016
|
|
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=)
|
rs771742318
|
0.00016
|
|
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)
|
rs146403088
|
0.00016
|
|
NM_002633.3(PGM1):c.900T>C (p.His300=)
|
rs145807501
|
0.00016
|
|
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys)
|
rs200931999
|
0.00016
|
|
NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser)
|
rs34044544
|
0.00016
|
|
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)
|
rs75783492
|
0.00016
|
|
NM_003126.4(SPTA1):c.3841C>T (p.Arg1281Cys)
|
rs199685020
|
0.00016
|
|
NM_003193.5(TBCE):c.847A>T (p.Ile283Phe)
|
rs200022583
|
0.00016
|
|
NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=)
|
rs371444130
|
0.00016
|
|
NM_003482.4(KMT2D):c.8579G>A (p.Arg2860His)
|
rs377747403
|
0.00016
|
|
NM_003722.5(TP63):c.992+10G>A
|
rs373106660
|
0.00016
|
|
NM_004385.5(VCAN):c.7065C>T (p.Ile2355=)
|
rs727504214
|
0.00016
|
|
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser)
|
rs369682599
|
0.00016
|
|
NM_005045.4(RELN):c.8212C>T (p.Arg2738Trp)
|
rs202166176
|
0.00016
|
|
NM_005245.4(FAT1):c.11720A>G (p.Asn3907Ser)
|
rs200662687
|
0.00016
|
|
NM_005271.5(GLUD1):c.1402+10G>A
|
rs202067232
|
0.00016
|
|
NM_005422.4(TECTA):c.3236A>G (p.Asp1079Gly)
|
rs562735582
|
0.00016
|
|
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp)
|
rs143437991
|
0.00016
|
|
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr)
|
rs373522639
|
0.00016
|
|
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)
|
rs190548494
|
0.00016
|
|
NM_005609.4(PYGM):c.951C>T (p.Phe317=)
|
rs71581789
|
0.00016
|
|
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile)
|
rs202094530
|
0.00016
|
|
NM_005902.4(SMAD3):c.984G>A (p.Pro328=)
|
rs150994304
|
0.00016
|
|
NM_006015.6(ARID1A):c.2718C>G (p.Asn906Lys)
|
rs201864573
|
0.00016
|
|
NM_006031.6(PCNT):c.6150+3G>A
|
rs760779996
|
0.00016
|
|
NM_006031.6(PCNT):c.9840-4G>A
|
rs199857861
|
0.00016
|
|
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu)
|
rs146152769
|
0.00016
|
|
NM_006182.4(DDR2):c.1153A>T (p.Thr385Ser)
|
rs749852883
|
0.00016
|
|
NM_006231.4(POLE):c.3862G>A (p.Ala1288Thr)
|
rs200398117
|
0.00016
|
|
NM_006348.5(COG5):c.454T>C (p.Leu152=)
|
rs200107630
|
0.00016
|
|
NM_006371.5(CRTAP):c.654C>T (p.Asn218=)
|
rs144486582
|
0.00016
|
|
NM_006516.4(SLC2A1):c.972+7del
|
rs531385270
|
0.00016
|
|
NM_006757.4(TNNT3):c.480+9C>T
|
rs374137056
|
0.00016
|
|
NM_006904.7(PRKDC):c.3898A>G (p.Ser1300Gly)
|
rs368949953
|
0.00016
|
|
NM_006904.7(PRKDC):c.5572-4G>A
|
rs367584015
|
0.00016
|
|
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys)
|
rs148595463
|
0.00016
|
|
NM_006946.4(SPTBN2):c.3374G>A (p.Arg1125Gln)
|
rs375601930
|
0.00016
|
|
NM_006946.4(SPTBN2):c.5495T>G (p.Leu1832Arg)
|
rs202081167
|
0.00016
|
|
NM_006949.4(STXBP2):c.1027-10C>T
|
rs201961771
|
0.00016
|
|
NM_007289.4(MME):c.445A>G (p.Ile149Val)
|
rs200157166
|
0.00016
|
|
NM_012062.5(DNM1L):c.2151A>G (p.Leu717=)
|
rs149256584
|
0.00016
|
|
NM_012203.2(GRHPR):c.343G>A (p.Ala115Thr)
|
rs113602485
|
0.00016
|
|
NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=)
|
rs117876038
|
0.00016
|
|
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)
|
rs146154135
|
0.00016
|
|
NM_014813.3(LRIG2):c.1648C>T (p.Arg550Cys)
|
rs201326654
|
0.00016
|
|
NM_014855.3(AP5Z1):c.1965G>A (p.Ser655=)
|
rs543467648
|
0.00016
|
|
NM_015330.6(SPECC1L):c.1399C>T (p.Arg467Cys)
|
rs145506280
|
0.00016
|
|
NM_015909.4(NBAS):c.5983C>G (p.Arg1995Gly)
|
rs767134813
|
0.00016
|
|
NM_015972.4(POLR1D):c.177C>T (p.Ile59=)
|
rs144597856
|
0.00016
|
|
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=)
|
rs150942110
|
0.00016
|
|
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp)
|
rs185873402
|
0.00016
|
|
NM_016239.4(MYO15A):c.850G>A (p.Glu284Lys)
|
rs201006627
|
0.00016
|
|
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=)
|
rs142509316
|
0.00016
|
|
NM_017654.4(SAMD9):c.662G>A (p.Arg221Gln)
|
rs148603551
|
0.00016
|
|
NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe)
|
rs140665334
|
0.00016
|
|
NM_018136.5(ASPM):c.1980C>T (p.Ile660=)
|
rs151087446
|
0.00016
|
|
NM_018344.6(SLC29A3):c.987C>T (p.Asn329=)
|
rs147814367
|
0.00016
|
|
NM_019032.6(ADAMTSL4):c.2120C>T (p.Ala707Val)
|
rs200834788
|
0.00016
|
|
NM_019098.5(CNGB3):c.474C>T (p.Pro158=)
|
rs151230930
|
0.00016
|
|
NM_020247.5(COQ8A):c.730+7C>T
|
rs370924314
|
0.00016
|
|
NM_020549.5(CHAT):c.2212A>G (p.Lys738Glu)
|
rs142285373
|
0.00016
|
|
NM_020745.4(AARS2):c.2471T>C (p.Ile824Thr)
|
rs146765163
|
0.00016
|
|
NM_021076.4(NEFH):c.1575G>C (p.Lys525Asn)
|
rs149183166
|
0.00016
|
|
NM_021615.5(CHST6):c.301C>T (p.Leu101=)
|
rs373160858
|
0.00016
|
|
NM_022042.4(SLC26A1):c.760C>T (p.Arg254Cys)
|
rs370834972
|
0.00016
|
|
NM_022095.4(ZNF335):c.3639C>T (p.Thr1213=)
|
rs191074858
|
0.00016
|
|
NM_022124.6(CDH23):c.2176+12C>T
|
rs371967419
|
0.00016
|
|
NM_022124.6(CDH23):c.6050-10C>T
|
rs560760228
|
0.00016
|
|
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=)
|
rs142571722
|
0.00016
|
|
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)
|
rs141854925
|
0.00016
|
|
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu)
|
rs143413607
|
0.00016
|
|
NM_024753.5(TTC21B):c.3131G>A (p.Arg1044Gln)
|
rs140908725
|
0.00016
|
|
NM_024876.4(COQ8B):c.826G>C (p.Ala276Pro)
|
rs200480831
|
0.00016
|
|
NM_025074.7(FRAS1):c.9356A>G (p.Asn3119Ser)
|
rs191105001
|
0.00016
|
|
NM_025137.4(SPG11):c.2169C>T (p.Gly723=)
|
rs371338650
|
0.00016
|
|
NM_025137.4(SPG11):c.4490A>G (p.Asn1497Ser)
|
rs747973076
|
0.00016
|
|
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)
|
rs150823040
|
0.00016
|
|
NM_030665.4(RAI1):c.1476C>T (p.Pro492=)
|
rs200887225
|
0.00016
|
|
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met)
|
rs368106957
|
0.00016
|
|
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=)
|
rs181500247
|
0.00016
|
|
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met)
|
rs1996552
|
0.00016
|
|
NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=)
|
rs115239207
|
0.00016
|
|
NM_032119.4(ADGRV1):c.17613G>A (p.Gln5871=)
|
rs371091564
|
0.00016
|
|
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn)
|
rs201800819
|
0.00016
|
|
NM_032737.4(LMNB2):c.1406C>T (p.Ser469Leu)
|
rs369942106
|
0.00016
|
|
NM_033004.4(NLRP1):c.2142C>G (p.His714Gln)
|
rs147100948
|
0.00016
|
|
NM_052813.5(CARD9):c.1260G>A (p.Thr420=)
|
rs142757984
|
0.00016
|
|
NM_053013.4(ENO3):c.249C>T (p.Ser83=)
|
rs145859308
|
0.00016
|
|
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=)
|
rs370153686
|
0.00016
|
|
NM_054027.6(ANKH):c.846A>G (p.Thr282=)
|
rs139013878
|
0.00016
|
|
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met)
|
rs201076557
|
0.00016
|
|
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)
|
rs376797260
|
0.00016
|
|
NM_080916.3(DGUOK):c.366G>C (p.Gln122His)
|
rs199645258
|
0.00016
|
|
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser)
|
rs180747605
|
0.00016
|
|
NM_133497.4(KCNV2):c.1196C>T (p.Ala399Val)
|
rs200444639
|
0.00016
|
|
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His)
|
rs200497761
|
0.00016
|
|
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)
|
rs200511208
|
0.00016
|
|
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=)
|
rs138989655
|
0.00016
|
|
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys)
|
rs146745096
|
0.00016
|
|
NM_138694.4(PKHD1):c.633G>A (p.Gly211=)
|
rs144025892
|
0.00016
|
|
NM_139343.3(BIN1):c.1003-13C>T
|
rs374490688
|
0.00016
|
|
NM_145200.5(CABP4):c.242C>T (p.Ala81Val)
|
rs148140510
|
0.00016
|
|
NM_145200.5(CABP4):c.605C>T (p.Thr202Met)
|
rs150929930
|
0.00016
|
|
NM_152383.5(DIS3L2):c.2424G>A (p.Gln808=)
|
rs369113667
|
0.00016
|
|
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile)
|
rs141793014
|
0.00016
|
|
NM_152564.5(VPS13B):c.3083-9C>T
|
rs376659281
|
0.00016
|
|
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=)
|
rs368851580
|
0.00016
|
|
NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His)
|
rs147099791
|
0.00016
|
|
NM_152783.5(D2HGDH):c.768C>T (p.Ile256=)
|
rs377034676
|
0.00016
|
|
NM_172364.5(CACNA2D4):c.2516C>T (p.Ala839Val)
|
rs146752598
|
0.00016
|
|
NM_174878.3(CLRN1):c.226T>C (p.Leu76=)
|
rs139829306
|
0.00016
|
|
NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr)
|
rs150514959
|
0.00016
|
|
NM_194248.3(OTOF):c.2590C>T (p.Arg864Cys)
|
rs150070091
|
0.00016
|
|
NM_198334.3(GANAB):c.1210C>T (p.Arg404Trp)
|
rs143499716
|
0.00016
|
|
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys)
|
rs142617606
|
0.00016
|
|
NM_206933.4(USH2A):c.9037G>A (p.Ala3013Thr)
|
rs149813671
|
0.00016
|
|
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)
|
rs528342000
|
0.00016
|
|
NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala)
|
rs200373970
|
0.00015
|
|
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys)
|
rs780425464
|
0.00015
|
|
NM_000026.4(ADSL):c.357+6C>T
|
rs181628906
|
0.00015
|
|
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)
|
rs138098808
|
0.00015
|
|
NM_000051.4(ATM):c.2887A>G (p.Met963Val)
|
rs374353016
|
0.00015
|
|
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val)
|
rs201784750
|
0.00015
|
|
NM_000083.3(CLCN1):c.2722A>G (p.Asn908Asp)
|
rs146862992
|
0.00015
|
|
NM_000094.4(COL7A1):c.3724-6C>T
|
rs370390884
|
0.00015
|
|
NM_000128.4(F11):c.596-6G>A
|
rs369721182
|
0.00015
|
|
NM_000135.4(FANCA):c.1413C>T (p.Val471=)
|
rs201561753
|
0.00015
|
|
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)
|
rs149775657
|
0.00015
|
|
NM_000153.4(GALC):c.1629C>T (p.Ala543=)
|
rs201055535
|
0.00015
|
|
NM_000162.5(GCK):c.364-13G>A
|
rs372405219
|
0.00015
|
|
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro)
|
rs190496263
|
0.00015
|
|
NM_000204.5(CFI):c.608C>T (p.Thr203Ile)
|
rs138346388
|
0.00015
|
|
NM_000211.5(ITGB2):c.228C>T (p.Asp76=)
|
rs368629638
|
0.00015
|
|
NM_000222.3(KIT):c.2484C>T (p.Asn828=)
|
rs141347955
|
0.00015
|
|
NM_000260.4(MYO7A):c.4471G>A (p.Val1491Met)
|
rs369768947
|
0.00015
|
|
NM_000260.4(MYO7A):c.5087G>A (p.Arg1696Gln)
|
rs368862510
|
0.00015
|
|
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met)
|
rs374691153
|
0.00015
|
|
NM_000271.5(NPC1):c.1948-11G>A
|
rs371122321
|
0.00015
|
|
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)
|
rs373435883
|
0.00015
|
|
NM_000302.4(PLOD1):c.897G>A (p.Pro299=)
|
rs199946373
|
0.00015
|
|
NM_000316.3(PTH1R):c.638+9G>A
|
rs371052201
|
0.00015
|
|
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr)
|
rs142905862
|
0.00015
|
|
NM_000383.4(AIRE):c.600G>A (p.Pro200=)
|
rs754331960
|
0.00015
|
|
NM_000384.3(APOB):c.4970C>T (p.Thr1657Met)
|
rs144239254
|
0.00015
|
|
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr)
|
rs143283146
|
0.00015
|
|
NM_000540.3(RYR1):c.14304-10G>A
|
rs368201693
|
0.00015
|
|
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)
|
rs146754847
|
0.00015
|
|
NM_000540.3(RYR1):c.3924G>C (p.Pro1308=)
|
rs144350050
|
0.00015
|
|
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)
|
rs148041292
|
0.00015
|
|
NM_000883.4(IMPDH1):c.754G>T (p.Ala252Ser)
|
rs756851981
|
0.00015
|
|
NM_001005242.3(PKP2):c.195C>T (p.Ala65=)
|
rs397517014
|
0.00015
|
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
|
NM_001083961.2(WDR62):c.3087C>T (p.Cys1029=)
|
rs141344823
|
0.00015
|
|
NM_001114753.3(ENG):c.321G>T (p.Leu107=)
|
rs767907933
|
0.00015
|
|
NM_001127453.2(GSDME):c.325G>A (p.Val109Ile)
|
rs202227661
|
0.00015
|
|
NM_001142800.2(EYS):c.453T>A (p.Val151=)
|
rs373183802
|
0.00015
|
|
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp)
|
rs376617920
|
0.00015
|
|
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile)
|
rs200523155
|
0.00015
|
|
NM_001164508.2(NEB):c.22535C>T (p.Pro7512Leu)
|
rs376609115
|
0.00015
|
|
NM_001199799.2(ILDR1):c.307G>A (p.Ala103Thr)
|
rs200130100
|
0.00015
|
|
NM_001277115.2(DNAH11):c.9869C>G (p.Ser3290Cys)
|
rs201494403
|
0.00015
|
|
NM_001291303.3(FAT4):c.6094A>G (p.Thr2032Ala)
|
rs147314754
|
0.00015
|
|
NM_001292063.2(OTOG):c.2871G>A (p.Val957=)
|
rs539784682
|
0.00015
|
|
NM_001365999.1(SZT2):c.137C>T (p.Thr46Ile)
|
rs139147641
|
0.00015
|
|
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr)
|
rs373632943
|
0.00015
|
|
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=)
|
rs142961295
|
0.00015
|
|
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr)
|
rs201003494
|
0.00015
|
|
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=)
|
rs543329958
|
0.00015
|
|
NM_001457.4(FLNB):c.2095C>T (p.Arg699Trp)
|
rs200554477
|
0.00015
|
|
NM_001457.4(FLNB):c.4814G>A (p.Arg1605His)
|
rs201630300
|
0.00015
|
|
NM_001458.5(FLNC):c.3304C>T (p.Pro1102Ser)
|
rs199707920
|
0.00015
|
|
NM_001558.4(IL10RA):c.1283C>T (p.Pro428Leu)
|
rs752519410
|
0.00015
|
|
NM_001613.4(ACTA2):c.174C>T (p.Asp58=)
|
rs150547139
|
0.00015
|
|
NM_001845.6(COL4A1):c.1753C>T (p.Arg585Cys)
|
rs374223828
|
0.00015
|
|
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr)
|
rs569940067
|
0.00015
|
|
NM_001845.6(COL4A1):c.3712C>T (p.Arg1238Cys)
|
rs148801165
|
0.00015
|
|
NM_002291.3(LAMB1):c.1447C>T (p.Arg483Cys)
|
rs139568495
|
0.00015
|
|
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)
|
rs267606904
|
0.00015
|
|
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln)
|
rs149241435
|
0.00015
|
|
NM_002485.5(NBN):c.38-10T>A
|
rs556807466
|
0.00015
|
|
NM_002979.5(SCP2):c.348C>T (p.Val116=)
|
rs202234745
|
0.00015
|
|
NM_003849.4(SUCLG1):c.395C>G (p.Ala132Gly)
|
rs376171433
|
0.00015
|
|
NM_004320.6(ATP2A1):c.1722G>A (p.Glu574=)
|
rs145043756
|
0.00015
|
|
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn)
|
rs372989292
|
0.00015
|
|
NM_004453.4(ETFDH):c.972+13C>T
|
rs199589412
|
0.00015
|
|
NM_004525.3(LRP2):c.8132G>A (p.Arg2711His)
|
rs190037522
|
0.00015
|
|
NM_004817.4(TJP2):c.1473C>A (p.Ala491=)
|
rs138509345
|
0.00015
|
|
NM_005245.4(FAT1):c.4599+6C>T
|
rs201798649
|
0.00015
|
|
NM_005422.4(TECTA):c.33C>A (p.Val11=)
|
rs140393508
|
0.00015
|
|
NM_005857.5(ZMPSTE24):c.325T>G (p.Cys109Gly)
|
rs141386841
|
0.00015
|
|
NM_006005.3(WFS1):c.1012A>G (p.Ile338Val)
|
rs541594934
|
0.00015
|
|
NM_006005.3(WFS1):c.2667G>A (p.Ala889=)
|
rs71526454
|
0.00015
|
|
NM_006031.6(PCNT):c.1370A>G (p.Glu457Gly)
|
rs147868583
|
0.00015
|
|
NM_006182.4(DDR2):c.932G>A (p.Ser311Asn)
|
rs189870832
|
0.00015
|
|
NM_006214.4(PHYH):c.606C>A (p.Asn202Lys)
|
rs201979258
|
0.00015
|
|
NM_006361.6(HOXB13):c.6G>A (p.Glu2=)
|
rs371544984
|
0.00015
|
|
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=)
|
rs756942664
|
0.00015
|
|
NM_012062.5(DNM1L):c.285C>T (p.His95=)
|
rs374173514
|
0.00015
|
|
NM_014339.7(IL17RA):c.1046G>C (p.Gly349Ala)
|
rs143897670
|
0.00015
|
|
NM_014727.3(KMT2B):c.5728C>G (p.Pro1910Ala)
|
rs377408813
|
0.00015
|
|
NM_015627.3(LDLRAP1):c.375C>T (p.His125=)
|
rs146134293
|
0.00015
|
|
NM_016239.4(MYO15A):c.3092C>T (p.Thr1031Ile)
|
rs377182808
|
0.00015
|
|
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly)
|
rs199953758
|
0.00015
|
|
NM_018136.5(ASPM):c.2761-11T>C
|
rs368239890
|
0.00015
|
|
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=)
|
rs143642515
|
0.00015
|
|
NM_020822.3(KCNT1):c.2595-9C>T
|
rs369966222
|
0.00015
|
|
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His)
|
rs200724225
|
0.00015
|
|
NM_021628.3(ALOXE3):c.365G>T (p.Cys122Phe)
|
rs142479006
|
0.00015
|
|
NM_022124.6(CDH23):c.4786C>T (p.Arg1596Cys)
|
rs372636295
|
0.00015
|
|
NM_022437.3(ABCG8):c.342G>A (p.Leu114=)
|
rs150970273
|
0.00015
|
|
NM_022489.4(INF2):c.2185G>A (p.Ala729Thr)
|
rs533208785
|
0.00015
|
|
NM_024105.4(ALG12):c.55G>A (p.Ala19Thr)
|
rs138266806
|
0.00015
|
|
NM_024422.6(DSC2):c.1521-7C>T
|
rs374810953
|
0.00015
|
|
NM_024513.4(FYCO1):c.2037G>A (p.Ala679=)
|
rs373400491
|
0.00015
|
|
NM_024589.3(ROGDI):c.823-15C>T
|
rs372520122
|
0.00015
|
|
NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln)
|
rs376163622
|
0.00015
|
|
NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys)
|
rs144403346
|
0.00015
|
|
NM_025137.4(SPG11):c.5011C>T (p.His1671Tyr)
|
rs141011688
|
0.00015
|
|
NM_030665.4(RAI1):c.1740G>A (p.Pro580=)
|
rs138768616
|
0.00015
|
|
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)
|
rs201393026
|
0.00015
|
|
NM_032119.4(ADGRV1):c.2538G>A (p.Leu846=)
|
rs375415491
|
0.00015
|
|
NM_032119.4(ADGRV1):c.3671C>T (p.Thr1224Ile)
|
rs554285146
|
0.00015
|
|
NM_032119.4(ADGRV1):c.6269G>A (p.Arg2090His)
|
rs370252248
|
0.00015
|
|
NM_033305.3(VPS13A):c.7047G>A (p.Glu2349=)
|
rs552113529
|
0.00015
|
|
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr)
|
rs145219220
|
0.00015
|
|
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)
|
rs199900211
|
0.00015
|
|
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn)
|
rs199897497
|
0.00015
|
|
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn)
|
rs201066635
|
0.00015
|
|
NM_138711.6(PPARG):c.417G>A (p.Leu139=)
|
rs41415646
|
0.00015
|
|
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)
|
rs199680057
|
0.00015
|
|
NM_182914.3(SYNE2):c.16856A>G (p.Asp5619Gly)
|
rs139187222
|
0.00015
|
|
NM_194248.3(OTOF):c.4363-6G>A
|
rs199567872
|
0.00015
|
|
NM_198407.2(GHSR):c.1070G>A (p.Arg357Gln)
|
rs202112906
|
0.00015
|
|
NM_198525.3(KIF7):c.952G>A (p.Ala318Thr)
|
rs756368261
|
0.00015
|
|
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro)
|
rs145114473
|
0.00015
|
|
NM_206933.4(USH2A):c.1590A>T (p.Thr530=)
|
rs144343161
|
0.00015
|
|
NM_206933.4(USH2A):c.5299-10T>C
|
rs375279569
|
0.00015
|
|
NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala)
|
rs138574386
|
0.00015
|
|
NM_000017.4(ACADS):c.825C>T (p.Ile275=)
|
rs200652158
|
0.00014
|
|
NM_000018.4(ACADVL):c.1227G>A (p.Thr409=)
|
rs778531268
|
0.00014
|
|
NM_000022.4(ADA):c.591T>A (p.His197Gln)
|
rs142456343
|
0.00014
|
|
NM_000022.4(ADA):c.864T>G (p.Ala288=)
|
rs146614184
|
0.00014
|
|
NM_000027.4(AGA):c.941-5C>T
|
rs377622082
|
0.00014
|
|
NM_000037.4(ANK1):c.4341T>C (p.Ser1447=)
|
rs112677283
|
0.00014
|
|
NM_000037.4(ANK1):c.5601G>A (p.Ala1867=)
|
rs150975400
|
0.00014
|
|
NM_000038.6(APC):c.7109G>T (p.Gly2370Val)
|
rs140079759
|
0.00014
|
|
NM_000049.4(ASPA):c.427A>G (p.Ile143Val)
|
rs199565861
|
0.00014
|
|
NM_000051.4(ATM):c.3077+4G>A
|
rs201222237
|
0.00014
|
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
|
NM_000053.4(ATP7B):c.2475G>A (p.Val825=)
|
rs373528664
|
0.00014
|
|
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=)
|
rs369620062
|
0.00014
|
|
NM_000053.4(ATP7B):c.3217G>A (p.Val1073Met)
|
rs376112375
|
0.00014
|
|
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe)
|
rs200563529
|
0.00014
|
|
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His)
|
rs142102094
|
0.00014
|
|
NM_000081.4(LYST):c.6388G>A (p.Asp2130Asn)
|
rs148371004
|
0.00014
|
|
NM_000081.4(LYST):c.7806A>G (p.Gln2602=)
|
rs372754364
|
0.00014
|
|
NM_000085.5(CLCNKB):c.1717T>C (p.Ser573Pro)
|
rs148173992
|
0.00014
|
|
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr)
|
rs374119389
|
0.00014
|
|
NM_000094.4(COL7A1):c.7217C>T (p.Pro2406Leu)
|
rs144788938
|
0.00014
|
|
NM_000095.3(COMP):c.951C>A (p.Asp317Glu)
|
rs200547692
|
0.00014
|
|
NM_000098.3(CPT2):c.1914A>G (p.Gln638=)
|
rs903915351
|
0.00014
|
|
NM_000098.3(CPT2):c.406G>T (p.Ala136Ser)
|
rs554813467
|
0.00014
|
|
NM_000130.5(F5):c.4333A>G (p.Thr1445Ala)
|
rs200204656
|
0.00014
|
|
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)
|
rs370575495
|
0.00014
|
|
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
|
rs191989961
|
0.00014
|
|
NM_000147.5(FUCA1):c.405G>A (p.Thr135=)
|
rs145153173
|
0.00014
|
|
NM_000155.4(GALT):c.688-4C>T
|
rs374014228
|
0.00014
|
|
NM_000158.4(GBE1):c.45G>A (p.Glu15=)
|
rs370326965
|
0.00014
|
|
NM_000162.5(GCK):c.213C>T (p.Val71=)
|
rs143128547
|
0.00014
|
|
NM_000170.3(GLDC):c.1974C>A (p.Ala658=)
|
rs534062853
|
0.00014
|
|
NM_000211.5(ITGB2):c.159G>A (p.Gly53=)
|
rs200150384
|
0.00014
|
|
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile)
|
rs77442996
|
0.00014
|
|
NM_000222.3(KIT):c.2234-3C>T
|
rs370131461
|
0.00014
|
|
NM_000243.3(MEFV):c.1770G>A (p.Leu590=)
|
rs139692347
|
0.00014
|
|
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr)
|
rs782481491
|
0.00014
|
|
NM_000261.2(MYOC):c.376C>T (p.Arg126Trp)
|
rs200120115
|
0.00014
|
|
NM_000277.3(PAH):c.442-18G>A
|
rs149538764
|
0.00014
|
|
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp)
|
rs11553676
|
0.00014
|
|
NM_000303.3(PMM2):c.634A>G (p.Met212Val)
|
rs3743808
|
0.00014
|
|
NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=)
|
rs200228396
|
0.00014
|
|
NM_000383.4(AIRE):c.880-7G>A
|
rs141955483
|
0.00014
|
|
NM_000384.3(APOB):c.2914G>A (p.Gly972Ser)
|
rs199893862
|
0.00014
|
|
NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met)
|
rs370971334
|
0.00014
|
|
NM_000433.4(NCF2):c.197G>A (p.Arg66Gln)
|
rs142803799
|
0.00014
|
|
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu)
|
rs371738874
|
0.00014
|
|
NM_000465.4(BARD1):c.279A>G (p.Gln93=)
|
rs370000575
|
0.00014
|
|
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val)
|
rs781277635
|
0.00014
|
|
NM_000481.4(AMT):c.858C>A (p.Gly286=)
|
rs367726589
|
0.00014
|
|
NM_000484.4(APP):c.1689T>C (p.Asp563=)
|
rs137865262
|
0.00014
|
|
NM_000492.4(CFTR):c.2559T>C (p.Ile853=)
|
rs1800104
|
0.00014
|
|
NM_000532.5(PCCB):c.654+3A>C
|
rs199886085
|
0.00014
|
|
NM_000540.3(RYR1):c.2676C>T (p.Tyr892=)
|
rs375402078
|
0.00014
|
|
NM_000540.3(RYR1):c.641C>T (p.Thr214Met)
|
rs727504129
|
0.00014
|
|
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile)
|
rs200797340
|
0.00014
|
|
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp)
|
rs373939435
|
0.00014
|
|
NM_000628.5(IL10RB):c.954G>A (p.Pro318=)
|
rs374161818
|
0.00014
|
|
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly)
|
rs150637770
|
0.00014
|
|
NM_000642.3(AGL):c.846+14G>A
|
rs376827010
|
0.00014
|
|
NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser)
|
rs144433265
|
0.00014
|
|
NM_000875.5(IGF1R):c.605A>G (p.Asn202Ser)
|
rs145668206
|
0.00014
|
|
NM_000883.4(IMPDH1):c.1386G>A (p.Leu462=)
|
rs144587211
|
0.00014
|
|
NM_000942.5(PPIB):c.569G>A (p.Arg190Gln)
|
rs200864554
|
0.00014
|
|
NM_001004334.4(GPR179):c.5058C>T (p.Ala1686=)
|
rs376750375
|
0.00014
|
|
NM_001005373.4(LRSAM1):c.894G>A (p.Thr298=)
|
rs771491533
|
0.00014
|
|
NM_001008537.3(NEXMIF):c.206C>T (p.Ser69Phe)
|
rs201351157
|
0.00014
|
|
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
|
rs200450676
|
0.00014
|
|
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val)
|
rs148492494
|
0.00014
|
|
NM_001079.4(ZAP70):c.981C>G (p.Asp327Glu)
|
rs201605654
|
0.00014
|
|
NM_001082971.2(DDC):c.366C>T (p.Leu122=)
|
rs377528325
|
0.00014
|
|
NM_001083961.2(WDR62):c.824C>T (p.Ser275Leu)
|
rs202014178
|
0.00014
|
|
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp)
|
rs200372420
|
0.00014
|
|
NM_001128840.3(CACNA1D):c.1385G>A (p.Arg462Gln)
|
rs35057005
|
0.00014
|
|
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu)
|
rs150717638
|
0.00014
|
|
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)
|
rs147678255
|
0.00014
|
|
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile)
|
rs397516596
|
0.00014
|
|
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile)
|
rs727505310
|
0.00014
|
|
NM_001134363.3(RBM20):c.3512C>T (p.Thr1171Met)
|
rs371181124
|
0.00014
|
|
NM_001145809.2(MYH14):c.4827G>A (p.Leu1609=)
|
rs201418071
|
0.00014
|
|
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr)
|
rs138001307
|
0.00014
|
|
NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg)
|
rs368150737
|
0.00014
|
|
NM_001164508.2(NEB):c.21861G>A (p.Arg7287=)
|
rs372808358
|
0.00014
|
|
NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu)
|
rs201976154
|
0.00014
|
|
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys)
|
rs576076237
|
0.00014
|
|
NM_001171.6(ABCC6):c.2995+6C>T
|
rs373896559
|
0.00014
|
|
NM_001177316.2(SLC34A3):c.305-7G>A
|
rs201109343
|
0.00014
|
|
NM_001243279.3(ACSF3):c.1613+8T>G
|
rs1358602745
|
0.00014
|
|
NM_001252024.2(TRPM1):c.924G>A (p.Ser308=)
|
rs376610188
|
0.00014
|
|
NM_001253697.2(ERBIN):c.360G>A (p.Val120=)
|
rs369427319
|
0.00014
|
|
NM_001256545.2(MEGF10):c.2980+14A>G
|
rs370563737
|
0.00014
|
|
NM_001277115.2(DNAH11):c.3425+5C>G
|
rs776140118
|
0.00014
|
|
NM_001282225.2(ADA2):c.1065C>A (p.Phe355Leu)
|
rs116020027
|
0.00014
|
|
NM_001291303.3(FAT4):c.11153G>A (p.Arg3718His)
|
rs139635339
|
0.00014
|
|
NM_001291303.3(FAT4):c.11822T>C (p.Val3941Ala)
|
rs578140620
|
0.00014
|
|
NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile)
|
rs189261750
|
0.00014
|
|
NM_001330360.2(POLA1):c.3090+6A>G
|
rs370956790
|
0.00014
|
|
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
|
rs376210604
|
0.00014
|
|
NM_001353214.3(DYM):c.534A>G (p.Thr178=)
|
rs775696326
|
0.00014
|
|
NM_001355436.2(SPTB):c.2250C>T (p.Gly750=)
|
rs200908449
|
0.00014
|
|
NM_001358530.2(MOCS1):c.758-9C>T
|
rs368402544
|
0.00014
|
|
NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp)
|
rs766496010
|
0.00014
|
|
NM_001365999.1(SZT2):c.3638G>A (p.Arg1213His)
|
rs187427261
|
0.00014
|
|
NM_001367624.2(ZNF469):c.4422G>A (p.Ala1474=)
|
rs368877287
|
0.00014
|
|
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=)
|
rs144879072
|
0.00014
|
|
NM_001369.3(DNAH5):c.1648G>A (p.Glu550Lys)
|
rs145962029
|
0.00014
|
|
NM_001369.3(DNAH5):c.4596+5A>C
|
rs182677317
|
0.00014
|
|
NM_001369.3(DNAH5):c.6748G>A (p.Glu2250Lys)
|
rs201285946
|
0.00014
|
|
NM_001370466.1(NOD2):c.1118C>T (p.Pro373Leu)
|
rs779346494
|
0.00014
|
|
NM_001374385.1(ATP8B1):c.2337C>T (p.Tyr779=)
|
rs764863689
|
0.00014
|
|
NM_001374828.1(ARID1B):c.5678C>T (p.Ala1893Val)
|
rs201137071
|
0.00014
|
|
NM_001376.5(DYNC1H1):c.12102+6G>A
|
rs377669980
|
0.00014
|
|
NM_001377265.1(MAPT):c.1070C>T (p.Ser357Leu)
|
rs199644237
|
0.00014
|
|
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser)
|
rs376756158
|
0.00014
|
|
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln)
|
rs201804963
|
0.00014
|
|
NM_001378609.3(OTOGL):c.1111C>T (p.His371Tyr)
|
rs78377084
|
0.00014
|
|
NM_001457.4(FLNB):c.3886C>T (p.Pro1296Ser)
|
rs148350434
|
0.00014
|
|
NM_001457.4(FLNB):c.4590T>C (p.Tyr1530=)
|
rs141477764
|
0.00014
|
|
NM_001457.4(FLNB):c.7036C>T (p.Arg2346Cys)
|
rs149638325
|
0.00014
|
|
NM_001457.4(FLNB):c.864C>T (p.Asp288=)
|
rs141151998
|
0.00014
|
|
NM_001458.5(FLNC):c.1259G>A (p.Arg420Gln)
|
rs371410741
|
0.00014
|
|
NM_001458.5(FLNC):c.4367G>C (p.Gly1456Ala)
|
rs775049569
|
0.00014
|
|
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser)
|
rs374124083
|
0.00014
|
|
NM_001458.5(FLNC):c.5432G>A (p.Arg1811Gln)
|
rs369759751
|
0.00014
|
|
NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln)
|
rs758614807
|
0.00014
|
|
NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=)
|
rs142326550
|
0.00014
|
|
NM_001853.4(COL9A3):c.1529C>T (p.Thr510Met)
|
rs200521238
|
0.00014
|
|
NM_001853.4(COL9A3):c.331C>T (p.Pro111Ser)
|
rs374503994
|
0.00014
|
|
NM_001854.4(COL11A1):c.4270G>C (p.Ala1424Pro)
|
rs371230505
|
0.00014
|
|
NM_001854.4(COL11A1):c.946A>G (p.Ser316Gly)
|
rs369794634
|
0.00014
|
|
NM_001875.5(CPS1):c.2236C>A (p.Pro746Thr)
|
rs139740322
|
0.00014
|
|
NM_002185.5(IL7R):c.1096T>C (p.Ser366Pro)
|
rs201671392
|
0.00014
|
|
NM_002225.5(IVD):c.879-5G>A
|
rs750569823
|
0.00014
|
|
NM_002336.3(LRP6):c.246A>T (p.Lys82Asn)
|
rs199693693
|
0.00014
|
|
NM_002473.6(MYH9):c.4024C>T (p.Arg1342Trp)
|
rs147901502
|
0.00014
|
|
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=)
|
rs199564260
|
0.00014
|
|
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=)
|
rs757501817
|
0.00014
|
|
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val)
|
rs112948385
|
0.00014
|
|
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)
|
rs747315554
|
0.00014
|
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
|
NM_002529.4(NTRK1):c.584C>T (p.Thr195Met)
|
rs552776147
|
0.00014
|
|
NM_002979.5(SCP2):c.1074C>T (p.Gly358=)
|
rs74638331
|
0.00014
|
|
NM_002979.5(SCP2):c.15G>T (p.Pro5=)
|
rs147697594
|
0.00014
|
|
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=)
|
rs150457229
|
0.00014
|
|
NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln)
|
rs564887323
|
0.00014
|
|
NM_003126.4(SPTA1):c.749G>A (p.Arg250His)
|
rs759192785
|
0.00014
|
|
NM_003331.5(TYK2):c.2102G>C (p.Arg701Thr)
|
rs200791116
|
0.00014
|
|
NM_003361.4(UMOD):c.1763G>A (p.Arg588Gln)
|
rs387907549
|
0.00014
|
|
NM_003482.4(KMT2D):c.10444C>T (p.Arg3482Trp)
|
rs201127814
|
0.00014
|
|
NM_003560.4(PLA2G6):c.2259C>T (p.Val753=)
|
rs749966284
|
0.00014
|
|
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)
|
rs3737311
|
0.00014
|
|
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe)
|
rs143589037
|
0.00014
|
|
NM_003721.4(RFXANK):c.660C>T (p.Ala220=)
|
rs138423094
|
0.00014
|
|
NM_003737.4(DCHS1):c.1103G>A (p.Ser368Asn)
|
rs373185353
|
0.00014
|
|
NM_003737.4(DCHS1):c.6422G>A (p.Arg2141Gln)
|
rs141488333
|
0.00014
|
|
NM_003850.3(SUCLA2):c.21C>T (p.Tyr7=)
|
rs374479008
|
0.00014
|
|
NM_003859.3(DPM1):c.759A>G (p.Leu253=)
|
rs769964944
|
0.00014
|
|
NM_003937.3(KYNU):c.291-7A>G
|
rs369879960
|
0.00014
|
|
NM_004098.4(EMX2):c.653G>A (p.Gly218Asp)
|
rs200981903
|
0.00014
|
|
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)
|
rs200526913
|
0.00014
|
|
NM_004181.5(UCHL1):c.457C>T (p.Arg153Trp)
|
rs139583787
|
0.00014
|
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
|
NM_004415.4(DSP):c.521G>T (p.Cys174Phe)
|
rs377507763
|
0.00014
|
|
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=)
|
rs146882697
|
0.00014
|
|
NM_004667.6(HERC2):c.8329A>G (p.Met2777Val)
|
rs184647895
|
0.00014
|
|
NM_004793.4(LONP1):c.1379A>G (p.Asn460Ser)
|
rs373661439
|
0.00014
|
|
NM_004817.4(TJP2):c.1818G>A (p.Ser606=)
|
rs527789195
|
0.00014
|
|
NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu)
|
rs201366118
|
0.00014
|
|
NM_004935.4(CDK5):c.651-9C>T
|
rs76486938
|
0.00014
|
|
NM_005045.4(RELN):c.1013T>G (p.Val338Gly)
|
rs200513558
|
0.00014
|
|
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val)
|
rs116634494
|
0.00014
|
|
NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr)
|
rs139225791
|
0.00014
|
|
NM_005045.4(RELN):c.9329G>A (p.Arg3110Gln)
|
rs368572382
|
0.00014
|
|
NM_005235.3(ERBB4):c.2706C>T (p.Asp902=)
|
rs146441207
|
0.00014
|
|
NM_005262.3(GFER):c.536G>A (p.Arg179His)
|
rs199541169
|
0.00014
|
|
NM_005422.4(TECTA):c.6136G>A (p.Asp2046Asn)
|
rs769561057
|
0.00014
|
|
NM_005502.4(ABCA1):c.1780G>A (p.Ala594Thr)
|
rs199655961
|
0.00014
|
|
NM_005502.4(ABCA1):c.6730G>A (p.Val2244Ile)
|
rs144588452
|
0.00014
|
|
NM_005535.3(IL12RB1):c.1764C>T (p.Ser588=)
|
rs368969256
|
0.00014
|
|
NM_005546.4(ITK):c.1119A>G (p.Gln373=)
|
rs189091977
|
0.00014
|
|
NM_005787.6(ALG3):c.606-8C>T
|
rs368253820
|
0.00014
|
|
NM_005857.5(ZMPSTE24):c.933A>G (p.Glu311=)
|
rs150740479
|
0.00014
|
|
NM_005957.5(MTHFR):c.903G>A (p.Leu301=)
|
rs147979890
|
0.00014
|
|
NM_005993.5(TBCD):c.2368C>T (p.Arg790Trp)
|
rs200557085
|
0.00014
|
|
NM_006005.3(WFS1):c.1399C>T (p.Leu467=)
|
rs142700542
|
0.00014
|
|
NM_006005.3(WFS1):c.2054G>A (p.Arg685His)
|
rs142668478
|
0.00014
|
|
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu)
|
rs55674815
|
0.00014
|
|
NM_006031.6(PCNT):c.4216+9C>T
|
rs369876466
|
0.00014
|
|
NM_006031.6(PCNT):c.5603C>T (p.Ala1868Val)
|
rs369038814
|
0.00014
|
|
NM_006080.3(SEMA3A):c.1382T>C (p.Val461Ala)
|
rs144690677
|
0.00014
|
|
NM_006096.4(NDRG1):c.1134G>A (p.Ser378=)
|
rs750369546
|
0.00014
|
|
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val)
|
rs199827643
|
0.00014
|
|
NM_006231.4(POLE):c.3646G>A (p.Gly1216Ser)
|
rs200114024
|
0.00014
|
|
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys)
|
rs372901803
|
0.00014
|
|
NM_006420.3(ARFGEF2):c.4812G>A (p.Lys1604=)
|
rs142036030
|
0.00014
|
|
NM_006502.3(POLH):c.491-4T>G
|
rs185508862
|
0.00014
|
|
NM_006767.4(LZTR1):c.2407-18G>A
|
rs542841506
|
0.00014
|
|
NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe)
|
rs770374931
|
0.00014
|
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
|
NM_012280.4(FTSJ1):c.762A>G (p.Leu254=)
|
rs143734567
|
0.00014
|
|
NM_012434.5(SLC17A5):c.1365A>G (p.Glu455=)
|
rs192599733
|
0.00014
|
|
NM_014140.4(SMARCAL1):c.1413C>T (p.Ile471=)
|
rs149599324
|
0.00014
|
|
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln)
|
rs181341030
|
0.00014
|
|
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser)
|
rs138609508
|
0.00014
|
|
NM_014639.4(SKIC3):c.3603A>G (p.Arg1201=)
|
rs376083373
|
0.00014
|
|
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu)
|
rs145267929
|
0.00014
|
|
NM_014727.3(KMT2B):c.5981C>T (p.Ala1994Val)
|
rs546000224
|
0.00014
|
|
NM_014855.3(AP5Z1):c.684C>T (p.Ser228=)
|
rs746349613
|
0.00014
|
|
NM_015158.5(KANK1):c.151G>A (p.Asp51Asn)
|
rs201262082
|
0.00014
|
|
NM_015311.3(OBSL1):c.3850G>A (p.Gly1284Ser)
|
rs74589174
|
0.00014
|
|
NM_015340.4(LARS2):c.1383T>C (p.Ile461=)
|
rs35347543
|
0.00014
|
|
NM_015346.4(ZFYVE26):c.2396C>T (p.Thr799Met)
|
rs200179480
|
0.00014
|
|
NM_015915.5(ATL1):c.1152A>G (p.Pro384=)
|
rs377127492
|
0.00014
|
|
NM_016239.4(MYO15A):c.4424T>C (p.Ile1475Thr)
|
rs201808265
|
0.00014
|
|
NM_016327.3(UPB1):c.91G>A (p.Gly31Ser)
|
rs200145797
|
0.00014
|
|
NM_016343.4(CENPF):c.6826T>G (p.Cys2276Gly)
|
rs141620633
|
0.00014
|
|
NM_017636.4(TRPM4):c.742C>T (p.Arg248Cys)
|
rs373749900
|
0.00014
|
|
NM_017999.5(RNF31):c.3048C>T (p.Asp1016=)
|
rs377298249
|
0.00014
|
|
NM_018136.5(ASPM):c.7569A>G (p.Gln2523=)
|
rs148494695
|
0.00014
|
|
NM_018139.3(DNAAF2):c.824C>T (p.Ala275Val)
|
rs200291432
|
0.00014
|
|
NM_018344.6(SLC29A3):c.1347G>A (p.Thr449=)
|
rs373404056
|
0.00014
|
|
NM_018451.5(CENPJ):c.2500C>T (p.Leu834=)
|
rs148738982
|
0.00014
|
|
NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser)
|
rs146450828
|
0.00014
|
|
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln)
|
rs199772480
|
0.00014
|
|
NM_020297.4(ABCC9):c.1332C>T (p.Gly444=)
|
rs369830406
|
0.00014
|
|
NM_020297.4(ABCC9):c.3316-4A>C
|
rs201147809
|
0.00014
|
|
NM_020533.3(MCOLN1):c.856C>A (p.His286Asn)
|
rs145191057
|
0.00014
|
|
NM_020745.4(AARS2):c.785G>A (p.Arg262Gln)
|
rs139974034
|
0.00014
|
|
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
|
rs147219360
|
0.00014
|
|
NM_020987.5(ANK3):c.11251A>G (p.Ser3751Gly)
|
rs200489439
|
0.00014
|
|
NM_020987.5(ANK3):c.2385T>C (p.Asn795=)
|
rs372094828
|
0.00014
|
|
NM_021098.3(CACNA1H):c.1753C>T (p.Pro585Ser)
|
rs535609762
|
0.00014
|
|
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln)
|
rs376560330
|
0.00014
|
|
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365
|
0.00014
|
|
NM_022124.6(CDH23):c.4498T>A (p.Ser1500Thr)
|
rs375641853
|
0.00014
|
|
NM_022132.5(MCCC2):c.114C>G (p.Gly38=)
|
rs750638270
|
0.00014
|
|
NM_022367.4(SEMA4A):c.90C>T (p.Thr30=)
|
rs373565051
|
0.00014
|
|
NM_022455.5(NSD1):c.816C>A (p.Asn272Lys)
|
rs144524958
|
0.00014
|
|
NM_022773.4(LMF1):c.1471G>A (p.Asp491Asn)
|
rs532127028
|
0.00014
|
|
NM_024120.5(NDUFAF5):c.752T>C (p.Met251Thr)
|
rs200199681
|
0.00014
|
|
NM_024306.5(FA2H):c.202A>G (p.Arg68Gly)
|
rs750198250
|
0.00014
|
|
NM_025137.4(SPG11):c.6877C>T (p.Arg2293Trp)
|
rs151317653
|
0.00014
|
|
NM_030665.4(RAI1):c.2004C>T (p.Pro668=)
|
rs398124414
|
0.00014
|
|
NM_032119.4(ADGRV1):c.12369A>G (p.Ile4123Met)
|
rs202228562
|
0.00014
|
|
NM_032119.4(ADGRV1):c.14224G>A (p.Glu4742Lys)
|
rs372362723
|
0.00014
|
|
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn)
|
rs182395524
|
0.00014
|
|
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met)
|
rs201007778
|
0.00014
|
|
NM_032119.4(ADGRV1):c.5156C>T (p.Ala1719Val)
|
rs376126357
|
0.00014
|
|
NM_032119.4(ADGRV1):c.6029A>G (p.Lys2010Arg)
|
rs774354351
|
0.00014
|
|
NM_032119.4(ADGRV1):c.6119A>G (p.Tyr2040Cys)
|
rs374889159
|
0.00014
|
|
NM_032119.4(ADGRV1):c.6844A>G (p.Thr2282Ala)
|
rs369212457
|
0.00014
|
|
NM_032119.4(ADGRV1):c.8585A>G (p.Tyr2862Cys)
|
rs876657827
|
0.00014
|
|
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr)
|
rs142027515
|
0.00014
|
|
NM_033100.4(CDHR1):c.1187A>G (p.Asn396Ser)
|
rs145353541
|
0.00014
|
|
NM_033100.4(CDHR1):c.1751C>T (p.Thr584Met)
|
rs754321329
|
0.00014
|
|
NM_033124.5(CCDC65):c.683A>T (p.Asp228Val)
|
rs142550817
|
0.00014
|
|
NM_052845.4(MMAB):c.678T>C (p.Tyr226=)
|
rs111678627
|
0.00014
|
|
NM_052859.4(RFT1):c.136G>A (p.Val46Ile)
|
rs141174358
|
0.00014
|
|
NM_052989.3(IFT122):c.2577G>A (p.Glu859=)
|
rs201077232
|
0.00014
|
|
NM_053025.4(MYLK):c.2919G>A (p.Pro973=)
|
rs149482336
|
0.00014
|
|
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=)
|
rs146320279
|
0.00014
|
|
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=)
|
rs371602931
|
0.00014
|
|
NM_057176.3(BSND):c.102C>T (p.Tyr34=)
|
rs141403253
|
0.00014
|
|
NM_058246.4(DNAJB6):c.410C>T (p.Thr137Met)
|
rs149027078
|
0.00014
|
|
NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=)
|
rs146962984
|
0.00014
|
|
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu)
|
rs534570825
|
0.00014
|
|
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=)
|
rs140017436
|
0.00014
|
|
NM_133259.4(LRPPRC):c.2569A>G (p.Arg857Gly)
|
rs200138144
|
0.00014
|
|
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=)
|
rs139177541
|
0.00014
|
|
NM_133497.4(KCNV2):c.441C>A (p.Asp147Glu)
|
rs146659188
|
0.00014
|
|
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=)
|
rs776570716
|
0.00014
|
|
NM_138694.4(PKHD1):c.977-7C>G
|
rs1054774956
|
0.00014
|
|
NM_138694.4(PKHD1):c.9913A>G (p.Ile3305Val)
|
rs145745489
|
0.00014
|
|
NM_138959.3(VANGL1):c.231G>A (p.Thr77=)
|
rs186509771
|
0.00014
|
|
NM_139343.3(BIN1):c.1003-11C>G
|
rs759676621
|
0.00014
|
|
NM_139343.3(BIN1):c.681G>A (p.Leu227=)
|
rs199658397
|
0.00014
|
|
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg)
|
rs150767461
|
0.00014
|
|
NM_152564.5(VPS13B):c.1843+10T>C
|
rs371154826
|
0.00014
|
|
NM_152564.5(VPS13B):c.2333+12A>T
|
rs373498932
|
0.00014
|
|
NM_152564.5(VPS13B):c.3083-8G>A
|
rs201973611
|
0.00014
|
|
NM_152564.5(VPS13B):c.4746-7T>C
|
rs201136777
|
0.00014
|
|
NM_152564.5(VPS13B):c.5223C>A (p.Ile1741=)
|
rs144223843
|
0.00014
|
|
NM_152722.5(HEPACAM):c.803+8T>C
|
rs374953883
|
0.00014
|
|
NM_152783.5(D2HGDH):c.1515G>A (p.Leu505=)
|
rs376268002
|
0.00014
|
|
NM_153603.4(COG7):c.1972G>A (p.Ala658Thr)
|
rs115073082
|
0.00014
|
|
NM_153603.4(COG7):c.904G>A (p.Val302Met)
|
rs116314856
|
0.00014
|
|
NM_170601.5(SIAE):c.634G>A (p.Gly212Arg)
|
rs149466359
|
0.00014
|
|
NM_173630.4(RTTN):c.5055A>G (p.Leu1685=)
|
rs372431222
|
0.00014
|
|
NM_175875.5(SIX5):c.714C>G (p.Thr238=)
|
rs758444909
|
0.00014
|
|
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)
|
rs200758704
|
0.00014
|
|
NM_198904.4(GABRG2):c.243T>A (p.Leu81=)
|
rs143295869
|
0.00014
|
|
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=)
|
rs368883473
|
0.00014
|
|
NM_201525.4(ADGRG1):c.1287-6G>A
|
rs112805221
|
0.00014
|
|
NM_201525.4(ADGRG1):c.760C>T (p.Arg254Trp)
|
rs368130981
|
0.00014
|
|
NM_205861.3(DHDDS):c.990T>C (p.Thr330=)
|
rs773902080
|
0.00014
|
|
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)
|
rs200137051
|
0.00013
|
|
NM_000023.4(SGCA):c.981C>T (p.Ser327=)
|
rs368522117
|
0.00013
|
|
NM_000037.4(ANK1):c.2982G>A (p.Pro994=)
|
rs139623406
|
0.00013
|
|
NM_000046.5(ARSB):c.1533C>T (p.Pro511=)
|
rs528157833
|
0.00013
|
|
NM_000048.4(ASL):c.1056G>A (p.Thr352=)
|
rs745476328
|
0.00013
|
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
|
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr)
|
rs139289704
|
0.00013
|
|
NM_000053.4(ATP7B):c.1544-12T>C
|
rs201167060
|
0.00013
|
|
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)
|
rs369383272
|
0.00013
|
|
NM_000057.4(BLM):c.4113G>A (p.Thr1371=)
|
rs61754135
|
0.00013
|
|
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg)
|
rs142243359
|
0.00013
|
|
NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe)
|
rs556751671
|
0.00013
|
|
NM_000070.3(CAPN3):c.1800+12G>A
|
rs542523863
|
0.00013
|
|
NM_000085.5(CLCNKB):c.112T>C (p.Trp38Arg)
|
rs375301415
|
0.00013
|
|
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)
|
rs144751329
|
0.00013
|
|
NM_000094.4(COL7A1):c.8359-17T>A
|
rs200207978
|
0.00013
|
|
NM_000096.4(CP):c.93G>A (p.Thr31=)
|
rs201521886
|
0.00013
|
|
NM_000130.5(F5):c.4347G>A (p.Pro1449=)
|
rs145732153
|
0.00013
|
|
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)
|
rs200713354
|
0.00013
|
|
NM_000141.5(FGFR2):c.568C>T (p.Arg190Trp)
|
rs147987917
|
0.00013
|
|
NM_000152.5(GAA):c.2381G>A (p.Arg794His)
|
rs200505871
|
0.00013
|
|
NM_000162.5(GCK):c.1288C>T (p.Leu430=)
|
rs193922276
|
0.00013
|
|
NM_000187.4(HGD):c.1176C>T (p.Ala392=)
|
rs368805723
|
0.00013
|
|
NM_000211.5(ITGB2):c.714C>T (p.Asp238=)
|
rs752901414
|
0.00013
|
|
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=)
|
rs143497260
|
0.00013
|
|
NM_000255.4(MMUT):c.385+14G>A
|
rs199992904
|
0.00013
|
|
NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn)
|
rs372050452
|
0.00013
|
|
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=)
|
rs141659629
|
0.00013
|
|
NM_000274.4(OAT):c.1160-13T>A
|
rs372850085
|
0.00013
|
|
NM_000274.4(OAT):c.736C>T (p.Leu246=)
|
rs146882296
|
0.00013
|
|
NM_000293.3(PHKB):c.2197-10A>T
|
rs750018974
|
0.00013
|
|
NM_000335.5(SCN5A):c.1891-8G>A
|
rs12720064
|
0.00013
|
|
NM_000335.5(SCN5A):c.3837+12C>T
|
rs368550655
|
0.00013
|
|
NM_000350.3(ABCA4):c.741C>T (p.Asn247=)
|
rs372976742
|
0.00013
|
|
NM_000352.6(ABCC8):c.1818-6G>A
|
rs368708177
|
0.00013
|
|
NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=)
|
rs368419322
|
0.00013
|
|
NM_000384.3(APOB):c.2611G>A (p.Ala871Thr)
|
rs144622446
|
0.00013
|
|
NM_000384.3(APOB):c.3049A>C (p.Ser1017Arg)
|
rs149323475
|
0.00013
|
|
NM_000387.6(SLC25A20):c.535+6C>T
|
rs199770033
|
0.00013
|
|
NM_000392.5(ABCC2):c.2714G>A (p.Arg905Lys)
|
rs201874841
|
0.00013
|
|
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=)
|
rs933589600
|
0.00013
|
|
NM_000414.4(HSD17B4):c.11C>G (p.Pro4Arg)
|
rs142889209
|
0.00013
|
|
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met)
|
rs199620476
|
0.00013
|
|
NM_000440.3(PDE6A):c.594G>A (p.Val198=)
|
rs398123394
|
0.00013
|
|
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=)
|
rs541538556
|
0.00013
|
|
NM_000463.3(UGT1A1):c.1026A>T (p.Pro342=)
|
rs747062491
|
0.00013
|
|
NM_000492.4(CFTR):c.1679+16T>C
|
rs397508262
|
0.00013
|
|
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val)
|
rs555292896
|
0.00013
|
|
NM_000540.3(RYR1):c.11450A>T (p.Asp3817Val)
|
rs372491219
|
0.00013
|
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
|
NM_000540.3(RYR1):c.5548-19C>G
|
rs375020048
|
0.00013
|
|
NM_000540.3(RYR1):c.6251G>A (p.Arg2084Gln)
|
rs143681974
|
0.00013
|
|
NM_000540.3(RYR1):c.7672G>A (p.Val2558Met)
|
rs771523641
|
0.00013
|
|
NM_000540.3(RYR1):c.8079G>A (p.Pro2693=)
|
rs368063600
|
0.00013
|
|
NM_000545.8(HNF1A):c.521C>T (p.Ala174Val)
|
rs201934320
|
0.00013
|
|
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His)
|
rs368695808
|
0.00013
|
|
NM_000875.5(IGF1R):c.84G>A (p.Thr28=)
|
rs372748482
|
0.00013
|
|
NM_001008537.3(NEXMIF):c.2951A>G (p.Asn984Ser)
|
rs375623451
|
0.00013
|
|
NM_001031679.3(MSRB3):c.-67G>C
|
rs368104588
|
0.00013
|
|
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)
|
rs397516524
|
0.00013
|
|
NM_001035.3(RYR2):c.5373C>A (p.Thr1791=)
|
rs765283048
|
0.00013
|
|
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=)
|
rs199730192
|
0.00013
|
|
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=)
|
rs371581213
|
0.00013
|
|
NM_001083961.2(WDR62):c.2766C>T (p.Arg922=)
|
rs373906889
|
0.00013
|
|
NM_001083961.2(WDR62):c.391-10C>T
|
rs201568145
|
0.00013
|
|
NM_001127511.3(APC):c.119G>C (p.Ser40Thr)
|
rs587778028
|
0.00013
|
|
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser)
|
rs143815396
|
0.00013
|
|
NM_001128840.3(CACNA1D):c.5971C>T (p.Arg1991Trp)
|
rs367976757
|
0.00013
|
|
NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=)
|
rs199832007
|
0.00013
|
|
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn)
|
rs139194093
|
0.00013
|
|
NM_001130987.2(DYSF):c.5785-8C>T
|
rs201191038
|
0.00013
|
|
NM_001142800.2(EYS):c.5104T>C (p.Leu1702=)
|
rs564151798
|
0.00013
|
|
NM_001145809.2(MYH14):c.4740C>T (p.Asp1580=)
|
rs751909208
|
0.00013
|
|
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn)
|
rs199549660
|
0.00013
|
|
NM_001164508.2(NEB):c.1119G>A (p.Arg373=)
|
rs200914626
|
0.00013
|
|
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser)
|
rs199710125
|
0.00013
|
|
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys)
|
rs199907781
|
0.00013
|
|
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile)
|
rs142759891
|
0.00013
|
|
NM_001277115.2(DNAH11):c.3412T>C (p.Phe1138Leu)
|
rs200099996
|
0.00013
|
|
NM_001277115.2(DNAH11):c.5740G>T (p.Val1914Phe)
|
rs201671992
|
0.00013
|
|
NM_001291303.3(FAT4):c.1099G>A (p.Val367Ile)
|
rs747531733
|
0.00013
|
|
NM_001291303.3(FAT4):c.4549A>C (p.Ile1517Leu)
|
rs374899663
|
0.00013
|
|
NM_001292063.2(OTOG):c.883G>A (p.Val295Met)
|
rs186310325
|
0.00013
|
|
NM_001330.5(CTF1):c.145-13C>T
|
rs397516646
|
0.00013
|
|
NM_001365999.1(SZT2):c.8255G>A (p.Arg2752His)
|
rs150591561
|
0.00013
|
|
NM_001365999.1(SZT2):c.8424G>A (p.Leu2808=)
|
rs372935996
|
0.00013
|
|
NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys)
|
rs114315130
|
0.00013
|
|
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val)
|
rs200101760
|
0.00013
|
|
NM_001369.3(DNAH5):c.2571G>A (p.Met857Ile)
|
rs199667661
|
0.00013
|
|
NM_001369.3(DNAH5):c.5438A>G (p.Glu1813Gly)
|
rs199910966
|
0.00013
|
|
NM_001369369.1(FOXN1):c.497C>T (p.Ala166Val)
|
rs367793349
|
0.00013
|
|
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu)
|
rs147750747
|
0.00013
|
|
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe)
|
rs185504536
|
0.00013
|
|
NM_001378452.1(ITPR1):c.1450G>A (p.Val484Ile)
|
rs752031193
|
0.00013
|
|
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His)
|
rs200441305
|
0.00013
|
|
NM_001379081.2(FREM1):c.3471+9C>T
|
rs377668876
|
0.00013
|
|
NM_001384140.1(PCDH15):c.1548G>A (p.Val516=)
|
rs138177808
|
0.00013
|
|
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)
|
rs146199636
|
0.00013
|
|
NM_001457.4(FLNB):c.1748-5C>G
|
rs369919081
|
0.00013
|
|
NM_001457.4(FLNB):c.4873G>A (p.Ala1625Thr)
|
rs200727113
|
0.00013
|
|
NM_001457.4(FLNB):c.6028C>T (p.Arg2010Cys)
|
rs138034708
|
0.00013
|
|
NM_001457.4(FLNB):c.7641C>T (p.Ile2547=)
|
rs139582437
|
0.00013
|
|
NM_001458.5(FLNC):c.2297G>A (p.Arg766Gln)
|
rs369935650
|
0.00013
|
|
NM_001852.4(COL9A2):c.1049A>G (p.Asp350Gly)
|
rs765020486
|
0.00013
|
|
NM_001853.4(COL9A3):c.1663C>T (p.Arg555Trp)
|
rs201783992
|
0.00013
|
|
NM_001853.4(COL9A3):c.1735C>A (p.Pro579Thr)
|
rs758064613
|
0.00013
|
|
NM_001875.5(CPS1):c.121G>T (p.Val41Phe)
|
rs148708735
|
0.00013
|
|
NM_001943.5(DSG2):c.45+9C>G
|
rs376573409
|
0.00013
|
|
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala)
|
rs147610681
|
0.00013
|
|
NM_002204.4(ITGA3):c.2326G>T (p.Gly776Trp)
|
rs542802167
|
0.00013
|
|
NM_002234.4(KCNA5):c.1329C>T (p.Ile443=)
|
rs147209278
|
0.00013
|
|
NM_002437.5(MPV17):c.61C>G (p.Leu21Val)
|
rs200504529
|
0.00013
|
|
NM_002439.5(MSH3):c.1177G>A (p.Val393Met)
|
rs761779919
|
0.00013
|
|
NM_002439.5(MSH3):c.1194C>T (p.Gly398=)
|
rs141118996
|
0.00013
|
|
NM_002473.6(MYH9):c.928A>G (p.Ile310Val)
|
rs149789202
|
0.00013
|
|
NM_002485.5(NBN):c.1124+6G>T
|
rs375862750
|
0.00013
|
|
NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln)
|
rs764417252
|
0.00013
|
|
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg)
|
rs138608619
|
0.00013
|
|
NM_003036.4(SKI):c.640A>G (p.Ser214Gly)
|
rs139179843
|
0.00013
|
|
NM_003106.4(SOX2):c.54G>C (p.Ser18=)
|
rs757913217
|
0.00013
|
|
NM_003737.4(DCHS1):c.1160G>A (p.Arg387His)
|
rs145132459
|
0.00013
|
|
NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn)
|
rs200857579
|
0.00013
|
|
NM_003922.4(HERC1):c.9682G>A (p.Ala3228Thr)
|
rs201312041
|
0.00013
|
|
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=)
|
rs139270936
|
0.00013
|
|
NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala)
|
rs201394520
|
0.00013
|
|
NM_004273.5(CHST3):c.570C>T (p.Asp190=)
|
rs367857089
|
0.00013
|
|
NM_004415.4(DSP):c.1575-15C>G
|
rs369184165
|
0.00013
|
|
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)
|
rs111368396
|
0.00013
|
|
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00013
|
|
NM_004560.4(ROR2):c.2117G>A (p.Arg706Gln)
|
rs369717474
|
0.00013
|
|
NM_004655.4(AXIN2):c.1948C>T (p.Arg650Cys)
|
rs148419444
|
0.00013
|
|
NM_004817.4(TJP2):c.3063C>T (p.Ala1021=)
|
rs367977493
|
0.00013
|
|
NM_005529.7(HSPG2):c.3857A>G (p.Gln1286Arg)
|
rs199788526
|
0.00013
|
|
NM_005901.6(SMAD2):c.579G>A (p.Leu193=)
|
rs200480021
|
0.00013
|
|
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp)
|
rs200174202
|
0.00013
|
|
NM_006231.4(POLE):c.6531+5G>A
|
rs368538240
|
0.00013
|
|
NM_006348.5(COG5):c.1686+7A>G
|
rs373280339
|
0.00013
|
|
NM_006390.4(IPO8):c.3047G>T (p.Gly1016Val)
|
rs201904393
|
0.00013
|
|
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu)
|
rs41293451
|
0.00013
|
|
NM_007347.5(AP4E1):c.791A>G (p.Asn264Ser)
|
rs145541719
|
0.00013
|
|
NM_012470.4(TNPO3):c.857G>A (p.Arg286His)
|
rs140709222
|
0.00013
|
|
NM_014141.6(CNTNAP2):c.1777+7G>A
|
rs770951811
|
0.00013
|
|
NM_014141.6(CNTNAP2):c.209-11C>T
|
rs369056998
|
0.00013
|
|
NM_014141.6(CNTNAP2):c.939+14C>T
|
rs370916766
|
0.00013
|
|
NM_014339.7(IL17RA):c.847-14C>G
|
rs201410617
|
0.00013
|
|
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile)
|
rs201569239
|
0.00013
|
|
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)
|
rs186436335
|
0.00013
|
|
NM_014714.4(IFT140):c.3147C>T (p.Asn1049=)
|
rs150129370
|
0.00013
|
|
NM_014908.4(DOLK):c.633C>T (p.Arg211=)
|
rs147647278
|
0.00013
|
|
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=)
|
rs189186909
|
0.00013
|
|
NM_015192.4(PLCB1):c.724G>A (p.Val242Ile)
|
rs200567140
|
0.00013
|
|
NM_015215.4(CAMTA1):c.2568G>A (p.Ser856=)
|
rs374177752
|
0.00013
|
|
NM_015346.4(ZFYVE26):c.2742C>T (p.Ser914=)
|
rs140577908
|
0.00013
|
|
NM_015346.4(ZFYVE26):c.879G>A (p.Ser293=)
|
rs199794711
|
0.00013
|
|
NM_015378.4(VPS13D):c.8722A>T (p.Thr2908Ser)
|
rs184253678
|
0.00013
|
|
NM_015570.4(AUTS2):c.467G>A (p.Arg156His)
|
rs141278123
|
0.00013
|
|
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=)
|
rs377461918
|
0.00013
|
|
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr)
|
rs367863299
|
0.00013
|
|
NM_016247.4(IMPG2):c.335-16_335-15del
|
rs756480190
|
0.00013
|
|
NM_016302.4(CRBN):c.654A>G (p.Gln218=)
|
rs373145132
|
0.00013
|
|
NM_017721.5(CC2D1A):c.60+10C>A
|
rs769120532
|
0.00013
|
|
NM_017721.5(CC2D1A):c.959C>A (p.Pro320Gln)
|
rs765282375
|
0.00013
|
|
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp)
|
rs527295360
|
0.00013
|
|
NM_018249.6(CDK5RAP2):c.1892C>G (p.Ser631Cys)
|
rs376225756
|
0.00013
|
|
NM_018389.5(SLC35C1):c.747C>T (p.Leu249=)
|
rs567642788
|
0.00013
|
|
NM_018714.3(COG1):c.560+15C>T
|
rs201364732
|
0.00013
|
|
NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile)
|
rs201379287
|
0.00013
|
|
NM_019098.5(CNGB3):c.1833C>T (p.His611=)
|
rs368787128
|
0.00013
|
|
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=)
|
rs369176493
|
0.00013
|
|
NM_020699.4(GATAD2B):c.544C>T (p.Leu182=)
|
rs368676576
|
0.00013
|
|
NM_020987.5(ANK3):c.1789-10G>A
|
rs200791367
|
0.00013
|
|
NM_021098.3(CACNA1H):c.6440C>T (p.Pro2147Leu)
|
rs748980218
|
0.00013
|
|
NM_021830.5(TWNK):c.434C>T (p.Ala145Val)
|
rs143938897
|
0.00013
|
|
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp)
|
rs375195621
|
0.00013
|
|
NM_021930.6(RINT1):c.767G>A (p.Arg256Gln)
|
rs199512216
|
0.00013
|
|
NM_021957.4(GYS2):c.1890+12A>G
|
rs192853475
|
0.00013
|
|
NM_022095.4(ZNF335):c.648G>A (p.Pro216=)
|
rs201180565
|
0.00013
|
|
NM_022124.6(CDH23):c.1803C>G (p.Val601=)
|
rs201024982
|
0.00013
|
|
NM_024422.6(DSC2):c.1788G>A (p.Ala596=)
|
rs146161960
|
0.00013
|
|
NM_024537.4(CARS2):c.1448T>G (p.Leu483Trp)
|
rs766266851
|
0.00013
|
|
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr)
|
rs186029710
|
0.00013
|
|
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp)
|
rs149762843
|
0.00013
|
|
NM_024675.4(PALB2):c.232G>A (p.Val78Ile)
|
rs515726085
|
0.00013
|
|
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu)
|
rs147523309
|
0.00013
|
|
NM_025074.7(FRAS1):c.10128C>T (p.His3376=)
|
rs369331788
|
0.00013
|
|
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
|
rs200587974
|
0.00013
|
|
NM_025137.4(SPG11):c.2245-13A>G
|
rs200426807
|
0.00013
|
|
NM_031220.4(PITPNM3):c.2700C>T (p.Arg900=)
|
rs139901820
|
0.00013
|
|
NM_032119.4(ADGRV1):c.14605C>T (p.Leu4869Phe)
|
rs371563402
|
0.00013
|
|
NM_032119.4(ADGRV1):c.5264C>T (p.Ala1755Val)
|
rs185971062
|
0.00013
|
|
NM_032119.4(ADGRV1):c.6229G>A (p.Glu2077Lys)
|
rs200372116
|
0.00013
|
|
NM_032382.5(COG8):c.525G>A (p.Leu175=)
|
rs187905134
|
0.00013
|
|
NM_032581.4(HYCC1):c.1515A>G (p.Gln505=)
|
rs373948210
|
0.00013
|
|
NM_032634.4(PIGO):c.3070-12C>G
|
rs199864376
|
0.00013
|
|
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=)
|
rs375077719
|
0.00013
|
|
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu)
|
rs200659780
|
0.00013
|
|
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu)
|
rs139668636
|
0.00013
|
|
NM_033159.4(HYAL1):c.168C>T (p.Phe56=)
|
rs369935445
|
0.00013
|
|
NM_054027.6(ANKH):c.1461G>A (p.Met487Ile)
|
rs777229764
|
0.00013
|
|
NM_057176.3(BSND):c.16A>G (p.Thr6Ala)
|
rs201342416
|
0.00013
|
|
NM_080632.3(UPF3B):c.1118G>A (p.Arg373His)
|
rs146785878
|
0.00013
|
|
NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys)
|
rs199706677
|
0.00013
|
|
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn)
|
rs192769565
|
0.00013
|
|
NM_144599.5(NIPA1):c.753G>C (p.Ala251=)
|
rs199718530
|
0.00013
|
|
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His)
|
rs201562272
|
0.00013
|
|
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly)
|
rs201566948
|
0.00013
|
|
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu)
|
rs201723380
|
0.00013
|
|
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser)
|
rs576577339
|
0.00013
|
|
NM_183357.3(ADCY5):c.2845G>A (p.Val949Met)
|
rs151227955
|
0.00013
|
|
NM_183357.3(ADCY5):c.3684G>A (p.Leu1228=)
|
rs141058563
|
0.00013
|
|
NM_198525.3(KIF7):c.1922+13C>T
|
rs376321790
|
0.00013
|
|
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=)
|
rs148907696
|
0.00013
|
|
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln)
|
rs747390615
|
0.00013
|
|
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp)
|
rs140184929
|
0.00013
|
|
NM_206933.4(USH2A):c.8016G>A (p.Leu2672=)
|
rs368327746
|
0.00013
|
|
NM_207361.6(FREM2):c.6743-9C>T
|
rs749834830
|
0.00013
|
|
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)
|
rs144056494
|
0.00012
|
|
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)
|
rs200794097
|
0.00012
|
|
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)
|
rs587780600
|
0.00012
|
|
NM_000038.6(APC):c.6873A>T (p.Gln2291His)
|
rs148878262
|
0.00012
|
|
NM_000051.4(ATM):c.3628A>G (p.Met1210Val)
|
rs138212452
|
0.00012
|
|
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=)
|
rs145887771
|
0.00012
|
|
NM_000064.4(C3):c.2861G>A (p.Arg954His)
|
rs139864704
|
0.00012
|
|
NM_000067.3(CA2):c.35-7C>A
|
rs371766356
|
0.00012
|
|
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val)
|
rs146885451
|
0.00012
|
|
NM_000070.3(CAPN3):c.2106G>A (p.Ala702=)
|
rs144260889
|
0.00012
|
|
NM_000070.3(CAPN3):c.552G>A (p.Thr184=)
|
rs147808529
|
0.00012
|
|
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser)
|
rs200759521
|
0.00012
|
|
NM_000108.5(DLD):c.549G>A (p.Thr183=)
|
rs150630885
|
0.00012
|
|
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser)
|
rs368382074
|
0.00012
|
|
NM_000137.4(FAH):c.715A>T (p.Ile239Phe)
|
rs144228661
|
0.00012
|
|
NM_000137.4(FAH):c.864C>T (p.Cys288=)
|
rs370273424
|
0.00012
|
|
NM_000154.2(GALK1):c.1044C>T (p.Phe348=)
|
rs372653001
|
0.00012
|
|
NM_000199.5(SGSH):c.534C>T (p.His178=)
|
rs139484283
|
0.00012
|
|
NM_000214.3(JAG1):c.1706C>T (p.Thr569Met)
|
rs368438076
|
0.00012
|
|
NM_000215.4(JAK3):c.896T>C (p.Val299Ala)
|
rs571404212
|
0.00012
|
|
NM_000246.4(CIITA):c.1908G>A (p.Thr636=)
|
rs200398959
|
0.00012
|
|
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn)
|
rs151033581
|
0.00012
|
|
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=)
|
rs144439284
|
0.00012
|
|
NM_000316.3(PTH1R):c.1155C>T (p.Leu385=)
|
rs201360775
|
0.00012
|
|
NM_000335.5(SCN5A):c.4908C>T (p.Ile1636=)
|
rs200569112
|
0.00012
|
|
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=)
|
rs150870922
|
0.00012
|
|
NM_000350.3(ABCA4):c.5076C>T (p.Phe1692=)
|
rs148351929
|
0.00012
|
|
NM_000384.3(APOB):c.2258G>A (p.Gly753Glu)
|
rs148502464
|
0.00012
|
|
NM_000392.5(ABCC2):c.3081C>T (p.Tyr1027=)
|
rs201212360
|
0.00012
|
|
NM_000429.3(MAT1A):c.981G>A (p.Pro327=)
|
rs149163315
|
0.00012
|
|
NM_000465.4(BARD1):c.1152C>T (p.Ser384=)
|
rs368291318
|
0.00012
|
|
NM_000481.4(AMT):c.961G>A (p.Val321Met)
|
rs149457059
|
0.00012
|
|
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=)
|
rs148878126
|
0.00012
|
|
NM_000501.4(ELN):c.710G>C (p.Gly237Ala)
|
rs934014841
|
0.00012
|
|
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp)
|
rs141025671
|
0.00012
|
|
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)
|
rs181649030
|
0.00012
|
|
NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser)
|
rs367549284
|
0.00012
|
|
NM_001017995.3(SH3PXD2B):c.1542C>T (p.Pro514=)
|
rs780292269
|
0.00012
|
|
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)
|
rs768169831
|
0.00012
|
|
NM_001036.6(RYR3):c.923G>A (p.Arg308Gln)
|
rs201830013
|
0.00012
|
|
NM_001080467.3(MYO5B):c.2590G>A (p.Ala864Thr)
|
rs372432070
|
0.00012
|
|
NM_001080476.3(GRXCR1):c.825G>A (p.Thr275=)
|
rs370629848
|
0.00012
|
|
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu)
|
rs200177134
|
0.00012
|
|
NM_001128840.3(CACNA1D):c.1637A>G (p.Asn546Ser)
|
rs55797424
|
0.00012
|
|
NM_001128840.3(CACNA1D):c.5417A>G (p.Tyr1806Cys)
|
rs369626956
|
0.00012
|
|
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His)
|
rs199879861
|
0.00012
|
|
NM_001130987.2(DYSF):c.2593C>T (p.Arg865Trp)
|
rs200487610
|
0.00012
|
|
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=)
|
rs149087116
|
0.00012
|
|
NM_001145809.2(MYH14):c.3819C>T (p.Ala1273=)
|
rs750779364
|
0.00012
|
|
NM_001145809.2(MYH14):c.4445G>A (p.Arg1482Gln)
|
rs746594902
|
0.00012
|
|
NM_001164496.2(CFAP44):c.652del (p.Arg218fs)
|
rs772295550
|
0.00012
|
|
NM_001164508.2(NEB):c.16984G>A (p.Ala5662Thr)
|
rs375294508
|
0.00012
|
|
NM_001164508.2(NEB):c.18398A>G (p.Lys6133Arg)
|
rs199594449
|
0.00012
|
|
NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro)
|
rs184723737
|
0.00012
|
|
NM_001164508.2(NEB):c.2823G>A (p.Ala941=)
|
rs376849181
|
0.00012
|
|
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu)
|
rs201473194
|
0.00012
|
|
NM_001164508.2(NEB):c.6624G>A (p.Pro2208=)
|
rs373278622
|
0.00012
|
|
NM_001164508.2(NEB):c.7896A>G (p.Thr2632=)
|
rs377015178
|
0.00012
|
|
NM_001197104.2(KMT2A):c.3722G>C (p.Ser1241Thr)
|
rs142658261
|
0.00012
|
|
NM_001206999.2(CIT):c.4677C>T (p.Ala1559=)
|
rs372311430
|
0.00012
|
|
NM_001291303.3(FAT4):c.13193T>C (p.Ile4398Thr)
|
rs200729108
|
0.00012
|
|
NM_001292034.3(TAB2):c.156A>G (p.Arg52=)
|
rs143213478
|
0.00012
|
|
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu)
|
rs587783156
|
0.00012
|
|
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
|
rs200453837
|
0.00012
|
|
NM_001358530.2(MOCS1):c.1413C>T (p.Ala471=)
|
rs745789021
|
0.00012
|
|
NM_001363711.2(DUOX2):c.1268C>T (p.Thr423Ile)
|
rs201197899
|
0.00012
|
|
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val)
|
rs201939338
|
0.00012
|
|
NM_001369268.1(ACAN):c.1975C>G (p.Gln659Glu)
|
rs181923062
|
0.00012
|
|
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)
|
rs745404679
|
0.00012
|
|
NM_001374736.1(DST):c.3853A>G (p.Asn1285Asp)
|
rs201419873
|
0.00012
|
|
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=)
|
rs186864136
|
0.00012
|
|
NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln)
|
rs564701277
|
0.00012
|
|
NM_001377.3(DYNC2H1):c.9231+12G>A
|
rs369045696
|
0.00012
|
|
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser)
|
rs183855575
|
0.00012
|
|
NM_001457.4(FLNB):c.1640C>T (p.Ala547Val)
|
rs200619215
|
0.00012
|
|
NM_001457.4(FLNB):c.3032A>C (p.Glu1011Ala)
|
rs754708052
|
0.00012
|
|
NM_001481.3(GAS8):c.222G>T (p.Lys74Asn)
|
rs141234041
|
0.00012
|
|
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=)
|
rs550889206
|
0.00012
|
|
NM_001903.5(CTNNA1):c.1899+4A>G
|
rs371589105
|
0.00012
|
|
NM_001999.4(FBN2):c.2625T>C (p.Cys875=)
|
rs371502563
|
0.00012
|
|
NM_001999.4(FBN2):c.2990-14C>T
|
rs377500777
|
0.00012
|
|
NM_002185.5(IL7R):c.314G>A (p.Ser105Asn)
|
rs150051812
|
0.00012
|
|
NM_002185.5(IL7R):c.760G>A (p.Ala254Thr)
|
rs137868226
|
0.00012
|
|
NM_002234.4(KCNA5):c.797C>T (p.Thr266Ile)
|
rs369750762
|
0.00012
|
|
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=)
|
rs201999373
|
0.00012
|
|
NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=)
|
rs781092208
|
0.00012
|
|
NM_002439.5(MSH3):c.3181A>G (p.Arg1061Gly)
|
rs746782115
|
0.00012
|
|
NM_002769.5(PRSS1):c.390C>T (p.Thr130=)
|
rs561097415
|
0.00012
|
|
NM_002775.5(HTRA1):c.176G>C (p.Arg59Pro)
|
rs1246114252
|
0.00012
|
|
NM_002872.5(RAC2):c.545C>T (p.Thr182Met)
|
rs141308774
|
0.00012
|
|
NM_003240.5(LEFTY2):c.738-9C>T
|
rs576554454
|
0.00012
|
|
NM_003742.4(ABCB11):c.2757C>A (p.Thr919=)
|
rs374465656
|
0.00012
|
|
NM_003742.4(ABCB11):c.48G>A (p.Glu16=)
|
rs768192083
|
0.00012
|
|
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys)
|
rs201186216
|
0.00012
|
|
NM_004004.6(GJB2):c.120A>C (p.Ala40=)
|
rs561870637
|
0.00012
|
|
NM_004055.5(CAPN5):c.297+11G>A
|
rs374146255
|
0.00012
|
|
NM_004183.4(BEST1):c.992G>A (p.Arg331Gln)
|
rs201386186
|
0.00012
|
|
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn)
|
rs143727462
|
0.00012
|
|
NM_004415.4(DSP):c.7125G>A (p.Gly2375=)
|
rs141709096
|
0.00012
|
|
NM_004560.4(ROR2):c.2286G>A (p.Ser762=)
|
rs143759440
|
0.00012
|
|
NM_004817.4(TJP2):c.1656A>G (p.Gly552=)
|
rs150723764
|
0.00012
|
|
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)
|
rs748402153
|
0.00012
|
|
NM_005422.4(TECTA):c.2725C>T (p.Arg909Cys)
|
rs139132568
|
0.00012
|
|
NM_005529.7(HSPG2):c.11481C>T (p.Gly3827=)
|
rs150600286
|
0.00012
|
|
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln)
|
rs537908254
|
0.00012
|
|
NM_005529.7(HSPG2):c.5191C>T (p.Leu1731Phe)
|
rs201491948
|
0.00012
|
|
NM_006005.3(WFS1):c.728C>T (p.Ala243Val)
|
rs147147660
|
0.00012
|
|
NM_006015.6(ARID1A):c.1175C>A (p.Pro392His)
|
rs199906671
|
0.00012
|
|
NM_006231.4(POLE):c.5812-11_5812-10del
|
rs745976640
|
0.00012
|
|
NM_006383.4(CIB2):c.192G>A (p.Glu64=)
|
rs145415848
|
0.00012
|
|
NM_006623.4(PHGDH):c.390C>T (p.Asp130=)
|
rs148078511
|
0.00012
|
|
NM_006623.4(PHGDH):c.644-12G>A
|
rs370255821
|
0.00012
|
|
NM_006949.4(STXBP2):c.1393C>T (p.Arg465Cys)
|
rs542557411
|
0.00012
|
|
NM_012144.4(DNAI1):c.1001C>T (p.Ser334Phe)
|
rs1451350869
|
0.00012
|
|
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=)
|
rs146434058
|
0.00012
|
|
NM_013336.4(SEC61A1):c.76-4C>G
|
rs189545025
|
0.00012
|
|
NM_013435.3(RAX):c.612G>A (p.Leu204=)
|
rs753579122
|
0.00012
|
|
NM_014000.3(VCL):c.2796T>C (p.Asp932=)
|
rs140308982
|
0.00012
|
|
NM_014244.5(ADAMTS2):c.1815C>T (p.Tyr605=)
|
rs369654932
|
0.00012
|
|
NM_014244.5(ADAMTS2):c.2994G>T (p.Arg998=)
|
rs780314895
|
0.00012
|
|
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)
|
rs142236568
|
0.00012
|
|
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys)
|
rs141553858
|
0.00012
|
|
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn)
|
rs144715822
|
0.00012
|
|
NM_014679.5(CEP57):c.764A>G (p.Asn255Ser)
|
rs768269976
|
0.00012
|
|
NM_014714.4(IFT140):c.2768+12C>T
|
rs756491638
|
0.00012
|
|
NM_014908.4(DOLK):c.1446G>A (p.Ala482=)
|
rs201027607
|
0.00012
|
|
NM_015178.3(RHOBTB2):c.788C>T (p.Pro263Leu)
|
rs143278893
|
0.00012
|
|
NM_015192.4(PLCB1):c.1761A>G (p.Val587=)
|
rs143755415
|
0.00012
|
|
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser)
|
rs150241349
|
0.00012
|
|
NM_016219.5(MAN1B1):c.768C>T (p.Val256=)
|
rs145906530
|
0.00012
|
|
NM_016929.5(CLIC5):c.739C>T (p.Arg247Cys)
|
rs202022202
|
0.00012
|
|
NM_017775.4(TTC19):c.713T>C (p.Met238Thr)
|
rs140719848
|
0.00012
|
|
NM_018249.6(CDK5RAP2):c.4399A>G (p.Ile1467Val)
|
rs139924571
|
0.00012
|
|
NM_018263.6(ASXL2):c.13G>A (p.Gly5Arg)
|
rs371056638
|
0.00012
|
|
NM_018699.4(PRDM5):c.1605C>T (p.His535=)
|
rs150476884
|
0.00012
|
|
NM_018714.3(COG1):c.1230G>A (p.Pro410=)
|
rs148502827
|
0.00012
|
|
NM_018714.3(COG1):c.384G>A (p.Pro128=)
|
rs142827255
|
0.00012
|
|
NM_018979.4(WNK1):c.4788A>G (p.Gln1596=)
|
rs371448826
|
0.00012
|
|
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys)
|
rs200518324
|
0.00012
|
|
NM_020754.4(ARHGAP31):c.499G>A (p.Ala167Thr)
|
rs139733647
|
0.00012
|
|
NM_021957.4(GYS2):c.630G>A (p.Gly210=)
|
rs201503558
|
0.00012
|
|
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn)
|
rs369863178
|
0.00012
|
|
NM_022098.4(XPNPEP3):c.718A>T (p.Ile240Leu)
|
rs137859412
|
0.00012
|
|
NM_022437.3(ABCG8):c.578C>T (p.Ala193Val)
|
rs376362072
|
0.00012
|
|
NM_024700.4(SNIP1):c.559C>T (p.Arg187Trp)
|
rs186332019
|
0.00012
|
|
NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile)
|
rs201162086
|
0.00012
|
|
NM_025074.7(FRAS1):c.2862G>A (p.Thr954=)
|
rs144065807
|
0.00012
|
|
NM_031475.3(ESPN):c.1489G>A (p.Gly497Arg)
|
rs752185152
|
0.00012
|
|
NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=)
|
rs372350188
|
0.00012
|
|
NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg)
|
rs760510612
|
0.00012
|
|
NM_032409.3(PINK1):c.1251+10G>A
|
rs192131551
|
0.00012
|
|
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=)
|
rs377105091
|
0.00012
|
|
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys)
|
rs146682969
|
0.00012
|
|
NM_080680.3(COL11A2):c.4291C>T (p.Arg1431Trp)
|
rs369126897
|
0.00012
|
|
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser)
|
rs139116571
|
0.00012
|
|
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=)
|
rs376709130
|
0.00012
|
|
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala)
|
rs149866274
|
0.00012
|
|
NM_183075.3(CYP2U1):c.1004G>C (p.Ser335Thr)
|
rs142944337
|
0.00012
|
|
NM_183357.3(ADCY5):c.1174G>A (p.Val392Met)
|
rs140572299
|
0.00012
|
|
NM_183357.3(ADCY5):c.400G>A (p.Gly134Ser)
|
rs988224463
|
0.00012
|
|
NM_194248.3(OTOF):c.2180A>G (p.Asn727Ser)
|
rs200654171
|
0.00012
|
|
NM_194248.3(OTOF):c.2523+5G>A
|
rs201745796
|
0.00012
|
|
NM_198129.4(LAMA3):c.6389C>T (p.Ser2130Phe)
|
rs199684626
|
0.00012
|
|
NM_198334.3(GANAB):c.2588G>A (p.Arg863His)
|
rs146501208
|
0.00012
|
|
NM_198334.3(GANAB):c.920C>G (p.Pro307Arg)
|
rs201801499
|
0.00012
|
|
NM_198576.4(AGRN):c.1557C>T (p.Ala519=)
|
rs146185843
|
0.00012
|
|
NM_198578.4(LRRK2):c.177T>A (p.Asn59Lys)
|
rs150422099
|
0.00012
|
|
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)
|
rs62636290
|
0.00012
|
|
NM_206933.4(USH2A):c.7924A>G (p.Ile2642Val)
|
rs143523460
|
0.00012
|
|
NM_207361.6(FREM2):c.1737C>T (p.Ile579=)
|
rs144811771
|
0.00012
|
|
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met)
|
rs143172658
|
0.00011
|
|
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys)
|
rs369664123
|
0.00011
|
|
NM_000035.4(ALDOB):c.1011G>A (p.Gln337=)
|
rs566549564
|
0.00011
|
|
NM_000037.4(ANK1):c.3288G>A (p.Pro1096=)
|
rs140964621
|
0.00011
|
|
NM_000037.4(ANK1):c.3984+12C>T
|
rs200019819
|
0.00011
|
|
NM_000038.6(APC):c.277C>G (p.Leu93Val)
|
rs201567345
|
0.00011
|
|
NM_000038.6(APC):c.3875C>T (p.Thr1292Met)
|
rs371113837
|
0.00011
|
|
NM_000048.4(ASL):c.1047C>G (p.Val349=)
|
rs187877947
|
0.00011
|
|
NM_000049.4(ASPA):c.78C>T (p.Thr26=)
|
rs145616193
|
0.00011
|
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
|
NM_000062.3(SERPING1):c.1453C>G (p.Gln485Glu)
|
rs143997164
|
0.00011
|
|
NM_000064.4(C3):c.2047+7G>A
|
rs770932217
|
0.00011
|
|
NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile)
|
rs138837077
|
0.00011
|
|
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp)
|
rs757433005
|
0.00011
|
|
NM_000079.4(CHRNA1):c.1002+9G>A
|
rs368959759
|
0.00011
|
|
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp)
|
rs151171179
|
0.00011
|
|
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu)
|
rs781163705
|
0.00011
|
|
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln)
|
rs200443942
|
0.00011
|
|
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)
|
rs577618553
|
0.00011
|
|
NM_000094.4(COL7A1):c.1910C>T (p.Pro637Leu)
|
rs199967174
|
0.00011
|
|
NM_000094.4(COL7A1):c.3232C>T (p.Arg1078Cys)
|
rs149154108
|
0.00011
|
|
NM_000094.4(COL7A1):c.4069G>A (p.Gly1357Arg)
|
rs200741847
|
0.00011
|
|
NM_000094.4(COL7A1):c.4859G>A (p.Arg1620Gln)
|
rs373682717
|
0.00011
|
|
NM_000097.7(CPOX):c.299A>T (p.Glu100Val)
|
rs367822877
|
0.00011
|
|
NM_000117.3(EMD):c.598T>C (p.Trp200Arg)
|
rs374981936
|
0.00011
|
|
NM_000135.4(FANCA):c.2029G>A (p.Val677Met)
|
rs767396631
|
0.00011
|
|
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)
|
rs139289675
|
0.00011
|
|
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys)
|
rs376103033
|
0.00011
|
|
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr)
|
rs372430349
|
0.00011
|
|
NM_000141.5(FGFR2):c.625-10A>G
|
rs201512833
|
0.00011
|
|
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser)
|
rs139773438
|
0.00011
|
|
NM_000155.4(GALT):c.378-12G>A
|
rs151309174
|
0.00011
|
|
NM_000162.5(GCK):c.363+9C>T
|
rs200985182
|
0.00011
|
|
NM_000170.3(GLDC):c.1926+6T>C
|
rs200007891
|
0.00011
|
|
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val)
|
rs117460214
|
0.00011
|
|
NM_000187.4(HGD):c.141G>A (p.Ser47=)
|
rs541268108
|
0.00011
|
|
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)
|
rs746809894
|
0.00011
|
|
NM_000211.5(ITGB2):c.537C>T (p.Phe179=)
|
rs371548080
|
0.00011
|
|
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln)
|
rs149419694
|
0.00011
|
|
NM_000215.4(JAK3):c.119G>A (p.Arg40His)
|
rs56384680
|
0.00011
|
|
NM_000215.4(JAK3):c.649G>A (p.Val217Met)
|
rs202167678
|
0.00011
|
|
NM_000222.3(KIT):c.978C>T (p.Asn326=)
|
rs148594615
|
0.00011
|
|
NM_000230.3(LEP):c.21C>T (p.Cys7=)
|
rs201523305
|
0.00011
|
|
NM_000238.4(KCNH2):c.1641G>A (p.Ala547=)
|
rs149902084
|
0.00011
|
|
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)
|
rs367668576
|
0.00011
|
|
NM_000260.4(MYO7A):c.4130T>C (p.Phe1377Ser)
|
rs777168937
|
0.00011
|
|
NM_000260.4(MYO7A):c.4694C>T (p.Thr1565Met)
|
rs764915160
|
0.00011
|
|
NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr)
|
rs372344870
|
0.00011
|
|
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)
|
rs375307057
|
0.00011
|
|
NM_000274.4(OAT):c.478G>A (p.Val160Met)
|
rs148433929
|
0.00011
|
|
NM_000286.3(PEX12):c.1002G>A (p.Arg334=)
|
rs200283718
|
0.00011
|
|
NM_000289.6(PFKM):c.1063-5C>T
|
rs758178966
|
0.00011
|
|
NM_000289.6(PFKM):c.2121G>A (p.Ser707=)
|
rs370046842
|
0.00011
|
|
NM_000289.6(PFKM):c.638+15C>A
|
rs376150217
|
0.00011
|
|
NM_000290.4(PGAM2):c.480T>C (p.Ile160=)
|
rs780650903
|
0.00011
|
|
NM_000295.5(SERPINA1):c.1069G>A (p.Val357Met)
|
rs373630097
|
0.00011
|
|
NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=)
|
rs766128806
|
0.00011
|
|
NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr)
|
rs113817720
|
0.00011
|
|
NM_000298.6(PKLR):c.805G>T (p.Val269Phe)
|
rs200695047
|
0.00011
|
|
NM_000321.3(RB1):c.59C>T (p.Pro20Leu)
|
rs587778637
|
0.00011
|
|
NM_000322.5(PRPH2):c.781C>T (p.Leu261Phe)
|
rs150381599
|
0.00011
|
|
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His)
|
rs370262167
|
0.00011
|
|
NM_000359.3(TGM1):c.923G>A (p.Arg308Gln)
|
rs201328637
|
0.00011
|
|
NM_000360.4(TH):c.1383G>A (p.Pro461=)
|
rs552808212
|
0.00011
|
|
NM_000362.5(TIMP3):c.587G>A (p.Arg196Gln)
|
rs142288050
|
0.00011
|
|
NM_000372.5(TYR):c.1161T>C (p.Leu387=)
|
rs141967840
|
0.00011
|
|
NM_000383.4(AIRE):c.1394G>A (p.Arg465Gln)
|
rs139835427
|
0.00011
|
|
NM_000383.4(AIRE):c.354C>G (p.Val118=)
|
rs528667089
|
0.00011
|
|
NM_000383.4(AIRE):c.825G>C (p.Gln275His)
|
rs1027582142
|
0.00011
|
|
NM_000384.3(APOB):c.4111G>A (p.Ala1371Thr)
|
rs780170292
|
0.00011
|
|
NM_000384.3(APOB):c.5650A>G (p.Asn1884Asp)
|
rs146472818
|
0.00011
|
|
NM_000384.3(APOB):c.574G>A (p.Val192Ile)
|
rs200662943
|
0.00011
|
|
NM_000384.3(APOB):c.7759G>C (p.Val2587Leu)
|
rs375855688
|
0.00011
|
|
NM_000384.3(APOB):c.8855G>T (p.Gly2952Val)
|
rs369472561
|
0.00011
|
|
NM_000384.3(APOB):c.890G>A (p.Arg297His)
|
rs147223101
|
0.00011
|
|
NM_000391.4(TPP1):c.1653C>G (p.Pro551=)
|
rs372564255
|
0.00011
|
|
NM_000392.5(ABCC2):c.763C>T (p.Arg255Trp)
|
rs147494662
|
0.00011
|
|
NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly)
|
rs201828535
|
0.00011
|
|
NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys)
|
rs140604077
|
0.00011
|
|
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser)
|
rs143638361
|
0.00011
|
|
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser)
|
rs764148985
|
0.00011
|
|
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met)
|
rs148716935
|
0.00011
|
|
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met)
|
rs776616540
|
0.00011
|
|
NM_000458.4(HNF1B):c.420C>T (p.Val140=)
|
rs370134885
|
0.00011
|
|
NM_000466.3(PEX1):c.1587+5T>C
|
rs199526105
|
0.00011
|
|
NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp)
|
rs199989676
|
0.00011
|
|
NM_000466.3(PEX1):c.1815A>G (p.Lys605=)
|
rs112688556
|
0.00011
|
|
NM_000492.4(CFTR):c.2620-97C>T
|
rs146376436
|
0.00011
|
|
NM_000520.6(HEXA):c.548T>A (p.Leu183His)
|
rs185797496
|
0.00011
|
|
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)
|
rs140731590
|
0.00011
|
|
NM_000539.3(RHO):c.959C>A (p.Thr320Asn)
|
rs138831590
|
0.00011
|
|
NM_000540.3(RYR1):c.14196C>A (p.Ile4732=)
|
rs201670423
|
0.00011
|
|
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln)
|
rs200069592
|
0.00011
|
|
NM_000540.3(RYR1):c.6600G>A (p.Ala2200=)
|
rs375640581
|
0.00011
|
|
NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=)
|
rs202160739
|
0.00011
|
|
NM_000546.6(TP53):c.97-9C>T
|
rs202217267
|
0.00011
|
|
NM_000642.3(AGL):c.3231G>A (p.Lys1077=)
|
rs138063386
|
0.00011
|
|
NM_000817.3(GAD1):c.1120-8C>A
|
rs113638388
|
0.00011
|
|
NM_000843.4(GRM6):c.2398G>A (p.Val800Met)
|
rs369642678
|
0.00011
|
|
NM_001005498.4(RHBDF2):c.361C>T (p.Arg121Cys)
|
rs187556554
|
0.00011
|
|
NM_001017995.3(SH3PXD2B):c.1398C>T (p.Pro466=)
|
rs140209484
|
0.00011
|
|
NM_001031689.3(PLAA):c.298G>T (p.Asp100Tyr)
|
rs201814139
|
0.00011
|
|
NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val)
|
rs1394059438
|
0.00011
|
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
|
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)
|
rs139899756
|
0.00011
|
|
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)
|
rs755385132
|
0.00011
|
|
NM_001040716.2(PC):c.904-11C>T
|
rs200473405
|
0.00011
|
|
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)
|
rs377662483
|
0.00011
|
|
NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=)
|
rs143796254
|
0.00011
|
|
NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val)
|
rs201062001
|
0.00011
|
|
NM_001080414.4(CCDC88C):c.5112C>T (p.Ser1704=)
|
rs199730476
|
0.00011
|
|
NM_001080414.4(CCDC88C):c.5331G>C (p.Leu1777=)
|
rs759310053
|
0.00011
|
|
NM_001080449.3(DNA2):c.2618A>G (p.Tyr873Cys)
|
rs200309792
|
0.00011
|
|
NM_001080517.3(SETD5):c.1546G>A (p.Glu516Lys)
|
rs147867570
|
0.00011
|
|
NM_001114753.3(ENG):c.1135-8C>T
|
rs79426098
|
0.00011
|
|
NM_001126121.2(SLC25A19):c.565G>A (p.Ala189Thr)
|
rs144393784
|
0.00011
|
|
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=)
|
rs374616425
|
0.00011
|
|
NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His)
|
rs148124447
|
0.00011
|
|
NM_001128840.3(CACNA1D):c.6100C>T (p.Arg2034Trp)
|
rs142692903
|
0.00011
|
|
NM_001130823.3(DNMT1):c.3097C>T (p.Arg1033Trp)
|
rs144533539
|
0.00011
|
|
NM_001130987.2(DYSF):c.5884+6C>T
|
rs144355449
|
0.00011
|
|
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)
|
rs150029218
|
0.00011
|
|
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr)
|
rs397516622
|
0.00011
|
|
NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr)
|
rs76754818
|
0.00011
|
|
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp)
|
rs397516629
|
0.00011
|
|
NM_001160372.4(TRAPPC9):c.1194C>T (p.Ile398=)
|
rs587780484
|
0.00011
|
|
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp)
|
rs546869744
|
0.00011
|
|
NM_001164508.2(NEB):c.17518G>A (p.Ala5840Thr)
|
rs376277385
|
0.00011
|
|
NM_001164508.2(NEB):c.18860G>A (p.Arg6287His)
|
rs200195063
|
0.00011
|
|
NM_001164508.2(NEB):c.19865G>A (p.Ser6622Asn)
|
rs144168709
|
0.00011
|
|
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys)
|
rs527250558
|
0.00011
|
|
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu)
|
rs202137113
|
0.00011
|
|
NM_001164508.2(NEB):c.24757A>G (p.Ile8253Val)
|
rs551649582
|
0.00011
|
|
NM_001164508.2(NEB):c.2773A>G (p.Ser925Gly)
|
rs928041091
|
0.00011
|
|
NM_001166114.2(PNPLA6):c.2939G>C (p.Gly980Ala)
|
rs201902695
|
0.00011
|
|
NM_001166114.2(PNPLA6):c.4077C>T (p.Pro1359=)
|
rs143060121
|
0.00011
|
|
NM_001199397.3(NEK1):c.912T>C (p.Pro304=)
|
rs139433990
|
0.00011
|
|
NM_001277115.2(DNAH11):c.10569-15C>T
|
rs371205337
|
0.00011
|
|
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His)
|
rs373210484
|
0.00011
|
|
NM_001287.6(CLCN7):c.1137C>T (p.Ile379=)
|
rs749315456
|
0.00011
|
|
NM_001291303.3(FAT4):c.6050T>C (p.Val2017Ala)
|
rs188126059
|
0.00011
|
|
NM_001292063.2(OTOG):c.3178C>T (p.His1060Tyr)
|
rs187751015
|
0.00011
|
|
NM_001330078.2(NRXN1):c.3489C>T (p.Ala1163=)
|
rs147580960
|
0.00011
|
|
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile)
|
rs368124997
|
0.00011
|
|
NM_001352514.2(HLCS):c.951C>T (p.Ser317=)
|
rs185480832
|
0.00011
|
|
NM_001353214.3(DYM):c.1924T>C (p.Phe642Leu)
|
rs151034190
|
0.00011
|
|
NM_001358530.2(MOCS1):c.583+12T>C
|
rs199797027
|
0.00011
|
|
NM_001360.3(DHCR7):c.765C>T (p.Phe255=)
|
rs200132007
|
0.00011
|
|
NM_001363.5(DKC1):c.41A>G (p.Lys14Arg)
|
rs376632263
|
0.00011
|
|
NM_001365999.1(SZT2):c.5772G>T (p.Leu1924=)
|
rs187188981
|
0.00011
|
|
NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro)
|
rs529250336
|
0.00011
|
|
NM_001369.3(DNAH5):c.10084T>A (p.Phe3362Ile)
|
rs373406041
|
0.00011
|
|
NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys)
|
rs376292253
|
0.00011
|
|
NM_001369.3(DNAH5):c.11376C>T (p.Ala3792=)
|
rs755149967
|
0.00011
|
|
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys)
|
rs149609746
|
0.00011
|
|
NM_001369.3(DNAH5):c.5692G>A (p.Asp1898Asn)
|
rs149834171
|
0.00011
|
|
NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu)
|
rs201076024
|
0.00011
|
|
NM_001371928.1(AHDC1):c.2438G>A (p.Arg813His)
|
rs138299564
|
0.00011
|
|
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=)
|
rs142338762
|
0.00011
|
|
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=)
|
rs377529350
|
0.00011
|
|
NM_001377.3(DYNC2H1):c.6139+7C>T
|
rs200749262
|
0.00011
|
|
NM_001377265.1(MAPT):c.1567C>T (p.Arg523Ter)
|
rs200099007
|
0.00011
|
|
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val)
|
rs199698357
|
0.00011
|
|
NM_001378609.3(OTOGL):c.100A>G (p.Ile34Val)
|
rs117411391
|
0.00011
|
|
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met)
|
rs201617511
|
0.00011
|
|
NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln)
|
rs546381069
|
0.00011
|
|
NM_001395413.1(POR):c.1755C>T (p.Asp585=)
|
rs72557949
|
0.00011
|
|
NM_001457.4(FLNB):c.2071C>T (p.Arg691Cys)
|
rs776421446
|
0.00011
|
|
NM_001457.4(FLNB):c.2104G>A (p.Gly702Ser)
|
rs374090457
|
0.00011
|
|
NM_001457.4(FLNB):c.3753T>C (p.Phe1251=)
|
rs751650356
|
0.00011
|
|
NM_001457.4(FLNB):c.762G>A (p.Pro254=)
|
rs371715057
|
0.00011
|
|
NM_001458.5(FLNC):c.3853G>A (p.Gly1285Ser)
|
rs200928780
|
0.00011
|
|
NM_001609.4(ACADSB):c.960A>T (p.Ile320=)
|
rs147531541
|
0.00011
|
|
NM_001853.4(COL9A3):c.245C>T (p.Pro82Leu)
|
rs199653123
|
0.00011
|
|
NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser)
|
rs201849355
|
0.00011
|
|
NM_001953.5(TYMP):c.437G>A (p.Arg146His)
|
rs188802138
|
0.00011
|
|
NM_001987.5(ETV6):c.741G>A (p.Ala247=)
|
rs571926464
|
0.00011
|
|
NM_002076.4(GNS):c.577C>T (p.Arg193Trp)
|
rs144220755
|
0.00011
|
|
NM_002253.4(KDR):c.2012G>A (p.Gly671Glu)
|
rs149740758
|
0.00011
|
|
NM_002435.3(MPI):c.378G>A (p.Pro126=)
|
rs752948071
|
0.00011
|
|
NM_002473.6(MYH9):c.4247C>T (p.Thr1416Met)
|
rs758626716
|
0.00011
|
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
|
NM_002485.5(NBN):c.37+10G>C
|
rs369408590
|
0.00011
|
|
NM_002528.7(NTHL1):c.526-11_526-10del
|
rs764393572
|
0.00011
|
|
NM_002529.4(NTRK1):c.279G>A (p.Leu93=)
|
rs147983523
|
0.00011
|
|
NM_002617.4(PEX10):c.268C>T (p.Leu90=)
|
rs775772867
|
0.00011
|
|
NM_002617.4(PEX10):c.915G>A (p.Ala305=)
|
rs374891812
|
0.00011
|
|
NM_002633.3(PGM1):c.1028+11C>A
|
rs541069522
|
0.00011
|
|
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr)
|
rs544709718
|
0.00011
|
|
NM_003060.4(SLC22A5):c.952-14T>C
|
rs373018486
|
0.00011
|
|
NM_003119.4(SPG7):c.2274C>T (p.Ile758=)
|
rs147302322
|
0.00011
|
|
NM_003480.4(MFAP5):c.296G>A (p.Arg99Gln)
|
rs756494536
|
0.00011
|
|
NM_003482.4(KMT2D):c.5084-17A>G
|
rs368795536
|
0.00011
|
|
NM_003640.5(ELP1):c.1704A>G (p.Ser568=)
|
rs138192941
|
0.00011
|
|
NM_003721.4(RFXANK):c.529C>G (p.Leu177Val)
|
rs151053440
|
0.00011
|
|
NM_003738.5(PTCH2):c.3071C>T (p.Ala1024Val)
|
rs147567317
|
0.00011
|
|
NM_003742.4(ABCB11):c.235G>A (p.Val79Met)
|
rs371965391
|
0.00011
|
|
NM_003742.4(ABCB11):c.3411+9C>T
|
rs201287126
|
0.00011
|
|
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys)
|
rs11568437
|
0.00011
|
|
NM_003982.4(SLC7A7):c.549A>C (p.Val183=)
|
rs146945921
|
0.00011
|
|
NM_004187.5(KDM5C):c.4611G>A (p.Ser1537=)
|
rs149733911
|
0.00011
|
|
NM_004273.5(CHST3):c.423G>A (p.Thr141=)
|
rs376107245
|
0.00011
|
|
NM_004320.6(ATP2A1):c.1207C>T (p.Arg403Trp)
|
rs117350233
|
0.00011
|
|
NM_004360.5(CDH1):c.*8G>A
|
rs201223411
|
0.00011
|
|
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
|
rs138135866
|
0.00011
|
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
|
NM_004370.6(COL12A1):c.292G>A (p.Asp98Asn)
|
rs558571598
|
0.00011
|
|
NM_004415.4(DSP):c.1483G>A (p.Val495Met)
|
rs372014020
|
0.00011
|
|
NM_004525.3(LRP2):c.8169C>T (p.Asn2723=)
|
rs200369596
|
0.00011
|
|
NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val)
|
rs755222875
|
0.00011
|
|
NM_004560.4(ROR2):c.1930G>A (p.Asp644Asn)
|
rs55798732
|
0.00011
|
|
NM_004562.3(PRKN):c.1372A>C (p.Met458Leu)
|
rs182893847
|
0.00011
|
|
NM_004621.6(TRPC6):c.2770C>T (p.Pro924Ser)
|
rs139330011
|
0.00011
|
|
NM_004625.4(WNT7A):c.470G>A (p.Arg157His)
|
rs199592697
|
0.00011
|
|
NM_004646.4(NPHS1):c.1486C>A (p.Arg496Ser)
|
rs373264146
|
0.00011
|
|
NM_004817.4(TJP2):c.1506T>C (p.Asp502=)
|
rs139354927
|
0.00011
|
|
NM_004817.4(TJP2):c.2270C>T (p.Thr757Ile)
|
rs189443180
|
0.00011
|
|
NM_004839.4(HOMER2):c.89A>G (p.Gln30Arg)
|
rs189123186
|
0.00011
|
|
NM_005045.4(RELN):c.1336G>C (p.Glu446Gln)
|
rs56146903
|
0.00011
|
|
NM_005045.4(RELN):c.6193G>A (p.Val2065Ile)
|
rs201627577
|
0.00011
|
|
NM_005142.3(CBLIF):c.256+10C>T
|
rs369960390
|
0.00011
|
|
NM_005360.5(MAF):c.460G>A (p.Gly154Ser)
|
rs1022938471
|
0.00011
|
|
NM_005422.4(TECTA):c.4824C>T (p.Ile1608=)
|
rs747713348
|
0.00011
|
|
NM_005422.4(TECTA):c.915C>T (p.Cys305=)
|
rs367974065
|
0.00011
|
|
NM_005477.3(HCN4):c.2522C>T (p.Ser841Leu)
|
rs200546024
|
0.00011
|
|
NM_005529.7(HSPG2):c.2766C>G (p.Leu922=)
|
rs375290305
|
0.00011
|
|
NM_005529.7(HSPG2):c.5628A>G (p.Thr1876=)
|
rs368047383
|
0.00011
|
|
NM_005535.3(IL12RB1):c.1190-13C>T
|
rs371881148
|
0.00011
|
|
NM_005535.3(IL12RB1):c.1269C>T (p.His423=)
|
rs367647802
|
0.00011
|
|
NM_005912.3(MC4R):c.972C>T (p.Gly324=)
|
rs150448918
|
0.00011
|
|
NM_005993.5(TBCD):c.1254G>A (p.Gly418=)
|
rs367985432
|
0.00011
|
|
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys)
|
rs202221024
|
0.00011
|
|
NM_006031.6(PCNT):c.8930C>T (p.Ala2977Val)
|
rs146657011
|
0.00011
|
|
NM_006231.4(POLE):c.3763T>C (p.Leu1255=)
|
rs745838504
|
0.00011
|
|
NM_006231.4(POLE):c.4169G>A (p.Arg1390His)
|
rs200776293
|
0.00011
|
|
NM_006231.4(POLE):c.6658-7C>A
|
rs531482240
|
0.00011
|
|
NM_006231.4(POLE):c.940T>G (p.Ser314Ala)
|
rs770403791
|
0.00011
|
|
NM_006254.4(PRKCD):c.1260+7G>A
|
rs374605708
|
0.00011
|
|
NM_006397.3(RNASEH2A):c.199+8C>G
|
rs200834484
|
0.00011
|
|
NM_006397.3(RNASEH2A):c.36C>T (p.Gly12=)
|
rs375139492
|
0.00011
|
|
NM_006445.4(PRPF8):c.2235C>G (p.Ala745=)
|
rs727504109
|
0.00011
|
|
NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg)
|
rs748755187
|
0.00011
|
|
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His)
|
rs145522851
|
0.00011
|
|
NM_007317.3(KIF22):c.549+8C>A
|
rs374331057
|
0.00011
|
|
NM_012092.4(ICOS):c.597A>G (p.Leu199=)
|
rs145698501
|
0.00011
|
|
NM_012213.3(MLYCD):c.1335C>T (p.Thr445=)
|
rs373675093
|
0.00011
|
|
NM_012213.3(MLYCD):c.741G>T (p.Gly247=)
|
rs376948469
|
0.00011
|
|
NM_012293.3(PXDN):c.1495C>G (p.Gln499Glu)
|
rs185623598
|
0.00011
|
|
NM_013275.6(ANKRD11):c.3274C>T (p.Pro1092Ser)
|
rs773172347
|
0.00011
|
|
NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=)
|
rs150535792
|
0.00011
|
|
NM_014252.4(SLC25A15):c.216C>T (p.Ile72=)
|
rs572717478
|
0.00011
|
|
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)
|
rs372359781
|
0.00011
|
|
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu)
|
rs201857647
|
0.00011
|
|
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val)
|
rs201866523
|
0.00011
|
|
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys)
|
rs201798841
|
0.00011
|
|
NM_014714.4(IFT140):c.2724C>T (p.Ala908=)
|
rs138166567
|
0.00011
|
|
NM_014844.5(TECPR2):c.3790-8G>A
|
rs772801372
|
0.00011
|
|
NM_014844.5(TECPR2):c.4161G>A (p.Ser1387=)
|
rs150885756
|
0.00011
|
|
NM_014844.5(TECPR2):c.846C>T (p.Cys282=)
|
rs201691545
|
0.00011
|
|
NM_015404.4(WHRN):c.2112G>T (p.Leu704=)
|
rs535492772
|
0.00011
|
|
NM_015404.4(WHRN):c.998G>A (p.Ser333Asn)
|
rs200073414
|
0.00011
|
|
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=)
|
rs202024857
|
0.00011
|
|
NM_015474.4(SAMHD1):c.697-11A>G
|
rs200458478
|
0.00011
|
|
NM_016123.4(IRAK4):c.13A>G (p.Ile5Val)
|
rs56312115
|
0.00011
|
|
NM_016239.4(MYO15A):c.6581G>A (p.Arg2194Gln)
|
rs375638438
|
0.00011
|
|
NM_017534.6(MYH2):c.3615T>C (p.Ser1205=)
|
rs751186949
|
0.00011
|
|
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
|
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys)
|
rs35464956
|
0.00011
|
|
NM_017882.3(CLN6):c.585C>T (p.Gly195=)
|
rs144507672
|
0.00011
|
|
NM_018136.5(ASPM):c.1185A>G (p.Gln395=)
|
rs183395856
|
0.00011
|
|
NM_018136.5(ASPM):c.5846A>G (p.His1949Arg)
|
rs186663906
|
0.00011
|
|
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe)
|
rs199602365
|
0.00011
|
|
NM_018714.3(COG1):c.2511-5C>G
|
rs201123101
|
0.00011
|
|
NM_018714.3(COG1):c.315+8C>T
|
rs748732950
|
0.00011
|
|
NM_019096.5(GTPBP2):c.881-18G>A
|
rs377499258
|
0.00011
|
|
NM_020247.5(COQ8A):c.1698G>A (p.Leu566=)
|
rs543820987
|
0.00011
|
|
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys)
|
rs147844153
|
0.00011
|
|
NM_020376.4(PNPLA2):c.597C>T (p.Ser199=)
|
rs552415591
|
0.00011
|
|
NM_020458.4(TTC7A):c.1070C>G (p.Thr357Ser)
|
rs200443615
|
0.00011
|
|
NM_020533.3(MCOLN1):c.1021G>A (p.Val341Ile)
|
rs771026953
|
0.00011
|
|
NM_020533.3(MCOLN1):c.177G>A (p.Lys59=)
|
rs146187044
|
0.00011
|
|
NM_020533.3(MCOLN1):c.24C>T (p.Arg8=)
|
rs886527724
|
0.00011
|
|
NM_020549.5(CHAT):c.1124G>A (p.Arg375Gln)
|
rs201616704
|
0.00011
|
|
NM_020778.5(ALPK3):c.183-5C>T
|
rs758923137
|
0.00011
|
|
NM_021076.4(NEFH):c.883+7A>G
|
rs776050286
|
0.00011
|
|
NM_021098.3(CACNA1H):c.5809G>A (p.Val1937Met)
|
rs60040113
|
0.00011
|
|
NM_021830.5(TWNK):c.169G>A (p.Ala57Thr)
|
rs373068264
|
0.00011
|
|
NM_022041.4(GAN):c.1323T>C (p.Tyr441=)
|
rs368072478
|
0.00011
|
|
NM_022047.4(DEF6):c.604C>G (p.Leu202Val)
|
rs377311393
|
0.00011
|
|
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala)
|
rs150057646
|
0.00011
|
|
NM_022124.6(CDH23):c.1450-4G>A
|
rs374549358
|
0.00011
|
|
NM_022124.6(CDH23):c.7394G>A (p.Arg2465Gln)
|
rs199903227
|
0.00011
|
|
NM_022369.4(STRA6):c.1242C>T (p.Arg414=)
|
rs568924861
|
0.00011
|
|
NM_022437.3(ABCG8):c.1647C>T (p.Ala549=)
|
rs369736263
|
0.00011
|
|
NM_022437.3(ABCG8):c.546C>T (p.Ala182=)
|
rs774395087
|
0.00011
|
|
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu)
|
rs140583358
|
0.00011
|
|
NM_022489.4(INF2):c.2239+16C>T
|
rs370364755
|
0.00011
|
|
NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr)
|
rs149692072
|
0.00011
|
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
|
NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr)
|
rs767696555
|
0.00011
|
|
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys)
|
rs191462023
|
0.00011
|
|
NM_025193.4(HSD3B7):c.7G>A (p.Asp3Asn)
|
rs200555135
|
0.00011
|
|
NM_025216.3(WNT10A):c.347T>C (p.Ile116Thr)
|
rs762311530
|
0.00011
|
|
NM_030665.4(RAI1):c.3678G>A (p.Ser1226=)
|
rs144290584
|
0.00011
|
|
NM_030928.4(CDT1):c.1357C>T (p.Arg453Trp)
|
rs200672589
|
0.00011
|
|
NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=)
|
rs373354231
|
0.00011
|
|
NM_032119.4(ADGRV1):c.12697A>C (p.Ser4233Arg)
|
rs770802961
|
0.00011
|
|
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys)
|
rs200644004
|
0.00011
|
|
NM_032119.4(ADGRV1):c.12818A>G (p.His4273Arg)
|
rs201480340
|
0.00011
|
|
NM_032119.4(ADGRV1):c.12919G>A (p.Gly4307Arg)
|
rs190628299
|
0.00011
|
|
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His)
|
rs375122809
|
0.00011
|
|
NM_032119.4(ADGRV1):c.15334C>T (p.Arg5112Cys)
|
rs372400654
|
0.00011
|
|
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp)
|
rs200389929
|
0.00011
|
|
NM_032119.4(ADGRV1):c.4429A>G (p.Thr1477Ala)
|
rs202097968
|
0.00011
|
|
NM_032119.4(ADGRV1):c.4472C>T (p.Thr1491Met)
|
rs138373307
|
0.00011
|
|
NM_032119.4(ADGRV1):c.5260A>G (p.Thr1754Ala)
|
rs201186767
|
0.00011
|
|
NM_032119.4(ADGRV1):c.5892T>C (p.Asn1964=)
|
rs201983595
|
0.00011
|
|
NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=)
|
rs200241260
|
0.00011
|
|
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala)
|
rs111033517
|
0.00011
|
|
NM_032119.4(ADGRV1):c.9631T>C (p.Ser3211Pro)
|
rs766184763
|
0.00011
|
|
NM_032122.5(DTNBP1):c.811+15C>G
|
rs146113366
|
0.00011
|
|
NM_052859.4(RFT1):c.978T>C (p.Ala326=)
|
rs372101755
|
0.00011
|
|
NM_052867.4(NALCN):c.1280T>C (p.Val427Ala)
|
rs371662809
|
0.00011
|
|
NM_052867.4(NALCN):c.2266G>A (p.Val756Met)
|
rs149203278
|
0.00011
|
|
NM_080424.4(SP110):c.898+14A>G
|
rs200753717
|
0.00011
|
|
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe)
|
rs188490457
|
0.00011
|
|
NM_080680.3(COL11A2):c.4149A>G (p.Thr1383=)
|
rs746019545
|
0.00011
|
|
NM_133642.5(LARGE1):c.2073+11C>T
|
rs774384587
|
0.00011
|
|
NM_138387.4(G6PC3):c.687C>T (p.Ser229=)
|
rs377343204
|
0.00011
|
|
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His)
|
rs371329493
|
0.00011
|
|
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=)
|
rs199635188
|
0.00011
|
|
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr)
|
rs138242579
|
0.00011
|
|
NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=)
|
rs199559837
|
0.00011
|
|
NM_152383.5(DIS3L2):c.1203C>T (p.Asp401=)
|
rs370165461
|
0.00011
|
|
NM_152383.5(DIS3L2):c.1599C>T (p.His533=)
|
rs760229466
|
0.00011
|
|
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met)
|
rs191174682
|
0.00011
|
|
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr)
|
rs143566455
|
0.00011
|
|
NM_152564.5(VPS13B):c.7668C>T (p.Ser2556=)
|
rs370903187
|
0.00011
|
|
NM_152594.3(SPRED1):c.963G>A (p.Lys321=)
|
rs369711772
|
0.00011
|
|
NM_152703.5(SAMD9L):c.208C>T (p.Arg70Cys)
|
rs372301151
|
0.00011
|
|
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile)
|
rs146408017
|
0.00011
|
|
NM_153033.5(KCTD7):c.621C>A (p.Leu207=)
|
rs376944331
|
0.00011
|
|
NM_170606.3(KMT2C):c.6530A>G (p.Gln2177Arg)
|
rs201637035
|
0.00011
|
|
NM_172364.5(CACNA2D4):c.1807-4del
|
rs756122685
|
0.00011
|
|
NM_173076.3(ABCA12):c.2744C>T (p.Ser915Phe)
|
rs139223000
|
0.00011
|
|
NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys)
|
rs114929884
|
0.00011
|
|
NM_175053.4(KRT74):c.143G>A (p.Arg48Gln)
|
rs759304994
|
0.00011
|
|
NM_177438.3(DICER1):c.4804G>A (p.Ala1602Thr)
|
rs145669719
|
0.00011
|
|
NM_177438.3(DICER1):c.4870G>C (p.Ala1624Pro)
|
rs372967646
|
0.00011
|
|
NM_177924.5(ASAH1):c.219A>G (p.Leu73=)
|
rs141785977
|
0.00011
|
|
NM_178857.6(RP1L1):c.212G>A (p.Arg71His)
|
rs200996822
|
0.00011
|
|
NM_182914.3(SYNE2):c.5689G>A (p.Val1897Ile)
|
rs773841153
|
0.00011
|
|
NM_194248.3(OTOF):c.377G>A (p.Gly126Asp)
|
rs187033414
|
0.00011
|
|
NM_194248.3(OTOF):c.4951G>A (p.Asp1651Asn)
|
rs139201321
|
0.00011
|
|
NM_198239.2(CCN6):c.131G>A (p.Arg44His)
|
rs782703789
|
0.00011
|
|
NM_198525.3(KIF7):c.1390A>G (p.Ile464Val)
|
rs570856269
|
0.00011
|
|
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg)
|
rs200595273
|
0.00011
|
|
NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala)
|
rs757868774
|
0.00011
|
|
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)
|
rs114052315
|
0.00011
|
|
NM_205850.3(SLC24A5):c.922T>G (p.Trp308Gly)
|
rs192454382
|
0.00011
|
|
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=)
|
rs372015149
|
0.00011
|
|
NM_206933.4(USH2A):c.4646G>A (p.Arg1549Gln)
|
rs190170807
|
0.00011
|
|
NM_213655.5(WNK1):c.2533C>T (p.Arg845Cys)
|
rs200794710
|
0.00011
|
|
NM_213655.5(WNK1):c.2605C>A (p.Leu869Ile)
|
rs377073379
|
0.00011
|
|
NM_000016.6(ACADM):c.210T>G (p.Thr70=)
|
rs778891510
|
0.00010
|
|
NM_000018.4(ACADVL):c.62+9G>A
|
rs369512281
|
0.00010
|
|
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)
|
rs753816946
|
0.00010
|
|
NM_000023.4(SGCA):c.320C>T (p.Ala107Val)
|
rs186669379
|
0.00010
|
|
NM_000027.4(AGA):c.109A>G (p.Lys37Glu)
|
rs766776902
|
0.00010
|
|
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr)
|
rs753156183
|
0.00010
|
|
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser)
|
rs376472029
|
0.00010
|
|
NM_000037.4(ANK1):c.2389-10C>T
|
rs764935260
|
0.00010
|
|
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)
|
rs199931771
|
0.00010
|
|
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)
|
rs377648506
|
0.00010
|
|
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)
|
rs189925962
|
0.00010
|
|
NM_000069.3(CACNA1S):c.1325T>C (p.Val442Ala)
|
rs202217590
|
0.00010
|
|
NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met)
|
rs200334886
|
0.00010
|
|
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His)
|
rs747618077
|
0.00010
|
|
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr)
|
rs200434921
|
0.00010
|
|
NM_000070.3(CAPN3):c.945+15G>A
|
rs567256305
|
0.00010
|
|
NM_000071.3(CBS):c.1146-12C>T
|
rs199550738
|
0.00010
|
|
NM_000071.3(CBS):c.894G>A (p.Gln298=)
|
rs370514077
|
0.00010
|
|
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu)
|
rs148370803
|
0.00010
|
|
NM_000081.4(LYST):c.10221C>T (p.Tyr3407=)
|
rs146457386
|
0.00010
|
|
NM_000081.4(LYST):c.196T>C (p.Leu66=)
|
rs138393416
|
0.00010
|
|
NM_000081.4(LYST):c.2826A>G (p.Pro942=)
|
rs149558986
|
0.00010
|
|
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr)
|
rs200801946
|
0.00010
|
|
NM_000094.4(COL7A1):c.2392G>A (p.Gly798Arg)
|
rs202237834
|
0.00010
|
|
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp)
|
rs147285396
|
0.00010
|
|
NM_000096.4(CP):c.929G>A (p.Arg310His)
|
rs202217551
|
0.00010
|
|
NM_000130.5(F5):c.2037C>G (p.Phe679Leu)
|
rs374118662
|
0.00010
|
|
NM_000130.5(F5):c.5923G>C (p.Gly1975Arg)
|
rs146312772
|
0.00010
|
|
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile)
|
rs747322973
|
0.00010
|
|
NM_000137.4(FAH):c.648C>A (p.Ile216=)
|
rs147016995
|
0.00010
|
|
NM_000147.5(FUCA1):c.825A>T (p.Gly275=)
|
rs199675692
|
0.00010
|
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
|
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)
|
rs377402848
|
0.00010
|
|
NM_000152.5(GAA):c.610G>A (p.Ala204Thr)
|
rs780799275
|
0.00010
|
|
NM_000163.5(GHR):c.195A>G (p.Ser65=)
|
rs140501920
|
0.00010
|
|
NM_000163.5(GHR):c.585A>G (p.Gln195=)
|
rs6413483
|
0.00010
|
|
NM_000199.5(SGSH):c.250-15C>T
|
rs369082713
|
0.00010
|
|
NM_000203.5(IDUA):c.1402+8G>A
|
rs1315308939
|
0.00010
|
|
NM_000208.4(INSR):c.1665T>C (p.Ser555=)
|
rs149795690
|
0.00010
|
|
NM_000246.4(CIITA):c.1545C>T (p.Cys515=)
|
rs200146904
|
0.00010
|
|
NM_000260.4(MYO7A):c.2680G>A (p.Glu894Lys)
|
rs372366760
|
0.00010
|
|
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr)
|
rs41298131
|
0.00010
|
|
NM_000260.4(MYO7A):c.5356T>A (p.Ser1786Thr)
|
rs374576916
|
0.00010
|
|
NM_000262.3(NAGA):c.618G>A (p.Ala206=)
|
rs200770245
|
0.00010
|
|
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser)
|
rs370354759
|
0.00010
|
|
NM_000271.5(NPC1):c.962C>T (p.Ala321Val)
|
rs138079168
|
0.00010
|
|
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser)
|
rs149293297
|
0.00010
|
|
NM_000293.3(PHKB):c.714G>A (p.Ser238=)
|
rs772326970
|
0.00010
|
|
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)
|
rs368980118
|
0.00010
|
|
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=)
|
rs570745701
|
0.00010
|
|
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)
|
rs367974472
|
0.00010
|
|
NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=)
|
rs146584228
|
0.00010
|
|
NM_000355.4(TCN2):c.921A>C (p.Pro307=)
|
rs138738105
|
0.00010
|
|
NM_000360.4(TH):c.126C>A (p.Ile42=)
|
rs755664117
|
0.00010
|
|
NM_000360.4(TH):c.1389G>A (p.Thr463=)
|
rs370029424
|
0.00010
|
|
NM_000384.3(APOB):c.2123A>G (p.Gln708Arg)
|
rs371190827
|
0.00010
|
|
NM_000384.3(APOB):c.400G>T (p.Ala134Ser)
|
rs368321279
|
0.00010
|
|
NM_000384.3(APOB):c.5137G>T (p.Ala1713Ser)
|
rs769789232
|
0.00010
|
|
NM_000392.5(ABCC2):c.1457C>T (p.Thr486Ile)
|
rs17222589
|
0.00010
|
|
NM_000426.4(LAMA2):c.1391C>T (p.Pro464Leu)
|
rs150394215
|
0.00010
|
|
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu)
|
rs151049890
|
0.00010
|
|
NM_000439.5(PCSK1):c.709+11G>A
|
rs199951150
|
0.00010
|
|
NM_000440.3(PDE6A):c.2249G>A (p.Arg750His)
|
rs146145709
|
0.00010
|
|
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met)
|
rs150597240
|
0.00010
|
|
NM_000447.3(PSEN2):c.300C>T (p.Ile100=)
|
rs200801915
|
0.00010
|
|
NM_000452.3(SLC10A2):c.654C>T (p.Ser218=)
|
rs140050923
|
0.00010
|
|
NM_000465.4(BARD1):c.1568+15G>T
|
rs145936354
|
0.00010
|
|
NM_000481.4(AMT):c.1062C>A (p.Pro354=)
|
rs377227163
|
0.00010
|
|
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)
|
rs74315466
|
0.00010
|
|
NM_000514.4(GDNF):c.138G>A (p.Ala46=)
|
rs375385439
|
0.00010
|
|
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser)
|
rs151078515
|
0.00010
|
|
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)
|
rs138593495
|
0.00010
|
|
NM_000540.3(RYR1):c.11691T>C (p.Asp3897=)
|
rs201588544
|
0.00010
|
|
NM_000540.3(RYR1):c.14670G>C (p.Val4890=)
|
rs773080803
|
0.00010
|
|
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn)
|
rs141298868
|
0.00010
|
|
NM_000553.6(WRN):c.4127C>T (p.Pro1376Leu)
|
rs146055899
|
0.00010
|
|
NM_000553.6(WRN):c.514A>C (p.Thr172Pro)
|
rs367991517
|
0.00010
|
|
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)
|
rs775471043
|
0.00010
|
|
NM_000717.5(CA4):c.923C>A (p.Ala308Asp)
|
rs201580764
|
0.00010
|
|
NM_000745.4(CHRNA5):c.713C>T (p.Pro238Leu)
|
rs61742337
|
0.00010
|
|
NM_000787.4(DBH):c.1094T>C (p.Met365Thr)
|
rs200103371
|
0.00010
|
|
NM_000821.7(GGCX):c.539+10del
|
rs774014206
|
0.00010
|
|
NM_000883.4(IMPDH1):c.1551C>T (p.Ser517=)
|
rs148875137
|
0.00010
|
|
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser)
|
rs201944276
|
0.00010
|
|
NM_001029883.3(PCARE):c.2191G>A (p.Val731Ile)
|
rs201790782
|
0.00010
|
|
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val)
|
rs373261115
|
0.00010
|
|
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=)
|
rs371934582
|
0.00010
|
|
NM_001035.3(RYR2):c.9067+10C>T
|
rs372631657
|
0.00010
|
|
NM_001040716.2(PC):c.2224-14C>T
|
rs780315450
|
0.00010
|
|
NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=)
|
rs104895265
|
0.00010
|
|
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala)
|
rs373320785
|
0.00010
|
|
NM_001080517.3(SETD5):c.2426A>G (p.Tyr809Cys)
|
rs1270531724
|
0.00010
|
|
NM_001113378.2(FANCI):c.2890-13C>T
|
rs377269890
|
0.00010
|
|
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys)
|
rs372045549
|
0.00010
|
|
NM_001127671.2(LIFR):c.2280G>A (p.Leu760=)
|
rs370455274
|
0.00010
|
|
NM_001128840.3(CACNA1D):c.5165G>C (p.Ser1722Thr)
|
rs759409255
|
0.00010
|
|
NM_001128840.3(CACNA1D):c.5473C>T (p.Arg1825Trp)
|
rs144688228
|
0.00010
|
|
NM_001128840.3(CACNA1D):c.6101G>A (p.Arg2034Gln)
|
rs771758707
|
0.00010
|
|
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)
|
rs199955501
|
0.00010
|
|
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val)
|
rs397516608
|
0.00010
|
|
NM_001142864.4(PIEZO1):c.6315C>G (p.Leu2105=)
|
rs564995953
|
0.00010
|
|
NM_001142864.4(PIEZO1):c.7558A>G (p.Lys2520Glu)
|
rs570744198
|
0.00010
|
|
NM_001145809.2(MYH14):c.1918C>T (p.Arg640Trp)
|
rs376267080
|
0.00010
|
|
NM_001164508.2(NEB):c.1182A>C (p.Thr394=)
|
rs186233985
|
0.00010
|
|
NM_001164508.2(NEB):c.18224A>C (p.His6075Pro)
|
rs768813228
|
0.00010
|
|
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys)
|
rs374606967
|
0.00010
|
|
NM_001164508.2(NEB):c.19751T>G (p.Met6584Arg)
|
rs190605644
|
0.00010
|
|
NM_001164508.2(NEB):c.21525C>T (p.Ile7175=)
|
rs369183371
|
0.00010
|
|
NM_001164508.2(NEB):c.25564G>A (p.Val8522Ile)
|
rs117861109
|
0.00010
|
|
NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile)
|
rs199662534
|
0.00010
|
|
NM_001164508.2(NEB):c.4938C>T (p.Asn1646=)
|
rs765208384
|
0.00010
|
|
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr)
|
rs751494785
|
0.00010
|
|
NM_001164508.2(NEB):c.6369G>A (p.Thr2123=)
|
rs540542570
|
0.00010
|
|
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His)
|
rs373589529
|
0.00010
|
|
NM_001164508.2(NEB):c.8019C>T (p.Leu2673=)
|
rs755883171
|
0.00010
|
|
NM_001199397.3(NEK1):c.642G>A (p.Lys214=)
|
rs369725706
|
0.00010
|
|
NM_001243279.3(ACSF3):c.1127-5T>C
|
rs200245960
|
0.00010
|
|
NM_001277115.2(DNAH11):c.2500G>A (p.Val834Met)
|
rs368578923
|
0.00010
|
|
NM_001291303.3(FAT4):c.12778G>A (p.Val4260Ile)
|
rs369024765
|
0.00010
|
|
NM_001291303.3(FAT4):c.9597T>A (p.Asp3199Glu)
|
rs568003396
|
0.00010
|
|
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=)
|
rs201886024
|
0.00010
|
|
NM_001355436.2(SPTB):c.4973+4C>T
|
rs758611621
|
0.00010
|
|
NM_001356.5(DDX3X):c.426A>C (p.Pro142=)
|
rs779721240
|
0.00010
|
|
NM_001364905.1(LRBA):c.6046+7G>T
|
rs376126419
|
0.00010
|
|
NM_001369.3(DNAH5):c.12272T>C (p.Met4091Thr)
|
rs142570731
|
0.00010
|
|
NM_001369.3(DNAH5):c.20G>A (p.Arg7Lys)
|
rs139728564
|
0.00010
|
|
NM_001369.3(DNAH5):c.4689C>T (p.Gly1563=)
|
rs375658702
|
0.00010
|
|
NM_001369.3(DNAH5):c.9626A>G (p.Lys3209Arg)
|
rs201473584
|
0.00010
|
|
NM_001369268.1(ACAN):c.894C>T (p.Ser298=)
|
rs576947078
|
0.00010
|
|
NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu)
|
rs104895489
|
0.00010
|
|
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=)
|
rs149902566
|
0.00010
|
|
NM_001378414.1(HDAC4):c.2346C>T (p.Cys782=)
|
rs144099208
|
0.00010
|
|
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=)
|
rs367862140
|
0.00010
|
|
NM_001378454.1(ALMS1):c.9600A>C (p.Ala3200=)
|
rs113808259
|
0.00010
|
|
NM_001382347.1(MYO5A):c.1476T>C (p.Asn492=)
|
rs765320441
|
0.00010
|
|
NM_001384732.1(CPLANE1):c.5593A>C (p.Asn1865His)
|
rs199524299
|
0.00010
|
|
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=)
|
rs564606657
|
0.00010
|
|
NM_001395413.1(POR):c.1191G>A (p.Ser397=)
|
rs372401863
|
0.00010
|
|
NM_001395413.1(POR):c.1578G>A (p.Thr526=)
|
rs371795413
|
0.00010
|
|
NM_001414.4(EIF2B1):c.735C>T (p.Asp245=)
|
rs776489281
|
0.00010
|
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00010
|
|
NM_001613.4(ACTA2):c.201G>C (p.Leu67=)
|
rs199773697
|
0.00010
|
|
NM_001851.6(COL9A1):c.462A>G (p.Val154=)
|
rs150571620
|
0.00010
|
|
NM_001853.4(COL9A3):c.1339G>A (p.Asp447Asn)
|
rs200153638
|
0.00010
|
|
NM_001875.5(CPS1):c.2696T>C (p.Met899Thr)
|
rs201340295
|
0.00010
|
|
NM_001875.5(CPS1):c.3796T>C (p.Phe1266Leu)
|
rs373841124
|
0.00010
|
|
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln)
|
rs757593086
|
0.00010
|
|
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile)
|
rs199761749
|
0.00010
|
|
NM_001966.4(EHHADH):c.1063G>A (p.Gly355Ser)
|
rs150744159
|
0.00010
|
|
NM_002335.4(LRP5):c.4643G>T (p.Cys1548Phe)
|
rs147618989
|
0.00010
|
|
NM_002473.6(MYH9):c.1149C>T (p.Thr383=)
|
rs143974891
|
0.00010
|
|
NM_002473.6(MYH9):c.2679C>A (p.Thr893=)
|
rs145476120
|
0.00010
|
|
NM_002474.3(MYH11):c.4809G>A (p.Thr1603=)
|
rs140577744
|
0.00010
|
|
NM_002529.4(NTRK1):c.711G>A (p.Thr237=)
|
rs537430475
|
0.00010
|
|
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg)
|
rs200407907
|
0.00010
|
|
NM_002768.5(CHMP1A):c.147C>T (p.Ala49=)
|
rs200606123
|
0.00010
|
|
NM_002880.4(RAF1):c.935T>C (p.Val312Ala)
|
rs370243307
|
0.00010
|
|
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)
|
rs768385200
|
0.00010
|
|
NM_003331.5(TYK2):c.1806C>T (p.Asn602=)
|
rs765576893
|
0.00010
|
|
NM_003384.3(VRK1):c.161-14A>G
|
rs375176918
|
0.00010
|
|
NM_003392.7(WNT5A):c.427G>A (p.Ala143Thr)
|
rs998033323
|
0.00010
|
|
NM_003482.4(KMT2D):c.7109G>A (p.Arg2370His)
|
rs373234419
|
0.00010
|
|
NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=)
|
rs200599704
|
0.00010
|
|
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=)
|
rs199599147
|
0.00010
|
|
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln)
|
rs200488448
|
0.00010
|
|
NM_004239.4(TRIP11):c.1186+14G>A
|
rs371492052
|
0.00010
|
|
NM_004287.5(GOSR2):c.246T>C (p.Thr82=)
|
rs141380070
|
0.00010
|
|
NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr)
|
rs142719863
|
0.00010
|
|
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)
|
rs751361395
|
0.00010
|
|
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)
|
rs144641271
|
0.00010
|
|
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)
|
rs149513743
|
0.00010
|
|
NM_004493.3(HSD17B10):c.147C>G (p.Ala49=)
|
rs367982176
|
0.00010
|
|
NM_004817.4(TJP2):c.334G>A (p.Ala112Thr)
|
rs144396411
|
0.00010
|
|
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=)
|
rs370644634
|
0.00010
|
|
NM_005148.4(UNC119):c.600C>T (p.Ser200=)
|
rs142549864
|
0.00010
|
|
NM_005548.3(KARS1):c.222+10C>T
|
rs374496494
|
0.00010
|
|
NM_005732.4(RAD50):c.3508G>A (p.Asp1170Asn)
|
rs397507179
|
0.00010
|
|
NM_006012.4(CLPP):c.100C>T (p.Pro34Ser)
|
rs776759641
|
0.00010
|
|
NM_006118.4(HAX1):c.505-4G>A
|
rs186219647
|
0.00010
|
|
NM_006231.4(POLE):c.4450A>C (p.Ile1484Leu)
|
rs772734618
|
0.00010
|
|
NM_006231.4(POLE):c.6531+6G>T
|
rs774747998
|
0.00010
|
|
NM_006517.5(SLC16A2):c.1502A>G (p.His501Arg)
|
rs140303247
|
0.00010
|
|
NM_006623.4(PHGDH):c.1543C>T (p.Leu515=)
|
rs148721434
|
0.00010
|
|
NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val)
|
rs750315709
|
0.00010
|
|
NM_006892.4(DNMT3B):c.1804G>A (p.Val602Ile)
|
rs752495145
|
0.00010
|
|
NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro)
|
rs141214900
|
0.00010
|
|
NM_006947.4(SRP72):c.110-5T>G
|
rs186908289
|
0.00010
|
|
NM_006947.4(SRP72):c.1135A>G (p.Met379Val)
|
rs201095666
|
0.00010
|
|
NM_012193.4(FZD4):c.1589G>A (p.Gly530Glu)
|
rs201256460
|
0.00010
|
|
NM_013296.5(GPSM2):c.505G>A (p.Glu169Lys)
|
rs775142959
|
0.00010
|
|
NM_014159.7(SETD2):c.1180T>C (p.Cys394Arg)
|
rs368465960
|
0.00010
|
|
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=)
|
rs147259971
|
0.00010
|
|
NM_014244.5(ADAMTS2):c.2085+8C>A
|
rs199825726
|
0.00010
|
|
NM_014252.4(SLC25A15):c.278G>A (p.Arg93Gln)
|
rs369201060
|
0.00010
|
|
NM_014252.4(SLC25A15):c.861C>T (p.Tyr287=)
|
rs148422923
|
0.00010
|
|
NM_014339.7(IL17RA):c.625G>A (p.Val209Met)
|
rs534512644
|
0.00010
|
|
NM_014339.7(IL17RA):c.676G>C (p.Glu226Gln)
|
rs144085995
|
0.00010
|
|
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp)
|
rs200517685
|
0.00010
|
|
NM_014384.3(ACAD8):c.567+12C>T
|
rs375812492
|
0.00010
|
|
NM_014844.5(TECPR2):c.3990C>T (p.Asn1330=)
|
rs757779692
|
0.00010
|
|
NM_014855.3(AP5Z1):c.1132+7C>T
|
rs775865217
|
0.00010
|
|
NM_014989.7(RIMS1):c.169G>C (p.Val57Leu)
|
rs200005095
|
0.00010
|
|
NM_015175.3(NBEAL2):c.4211G>A (p.Arg1404His)
|
rs202066156
|
0.00010
|
|
NM_015270.5(ADCY6):c.1333C>A (p.His445Asn)
|
rs201102889
|
0.00010
|
|
NM_015425.6(POLR1A):c.2969+8G>A
|
rs376999911
|
0.00010
|
|
NM_015512.5(DNAH1):c.4396C>T (p.Leu1466Phe)
|
rs368608665
|
0.00010
|
|
NM_015627.3(LDLRAP1):c.423C>T (p.Leu141=)
|
rs140170877
|
0.00010
|
|
NM_015884.4(MBTPS2):c.291G>A (p.Thr97=)
|
rs143335256
|
0.00010
|
|
NM_015909.4(NBAS):c.6827C>T (p.Thr2276Met)
|
rs144615326
|
0.00010
|
|
NM_016222.4(DDX41):c.38C>T (p.Thr13Ile)
|
rs61736559
|
0.00010
|
|
NM_016239.4(MYO15A):c.7533C>T (p.Pro2511=)
|
rs369717113
|
0.00010
|
|
NM_017534.6(MYH2):c.1566C>T (p.Ala522=)
|
rs142383679
|
0.00010
|
|
NM_017534.6(MYH2):c.2266G>A (p.Asp756Asn)
|
rs202198533
|
0.00010
|
|
NM_017654.4(SAMD9):c.3215T>C (p.Leu1072Pro)
|
rs144312575
|
0.00010
|
|
NM_017668.3(NDE1):c.*164A>C
|
rs370252949
|
0.00010
|
|
NM_017763.6(RNF43):c.434G>A (p.Arg145Gln)
|
rs151209912
|
0.00010
|
|
NM_017827.4(SARS2):c.1292G>A (p.Arg431His)
|
rs146193366
|
0.00010
|
|
NM_018060.4(IARS2):c.2360G>A (p.Arg787Gln)
|
rs189118525
|
0.00010
|
|
NM_018344.6(SLC29A3):c.855G>A (p.Ser285=)
|
rs566110994
|
0.00010
|
|
NM_018668.5(VPS33B):c.1105+10G>A
|
rs370555380
|
0.00010
|
|
NM_018699.4(PRDM5):c.1031-6T>A
|
rs753768741
|
0.00010
|
|
NM_018941.4(CLN8):c.725C>T (p.Thr242Met)
|
rs138821993
|
0.00010
|
|
NM_020549.5(CHAT):c.119G>T (p.Gly40Val)
|
rs776411377
|
0.00010
|
|
NM_020754.4(ARHGAP31):c.2216C>T (p.Pro739Leu)
|
rs200598971
|
0.00010
|
|
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=)
|
rs201589645
|
0.00010
|
|
NM_022124.6(CDH23):c.3764A>T (p.Lys1255Met)
|
rs372158876
|
0.00010
|
|
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=)
|
rs186866326
|
0.00010
|
|
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn)
|
rs191021194
|
0.00010
|
|
NM_022124.6(CDH23):c.8824G>A (p.Asp2942Asn)
|
rs371286324
|
0.00010
|
|
NM_022369.4(STRA6):c.1566G>T (p.Val522=)
|
rs886051474
|
0.00010
|
|
NM_022455.5(NSD1):c.3500G>A (p.Arg1167His)
|
rs763399938
|
0.00010
|
|
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=)
|
rs140229717
|
0.00010
|
|
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)
|
rs199815871
|
0.00010
|
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
|
NM_025074.7(FRAS1):c.237T>C (p.Ala79=)
|
rs370345916
|
0.00010
|
|
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)
|
rs371582975
|
0.00010
|
|
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)
|
rs375817905
|
0.00010
|
|
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=)
|
rs199848479
|
0.00010
|
|
NM_032119.4(ADGRV1):c.12373A>G (p.Ile4125Val)
|
rs766991551
|
0.00010
|
|
NM_032119.4(ADGRV1):c.1411G>C (p.Val471Leu)
|
rs190427962
|
0.00010
|
|
NM_032119.4(ADGRV1):c.155G>A (p.Arg52His)
|
rs199798095
|
0.00010
|
|
NM_032119.4(ADGRV1):c.17669T>A (p.Met5890Lys)
|
rs142905845
|
0.00010
|
|
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu)
|
rs200530343
|
0.00010
|
|
NM_032119.4(ADGRV1):c.3934G>A (p.Val1312Met)
|
rs199552258
|
0.00010
|
|
NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr)
|
rs201180985
|
0.00010
|
|
NM_032119.4(ADGRV1):c.5351G>A (p.Arg1784Lys)
|
rs748852381
|
0.00010
|
|
NM_032119.4(ADGRV1):c.8295G>T (p.Leu2765Phe)
|
rs141681122
|
0.00010
|
|
NM_032444.4(SLX4):c.73G>A (p.Gly25Arg)
|
rs201533738
|
0.00010
|
|
NM_032601.4(MCEE):c.164T>C (p.Val55Ala)
|
rs374147386
|
0.00010
|
|
NM_032888.4(COL27A1):c.3262C>A (p.Pro1088Thr)
|
rs146162741
|
0.00010
|
|
NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser)
|
rs202190573
|
0.00010
|
|
NM_033109.5(PNPT1):c.40C>T (p.Arg14Trp)
|
rs199712282
|
0.00010
|
|
NM_052859.4(RFT1):c.827-14T>C
|
rs571722733
|
0.00010
|
|
NM_053025.4(MYLK):c.2799G>A (p.Val933=)
|
rs144806671
|
0.00010
|
|
NM_080680.3(COL11A2):c.2417G>A (p.Arg806His)
|
rs200552277
|
0.00010
|
|
NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp)
|
rs143920565
|
0.00010
|
|
NM_080680.3(COL11A2):c.5071-7C>G
|
rs200548977
|
0.00010
|
|
NM_080916.3(DGUOK):c.60G>A (p.Lys20=)
|
rs961313523
|
0.00010
|
|
NM_133444.3(ZNF526):c.1675G>A (p.Ala559Thr)
|
rs200018551
|
0.00010
|
|
NM_133497.4(KCNV2):c.168G>A (p.Glu56=)
|
rs201975160
|
0.00010
|
|
NM_138694.4(PKHD1):c.1694-10C>G
|
rs745911880
|
0.00010
|
|
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His)
|
rs141177165
|
0.00010
|
|
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=)
|
rs148497044
|
0.00010
|
|
NM_139343.3(BIN1):c.1047G>A (p.Pro349=)
|
rs148945502
|
0.00010
|
|
NM_139343.3(BIN1):c.942C>T (p.His314=)
|
rs370911793
|
0.00010
|
|
NM_144992.5(VWA3B):c.3471G>A (p.Ala1157=)
|
rs146673560
|
0.00010
|
|
NM_152383.5(DIS3L2):c.108G>A (p.Lys36=)
|
rs371477071
|
0.00010
|
|
NM_152383.5(DIS3L2):c.2124C>T (p.Asp708=)
|
rs368518323
|
0.00010
|
|
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=)
|
rs200982547
|
0.00010
|
|
NM_152783.5(D2HGDH):c.1306+15G>A
|
rs759068118
|
0.00010
|
|
NM_173354.5(SIK1):c.1457C>T (p.Ala486Val)
|
rs369897512
|
0.00010
|
|
NM_178138.6(LHX3):c.198C>G (p.Ala66=)
|
rs190916587
|
0.00010
|
|
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu)
|
rs144907002
|
0.00010
|
|
NM_194248.3(OTOF):c.4642G>A (p.Glu1548Lys)
|
rs146982209
|
0.00010
|
|
NM_198506.5(LRIT3):c.710G>A (p.Arg237His)
|
rs150750727
|
0.00010
|
|
NM_198525.3(KIF7):c.3759C>G (p.Pro1253=)
|
rs147767277
|
0.00010
|
|
NM_201525.4(ADGRG1):c.1371C>T (p.Ser457=)
|
rs747812668
|
0.00010
|
|
NM_201525.4(ADGRG1):c.26C>T (p.Thr9Met)
|
rs200241873
|
0.00010
|
|
NM_205850.3(SLC24A5):c.1025C>T (p.Ala342Val)
|
rs199924625
|
0.00010
|
|
NM_206933.4(USH2A):c.15306C>T (p.Ala5102=)
|
rs149506333
|
0.00010
|
|
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val)
|
rs727503735
|
0.00010
|
|
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)
|
rs200790812
|
0.00010
|
|
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)
|
rs150060240
|
0.00010
|
|
NM_207361.6(FREM2):c.6333C>T (p.Gly2111=)
|
rs116763572
|
0.00010
|
|
NM_000018.4(ACADVL):c.114G>C (p.Arg38=)
|
rs777380964
|
0.00009
|
|
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=)
|
rs779236098
|
0.00009
|
|
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=)
|
rs201496204
|
0.00009
|
|
NM_000022.4(ADA):c.714C>T (p.His238=)
|
rs577317154
|
0.00009
|
|
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu)
|
rs138019537
|
0.00009
|
|
NM_000037.4(ANK1):c.1926C>T (p.Ala642=)
|
rs534680895
|
0.00009
|
|
NM_000046.5(ARSB):c.1122C>T (p.Phe374=)
|
rs149886659
|
0.00009
|
|
NM_000049.4(ASPA):c.906G>A (p.Thr302=)
|
rs371394875
|
0.00009
|
|
NM_000051.4(ATM):c.2778A>G (p.Lys926=)
|
rs372569168
|
0.00009
|
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
|
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)
|
rs587778079
|
0.00009
|
|
NM_000051.4(ATM):c.8851-3T>G
|
rs748874219
|
0.00009
|
|
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu)
|
rs201999500
|
0.00009
|
|
NM_000053.4(ATP7B):c.2994C>T (p.Gly998=)
|
rs373102009
|
0.00009
|
|
NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly)
|
rs199924281
|
0.00009
|
|
NM_000053.4(ATP7B):c.610A>G (p.Met204Val)
|
rs200605351
|
0.00009
|
|
NM_000057.4(BLM):c.2739C>T (p.Leu913=)
|
rs759223856
|
0.00009
|
|
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu)
|
rs374691587
|
0.00009
|
|
NM_000063.6(C2):c.345C>T (p.Phe115=)
|
rs138358319
|
0.00009
|
|
NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile)
|
rs202240111
|
0.00009
|
|
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr)
|
rs148246325
|
0.00009
|
|
NM_000081.4(LYST):c.281C>T (p.Thr94Ile)
|
rs777389303
|
0.00009
|
|
NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser)
|
rs890999119
|
0.00009
|
|
NM_000091.5(COL4A3):c.2662G>A (p.Asp888Asn)
|
rs376762135
|
0.00009
|
|
NM_000091.5(COL4A3):c.3255G>A (p.Met1085Ile)
|
rs374427586
|
0.00009
|
|
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr)
|
rs144036466
|
0.00009
|
|
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val)
|
rs371066387
|
0.00009
|
|
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His)
|
rs200146486
|
0.00009
|
|
NM_000092.5(COL4A4):c.3914C>T (p.Pro1305Leu)
|
rs746621296
|
0.00009
|
|
NM_000094.4(COL7A1):c.3343G>C (p.Gly1115Arg)
|
rs200235451
|
0.00009
|
|
NM_000094.4(COL7A1):c.4135C>T (p.Arg1379Cys)
|
rs200802373
|
0.00009
|
|
NM_000124.4(ERCC6):c.879A>T (p.Arg293Ser)
|
rs563356062
|
0.00009
|
|
NM_000127.3(EXT1):c.1674A>G (p.Thr558=)
|
rs202051061
|
0.00009
|
|
NM_000128.4(F11):c.1059C>T (p.Asn353=)
|
rs766026346
|
0.00009
|
|
NM_000128.4(F11):c.486-10T>A
|
rs370991682
|
0.00009
|
|
NM_000135.4(FANCA):c.1371G>T (p.Gly457=)
|
rs369988875
|
0.00009
|
|
NM_000135.4(FANCA):c.189+12C>G
|
rs753101174
|
0.00009
|
|
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile)
|
rs774863156
|
0.00009
|
|
NM_000135.4(FANCA):c.3138C>T (p.His1046=)
|
rs150884376
|
0.00009
|
|
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=)
|
rs774576283
|
0.00009
|
|
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp)
|
rs139478274
|
0.00009
|
|
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn)
|
rs371377334
|
0.00009
|
|
NM_000152.5(GAA):c.711G>A (p.Ala237=)
|
rs368328598
|
0.00009
|
|
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=)
|
rs763195503
|
0.00009
|
|
NM_000169.3(GLA):c.865A>G (p.Ile289Val)
|
rs140329381
|
0.00009
|
|
NM_000187.4(HGD):c.1206A>G (p.Ser402=)
|
rs140500816
|
0.00009
|
|
NM_000199.5(SGSH):c.417G>A (p.Thr139=)
|
rs142729872
|
0.00009
|
|
NM_000199.5(SGSH):c.506+9C>T
|
rs376523398
|
0.00009
|
|
NM_000199.5(SGSH):c.636C>T (p.Pro212=)
|
rs771680187
|
0.00009
|
|
NM_000206.3(IL2RG):c.1042G>A (p.Ala348Thr)
|
rs140216601
|
0.00009
|
|
NM_000211.5(ITGB2):c.729C>T (p.Val243=)
|
rs199735877
|
0.00009
|
|
NM_000215.4(JAK3):c.2097G>A (p.Ala699=)
|
rs571402316
|
0.00009
|
|
NM_000215.4(JAK3):c.2391A>G (p.Ala797=)
|
rs199910484
|
0.00009
|
|
NM_000215.4(JAK3):c.3183G>T (p.Pro1061=)
|
rs369402343
|
0.00009
|
|
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln)
|
rs776289036
|
0.00009
|
|
NM_000231.3(SGCG):c.506-7T>G
|
rs774582375
|
0.00009
|
|
NM_000260.4(MYO7A):c.2088C>T (p.Tyr696=)
|
rs781964494
|
0.00009
|
|
NM_000260.4(MYO7A):c.2915G>A (p.Arg972Gln)
|
rs782426472
|
0.00009
|
|
NM_000260.4(MYO7A):c.3750+7G>A
|
rs397516305
|
0.00009
|
|
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=)
|
rs111033376
|
0.00009
|
|
NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln)
|
rs397516328
|
0.00009
|
|
NM_000268.4(NF2):c.879T>C (p.Asn293=)
|
rs151198477
|
0.00009
|
|
NM_000271.5(NPC1):c.2775C>T (p.Asn925=)
|
rs147419225
|
0.00009
|
|
NM_000274.4(OAT):c.1015-5C>T
|
rs764963374
|
0.00009
|
|
NM_000277.3(PAH):c.60+9C>T
|
rs369454152
|
0.00009
|
|
NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser)
|
rs140224236
|
0.00009
|
|
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys)
|
rs144211929
|
0.00009
|
|
NM_000317.3(PTS):c.174A>G (p.Thr58=)
|
rs745627441
|
0.00009
|
|
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=)
|
rs368278422
|
0.00009
|
|
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn)
|
rs199473599
|
0.00009
|
|
NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=)
|
rs148703534
|
0.00009
|
|
NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp)
|
rs150557210
|
0.00009
|
|
NM_000350.3(ABCA4):c.573C>T (p.Phe191=)
|
rs374454045
|
0.00009
|
|
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met)
|
rs202127235
|
0.00009
|
|
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu)
|
rs190540405
|
0.00009
|
|
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His)
|
rs199763382
|
0.00009
|
|
NM_000352.6(ABCC8):c.2544C>T (p.Asn848=)
|
rs144200345
|
0.00009
|
|
NM_000377.3(WAS):c.803G>A (p.Arg268Gln)
|
rs376560886
|
0.00009
|
|
NM_000384.3(APOB):c.10295A>G (p.Gln3432Arg)
|
rs759043889
|
0.00009
|
|
NM_000384.3(APOB):c.3972G>T (p.Lys1324Asn)
|
rs775070656
|
0.00009
|
|
NM_000392.5(ABCC2):c.3834G>A (p.Val1278=)
|
rs150472537
|
0.00009
|
|
NM_000428.3(LTBP2):c.1686+8C>G
|
rs563097395
|
0.00009
|
|
NM_000431.4(MVK):c.591C>T (p.His197=)
|
rs104895329
|
0.00009
|
|
NM_000435.3(NOTCH3):c.3421G>A (p.Val1141Met)
|
rs373181668
|
0.00009
|
|
NM_000435.3(NOTCH3):c.5900T>C (p.Met1967Thr)
|
rs377589088
|
0.00009
|
|
NM_000435.3(NOTCH3):c.6239G>A (p.Arg2080Gln)
|
rs759896413
|
0.00009
|
|
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)
|
rs727505080
|
0.00009
|
|
NM_000452.3(SLC10A2):c.363C>T (p.Gly121=)
|
rs143992162
|
0.00009
|
|
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=)
|
rs751225159
|
0.00009
|
|
NM_000458.4(HNF1B):c.1637T>C (p.Met546Thr)
|
rs551889844
|
0.00009
|
|
NM_000458.4(HNF1B):c.1654-9T>A
|
rs200579660
|
0.00009
|
|
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)
|
rs146946984
|
0.00009
|
|
NM_000481.4(AMT):c.589G>C (p.Asp197His)
|
rs200550585
|
0.00009
|
|
NM_000488.4(SERPINC1):c.299A>G (p.Asp100Gly)
|
rs369524182
|
0.00009
|
|
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)
|
rs55928397
|
0.00009
|
|
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
|
NM_000506.5(F2):c.317-4G>A
|
rs375713715
|
0.00009
|
|
NM_000512.5(GALNS):c.857C>T (p.Thr286Met)
|
rs137927658
|
0.00009
|
|
NM_000515.5(GH1):c.387C>T (p.Tyr129=)
|
rs370785603
|
0.00009
|
|
NM_000527.5(LDLR):c.1586+15C>T
|
rs371716068
|
0.00009
|
|
NM_000528.4(MAN2B1):c.474C>T (p.Asn158=)
|
rs146331898
|
0.00009
|
|
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=)
|
rs3745649
|
0.00009
|
|
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=)
|
rs191375566
|
0.00009
|
|
NM_000540.3(RYR1):c.10824+8G>A
|
rs374325589
|
0.00009
|
|
NM_000540.3(RYR1):c.13849G>A (p.Gly4617Arg)
|
rs202226983
|
0.00009
|
|
NM_000540.3(RYR1):c.1593C>T (p.Gly531=)
|
rs927675372
|
0.00009
|
|
NM_000540.3(RYR1):c.4185C>T (p.Val1395=)
|
rs761955179
|
0.00009
|
|
NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu)
|
rs199837883
|
0.00009
|
|
NM_000540.3(RYR1):c.6549-9C>T
|
rs370994573
|
0.00009
|
|
NM_000540.3(RYR1):c.9063G>A (p.Pro3021=)
|
rs200068725
|
0.00009
|
|
NM_000541.5(SAG):c.474A>G (p.Thr158=)
|
rs886042737
|
0.00009
|
|
NM_000541.5(SAG):c.843G>A (p.Thr281=)
|
rs374774483
|
0.00009
|
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
|
NM_000546.6(TP53):c.993+13G>C
|
rs369599972
|
0.00009
|
|
NM_000601.6(HGF):c.270T>C (p.Asp90=)
|
rs145598174
|
0.00009
|
|
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln)
|
rs147977213
|
0.00009
|
|
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)
|
rs368567109
|
0.00009
|
|
NM_000717.5(CA4):c.415A>T (p.Met139Leu)
|
rs185658468
|
0.00009
|
|
NM_000751.3(CHRND):c.480C>T (p.Phe160=)
|
rs200986300
|
0.00009
|
|
NM_000781.3(CYP11A1):c.269+4A>G
|
rs199573967
|
0.00009
|
|
NM_001005361.3(DNM2):c.633C>T (p.Asp211=)
|
rs200191870
|
0.00009
|
|
NM_001005373.4(LRSAM1):c.1422+15T>A
|
rs372509526
|
0.00009
|
|
NM_001005373.4(LRSAM1):c.1772C>T (p.Ala591Val)
|
rs139344911
|
0.00009
|
|
NM_001025603.2(RFX5):c.1830C>G (p.Asp610Glu)
|
rs141889707
|
0.00009
|
|
NM_001035.3(RYR2):c.3598+13T>C
|
rs145104355
|
0.00009
|
|
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)
|
rs755391572
|
0.00009
|
|
NM_001042472.3(ABHD12):c.118C>G (p.Leu40Val)
|
rs746196586
|
0.00009
|
|
NM_001042492.3(NF1):c.4724+11A>G
|
rs368649260
|
0.00009
|
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
|
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=)
|
rs141077224
|
0.00009
|
|
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr)
|
rs587780744
|
0.00009
|
|
NM_001048174.2(MUTYH):c.606+14C>G
|
rs752537118
|
0.00009
|
|
NM_001077653.2(TBX20):c.1331C>T (p.Thr444Met)
|
rs201217462
|
0.00009
|
|
NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu)
|
rs373315916
|
0.00009
|
|
NM_001080.3(ALDH5A1):c.727-13T>G
|
rs187404409
|
0.00009
|
|
NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys)
|
rs183911558
|
0.00009
|
|
NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp)
|
rs551046401
|
0.00009
|
|
NM_001083116.3(PRF1):c.1350G>A (p.Thr450=)
|
rs200312496
|
0.00009
|
|
NM_001100.4(ACTA1):c.867C>T (p.Ile289=)
|
rs140074813
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.2105-15C>T
|
rs190471428
|
0.00009
|
|
NM_001130823.3(DNMT1):c.483T>C (p.Thr161=)
|
rs764496230
|
0.00009
|
|
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=)
|
rs146687581
|
0.00009
|
|
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp)
|
rs149386446
|
0.00009
|
|
NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile)
|
rs201622087
|
0.00009
|
|
NM_001130987.2(DYSF):c.337C>T (p.Pro113Ser)
|
rs753922932
|
0.00009
|
|
NM_001130987.2(DYSF):c.3402+11C>G
|
rs780844859
|
0.00009
|
|
NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg)
|
rs775881095
|
0.00009
|
|
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala)
|
rs151268930
|
0.00009
|
|
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg)
|
rs201890095
|
0.00009
|
|
NM_001142800.2(EYS):c.7284A>C (p.Ser2428=)
|
rs775877185
|
0.00009
|
|
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu)
|
rs750027720
|
0.00009
|
|
NM_001161352.2(KCNMA1):c.2283G>A (p.Pro761=)
|
rs377596790
|
0.00009
|
|
NM_001161352.2(KCNMA1):c.483C>T (p.Ser161=)
|
rs200741233
|
0.00009
|
|
NM_001161352.2(KCNMA1):c.884+15G>A
|
rs200196183
|
0.00009
|
|
NM_001164508.2(NEB):c.11559T>C (p.Asn3853=)
|
rs369429046
|
0.00009
|
|
NM_001164508.2(NEB):c.12279G>A (p.Pro4093=)
|
rs367638234
|
0.00009
|
|
NM_001164508.2(NEB):c.17844+7C>T
|
rs373259828
|
0.00009
|
|
NM_001164508.2(NEB):c.18866G>A (p.Arg6289Gln)
|
rs575958060
|
0.00009
|
|
NM_001164508.2(NEB):c.18870C>T (p.Asn6290=)
|
rs200122580
|
0.00009
|
|
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006
|
0.00009
|
|
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe)
|
rs201028196
|
0.00009
|
|
NM_001164508.2(NEB):c.23770G>A (p.Gly7924Ser)
|
rs369602540
|
0.00009
|
|
NM_001164508.2(NEB):c.23812C>T (p.Arg7938Cys)
|
rs372117694
|
0.00009
|
|
NM_001164508.2(NEB):c.25163G>A (p.Arg8388His)
|
rs139333406
|
0.00009
|
|
NM_001164508.2(NEB):c.7914C>T (p.Ser2638=)
|
rs373353657
|
0.00009
|
|
NM_001164508.2(NEB):c.8800C>T (p.Arg2934Cys)
|
rs771598053
|
0.00009
|
|
NM_001164508.2(NEB):c.9832-7A>T
|
rs778183317
|
0.00009
|
|
NM_001166114.2(PNPLA6):c.648G>A (p.Pro216=)
|
rs566213812
|
0.00009
|
|
NM_001195263.2(PDZD7):c.1638T>C (p.Asn546=)
|
rs760557332
|
0.00009
|
|
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met)
|
rs201649140
|
0.00009
|
|
NM_001199397.3(NEK1):c.2421C>T (p.Phe807=)
|
rs56346829
|
0.00009
|
|
NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile)
|
rs200083866
|
0.00009
|
|
NM_001242957.3(MAK):c.405T>G (p.Gly135=)
|
rs373994062
|
0.00009
|
|
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=)
|
rs150374081
|
0.00009
|
|
NM_001256545.2(MEGF10):c.2157T>C (p.His719=)
|
rs374544972
|
0.00009
|
|
NM_001256545.2(MEGF10):c.2289C>T (p.Asn763=)
|
rs151316424
|
0.00009
|
|
NM_001256545.2(MEGF10):c.2442T>C (p.Thr814=)
|
rs370850456
|
0.00009
|
|
NM_001256545.2(MEGF10):c.2943G>A (p.Pro981=)
|
rs371253627
|
0.00009
|
|
NM_001256789.3(CACNA1F):c.5827G>A (p.Asp1943Asn)
|
rs374663693
|
0.00009
|
|
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)
|
rs766600801
|
0.00009
|
|
NM_001277115.2(DNAH11):c.12534A>G (p.Pro4178=)
|
rs752183095
|
0.00009
|
|
NM_001277115.2(DNAH11):c.1513C>T (p.His505Tyr)
|
rs771891040
|
0.00009
|
|
NM_001277115.2(DNAH11):c.1655G>T (p.Gly552Val)
|
rs187510989
|
0.00009
|
|
NM_001277115.2(DNAH11):c.7603C>T (p.Arg2535Cys)
|
rs374335908
|
0.00009
|
|
NM_001288705.3(CSF1R):c.470C>T (p.Ser157Leu)
|
rs148673905
|
0.00009
|
|
NM_001291303.3(FAT4):c.14362G>A (p.Gly4788Arg)
|
rs138173652
|
0.00009
|
|
NM_001291303.3(FAT4):c.7813A>G (p.Ile2605Val)
|
rs745697037
|
0.00009
|
|
NM_001291303.3(FAT4):c.8537G>A (p.Arg2846Gln)
|
rs373393333
|
0.00009
|
|
NM_001292034.3(TAB2):c.311C>T (p.Thr104Met)
|
rs559771770
|
0.00009
|
|
NM_001292063.2(OTOG):c.2294-7A>G
|
rs200998174
|
0.00009
|
|
NM_001355436.2(SPTB):c.3425G>A (p.Arg1142Gln)
|
rs141173028
|
0.00009
|
|
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=)
|
rs777517985
|
0.00009
|
|
NM_001360.3(DHCR7):c.735C>T (p.Ile245=)
|
rs12800
|
0.00009
|
|
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)
|
rs144889528
|
0.00009
|
|
NM_001365999.1(SZT2):c.5665G>T (p.Ala1889Ser)
|
rs370230435
|
0.00009
|
|
NM_001367624.2(ZNF469):c.266A>G (p.Lys89Arg)
|
rs1022368248
|
0.00009
|
|
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln)
|
rs144393366
|
0.00009
|
|
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln)
|
rs140832239
|
0.00009
|
|
NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys)
|
rs201242847
|
0.00009
|
|
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=)
|
rs371157628
|
0.00009
|
|
NM_001369.3(DNAH5):c.4821G>T (p.Gln1607His)
|
rs773599958
|
0.00009
|
|
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala)
|
rs143074036
|
0.00009
|
|
NM_001369268.1(ACAN):c.2261T>C (p.Leu754Pro)
|
rs577419060
|
0.00009
|
|
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)
|
rs143329068
|
0.00009
|
|
NM_001374385.1(ATP8B1):c.903G>A (p.Arg301=)
|
rs762363452
|
0.00009
|
|
NM_001376.5(DYNC1H1):c.13515+8C>T
|
rs200901713
|
0.00009
|
|
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=)
|
rs147580834
|
0.00009
|
|
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=)
|
rs761916499
|
0.00009
|
|
NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val)
|
rs201224700
|
0.00009
|
|
NM_001377.3(DYNC2H1):c.8833-3T>C
|
rs551227065
|
0.00009
|
|
NM_001378183.1(PIEZO2):c.1006G>A (p.Ala336Thr)
|
rs368601054
|
0.00009
|
|
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=)
|
rs1052804740
|
0.00009
|
|
NM_001378454.1(ALMS1):c.9908-13C>T
|
rs373325114
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.2182-9G>A
|
rs376312792
|
0.00009
|
|
NM_001382567.1(STIM1):c.408G>C (p.Glu136Asp)
|
rs200648767
|
0.00009
|
|
NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=)
|
rs150784450
|
0.00009
|
|
NM_001384474.1(LOXHD1):c.5458A>T (p.Thr1820Ser)
|
rs775871086
|
0.00009
|
|
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=)
|
rs749182319
|
0.00009
|
|
NM_001384732.1(CPLANE1):c.2446C>G (p.Leu816Val)
|
rs192335673
|
0.00009
|
|
NM_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys)
|
rs144969169
|
0.00009
|
|
NM_001384732.1(CPLANE1):c.6446G>A (p.Ser2149Asn)
|
rs765250980
|
0.00009
|
|
NM_001384732.1(CPLANE1):c.6512G>A (p.Arg2171Gln)
|
rs377742483
|
0.00009
|
|
NM_001395413.1(POR):c.1806+7C>T
|
rs72557951
|
0.00009
|
|
NM_001395413.1(POR):c.357+14G>A
|
rs372941705
|
0.00009
|
|
NM_001429.4(EP300):c.586A>G (p.Ile196Val)
|
rs148693910
|
0.00009
|
|
NM_001457.4(FLNB):c.3673G>A (p.Ala1225Thr)
|
rs371610564
|
0.00009
|
|
NM_001457.4(FLNB):c.7120C>T (p.Arg2374Cys)
|
rs146963572
|
0.00009
|
|
NM_001458.5(FLNC):c.1205C>T (p.Thr402Ile)
|
rs374757755
|
0.00009
|
|
NM_001458.5(FLNC):c.5410A>T (p.Met1804Leu)
|
rs201949844
|
0.00009
|
|
NM_001458.5(FLNC):c.643G>A (p.Val215Met)
|
rs754309921
|
0.00009
|
|
NM_001556.3(IKBKB):c.2087A>G (p.Asn696Ser)
|
rs202226005
|
0.00009
|
|
NM_001558.4(IL10RA):c.1452G>A (p.Glu484=)
|
rs139576148
|
0.00009
|
|
NM_001692.4(ATP6V1B1):c.1061-13A>G
|
rs200724195
|
0.00009
|
|
NM_001692.4(ATP6V1B1):c.669C>T (p.Ile223=)
|
rs372233648
|
0.00009
|
|
NM_001793.6(CDH3):c.2364C>T (p.Asp788=)
|
rs144637479
|
0.00009
|
|
NM_001844.5(COL2A1):c.112G>A (p.Gly38Arg)
|
rs765855138
|
0.00009
|
|
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys)
|
rs146046296
|
0.00009
|
|
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala)
|
rs374930028
|
0.00009
|
|
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln)
|
rs146288748
|
0.00009
|
|
NM_001846.4(COL4A2):c.1256C>T (p.Ala419Val)
|
rs72657933
|
0.00009
|
|
NM_001851.6(COL9A1):c.344C>T (p.Thr115Met)
|
rs200018557
|
0.00009
|
|
NM_001851.6(COL9A1):c.38T>C (p.Val13Ala)
|
rs140274454
|
0.00009
|
|
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu)
|
rs192842970
|
0.00009
|
|
NM_001875.5(CPS1):c.1087-7C>T
|
rs202117044
|
0.00009
|
|
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr)
|
rs201955205
|
0.00009
|
|
NM_001876.4(CPT1A):c.1910C>T (p.Ser637Phe)
|
rs150459546
|
0.00009
|
|
NM_001876.4(CPT1A):c.2028+7C>G
|
rs768465007
|
0.00009
|
|
NM_001943.5(DSG2):c.147C>T (p.Arg49=)
|
rs531036279
|
0.00009
|
|
NM_001987.5(ETV6):c.605G>A (p.Arg202Gln)
|
rs200351280
|
0.00009
|
|
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val)
|
rs145353444
|
0.00009
|
|
NM_002076.4(GNS):c.624+10A>G
|
rs757526895
|
0.00009
|
|
NM_002103.5(GYS1):c.1305G>A (p.Thr435=)
|
rs147610727
|
0.00009
|
|
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val)
|
rs370414354
|
0.00009
|
|
NM_002187.3(IL12B):c.300G>A (p.Ser100=)
|
rs142998256
|
0.00009
|
|
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr)
|
rs752594411
|
0.00009
|
|
NM_002291.3(LAMB1):c.5225-8C>A
|
rs778153007
|
0.00009
|
|
NM_002303.6(LEPR):c.2171T>C (p.Val724Ala)
|
rs375934938
|
0.00009
|
|
NM_002303.6(LEPR):c.296G>A (p.Cys99Tyr)
|
rs548848340
|
0.00009
|
|
NM_002473.6(MYH9):c.5188C>T (p.Arg1730Cys)
|
rs201021615
|
0.00009
|
|
NM_002474.3(MYH11):c.3293+6G>A
|
rs370658839
|
0.00009
|
|
NM_002474.3(MYH11):c.5277C>T (p.Val1759=)
|
rs112564682
|
0.00009
|
|
NM_002528.7(NTHL1):c.607C>T (p.Leu203=)
|
rs369076851
|
0.00009
|
|
NM_002529.4(NTRK1):c.659G>A (p.Arg220Gln)
|
rs540751200
|
0.00009
|
|
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro)
|
rs202077756
|
0.00009
|
|
NM_002875.5(RAD51):c.531-12C>T
|
rs752351863
|
0.00009
|
|
NM_002907.4(RECQL):c.2T>C (p.Met1Thr)
|
rs146924988
|
0.00009
|
|
NM_003072.5(SMARCA4):c.1812+3G>A
|
rs371562008
|
0.00009
|
|
NM_003119.4(SPG7):c.1971C>T (p.Ile657=)
|
rs140356355
|
0.00009
|
|
NM_003119.4(SPG7):c.454A>G (p.Met152Val)
|
rs146186857
|
0.00009
|
|
NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile)
|
rs369125471
|
0.00009
|
|
NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn)
|
rs375506528
|
0.00009
|
|
NM_003331.5(TYK2):c.1398C>T (p.Pro466=)
|
rs200752112
|
0.00009
|
|
NM_003356.4(UCP3):c.922C>T (p.Arg308Trp)
|
rs763155375
|
0.00009
|
|
NM_003383.5(VLDLR):c.315A>G (p.Pro105=)
|
rs138500615
|
0.00009
|
|
NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn)
|
rs587778463
|
0.00009
|
|
NM_003482.4(KMT2D):c.7366C>T (p.Arg2456Cys)
|
rs754060706
|
0.00009
|
|
NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys)
|
rs766543419
|
0.00009
|
|
NM_003722.5(TP63):c.1459C>T (p.Arg487Cys)
|
rs777306829
|
0.00009
|
|
NM_003737.4(DCHS1):c.2699C>T (p.Thr900Met)
|
rs150889229
|
0.00009
|
|
NM_003742.4(ABCB11):c.1055G>A (p.Gly352Glu)
|
rs201351924
|
0.00009
|
|
NM_003742.4(ABCB11):c.1987G>A (p.Ala663Thr)
|
rs371319925
|
0.00009
|
|
NM_003742.4(ABCB11):c.2515A>G (p.Met839Val)
|
rs372757355
|
0.00009
|
|
NM_003816.3(ADAM9):c.540G>A (p.Lys180=)
|
rs186443262
|
0.00009
|
|
NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp)
|
rs139619724
|
0.00009
|
|
NM_004260.4(RECQL4):c.1485C>T (p.Gly495=)
|
rs773682937
|
0.00009
|
|
NM_004320.6(ATP2A1):c.1766C>T (p.Thr589Met)
|
rs200285714
|
0.00009
|
|
NM_004341.5(CAD):c.3309G>A (p.Thr1103=)
|
rs771911380
|
0.00009
|
|
NM_004360.5(CDH1):c.1996A>C (p.Asn666His)
|
rs150427791
|
0.00009
|
|
NM_004360.5(CDH1):c.2644G>A (p.Asp882Asn)
|
rs200104963
|
0.00009
|
|
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly)
|
rs200167099
|
0.00009
|
|
NM_004371.4(COPA):c.778C>T (p.Arg260Cys)
|
rs773636602
|
0.00009
|
|
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr)
|
rs759047530
|
0.00009
|
|
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)
|
rs372922674
|
0.00009
|
|
NM_004415.4(DSP):c.5523A>C (p.Ser1841=)
|
rs730882116
|
0.00009
|
|
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=)
|
rs377544087
|
0.00009
|
|
NM_004525.3(LRP2):c.7284T>G (p.Ser2428Arg)
|
rs373362950
|
0.00009
|
|
NM_004530.6(MMP2):c.932C>T (p.Thr311Met)
|
rs572726028
|
0.00009
|
|
NM_004629.2(FANCG):c.373_375dup (p.Val125dup)
|
rs750843326
|
0.00009
|
|
NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met)
|
rs143145248
|
0.00009
|
|
NM_004698.4(PRPF3):c.957T>C (p.Pro319=)
|
rs199721048
|
0.00009
|
|
NM_004817.4(TJP2):c.1953G>T (p.Gly651=)
|
rs750134026
|
0.00009
|
|
NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu)
|
rs200328073
|
0.00009
|
|
NM_004991.4(MECOM):c.2571C>A (p.His857Gln)
|
rs371991943
|
0.00009
|
|
NM_005045.4(RELN):c.4495G>C (p.Asp1499His)
|
rs200428576
|
0.00009
|
|
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile)
|
rs375985673
|
0.00009
|
|
NM_005142.3(CBLIF):c.1074-3T>C
|
rs370833765
|
0.00009
|
|
NM_005422.4(TECTA):c.1132G>A (p.Val378Met)
|
rs372860835
|
0.00009
|
|
NM_005422.4(TECTA):c.2266A>G (p.Lys756Glu)
|
rs141420954
|
0.00009
|
|
NM_005422.4(TECTA):c.3016G>A (p.Gly1006Ser)
|
rs375052932
|
0.00009
|
|
NM_005422.4(TECTA):c.4163G>A (p.Arg1388His)
|
rs150016625
|
0.00009
|
|
NM_005422.4(TECTA):c.5046C>T (p.Ile1682=)
|
rs200367148
|
0.00009
|
|
NM_005502.4(ABCA1):c.2903T>C (p.Met968Thr)
|
rs776604878
|
0.00009
|
|
NM_005529.7(HSPG2):c.1086G>A (p.Lys362=)
|
rs189837148
|
0.00009
|
|
NM_005529.7(HSPG2):c.2124C>T (p.Ser708=)
|
rs139220302
|
0.00009
|
|
NM_005529.7(HSPG2):c.8076C>T (p.Gly2692=)
|
rs372321167
|
0.00009
|
|
NM_005535.3(IL12RB1):c.309T>C (p.Ala103=)
|
rs369830496
|
0.00009
|
|
NM_005535.3(IL12RB1):c.320T>C (p.Val107Ala)
|
rs150285174
|
0.00009
|
|
NM_005562.3(LAMC2):c.1039C>T (p.Arg347Cys)
|
rs188149266
|
0.00009
|
|
NM_005566.4(LDHA):c.57C>T (p.Pro19=)
|
rs11553870
|
0.00009
|
|
NM_005609.4(PYGM):c.1403+5G>A
|
rs373040789
|
0.00009
|
|
NM_005609.4(PYGM):c.540C>T (p.Ala180=)
|
rs148731983
|
0.00009
|
|
NM_005609.4(PYGM):c.63C>T (p.Gly21=)
|
rs368124628
|
0.00009
|
|
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp)
|
rs558267822
|
0.00009
|
|
NM_005787.6(ALG3):c.777C>T (p.Ser259=)
|
rs142901178
|
0.00009
|
|
NM_005802.5(TOPORS):c.2344A>G (p.Thr782Ala)
|
rs746320974
|
0.00009
|
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
0.00009
|
|
NM_006005.3(WFS1):c.1657G>A (p.Gly553Ser)
|
rs150840308
|
0.00009
|
|
NM_006005.3(WFS1):c.173C>T (p.Ala58Val)
|
rs369671890
|
0.00009
|
|
NM_006005.3(WFS1):c.1759C>T (p.Arg587Trp)
|
rs138968466
|
0.00009
|
|
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu)
|
rs71526461
|
0.00009
|
|
NM_006005.3(WFS1):c.511G>A (p.Asp171Asn)
|
rs758281375
|
0.00009
|
|
NM_006005.3(WFS1):c.976G>A (p.Ala326Thr)
|
rs200790641
|
0.00009
|
|
NM_006017.3(PROM1):c.2319C>T (p.Thr773=)
|
rs185335345
|
0.00009
|
|
NM_006017.3(PROM1):c.376G>A (p.Val126Met)
|
rs199556426
|
0.00009
|
|
NM_006019.4(TCIRG1):c.2119-10C>T
|
rs377606178
|
0.00009
|
|
NM_006031.6(PCNT):c.236C>T (p.Pro79Leu)
|
rs745598788
|
0.00009
|
|
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val)
|
rs546562229
|
0.00009
|
|
NM_006031.6(PCNT):c.5477G>C (p.Gly1826Ala)
|
rs199847432
|
0.00009
|
|
NM_006031.6(PCNT):c.9099+8G>T
|
rs369178196
|
0.00009
|
|
NM_006206.6(PDGFRA):c.17C>T (p.Pro6Leu)
|
rs754092062
|
0.00009
|
|
NM_006231.4(POLE):c.5769C>T (p.Gly1923=)
|
rs375198950
|
0.00009
|
|
NM_006348.5(COG5):c.292+14A>G
|
rs374007477
|
0.00009
|
|
NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg)
|
rs140466726
|
0.00009
|
|
NM_006506.5(RASA2):c.1674+16T>A
|
rs769778924
|
0.00009
|
|
NM_006662.3(SRCAP):c.5019G>A (p.Pro1673=)
|
rs202139170
|
0.00009
|
|
NM_006662.3(SRCAP):c.7173G>A (p.Pro2391=)
|
rs150413453
|
0.00009
|
|
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser)
|
rs561495878
|
0.00009
|
|
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys)
|
rs148747022
|
0.00009
|
|
NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His)
|
rs377663856
|
0.00009
|
|
NM_007259.5(VPS45):c.1197C>A (p.Ser399Arg)
|
rs371572450
|
0.00009
|
|
NM_007272.3(CTRC):c.550G>A (p.Ala184Thr)
|
rs761546594
|
0.00009
|
|
NM_007272.3(CTRC):c.792+12C>A
|
rs371799801
|
0.00009
|
|
NM_012144.4(DNAI1):c.1019+7A>G
|
rs200720794
|
0.00009
|
|
NM_012301.4(MAGI2):c.1737C>T (p.Asp579=)
|
rs142555732
|
0.00009
|
|
NM_013247.5(HTRA2):c.1046-13C>T
|
rs542851656
|
0.00009
|
|
NM_014000.3(VCL):c.3066C>T (p.Ile1022=)
|
rs138619320
|
0.00009
|
|
NM_014140.4(SMARCAL1):c.812-15T>C
|
rs375588610
|
0.00009
|
|
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu)
|
rs187685447
|
0.00009
|
|
NM_014319.5(LEMD3):c.282C>G (p.Val94=)
|
rs867412512
|
0.00009
|
|
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys)
|
rs373478772
|
0.00009
|
|
NM_014363.6(SACS):c.5744A>G (p.His1915Arg)
|
rs144822691
|
0.00009
|
|
NM_014384.3(ACAD8):c.110-9T>C
|
rs371550147
|
0.00009
|
|
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys)
|
rs142106374
|
0.00009
|
|
NM_014727.3(KMT2B):c.6760C>A (p.Pro2254Thr)
|
rs763536557
|
0.00009
|
|
NM_014727.3(KMT2B):c.886G>A (p.Gly296Ser)
|
rs201417711
|
0.00009
|
|
NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr)
|
rs775883752
|
0.00009
|
|
NM_014908.4(DOLK):c.192A>G (p.Leu64=)
|
rs563156233
|
0.00009
|
|
NM_014915.3(ANKRD26):c.2559+10T>A
|
rs768668962
|
0.00009
|
|
NM_015107.3(PHF8):c.-4G>A
|
rs782532619
|
0.00009
|
|
NM_015166.4(MLC1):c.93C>T (p.Asp31=)
|
rs199625892
|
0.00009
|
|
NM_015311.3(OBSL1):c.342C>T (p.Ala114=)
|
rs760053992
|
0.00009
|
|
NM_015311.3(OBSL1):c.993C>A (p.Ala331=)
|
rs771686909
|
0.00009
|
|
NM_015386.3(COG4):c.2251G>A (p.Asp751Asn)
|
rs200083914
|
0.00009
|
|
NM_015629.4(PRPF31):c.1374+9C>T
|
rs727504108
|
0.00009
|
|
NM_015909.4(NBAS):c.1438T>C (p.Ser480Pro)
|
rs140555177
|
0.00009
|
|
NM_015909.4(NBAS):c.4302T>C (p.Asp1434=)
|
rs371633490
|
0.00009
|
|
NM_016239.4(MYO15A):c.10154T>C (p.Val3385Ala)
|
rs376432083
|
0.00009
|
|
NM_016239.4(MYO15A):c.1613G>A (p.Arg538His)
|
rs552189642
|
0.00009
|
|
NM_016239.4(MYO15A):c.8528A>G (p.Lys2843Arg)
|
rs201542989
|
0.00009
|
|
NM_016239.4(MYO15A):c.8816G>A (p.Arg2939His)
|
rs377389290
|
0.00009
|
|
NM_016366.3(CABP2):c.516C>T (p.Ile172=)
|
rs757281872
|
0.00009
|
|
NM_017433.5(MYO3A):c.610G>A (p.Asp204Asn)
|
rs3737274
|
0.00009
|
|
NM_017617.5(NOTCH1):c.1725C>T (p.Cys575=)
|
rs369070550
|
0.00009
|
|
NM_017636.4(TRPM4):c.2133-9C>G
|
rs530013543
|
0.00009
|
|
NM_017866.6(TMEM70):c.555T>G (p.Asn185Lys)
|
rs199655842
|
0.00009
|
|
NM_017882.3(CLN6):c.298-15C>T
|
rs368661456
|
0.00009
|
|
NM_018136.5(ASPM):c.2994G>A (p.Pro998=)
|
rs554545885
|
0.00009
|
|
NM_018249.6(CDK5RAP2):c.4338T>A (p.Ser1446Arg)
|
rs143341041
|
0.00009
|
|
NM_018714.3(COG1):c.1722C>T (p.Ser574=)
|
rs149888309
|
0.00009
|
|
NM_018979.4(WNK1):c.5714T>A (p.Val1905Glu)
|
rs759895083
|
0.00009
|
|
NM_019066.5(MAGEL2):c.474A>G (p.Pro158=)
|
rs750481560
|
0.00009
|
|
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter)
|
rs192448853
|
0.00009
|
|
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr)
|
rs187724945
|
0.00009
|
|
NM_020166.5(MCCC1):c.294C>T (p.Ile98=)
|
rs368288499
|
0.00009
|
|
NM_020458.4(TTC7A):c.1570G>T (p.Ala524Ser)
|
rs201008860
|
0.00009
|
|
NM_020533.3(MCOLN1):c.1179G>A (p.Ser393=)
|
rs201232288
|
0.00009
|
|
NM_020533.3(MCOLN1):c.213C>T (p.Val71=)
|
rs201157863
|
0.00009
|
|
NM_020549.5(CHAT):c.964C>T (p.Arg322Cys)
|
rs147815999
|
0.00009
|
|
NM_020686.6(ABAT):c.1158G>A (p.Pro386=)
|
rs374865268
|
0.00009
|
|
NM_020686.6(ABAT):c.26G>A (p.Arg9His)
|
rs531783337
|
0.00009
|
|
NM_020821.3(VPS13C):c.864A>G (p.Ile288Met)
|
rs751295864
|
0.00009
|
|
NM_020987.5(ANK3):c.4314A>G (p.Ala1438=)
|
rs199845615
|
0.00009
|
|
NM_021076.4(NEFH):c.256G>A (p.Gly86Ser)
|
rs918913612
|
0.00009
|
|
NM_021784.5(FOXA2):c.1001C>T (p.Ala334Val)
|
rs199796119
|
0.00009
|
|
NM_021803.4(IL21):c.127A>T (p.Ile43Leu)
|
rs374097344
|
0.00009
|
|
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser)
|
rs552241929
|
0.00009
|
|
NM_022042.4(SLC26A1):c.747G>A (p.Trp249Ter)
|
rs536555705
|
0.00009
|
|
NM_022081.6(HPS4):c.373C>G (p.Leu125Val)
|
rs180729981
|
0.00009
|
|
NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu)
|
rs372995036
|
0.00009
|
|
NM_022089.4(ATP13A2):c.35C>T (p.Thr12Met)
|
rs151117874
|
0.00009
|
|
NM_022098.4(XPNPEP3):c.388C>G (p.Pro130Ala)
|
rs199693203
|
0.00009
|
|
NM_022098.4(XPNPEP3):c.792+13T>C
|
rs376777685
|
0.00009
|
|
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
|
rs188376296
|
0.00009
|
|
NM_022124.6(CDH23):c.2394C>T (p.Thr798=)
|
rs373269394
|
0.00009
|
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520
|
0.00009
|
|
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His)
|
rs200251748
|
0.00009
|
|
NM_023036.6(DNAI2):c.1698C>T (p.Asp566=)
|
rs142710343
|
0.00009
|
|
NM_024105.4(ALG12):c.243G>A (p.Ala81=)
|
rs564172046
|
0.00009
|
|
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)
|
rs515726072
|
0.00009
|
|
NM_024675.4(PALB2):c.344G>T (p.Gly115Val)
|
rs145598272
|
0.00009
|
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
|
NM_024753.5(TTC21B):c.1883G>A (p.Arg628His)
|
rs139653847
|
0.00009
|
|
NM_025000.4(DCAF17):c.192A>G (p.Gly64=)
|
rs200189652
|
0.00009
|
|
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln)
|
rs775779700
|
0.00009
|
|
NM_025137.4(SPG11):c.1457-4A>G
|
rs773844127
|
0.00009
|
|
NM_025137.4(SPG11):c.6278G>A (p.Arg2093His)
|
rs376817637
|
0.00009
|
|
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile)
|
rs780569649
|
0.00009
|
|
NM_031433.4(MFRP):c.897G>A (p.Ser299=)
|
rs150284394
|
0.00009
|
|
NM_031475.3(ESPN):c.2406-4C>T
|
rs148975469
|
0.00009
|
|
NM_032119.4(ADGRV1):c.10873C>G (p.Leu3625Val)
|
rs761066341
|
0.00009
|
|
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr)
|
rs375632680
|
0.00009
|
|
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=)
|
rs375062187
|
0.00009
|
|
NM_032119.4(ADGRV1):c.16079-11C>G
|
rs374007277
|
0.00009
|
|
NM_032119.4(ADGRV1):c.16874C>T (p.Ser5625Leu)
|
rs373862154
|
0.00009
|
|
NM_032119.4(ADGRV1):c.4681G>A (p.Ala1561Thr)
|
rs376316770
|
0.00009
|
|
NM_032119.4(ADGRV1):c.6938C>T (p.Pro2313Leu)
|
rs199571511
|
0.00009
|
|
NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu)
|
rs200179979
|
0.00009
|
|
NM_032119.4(ADGRV1):c.8779G>A (p.Val2927Ile)
|
rs547397177
|
0.00009
|
|
NM_032119.4(ADGRV1):c.8995C>G (p.Gln2999Glu)
|
rs200503628
|
0.00009
|
|
NM_032737.4(LMNB2):c.1553C>T (p.Thr518Met)
|
rs368745985
|
0.00009
|
|
NM_052845.4(MMAB):c.387G>A (p.Ala129=)
|
rs549807022
|
0.00009
|
|
NM_052845.4(MMAB):c.561C>T (p.Ala187=)
|
rs370773720
|
0.00009
|
|
NM_052867.4(NALCN):c.883C>T (p.Arg295Cys)
|
rs372035044
|
0.00009
|
|
NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=)
|
rs374665486
|
0.00009
|
|
NM_130837.3(OPA1):c.2099A>G (p.Asn700Ser)
|
rs142694017
|
0.00009
|
|
NM_130837.3(OPA1):c.790-4T>A
|
rs374509936
|
0.00009
|
|
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser)
|
rs139928148
|
0.00009
|
|
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=)
|
rs749296628
|
0.00009
|
|
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala)
|
rs562503637
|
0.00009
|
|
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met)
|
rs140608845
|
0.00009
|
|
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg)
|
rs145789167
|
0.00009
|
|
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=)
|
rs146531432
|
0.00009
|
|
NM_138694.4(PKHD1):c.6924C>T (p.Ala2308=)
|
rs373795139
|
0.00009
|
|
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)
|
rs760710708
|
0.00009
|
|
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=)
|
rs371508721
|
0.00009
|
|
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=)
|
rs754654892
|
0.00009
|
|
NM_139242.4(MTFMT):c.1094G>A (p.Cys365Tyr)
|
rs190189891
|
0.00009
|
|
NM_152296.5(ATP1A3):c.607-7C>A
|
rs782819736
|
0.00009
|
|
NM_152383.5(DIS3L2):c.210+10A>G
|
rs201117797
|
0.00009
|
|
NM_152564.5(VPS13B):c.10868-7G>A
|
rs376141593
|
0.00009
|
|
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile)
|
rs117934093
|
0.00009
|
|
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val)
|
rs142110082
|
0.00009
|
|
NM_152783.5(D2HGDH):c.567G>A (p.Pro189=)
|
rs140447217
|
0.00009
|
|
NM_153676.4(USH1C):c.2566G>A (p.Val856Ile)
|
rs201308481
|
0.00009
|
|
NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu)
|
rs371856107
|
0.00009
|
|
NM_170682.4(P2RX2):c.1133T>C (p.Phe378Ser)
|
rs143626910
|
0.00009
|
|
NM_172250.3(MMAA):c.440-6C>T
|
rs374784209
|
0.00009
|
|
NM_173076.3(ABCA12):c.1446A>C (p.Glu482Asp)
|
rs368135271
|
0.00009
|
|
NM_175914.5(HNF4A):c.427-5C>T
|
rs374703326
|
0.00009
|
|
NM_182914.3(SYNE2):c.18550C>T (p.Arg6184Trp)
|
rs761998546
|
0.00009
|
|
NM_183075.3(CYP2U1):c.629T>C (p.Met210Thr)
|
rs143913941
|
0.00009
|
|
NM_194248.3(OTOF):c.337T>C (p.Cys113Arg)
|
rs146615166
|
0.00009
|
|
NM_194248.3(OTOF):c.3746G>A (p.Arg1249Gln)
|
rs200312028
|
0.00009
|
|
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln)
|
rs80356601
|
0.00009
|
|
NM_194248.3(OTOF):c.4820G>A (p.Arg1607Gln)
|
rs141800430
|
0.00009
|
|
NM_198578.4(LRRK2):c.3960G>T (p.Arg1320Ser)
|
rs77018758
|
0.00009
|
|
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu)
|
rs78324544
|
0.00009
|
|
NM_199242.3(UNC13D):c.2553+12G>A
|
rs560520169
|
0.00009
|
|
NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr)
|
rs114630940
|
0.00009
|
|
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile)
|
rs727504307
|
0.00009
|
|
NM_206933.4(USH2A):c.11013T>G (p.Pro3671=)
|
rs777699434
|
0.00009
|
|
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn)
|
rs764124390
|
0.00009
|
|
NM_206933.4(USH2A):c.6537T>C (p.Tyr2179=)
|
rs768759268
|
0.00009
|
|
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln)
|
rs780020144
|
0.00009
|
|
NM_206933.4(USH2A):c.9614G>A (p.Arg3205His)
|
rs200726531
|
0.00009
|
|
NM_213655.5(WNK1):c.3107C>T (p.Ala1036Val)
|
rs187534119
|
0.00009
|
|
NM_000018.4(ACADVL):c.1182+17C>A
|
rs191276923
|
0.00008
|
|
NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln)
|
rs781874815
|
0.00008
|
|
NM_000036.2(AMPD1):c.24T>C (p.Ser8=)
|
rs377496676
|
0.00008
|
|
NM_000037.4(ANK1):c.1859G>A (p.Ser620Asn)
|
rs750068521
|
0.00008
|
|
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)
|
rs367905430
|
0.00008
|
|
NM_000048.4(ASL):c.1342G>A (p.Val448Ile)
|
rs139410488
|
0.00008
|
|
NM_000048.4(ASL):c.72C>T (p.Phe24=)
|
rs760059034
|
0.00008
|
|
NM_000049.4(ASPA):c.237-6T>C
|
rs370219865
|
0.00008
|
|
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)
|
rs200431631
|
0.00008
|
|
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)
|
rs587779867
|
0.00008
|
|
NM_000057.4(BLM):c.664G>A (p.Glu222Lys)
|
rs774075577
|
0.00008
|
|
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln)
|
rs372436488
|
0.00008
|
|
NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln)
|
rs146403258
|
0.00008
|
|
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile)
|
rs199672291
|
0.00008
|
|
NM_000092.5(COL4A4):c.1460-6G>A
|
rs771213140
|
0.00008
|
|
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys)
|
rs200973262
|
0.00008
|
|
NM_000094.4(COL7A1):c.1604C>A (p.Thr535Asn)
|
rs200868430
|
0.00008
|
|
NM_000094.4(COL7A1):c.5459C>G (p.Pro1820Arg)
|
rs143037856
|
0.00008
|
|
NM_000094.4(COL7A1):c.7037G>A (p.Arg2346His)
|
rs201432371
|
0.00008
|
|
NM_000124.4(ERCC6):c.4143C>T (p.Ser1381=)
|
rs375921453
|
0.00008
|
|
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser)
|
rs367880372
|
0.00008
|
|
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)
|
rs199601218
|
0.00008
|
|
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr)
|
rs185984960
|
0.00008
|
|
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu)
|
rs201156527
|
0.00008
|
|
NM_000142.5(FGFR3):c.335G>A (p.Arg112Gln)
|
rs758163128
|
0.00008
|
|
NM_000142.5(FGFR3):c.707G>A (p.Ser236Asn)
|
rs200495316
|
0.00008
|
|
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)
|
rs2229224
|
0.00008
|
|
NM_000152.5(GAA):c.2041-4G>T
|
rs775757700
|
0.00008
|
|
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)
|
rs758390382
|
0.00008
|
|
NM_000159.4(GCDH):c.1299G>A (p.Ala433=)
|
rs150271870
|
0.00008
|
|
NM_000208.4(INSR):c.2256C>G (p.Ala752=)
|
rs376497490
|
0.00008
|
|
NM_000208.4(INSR):c.2598C>T (p.Val866=)
|
rs797045625
|
0.00008
|
|
NM_000215.4(JAK3):c.362G>A (p.Arg121His)
|
rs143586866
|
0.00008
|
|
NM_000233.4(LHCGR):c.1169A>G (p.Lys390Arg)
|
rs549696399
|
0.00008
|
|
NM_000243.3(MEFV):c.765A>G (p.Ala255=)
|
rs771714168
|
0.00008
|
|
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys)
|
rs375998275
|
0.00008
|
|
NM_000277.3(PAH):c.1140G>A (p.Thr380=)
|
rs373763334
|
0.00008
|
|
NM_000282.4(PCCA):c.490A>G (p.Ile164Val)
|
rs539693612
|
0.00008
|
|
NM_000293.3(PHKB):c.932T>C (p.Val311Ala)
|
rs149685822
|
0.00008
|
|
NM_000312.4(PROC):c.678+10G>A
|
rs776905824
|
0.00008
|
|
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu)
|
rs199473638
|
0.00008
|
|
NM_000346.4(SOX9):c.685+7C>T
|
rs370951695
|
0.00008
|
|
NM_000350.3(ABCA4):c.673G>A (p.Val225Met)
|
rs540124349
|
0.00008
|
|
NM_000355.4(TCN2):c.424A>G (p.Ile142Val)
|
rs200771616
|
0.00008
|
|
NM_000360.4(TH):c.685A>T (p.Ile229Phe)
|
rs778613708
|
0.00008
|
|
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr)
|
rs765695557
|
0.00008
|
|
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser)
|
rs537585211
|
0.00008
|
|
NM_000400.4(ERCC2):c.428G>A (p.Arg143Gln)
|
rs150000483
|
0.00008
|
|
NM_000417.3(IL2RA):c.584-11C>T
|
rs750468923
|
0.00008
|
|
NM_000417.3(IL2RA):c.693G>A (p.Glu231=)
|
rs139266750
|
0.00008
|
|
NM_000419.5(ITGA2B):c.671-15T>C
|
rs200877591
|
0.00008
|
|
NM_000426.4(LAMA2):c.4075A>G (p.Met1359Val)
|
rs749372185
|
0.00008
|
|
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn)
|
rs372592018
|
0.00008
|
|
NM_000435.3(NOTCH3):c.3785G>T (p.Arg1262Leu)
|
rs143684274
|
0.00008
|
|
NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=)
|
rs368458295
|
0.00008
|
|
NM_000455.5(STK11):c.920+5G>A
|
rs587780013
|
0.00008
|
|
NM_000466.3(PEX1):c.3637-14T>C
|
rs745612436
|
0.00008
|
|
NM_000489.6(ATRX):c.7435A>G (p.Met2479Val)
|
rs200478641
|
0.00008
|
|
NM_000520.6(HEXA):c.855C>T (p.Gly285=)
|
rs768518776
|
0.00008
|
|
NM_000527.5(LDLR):c.1580T>C (p.Val527Ala)
|
rs730882107
|
0.00008
|
|
NM_000528.4(MAN2B1):c.2020C>T (p.Arg674Cys)
|
rs770791374
|
0.00008
|
|
NM_000528.4(MAN2B1):c.274A>G (p.Ile92Val)
|
rs751849414
|
0.00008
|
|
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=)
|
rs142797984
|
0.00008
|
|
NM_000532.5(PCCB):c.561C>T (p.Ser187=)
|
rs145057852
|
0.00008
|
|
NM_000540.3(RYR1):c.11412C>T (p.Leu3804=)
|
rs376851030
|
0.00008
|
|
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)
|
rs142548565
|
0.00008
|
|
NM_000540.3(RYR1):c.2712G>A (p.Pro904=)
|
rs139339574
|
0.00008
|
|
NM_000540.3(RYR1):c.5289G>A (p.Pro1763=)
|
rs376482004
|
0.00008
|
|
NM_000540.3(RYR1):c.8310+10A>G
|
rs372730488
|
0.00008
|
|
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=)
|
rs368684717
|
0.00008
|
|
NM_000558.5(HBA1):c.250C>T (p.Leu84=)
|
rs754145030
|
0.00008
|
|
NM_000642.3(AGL):c.3290G>A (p.Arg1097His)
|
rs185947256
|
0.00008
|
|
NM_000751.3(CHRND):c.411C>T (p.Gly137=)
|
rs373578965
|
0.00008
|
|
NM_000787.4(DBH):c.1599G>A (p.Ala533=)
|
rs377563744
|
0.00008
|
|
NM_000787.4(DBH):c.624C>T (p.Pro208=)
|
rs75942058
|
0.00008
|
|
NM_000843.4(GRM6):c.588C>T (p.Pro196=)
|
rs756171835
|
0.00008
|
|
NM_001005242.3(PKP2):c.1379-2038T>C
|
rs781397552
|
0.00008
|
|
NM_001025616.3(ARHGAP24):c.1916G>A (p.Ser639Asn)
|
rs200213078
|
0.00008
|
|
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His)
|
rs371157286
|
0.00008
|
|
NM_001035.3(RYR2):c.684C>T (p.Leu228=)
|
rs72549417
|
0.00008
|
|
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=)
|
rs376057173
|
0.00008
|
|
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)
|
rs372601642
|
0.00008
|
|
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)
|
rs147718169
|
0.00008
|
|
NM_001080517.3(SETD5):c.2462G>A (p.Cys821Tyr)
|
rs376767548
|
0.00008
|
|
NM_001083961.2(WDR62):c.4122C>T (p.Gly1374=)
|
rs773948810
|
0.00008
|
|
NM_001099922.3(ALG13):c.621A>T (p.Gly207=)
|
rs371428241
|
0.00008
|
|
NM_001113491.2(SEPTIN9):c.385C>T (p.Arg129Trp)
|
rs201442609
|
0.00008
|
|
NM_001114753.3(ENG):c.1098C>T (p.Asp366=)
|
rs201497772
|
0.00008
|
|
NM_001114753.3(ENG):c.1852+21C>G
|
rs147188969
|
0.00008
|
|
NM_001126108.2(SLC12A3):c.1710G>A (p.Ala570=)
|
rs387907471
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr)
|
rs201269793
|
0.00008
|
|
NM_001127671.2(LIFR):c.2937G>A (p.Ser979=)
|
rs201711670
|
0.00008
|
|
NM_001128840.3(CACNA1D):c.1722G>A (p.Met574Ile)
|
rs373740752
|
0.00008
|
|
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)
|
rs375798246
|
0.00008
|
|
NM_001134363.3(RBM20):c.3549C>T (p.Ser1183=)
|
rs575854668
|
0.00008
|
|
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys)
|
rs757389650
|
0.00008
|
|
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)
|
rs187423999
|
0.00008
|
|
NM_001136271.3(NKX2-6):c.276G>A (p.Gln92=)
|
rs768775204
|
0.00008
|
|
NM_001142800.2(EYS):c.4392G>T (p.Gly1464=)
|
rs745673114
|
0.00008
|
|
NM_001146079.2(CLDN14):c.321C>T (p.Cys107=)
|
rs764548516
|
0.00008
|
|
NM_001164507.2(NEB):c.21396C>T (p.Thr7132=)
|
rs759637718
|
0.00008
|
|
NM_001164508.2(NEB):c.17203G>A (p.Ala5735Thr)
|
rs202111641
|
0.00008
|
|
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser)
|
rs751724804
|
0.00008
|
|
NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp)
|
rs200559481
|
0.00008
|
|
NM_001164508.2(NEB):c.3416C>T (p.Thr1139Met)
|
rs181244403
|
0.00008
|
|
NM_001164508.2(NEB):c.4431T>C (p.Asp1477=)
|
rs140558263
|
0.00008
|
|
NM_001164508.2(NEB):c.8039G>A (p.Arg2680Gln)
|
rs201746137
|
0.00008
|
|
NM_001164508.2(NEB):c.9619-9C>T
|
rs778009768
|
0.00008
|
|
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)
|
rs121917973
|
0.00008
|
|
NM_001170629.2(CHD8):c.5662T>C (p.Tyr1888His)
|
rs373607095
|
0.00008
|
|
NM_001242957.3(MAK):c.492-4A>G
|
rs540144059
|
0.00008
|
|
NM_001277115.2(DNAH11):c.10867A>G (p.Ile3623Val)
|
rs370443558
|
0.00008
|
|
NM_001277115.2(DNAH11):c.11081A>T (p.Asn3694Ile)
|
rs528354205
|
0.00008
|
|
NM_001277115.2(DNAH11):c.3356G>A (p.Ser1119Asn)
|
rs754921505
|
0.00008
|
|
NM_001277115.2(DNAH11):c.4012-8G>A
|
rs374349753
|
0.00008
|
|
NM_001287.6(CLCN7):c.1155C>T (p.Gly385=)
|
rs771365308
|
0.00008
|
|
NM_001292063.2(OTOG):c.450A>G (p.Thr150=)
|
rs779238030
|
0.00008
|
|
NM_001330078.2(NRXN1):c.3364+9C>T
|
rs200767650
|
0.00008
|
|
NM_001349338.3(FOXP1):c.1135G>A (p.Ala379Thr)
|
rs149759021
|
0.00008
|
|
NM_001355436.2(SPTB):c.3624G>A (p.Arg1208=)
|
rs200385949
|
0.00008
|
|
NM_001355436.2(SPTB):c.3780C>T (p.Asn1260=)
|
rs191583247
|
0.00008
|
|
NM_001363711.2(DUOX2):c.1189C>A (p.Gln397Lys)
|
rs200989933
|
0.00008
|
|
NM_001365304.2(LOC112694756):c.*622-5C>T
|
rs752764982
|
0.00008
|
|
NM_001365999.1(SZT2):c.4188C>T (p.Ser1396=)
|
rs138401303
|
0.00008
|
|
NM_001365999.1(SZT2):c.5377G>A (p.Glu1793Lys)
|
rs143185010
|
0.00008
|
|
NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu)
|
rs769853271
|
0.00008
|
|
NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=)
|
rs199735129
|
0.00008
|
|
NM_001369.3(DNAH5):c.2471T>C (p.Ile824Thr)
|
rs147108941
|
0.00008
|
|
NM_001369.3(DNAH5):c.3428G>A (p.Arg1143His)
|
rs150739124
|
0.00008
|
|
NM_001369.3(DNAH5):c.4133T>C (p.Ile1378Thr)
|
rs536502106
|
0.00008
|
|
NM_001369.3(DNAH5):c.7888-4A>G
|
rs775268409
|
0.00008
|
|
NM_001369.3(DNAH5):c.946C>T (p.Leu316Phe)
|
rs201706790
|
0.00008
|
|
NM_001374828.1(ARID1B):c.1337C>T (p.Ala446Val)
|
rs748273011
|
0.00008
|
|
NM_001375808.2(LPIN2):c.1395C>T (p.Asp465=)
|
rs143562359
|
0.00008
|
|
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser)
|
rs201575292
|
0.00008
|
|
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=)
|
rs202004938
|
0.00008
|
|
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=)
|
rs531438720
|
0.00008
|
|
NM_001376256.1(CRYM):c.474G>A (p.Gln158=)
|
rs371633413
|
0.00008
|
|
NM_001395413.1(POR):c.1944T>G (p.Ala648=)
|
rs370865328
|
0.00008
|
|
NM_001457.4(FLNB):c.5348C>T (p.Thr1783Met)
|
rs189785975
|
0.00008
|
|
NM_001457.4(FLNB):c.6210C>T (p.Ile2070=)
|
rs538937637
|
0.00008
|
|
NM_001457.4(FLNB):c.6666C>T (p.Gly2222=)
|
rs144628013
|
0.00008
|
|
NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu)
|
rs745650222
|
0.00008
|
|
NM_001793.6(CDH3):c.2475C>T (p.Gly825=)
|
rs543214840
|
0.00008
|
|
NM_001844.5(COL2A1):c.2307C>T (p.Asp769=)
|
rs145023922
|
0.00008
|
|
NM_001844.5(COL2A1):c.410G>A (p.Arg137His)
|
rs201675352
|
0.00008
|
|
NM_001853.4(COL9A3):c.332C>T (p.Pro111Leu)
|
rs368744467
|
0.00008
|
|
NM_001853.4(COL9A3):c.931G>A (p.Val311Met)
|
rs546308741
|
0.00008
|
|
NM_001854.4(COL11A1):c.3967C>A (p.Pro1323Thr)
|
rs377044024
|
0.00008
|
|
NM_001875.5(CPS1):c.528+9A>G
|
rs369476447
|
0.00008
|
|
NM_001903.5(CTNNA1):c.2559C>T (p.Asn853=)
|
rs374540412
|
0.00008
|
|
NM_001953.5(TYMP):c.1137G>A (p.Glu379=)
|
rs764142194
|
0.00008
|
|
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=)
|
rs368506842
|
0.00008
|
|
NM_002156.5(HSPD1):c.175-7C>T
|
rs374694909
|
0.00008
|
|
NM_002234.4(KCNA5):c.544G>A (p.Gly182Arg)
|
rs755408841
|
0.00008
|
|
NM_002292.4(LAMB2):c.2489-7C>T
|
rs374958213
|
0.00008
|
|
NM_002427.4(MMP13):c.443T>A (p.Val148Glu)
|
rs374419716
|
0.00008
|
|
NM_002470.4(MYH3):c.4987C>T (p.Arg1663Trp)
|
rs777159320
|
0.00008
|
|
NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp)
|
rs527571090
|
0.00008
|
|
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met)
|
rs748516947
|
0.00008
|
|
NM_002529.4(NTRK1):c.509T>C (p.Val170Ala)
|
rs201503610
|
0.00008
|
|
NM_002529.4(NTRK1):c.824A>C (p.Glu275Ala)
|
rs138533001
|
0.00008
|
|
NM_002546.4(TNFRSF11B):c.69G>A (p.Thr23=)
|
rs146450643
|
0.00008
|
|
NM_003036.4(SKI):c.1109T>C (p.Val370Ala)
|
rs138088528
|
0.00008
|
|
NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser)
|
rs138129490
|
0.00008
|
|
NM_003070.5(SMARCA2):c.915C>G (p.Pro305=)
|
rs981565985
|
0.00008
|
|
NM_003119.4(SPG7):c.2083C>G (p.Leu695Val)
|
rs754203248
|
0.00008
|
|
NM_003331.5(TYK2):c.372T>C (p.Arg124=)
|
rs371832787
|
0.00008
|
|
NM_003331.5(TYK2):c.489C>T (p.Asp163=)
|
rs748475805
|
0.00008
|
|
NM_003331.5(TYK2):c.783C>G (p.Ala261=)
|
rs371939297
|
0.00008
|
|
NM_003482.4(KMT2D):c.11849A>G (p.Gln3950Arg)
|
rs751367935
|
0.00008
|
|
NM_003560.4(PLA2G6):c.895-11G>A
|
rs371094406
|
0.00008
|
|
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=)
|
rs1014304470
|
0.00008
|
|
NM_003742.4(ABCB11):c.279C>T (p.Tyr93=)
|
rs375137002
|
0.00008
|
|
NM_003849.4(SUCLG1):c.590-6G>A
|
rs200107730
|
0.00008
|
|
NM_003924.4(PHOX2B):c.729A>G (p.Ala243=)
|
rs751829128
|
0.00008
|
|
NM_003977.4(AIP):c.561C>T (p.Asn187=)
|
rs142037029
|
0.00008
|
|
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=)
|
rs367673752
|
0.00008
|
|
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile)
|
rs369055628
|
0.00008
|
|
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp)
|
rs387906874
|
0.00008
|
|
NM_004360.5(CDH1):c.164T>G (p.Val55Gly)
|
rs587778174
|
0.00008
|
|
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu)
|
rs144746928
|
0.00008
|
|
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser)
|
rs587783466
|
0.00008
|
|
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)
|
rs1431507005
|
0.00008
|
|
NM_004560.4(ROR2):c.1565G>A (p.Arg522Gln)
|
rs201986784
|
0.00008
|
|
NM_004820.5(CYP7B1):c.645T>C (p.Asp215=)
|
rs535511484
|
0.00008
|
|
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His)
|
rs767911747
|
0.00008
|
|
NM_005198.5(CHKB):c.708C>T (p.Val236=)
|
rs141934594
|
0.00008
|
|
NM_005327.7(HADH):c.240G>A (p.Lys80=)
|
rs748623569
|
0.00008
|
|
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)
|
rs373327413
|
0.00008
|
|
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met)
|
rs186780639
|
0.00008
|
|
NM_005529.7(HSPG2):c.1507+9G>A
|
rs371371189
|
0.00008
|
|
NM_005529.7(HSPG2):c.4413C>T (p.Pro1471=)
|
rs376929779
|
0.00008
|
|
NM_005609.4(PYGM):c.1110G>A (p.Val370=)
|
rs372719040
|
0.00008
|
|
NM_005732.4(RAD50):c.3769T>G (p.Ser1257Ala)
|
rs786201205
|
0.00008
|
|
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe)
|
rs201779762
|
0.00008
|
|
NM_005984.5(SLC25A1):c.526+7C>T
|
rs377553268
|
0.00008
|
|
NM_005993.5(TBCD):c.2178+5A>G
|
rs371823710
|
0.00008
|
|
NM_006017.3(PROM1):c.321A>C (p.Ala107=)
|
rs371975235
|
0.00008
|
|
NM_006019.4(TCIRG1):c.631-15_642dup
|
rs745521166
|
0.00008
|
|
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp)
|
rs543099977
|
0.00008
|
|
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=)
|
rs761995771
|
0.00008
|
|
NM_006059.4(LAMC3):c.2949C>T (p.Cys983=)
|
rs373660982
|
0.00008
|
|
NM_006261.5(PROP1):c.423C>T (p.Ala141=)
|
rs200977367
|
0.00008
|
|
NM_006348.5(COG5):c.768A>T (p.Leu256Phe)
|
rs376958885
|
0.00008
|
|
NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile)
|
rs746809573
|
0.00008
|
|
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=)
|
rs75852730
|
0.00008
|
|
NM_006946.4(SPTBN2):c.5383C>G (p.Gln1795Glu)
|
rs144465703
|
0.00008
|
|
NM_006949.4(STXBP2):c.333C>T (p.Pro111=)
|
rs144233139
|
0.00008
|
|
NM_007175.8(ERLIN2):c.384C>T (p.Cys128=)
|
rs200292614
|
0.00008
|
|
NM_007259.5(VPS45):c.1395G>A (p.Gln465=)
|
rs782595882
|
0.00008
|
|
NM_007375.4(TARDBP):c.36C>T (p.Asn12=)
|
rs565091566
|
0.00008
|
|
NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu)
|
rs185747820
|
0.00008
|
|
NM_012233.3(RAB3GAP1):c.724T>C (p.Tyr242His)
|
rs577915245
|
0.00008
|
|
NM_013247.5(HTRA2):c.1131A>G (p.Leu377=)
|
rs758108369
|
0.00008
|
|
NM_013275.6(ANKRD11):c.1360G>A (p.Val454Met)
|
rs149569330
|
0.00008
|
|
NM_013275.6(ANKRD11):c.3953C>G (p.Thr1318Ser)
|
rs570483616
|
0.00008
|
|
NM_014141.6(CNTNAP2):c.939+8T>A
|
rs199994339
|
0.00008
|
|
NM_014159.7(SETD2):c.148G>A (p.Ala50Thr)
|
rs191985301
|
0.00008
|
|
NM_014264.5(PLK4):c.1935+6G>A
|
rs56414190
|
0.00008
|
|
NM_014339.7(IL17RA):c.2466G>A (p.Gly822=)
|
rs373070776
|
0.00008
|
|
NM_014384.3(ACAD8):c.841+9C>T
|
rs777635296
|
0.00008
|
|
NM_014391.3(ANKRD1):c.751-4C>A
|
rs780419708
|
0.00008
|
|
NM_014780.5(CUL7):c.4482C>T (p.Ser1494=)
|
rs760462179
|
0.00008
|
|
NM_014855.3(AP5Z1):c.1938+11C>T
|
rs201888478
|
0.00008
|
|
NM_015662.3(IFT172):c.1983T>A (p.His661Gln)
|
rs150739354
|
0.00008
|
|
NM_016239.4(MYO15A):c.5830C>T (p.Arg1944Cys)
|
rs199968059
|
0.00008
|
|
NM_016580.4(PCDH12):c.1182C>A (p.Ser394Arg)
|
rs150994175
|
0.00008
|
|
NM_016580.4(PCDH12):c.2534C>T (p.Thr845Met)
|
rs368872362
|
0.00008
|
|
NM_017534.6(MYH2):c.4149G>A (p.Thr1383=)
|
rs376738763
|
0.00008
|
|
NM_017636.4(TRPM4):c.2020-4A>C
|
rs369498574
|
0.00008
|
|
NM_017636.4(TRPM4):c.2085C>T (p.Leu695=)
|
rs781191851
|
0.00008
|
|
NM_017636.4(TRPM4):c.286C>T (p.Arg96Ter)
|
rs148855956
|
0.00008
|
|
NM_018075.5(ANO10):c.397G>A (p.Glu133Lys)
|
rs571983239
|
0.00008
|
|
NM_018699.4(PRDM5):c.6G>T (p.Leu2=)
|
rs745891819
|
0.00008
|
|
NM_018896.5(CACNA1G):c.3246G>A (p.Glu1082=)
|
rs769342382
|
0.00008
|
|
NM_018941.4(CLN8):c.300G>A (p.Gln100=)
|
rs148988002
|
0.00008
|
|
NM_018979.4(WNK1):c.4130T>A (p.Val1377Glu)
|
rs574069625
|
0.00008
|
|
NM_020223.4(FAM20C):c.174C>A (p.Pro58=)
|
rs567930512
|
0.00008
|
|
NM_020247.5(COQ8A):c.1899C>T (p.Phe633=)
|
rs150569155
|
0.00008
|
|
NM_020247.5(COQ8A):c.794G>A (p.Arg265His)
|
rs199696414
|
0.00008
|
|
NM_020461.4(TUBGCP6):c.245T>G (p.Leu82Arg)
|
rs200360214
|
0.00008
|
|
NM_020549.5(CHAT):c.326C>T (p.Thr109Met)
|
rs542610160
|
0.00008
|
|
NM_021830.5(TWNK):c.1485G>A (p.Arg495=)
|
rs202197777
|
0.00008
|
|
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu)
|
rs566918264
|
0.00008
|
|
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)
|
rs111033509
|
0.00008
|
|
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=)
|
rs373768157
|
0.00008
|
|
NM_022437.3(ABCG8):c.1200G>A (p.Thr400=)
|
rs369131115
|
0.00008
|
|
NM_022437.3(ABCG8):c.1650G>A (p.Ala550=)
|
rs145754381
|
0.00008
|
|
NM_022437.3(ABCG8):c.694+5G>C
|
rs557890655
|
0.00008
|
|
NM_022455.5(NSD1):c.6259-8A>T
|
rs370529039
|
0.00008
|
|
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val)
|
rs398124386
|
0.00008
|
|
NM_022489.4(INF2):c.3157G>A (p.Val1053Met)
|
rs760721935
|
0.00008
|
|
NM_023036.6(DNAI2):c.855G>A (p.Thr285=)
|
rs144909415
|
0.00008
|
|
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala)
|
rs376619846
|
0.00008
|
|
NM_024915.4(GRHL2):c.303T>A (p.Ser101Arg)
|
rs140106332
|
0.00008
|
|
NM_025000.4(DCAF17):c.27G>A (p.Val9=)
|
rs570110822
|
0.00008
|
|
NM_025074.7(FRAS1):c.1503C>T (p.Asp501=)
|
rs370655417
|
0.00008
|
|
NM_025099.6(CTC1):c.1946-6C>T
|
rs369285521
|
0.00008
|
|
NM_025099.6(CTC1):c.195T>C (p.Tyr65=)
|
rs764616648
|
0.00008
|
|
NM_025137.4(SPG11):c.1602+10T>G
|
rs201535432
|
0.00008
|
|
NM_031372.4(HNRNPDL):c.314C>T (p.Thr105Ile)
|
rs763175161
|
0.00008
|
|
NM_031433.4(MFRP):c.705C>T (p.Phe235=)
|
rs34190279
|
0.00008
|
|
NM_031433.4(MFRP):c.861C>T (p.Asp287=)
|
rs140710522
|
0.00008
|
|
NM_032119.4(ADGRV1):c.15113T>C (p.Ile5038Thr)
|
rs192561791
|
0.00008
|
|
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg)
|
rs369717492
|
0.00008
|
|
NM_032119.4(ADGRV1):c.2483T>C (p.Val828Ala)
|
rs757135353
|
0.00008
|
|
NM_033109.5(PNPT1):c.1771A>C (p.Lys591Gln)
|
rs542676905
|
0.00008
|
|
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser)
|
rs748876393
|
0.00008
|
|
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)
|
rs104886270
|
0.00008
|
|
NM_052845.4(MMAB):c.584+15G>A
|
rs750655720
|
0.00008
|
|
NM_052845.4(MMAB):c.644+7G>A
|
rs147637814
|
0.00008
|
|
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)
|
rs142447736
|
0.00008
|
|
NM_052989.3(IFT122):c.2721G>A (p.Ala907=)
|
rs371570973
|
0.00008
|
|
NM_053025.4(MYLK):c.1212C>A (p.Pro404=)
|
rs765597431
|
0.00008
|
|
NM_053025.4(MYLK):c.3897C>T (p.Ala1299=)
|
rs553472487
|
0.00008
|
|
NM_080669.6(SLC46A1):c.85G>A (p.Val29Ile)
|
rs41297067
|
0.00008
|
|
NM_080680.3(COL11A2):c.1489C>T (p.Arg497Cys)
|
rs752552097
|
0.00008
|
|
NM_080680.3(COL11A2):c.2326C>T (p.Arg776Cys)
|
rs776701792
|
0.00008
|
|
NM_130837.3(OPA1):c.2636G>A (p.Arg879Gln)
|
rs200412464
|
0.00008
|
|
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=)
|
rs147865925
|
0.00008
|
|
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn)
|
rs373255125
|
0.00008
|
|
NM_152383.5(DIS3L2):c.1205-12G>A
|
rs779551518
|
0.00008
|
|
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln)
|
rs141566041
|
0.00008
|
|
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=)
|
rs182347753
|
0.00008
|
|
NM_153006.3(NAGS):c.722T>C (p.Val241Ala)
|
rs201142696
|
0.00008
|
|
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter)
|
rs767767573
|
0.00008
|
|
NM_182914.3(SYNE2):c.16912G>A (p.Glu5638Lys)
|
rs751734028
|
0.00008
|
|
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met)
|
rs370691004
|
0.00008
|
|
NM_194248.3(OTOF):c.843C>T (p.Asp281=)
|
rs368728682
|
0.00008
|
|
NM_194277.3(FRMD7):c.892A>G (p.Ser298Gly)
|
rs368404774
|
0.00008
|
|
NM_198525.3(KIF7):c.3225G>A (p.Ser1075=)
|
rs375802364
|
0.00008
|
|
NM_205850.3(SLC24A5):c.534G>A (p.Ala178=)
|
rs138902406
|
0.00008
|
|
NM_206933.4(USH2A):c.11008G>A (p.Glu3670Lys)
|
rs140548353
|
0.00008
|
|
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys)
|
rs372966682
|
0.00008
|
|
NM_206933.4(USH2A):c.7168G>A (p.Gly2390Arg)
|
rs376983577
|
0.00008
|
|
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)
|
rs140561784
|
0.00008
|
|
NM_207346.3(TSEN54):c.1314-20G>A
|
rs377740590
|
0.00008
|
|
NM_000017.4(ACADS):c.327C>T (p.Cys109=)
|
rs144083614
|
0.00007
|
|
NM_000018.4(ACADVL):c.205-7T>C
|
rs760625298
|
0.00007
|
|
NM_000018.4(ACADVL):c.205-8C>G
|
rs774353448
|
0.00007
|
|
NM_000019.4(ACAT1):c.239-8T>A
|
rs202030208
|
0.00007
|
|
NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn)
|
rs376789465
|
0.00007
|
|
NM_000038.6(APC):c.1408+3A>G
|
rs534358523
|
0.00007
|
|
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg)
|
rs587779804
|
0.00007
|
|
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)
|
rs145444830
|
0.00007
|
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
|
NM_000051.4(ATM):c.125A>G (p.His42Arg)
|
rs201773026
|
0.00007
|
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
|
NM_000051.4(ATM):c.496+4T>C
|
rs587781375
|
0.00007
|
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
|
NM_000069.3(CACNA1S):c.3454A>G (p.Ile1152Val)
|
rs142286187
|
0.00007
|
|
NM_000069.3(CACNA1S):c.700G>A (p.Val234Met)
|
rs370661912
|
0.00007
|
|
NM_000071.3(CBS):c.888G>A (p.Thr296=)
|
rs769593715
|
0.00007
|
|
NM_000078.3(CETP):c.89G>A (p.Cys30Tyr)
|
rs771585518
|
0.00007
|
|
NM_000091.5(COL4A3):c.599C>T (p.Pro200Leu)
|
rs368480491
|
0.00007
|
|
NM_000098.3(CPT2):c.1202G>T (p.Ser401Ile)
|
rs146670074
|
0.00007
|
|
NM_000098.3(CPT2):c.846C>T (p.Pro282=)
|
rs138855128
|
0.00007
|
|
NM_000098.3(CPT2):c.84C>T (p.Gly28=)
|
rs772541454
|
0.00007
|
|
NM_000100.4(CSTB):c.45G>A (p.Glu15=)
|
rs1057521317
|
0.00007
|
|
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile)
|
rs369437807
|
0.00007
|
|
NM_000128.4(F11):c.1200G>A (p.Pro400=)
|
rs150377265
|
0.00007
|
|
NM_000135.4(FANCA):c.1225+14C>T
|
rs376558078
|
0.00007
|
|
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val)
|
rs755925068
|
0.00007
|
|
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile)
|
rs200922390
|
0.00007
|
|
NM_000135.4(FANCA):c.2222+7G>A
|
rs374312736
|
0.00007
|
|
NM_000135.4(FANCA):c.265C>T (p.His89Tyr)
|
rs746125523
|
0.00007
|
|
NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser)
|
rs757175768
|
0.00007
|
|
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn)
|
rs148419748
|
0.00007
|
|
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu)
|
rs555519520
|
0.00007
|
|
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile)
|
rs142912485
|
0.00007
|
|
NM_000141.5(FGFR2):c.2124C>T (p.Pro708=)
|
rs140813163
|
0.00007
|
|
NM_000178.4(GSS):c.1126G>A (p.Gly376Arg)
|
rs146267300
|
0.00007
|
|
NM_000199.5(SGSH):c.720C>T (p.Tyr240=)
|
rs367654527
|
0.00007
|
|
NM_000204.5(CFI):c.616T>A (p.Tyr206Asn)
|
rs371623439
|
0.00007
|
|
NM_000211.5(ITGB2):c.2283C>T (p.Val761=)
|
rs192197684
|
0.00007
|
|
NM_000215.4(JAK3):c.2681-11G>T
|
rs201970522
|
0.00007
|
|
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met)
|
rs144917638
|
0.00007
|
|
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu)
|
rs199472864
|
0.00007
|
|
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp)
|
rs575678784
|
0.00007
|
|
NM_000246.4(CIITA):c.1683C>T (p.Asp561=)
|
rs76686583
|
0.00007
|
|
NM_000246.4(CIITA):c.1731C>T (p.Tyr577=)
|
rs142848848
|
0.00007
|
|
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)
|
rs267607939
|
0.00007
|
|
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr)
|
rs375253473
|
0.00007
|
|
NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr)
|
rs782787324
|
0.00007
|
|
NM_000260.4(MYO7A):c.5480+10G>A
|
rs768513428
|
0.00007
|
|
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met)
|
rs587778629
|
0.00007
|
|
NM_000277.3(PAH):c.*144A>G
|
rs375319584
|
0.00007
|
|
NM_000283.4(PDE6B):c.1258-10T>A
|
rs727504074
|
0.00007
|
|
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp)
|
rs193253559
|
0.00007
|
|
NM_000295.5(SERPINA1):c.967C>T (p.Leu323=)
|
rs150455534
|
0.00007
|
|
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala)
|
rs149946271
|
0.00007
|
|
NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr)
|
rs201611359
|
0.00007
|
|
NM_000343.4(SLC5A1):c.1524C>T (p.Thr508=)
|
rs201895474
|
0.00007
|
|
NM_000350.3(ABCA4):c.2517C>T (p.Ser839=)
|
rs138246242
|
0.00007
|
|
NM_000362.5(TIMP3):c.321C>T (p.Arg107=)
|
rs145553035
|
0.00007
|
|
NM_000376.3(VDR):c.238C>A (p.Arg80=)
|
rs387907554
|
0.00007
|
|
NM_000383.4(AIRE):c.1095+10C>T
|
rs372932833
|
0.00007
|
|
NM_000383.4(AIRE):c.1323G>A (p.Thr441=)
|
rs201945690
|
0.00007
|
|
NM_000384.3(APOB):c.2938G>A (p.Ala980Thr)
|
rs369310292
|
0.00007
|
|
NM_000384.3(APOB):c.5600G>A (p.Arg1867Gln)
|
rs371337253
|
0.00007
|
|
NM_000384.3(APOB):c.6655C>T (p.Arg2219Cys)
|
rs141641980
|
0.00007
|
|
NM_000384.3(APOB):c.9491C>T (p.Thr3164Met)
|
rs143269114
|
0.00007
|
|
NM_000391.4(TPP1):c.1323C>T (p.Tyr441=)
|
rs757548236
|
0.00007
|
|
NM_000392.5(ABCC2):c.3379G>A (p.Val1127Ile)
|
rs370049107
|
0.00007
|
|
NM_000392.5(ABCC2):c.99G>A (p.Val33=)
|
rs376241522
|
0.00007
|
|
NM_000426.4(LAMA2):c.7486C>T (p.Leu2496Phe)
|
rs970365005
|
0.00007
|
|
NM_000429.3(MAT1A):c.816C>T (p.Gly272=)
|
rs751778923
|
0.00007
|
|
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp)
|
rs557113034
|
0.00007
|
|
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala)
|
rs373888280
|
0.00007
|
|
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg)
|
rs545731416
|
0.00007
|
|
NM_000481.4(AMT):c.159G>A (p.Ala53=)
|
rs201080782
|
0.00007
|
|
NM_000481.4(AMT):c.713C>T (p.Ala238Val)
|
rs199985521
|
0.00007
|
|
NM_000498.3(CYP11B2):c.1041C>T (p.Ala347=)
|
rs369251345
|
0.00007
|
|
NM_000520.6(HEXA):c.102C>T (p.Asp34=)
|
rs377310315
|
0.00007
|
|
NM_000540.3(RYR1):c.10032C>T (p.Pro3344=)
|
rs376687300
|
0.00007
|
|
NM_000540.3(RYR1):c.10260-12C>T
|
rs779541890
|
0.00007
|
|
NM_000540.3(RYR1):c.11260-13C>T
|
rs540088883
|
0.00007
|
|
NM_000540.3(RYR1):c.12888G>C (p.Arg4296=)
|
rs571850239
|
0.00007
|
|
NM_000540.3(RYR1):c.2251G>A (p.Val751Met)
|
rs767667578
|
0.00007
|
|
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=)
|
rs143418190
|
0.00007
|
|
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys)
|
rs199870223
|
0.00007
|
|
NM_000540.3(RYR1):c.7028-8G>A
|
rs147390699
|
0.00007
|
|
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)
|
rs767805554
|
0.00007
|
|
NM_000541.5(SAG):c.357G>A (p.Thr119=)
|
rs757487948
|
0.00007
|
|
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu)
|
rs139060277
|
0.00007
|
|
NM_000553.6(WRN):c.1302G>A (p.Thr434=)
|
rs374140086
|
0.00007
|
|
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp)
|
rs202046937
|
0.00007
|
|
NM_000733.4(CD3E):c.103+10T>C
|
rs143015515
|
0.00007
|
|
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg)
|
rs369969903
|
0.00007
|
|
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)
|
rs371636461
|
0.00007
|
|
NM_001005242.3(PKP2):c.795G>T (p.Gly265=)
|
rs375268778
|
0.00007
|
|
NM_001035.3(RYR2):c.10017C>T (p.His3339=)
|
rs376439588
|
0.00007
|
|
NM_001035.3(RYR2):c.1144G>A (p.Val382Met)
|
rs370057029
|
0.00007
|
|
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=)
|
rs774625105
|
0.00007
|
|
NM_001039141.3(TRIOBP):c.5867C>T (p.Pro1956Leu)
|
rs756017020
|
0.00007
|
|
NM_001040108.2(MLH3):c.3576C>T (p.Leu1192=)
|
rs376981545
|
0.00007
|
|
NM_001042432.2(CLN3):c.291G>A (p.Thr97=)
|
rs367945307
|
0.00007
|
|
NM_001042492.3(NF1):c.1392+6A>T
|
rs200798969
|
0.00007
|
|
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)
|
rs376655102
|
0.00007
|
|
NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=)
|
rs201412035
|
0.00007
|
|
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)
|
rs142540289
|
0.00007
|
|
NM_001080467.3(MYO5B):c.2644C>T (p.Arg882Trp)
|
rs777961930
|
0.00007
|
|
NM_001080517.3(SETD5):c.1525-5T>C
|
rs532565367
|
0.00007
|
|
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)
|
rs192609440
|
0.00007
|
|
NM_001114134.2(EPB42):c.620A>G (p.Gln207Arg)
|
rs758323919
|
0.00007
|
|
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys)
|
rs199675436
|
0.00007
|
|
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His)
|
rs777489323
|
0.00007
|
|
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=)
|
rs192717273
|
0.00007
|
|
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys)
|
rs200719174
|
0.00007
|
|
NM_001134363.3(RBM20):c.1053C>T (p.Asp351=)
|
rs192232825
|
0.00007
|
|
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr)
|
rs373797219
|
0.00007
|
|
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=)
|
rs727503388
|
0.00007
|
|
NM_001136193.2(FASTKD2):c.558A>G (p.Thr186=)
|
rs569854101
|
0.00007
|
|
NM_001142800.2(EYS):c.8233+9G>A
|
rs779154270
|
0.00007
|
|
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys)
|
rs371391349
|
0.00007
|
|
NM_001164508.2(NEB):c.11034G>A (p.Pro3678=)
|
rs528974814
|
0.00007
|
|
NM_001164508.2(NEB):c.11116A>G (p.Ile3706Val)
|
rs199551865
|
0.00007
|
|
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys)
|
rs372049328
|
0.00007
|
|
NM_001164508.2(NEB):c.19732-8C>T
|
rs137934821
|
0.00007
|
|
NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys)
|
rs772854423
|
0.00007
|
|
NM_001164508.2(NEB):c.368G>A (p.Arg123His)
|
rs546250852
|
0.00007
|
|
NM_001164508.2(NEB):c.5616G>A (p.Pro1872=)
|
rs368371414
|
0.00007
|
|
NM_001164508.2(NEB):c.6097G>A (p.Glu2033Lys)
|
rs956309067
|
0.00007
|
|
NM_001164508.2(NEB):c.6482G>A (p.Arg2161His)
|
rs373778424
|
0.00007
|
|
NM_001166114.2(PNPLA6):c.3450G>A (p.Gly1150=)
|
rs367675784
|
0.00007
|
|
NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met)
|
rs543181020
|
0.00007
|
|
NM_001193315.2(VIPAS39):c.78C>T (p.Asp26=)
|
rs112217896
|
0.00007
|
|
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp)
|
rs373914077
|
0.00007
|
|
NM_001199799.2(ILDR1):c.1324C>T (p.Arg442Cys)
|
rs141559449
|
0.00007
|
|
NM_001277115.2(DNAH11):c.1170G>A (p.Glu390=)
|
rs776924184
|
0.00007
|
|
NM_001277115.2(DNAH11):c.8316+7G>A
|
rs369837420
|
0.00007
|
|
NM_001277115.2(DNAH11):c.9103-15T>C
|
rs551974653
|
0.00007
|
|
NM_001278116.2(L1CAM):c.2106G>A (p.Pro702=)
|
rs200561489
|
0.00007
|
|
NM_001291303.3(FAT4):c.1802A>G (p.Glu601Gly)
|
rs377156485
|
0.00007
|
|
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=)
|
rs148468879
|
0.00007
|
|
NM_001360.3(DHCR7):c.855C>T (p.Phe285=)
|
rs781026169
|
0.00007
|
|
NM_001365088.1(SLC12A6):c.1601A>G (p.Asn534Ser)
|
rs778821191
|
0.00007
|
|
NM_001365999.1(SZT2):c.9287-8T>C
|
rs183871754
|
0.00007
|
|
NM_001367624.2(ZNF469):c.2873T>C (p.Leu958Pro)
|
rs370402083
|
0.00007
|
|
NM_001369.3(DNAH5):c.10646A>G (p.Glu3549Gly)
|
rs758546967
|
0.00007
|
|
NM_001369.3(DNAH5):c.13746C>T (p.Tyr4582=)
|
rs369094478
|
0.00007
|
|
NM_001369.3(DNAH5):c.4502C>T (p.Thr1501Ile)
|
rs368448770
|
0.00007
|
|
NM_001369.3(DNAH5):c.4562A>G (p.Glu1521Gly)
|
rs374248199
|
0.00007
|
|
NM_001369.3(DNAH5):c.477C>T (p.Gly159=)
|
rs897766386
|
0.00007
|
|
NM_001374385.1(ATP8B1):c.2904C>T (p.Tyr968=)
|
rs376358532
|
0.00007
|
|
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)
|
rs35092963
|
0.00007
|
|
NM_001379500.1(COL18A1):c.651+17C>T
|
rs578202936
|
0.00007
|
|
NM_001384474.1(LOXHD1):c.2599-12C>T
|
rs892676326
|
0.00007
|
|
NM_001458.5(FLNC):c.1142G>A (p.Arg381His)
|
rs776469396
|
0.00007
|
|
NM_001466.4(FZD2):c.655C>T (p.Arg219Cys)
|
rs375633511
|
0.00007
|
|
NM_001482.3(GATM):c.1041C>T (p.Asp347=)
|
rs139599307
|
0.00007
|
|
NM_001844.5(COL2A1):c.2949C>T (p.Val983=)
|
rs201719788
|
0.00007
|
|
NM_001844.5(COL2A1):c.3719G>A (p.Arg1240Gln)
|
rs770482348
|
0.00007
|
|
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=)
|
rs367625071
|
0.00007
|
|
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val)
|
rs374315921
|
0.00007
|
|
NM_001853.4(COL9A3):c.1624G>A (p.Ala542Thr)
|
rs190167637
|
0.00007
|
|
NM_001854.4(COL11A1):c.1138G>A (p.Glu380Lys)
|
rs372387693
|
0.00007
|
|
NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr)
|
rs144562769
|
0.00007
|
|
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)
|
rs778958318
|
0.00007
|
|
NM_001876.4(CPT1A):c.525G>A (p.Pro175=)
|
rs371805329
|
0.00007
|
|
NM_001972.4(ELANE):c.524C>T (p.Thr175Met)
|
rs193141883
|
0.00007
|
|
NM_002163.4(IRF8):c.988+10G>A
|
rs371410129
|
0.00007
|
|
NM_002234.4(KCNA5):c.464A>G (p.Tyr155Cys)
|
rs202117321
|
0.00007
|
|
NM_002241.5(KCNJ10):c.405C>T (p.Tyr135=)
|
rs765590257
|
0.00007
|
|
NM_002292.4(LAMB2):c.2295C>T (p.Cys765=)
|
rs201289156
|
0.00007
|
|
NM_002292.4(LAMB2):c.795G>A (p.Glu265=)
|
rs375953746
|
0.00007
|
|
NM_002335.4(LRP5):c.996C>T (p.Asn332=)
|
rs956302502
|
0.00007
|
|
NM_002435.3(MPI):c.849C>T (p.Cys283=)
|
rs377419930
|
0.00007
|
|
NM_002454.3(MTRR):c.21A>G (p.Leu7=)
|
rs114427781
|
0.00007
|
|
NM_002473.6(MYH9):c.2719A>G (p.Thr907Ala)
|
rs754354210
|
0.00007
|
|
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr)
|
rs767426084
|
0.00007
|
|
NM_002473.6(MYH9):c.5151-4G>A
|
rs368125656
|
0.00007
|
|
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr)
|
rs138863103
|
0.00007
|
|
NM_002529.4(NTRK1):c.585G>A (p.Thr195=)
|
rs182531655
|
0.00007
|
|
NM_002529.4(NTRK1):c.658C>T (p.Arg220Trp)
|
rs202030811
|
0.00007
|
|
NM_002906.4(RDX):c.777A>G (p.Pro259=)
|
rs142773831
|
0.00007
|
|
NM_003060.4(SLC22A5):c.415G>A (p.Asp139Asn)
|
rs577131769
|
0.00007
|
|
NM_003119.4(SPG7):c.306C>T (p.Asn102=)
|
rs147397994
|
0.00007
|
|
NM_003172.4(SURF1):c.321C>T (p.Ala107=)
|
rs141425824
|
0.00007
|
|
NM_003361.4(UMOD):c.567C>T (p.Tyr189=)
|
rs387907553
|
0.00007
|
|
NM_003383.5(VLDLR):c.104C>T (p.Pro35Leu)
|
rs113809568
|
0.00007
|
|
NM_003392.7(WNT5A):c.819G>A (p.Ala273=)
|
rs200583587
|
0.00007
|
|
NM_003465.3(CHIT1):c.549G>A (p.Ala183=)
|
rs371464440
|
0.00007
|
|
NM_003482.4(KMT2D):c.5645-3C>T
|
rs544332856
|
0.00007
|
|
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala)
|
rs35111108
|
0.00007
|
|
NM_003560.4(PLA2G6):c.1614C>T (p.Arg538=)
|
rs373930150
|
0.00007
|
|
NM_003630.3(PEX3):c.473C>G (p.Pro158Arg)
|
rs199781957
|
0.00007
|
|
NM_003839.4(TNFRSF11A):c.121G>A (p.Glu41Lys)
|
rs149317524
|
0.00007
|
|
NM_003849.4(SUCLG1):c.319-8T>C
|
rs370790297
|
0.00007
|
|
NM_004035.7(ACOX1):c.667G>A (p.Val223Ile)
|
rs143260706
|
0.00007
|
|
NM_004183.4(BEST1):c.1271G>C (p.Gly424Ala)
|
rs201210799
|
0.00007
|
|
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)
|
rs200951235
|
0.00007
|
|
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn)
|
rs199886166
|
0.00007
|
|
NM_004360.5(CDH1):c.854C>T (p.Thr285Ile)
|
rs587781634
|
0.00007
|
|
NM_004370.6(COL12A1):c.5483C>T (p.Pro1828Leu)
|
rs373011926
|
0.00007
|
|
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His)
|
rs186328815
|
0.00007
|
|
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser)
|
rs148023511
|
0.00007
|
|
NM_004415.4(DSP):c.3102C>T (p.Ile1034=)
|
rs569974617
|
0.00007
|
|
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg)
|
rs139673146
|
0.00007
|
|
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln)
|
rs767474960
|
0.00007
|
|
NM_004560.4(ROR2):c.2628G>A (p.Thr876=)
|
rs369201767
|
0.00007
|
|
NM_004560.4(ROR2):c.935G>A (p.Arg312His)
|
rs188376581
|
0.00007
|
|
NM_004656.4(BAP1):c.1749G>A (p.Ser583=)
|
rs147775249
|
0.00007
|
|
NM_004736.4(XPR1):c.1975C>T (p.Arg659Trp)
|
rs200954931
|
0.00007
|
|
NM_004793.4(LONP1):c.2853G>C (p.Gln951His)
|
rs370434508
|
0.00007
|
|
NM_004817.4(TJP2):c.2034C>T (p.Asn678=)
|
rs373160031
|
0.00007
|
|
NM_005045.4(RELN):c.10310T>C (p.Met3437Thr)
|
rs377638585
|
0.00007
|
|
NM_005076.5(CNTN2):c.1216G>A (p.Ala406Thr)
|
rs752262787
|
0.00007
|
|
NM_005157.6(ABL1):c.2350C>G (p.Pro784Ala)
|
rs201376463
|
0.00007
|
|
NM_005198.5(CHKB):c.219C>T (p.Pro73=)
|
rs751273046
|
0.00007
|
|
NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr)
|
rs186589083
|
0.00007
|
|
NM_005422.4(TECTA):c.2967C>A (p.His989Gln)
|
rs200821009
|
0.00007
|
|
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala)
|
rs200544452
|
0.00007
|
|
NM_005445.4(SMC3):c.2493T>C (p.Tyr831=)
|
rs112525060
|
0.00007
|
|
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu)
|
rs762770081
|
0.00007
|
|
NM_005529.7(HSPG2):c.13098C>T (p.Pro4366=)
|
rs759562639
|
0.00007
|
|
NM_005535.3(IL12RB1):c.701-6T>C
|
rs374699716
|
0.00007
|
|
NM_005546.4(ITK):c.139-6C>T
|
rs780173849
|
0.00007
|
|
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp)
|
rs200058475
|
0.00007
|
|
NM_006005.3(WFS1):c.726C>T (p.Ile242=)
|
rs71524381
|
0.00007
|
|
NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=)
|
rs151180675
|
0.00007
|
|
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=)
|
rs138527421
|
0.00007
|
|
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=)
|
rs755298136
|
0.00007
|
|
NM_006231.4(POLE):c.5278G>A (p.Val1760Met)
|
rs373272795
|
0.00007
|
|
NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=)
|
rs778120777
|
0.00007
|
|
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=)
|
rs147319894
|
0.00007
|
|
NM_006662.3(SRCAP):c.2892G>A (p.Leu964=)
|
rs556745550
|
0.00007
|
|
NM_006892.4(DNMT3B):c.720C>T (p.Pro240=)
|
rs200921151
|
0.00007
|
|
NM_006946.4(SPTBN2):c.1504A>G (p.Ile502Val)
|
rs751351000
|
0.00007
|
|
NM_006946.4(SPTBN2):c.5474C>T (p.Pro1825Leu)
|
rs140642213
|
0.00007
|
|
NM_007215.4(POLG2):c.328C>G (p.Leu110Val)
|
rs782703026
|
0.00007
|
|
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met)
|
rs80357001
|
0.00007
|
|
NM_012144.4(DNAI1):c.672A>G (p.Thr224=)
|
rs201101182
|
0.00007
|
|
NM_012275.3(IL36RN):c.436A>G (p.Ile146Val)
|
rs202059991
|
0.00007
|
|
NM_013296.5(GPSM2):c.57-10A>G
|
rs184863735
|
0.00007
|
|
NM_014000.3(VCL):c.2802C>T (p.Ala934=)
|
rs372381809
|
0.00007
|
|
NM_014141.6(CNTNAP2):c.645C>T (p.Asn215=)
|
rs776956365
|
0.00007
|
|
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=)
|
rs188566209
|
0.00007
|
|
NM_014244.5(ADAMTS2):c.2970C>T (p.Thr990=)
|
rs769689633
|
0.00007
|
|
NM_014297.5(ETHE1):c.375+7T>C
|
rs752466453
|
0.00007
|
|
NM_014297.5(ETHE1):c.535C>T (p.His179Tyr)
|
rs370182416
|
0.00007
|
|
NM_014339.7(IL17RA):c.1475G>A (p.Arg492Lys)
|
rs770597137
|
0.00007
|
|
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)
|
rs148925505
|
0.00007
|
|
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys)
|
rs375805688
|
0.00007
|
|
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu)
|
rs370095300
|
0.00007
|
|
NM_014391.3(ANKRD1):c.820T>C (p.Tyr274His)
|
rs377074932
|
0.00007
|
|
NM_014714.4(IFT140):c.1010-10C>T
|
rs376722338
|
0.00007
|
|
NM_014855.3(AP5Z1):c.1617G>C (p.Leu539=)
|
rs569601905
|
0.00007
|
|
NM_014915.3(ANKRD26):c.301G>A (p.Asp101Asn)
|
rs199753643
|
0.00007
|
|
NM_015192.4(PLCB1):c.3189-14C>T
|
rs777913912
|
0.00007
|
|
NM_015404.4(WHRN):c.2093T>A (p.Val698Glu)
|
rs201184915
|
0.00007
|
|
NM_016219.5(MAN1B1):c.1065+11T>C
|
rs200147487
|
0.00007
|
|
NM_016239.4(MYO15A):c.2012G>A (p.Ser671Asn)
|
rs962124239
|
0.00007
|
|
NM_016239.4(MYO15A):c.4038+6_4038+7insTG
|
rs759039332
|
0.00007
|
|
NM_016239.4(MYO15A):c.9982A>C (p.Ser3328Arg)
|
rs376470294
|
0.00007
|
|
NM_017636.4(TRPM4):c.2779-5C>T
|
rs374639233
|
0.00007
|
|
NM_017636.4(TRPM4):c.483C>T (p.Gly161=)
|
rs147157308
|
0.00007
|
|
NM_017721.5(CC2D1A):c.498C>T (p.Tyr166=)
|
rs373022042
|
0.00007
|
|
NM_017950.4(CCDC40):c.660C>T (p.Phe220=)
|
rs200678214
|
0.00007
|
|
NM_018418.5(SPATA7):c.1216-4C>T
|
rs755958987
|
0.00007
|
|
NM_018451.5(CENPJ):c.3663G>A (p.Pro1221=)
|
rs200291056
|
0.00007
|
|
NM_018706.7(DHTKD1):c.718-5A>G
|
rs374421488
|
0.00007
|
|
NM_018896.5(CACNA1G):c.3010G>A (p.Asp1004Asn)
|
rs377336879
|
0.00007
|
|
NM_020247.5(COQ8A):c.1612C>T (p.Arg538Trp)
|
rs201331131
|
0.00007
|
|
NM_020549.5(CHAT):c.1345G>A (p.Val449Ile)
|
rs757733319
|
0.00007
|
|
NM_020686.6(ABAT):c.864C>T (p.Ala288=)
|
rs149855547
|
0.00007
|
|
NM_020745.4(AARS2):c.761G>C (p.Gly254Ala)
|
rs199919912
|
0.00007
|
|
NM_020778.5(ALPK3):c.3137G>A (p.Arg1046His)
|
rs184951836
|
0.00007
|
|
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys)
|
rs145102919
|
0.00007
|
|
NM_022089.4(ATP13A2):c.197G>A (p.Arg66His)
|
rs367745335
|
0.00007
|
|
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)
|
rs181611778
|
0.00007
|
|
NM_022124.6(CDH23):c.996G>A (p.Thr332=)
|
rs727504715
|
0.00007
|
|
NM_022369.4(STRA6):c.366C>T (p.Asp122=)
|
rs147428518
|
0.00007
|
|
NM_022437.3(ABCG8):c.351G>A (p.Val117=)
|
rs41281459
|
0.00007
|
|
NM_022437.3(ABCG8):c.450C>T (p.His150=)
|
rs200013237
|
0.00007
|
|
NM_022455.5(NSD1):c.142A>G (p.Met48Val)
|
rs200735877
|
0.00007
|
|
NM_022489.4(INF2):c.1304C>T (p.Ala435Val)
|
rs777455096
|
0.00007
|
|
NM_022489.4(INF2):c.1588G>A (p.Val530Met)
|
rs369984449
|
0.00007
|
|
NM_022489.4(INF2):c.3082C>T (p.Arg1028Cys)
|
rs369987125
|
0.00007
|
|
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser)
|
rs148073122
|
0.00007
|
|
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser)
|
rs45543843
|
0.00007
|
|
NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala)
|
rs762885961
|
0.00007
|
|
NM_025000.4(DCAF17):c.1266+6G>A
|
rs557741620
|
0.00007
|
|
NM_025000.4(DCAF17):c.1422+14G>A
|
rs368707741
|
0.00007
|
|
NM_025009.5(CEP135):c.203T>C (p.Leu68Ser)
|
rs147697562
|
0.00007
|
|
NM_025137.4(SPG11):c.3038+14A>G
|
rs774593393
|
0.00007
|
|
NM_025137.4(SPG11):c.31G>C (p.Ala11Pro)
|
rs529316227
|
0.00007
|
|
NM_025137.4(SPG11):c.6410G>A (p.Arg2137Gln)
|
rs200283964
|
0.00007
|
|
NM_025193.4(HSD3B7):c.1047G>C (p.Ser349=)
|
rs746926891
|
0.00007
|
|
NM_025243.4(SLC19A3):c.481T>C (p.Leu161=)
|
rs375099581
|
0.00007
|
|
NM_030665.4(RAI1):c.1499C>T (p.Pro500Leu)
|
rs775231187
|
0.00007
|
|
NM_030665.4(RAI1):c.3158C>T (p.Pro1053Leu)
|
rs748386061
|
0.00007
|
|
NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala)
|
rs199596170
|
0.00007
|
|
NM_032119.4(ADGRV1):c.10342G>A (p.Val3448Met)
|
rs199715642
|
0.00007
|
|
NM_032119.4(ADGRV1):c.11339G>A (p.Arg3780His)
|
rs375613551
|
0.00007
|
|
NM_032119.4(ADGRV1):c.1374T>A (p.Phe458Leu)
|
rs373868639
|
0.00007
|
|
NM_032119.4(ADGRV1):c.2991T>C (p.Ile997=)
|
rs570773279
|
0.00007
|
|
NM_032119.4(ADGRV1):c.3955C>T (p.Arg1319Trp)
|
rs372789540
|
0.00007
|
|
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met)
|
rs756414393
|
0.00007
|
|
NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=)
|
rs373667458
|
0.00007
|
|
NM_032119.4(ADGRV1):c.9466A>G (p.Ile3156Val)
|
rs372484022
|
0.00007
|
|
NM_032380.5(GFM2):c.1196T>C (p.Ile399Thr)
|
rs143233751
|
0.00007
|
|
NM_052872.4(IL17F):c.243C>G (p.Pro81=)
|
rs769617558
|
0.00007
|
|
NM_053025.4(MYLK):c.1651+7T>C
|
rs758327487
|
0.00007
|
|
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg)
|
rs201615936
|
0.00007
|
|
NM_080424.4(SP110):c.237T>G (p.Ser79=)
|
rs202135641
|
0.00007
|
|
NM_080680.3(COL11A2):c.142C>T (p.Arg48Trp)
|
rs151140273
|
0.00007
|
|
NM_080680.3(COL11A2):c.2327G>A (p.Arg776His)
|
rs748159740
|
0.00007
|
|
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)
|
rs142855690
|
0.00007
|
|
NM_138694.4(PKHD1):c.3629-15G>A
|
rs375870003
|
0.00007
|
|
NM_138694.4(PKHD1):c.711A>T (p.Ser237=)
|
rs138184195
|
0.00007
|
|
NM_138694.4(PKHD1):c.8440+10G>C
|
rs376658460
|
0.00007
|
|
NM_139076.3(ABRAXAS1):c.178+9T>C
|
rs367733190
|
0.00007
|
|
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile)
|
rs201180712
|
0.00007
|
|
NM_144997.7(FLCN):c.552C>A (p.Asn184Lys)
|
rs143525924
|
0.00007
|
|
NM_145200.5(CABP4):c.579G>A (p.Leu193=)
|
rs139392451
|
0.00007
|
|
NM_152383.5(DIS3L2):c.1908C>T (p.Ser636=)
|
rs778830625
|
0.00007
|
|
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)
|
rs116802390
|
0.00007
|
|
NM_173648.4(CCDC141):c.1225C>T (p.Gln409Ter)
|
rs143025382
|
0.00007
|
|
NM_173689.7(CRB2):c.2116C>T (p.Arg706Trp)
|
rs575676072
|
0.00007
|
|
NM_174936.4(PCSK9):c.1206C>T (p.Ala402=)
|
rs200091654
|
0.00007
|
|
NM_174936.4(PCSK9):c.799+8A>G
|
rs748933873
|
0.00007
|
|
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr)
|
rs200997641
|
0.00007
|
|
NM_194248.3(OTOF):c.2516C>T (p.Ala839Val)
|
rs201246660
|
0.00007
|
|
NM_198076.6(COX20):c.92G>A (p.Arg31Gln)
|
rs764620077
|
0.00007
|
|
NM_198904.4(GABRG2):c.135C>T (p.Asp45=)
|
rs375308385
|
0.00007
|
|
NM_198999.3(SLC26A5):c.1849C>T (p.Pro617Ser)
|
rs144150940
|
0.00007
|
|
NM_199242.3(UNC13D):c.2241C>T (p.Ser747=)
|
rs372453702
|
0.00007
|
|
NM_199242.3(UNC13D):c.273G>A (p.Val91=)
|
rs149494974
|
0.00007
|
|
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr)
|
rs142302070
|
0.00007
|
|
NM_206933.4(USH2A):c.3861A>G (p.Lys1287=)
|
rs750789180
|
0.00007
|
|
NM_206933.4(USH2A):c.8137G>T (p.Ala2713Ser)
|
rs199934541
|
0.00007
|
|
NM_207346.3(TSEN54):c.468+8C>T
|
rs117456384
|
0.00007
|
|
NM_000016.6(ACADM):c.582C>T (p.Asn194=)
|
rs778535261
|
0.00006
|
|
NM_000017.4(ACADS):c.624+11C>T
|
rs763811046
|
0.00006
|
|
NM_000018.4(ACADVL):c.62+18G>A
|
rs780776419
|
0.00006
|
|
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=)
|
rs367713788
|
0.00006
|
|
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)
|
rs372169445
|
0.00006
|
|
NM_000022.4(ADA):c.375C>G (p.Thr125=)
|
rs766539394
|
0.00006
|
|
NM_000022.4(ADA):c.927G>A (p.Gln309=)
|
rs139871719
|
0.00006
|
|
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile)
|
rs199804735
|
0.00006
|
|
NM_000023.4(SGCA):c.657C>T (p.His219=)
|
rs747684069
|
0.00006
|
|
NM_000027.4(AGA):c.623-13T>G
|
rs778434616
|
0.00006
|
|
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser)
|
rs375019683
|
0.00006
|
|
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)
|
rs782157913
|
0.00006
|
|
NM_000035.4(ALDOB):c.849C>T (p.Asn283=)
|
rs202062631
|
0.00006
|
|
NM_000037.4(ANK1):c.4105-5T>G
|
rs768183148
|
0.00006
|
|
NM_000038.6(APC):c.2527A>G (p.Ser843Gly)
|
rs536223189
|
0.00006
|
|
NM_000038.6(APC):c.3632T>G (p.Met1211Arg)
|
rs575268622
|
0.00006
|
|
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr)
|
rs139618756
|
0.00006
|
|
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)
|
rs148275069
|
0.00006
|
|
NM_000038.6(APC):c.5774C>A (p.Pro1925His)
|
rs762682111
|
0.00006
|
|
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn)
|
rs538230198
|
0.00006
|
|
NM_000038.6(APC):c.7574G>A (p.Arg2525His)
|
rs762034315
|
0.00006
|
|
NM_000038.6(APC):c.7888G>A (p.Val2630Ile)
|
rs199688874
|
0.00006
|
|
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)
|
rs587778046
|
0.00006
|
|
NM_000048.4(ASL):c.401G>A (p.Gly134Asp)
|
rs201352504
|
0.00006
|
|
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)
|
rs3218708
|
0.00006
|
|
NM_000051.4(ATM):c.3577-13T>C
|
rs587780856
|
0.00006
|
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
|
NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln)
|
rs782166627
|
0.00006
|
|
NM_000052.7(ATP7A):c.824A>G (p.Asn275Ser)
|
rs368147403
|
0.00006
|
|
NM_000053.4(ATP7B):c.1351G>A (p.Gly451Ser)
|
rs186300062
|
0.00006
|
|
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=)
|
rs550565277
|
0.00006
|
|
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=)
|
rs377586515
|
0.00006
|
|
NM_000053.4(ATP7B):c.325C>T (p.Leu109=)
|
rs751920801
|
0.00006
|
|
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp)
|
rs755476114
|
0.00006
|
|
NM_000057.4(BLM):c.2475G>A (p.Pro825=)
|
rs147587050
|
0.00006
|
|
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys)
|
rs80358862
|
0.00006
|
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
|
NM_000062.3(SERPING1):c.1045C>T (p.Leu349Phe)
|
rs141075266
|
0.00006
|
|
NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val)
|
rs369139165
|
0.00006
|
|
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His)
|
rs146696298
|
0.00006
|
|
NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr)
|
rs144590408
|
0.00006
|
|
NM_000069.3(CACNA1S):c.208G>A (p.Val70Met)
|
rs771706267
|
0.00006
|
|
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val)
|
rs200646947
|
0.00006
|
|
NM_000069.3(CACNA1S):c.2729G>A (p.Arg910Lys)
|
rs375318710
|
0.00006
|
|
NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val)
|
rs138708497
|
0.00006
|
|
NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys)
|
rs201257304
|
0.00006
|
|
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu)
|
rs202120583
|
0.00006
|
|
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile)
|
rs756066219
|
0.00006
|
|
NM_000070.3(CAPN3):c.1404C>T (p.Asp468=)
|
rs534326487
|
0.00006
|
|
NM_000070.3(CAPN3):c.1812C>T (p.Phe604=)
|
rs144383704
|
0.00006
|
|
NM_000070.3(CAPN3):c.329G>A (p.Arg110Gln)
|
rs188108732
|
0.00006
|
|
NM_000071.3(CBS):c.1161C>T (p.Ser387=)
|
rs149280976
|
0.00006
|
|
NM_000071.3(CBS):c.1425G>A (p.Pro475=)
|
rs147885808
|
0.00006
|
|
NM_000071.3(CBS):c.786G>A (p.Thr262=)
|
rs551782391
|
0.00006
|
|
NM_000081.4(LYST):c.3030A>G (p.Gly1010=)
|
rs751511204
|
0.00006
|
|
NM_000081.4(LYST):c.3834G>A (p.Leu1278=)
|
rs148542548
|
0.00006
|
|
NM_000081.4(LYST):c.4983G>A (p.Leu1661=)
|
rs1482156206
|
0.00006
|
|
NM_000081.4(LYST):c.5635-4A>G
|
rs754201076
|
0.00006
|
|
NM_000081.4(LYST):c.7911G>A (p.Thr2637=)
|
rs140229368
|
0.00006
|
|
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)
|
rs148216434
|
0.00006
|
|
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)
|
rs377278762
|
0.00006
|
|
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr)
|
rs201031986
|
0.00006
|
|
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
|
rs199514043
|
0.00006
|
|
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys)
|
rs555143841
|
0.00006
|
|
NM_000092.5(COL4A4):c.4151C>T (p.Ala1384Val)
|
rs199911379
|
0.00006
|
|
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)
|
rs192411379
|
0.00006
|
|
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe)
|
rs201403066
|
0.00006
|
|
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp)
|
rs147329970
|
0.00006
|
|
NM_000094.4(COL7A1):c.1325G>A (p.Arg442His)
|
rs146415546
|
0.00006
|
|
NM_000094.4(COL7A1):c.4287C>T (p.Pro1429=)
|
rs749814590
|
0.00006
|
|
NM_000094.4(COL7A1):c.447C>T (p.Asp149=)
|
rs372585819
|
0.00006
|
|
NM_000094.4(COL7A1):c.4666A>G (p.Lys1556Glu)
|
rs777472432
|
0.00006
|
|
NM_000094.4(COL7A1):c.5877C>T (p.Ile1959=)
|
rs779298653
|
0.00006
|
|
NM_000094.4(COL7A1):c.6398T>C (p.Val2133Ala)
|
rs372838887
|
0.00006
|
|
NM_000098.3(CPT2):c.1737C>T (p.Tyr579=)
|
rs957344521
|
0.00006
|
|
NM_000098.3(CPT2):c.614A>G (p.Tyr205Cys)
|
rs779525393
|
0.00006
|
|
NM_000098.3(CPT2):c.692G>A (p.Arg231Gln)
|
rs369369333
|
0.00006
|
|
NM_000098.3(CPT2):c.877A>G (p.Ser293Gly)
|
rs145237292
|
0.00006
|
|
NM_000102.4(CYP17A1):c.1524C>T (p.Thr508=)
|
rs145067399
|
0.00006
|
|
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
|
NM_000130.5(F5):c.1106C>T (p.Ala369Val)
|
rs200934105
|
0.00006
|
|
NM_000130.5(F5):c.3442T>C (p.Ser1148Pro)
|
rs369276714
|
0.00006
|
|
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)
|
rs201212806
|
0.00006
|
|
NM_000135.4(FANCA):c.1806G>A (p.Ala602=)
|
rs550064744
|
0.00006
|
|
NM_000135.4(FANCA):c.2778+83C>T
|
rs750997715
|
0.00006
|
|
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)
|
rs376523966
|
0.00006
|
|
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His)
|
rs374649848
|
0.00006
|
|
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)
|
rs145886270
|
0.00006
|
|
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)
|
rs201494304
|
0.00006
|
|
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr)
|
rs374984587
|
0.00006
|
|
NM_000137.4(FAH):c.302A>G (p.Glu101Gly)
|
rs758347578
|
0.00006
|
|
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)
|
rs201778577
|
0.00006
|
|
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)
|
rs775543440
|
0.00006
|
|
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe)
|
rs758725993
|
0.00006
|
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
|
NM_000141.5(FGFR2):c.201C>T (p.Ala67=)
|
rs200386134
|
0.00006
|
|
NM_000142.5(FGFR3):c.1498G>A (p.Ala500Thr)
|
rs751635116
|
0.00006
|
|
NM_000142.5(FGFR3):c.1513G>A (p.Val505Ile)
|
rs144546453
|
0.00006
|
|
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu)
|
rs144995231
|
0.00006
|
|
NM_000142.5(FGFR3):c.885C>T (p.Gly295=)
|
rs375181682
|
0.00006
|
|
NM_000143.4(FH):c.35G>T (p.Arg12Leu)
|
rs367826177
|
0.00006
|
|
NM_000151.4(G6PC1):c.18T>C (p.Asn6=)
|
rs144652516
|
0.00006
|
|
NM_000152.5(GAA):c.1195-15G>A
|
rs373840229
|
0.00006
|
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
|
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)
|
rs377126280
|
0.00006
|
|
NM_000153.4(GALC):c.120C>T (p.Gly40=)
|
rs532800656
|
0.00006
|
|
NM_000153.4(GALC):c.18C>G (p.Leu6=)
|
rs886038260
|
0.00006
|
|
NM_000154.2(GALK1):c.165+6G>A
|
rs779996721
|
0.00006
|
|
NM_000155.4(GALT):c.1128A>T (p.Ala376=)
|
rs781374930
|
0.00006
|
|
NM_000155.4(GALT):c.211C>T (p.Leu71Phe)
|
rs143994870
|
0.00006
|
|
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys)
|
rs760661724
|
0.00006
|
|
NM_000159.4(GCDH):c.885C>T (p.Tyr295=)
|
rs139192015
|
0.00006
|
|
NM_000170.3(GLDC):c.2028C>T (p.Ile676=)
|
rs372604935
|
0.00006
|
|
NM_000170.3(GLDC):c.258C>T (p.Ser86=)
|
rs562000292
|
0.00006
|
|
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys)
|
rs139931025
|
0.00006
|
|
NM_000170.3(GLDC):c.78G>C (p.Ser26=)
|
rs915226152
|
0.00006
|
|
NM_000186.4(CFH):c.2196G>A (p.Thr732=)
|
rs144325643
|
0.00006
|
|
NM_000187.4(HGD):c.550-14G>C
|
rs769000073
|
0.00006
|
|
NM_000199.5(SGSH):c.1302G>A (p.Ala434=)
|
rs376787615
|
0.00006
|
|
NM_000199.5(SGSH):c.432C>T (p.Ser144=)
|
rs200194908
|
0.00006
|
|
NM_000203.5(IDUA):c.1800G>A (p.Ser600=)
|
rs763047621
|
0.00006
|
|
NM_000203.5(IDUA):c.981G>T (p.Ala327=)
|
rs372379342
|
0.00006
|
|
NM_000211.5(ITGB2):c.681C>T (p.Ser227=)
|
rs369981986
|
0.00006
|
|
NM_000211.5(ITGB2):c.768G>A (p.Thr256=)
|
rs201148219
|
0.00006
|
|
NM_000211.5(ITGB2):c.849C>T (p.Asp283=)
|
rs35013643
|
0.00006
|
|
NM_000213.5(ITGB4):c.2834G>A (p.Arg945Gln)
|
rs141953294
|
0.00006
|
|
NM_000215.4(JAK3):c.1184G>A (p.Arg395His)
|
rs143038064
|
0.00006
|
|
NM_000222.3(KIT):c.910A>G (p.Thr304Ala)
|
rs202052259
|
0.00006
|
|
NM_000238.4(KCNH2):c.3153-13C>T
|
rs372337645
|
0.00006
|
|
NM_000243.3(MEFV):c.1610+8G>A
|
rs765410591
|
0.00006
|
|
NM_000243.3(MEFV):c.1759+7C>T
|
rs772667365
|
0.00006
|
|
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)
|
rs104895092
|
0.00006
|
|
NM_000243.3(MEFV):c.549G>A (p.Pro183=)
|
rs587781035
|
0.00006
|
|
NM_000246.4(CIITA):c.1006+12G>A
|
rs368964652
|
0.00006
|
|
NM_000246.4(CIITA):c.1944A>T (p.Ala648=)
|
rs778678693
|
0.00006
|
|
NM_000246.4(CIITA):c.2832G>A (p.Ser944=)
|
rs766538754
|
0.00006
|
|
NM_000246.4(CIITA):c.2979G>A (p.Ala993=)
|
rs142031278
|
0.00006
|
|
NM_000246.4(CIITA):c.384C>T (p.Ile128=)
|
rs140106499
|
0.00006
|
|
NM_000246.4(CIITA):c.772+5G>T
|
rs376221650
|
0.00006
|
|
NM_000257.4(MYH7):c.1000-7C>T
|
rs200129563
|
0.00006
|
|
NM_000260.4(MYO7A):c.3503+9C>T
|
rs1481745974
|
0.00006
|
|
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr)
|
rs727503328
|
0.00006
|
|
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg)
|
rs781713344
|
0.00006
|
|
NM_000270.4(PNP):c.645C>T (p.Asp215=)
|
rs369193020
|
0.00006
|
|
NM_000271.5(NPC1):c.1479C>T (p.Ser493=)
|
rs148078801
|
0.00006
|
|
NM_000271.5(NPC1):c.2246-6C>T
|
rs757950161
|
0.00006
|
|
NM_000271.5(NPC1):c.2862G>A (p.Ser954=)
|
rs373517774
|
0.00006
|
|
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=)
|
rs182413311
|
0.00006
|
|
NM_000277.3(PAH):c.222A>G (p.Lys74=)
|
rs374797155
|
0.00006
|
|
NM_000277.3(PAH):c.438C>T (p.His146=)
|
rs191142120
|
0.00006
|
|
NM_000291.4(PGK1):c.1192G>A (p.Ala398Thr)
|
rs199644680
|
0.00006
|
|
NM_000291.4(PGK1):c.375T>A (p.His125Gln)
|
rs142134146
|
0.00006
|
|
NM_000293.3(PHKB):c.2136G>A (p.Pro712=)
|
rs200274360
|
0.00006
|
|
NM_000294.3(PHKG2):c.318G>T (p.Val106=)
|
rs199743139
|
0.00006
|
|
NM_000295.5(SERPINA1):c.6G>A (p.Pro2=)
|
rs200936638
|
0.00006
|
|
NM_000303.3(PMM2):c.640-12G>A
|
rs375325546
|
0.00006
|
|
NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg)
|
rs555112175
|
0.00006
|
|
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His)
|
rs199473592
|
0.00006
|
|
NM_000335.5(SCN5A):c.393-5C>A
|
rs368678204
|
0.00006
|
|
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)
|
rs199473044
|
0.00006
|
|
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)
|
rs137854619
|
0.00006
|
|
NM_000342.4(SLC4A1):c.2694G>A (p.Glu898=)
|
rs373388521
|
0.00006
|
|
NM_000350.3(ABCA4):c.1267C>T (p.His423Tyr)
|
rs138044729
|
0.00006
|
|
NM_000350.3(ABCA4):c.2743+12A>C
|
rs559119402
|
0.00006
|
|
NM_000350.3(ABCA4):c.3523-9C>G
|
rs374302531
|
0.00006
|
|
NM_000350.3(ABCA4):c.5197-4C>T
|
rs758825834
|
0.00006
|
|
NM_000352.6(ABCC8):c.1924-13A>G
|
rs369865762
|
0.00006
|
|
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn)
|
rs531684936
|
0.00006
|
|
NM_000352.6(ABCC8):c.3329+7G>A
|
rs776313489
|
0.00006
|
|
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys)
|
rs200563930
|
0.00006
|
|
NM_000353.3(TAT):c.231C>A (p.Ser77=)
|
rs562235592
|
0.00006
|
|
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser)
|
rs200517023
|
0.00006
|
|
NM_000360.4(TH):c.1228C>A (p.Arg410=)
|
rs575326605
|
0.00006
|
|
NM_000360.4(TH):c.263C>T (p.Pro88Leu)
|
rs150260759
|
0.00006
|
|
NM_000365.6(TPI1):c.458-18del
|
rs781911173
|
0.00006
|
|
NM_000370.3(TTPA):c.355A>G (p.Ile119Val)
|
rs766200402
|
0.00006
|
|
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met)
|
rs201491251
|
0.00006
|
|
NM_000383.4(AIRE):c.718G>A (p.Gly240Ser)
|
rs142286875
|
0.00006
|
|
NM_000384.3(APOB):c.12677C>T (p.Thr4226Met)
|
rs371177562
|
0.00006
|
|
NM_000384.3(APOB):c.3246A>C (p.Glu1082Asp)
|
rs371987644
|
0.00006
|
|
NM_000384.3(APOB):c.3449T>A (p.Met1150Lys)
|
rs146223051
|
0.00006
|
|
NM_000384.3(APOB):c.4421A>G (p.Lys1474Arg)
|
rs759246439
|
0.00006
|
|
NM_000384.3(APOB):c.5387C>G (p.Thr1796Ser)
|
rs529168934
|
0.00006
|
|
NM_000384.3(APOB):c.5560G>A (p.Asp1854Asn)
|
rs138005301
|
0.00006
|
|
NM_000384.3(APOB):c.5734A>T (p.Asn1912Tyr)
|
rs186480094
|
0.00006
|
|
NM_000384.3(APOB):c.6019G>A (p.Val2007Met)
|
rs145424390
|
0.00006
|
|
NM_000384.3(APOB):c.7094C>T (p.Ala2365Val)
|
rs200034452
|
0.00006
|
|
NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp)
|
rs149306841
|
0.00006
|
|
NM_000384.3(APOB):c.8198T>C (p.Val2733Ala)
|
rs771792572
|
0.00006
|
|
NM_000384.3(APOB):c.9407G>A (p.Arg3136His)
|
rs199590149
|
0.00006
|
|
NM_000384.3(APOB):c.9493A>G (p.Thr3165Ala)
|
rs149166048
|
0.00006
|
|
NM_000391.4(TPP1):c.323C>T (p.Ala108Val)
|
rs374132017
|
0.00006
|
|
NM_000391.4(TPP1):c.437C>T (p.Thr146Met)
|
rs748686068
|
0.00006
|
|
NM_000392.5(ABCC2):c.3576C>G (p.Thr1192=)
|
rs146575217
|
0.00006
|
|
NM_000392.5(ABCC2):c.3987+10G>A
|
rs373365135
|
0.00006
|
|
NM_000417.3(IL2RA):c.584-6C>T
|
rs201675947
|
0.00006
|
|
NM_000419.5(ITGA2B):c.2862G>A (p.Val954=)
|
rs201119421
|
0.00006
|
|
NM_000426.4(LAMA2):c.3862G>A (p.Val1288Ile)
|
rs758134778
|
0.00006
|
|
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr)
|
rs368349321
|
0.00006
|
|
NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile)
|
rs201587923
|
0.00006
|
|
NM_000426.4(LAMA2):c.8524A>G (p.Ile2842Val)
|
rs140178576
|
0.00006
|
|
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg)
|
rs370843758
|
0.00006
|
|
NM_000429.3(MAT1A):c.204T>C (p.Cys68=)
|
rs200574801
|
0.00006
|
|
NM_000429.3(MAT1A):c.550-5G>A
|
rs761943871
|
0.00006
|
|
NM_000435.3(NOTCH3):c.1416G>T (p.Glu472Asp)
|
rs1416152273
|
0.00006
|
|
NM_000435.3(NOTCH3):c.2000G>A (p.Gly667Asp)
|
rs370386680
|
0.00006
|
|
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu)
|
rs778715118
|
0.00006
|
|
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp)
|
rs753170185
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=)
|
rs766572560
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu)
|
rs200511789
|
0.00006
|
|
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=)
|
rs202033028
|
0.00006
|
|
NM_000443.4(ABCB4):c.2340C>T (p.Gly780=)
|
rs148865252
|
0.00006
|
|
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=)
|
rs561612231
|
0.00006
|
|
NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=)
|
rs771437431
|
0.00006
|
|
NM_000452.3(SLC10A2):c.261G>A (p.Ser87=)
|
rs200682819
|
0.00006
|
|
NM_000455.5(STK11):c.125G>T (p.Arg42Leu)
|
rs148830698
|
0.00006
|
|
NM_000455.5(STK11):c.842C>T (p.Pro281Leu)
|
rs121913322
|
0.00006
|
|
NM_000455.5(STK11):c.992G>A (p.Arg331Gln)
|
rs371264852
|
0.00006
|
|
NM_000458.4(HNF1B):c.1339+17G>A
|
rs374854968
|
0.00006
|
|
NM_000458.4(HNF1B):c.313G>A (p.Glu105Lys)
|
rs199572129
|
0.00006
|
|
NM_000458.4(HNF1B):c.36C>T (p.Leu12=)
|
rs749370057
|
0.00006
|
|
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)
|
rs753479021
|
0.00006
|
|
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala)
|
rs371309198
|
0.00006
|
|
NM_000466.3(PEX1):c.1284C>T (p.Ala428=)
|
rs145153467
|
0.00006
|
|
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)
|
rs374167385
|
0.00006
|
|
NM_000466.3(PEX1):c.2927-12T>A
|
rs375062546
|
0.00006
|
|
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn)
|
rs372485912
|
0.00006
|
|
NM_000481.4(AMT):c.555C>T (p.Pro185=)
|
rs144790394
|
0.00006
|
|
NM_000481.4(AMT):c.91-9C>T
|
rs761235679
|
0.00006
|
|
NM_000484.4(APP):c.1458+9C>T
|
rs201937048
|
0.00006
|
|
NM_000487.6(ARSA):c.225-5C>T
|
rs192013394
|
0.00006
|
|
NM_000487.6(ARSA):c.918G>A (p.Thr306=)
|
rs370250328
|
0.00006
|
|
NM_000489.6(ATRX):c.2105A>G (p.Asn702Ser)
|
rs782409603
|
0.00006
|
|
NM_000492.4(CFTR):c.1679+18G>A
|
rs369294289
|
0.00006
|
|
NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys)
|
rs201591901
|
0.00006
|
|
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=)
|
rs375845215
|
0.00006
|
|
NM_000492.4(CFTR):c.3964-16T>C
|
rs199672530
|
0.00006
|
|
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)
|
rs761669740
|
0.00006
|
|
NM_000498.3(CYP11B2):c.1215T>G (p.Val405=)
|
rs745762132
|
0.00006
|
|
NM_000498.3(CYP11B2):c.596-4G>A
|
rs370388708
|
0.00006
|
|
NM_000503.6(EYA1):c.671G>T (p.Gly224Val)
|
rs201509408
|
0.00006
|
|
NM_000506.5(F2):c.1815T>C (p.His605=)
|
rs368442575
|
0.00006
|
|
NM_000512.5(GALNS):c.1071G>A (p.Pro357=)
|
rs374619390
|
0.00006
|
|
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg)
|
rs371459975
|
0.00006
|
|
NM_000512.5(GALNS):c.1269C>T (p.Asn423=)
|
rs148709901
|
0.00006
|
|
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln)
|
rs140162658
|
0.00006
|
|
NM_000518.5(HBB):c.316-189A>G
|
rs1034207896
|
0.00006
|
|
NM_000521.4(HEXB):c.1269A>G (p.Val423=)
|
rs746407358
|
0.00006
|
|
NM_000527.5(LDLR):c.1516G>A (p.Val506Met)
|
rs373848925
|
0.00006
|
|
NM_000527.5(LDLR):c.1846-10G>T
|
rs368243304
|
0.00006
|
|
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=)
|
rs762152042
|
0.00006
|
|
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)
|
rs754733253
|
0.00006
|
|
NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met)
|
rs150977342
|
0.00006
|
|
NM_000540.3(RYR1):c.10440+7G>A
|
rs750987143
|
0.00006
|
|
NM_000540.3(RYR1):c.10938-11C>T
|
rs760754746
|
0.00006
|
|
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=)
|
rs748743312
|
0.00006
|
|
NM_000540.3(RYR1):c.2603G>A (p.Arg868His)
|
rs750938678
|
0.00006
|
|
NM_000540.3(RYR1):c.2844C>T (p.Asn948=)
|
rs761045773
|
0.00006
|
|
NM_000540.3(RYR1):c.3951C>T (p.Pro1317=)
|
rs745447236
|
0.00006
|
|
NM_000540.3(RYR1):c.4620+13C>T
|
rs201971363
|
0.00006
|
|
NM_000540.3(RYR1):c.5385G>C (p.Pro1795=)
|
rs772422894
|
0.00006
|
|
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys)
|
rs746818096
|
0.00006
|
|
NM_000540.3(RYR1):c.7229C>T (p.Pro2410Leu)
|
rs145787667
|
0.00006
|
|
NM_000540.3(RYR1):c.7344T>C (p.Gly2448=)
|
rs199813873
|
0.00006
|
|
NM_000540.3(RYR1):c.7839C>T (p.Tyr2613=)
|
rs758413758
|
0.00006
|
|
NM_000540.3(RYR1):c.7992C>T (p.Phe2664=)
|
rs150620191
|
0.00006
|
|
NM_000540.3(RYR1):c.9555-10C>T
|
rs774666035
|
0.00006
|
|
NM_000541.5(SAG):c.468C>T (p.Phe156=)
|
rs375593027
|
0.00006
|
|
NM_000546.6(TP53):c.1015G>A (p.Glu339Lys)
|
rs17882252
|
0.00006
|
|
NM_000546.6(TP53):c.248C>T (p.Ala83Val)
|
rs201717599
|
0.00006
|
|
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys)
|
rs760489473
|
0.00006
|
|
NM_000642.3(AGL):c.2607A>G (p.Gln869=)
|
rs747817359
|
0.00006
|
|
NM_000642.3(AGL):c.609A>G (p.Lys203=)
|
rs186709388
|
0.00006
|
|
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln)
|
rs749866545
|
0.00006
|
|
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser)
|
rs145080072
|
0.00006
|
|
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)
|
rs199691576
|
0.00006
|
|
NM_000823.4(GHRHR):c.138G>A (p.Glu46=)
|
rs375206873
|
0.00006
|
|
NM_000875.5(IGF1R):c.1692C>T (p.Pro564=)
|
rs9282723
|
0.00006
|
|
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala)
|
rs201105914
|
0.00006
|
|
NM_001001331.4(ATP2B2):c.1627G>A (p.Ala543Thr)
|
rs777396418
|
0.00006
|
|
NM_001003841.3(SLC6A19):c.1117G>A (p.Ala373Thr)
|
rs775834401
|
0.00006
|
|
NM_001003841.3(SLC6A19):c.812C>T (p.Ala271Val)
|
rs374976872
|
0.00006
|
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
|
NM_001006658.3(CR2):c.818-4C>T
|
rs370106455
|
0.00006
|
|
NM_001018115.3(FANCD2):c.4186-13C>T
|
rs755767180
|
0.00006
|
|
NM_001032386.2(SUOX):c.50+9G>A
|
rs368327991
|
0.00006
|
|
NM_001035.3(RYR2):c.1511G>A (p.Arg504His)
|
rs201600087
|
0.00006
|
|
NM_001035.3(RYR2):c.2772G>A (p.Leu924=)
|
rs780664060
|
0.00006
|
|
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn)
|
rs761770946
|
0.00006
|
|
NM_001035.3(RYR2):c.848+8G>C
|
rs373075790
|
0.00006
|
|
NM_001036.6(RYR3):c.13207C>T (p.Leu4403=)
|
rs369324246
|
0.00006
|
|
NM_001040108.2(MLH3):c.277C>G (p.Arg93Gly)
|
rs28756978
|
0.00006
|
|
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu)
|
rs370248734
|
0.00006
|
|
NM_001048174.2(MUTYH):c.305-13C>G
|
rs201207780
|
0.00006
|
|
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=)
|
rs730881838
|
0.00006
|
|
NM_001079668.3(NKX2-1):c.1054G>A (p.Gly352Ser)
|
rs200560568
|
0.00006
|
|
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys)
|
rs140812286
|
0.00006
|
|
NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=)
|
rs372455508
|
0.00006
|
|
NM_001082971.2(DDC):c.315+11G>A
|
rs753275419
|
0.00006
|
|
NM_001082971.2(DDC):c.816A>C (p.Ala272=)
|
rs767990522
|
0.00006
|
|
NM_001083116.3(PRF1):c.189A>C (p.Thr63=)
|
rs759983785
|
0.00006
|
|
NM_001084.5(PLOD3):c.805G>A (p.Val269Ile)
|
rs377320080
|
0.00006
|
|
NM_001089.3(ABCA3):c.2415-4T>G
|
rs201775187
|
0.00006
|
|
NM_001113525.2(ZNF276):c.*2634C>T
|
rs34476949
|
0.00006
|
|
NM_001114134.2(EPB42):c.1075+7C>A
|
rs761030391
|
0.00006
|
|
NM_001114753.3(ENG):c.1852+42C>T
|
rs779974705
|
0.00006
|
|
NM_001126121.2(SLC25A19):c.135T>A (p.Leu45=)
|
rs373190423
|
0.00006
|
|
NM_001128225.3(SLC39A13):c.1090G>T (p.Val364Leu)
|
rs542593908
|
0.00006
|
|
NM_001128228.3(TPRN):c.1726-7C>T
|
rs377461469
|
0.00006
|
|
NM_001128840.3(CACNA1D):c.789C>G (p.Ser263=)
|
rs369697705
|
0.00006
|
|
NM_001128840.3(CACNA1D):c.962G>A (p.Gly321Glu)
|
rs763483604
|
0.00006
|
|
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val)
|
rs146588926
|
0.00006
|
|
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn)
|
rs182185801
|
0.00006
|
|
NM_001130987.2(DYSF):c.799G>A (p.Val267Met)
|
rs750724439
|
0.00006
|
|
NM_001134363.3(RBM20):c.1161G>A (p.Ala387=)
|
rs374299043
|
0.00006
|
|
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln)
|
rs138926584
|
0.00006
|
|
NM_001134363.3(RBM20):c.2359G>A (p.Glu787Lys)
|
rs886038886
|
0.00006
|
|
NM_001134363.3(RBM20):c.2579A>G (p.Glu860Gly)
|
rs758720475
|
0.00006
|
|
NM_001134363.3(RBM20):c.3574-7T>G
|
rs397516616
|
0.00006
|
|
NM_001134363.3(RBM20):c.442G>A (p.Gly148Ser)
|
rs375200447
|
0.00006
|
|
NM_001134407.3(GRIN2A):c.2909G>A (p.Arg970Gln)
|
rs148669437
|
0.00006
|
|
NM_001134407.3(GRIN2A):c.4170G>A (p.Ser1390=)
|
rs1057522803
|
0.00006
|
|
NM_001136193.2(FASTKD2):c.1778C>T (p.Ser593Leu)
|
rs150016888
|
0.00006
|
|
NM_001142800.2(EYS):c.-209C>T
|
rs1004023794
|
0.00006
|
|
NM_001142800.2(EYS):c.1461A>T (p.Gly487=)
|
rs376870255
|
0.00006
|
|
NM_001160372.4(TRAPPC9):c.2245C>T (p.Leu749=)
|
rs375545861
|
0.00006
|
|
NM_001160372.4(TRAPPC9):c.3055+10C>T
|
rs571622542
|
0.00006
|
|
NM_001164277.2(SLC37A4):c.1125-7_1125-6del
|
rs782342989
|
0.00006
|
|
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His)
|
rs556930902
|
0.00006
|
|
NM_001164508.2(NEB):c.17118C>T (p.Asp5706=)
|
rs769476760
|
0.00006
|
|
NM_001164508.2(NEB):c.17628C>T (p.Leu5876=)
|
rs377183242
|
0.00006
|
|
NM_001164508.2(NEB):c.18746A>G (p.Asn6249Ser)
|
rs550191566
|
0.00006
|
|
NM_001164508.2(NEB):c.19139A>G (p.Lys6380Arg)
|
rs757621444
|
0.00006
|
|
NM_001164508.2(NEB):c.19477G>A (p.Val6493Met)
|
rs1233717326
|
0.00006
|
|
NM_001164508.2(NEB):c.19535T>C (p.Ile6512Thr)
|
rs751483486
|
0.00006
|
|
NM_001164508.2(NEB):c.19576G>A (p.Asp6526Asn)
|
rs201731351
|
0.00006
|
|
NM_001164508.2(NEB):c.19674C>T (p.Tyr6558=)
|
rs201515651
|
0.00006
|
|
NM_001164508.2(NEB):c.2020G>A (p.Val674Ile)
|
rs775553284
|
0.00006
|
|
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His)
|
rs755370356
|
0.00006
|
|
NM_001164508.2(NEB):c.20441G>A (p.Arg6814His)
|
rs773584363
|
0.00006
|
|
NM_001164508.2(NEB):c.21215A>G (p.Tyr7072Cys)
|
rs763554121
|
0.00006
|
|
NM_001164508.2(NEB):c.22037A>T (p.Asn7346Ile)
|
rs140982447
|
0.00006
|
|
NM_001164508.2(NEB):c.2215A>G (p.Thr739Ala)
|
rs754959175
|
0.00006
|
|
NM_001164508.2(NEB):c.22187A>G (p.Lys7396Arg)
|
rs201548700
|
0.00006
|
|
NM_001164508.2(NEB):c.23048T>C (p.Ile7683Thr)
|
rs374941096
|
0.00006
|
|
NM_001164508.2(NEB):c.23051G>A (p.Arg7684His)
|
rs372699411
|
0.00006
|
|
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile)
|
rs758996758
|
0.00006
|
|
NM_001164508.2(NEB):c.24909T>C (p.Gly8303=)
|
rs754365974
|
0.00006
|
|
NM_001164508.2(NEB):c.25368G>A (p.Thr8456=)
|
rs200083849
|
0.00006
|
|
NM_001164508.2(NEB):c.4103G>A (p.Arg1368His)
|
rs201984572
|
0.00006
|
|
NM_001164508.2(NEB):c.5300C>T (p.Pro1767Leu)
|
rs370000978
|
0.00006
|
|
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=)
|
rs150496369
|
0.00006
|
|
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly)
|
rs149430473
|
0.00006
|
|
NM_001164508.2(NEB):c.7953C>T (p.Ser2651=)
|
rs183764569
|
0.00006
|
|
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg)
|
rs201119402
|
0.00006
|
|
NM_001164508.2(NEB):c.9055G>A (p.Ala3019Thr)
|
rs370738668
|
0.00006
|
|
NM_001164508.2(NEB):c.9468T>C (p.Ile3156=)
|
rs751747575
|
0.00006
|
|
NM_001170629.2(CHD8):c.6473G>A (p.Arg2158His)
|
rs745375504
|
0.00006
|
|
NM_001171155.2(PET100):c.197T>C (p.Leu66Pro)
|
rs570620177
|
0.00006
|
|
NM_001174150.2(ARL13B):c.30C>T (p.Gly10=)
|
rs375770842
|
0.00006
|
|
NM_001177701.3(IFT27):c.547C>T (p.Arg183Trp)
|
rs150387982
|
0.00006
|
|
NM_001182.5(ALDH7A1):c.1016A>G (p.His339Arg)
|
rs199767457
|
0.00006
|
|
NM_001195248.2(APTX):c.771-5A>G
|
rs751250105
|
0.00006
|
|
NM_001220.5(CAMK2B):c.1556C>T (p.Pro519Leu)
|
rs776719958
|
0.00006
|
|
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=)
|
rs142315181
|
0.00006
|
|
NM_001256317.3(TMPRSS3):c.915C>T (p.Ile305=)
|
rs774844255
|
0.00006
|
|
NM_001256545.2(MEGF10):c.417C>T (p.Cys139=)
|
rs148349018
|
0.00006
|
|
NM_001277115.2(DNAH11):c.1147C>T (p.Arg383Trp)
|
rs200648006
|
0.00006
|
|
NM_001277115.2(DNAH11):c.1711-4A>T
|
rs372207653
|
0.00006
|
|
NM_001277115.2(DNAH11):c.2328G>A (p.Thr776=)
|
rs372387032
|
0.00006
|
|
NM_001277115.2(DNAH11):c.9280G>A (p.Glu3094Lys)
|
rs368259931
|
0.00006
|
|
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=)
|
rs200768501
|
0.00006
|
|
NM_001286577.2(C2CD3):c.1964C>A (p.Pro655Gln)
|
rs555646012
|
0.00006
|
|
NM_001286577.2(C2CD3):c.2594C>G (p.Ser865Cys)
|
rs148264086
|
0.00006
|
|
NM_001288705.3(CSF1R):c.2129G>A (p.Arg710His)
|
rs201569135
|
0.00006
|
|
NM_001291303.3(FAT4):c.12499G>A (p.Ala4167Thr)
|
rs369432764
|
0.00006
|
|
NM_001291303.3(FAT4):c.2273C>T (p.Ala758Val)
|
rs570502199
|
0.00006
|
|
NM_001292063.2(OTOG):c.6405C>T (p.Thr2135=)
|
rs187255209
|
0.00006
|
|
NM_001303.4(COX10):c.260C>T (p.Thr87Ile)
|
rs144000161
|
0.00006
|
|
NM_001330078.2(NRXN1):c.2253A>G (p.Ala751=)
|
rs199648817
|
0.00006
|
|
NM_001330078.2(NRXN1):c.4004C>T (p.Thr1335Ile)
|
rs200672080
|
0.00006
|
|
NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=)
|
rs151195816
|
0.00006
|
|
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=)
|
rs150263699
|
0.00006
|
|
NM_001360.3(DHCR7):c.1011C>T (p.Ala337=)
|
rs369382960
|
0.00006
|
|
NM_001363.5(DKC1):c.1167G>A (p.Lys389=)
|
rs369066088
|
0.00006
|
|
NM_001363711.2(DUOX2):c.1933G>T (p.Asp645Tyr)
|
rs773358950
|
0.00006
|
|
NM_001367624.2(ZNF469):c.1663G>A (p.Asp555Asn)
|
rs749179728
|
0.00006
|
|
NM_001367624.2(ZNF469):c.2119C>T (p.Arg707Cys)
|
rs188954563
|
0.00006
|
|
NM_001367624.2(ZNF469):c.6236C>T (p.Ser2079Phe)
|
rs765190704
|
0.00006
|
|
NM_001369.3(DNAH5):c.1290A>G (p.Glu430=)
|
rs990691780
|
0.00006
|
|
NM_001369.3(DNAH5):c.13689G>C (p.Leu4563Phe)
|
rs374221053
|
0.00006
|
|
NM_001369.3(DNAH5):c.1436G>A (p.Arg479His)
|
rs150601733
|
0.00006
|
|
NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met)
|
rs201020293
|
0.00006
|
|
NM_001369.3(DNAH5):c.2708A>C (p.Asn903Thr)
|
rs749503841
|
0.00006
|
|
NM_001369.3(DNAH5):c.2861A>C (p.Glu954Ala)
|
rs753696648
|
0.00006
|
|
NM_001369.3(DNAH5):c.3656G>A (p.Arg1219His)
|
rs73055857
|
0.00006
|
|
NM_001369.3(DNAH5):c.3895G>T (p.Val1299Phe)
|
rs767853104
|
0.00006
|
|
NM_001369.3(DNAH5):c.660+9G>A
|
rs762915801
|
0.00006
|
|
NM_001369.3(DNAH5):c.6747C>T (p.Phe2249=)
|
rs568499996
|
0.00006
|
|
NM_001369.3(DNAH5):c.7091G>C (p.Gly2364Ala)
|
rs373657849
|
0.00006
|
|
NM_001369.3(DNAH5):c.7741A>G (p.Lys2581Glu)
|
rs142302585
|
0.00006
|
|
NM_001369.3(DNAH5):c.7752+3A>G
|
rs200385399
|
0.00006
|
|
NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile)
|
rs770453841
|
0.00006
|
|
NM_001371986.1(UNC80):c.4763G>A (p.Arg1588Gln)
|
rs182597438
|
0.00006
|
|
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys)
|
rs200076785
|
0.00006
|
|
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser)
|
rs148607670
|
0.00006
|
|
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg)
|
rs774806132
|
0.00006
|
|
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu)
|
rs189533535
|
0.00006
|
|
NM_001378452.1(ITPR1):c.4572C>T (p.Gly1524=)
|
rs200605212
|
0.00006
|
|
NM_001378778.1(MPDZ):c.2776G>A (p.Ala926Thr)
|
rs144992780
|
0.00006
|
|
NM_001378964.1(CDON):c.2836T>C (p.Leu946=)
|
rs144054280
|
0.00006
|
|
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)
|
rs150401343
|
0.00006
|
|
NM_001379081.2(FREM1):c.4879G>T (p.Ala1627Ser)
|
rs370198850
|
0.00006
|
|
NM_001384140.1(PCDH15):c.3225T>C (p.Asn1075=)
|
rs746404657
|
0.00006
|
|
NM_001384140.1(PCDH15):c.3807-6T>G
|
rs727504791
|
0.00006
|
|
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=)
|
rs398124433
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=)
|
rs533251927
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.4376-6G>A
|
rs369463541
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.4741-11C>G
|
rs181095005
|
0.00006
|
|
NM_001384479.1(AGT):c.1345C>T (p.Arg449Cys)
|
rs375261929
|
0.00006
|
|
NM_001387430.1(SH2B1):c.1898-252G>A
|
rs769627655
|
0.00006
|
|
NM_001395413.1(POR):c.229-5C>T
|
rs782035827
|
0.00006
|
|
NM_001395413.1(POR):c.420C>T (p.Tyr140=)
|
rs368468521
|
0.00006
|
|
NM_001395413.1(POR):c.504C>T (p.Phe168=)
|
rs372715546
|
0.00006
|
|
NM_001457.4(FLNB):c.1688T>C (p.Ile563Thr)
|
rs145891515
|
0.00006
|
|
NM_001457.4(FLNB):c.3138C>T (p.His1046=)
|
rs371901421
|
0.00006
|
|
NM_001457.4(FLNB):c.5380G>A (p.Gly1794Arg)
|
rs149600652
|
0.00006
|
|
NM_001457.4(FLNB):c.5843G>A (p.Arg1948Gln)
|
rs143752722
|
0.00006
|
|
NM_001457.4(FLNB):c.7164C>T (p.Ser2388=)
|
rs757418085
|
0.00006
|
|
NM_001458.5(FLNC):c.3887C>T (p.Ser1296Leu)
|
rs747587140
|
0.00006
|
|
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met)
|
rs140857707
|
0.00006
|
|
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys)
|
rs374973240
|
0.00006
|
|
NM_001498.4(GCLC):c.1486G>T (p.Ala496Ser)
|
rs147154581
|
0.00006
|
|
NM_001540.5(HSPB1):c.210G>A (p.Ala70=)
|
rs749963653
|
0.00006
|
|
NM_001673.5(ASNS):c.1464C>T (p.Tyr488=)
|
rs768064875
|
0.00006
|
|
NM_001844.5(COL2A1):c.3435+18C>T
|
rs375024988
|
0.00006
|
|
NM_001844.5(COL2A1):c.4136G>A (p.Arg1379His)
|
rs754487319
|
0.00006
|
|
NM_001846.4(COL4A2):c.1957G>A (p.Ala653Thr)
|
rs199875726
|
0.00006
|
|
NM_001846.4(COL4A2):c.965G>A (p.Arg322Gln)
|
rs201640075
|
0.00006
|
|
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met)
|
rs769795690
|
0.00006
|
|
NM_001851.6(COL9A1):c.635T>C (p.Ile212Thr)
|
rs141776183
|
0.00006
|
|
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)
|
rs201847956
|
0.00006
|
|
NM_001853.4(COL9A3):c.1748G>A (p.Arg583His)
|
rs201219004
|
0.00006
|
|
NM_001854.4(COL11A1):c.3600+8G>A
|
rs188045535
|
0.00006
|
|
NM_001854.4(COL11A1):c.3984A>G (p.Gln1328=)
|
rs767276283
|
0.00006
|
|
NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro)
|
rs775587076
|
0.00006
|
|
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile)
|
rs199878637
|
0.00006
|
|
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr)
|
rs142369181
|
0.00006
|
|
NM_001875.5(CPS1):c.4173G>A (p.Thr1391=)
|
rs201710257
|
0.00006
|
|
NM_001876.4(CPT1A):c.598A>G (p.Lys200Glu)
|
rs201425412
|
0.00006
|
|
NM_001987.5(ETV6):c.1133G>A (p.Arg378Gln)
|
rs146280653
|
0.00006
|
|
NM_001999.4(FBN2):c.2508G>A (p.Thr836=)
|
rs372872626
|
0.00006
|
|
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser)
|
rs374507398
|
0.00006
|
|
NM_002103.5(GYS1):c.1332C>T (p.Cys444=)
|
rs377125421
|
0.00006
|
|
NM_002185.5(IL7R):c.1007A>G (p.Glu336Gly)
|
rs770237630
|
0.00006
|
|
NM_002225.5(IVD):c.784+13G>A
|
rs369694967
|
0.00006
|
|
NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=)
|
rs368537434
|
0.00006
|
|
NM_002292.4(LAMB2):c.915+6G>A
|
rs2071677
|
0.00006
|
|
NM_002335.4(LRP5):c.4272C>T (p.His1424=)
|
rs145226802
|
0.00006
|
|
NM_002435.3(MPI):c.1269G>A (p.Leu423=)
|
rs371664469
|
0.00006
|
|
NM_002439.5(MSH3):c.1258A>G (p.Ser420Gly)
|
rs55660516
|
0.00006
|
|
NM_002473.6(MYH9):c.2907C>T (p.Thr969=)
|
rs767461889
|
0.00006
|
|
NM_002473.6(MYH9):c.3676C>T (p.Arg1226Trp)
|
rs375797448
|
0.00006
|
|
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp)
|
rs375955867
|
0.00006
|
|
NM_002473.6(MYH9):c.4753A>C (p.Lys1585Gln)
|
rs149169068
|
0.00006
|
|
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)
|
rs190546350
|
0.00006
|
|
NM_002485.5(NBN):c.1398-10T>A
|
rs539960851
|
0.00006
|
|
NM_002506.3(NGF):c.552C>T (p.Pro184=)
|
rs532714783
|
0.00006
|
|
NM_002529.4(NTRK1):c.1522C>A (p.Arg508=)
|
rs200575096
|
0.00006
|
|
NM_002529.4(NTRK1):c.2113A>T (p.Thr705Ser)
|
rs200935209
|
0.00006
|
|
NM_002529.4(NTRK1):c.2231G>A (p.Arg744His)
|
rs751281792
|
0.00006
|
|
NM_002529.4(NTRK1):c.470G>A (p.Arg157His)
|
rs141021604
|
0.00006
|
|
NM_002529.4(NTRK1):c.575-15G>A
|
rs762788551
|
0.00006
|
|
NM_002529.4(NTRK1):c.850+11G>A
|
rs372293237
|
0.00006
|
|
NM_002617.4(PEX10):c.555C>T (p.His185=)
|
rs75377471
|
0.00006
|
|
NM_002633.3(PGM1):c.442T>G (p.Phe148Val)
|
rs755467080
|
0.00006
|
|
NM_002691.4(POLD1):c.2717+15G>A
|
rs372493810
|
0.00006
|
|
NM_002691.4(POLD1):c.3218+5G>A
|
rs569395274
|
0.00006
|
|
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu)
|
rs201550522
|
0.00006
|
|
NM_002857.4(PEX19):c.347-7C>T
|
rs753523567
|
0.00006
|
|
NM_002863.5(PYGL):c.1758G>A (p.Thr586=)
|
rs755485474
|
0.00006
|
|
NM_002878.4(RAD51D):c.263+1641C>T
|
rs142387263
|
0.00006
|
|
NM_002979.5(SCP2):c.1632C>T (p.Asn544=)
|
rs143534838
|
0.00006
|
|
NM_002979.5(SCP2):c.855A>G (p.Ala285=)
|
rs185811440
|
0.00006
|
|
NM_003073.5(SMARCB1):c.585C>T (p.Ile195=)
|
rs757546528
|
0.00006
|
|
NM_003073.5(SMARCB1):c.987-4G>A
|
rs745773662
|
0.00006
|
|
NM_003119.4(SPG7):c.1236G>A (p.Ala412=)
|
rs201129878
|
0.00006
|
|
NM_003119.4(SPG7):c.1325-6C>T
|
rs371986686
|
0.00006
|
|
NM_003126.4(SPTA1):c.5311-4T>A
|
rs544472935
|
0.00006
|
|
NM_003190.5(TAPBP):c.591G>A (p.Pro197=)
|
rs200497341
|
0.00006
|
|
NM_003193.5(TBCE):c.898+5A>T
|
rs182294717
|
0.00006
|
|
NM_003331.5(TYK2):c.2176-9C>T
|
rs370673325
|
0.00006
|
|
NM_003465.3(CHIT1):c.1295G>A (p.Arg432Gln)
|
rs202003206
|
0.00006
|
|
NM_003482.4(KMT2D):c.12270G>A (p.Gln4090=)
|
rs370665309
|
0.00006
|
|
NM_003482.4(KMT2D):c.13531-10T>C
|
rs769029919
|
0.00006
|
|
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=)
|
rs201238945
|
0.00006
|
|
NM_003690.5(PRKRA):c.796G>A (p.Ala266Thr)
|
rs148050153
|
0.00006
|
|
NM_003721.4(RFXANK):c.338-13C>G
|
rs749579925
|
0.00006
|
|
NM_003737.4(DCHS1):c.5363G>A (p.Arg1788His)
|
rs753184200
|
0.00006
|
|
NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro)
|
rs80168454
|
0.00006
|
|
NM_003742.4(ABCB11):c.1465C>G (p.Leu489Val)
|
rs944713270
|
0.00006
|
|
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)
|
rs201800225
|
0.00006
|
|
NM_003742.4(ABCB11):c.2616C>T (p.Ala872=)
|
rs528640585
|
0.00006
|
|
NM_003742.4(ABCB11):c.3407A>G (p.Lys1136Arg)
|
rs752974260
|
0.00006
|
|
NM_003742.4(ABCB11):c.3412-7T>C
|
rs757040670
|
0.00006
|
|
NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys)
|
rs199841445
|
0.00006
|
|
NM_003816.3(ADAM9):c.1074T>C (p.Asp358=)
|
rs202060547
|
0.00006
|
|
NM_003839.4(TNFRSF11A):c.1296G>A (p.Pro432=)
|
rs547088539
|
0.00006
|
|
NM_003839.4(TNFRSF11A):c.423C>T (p.His141=)
|
rs763226980
|
0.00006
|
|
NM_003859.3(DPM1):c.286T>C (p.Leu96=)
|
rs780244460
|
0.00006
|
|
NM_003906.5(MCM3AP):c.4319C>T (p.Ala1440Val)
|
rs771441002
|
0.00006
|
|
NM_003977.4(AIP):c.403C>T (p.His135Tyr)
|
rs150487522
|
0.00006
|
|
NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=)
|
rs760234757
|
0.00006
|
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
|
NM_004064.5(CDKN1B):c.225G>C (p.Glu75Asp)
|
rs139727620
|
0.00006
|
|
NM_004100.5(EYA4):c.1338A>G (p.Leu446=)
|
rs200309400
|
0.00006
|
|
NM_004187.5(KDM5C):c.1902C>A (p.Arg634=)
|
rs373931846
|
0.00006
|
|
NM_004260.4(RECQL4):c.862G>A (p.Gly288Arg)
|
rs199706417
|
0.00006
|
|
NM_004281.4(BAG3):c.1166G>A (p.Ser389Asn)
|
rs140251789
|
0.00006
|
|
NM_004281.4(BAG3):c.1523A>G (p.Tyr508Cys)
|
rs747583925
|
0.00006
|
|
NM_004281.4(BAG3):c.487C>T (p.Pro163Ser)
|
rs746956979
|
0.00006
|
|
NM_004281.4(BAG3):c.574G>A (p.Gly192Ser)
|
rs201487919
|
0.00006
|
|
NM_004320.6(ATP2A1):c.1935C>T (p.Asn645=)
|
rs754620899
|
0.00006
|
|
NM_004360.5(CDH1):c.2136G>T (p.Gly712=)
|
rs763402728
|
0.00006
|
|
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)
|
rs35606263
|
0.00006
|
|
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp)
|
rs587780119
|
0.00006
|
|
NM_004360.5(CDH1):c.49-3C>T
|
rs587782366
|
0.00006
|
|
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His)
|
rs369193482
|
0.00006
|
|
NM_004370.6(COL12A1):c.2746A>G (p.Ile916Val)
|
rs200819563
|
0.00006
|
|
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys)
|
rs773113261
|
0.00006
|
|
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val)
|
rs753270443
|
0.00006
|
|
NM_004415.4(DSP):c.4022G>A (p.Arg1341His)
|
rs112242645
|
0.00006
|
|
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)
|
rs200745877
|
0.00006
|
|
NM_004544.4(NDUFA10):c.1005G>A (p.Pro335=)
|
rs778173280
|
0.00006
|
|
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr)
|
rs142386294
|
0.00006
|
|
NM_004560.4(ROR2):c.2445G>A (p.Pro815=)
|
rs202010959
|
0.00006
|
|
NM_004667.6(HERC2):c.13566G>A (p.Pro4522=)
|
rs574228980
|
0.00006
|
|
NM_004817.4(TJP2):c.2334C>T (p.Thr778=)
|
rs183285809
|
0.00006
|
|
NM_004817.4(TJP2):c.2880+17C>T
|
rs778212657
|
0.00006
|
|
NM_005045.4(RELN):c.1669T>G (p.Phe557Val)
|
rs757726526
|
0.00006
|
|
NM_005045.4(RELN):c.3191C>G (p.Ala1064Gly)
|
rs565236668
|
0.00006
|
|
NM_005045.4(RELN):c.5246A>G (p.Asn1749Ser)
|
rs755596079
|
0.00006
|
|
NM_005207.4(CRKL):c.840C>T (p.Asn280=)
|
rs769606385
|
0.00006
|
|
NM_005419.4(STAT2):c.903C>T (p.Asn301=)
|
rs145152331
|
0.00006
|
|
NM_005422.4(TECTA):c.1621G>A (p.Val541Met)
|
rs370652301
|
0.00006
|
|
NM_005422.4(TECTA):c.841G>A (p.Val281Ile)
|
rs142205703
|
0.00006
|
|
NM_005502.4(ABCA1):c.1997G>A (p.Arg666Gln)
|
rs142374413
|
0.00006
|
|
NM_005518.4(HMGCS2):c.1420+13T>C
|
rs771878586
|
0.00006
|
|
NM_005529.7(HSPG2):c.11770+10G>A
|
rs746954804
|
0.00006
|
|
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=)
|
rs573932867
|
0.00006
|
|
NM_005529.7(HSPG2):c.2558+10A>G
|
rs756733330
|
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_005529.7(HSPG2):c.9291C>T (p.Tyr3097=)
|
rs534949106
|
0.00006
|
|
NM_005566.4(LDHA):c.406G>A (p.Val136Ile)
|
rs184074326
|
0.00006
|
|
NM_005591.4(MRE11):c.777G>A (p.Gln259=)
|
rs774144789
|
0.00006
|
|
NM_005609.4(PYGM):c.1239+12G>A
|
rs760471706
|
0.00006
|
|
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=)
|
rs140102591
|
0.00006
|
|
NM_005677.4(COLQ):c.912C>T (p.Tyr304=)
|
rs886058099
|
0.00006
|
|
NM_005787.6(ALG3):c.297-6T>C
|
rs371534425
|
0.00006
|
|
NM_006005.3(WFS1):c.1392C>T (p.Thr464=)
|
rs565697340
|
0.00006
|
|
NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile)
|
rs372663248
|
0.00006
|
|
NM_006005.3(WFS1):c.1656C>T (p.Thr552=)
|
rs141477172
|
0.00006
|
|
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly)
|
rs71524360
|
0.00006
|
|
NM_006005.3(WFS1):c.2181C>T (p.Ile727=)
|
rs140286718
|
0.00006
|
|
NM_006005.3(WFS1):c.2208C>T (p.Gly736=)
|
rs141020933
|
0.00006
|
|
NM_006005.3(WFS1):c.2359G>A (p.Ala787Thr)
|
rs571946670
|
0.00006
|
|
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser)
|
rs760256649
|
0.00006
|
|
NM_006005.3(WFS1):c.449C>T (p.Ala150Val)
|
rs113651985
|
0.00006
|
|
NM_006005.3(WFS1):c.504C>T (p.Ser168=)
|
rs71537675
|
0.00006
|
|
NM_006012.4(CLPP):c.340C>T (p.Pro114Ser)
|
rs771668786
|
0.00006
|
|
NM_006015.6(ARID1A):c.1715C>T (p.Thr572Met)
|
rs778345898
|
0.00006
|
|
NM_006031.6(PCNT):c.405C>T (p.Val135=)
|
rs371917839
|
0.00006
|
|
NM_006031.6(PCNT):c.6651G>T (p.Gly2217=)
|
rs755119869
|
0.00006
|
|
NM_006031.6(PCNT):c.930C>T (p.His310=)
|
rs778056605
|
0.00006
|
|
NM_006031.6(PCNT):c.9826C>T (p.His3276Tyr)
|
rs202170105
|
0.00006
|
|
NM_006059.4(LAMC3):c.4660C>T (p.Arg1554Cys)
|
rs375971925
|
0.00006
|
|
NM_006096.4(NDRG1):c.270C>T (p.Ala90=)
|
rs200328537
|
0.00006
|
|
NM_006206.6(PDGFRA):c.2742G>C (p.Arg914=)
|
rs56384252
|
0.00006
|
|
NM_006206.6(PDGFRA):c.827C>T (p.Thr276Met)
|
rs142492533
|
0.00006
|
|
NM_006208.3(ENPP1):c.2088C>T (p.Thr696=)
|
rs142835743
|
0.00006
|
|
NM_006231.4(POLE):c.1106+20A>G
|
rs200322118
|
0.00006
|
|
NM_006231.4(POLE):c.2468+12C>T
|
rs776938447
|
0.00006
|
|
NM_006231.4(POLE):c.3459+8C>T
|
rs375852759
|
0.00006
|
|
NM_006231.4(POLE):c.5553-12C>G
|
rs766922669
|
0.00006
|
|
NM_006348.5(COG5):c.2168+9G>A
|
rs746107488
|
0.00006
|
|
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00006
|
|
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met)
|
rs200828053
|
0.00006
|
|
NM_006516.4(SLC2A1):c.799G>A (p.Ala267Thr)
|
rs199639208
|
0.00006
|
|
NM_006767.4(LZTR1):c.372C>T (p.Val124=)
|
rs371891909
|
0.00006
|
|
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu)
|
rs78633961
|
0.00006
|
|
NM_006892.4(DNMT3B):c.143-9C>G
|
rs377138079
|
0.00006
|
|
NM_006892.4(DNMT3B):c.1996+7A>G
|
rs556202476
|
0.00006
|
|
NM_006922.4(SCN3A):c.1813G>A (p.Glu605Lys)
|
rs755167692
|
0.00006
|
|
NM_006922.4(SCN3A):c.2077A>G (p.Met693Val)
|
rs138331141
|
0.00006
|
|
NM_006922.4(SCN3A):c.5394A>G (p.Glu1798=)
|
rs746501220
|
0.00006
|
|
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln)
|
rs780580623
|
0.00006
|
|
NM_006941.4(SOX10):c.1077G>C (p.Glu359Asp)
|
rs764180850
|
0.00006
|
|
NM_006946.4(SPTBN2):c.1336C>T (p.Arg446Cys)
|
rs147422843
|
0.00006
|
|
NM_006946.4(SPTBN2):c.1653+13C>T
|
rs376349935
|
0.00006
|
|
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp)
|
rs755595060
|
0.00006
|
|
NM_006946.4(SPTBN2):c.6755G>A (p.Arg2252His)
|
rs529514462
|
0.00006
|
|
NM_007103.4(NDUFV1):c.249G>A (p.Ser83=)
|
rs773832212
|
0.00006
|
|
NM_007215.4(POLG2):c.694G>A (p.Gly232Ser)
|
rs143660836
|
0.00006
|
|
NM_007272.3(CTRC):c.41-5C>A
|
rs781284605
|
0.00006
|
|
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile)
|
rs587782770
|
0.00006
|
|
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln)
|
rs55930959
|
0.00006
|
|
NM_007375.4(TARDBP):c.669C>G (p.Pro223=)
|
rs149517613
|
0.00006
|
|
NM_012144.4(DNAI1):c.1371C>T (p.Asp457=)
|
rs113249236
|
0.00006
|
|
NM_012144.4(DNAI1):c.1417A>G (p.Ile473Val)
|
rs199774301
|
0.00006
|
|
NM_012179.4(FBXO7):c.1506T>C (p.Asn502=)
|
rs765344006
|
0.00006
|
|
NM_012233.3(RAB3GAP1):c.816C>T (p.Cys272=)
|
rs199898437
|
0.00006
|
|
NM_012452.3(TNFRSF13B):c.593G>A (p.Arg198His)
|
rs150974807
|
0.00006
|
|
NM_012472.6(DNAAF11):c.974+14C>A
|
rs780037666
|
0.00006
|
|
NM_013247.5(HTRA2):c.1056C>T (p.Ser352=)
|
rs781540048
|
0.00006
|
|
NM_013296.5(GPSM2):c.1909C>T (p.Arg637Trp)
|
rs189033496
|
0.00006
|
|
NM_013339.4(ALG6):c.1314T>C (p.Ile438=)
|
rs146939069
|
0.00006
|
|
NM_013444.4(UBQLN2):c.1420C>G (p.Pro474Ala)
|
rs761503297
|
0.00006
|
|
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=)
|
rs139949668
|
0.00006
|
|
NM_014141.6(CNTNAP2):c.1898-9T>C
|
rs372830287
|
0.00006
|
|
NM_014241.4(HACD1):c.143C>T (p.Thr48Ile)
|
rs864309602
|
0.00006
|
|
NM_014249.4(NR2E3):c.119-8C>T
|
rs373874970
|
0.00006
|
|
NM_014297.5(ETHE1):c.9G>A (p.Glu3=)
|
rs773937760
|
0.00006
|
|
NM_014324.6(AMACR):c.247+9G>T
|
rs1361255226
|
0.00006
|
|
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr)
|
rs201505036
|
0.00006
|
|
NM_014363.6(SACS):c.110G>A (p.Arg37His)
|
rs866539724
|
0.00006
|
|
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val)
|
rs375961779
|
0.00006
|
|
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)
|
rs200707453
|
0.00006
|
|
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)
|
rs144362131
|
0.00006
|
|
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)
|
rs755723511
|
0.00006
|
|
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val)
|
rs200394007
|
0.00006
|
|
NM_014714.4(IFT140):c.3490A>G (p.Met1164Val)
|
rs369425839
|
0.00006
|
|
NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu)
|
rs555330165
|
0.00006
|
|
NM_014714.4(IFT140):c.4266C>T (p.Ala1422=)
|
rs149359139
|
0.00006
|
|
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser)
|
rs369671309
|
0.00006
|
|
NM_014727.3(KMT2B):c.620G>A (p.Arg207Gln)
|
rs369788045
|
0.00006
|
|
NM_014727.3(KMT2B):c.6460G>A (p.Ala2154Thr)
|
rs377080591
|
0.00006
|
|
NM_014780.5(CUL7):c.3747G>A (p.Leu1249=)
|
rs141211365
|
0.00006
|
|
NM_014780.5(CUL7):c.4713C>T (p.Ile1571=)
|
rs368539088
|
0.00006
|
|
NM_014795.4(ZEB2):c.2855G>C (p.Arg952Thr)
|
rs151256895
|
0.00006
|
|
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=)
|
rs752659088
|
0.00006
|
|
NM_014844.5(TECPR2):c.2514G>C (p.Pro838=)
|
rs140913653
|
0.00006
|
|
NM_014855.3(AP5Z1):c.417G>A (p.Ala139=)
|
rs201203264
|
0.00006
|
|
NM_014908.4(DOLK):c.210C>G (p.Val70=)
|
rs750368652
|
0.00006
|
|
NM_015158.5(KANK1):c.95T>C (p.Phe32Ser)
|
rs183362306
|
0.00006
|
|
NM_015192.4(PLCB1):c.2112G>A (p.Leu704=)
|
rs139095432
|
0.00006
|
|
NM_015311.3(OBSL1):c.4609+12G>A
|
rs367810594
|
0.00006
|
|
NM_015570.4(AUTS2):c.3341G>A (p.Arg1114His)
|
rs370456436
|
0.00006
|
|
NM_015662.3(IFT172):c.877G>A (p.Ala293Thr)
|
rs370903625
|
0.00006
|
|
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)
|
rs147318949
|
0.00006
|
|
NM_015909.4(NBAS):c.1903A>T (p.Ile635Phe)
|
rs201269329
|
0.00006
|
|
NM_016219.5(MAN1B1):c.1765-9C>T
|
rs977693376
|
0.00006
|
|
NM_016239.4(MYO15A):c.4561G>C (p.Glu1521Gln)
|
rs769189017
|
0.00006
|
|
NM_016239.4(MYO15A):c.467T>C (p.Val156Ala)
|
rs761670755
|
0.00006
|
|
NM_016239.4(MYO15A):c.5867G>A (p.Arg1956Gln)
|
rs769596933
|
0.00006
|
|
NM_016239.4(MYO15A):c.5893C>T (p.Arg1965Cys)
|
rs374485649
|
0.00006
|
|
NM_016239.4(MYO15A):c.6357G>A (p.Ala2119=)
|
rs374951514
|
0.00006
|
|
NM_016239.4(MYO15A):c.8239G>A (p.Asp2747Asn)
|
rs374160194
|
0.00006
|
|
NM_016247.4(IMPG2):c.1794C>T (p.Asp598=)
|
rs371805004
|
0.00006
|
|
NM_016938.5(EFEMP2):c.363T>C (p.Cys121=)
|
rs746343857
|
0.00006
|
|
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser)
|
rs763621169
|
0.00006
|
|
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser)
|
rs768095251
|
0.00006
|
|
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met)
|
rs573864607
|
0.00006
|
|
NM_017654.4(SAMD9):c.1370A>C (p.Glu457Ala)
|
rs147552284
|
0.00006
|
|
NM_017668.3(NDE1):c.948-3126G>A
|
rs377410503
|
0.00006
|
|
NM_017866.6(TMEM70):c.462C>A (p.Ile154=)
|
rs143954787
|
0.00006
|
|
NM_017882.3(CLN6):c.597C>G (p.Ala199=)
|
rs368546281
|
0.00006
|
|
NM_017934.7(PHIP):c.2667A>T (p.Lys889Asn)
|
rs756471447
|
0.00006
|
|
NM_018026.4(PACS1):c.385G>A (p.Val129Ile)
|
rs115491121
|
0.00006
|
|
NM_018136.5(ASPM):c.4443A>G (p.Leu1481=)
|
rs374040448
|
0.00006
|
|
NM_018646.6(TRPV6):c.402C>T (p.Ala134=)
|
rs387907545
|
0.00006
|
|
NM_018943.3(TUBA8):c.249C>T (p.Tyr83=)
|
rs774431958
|
0.00006
|
|
NM_018979.4(WNK1):c.5144A>G (p.Asn1715Ser)
|
rs756614581
|
0.00006
|
|
NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu)
|
rs201995891
|
0.00006
|
|
NM_019098.5(CNGB3):c.2387A>G (p.Glu796Gly)
|
rs781481819
|
0.00006
|
|
NM_019892.6(INPP5E):c.1104C>T (p.His368=)
|
rs148592275
|
0.00006
|
|
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=)
|
rs145543466
|
0.00006
|
|
NM_020117.11(LARS1):c.3205G>A (p.Val1069Ile)
|
rs777624825
|
0.00006
|
|
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=)
|
rs200651846
|
0.00006
|
|
NM_020184.4(CNNM4):c.1587G>A (p.Lys529=)
|
rs569907931
|
0.00006
|
|
NM_020207.7(ERCC6L2):c.2746G>A (p.Asp916Asn)
|
rs953232395
|
0.00006
|
|
NM_020297.4(ABCC9):c.882G>A (p.Gly294=)
|
rs764574133
|
0.00006
|
|
NM_020461.4(TUBGCP6):c.1719C>T (p.Tyr573=)
|
rs201299983
|
0.00006
|
|
NM_020461.4(TUBGCP6):c.1851C>T (p.Ser617=)
|
rs375913178
|
0.00006
|
|
NM_020461.4(TUBGCP6):c.2065+9C>T
|
rs781746721
|
0.00006
|
|
NM_020533.3(MCOLN1):c.265C>T (p.Leu89=)
|
rs567995024
|
0.00006
|
|
NM_020533.3(MCOLN1):c.783G>A (p.Thr261=)
|
rs200484869
|
0.00006
|
|
NM_020549.5(CHAT):c.1814G>A (p.Arg605His)
|
rs199926163
|
0.00006
|
|
NM_020686.6(ABAT):c.816+19G>A
|
rs147226856
|
0.00006
|
|
NM_020738.4(KIDINS220):c.1600G>T (p.Ala534Ser)
|
rs199536870
|
0.00006
|
|
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)
|
rs1003586835
|
0.00006
|
|
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu)
|
rs147654995
|
0.00006
|
|
NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser)
|
rs387907308
|
0.00006
|
|
NM_020987.5(ANK3):c.2976G>A (p.Ala992=)
|
rs747475542
|
0.00006
|
|
NM_020987.5(ANK3):c.4699G>A (p.Val1567Met)
|
rs180798231
|
0.00006
|
|
NM_021008.4(DEAF1):c.1318G>A (p.Ala440Thr)
|
rs149746031
|
0.00006
|
|
NM_021098.3(CACNA1H):c.4972A>G (p.Ile1658Val)
|
rs375017750
|
0.00006
|
|
NM_021098.3(CACNA1H):c.6412G>A (p.Val2138Met)
|
rs755669926
|
0.00006
|
|
NM_021625.5(TRPV4):c.963C>A (p.Gly321=)
|
rs148534854
|
0.00006
|
|
NM_021629.4(GNB4):c.204-4C>G
|
rs377746889
|
0.00006
|
|
NM_021922.3(FANCE):c.552A>C (p.Pro184=)
|
rs138182352
|
0.00006
|
|
NM_021939.4(FKBP10):c.1269G>A (p.Gly423=)
|
rs371540139
|
0.00006
|
|
NM_021957.4(GYS2):c.1880C>T (p.Ser627Leu)
|
rs182582633
|
0.00006
|
|
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr)
|
rs199661793
|
0.00006
|
|
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)
|
rs143782870
|
0.00006
|
|
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=)
|
rs372172457
|
0.00006
|
|
NM_022124.6(CDH23):c.460G>A (p.Val154Met)
|
rs199741966
|
0.00006
|
|
NM_022124.6(CDH23):c.5037C>T (p.Ile1679=)
|
rs757049933
|
0.00006
|
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
|
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn)
|
rs202147495
|
0.00006
|
|
NM_022124.6(CDH23):c.870C>T (p.Ser290=)
|
rs375292899
|
0.00006
|
|
NM_022124.6(CDH23):c.9058C>T (p.Arg3020Cys)
|
rs181658753
|
0.00006
|
|
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys)
|
rs575678322
|
0.00006
|
|
NM_022437.3(ABCG8):c.1353C>T (p.Leu451=)
|
rs373560827
|
0.00006
|
|
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln)
|
rs759989953
|
0.00006
|
|
NM_022489.4(INF2):c.2755C>G (p.Leu919Val)
|
rs377145979
|
0.00006
|
|
NM_022489.4(INF2):c.3059C>T (p.Ala1020Val)
|
rs368372551
|
0.00006
|
|
NM_024079.5(ALG8):c.984C>A (p.Val328=)
|
rs757467776
|
0.00006
|
|
NM_024120.5(NDUFAF5):c.667A>C (p.Asn223His)
|
rs199543540
|
0.00006
|
|
NM_024589.3(ROGDI):c.822+14G>A
|
rs200558978
|
0.00006
|
|
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile)
|
rs201403389
|
0.00006
|
|
NM_024598.4(USB1):c.213G>A (p.Val71=)
|
rs369515724
|
0.00006
|
|
NM_024598.4(USB1):c.525C>T (p.Val175=)
|
rs956040185
|
0.00006
|
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
|
NM_024675.4(PALB2):c.560C>A (p.Pro187His)
|
rs371582757
|
0.00006
|
|
NM_024675.4(PALB2):c.929G>A (p.Ser310Asn)
|
rs370887726
|
0.00006
|
|
NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys)
|
rs763158250
|
0.00006
|
|
NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser)
|
rs764006601
|
0.00006
|
|
NM_025099.6(CTC1):c.2472C>T (p.Pro824=)
|
rs558802130
|
0.00006
|
|
NM_025137.4(SPG11):c.1008-4C>T
|
rs369112409
|
0.00006
|
|
NM_025137.4(SPG11):c.2082C>T (p.Ser694=)
|
rs375179506
|
0.00006
|
|
NM_025137.4(SPG11):c.3145+12C>T
|
rs375672539
|
0.00006
|
|
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr)
|
rs201842512
|
0.00006
|
|
NM_025137.4(SPG11):c.5270A>G (p.His1757Arg)
|
rs139423939
|
0.00006
|
|
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr)
|
rs200276333
|
0.00006
|
|
NM_025137.4(SPG11):c.7146C>T (p.Ser2382=)
|
rs747227352
|
0.00006
|
|
NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys)
|
rs371313584
|
0.00006
|
|
NM_030665.4(RAI1):c.1488G>A (p.Pro496=)
|
rs727504116
|
0.00006
|
|
NM_030665.4(RAI1):c.3689C>A (p.Ala1230Glu)
|
rs374187267
|
0.00006
|
|
NM_030665.4(RAI1):c.4711G>A (p.Ala1571Thr)
|
rs779651867
|
0.00006
|
|
NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=)
|
rs148470005
|
0.00006
|
|
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg)
|
rs75218052
|
0.00006
|
|
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met)
|
rs372596900
|
0.00006
|
|
NM_030787.4(CFHR5):c.1322G>A (p.Arg441His)
|
rs776063846
|
0.00006
|
|
NM_030787.4(CFHR5):c.242C>T (p.Pro81Leu)
|
rs544857720
|
0.00006
|
|
NM_031372.4(HNRNPDL):c.1097G>C (p.Gly366Ala)
|
rs200123403
|
0.00006
|
|
NM_031433.4(MFRP):c.898+5G>A
|
rs201089284
|
0.00006
|
|
NM_032119.4(ADGRV1):c.12778G>T (p.Val4260Leu)
|
rs773072116
|
0.00006
|
|
NM_032119.4(ADGRV1):c.13228G>A (p.Glu4410Lys)
|
rs371970388
|
0.00006
|
|
NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile)
|
rs369108080
|
0.00006
|
|
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln)
|
rs534266547
|
0.00006
|
|
NM_032119.4(ADGRV1):c.15987C>T (p.Tyr5329=)
|
rs142097643
|
0.00006
|
|
NM_032119.4(ADGRV1):c.1684G>T (p.Ala562Ser)
|
rs199636312
|
0.00006
|
|
NM_032119.4(ADGRV1):c.17075A>G (p.Tyr5692Cys)
|
rs746621216
|
0.00006
|
|
NM_032119.4(ADGRV1):c.17187C>T (p.Cys5729=)
|
rs371639191
|
0.00006
|
|
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser)
|
rs397517427
|
0.00006
|
|
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)
|
rs200058876
|
0.00006
|
|
NM_032119.4(ADGRV1):c.18209C>T (p.Thr6070Met)
|
rs776008411
|
0.00006
|
|
NM_032119.4(ADGRV1):c.3958C>T (p.Arg1320Cys)
|
rs532745096
|
0.00006
|
|
NM_032119.4(ADGRV1):c.8156-6T>C
|
rs574939589
|
0.00006
|
|
NM_032119.4(ADGRV1):c.9661G>A (p.Val3221Met)
|
rs368092861
|
0.00006
|
|
NM_032119.4(ADGRV1):c.9918A>G (p.Ile3306Met)
|
rs1264693693
|
0.00006
|
|
NM_032382.5(COG8):c.996C>T (p.Thr332=)
|
rs571595612
|
0.00006
|
|
NM_032409.3(PINK1):c.267C>T (p.Ala89=)
|
rs770933972
|
0.00006
|
|
NM_032415.7(CARD11):c.2239G>A (p.Val747Ile)
|
rs769577430
|
0.00006
|
|
NM_032415.7(CARD11):c.2899C>T (p.Arg967Cys)
|
rs149857605
|
0.00006
|
|
NM_033100.4(CDHR1):c.1471G>A (p.Val491Met)
|
rs138638103
|
0.00006
|
|
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser)
|
rs151166046
|
0.00006
|
|
NM_033109.5(PNPT1):c.667A>G (p.Lys223Glu)
|
rs752759589
|
0.00006
|
|
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln)
|
rs148458576
|
0.00006
|
|
NM_052845.4(MMAB):c.150G>A (p.Ser50=)
|
rs754357121
|
0.00006
|
|
NM_052989.3(IFT122):c.1758C>G (p.His586Gln)
|
rs141889207
|
0.00006
|
|
NM_053025.4(MYLK):c.1752A>G (p.Leu584=)
|
rs775877814
|
0.00006
|
|
NM_053025.4(MYLK):c.2049G>A (p.Gln683=)
|
rs757464897
|
0.00006
|
|
NM_053025.4(MYLK):c.2627G>A (p.Arg876His)
|
rs537224715
|
0.00006
|
|
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=)
|
rs745568808
|
0.00006
|
|
NM_080680.3(COL11A2):c.2560G>A (p.Ala854Thr)
|
rs371864924
|
0.00006
|
|
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu)
|
rs528009333
|
0.00006
|
|
NM_080680.3(COL11A2):c.3381G>C (p.Glu1127Asp)
|
rs768988213
|
0.00006
|
|
NM_080680.3(COL11A2):c.3950T>C (p.Leu1317Pro)
|
rs145871842
|
0.00006
|
|
NM_080680.3(COL11A2):c.4559G>A (p.Arg1520His)
|
rs772567850
|
0.00006
|
|
NM_080680.3(COL11A2):c.4706G>A (p.Arg1569His)
|
rs749716412
|
0.00006
|
|
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg)
|
rs199546324
|
0.00006
|
|
NM_133433.4(NIPBL):c.6589+9A>T
|
rs370709104
|
0.00006
|
|
NM_133642.5(LARGE1):c.99C>T (p.Ser33=)
|
rs377353667
|
0.00006
|
|
NM_138425.4(C12orf57):c.363C>T (p.Gly121=)
|
rs782694267
|
0.00006
|
|
NM_138477.4(CDAN1):c.2175-12T>C
|
rs1055175847
|
0.00006
|
|
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp)
|
rs201210830
|
0.00006
|
|
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp)
|
rs560133266
|
0.00006
|
|
NM_138694.4(PKHD1):c.2703C>T (p.Asn901=)
|
rs199768081
|
0.00006
|
|
NM_138694.4(PKHD1):c.3628+9C>A
|
rs552339299
|
0.00006
|
|
NM_138694.4(PKHD1):c.3891G>A (p.Ala1297=)
|
rs775529923
|
0.00006
|
|
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu)
|
rs200278368
|
0.00006
|
|
NM_138694.4(PKHD1):c.5772C>T (p.Phe1924=)
|
rs141473212
|
0.00006
|
|
NM_138694.4(PKHD1):c.7163G>A (p.Gly2388Asp)
|
rs371830478
|
0.00006
|
|
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=)
|
rs374869252
|
0.00006
|
|
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val)
|
rs144106341
|
0.00006
|
|
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)
|
rs141081295
|
0.00006
|
|
NM_139343.3(BIN1):c.1359G>A (p.Pro453=)
|
rs201397427
|
0.00006
|
|
NM_139343.3(BIN1):c.1479C>T (p.Val493=)
|
rs773313892
|
0.00006
|
|
NM_144672.4(OTOA):c.1488+8G>A
|
rs375767505
|
0.00006
|
|
NM_144997.7(FLCN):c.1274A>G (p.Gln425Arg)
|
rs786203348
|
0.00006
|
|
NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=)
|
rs141362710
|
0.00006
|
|
NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys)
|
rs782229302
|
0.00006
|
|
NM_153603.4(COG7):c.1851C>T (p.Pro617=)
|
rs748835759
|
0.00006
|
|
NM_153676.4(USH1C):c.1678G>C (p.Ala560Pro)
|
rs367952604
|
0.00006
|
|
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr)
|
rs777459994
|
0.00006
|
|
NM_173354.5(SIK1):c.1934G>A (p.Arg645Gln)
|
rs34614061
|
0.00006
|
|
NM_173630.4(RTTN):c.4564+8C>T
|
rs563328673
|
0.00006
|
|
NM_173689.7(CRB2):c.3754C>T (p.Arg1252Cys)
|
rs537738396
|
0.00006
|
|
NM_174936.4(PCSK9):c.1227C>T (p.Ala409=)
|
rs146924245
|
0.00006
|
|
NM_174936.4(PCSK9):c.658-9G>A
|
rs757194881
|
0.00006
|
|
NM_177438.3(DICER1):c.2720T>C (p.Ile907Thr)
|
rs200408568
|
0.00006
|
|
NM_178170.3(NEK8):c.1539T>C (p.Pro513=)
|
rs368315047
|
0.00006
|
|
NM_181712.5(KANK4):c.2095del (p.Cys699fs)
|
rs775562315
|
0.00006
|
|
NM_182760.4(SUMF1):c.237C>G (p.Pro79=)
|
rs11555132
|
0.00006
|
|
NM_182760.4(SUMF1):c.271-7A>G
|
rs371283922
|
0.00006
|
|
NM_182914.3(SYNE2):c.303A>G (p.Leu101=)
|
rs371277498
|
0.00006
|
|
NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu)
|
rs80046702
|
0.00006
|
|
NM_194248.3(OTOF):c.2253G>A (p.Thr751=)
|
rs201888333
|
0.00006
|
|
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys)
|
rs574277214
|
0.00006
|
|
NM_194277.3(FRMD7):c.899G>A (p.Arg300His)
|
rs773529900
|
0.00006
|
|
NM_198525.3(KIF7):c.1296G>A (p.Leu432=)
|
rs886051533
|
0.00006
|
|
NM_198525.3(KIF7):c.2322C>A (p.Leu774=)
|
rs145339415
|
0.00006
|
|
NM_198525.3(KIF7):c.588G>T (p.Leu196=)
|
rs191721354
|
0.00006
|
|
NM_198525.3(KIF7):c.924-14C>T
|
rs573998309
|
0.00006
|
|
NM_198904.4(GABRG2):c.1254C>T (p.Asp418=)
|
rs113085352
|
0.00006
|
|
NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys)
|
rs61750979
|
0.00006
|
|
NM_198994.3(TGM6):c.1968C>T (p.Asp656=)
|
rs141258102
|
0.00006
|
|
NM_199242.3(UNC13D):c.1014C>T (p.His338=)
|
rs375097777
|
0.00006
|
|
NM_201525.4(ADGRG1):c.1744A>T (p.Met582Leu)
|
rs775708467
|
0.00006
|
|
NM_201525.4(ADGRG1):c.27G>A (p.Thr9=)
|
rs142223451
|
0.00006
|
|
NM_206933.4(USH2A):c.1143+12C>T
|
rs727505167
|
0.00006
|
|
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg)
|
rs148674752
|
0.00006
|
|
NM_206933.4(USH2A):c.2365G>A (p.Val789Ile)
|
rs199571930
|
0.00006
|
|
NM_206933.4(USH2A):c.4030A>G (p.Met1344Val)
|
rs727503732
|
0.00006
|
|
NM_206933.4(USH2A):c.8846-7T>C
|
rs769662049
|
0.00006
|
|
NM_206937.2(LIG4):c.1830C>T (p.Leu610=)
|
rs768563098
|
0.00006
|
|
NM_206937.2(LIG4):c.500T>G (p.Ile167Arg)
|
rs138021217
|
0.00006
|
|
NM_207361.6(FREM2):c.1647C>A (p.Phe549Leu)
|
rs114341997
|
0.00006
|
|
NM_207391.3(RGS9BP):c.96C>G (p.Asp32Glu)
|
rs201148742
|
0.00006
|
|
NM_212482.4(FN1):c.3289G>A (p.Glu1097Lys)
|
rs753807100
|
0.00006
|
|
NM_000018.4(ACADVL):c.1077+16G>A
|
rs780420241
|
0.00005
|
|
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)
|
rs201185479
|
0.00005
|
|
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)
|
rs143796828
|
0.00005
|
|
NM_000048.4(ASL):c.75C>T (p.Asn25=)
|
rs370260834
|
0.00005
|
|
NM_000049.4(ASPA):c.840C>T (p.Pro280=)
|
rs148081446
|
0.00005
|
|
NM_000051.4(ATM):c.4109+6T>C
|
rs368606937
|
0.00005
|
|
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00005
|
|
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met)
|
rs782076879
|
0.00005
|
|
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile)
|
rs782682493
|
0.00005
|
|
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)
|
rs398123136
|
0.00005
|
|
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=)
|
rs368902724
|
0.00005
|
|
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser)
|
rs398122714
|
0.00005
|
|
NM_000059.4(BRCA2):c.9087G>A (p.Ala3029=)
|
rs368576266
|
0.00005
|
|
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln)
|
rs763360081
|
0.00005
|
|
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu)
|
rs35521793
|
0.00005
|
|
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser)
|
rs139935847
|
0.00005
|
|
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu)
|
rs371849585
|
0.00005
|
|
NM_000070.3(CAPN3):c.945+14C>T
|
rs763112832
|
0.00005
|
|
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=)
|
rs745743884
|
0.00005
|
|
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr)
|
rs745815071
|
0.00005
|
|
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu)
|
rs533602128
|
0.00005
|
|
NM_000092.5(COL4A4):c.2589C>T (p.Pro863=)
|
rs772517977
|
0.00005
|
|
NM_000092.5(COL4A4):c.4390G>A (p.Gly1464Ser)
|
rs372558522
|
0.00005
|
|
NM_000092.5(COL4A4):c.4578C>T (p.Asn1526=)
|
rs202109186
|
0.00005
|
|
NM_000094.4(COL7A1):c.1428G>A (p.Pro476=)
|
rs138330564
|
0.00005
|
|
NM_000094.4(COL7A1):c.3837G>A (p.Arg1279=)
|
rs146903823
|
0.00005
|
|
NM_000094.4(COL7A1):c.4012-9C>T
|
rs763087515
|
0.00005
|
|
NM_000096.4(CP):c.1131C>T (p.Ala377=)
|
rs150733154
|
0.00005
|
|
NM_000098.3(CPT2):c.1335C>T (p.Cys445=)
|
rs143075786
|
0.00005
|
|
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu)
|
rs375181157
|
0.00005
|
|
NM_000130.5(F5):c.1033C>T (p.Arg345Trp)
|
rs746260106
|
0.00005
|
|
NM_000130.5(F5):c.1300G>A (p.Val434Met)
|
rs574610215
|
0.00005
|
|
NM_000130.5(F5):c.165T>C (p.Asn55=)
|
rs781434840
|
0.00005
|
|
NM_000130.5(F5):c.3801T>C (p.Leu1267=)
|
rs559683767
|
0.00005
|
|
NM_000135.4(FANCA):c.2015-5C>T
|
rs780349960
|
0.00005
|
|
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)
|
rs201589909
|
0.00005
|
|
NM_000135.4(FANCA):c.2152-13T>C
|
rs752105563
|
0.00005
|
|
NM_000135.4(FANCA):c.2212C>T (p.Pro738Ser)
|
rs751015814
|
0.00005
|
|
NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile)
|
rs376302719
|
0.00005
|
|
NM_000135.4(FANCA):c.2778+10C>T
|
rs371786839
|
0.00005
|
|
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)
|
rs144171225
|
0.00005
|
|
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe)
|
rs35566151
|
0.00005
|
|
NM_000135.4(FANCA):c.953G>T (p.Arg318Met)
|
rs72552377
|
0.00005
|
|
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)
|
rs193922245
|
0.00005
|
|
NM_000141.5(FGFR2):c.780C>T (p.Ala260=)
|
rs778288494
|
0.00005
|
|
NM_000147.5(FUCA1):c.936G>A (p.Leu312=)
|
rs140932886
|
0.00005
|
|
NM_000152.5(GAA):c.2418G>A (p.Thr806=)
|
rs371528938
|
0.00005
|
|
NM_000152.5(GAA):c.2481+15C>T
|
rs771155956
|
0.00005
|
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
|
NM_000153.4(GALC):c.195+15G>A
|
rs748140458
|
0.00005
|
|
NM_000154.2(GALK1):c.1152C>T (p.Ala384=)
|
rs373041566
|
0.00005
|
|
NM_000154.2(GALK1):c.935G>A (p.Arg312His)
|
rs181526665
|
0.00005
|
|
NM_000158.4(GBE1):c.1392C>T (p.Leu464=)
|
rs563241317
|
0.00005
|
|
NM_000159.4(GCDH):c.1092C>T (p.Pro364=)
|
rs146363703
|
0.00005
|
|
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)
|
rs141875337
|
0.00005
|
|
NM_000170.3(GLDC):c.576C>G (p.Ala192=)
|
rs768514155
|
0.00005
|
|
NM_000181.4(GUSB):c.211-8C>G
|
rs2293340
|
0.00005
|
|
NM_000191.3(HMGCL):c.720A>G (p.Gln240=)
|
rs911190800
|
0.00005
|
|
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val)
|
rs569192835
|
0.00005
|
|
NM_000203.5(IDUA):c.1728-9C>T
|
rs374775605
|
0.00005
|
|
NM_000211.5(ITGB2):c.1320G>C (p.Gln440His)
|
rs138703739
|
0.00005
|
|
NM_000211.5(ITGB2):c.897+14C>A
|
rs374471192
|
0.00005
|
|
NM_000215.4(JAK3):c.2062A>T (p.Ile688Phe)
|
rs35785705
|
0.00005
|
|
NM_000231.3(SGCG):c.414A>G (p.Gln138=)
|
rs770596449
|
0.00005
|
|
NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser)
|
rs778879572
|
0.00005
|
|
NM_000243.3(MEFV):c.2337G>C (p.Gly779=)
|
rs104895153
|
0.00005
|
|
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln)
|
rs201178011
|
0.00005
|
|
NM_000260.4(MYO7A):c.3670G>A (p.Ala1224Thr)
|
rs748928605
|
0.00005
|
|
NM_000260.4(MYO7A):c.4804C>T (p.Arg1602Trp)
|
rs373048784
|
0.00005
|
|
NM_000260.4(MYO7A):c.5033G>A (p.Arg1678Gln)
|
rs371115266
|
0.00005
|
|
NM_000260.4(MYO7A):c.5169-6C>T
|
rs768594224
|
0.00005
|
|
NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp)
|
rs782505601
|
0.00005
|
|
NM_000271.5(NPC1):c.1430C>T (p.Thr477Met)
|
rs761459069
|
0.00005
|
|
NM_000271.5(NPC1):c.956-10G>A
|
rs755660832
|
0.00005
|
|
NM_000282.4(PCCA):c.945G>A (p.Ala315=)
|
rs373115130
|
0.00005
|
|
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met)
|
rs145124626
|
0.00005
|
|
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
|
rs745607005
|
0.00005
|
|
NM_000291.4(PGK1):c.1188T>A (p.Gly396=)
|
rs782667719
|
0.00005
|
|
NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly)
|
rs929302665
|
0.00005
|
|
NM_000293.3(PHKB):c.1972-7G>A
|
rs765332910
|
0.00005
|
|
NM_000303.3(PMM2):c.738C>G (p.Ser246=)
|
rs373888957
|
0.00005
|
|
NM_000322.5(PRPH2):c.888C>T (p.Pro296=)
|
rs183714869
|
0.00005
|
|
NM_000335.5(SCN5A):c.3664-7T>A
|
rs373156650
|
0.00005
|
|
NM_000335.5(SCN5A):c.4811-5C>T
|
rs765962519
|
0.00005
|
|
NM_000341.4(SLC3A1):c.1137-3T>C
|
rs555017366
|
0.00005
|
|
NM_000343.4(SLC5A1):c.549C>T (p.Leu183=)
|
rs376255565
|
0.00005
|
|
NM_000343.4(SLC5A1):c.624G>A (p.Thr208=)
|
rs144581584
|
0.00005
|
|
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)
|
rs201117452
|
0.00005
|
|
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)
|
rs142732109
|
0.00005
|
|
NM_000350.3(ABCA4):c.4848+13T>C
|
rs374196141
|
0.00005
|
|
NM_000352.6(ABCC8):c.4482C>T (p.Ala1494=)
|
rs374853931
|
0.00005
|
|
NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln)
|
rs200514807
|
0.00005
|
|
NM_000381.4(MID1):c.342C>T (p.Ala114=)
|
rs765698306
|
0.00005
|
|
NM_000383.4(AIRE):c.156G>A (p.Lys52=)
|
rs144396624
|
0.00005
|
|
NM_000384.3(APOB):c.11018A>G (p.Lys3673Arg)
|
rs374411400
|
0.00005
|
|
NM_000384.3(APOB):c.12581T>C (p.Ile4194Thr)
|
rs570782024
|
0.00005
|
|
NM_000384.3(APOB):c.2657A>G (p.Asn886Ser)
|
rs183398286
|
0.00005
|
|
NM_000384.3(APOB):c.6125T>C (p.Met2042Thr)
|
rs371224295
|
0.00005
|
|
NM_000384.3(APOB):c.7057C>A (p.Gln2353Lys)
|
rs758067709
|
0.00005
|
|
NM_000384.3(APOB):c.7336G>A (p.Val2446Met)
|
rs777259835
|
0.00005
|
|
NM_000384.3(APOB):c.7655A>G (p.Asp2552Gly)
|
rs779100523
|
0.00005
|
|
NM_000384.3(APOB):c.8297C>T (p.Ser2766Phe)
|
rs1225631813
|
0.00005
|
|
NM_000384.3(APOB):c.9448T>C (p.Phe3150Leu)
|
rs185224477
|
0.00005
|
|
NM_000391.4(TPP1):c.6A>T (p.Gly2=)
|
rs747594496
|
0.00005
|
|
NM_000392.5(ABCC2):c.232C>T (p.Leu78=)
|
rs764390911
|
0.00005
|
|
NM_000392.5(ABCC2):c.2826C>T (p.Asp942=)
|
rs148081784
|
0.00005
|
|
NM_000397.4(CYBB):c.948G>T (p.Gly316=)
|
rs139761069
|
0.00005
|
|
NM_000400.4(ERCC2):c.1237+20T>A
|
rs758988777
|
0.00005
|
|
NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg)
|
rs372956200
|
0.00005
|
|
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=)
|
rs200881673
|
0.00005
|
|
NM_000443.4(ABCB4):c.438C>T (p.Ile146=)
|
rs776179529
|
0.00005
|
|
NM_000454.5(SOD1):c.420C>T (p.Asn140=)
|
rs1804449
|
0.00005
|
|
NM_000455.5(STK11):c.1286C>G (p.Ala429Gly)
|
rs757369900
|
0.00005
|
|
NM_000455.5(STK11):c.375-7G>A
|
rs587781176
|
0.00005
|
|
NM_000455.5(STK11):c.465-5C>T
|
rs567202367
|
0.00005
|
|
NM_000455.5(STK11):c.920+6C>T
|
rs730881964
|
0.00005
|
|
NM_000458.4(HNF1B):c.1239C>T (p.Val413=)
|
rs201113814
|
0.00005
|
|
NM_000458.4(HNF1B):c.1654-4G>A
|
rs193922485
|
0.00005
|
|
NM_000463.3(UGT1A1):c.477C>T (p.Ile159=)
|
rs199766420
|
0.00005
|
|
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala)
|
rs587780017
|
0.00005
|
|
NM_000466.3(PEX1):c.147G>A (p.Val49=)
|
rs202230667
|
0.00005
|
|
NM_000484.4(APP):c.885C>T (p.Ala295=)
|
rs199890425
|
0.00005
|
|
NM_000489.6(ATRX):c.1169G>A (p.Arg390His)
|
rs367986587
|
0.00005
|
|
NM_000489.6(ATRX):c.1478A>G (p.His493Arg)
|
rs947189709
|
0.00005
|
|
NM_000489.6(ATRX):c.1645A>G (p.Ser549Gly)
|
rs148513102
|
0.00005
|
|
NM_000489.6(ATRX):c.2133T>G (p.Pro711=)
|
rs782781621
|
0.00005
|
|
NM_000492.4(CFTR):c.3874-4A>G
|
rs201381687
|
0.00005
|
|
NM_000506.5(F2):c.978G>A (p.Pro326=)
|
rs142949009
|
0.00005
|
|
NM_000518.5(HBB):c.316-30A>C
|
rs193922558
|
0.00005
|
|
NM_000521.4(HEXB):c.1035A>C (p.Pro345=)
|
rs202227927
|
0.00005
|
|
NM_000521.4(HEXB):c.1572C>T (p.Asp524=)
|
rs770560389
|
0.00005
|
|
NM_000527.5(LDLR):c.861C>T (p.Gly287=)
|
rs770191650
|
0.00005
|
|
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln)
|
rs543222535
|
0.00005
|
|
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679
|
0.00005
|
|
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile)
|
rs145135400
|
0.00005
|
|
NM_000540.3(RYR1):c.10359C>T (p.Arg3453=)
|
rs376830015
|
0.00005
|
|
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=)
|
rs201157293
|
0.00005
|
|
NM_000540.3(RYR1):c.1956G>A (p.Ala652=)
|
rs202105428
|
0.00005
|
|
NM_000540.3(RYR1):c.2199G>C (p.Gly733=)
|
rs749285937
|
0.00005
|
|
NM_000540.3(RYR1):c.2835G>A (p.Ala945=)
|
rs576990255
|
0.00005
|
|
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser)
|
rs551509462
|
0.00005
|
|
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)
|
rs200289457
|
0.00005
|
|
NM_000540.3(RYR1):c.4346C>T (p.Ala1449Val)
|
rs775455157
|
0.00005
|
|
NM_000540.3(RYR1):c.6651C>T (p.Gly2217=)
|
rs371006370
|
0.00005
|
|
NM_000540.3(RYR1):c.7800T>C (p.Arg2600=)
|
rs762682222
|
0.00005
|
|
NM_000540.3(RYR1):c.9348G>A (p.Ser3116=)
|
rs763655831
|
0.00005
|
|
NM_000540.3(RYR1):c.9456C>T (p.Phe3152=)
|
rs369206584
|
0.00005
|
|
NM_000540.3(RYR1):c.9555-4C>T
|
rs1417337927
|
0.00005
|
|
NM_000546.6(TP53):c.782+12C>T
|
rs17881780
|
0.00005
|
|
NM_000548.5(TSC2):c.2220+4C>G
|
rs781186613
|
0.00005
|
|
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr)
|
rs759837836
|
0.00005
|
|
NM_000553.6(WRN):c.2735T>G (p.Ile912Ser)
|
rs11574323
|
0.00005
|
|
NM_000642.3(AGL):c.1065G>A (p.Thr355=)
|
rs764914308
|
0.00005
|
|
NM_000642.3(AGL):c.261A>G (p.Gln87=)
|
rs370304606
|
0.00005
|
|
NM_000709.4(BCKDHA):c.174G>A (p.Ser58=)
|
rs576803251
|
0.00005
|
|
NM_000787.4(DBH):c.1722+13G>T
|
rs200197329
|
0.00005
|
|
NM_000823.4(GHRHR):c.885G>T (p.Val295=)
|
rs146944568
|
0.00005
|
|
NM_001005242.3(PKP2):c.1379-2000T>A
|
rs769899368
|
0.00005
|
|
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met)
|
rs201580443
|
0.00005
|
|
NM_001031710.3(KLHL7):c.1533C>T (p.Val511=)
|
rs886043663
|
0.00005
|
|
NM_001033855.3(DCLRE1C):c.456C>T (p.Ser152=)
|
rs140176235
|
0.00005
|
|
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=)
|
rs201218861
|
0.00005
|
|
NM_001037333.3(CYFIP2):c.2281A>G (p.Ile761Val)
|
rs549089526
|
0.00005
|
|
NM_001040436.3(YARS2):c.477C>T (p.Phe159=)
|
rs774325742
|
0.00005
|
|
NM_001040716.2(PC):c.1233C>T (p.Ser411=)
|
rs747247743
|
0.00005
|
|
NM_001040716.2(PC):c.1368+11G>A
|
rs371731636
|
0.00005
|
|
NM_001040716.2(PC):c.1514-6C>T
|
rs745563711
|
0.00005
|
|
NM_001040716.2(PC):c.751+13G>A
|
rs374607634
|
0.00005
|
|
NM_001042432.2(CLN3):c.1158C>T (p.Gly386=)
|
rs145340637
|
0.00005
|
|
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)
|
rs149739570
|
0.00005
|
|
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile)
|
rs145191978
|
0.00005
|
|
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)
|
rs370789267
|
0.00005
|
|
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)
|
rs138227618
|
0.00005
|
|
NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser)
|
rs104895288
|
0.00005
|
|
NM_001083116.3(PRF1):c.591C>T (p.Leu197=)
|
rs767273601
|
0.00005
|
|
NM_001083961.2(WDR62):c.1509C>T (p.Asp503=)
|
rs758922011
|
0.00005
|
|
NM_001083961.2(WDR62):c.3558C>T (p.Ser1186=)
|
rs111889921
|
0.00005
|
|
NM_001098671.2(RASGRP2):c.1788G>A (p.Glu596=)
|
rs372060305
|
0.00005
|
|
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro)
|
rs767384093
|
0.00005
|
|
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)
|
rs764262721
|
0.00005
|
|
NM_001126121.2(SLC25A19):c.93G>A (p.Ala31=)
|
rs143765189
|
0.00005
|
|
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met)
|
rs182450244
|
0.00005
|
|
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=)
|
rs398123778
|
0.00005
|
|
NM_001130987.2(DYSF):c.405G>A (p.Pro135=)
|
rs973059586
|
0.00005
|
|
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=)
|
rs773240314
|
0.00005
|
|
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser)
|
rs372567331
|
0.00005
|
|
NM_001134363.3(RBM20):c.1899G>A (p.Pro633=)
|
rs1446760969
|
0.00005
|
|
NM_001134407.3(GRIN2A):c.2811T>A (p.Asp937Glu)
|
rs570907044
|
0.00005
|
|
NM_001134407.3(GRIN2A):c.3505C>T (p.Arg1169Trp)
|
rs369878342
|
0.00005
|
|
NM_001134407.3(GRIN2A):c.567C>A (p.Thr189=)
|
rs758864728
|
0.00005
|
|
NM_001136472.2(LITAF):c.477G>A (p.Lys159=)
|
rs371453151
|
0.00005
|
|
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln)
|
rs749038401
|
0.00005
|
|
NM_001142800.2(EYS):c.904C>T (p.Leu302Phe)
|
rs202064483
|
0.00005
|
|
NM_001146079.2(CLDN14):c.273G>A (p.Ser91=)
|
rs577393948
|
0.00005
|
|
NM_001164508.2(NEB):c.10589A>T (p.Gln3530Leu)
|
rs573693040
|
0.00005
|
|
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=)
|
rs199789085
|
0.00005
|
|
NM_001164508.2(NEB):c.1675-4C>G
|
rs369915027
|
0.00005
|
|
NM_001164508.2(NEB):c.17024G>A (p.Arg5675His)
|
rs373850451
|
0.00005
|
|
NM_001164508.2(NEB):c.17900C>T (p.Thr5967Met)
|
rs778982089
|
0.00005
|
|
NM_001164508.2(NEB):c.19315-4A>G
|
rs778306769
|
0.00005
|
|
NM_001164508.2(NEB):c.19899C>T (p.Thr6633=)
|
rs370742146
|
0.00005
|
|
NM_001164508.2(NEB):c.21268C>G (p.Pro7090Ala)
|
rs371704528
|
0.00005
|
|
NM_001164508.2(NEB):c.22131C>G (p.His7377Gln)
|
rs777069125
|
0.00005
|
|
NM_001164508.2(NEB):c.2249C>T (p.Thr750Met)
|
rs757505325
|
0.00005
|
|
NM_001164508.2(NEB):c.23555C>T (p.Ser7852Leu)
|
rs200454939
|
0.00005
|
|
NM_001164508.2(NEB):c.24044G>A (p.Gly8015Glu)
|
rs772083580
|
0.00005
|
|
NM_001164508.2(NEB):c.252C>T (p.Pro84=)
|
rs201735545
|
0.00005
|
|
NM_001164508.2(NEB):c.2739C>T (p.Ser913=)
|
rs185674525
|
0.00005
|
|
NM_001164508.2(NEB):c.3716G>T (p.Ser1239Ile)
|
rs201541240
|
0.00005
|
|
NM_001164508.2(NEB):c.6614G>A (p.Arg2205His)
|
rs752349680
|
0.00005
|
|
NM_001164508.2(NEB):c.7185C>T (p.Asn2395=)
|
rs775336786
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.3375C>T (p.Gly1125=)
|
rs375987938
|
0.00005
|
|
NM_001177316.2(SLC34A3):c.987C>T (p.Ala329=)
|
rs372523225
|
0.00005
|
|
NM_001182.5(ALDH7A1):c.913+8T>C
|
rs766528289
|
0.00005
|
|
NM_001184.4(ATR):c.3151C>T (p.Arg1051Cys)
|
rs367641692
|
0.00005
|
|
NM_001205293.3(CACNA1E):c.3491C>T (p.Ala1164Val)
|
rs377232916
|
0.00005
|
|
NM_001256545.2(MEGF10):c.1080C>T (p.Tyr360=)
|
rs751813170
|
0.00005
|
|
NM_001256545.2(MEGF10):c.3180A>G (p.Pro1060=)
|
rs144450528
|
0.00005
|
|
NM_001277115.2(DNAH11):c.126G>A (p.Glu42=)
|
rs748250611
|
0.00005
|
|
NM_001277115.2(DNAH11):c.4964A>G (p.Lys1655Arg)
|
rs371049362
|
0.00005
|
|
NM_001277115.2(DNAH11):c.6607T>C (p.Leu2203=)
|
rs202012891
|
0.00005
|
|
NM_001277115.2(DNAH11):c.7800T>C (p.Asp2600=)
|
rs774129338
|
0.00005
|
|
NM_001278116.2(L1CAM):c.2872+9G>A
|
rs398123363
|
0.00005
|
|
NM_001288705.3(CSF1R):c.1885G>T (p.Ala629Ser)
|
rs17854478
|
0.00005
|
|
NM_001292063.2(OTOG):c.5626C>T (p.Leu1876=)
|
rs748088599
|
0.00005
|
|
NM_001347721.2(DYRK1A):c.300+3A>G
|
rs1241074832
|
0.00005
|
|
NM_001349338.3(FOXP1):c.107G>A (p.Arg36Gln)
|
rs200643313
|
0.00005
|
|
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=)
|
rs759178651
|
0.00005
|
|
NM_001358530.2(MOCS1):c.162G>A (p.Ala54=)
|
rs200316862
|
0.00005
|
|
NM_001365999.1(SZT2):c.2887A>G (p.Lys963Glu)
|
rs753130543
|
0.00005
|
|
NM_001365999.1(SZT2):c.4503G>A (p.Val1501=)
|
rs367690658
|
0.00005
|
|
NM_001367721.1(CASK):c.1090A>G (p.Ser364Gly)
|
rs759161435
|
0.00005
|
|
NM_001369.3(DNAH5):c.10472C>T (p.Thr3491Met)
|
rs760010021
|
0.00005
|
|
NM_001369.3(DNAH5):c.12473G>A (p.Arg4158Gln)
|
rs376927687
|
0.00005
|
|
NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp)
|
rs753960777
|
0.00005
|
|
NM_001369.3(DNAH5):c.13672A>G (p.Lys4558Glu)
|
rs752010216
|
0.00005
|
|
NM_001369.3(DNAH5):c.3302T>C (p.Val1101Ala)
|
rs376453450
|
0.00005
|
|
NM_001369.3(DNAH5):c.3517A>C (p.Ile1173Leu)
|
rs375686889
|
0.00005
|
|
NM_001369.3(DNAH5):c.3655C>T (p.Arg1219Cys)
|
rs745321705
|
0.00005
|
|
NM_001369.3(DNAH5):c.4338C>G (p.Leu1446=)
|
rs377432140
|
0.00005
|
|
NM_001369.3(DNAH5):c.6053T>C (p.Ile2018Thr)
|
rs117989731
|
0.00005
|
|
NM_001369.3(DNAH5):c.8018A>G (p.Asn2673Ser)
|
rs200591493
|
0.00005
|
|
NM_001369369.1(FOXN1):c.159C>T (p.Ser53=)
|
rs368024968
|
0.00005
|
|
NM_001370658.1(BTD):c.48C>T (p.Tyr16=)
|
rs201823743
|
0.00005
|
|
NM_001371904.1(APOA5):c.875C>T (p.Thr292Ile)
|
rs34832733
|
0.00005
|
|
NM_001372051.1(CASP8):c.1308C>T (p.Gly436=)
|
rs777463099
|
0.00005
|
|
NM_001374385.1(ATP8B1):c.1620T>C (p.Asp540=)
|
rs201514636
|
0.00005
|
|
NM_001374385.1(ATP8B1):c.2521A>C (p.Arg841=)
|
rs149156534
|
0.00005
|
|
NM_001374385.1(ATP8B1):c.276T>C (p.Tyr92=)
|
rs749127600
|
0.00005
|
|
NM_001374385.1(ATP8B1):c.297A>T (p.Thr99=)
|
rs575921074
|
0.00005
|
|
NM_001374736.1(DST):c.2860-4G>C
|
rs370134977
|
0.00005
|
|
NM_001374828.1(ARID1B):c.407C>T (p.Ser136Leu)
|
rs1484818039
|
0.00005
|
|
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)
|
rs200375220
|
0.00005
|
|
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=)
|
rs144921184
|
0.00005
|
|
NM_001378414.1(HDAC4):c.1434C>T (p.Asn478=)
|
rs754530774
|
0.00005
|
|
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)
|
rs767787371
|
0.00005
|
|
NM_001378452.1(ITPR1):c.5441A>G (p.Asn1814Ser)
|
rs200927261
|
0.00005
|
|
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=)
|
rs370228166
|
0.00005
|
|
NM_001378778.1(MPDZ):c.1197A>G (p.Lys399=)
|
rs767284244
|
0.00005
|
|
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=)
|
rs539688337
|
0.00005
|
|
NM_001395413.1(POR):c.888C>T (p.Thr296=)
|
rs180683888
|
0.00005
|
|
NM_001395413.1(POR):c.990C>T (p.Leu330=)
|
rs376830846
|
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_001457.4(FLNB):c.3655C>T (p.Arg1219Trp)
|
rs763607287
|
0.00005
|
|
NM_001701.4(BAAT):c.762G>A (p.Thr254=)
|
rs760488689
|
0.00005
|
|
NM_001701.4(BAAT):c.797T>C (p.Ile266Thr)
|
rs539433580
|
0.00005
|
|
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met)
|
rs138498898
|
0.00005
|
|
NM_001844.5(COL2A1):c.4149G>A (p.Thr1383=)
|
rs750227063
|
0.00005
|
|
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys)
|
rs148838496
|
0.00005
|
|
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu)
|
rs376442872
|
0.00005
|
|
NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser)
|
rs761077330
|
0.00005
|
|
NM_001848.3(COL6A1):c.994G>A (p.Gly332Ser)
|
rs11701912
|
0.00005
|
|
NM_001851.6(COL9A1):c.1202C>A (p.Thr401Lys)
|
rs376664058
|
0.00005
|
|
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=)
|
rs146064786
|
0.00005
|
|
NM_001876.4(CPT1A):c.434G>A (p.Arg145His)
|
rs373015421
|
0.00005
|
|
NM_001918.5(DBT):c.291C>T (p.Ser97=)
|
rs201318480
|
0.00005
|
|
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu)
|
rs146402368
|
0.00005
|
|
NM_001966.4(EHHADH):c.855C>T (p.Ser285=)
|
rs752275123
|
0.00005
|
|
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys)
|
rs778519094
|
0.00005
|
|
NM_002055.5(GFAP):c.1003G>A (p.Gly335Arg)
|
rs149353780
|
0.00005
|
|
NM_002206.3(ITGA7):c.3263G>A (p.Arg1088Gln)
|
rs754655315
|
0.00005
|
|
NM_002292.4(LAMB2):c.3324C>T (p.Asn1108=)
|
rs757491995
|
0.00005
|
|
NM_002292.4(LAMB2):c.386-15C>T
|
rs117575041
|
0.00005
|
|
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val)
|
rs3180515
|
0.00005
|
|
NM_002335.4(LRP5):c.3697G>A (p.Asp1233Asn)
|
rs146388120
|
0.00005
|
|
NM_002435.3(MPI):c.132G>A (p.Lys44=)
|
rs778577329
|
0.00005
|
|
NM_002474.3(MYH11):c.4345A>C (p.Lys1449Gln)
|
rs775809843
|
0.00005
|
|
NM_002474.3(MYH11):c.708C>T (p.Asn236=)
|
rs768328532
|
0.00005
|
|
NM_002529.4(NTRK1):c.1939G>T (p.Val647Leu)
|
rs142870382
|
0.00005
|
|
NM_002529.4(NTRK1):c.357C>T (p.Arg119=)
|
rs149960336
|
0.00005
|
|
NM_002529.4(NTRK1):c.375C>T (p.Asn125=)
|
rs757803799
|
0.00005
|
|
NM_002547.3(OPHN1):c.1722G>A (p.Pro574=)
|
rs752918613
|
0.00005
|
|
NM_002547.3(OPHN1):c.702+8T>C
|
rs369382527
|
0.00005
|
|
NM_002615.7(SERPINF1):c.427G>A (p.Val143Ile)
|
rs548418598
|
0.00005
|
|
NM_002617.4(PEX10):c.711C>T (p.Tyr237=)
|
rs761005209
|
0.00005
|
|
NM_002637.4(PHKA1):c.3570C>T (p.Asp1190=)
|
rs1033726905
|
0.00005
|
|
NM_002863.5(PYGL):c.1884A>G (p.Ala628=)
|
rs374560108
|
0.00005
|
|
NM_002906.4(RDX):c.1282A>G (p.Ile428Val)
|
rs572843421
|
0.00005
|
|
NM_003047.5(SLC9A1):c.1695C>T (p.Gly565=)
|
rs144261466
|
0.00005
|
|
NM_003151.4(STAT4):c.921G>C (p.Leu307Phe)
|
rs548245892
|
0.00005
|
|
NM_003172.4(SURF1):c.507C>T (p.Thr169=)
|
rs782614599
|
0.00005
|
|
NM_003265.3(TLR3):c.1585C>T (p.Leu529Phe)
|
rs201222071
|
0.00005
|
|
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=)
|
rs376978572
|
0.00005
|
|
NM_003722.5(TP63):c.992+9C>T
|
rs369838833
|
0.00005
|
|
NM_003737.4(DCHS1):c.5853C>T (p.Arg1951=)
|
rs370161556
|
0.00005
|
|
NM_003835.4(RGS9):c.69C>T (p.Leu23=)
|
rs373346845
|
0.00005
|
|
NM_003839.4(TNFRSF11A):c.1416C>T (p.Cys472=)
|
rs771249524
|
0.00005
|
|
NM_003859.3(DPM1):c.456A>G (p.Gly152=)
|
rs370598866
|
0.00005
|
|
NM_003863.4(DPM2):c.197-5C>T
|
rs886063482
|
0.00005
|
|
NM_003978.5(PSTPIP1):c.411C>A (p.Ala137=)
|
rs368114895
|
0.00005
|
|
NM_004035.7(ACOX1):c.405T>C (p.Thr135=)
|
rs142474717
|
0.00005
|
|
NM_004035.7(ACOX1):c.912C>T (p.Ser304=)
|
rs144826451
|
0.00005
|
|
NM_004100.5(EYA4):c.1107+13A>C
|
rs775989680
|
0.00005
|
|
NM_004281.4(BAG3):c.133C>T (p.Arg45Cys)
|
rs747820097
|
0.00005
|
|
NM_004281.4(BAG3):c.872C>T (p.Ser291Leu)
|
rs368866313
|
0.00005
|
|
NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln)
|
rs199987354
|
0.00005
|
|
NM_004360.5(CDH1):c.1019C>T (p.Thr340Met)
|
rs61747631
|
0.00005
|
|
NM_004360.5(CDH1):c.1988A>G (p.Tyr663Cys)
|
rs372182377
|
0.00005
|
|
NM_004360.5(CDH1):c.699C>T (p.His233=)
|
rs115494727
|
0.00005
|
|
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)
|
rs201996851
|
0.00005
|
|
NM_004370.6(COL12A1):c.5959C>T (p.Arg1987Cys)
|
rs200870100
|
0.00005
|
|
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile)
|
rs749820299
|
0.00005
|
|
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln)
|
rs367759510
|
0.00005
|
|
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu)
|
rs374262024
|
0.00005
|
|
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu)
|
rs201826850
|
0.00005
|
|
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu)
|
rs764232504
|
0.00005
|
|
NM_004560.4(ROR2):c.2444C>T (p.Pro815Leu)
|
rs770921333
|
0.00005
|
|
NM_004560.4(ROR2):c.822C>T (p.Asn274=)
|
rs140557090
|
0.00005
|
|
NM_004606.5(TAF1):c.3227+8G>A
|
rs373273976
|
0.00005
|
|
NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile)
|
rs574878636
|
0.00005
|
|
NM_004793.4(LONP1):c.613C>T (p.Arg205Cys)
|
rs758142635
|
0.00005
|
|
NM_004817.4(TJP2):c.911G>A (p.Gly304Glu)
|
rs200222645
|
0.00005
|
|
NM_004820.5(CYP7B1):c.1036T>C (p.Leu346=)
|
rs535728519
|
0.00005
|
|
NM_004820.5(CYP7B1):c.171A>T (p.Gly57=)
|
rs372135575
|
0.00005
|
|
NM_004836.7(EIF2AK3):c.744C>T (p.Val248=)
|
rs147298435
|
0.00005
|
|
NM_005026.5(PIK3CD):c.1955+15C>T
|
rs186998116
|
0.00005
|
|
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr)
|
rs757915171
|
0.00005
|
|
NM_005120.3(MED12):c.4864-6C>T
|
rs1018026145
|
0.00005
|
|
NM_005327.7(HADH):c.132+7G>T
|
rs534966818
|
0.00005
|
|
NM_005422.4(TECTA):c.2088C>T (p.Cys696=)
|
rs368288093
|
0.00005
|
|
NM_005502.4(ABCA1):c.5757+12C>T
|
rs769533549
|
0.00005
|
|
NM_005546.4(ITK):c.496-4C>G
|
rs749411240
|
0.00005
|
|
NM_005609.4(PYGM):c.1239+9G>A
|
rs374937711
|
0.00005
|
|
NM_005732.4(RAD50):c.3496C>T (p.Arg1166Trp)
|
rs587782577
|
0.00005
|
|
NM_005902.4(SMAD3):c.401-7C>T
|
rs774268232
|
0.00005
|
|
NM_005902.4(SMAD3):c.607+9T>A
|
rs886051380
|
0.00005
|
|
NM_006005.3(WFS1):c.498C>G (p.Leu166=)
|
rs758731318
|
0.00005
|
|
NM_006015.6(ARID1A):c.1329C>T (p.Gly443=)
|
rs369923774
|
0.00005
|
|
NM_006031.6(PCNT):c.7180-7G>A
|
rs201549624
|
0.00005
|
|
NM_006231.4(POLE):c.2818A>G (p.Met940Val)
|
rs148382941
|
0.00005
|
|
NM_006231.4(POLE):c.4862T>G (p.Val1621Gly)
|
rs534387116
|
0.00005
|
|
NM_006231.4(POLE):c.5253C>T (p.Ala1751=)
|
rs765888059
|
0.00005
|
|
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg)
|
rs367970442
|
0.00005
|
|
NM_006420.3(ARFGEF2):c.48G>A (p.Glu16=)
|
rs760130632
|
0.00005
|
|
NM_006506.5(RASA2):c.807A>T (p.Leu269=)
|
rs757160095
|
0.00005
|
|
NM_006516.4(SLC2A1):c.276-8G>A
|
rs373084446
|
0.00005
|
|
NM_006623.4(PHGDH):c.372G>A (p.Ala124=)
|
rs146740411
|
0.00005
|
|
NM_006734.4(HIVEP2):c.5621-7G>T
|
rs749037306
|
0.00005
|
|
NM_006734.4(HIVEP2):c.5846A>G (p.Asn1949Ser)
|
rs376423805
|
0.00005
|
|
NM_006767.4(LZTR1):c.1785+19G>A
|
rs777075178
|
0.00005
|
|
NM_006790.3(MYOT):c.1458G>A (p.Leu486=)
|
rs202139846
|
0.00005
|
|
NM_006892.4(DNMT3B):c.1297+10T>C
|
rs146299831
|
0.00005
|
|
NM_006915.3(RP2):c.8G>C (p.Cys3Ser)
|
rs782344765
|
0.00005
|
|
NM_006941.4(SOX10):c.768G>A (p.Pro256=)
|
rs773109683
|
0.00005
|
|
NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His)
|
rs767775507
|
0.00005
|
|
NM_006949.4(STXBP2):c.1506C>T (p.Pro502=)
|
rs773575515
|
0.00005
|
|
NM_007215.4(POLG2):c.361T>G (p.Phe121Val)
|
rs376142071
|
0.00005
|
|
NM_007259.5(VPS45):c.577-5C>T
|
rs1266646389
|
0.00005
|
|
NM_007315.4(STAT1):c.1582+7G>A
|
rs762378892
|
0.00005
|
|
NM_012144.4(DNAI1):c.1999A>G (p.Lys667Glu)
|
rs560719255
|
0.00005
|
|
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=)
|
rs750785483
|
0.00005
|
|
NM_012193.4(FZD4):c.98C>A (p.Pro33Gln)
|
rs756119359
|
0.00005
|
|
NM_014014.5(SNRNP200):c.4230C>T (p.Gly1410=)
|
rs747476940
|
0.00005
|
|
NM_014014.5(SNRNP200):c.4721T>C (p.Ile1574Thr)
|
rs199736893
|
0.00005
|
|
NM_014049.5(ACAD9):c.1717G>A (p.Val573Met)
|
rs138264216
|
0.00005
|
|
NM_014140.4(SMARCAL1):c.735C>T (p.Gly245=)
|
rs149510554
|
0.00005
|
|
NM_014141.6(CNTNAP2):c.2554+14G>T
|
rs546437079
|
0.00005
|
|
NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp)
|
rs115859828
|
0.00005
|
|
NM_014252.4(SLC25A15):c.381G>A (p.Thr127=)
|
rs543205273
|
0.00005
|
|
NM_014252.4(SLC25A15):c.388G>A (p.Val130Met)
|
rs553432772
|
0.00005
|
|
NM_014252.4(SLC25A15):c.417G>A (p.Glu139=)
|
rs752316567
|
0.00005
|
|
NM_014336.5(AIPL1):c.616A>G (p.Ile206Val)
|
rs772911646
|
0.00005
|
|
NM_014336.5(AIPL1):c.900G>C (p.Ala300=)
|
rs373590751
|
0.00005
|
|
NM_014363.6(SACS):c.11363G>A (p.Arg3788His)
|
rs147369196
|
0.00005
|
|
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu)
|
rs746953932
|
0.00005
|
|
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln)
|
rs749599838
|
0.00005
|
|
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val)
|
rs200939906
|
0.00005
|
|
NM_014363.6(SACS):c.1613C>T (p.Ala538Val)
|
rs368043113
|
0.00005
|
|
NM_014714.4(IFT140):c.2817G>A (p.Ser939=)
|
rs373651150
|
0.00005
|
|
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln)
|
rs571556177
|
0.00005
|
|
NM_014727.3(KMT2B):c.5092G>A (p.Asp1698Asn)
|
rs374963939
|
0.00005
|
|
NM_014780.5(CUL7):c.4146T>C (p.Tyr1382=)
|
rs760451045
|
0.00005
|
|
NM_014795.4(ZEB2):c.1876G>A (p.Gly626Arg)
|
rs727504224
|
0.00005
|
|
NM_014795.4(ZEB2):c.219C>T (p.His73=)
|
rs778851716
|
0.00005
|
|
NM_014822.4(SEC24D):c.1091A>G (p.Asn364Ser)
|
rs189735385
|
0.00005
|
|
NM_014855.3(AP5Z1):c.1356G>A (p.Ala452=)
|
rs558636596
|
0.00005
|
|
NM_014855.3(AP5Z1):c.1974C>T (p.Tyr658=)
|
rs375030531
|
0.00005
|
|
NM_014946.4(SPAST):c.30G>A (p.Lys10=)
|
rs768928614
|
0.00005
|
|
NM_014989.7(RIMS1):c.28C>T (p.Pro10Ser)
|
rs200935038
|
0.00005
|
|
NM_015295.3(SMCHD1):c.3802-12T>C
|
rs199707863
|
0.00005
|
|
NM_015627.3(LDLRAP1):c.201G>A (p.Ser67=)
|
rs747011377
|
0.00005
|
|
NM_015627.3(LDLRAP1):c.75T>A (p.Gly25=)
|
rs1057515462
|
0.00005
|
|
NM_015650.4(TRAF3IP1):c.1451+5G>A
|
rs200601081
|
0.00005
|
|
NM_015713.5(RRM2B):c.685-4T>G
|
rs202172163
|
0.00005
|
|
NM_015915.5(ATL1):c.1120-15C>T
|
rs771568686
|
0.00005
|
|
NM_016123.4(IRAK4):c.742C>T (p.Leu248=)
|
rs375755560
|
0.00005
|
|
NM_016239.4(MYO15A):c.4526T>C (p.Ile1509Thr)
|
rs757305597
|
0.00005
|
|
NM_016239.4(MYO15A):c.8170G>A (p.Glu2724Lys)
|
rs142465521
|
0.00005
|
|
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)
|
rs567909904
|
0.00005
|
|
NM_017636.4(TRPM4):c.1873+4C>T
|
rs746766318
|
0.00005
|
|
NM_017654.4(SAMD9):c.3519A>C (p.Arg1173Ser)
|
rs566059003
|
0.00005
|
|
NM_017654.4(SAMD9):c.4396G>A (p.Gly1466Arg)
|
rs755857667
|
0.00005
|
|
NM_017763.6(RNF43):c.1556G>A (p.Arg519Gln)
|
rs200166143
|
0.00005
|
|
NM_018060.4(IARS2):c.800G>A (p.Arg267His)
|
rs377432411
|
0.00005
|
|
NM_018136.5(ASPM):c.2532C>T (p.Val844=)
|
rs141716537
|
0.00005
|
|
NM_018668.5(VPS33B):c.1749C>T (p.Ala583=)
|
rs201436915
|
0.00005
|
|
NM_018714.3(COG1):c.20C>T (p.Ser7Leu)
|
rs200144944
|
0.00005
|
|
NM_018979.4(WNK1):c.7138C>T (p.Arg2380Trp)
|
rs56262445
|
0.00005
|
|
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)
|
rs199528231
|
0.00005
|
|
NM_020247.5(COQ8A):c.1407C>T (p.Tyr469=)
|
rs773258464
|
0.00005
|
|
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=)
|
rs774789966
|
0.00005
|
|
NM_020247.5(COQ8A):c.798G>A (p.Thr266=)
|
rs750042754
|
0.00005
|
|
NM_020376.4(PNPLA2):c.591C>T (p.Asp197=)
|
rs200897893
|
0.00005
|
|
NM_020461.4(TUBGCP6):c.4954+10C>T
|
rs200824422
|
0.00005
|
|
NM_020533.3(MCOLN1):c.876C>T (p.His292=)
|
rs199588225
|
0.00005
|
|
NM_020964.3(EPG5):c.2373C>T (p.Asp791=)
|
rs552419530
|
0.00005
|
|
NM_021008.4(DEAF1):c.1010C>G (p.Pro337Arg)
|
rs372135504
|
0.00005
|
|
NM_021076.4(NEFH):c.2362C>A (p.Pro788Thr)
|
rs1346622497
|
0.00005
|
|
NM_021098.3(CACNA1H):c.1502G>A (p.Gly501Glu)
|
rs768197900
|
0.00005
|
|
NM_021098.3(CACNA1H):c.740T>G (p.Val247Gly)
|
rs200939989
|
0.00005
|
|
NM_021615.5(CHST6):c.918C>T (p.Ile306=)
|
rs576445739
|
0.00005
|
|
NM_021913.5(AXL):c.236C>T (p.Ala79Val)
|
rs776776986
|
0.00005
|
|
NM_022081.6(HPS4):c.1857G>A (p.Pro619=)
|
rs373421312
|
0.00005
|
|
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr)
|
rs377186549
|
0.00005
|
|
NM_022124.6(CDH23):c.4857C>T (p.His1619=)
|
rs369817589
|
0.00005
|
|
NM_022436.3(ABCG5):c.1180C>T (p.Leu394=)
|
rs771802286
|
0.00005
|
|
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp)
|
rs142657029
|
0.00005
|
|
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln)
|
rs756022347
|
0.00005
|
|
NM_022489.4(INF2):c.1485G>A (p.Pro495=)
|
rs780642540
|
0.00005
|
|
NM_022489.4(INF2):c.638C>T (p.Ala213Val)
|
rs746572452
|
0.00005
|
|
NM_024685.4(BBS10):c.42G>A (p.Ala14=)
|
rs373458861
|
0.00005
|
|
NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg)
|
rs202087501
|
0.00005
|
|
NM_025099.6(CTC1):c.648-9C>T
|
rs779778738
|
0.00005
|
|
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)
|
rs375038986
|
0.00005
|
|
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)
|
rs201082396
|
0.00005
|
|
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)
|
rs752401008
|
0.00005
|
|
NM_025215.6(PUS1):c.1068G>A (p.Leu356=)
|
rs201753270
|
0.00005
|
|
NM_025216.3(WNT10A):c.551G>A (p.Arg184His)
|
rs372756514
|
0.00005
|
|
NM_030665.4(RAI1):c.3030C>A (p.Ala1010=)
|
rs542714936
|
0.00005
|
|
NM_030665.4(RAI1):c.4726C>T (p.Arg1576Cys)
|
rs199790171
|
0.00005
|
|
NM_031475.3(ESPN):c.2027C>G (p.Thr676Arg)
|
rs771737095
|
0.00005
|
|
NM_032119.4(ADGRV1):c.10475C>T (p.Ser3492Phe)
|
rs375619656
|
0.00005
|
|
NM_032119.4(ADGRV1):c.11253C>T (p.Tyr3751=)
|
rs376689763
|
0.00005
|
|
NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile)
|
rs200943280
|
0.00005
|
|
NM_032119.4(ADGRV1):c.12688G>A (p.Glu4230Lys)
|
rs777661211
|
0.00005
|
|
NM_032119.4(ADGRV1):c.13340G>A (p.Gly4447Asp)
|
rs532839486
|
0.00005
|
|
NM_032119.4(ADGRV1):c.15884A>T (p.Glu5295Val)
|
rs766907011
|
0.00005
|
|
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp)
|
rs376505416
|
0.00005
|
|
NM_032119.4(ADGRV1):c.18144T>C (p.His6048=)
|
rs188017433
|
0.00005
|
|
NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met)
|
rs377173958
|
0.00005
|
|
NM_032119.4(ADGRV1):c.4703G>A (p.Ser1568Asn)
|
rs758104018
|
0.00005
|
|
NM_032119.4(ADGRV1):c.4786G>A (p.Val1596Ile)
|
rs371179945
|
0.00005
|
|
NM_032119.4(ADGRV1):c.5574C>A (p.Asp1858Glu)
|
rs771317730
|
0.00005
|
|
NM_032119.4(ADGRV1):c.6859G>A (p.Val2287Ile)
|
rs868801998
|
0.00005
|
|
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe)
|
rs376318779
|
0.00005
|
|
NM_032409.3(PINK1):c.1065A>G (p.Gln355=)
|
rs370470902
|
0.00005
|
|
NM_032581.4(HYCC1):c.281A>G (p.Asn94Ser)
|
rs201252505
|
0.00005
|
|
NM_033159.4(HYAL1):c.150C>T (p.Asp50=)
|
rs377272298
|
0.00005
|
|
NM_033159.4(HYAL1):c.846G>A (p.Pro282=)
|
rs782094366
|
0.00005
|
|
NM_033380.3(COL4A5):c.2348C>T (p.Pro783Leu)
|
rs747288279
|
0.00005
|
|
NM_033380.3(COL4A5):c.4550G>A (p.Arg1517His)
|
rs104886285
|
0.00005
|
|
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
|
rs142070439
|
0.00005
|
|
NM_052867.4(NALCN):c.1765-6T>G
|
rs370198465
|
0.00005
|
|
NM_052989.3(IFT122):c.228C>T (p.Ser76=)
|
rs772835552
|
0.00005
|
|
NM_052989.3(IFT122):c.876C>T (p.Gly292=)
|
rs768782991
|
0.00005
|
|
NM_053025.4(MYLK):c.5702C>T (p.Thr1901Met)
|
rs200490629
|
0.00005
|
|
NM_080680.3(COL11A2):c.2591C>A (p.Ser864Tyr)
|
rs373490721
|
0.00005
|
|
NM_080680.3(COL11A2):c.3675C>T (p.Gly1225=)
|
rs771644818
|
0.00005
|
|
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp)
|
rs370966667
|
0.00005
|
|
NM_130837.3(OPA1):c.2544T>A (p.Asn848Lys)
|
rs758248456
|
0.00005
|
|
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=)
|
rs143000400
|
0.00005
|
|
NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=)
|
rs115686643
|
0.00005
|
|
NM_138691.3(TMC1):c.885-11T>C
|
rs768694342
|
0.00005
|
|
NM_144997.7(FLCN):c.1265C>T (p.Pro422Leu)
|
rs565447853
|
0.00005
|
|
NM_152383.5(DIS3L2):c.1125-6T>G
|
rs764758535
|
0.00005
|
|
NM_152383.5(DIS3L2):c.1158C>T (p.Thr386=)
|
rs539081624
|
0.00005
|
|
NM_152383.5(DIS3L2):c.2159-7T>C
|
rs368022190
|
0.00005
|
|
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=)
|
rs145950999
|
0.00005
|
|
NM_152564.5(VPS13B):c.1652-9T>A
|
rs375615155
|
0.00005
|
|
NM_152783.5(D2HGDH):c.1306+7G>A
|
rs537773004
|
0.00005
|
|
NM_152783.5(D2HGDH):c.854-8C>T
|
rs758727451
|
0.00005
|
|
NM_153252.5(BRWD3):c.436A>G (p.Ile146Val)
|
rs758672244
|
0.00005
|
|
NM_153676.4(USH1C):c.1234G>A (p.Asp412Asn)
|
rs727503712
|
0.00005
|
|
NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr)
|
rs201104489
|
0.00005
|
|
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)
|
rs199749473
|
0.00005
|
|
NM_172250.3(MMAA):c.912G>A (p.Ala304=)
|
rs371769807
|
0.00005
|
|
NM_172364.5(CACNA2D4):c.2054+4A>T
|
rs200648405
|
0.00005
|
|
NM_173354.5(SIK1):c.1055A>G (p.Gln352Arg)
|
rs767076281
|
0.00005
|
|
NM_173689.7(CRB2):c.1110C>T (p.Gly370=)
|
rs145948620
|
0.00005
|
|
NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile)
|
rs3796241
|
0.00005
|
|
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln)
|
rs139669564
|
0.00005
|
|
NM_177972.3(TUB):c.1214A>G (p.Asn405Ser)
|
rs189328202
|
0.00005
|
|
NM_181332.3(NLGN4X):c.999G>A (p.Pro333=)
|
rs398124367
|
0.00005
|
|
NM_182894.3(VSX2):c.504C>T (p.Asn168=)
|
rs550984628
|
0.00005
|
|
NM_183357.3(ADCY5):c.2564C>T (p.Thr855Met)
|
rs138954200
|
0.00005
|
|
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln)
|
rs147978393
|
0.00005
|
|
NM_194248.3(OTOF):c.2567A>T (p.Asn856Ile)
|
rs752804141
|
0.00005
|
|
NM_194248.3(OTOF):c.3865-12G>A
|
rs374902867
|
0.00005
|
|
NM_198999.3(SLC26A5):c.2079T>C (p.Phe693=)
|
rs762004358
|
0.00005
|
|
NM_206933.4(USH2A):c.14073C>T (p.Asn4691=)
|
rs370364142
|
0.00005
|
|
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met)
|
rs201847741
|
0.00005
|
|
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val)
|
rs753594462
|
0.00005
|
|
NM_206933.4(USH2A):c.14760C>T (p.Ser4920=)
|
rs778669346
|
0.00005
|
|
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp)
|
rs201281141
|
0.00005
|
|
NM_207361.6(FREM2):c.6807G>A (p.Ser2269=)
|
rs752080876
|
0.00005
|
|
NM_000016.6(ACADM):c.287-10G>C
|
rs368875210
|
0.00004
|
|
NM_000016.6(ACADM):c.57T>C (p.His19=)
|
rs762984318
|
0.00004
|
|
NM_000017.4(ACADS):c.1104C>T (p.Gly368=)
|
rs200165866
|
0.00004
|
|
NM_000018.4(ACADVL):c.139-20C>T
|
rs374535729
|
0.00004
|
|
NM_000018.4(ACADVL):c.342+15G>A
|
rs777751102
|
0.00004
|
|
NM_000022.4(ADA):c.21C>T (p.Phe7=)
|
rs925528695
|
0.00004
|
|
NM_000022.4(ADA):c.642C>T (p.His214=)
|
rs562055008
|
0.00004
|
|
NM_000023.4(SGCA):c.1053C>T (p.Arg351=)
|
rs148373921
|
0.00004
|
|
NM_000023.4(SGCA):c.90A>G (p.Pro30=)
|
rs754840688
|
0.00004
|
|
NM_000026.4(ADSL):c.1011-9G>C
|
rs780794164
|
0.00004
|
|
NM_000027.4(AGA):c.24T>C (p.Pro8=)
|
rs34413111
|
0.00004
|
|
NM_000038.6(APC):c.1762G>A (p.Val588Ile)
|
rs372416031
|
0.00004
|
|
NM_000038.6(APC):c.2948T>C (p.Ile983Thr)
|
rs113674464
|
0.00004
|
|
NM_000038.6(APC):c.4055T>C (p.Val1352Ala)
|
rs528724202
|
0.00004
|
|
NM_000038.6(APC):c.4395T>A (p.Ser1465Arg)
|
rs779898882
|
0.00004
|
|
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)
|
rs368080169
|
0.00004
|
|
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)
|
rs138137162
|
0.00004
|
|
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn)
|
rs369721828
|
0.00004
|
|
NM_000045.4(ARG1):c.944T>C (p.Ile315Thr)
|
rs202219126
|
0.00004
|
|
NM_000046.5(ARSB):c.105G>A (p.Pro35=)
|
rs1423589060
|
0.00004
|
|
NM_000046.5(ARSB):c.1086G>A (p.Arg362=)
|
rs144879531
|
0.00004
|
|
NM_000046.5(ARSB):c.510G>C (p.Leu170=)
|
rs768312895
|
0.00004
|
|
NM_000046.5(ARSB):c.975C>T (p.Gly325=)
|
rs75766476
|
0.00004
|
|
NM_000048.4(ASL):c.1063-8G>A
|
rs548397162
|
0.00004
|
|
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)
|
rs201719927
|
0.00004
|
|
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)
|
rs587779816
|
0.00004
|
|
NM_000051.4(ATM):c.2836A>G (p.Met946Val)
|
rs587781992
|
0.00004
|
|
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)
|
rs587781545
|
0.00004
|
|
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile)
|
rs576884305
|
0.00004
|
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
|
NM_000051.4(ATM):c.4777-13T>A
|
rs371535082
|
0.00004
|
|
NM_000051.4(ATM):c.8391T>C (p.Ser2797=)
|
rs566485657
|
0.00004
|
|
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
|
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)
|
rs778775834
|
0.00004
|
|
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu)
|
rs750724856
|
0.00004
|
|
NM_000053.4(ATP7B):c.1605G>A (p.Glu535=)
|
rs762567255
|
0.00004
|
|
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=)
|
rs770787421
|
0.00004
|
|
NM_000053.4(ATP7B):c.2763T>C (p.Ser921=)
|
rs1052485948
|
0.00004
|
|
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=)
|
rs200597654
|
0.00004
|
|
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=)
|
rs767721448
|
0.00004
|
|
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu)
|
rs201427280
|
0.00004
|
|
NM_000059.4(BRCA2):c.-41G>A
|
rs879255312
|
0.00004
|
|
NM_000059.4(BRCA2):c.136C>T (p.Pro46Ser)
|
rs80358425
|
0.00004
|
|
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)
|
rs398122731
|
0.00004
|
|
NM_000059.4(BRCA2):c.267G>A (p.Pro89=)
|
rs587780648
|
0.00004
|
|
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)
|
rs80358531
|
0.00004
|
|
NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys)
|
rs376338226
|
0.00004
|
|
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=)
|
rs376257217
|
0.00004
|
|
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)
|
rs397507367
|
0.00004
|
|
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu)
|
rs55763607
|
0.00004
|
|
NM_000062.3(SERPING1):c.117C>G (p.Asp39Glu)
|
rs11229062
|
0.00004
|
|
NM_000062.3(SERPING1):c.826C>T (p.Arg276Trp)
|
rs768520560
|
0.00004
|
|
NM_000064.4(C3):c.4803C>T (p.His1601=)
|
rs762332809
|
0.00004
|
|
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys)
|
rs532351874
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys)
|
rs373328930
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2453C>T (p.Ala818Val)
|
rs372668776
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met)
|
rs202131129
|
0.00004
|
|
NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met)
|
rs777328046
|
0.00004
|
|
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln)
|
rs775009783
|
0.00004
|
|
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His)
|
rs201463541
|
0.00004
|
|
NM_000069.3(CACNA1S):c.454A>G (p.Met152Val)
|
rs369332959
|
0.00004
|
|
NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys)
|
rs368421264
|
0.00004
|
|
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)
|
rs200848930
|
0.00004
|
|
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe)
|
rs747238231
|
0.00004
|
|
NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile)
|
rs767571919
|
0.00004
|
|
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp)
|
rs186538122
|
0.00004
|
|
NM_000070.3(CAPN3):c.1557C>T (p.His519=)
|
rs368385372
|
0.00004
|
|
NM_000070.3(CAPN3):c.2040C>T (p.Val680=)
|
rs200583904
|
0.00004
|
|
NM_000071.3(CBS):c.1281G>A (p.Pro427=)
|
rs563330591
|
0.00004
|
|
NM_000071.3(CBS):c.1512G>A (p.Glu504=)
|
rs149170219
|
0.00004
|
|
NM_000079.4(CHRNA1):c.111C>T (p.Ser37=)
|
rs886055151
|
0.00004
|
|
NM_000082.4(ERCC8):c.510T>C (p.Leu170=)
|
rs886042104
|
0.00004
|
|
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn)
|
rs765336013
|
0.00004
|
|
NM_000091.5(COL4A3):c.672A>G (p.Gly224=)
|
rs375059614
|
0.00004
|
|
NM_000092.5(COL4A4):c.90C>T (p.Leu30=)
|
rs747805491
|
0.00004
|
|
NM_000094.4(COL7A1):c.1167G>A (p.Thr389=)
|
rs377732069
|
0.00004
|
|
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys)
|
rs142108058
|
0.00004
|
|
NM_000094.4(COL7A1):c.3411C>T (p.Ala1137=)
|
rs548139799
|
0.00004
|
|
NM_000094.4(COL7A1):c.3917G>A (p.Arg1306His)
|
rs558424479
|
0.00004
|
|
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser)
|
rs200290149
|
0.00004
|
|
NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln)
|
rs570707807
|
0.00004
|
|
NM_000094.4(COL7A1):c.5132C>T (p.Thr1711Ile)
|
rs771521596
|
0.00004
|
|
NM_000094.4(COL7A1):c.5736+9G>A
|
rs777097228
|
0.00004
|
|
NM_000094.4(COL7A1):c.5929C>T (p.Arg1977Cys)
|
rs765130674
|
0.00004
|
|
NM_000098.3(CPT2):c.1645+15G>T
|
rs753344588
|
0.00004
|
|
NM_000098.3(CPT2):c.721A>G (p.Arg241Gly)
|
rs200252755
|
0.00004
|
|
NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu)
|
rs373277796
|
0.00004
|
|
NM_000124.4(ERCC6):c.352C>T (p.His118Tyr)
|
rs377708438
|
0.00004
|
|
NM_000127.3(EXT1):c.1743G>A (p.Val581=)
|
rs375284779
|
0.00004
|
|
NM_000128.4(F11):c.56-6T>C
|
rs374122923
|
0.00004
|
|
NM_000130.5(F5):c.586+11C>A
|
rs199638362
|
0.00004
|
|
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys)
|
rs200291237
|
0.00004
|
|
NM_000135.4(FANCA):c.1777-15C>G
|
rs371919426
|
0.00004
|
|
NM_000135.4(FANCA):c.189+7G>A
|
rs369985388
|
0.00004
|
|
NM_000135.4(FANCA):c.2009G>A (p.Arg670His)
|
rs537923341
|
0.00004
|
|
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser)
|
rs757468756
|
0.00004
|
|
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser)
|
rs370085403
|
0.00004
|
|
NM_000135.4(FANCA):c.2982-8C>G
|
rs781331325
|
0.00004
|
|
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)
|
rs200022826
|
0.00004
|
|
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser)
|
rs762837582
|
0.00004
|
|
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu)
|
rs760814763
|
0.00004
|
|
NM_000135.4(FANCA):c.793-9T>C
|
rs757500718
|
0.00004
|
|
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg)
|
rs764121307
|
0.00004
|
|
NM_000137.4(FAH):c.81+8G>A
|
rs188046704
|
0.00004
|
|
NM_000138.5(FBN1):c.1880G>A (p.Arg627His)
|
rs746073643
|
0.00004
|
|
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr)
|
rs955639059
|
0.00004
|
|
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser)
|
rs145464311
|
0.00004
|
|
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys)
|
rs763485521
|
0.00004
|
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
|
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)
|
rs749196340
|
0.00004
|
|
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln)
|
rs774798866
|
0.00004
|
|
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val)
|
rs766850261
|
0.00004
|
|
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)
|
rs765878996
|
0.00004
|
|
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)
|
rs530059069
|
0.00004
|
|
NM_000142.5(FGFR3):c.1752G>A (p.Pro584=)
|
rs139020690
|
0.00004
|
|
NM_000142.5(FGFR3):c.2028C>T (p.Asp676=)
|
rs754598297
|
0.00004
|
|
NM_000142.5(FGFR3):c.940G>A (p.Ala314Thr)
|
rs748488719
|
0.00004
|
|
NM_000142.5(FGFR3):c.985G>A (p.Val329Ile)
|
rs188723332
|
0.00004
|
|
NM_000143.4(FH):c.302G>A (p.Arg101Gln)
|
rs75086406
|
0.00004
|
|
NM_000152.5(GAA):c.1245G>A (p.Thr415=)
|
rs760920034
|
0.00004
|
|
NM_000152.5(GAA):c.138C>T (p.Ser46=)
|
rs753375900
|
0.00004
|
|
NM_000152.5(GAA):c.2151C>T (p.His717=)
|
rs758725073
|
0.00004
|
|
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys)
|
rs377249041
|
0.00004
|
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
|
NM_000152.5(GAA):c.912C>T (p.Gly304=)
|
rs368741815
|
0.00004
|
|
NM_000153.4(GALC):c.28T>C (p.Trp10Arg)
|
rs767913083
|
0.00004
|
|
NM_000155.4(GALT):c.270T>C (p.Asp90=)
|
rs1300102277
|
0.00004
|
|
NM_000158.4(GBE1):c.1932G>A (p.Gly644=)
|
rs544906178
|
0.00004
|
|
NM_000159.4(GCDH):c.945C>T (p.Tyr315=)
|
rs138133019
|
0.00004
|
|
NM_000166.6(GJB1):c.637A>G (p.Ile213Val)
|
rs753503984
|
0.00004
|
|
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser)
|
rs781312706
|
0.00004
|
|
NM_000170.3(GLDC):c.1483-15G>C
|
rs371777070
|
0.00004
|
|
NM_000170.3(GLDC):c.150G>A (p.Ser50=)
|
rs768354829
|
0.00004
|
|
NM_000170.3(GLDC):c.1626A>G (p.Glu542=)
|
rs779537709
|
0.00004
|
|
NM_000170.3(GLDC):c.489A>G (p.Pro163=)
|
rs770044310
|
0.00004
|
|
NM_000181.4(GUSB):c.324G>A (p.Pro108=)
|
rs546131174
|
0.00004
|
|
NM_000183.3(HADHB):c.64+15A>T
|
rs1018820638
|
0.00004
|
|
NM_000186.4(CFH):c.2596+8G>T
|
rs375176505
|
0.00004
|
|
NM_000187.4(HGD):c.177-5T>C
|
rs768308376
|
0.00004
|
|
NM_000199.5(SGSH):c.1134C>T (p.Ser378=)
|
rs771257931
|
0.00004
|
|
NM_000199.5(SGSH):c.792C>T (p.Asn264=)
|
rs147962306
|
0.00004
|
|
NM_000199.5(SGSH):c.89-10C>T
|
rs766929408
|
0.00004
|
|
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)
|
rs202191662
|
0.00004
|
|
NM_000203.5(IDUA):c.1482C>G (p.Val494=)
|
rs999890083
|
0.00004
|
|
NM_000203.5(IDUA):c.30G>A (p.Leu10=)
|
rs549738466
|
0.00004
|
|
NM_000203.5(IDUA):c.957G>C (p.Ala319=)
|
rs748350723
|
0.00004
|
|
NM_000206.3(IL2RG):c.1105A>G (p.Thr369Ala)
|
rs374270413
|
0.00004
|
|
NM_000213.5(ITGB4):c.3221G>A (p.Arg1074His)
|
rs147026529
|
0.00004
|
|
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val)
|
rs142742183
|
0.00004
|
|
NM_000215.4(JAK3):c.2254C>T (p.Leu752=)
|
rs200123352
|
0.00004
|
|
NM_000215.4(JAK3):c.2350+7G>A
|
rs200658439
|
0.00004
|
|
NM_000215.4(JAK3):c.2535C>T (p.Gly845=)
|
rs200746503
|
0.00004
|
|
NM_000215.4(JAK3):c.2772C>T (p.Ser924=)
|
rs199939250
|
0.00004
|
|
NM_000222.3(KIT):c.2802+9A>G
|
rs369450271
|
0.00004
|
|
NM_000235.4(LIPA):c.967-13C>A
|
rs762226885
|
0.00004
|
|
NM_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln)
|
rs41307270
|
0.00004
|
|
NM_000239.3(LYZ):c.156G>A (p.Trp52Ter)
|
rs764263034
|
0.00004
|
|
NM_000243.3(MEFV):c.1527C>T (p.Leu509=)
|
rs571832030
|
0.00004
|
|
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)
|
rs104895118
|
0.00004
|
|
NM_000246.4(CIITA):c.2617T>C (p.Leu873=)
|
rs368233530
|
0.00004
|
|
NM_000246.4(CIITA):c.3012C>T (p.Val1004=)
|
rs751445508
|
0.00004
|
|
NM_000252.3(MTM1):c.1383A>G (p.Gln461=)
|
rs782410861
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=)
|
rs375007425
|
0.00004
|
|
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)
|
rs886050418
|
0.00004
|
|
NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala)
|
rs369142107
|
0.00004
|
|
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)
|
rs782607566
|
0.00004
|
|
NM_000260.4(MYO7A):c.3729G>A (p.Pro1243=)
|
rs727504023
|
0.00004
|
|
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr)
|
rs376291076
|
0.00004
|
|
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu)
|
rs781893704
|
0.00004
|
|
NM_000260.4(MYO7A):c.61G>A (p.Asp21Asn)
|
rs782546306
|
0.00004
|
|
NM_000260.4(MYO7A):c.6426T>A (p.Asp2142Glu)
|
rs374575441
|
0.00004
|
|
NM_000262.3(NAGA):c.582C>T (p.Gly194=)
|
rs553977653
|
0.00004
|
|
NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser)
|
rs181192122
|
0.00004
|
|
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn)
|
rs750373573
|
0.00004
|
|
NM_000264.5(PTCH1):c.2866A>G (p.Met956Val)
|
rs587780699
|
0.00004
|
|
NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val)
|
rs376844749
|
0.00004
|
|
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)
|
rs187104739
|
0.00004
|
|
NM_000268.4(NF2):c.255T>C (p.Asp85=)
|
rs375802248
|
0.00004
|
|
NM_000270.4(PNP):c.678C>T (p.Ile226=)
|
rs563086985
|
0.00004
|
|
NM_000271.5(NPC1):c.1947+12G>T
|
rs886053666
|
0.00004
|
|
NM_000271.5(NPC1):c.2514+15G>A
|
rs765825660
|
0.00004
|
|
NM_000271.5(NPC1):c.695A>G (p.Asp232Gly)
|
rs201956601
|
0.00004
|
|
NM_000277.3(PAH):c.1002C>T (p.Cys334=)
|
rs140243918
|
0.00004
|
|
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu)
|
rs62517206
|
0.00004
|
|
NM_000277.3(PAH):c.420G>A (p.Ala140=)
|
rs200366386
|
0.00004
|
|
NM_000282.4(PCCA):c.819+9A>G
|
rs372739944
|
0.00004
|
|
NM_000282.4(PCCA):c.825A>G (p.Leu275=)
|
rs376560248
|
0.00004
|
|
NM_000288.4(PEX7):c.804-5C>T
|
rs369653173
|
0.00004
|
|
NM_000289.6(PFKM):c.1770C>T (p.Ala590=)
|
rs751097669
|
0.00004
|
|
NM_000289.6(PFKM):c.978G>A (p.Glu326=)
|
rs550083752
|
0.00004
|
|
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp)
|
rs760502380
|
0.00004
|
|
NM_000295.5(SERPINA1):c.211A>C (p.Ser71Arg)
|
rs11575873
|
0.00004
|
|
NM_000302.4(PLOD1):c.1584+10G>A
|
rs756917169
|
0.00004
|
|
NM_000303.3(PMM2):c.639+10G>A
|
rs200593954
|
0.00004
|
|
NM_000308.4(CTSA):c.1164+7G>A
|
rs775198775
|
0.00004
|
|
NM_000310.4(PPT1):c.234+7C>T
|
rs200777536
|
0.00004
|
|
NM_000312.4(PROC):c.1065C>T (p.Asn355=)
|
rs548020208
|
0.00004
|
|
NM_000312.4(PROC):c.1272G>A (p.Glu424=)
|
rs770534863
|
0.00004
|
|
NM_000316.3(PTH1R):c.645G>T (p.Leu215=)
|
rs201490454
|
0.00004
|
|
NM_000329.3(RPE65):c.1129-5C>T
|
rs368533067
|
0.00004
|
|
NM_000330.4(RS1):c.185-3221G>C
|
rs374054249
|
0.00004
|
|
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser)
|
rs199473552
|
0.00004
|
|
NM_000335.5(SCN5A):c.1914C>T (p.Gly638=)
|
rs764488677
|
0.00004
|
|
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=)
|
rs878911306
|
0.00004
|
|
NM_000335.5(SCN5A):c.3204C>T (p.Gly1068=)
|
rs1464663200
|
0.00004
|
|
NM_000335.5(SCN5A):c.4467G>A (p.Glu1489=)
|
rs375026424
|
0.00004
|
|
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val)
|
rs199473561
|
0.00004
|
|
NM_000338.3(SLC12A1):c.2262C>T (p.Asp754=)
|
rs372953090
|
0.00004
|
|
NM_000338.3(SLC12A1):c.2278G>A (p.Val760Ile)
|
rs763036680
|
0.00004
|
|
NM_000340.2(SLC2A2):c.612+10C>A
|
rs762632420
|
0.00004
|
|
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=)
|
rs760943092
|
0.00004
|
|
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)
|
rs121912757
|
0.00004
|
|
NM_000343.4(SLC5A1):c.813G>A (p.Thr271=)
|
rs200849778
|
0.00004
|
|
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met)
|
rs74516571
|
0.00004
|
|
NM_000350.3(ABCA4):c.2487G>A (p.Thr829=)
|
rs770089512
|
0.00004
|
|
NM_000350.3(ABCA4):c.4128+12G>A
|
rs746262766
|
0.00004
|
|
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=)
|
rs202199507
|
0.00004
|
|
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=)
|
rs191506332
|
0.00004
|
|
NM_000350.3(ABCA4):c.575C>T (p.Ala192Val)
|
rs185729337
|
0.00004
|
|
NM_000352.6(ABCC8):c.1536C>T (p.Tyr512=)
|
rs765090096
|
0.00004
|
|
NM_000352.6(ABCC8):c.1924-10C>T
|
rs200823913
|
0.00004
|
|
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)
|
rs759961510
|
0.00004
|
|
NM_000352.6(ABCC8):c.3558-7G>A
|
rs900191703
|
0.00004
|
|
NM_000352.6(ABCC8):c.942C>T (p.Phe314=)
|
rs768582290
|
0.00004
|
|
NM_000360.4(TH):c.1317C>T (p.Asp439=)
|
rs375440221
|
0.00004
|
|
NM_000360.4(TH):c.1470C>G (p.Ala490=)
|
rs777477661
|
0.00004
|
|
NM_000372.5(TYR):c.759A>T (p.Gly253=)
|
rs200936835
|
0.00004
|
|
NM_000383.4(AIRE):c.1398C>T (p.Pro466=)
|
rs1402673356
|
0.00004
|
|
NM_000383.4(AIRE):c.351C>T (p.Ala117=)
|
rs201929488
|
0.00004
|
|
NM_000384.3(APOB):c.10276G>A (p.Ala3426Thr)
|
rs753767897
|
0.00004
|
|
NM_000384.3(APOB):c.11303T>C (p.Ile3768Thr)
|
rs376825639
|
0.00004
|
|
NM_000384.3(APOB):c.11503A>C (p.Ile3835Leu)
|
rs776119459
|
0.00004
|
|
NM_000384.3(APOB):c.11840G>A (p.Gly3947Glu)
|
rs770531319
|
0.00004
|
|
NM_000384.3(APOB):c.12136C>T (p.Arg4046Trp)
|
rs200222843
|
0.00004
|
|
NM_000384.3(APOB):c.12536C>T (p.Thr4179Ile)
|
rs370180297
|
0.00004
|
|
NM_000384.3(APOB):c.1400C>G (p.Ala467Gly)
|
rs376602710
|
0.00004
|
|
NM_000384.3(APOB):c.1753C>A (p.Gln585Lys)
|
rs140101603
|
0.00004
|
|
NM_000384.3(APOB):c.1910A>G (p.Tyr637Cys)
|
rs766573431
|
0.00004
|
|
NM_000384.3(APOB):c.1951G>C (p.Ala651Pro)
|
rs377179209
|
0.00004
|
|
NM_000384.3(APOB):c.3904T>C (p.Phe1302Leu)
|
rs201926213
|
0.00004
|
|
NM_000384.3(APOB):c.4298C>T (p.Ser1433Leu)
|
rs200708197
|
0.00004
|
|
NM_000384.3(APOB):c.4441G>A (p.Val1481Ile)
|
rs748985164
|
0.00004
|
|
NM_000384.3(APOB):c.6100A>G (p.Ile2034Val)
|
rs200339216
|
0.00004
|
|
NM_000384.3(APOB):c.8635A>T (p.Asn2879Tyr)
|
rs200367807
|
0.00004
|
|
NM_000392.5(ABCC2):c.213C>T (p.Phe71=)
|
rs770824435
|
0.00004
|
|
NM_000392.5(ABCC2):c.3591C>G (p.Val1197=)
|
rs774159224
|
0.00004
|
|
NM_000419.5(ITGA2B):c.1383C>T (p.Asn461=)
|
rs367831764
|
0.00004
|
|
NM_000419.5(ITGA2B):c.858C>T (p.Val286=)
|
rs376672078
|
0.00004
|
|
NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr)
|
rs794727815
|
0.00004
|
|
NM_000428.3(LTBP2):c.2119A>C (p.Ser707Arg)
|
rs145201197
|
0.00004
|
|
NM_000433.4(NCF2):c.636C>T (p.Asp212=)
|
rs774027102
|
0.00004
|
|
NM_000435.3(NOTCH3):c.1729A>G (p.Thr577Ala)
|
rs368181126
|
0.00004
|
|
NM_000435.3(NOTCH3):c.1873G>A (p.Ala625Thr)
|
rs747633377
|
0.00004
|
|
NM_000435.3(NOTCH3):c.3566T>C (p.Phe1189Ser)
|
rs764617561
|
0.00004
|
|
NM_000435.3(NOTCH3):c.488G>A (p.Arg163Gln)
|
rs761209241
|
0.00004
|
|
NM_000435.3(NOTCH3):c.6437C>T (p.Ala2146Val)
|
rs770739669
|
0.00004
|
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00004
|
|
NM_000443.4(ABCB4):c.1356+10A>G
|
rs374723850
|
0.00004
|
|
NM_000452.3(SLC10A2):c.846G>A (p.Glu282=)
|
rs746750365
|
0.00004
|
|
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile)
|
rs587778695
|
0.00004
|
|
NM_000455.5(STK11):c.1109-3C>T
|
rs864622219
|
0.00004
|
|
NM_000455.5(STK11):c.298C>G (p.Gln100Glu)
|
rs757841535
|
0.00004
|
|
NM_000455.5(STK11):c.355A>G (p.Asn119Asp)
|
rs545015076
|
0.00004
|
|
NM_000455.5(STK11):c.374+11C>T
|
rs368923696
|
0.00004
|
|
NM_000455.5(STK11):c.827G>T (p.Gly276Val)
|
rs749927908
|
0.00004
|
|
NM_000458.4(HNF1B):c.1008C>T (p.His336=)
|
rs150268130
|
0.00004
|
|
NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=)
|
rs780554506
|
0.00004
|
|
NM_000465.4(BARD1):c.1473G>A (p.Gly491=)
|
rs151080730
|
0.00004
|
|
NM_000465.4(BARD1):c.2280G>A (p.Ser760=)
|
rs749959440
|
0.00004
|
|
NM_000465.4(BARD1):c.783A>G (p.Leu261=)
|
rs201862973
|
0.00004
|
|
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn)
|
rs374010060
|
0.00004
|
|
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly)
|
rs184095519
|
0.00004
|
|
NM_000481.4(AMT):c.195C>T (p.His65=)
|
rs145243292
|
0.00004
|
|
NM_000481.4(AMT):c.283G>A (p.Val95Met)
|
rs183396486
|
0.00004
|
|
NM_000484.4(APP):c.727G>A (p.Asp243Asn)
|
rs750279232
|
0.00004
|
|
NM_000484.4(APP):c.917G>A (p.Arg306His)
|
rs202218688
|
0.00004
|
|
NM_000489.6(ATRX):c.2484G>C (p.Met828Ile)
|
rs782705007
|
0.00004
|
|
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)
|
rs369871569
|
0.00004
|
|
NM_000492.4(CFTR):c.1679+9C>G
|
rs775440240
|
0.00004
|
|
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)
|
rs397508332
|
0.00004
|
|
NM_000492.4(CFTR):c.2490+14G>T
|
rs573016418
|
0.00004
|
|
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe)
|
rs139729994
|
0.00004
|
|
NM_000492.4(CFTR):c.3964-28G>A
|
rs397508651
|
0.00004
|
|
NM_000493.4(COL10A1):c.2038A>G (p.Met680Val)
|
rs145003921
|
0.00004
|
|
NM_000498.3(CYP11B2):c.737G>A (p.Arg246His)
|
rs369953763
|
0.00004
|
|
NM_000506.5(F2):c.285G>A (p.Thr95=)
|
rs147892497
|
0.00004
|
|
NM_000516.7(GNAS):c.108C>T (p.Val36=)
|
rs146581290
|
0.00004
|
|
NM_000518.5(HBB):c.316-81T>A
|
rs911937119
|
0.00004
|
|
NM_000518.5(HBB):c.85C>T (p.Leu29=)
|
rs33958088
|
0.00004
|
|
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)
|
rs575121167
|
0.00004
|
|
NM_000521.4(HEXB):c.672T>C (p.Asp224=)
|
rs761223179
|
0.00004
|
|
NM_000525.4(KCNJ11):c.567C>T (p.Ile189=)
|
rs114899765
|
0.00004
|
|
NM_000527.5(LDLR):c.1078G>C (p.Asp360His)
|
rs777926251
|
0.00004
|
|
NM_000527.5(LDLR):c.1279A>C (p.Arg427=)
|
rs371355878
|
0.00004
|
|
NM_000527.5(LDLR):c.1358+7G>A
|
rs369709333
|
0.00004
|
|
NM_000527.5(LDLR):c.1988-13T>G
|
rs200201131
|
0.00004
|
|
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser)
|
rs767199154
|
0.00004
|
|
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=)
|
rs369071579
|
0.00004
|
|
NM_000528.4(MAN2B1):c.2047-4G>A
|
rs768347546
|
0.00004
|
|
NM_000528.4(MAN2B1):c.2047-5C>T
|
rs200424566
|
0.00004
|
|
NM_000528.4(MAN2B1):c.282C>T (p.His94=)
|
rs766810849
|
0.00004
|
|
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln)
|
rs577625696
|
0.00004
|
|
NM_000539.3(RHO):c.362-10T>C
|
rs568571580
|
0.00004
|
|
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=)
|
rs770132934
|
0.00004
|
|
NM_000540.3(RYR1):c.10485G>C (p.Lys3495Asn)
|
rs753726014
|
0.00004
|
|
NM_000540.3(RYR1):c.10917G>A (p.Thr3639=)
|
rs371952058
|
0.00004
|
|
NM_000540.3(RYR1):c.13269G>A (p.Glu4423=)
|
rs896569937
|
0.00004
|
|
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys)
|
rs752192756
|
0.00004
|
|
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=)
|
rs763954439
|
0.00004
|
|
NM_000540.3(RYR1):c.14700C>T (p.Asp4900=)
|
rs759063883
|
0.00004
|
|
NM_000540.3(RYR1):c.3021C>T (p.Ser1007=)
|
rs143891703
|
0.00004
|
|
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu)
|
rs759317223
|
0.00004
|
|
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)
|
rs202225176
|
0.00004
|
|
NM_000540.3(RYR1):c.5638G>A (p.Glu1880Lys)
|
rs777733662
|
0.00004
|
|
NM_000540.3(RYR1):c.7689C>G (p.Thr2563=)
|
rs781110591
|
0.00004
|
|
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn)
|
rs566495420
|
0.00004
|
|
NM_000540.3(RYR1):c.9354G>A (p.Ala3118=)
|
rs146408926
|
0.00004
|
|
NM_000540.3(RYR1):c.9477C>T (p.Asp3159=)
|
rs139409128
|
0.00004
|
|
NM_000545.8(HNF1A):c.1502-14T>C
|
rs765596650
|
0.00004
|
|
NM_000545.8(HNF1A):c.527-18G>A
|
rs375259151
|
0.00004
|
|
NM_000546.6(TP53):c.642T>G (p.His214Gln)
|
rs587781386
|
0.00004
|
|
NM_000546.6(TP53):c.91G>A (p.Val31Ile)
|
rs201753350
|
0.00004
|
|
NM_000546.6(TP53):c.998G>A (p.Arg333His)
|
rs573154688
|
0.00004
|
|
NM_000548.5(TSC2):c.1931G>A (p.Cys644Tyr)
|
rs758301934
|
0.00004
|
|
NM_000553.6(WRN):c.3778G>A (p.Ala1260Thr)
|
rs201107091
|
0.00004
|
|
NM_000553.6(WRN):c.3881C>T (p.Ala1294Val)
|
rs146861737
|
0.00004
|
|
NM_000642.3(AGL):c.1899+9C>G
|
rs768285138
|
0.00004
|
|
NM_000642.3(AGL):c.241T>C (p.Cys81Arg)
|
rs201584227
|
0.00004
|
|
NM_000642.3(AGL):c.3738A>T (p.Gly1246=)
|
rs780617757
|
0.00004
|
|
NM_000751.3(CHRND):c.1253-10T>G
|
rs199508773
|
0.00004
|
|
NM_000780.4(CYP7A1):c.1409T>C (p.Ile470Thr)
|
rs779269724
|
0.00004
|
|
NM_000780.4(CYP7A1):c.318G>A (p.Ala106=)
|
rs200839929
|
0.00004
|
|
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser)
|
rs778458082
|
0.00004
|
|
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)
|
rs556745324
|
0.00004
|
|
NM_000789.4(ACE):c.1227T>C (p.Arg409=)
|
rs373568007
|
0.00004
|
|
NM_000875.5(IGF1R):c.1485C>T (p.Phe495=)
|
rs886043360
|
0.00004
|
|
NM_000883.4(IMPDH1):c.1623C>T (p.Phe541=)
|
rs749416988
|
0.00004
|
|
NM_001004127.3(ALG11):c.1269G>A (p.Lys423=)
|
rs369694921
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-1997G>A
|
rs781072699
|
0.00004
|
|
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=)
|
rs727504098
|
0.00004
|
|
NM_001005242.3(PKP2):c.1464C>T (p.Ile488=)
|
rs145387575
|
0.00004
|
|
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)
|
rs144018320
|
0.00004
|
|
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=)
|
rs147995773
|
0.00004
|
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
|
NM_001005242.3(PKP2):c.953A>C (p.His318Pro)
|
rs181098323
|
0.00004
|
|
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=)
|
rs200968756
|
0.00004
|
|
NM_001005498.4(RHBDF2):c.335G>A (p.Arg112His)
|
rs546484250
|
0.00004
|
|
NM_001008216.2(GALE):c.874-9G>A
|
rs764448821
|
0.00004
|
|
NM_001008537.3(NEXMIF):c.2130G>A (p.Lys710=)
|
rs749479992
|
0.00004
|
|
NM_001012339.3(DNAJC21):c.414A>G (p.Gly138=)
|
rs888250694
|
0.00004
|
|
NM_001025295.3(IFITM5):c.21C>T (p.Arg7=)
|
rs755699416
|
0.00004
|
|
NM_001025603.2(RFX5):c.117-13C>T
|
rs371670135
|
0.00004
|
|
NM_001032382.2(PQBP1):c.541C>T (p.Arg181Trp)
|
rs782792216
|
0.00004
|
|
NM_001033044.4(GLUL):c.930C>T (p.Asn310=)
|
rs369280031
|
0.00004
|
|
NM_001033855.3(DCLRE1C):c.1800T>C (p.Asp600=)
|
rs199619187
|
0.00004
|
|
NM_001033855.3(DCLRE1C):c.261C>A (p.Ile87=)
|
rs191086777
|
0.00004
|
|
NM_001034853.2(RPGR):c.1170T>G (p.Phe390Leu)
|
rs765979499
|
0.00004
|
|
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=)
|
rs754976419
|
0.00004
|
|
NM_001035.3(RYR2):c.10495-14A>G
|
rs727505057
|
0.00004
|
|
NM_001035.3(RYR2):c.11557+15G>A
|
rs761490797
|
0.00004
|
|
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr)
|
rs397516550
|
0.00004
|
|
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=)
|
rs774657844
|
0.00004
|
|
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)
|
rs201669522
|
0.00004
|
|
NM_001037333.3(CYFIP2):c.3382C>T (p.Arg1128Trp)
|
rs376484231
|
0.00004
|
|
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu)
|
rs751657066
|
0.00004
|
|
NM_001040716.2(PC):c.2899-9G>A
|
rs372755874
|
0.00004
|
|
NM_001042413.2(GLIS3):c.1779C>T (p.Gly593=)
|
rs370278575
|
0.00004
|
|
NM_001042472.3(ABHD12):c.540C>T (p.Thr180=)
|
rs777592249
|
0.00004
|
|
NM_001042492.3(NF1):c.3358G>C (p.Val1120Leu)
|
rs200594167
|
0.00004
|
|
NM_001042492.3(NF1):c.7528A>G (p.Thr2510Ala)
|
rs145794301
|
0.00004
|
|
NM_001042492.3(NF1):c.8490C>A (p.Phe2830Leu)
|
rs760550772
|
0.00004
|
|
NM_001048166.1(STIL):c.1227T>C (p.Ser409=)
|
rs200532713
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.924C>T (p.Gly308=)
|
rs188108571
|
0.00004
|
|
NM_001080414.4(CCDC88C):c.708C>T (p.Ser236=)
|
rs745338278
|
0.00004
|
|
NM_001082971.2(DDC):c.1044T>C (p.His348=)
|
rs527805112
|
0.00004
|
|
NM_001082971.2(DDC):c.316-6C>T
|
rs377474761
|
0.00004
|
|
NM_001082971.2(DDC):c.822C>T (p.Tyr274=)
|
rs746729797
|
0.00004
|
|
NM_001083961.2(WDR62):c.1977C>T (p.Asn659=)
|
rs79238222
|
0.00004
|
|
NM_001083961.2(WDR62):c.3733C>A (p.Leu1245Met)
|
rs763947043
|
0.00004
|
|
NM_001083961.2(WDR62):c.4329G>A (p.Gln1443=)
|
rs771131709
|
0.00004
|
|
NM_001085487.3(MYSM1):c.2296C>T (p.Arg766Cys)
|
rs141454457
|
0.00004
|
|
NM_001101362.3(KBTBD13):c.1184C>T (p.Thr395Met)
|
rs758995387
|
0.00004
|
|
NM_001101362.3(KBTBD13):c.1191G>C (p.Val397=)
|
rs376673920
|
0.00004
|
|
NM_001105206.3(LAMA4):c.967-16A>G
|
rs80110492
|
0.00004
|
|
NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met)
|
rs782555986
|
0.00004
|
|
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)
|
rs61753016
|
0.00004
|
|
NM_001114753.3(ENG):c.1389C>T (p.Ala463=)
|
rs200168633
|
0.00004
|
|
NM_001114753.3(ENG):c.596G>A (p.Arg199His)
|
rs548424658
|
0.00004
|
|
NM_001114753.3(ENG):c.9C>T (p.Arg3=)
|
rs752431673
|
0.00004
|
|
NM_001122659.3(EDNRB):c.99T>C (p.Pro33=)
|
rs1050929
|
0.00004
|
|
NM_001122681.2(SH3BP2):c.1351-13C>T
|
rs367963191
|
0.00004
|
|
NM_001126108.2(SLC12A3):c.1956C>A (p.Pro652=)
|
rs200091201
|
0.00004
|
|
NM_001126121.2(SLC25A19):c.564C>T (p.Tyr188=)
|
rs145654111
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)
|
rs745775887
|
0.00004
|
|
NM_001128840.3(CACNA1D):c.2069A>G (p.Asn690Ser)
|
rs149676780
|
0.00004
|
|
NM_001128840.3(CACNA1D):c.5439C>T (p.Ser1813=)
|
rs761519681
|
0.00004
|
|
NM_001128840.3(CACNA1D):c.6217C>T (p.Arg2073Cys)
|
rs140215004
|
0.00004
|
|
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=)
|
rs769254776
|
0.00004
|
|
NM_001130987.2(DYSF):c.1807-10C>T
|
rs749361351
|
0.00004
|
|
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=)
|
rs199565036
|
0.00004
|
|
NM_001130987.2(DYSF):c.3228+7C>T
|
rs534331009
|
0.00004
|
|
NM_001130987.2(DYSF):c.4059+7C>T
|
rs562567295
|
0.00004
|
|
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys)
|
rs752946123
|
0.00004
|
|
NM_001134363.3(RBM20):c.1244G>A (p.Ser415Asn)
|
rs748133931
|
0.00004
|
|
NM_001134363.3(RBM20):c.1553G>A (p.Arg518His)
|
rs762725902
|
0.00004
|
|
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val)
|
rs754805893
|
0.00004
|
|
NM_001134363.3(RBM20):c.2200C>T (p.Arg734Trp)
|
rs199972578
|
0.00004
|
|
NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly)
|
rs561904103
|
0.00004
|
|
NM_001134363.3(RBM20):c.2991G>A (p.Val997=)
|
rs756276591
|
0.00004
|
|
NM_001134363.3(RBM20):c.305G>A (p.Arg102Gln)
|
rs886046699
|
0.00004
|
|
NM_001134363.3(RBM20):c.3266C>G (p.Pro1089Arg)
|
rs772708424
|
0.00004
|
|
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe)
|
rs769531546
|
0.00004
|
|
NM_001134363.3(RBM20):c.3649G>A (p.Gly1217Arg)
|
rs867232627
|
0.00004
|
|
NM_001134363.3(RBM20):c.613C>A (p.Gln205Lys)
|
rs779777625
|
0.00004
|
|
NM_001134363.3(RBM20):c.99G>C (p.Pro33=)
|
rs921066961
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.1119A>G (p.Glu373=)
|
rs368406915
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.3363T>G (p.Asp1121Glu)
|
rs764292783
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.3787G>A (p.Gly1263Arg)
|
rs142113044
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.3884T>C (p.Ile1295Thr)
|
rs757351084
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln)
|
rs370754278
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)
|
rs587780353
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.747C>T (p.Thr249=)
|
rs774169125
|
0.00004
|
|
NM_001142800.2(EYS):c.1470C>T (p.Gly490=)
|
rs778161042
|
0.00004
|
|
NM_001142800.2(EYS):c.3164+7A>T
|
rs963551759
|
0.00004
|
|
NM_001145358.2(SIN3A):c.618C>A (p.Gly206=)
|
rs372626992
|
0.00004
|
|
NM_001145358.2(SIN3A):c.621G>A (p.Gln207=)
|
rs372433846
|
0.00004
|
|
NM_001160372.4(TRAPPC9):c.2037G>A (p.Pro679=)
|
rs371880751
|
0.00004
|
|
NM_001160372.4(TRAPPC9):c.2704C>T (p.Arg902Trp)
|
rs370626310
|
0.00004
|
|
NM_001160372.4(TRAPPC9):c.2793C>T (p.His931=)
|
rs886062722
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=)
|
rs202161397
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.1407C>T (p.Ser469=)
|
rs370862113
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=)
|
rs78544619
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=)
|
rs367642241
|
0.00004
|
|
NM_001164508.2(NEB):c.10092C>T (p.Pro3364=)
|
rs768708852
|
0.00004
|
|
NM_001164508.2(NEB):c.1015G>A (p.Ala339Thr)
|
rs762993577
|
0.00004
|
|
NM_001164508.2(NEB):c.11851G>A (p.Val3951Met)
|
rs759624618
|
0.00004
|
|
NM_001164508.2(NEB):c.17183A>T (p.Asp5728Val)
|
rs756098317
|
0.00004
|
|
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=)
|
rs555516831
|
0.00004
|
|
NM_001164508.2(NEB):c.18115G>A (p.Asp6039Asn)
|
rs377076154
|
0.00004
|
|
NM_001164508.2(NEB):c.18885G>A (p.Leu6295=)
|
rs141925015
|
0.00004
|
|
NM_001164508.2(NEB):c.19110T>C (p.Tyr6370=)
|
rs771969348
|
0.00004
|
|
NM_001164508.2(NEB):c.19214A>G (p.Tyr6405Cys)
|
rs368240939
|
0.00004
|
|
NM_001164508.2(NEB):c.1953G>A (p.Glu651=)
|
rs367997645
|
0.00004
|
|
NM_001164508.2(NEB):c.19722A>G (p.Leu6574=)
|
rs141526973
|
0.00004
|
|
NM_001164508.2(NEB):c.19989A>T (p.Arg6663Ser)
|
rs755153044
|
0.00004
|
|
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)
|
rs533233215
|
0.00004
|
|
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln)
|
rs781250495
|
0.00004
|
|
NM_001164508.2(NEB):c.20260G>A (p.Glu6754Lys)
|
rs776334631
|
0.00004
|
|
NM_001164508.2(NEB):c.20417T>C (p.Leu6806Pro)
|
rs767873861
|
0.00004
|
|
NM_001164508.2(NEB):c.20834C>T (p.Pro6945Leu)
|
rs376157878
|
0.00004
|
|
NM_001164508.2(NEB):c.22183G>A (p.Val7395Ile)
|
rs1396168176
|
0.00004
|
|
NM_001164508.2(NEB):c.22349C>T (p.Thr7450Ile)
|
rs575499014
|
0.00004
|
|
NM_001164508.2(NEB):c.2250G>A (p.Thr750=)
|
rs753965951
|
0.00004
|
|
NM_001164508.2(NEB):c.23382G>A (p.Ser7794=)
|
rs770713773
|
0.00004
|
|
NM_001164508.2(NEB):c.23525G>A (p.Arg7842His)
|
rs369514998
|
0.00004
|
|
NM_001164508.2(NEB):c.23710C>T (p.Arg7904Cys)
|
rs758166991
|
0.00004
|
|
NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn)
|
rs760905651
|
0.00004
|
|
NM_001164508.2(NEB):c.23928G>A (p.Ser7976=)
|
rs558657964
|
0.00004
|
|
NM_001164508.2(NEB):c.24671C>T (p.Ser8224Leu)
|
rs746031384
|
0.00004
|
|
NM_001164508.2(NEB):c.25009G>A (p.Val8337Ile)
|
rs377336846
|
0.00004
|
|
NM_001164508.2(NEB):c.25073G>A (p.Arg8358His)
|
rs796797375
|
0.00004
|
|
NM_001164508.2(NEB):c.25130G>A (p.Arg8377Gln)
|
rs369174368
|
0.00004
|
|
NM_001164508.2(NEB):c.25239A>G (p.Glu8413=)
|
rs576696191
|
0.00004
|
|
NM_001164508.2(NEB):c.25415G>A (p.Arg8472His)
|
rs368346105
|
0.00004
|
|
NM_001164508.2(NEB):c.3425A>T (p.Asp1142Val)
|
rs370976402
|
0.00004
|
|
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile)
|
rs767493706
|
0.00004
|
|
NM_001164508.2(NEB):c.4072T>C (p.Tyr1358His)
|
rs377054979
|
0.00004
|
|
NM_001164508.2(NEB):c.4119C>G (p.Asn1373Lys)
|
rs377653217
|
0.00004
|
|
NM_001164508.2(NEB):c.4271C>T (p.Thr1424Met)
|
rs372694084
|
0.00004
|
|
NM_001164508.2(NEB):c.4315G>A (p.Glu1439Lys)
|
rs771779312
|
0.00004
|
|
NM_001164508.2(NEB):c.4414T>C (p.Tyr1472His)
|
rs748121656
|
0.00004
|
|
NM_001164508.2(NEB):c.47A>T (p.Glu16Val)
|
rs748679499
|
0.00004
|
|
NM_001164508.2(NEB):c.491C>T (p.Ser164Leu)
|
rs747225286
|
0.00004
|
|
NM_001164508.2(NEB):c.5174T>C (p.Phe1725Ser)
|
rs368270996
|
0.00004
|
|
NM_001164508.2(NEB):c.5429C>T (p.Ala1810Val)
|
rs752744680
|
0.00004
|
|
NM_001164508.2(NEB):c.5452-4A>G
|
rs376623225
|
0.00004
|
|
NM_001164508.2(NEB):c.5849A>G (p.Lys1950Arg)
|
rs758655350
|
0.00004
|
|
NM_001164508.2(NEB):c.6011T>C (p.Val2004Ala)
|
rs764064217
|
0.00004
|
|
NM_001164508.2(NEB):c.6513T>C (p.Asp2171=)
|
rs376535906
|
0.00004
|
|
NM_001164508.2(NEB):c.6916-20T>C
|
rs780933765
|
0.00004
|
|
NM_001164508.2(NEB):c.7677C>T (p.Leu2559=)
|
rs371565168
|
0.00004
|
|
NM_001164508.2(NEB):c.7758C>T (p.Asp2586=)
|
rs559846137
|
0.00004
|
|
NM_001164508.2(NEB):c.8834T>C (p.Val2945Ala)
|
rs748120166
|
0.00004
|
|
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg)
|
rs760903716
|
0.00004
|
|
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His)
|
rs184524479
|
0.00004
|
|
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)
|
rs372425457
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.864G>A (p.Pro288=)
|
rs369082833
|
0.00004
|
|
NM_001170629.2(CHD8):c.5608G>A (p.Asp1870Asn)
|
rs376095447
|
0.00004
|
|
NM_001171.6(ABCC6):c.3751C>T (p.Pro1251Ser)
|
rs148326870
|
0.00004
|
|
NM_001177316.2(SLC34A3):c.1164A>G (p.Ala388=)
|
rs762986714
|
0.00004
|
|
NM_001177316.2(SLC34A3):c.882G>A (p.Pro294=)
|
rs370122685
|
0.00004
|
|
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=)
|
rs200394848
|
0.00004
|
|
NM_001182.5(ALDH7A1):c.720C>T (p.Asp240=)
|
rs757704473
|
0.00004
|
|
NM_001184.4(ATR):c.7471G>A (p.Val2491Ile)
|
rs556313656
|
0.00004
|
|
NM_001193315.2(VIPAS39):c.632-9G>A
|
rs370850533
|
0.00004
|
|
NM_001199397.3(NEK1):c.3135T>C (p.Ser1045=)
|
rs370713361
|
0.00004
|
|
NM_001199397.3(NEK1):c.3622G>A (p.Asp1208Asn)
|
rs35503975
|
0.00004
|
|
NM_001199397.3(NEK1):c.3715-6G>C
|
rs771507979
|
0.00004
|
|
NM_001203.3(BMPR1B):c.43A>G (p.Lys15Glu)
|
rs1346115955
|
0.00004
|
|
NM_001242957.3(MAK):c.1128C>T (p.Val376=)
|
rs768120333
|
0.00004
|
|
NM_001242957.3(MAK):c.867A>G (p.Val289=)
|
rs147570352
|
0.00004
|
|
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=)
|
rs779556052
|
0.00004
|
|
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=)
|
rs766713747
|
0.00004
|
|
NM_001243279.3(ACSF3):c.666+9C>T
|
rs767663198
|
0.00004
|
|
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=)
|
rs377354800
|
0.00004
|
|
NM_001243279.3(ACSF3):c.936C>T (p.His312=)
|
rs202119269
|
0.00004
|
|
NM_001244710.2(GFPT1):c.327C>T (p.Pro109=)
|
rs537066687
|
0.00004
|
|
NM_001277115.2(DNAH11):c.11267G>A (p.Arg3756His)
|
rs554657293
|
0.00004
|
|
NM_001277115.2(DNAH11):c.1700C>G (p.Ala567Gly)
|
rs545970834
|
0.00004
|
|
NM_001277115.2(DNAH11):c.2156A>G (p.Asn719Ser)
|
rs551038953
|
0.00004
|
|
NM_001277115.2(DNAH11):c.2547A>G (p.Leu849=)
|
rs535761458
|
0.00004
|
|
NM_001277115.2(DNAH11):c.4884C>G (p.Phe1628Leu)
|
rs762090852
|
0.00004
|
|
NM_001277115.2(DNAH11):c.6683+16_6683+18del
|
rs750498878
|
0.00004
|
|
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr)
|
rs782752037
|
0.00004
|
|
NM_001286577.2(C2CD3):c.3929T>C (p.Ile1310Thr)
|
rs757220593
|
0.00004
|
|
NM_001286577.2(C2CD3):c.5612T>G (p.Leu1871Arg)
|
rs766845407
|
0.00004
|
|
NM_001287.6(CLCN7):c.1226G>A (p.Arg409Gln)
|
rs780959736
|
0.00004
|
|
NM_001288705.3(CSF1R):c.924C>G (p.Asn308Lys)
|
rs747597752
|
0.00004
|
|
NM_001297.5(CNGB1):c.291-5C>T
|
rs372308762
|
0.00004
|
|
NM_001322934.2(NFKB2):c.1938G>A (p.Glu646=)
|
rs563687760
|
0.00004
|
|
NM_001330078.2(NRXN1):c.1857A>G (p.Pro619=)
|
rs1324701043
|
0.00004
|
|
NM_001330078.2(NRXN1):c.3384T>C (p.Phe1128=)
|
rs751894635
|
0.00004
|
|
NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=)
|
rs587781101
|
0.00004
|
|
NM_001330078.2(NRXN1):c.492C>T (p.Ala164=)
|
rs201180707
|
0.00004
|
|
NM_001330311.2(DVL1):c.1282G>C (p.Gly428Arg)
|
rs201616962
|
0.00004
|
|
NM_001349253.2(SCN11A):c.1986A>G (p.Gln662=)
|
rs746550786
|
0.00004
|
|
NM_001349338.3(FOXP1):c.1359G>A (p.Ala453=)
|
rs766683691
|
0.00004
|
|
NM_001349338.3(FOXP1):c.1383C>T (p.Asn461=)
|
rs372403441
|
0.00004
|
|
NM_001352514.2(HLCS):c.494-9A>G
|
rs376397597
|
0.00004
|
|
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
|
rs200950813
|
0.00004
|
|
NM_001352514.2(HLCS):c.918A>G (p.Gly306=)
|
rs767988985
|
0.00004
|
|
NM_001358530.2(MOCS1):c.583+7G>A
|
rs150131853
|
0.00004
|
|
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met)
|
rs567600444
|
0.00004
|
|
NM_001363.5(DKC1):c.55C>T (p.Arg19Trp)
|
rs782010351
|
0.00004
|
|
NM_001363711.2(DUOX2):c.4046C>G (p.Ser1349Cys)
|
rs768030115
|
0.00004
|
|
NM_001365999.1(SZT2):c.10156-13G>A
|
rs554300793
|
0.00004
|
|
NM_001365999.1(SZT2):c.1272A>G (p.Gln424=)
|
rs780157180
|
0.00004
|
|
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His)
|
rs371193436
|
0.00004
|
|
NM_001367624.2(ZNF469):c.5967C>T (p.Ala1989=)
|
rs955767732
|
0.00004
|
|
NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp)
|
rs369792621
|
0.00004
|
|
NM_001369.3(DNAH5):c.10378G>A (p.Val3460Met)
|
rs200012281
|
0.00004
|
|
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu)
|
rs758395320
|
0.00004
|
|
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile)
|
rs746662023
|
0.00004
|
|
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met)
|
rs757109346
|
0.00004
|
|
NM_001369.3(DNAH5):c.12558C>T (p.Tyr4186=)
|
rs748817131
|
0.00004
|
|
NM_001369.3(DNAH5):c.13502G>A (p.Arg4501Gln)
|
rs781267941
|
0.00004
|
|
NM_001369.3(DNAH5):c.1982G>A (p.Arg661His)
|
rs185855852
|
0.00004
|
|
NM_001369.3(DNAH5):c.2462A>G (p.Asn821Ser)
|
rs750670743
|
0.00004
|
|
NM_001369.3(DNAH5):c.4139G>A (p.Arg1380Gln)
|
rs779980906
|
0.00004
|
|
NM_001369.3(DNAH5):c.4995C>T (p.Ile1665=)
|
rs748438142
|
0.00004
|
|
NM_001369.3(DNAH5):c.506C>T (p.Ser169Leu)
|
rs749078502
|
0.00004
|
|
NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val)
|
rs752077073
|
0.00004
|
|
NM_001369.3(DNAH5):c.6551T>C (p.Val2184Ala)
|
rs200805455
|
0.00004
|
|
NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val)
|
rs529080443
|
0.00004
|
|
NM_001369.3(DNAH5):c.7649T>A (p.Leu2550Gln)
|
rs371695477
|
0.00004
|
|
NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala)
|
rs527914224
|
0.00004
|
|
NM_001369.3(DNAH5):c.8726G>A (p.Arg2909His)
|
rs756069405
|
0.00004
|
|
NM_001369.3(DNAH5):c.9034A>T (p.Ile3012Phe)
|
rs368476008
|
0.00004
|
|
NM_001369.3(DNAH5):c.9052A>T (p.Ile3018Phe)
|
rs375063617
|
0.00004
|
|
NM_001369.3(DNAH5):c.9218A>G (p.Tyr3073Cys)
|
rs138505566
|
0.00004
|
|
NM_001369.3(DNAH5):c.983G>A (p.Arg328Gln)
|
rs376626613
|
0.00004
|
|
NM_001369268.1(ACAN):c.1527G>A (p.Ser509=)
|
rs371049725
|
0.00004
|
|
NM_001369369.1(FOXN1):c.1706C>A (p.Ser569Tyr)
|
rs149225004
|
0.00004
|
|
NM_001369369.1(FOXN1):c.987C>T (p.Phe329=)
|
rs184956155
|
0.00004
|
|
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp)
|
rs149383809
|
0.00004
|
|
NM_001370259.2(MEN1):c.941G>A (p.Arg314Gln)
|
rs771645621
|
0.00004
|
|
NM_001370466.1(NOD2):c.1894G>A (p.Val632Met)
|
rs570167996
|
0.00004
|
|
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=)
|
rs142559533
|
0.00004
|
|
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)
|
rs774052068
|
0.00004
|
|
NM_001371623.1(TCOF1):c.2575C>G (p.Gln859Glu)
|
rs201043592
|
0.00004
|
|
NM_001371928.1(AHDC1):c.2182C>T (p.Arg728Trp)
|
rs201595662
|
0.00004
|
|
NM_001371986.1(UNC80):c.9179T>C (p.Ile3060Thr)
|
rs1001497433
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.1659C>T (p.Pro553=)
|
rs761202112
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.1754A>G (p.Glu585Gly)
|
rs35238397
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.2100C>T (p.Leu700=)
|
rs747771646
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.3201C>T (p.Ser1067=)
|
rs777459332
|
0.00004
|
|
NM_001374828.1(ARID1B):c.4829C>T (p.Ala1610Val)
|
rs370838091
|
0.00004
|
|
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=)
|
rs200903643
|
0.00004
|
|
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
|
rs150118849
|
0.00004
|
|
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=)
|
rs536121075
|
0.00004
|
|
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
|
rs912429154
|
0.00004
|
|
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
|
rs375687099
|
0.00004
|
|
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=)
|
rs375547282
|
0.00004
|
|
NM_001377.3(DYNC2H1):c.11929A>C (p.Ile3977Leu)
|
rs757571550
|
0.00004
|
|
NM_001377265.1(MAPT):c.601C>T (p.Pro201Ser)
|
rs776821664
|
0.00004
|
|
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr)
|
rs748142226
|
0.00004
|
|
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys)
|
rs773873513
|
0.00004
|
|
NM_001378452.1(ITPR1):c.2107G>A (p.Asp703Asn)
|
rs185464679
|
0.00004
|
|
NM_001378452.1(ITPR1):c.4068C>T (p.Asn1356=)
|
rs542486327
|
0.00004
|
|
NM_001378454.1(ALMS1):c.451-5T>G
|
rs774098604
|
0.00004
|
|
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=)
|
rs759983484
|
0.00004
|
|
NM_001378964.1(CDON):c.2567A>G (p.Asn856Ser)
|
rs768131084
|
0.00004
|
|
NM_001379081.2(FREM1):c.3932T>C (p.Ile1311Thr)
|
rs182527895
|
0.00004
|
|
NM_001384140.1(PCDH15):c.3717+10T>C
|
rs376158566
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.3061+8G>T
|
rs764128579
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.4375+7G>A
|
rs763847381
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys)
|
rs561122654
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.8410C>T (p.Pro2804Ser)
|
rs377107065
|
0.00004
|
|
NM_001386393.1(PANK2):c.18G>A (p.Gly6=)
|
rs750766653
|
0.00004
|
|
NM_001395413.1(POR):c.1389+15T>A
|
rs782664345
|
0.00004
|
|
NM_001395413.1(POR):c.1661-4G>A
|
rs372733766
|
0.00004
|
|
NM_001395413.1(POR):c.938+10G>A
|
rs781980999
|
0.00004
|
|
NM_001457.4(FLNB):c.1135A>G (p.Ile379Val)
|
rs374118649
|
0.00004
|
|
NM_001457.4(FLNB):c.1451G>C (p.Ser484Thr)
|
rs199589693
|
0.00004
|
|
NM_001457.4(FLNB):c.1692C>T (p.Val564=)
|
rs749242473
|
0.00004
|
|
NM_001457.4(FLNB):c.2575+12C>T
|
rs750560502
|
0.00004
|
|
NM_001457.4(FLNB):c.2935G>A (p.Val979Met)
|
rs376511120
|
0.00004
|
|
NM_001457.4(FLNB):c.3661A>G (p.Lys1221Glu)
|
rs537630384
|
0.00004
|
|
NM_001457.4(FLNB):c.3767G>A (p.Arg1256Gln)
|
rs148506076
|
0.00004
|
|
NM_001457.4(FLNB):c.3784G>A (p.Gly1262Arg)
|
rs139932035
|
0.00004
|
|
NM_001457.4(FLNB):c.3898+7C>T
|
rs369277252
|
0.00004
|
|
NM_001457.4(FLNB):c.5327T>C (p.Ile1776Thr)
|
rs1343990349
|
0.00004
|
|
NM_001457.4(FLNB):c.5917G>A (p.Glu1973Lys)
|
rs368965386
|
0.00004
|
|
NM_001457.4(FLNB):c.6003C>T (p.Asp2001=)
|
rs184065600
|
0.00004
|
|
NM_001457.4(FLNB):c.6531C>T (p.Thr2177=)
|
rs778562859
|
0.00004
|
|
NM_001458.5(FLNC):c.1261C>T (p.Arg421Trp)
|
rs759075520
|
0.00004
|
|
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr)
|
rs200653747
|
0.00004
|
|
NM_001458.5(FLNC):c.2737G>A (p.Glu913Lys)
|
rs774707336
|
0.00004
|
|
NM_001458.5(FLNC):c.3133C>A (p.His1045Asn)
|
rs201863231
|
0.00004
|
|
NM_001458.5(FLNC):c.3722G>A (p.Arg1241His)
|
rs370520806
|
0.00004
|
|
NM_001458.5(FLNC):c.7229G>A (p.Arg2410His)
|
rs558239439
|
0.00004
|
|
NM_001543.5(NDST1):c.600C>T (p.Ile200=)
|
rs762510239
|
0.00004
|
|
NM_001558.4(IL10RA):c.1539G>A (p.Thr513=)
|
rs372503247
|
0.00004
|
|
NM_001558.4(IL10RA):c.67+15C>T
|
rs886047708
|
0.00004
|
|
NM_001613.4(ACTA2):c.420G>A (p.Ala140=)
|
rs762567614
|
0.00004
|
|
NM_001673.5(ASNS):c.1593C>A (p.Asp531Glu)
|
rs201432154
|
0.00004
|
|
NM_001754.4(RUNX1):c.97+4T>G
|
rs754042987
|
0.00004
|
|
NM_001754.5(RUNX1):c.59-12C>G
|
rs202245096
|
0.00004
|
|
NM_001768.7(CD8A):c.188C>G (p.Ala63Gly)
|
rs537395900
|
0.00004
|
|
NM_001793.6(CDH3):c.1011G>C (p.Val337=)
|
rs201726457
|
0.00004
|
|
NM_001822.7(CHN1):c.550-5C>T
|
rs760529847
|
0.00004
|
|
NM_001844.5(COL2A1):c.1018G>A (p.Ala340Thr)
|
rs762355724
|
0.00004
|
|
NM_001844.5(COL2A1):c.2764C>T (p.Pro922Ser)
|
rs769590506
|
0.00004
|
|
NM_001844.5(COL2A1):c.3064G>A (p.Val1022Met)
|
rs199642249
|
0.00004
|
|
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)
|
rs367982631
|
0.00004
|
|
NM_001844.5(COL2A1):c.3842G>A (p.Arg1281His)
|
rs763097721
|
0.00004
|
|
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His)
|
rs754034347
|
0.00004
|
|
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu)
|
rs372750171
|
0.00004
|
|
NM_001845.6(COL4A1):c.3019C>T (p.Pro1007Ser)
|
rs141418421
|
0.00004
|
|
NM_001846.4(COL4A2):c.1513G>A (p.Ala505Thr)
|
rs753867828
|
0.00004
|
|
NM_001846.4(COL4A2):c.2842G>A (p.Glu948Lys)
|
rs199678709
|
0.00004
|
|
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn)
|
rs368641951
|
0.00004
|
|
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu)
|
rs202094480
|
0.00004
|
|
NM_001854.4(COL11A1):c.1408G>C (p.Asp470His)
|
rs752749747
|
0.00004
|
|
NM_001854.4(COL11A1):c.1817C>T (p.Pro606Leu)
|
rs534777436
|
0.00004
|
|
NM_001854.4(COL11A1):c.2389G>A (p.Asp797Asn)
|
rs762668220
|
0.00004
|
|
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys)
|
rs749003514
|
0.00004
|
|
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)
|
rs1283924469
|
0.00004
|
|
NM_001854.4(COL11A1):c.3595C>G (p.Leu1199Val)
|
rs138507620
|
0.00004
|
|
NM_001854.4(COL11A1):c.4377C>T (p.Gly1459=)
|
rs917541931
|
0.00004
|
|
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu)
|
rs558548172
|
0.00004
|
|
NM_001854.4(COL11A1):c.510C>T (p.Ser170=)
|
rs749497678
|
0.00004
|
|
NM_001854.4(COL11A1):c.5144A>T (p.His1715Leu)
|
rs199576799
|
0.00004
|
|
NM_001854.4(COL11A1):c.784G>A (p.Ala262Thr)
|
rs777664906
|
0.00004
|
|
NM_001854.4(COL11A1):c.788C>T (p.Pro263Leu)
|
rs945959591
|
0.00004
|
|
NM_001854.4(COL11A1):c.913G>T (p.Asp305Tyr)
|
rs779346604
|
0.00004
|
|
NM_001875.5(CPS1):c.3757-10A>C
|
rs201251176
|
0.00004
|
|
NM_001875.5(CPS1):c.712-11C>T
|
rs561995236
|
0.00004
|
|
NM_001875.5(CPS1):c.785C>T (p.Ala262Val)
|
rs372217508
|
0.00004
|
|
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser)
|
rs552007692
|
0.00004
|
|
NM_001904.4(CTNNB1):c.2315A>G (p.Asn772Ser)
|
rs138501547
|
0.00004
|
|
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe)
|
rs141405267
|
0.00004
|
|
NM_001943.5(DSG2):c.390C>T (p.Tyr130=)
|
rs369489095
|
0.00004
|
|
NM_001953.5(TYMP):c.647-9C>G
|
rs549324764
|
0.00004
|
|
NM_001999.4(FBN2):c.1078+12A>C
|
rs769211487
|
0.00004
|
|
NM_001999.4(FBN2):c.1968T>C (p.Cys656=)
|
rs750685055
|
0.00004
|
|
NM_002074.5(GNB1):c.867C>T (p.Tyr289=)
|
rs771603036
|
0.00004
|
|
NM_002103.5(GYS1):c.303G>A (p.Val101=)
|
rs1391443496
|
0.00004
|
|
NM_002185.5(IL7R):c.379+8G>A
|
rs111370546
|
0.00004
|
|
NM_002185.5(IL7R):c.800+10T>C
|
rs202114203
|
0.00004
|
|
NM_002187.3(IL12B):c.960C>T (p.Ser320=)
|
rs752964137
|
0.00004
|
|
NM_002234.4(KCNA5):c.1539C>T (p.Pro513=)
|
rs145832242
|
0.00004
|
|
NM_002292.4(LAMB2):c.1391G>A (p.Arg464His)
|
rs188487818
|
0.00004
|
|
NM_002292.4(LAMB2):c.2262G>A (p.Leu754=)
|
rs756931255
|
0.00004
|
|
NM_002292.4(LAMB2):c.4369C>T (p.Arg1457Trp)
|
rs151037751
|
0.00004
|
|
NM_002296.4(LBR):c.851C>T (p.Thr284Met)
|
rs371750924
|
0.00004
|
|
NM_002317.7(LOX):c.1222T>C (p.Tyr408His)
|
rs765126342
|
0.00004
|
|
NM_002435.3(MPI):c.1053+15A>G
|
rs564765063
|
0.00004
|
|
NM_002439.5(MSH3):c.1653+4A>G
|
rs373786812
|
0.00004
|
|
NM_002439.5(MSH3):c.1896A>G (p.Lys632=)
|
rs201737845
|
0.00004
|
|
NM_002439.5(MSH3):c.2085A>G (p.Lys695=)
|
rs777245977
|
0.00004
|
|
NM_002439.5(MSH3):c.3130+4T>G
|
rs764306633
|
0.00004
|
|
NM_002473.6(MYH9):c.2714G>A (p.Arg905His)
|
rs727503289
|
0.00004
|
|
NM_002473.6(MYH9):c.3022C>G (p.Leu1008Val)
|
rs535649291
|
0.00004
|
|
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln)
|
rs137924205
|
0.00004
|
|
NM_002473.6(MYH9):c.5630G>A (p.Arg1877Gln)
|
rs759777823
|
0.00004
|
|
NM_002474.3(MYH11):c.2860-14C>G
|
rs371582357
|
0.00004
|
|
NM_002474.3(MYH11):c.5454G>A (p.Ala1818=)
|
rs374486989
|
0.00004
|
|
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)
|
rs121908974
|
0.00004
|
|
NM_002528.7(NTHL1):c.111A>G (p.Ala37=)
|
rs779229970
|
0.00004
|
|
NM_002528.7(NTHL1):c.354+4G>T
|
rs771353497
|
0.00004
|
|
NM_002529.4(NTRK1):c.1252-6C>G
|
rs776728101
|
0.00004
|
|
NM_002529.4(NTRK1):c.1796G>A (p.Arg599His)
|
rs775718859
|
0.00004
|
|
NM_002529.4(NTRK1):c.288-5C>T
|
rs200860423
|
0.00004
|
|
NM_002529.4(NTRK1):c.818G>A (p.Arg273Gln)
|
rs200305545
|
0.00004
|
|
NM_002691.4(POLD1):c.591C>T (p.Ser197=)
|
rs751594716
|
0.00004
|
|
NM_002700.3(POU4F3):c.405G>A (p.Pro135=)
|
rs145372405
|
0.00004
|
|
NM_002863.5(PYGL):c.1519-15C>A
|
rs372886463
|
0.00004
|
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
|
NM_002890.3(RASA1):c.2608T>C (p.Leu870=)
|
rs372498033
|
0.00004
|
|
NM_002900.3(RBP3):c.1581G>A (p.Pro527=)
|
rs782233629
|
0.00004
|
|
NM_003052.5(SLC34A1):c.303G>A (p.Leu101=)
|
rs200493624
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1017T>C (p.Asn339=)
|
rs758572818
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=)
|
rs200637508
|
0.00004
|
|
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=)
|
rs149451748
|
0.00004
|
|
NM_003119.4(SPG7):c.1266C>T (p.Ser422=)
|
rs767857665
|
0.00004
|
|
NM_003119.4(SPG7):c.184-4T>C
|
rs533778042
|
0.00004
|
|
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr)
|
rs114255772
|
0.00004
|
|
NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val)
|
rs748917509
|
0.00004
|
|
NM_003235.5(TG):c.2762-4C>T
|
rs372101475
|
0.00004
|
|
NM_003238.6(TGFB2):c.1053G>A (p.Pro351=)
|
rs142741166
|
0.00004
|
|
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=)
|
rs768508812
|
0.00004
|
|
NM_003289.4(TPM2):c.374+9G>C
|
rs200730708
|
0.00004
|
|
NM_003331.5(TYK2):c.1254G>A (p.Ser418=)
|
rs201945206
|
0.00004
|
|
NM_003331.5(TYK2):c.1839C>T (p.Ser613=)
|
rs748006603
|
0.00004
|
|
NM_003331.5(TYK2):c.1968C>T (p.Tyr656=)
|
rs764154157
|
0.00004
|
|
NM_003361.4(UMOD):c.392G>A (p.Gly131Asp)
|
rs368943553
|
0.00004
|
|
NM_003465.3(CHIT1):c.26-4C>A
|
rs753899130
|
0.00004
|
|
NM_003477.3(PDHX):c.1239A>T (p.Gly413=)
|
rs148758785
|
0.00004
|
|
NM_003482.4(KMT2D):c.15499A>G (p.Ser5167Gly)
|
rs752976776
|
0.00004
|
|
NM_003482.4(KMT2D):c.16412+13G>A
|
rs587783701
|
0.00004
|
|
NM_003491.4(NAA10):c.577G>C (p.Ala193Pro)
|
rs782413408
|
0.00004
|
|
NM_003659.4(AGPS):c.1335C>T (p.Asp445=)
|
rs200039061
|
0.00004
|
|
NM_003680.4(YARS1):c.685-11A>G
|
rs751943571
|
0.00004
|
|
NM_003722.5(TP63):c.688G>C (p.Val230Leu)
|
rs201466089
|
0.00004
|
|
NM_003742.4(ABCB11):c.711G>A (p.Arg237=)
|
rs765070028
|
0.00004
|
|
NM_003839.4(TNFRSF11A):c.1515G>A (p.Ala505=)
|
rs374310569
|
0.00004
|
|
NM_003846.3(PEX11B):c.510T>G (p.Thr170=)
|
rs782275834
|
0.00004
|
|
NM_003850.3(SUCLA2):c.1320T>C (p.Val440=)
|
rs140383237
|
0.00004
|
|
NM_003859.3(DPM1):c.570C>T (p.Tyr190=)
|
rs754109868
|
0.00004
|
|
NM_003977.4(AIP):c.692C>T (p.Thr231Met)
|
rs532170807
|
0.00004
|
|
NM_004064.5(CDKN1B):c.216C>T (p.Gly72=)
|
rs776643344
|
0.00004
|
|
NM_004076.5(CRYBB3):c.213C>T (p.Ser71=)
|
rs201863246
|
0.00004
|
|
NM_004168.4(SDHA):c.739A>G (p.Ile247Val)
|
rs571292356
|
0.00004
|
|
NM_004183.4(BEST1):c.1169T>C (p.Ile390Thr)
|
rs375618932
|
0.00004
|
|
NM_004208.4(AIFM1):c.141A>C (p.Glu47Asp)
|
rs369523358
|
0.00004
|
|
NM_004208.4(AIFM1):c.1643C>T (p.Pro548Leu)
|
rs750418813
|
0.00004
|
|
NM_004208.4(AIFM1):c.556A>G (p.Asn186Asp)
|
rs765298573
|
0.00004
|
|
NM_004239.4(TRIP11):c.2829T>C (p.Phe943=)
|
rs758437737
|
0.00004
|
|
NM_004239.4(TRIP11):c.438C>T (p.Phe146=)
|
rs371786500
|
0.00004
|
|
NM_004268.5(MED17):c.1449C>G (p.Gly483=)
|
rs61754525
|
0.00004
|
|
NM_004273.5(CHST3):c.540C>T (p.Asn180=)
|
rs748812857
|
0.00004
|
|
NM_004281.4(BAG3):c.652C>T (p.Arg218Trp)
|
rs397514506
|
0.00004
|
|
NM_004281.4(BAG3):c.926G>A (p.Arg309Gln)
|
rs774137001
|
0.00004
|
|
NM_004304.5(ALK):c.1044C>T (p.Ala348=)
|
rs200293454
|
0.00004
|
|
NM_004320.6(ATP2A1):c.220-11C>T
|
rs369161791
|
0.00004
|
|
NM_004320.6(ATP2A1):c.765G>A (p.Glu255=)
|
rs200531611
|
0.00004
|
|
NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys)
|
rs587781332
|
0.00004
|
|
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)
|
rs587782578
|
0.00004
|
|
NM_004360.5(CDH1):c.1392C>T (p.Val464=)
|
rs373811706
|
0.00004
|
|
NM_004360.5(CDH1):c.1865A>G (p.Asn622Ser)
|
rs147925149
|
0.00004
|
|
NM_004360.5(CDH1):c.2020A>T (p.Asn674Tyr)
|
rs201637081
|
0.00004
|
|
NM_004360.5(CDH1):c.213C>T (p.Leu71=)
|
rs376667778
|
0.00004
|
|
NM_004360.5(CDH1):c.2246G>A (p.Arg749Gln)
|
rs530717933
|
0.00004
|
|
NM_004360.5(CDH1):c.2280C>T (p.Gly760=)
|
rs768547540
|
0.00004
|
|
NM_004360.5(CDH1):c.2336G>A (p.Arg779Gln)
|
rs587781311
|
0.00004
|
|
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln)
|
rs587782549
|
0.00004
|
|
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)
|
rs587781312
|
0.00004
|
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
|
NM_004360.5(CDH1):c.377C>T (p.Pro126Leu)
|
rs746703615
|
0.00004
|
|
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His)
|
rs575412915
|
0.00004
|
|
NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met)
|
rs572007088
|
0.00004
|
|
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp)
|
rs201973949
|
0.00004
|
|
NM_004370.6(COL12A1):c.794G>A (p.Arg265His)
|
rs778155362
|
0.00004
|
|
NM_004370.6(COL12A1):c.856C>G (p.Gln286Glu)
|
rs369360559
|
0.00004
|
|
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser)
|
rs746453262
|
0.00004
|
|
NM_004380.3(CREBBP):c.423T>G (p.Ser141=)
|
rs760605470
|
0.00004
|
|
NM_004415.4(DSP):c.137G>A (p.Gly46Asp)
|
rs140403872
|
0.00004
|
|
NM_004415.4(DSP):c.1469G>A (p.Arg490His)
|
rs747815091
|
0.00004
|
|
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys)
|
rs778350289
|
0.00004
|
|
NM_004415.4(DSP):c.2622C>G (p.Ile874Met)
|
rs751067479
|
0.00004
|
|
NM_004415.4(DSP):c.264C>T (p.Ile88=)
|
rs727502997
|
0.00004
|
|
NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn)
|
rs765645957
|
0.00004
|
|
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg)
|
rs746482538
|
0.00004
|
|
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)
|
rs775594375
|
0.00004
|
|
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln)
|
rs748109826
|
0.00004
|
|
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln)
|
rs727505037
|
0.00004
|
|
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln)
|
rs768577891
|
0.00004
|
|
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn)
|
rs780224658
|
0.00004
|
|
NM_004415.4(DSP):c.5795G>A (p.Arg1932His)
|
rs770522444
|
0.00004
|
|
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His)
|
rs767259019
|
0.00004
|
|
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe)
|
rs549451471
|
0.00004
|
|
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)
|
rs537588390
|
0.00004
|
|
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)
|
rs753033333
|
0.00004
|
|
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu)
|
rs764514210
|
0.00004
|
|
NM_004453.4(ETFDH):c.488-12A>C
|
rs180889150
|
0.00004
|
|
NM_004482.4(GALNT3):c.1392+7T>G
|
rs779970449
|
0.00004
|
|
NM_004525.3(LRP2):c.10704G>A (p.Pro3568=)
|
rs756473581
|
0.00004
|
|
NM_004525.3(LRP2):c.2813G>A (p.Arg938Gln)
|
rs372927481
|
0.00004
|
|
NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=)
|
rs758280185
|
0.00004
|
|
NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser)
|
rs201050937
|
0.00004
|
|
NM_004629.2(FANCG):c.366G>C (p.Trp122Cys)
|
rs546023787
|
0.00004
|
|
NM_004646.4(NPHS1):c.609-10C>T
|
rs763508503
|
0.00004
|
|
NM_004817.4(TJP2):c.1629G>A (p.Ser543=)
|
rs771239031
|
0.00004
|
|
NM_004817.4(TJP2):c.848G>A (p.Arg283Gln)
|
rs748102718
|
0.00004
|
|
NM_004820.5(CYP7B1):c.1476G>A (p.Gln492=)
|
rs372800597
|
0.00004
|
|
NM_004820.5(CYP7B1):c.850+18A>T
|
rs374380529
|
0.00004
|
|
NM_004836.7(EIF2AK3):c.35G>C (p.Arg12Pro)
|
rs756618692
|
0.00004
|
|
NM_004924.6(ACTN4):c.1443-4G>A
|
rs191532828
|
0.00004
|
|
NM_004937.3(CTNS):c.852+8C>T
|
rs780856527
|
0.00004
|
|
NM_004946.3(DOCK2):c.1384-4T>C
|
rs1295678117
|
0.00004
|
|
NM_004946.3(DOCK2):c.44-9G>A
|
rs778542070
|
0.00004
|
|
NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp)
|
rs779379680
|
0.00004
|
|
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser)
|
rs764612223
|
0.00004
|
|
NM_005045.4(RELN):c.1649G>T (p.Arg550Met)
|
rs773589573
|
0.00004
|
|
NM_005045.4(RELN):c.6169C>G (p.Leu2057Val)
|
rs764185528
|
0.00004
|
|
NM_005045.4(RELN):c.7339C>G (p.Pro2447Ala)
|
rs371476408
|
0.00004
|
|
NM_005045.4(RELN):c.8051G>A (p.Arg2684His)
|
rs201157987
|
0.00004
|
|
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser)
|
rs371816961
|
0.00004
|
|
NM_005138.3(SCO2):c.752C>T (p.Ser251Leu)
|
rs768228804
|
0.00004
|
|
NM_005228.5(EGFR):c.1998C>G (p.Leu666=)
|
rs779909747
|
0.00004
|
|
NM_005327.7(HADH):c.710-14C>T
|
rs185267497
|
0.00004
|
|
NM_005422.4(TECTA):c.1685C>T (p.Thr562Met)
|
rs779401654
|
0.00004
|
|
NM_005422.4(TECTA):c.2064G>A (p.Lys688=)
|
rs375140632
|
0.00004
|
|
NM_005422.4(TECTA):c.2288C>T (p.Pro763Leu)
|
rs151296951
|
0.00004
|
|
NM_005422.4(TECTA):c.3742C>T (p.Pro1248Ser)
|
rs202223574
|
0.00004
|
|
NM_005422.4(TECTA):c.4430G>A (p.Arg1477His)
|
rs527976707
|
0.00004
|
|
NM_005422.4(TECTA):c.45C>T (p.Phe15=)
|
rs756460108
|
0.00004
|
|
NM_005445.4(SMC3):c.2268+4C>T
|
rs587784426
|
0.00004
|
|
NM_005445.4(SMC3):c.507C>T (p.Asp169=)
|
rs370909218
|
0.00004
|
|
NM_005458.8(GABBR2):c.1177C>G (p.His393Asp)
|
rs768482972
|
0.00004
|
|
NM_005458.8(GABBR2):c.56C>T (p.Pro19Leu)
|
rs1054346747
|
0.00004
|
|
NM_005491.5(MAMLD1):c.1320A>G (p.Gln440=)
|
rs151207889
|
0.00004
|
|
NM_005529.7(HSPG2):c.11046C>T (p.Ala3682=)
|
rs149466423
|
0.00004
|
|
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=)
|
rs773662857
|
0.00004
|
|
NM_005529.7(HSPG2):c.5934G>A (p.Arg1978=)
|
rs557762861
|
0.00004
|
|
NM_005529.7(HSPG2):c.7407G>A (p.Thr2469=)
|
rs200462415
|
0.00004
|
|
NM_005529.7(HSPG2):c.8164G>A (p.Ala2722Thr)
|
rs201508804
|
0.00004
|
|
NM_005535.3(IL12RB1):c.1179G>A (p.Pro393=)
|
rs145095951
|
0.00004
|
|
NM_005591.4(MRE11):c.1783+7A>G
|
rs774520952
|
0.00004
|
|
NM_005591.4(MRE11):c.940C>T (p.Leu314=)
|
rs368362407
|
0.00004
|
|
NM_005609.4(PYGM):c.1266C>T (p.Asp422=)
|
rs769602726
|
0.00004
|
|
NM_005751.5(AKAP9):c.6946-12A>G
|
rs375657019
|
0.00004
|
|
NM_005957.5(MTHFR):c.90G>A (p.Ser30=)
|
rs765167328
|
0.00004
|
|
NM_005989.4(AKR1D1):c.723T>C (p.Asp241=)
|
rs200829661
|
0.00004
|
|
NM_005993.5(TBCD):c.874C>G (p.Leu292Val)
|
rs375327000
|
0.00004
|
|
NM_005996.4(TBX3):c.2004G>A (p.Ser668=)
|
rs139599654
|
0.00004
|
|
NM_005996.4(TBX3):c.390-9G>A
|
rs753151479
|
0.00004
|
|
NM_006005.3(WFS1):c.1507G>A (p.Val503Ile)
|
rs573775230
|
0.00004
|
|
NM_006005.3(WFS1):c.168C>T (p.Asp56=)
|
rs112598170
|
0.00004
|
|
NM_006005.3(WFS1):c.1743C>T (p.Gly581=)
|
rs377539343
|
0.00004
|
|
NM_006005.3(WFS1):c.1801G>A (p.Val601Met)
|
rs147838635
|
0.00004
|
|
NM_006005.3(WFS1):c.2185G>A (p.Asp729Asn)
|
rs575778537
|
0.00004
|
|
NM_006005.3(WFS1):c.2664G>A (p.Ser888=)
|
rs756116434
|
0.00004
|
|
NM_006005.3(WFS1):c.375C>T (p.Thr125=)
|
rs762324196
|
0.00004
|
|
NM_006031.6(PCNT):c.1281C>T (p.His427=)
|
rs142413458
|
0.00004
|
|
NM_006059.4(LAMC3):c.686T>C (p.Val229Ala)
|
rs149485800
|
0.00004
|
|
NM_006060.6(IKZF1):c.754G>A (p.Asp252Asn)
|
rs762538092
|
0.00004
|
|
NM_006231.4(POLE):c.1357C>G (p.Gln453Glu)
|
rs781360770
|
0.00004
|
|
NM_006231.4(POLE):c.155G>A (p.Arg52Gln)
|
rs372459649
|
0.00004
|
|
NM_006231.4(POLE):c.4952+17C>T
|
rs750268044
|
0.00004
|
|
NM_006231.4(POLE):c.5174-6G>C
|
rs770466844
|
0.00004
|
|
NM_006231.4(POLE):c.6012C>T (p.Ile2004=)
|
rs147806951
|
0.00004
|
|
NM_006231.4(POLE):c.6135C>T (p.Pro2045=)
|
rs368662693
|
0.00004
|
|
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys)
|
rs771490182
|
0.00004
|
|
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val)
|
rs552452448
|
0.00004
|
|
NM_006231.4(POLE):c.912C>T (p.Gly304=)
|
rs1064794932
|
0.00004
|
|
NM_006258.4(PRKG1):c.421A>C (p.Lys141Gln)
|
rs761759814
|
0.00004
|
|
NM_006361.6(HOXB13):c.602-7C>A
|
rs370167148
|
0.00004
|
|
NM_006371.5(CRTAP):c.111A>G (p.Pro37=)
|
rs772038741
|
0.00004
|
|
NM_006420.3(ARFGEF2):c.2253A>G (p.Ala751=)
|
rs770578384
|
0.00004
|
|
NM_006445.4(PRPF8):c.3045C>T (p.Val1015=)
|
rs770535800
|
0.00004
|
|
NM_006445.4(PRPF8):c.6750C>T (p.Gly2250=)
|
rs759598868
|
0.00004
|
|
NM_006493.4(CLN5):c.486C>T (p.Gly162=)
|
rs769007858
|
0.00004
|
|
NM_006516.4(SLC2A1):c.114+18G>A
|
rs745580526
|
0.00004
|
|
NM_006516.4(SLC2A1):c.179C>T (p.Thr60Met)
|
rs142986731
|
0.00004
|
|
NM_006516.4(SLC2A1):c.321C>T (p.Ala107=)
|
rs398124230
|
0.00004
|
|
NM_006565.4(CTCF):c.969G>A (p.Lys323=)
|
rs777402247
|
0.00004
|
|
NM_006567.5(FARS2):c.497C>T (p.Ala166Val)
|
rs538791135
|
0.00004
|
|
NM_006567.5(FARS2):c.676C>T (p.His226Tyr)
|
rs201991648
|
0.00004
|
|
NM_006662.3(SRCAP):c.5610C>T (p.Pro1870=)
|
rs141985098
|
0.00004
|
|
NM_006757.4(TNNT3):c.417C>T (p.Asp139=)
|
rs367932695
|
0.00004
|
|
NM_006766.5(KAT6A):c.1603C>T (p.Pro535Ser)
|
rs753999434
|
0.00004
|
|
NM_006766.5(KAT6A):c.4988C>T (p.Pro1663Leu)
|
rs755968563
|
0.00004
|
|
NM_006766.5(KAT6A):c.5585C>T (p.Ala1862Val)
|
rs759267222
|
0.00004
|
|
NM_006767.4(LZTR1):c.400+10C>T
|
rs375186405
|
0.00004
|
|
NM_006772.3(SYNGAP1):c.1724G>A (p.Arg575His)
|
rs758932190
|
0.00004
|
|
NM_006892.4(DNMT3B):c.1490+9T>C
|
rs370659978
|
0.00004
|
|
NM_006892.4(DNMT3B):c.1542C>T (p.Ala514=)
|
rs140714949
|
0.00004
|
|
NM_006892.4(DNMT3B):c.408C>T (p.Ser136=)
|
rs111877243
|
0.00004
|
|
NM_006922.4(SCN3A):c.4236A>G (p.Gln1412=)
|
rs551837418
|
0.00004
|
|
NM_006922.4(SCN3A):c.474-4C>T
|
rs371709966
|
0.00004
|
|
NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser)
|
rs1391029692
|
0.00004
|
|
NM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg)
|
rs569343105
|
0.00004
|
|
NM_006939.4(SOS2):c.3902A>G (p.His1301Arg)
|
rs759124324
|
0.00004
|
|
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu)
|
rs770603835
|
0.00004
|
|
NM_006946.4(SPTBN2):c.1906C>T (p.Arg636Trp)
|
rs773155491
|
0.00004
|
|
NM_006946.4(SPTBN2):c.2647C>T (p.Arg883Cys)
|
rs761263852
|
0.00004
|
|
NM_006946.4(SPTBN2):c.5060G>A (p.Arg1687Gln)
|
rs763770499
|
0.00004
|
|
NM_006946.4(SPTBN2):c.5804G>A (p.Arg1935His)
|
rs145750214
|
0.00004
|
|
NM_006946.4(SPTBN2):c.6929C>T (p.Ala2310Val)
|
rs749226138
|
0.00004
|
|
NM_006947.4(SRP72):c.40C>T (p.Leu14=)
|
rs779131373
|
0.00004
|
|
NM_006949.4(STXBP2):c.1452+7G>T
|
rs746604591
|
0.00004
|
|
NM_006949.4(STXBP2):c.1453-6C>T
|
rs200538123
|
0.00004
|
|
NM_006949.4(STXBP2):c.1671C>T (p.Thr557=)
|
rs750599225
|
0.00004
|
|
NM_006950.3(SYN1):c.435+10G>A
|
rs771547188
|
0.00004
|
|
NM_007078.3(LDB3):c.689+3861C>T
|
rs754704023
|
0.00004
|
|
NM_007078.3(LDB3):c.690-4617G>A
|
rs754174632
|
0.00004
|
|
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=)
|
rs201544715
|
0.00004
|
|
NM_007215.4(POLG2):c.865C>G (p.Leu289Val)
|
rs530697513
|
0.00004
|
|
NM_007259.5(VPS45):c.390T>C (p.Ile130=)
|
rs782273593
|
0.00004
|
|
NM_007272.3(CTRC):c.81C>T (p.Ser27=)
|
rs749455108
|
0.00004
|
|
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp)
|
rs80356899
|
0.00004
|
|
NM_007375.4(TARDBP):c.57A>G (p.Pro19=)
|
rs532319219
|
0.00004
|
|
NM_012073.5(CCT5):c.1075G>A (p.Val359Ile)
|
rs147989324
|
0.00004
|
|
NM_012144.4(DNAI1):c.1155C>T (p.Gly385=)
|
rs549401132
|
0.00004
|
|
NM_012179.4(FBXO7):c.1535G>A (p.Gly512Asp)
|
rs142471722
|
0.00004
|
|
NM_012254.3(SLC27A5):c.225C>T (p.Leu75=)
|
rs372436444
|
0.00004
|
|
NM_013266.4(CTNNA3):c.2404G>T (p.Asp802Tyr)
|
rs530727340
|
0.00004
|
|
NM_013339.4(ALG6):c.167+7T>C
|
rs374146302
|
0.00004
|
|
NM_013339.4(ALG6):c.618C>T (p.His206=)
|
rs374336458
|
0.00004
|
|
NM_014000.3(VCL):c.1177-14G>A
|
rs778137720
|
0.00004
|
|
NM_014000.3(VCL):c.1607C>A (p.Pro536His)
|
rs200624351
|
0.00004
|
|
NM_014000.3(VCL):c.2472C>G (p.Ile824Met)
|
rs140381835
|
0.00004
|
|
NM_014000.3(VCL):c.2746-8C>T
|
rs532645343
|
0.00004
|
|
NM_014009.4(FOXP3):c.331G>A (p.Ala111Thr)
|
rs1424687079
|
0.00004
|
|
NM_014014.5(SNRNP200):c.1581G>A (p.Met527Ile)
|
rs148170370
|
0.00004
|
|
NM_014014.5(SNRNP200):c.4728C>T (p.Ile1576=)
|
rs377641548
|
0.00004
|
|
NM_014053.4(FLVCR1):c.1365C>T (p.Tyr455=)
|
rs779980010
|
0.00004
|
|
NM_014140.4(SMARCAL1):c.1147+8G>A
|
rs759562755
|
0.00004
|
|
NM_014140.4(SMARCAL1):c.1251G>A (p.Thr417=)
|
rs372331472
|
0.00004
|
|
NM_014140.4(SMARCAL1):c.448G>T (p.Ala150Ser)
|
rs376295895
|
0.00004
|
|
NM_014141.6(CNTNAP2):c.1623G>A (p.Pro541=)
|
rs146873712
|
0.00004
|
|
NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu)
|
rs775780402
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.102C>A (p.Pro34=)
|
rs1402048390
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.1911C>T (p.Gly637=)
|
rs142275705
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=)
|
rs752737484
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.2145C>T (p.Cys715=)
|
rs372661052
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.2751-15G>A
|
rs376602983
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=)
|
rs753246905
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.976-10C>A
|
rs973000351
|
0.00004
|
|
NM_014249.4(NR2E3):c.444T>C (p.Ala148=)
|
rs533192044
|
0.00004
|
|
NM_014252.4(SLC25A15):c.255C>T (p.Tyr85=)
|
rs536354947
|
0.00004
|
|
NM_014339.7(IL17RA):c.1045+6C>T
|
rs763664351
|
0.00004
|
|
NM_014339.7(IL17RA):c.1381C>T (p.Arg461Trp)
|
rs554211497
|
0.00004
|
|
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile)
|
rs200591364
|
0.00004
|
|
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser)
|
rs780789569
|
0.00004
|
|
NM_014363.6(SACS):c.11276C>T (p.Thr3759Met)
|
rs751176093
|
0.00004
|
|
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn)
|
rs762041995
|
0.00004
|
|
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu)
|
rs150225486
|
0.00004
|
|
NM_014363.6(SACS):c.134C>T (p.Pro45Leu)
|
rs1033188876
|
0.00004
|
|
NM_014363.6(SACS):c.1387C>A (p.His463Asn)
|
rs149951538
|
0.00004
|
|
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr)
|
rs778572943
|
0.00004
|
|
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)
|
rs138245586
|
0.00004
|
|
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)
|
rs764992284
|
0.00004
|
|
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile)
|
rs191995849
|
0.00004
|
|
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn)
|
rs769751841
|
0.00004
|
|
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala)
|
rs763504656
|
0.00004
|
|
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)
|
rs749327297
|
0.00004
|
|
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)
|
rs149290718
|
0.00004
|
|
NM_014391.3(ANKRD1):c.545G>A (p.Arg182His)
|
rs530739375
|
0.00004
|
|
NM_014639.4(SKIC3):c.3710C>T (p.Ala1237Val)
|
rs557540994
|
0.00004
|
|
NM_014704.4(CEP104):c.2662+10A>T
|
rs552644535
|
0.00004
|
|
NM_014714.4(IFT140):c.2424G>A (p.Ala808=)
|
rs375979698
|
0.00004
|
|
NM_014714.4(IFT140):c.3252G>A (p.Ala1084=)
|
rs375975334
|
0.00004
|
|
NM_014714.4(IFT140):c.4182+15C>T
|
rs374874160
|
0.00004
|
|
NM_014714.4(IFT140):c.4350G>A (p.Leu1450=)
|
rs750381445
|
0.00004
|
|
NM_014727.3(KMT2B):c.5504A>T (p.His1835Leu)
|
rs199510721
|
0.00004
|
|
NM_014780.5(CUL7):c.4876C>G (p.Leu1626Val)
|
rs750060978
|
0.00004
|
|
NM_014795.4(ZEB2):c.332-6C>T
|
rs730881186
|
0.00004
|
|
NM_014795.4(ZEB2):c.466C>T (p.Arg156Cys)
|
rs147021269
|
0.00004
|
|
NM_014844.5(TECPR2):c.1335C>T (p.Asn445=)
|
rs778115838
|
0.00004
|
|
NM_014844.5(TECPR2):c.3507C>T (p.Ala1169=)
|
rs775448295
|
0.00004
|
|
NM_014844.5(TECPR2):c.669A>C (p.Pro223=)
|
rs750443286
|
0.00004
|
|
NM_014855.3(AP5Z1):c.540G>A (p.Leu180=)
|
rs768017182
|
0.00004
|
|
NM_014855.3(AP5Z1):c.660A>G (p.Thr220=)
|
rs756140557
|
0.00004
|
|
NM_014874.4(MFN2):c.1269G>A (p.Thr423=)
|
rs145994616
|
0.00004
|
|
NM_014915.3(ANKRD26):c.1565-4T>C
|
rs747570982
|
0.00004
|
|
NM_014946.4(SPAST):c.441A>G (p.Glu147=)
|
rs375027118
|
0.00004
|
|
NM_015178.3(RHOBTB2):c.1681G>A (p.Gly561Ser)
|
rs372306607
|
0.00004
|
|
NM_015192.4(PLCB1):c.1764-6G>C
|
rs753832760
|
0.00004
|
|
NM_015311.3(OBSL1):c.4122C>T (p.Gly1374=)
|
rs374001837
|
0.00004
|
|
NM_015340.4(LARS2):c.944C>T (p.Ser315Leu)
|
rs755162646
|
0.00004
|
|
NM_015378.4(VPS13D):c.7722G>C (p.Leu2574=)
|
rs746257631
|
0.00004
|
|
NM_015404.4(WHRN):c.1417-8G>A
|
rs202228471
|
0.00004
|
|
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile)
|
rs373552185
|
0.00004
|
|
NM_015443.4(KANSL1):c.1652C>T (p.Thr551Ile)
|
rs778178483
|
0.00004
|
|
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=)
|
rs775726168
|
0.00004
|
|
NM_015559.3(SETBP1):c.4160C>T (p.Thr1387Met)
|
rs200881888
|
0.00004
|
|
NM_015662.3(IFT172):c.184-6T>A
|
rs371658303
|
0.00004
|
|
NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)
|
rs76076247
|
0.00004
|
|
NM_015702.3(MMADHC):c.696+13C>A
|
rs199528296
|
0.00004
|
|
NM_016204.4(GDF2):c.716C>T (p.Thr239Met)
|
rs782560993
|
0.00004
|
|
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=)
|
rs372125925
|
0.00004
|
|
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=)
|
rs199738190
|
0.00004
|
|
NM_016219.5(MAN1B1):c.620+9C>T
|
rs535697514
|
0.00004
|
|
NM_016222.4(DDX41):c.1308C>T (p.Leu436=)
|
rs767835537
|
0.00004
|
|
NM_016222.4(DDX41):c.1622-3C>T
|
rs200471726
|
0.00004
|
|
NM_016239.4(MYO15A):c.5193C>T (p.Phe1731=)
|
rs767426819
|
0.00004
|
|
NM_016239.4(MYO15A):c.5526C>T (p.Ile1842=)
|
rs370047914
|
0.00004
|
|
NM_016239.4(MYO15A):c.5603G>A (p.Arg1868His)
|
rs374249526
|
0.00004
|
|
NM_016239.4(MYO15A):c.6623C>T (p.Pro2208Leu)
|
rs376939609
|
0.00004
|
|
NM_016239.4(MYO15A):c.6729G>A (p.Thr2243=)
|
rs531965733
|
0.00004
|
|
NM_016239.4(MYO15A):c.917G>A (p.Gly306Asp)
|
rs770104934
|
0.00004
|
|
NM_016580.4(PCDH12):c.1758C>T (p.Gly586=)
|
rs751172816
|
0.00004
|
|
NM_016953.4(PDE11A):c.229G>A (p.Gly77Arg)
|
rs777448999
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn)
|
rs765293859
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser)
|
rs375260339
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His)
|
rs762091081
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val)
|
rs114479009
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly)
|
rs1060502236
|
0.00004
|
|
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp)
|
rs398124324
|
0.00004
|
|
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser)
|
rs780161032
|
0.00004
|
|
NM_018006.5(TRMU):c.1218C>T (p.Ser406=)
|
rs754239335
|
0.00004
|
|
NM_018006.5(TRMU):c.30C>T (p.Ala10=)
|
rs776692221
|
0.00004
|
|
NM_018006.5(TRMU):c.429C>T (p.His143=)
|
rs746421213
|
0.00004
|
|
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg)
|
rs121909283
|
0.00004
|
|
NM_018136.5(ASPM):c.3726A>G (p.Thr1242=)
|
rs376539395
|
0.00004
|
|
NM_018136.5(ASPM):c.6550C>T (p.Arg2184Trp)
|
rs138727741
|
0.00004
|
|
NM_018648.4(NOP10):c.51G>C (p.Leu17=)
|
rs761222362
|
0.00004
|
|
NM_018668.5(VPS33B):c.1170+5G>A
|
rs201431055
|
0.00004
|
|
NM_018834.6(MATR3):c.1778+3A>G
|
rs568895329
|
0.00004
|
|
NM_018896.5(CACNA1G):c.2128A>T (p.Ser710Cys)
|
rs543673731
|
0.00004
|
|
NM_018979.4(WNK1):c.2266C>G (p.Gln756Glu)
|
rs768622577
|
0.00004
|
|
NM_018979.4(WNK1):c.4135A>G (p.Thr1379Ala)
|
rs758763241
|
0.00004
|
|
NM_019892.6(INPP5E):c.1388-5C>T
|
rs187956407
|
0.00004
|
|
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=)
|
rs377320336
|
0.00004
|
|
NM_020223.4(FAM20C):c.795G>A (p.Ser265=)
|
rs766106805
|
0.00004
|
|
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr)
|
rs762900727
|
0.00004
|
|
NM_020297.4(ABCC9):c.3589C>T (p.Arg1197Cys)
|
rs778849288
|
0.00004
|
|
NM_020376.4(PNPLA2):c.747G>A (p.Leu249=)
|
rs140959695
|
0.00004
|
|
NM_020376.4(PNPLA2):c.806C>T (p.Pro269Leu)
|
rs201894536
|
0.00004
|
|
NM_020458.4(TTC7A):c.1603A>T (p.Ile535Phe)
|
rs749071692
|
0.00004
|
|
NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=)
|
rs201076545
|
0.00004
|
|
NM_020533.3(MCOLN1):c.984+13C>T
|
rs376284815
|
0.00004
|
|
NM_020549.5(CHAT):c.1037G>A (p.Arg346His)
|
rs779668516
|
0.00004
|
|
NM_020686.6(ABAT):c.555G>A (p.Gly185=)
|
rs147765799
|
0.00004
|
|
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe)
|
rs780875110
|
0.00004
|
|
NM_020822.3(KCNT1):c.1996A>T (p.Ile666Phe)
|
rs376231681
|
0.00004
|
|
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu)
|
rs375749415
|
0.00004
|
|
NM_020928.2(ZSWIM6):c.3035C>T (p.Thr1012Met)
|
rs138406248
|
0.00004
|
|
NM_020987.5(ANK3):c.6072C>T (p.Ser2024=)
|
rs532643979
|
0.00004
|
|
NM_021076.4(NEFH):c.141C>T (p.Phe47=)
|
rs780966618
|
0.00004
|
|
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu)
|
rs200199102
|
0.00004
|
|
NM_021830.5(TWNK):c.1827C>A (p.Arg609=)
|
rs146601680
|
0.00004
|
|
NM_021939.4(FKBP10):c.315C>T (p.Gly105=)
|
rs373064272
|
0.00004
|
|
NM_021939.4(FKBP10):c.44C>G (p.Pro15Arg)
|
rs572425083
|
0.00004
|
|
NM_021957.4(GYS2):c.942-12G>A
|
rs367916210
|
0.00004
|
|
NM_022041.4(GAN):c.444C>T (p.His148=)
|
rs764605890
|
0.00004
|
|
NM_022041.4(GAN):c.75G>A (p.Glu25=)
|
rs754548795
|
0.00004
|
|
NM_022081.6(HPS4):c.13A>G (p.Thr5Ala)
|
rs570371168
|
0.00004
|
|
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=)
|
rs567287489
|
0.00004
|
|
NM_022089.4(ATP13A2):c.407C>T (p.Ala136Val)
|
rs562519835
|
0.00004
|
|
NM_022095.4(ZNF335):c.3444C>T (p.Thr1148=)
|
rs759216909
|
0.00004
|
|
NM_022124.6(CDH23):c.1450-10G>A
|
rs751220612
|
0.00004
|
|
NM_022124.6(CDH23):c.1584C>T (p.Arg528=)
|
rs397517309
|
0.00004
|
|
NM_022124.6(CDH23):c.160C>G (p.Gln54Glu)
|
rs765455172
|
0.00004
|
|
NM_022124.6(CDH23):c.1665C>T (p.Asn555=)
|
rs397517310
|
0.00004
|
|
NM_022124.6(CDH23):c.1719C>T (p.Asn573=)
|
rs761913744
|
0.00004
|
|
NM_022124.6(CDH23):c.1750C>T (p.Arg584Trp)
|
rs375781856
|
0.00004
|
|
NM_022124.6(CDH23):c.3915C>T (p.Asn1305=)
|
rs568924674
|
0.00004
|
|
NM_022124.6(CDH23):c.4738C>T (p.Arg1580Cys)
|
rs555430482
|
0.00004
|
|
NM_022124.6(CDH23):c.5713-9A>G
|
rs397517343
|
0.00004
|
|
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=)
|
rs568741210
|
0.00004
|
|
NM_022124.6(CDH23):c.8931C>T (p.His2977=)
|
rs781099726
|
0.00004
|
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00004
|
|
NM_022167.4(XYLT2):c.2312A>G (p.Asn771Ser)
|
rs199705453
|
0.00004
|
|
NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile)
|
rs143402711
|
0.00004
|
|
NM_022436.3(ABCG5):c.1569C>T (p.Ile523=)
|
rs376969021
|
0.00004
|
|
NM_022437.3(ABCG8):c.15G>A (p.Ala5=)
|
rs200951677
|
0.00004
|
|
NM_022437.3(ABCG8):c.331A>C (p.Arg111=)
|
rs752358589
|
0.00004
|
|
NM_022437.3(ABCG8):c.369C>T (p.His123=)
|
rs139859350
|
0.00004
|
|
NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe)
|
rs547583131
|
0.00004
|
|
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser)
|
rs188847458
|
0.00004
|
|
NM_022489.4(INF2):c.1147G>A (p.Val383Met)
|
rs780689756
|
0.00004
|
|
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln)
|
rs372333024
|
0.00004
|
|
NM_022489.4(INF2):c.2204G>A (p.Arg735Gln)
|
rs375390523
|
0.00004
|
|
NM_022489.4(INF2):c.2857C>T (p.Arg953Trp)
|
rs942393807
|
0.00004
|
|
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp)
|
rs780428043
|
0.00004
|
|
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=)
|
rs200043910
|
0.00004
|
|
NM_023036.6(DNAI2):c.663G>A (p.Thr221=)
|
rs368232107
|
0.00004
|
|
NM_024009.3(GJB3):c.499G>A (p.Val167Met)
|
rs376748531
|
0.00004
|
|
NM_024422.6(DSC2):c.408A>G (p.Arg136=)
|
rs561653481
|
0.00004
|
|
NM_024513.4(FYCO1):c.3831C>T (p.Asp1277=)
|
rs755502918
|
0.00004
|
|
NM_024589.3(ROGDI):c.555G>C (p.Pro185=)
|
rs771793763
|
0.00004
|
|
NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr)
|
rs756116550
|
0.00004
|
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
|
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn)
|
rs377209277
|
0.00004
|
|
NM_024753.5(TTC21B):c.913A>G (p.Ile305Val)
|
rs140899101
|
0.00004
|
|
NM_024876.4(COQ8B):c.298G>T (p.Val100Leu)
|
rs745669537
|
0.00004
|
|
NM_025074.7(FRAS1):c.9450G>T (p.Val3150=)
|
rs372168929
|
0.00004
|
|
NM_025099.6(CTC1):c.1542A>G (p.Leu514=)
|
rs369802087
|
0.00004
|
|
NM_025137.4(SPG11):c.36C>T (p.Ser12=)
|
rs368656047
|
0.00004
|
|
NM_025237.3(SOST):c.147G>A (p.Glu49=)
|
rs749432078
|
0.00004
|
|
NM_030665.4(RAI1):c.2220C>T (p.Ser740=)
|
rs149807469
|
0.00004
|
|
NM_030665.4(RAI1):c.3143C>A (p.Ala1048Asp)
|
rs758990336
|
0.00004
|
|
NM_030665.4(RAI1):c.5204C>T (p.Pro1735Leu)
|
rs376429075
|
0.00004
|
|
NM_030665.4(RAI1):c.719C>T (p.Thr240Ile)
|
rs142646842
|
0.00004
|
|
NM_030787.4(CFHR5):c.608-6T>C
|
rs373318468
|
0.00004
|
|
NM_031220.4(PITPNM3):c.747G>A (p.Lys249=)
|
rs371282530
|
0.00004
|
|
NM_031433.4(MFRP):c.271+10C>T
|
rs554865241
|
0.00004
|
|
NM_031433.4(MFRP):c.321C>T (p.Ala107=)
|
rs562580805
|
0.00004
|
|
NM_032119.4(ADGRV1):c.11071G>A (p.Ala3691Thr)
|
rs370941998
|
0.00004
|
|
NM_032119.4(ADGRV1):c.12335T>G (p.Leu4112Trp)
|
rs550815037
|
0.00004
|
|
NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser)
|
rs576429729
|
0.00004
|
|
NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu)
|
rs765063091
|
0.00004
|
|
NM_032119.4(ADGRV1):c.12682A>G (p.Ile4228Val)
|
rs532836800
|
0.00004
|
|
NM_032119.4(ADGRV1):c.14970C>A (p.Leu4990=)
|
rs368420512
|
0.00004
|
|
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr)
|
rs376376418
|
0.00004
|
|
NM_032119.4(ADGRV1):c.16313C>T (p.Thr5438Ile)
|
rs745477465
|
0.00004
|
|
NM_032119.4(ADGRV1):c.17388G>A (p.Gln5796=)
|
rs183208875
|
0.00004
|
|
NM_032119.4(ADGRV1):c.1801G>T (p.Asp601Tyr)
|
rs375085032
|
0.00004
|
|
NM_032119.4(ADGRV1):c.18831A>G (p.Glu6277=)
|
rs549421635
|
0.00004
|
|
NM_032119.4(ADGRV1):c.212A>G (p.Tyr71Cys)
|
rs530533430
|
0.00004
|
|
NM_032119.4(ADGRV1):c.2474A>T (p.Asn825Ile)
|
rs374034519
|
0.00004
|
|
NM_032119.4(ADGRV1):c.2524T>G (p.Leu842Val)
|
rs370265583
|
0.00004
|
|
NM_032119.4(ADGRV1):c.2543G>A (p.Gly848Glu)
|
rs959132080
|
0.00004
|
|
NM_032119.4(ADGRV1):c.3431G>A (p.Arg1144Gln)
|
rs199735068
|
0.00004
|
|
NM_032119.4(ADGRV1):c.3819G>A (p.Arg1273=)
|
rs764738838
|
0.00004
|
|
NM_032119.4(ADGRV1):c.4171G>A (p.Glu1391Lys)
|
rs766007827
|
0.00004
|
|
NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp)
|
rs370432538
|
0.00004
|
|
NM_032119.4(ADGRV1):c.5537T>C (p.Val1846Ala)
|
rs756062421
|
0.00004
|
|
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg)
|
rs200974394
|
0.00004
|
|
NM_032119.4(ADGRV1):c.5587G>A (p.Val1863Ile)
|
rs529184143
|
0.00004
|
|
NM_032119.4(ADGRV1):c.5833A>G (p.Lys1945Glu)
|
rs772605124
|
0.00004
|
|
NM_032119.4(ADGRV1):c.6338A>G (p.Asn2113Ser)
|
rs201579557
|
0.00004
|
|
NM_032119.4(ADGRV1):c.6578T>C (p.Ile2193Thr)
|
rs201999622
|
0.00004
|
|
NM_032119.4(ADGRV1):c.854G>A (p.Arg285His)
|
rs397517439
|
0.00004
|
|
NM_032119.4(ADGRV1):c.8591C>T (p.Thr2864Met)
|
rs397517440
|
0.00004
|
|
NM_032273.4(TMEM126A):c.531A>G (p.Gln177=)
|
rs369467944
|
0.00004
|
|
NM_032415.7(CARD11):c.3382G>A (p.Val1128Ile)
|
rs372251654
|
0.00004
|
|
NM_032578.4(MYPN):c.1229T>C (p.Val410Ala)
|
rs199476406
|
0.00004
|
|
NM_032581.4(HYCC1):c.1044C>T (p.Asp348=)
|
rs768075744
|
0.00004
|
|
NM_032634.4(PIGO):c.468C>T (p.His156=)
|
rs374876329
|
0.00004
|
|
NM_032737.4(LMNB2):c.1750C>T (p.Arg584Cys)
|
rs201873197
|
0.00004
|
|
NM_032888.4(COL27A1):c.296C>T (p.Ala99Val)
|
rs150759476
|
0.00004
|
|
NM_033056.4(PCDH15):c.4864del (p.Ser1622fs)
|
rs1393195833
|
0.00004
|
|
NM_033118.4(MYLK2):c.558G>A (p.Thr186=)
|
rs140695242
|
0.00004
|
|
NM_033159.4(HYAL1):c.483T>C (p.Asp161=)
|
rs368360137
|
0.00004
|
|
NM_033343.4(LHX4):c.837C>T (p.Asp279=)
|
rs150931176
|
0.00004
|
|
NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly)
|
rs104886071
|
0.00004
|
|
NM_052845.4(MMAB):c.349-9G>A
|
rs372577644
|
0.00004
|
|
NM_052845.4(MMAB):c.402G>A (p.Ser134=)
|
rs756766385
|
0.00004
|
|
NM_052859.4(RFT1):c.1208+15A>G
|
rs1448297165
|
0.00004
|
|
NM_052859.4(RFT1):c.1344C>T (p.Cys448=)
|
rs369135875
|
0.00004
|
|
NM_052859.4(RFT1):c.821A>G (p.Asp274Gly)
|
rs781066087
|
0.00004
|
|
NM_052867.4(NALCN):c.2050A>T (p.Thr684Ser)
|
rs751927717
|
0.00004
|
|
NM_052945.4(TNFRSF13C):c.307C>A (p.Arg103=)
|
rs369626832
|
0.00004
|
|
NM_053025.4(MYLK):c.1213A>G (p.Met405Val)
|
rs35436690
|
0.00004
|
|
NM_053025.4(MYLK):c.374-9T>C
|
rs376695367
|
0.00004
|
|
NM_053025.4(MYLK):c.4302A>G (p.Glu1434=)
|
rs145872838
|
0.00004
|
|
NM_057176.3(BSND):c.744G>A (p.Thr248=)
|
rs754819005
|
0.00004
|
|
NM_058246.4(DNAJB6):c.347-14A>T
|
rs368036062
|
0.00004
|
|
NM_058246.4(DNAJB6):c.404G>A (p.Arg135Gln)
|
rs772121051
|
0.00004
|
|
NM_080680.3(COL11A2):c.12C>T (p.Cys4=)
|
rs914781832
|
0.00004
|
|
NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala)
|
rs779116250
|
0.00004
|
|
NM_080680.3(COL11A2):c.2546G>A (p.Arg849Gln)
|
rs761524468
|
0.00004
|
|
NM_080680.3(COL11A2):c.2841C>T (p.Pro947=)
|
rs565891154
|
0.00004
|
|
NM_080680.3(COL11A2):c.2932G>A (p.Asp978Asn)
|
rs772537556
|
0.00004
|
|
NM_080680.3(COL11A2):c.3267G>A (p.Val1089=)
|
rs781462105
|
0.00004
|
|
NM_080680.3(COL11A2):c.3679C>T (p.Pro1227Ser)
|
rs142500487
|
0.00004
|
|
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys)
|
rs758507327
|
0.00004
|
|
NM_080680.3(COL11A2):c.4055C>T (p.Pro1352Leu)
|
rs763995767
|
0.00004
|
|
NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu)
|
rs201315111
|
0.00004
|
|
NM_080680.3(COL11A2):c.4676G>A (p.Arg1559Gln)
|
rs774845879
|
0.00004
|
|
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile)
|
rs375937729
|
0.00004
|
|
NM_080680.3(COL11A2):c.587T>C (p.Leu196Pro)
|
rs150982987
|
0.00004
|
|
NM_080911.3(UNG):c.81C>A (p.Ala27=)
|
rs761928219
|
0.00004
|
|
NM_130468.4(CHST14):c.315G>A (p.Arg105=)
|
rs903042632
|
0.00004
|
|
NM_130837.3(OPA1):c.2213G>A (p.Arg738His)
|
rs542540811
|
0.00004
|
|
NM_130837.3(OPA1):c.2520+13A>G
|
rs371943802
|
0.00004
|
|
NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser)
|
rs200428940
|
0.00004
|
|
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys)
|
rs372435892
|
0.00004
|
|
NM_130837.3(OPA1):c.617C>T (p.Pro206Leu)
|
rs772090345
|
0.00004
|
|
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr)
|
rs141984760
|
0.00004
|
|
NM_133261.3(GIPC3):c.213C>A (p.Ile71=)
|
rs876657467
|
0.00004
|
|
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro)
|
rs149892167
|
0.00004
|
|
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=)
|
rs587783913
|
0.00004
|
|
NM_138691.3(TMC1):c.1567-14T>G
|
rs727503485
|
0.00004
|
|
NM_138694.4(PKHD1):c.150T>G (p.Leu50=)
|
rs529214120
|
0.00004
|
|
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=)
|
rs746441159
|
0.00004
|
|
NM_138694.4(PKHD1):c.2280-10C>T
|
rs749295454
|
0.00004
|
|
NM_138694.4(PKHD1):c.8173+12C>T
|
rs368093611
|
0.00004
|
|
NM_139318.5(KCNH5):c.2828C>T (p.Ser943Leu)
|
rs761523326
|
0.00004
|
|
NM_144672.4(OTOA):c.462C>T (p.Gly154=)
|
rs767974412
|
0.00004
|
|
NM_144687.4(NLRP12):c.289+13C>T
|
rs776591533
|
0.00004
|
|
NM_144997.7(FLCN):c.1418T>C (p.Val473Ala)
|
rs144883828
|
0.00004
|
|
NM_145200.5(CABP4):c.187G>A (p.Gly63Ser)
|
rs767502632
|
0.00004
|
|
NM_145691.4(ATPAF2):c.241G>A (p.Val81Ile)
|
rs371136012
|
0.00004
|
|
NM_152564.5(VPS13B):c.10890T>C (p.Asp3630=)
|
rs773474909
|
0.00004
|
|
NM_152564.5(VPS13B):c.11616G>A (p.Val3872=)
|
rs760377055
|
0.00004
|
|
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His)
|
rs138171489
|
0.00004
|
|
NM_152564.5(VPS13B):c.4240C>T (p.Leu1414=)
|
rs754939057
|
0.00004
|
|
NM_152564.5(VPS13B):c.5077-13G>A
|
rs376055963
|
0.00004
|
|
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=)
|
rs143728471
|
0.00004
|
|
NM_152703.5(SAMD9L):c.3687G>A (p.Val1229=)
|
rs774463519
|
0.00004
|
|
NM_153006.3(NAGS):c.429G>A (p.Val143=)
|
rs199976538
|
0.00004
|
|
NM_153006.3(NAGS):c.534G>A (p.Pro178=)
|
rs539061299
|
0.00004
|
|
NM_153006.3(NAGS):c.940G>A (p.Ala314Thr)
|
rs186127828
|
0.00004
|
|
NM_153603.4(COG7):c.1137+9G>A
|
rs746762111
|
0.00004
|
|
NM_153603.4(COG7):c.963C>T (p.Thr321=)
|
rs762510375
|
0.00004
|
|
NM_153676.4(USH1C):c.1768G>A (p.Ala590Thr)
|
rs369255684
|
0.00004
|
|
NM_170707.4(LMNA):c.936+12C>T
|
rs199881992
|
0.00004
|
|
NM_172250.3(MMAA):c.440-4G>A
|
rs780768376
|
0.00004
|
|
NM_172351.3(CD46):c.293C>T (p.Thr98Ile)
|
rs116800126
|
0.00004
|
|
NM_172362.3(KCNH1):c.544T>A (p.Ser182Thr)
|
rs749800577
|
0.00004
|
|
NM_173076.3(ABCA12):c.4873A>G (p.Thr1625Ala)
|
rs553840038
|
0.00004
|
|
NM_173689.7(CRB2):c.2416G>A (p.Val806Ile)
|
rs560877883
|
0.00004
|
|
NM_177438.3(DICER1):c.2951A>G (p.Asn984Ser)
|
rs750932552
|
0.00004
|
|
NM_177438.3(DICER1):c.77C>T (p.Pro26Leu)
|
rs201358110
|
0.00004
|
|
NM_177438.3(DICER1):c.897G>A (p.Ser299=)
|
rs201842071
|
0.00004
|
|
NM_177550.5(SLC13A5):c.1156+20C>T
|
rs368150158
|
0.00004
|
|
NM_178170.3(NEK8):c.1039G>A (p.Val347Ile)
|
rs372172665
|
0.00004
|
|
NM_178170.3(NEK8):c.1251C>T (p.Ser417=)
|
rs149239987
|
0.00004
|
|
NM_182760.4(SUMF1):c.726-14G>T
|
rs370793169
|
0.00004
|
|
NM_182914.3(SYNE2):c.13917+10C>T
|
rs760288753
|
0.00004
|
|
NM_182925.5(FLT4):c.521C>T (p.Ser174Leu)
|
rs773696166
|
0.00004
|
|
NM_183235.3(RAB27A):c.168T>C (p.Ser56=)
|
rs376232909
|
0.00004
|
|
NM_183357.3(ADCY5):c.1127_1129del (p.Leu376_Lys377delinsGln)
|
rs765952713
|
0.00004
|
|
NM_194248.3(OTOF):c.302T>C (p.Ile101Thr)
|
rs754508360
|
0.00004
|
|
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser)
|
rs140023414
|
0.00004
|
|
NM_194248.3(OTOF):c.3707G>A (p.Arg1236His)
|
rs368633281
|
0.00004
|
|
NM_194248.3(OTOF):c.4375G>A (p.Val1459Met)
|
rs749384668
|
0.00004
|
|
NM_198506.5(LRIT3):c.1467C>T (p.Asn489=)
|
rs369821286
|
0.00004
|
|
NM_198525.3(KIF7):c.1290C>T (p.Pro430=)
|
rs886051534
|
0.00004
|
|
NM_198525.3(KIF7):c.3123G>A (p.Thr1041=)
|
rs146808726
|
0.00004
|
|
NM_198525.3(KIF7):c.3486G>A (p.Gln1162=)
|
rs185689321
|
0.00004
|
|
NM_198578.4(LRRK2):c.3969A>G (p.Gln1323=)
|
rs372245035
|
0.00004
|
|
NM_198904.4(GABRG2):c.1189A>G (p.Ile397Val)
|
rs375785093
|
0.00004
|
|
NM_198994.3(TGM6):c.727G>A (p.Gly243Ser)
|
rs202245813
|
0.00004
|
|
NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys)
|
rs376137910
|
0.00004
|
|
NM_199242.3(UNC13D):c.2496G>A (p.Ala832=)
|
rs763343306
|
0.00004
|
|
NM_199242.3(UNC13D):c.3067C>T (p.Arg1023Cys)
|
rs140599939
|
0.00004
|
|
NM_201253.3(CRB1):c.1046A>T (p.Gln349Leu)
|
rs148551147
|
0.00004
|
|
NM_201525.4(ADGRG1):c.1781G>A (p.Arg594His)
|
rs757051705
|
0.00004
|
|
NM_203486.3(DLL3):c.531C>T (p.Arg177=)
|
rs1013696397
|
0.00004
|
|
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn)
|
rs727505166
|
0.00004
|
|
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His)
|
rs775075094
|
0.00004
|
|
NM_206933.4(USH2A):c.14871G>C (p.Leu4957=)
|
rs748007443
|
0.00004
|
|
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly)
|
rs201026468
|
0.00004
|
|
NM_206933.4(USH2A):c.7429G>A (p.Asp2477Asn)
|
rs772852467
|
0.00004
|
|
NM_206933.4(USH2A):c.8856C>T (p.Asp2952=)
|
rs149306655
|
0.00004
|
|
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro)
|
rs368986242
|
0.00004
|
|
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp)
|
rs199476185
|
0.00004
|
|
NM_207361.6(FREM2):c.8509C>T (p.Pro2837Ser)
|
rs766715445
|
0.00004
|
|
NM_000018.4(ACADVL):c.343-14T>C
|
rs200368309
|
0.00003
|
|
NM_000023.4(SGCA):c.34G>A (p.Val12Met)
|
rs766209304
|
0.00003
|
|
NM_000023.4(SGCA):c.522C>T (p.Asn174=)
|
rs148960833
|
0.00003
|
|
NM_000026.4(ADSL):c.763C>T (p.Leu255=)
|
rs771049726
|
0.00003
|
|
NM_000038.6(APC):c.1495C>G (p.Arg499Gly)
|
rs137854580
|
0.00003
|
|
NM_000038.6(APC):c.1557A>G (p.Leu519=)
|
rs765537673
|
0.00003
|
|
NM_000038.6(APC):c.2738A>G (p.His913Arg)
|
rs762572576
|
0.00003
|
|
NM_000038.6(APC):c.3529A>G (p.Ile1177Val)
|
rs369834416
|
0.00003
|
|
NM_000038.6(APC):c.4334C>T (p.Thr1445Ile)
|
rs760686348
|
0.00003
|
|
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser)
|
rs587779799
|
0.00003
|
|
NM_000038.6(APC):c.7150T>A (p.Leu2384Ile)
|
rs755345693
|
0.00003
|
|
NM_000038.6(APC):c.7415C>T (p.Ala2472Val)
|
rs200399245
|
0.00003
|
|
NM_000038.6(APC):c.757G>A (p.Gly253Ser)
|
rs772806807
|
0.00003
|
|
NM_000038.6(APC):c.848G>A (p.Arg283Gln)
|
rs149154604
|
0.00003
|
|
NM_000046.5(ARSB):c.729G>A (p.Glu243=)
|
rs144029271
|
0.00003
|
|
NM_000048.4(ASL):c.924C>T (p.Ala308=)
|
rs747831550
|
0.00003
|
|
NM_000051.4(ATM):c.2449G>C (p.Asp817His)
|
rs587778067
|
0.00003
|
|
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00003
|
|
NM_000051.4(ATM):c.3300G>A (p.Thr1100=)
|
rs587780621
|
0.00003
|
|
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr)
|
rs769980220
|
0.00003
|
|
NM_000051.4(ATM):c.4437-7A>G
|
rs370354306
|
0.00003
|
|
NM_000051.4(ATM):c.6234C>T (p.Ser2078=)
|
rs569483748
|
0.00003
|
|
NM_000051.4(ATM):c.6465G>A (p.Val2155=)
|
rs140423883
|
0.00003
|
|
NM_000051.4(ATM):c.6888A>T (p.Ala2296=)
|
rs200735689
|
0.00003
|
|
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile)
|
rs782702847
|
0.00003
|
|
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met)
|
rs139902461
|
0.00003
|
|
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val)
|
rs782237314
|
0.00003
|
|
NM_000053.4(ATP7B):c.1543+14G>A
|
rs770362811
|
0.00003
|
|
NM_000053.4(ATP7B):c.1554C>T (p.Ser518=)
|
rs551051945
|
0.00003
|
|
NM_000053.4(ATP7B):c.1686C>T (p.Ser562=)
|
rs138962570
|
0.00003
|
|
NM_000053.4(ATP7B):c.2447+8A>G
|
rs747586752
|
0.00003
|
|
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=)
|
rs570594838
|
0.00003
|
|
NM_000053.4(ATP7B):c.3189G>A (p.Ala1063=)
|
rs370527611
|
0.00003
|
|
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)
|
rs80358442
|
0.00003
|
|
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His)
|
rs760674518
|
0.00003
|
|
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His)
|
rs774884290
|
0.00003
|
|
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu)
|
rs749856222
|
0.00003
|
|
NM_000069.3(CACNA1S):c.409G>A (p.Val137Met)
|
rs753195502
|
0.00003
|
|
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala)
|
rs141521945
|
0.00003
|
|
NM_000069.3(CACNA1S):c.670A>G (p.Lys224Glu)
|
rs374763528
|
0.00003
|
|
NM_000070.3(CAPN3):c.1077G>A (p.Pro359=)
|
rs759384108
|
0.00003
|
|
NM_000071.3(CBS):c.924C>T (p.Tyr308=)
|
rs149809170
|
0.00003
|
|
NM_000079.4(CHRNA1):c.912C>T (p.Phe304=)
|
rs373005571
|
0.00003
|
|
NM_000081.4(LYST):c.10758C>T (p.Cys3586=)
|
rs145136281
|
0.00003
|
|
NM_000081.4(LYST):c.4566A>C (p.Ala1522=)
|
rs142344106
|
0.00003
|
|
NM_000081.4(LYST):c.4632C>T (p.Ser1544=)
|
rs373930104
|
0.00003
|
|
NM_000088.4(COL1A1):c.1532G>A (p.Arg511His)
|
rs780422688
|
0.00003
|
|
NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=)
|
rs574331101
|
0.00003
|
|
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile)
|
rs574102153
|
0.00003
|
|
NM_000094.4(COL7A1):c.1186A>T (p.Ser396Cys)
|
rs202192755
|
0.00003
|
|
NM_000094.4(COL7A1):c.1936G>C (p.Asp646His)
|
rs765663530
|
0.00003
|
|
NM_000094.4(COL7A1):c.2045G>A (p.Arg682Gln)
|
rs772900092
|
0.00003
|
|
NM_000094.4(COL7A1):c.2100A>C (p.Ser700=)
|
rs756201098
|
0.00003
|
|
NM_000094.4(COL7A1):c.3064G>A (p.Val1022Ile)
|
rs562548943
|
0.00003
|
|
NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=)
|
rs761393259
|
0.00003
|
|
NM_000094.4(COL7A1):c.6730C>G (p.Pro2244Ala)
|
rs772457877
|
0.00003
|
|
NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=)
|
rs763764765
|
0.00003
|
|
NM_000094.4(COL7A1):c.8505C>T (p.Arg2835=)
|
rs748854889
|
0.00003
|
|
NM_000094.4(COL7A1):c.8783G>A (p.Arg2928His)
|
rs758740269
|
0.00003
|
|
NM_000096.4(CP):c.1575A>G (p.Val525=)
|
rs760634973
|
0.00003
|
|
NM_000098.3(CPT2):c.852C>T (p.Pro284=)
|
rs138575554
|
0.00003
|
|
NM_000098.3(CPT2):c.985G>T (p.Asp329Tyr)
|
rs750191719
|
0.00003
|
|
NM_000100.4(CSTB):c.9C>T (p.Cys3=)
|
rs555930471
|
0.00003
|
|
NM_000117.3(EMD):c.173C>T (p.Ser58Phe)
|
rs781797234
|
0.00003
|
|
NM_000117.3(EMD):c.449+5G>A
|
rs370840449
|
0.00003
|
|
NM_000122.2(ERCC3):c.658-7C>G
|
rs200361738
|
0.00003
|
|
NM_000123.4(ERCC5):c.2898C>T (p.Phe966=)
|
rs535585040
|
0.00003
|
|
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile)
|
rs201813523
|
0.00003
|
|
NM_000126.4(ETFA):c.720A>G (p.Gln240=)
|
rs756864231
|
0.00003
|
|
NM_000128.4(F11):c.1683C>T (p.Ala561=)
|
rs770473069
|
0.00003
|
|
NM_000130.5(F5):c.1034G>A (p.Arg345Gln)
|
rs201078171
|
0.00003
|
|
NM_000130.5(F5):c.738A>G (p.Thr246=)
|
rs375739973
|
0.00003
|
|
NM_000135.4(FANCA):c.1209G>A (p.Ala403=)
|
rs773318145
|
0.00003
|
|
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp)
|
rs143083764
|
0.00003
|
|
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln)
|
rs778093769
|
0.00003
|
|
NM_000135.4(FANCA):c.1815G>A (p.Glu605=)
|
rs773613283
|
0.00003
|
|
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly)
|
rs1306842168
|
0.00003
|
|
NM_000135.4(FANCA):c.2958C>T (p.Asn986=)
|
rs368953287
|
0.00003
|
|
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His)
|
rs779268656
|
0.00003
|
|
NM_000135.4(FANCA):c.3349-11C>A
|
rs1190325114
|
0.00003
|
|
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)
|
rs759303096
|
0.00003
|
|
NM_000135.4(FANCA):c.361G>A (p.Val121Met)
|
rs780035612
|
0.00003
|
|
NM_000135.4(FANCA):c.3627-8T>G
|
rs77877981
|
0.00003
|
|
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu)
|
rs774448881
|
0.00003
|
|
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile)
|
rs587778323
|
0.00003
|
|
NM_000137.4(FAH):c.1029G>A (p.Gly343=)
|
rs772334351
|
0.00003
|
|
NM_000137.4(FAH):c.10A>C (p.Ile4Leu)
|
rs754336457
|
0.00003
|
|
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe)
|
rs767293952
|
0.00003
|
|
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)
|
rs377621293
|
0.00003
|
|
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly)
|
rs754919275
|
0.00003
|
|
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val)
|
rs756754760
|
0.00003
|
|
NM_000141.5(FGFR2):c.2195+7G>A
|
rs377397478
|
0.00003
|
|
NM_000142.5(FGFR3):c.1002C>T (p.Ala334=)
|
rs376787929
|
0.00003
|
|
NM_000142.5(FGFR3):c.1596C>T (p.Ile532=)
|
rs528979086
|
0.00003
|
|
NM_000143.4(FH):c.40C>T (p.Leu14Phe)
|
rs981562354
|
0.00003
|
|
NM_000151.4(G6PC1):c.993G>A (p.Ala331=)
|
rs369238258
|
0.00003
|
|
NM_000152.5(GAA):c.1075+12T>G
|
rs370842677
|
0.00003
|
|
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys)
|
rs189402693
|
0.00003
|
|
NM_000152.5(GAA):c.2154C>T (p.Val718=)
|
rs1800311
|
0.00003
|
|
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338
|
0.00003
|
|
NM_000152.5(GAA):c.277G>A (p.Ala93Thr)
|
rs142481170
|
0.00003
|
|
NM_000152.5(GAA):c.955+14C>A
|
rs756921041
|
0.00003
|
|
NM_000153.4(GALC):c.192C>T (p.Gly64=)
|
rs753287800
|
0.00003
|
|
NM_000158.4(GBE1):c.143+8C>G
|
rs750447886
|
0.00003
|
|
NM_000159.4(GCDH):c.876C>T (p.Asn292=)
|
rs1438245420
|
0.00003
|
|
NM_000166.6(GJB1):c.297A>G (p.Gln99=)
|
rs1213746899
|
0.00003
|
|
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)
|
rs780335726
|
0.00003
|
|
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn)
|
rs748095080
|
0.00003
|
|
NM_000170.3(GLDC):c.1453T>C (p.Leu485=)
|
rs760562478
|
0.00003
|
|
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn)
|
rs770826242
|
0.00003
|
|
NM_000187.4(HGD):c.765T>C (p.Ala255=)
|
rs747764475
|
0.00003
|
|
NM_000215.4(JAK3):c.3213C>T (p.His1071=)
|
rs757910571
|
0.00003
|
|
NM_000215.4(JAK3):c.3267C>T (p.Ser1089=)
|
rs138593705
|
0.00003
|
|
NM_000217.3(KCNA1):c.1464G>A (p.Lys488=)
|
rs147828649
|
0.00003
|
|
NM_000219.6(KCNE1):c.107G>A (p.Arg36His)
|
rs199473351
|
0.00003
|
|
NM_000235.4(LIPA):c.111+13A>G
|
rs375237841
|
0.00003
|
|
NM_000237.3(LPL):c.112G>A (p.Glu38Lys)
|
rs557015233
|
0.00003
|
|
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)
|
rs104895082
|
0.00003
|
|
NM_000243.3(MEFV):c.1533G>A (p.Ala511=)
|
rs771061550
|
0.00003
|
|
NM_000243.3(MEFV):c.1803T>A (p.Ile601=)
|
rs779572391
|
0.00003
|
|
NM_000243.3(MEFV):c.456G>A (p.Gly152=)
|
rs368333568
|
0.00003
|
|
NM_000246.4(CIITA):c.2409G>A (p.Ala803=)
|
rs755302593
|
0.00003
|
|
NM_000246.4(CIITA):c.2442C>T (p.His814=)
|
rs746490057
|
0.00003
|
|
NM_000246.4(CIITA):c.3357C>T (p.His1119=)
|
rs754706834
|
0.00003
|
|
NM_000246.4(CIITA):c.772+9G>A
|
rs750572482
|
0.00003
|
|
NM_000246.4(CIITA):c.948G>A (p.Thr316=)
|
rs369971838
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3191-7C>T
|
rs373012629
|
0.00003
|
|
NM_000256.3(MYBPC3):c.927-10C>T
|
rs201078659
|
0.00003
|
|
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr)
|
rs782726270
|
0.00003
|
|
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)
|
rs397516302
|
0.00003
|
|
NM_000260.4(MYO7A):c.3745C>T (p.Leu1249=)
|
rs569293775
|
0.00003
|
|
NM_000260.4(MYO7A):c.4009G>A (p.Glu1337Lys)
|
rs369375331
|
0.00003
|
|
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=)
|
rs376743356
|
0.00003
|
|
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val)
|
rs111033511
|
0.00003
|
|
NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val)
|
rs574917232
|
0.00003
|
|
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu)
|
rs572959359
|
0.00003
|
|
NM_000264.5(PTCH1):c.139C>T (p.Arg47Trp)
|
rs138729094
|
0.00003
|
|
NM_000264.5(PTCH1):c.2184G>A (p.Thr728=)
|
rs201103723
|
0.00003
|
|
NM_000264.5(PTCH1):c.2989A>G (p.Ile997Val)
|
rs774440323
|
0.00003
|
|
NM_000264.5(PTCH1):c.46G>A (p.Gly16Ser)
|
rs1057515721
|
0.00003
|
|
NM_000266.4(NDP):c.58G>A (p.Gly20Arg)
|
rs200594881
|
0.00003
|
|
NM_000271.5(NPC1):c.2130+10C>G
|
rs776389852
|
0.00003
|
|
NM_000271.5(NPC1):c.2820G>A (p.Ser940=)
|
rs754664476
|
0.00003
|
|
NM_000271.5(NPC1):c.2832C>T (p.Asp944=)
|
rs780019300
|
0.00003
|
|
NM_000282.4(PCCA):c.1929C>T (p.Ala643=)
|
rs772945583
|
0.00003
|
|
NM_000288.4(PEX7):c.576C>T (p.Ile192=)
|
rs776411851
|
0.00003
|
|
NM_000288.4(PEX7):c.903+8A>G
|
rs779919482
|
0.00003
|
|
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=)
|
rs372579008
|
0.00003
|
|
NM_000302.4(PLOD1):c.303-10C>T
|
rs750987724
|
0.00003
|
|
NM_000302.4(PLOD1):c.813C>T (p.Asp271=)
|
rs373471550
|
0.00003
|
|
NM_000303.3(PMM2):c.597C>T (p.Asp199=)
|
rs376412367
|
0.00003
|
|
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys)
|
rs142459706
|
0.00003
|
|
NM_000306.4(POU1F1):c.456T>C (p.Asn152=)
|
rs886058914
|
0.00003
|
|
NM_000308.4(CTSA):c.692+13G>A
|
rs371053390
|
0.00003
|
|
NM_000310.4(PPT1):c.282A>G (p.Thr94=)
|
rs753828114
|
0.00003
|
|
NM_000314.8(PTEN):c.-799G>C
|
rs587779992
|
0.00003
|
|
NM_000314.8(PTEN):c.159A>G (p.Val53=)
|
rs189583426
|
0.00003
|
|
NM_000316.3(PTH1R):c.1728T>C (p.Ser576=)
|
rs201013164
|
0.00003
|
|
NM_000321.3(RB1):c.1814+3A>G
|
rs376886420
|
0.00003
|
|
NM_000334.4(SCN4A):c.354C>T (p.Ser118=)
|
rs753453769
|
0.00003
|
|
NM_000335.5(SCN5A):c.21T>A (p.Pro7=)
|
rs587781157
|
0.00003
|
|
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met)
|
rs199473187
|
0.00003
|
|
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr)
|
rs137854603
|
0.00003
|
|
NM_000338.3(SLC12A1):c.1149C>T (p.Val383=)
|
rs368339306
|
0.00003
|
|
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser)
|
rs200592320
|
0.00003
|
|
NM_000350.3(ABCA4):c.1937+15C>T
|
rs774567553
|
0.00003
|
|
NM_000350.3(ABCA4):c.2311A>T (p.Thr771Ser)
|
rs758090662
|
0.00003
|
|
NM_000352.6(ABCC8):c.1332+9T>C
|
rs775059899
|
0.00003
|
|
NM_000352.6(ABCC8):c.1407A>C (p.Leu469=)
|
rs751643248
|
0.00003
|
|
NM_000352.6(ABCC8):c.2235C>T (p.Ser745=)
|
rs200708414
|
0.00003
|
|
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)
|
rs540122589
|
0.00003
|
|
NM_000355.4(TCN2):c.882C>T (p.Pro294=)
|
rs142689742
|
0.00003
|
|
NM_000359.3(TGM1):c.248G>A (p.Arg83Gln)
|
rs771051927
|
0.00003
|
|
NM_000360.4(TH):c.171C>T (p.Ala57=)
|
rs771152796
|
0.00003
|
|
NM_000360.4(TH):c.225G>A (p.Glu75=)
|
rs558597025
|
0.00003
|
|
NM_000360.4(TH):c.365G>A (p.Arg122Gln)
|
rs201093528
|
0.00003
|
|
NM_000362.5(TIMP3):c.459G>A (p.Leu153=)
|
rs757458960
|
0.00003
|
|
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln)
|
rs1336228562
|
0.00003
|
|
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly)
|
rs768624733
|
0.00003
|
|
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr)
|
rs1007335343
|
0.00003
|
|
NM_000368.5(TSC1):c.941C>T (p.Thr314Met)
|
rs373454700
|
0.00003
|
|
NM_000370.3(TTPA):c.553-6C>T
|
rs761911043
|
0.00003
|
|
NM_000371.4(TTR):c.70-9T>C
|
rs764059061
|
0.00003
|
|
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu)
|
rs782636781
|
0.00003
|
|
NM_000383.4(AIRE):c.1327G>A (p.Val443Met)
|
rs557522986
|
0.00003
|
|
NM_000383.4(AIRE):c.1347C>T (p.Cys449=)
|
rs367619299
|
0.00003
|
|
NM_000383.4(AIRE):c.1400+7G>C
|
rs781592443
|
0.00003
|
|
NM_000383.4(AIRE):c.1563C>T (p.Ser521=)
|
rs746873146
|
0.00003
|
|
NM_000383.4(AIRE):c.1620G>A (p.Ala540=)
|
rs372219460
|
0.00003
|
|
NM_000384.3(APOB):c.13586A>G (p.His4529Arg)
|
rs958014928
|
0.00003
|
|
NM_000384.3(APOB):c.13607C>T (p.Thr4536Met)
|
rs748727595
|
0.00003
|
|
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys)
|
rs143425834
|
0.00003
|
|
NM_000384.3(APOB):c.218C>A (p.Ala73Asp)
|
rs377171241
|
0.00003
|
|
NM_000384.3(APOB):c.3851G>A (p.Arg1284Gln)
|
rs372154910
|
0.00003
|
|
NM_000384.3(APOB):c.4352G>T (p.Gly1451Val)
|
rs777471630
|
0.00003
|
|
NM_000384.3(APOB):c.4954A>C (p.Ile1652Leu)
|
rs776008744
|
0.00003
|
|
NM_000384.3(APOB):c.5164G>A (p.Asp1722Asn)
|
rs757793421
|
0.00003
|
|
NM_000384.3(APOB):c.598G>A (p.Ala200Thr)
|
rs763878189
|
0.00003
|
|
NM_000384.3(APOB):c.7565G>A (p.Arg2522Gln)
|
rs781243278
|
0.00003
|
|
NM_000384.3(APOB):c.8258C>G (p.Pro2753Arg)
|
rs765290152
|
0.00003
|
|
NM_000384.3(APOB):c.8299C>T (p.Pro2767Ser)
|
rs138465008
|
0.00003
|
|
NM_000384.3(APOB):c.8693T>C (p.Leu2898Pro)
|
rs376974746
|
0.00003
|
|
NM_000384.3(APOB):c.8840G>C (p.Ser2947Thr)
|
rs183475426
|
0.00003
|
|
NM_000384.3(APOB):c.889C>T (p.Arg297Cys)
|
rs766376456
|
0.00003
|
|
NM_000384.3(APOB):c.9077A>T (p.Asn3026Ile)
|
rs770981667
|
0.00003
|
|
NM_000391.4(TPP1):c.891G>T (p.Arg297=)
|
rs750527536
|
0.00003
|
|
NM_000392.5(ABCC2):c.2747+10C>T
|
rs772329652
|
0.00003
|
|
NM_000410.4(HFE):c.-7T>C
|
rs369807746
|
0.00003
|
|
NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln)
|
rs759973830
|
0.00003
|
|
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn)
|
rs375640462
|
0.00003
|
|
NM_000426.4(LAMA2):c.5477G>A (p.Arg1826Gln)
|
rs373614496
|
0.00003
|
|
NM_000433.4(NCF2):c.837G>A (p.Thr279=)
|
rs942486247
|
0.00003
|
|
NM_000435.3(NOTCH3):c.3352A>T (p.Asn1118Tyr)
|
rs376950447
|
0.00003
|
|
NM_000441.2(SLC26A4):c.1545-7del
|
rs727503427
|
0.00003
|
|
NM_000443.4(ABCB4):c.2295T>C (p.Ser765=)
|
rs371013005
|
0.00003
|
|
NM_000443.4(ABCB4):c.525G>A (p.Thr175=)
|
rs558416191
|
0.00003
|
|
NM_000455.5(STK11):c.1100C>T (p.Thr367Met)
|
rs587782835
|
0.00003
|
|
NM_000455.5(STK11):c.1130C>T (p.Ala377Val)
|
rs199973552
|
0.00003
|
|
NM_000455.5(STK11):c.1168G>C (p.Val390Leu)
|
rs374078532
|
0.00003
|
|
NM_000455.5(STK11):c.1258G>T (p.Ala420Ser)
|
rs762482152
|
0.00003
|
|
NM_000455.5(STK11):c.374+9T>A
|
rs762297795
|
0.00003
|
|
NM_000460.4(THPO):c.183G>T (p.Leu61=)
|
rs200666378
|
0.00003
|
|
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=)
|
rs776231556
|
0.00003
|
|
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro)
|
rs753823218
|
0.00003
|
|
NM_000478.6(ALPL):c.1479C>T (p.Asn493=)
|
rs759758484
|
0.00003
|
|
NM_000481.4(AMT):c.583G>A (p.Val195Met)
|
rs372496075
|
0.00003
|
|
NM_000484.4(APP):c.1458+10G>A
|
rs201290605
|
0.00003
|
|
NM_000487.6(ARSA):c.1107+9G>A
|
rs768146306
|
0.00003
|
|
NM_000487.6(ARSA):c.225-4G>A
|
rs372937480
|
0.00003
|
|
NM_000487.6(ARSA):c.369C>T (p.Ala123=)
|
rs886057657
|
0.00003
|
|
NM_000488.4(SERPINC1):c.594T>C (p.Tyr198=)
|
rs183416252
|
0.00003
|
|
NM_000489.6(ATRX):c.2001G>A (p.Pro667=)
|
rs139997330
|
0.00003
|
|
NM_000489.6(ATRX):c.4210A>G (p.Thr1404Ala)
|
rs781835568
|
0.00003
|
|
NM_000492.4(CFTR):c.1585-19T>C
|
rs778457306
|
0.00003
|
|
NM_000497.4(CYP11B1):c.395+6C>T
|
rs553707049
|
0.00003
|
|
NM_000498.3(CYP11B2):c.1122-4C>T
|
rs1361290853
|
0.00003
|
|
NM_000498.3(CYP11B2):c.955-10G>T
|
rs761292212
|
0.00003
|
|
NM_000518.5(HBB):c.316-12T>C
|
rs781604042
|
0.00003
|
|
NM_000518.5(HBB):c.316-177A>G
|
rs964085975
|
0.00003
|
|
NM_000518.5(HBB):c.316-28G>A
|
rs771736852
|
0.00003
|
|
NM_000527.5(LDLR):c.1060+9C>T
|
rs540073140
|
0.00003
|
|
NM_000527.5(LDLR):c.1221C>T (p.His407=)
|
rs778424518
|
0.00003
|
|
NM_000527.5(LDLR):c.186G>A (p.Thr62=)
|
rs55958434
|
0.00003
|
|
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)
|
rs551747280
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1779A>G (p.Pro593=)
|
rs146778702
|
0.00003
|
|
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=)
|
rs746514019
|
0.00003
|
|
NM_000540.3(RYR1):c.10053G>A (p.Pro3351=)
|
rs774096421
|
0.00003
|
|
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe)
|
rs752477271
|
0.00003
|
|
NM_000540.3(RYR1):c.11193+15C>G
|
rs370928637
|
0.00003
|
|
NM_000540.3(RYR1):c.1140G>A (p.Glu380=)
|
rs35189056
|
0.00003
|
|
NM_000540.3(RYR1):c.12840G>T (p.Ala4280=)
|
rs1292456827
|
0.00003
|
|
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu)
|
rs867851900
|
0.00003
|
|
NM_000540.3(RYR1):c.14601C>T (p.Ser4867=)
|
rs370469515
|
0.00003
|
|
NM_000540.3(RYR1):c.2937G>A (p.Ala979=)
|
rs775442275
|
0.00003
|
|
NM_000540.3(RYR1):c.3179-16C>T
|
rs982271145
|
0.00003
|
|
NM_000540.3(RYR1):c.537+13G>A
|
rs754569485
|
0.00003
|
|
NM_000540.3(RYR1):c.6078G>A (p.Glu2026=)
|
rs201310026
|
0.00003
|
|
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser)
|
rs201834803
|
0.00003
|
|
NM_000540.3(RYR1):c.6318C>A (p.Ala2106=)
|
rs769443054
|
0.00003
|
|
NM_000540.3(RYR1):c.6813G>A (p.Thr2271=)
|
rs147786842
|
0.00003
|
|
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln)
|
rs201584482
|
0.00003
|
|
NM_000540.3(RYR1):c.7755C>T (p.Thr2585=)
|
rs768702294
|
0.00003
|
|
NM_000540.3(RYR1):c.800+7C>T
|
rs762118960
|
0.00003
|
|
NM_000540.3(RYR1):c.8112C>T (p.Cys2704=)
|
rs763722972
|
0.00003
|
|
NM_000540.3(RYR1):c.9624G>T (p.Pro3208=)
|
rs552470353
|
0.00003
|
|
NM_000540.3(RYR1):c.9895G>A (p.Gly3299Ser)
|
rs372203483
|
0.00003
|
|
NM_000546.6(TP53):c.329G>A (p.Arg110His)
|
rs11540654
|
0.00003
|
|
NM_000546.6(TP53):c.509C>T (p.Thr170Met)
|
rs779000871
|
0.00003
|
|
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys)
|
rs45517148
|
0.00003
|
|
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val)
|
rs45517249
|
0.00003
|
|
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys)
|
rs796053492
|
0.00003
|
|
NM_000548.5(TSC2):c.325G>A (p.Val109Met)
|
rs369932305
|
0.00003
|
|
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe)
|
rs759004251
|
0.00003
|
|
NM_000548.5(TSC2):c.5260-1G>C
|
rs1057518103
|
0.00003
|
|
NM_000548.5(TSC2):c.673G>A (p.Val225Met)
|
rs142919353
|
0.00003
|
|
NM_000548.5(TSC2):c.922C>T (p.Arg308Trp)
|
rs201144475
|
0.00003
|
|
NM_000553.6(WRN):c.1296C>T (p.Asn432=)
|
rs772082980
|
0.00003
|
|
NM_000574.5(CD55):c.1089G>A (p.Thr363=)
|
rs767750936
|
0.00003
|
|
NM_000642.3(AGL):c.2950-5T>G
|
rs760229683
|
0.00003
|
|
NM_000642.3(AGL):c.3345A>T (p.Gly1115=)
|
rs758265909
|
0.00003
|
|
NM_000687.4(AHCY):c.29-4G>A
|
rs774846394
|
0.00003
|
|
NM_000687.4(AHCY):c.445+11C>T
|
rs375253690
|
0.00003
|
|
NM_000709.4(BCKDHA):c.108+12G>A
|
rs780834493
|
0.00003
|
|
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=)
|
rs201366184
|
0.00003
|
|
NM_000709.4(BCKDHA):c.633G>A (p.Thr211=)
|
rs750729027
|
0.00003
|
|
NM_000709.4(BCKDHA):c.726T>C (p.Ser242=)
|
rs750023394
|
0.00003
|
|
NM_000709.4(BCKDHA):c.819G>T (p.Thr273=)
|
rs201991385
|
0.00003
|
|
NM_000709.4(BCKDHA):c.891C>T (p.Arg297=)
|
rs187669174
|
0.00003
|
|
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn)
|
rs373503739
|
0.00003
|
|
NM_000789.4(ACE):c.3226G>T (p.Val1076Leu)
|
rs534480370
|
0.00003
|
|
NM_000875.5(IGF1R):c.1680G>A (p.Lys560=)
|
rs754035007
|
0.00003
|
|
NM_000875.5(IGF1R):c.2745G>A (p.Ser915=)
|
rs757589571
|
0.00003
|
|
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu)
|
rs749707062
|
0.00003
|
|
NM_001002755.4(NFU1):c.702G>A (p.Glu234=)
|
rs561482249
|
0.00003
|
|
NM_001003722.2(GLE1):c.1964+7G>A
|
rs200856711
|
0.00003
|
|
NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg)
|
rs755962512
|
0.00003
|
|
NM_001003841.3(SLC6A19):c.1017-13A>G
|
rs202017164
|
0.00003
|
|
NM_001005361.3(DNM2):c.1423-9C>G
|
rs371006369
|
0.00003
|
|
NM_001005361.3(DNM2):c.162-9C>A
|
rs200736669
|
0.00003
|
|
NM_001008216.2(GALE):c.988+7G>A
|
rs200182186
|
0.00003
|
|
NM_001025295.3(IFITM5):c.8C>T (p.Thr3Met)
|
rs376963969
|
0.00003
|
|
NM_001032386.2(SUOX):c.1137A>G (p.Lys379=)
|
rs759992645
|
0.00003
|
|
NM_001034850.3(RETREG1):c.750G>T (p.Leu250=)
|
rs767329180
|
0.00003
|
|
NM_001034853.2(RPGR):c.1099C>G (p.Pro367Ala)
|
rs769641256
|
0.00003
|
|
NM_001035.3(RYR2):c.11877G>A (p.Ser3959=)
|
rs754610647
|
0.00003
|
|
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=)
|
rs763374929
|
0.00003
|
|
NM_001035.3(RYR2):c.1241G>A (p.Arg414His)
|
rs371121679
|
0.00003
|
|
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)
|
rs753733164
|
0.00003
|
|
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=)
|
rs548313130
|
0.00003
|
|
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu)
|
rs1019112544
|
0.00003
|
|
NM_001035.3(RYR2):c.837G>A (p.Thr279=)
|
rs769682840
|
0.00003
|
|
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=)
|
rs755520825
|
0.00003
|
|
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg)
|
rs760379293
|
0.00003
|
|
NM_001040108.2(MLH3):c.3405C>T (p.Ser1135=)
|
rs746155226
|
0.00003
|
|
NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=)
|
rs138241682
|
0.00003
|
|
NM_001040716.2(PC):c.1530C>T (p.Asn510=)
|
rs755162836
|
0.00003
|
|
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile)
|
rs201796252
|
0.00003
|
|
NM_001040716.2(PC):c.3483T>C (p.His1161=)
|
rs190223302
|
0.00003
|
|
NM_001042472.3(ABHD12):c.317-10T>A
|
rs768757901
|
0.00003
|
|
NM_001042492.3(NF1):c.100G>A (p.Val34Ile)
|
rs772995929
|
0.00003
|
|
NM_001042492.3(NF1):c.1308G>A (p.Ser436=)
|
rs765425127
|
0.00003
|
|
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)
|
rs779727341
|
0.00003
|
|
NM_001042492.3(NF1):c.178A>G (p.Thr60Ala)
|
rs546729596
|
0.00003
|
|
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)
|
rs146641724
|
0.00003
|
|
NM_001042492.3(NF1):c.4835+5G>C
|
rs786201306
|
0.00003
|
|
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala)
|
rs370209920
|
0.00003
|
|
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln)
|
rs560262404
|
0.00003
|
|
NM_001042492.3(NF1):c.8216T>C (p.Ile2739Thr)
|
rs752541243
|
0.00003
|
|
NM_001042492.3(NF1):c.8479G>T (p.Ala2827Ser)
|
rs199878086
|
0.00003
|
|
NM_001042492.3(NF1):c.864G>C (p.Val288=)
|
rs201181517
|
0.00003
|
|
NM_001042702.5(PJVK):c.212-12C>A
|
rs199967536
|
0.00003
|
|
NM_001065.4(TNFRSF1A):c.492C>T (p.Thr164=)
|
rs373422284
|
0.00003
|
|
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr)
|
rs373418195
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.1374C>T (p.Ile458=)
|
rs775722631
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.651C>T (p.Ala217=)
|
rs4646837
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.663C>T (p.Ala221=)
|
rs760461822
|
0.00003
|
|
NM_001080414.4(CCDC88C):c.4113-19C>T
|
rs560507685
|
0.00003
|
|
NM_001080517.3(SETD5):c.2908G>A (p.Val970Met)
|
rs766037213
|
0.00003
|
|
NM_001082971.2(DDC):c.6C>T (p.Asn2=)
|
rs749246611
|
0.00003
|
|
NM_001083962.2(TCF4):c.1113G>A (p.Ser371=)
|
rs148308964
|
0.00003
|
|
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr)
|
rs200889338
|
0.00003
|
|
NM_001083962.2(TCF4):c.903C>T (p.Asn301=)
|
rs781392344
|
0.00003
|
|
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=)
|
rs371410845
|
0.00003
|
|
NM_001100913.3(PACS2):c.1401G>A (p.Gln467=)
|
rs782775675
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.228C>G (p.Asp76Glu)
|
rs777431652
|
0.00003
|
|
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile)
|
rs797045579
|
0.00003
|
|
NM_001113378.2(FANCI):c.1699-11C>T
|
rs753750358
|
0.00003
|
|
NM_001114753.3(ENG):c.405C>G (p.Thr135=)
|
rs773521685
|
0.00003
|
|
NM_001114753.3(ENG):c.589C>T (p.Arg197Trp)
|
rs780987528
|
0.00003
|
|
NM_001114753.3(ENG):c.900G>A (p.Leu300=)
|
rs140155568
|
0.00003
|
|
NM_001122659.3(EDNRB):c.777C>T (p.Pro259=)
|
rs375637651
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys)
|
rs375210532
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)
|
rs563345694
|
0.00003
|
|
NM_001127511.3(APC):c.71C>T (p.Ser24Phe)
|
rs770241997
|
0.00003
|
|
NM_001128840.3(CACNA1D):c.4111-8C>G
|
rs751553150
|
0.00003
|
|
NM_001130823.3(DNMT1):c.3117-4G>A
|
rs781402268
|
0.00003
|
|
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=)
|
rs754177085
|
0.00003
|
|
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile)
|
rs148925399
|
0.00003
|
|
NM_001130987.2(DYSF):c.558A>G (p.Thr186=)
|
rs781732915
|
0.00003
|
|
NM_001130987.2(DYSF):c.5643-12A>G
|
rs375507062
|
0.00003
|
|
NM_001130987.2(DYSF):c.760-8G>C
|
rs748159785
|
0.00003
|
|
NM_001134363.3(RBM20):c.1066A>C (p.Thr356Pro)
|
rs1021465138
|
0.00003
|
|
NM_001134363.3(RBM20):c.1429+10G>T
|
rs778742738
|
0.00003
|
|
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile)
|
rs369747752
|
0.00003
|
|
NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp)
|
rs199830512
|
0.00003
|
|
NM_001134363.3(RBM20):c.3226G>T (p.Ala1076Ser)
|
rs780673583
|
0.00003
|
|
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg)
|
rs543478618
|
0.00003
|
|
NM_001134363.3(RBM20):c.811G>A (p.Gly271Arg)
|
rs989951034
|
0.00003
|
|
NM_001134407.3(GRIN2A):c.3578T>G (p.Leu1193Trp)
|
rs75761674
|
0.00003
|
|
NM_001134407.3(GRIN2A):c.3854G>A (p.Arg1285Lys)
|
rs367543132
|
0.00003
|
|
NM_001142800.2(EYS):c.1314A>G (p.Pro438=)
|
rs375043207
|
0.00003
|
|
NM_001142800.2(EYS):c.3164+8T>C
|
rs1385606496
|
0.00003
|
|
NM_001142800.2(EYS):c.5645-8C>T
|
rs886044616
|
0.00003
|
|
NM_001142800.2(EYS):c.6726-7C>T
|
rs886782734
|
0.00003
|
|
NM_001142800.2(EYS):c.8163A>G (p.Gln2721=)
|
rs370845590
|
0.00003
|
|
NM_001144967.3(NEDD4L):c.1377+7C>T
|
rs372739641
|
0.00003
|
|
NM_001145358.2(SIN3A):c.2852-6C>T
|
rs760515812
|
0.00003
|
|
NM_001145809.2(MYH14):c.3884G>A (p.Arg1295Gln)
|
rs377014092
|
0.00003
|
|
NM_001145809.2(MYH14):c.4903G>A (p.Glu1635Lys)
|
rs140157424
|
0.00003
|
|
NM_001160372.4(TRAPPC9):c.1768+7C>T
|
rs587780485
|
0.00003
|
|
NM_001160372.4(TRAPPC9):c.3288G>A (p.Pro1096=)
|
rs570688248
|
0.00003
|
|
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met)
|
rs200440843
|
0.00003
|
|
NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser)
|
rs563967757
|
0.00003
|
|
NM_001164508.2(NEB):c.104C>T (p.Thr35Met)
|
rs749153659
|
0.00003
|
|
NM_001164508.2(NEB):c.10925T>C (p.Ile3642Thr)
|
rs201614105
|
0.00003
|
|
NM_001164508.2(NEB):c.11361G>A (p.Pro3787=)
|
rs200043736
|
0.00003
|
|
NM_001164508.2(NEB):c.11671G>A (p.Glu3891Lys)
|
rs753450456
|
0.00003
|
|
NM_001164508.2(NEB):c.11683A>G (p.Arg3895Gly)
|
rs1015014078
|
0.00003
|
|
NM_001164508.2(NEB):c.11806-7C>A
|
rs779713133
|
0.00003
|
|
NM_001164508.2(NEB):c.11915T>G (p.Leu3972Arg)
|
rs769145449
|
0.00003
|
|
NM_001164508.2(NEB):c.125A>G (p.Tyr42Cys)
|
rs756162358
|
0.00003
|
|
NM_001164508.2(NEB):c.1339A>G (p.Met447Val)
|
rs774284999
|
0.00003
|
|
NM_001164508.2(NEB):c.1365+14C>A
|
rs750849844
|
0.00003
|
|
NM_001164508.2(NEB):c.16823C>T (p.Thr5608Met)
|
rs200952733
|
0.00003
|
|
NM_001164508.2(NEB):c.16954A>G (p.Ile5652Val)
|
rs767425744
|
0.00003
|
|
NM_001164508.2(NEB):c.17129A>G (p.Lys5710Arg)
|
rs200501968
|
0.00003
|
|
NM_001164508.2(NEB):c.18074G>A (p.Arg6025His)
|
rs751957350
|
0.00003
|
|
NM_001164508.2(NEB):c.18737A>G (p.His6246Arg)
|
rs760552939
|
0.00003
|
|
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=)
|
rs374874999
|
0.00003
|
|
NM_001164508.2(NEB):c.19082G>A (p.Ser6361Asn)
|
rs768390701
|
0.00003
|
|
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His)
|
rs185999504
|
0.00003
|
|
NM_001164508.2(NEB):c.19801G>A (p.Val6601Met)
|
rs553079055
|
0.00003
|
|
NM_001164508.2(NEB):c.19836C>T (p.Asp6612=)
|
rs371194689
|
0.00003
|
|
NM_001164508.2(NEB):c.20227C>T (p.Arg6743Cys)
|
rs762552898
|
0.00003
|
|
NM_001164508.2(NEB):c.20367+15G>C
|
rs886054931
|
0.00003
|
|
NM_001164508.2(NEB):c.20434A>G (p.Met6812Val)
|
rs370764959
|
0.00003
|
|
NM_001164508.2(NEB):c.20578-8A>G
|
rs368526624
|
0.00003
|
|
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys)
|
rs755165133
|
0.00003
|
|
NM_001164508.2(NEB):c.21604C>T (p.Arg7202Cys)
|
rs200826420
|
0.00003
|
|
NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg)
|
rs200250294
|
0.00003
|
|
NM_001164508.2(NEB):c.22110A>G (p.Pro7370=)
|
rs539800267
|
0.00003
|
|
NM_001164508.2(NEB):c.22429G>A (p.Gly7477Ser)
|
rs764674361
|
0.00003
|
|
NM_001164508.2(NEB):c.22433G>A (p.Arg7478His)
|
rs767207985
|
0.00003
|
|
NM_001164508.2(NEB):c.23149G>C (p.Glu7717Gln)
|
rs766321668
|
0.00003
|
|
NM_001164508.2(NEB):c.23416C>G (p.Gln7806Glu)
|
rs750689059
|
0.00003
|
|
NM_001164508.2(NEB):c.23425C>T (p.Arg7809Trp)
|
rs762220487
|
0.00003
|
|
NM_001164508.2(NEB):c.24640A>G (p.Arg8214Gly)
|
rs772803200
|
0.00003
|
|
NM_001164508.2(NEB):c.24649C>T (p.Arg8217Cys)
|
rs542275170
|
0.00003
|
|
NM_001164508.2(NEB):c.25162C>T (p.Arg8388Cys)
|
rs371600800
|
0.00003
|
|
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)
|
rs749034995
|
0.00003
|
|
NM_001164508.2(NEB):c.25184G>A (p.Arg8395Gln)
|
rs779983347
|
0.00003
|
|
NM_001164508.2(NEB):c.3246G>A (p.Ala1082=)
|
rs372664114
|
0.00003
|
|
NM_001164508.2(NEB):c.3640G>A (p.Glu1214Lys)
|
rs764769462
|
0.00003
|
|
NM_001164508.2(NEB):c.4204A>G (p.Asn1402Asp)
|
rs1219268531
|
0.00003
|
|
NM_001164508.2(NEB):c.448G>A (p.Val150Ile)
|
rs376288418
|
0.00003
|
|
NM_001164508.2(NEB):c.475C>T (p.His159Tyr)
|
rs776746330
|
0.00003
|
|
NM_001164508.2(NEB):c.5121A>G (p.Ala1707=)
|
rs371962475
|
0.00003
|
|
NM_001164508.2(NEB):c.5182G>A (p.Ala1728Thr)
|
rs371639863
|
0.00003
|
|
NM_001164508.2(NEB):c.5828T>C (p.Leu1943Pro)
|
rs531692437
|
0.00003
|
|
NM_001164508.2(NEB):c.5854A>G (p.Met1952Val)
|
rs200649387
|
0.00003
|
|
NM_001164508.2(NEB):c.6135T>C (p.Asp2045=)
|
rs886042654
|
0.00003
|
|
NM_001164508.2(NEB):c.6244G>A (p.Glu2082Lys)
|
rs372667149
|
0.00003
|
|
NM_001164508.2(NEB):c.6400A>G (p.Asn2134Asp)
|
rs751935179
|
0.00003
|
|
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val)
|
rs375256600
|
0.00003
|
|
NM_001164508.2(NEB):c.7252T>A (p.Trp2418Arg)
|
rs780437384
|
0.00003
|
|
NM_001164508.2(NEB):c.7623C>T (p.Ala2541=)
|
rs371570995
|
0.00003
|
|
NM_001164508.2(NEB):c.7627C>T (p.Arg2543Trp)
|
rs368148074
|
0.00003
|
|
NM_001164508.2(NEB):c.8738T>C (p.Ile2913Thr)
|
rs368373064
|
0.00003
|
|
NM_001164508.2(NEB):c.8873C>T (p.Ala2958Val)
|
rs768058972
|
0.00003
|
|
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser)
|
rs139548702
|
0.00003
|
|
NM_001164508.2(NEB):c.9769G>A (p.Asp3257Asn)
|
rs780275367
|
0.00003
|
|
NM_001164688.2(RD3):c.150G>A (p.Ala50=)
|
rs751609154
|
0.00003
|
|
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu)
|
rs139300715
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.1962C>T (p.Ser654=)
|
rs757870828
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.2185-15C>T
|
rs780822241
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.3397+11G>T
|
rs370597983
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.3990C>T (p.Pro1330=)
|
rs535388759
|
0.00003
|
|
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=)
|
rs766317271
|
0.00003
|
|
NM_001171.6(ABCC6):c.179G>A (p.Arg60Gln)
|
rs183648123
|
0.00003
|
|
NM_001174089.2(SLC4A11):c.1668G>A (p.Ala556=)
|
rs368073003
|
0.00003
|
|
NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln)
|
rs550306731
|
0.00003
|
|
NM_001177316.2(SLC34A3):c.458T>C (p.Val153Ala)
|
rs139302994
|
0.00003
|
|
NM_001177316.2(SLC34A3):c.978C>T (p.Ile326=)
|
rs886044633
|
0.00003
|
|
NM_001182.5(ALDH7A1):c.394-15G>A
|
rs766287925
|
0.00003
|
|
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=)
|
rs587784295
|
0.00003
|
|
NM_001190274.2(FBXO11):c.691C>T (p.Pro231Ser)
|
rs373208804
|
0.00003
|
|
NM_001193315.2(VIPAS39):c.1089+8C>G
|
rs371371767
|
0.00003
|
|
NM_001193315.2(VIPAS39):c.246C>T (p.His82=)
|
rs569525220
|
0.00003
|
|
NM_001199397.3(NEK1):c.1500T>C (p.Ala500=)
|
rs776664093
|
0.00003
|
|
NM_001199397.3(NEK1):c.2136C>T (p.Gly712=)
|
rs760404694
|
0.00003
|
|
NM_001205293.3(CACNA1E):c.2518_2529del (p.Leu840_Glu843del)
|
rs1327484784
|
0.00003
|
|
NM_001235.5(SERPINH1):c.565A>G (p.Thr189Ala)
|
rs138784081
|
0.00003
|
|
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=)
|
rs375187216
|
0.00003
|
|
NM_001253852.3(AP4B1):c.1044G>A (p.Val348=)
|
rs763730264
|
0.00003
|
|
NM_001256317.3(TMPRSS3):c.1266C>T (p.Ile422=)
|
rs372469227
|
0.00003
|
|
NM_001256545.2(MEGF10):c.781-15T>C
|
rs767842462
|
0.00003
|
|
NM_001271.4(CHD2):c.881G>T (p.Gly294Val)
|
rs771390521
|
0.00003
|
|
NM_001277115.2(DNAH11):c.2329C>T (p.Leu777Phe)
|
rs1163253626
|
0.00003
|
|
NM_001278064.2(GRM1):c.2026G>A (p.Val676Met)
|
rs752403373
|
0.00003
|
|
NM_001278116.2(L1CAM):c.3322+11G>A
|
rs1372534909
|
0.00003
|
|
NM_001278116.2(L1CAM):c.3523G>A (p.Glu1175Lys)
|
rs1064796541
|
0.00003
|
|
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp)
|
rs201978087
|
0.00003
|
|
NM_001287.6(CLCN7):c.435C>T (p.Asp145=)
|
rs201964194
|
0.00003
|
|
NM_001330.5(CTF1):c.145-10G>A
|
rs397516645
|
0.00003
|
|
NM_001348800.3(ZBTB20):c.10C>T (p.Arg4Trp)
|
rs1003856768
|
0.00003
|
|
NM_001349338.3(FOXP1):c.1344G>A (p.Ser448=)
|
rs143503790
|
0.00003
|
|
NM_001349338.3(FOXP1):c.1902C>T (p.His634=)
|
rs749771909
|
0.00003
|
|
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
|
rs147495853
|
0.00003
|
|
NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=)
|
rs771259156
|
0.00003
|
|
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=)
|
rs200477386
|
0.00003
|
|
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg)
|
rs369793136
|
0.00003
|
|
NM_001367624.2(ZNF469):c.3550G>A (p.Ala1184Thr)
|
rs553460850
|
0.00003
|
|
NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile)
|
rs536239913
|
0.00003
|
|
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met)
|
rs200894344
|
0.00003
|
|
NM_001369.3(DNAH5):c.1435C>T (p.Arg479Cys)
|
rs200494845
|
0.00003
|
|
NM_001369.3(DNAH5):c.1810T>C (p.Ser604Pro)
|
rs769275003
|
0.00003
|
|
NM_001369.3(DNAH5):c.3064G>A (p.Val1022Ile)
|
rs375218798
|
0.00003
|
|
NM_001369.3(DNAH5):c.349G>A (p.Glu117Lys)
|
rs116128702
|
0.00003
|
|
NM_001369.3(DNAH5):c.6859C>T (p.Arg2287Trp)
|
rs747326567
|
0.00003
|
|
NM_001369.3(DNAH5):c.7688T>G (p.Leu2563Arg)
|
rs187551830
|
0.00003
|
|
NM_001369.3(DNAH5):c.7823A>T (p.Asp2608Val)
|
rs189971831
|
0.00003
|
|
NM_001369.3(DNAH5):c.8190G>A (p.Thr2730=)
|
rs752656841
|
0.00003
|
|
NM_001369.3(DNAH5):c.8821-7A>G
|
rs776228125
|
0.00003
|
|
NM_001369369.1(FOXN1):c.1203C>A (p.Pro401=)
|
rs375002692
|
0.00003
|
|
NM_001369369.1(FOXN1):c.1815C>T (p.Ser605=)
|
rs369425799
|
0.00003
|
|
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp)
|
rs566593066
|
0.00003
|
|
NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser)
|
rs587780844
|
0.00003
|
|
NM_001370595.2(COA8):c.476+7G>A
|
rs114895750
|
0.00003
|
|
NM_001374385.1(ATP8B1):c.1071C>T (p.Ile357=)
|
rs775490128
|
0.00003
|
|
NM_001374828.1(ARID1B):c.3009G>A (p.Pro1003=)
|
rs587779742
|
0.00003
|
|
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=)
|
rs767564445
|
0.00003
|
|
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val)
|
rs772070566
|
0.00003
|
|
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn)
|
rs755333803
|
0.00003
|
|
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg)
|
rs774004189
|
0.00003
|
|
NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile)
|
rs377568191
|
0.00003
|
|
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser)
|
rs368339420
|
0.00003
|
|
NM_001378120.1(MBD5):c.961A>G (p.Met321Val)
|
rs369869865
|
0.00003
|
|
NM_001378414.1(HDAC4):c.1458C>T (p.Val486=)
|
rs139841625
|
0.00003
|
|
NM_001378452.1(ITPR1):c.4233G>A (p.Pro1411=)
|
rs373572745
|
0.00003
|
|
NM_001378452.1(ITPR1):c.7272+15T>A
|
rs777868994
|
0.00003
|
|
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)
|
rs199603690
|
0.00003
|
|
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=)
|
rs750362630
|
0.00003
|
|
NM_001378964.1(CDON):c.2763C>T (p.Cys921=)
|
rs146413034
|
0.00003
|
|
NM_001379500.1(COL18A1):c.1221+12C>T
|
rs765348415
|
0.00003
|
|
NM_001379500.1(COL18A1):c.2684-9C>T
|
rs1002126692
|
0.00003
|
|
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=)
|
rs752326108
|
0.00003
|
|
NM_001385079.1(PDE10A):c.2896-8C>A
|
rs754387675
|
0.00003
|
|
NM_001394062.1(MACF1):c.21575G>A (p.Arg7192Gln)
|
rs752117651
|
0.00003
|
|
NM_001395413.1(POR):c.1176C>T (p.Tyr392=)
|
rs782192787
|
0.00003
|
|
NM_001395413.1(POR):c.315C>T (p.Tyr105=)
|
rs782376709
|
0.00003
|
|
NM_001457.4(FLNB):c.1249G>A (p.Val417Met)
|
rs146583950
|
0.00003
|
|
NM_001457.4(FLNB):c.2005A>G (p.Thr669Ala)
|
rs147481678
|
0.00003
|
|
NM_001457.4(FLNB):c.3289G>A (p.Val1097Ile)
|
rs144874876
|
0.00003
|
|
NM_001457.4(FLNB):c.3652G>A (p.Ala1218Thr)
|
rs370716086
|
0.00003
|
|
NM_001457.4(FLNB):c.3792C>A (p.Asp1264Glu)
|
rs200622119
|
0.00003
|
|
NM_001457.4(FLNB):c.3826G>T (p.Ala1276Ser)
|
rs199912711
|
0.00003
|
|
NM_001457.4(FLNB):c.4062-8C>T
|
rs369254062
|
0.00003
|
|
NM_001457.4(FLNB):c.4170C>T (p.Phe1390=)
|
rs374070003
|
0.00003
|
|
NM_001457.4(FLNB):c.4185C>T (p.Tyr1395=)
|
rs373754367
|
0.00003
|
|
NM_001457.4(FLNB):c.4760G>A (p.Arg1587His)
|
rs756266678
|
0.00003
|
|
NM_001457.4(FLNB):c.6154C>T (p.Leu2052=)
|
rs372726521
|
0.00003
|
|
NM_001458.5(FLNC):c.1471G>A (p.Val491Met)
|
rs770264114
|
0.00003
|
|
NM_001458.5(FLNC):c.4911C>G (p.Ser1637Arg)
|
rs1469272964
|
0.00003
|
|
NM_001458.5(FLNC):c.5377G>A (p.Val1793Met)
|
rs587780337
|
0.00003
|
|
NM_001458.5(FLNC):c.5984G>A (p.Arg1995His)
|
rs371508414
|
0.00003
|
|
NM_001482.3(GATM):c.1159+14A>G
|
rs368974196
|
0.00003
|
|
NM_001609.4(ACADSB):c.675T>C (p.Pro225=)
|
rs770933347
|
0.00003
|
|
NM_001613.4(ACTA2):c.390T>C (p.Asn130=)
|
rs141933412
|
0.00003
|
|
NM_001701.4(BAAT):c.165C>T (p.Phe55=)
|
rs377631387
|
0.00003
|
|
NM_001754.5(RUNX1):c.1257G>A (p.Val419=)
|
rs1172332120
|
0.00003
|
|
NM_001754.5(RUNX1):c.585C>T (p.Ile195=)
|
rs2057541413
|
0.00003
|
|
NM_001793.6(CDH3):c.2178G>A (p.Pro726=)
|
rs398123626
|
0.00003
|
|
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile)
|
rs768110640
|
0.00003
|
|
NM_001844.5(COL2A1):c.2259C>T (p.Gly753=)
|
rs781062223
|
0.00003
|
|
NM_001844.5(COL2A1):c.2410-7C>T
|
rs767041085
|
0.00003
|
|
NM_001844.5(COL2A1):c.2946C>T (p.Ile982=)
|
rs555904044
|
0.00003
|
|
NM_001844.5(COL2A1):c.3652A>G (p.Ile1218Val)
|
rs374450416
|
0.00003
|
|
NM_001844.5(COL2A1):c.506C>A (p.Pro169His)
|
rs746108926
|
0.00003
|
|
NM_001844.5(COL2A1):c.708+14C>T
|
rs769173275
|
0.00003
|
|
NM_001844.5(COL2A1):c.798G>A (p.Arg266=)
|
rs376753701
|
0.00003
|
|
NM_001845.6(COL4A1):c.1365C>T (p.Gly455=)
|
rs576636085
|
0.00003
|
|
NM_001845.6(COL4A1):c.3591C>T (p.Ala1197=)
|
rs768381482
|
0.00003
|
|
NM_001845.6(COL4A1):c.4029G>A (p.Pro1343=)
|
rs540983592
|
0.00003
|
|
NM_001853.4(COL9A3):c.1095G>A (p.Glu365=)
|
rs776395616
|
0.00003
|
|
NM_001853.4(COL9A3):c.1548+7C>T
|
rs373996629
|
0.00003
|
|
NM_001853.4(COL9A3):c.1570C>T (p.Arg524Cys)
|
rs368767002
|
0.00003
|
|
NM_001854.4(COL11A1):c.1039G>A (p.Asp347Asn)
|
rs199942159
|
0.00003
|
|
NM_001854.4(COL11A1):c.1210G>A (p.Gly404Ser)
|
rs1156500992
|
0.00003
|
|
NM_001854.4(COL11A1):c.1262C>T (p.Ala421Val)
|
rs775644641
|
0.00003
|
|
NM_001854.4(COL11A1):c.3344C>T (p.Pro1115Leu)
|
rs958678153
|
0.00003
|
|
NM_001854.4(COL11A1):c.3357C>T (p.Ala1119=)
|
rs375400337
|
0.00003
|
|
NM_001854.4(COL11A1):c.3779C>A (p.Ala1260Glu)
|
rs750838060
|
0.00003
|
|
NM_001854.4(COL11A1):c.4067C>G (p.Pro1356Arg)
|
rs986400534
|
0.00003
|
|
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys)
|
rs141304474
|
0.00003
|
|
NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile)
|
rs555151297
|
0.00003
|
|
NM_001876.4(CPT1A):c.1518C>T (p.Gly506=)
|
rs573112017
|
0.00003
|
|
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met)
|
rs727504783
|
0.00003
|
|
NM_001999.4(FBN2):c.2214A>T (p.Gly738=)
|
rs201548788
|
0.00003
|
|
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser)
|
rs762567430
|
0.00003
|
|
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=)
|
rs1482008222
|
0.00003
|
|
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=)
|
rs751824761
|
0.00003
|
|
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser)
|
rs752201545
|
0.00003
|
|
NM_002103.5(GYS1):c.222G>A (p.Arg74=)
|
rs748174034
|
0.00003
|
|
NM_002103.5(GYS1):c.741G>A (p.Ala247=)
|
rs3745692
|
0.00003
|
|
NM_002225.5(IVD):c.1139-8G>C
|
rs755640305
|
0.00003
|
|
NM_002225.5(IVD):c.264C>T (p.Gly88=)
|
rs377199313
|
0.00003
|
|
NM_002292.4(LAMB2):c.76+10C>T
|
rs370554848
|
0.00003
|
|
NM_002294.3(LAMP2):c.640C>A (p.Pro214Thr)
|
rs776101722
|
0.00003
|
|
NM_002335.4(LRP5):c.1002G>A (p.Arg334=)
|
rs868085658
|
0.00003
|
|
NM_002335.4(LRP5):c.2241G>A (p.Leu747=)
|
rs867927445
|
0.00003
|
|
NM_002335.4(LRP5):c.738C>T (p.Ser246=)
|
rs768638466
|
0.00003
|
|
NM_002439.5(MSH3):c.237+7T>G
|
rs1405024198
|
0.00003
|
|
NM_002470.4(MYH3):c.593C>T (p.Thr198Ile)
|
rs750773513
|
0.00003
|
|
NM_002473.6(MYH9):c.1201G>A (p.Val401Ile)
|
rs369581570
|
0.00003
|
|
NM_002473.6(MYH9):c.193G>A (p.Val65Met)
|
rs377348805
|
0.00003
|
|
NM_002473.6(MYH9):c.209A>C (p.Asp70Ala)
|
rs764768999
|
0.00003
|
|
NM_002473.6(MYH9):c.5851G>A (p.Ala1951Thr)
|
rs775685559
|
0.00003
|
|
NM_002474.3(MYH11):c.1402-14C>T
|
rs375973110
|
0.00003
|
|
NM_002474.3(MYH11):c.5421C>T (p.Ala1807=)
|
rs145857508
|
0.00003
|
|
NM_002474.3(MYH11):c.546C>T (p.Ala182=)
|
rs113577450
|
0.00003
|
|
NM_002485.5(NBN):c.207A>G (p.Lys69=)
|
rs754352569
|
0.00003
|
|
NM_002485.5(NBN):c.702+9G>A
|
rs748373099
|
0.00003
|
|
NM_002528.7(NTHL1):c.686-7C>G
|
rs529341502
|
0.00003
|
|
NM_002529.4(NTRK1):c.1473C>T (p.Ile491=)
|
rs373181158
|
0.00003
|
|
NM_002529.4(NTRK1):c.1778G>A (p.Arg593Gln)
|
rs748133401
|
0.00003
|
|
NM_002529.4(NTRK1):c.219C>T (p.Ile73=)
|
rs563296138
|
0.00003
|
|
NM_002529.4(NTRK1):c.2338C>T (p.Arg780Trp)
|
rs537948663
|
0.00003
|
|
NM_002529.4(NTRK1):c.2355C>T (p.Ala785=)
|
rs772156529
|
0.00003
|
|
NM_002529.4(NTRK1):c.676G>A (p.Gly226Ser)
|
rs760918699
|
0.00003
|
|
NM_002529.4(NTRK1):c.808G>A (p.Asp270Asn)
|
rs145222195
|
0.00003
|
|
NM_002529.4(NTRK1):c.954T>C (p.Asn318=)
|
rs769539870
|
0.00003
|
|
NM_002609.4(PDGFRB):c.164C>T (p.Ser55Leu)
|
rs147952898
|
0.00003
|
|
NM_002617.4(PEX10):c.280G>A (p.Val94Met)
|
rs142626035
|
0.00003
|
|
NM_002617.4(PEX10):c.601-75G>A
|
rs369211467
|
0.00003
|
|
NM_002633.3(PGM1):c.1144+10A>G
|
rs886046482
|
0.00003
|
|
NM_002691.4(POLD1):c.2562C>T (p.Asp854=)
|
rs746579020
|
0.00003
|
|
NM_002691.4(POLD1):c.2953+4C>T
|
rs1057521166
|
0.00003
|
|
NM_002691.4(POLD1):c.3219-5C>T
|
rs748304578
|
0.00003
|
|
NM_002691.4(POLD1):c.758+5G>A
|
rs760003191
|
0.00003
|
|
NM_002691.4(POLD1):c.841-5C>T
|
rs530091118
|
0.00003
|
|
NM_002769.5(PRSS1):c.200+18G>A
|
rs778658500
|
0.00003
|
|
NM_002775.5(HTRA1):c.957C>T (p.Thr319=)
|
rs373287445
|
0.00003
|
|
NM_002778.4(PSAP):c.798G>A (p.Ala266=)
|
rs199672678
|
0.00003
|
|
NM_002900.3(RBP3):c.717C>T (p.Ala239=)
|
rs146269396
|
0.00003
|
|
NM_002907.4(RECQL):c.868-2A>G
|
rs571176607
|
0.00003
|
|
NM_003036.4(SKI):c.1877A>T (p.Lys626Met)
|
rs774106502
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1229G>A (p.Gly410Asp)
|
rs200125400
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1587-11T>G
|
rs772775759
|
0.00003
|
|
NM_003060.4(SLC22A5):c.696G>A (p.Thr232=)
|
rs748677211
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3952-13C>A
|
rs374611879
|
0.00003
|
|
NM_003119.4(SPG7):c.663G>A (p.Lys221=)
|
rs575421836
|
0.00003
|
|
NM_003240.5(LEFTY2):c.810T>C (p.Ile270=)
|
rs751370455
|
0.00003
|
|
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=)
|
rs141113059
|
0.00003
|
|
NM_003242.6(TGFBR2):c.94+16278G>C
|
rs557449314
|
0.00003
|
|
NM_003283.6(TNNT1):c.47-6C>G
|
rs375682055
|
0.00003
|
|
NM_003322.6(TULP1):c.1323+9C>T
|
rs769417336
|
0.00003
|
|
NM_003331.5(TYK2):c.2646G>C (p.Pro882=)
|
rs184567726
|
0.00003
|
|
NM_003334.4(UBA1):c.1683T>C (p.Asp561=)
|
rs781873529
|
0.00003
|
|
NM_003383.5(VLDLR):c.1188T>C (p.Asp396=)
|
rs371219585
|
0.00003
|
|
NM_003383.5(VLDLR):c.1245C>T (p.Gly415=)
|
rs746308049
|
0.00003
|
|
NM_003384.3(VRK1):c.1069-9A>G
|
rs767585930
|
0.00003
|
|
NM_003480.4(MFAP5):c.157G>A (p.Ala53Thr)
|
rs576618912
|
0.00003
|
|
NM_003482.4(KMT2D):c.5285G>C (p.Ser1762Thr)
|
rs777604931
|
0.00003
|
|
NM_003482.4(KMT2D):c.6638G>A (p.Gly2213Asp)
|
rs368767696
|
0.00003
|
|
NM_003482.4(KMT2D):c.7526A>G (p.Lys2509Arg)
|
rs1373179700
|
0.00003
|
|
NM_003482.4(KMT2D):c.8137G>A (p.Ala2713Thr)
|
rs748969707
|
0.00003
|
|
NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=)
|
rs150572286
|
0.00003
|
|
NM_003560.4(PLA2G6):c.895-5C>T
|
rs372128546
|
0.00003
|
|
NM_003664.5(AP3B1):c.519A>G (p.Ala173=)
|
rs747459337
|
0.00003
|
|
NM_003690.5(PRKRA):c.654G>A (p.Leu218=)
|
rs763093482
|
0.00003
|
|
NM_003721.4(RFXANK):c.501C>A (p.Gly167=)
|
rs145457604
|
0.00003
|
|
NM_003742.4(ABCB11):c.126C>T (p.Gly42=)
|
rs138800291
|
0.00003
|
|
NM_003742.4(ABCB11):c.2037G>A (p.Ala679=)
|
rs776223452
|
0.00003
|
|
NM_003742.4(ABCB11):c.2523G>A (p.Gly841=)
|
rs367874361
|
0.00003
|
|
NM_003742.4(ABCB11):c.3060G>A (p.Val1020=)
|
rs368622067
|
0.00003
|
|
NM_003742.4(ABCB11):c.3246T>C (p.Asp1082=)
|
rs750944055
|
0.00003
|
|
NM_003742.4(ABCB11):c.3411+10G>A
|
rs188996270
|
0.00003
|
|
NM_003896.4(ST3GAL5):c.849+15T>G
|
rs768216151
|
0.00003
|
|
NM_003919.3(SGCE):c.410G>A (p.Arg137His)
|
rs548306335
|
0.00003
|
|
NM_003919.3(SGCE):c.471G>A (p.Pro157=)
|
rs747531940
|
0.00003
|
|
NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=)
|
rs765682604
|
0.00003
|
|
NM_003999.3(OSMR):c.2538T>A (p.Asn846Lys)
|
rs771864692
|
0.00003
|
|
NM_004035.7(ACOX1):c.1944A>G (p.Glu648=)
|
rs374691393
|
0.00003
|
|
NM_004035.7(ACOX1):c.825C>T (p.Tyr275=)
|
rs542159010
|
0.00003
|
|
NM_004153.4(ORC1):c.2571G>A (p.Ala857=)
|
rs192392819
|
0.00003
|
|
NM_004183.4(BEST1):c.1133A>G (p.Asn378Ser)
|
rs199998058
|
0.00003
|
|
NM_004239.4(TRIP11):c.4128G>T (p.Ser1376=)
|
rs373454645
|
0.00003
|
|
NM_004239.4(TRIP11):c.4206A>G (p.Gln1402=)
|
rs746081059
|
0.00003
|
|
NM_004239.4(TRIP11):c.4443G>A (p.Ala1481=)
|
rs372272441
|
0.00003
|
|
NM_004304.5(ALK):c.3742C>T (p.Arg1248Ter)
|
rs145028315
|
0.00003
|
|
NM_004304.5(ALK):c.4425C>T (p.His1475=)
|
rs139039449
|
0.00003
|
|
NM_004304.5(ALK):c.615C>G (p.Ser205=)
|
rs567498111
|
0.00003
|
|
NM_004320.6(ATP2A1):c.1962G>A (p.Thr654=)
|
rs773807881
|
0.00003
|
|
NM_004333.6(BRAF):c.622A>G (p.Ile208Val)
|
rs727504571
|
0.00003
|
|
NM_004360.5(CDH1):c.1360G>A (p.Val454Ile)
|
rs587780112
|
0.00003
|
|
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)
|
rs36087757
|
0.00003
|
|
NM_004360.5(CDH1):c.160A>G (p.Arg54Gly)
|
rs587781329
|
0.00003
|
|
NM_004360.5(CDH1):c.2017C>A (p.Gln673Lys)
|
rs587781701
|
0.00003
|
|
NM_004360.5(CDH1):c.2204C>T (p.Ala735Val)
|
rs587782464
|
0.00003
|
|
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys)
|
rs769076258
|
0.00003
|
|
NM_004360.5(CDH1):c.759C>T (p.Thr253=)
|
rs372934565
|
0.00003
|
|
NM_004360.5(CDH1):c.832+17G>C
|
rs373179391
|
0.00003
|
|
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr)
|
rs786205870
|
0.00003
|
|
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys)
|
rs373637483
|
0.00003
|
|
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His)
|
rs200125060
|
0.00003
|
|
NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met)
|
rs373216375
|
0.00003
|
|
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met)
|
rs760771706
|
0.00003
|
|
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr)
|
rs141163578
|
0.00003
|
|
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)
|
rs755492444
|
0.00003
|
|
NM_004415.4(DSP):c.1743C>T (p.Ala581=)
|
rs139095230
|
0.00003
|
|
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)
|
rs764951792
|
0.00003
|
|
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly)
|
rs557966264
|
0.00003
|
|
NM_004415.4(DSP):c.2566T>C (p.Phe856Leu)
|
rs779253041
|
0.00003
|
|
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln)
|
rs147909031
|
0.00003
|
|
NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg)
|
rs747326519
|
0.00003
|
|
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys)
|
rs141805096
|
0.00003
|
|
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln)
|
rs370063434
|
0.00003
|
|
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly)
|
rs374090050
|
0.00003
|
|
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala)
|
rs886061748
|
0.00003
|
|
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val)
|
rs768837509
|
0.00003
|
|
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp)
|
rs771553674
|
0.00003
|
|
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly)
|
rs760215987
|
0.00003
|
|
NM_004415.4(DSP):c.997A>G (p.Ser333Gly)
|
rs773685575
|
0.00003
|
|
NM_004447.6(EPS8):c.1230A>C (p.Gly410=)
|
rs184886917
|
0.00003
|
|
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val)
|
rs201823591
|
0.00003
|
|
NM_004553.6(NDUFS6):c.262G>A (p.Asp88Asn)
|
rs747442701
|
0.00003
|
|
NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg)
|
rs142386992
|
0.00003
|
|
NM_004560.4(ROR2):c.51C>A (p.Ala17=)
|
rs886043361
|
0.00003
|
|
NM_004655.4(AXIN2):c.2196G>A (p.Thr732=)
|
rs878854725
|
0.00003
|
|
NM_004656.4(BAP1):c.2175G>A (p.Lys725=)
|
rs760537008
|
0.00003
|
|
NM_004744.5(LRAT):c.300C>T (p.Gly100=)
|
rs770608706
|
0.00003
|
|
NM_004817.4(TJP2):c.2457A>G (p.Gln819=)
|
rs988720358
|
0.00003
|
|
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=)
|
rs771190188
|
0.00003
|
|
NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=)
|
rs201281307
|
0.00003
|
|
NM_004937.3(CTNS):c.621C>T (p.Phe207=)
|
rs749428707
|
0.00003
|
|
NM_004958.4(MTOR):c.1855C>T (p.Arg619Cys)
|
rs199712134
|
0.00003
|
|
NM_004984.4(KIF5A):c.425A>G (p.Lys142Arg)
|
rs758987045
|
0.00003
|
|
NM_004984.4(KIF5A):c.750C>T (p.Asp250=)
|
rs375693647
|
0.00003
|
|
NM_005045.4(RELN):c.6079G>A (p.Val2027Ile)
|
rs753782715
|
0.00003
|
|
NM_005045.4(RELN):c.850G>A (p.Val284Met)
|
rs149397714
|
0.00003
|
|
NM_005045.4(RELN):c.8624C>T (p.Pro2875Leu)
|
rs761738403
|
0.00003
|
|
NM_005198.5(CHKB):c.927+10C>G
|
rs549171476
|
0.00003
|
|
NM_005199.5(CHRNG):c.330G>A (p.Pro110=)
|
rs149931943
|
0.00003
|
|
NM_005422.4(TECTA):c.3493G>A (p.Val1165Met)
|
rs373132598
|
0.00003
|
|
NM_005422.4(TECTA):c.811G>C (p.Glu271Gln)
|
rs555093382
|
0.00003
|
|
NM_005502.4(ABCA1):c.302+17G>T
|
rs367919230
|
0.00003
|
|
NM_005502.4(ABCA1):c.725C>G (p.Thr242Arg)
|
rs775987152
|
0.00003
|
|
NM_005529.7(HSPG2):c.2520C>T (p.Asp840=)
|
rs544565016
|
0.00003
|
|
NM_005529.7(HSPG2):c.5115C>G (p.Pro1705=)
|
rs370558075
|
0.00003
|
|
NM_005546.4(ITK):c.1563G>A (p.Pro521=)
|
rs767821181
|
0.00003
|
|
NM_005609.4(PYGM):c.2412G>A (p.Arg804=)
|
rs199927544
|
0.00003
|
|
NM_005609.4(PYGM):c.780C>T (p.Val260=)
|
rs754415422
|
0.00003
|
|
NM_005901.6(SMAD2):c.784+7T>A
|
rs1429670443
|
0.00003
|
|
NM_005902.4(SMAD3):c.1070A>G (p.Asn357Ser)
|
rs140880290
|
0.00003
|
|
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val)
|
rs1317532064
|
0.00003
|
|
NM_005902.4(SMAD3):c.981C>G (p.His327Gln)
|
rs780274581
|
0.00003
|
|
NM_006005.3(WFS1):c.1263C>T (p.Ile421=)
|
rs748103155
|
0.00003
|
|
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys)
|
rs142428158
|
0.00003
|
|
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile)
|
rs144888979
|
0.00003
|
|
NM_006031.6(PCNT):c.1743C>T (p.Leu581=)
|
rs375581809
|
0.00003
|
|
NM_006031.6(PCNT):c.2154+8G>A
|
rs778407564
|
0.00003
|
|
NM_006059.4(LAMC3):c.4348C>T (p.Arg1450Cys)
|
rs201785610
|
0.00003
|
|
NM_006059.4(LAMC3):c.4477+3A>G
|
rs202112145
|
0.00003
|
|
NM_006096.4(NDRG1):c.42G>A (p.Lys14=)
|
rs753261868
|
0.00003
|
|
NM_006204.4(PDE6C):c.1266C>T (p.Thr422=)
|
rs530593118
|
0.00003
|
|
NM_006231.4(POLE):c.2016G>A (p.Arg672=)
|
rs991583405
|
0.00003
|
|
NM_006231.4(POLE):c.2027-12C>G
|
rs767811987
|
0.00003
|
|
NM_006231.4(POLE):c.2333A>C (p.Lys778Thr)
|
rs868832791
|
0.00003
|
|
NM_006231.4(POLE):c.3582+5C>T
|
rs775661457
|
0.00003
|
|
NM_006231.4(POLE):c.4050C>T (p.Leu1350=)
|
rs764888601
|
0.00003
|
|
NM_006231.4(POLE):c.5313G>A (p.Thr1771=)
|
rs201803493
|
0.00003
|
|
NM_006231.4(POLE):c.6408C>T (p.Gly2136=)
|
rs1057524549
|
0.00003
|
|
NM_006245.4(PPP2R5D):c.327G>A (p.Ser109=)
|
rs573662782
|
0.00003
|
|
NM_006265.3(RAD21):c.1782C>T (p.Ala594=)
|
rs61737172
|
0.00003
|
|
NM_006361.6(HOXB13):c.122C>T (p.Thr41Met)
|
rs199799743
|
0.00003
|
|
NM_006371.5(CRTAP):c.376C>T (p.Leu126=)
|
rs756961672
|
0.00003
|
|
NM_006420.3(ARFGEF2):c.5238C>T (p.Asp1746=)
|
rs371687802
|
0.00003
|
|
NM_006420.3(ARFGEF2):c.907+9C>T
|
rs538199862
|
0.00003
|
|
NM_006493.4(CLN5):c.420A>G (p.Gln140=)
|
rs753732321
|
0.00003
|
|
NM_006662.3(SRCAP):c.1545A>G (p.Glu515=)
|
rs770648545
|
0.00003
|
|
NM_006662.3(SRCAP):c.9633C>T (p.Ser3211=)
|
rs78465857
|
0.00003
|
|
NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys)
|
rs367658497
|
0.00003
|
|
NM_006766.5(KAT6A):c.502C>T (p.Arg168Trp)
|
rs369777293
|
0.00003
|
|
NM_006766.5(KAT6A):c.5339A>G (p.Tyr1780Cys)
|
rs61753681
|
0.00003
|
|
NM_006790.3(MYOT):c.817-11T>C
|
rs377759571
|
0.00003
|
|
NM_006892.4(DNMT3B):c.102G>A (p.Ser34=)
|
rs564154904
|
0.00003
|
|
NM_006892.4(DNMT3B):c.684C>T (p.Leu228=)
|
rs373811098
|
0.00003
|
|
NM_006899.5(IDH3B):c.1072-4G>A
|
rs556473702
|
0.00003
|
|
NM_006899.5(IDH3B):c.981G>A (p.Leu327=)
|
rs776399707
|
0.00003
|
|
NM_006922.4(SCN3A):c.1505G>A (p.Arg502Gln)
|
rs747726149
|
0.00003
|
|
NM_006922.4(SCN3A):c.1608C>T (p.Ser536=)
|
rs376381280
|
0.00003
|
|
NM_006922.4(SCN3A):c.3177A>G (p.Lys1059=)
|
rs370141420
|
0.00003
|
|
NM_006922.4(SCN3A):c.3744C>G (p.Thr1248=)
|
rs761584493
|
0.00003
|
|
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys)
|
rs375244948
|
0.00003
|
|
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly)
|
rs747377284
|
0.00003
|
|
NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His)
|
rs772590586
|
0.00003
|
|
NM_006946.4(SPTBN2):c.5826G>A (p.Ala1942=)
|
rs373276784
|
0.00003
|
|
NM_006949.4(STXBP2):c.1362G>A (p.Ser454=)
|
rs980486322
|
0.00003
|
|
NM_006949.4(STXBP2):c.1620C>T (p.Gly540=)
|
rs374131788
|
0.00003
|
|
NM_006949.4(STXBP2):c.321C>T (p.Thr107=)
|
rs886054703
|
0.00003
|
|
NM_007055.4(POLR3A):c.3697C>A (p.Arg1233=)
|
rs576629157
|
0.00003
|
|
NM_007074.4(CORO1A):c.451+7C>T
|
rs761205413
|
0.00003
|
|
NM_007118.4(TRIO):c.4146G>A (p.Met1382Ile)
|
rs372498676
|
0.00003
|
|
NM_007272.3(CTRC):c.174G>A (p.Thr58=)
|
rs746721892
|
0.00003
|
|
NM_007294.4(BRCA1):c.1881C>G (p.Val627=)
|
rs80356838
|
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.5075-6C>A
|
rs397507240
|
0.00003
|
|
NM_007294.4(BRCA1):c.5152+15A>G
|
rs750905289
|
0.00003
|
|
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu)
|
rs80357012
|
0.00003
|
|
NM_012092.4(ICOS):c.42C>A (p.Arg14=)
|
rs765158675
|
0.00003
|
|
NM_012092.4(ICOS):c.510A>G (p.Ser170=)
|
rs148435889
|
0.00003
|
|
NM_012144.4(DNAI1):c.1599C>T (p.Leu533=)
|
rs150785761
|
0.00003
|
|
NM_012213.3(MLYCD):c.1344C>T (p.Cys448=)
|
rs534173407
|
0.00003
|
|
NM_012213.3(MLYCD):c.505C>T (p.Leu169=)
|
rs771885443
|
0.00003
|
|
NM_012213.3(MLYCD):c.762C>T (p.His254=)
|
rs773274796
|
0.00003
|
|
NM_012301.4(MAGI2):c.1713C>T (p.Ser571=)
|
rs587780386
|
0.00003
|
|
NM_012338.4(TSPAN12):c.440C>A (p.Thr147Asn)
|
rs759104377
|
0.00003
|
|
NM_012434.5(SLC17A5):c.804A>G (p.Ser268=)
|
rs750559102
|
0.00003
|
|
NM_012469.4(PRPF6):c.772-7C>T
|
rs558787024
|
0.00003
|
|
NM_012470.4(TNPO3):c.2326A>G (p.Ile776Val)
|
rs368873021
|
0.00003
|
|
NM_012472.6(DNAAF11):c.408A>G (p.Val136=)
|
rs762081490
|
0.00003
|
|
NM_014053.4(FLVCR1):c.346C>T (p.Leu116=)
|
rs150645228
|
0.00003
|
|
NM_014140.4(SMARCAL1):c.1407C>T (p.Ile469=)
|
rs750621192
|
0.00003
|
|
NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr)
|
rs571392819
|
0.00003
|
|
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=)
|
rs781340148
|
0.00003
|
|
NM_014140.4(SMARCAL1):c.888G>A (p.Thr296=)
|
rs140707035
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.2241G>A (p.Ala747=)
|
rs758102050
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.2460C>T (p.Ser820=)
|
rs144496909
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.3797-5G>A
|
rs745770134
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.2835G>A (p.Pro945=)
|
rs768390657
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.3303C>T (p.Asn1101=)
|
rs766731589
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.891+9G>A
|
rs749508251
|
0.00003
|
|
NM_014249.4(NR2E3):c.245+9G>A
|
rs538864090
|
0.00003
|
|
NM_014336.5(AIPL1):c.785-11G>A
|
rs199772097
|
0.00003
|
|
NM_014339.7(IL17RA):c.1728C>T (p.Asp576=)
|
rs767714232
|
0.00003
|
|
NM_014339.7(IL17RA):c.1986G>A (p.Pro662=)
|
rs990617336
|
0.00003
|
|
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser)
|
rs375898103
|
0.00003
|
|
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly)
|
rs543563990
|
0.00003
|
|
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys)
|
rs765758197
|
0.00003
|
|
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe)
|
rs755172172
|
0.00003
|
|
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly)
|
rs1170997950
|
0.00003
|
|
NM_014363.6(SACS):c.12665G>A (p.Gly4222Glu)
|
rs774349752
|
0.00003
|
|
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met)
|
rs769260277
|
0.00003
|
|
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp)
|
rs201752905
|
0.00003
|
|
NM_014363.6(SACS):c.2853C>A (p.His951Gln)
|
rs200644511
|
0.00003
|
|
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn)
|
rs772515267
|
0.00003
|
|
NM_014363.6(SACS):c.8142G>A (p.Ser2714=)
|
rs530250252
|
0.00003
|
|
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)
|
rs760976439
|
0.00003
|
|
NM_014384.3(ACAD8):c.1233C>T (p.Ser411=)
|
rs146145710
|
0.00003
|
|
NM_014491.4(FOXP2):c.2003+10G>C
|
rs199581885
|
0.00003
|
|
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe)
|
rs764912104
|
0.00003
|
|
NM_014714.4(IFT140):c.2650C>T (p.Arg884Trp)
|
rs554196965
|
0.00003
|
|
NM_014714.4(IFT140):c.2692G>A (p.Val898Met)
|
rs369457143
|
0.00003
|
|
NM_014714.4(IFT140):c.2781G>A (p.Ser927=)
|
rs773225207
|
0.00003
|
|
NM_014714.4(IFT140):c.657G>A (p.Glu219=)
|
rs757028149
|
0.00003
|
|
NM_014727.3(KMT2B):c.1444C>T (p.Arg482Trp)
|
rs1420662989
|
0.00003
|
|
NM_014844.5(TECPR2):c.2967G>A (p.Thr989=)
|
rs1345090533
|
0.00003
|
|
NM_014844.5(TECPR2):c.351T>G (p.Leu117=)
|
rs771585977
|
0.00003
|
|
NM_014844.5(TECPR2):c.999G>A (p.Ser333=)
|
rs369972265
|
0.00003
|
|
NM_014855.3(AP5Z1):c.1455-12C>T
|
rs1038026978
|
0.00003
|
|
NM_014874.4(MFN2):c.2145C>T (p.Ala715=)
|
rs571011689
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.403G>A (p.Val135Met)
|
rs771937001
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.7317C>T (p.Asp2439=)
|
rs147321202
|
0.00003
|
|
NM_015404.4(WHRN):c.1473C>T (p.Phe491=)
|
rs886044241
|
0.00003
|
|
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=)
|
rs756532676
|
0.00003
|
|
NM_015559.3(SETBP1):c.1388G>A (p.Arg463His)
|
rs781159539
|
0.00003
|
|
NM_015559.3(SETBP1):c.584C>T (p.Thr195Met)
|
rs755852977
|
0.00003
|
|
NM_015559.3(SETBP1):c.62C>T (p.Pro21Leu)
|
rs758194735
|
0.00003
|
|
NM_015662.3(IFT172):c.357A>G (p.Gln119=)
|
rs749934202
|
0.00003
|
|
NM_015909.4(NBAS):c.6311G>A (p.Arg2104Gln)
|
rs773412024
|
0.00003
|
|
NM_015909.4(NBAS):c.937C>T (p.Arg313Cys)
|
rs571030699
|
0.00003
|
|
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=)
|
rs777042053
|
0.00003
|
|
NM_016239.4(MYO15A):c.5288G>A (p.Arg1763Gln)
|
rs780165350
|
0.00003
|
|
NM_016239.4(MYO15A):c.9913G>A (p.Glu3305Lys)
|
rs535441567
|
0.00003
|
|
NM_017534.6(MYH2):c.2655G>A (p.Thr885=)
|
rs141764966
|
0.00003
|
|
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu)
|
rs370951369
|
0.00003
|
|
NM_017721.5(CC2D1A):c.197-5G>A
|
rs373157979
|
0.00003
|
|
NM_017755.6(NSUN2):c.2259C>T (p.Asp753=)
|
rs372574598
|
0.00003
|
|
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)
|
rs201476674
|
0.00003
|
|
NM_017882.3(CLN6):c.831C>T (p.Val277=)
|
rs753344266
|
0.00003
|
|
NM_018075.5(ANO10):c.1559C>T (p.Ala520Val)
|
rs150026260
|
0.00003
|
|
NM_018136.5(ASPM):c.8821-9A>G
|
rs375911555
|
0.00003
|
|
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=)
|
rs934259733
|
0.00003
|
|
NM_018718.3(CEP41):c.757+11T>C
|
rs1050676312
|
0.00003
|
|
NM_018896.5(CACNA1G):c.305G>A (p.Arg102Gln)
|
rs763813233
|
0.00003
|
|
NM_018941.4(CLN8):c.582G>A (p.Gln194=)
|
rs139824802
|
0.00003
|
|
NM_020247.5(COQ8A):c.771G>A (p.Glu257=)
|
rs371867831
|
0.00003
|
|
NM_020320.5(RARS2):c.916G>A (p.Asp306Asn)
|
rs781646725
|
0.00003
|
|
NM_020376.4(PNPLA2):c.487-7G>C
|
rs372342635
|
0.00003
|
|
NM_020529.3(NFKBIA):c.547+10C>T
|
rs201614038
|
0.00003
|
|
NM_020686.6(ABAT):c.1123-15C>T
|
rs376574278
|
0.00003
|
|
NM_020686.6(ABAT):c.168+13C>T
|
rs759610129
|
0.00003
|
|
NM_020686.6(ABAT):c.708C>T (p.Ile236=)
|
rs778110660
|
0.00003
|
|
NM_020738.4(KIDINS220):c.1782T>G (p.Pro594=)
|
rs376216731
|
0.00003
|
|
NM_020745.4(AARS2):c.2861C>T (p.Ala954Val)
|
rs747312867
|
0.00003
|
|
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=)
|
rs140367649
|
0.00003
|
|
NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro)
|
rs756570347
|
0.00003
|
|
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly)
|
rs1360863995
|
0.00003
|
|
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=)
|
rs141695705
|
0.00003
|
|
NM_020975.6(RET):c.539G>A (p.Arg180Gln)
|
rs370736139
|
0.00003
|
|
NM_021076.4(NEFH):c.1347G>C (p.Lys449Asn)
|
rs199932977
|
0.00003
|
|
NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=)
|
rs750086412
|
0.00003
|
|
NM_021728.4(OTX2):c.270G>T (p.Val90=)
|
rs747916036
|
0.00003
|
|
NM_021956.5(GRIK2):c.2487C>T (p.Ala829=)
|
rs370196358
|
0.00003
|
|
NM_021957.4(GYS2):c.627T>A (p.Leu209=)
|
rs767838400
|
0.00003
|
|
NM_022041.4(GAN):c.283-15A>G
|
rs754182168
|
0.00003
|
|
NM_022089.4(ATP13A2):c.1688G>A (p.Arg563Gln)
|
rs541385523
|
0.00003
|
|
NM_022089.4(ATP13A2):c.3501C>T (p.Ala1167=)
|
rs781135190
|
0.00003
|
|
NM_022095.4(ZNF335):c.3670-8A>C
|
rs772015167
|
0.00003
|
|
NM_022098.4(XPNPEP3):c.1188T>C (p.Leu396=)
|
rs146309087
|
0.00003
|
|
NM_022124.6(CDH23):c.3924C>T (p.Asp1308=)
|
rs776501112
|
0.00003
|
|
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)
|
rs756231829
|
0.00003
|
|
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=)
|
rs111033490
|
0.00003
|
|
NM_022124.6(CDH23):c.617A>C (p.Asn206Thr)
|
rs528880720
|
0.00003
|
|
NM_022124.6(CDH23):c.7077A>C (p.Thr2359=)
|
rs191154178
|
0.00003
|
|
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=)
|
rs766541944
|
0.00003
|
|
NM_022132.5(MCCC2):c.864G>A (p.Arg288=)
|
rs368236133
|
0.00003
|
|
NM_022437.3(ABCG8):c.1125A>G (p.Glu375=)
|
rs371968769
|
0.00003
|
|
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser)
|
rs141911573
|
0.00003
|
|
NM_022455.5(NSD1):c.4332C>T (p.Gly1444=)
|
rs147235302
|
0.00003
|
|
NM_022455.5(NSD1):c.7500G>C (p.Met2500Ile)
|
rs770120153
|
0.00003
|
|
NM_022455.5(NSD1):c.7531G>C (p.Asp2511His)
|
rs575229932
|
0.00003
|
|
NM_022464.5(SIL1):c.930C>T (p.Leu310=)
|
rs147797471
|
0.00003
|
|
NM_022489.4(INF2):c.2155G>A (p.Glu719Lys)
|
rs775500020
|
0.00003
|
|
NM_022489.4(INF2):c.2804C>T (p.Ala935Val)
|
rs781494318
|
0.00003
|
|
NM_022489.4(INF2):c.3520G>A (p.Glu1174Lys)
|
rs755527335
|
0.00003
|
|
NM_022835.3(PLEKHG2):c.378+7C>T
|
rs368379229
|
0.00003
|
|
NM_024105.4(ALG12):c.183C>T (p.Pro61=)
|
rs749156618
|
0.00003
|
|
NM_024422.6(DSC2):c.2250+12G>T
|
rs201039801
|
0.00003
|
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
|
NM_024596.5(MCPH1):c.297C>T (p.His99=)
|
rs727504012
|
0.00003
|
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
|
NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln)
|
rs151309609
|
0.00003
|
|
NM_024753.5(TTC21B):c.235T>C (p.Tyr79His)
|
rs752147287
|
0.00003
|
|
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln)
|
rs747246700
|
0.00003
|
|
NM_024757.5(EHMT1):c.3322G>A (p.Ala1108Thr)
|
rs199780189
|
0.00003
|
|
NM_025074.7(FRAS1):c.8752+9T>C
|
rs191984935
|
0.00003
|
|
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=)
|
rs760547081
|
0.00003
|
|
NM_025114.4(CEP290):c.6523-6T>C
|
rs794727692
|
0.00003
|
|
NM_025137.4(SPG11):c.4137A>G (p.Gln1379=)
|
rs748617459
|
0.00003
|
|
NM_030665.4(RAI1):c.195G>A (p.Thr65=)
|
rs377342940
|
0.00003
|
|
NM_030665.4(RAI1):c.2544C>T (p.Ala848=)
|
rs777023372
|
0.00003
|
|
NM_030665.4(RAI1):c.386C>G (p.Pro129Arg)
|
rs748915017
|
0.00003
|
|
NM_030665.4(RAI1):c.4355G>A (p.Arg1452Gln)
|
rs368003493
|
0.00003
|
|
NM_030665.4(RAI1):c.660C>T (p.Ser220=)
|
rs756623054
|
0.00003
|
|
NM_030665.4(RAI1):c.73T>A (p.Ser25Thr)
|
rs891764320
|
0.00003
|
|
NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=)
|
rs886056727
|
0.00003
|
|
NM_031407.7(HUWE1):c.11996+9C>T
|
rs782772316
|
0.00003
|
|
NM_031433.4(MFRP):c.1461C>A (p.Ile487=)
|
rs202139926
|
0.00003
|
|
NM_031433.4(MFRP):c.1506C>T (p.Ser502=)
|
rs773497972
|
0.00003
|
|
NM_032119.4(ADGRV1):c.10051C>T (p.Leu3351=)
|
rs1445890457
|
0.00003
|
|
NM_032119.4(ADGRV1):c.10570C>A (p.Gln3524Lys)
|
rs766464017
|
0.00003
|
|
NM_032119.4(ADGRV1):c.1094A>G (p.Asp365Gly)
|
rs779719772
|
0.00003
|
|
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu)
|
rs200957385
|
0.00003
|
|
NM_032119.4(ADGRV1):c.15059C>A (p.Thr5020Lys)
|
rs753667658
|
0.00003
|
|
NM_032119.4(ADGRV1):c.15698T>C (p.Met5233Thr)
|
rs750968239
|
0.00003
|
|
NM_032119.4(ADGRV1):c.16226G>A (p.Arg5409Gln)
|
rs567881943
|
0.00003
|
|
NM_032119.4(ADGRV1):c.16439G>A (p.Ser5480Asn)
|
rs772117132
|
0.00003
|
|
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His)
|
rs201073459
|
0.00003
|
|
NM_032119.4(ADGRV1):c.17857-6T>C
|
rs773357747
|
0.00003
|
|
NM_032119.4(ADGRV1):c.17869G>A (p.Ala5957Thr)
|
rs765800403
|
0.00003
|
|
NM_032119.4(ADGRV1):c.1854G>A (p.Glu618=)
|
rs376904160
|
0.00003
|
|
NM_032119.4(ADGRV1):c.18601A>C (p.Asn6201His)
|
rs201299038
|
0.00003
|
|
NM_032119.4(ADGRV1):c.267C>T (p.Ala89=)
|
rs759771981
|
0.00003
|
|
NM_032119.4(ADGRV1):c.2885C>G (p.Ser962Cys)
|
rs759360751
|
0.00003
|
|
NM_032119.4(ADGRV1):c.3212G>A (p.Ser1071Asn)
|
rs752410892
|
0.00003
|
|
NM_032119.4(ADGRV1):c.4658G>A (p.Arg1553His)
|
rs369994629
|
0.00003
|
|
NM_032119.4(ADGRV1):c.5623G>A (p.Gly1875Arg)
|
rs727503075
|
0.00003
|
|
NM_032119.4(ADGRV1):c.5658A>G (p.Thr1886=)
|
rs377468788
|
0.00003
|
|
NM_032119.4(ADGRV1):c.664G>A (p.Asp222Asn)
|
rs763872010
|
0.00003
|
|
NM_032119.4(ADGRV1):c.7907A>G (p.Asp2636Gly)
|
rs770468449
|
0.00003
|
|
NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile)
|
rs764987437
|
0.00003
|
|
NM_032409.3(PINK1):c.960-11C>T
|
rs371943401
|
0.00003
|
|
NM_032634.4(PIGO):c.2854+7C>A
|
rs768338180
|
0.00003
|
|
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile)
|
rs149439295
|
0.00003
|
|
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs)
|
rs772393186
|
0.00003
|
|
NM_033109.5(PNPT1):c.1566T>A (p.Gly522=)
|
rs754237697
|
0.00003
|
|
NM_033380.3(COL4A5):c.2882G>T (p.Gly961Val)
|
rs768478427
|
0.00003
|
|
NM_052845.4(MMAB):c.732G>A (p.Ser244=)
|
rs186864802
|
0.00003
|
|
NM_052859.4(RFT1):c.23G>A (p.Gly8Asp)
|
rs151322409
|
0.00003
|
|
NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys)
|
rs549182297
|
0.00003
|
|
NM_052872.4(IL17F):c.427T>C (p.Leu143=)
|
rs1015495067
|
0.00003
|
|
NM_053013.4(ENO3):c.1047G>A (p.Ser349=)
|
rs527864393
|
0.00003
|
|
NM_053025.4(MYLK):c.2781C>T (p.Ala927=)
|
rs12172928
|
0.00003
|
|
NM_053025.4(MYLK):c.4104C>T (p.Ile1368=)
|
rs376676607
|
0.00003
|
|
NM_053025.4(MYLK):c.4743C>T (p.Ile1581=)
|
rs371814184
|
0.00003
|
|
NM_054027.6(ANKH):c.27C>T (p.His9=)
|
rs199583793
|
0.00003
|
|
NM_080680.3(COL11A2):c.1363C>T (p.Arg455Trp)
|
rs144862714
|
0.00003
|
|
NM_080680.3(COL11A2):c.1607G>A (p.Arg536Gln)
|
rs770888294
|
0.00003
|
|
NM_080680.3(COL11A2):c.3020C>T (p.Pro1007Leu)
|
rs771092817
|
0.00003
|
|
NM_080680.3(COL11A2):c.3064G>A (p.Ala1022Thr)
|
rs1398107304
|
0.00003
|
|
NM_080680.3(COL11A2):c.3138G>C (p.Glu1046Asp)
|
rs773329088
|
0.00003
|
|
NM_080680.3(COL11A2):c.3325C>T (p.Pro1109Ser)
|
rs761687232
|
0.00003
|
|
NM_080680.3(COL11A2):c.3985G>A (p.Glu1329Lys)
|
rs774304709
|
0.00003
|
|
NM_080680.3(COL11A2):c.4190T>G (p.Leu1397Arg)
|
rs571981688
|
0.00003
|
|
NM_080680.3(COL11A2):c.854C>T (p.Thr285Met)
|
rs747064765
|
0.00003
|
|
NM_080911.3(UNG):c.36C>A (p.Ser12=)
|
rs772832695
|
0.00003
|
|
NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys)
|
rs749063844
|
0.00003
|
|
NM_130837.3(OPA1):c.33-8T>C
|
rs370303596
|
0.00003
|
|
NM_130837.3(OPA1):c.611-9A>G
|
rs372157755
|
0.00003
|
|
NM_130839.5(UBE3A):c.582A>G (p.Ala194=)
|
rs764101035
|
0.00003
|
|
NM_133497.4(KCNV2):c.1086C>G (p.Arg362=)
|
rs199886720
|
0.00003
|
|
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=)
|
rs759427879
|
0.00003
|
|
NM_138387.4(G6PC3):c.219-13T>C
|
rs773122600
|
0.00003
|
|
NM_138694.4(PKHD1):c.11507-8C>T
|
rs755710579
|
0.00003
|
|
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr)
|
rs181546197
|
0.00003
|
|
NM_138694.4(PKHD1):c.4845G>A (p.Thr1615=)
|
rs750233738
|
0.00003
|
|
NM_138694.4(PKHD1):c.708-4G>A
|
rs748018742
|
0.00003
|
|
NM_138927.4(SON):c.5170A>G (p.Asn1724Asp)
|
rs372853725
|
0.00003
|
|
NM_139343.3(BIN1):c.1473T>C (p.Pro491=)
|
rs779756862
|
0.00003
|
|
NM_139343.3(BIN1):c.675G>A (p.Glu225=)
|
rs148179522
|
0.00003
|
|
NM_144643.4(SCLT1):c.638C>T (p.Thr213Ile)
|
rs760824351
|
0.00003
|
|
NM_144670.6(A2ML1):c.1833+10T>C
|
rs753086817
|
0.00003
|
|
NM_144687.4(NLRP12):c.3003C>T (p.Thr1001=)
|
rs556001110
|
0.00003
|
|
NM_144687.4(NLRP12):c.858C>T (p.Pro286=)
|
rs145171629
|
0.00003
|
|
NM_144997.7(FLCN):c.586A>G (p.Ile196Val)
|
rs201078144
|
0.00003
|
|
NM_145861.4(EDARADD):c.600C>T (p.Asp200=)
|
rs74942492
|
0.00003
|
|
NM_152296.5(ATP1A3):c.3013+12C>T
|
rs782424595
|
0.00003
|
|
NM_152383.5(DIS3L2):c.453G>A (p.Pro151=)
|
rs567611268
|
0.00003
|
|
NM_152564.5(VPS13B):c.2935-4C>T
|
rs207469601
|
0.00003
|
|
NM_152564.5(VPS13B):c.8448T>C (p.Ile2816=)
|
rs763701016
|
0.00003
|
|
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=)
|
rs775883776
|
0.00003
|
|
NM_152703.5(SAMD9L):c.1764A>G (p.Gln588=)
|
rs776606453
|
0.00003
|
|
NM_152783.5(D2HGDH):c.1083G>A (p.Ala361=)
|
rs183342534
|
0.00003
|
|
NM_152783.5(D2HGDH):c.1141-12C>T
|
rs753825335
|
0.00003
|
|
NM_152783.5(D2HGDH):c.324G>A (p.Thr108=)
|
rs371102955
|
0.00003
|
|
NM_153603.4(COG7):c.1167G>A (p.Gln389=)
|
rs201313774
|
0.00003
|
|
NM_153603.4(COG7):c.1410-6G>C
|
rs369925503
|
0.00003
|
|
NM_153603.4(COG7):c.1629T>C (p.Tyr543=)
|
rs760342154
|
0.00003
|
|
NM_153603.4(COG7):c.1804-13G>A
|
rs759680428
|
0.00003
|
|
NM_153676.4(USH1C):c.1703C>T (p.Pro568Leu)
|
rs747675437
|
0.00003
|
|
NM_153676.4(USH1C):c.2551T>G (p.Ser851Ala)
|
rs200779709
|
0.00003
|
|
NM_173842.3(IL1RN):c.414T>C (p.Ser138=)
|
rs146491054
|
0.00003
|
|
NM_174936.4(PCSK9):c.1954A>G (p.Asn652Asp)
|
rs201280059
|
0.00003
|
|
NM_177438.3(DICER1):c.2133T>C (p.His711=)
|
rs878855248
|
0.00003
|
|
NM_178170.3(NEK8):c.48-10G>A
|
rs769058088
|
0.00003
|
|
NM_181507.2(HPS5):c.3059-10G>A
|
rs764418389
|
0.00003
|
|
NM_182894.3(VSX2):c.777G>A (p.Ser259=)
|
rs371707151
|
0.00003
|
|
NM_182914.3(SYNE2):c.17039G>A (p.Arg5680Gln)
|
rs554186246
|
0.00003
|
|
NM_182914.3(SYNE2):c.18963G>T (p.Leu6321=)
|
rs757232346
|
0.00003
|
|
NM_182914.3(SYNE2):c.6880-4G>A
|
rs776756586
|
0.00003
|
|
NM_182961.4(SYNE1):c.5250A>G (p.Pro1750=)
|
rs368364250
|
0.00003
|
|
NM_183235.3(RAB27A):c.344-10A>G
|
rs199702031
|
0.00003
|
|
NM_183357.3(ADCY5):c.203G>C (p.Arg68Pro)
|
rs776480737
|
0.00003
|
|
NM_183357.3(ADCY5):c.2632G>T (p.Ala878Ser)
|
rs146316902
|
0.00003
|
|
NM_194248.3(OTOF):c.1699G>A (p.Ala567Thr)
|
rs771560305
|
0.00003
|
|
NM_194248.3(OTOF):c.1713G>A (p.Leu571=)
|
rs397517935
|
0.00003
|
|
NM_194248.3(OTOF):c.2147G>A (p.Ser716Asn)
|
rs147657016
|
0.00003
|
|
NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln)
|
rs373681505
|
0.00003
|
|
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp)
|
rs774530840
|
0.00003
|
|
NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys)
|
rs745399096
|
0.00003
|
|
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His)
|
rs200283244
|
0.00003
|
|
NM_198053.3(CD247):c.58+8C>T
|
rs201494226
|
0.00003
|
|
NM_198253.3(TERT):c.2145C>T (p.Gly715=)
|
rs769467251
|
0.00003
|
|
NM_198576.4(AGRN):c.749A>C (p.Asn250Thr)
|
rs753435616
|
0.00003
|
|
NM_198578.4(LRRK2):c.1446A>G (p.Ala482=)
|
rs757454147
|
0.00003
|
|
NM_198904.4(GABRG2):c.394A>T (p.Ile132Phe)
|
rs752621588
|
0.00003
|
|
NM_201384.3(PLEC):c.12585C>T (p.Ile4195=)
|
rs1002095432
|
0.00003
|
|
NM_206933.4(USH2A):c.10497T>C (p.Pro3499=)
|
rs749177032
|
0.00003
|
|
NM_206933.4(USH2A):c.3800C>T (p.Ala1267Val)
|
rs768141777
|
0.00003
|
|
NM_206933.4(USH2A):c.4958G>A (p.Arg1653Gln)
|
rs372436408
|
0.00003
|
|
NM_206933.4(USH2A):c.6618A>G (p.Gln2206=)
|
rs745614158
|
0.00003
|
|
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His)
|
rs778272177
|
0.00003
|
|
NM_206933.4(USH2A):c.9989A>T (p.Asn3330Ile)
|
rs397518050
|
0.00003
|
|
NM_206937.2(LIG4):c.2274T>C (p.Tyr758=)
|
rs529756815
|
0.00003
|
|
NM_000016.6(ACADM):c.276A>G (p.Pro92=)
|
rs1212443202
|
0.00002
|
|
NM_000016.6(ACADM):c.927C>T (p.Phe309=)
|
rs771550655
|
0.00002
|
|
NM_000018.4(ACADVL):c.477+8C>T
|
rs1437698813
|
0.00002
|
|
NM_000018.4(ACADVL):c.519C>T (p.Gly173=)
|
rs757830946
|
0.00002
|
|
NM_000018.4(ACADVL):c.858G>A (p.Arg286=)
|
rs531514327
|
0.00002
|
|
NM_000018.4(ACADVL):c.957G>A (p.Ser319=)
|
rs143870522
|
0.00002
|
|
NM_000020.3(ACVRL1):c.270C>T (p.Cys90=)
|
rs556168617
|
0.00002
|
|
NM_000020.3(ACVRL1):c.429C>T (p.Val143=)
|
rs762047618
|
0.00002
|
|
NM_000022.4(ADA):c.282C>T (p.Gly94=)
|
rs771207375
|
0.00002
|
|
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile)
|
rs782701925
|
0.00002
|
|
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp)
|
rs782359412
|
0.00002
|
|
NM_000033.4(ABCD1):c.515G>A (p.Arg172His)
|
rs541171928
|
0.00002
|
|
NM_000035.4(ALDOB):c.255C>T (p.Tyr85=)
|
rs761063847
|
0.00002
|
|
NM_000035.4(ALDOB):c.954T>C (p.Ala318=)
|
rs572044496
|
0.00002
|
|
NM_000037.4(ANK1):c.1563C>T (p.Ala521=)
|
rs762615459
|
0.00002
|
|
NM_000037.4(ANK1):c.5520C>T (p.Ala1840=)
|
rs116148295
|
0.00002
|
|
NM_000038.6(APC):c.1589T>C (p.Val530Ala)
|
rs202199891
|
0.00002
|
|
NM_000038.6(APC):c.1685C>T (p.Thr562Met)
|
rs587783034
|
0.00002
|
|
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)
|
rs756859993
|
0.00002
|
|
NM_000038.6(APC):c.2444A>C (p.Asn815Thr)
|
rs762990578
|
0.00002
|
|
NM_000038.6(APC):c.5147A>G (p.Asn1716Ser)
|
rs141298709
|
0.00002
|
|
NM_000038.6(APC):c.5363G>A (p.Arg1788His)
|
rs201472075
|
0.00002
|
|
NM_000038.6(APC):c.5752A>G (p.Ile1918Val)
|
rs776966222
|
0.00002
|
|
NM_000038.6(APC):c.835-3T>C
|
rs372090940
|
0.00002
|
|
NM_000046.5(ARSB):c.246G>A (p.Leu82=)
|
rs1035210606
|
0.00002
|
|
NM_000048.4(ASL):c.243G>C (p.Leu81=)
|
rs774204716
|
0.00002
|
|
NM_000048.4(ASL):c.919-4G>A
|
rs756230523
|
0.00002
|
|
NM_000051.4(ATM):c.1237C>T (p.Leu413=)
|
rs1565381686
|
0.00002
|
|
NM_000051.4(ATM):c.1271C>A (p.Pro424His)
|
rs147472613
|
0.00002
|
|
NM_000051.4(ATM):c.2638+6T>C
|
rs768305533
|
0.00002
|
|
NM_000051.4(ATM):c.5002C>T (p.Leu1668=)
|
rs747317946
|
0.00002
|
|
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)
|
rs538452060
|
0.00002
|
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
|
NM_000051.4(ATM):c.6396A>G (p.Leu2132=)
|
rs370537345
|
0.00002
|
|
NM_000051.4(ATM):c.660G>A (p.Ala220=)
|
rs763669136
|
0.00002
|
|
NM_000051.4(ATM):c.8268+6T>A
|
rs747153940
|
0.00002
|
|
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile)
|
rs781952393
|
0.00002
|
|
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr)
|
rs146119866
|
0.00002
|
|
NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys)
|
rs1557238006
|
0.00002
|
|
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)
|
rs1385333276
|
0.00002
|
|
NM_000052.7(ATP7A):c.3775A>G (p.Lys1259Glu)
|
rs782428979
|
0.00002
|
|
NM_000052.7(ATP7A):c.4352G>A (p.Gly1451Asp)
|
rs782232632
|
0.00002
|
|
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)
|
rs782364202
|
0.00002
|
|
NM_000053.4(ATP7B):c.1122C>G (p.Val374=)
|
rs201254466
|
0.00002
|
|
NM_000053.4(ATP7B):c.1230A>G (p.Pro410=)
|
rs772843652
|
0.00002
|
|
NM_000053.4(ATP7B):c.2374C>T (p.Leu792=)
|
rs757244072
|
0.00002
|
|
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=)
|
rs761183334
|
0.00002
|
|
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=)
|
rs564541246
|
0.00002
|
|
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His)
|
rs80358398
|
0.00002
|
|
NM_000059.4(BRCA2):c.2299A>C (p.Ser767Arg)
|
rs750755676
|
0.00002
|
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
|
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr)
|
rs80358822
|
0.00002
|
|
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys)
|
rs397507875
|
0.00002
|
|
NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser)
|
rs146120136
|
0.00002
|
|
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)
|
rs80359241
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His)
|
rs553739117
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1519G>A (p.Gly507Ser)
|
rs554729466
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1531A>C (p.Ile511Leu)
|
rs748021245
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn)
|
rs373525085
|
0.00002
|
|
NM_000069.3(CACNA1S):c.2407A>G (p.Asn803Asp)
|
rs561979536
|
0.00002
|
|
NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His)
|
rs545411173
|
0.00002
|
|
NM_000069.3(CACNA1S):c.2853+18C>T
|
rs768391679
|
0.00002
|
|
NM_000069.3(CACNA1S):c.3053+19C>G
|
rs372276351
|
0.00002
|
|
NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe)
|
rs774511818
|
0.00002
|
|
NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met)
|
rs1224786667
|
0.00002
|
|
NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala)
|
rs373248127
|
0.00002
|
|
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile)
|
rs138265497
|
0.00002
|
|
NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn)
|
rs191263754
|
0.00002
|
|
NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met)
|
rs767790285
|
0.00002
|
|
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=)
|
rs754213830
|
0.00002
|
|
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser)
|
rs375704313
|
0.00002
|
|
NM_000070.3(CAPN3):c.1302C>T (p.Asn434=)
|
rs751429914
|
0.00002
|
|
NM_000070.3(CAPN3):c.1422G>A (p.Ser474=)
|
rs367855757
|
0.00002
|
|
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=)
|
rs766750333
|
0.00002
|
|
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)
|
rs534253913
|
0.00002
|
|
NM_000091.5(COL4A3):c.4027+10C>T
|
rs778737711
|
0.00002
|
|
NM_000092.5(COL4A4):c.110A>G (p.Tyr37Cys)
|
rs750707504
|
0.00002
|
|
NM_000092.5(COL4A4):c.1560T>G (p.Pro520=)
|
rs374935235
|
0.00002
|
|
NM_000092.5(COL4A4):c.3355A>G (p.Arg1119Gly)
|
rs778458961
|
0.00002
|
|
NM_000092.5(COL4A4):c.372+7A>G
|
rs1483461114
|
0.00002
|
|
NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val)
|
rs571869797
|
0.00002
|
|
NM_000092.5(COL4A4):c.4264G>A (p.Val1422Ile)
|
rs368105222
|
0.00002
|
|
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys)
|
rs758475317
|
0.00002
|
|
NM_000093.5(COL5A1):c.5371-8T>C
|
rs1352923765
|
0.00002
|
|
NM_000094.4(COL7A1):c.2249C>T (p.Thr750Met)
|
rs377763372
|
0.00002
|
|
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=)
|
rs773201784
|
0.00002
|
|
NM_000094.4(COL7A1):c.3565A>G (p.Met1189Val)
|
rs546776797
|
0.00002
|
|
NM_000094.4(COL7A1):c.4636-9T>C
|
rs760840151
|
0.00002
|
|
NM_000094.4(COL7A1):c.477T>C (p.Ala159=)
|
rs910778254
|
0.00002
|
|
NM_000094.4(COL7A1):c.5532+8T>C
|
rs1321882939
|
0.00002
|
|
NM_000094.4(COL7A1):c.5701-10C>T
|
rs1471404340
|
0.00002
|
|
NM_000094.4(COL7A1):c.6045G>A (p.Gly2015=)
|
rs934784670
|
0.00002
|
|
NM_000096.4(CP):c.229G>C (p.Asp77His)
|
rs200683433
|
0.00002
|
|
NM_000096.4(CP):c.2310G>A (p.Lys770=)
|
rs553883583
|
0.00002
|
|
NM_000098.3(CPT2):c.340+10C>G
|
rs781682674
|
0.00002
|
|
NM_000101.4(CYBA):c.528G>A (p.Ala176=)
|
rs762277251
|
0.00002
|
|
NM_000103.4(CYP19A1):c.1113C>T (p.Asp371=)
|
rs774007712
|
0.00002
|
|
NM_000108.5(DLD):c.1503G>A (p.Ala501=)
|
rs766286119
|
0.00002
|
|
NM_000108.5(DLD):c.597A>T (p.Thr199=)
|
rs768248572
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
|
rs782564325
|
0.00002
|
|
NM_000127.3(EXT1):c.210A>G (p.Gln70=)
|
rs367543871
|
0.00002
|
|
NM_000128.4(F11):c.696T>C (p.His232=)
|
rs746382259
|
0.00002
|
|
NM_000130.5(F5):c.3402C>A (p.Asp1134Glu)
|
rs373880789
|
0.00002
|
|
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys)
|
rs750257902
|
0.00002
|
|
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu)
|
rs531100141
|
0.00002
|
|
NM_000135.4(FANCA):c.1226-12G>C
|
rs36011345
|
0.00002
|
|
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys)
|
rs780135578
|
0.00002
|
|
NM_000135.4(FANCA):c.1567-11C>A
|
rs34353618
|
0.00002
|
|
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys)
|
rs587778312
|
0.00002
|
|
NM_000135.4(FANCA):c.2109G>C (p.Gln703His)
|
rs371458363
|
0.00002
|
|
NM_000135.4(FANCA):c.2383A>G (p.Arg795Gly)
|
rs767455904
|
0.00002
|
|
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser)
|
rs762439008
|
0.00002
|
|
NM_000135.4(FANCA):c.2622A>G (p.Arg874=)
|
rs1441752228
|
0.00002
|
|
NM_000135.4(FANCA):c.2667C>T (p.Ala889=)
|
rs771425634
|
0.00002
|
|
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)
|
rs777825824
|
0.00002
|
|
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
|
rs146062039
|
0.00002
|
|
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)
|
rs142833057
|
0.00002
|
|
NM_000135.4(FANCA):c.386C>T (p.Ala129Val)
|
rs577625130
|
0.00002
|
|
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val)
|
rs201886956
|
0.00002
|
|
NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala)
|
rs753944130
|
0.00002
|
|
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met)
|
rs145148206
|
0.00002
|
|
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu)
|
rs769243354
|
0.00002
|
|
NM_000135.4(FANCA):c.604G>A (p.Asp202Asn)
|
rs779131886
|
0.00002
|
|
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys)
|
rs201992220
|
0.00002
|
|
NM_000135.4(FANCA):c.87G>A (p.Arg29=)
|
rs760787108
|
0.00002
|
|
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg)
|
rs201063698
|
0.00002
|
|
NM_000137.4(FAH):c.391C>T (p.Arg131Trp)
|
rs147946196
|
0.00002
|
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
|
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn)
|
rs749253325
|
0.00002
|
|
NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val)
|
rs1183556572
|
0.00002
|
|
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His)
|
rs137854456
|
0.00002
|
|
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys)
|
rs371103773
|
0.00002
|
|
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile)
|
rs140626
|
0.00002
|
|
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu)
|
rs371110611
|
0.00002
|
|
NM_000141.5(FGFR2):c.2040C>T (p.Tyr680=)
|
rs751495618
|
0.00002
|
|
NM_000141.5(FGFR2):c.2106G>A (p.Ser702=)
|
rs794727163
|
0.00002
|
|
NM_000142.5(FGFR3):c.2418G>A (p.Thr806=)
|
rs779088139
|
0.00002
|
|
NM_000147.5(FUCA1):c.1260+7A>C
|
rs771229488
|
0.00002
|
|
NM_000152.5(GAA):c.1053G>T (p.Val351=)
|
rs773063199
|
0.00002
|
|
NM_000152.5(GAA):c.1275G>A (p.Pro425=)
|
rs762826072
|
0.00002
|
|
NM_000152.5(GAA):c.1560C>T (p.Asn520=)
|
rs116322271
|
0.00002
|
|
NM_000152.5(GAA):c.1881C>T (p.Ser627=)
|
rs779328815
|
0.00002
|
|
NM_000152.5(GAA):c.216C>T (p.Pro72=)
|
rs753287841
|
0.00002
|
|
NM_000152.5(GAA):c.309C>T (p.Cys103=)
|
rs373307393
|
0.00002
|
|
NM_000152.5(GAA):c.67A>G (p.Thr23Ala)
|
rs2289537
|
0.00002
|
|
NM_000152.5(GAA):c.687C>T (p.Arg229=)
|
rs149814041
|
0.00002
|
|
NM_000153.4(GALC):c.1587G>A (p.Thr529=)
|
rs184748969
|
0.00002
|
|
NM_000153.4(GALC):c.318G>A (p.Gly106=)
|
rs886050867
|
0.00002
|
|
NM_000153.4(GALC):c.583-4G>T
|
rs751820306
|
0.00002
|
|
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
|
rs757297254
|
0.00002
|
|
NM_000158.4(GBE1):c.556-6C>T
|
rs754051144
|
0.00002
|
|
NM_000159.4(GCDH):c.1083-10C>T
|
rs756372984
|
0.00002
|
|
NM_000163.5(GHR):c.206C>T (p.Thr69Ile)
|
rs75028043
|
0.00002
|
|
NM_000166.6(GJB1):c.699G>A (p.Ser233=)
|
rs769112084
|
0.00002
|
|
NM_000191.3(HMGCL):c.828G>A (p.Leu276=)
|
rs771024022
|
0.00002
|
|
NM_000199.5(SGSH):c.1371T>C (p.Phe457=)
|
rs867660906
|
0.00002
|
|
NM_000199.5(SGSH):c.153C>T (p.Asp51=)
|
rs372226239
|
0.00002
|
|
NM_000199.5(SGSH):c.537C>T (p.Asp179=)
|
rs771440037
|
0.00002
|
|
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val)
|
rs527336882
|
0.00002
|
|
NM_000203.5(IDUA):c.237C>T (p.Ala79=)
|
rs769676234
|
0.00002
|
|
NM_000203.5(IDUA):c.793-5C>T
|
rs773072991
|
0.00002
|
|
NM_000206.3(IL2RG):c.1061A>G (p.His354Arg)
|
rs771221019
|
0.00002
|
|
NM_000206.3(IL2RG):c.1076C>T (p.Ala359Val)
|
rs767383120
|
0.00002
|
|
NM_000211.5(ITGB2):c.1125C>T (p.Pro375=)
|
rs754762370
|
0.00002
|
|
NM_000211.5(ITGB2):c.59-9G>A
|
rs141780263
|
0.00002
|
|
NM_000213.5(ITGB4):c.5301C>T (p.His1767=)
|
rs963564866
|
0.00002
|
|
NM_000215.4(JAK3):c.114C>A (p.Pro38=)
|
rs1448668382
|
0.00002
|
|
NM_000215.4(JAK3):c.1653A>G (p.Thr551=)
|
rs201698409
|
0.00002
|
|
NM_000215.4(JAK3):c.2692C>T (p.Leu898=)
|
rs202043320
|
0.00002
|
|
NM_000228.3(LAMB3):c.2556+7G>A
|
rs201280220
|
0.00002
|
|
NM_000243.3(MEFV):c.1089C>T (p.Ser363=)
|
rs104895170
|
0.00002
|
|
NM_000243.3(MEFV):c.192G>A (p.Glu64=)
|
rs547393490
|
0.00002
|
|
NM_000243.3(MEFV):c.344C>G (p.Pro115Arg)
|
rs201766654
|
0.00002
|
|
NM_000246.4(CIITA):c.1527C>T (p.Gly509=)
|
rs1427227633
|
0.00002
|
|
NM_000246.4(CIITA):c.2343G>A (p.Ser781=)
|
rs749019138
|
0.00002
|
|
NM_000246.4(CIITA):c.3207G>A (p.Pro1069=)
|
rs772387879
|
0.00002
|
|
NM_000246.4(CIITA):c.3318-8C>G
|
rs201115726
|
0.00002
|
|
NM_000252.3(MTM1):c.528+7T>C
|
rs782460237
|
0.00002
|
|
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn)
|
rs145520567
|
0.00002
|
|
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met)
|
rs782681743
|
0.00002
|
|
NM_000260.4(MYO7A):c.1209C>T (p.Tyr403=)
|
rs782397746
|
0.00002
|
|
NM_000260.4(MYO7A):c.2149G>A (p.Asp717Asn)
|
rs782696212
|
0.00002
|
|
NM_000260.4(MYO7A):c.3503+10G>A
|
rs782049232
|
0.00002
|
|
NM_000260.4(MYO7A):c.5004C>T (p.Tyr1668=)
|
rs1479835169
|
0.00002
|
|
NM_000260.4(MYO7A):c.5166C>T (p.Phe1722=)
|
rs566614598
|
0.00002
|
|
NM_000260.4(MYO7A):c.5195G>A (p.Arg1732His)
|
rs760544219
|
0.00002
|
|
NM_000260.4(MYO7A):c.5327-10C>T
|
rs781062618
|
0.00002
|
|
NM_000260.4(MYO7A):c.5547C>A (p.Ile1849=)
|
rs548939171
|
0.00002
|
|
NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys)
|
rs144323077
|
0.00002
|
|
NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=)
|
rs755755175
|
0.00002
|
|
NM_000264.5(PTCH1):c.521C>T (p.Ala174Val)
|
rs772368023
|
0.00002
|
|
NM_000268.4(NF2):c.600-13G>A
|
rs374509697
|
0.00002
|
|
NM_000271.5(NPC1):c.1819C>A (p.Arg607=)
|
rs377130051
|
0.00002
|
|
NM_000271.5(NPC1):c.2337C>T (p.Phe779=)
|
rs367654655
|
0.00002
|
|
NM_000271.5(NPC1):c.2347T>C (p.Leu783=)
|
rs200384578
|
0.00002
|
|
NM_000274.4(OAT):c.1245G>A (p.Ala415=)
|
rs751449034
|
0.00002
|
|
NM_000274.4(OAT):c.477C>T (p.Thr159=)
|
rs575839041
|
0.00002
|
|
NM_000276.4(OCRL):c.2066G>A (p.Arg689His)
|
rs748186190
|
0.00002
|
|
NM_000277.3(PAH):c.442-14C>T
|
rs775806999
|
0.00002
|
|
NM_000277.3(PAH):c.870T>C (p.His290=)
|
rs751203209
|
0.00002
|
|
NM_000282.4(PCCA):c.638-5G>A
|
rs764316702
|
0.00002
|
|
NM_000290.4(PGAM2):c.252T>C (p.Thr84=)
|
rs755125202
|
0.00002
|
|
NM_000302.4(PLOD1):c.1902+9G>T
|
rs200395169
|
0.00002
|
|
NM_000302.4(PLOD1):c.742-6C>T
|
rs569632202
|
0.00002
|
|
NM_000310.4(PPT1):c.537-12T>C
|
rs1057515556
|
0.00002
|
|
NM_000317.3(PTS):c.186+9A>G
|
rs202139885
|
0.00002
|
|
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys)
|
rs544763390
|
0.00002
|
|
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg)
|
rs374157786
|
0.00002
|
|
NM_000329.3(RPE65):c.353+7G>A
|
rs773557127
|
0.00002
|
|
NM_000335.5(SCN5A):c.1035C>T (p.Gly345=)
|
rs764026969
|
0.00002
|
|
NM_000335.5(SCN5A):c.2001C>T (p.Ser667=)
|
rs587781161
|
0.00002
|
|
NM_000335.5(SCN5A):c.3316G>A (p.Glu1106Lys)
|
rs199473193
|
0.00002
|
|
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)
|
rs561922849
|
0.00002
|
|
NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=)
|
rs371610895
|
0.00002
|
|
NM_000335.5(SCN5A):c.436G>A (p.Val146Met)
|
rs199473061
|
0.00002
|
|
NM_000335.5(SCN5A):c.495C>T (p.Thr165=)
|
rs62242804
|
0.00002
|
|
NM_000336.3(SCNN1B):c.1663C>T (p.Leu555=)
|
rs779990343
|
0.00002
|
|
NM_000342.4(SLC4A1):c.1284A>G (p.Gly428=)
|
rs387907516
|
0.00002
|
|
NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys)
|
rs13306787
|
0.00002
|
|
NM_000343.4(SLC5A1):c.1725G>A (p.Ala575=)
|
rs368853644
|
0.00002
|
|
NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=)
|
rs886046565
|
0.00002
|
|
NM_000350.3(ABCA4):c.3540G>A (p.Ser1180=)
|
rs767212006
|
0.00002
|
|
NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=)
|
rs763857670
|
0.00002
|
|
NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=)
|
rs137868047
|
0.00002
|
|
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=)
|
rs1345535328
|
0.00002
|
|
NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=)
|
rs773042150
|
0.00002
|
|
NM_000360.4(TH):c.1422C>T (p.Ala474=)
|
rs375735482
|
0.00002
|
|
NM_000360.4(TH):c.216C>T (p.Ala72=)
|
rs773288225
|
0.00002
|
|
NM_000360.4(TH):c.360G>A (p.Arg120=)
|
rs761868828
|
0.00002
|
|
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe)
|
rs868755168
|
0.00002
|
|
NM_000368.5(TSC1):c.569G>A (p.Arg190His)
|
rs118203402
|
0.00002
|
|
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln)
|
rs375956049
|
0.00002
|
|
NM_000377.3(WAS):c.1049C>T (p.Ala350Val)
|
rs1307143057
|
0.00002
|
|
NM_000381.4(MID1):c.250G>A (p.Asp84Asn)
|
rs374851071
|
0.00002
|
|
NM_000384.3(APOB):c.10114T>G (p.Ser3372Ala)
|
rs138850232
|
0.00002
|
|
NM_000384.3(APOB):c.1075A>G (p.Ser359Gly)
|
rs757383498
|
0.00002
|
|
NM_000384.3(APOB):c.11309T>G (p.Ile3770Ser)
|
rs199954127
|
0.00002
|
|
NM_000384.3(APOB):c.11339C>T (p.Ala3780Val)
|
rs755025293
|
0.00002
|
|
NM_000384.3(APOB):c.12779A>G (p.His4260Arg)
|
rs781061676
|
0.00002
|
|
NM_000384.3(APOB):c.12851T>C (p.Phe4284Ser)
|
rs750204106
|
0.00002
|
|
NM_000384.3(APOB):c.12890G>A (p.Arg4297His)
|
rs375701380
|
0.00002
|
|
NM_000384.3(APOB):c.13130T>C (p.Ile4377Thr)
|
rs778174655
|
0.00002
|
|
NM_000384.3(APOB):c.2115T>G (p.Phe705Leu)
|
rs747520197
|
0.00002
|
|
NM_000384.3(APOB):c.2821A>T (p.Thr941Ser)
|
rs748256431
|
0.00002
|
|
NM_000384.3(APOB):c.3271A>G (p.Arg1091Gly)
|
rs368122382
|
0.00002
|
|
NM_000384.3(APOB):c.3935T>C (p.Met1312Thr)
|
rs763989940
|
0.00002
|
|
NM_000384.3(APOB):c.4181A>G (p.Asp1394Gly)
|
rs769694008
|
0.00002
|
|
NM_000384.3(APOB):c.4279C>T (p.Arg1427Cys)
|
rs759979553
|
0.00002
|
|
NM_000384.3(APOB):c.4850G>A (p.Gly1617Glu)
|
rs146341569
|
0.00002
|
|
NM_000384.3(APOB):c.5038G>T (p.Ala1680Ser)
|
rs372282063
|
0.00002
|
|
NM_000384.3(APOB):c.544G>A (p.Val182Met)
|
rs769838164
|
0.00002
|
|
NM_000384.3(APOB):c.9095C>A (p.Thr3032Asn)
|
rs754332101
|
0.00002
|
|
NM_000387.6(SLC25A20):c.719-10T>C
|
rs769684089
|
0.00002
|
|
NM_000387.6(SLC25A20):c.894C>A (p.Thr298=)
|
rs766966542
|
0.00002
|
|
NM_000390.4(CHM):c.1771-8T>C
|
rs912390081
|
0.00002
|
|
NM_000391.4(TPP1):c.425T>G (p.Val142Gly)
|
rs775217501
|
0.00002
|
|
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu)
|
rs773546205
|
0.00002
|
|
NM_000392.5(ABCC2):c.306C>A (p.Thr102=)
|
rs559908064
|
0.00002
|
|
NM_000392.5(ABCC2):c.4431G>A (p.Thr1477=)
|
rs146718433
|
0.00002
|
|
NM_000399.5(EGR2):c.108G>A (p.Val36=)
|
rs746579337
|
0.00002
|
|
NM_000399.5(EGR2):c.1395G>A (p.Pro465=)
|
rs779811073
|
0.00002
|
|
NM_000400.4(ERCC2):c.1665+17C>A
|
rs774329591
|
0.00002
|
|
NM_000414.4(HSD17B4):c.1278A>T (p.Glu426Asp)
|
rs780820166
|
0.00002
|
|
NM_000417.3(IL2RA):c.669G>A (p.Gln223=)
|
rs539966138
|
0.00002
|
|
NM_000419.5(ITGA2B):c.3061-4C>T
|
rs530669664
|
0.00002
|
|
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys)
|
rs143626559
|
0.00002
|
|
NM_000426.4(LAMA2):c.4188G>A (p.Pro1396=)
|
rs369076029
|
0.00002
|
|
NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val)
|
rs75048006
|
0.00002
|
|
NM_000429.3(MAT1A):c.1059C>T (p.Phe353=)
|
rs777896485
|
0.00002
|
|
NM_000429.3(MAT1A):c.1074C>T (p.Gly358=)
|
rs373567910
|
0.00002
|
|
NM_000429.3(MAT1A):c.642G>A (p.Thr214=)
|
rs539772339
|
0.00002
|
|
NM_000430.4(PAFAH1B1):c.569-4T>G
|
rs765106555
|
0.00002
|
|
NM_000430.4(PAFAH1B1):c.794C>T (p.Thr265Ile)
|
rs769280736
|
0.00002
|
|
NM_000433.4(NCF2):c.196C>A (p.Arg66=)
|
rs750782115
|
0.00002
|
|
NM_000435.3(NOTCH3):c.2450C>T (p.Pro817Leu)
|
rs142405648
|
0.00002
|
|
NM_000443.4(ABCB4):c.201C>T (p.His67=)
|
rs747703354
|
0.00002
|
|
NM_000443.4(ABCB4):c.2811T>C (p.Tyr937=)
|
rs1461886025
|
0.00002
|
|
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=)
|
rs766402494
|
0.00002
|
|
NM_000443.4(ABCB4):c.54G>A (p.Glu18=)
|
rs141141860
|
0.00002
|
|
NM_000443.4(ABCB4):c.717G>A (p.Ser239=)
|
rs770169131
|
0.00002
|
|
NM_000452.3(SLC10A2):c.246A>G (p.Thr82=)
|
rs761652195
|
0.00002
|
|
NM_000454.5(SOD1):c.66G>A (p.Glu22=)
|
rs756458346
|
0.00002
|
|
NM_000455.5(STK11):c.1229C>T (p.Ala410Val)
|
rs372329880
|
0.00002
|
|
NM_000455.5(STK11):c.464+5G>A
|
rs587781681
|
0.00002
|
|
NM_000455.5(STK11):c.735C>G (p.Leu245=)
|
rs773147894
|
0.00002
|
|
NM_000455.5(STK11):c.944C>T (p.Pro315Leu)
|
rs766958608
|
0.00002
|
|
NM_000460.4(THPO):c.9G>A (p.Leu3=)
|
rs577831346
|
0.00002
|
|
NM_000478.6(ALPL):c.306C>T (p.Asn102=)
|
rs1015578994
|
0.00002
|
|
NM_000487.6(ARSA):c.510C>T (p.Cys170=)
|
rs1483727422
|
0.00002
|
|
NM_000489.6(ATRX):c.1130C>T (p.Ala377Val)
|
rs781955237
|
0.00002
|
|
NM_000489.6(ATRX):c.1468G>A (p.Gly490Ser)
|
rs1378005125
|
0.00002
|
|
NM_000489.6(ATRX):c.1758A>G (p.Leu586=)
|
rs781987630
|
0.00002
|
|
NM_000489.6(ATRX):c.2212C>G (p.Leu738Val)
|
rs782470087
|
0.00002
|
|
NM_000489.6(ATRX):c.3133A>G (p.Lys1045Glu)
|
rs1332447363
|
0.00002
|
|
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn)
|
rs1308342676
|
0.00002
|
|
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=)
|
rs3761507
|
0.00002
|
|
NM_000489.6(ATRX):c.3664G>A (p.Asp1222Asn)
|
rs782520515
|
0.00002
|
|
NM_000492.4(CFTR):c.2259C>T (p.Ser753=)
|
rs201888075
|
0.00002
|
|
NM_000492.4(CFTR):c.2908+19G>C
|
rs370683572
|
0.00002
|
|
NM_000492.4(CFTR):c.869+8G>T
|
rs773933167
|
0.00002
|
|
NM_000498.3(CYP11B2):c.1227G>A (p.Ser409=)
|
rs61757291
|
0.00002
|
|
NM_000498.3(CYP11B2):c.537C>T (p.Asn179=)
|
rs200206561
|
0.00002
|
|
NM_000501.4(ELN):c.2131+14C>T
|
rs782790041
|
0.00002
|
|
NM_000506.5(F2):c.882C>T (p.Ala294=)
|
rs370819135
|
0.00002
|
|
NM_000512.5(GALNS):c.1059G>A (p.Ala353=)
|
rs768334388
|
0.00002
|
|
NM_000512.5(GALNS):c.256C>T (p.Leu86=)
|
rs190707335
|
0.00002
|
|
NM_000520.6(HEXA):c.906C>T (p.Ser302=)
|
rs765612435
|
0.00002
|
|
NM_000521.4(HEXB):c.1083-14A>C
|
rs776536464
|
0.00002
|
|
NM_000527.5(LDLR):c.-13A>G
|
rs376011618
|
0.00002
|
|
NM_000527.5(LDLR):c.1706-21_1706-19del
|
rs386134242
|
0.00002
|
|
NM_000527.5(LDLR):c.2100C>T (p.Asp700=)
|
rs759858813
|
0.00002
|
|
NM_000527.5(LDLR):c.2307C>G (p.His769Gln)
|
rs760479588
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1109+10G>A
|
rs779635675
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=)
|
rs771761940
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=)
|
rs561895292
|
0.00002
|
|
NM_000531.6(OTC):c.216+9C>T
|
rs774764719
|
0.00002
|
|
NM_000532.5(PCCB):c.45C>T (p.Ser15=)
|
rs754664563
|
0.00002
|
|
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)
|
rs549397464
|
0.00002
|
|
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=)
|
rs774663618
|
0.00002
|
|
NM_000540.3(RYR1):c.10729C>T (p.Arg3577Trp)
|
rs538497899
|
0.00002
|
|
NM_000540.3(RYR1):c.11385C>T (p.Ser3795=)
|
rs757745087
|
0.00002
|
|
NM_000540.3(RYR1):c.11443A>T (p.Met3815Leu)
|
rs368909156
|
0.00002
|
|
NM_000540.3(RYR1):c.12187A>G (p.Met4063Val)
|
rs181968345
|
0.00002
|
|
NM_000540.3(RYR1):c.12624+9A>G
|
rs548515798
|
0.00002
|
|
NM_000540.3(RYR1):c.13617C>T (p.Gly4539=)
|
rs2302296
|
0.00002
|
|
NM_000540.3(RYR1):c.14646+20C>G
|
rs371199096
|
0.00002
|
|
NM_000540.3(RYR1):c.14697G>A (p.Gly4899=)
|
rs770698609
|
0.00002
|
|
NM_000540.3(RYR1):c.14817C>T (p.Asp4939=)
|
rs193922895
|
0.00002
|
|
NM_000540.3(RYR1):c.1925+7C>T
|
rs559157737
|
0.00002
|
|
NM_000540.3(RYR1):c.3123C>T (p.Ala1041=)
|
rs569565316
|
0.00002
|
|
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=)
|
rs144164620
|
0.00002
|
|
NM_000540.3(RYR1):c.4710C>T (p.Asn1570=)
|
rs763113534
|
0.00002
|
|
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=)
|
rs374115286
|
0.00002
|
|
NM_000540.3(RYR1):c.5484C>T (p.Asp1828=)
|
rs775744847
|
0.00002
|
|
NM_000540.3(RYR1):c.6207A>G (p.Lys2069=)
|
rs920135778
|
0.00002
|
|
NM_000540.3(RYR1):c.7027+4A>T
|
rs753538619
|
0.00002
|
|
NM_000540.3(RYR1):c.7434C>G (p.Thr2478=)
|
rs747434152
|
0.00002
|
|
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=)
|
rs375997435
|
0.00002
|
|
NM_000540.3(RYR1):c.7615-5C>T
|
rs768008924
|
0.00002
|
|
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=)
|
rs762212220
|
0.00002
|
|
NM_000540.3(RYR1):c.8093T>C (p.Met2698Thr)
|
rs185021599
|
0.00002
|
|
NM_000540.3(RYR1):c.8466G>A (p.Thr2822=)
|
rs761622550
|
0.00002
|
|
NM_000540.3(RYR1):c.9122+8G>A
|
rs772116480
|
0.00002
|
|
NM_000540.3(RYR1):c.9555-14G>A
|
rs763353979
|
0.00002
|
|
NM_000540.3(RYR1):c.9825C>T (p.Pro3275=)
|
rs753425281
|
0.00002
|
|
NM_000546.6(TP53):c.665C>T (p.Pro222Leu)
|
rs146340390
|
0.00002
|
|
NM_000548.5(TSC2):c.1883G>A (p.Arg628His)
|
rs774895427
|
0.00002
|
|
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln)
|
rs766442736
|
0.00002
|
|
NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys)
|
rs767252128
|
0.00002
|
|
NM_000548.5(TSC2):c.2621C>T (p.Pro874Leu)
|
rs138527121
|
0.00002
|
|
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val)
|
rs1060500939
|
0.00002
|
|
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg)
|
rs45517338
|
0.00002
|
|
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu)
|
rs45517339
|
0.00002
|
|
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn)
|
rs886051795
|
0.00002
|
|
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser)
|
rs45505405
|
0.00002
|
|
NM_000553.6(WRN):c.3417T>C (p.Ser1139=)
|
rs752542644
|
0.00002
|
|
NM_000601.6(HGF):c.2019T>C (p.Tyr673=)
|
rs367800414
|
0.00002
|
|
NM_000642.3(AGL):c.2682-7T>C
|
rs375256646
|
0.00002
|
|
NM_000701.8(ATP1A1):c.1468-8C>T
|
rs764054683
|
0.00002
|
|
NM_000709.4(BCKDHA):c.1302C>T (p.Tyr434=)
|
rs398123491
|
0.00002
|
|
NM_000709.4(BCKDHA):c.798C>T (p.Asn266=)
|
rs772457864
|
0.00002
|
|
NM_000751.3(CHRND):c.893G>A (p.Arg298His)
|
rs139722128
|
0.00002
|
|
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=)
|
rs192344487
|
0.00002
|
|
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=)
|
rs776260288
|
0.00002
|
|
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=)
|
rs200506778
|
0.00002
|
|
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=)
|
rs751692931
|
0.00002
|
|
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=)
|
rs764766872
|
0.00002
|
|
NM_000823.4(GHRHR):c.870C>T (p.Val290=)
|
rs369716383
|
0.00002
|
|
NM_000836.4(GRIN2D):c.1434C>T (p.Arg478=)
|
rs149544539
|
0.00002
|
|
NM_001003800.2(BICD2):c.1477C>T (p.Arg493Cys)
|
rs146113445
|
0.00002
|
|
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=)
|
rs368325383
|
0.00002
|
|
NM_001005242.3(PKP2):c.387G>A (p.Gln129=)
|
rs768974835
|
0.00002
|
|
NM_001005373.4(LRSAM1):c.1159+13A>T
|
rs756667241
|
0.00002
|
|
NM_001008537.3(NEXMIF):c.1883G>A (p.Arg628Gln)
|
rs747436946
|
0.00002
|
|
NM_001012339.3(DNAJC21):c.279C>T (p.Thr93=)
|
rs541503410
|
0.00002
|
|
NM_001012339.3(DNAJC21):c.50A>G (p.Glu17Gly)
|
rs761693334
|
0.00002
|
|
NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met)
|
rs138192474
|
0.00002
|
|
NM_001018113.3(FANCB):c.1327-11_1327-10insC
|
rs1312589379
|
0.00002
|
|
NM_001025295.3(IFITM5):c.100C>T (p.Arg34Ter)
|
rs531009160
|
0.00002
|
|
NM_001025603.2(RFX5):c.1236A>G (p.Thr412=)
|
rs771403545
|
0.00002
|
|
NM_001025603.2(RFX5):c.1797G>A (p.Val599=)
|
rs772352167
|
0.00002
|
|
NM_001025603.2(RFX5):c.807T>G (p.Gly269=)
|
rs147137349
|
0.00002
|
|
NM_001025603.2(RFX5):c.858+13G>A
|
rs778371620
|
0.00002
|
|
NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp)
|
rs201706430
|
0.00002
|
|
NM_001032386.2(SUOX):c.192C>T (p.Leu64=)
|
rs577360771
|
0.00002
|
|
NM_001033855.3(DCLRE1C):c.1224G>A (p.Pro408=)
|
rs532892332
|
0.00002
|
|
NM_001034850.3(RETREG1):c.1182T>C (p.Ala394=)
|
rs886043753
|
0.00002
|
|
NM_001035.3(RYR2):c.1404G>A (p.Glu468=)
|
rs768538183
|
0.00002
|
|
NM_001035.3(RYR2):c.4899T>C (p.Pro1633=)
|
rs1060503853
|
0.00002
|
|
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu)
|
rs754364233
|
0.00002
|
|
NM_001035.3(RYR2):c.6083G>A (p.Arg2028His)
|
rs1313042151
|
0.00002
|
|
NM_001039141.3(TRIOBP):c.6472+19_6472+20insA
|
rs397769084
|
0.00002
|
|
NM_001039591.3(USP9X):c.3892T>C (p.Leu1298=)
|
rs1361298317
|
0.00002
|
|
NM_001039876.3(SYNE4):c.616C>T (p.Leu206=)
|
rs771897813
|
0.00002
|
|
NM_001040108.2(MLH3):c.3020A>G (p.Asn1007Ser)
|
rs776639203
|
0.00002
|
|
NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg)
|
rs541554381
|
0.00002
|
|
NM_001040716.2(PC):c.1377C>T (p.Ile459=)
|
rs201776268
|
0.00002
|
|
NM_001040716.2(PC):c.1514-13G>A
|
rs773976056
|
0.00002
|
|
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln)
|
rs148613404
|
0.00002
|
|
NM_001040716.2(PC):c.3213C>T (p.Ala1071=)
|
rs774982916
|
0.00002
|
|
NM_001040716.2(PC):c.543C>T (p.His181=)
|
rs139717038
|
0.00002
|
|
NM_001042492.3(NF1):c.1620G>T (p.Glu540Asp)
|
rs766748586
|
0.00002
|
|
NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg)
|
rs779546178
|
0.00002
|
|
NM_001042492.3(NF1):c.2294G>A (p.Arg765His)
|
rs199474777
|
0.00002
|
|
NM_001042492.3(NF1):c.3970A>G (p.Thr1324Ala)
|
rs189522993
|
0.00002
|
|
NM_001042492.3(NF1):c.4110+4T>C
|
rs587781700
|
0.00002
|
|
NM_001042492.3(NF1):c.5263A>G (p.Ile1755Val)
|
rs370181275
|
0.00002
|
|
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=)
|
rs199703296
|
0.00002
|
|
NM_001042492.3(NF1):c.623C>T (p.Ala208Val)
|
rs758624540
|
0.00002
|
|
NM_001042492.3(NF1):c.6851C>T (p.Thr2284Ile)
|
rs747881072
|
0.00002
|
|
NM_001042492.3(NF1):c.7457+8G>T
|
rs376147282
|
0.00002
|
|
NM_001042492.3(NF1):c.7869+6G>A
|
rs864622318
|
0.00002
|
|
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn)
|
rs934837854
|
0.00002
|
|
NM_001065.4(TNFRSF1A):c.228G>A (p.Gly76=)
|
rs104895274
|
0.00002
|
|
NM_001069.3(TUBB2A):c.602C>G (p.Ser201Cys)
|
rs1054331
|
0.00002
|
|
NM_001077525.3(MTMR14):c.540G>A (p.Glu180=)
|
rs993417750
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.1320C>T (p.Phe440=)
|
rs771829991
|
0.00002
|
|
NM_001080442.3(SLC38A8):c.633-5T>G
|
rs778342318
|
0.00002
|
|
NM_001080449.3(DNA2):c.1485A>G (p.Gln495=)
|
rs368855073
|
0.00002
|
|
NM_001080517.3(SETD5):c.13A>G (p.Ile5Val)
|
rs567415895
|
0.00002
|
|
NM_001080517.3(SETD5):c.3656A>G (p.Glu1219Gly)
|
rs1052957698
|
0.00002
|
|
NM_001080517.3(SETD5):c.382A>G (p.Ile128Val)
|
rs780263494
|
0.00002
|
|
NM_001083116.3(PRF1):c.1305G>A (p.Thr435=)
|
rs200167080
|
0.00002
|
|
NM_001083961.2(WDR62):c.1479C>T (p.Ala493=)
|
rs150656878
|
0.00002
|
|
NM_001099922.3(ALG13):c.1005+4A>G
|
rs758242204
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.251G>C (p.Cys84Ser)
|
rs999785767
|
0.00002
|
|
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)
|
rs782445995
|
0.00002
|
|
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr)
|
rs782240483
|
0.00002
|
|
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)
|
rs782400832
|
0.00002
|
|
NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly)
|
rs953454766
|
0.00002
|
|
NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile)
|
rs377518545
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.2777G>A (p.Arg926Gln)
|
rs1556861372
|
0.00002
|
|
NM_001112741.2(KCNC1):c.709C>T (p.Arg237Trp)
|
rs150993414
|
0.00002
|
|
NM_001114748.2(TMEM240):c.264C>T (p.Ile88=)
|
rs763953379
|
0.00002
|
|
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)
|
rs927607049
|
0.00002
|
|
NM_001114753.3(ENG):c.1806C>T (p.Ile602=)
|
rs373002544
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser)
|
rs762006290
|
0.00002
|
|
NM_001127671.2(LIFR):c.1485T>C (p.Ala495=)
|
rs759537735
|
0.00002
|
|
NM_001130823.3(DNMT1):c.867C>T (p.Asp289=)
|
rs750916721
|
0.00002
|
|
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp)
|
rs527435707
|
0.00002
|
|
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=)
|
rs769518034
|
0.00002
|
|
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met)
|
rs570860273
|
0.00002
|
|
NM_001130987.2(DYSF):c.3321C>T (p.Phe1107=)
|
rs945602962
|
0.00002
|
|
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=)
|
rs763309812
|
0.00002
|
|
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln)
|
rs957111625
|
0.00002
|
|
NM_001130987.2(DYSF):c.6254C>A (p.Ala2085Asp)
|
rs1271141178
|
0.00002
|
|
NM_001134363.3(RBM20):c.1135G>A (p.Gly379Arg)
|
rs199842148
|
0.00002
|
|
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp)
|
rs767827357
|
0.00002
|
|
NM_001134363.3(RBM20):c.2107A>G (p.Arg703Gly)
|
rs899167549
|
0.00002
|
|
NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val)
|
rs397516602
|
0.00002
|
|
NM_001134363.3(RBM20):c.3550G>A (p.Ala1184Thr)
|
rs1300657058
|
0.00002
|
|
NM_001134363.3(RBM20):c.83G>A (p.Gly28Asp)
|
rs1466787506
|
0.00002
|
|
NM_001134363.3(RBM20):c.954A>G (p.Gln318=)
|
rs766779254
|
0.00002
|
|
NM_001134407.3(GRIN2A):c.1380C>T (p.Cys460=)
|
rs375291296
|
0.00002
|
|
NM_001134407.3(GRIN2A):c.2650G>A (p.Asp884Asn)
|
rs777684328
|
0.00002
|
|
NM_001134407.3(GRIN2A):c.3338C>T (p.Pro1113Leu)
|
rs201698049
|
0.00002
|
|
NM_001142800.2(EYS):c.-351C>T
|
rs761045622
|
0.00002
|
|
NM_001142800.2(EYS):c.151T>C (p.Leu51=)
|
rs757997501
|
0.00002
|
|
NM_001145809.2(MYH14):c.5566C>T (p.Arg1856Trp)
|
rs539875477
|
0.00002
|
|
NM_001148.6(ANK2):c.11652A>G (p.Glu3884=)
|
rs752145926
|
0.00002
|
|
NM_001160372.4(TRAPPC9):c.2988G>A (p.Glu996=)
|
rs142048892
|
0.00002
|
|
NM_001161352.2(KCNMA1):c.3138C>G (p.Leu1046=)
|
rs766964098
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.149-7C>T
|
rs1316874319
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.382-10T>C
|
rs914753772
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.382-4A>C
|
rs923058912
|
0.00002
|
|
NM_001164507.2(NEB):c.21346G>A (p.Asp7116Asn)
|
rs372827767
|
0.00002
|
|
NM_001164508.2(NEB):c.10471A>G (p.Met3491Val)
|
rs761174573
|
0.00002
|
|
NM_001164508.2(NEB):c.10544G>A (p.Arg3515Gln)
|
rs748799656
|
0.00002
|
|
NM_001164508.2(NEB):c.11457G>A (p.Val3819=)
|
rs780152095
|
0.00002
|
|
NM_001164508.2(NEB):c.11716C>T (p.Arg3906Cys)
|
rs759419548
|
0.00002
|
|
NM_001164508.2(NEB):c.12258G>C (p.Leu4086=)
|
rs371771414
|
0.00002
|
|
NM_001164508.2(NEB):c.16735C>T (p.Arg5579Cys)
|
rs762876022
|
0.00002
|
|
NM_001164508.2(NEB):c.17161G>A (p.Val5721Met)
|
rs746737604
|
0.00002
|
|
NM_001164508.2(NEB):c.17185G>A (p.Asp5729Asn)
|
rs374867405
|
0.00002
|
|
NM_001164508.2(NEB):c.17938G>A (p.Ala5980Thr)
|
rs1267739726
|
0.00002
|
|
NM_001164508.2(NEB):c.18140A>G (p.Tyr6047Cys)
|
rs533393007
|
0.00002
|
|
NM_001164508.2(NEB):c.18255G>A (p.Met6085Ile)
|
rs553375465
|
0.00002
|
|
NM_001164508.2(NEB):c.18366+9G>A
|
rs759834773
|
0.00002
|
|
NM_001164508.2(NEB):c.18693+9_18693+10del
|
rs756671954
|
0.00002
|
|
NM_001164508.2(NEB):c.18830C>T (p.Thr6277Met)
|
rs371689870
|
0.00002
|
|
NM_001164508.2(NEB):c.19385C>T (p.Pro6462Leu)
|
rs369054525
|
0.00002
|
|
NM_001164508.2(NEB):c.19543C>T (p.Arg6515Cys)
|
rs765363585
|
0.00002
|
|
NM_001164508.2(NEB):c.19544G>A (p.Arg6515His)
|
rs757278862
|
0.00002
|
|
NM_001164508.2(NEB):c.19621A>C (p.Ser6541Arg)
|
rs779842159
|
0.00002
|
|
NM_001164508.2(NEB):c.20099T>C (p.Leu6700Pro)
|
rs560109089
|
0.00002
|
|
NM_001164508.2(NEB):c.20144A>G (p.Asn6715Ser)
|
rs536934629
|
0.00002
|
|
NM_001164508.2(NEB):c.20728G>A (p.Ala6910Thr)
|
rs750152377
|
0.00002
|
|
NM_001164508.2(NEB):c.21689C>T (p.Ala7230Val)
|
rs368315910
|
0.00002
|
|
NM_001164508.2(NEB):c.21916G>A (p.Ala7306Thr)
|
rs1289511955
|
0.00002
|
|
NM_001164508.2(NEB):c.22984C>T (p.His7662Tyr)
|
rs373852098
|
0.00002
|
|
NM_001164508.2(NEB):c.23198C>T (p.Pro7733Leu)
|
rs372387518
|
0.00002
|
|
NM_001164508.2(NEB):c.23650-5T>G
|
rs773618223
|
0.00002
|
|
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His)
|
rs759962661
|
0.00002
|
|
NM_001164508.2(NEB):c.2490G>A (p.Leu830=)
|
rs1259136731
|
0.00002
|
|
NM_001164508.2(NEB):c.25028G>A (p.Arg8343Gln)
|
rs886054926
|
0.00002
|
|
NM_001164508.2(NEB):c.25414C>T (p.Arg8472Cys)
|
rs542706227
|
0.00002
|
|
NM_001164508.2(NEB):c.2940T>C (p.Asn980=)
|
rs1472489170
|
0.00002
|
|
NM_001164508.2(NEB):c.3094C>T (p.Pro1032Ser)
|
rs544334101
|
0.00002
|
|
NM_001164508.2(NEB):c.3203C>T (p.Thr1068Ile)
|
rs769233880
|
0.00002
|
|
NM_001164508.2(NEB):c.3239G>A (p.Arg1080Lys)
|
rs1377050628
|
0.00002
|
|
NM_001164508.2(NEB):c.3245C>T (p.Ala1082Val)
|
rs752809792
|
0.00002
|
|
NM_001164508.2(NEB):c.3370C>T (p.Arg1124Trp)
|
rs758590520
|
0.00002
|
|
NM_001164508.2(NEB):c.3497A>T (p.His1166Leu)
|
rs765273968
|
0.00002
|
|
NM_001164508.2(NEB):c.3634G>A (p.Asp1212Asn)
|
rs779673816
|
0.00002
|
|
NM_001164508.2(NEB):c.3759G>A (p.Thr1253=)
|
rs763075598
|
0.00002
|
|
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser)
|
rs565184120
|
0.00002
|
|
NM_001164508.2(NEB):c.4343G>C (p.Gly1448Ala)
|
rs756000690
|
0.00002
|
|
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=)
|
rs748479655
|
0.00002
|
|
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys)
|
rs183333679
|
0.00002
|
|
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser)
|
rs756692621
|
0.00002
|
|
NM_001164508.2(NEB):c.6145A>G (p.Ile2049Val)
|
rs755853362
|
0.00002
|
|
NM_001164508.2(NEB):c.6225G>T (p.Met2075Ile)
|
rs760968740
|
0.00002
|
|
NM_001164508.2(NEB):c.6392A>T (p.Asn2131Ile)
|
rs781202038
|
0.00002
|
|
NM_001164508.2(NEB):c.674C>T (p.Pro225Leu)
|
rs770322824
|
0.00002
|
|
NM_001164508.2(NEB):c.6893C>T (p.Ala2298Val)
|
rs1280388530
|
0.00002
|
|
NM_001164508.2(NEB):c.7233A>G (p.Leu2411=)
|
rs1023030953
|
0.00002
|
|
NM_001164508.2(NEB):c.734G>T (p.Gly245Val)
|
rs765569689
|
0.00002
|
|
NM_001164508.2(NEB):c.7860C>T (p.Ser2620=)
|
rs753267809
|
0.00002
|
|
NM_001164508.2(NEB):c.8224G>C (p.Glu2742Gln)
|
rs772837483
|
0.00002
|
|
NM_001164508.2(NEB):c.8319G>T (p.Arg2773=)
|
rs746644593
|
0.00002
|
|
NM_001164508.2(NEB):c.8690T>C (p.Met2897Thr)
|
rs747466015
|
0.00002
|
|
NM_001164508.2(NEB):c.992C>G (p.Pro331Arg)
|
rs763822076
|
0.00002
|
|
NM_001164688.2(RD3):c.102G>A (p.Thr34=)
|
rs199511076
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.2028G>A (p.Lys676=)
|
rs779751590
|
0.00002
|
|
NM_001170629.2(CHD8):c.1320G>A (p.Ser440=)
|
rs898418482
|
0.00002
|
|
NM_001170629.2(CHD8):c.181T>C (p.Ser61Pro)
|
rs1064795811
|
0.00002
|
|
NM_001177316.2(SLC34A3):c.449-3C>T
|
rs757092241
|
0.00002
|
|
NM_001194998.2(CEP152):c.60C>T (p.Asp20=)
|
rs759826252
|
0.00002
|
|
NM_001197104.2(KMT2A):c.10901-5A>G
|
rs369909433
|
0.00002
|
|
NM_001197104.2(KMT2A):c.5665-10T>C
|
rs1401608038
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp)
|
rs574768683
|
0.00002
|
|
NM_001205293.3(CACNA1E):c.312C>T (p.Ile104=)
|
rs760287778
|
0.00002
|
|
NM_001220.5(CAMK2B):c.1176+9C>G
|
rs766988307
|
0.00002
|
|
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)
|
rs747338200
|
0.00002
|
|
NM_001243279.3(ACSF3):c.480C>T (p.Val160=)
|
rs375671065
|
0.00002
|
|
NM_001256317.3(TMPRSS3):c.999C>T (p.Pro333=)
|
rs192630206
|
0.00002
|
|
NM_001256545.2(MEGF10):c.2919G>A (p.Val973=)
|
rs770936974
|
0.00002
|
|
NM_001277115.2(DNAH11):c.3790A>G (p.Arg1264Gly)
|
rs749057056
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5501G>A (p.Arg1834His)
|
rs750430725
|
0.00002
|
|
NM_001277115.2(DNAH11):c.643C>T (p.Pro215Ser)
|
rs995773912
|
0.00002
|
|
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp)
|
rs1298830102
|
0.00002
|
|
NM_001278716.2(FBXL4):c.766G>A (p.Gly256Ser)
|
rs765912815
|
0.00002
|
|
NM_001291303.3(FAT4):c.14169G>T (p.Leu4723Phe)
|
rs760377475
|
0.00002
|
|
NM_001291303.3(FAT4):c.4964G>A (p.Ser1655Asn)
|
rs572010193
|
0.00002
|
|
NM_001292063.2(OTOG):c.3526-12G>C
|
rs749205983
|
0.00002
|
|
NM_001297.5(CNGB1):c.1482T>C (p.Ser494=)
|
rs769840807
|
0.00002
|
|
NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr)
|
rs1356745875
|
0.00002
|
|
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met)
|
rs1005844306
|
0.00002
|
|
NM_001330360.2(POLA1):c.568A>G (p.Lys190Glu)
|
rs779545243
|
0.00002
|
|
NM_001349206.2(LPIN1):c.1044C>T (p.Ser348=)
|
rs775088748
|
0.00002
|
|
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=)
|
rs760265551
|
0.00002
|
|
NM_001355436.2(SPTB):c.3311C>G (p.Ala1104Gly)
|
rs374648585
|
0.00002
|
|
NM_001358921.2(COQ2):c.868C>T (p.Leu290=)
|
rs375066516
|
0.00002
|
|
NM_001360.3(DHCR7):c.99-11C>T
|
rs371964662
|
0.00002
|
|
NM_001367624.2(ZNF469):c.3030C>G (p.Pro1010=)
|
rs1245818626
|
0.00002
|
|
NM_001367721.1(CASK):c.1419A>G (p.Pro473=)
|
rs764194945
|
0.00002
|
|
NM_001367721.1(CASK):c.1714C>T (p.Arg572Cys)
|
rs1421702106
|
0.00002
|
|
NM_001369.3(DNAH5):c.100G>A (p.Asp34Asn)
|
rs1215107095
|
0.00002
|
|
NM_001369.3(DNAH5):c.10195G>A (p.Val3399Ile)
|
rs749397968
|
0.00002
|
|
NM_001369.3(DNAH5):c.11130T>C (p.Arg3710=)
|
rs765391783
|
0.00002
|
|
NM_001369.3(DNAH5):c.11438G>A (p.Arg3813Gln)
|
rs143612682
|
0.00002
|
|
NM_001369.3(DNAH5):c.12076G>A (p.Glu4026Lys)
|
rs776854779
|
0.00002
|
|
NM_001369.3(DNAH5):c.12727C>T (p.Arg4243Cys)
|
rs150357258
|
0.00002
|
|
NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=)
|
rs755271975
|
0.00002
|
|
NM_001369.3(DNAH5):c.13276G>A (p.Glu4426Lys)
|
rs777295839
|
0.00002
|
|
NM_001369.3(DNAH5):c.1823C>G (p.Thr608Arg)
|
rs781059966
|
0.00002
|
|
NM_001369.3(DNAH5):c.1892G>A (p.Arg631His)
|
rs370272258
|
0.00002
|
|
NM_001369.3(DNAH5):c.2048G>A (p.Arg683Gln)
|
rs142373364
|
0.00002
|
|
NM_001369.3(DNAH5):c.378A>G (p.Val126=)
|
rs377275027
|
0.00002
|
|
NM_001369.3(DNAH5):c.4319A>C (p.Glu1440Ala)
|
rs147322363
|
0.00002
|
|
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp)
|
rs535366955
|
0.00002
|
|
NM_001369.3(DNAH5):c.4877T>C (p.Met1626Thr)
|
rs753163103
|
0.00002
|
|
NM_001369.3(DNAH5):c.4880C>T (p.Thr1627Met)
|
rs745381842
|
0.00002
|
|
NM_001369.3(DNAH5):c.4936A>C (p.Lys1646Gln)
|
rs775506164
|
0.00002
|
|
NM_001369.3(DNAH5):c.536C>T (p.Thr179Met)
|
rs747116308
|
0.00002
|
|
NM_001369.3(DNAH5):c.5642C>T (p.Thr1881Met)
|
rs190749755
|
0.00002
|
|
NM_001369.3(DNAH5):c.6381C>T (p.Asn2127=)
|
rs767344710
|
0.00002
|
|
NM_001369.3(DNAH5):c.660+10A>G
|
rs750383077
|
0.00002
|
|
NM_001369.3(DNAH5):c.6911G>A (p.Arg2304Gln)
|
rs558294959
|
0.00002
|
|
NM_001369.3(DNAH5):c.8184T>G (p.Asn2728Lys)
|
rs1469012975
|
0.00002
|
|
NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu)
|
rs773643407
|
0.00002
|
|
NM_001369.3(DNAH5):c.841G>A (p.Val281Ile)
|
rs548585661
|
0.00002
|
|
NM_001369.3(DNAH5):c.8948C>T (p.Thr2983Met)
|
rs750809719
|
0.00002
|
|
NM_001369.3(DNAH5):c.9111T>C (p.Ser3037=)
|
rs765029802
|
0.00002
|
|
NM_001369.3(DNAH5):c.9236G>A (p.Arg3079Gln)
|
rs752552477
|
0.00002
|
|
NM_001369.3(DNAH5):c.9444C>T (p.Cys3148=)
|
rs543265562
|
0.00002
|
|
NM_001369268.1(ACAN):c.553C>A (p.Pro185Thr)
|
rs751285545
|
0.00002
|
|
NM_001369369.1(FOXN1):c.147G>A (p.Ser49=)
|
rs148006498
|
0.00002
|
|
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys)
|
rs386833403
|
0.00002
|
|
NM_001370466.1(NOD2):c.2767A>C (p.Met923Leu)
|
rs527892258
|
0.00002
|
|
NM_001370658.1(BTD):c.1425C>A (p.Ile475=)
|
rs780182371
|
0.00002
|
|
NM_001371928.1(AHDC1):c.1675G>A (p.Gly559Ser)
|
rs765994795
|
0.00002
|
|
NM_001372051.1(CASP8):c.843C>A (p.Ile281=)
|
rs199934929
|
0.00002
|
|
NM_001374385.1(ATP8B1):c.3532-8C>G
|
rs1322207888
|
0.00002
|
|
NM_001374385.1(ATP8B1):c.3553T>C (p.Leu1185=)
|
rs751410046
|
0.00002
|
|
NM_001375808.2(LPIN2):c.1347C>T (p.Ser449=)
|
rs773074044
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=)
|
rs763119040
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=)
|
rs35143882
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.11056-10A>G
|
rs751676054
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=)
|
rs149028205
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)
|
rs755543897
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=)
|
rs776544497
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=)
|
rs200885538
|
0.00002
|
|
NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser)
|
rs370669724
|
0.00002
|
|
NM_001377299.1(NDUFS2):c.1324C>T (p.His442Tyr)
|
rs201897431
|
0.00002
|
|
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=)
|
rs1464934308
|
0.00002
|
|
NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=)
|
rs202036843
|
0.00002
|
|
NM_001378454.1(ALMS1):c.11668+17A>G
|
rs201109126
|
0.00002
|
|
NM_001378454.1(ALMS1):c.12363-12G>A
|
rs749504196
|
0.00002
|
|
NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=)
|
rs745503022
|
0.00002
|
|
NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=)
|
rs369656698
|
0.00002
|
|
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=)
|
rs373972884
|
0.00002
|
|
NM_001378454.1(ALMS1):c.7541-6C>T
|
rs1408073039
|
0.00002
|
|
NM_001378454.1(ALMS1):c.765-12A>G
|
rs200209691
|
0.00002
|
|
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=)
|
rs775482774
|
0.00002
|
|
NM_001378609.3(OTOGL):c.3263A>G (p.Asp1088Gly)
|
rs12422945
|
0.00002
|
|
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val)
|
rs774172292
|
0.00002
|
|
NM_001378964.1(CDON):c.2159-14G>A
|
rs752818698
|
0.00002
|
|
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe)
|
rs750009006
|
0.00002
|
|
NM_001384140.1(PCDH15):c.3009+7G>A
|
rs201161336
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.4246G>A (p.Val1416Met)
|
rs376365094
|
0.00002
|
|
NM_001386393.1(PANK2):c.694T>C (p.Leu232=)
|
rs143090515
|
0.00002
|
|
NM_001395413.1(POR):c.1143G>A (p.Pro381=)
|
rs375444057
|
0.00002
|
|
NM_001395413.1(POR):c.1389+10G>A
|
rs782345141
|
0.00002
|
|
NM_001395413.1(POR):c.1926C>T (p.Thr642=)
|
rs557596726
|
0.00002
|
|
NM_001399.5(EDA):c.396+10C>T
|
rs754163471
|
0.00002
|
|
NM_001457.4(FLNB):c.1402C>T (p.Arg468Cys)
|
rs139664696
|
0.00002
|
|
NM_001457.4(FLNB):c.1628T>C (p.Val543Ala)
|
rs773177128
|
0.00002
|
|
NM_001457.4(FLNB):c.1897A>G (p.Met633Val)
|
rs937051879
|
0.00002
|
|
NM_001457.4(FLNB):c.2098A>C (p.Met700Leu)
|
rs762991925
|
0.00002
|
|
NM_001457.4(FLNB):c.2529C>T (p.His843=)
|
rs762942290
|
0.00002
|
|
NM_001457.4(FLNB):c.3325G>A (p.Val1109Ile)
|
rs200947960
|
0.00002
|
|
NM_001457.4(FLNB):c.5051A>G (p.Tyr1684Cys)
|
rs376280025
|
0.00002
|
|
NM_001457.4(FLNB):c.5188G>A (p.Glu1730Lys)
|
rs773991765
|
0.00002
|
|
NM_001457.4(FLNB):c.6108C>T (p.Ser2036=)
|
rs767210448
|
0.00002
|
|
NM_001457.4(FLNB):c.6497C>T (p.Thr2166Met)
|
rs199939739
|
0.00002
|
|
NM_001457.4(FLNB):c.7167C>T (p.Ala2389=)
|
rs781119139
|
0.00002
|
|
NM_001458.5(FLNC):c.2311G>A (p.Gly771Ser)
|
rs1031265089
|
0.00002
|
|
NM_001458.5(FLNC):c.3022C>T (p.Arg1008Cys)
|
rs757969015
|
0.00002
|
|
NM_001458.5(FLNC):c.4073C>G (p.Pro1358Arg)
|
rs769586047
|
0.00002
|
|
NM_001458.5(FLNC):c.4699C>T (p.Arg1567Trp)
|
rs369842920
|
0.00002
|
|
NM_001458.5(FLNC):c.4705G>A (p.Ala1569Thr)
|
rs768737324
|
0.00002
|
|
NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys)
|
rs750686083
|
0.00002
|
|
NM_001458.5(FLNC):c.7310G>A (p.Arg2437Gln)
|
rs201762568
|
0.00002
|
|
NM_001498.4(GCLC):c.12G>A (p.Leu4=)
|
rs201410638
|
0.00002
|
|
NM_001540.5(HSPB1):c.216C>T (p.Ala72=)
|
rs11547168
|
0.00002
|
|
NM_001692.4(ATP6V1B1):c.1089G>A (p.Thr363=)
|
rs782584396
|
0.00002
|
|
NM_001692.4(ATP6V1B1):c.1276G>A (p.Val426Met)
|
rs531239712
|
0.00002
|
|
NM_001696.4(ATP6V1E1):c.367-4C>T
|
rs746489312
|
0.00002
|
|
NM_001698.3(AUH):c.655+7G>A
|
rs748099966
|
0.00002
|
|
NM_001754.5(RUNX1):c.96C>T (p.His32=)
|
rs748758482
|
0.00002
|
|
NM_001844.5(COL2A1):c.1001G>A (p.Arg334Gln)
|
rs765231668
|
0.00002
|
|
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala)
|
rs748511528
|
0.00002
|
|
NM_001844.5(COL2A1):c.1481G>A (p.Arg494His)
|
rs766574999
|
0.00002
|
|
NM_001844.5(COL2A1):c.157C>G (p.Arg53Gly)
|
rs776744207
|
0.00002
|
|
NM_001844.5(COL2A1):c.1743T>C (p.Pro581=)
|
rs755517458
|
0.00002
|
|
NM_001844.5(COL2A1):c.196G>A (p.Asp66Asn)
|
rs976006680
|
0.00002
|
|
NM_001844.5(COL2A1):c.3115A>G (p.Ser1039Gly)
|
rs780375782
|
0.00002
|
|
NM_001844.5(COL2A1):c.3637C>T (p.Pro1213Ser)
|
rs886626700
|
0.00002
|
|
NM_001844.5(COL2A1):c.409C>T (p.Arg137Cys)
|
rs762357071
|
0.00002
|
|
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser)
|
rs537186508
|
0.00002
|
|
NM_001844.5(COL2A1):c.4265G>A (p.Arg1422Gln)
|
rs745349011
|
0.00002
|
|
NM_001844.5(COL2A1):c.4290G>A (p.Thr1430=)
|
rs554488169
|
0.00002
|
|
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=)
|
rs531373470
|
0.00002
|
|
NM_001845.6(COL4A1):c.1897+7C>G
|
rs773791331
|
0.00002
|
|
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu)
|
rs201093313
|
0.00002
|
|
NM_001852.4(COL9A2):c.1857C>G (p.Pro619=)
|
rs771660985
|
0.00002
|
|
NM_001853.4(COL9A3):c.1282G>A (p.Asp428Asn)
|
rs562245450
|
0.00002
|
|
NM_001854.4(COL11A1):c.1051C>A (p.Gln351Lys)
|
rs761451204
|
0.00002
|
|
NM_001854.4(COL11A1):c.1309-7G>A
|
rs748684225
|
0.00002
|
|
NM_001854.4(COL11A1):c.2520A>G (p.Pro840=)
|
rs942911563
|
0.00002
|
|
NM_001854.4(COL11A1):c.4320T>C (p.Pro1440=)
|
rs762511819
|
0.00002
|
|
NM_001875.5(CPS1):c.2611A>T (p.Thr871Ser)
|
rs750006303
|
0.00002
|
|
NM_001875.5(CPS1):c.436A>G (p.Thr146Ala)
|
rs747085519
|
0.00002
|
|
NM_001876.4(CPT1A):c.432T>C (p.Ser144=)
|
rs751979703
|
0.00002
|
|
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr)
|
rs769840338
|
0.00002
|
|
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val)
|
rs886059902
|
0.00002
|
|
NM_001999.4(FBN2):c.1961G>A (p.Arg654His)
|
rs780589159
|
0.00002
|
|
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe)
|
rs760483684
|
0.00002
|
|
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser)
|
rs555682061
|
0.00002
|
|
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp)
|
rs774248421
|
0.00002
|
|
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val)
|
rs150986564
|
0.00002
|
|
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=)
|
rs765676702
|
0.00002
|
|
NM_002185.5(IL7R):c.111C>T (p.Asp37=)
|
rs763937095
|
0.00002
|
|
NM_002185.5(IL7R):c.990G>A (p.Gln330=)
|
rs201093124
|
0.00002
|
|
NM_002225.5(IVD):c.1138+13C>T
|
rs770658726
|
0.00002
|
|
NM_002225.5(IVD):c.357C>T (p.Ser119=)
|
rs776924775
|
0.00002
|
|
NM_002246.3(KCNK3):c.618G>A (p.Val206=)
|
rs536179160
|
0.00002
|
|
NM_002292.4(LAMB2):c.3273T>C (p.Gly1091=)
|
rs369406683
|
0.00002
|
|
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr)
|
rs778577575
|
0.00002
|
|
NM_002303.6(LEPR):c.1018A>G (p.Ile340Val)
|
rs753573139
|
0.00002
|
|
NM_002437.5(MPV17):c.217T>A (p.Leu73Met)
|
rs766487119
|
0.00002
|
|
NM_002439.5(MSH3):c.359-17C>G
|
rs761027175
|
0.00002
|
|
NM_002473.6(MYH9):c.2713C>T (p.Arg905Cys)
|
rs377115843
|
0.00002
|
|
NM_002473.6(MYH9):c.491-7G>A
|
rs200059134
|
0.00002
|
|
NM_002474.3(MYH11):c.1401+10G>A
|
rs375209947
|
0.00002
|
|
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser)
|
rs563865467
|
0.00002
|
|
NM_002474.3(MYH11):c.2010C>T (p.Asn670=)
|
rs774336703
|
0.00002
|
|
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)
|
rs587780773
|
0.00002
|
|
NM_002485.5(NBN):c.1125-3C>T
|
rs587781326
|
0.00002
|
|
NM_002485.5(NBN):c.2070+4G>A
|
rs876660950
|
0.00002
|
|
NM_002485.5(NBN):c.24G>A (p.Ala8=)
|
rs779543740
|
0.00002
|
|
NM_002485.5(NBN):c.254A>G (p.Asn85Ser)
|
rs587780095
|
0.00002
|
|
NM_002529.4(NTRK1):c.1237G>C (p.Glu413Gln)
|
rs199826686
|
0.00002
|
|
NM_002529.4(NTRK1):c.1805+8C>A
|
rs780424308
|
0.00002
|
|
NM_002529.4(NTRK1):c.1917G>A (p.Val639=)
|
rs760171782
|
0.00002
|
|
NM_002529.4(NTRK1):c.2047-8C>T
|
rs769308621
|
0.00002
|
|
NM_002529.4(NTRK1):c.2169C>T (p.Tyr723=)
|
rs140852621
|
0.00002
|
|
NM_002529.4(NTRK1):c.2205+10G>A
|
rs368713268
|
0.00002
|
|
NM_002529.4(NTRK1):c.65T>A (p.Leu22Gln)
|
rs748402400
|
0.00002
|
|
NM_002691.4(POLD1):c.1138-3C>T
|
rs200072694
|
0.00002
|
|
NM_002691.4(POLD1):c.2250+5G>C
|
rs772130395
|
0.00002
|
|
NM_002691.4(POLD1):c.3219-4G>A
|
rs756232002
|
0.00002
|
|
NM_002693.3(POLG):c.1713-4G>A
|
rs201857960
|
0.00002
|
|
NM_002693.3(POLG):c.3273+8G>A
|
rs776468044
|
0.00002
|
|
NM_002778.4(PSAP):c.1197C>T (p.His399=)
|
rs748761213
|
0.00002
|
|
NM_002778.4(PSAP):c.40+12G>A
|
rs886047153
|
0.00002
|
|
NM_003036.4(SKI):c.1400C>T (p.Thr467Met)
|
rs752151031
|
0.00002
|
|
NM_003060.4(SLC22A5):c.183C>G (p.Ala61=)
|
rs1226557478
|
0.00002
|
|
NM_003060.4(SLC22A5):c.522C>T (p.Phe174=)
|
rs145350949
|
0.00002
|
|
NM_003119.4(SPG7):c.619-7C>A
|
rs779835775
|
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_003193.5(TBCE):c.678G>A (p.Ala226=)
|
rs757127216
|
0.00002
|
|
NM_003238.6(TGFB2):c.1087-13T>G
|
rs374394434
|
0.00002
|
|
NM_003283.6(TNNT1):c.73+15T>G
|
rs759885491
|
0.00002
|
|
NM_003331.5(TYK2):c.3201-15C>T
|
rs766488790
|
0.00002
|
|
NM_003331.5(TYK2):c.3555C>T (p.Ser1185=)
|
rs372903125
|
0.00002
|
|
NM_003334.4(UBA1):c.954G>A (p.Thr318=)
|
rs368506746
|
0.00002
|
|
NM_003361.4(UMOD):c.758G>A (p.Gly253Asp)
|
rs760253448
|
0.00002
|
|
NM_003560.4(PLA2G6):c.1348+10G>A
|
rs761202760
|
0.00002
|
|
NM_003705.5(SLC25A12):c.1745-4T>C
|
rs765417421
|
0.00002
|
|
NM_003721.4(RFXANK):c.240C>T (p.Asn80=)
|
rs754519730
|
0.00002
|
|
NM_003722.5(TP63):c.1761G>A (p.Leu587=)
|
rs573105911
|
0.00002
|
|
NM_003742.4(ABCB11):c.2453A>T (p.Tyr818Phe)
|
rs374548469
|
0.00002
|
|
NM_003742.4(ABCB11):c.2799G>T (p.Leu933=)
|
rs1057164807
|
0.00002
|
|
NM_003742.4(ABCB11):c.283G>A (p.Val95Ile)
|
rs201735739
|
0.00002
|
|
NM_003764.4(STX11):c.585C>A (p.Ala195=)
|
rs147525157
|
0.00002
|
|
NM_003896.4(ST3GAL5):c.1059C>T (p.Cys353=)
|
rs149801673
|
0.00002
|
|
NM_003896.4(ST3GAL5):c.852A>G (p.Pro284=)
|
rs534535305
|
0.00002
|
|
NM_003919.3(SGCE):c.139G>A (p.Asp47Asn)
|
rs199787155
|
0.00002
|
|
NM_003977.4(AIP):c.822C>A (p.Ala274=)
|
rs145142121
|
0.00002
|
|
NM_003982.4(SLC7A7):c.342C>T (p.Phe114=)
|
rs777682875
|
0.00002
|
|
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln)
|
rs1057522606
|
0.00002
|
|
NM_004035.7(ACOX1):c.510G>A (p.Val170=)
|
rs752375436
|
0.00002
|
|
NM_004100.5(EYA4):c.1107+10C>G
|
rs752586864
|
0.00002
|
|
NM_004181.5(UCHL1):c.412-4G>A
|
rs765745344
|
0.00002
|
|
NM_004239.4(TRIP11):c.477C>T (p.Asp159=)
|
rs147932068
|
0.00002
|
|
NM_004239.4(TRIP11):c.657+9A>C
|
rs182914589
|
0.00002
|
|
NM_004281.4(BAG3):c.386C>T (p.Ala129Val)
|
rs876657747
|
0.00002
|
|
NM_004304.5(ALK):c.2979C>T (p.Asp993=)
|
rs761999849
|
0.00002
|
|
NM_004304.5(ALK):c.3939-9C>T
|
rs749848775
|
0.00002
|
|
NM_004320.6(ATP2A1):c.1314C>T (p.Gly438=)
|
rs757274362
|
0.00002
|
|
NM_004320.6(ATP2A1):c.2082C>T (p.Tyr694=)
|
rs749931257
|
0.00002
|
|
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln)
|
rs373364873
|
0.00002
|
|
NM_004360.5(CDH1):c.1119G>A (p.Pro373=)
|
rs758258272
|
0.00002
|
|
NM_004360.5(CDH1):c.1488C>T (p.Ser496=)
|
rs751346548
|
0.00002
|
|
NM_004360.5(CDH1):c.1684A>G (p.Thr562Ala)
|
rs587782061
|
0.00002
|
|
NM_004360.5(CDH1):c.2079C>T (p.Gly693=)
|
rs771993728
|
0.00002
|
|
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val)
|
rs121964871
|
0.00002
|
|
NM_004360.5(CDH1):c.2254G>A (p.Val752Ile)
|
rs587781351
|
0.00002
|
|
NM_004360.5(CDH1):c.2296-14T>C
|
rs755950355
|
0.00002
|
|
NM_004360.5(CDH1):c.2399G>A (p.Arg800His)
|
rs370345996
|
0.00002
|
|
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln)
|
rs587782647
|
0.00002
|
|
NM_004360.5(CDH1):c.344C>T (p.Thr115Met)
|
rs370973869
|
0.00002
|
|
NM_004360.5(CDH1):c.388-14T>G
|
rs769151434
|
0.00002
|
|
NM_004360.5(CDH1):c.388-8C>T
|
rs774601444
|
0.00002
|
|
NM_004360.5(CDH1):c.531+3A>G
|
rs766563354
|
0.00002
|
|
NM_004360.5(CDH1):c.957T>A (p.Ile319=)
|
rs549252135
|
0.00002
|
|
NM_004370.6(COL12A1):c.19C>G (p.Pro7Ala)
|
rs755046298
|
0.00002
|
|
NM_004370.6(COL12A1):c.2473C>G (p.Pro825Ala)
|
rs770324764
|
0.00002
|
|
NM_004370.6(COL12A1):c.2633A>G (p.Gln878Arg)
|
rs761818931
|
0.00002
|
|
NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr)
|
rs373583477
|
0.00002
|
|
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg)
|
rs752812483
|
0.00002
|
|
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His)
|
rs191757914
|
0.00002
|
|
NM_004370.6(COL12A1):c.4280G>A (p.Arg1427His)
|
rs1033545876
|
0.00002
|
|
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser)
|
rs1453508139
|
0.00002
|
|
NM_004370.6(COL12A1):c.4402G>A (p.Gly1468Arg)
|
rs771110521
|
0.00002
|
|
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile)
|
rs1244436929
|
0.00002
|
|
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser)
|
rs758186176
|
0.00002
|
|
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=)
|
rs370689343
|
0.00002
|
|
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr)
|
rs757208743
|
0.00002
|
|
NM_004415.4(DSP):c.104G>C (p.Gly35Ala)
|
rs202194206
|
0.00002
|
|
NM_004415.4(DSP):c.1149A>G (p.Glu383=)
|
rs572980966
|
0.00002
|
|
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu)
|
rs761051181
|
0.00002
|
|
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)
|
rs372467697
|
0.00002
|
|
NM_004415.4(DSP):c.2329A>G (p.Ile777Val)
|
rs755860619
|
0.00002
|
|
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)
|
rs749051278
|
0.00002
|
|
NM_004415.4(DSP):c.3147G>A (p.Ser1049=)
|
rs756341143
|
0.00002
|
|
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)
|
rs372440854
|
0.00002
|
|
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val)
|
rs376555665
|
0.00002
|
|
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser)
|
rs771721410
|
0.00002
|
|
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala)
|
rs760433367
|
0.00002
|
|
NM_004415.4(DSP):c.449G>A (p.Arg150Gln)
|
rs587782940
|
0.00002
|
|
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro)
|
rs749679496
|
0.00002
|
|
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)
|
rs34738426
|
0.00002
|
|
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)
|
rs372393122
|
0.00002
|
|
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys)
|
rs142078450
|
0.00002
|
|
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)
|
rs147484870
|
0.00002
|
|
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)
|
rs869025397
|
0.00002
|
|
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr)
|
rs727504570
|
0.00002
|
|
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly)
|
rs397516972
|
0.00002
|
|
NM_004484.4(GPC3):c.733C>A (p.His245Asn)
|
rs199778216
|
0.00002
|
|
NM_004525.3(LRP2):c.3573A>G (p.Gln1191=)
|
rs750430784
|
0.00002
|
|
NM_004530.6(MMP2):c.105C>T (p.Ile35=)
|
rs764055331
|
0.00002
|
|
NM_004531.5(MOCS2):c.74A>G (p.Glu25Gly)
|
rs749876758
|
0.00002
|
|
NM_004560.4(ROR2):c.1236C>T (p.Ile412=)
|
rs752218712
|
0.00002
|
|
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr)
|
rs766157497
|
0.00002
|
|
NM_004612.4(TGFBR1):c.503G>A (p.Arg168His)
|
rs777965779
|
0.00002
|
|
NM_004655.4(AXIN2):c.897C>T (p.Asp299=)
|
rs748143308
|
0.00002
|
|
NM_004656.4(BAP1):c.1251-11G>A
|
rs981419588
|
0.00002
|
|
NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln)
|
rs531148057
|
0.00002
|
|
NM_004817.4(TJP2):c.2775G>A (p.Thr925=)
|
rs374453976
|
0.00002
|
|
NM_004817.4(TJP2):c.2832G>A (p.Pro944=)
|
rs191634088
|
0.00002
|
|
NM_004820.5(CYP7B1):c.129C>T (p.Pro43=)
|
rs1471365409
|
0.00002
|
|
NM_004870.4(MPDU1):c.121C>G (p.Leu41Val)
|
rs199498675
|
0.00002
|
|
NM_004958.4(MTOR):c.4612C>T (p.Arg1538Trp)
|
rs202187935
|
0.00002
|
|
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln)
|
rs753575587
|
0.00002
|
|
NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met)
|
rs774586838
|
0.00002
|
|
NM_004984.4(KIF5A):c.1222C>T (p.Arg408Cys)
|
rs767181570
|
0.00002
|
|
NM_004984.4(KIF5A):c.1870C>T (p.Arg624Trp)
|
rs748248329
|
0.00002
|
|
NM_004984.4(KIF5A):c.2134C>T (p.Arg712Trp)
|
rs779614400
|
0.00002
|
|
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys)
|
rs387907286
|
0.00002
|
|
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr)
|
rs746095110
|
0.00002
|
|
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=)
|
rs755457098
|
0.00002
|
|
NM_005006.7(NDUFS1):c.502T>C (p.Leu168=)
|
rs759656684
|
0.00002
|
|
NM_005045.4(RELN):c.10025C>T (p.Thr3342Met)
|
rs201703640
|
0.00002
|
|
NM_005045.4(RELN):c.1936C>T (p.Arg646Trp)
|
rs115831287
|
0.00002
|
|
NM_005045.4(RELN):c.3287A>G (p.Gln1096Arg)
|
rs780325204
|
0.00002
|
|
NM_005045.4(RELN):c.3952C>G (p.Pro1318Ala)
|
rs140090640
|
0.00002
|
|
NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr)
|
rs371614773
|
0.00002
|
|
NM_005045.4(RELN):c.7916G>A (p.Arg2639His)
|
rs369735904
|
0.00002
|
|
NM_005045.4(RELN):c.8181T>G (p.Asp2727Glu)
|
rs778861276
|
0.00002
|
|
NM_005076.5(CNTN2):c.2111G>A (p.Arg704Gln)
|
rs139732381
|
0.00002
|
|
NM_005198.5(CHKB):c.745T>C (p.Leu249=)
|
rs760310819
|
0.00002
|
|
NM_005271.5(GLUD1):c.330G>A (p.Lys110=)
|
rs199752396
|
0.00002
|
|
NM_005422.4(TECTA):c.487-7C>G
|
rs368627411
|
0.00002
|
|
NM_005502.4(ABCA1):c.4050+8G>A
|
rs371581830
|
0.00002
|
|
NM_005518.4(HMGCS2):c.1236T>C (p.Tyr412=)
|
rs773364048
|
0.00002
|
|
NM_005529.7(HSPG2):c.6228G>A (p.Gly2076=)
|
rs769398456
|
0.00002
|
|
NM_005535.3(IL12RB1):c.1173G>A (p.Pro391=)
|
rs772239442
|
0.00002
|
|
NM_005535.3(IL12RB1):c.1746C>T (p.Pro582=)
|
rs759839534
|
0.00002
|
|
NM_005535.3(IL12RB1):c.1818C>T (p.Asp606=)
|
rs886054300
|
0.00002
|
|
NM_005535.3(IL12RB1):c.561A>T (p.Gly187=)
|
rs200542111
|
0.00002
|
|
NM_005566.4(LDHA):c.249T>C (p.Tyr83=)
|
rs199653952
|
0.00002
|
|
NM_005591.4(MRE11):c.1233G>A (p.Glu411=)
|
rs748756180
|
0.00002
|
|
NM_005591.4(MRE11):c.1404T>C (p.Asp468=)
|
rs368144567
|
0.00002
|
|
NM_005591.4(MRE11):c.1758G>A (p.Ser586=)
|
rs766372720
|
0.00002
|
|
NM_005592.4(MUSK):c.481C>T (p.Leu161Phe)
|
rs1311636142
|
0.00002
|
|
NM_005609.4(PYGM):c.1239+8C>T
|
rs886048461
|
0.00002
|
|
NM_005609.4(PYGM):c.1881C>T (p.Ile627=)
|
rs369361532
|
0.00002
|
|
NM_005609.4(PYGM):c.346-9C>T
|
rs368998655
|
0.00002
|
|
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg)
|
rs1233444890
|
0.00002
|
|
NM_005660.3(SLC35A2):c.485G>A (p.Arg162His)
|
rs782305321
|
0.00002
|
|
NM_005677.4(COLQ):c.942G>A (p.Pro314=)
|
rs771944316
|
0.00002
|
|
NM_005732.4(RAD50):c.282A>G (p.Ile94Met)
|
rs786202847
|
0.00002
|
|
NM_005787.6(ALG3):c.606-10C>T
|
rs372141050
|
0.00002
|
|
NM_005857.5(ZMPSTE24):c.750G>A (p.Thr250=)
|
rs750229142
|
0.00002
|
|
NM_005902.4(SMAD3):c.665A>G (p.Gln222Arg)
|
rs755924969
|
0.00002
|
|
NM_005902.4(SMAD3):c.730G>A (p.Val244Ile)
|
rs773543026
|
0.00002
|
|
NM_005908.4(MANBA):c.1317+14C>A
|
rs200935345
|
0.00002
|
|
NM_006005.3(WFS1):c.1290G>A (p.Ser430=)
|
rs752100338
|
0.00002
|
|
NM_006005.3(WFS1):c.2157C>T (p.Ala719=)
|
rs766900991
|
0.00002
|
|
NM_006005.3(WFS1):c.2453G>A (p.Arg818His)
|
rs575851859
|
0.00002
|
|
NM_006005.3(WFS1):c.345C>T (p.Gly115=)
|
rs200385504
|
0.00002
|
|
NM_006019.4(TCIRG1):c.1710G>A (p.Thr570=)
|
rs199696448
|
0.00002
|
|
NM_006031.6(PCNT):c.4929G>C (p.Val1643=)
|
rs569351854
|
0.00002
|
|
NM_006031.6(PCNT):c.7632G>A (p.Thr2544=)
|
rs541260181
|
0.00002
|
|
NM_006086.4(TUBB3):c.813C>T (p.Ala271=)
|
rs776465410
|
0.00002
|
|
NM_006087.4(TUBB4A):c.666C>T (p.Tyr222=)
|
rs146906606
|
0.00002
|
|
NM_006096.4(NDRG1):c.141G>A (p.Thr47=)
|
rs750933446
|
0.00002
|
|
NM_006206.6(PDGFRA):c.2811G>A (p.Pro937=)
|
rs190260215
|
0.00002
|
|
NM_006231.4(POLE):c.2792T>C (p.Phe931Ser)
|
rs376546593
|
0.00002
|
|
NM_006231.4(POLE):c.3913G>A (p.Gly1305Arg)
|
rs563990655
|
0.00002
|
|
NM_006231.4(POLE):c.4006-8C>A
|
rs745486661
|
0.00002
|
|
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met)
|
rs368364666
|
0.00002
|
|
NM_006254.4(PRKCD):c.889-9C>T
|
rs782612523
|
0.00002
|
|
NM_006371.5(CRTAP):c.1068+11T>C
|
rs761750861
|
0.00002
|
|
NM_006371.5(CRTAP):c.282C>T (p.Pro94=)
|
rs540998437
|
0.00002
|
|
NM_006420.3(ARFGEF2):c.3843C>T (p.Ala1281=)
|
rs748858379
|
0.00002
|
|
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met)
|
rs74323945
|
0.00002
|
|
NM_006516.4(SLC2A1):c.903G>A (p.Ala301=)
|
rs776461617
|
0.00002
|
|
NM_006612.6(KIF1C):c.499C>T (p.Arg167Trp)
|
rs185479618
|
0.00002
|
|
NM_006623.4(PHGDH):c.1365A>G (p.Pro455=)
|
rs1264262485
|
0.00002
|
|
NM_006623.4(PHGDH):c.804G>A (p.Arg268=)
|
rs587719252
|
0.00002
|
|
NM_006767.4(LZTR1):c.2265G>T (p.Arg755=)
|
rs370009707
|
0.00002
|
|
NM_006767.4(LZTR1):c.2326-6T>C
|
rs199965510
|
0.00002
|
|
NM_006767.4(LZTR1):c.264-9G>T
|
rs377233316
|
0.00002
|
|
NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp)
|
rs748333558
|
0.00002
|
|
NM_006772.3(SYNGAP1):c.432G>A (p.Thr144=)
|
rs765193793
|
0.00002
|
|
NM_006796.3(AFG3L2):c.841A>G (p.Thr281Ala)
|
rs200759046
|
0.00002
|
|
NM_006892.4(DNMT3B):c.516C>T (p.Asp172=)
|
rs202113400
|
0.00002
|
|
NM_006892.4(DNMT3B):c.810C>T (p.Ser270=)
|
rs140518698
|
0.00002
|
|
NM_006899.5(IDH3B):c.1011-9T>C
|
rs746209011
|
0.00002
|
|
NM_006904.7(PRKDC):c.1713C>T (p.Ser571=)
|
rs373088662
|
0.00002
|
|
NM_006914.4(RORB):c.1225-4G>A
|
rs774246940
|
0.00002
|
|
NM_006922.4(SCN3A):c.1773T>C (p.Asn591=)
|
rs76144052
|
0.00002
|
|
NM_006922.4(SCN3A):c.2019+8T>C
|
rs1159326316
|
0.00002
|
|
NM_006922.4(SCN3A):c.3084A>G (p.Lys1028=)
|
rs767052591
|
0.00002
|
|
NM_006922.4(SCN3A):c.4117T>C (p.Phe1373Leu)
|
rs977221211
|
0.00002
|
|
NM_006939.4(SOS2):c.2350C>T (p.Arg784Cys)
|
rs760520078
|
0.00002
|
|
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser)
|
rs139401491
|
0.00002
|
|
NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu)
|
rs752525400
|
0.00002
|
|
NM_006941.4(SOX10):c.396T>C (p.Ala132=)
|
rs773304320
|
0.00002
|
|
NM_006946.4(SPTBN2):c.5137C>T (p.Arg1713Cys)
|
rs754809056
|
0.00002
|
|
NM_006946.4(SPTBN2):c.5399C>T (p.Ala1800Val)
|
rs367960697
|
0.00002
|
|
NM_006946.4(SPTBN2):c.5404G>A (p.Glu1802Lys)
|
rs149317715
|
0.00002
|
|
NM_006946.4(SPTBN2):c.6063T>G (p.Asp2021Glu)
|
rs748137168
|
0.00002
|
|
NM_006946.4(SPTBN2):c.6535C>T (p.Arg2179Trp)
|
rs764921928
|
0.00002
|
|
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln)
|
rs759206588
|
0.00002
|
|
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp)
|
rs746195427
|
0.00002
|
|
NM_007194.4(CHEK2):c.1462-7C>G
|
rs730881707
|
0.00002
|
|
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)
|
rs575910805
|
0.00002
|
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
|
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn)
|
rs563130304
|
0.00002
|
|
NM_007215.4(POLG2):c.796-16A>C
|
rs1555668382
|
0.00002
|
|
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)
|
rs397507239
|
0.00002
|
|
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln)
|
rs80357264
|
0.00002
|
|
NM_007327.4(GRIN1):c.794-11T>A
|
rs1347697507
|
0.00002
|
|
NM_007375.4(TARDBP):c.963C>T (p.Ala321=)
|
rs547979470
|
0.00002
|
|
NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys)
|
rs140992439
|
0.00002
|
|
NM_012418.4(FSCN2):c.54C>T (p.Asn18=)
|
rs782414995
|
0.00002
|
|
NM_012469.4(PRPF6):c.171G>C (p.Gly57=)
|
rs749669162
|
0.00002
|
|
NM_013247.5(HTRA2):c.873T>C (p.Asn291=)
|
rs775948550
|
0.00002
|
|
NM_014000.3(VCL):c.1404G>A (p.Thr468=)
|
rs772104870
|
0.00002
|
|
NM_014000.3(VCL):c.808T>C (p.Leu270=)
|
rs727505339
|
0.00002
|
|
NM_014140.4(SMARCAL1):c.600G>A (p.Ser200=)
|
rs530505647
|
0.00002
|
|
NM_014141.6(CNTNAP2):c.1248G>A (p.Ala416=)
|
rs779901891
|
0.00002
|
|
NM_014141.6(CNTNAP2):c.2255+12C>T
|
rs749270618
|
0.00002
|
|
NM_014141.6(CNTNAP2):c.2340A>G (p.Ser780=)
|
rs778124698
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.2172G>C (p.Val724=)
|
rs150587776
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.3423G>A (p.Glu1141=)
|
rs886060490
|
0.00002
|
|
NM_014249.4(NR2E3):c.572-13C>T
|
rs376114936
|
0.00002
|
|
NM_014270.5(SLC7A9):c.201C>T (p.Ile67=)
|
rs371635071
|
0.00002
|
|
NM_014290.3(TDRD7):c.1032A>G (p.Lys344=)
|
rs111320552
|
0.00002
|
|
NM_014319.5(LEMD3):c.636G>A (p.Gly212=)
|
rs771253349
|
0.00002
|
|
NM_014336.5(AIPL1):c.414C>T (p.Asp138=)
|
rs565896898
|
0.00002
|
|
NM_014339.7(IL17RA):c.1167C>G (p.Pro389=)
|
rs139412425
|
0.00002
|
|
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys)
|
rs747013127
|
0.00002
|
|
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)
|
rs376188585
|
0.00002
|
|
NM_014363.6(SACS):c.11776G>A (p.Asp3926Asn)
|
rs756252903
|
0.00002
|
|
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe)
|
rs760556327
|
0.00002
|
|
NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg)
|
rs148824690
|
0.00002
|
|
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)
|
rs772866081
|
0.00002
|
|
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu)
|
rs747566710
|
0.00002
|
|
NM_014363.6(SACS):c.6240T>C (p.Val2080=)
|
rs550680855
|
0.00002
|
|
NM_014363.6(SACS):c.7466C>A (p.Pro2489His)
|
rs766553685
|
0.00002
|
|
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys)
|
rs759112797
|
0.00002
|
|
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn)
|
rs754144089
|
0.00002
|
|
NM_014384.3(ACAD8):c.491-6C>T
|
rs772337149
|
0.00002
|
|
NM_014585.6(SLC40A1):c.272-14C>T
|
rs771203234
|
0.00002
|
|
NM_014639.4(SKIC3):c.3637G>A (p.Gly1213Arg)
|
rs763389035
|
0.00002
|
|
NM_014714.4(IFT140):c.1155+15G>A
|
rs764275810
|
0.00002
|
|
NM_014714.4(IFT140):c.1944C>T (p.Pro648=)
|
rs763449097
|
0.00002
|
|
NM_014714.4(IFT140):c.3390C>T (p.Ser1130=)
|
rs765923171
|
0.00002
|
|
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His)
|
rs147292597
|
0.00002
|
|
NM_014727.3(KMT2B):c.5425G>A (p.Ala1809Thr)
|
rs377420237
|
0.00002
|
|
NM_014727.3(KMT2B):c.5711C>T (p.Pro1904Leu)
|
rs777489488
|
0.00002
|
|
NM_014780.5(CUL7):c.3861C>T (p.Ala1287=)
|
rs745678508
|
0.00002
|
|
NM_014795.4(ZEB2):c.2352T>C (p.Ser784=)
|
rs201990887
|
0.00002
|
|
NM_014844.5(TECPR2):c.1788A>G (p.Gly596=)
|
rs1330988861
|
0.00002
|
|
NM_014855.3(AP5Z1):c.702C>T (p.Asp234=)
|
rs370728528
|
0.00002
|
|
NM_014855.3(AP5Z1):c.994C>T (p.Leu332=)
|
rs1045333933
|
0.00002
|
|
NM_014915.3(ANKRD26):c.501G>T (p.Leu167Phe)
|
rs183398279
|
0.00002
|
|
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)
|
rs773193617
|
0.00002
|
|
NM_015192.4(PLCB1):c.3477C>T (p.Leu1159=)
|
rs774970817
|
0.00002
|
|
NM_015294.6(TRIM37):c.2280G>A (p.Ser760=)
|
rs767616734
|
0.00002
|
|
NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser)
|
rs770738115
|
0.00002
|
|
NM_015459.5(ATL3):c.1500C>T (p.Gly500=)
|
rs202227458
|
0.00002
|
|
NM_015915.5(ATL1):c.756C>T (p.Asn252=)
|
rs771031586
|
0.00002
|
|
NM_016042.4(EXOSC3):c.324+15C>T
|
rs775818894
|
0.00002
|
|
NM_016123.4(IRAK4):c.1191A>G (p.Leu397=)
|
rs773095217
|
0.00002
|
|
NM_016219.5(MAN1B1):c.1255-13C>T
|
rs765403325
|
0.00002
|
|
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=)
|
rs564784943
|
0.00002
|
|
NM_016219.5(MAN1B1):c.975C>T (p.Asp325=)
|
rs202157161
|
0.00002
|
|
NM_016239.4(MYO15A):c.2017G>A (p.Gly673Arg)
|
rs1462012083
|
0.00002
|
|
NM_016239.4(MYO15A):c.4483-6G>A
|
rs771397877
|
0.00002
|
|
NM_016239.4(MYO15A):c.9023C>T (p.Pro3008Leu)
|
rs765934820
|
0.00002
|
|
NM_016341.4(PLCE1):c.599C>T (p.Thr200Ile)
|
rs777436865
|
0.00002
|
|
NM_017534.6(MYH2):c.5115A>G (p.Arg1705=)
|
rs1042270
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile)
|
rs761629787
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val)
|
rs374434131
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6749C>T (p.Ala2250Val)
|
rs777809068
|
0.00002
|
|
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser)
|
rs371333249
|
0.00002
|
|
NM_017636.4(TRPM4):c.3377C>G (p.Ser1126Trp)
|
rs567938424
|
0.00002
|
|
NM_017654.4(SAMD9):c.1191A>G (p.Leu397=)
|
rs1791604504
|
0.00002
|
|
NM_017654.4(SAMD9):c.521G>A (p.Arg174His)
|
rs779289964
|
0.00002
|
|
NM_017721.5(CC2D1A):c.822C>T (p.Ala274=)
|
rs1179685623
|
0.00002
|
|
NM_017755.6(NSUN2):c.174G>A (p.Val58=)
|
rs745966593
|
0.00002
|
|
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=)
|
rs587783449
|
0.00002
|
|
NM_017866.6(TMEM70):c.210+11C>G
|
rs928358741
|
0.00002
|
|
NM_018006.5(TRMU):c.18C>T (p.His6=)
|
rs527315924
|
0.00002
|
|
NM_018006.5(TRMU):c.83-4G>A
|
rs369925943
|
0.00002
|
|
NM_018129.4(PNPO):c.16C>A (p.Arg6=)
|
rs765997859
|
0.00002
|
|
NM_018136.5(ASPM):c.2103G>A (p.Gln701=)
|
rs370972881
|
0.00002
|
|
NM_018136.5(ASPM):c.4209T>C (p.His1403=)
|
rs776523167
|
0.00002
|
|
NM_018206.6(VPS35):c.1809A>T (p.Ala603=)
|
rs142063738
|
0.00002
|
|
NM_018206.6(VPS35):c.648G>A (p.Leu216=)
|
rs763697798
|
0.00002
|
|
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=)
|
rs757392138
|
0.00002
|
|
NM_018389.5(SLC35C1):c.51C>T (p.Thr17=)
|
rs768517924
|
0.00002
|
|
NM_018668.5(VPS33B):c.198A>G (p.Leu66=)
|
rs1416595652
|
0.00002
|
|
NM_018714.3(COG1):c.1890G>A (p.Gln630=)
|
rs146046236
|
0.00002
|
|
NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile)
|
rs201970174
|
0.00002
|
|
NM_018896.5(CACNA1G):c.1588C>T (p.Arg530Cys)
|
rs776897967
|
0.00002
|
|
NM_018979.4(WNK1):c.5325C>T (p.Ser1775=)
|
rs373370309
|
0.00002
|
|
NM_019098.5(CNGB3):c.2103+8G>A
|
rs775059176
|
0.00002
|
|
NM_019109.5(ALG1):c.208+14_208+17dup
|
rs746780708
|
0.00002
|
|
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=)
|
rs377483407
|
0.00002
|
|
NM_020166.5(MCCC1):c.144C>T (p.Asn48=)
|
rs77681010
|
0.00002
|
|
NM_020184.4(CNNM4):c.927T>C (p.Phe309=)
|
rs373657140
|
0.00002
|
|
NM_020247.5(COQ8A):c.853+10C>T
|
rs367945973
|
0.00002
|
|
NM_020376.4(PNPLA2):c.1090C>T (p.Arg364Trp)
|
rs577421006
|
0.00002
|
|
NM_020376.4(PNPLA2):c.36C>T (p.Phe12=)
|
rs750233571
|
0.00002
|
|
NM_020461.4(TUBGCP6):c.5169-5C>T
|
rs777828441
|
0.00002
|
|
NM_020533.3(MCOLN1):c.1074C>T (p.Leu358=)
|
rs535003448
|
0.00002
|
|
NM_020533.3(MCOLN1):c.1237-12G>A
|
rs763017059
|
0.00002
|
|
NM_020533.3(MCOLN1):c.815C>G (p.Pro272Arg)
|
rs183077397
|
0.00002
|
|
NM_020661.4(AICDA):c.376C>T (p.Leu126=)
|
rs999930122
|
0.00002
|
|
NM_020778.5(ALPK3):c.186C>T (p.Ser62=)
|
rs116058119
|
0.00002
|
|
NM_020812.4(DOCK6):c.4350G>C (p.Leu1450=)
|
rs763073235
|
0.00002
|
|
NM_020821.3(VPS13C):c.3052-5T>G
|
rs372141774
|
0.00002
|
|
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp)
|
rs532620254
|
0.00002
|
|
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys)
|
rs776232246
|
0.00002
|
|
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys)
|
rs146070496
|
0.00002
|
|
NM_020928.2(ZSWIM6):c.2108G>A (p.Arg703His)
|
rs995265434
|
0.00002
|
|
NM_020964.3(EPG5):c.1104C>T (p.Phe368=)
|
rs562098384
|
0.00002
|
|
NM_020975.6(RET):c.3200C>T (p.Pro1067Leu)
|
rs760625882
|
0.00002
|
|
NM_021098.3(CACNA1H):c.1421G>A (p.Arg474His)
|
rs769636919
|
0.00002
|
|
NM_021098.3(CACNA1H):c.563T>C (p.Leu188Ser)
|
rs767275498
|
0.00002
|
|
NM_021625.5(TRPV4):c.651G>A (p.Ala217=)
|
rs371280831
|
0.00002
|
|
NM_021830.5(TWNK):c.1021C>T (p.Arg341Cys)
|
rs566579080
|
0.00002
|
|
NM_022041.4(GAN):c.1518C>T (p.Asn506=)
|
rs886052333
|
0.00002
|
|
NM_022051.3(EGLN1):c.522C>T (p.Ser174=)
|
rs767045832
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1900C>G (p.Leu634Val)
|
rs543531903
|
0.00002
|
|
NM_022124.6(CDH23):c.1062C>T (p.Ser354=)
|
rs775091135
|
0.00002
|
|
NM_022124.6(CDH23):c.1317C>T (p.Asp439=)
|
rs748828988
|
0.00002
|
|
NM_022124.6(CDH23):c.321C>G (p.Val107=)
|
rs761122371
|
0.00002
|
|
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)
|
rs397517334
|
0.00002
|
|
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile)
|
rs765060493
|
0.00002
|
|
NM_022356.4(P3H1):c.1944C>T (p.Ala648=)
|
rs760909376
|
0.00002
|
|
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile)
|
rs777411661
|
0.00002
|
|
NM_022436.3(ABCG5):c.804C>T (p.Phe268=)
|
rs554183818
|
0.00002
|
|
NM_022437.3(ABCG8):c.1596C>T (p.Phe532=)
|
rs374820261
|
0.00002
|
|
NM_022437.3(ABCG8):c.165+10C>T
|
rs574722652
|
0.00002
|
|
NM_022437.3(ABCG8):c.695-7T>C
|
rs374648568
|
0.00002
|
|
NM_022455.5(NSD1):c.241A>G (p.Met81Val)
|
rs763781326
|
0.00002
|
|
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro)
|
rs776592297
|
0.00002
|
|
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=)
|
rs147033795
|
0.00002
|
|
NM_022489.4(INF2):c.1208A>G (p.Glu403Gly)
|
rs1356183663
|
0.00002
|
|
NM_022489.4(INF2):c.1811G>A (p.Arg604Gln)
|
rs752971046
|
0.00002
|
|
NM_022489.4(INF2):c.1979G>A (p.Arg660Gln)
|
rs756754311
|
0.00002
|
|
NM_022489.4(INF2):c.2572G>A (p.Val858Met)
|
rs201292830
|
0.00002
|
|
NM_022489.4(INF2):c.2891C>G (p.Pro964Arg)
|
rs748286029
|
0.00002
|
|
NM_022489.4(INF2):c.3080C>T (p.Thr1027Met)
|
rs760488958
|
0.00002
|
|
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln)
|
rs775926673
|
0.00002
|
|
NM_024105.4(ALG12):c.163-4G>A
|
rs776043296
|
0.00002
|
|
NM_024105.4(ALG12):c.57C>T (p.Ala19=)
|
rs763942380
|
0.00002
|
|
NM_024422.6(DSC2):c.1401G>A (p.Glu467=)
|
rs977781359
|
0.00002
|
|
NM_024513.4(FYCO1):c.3825G>A (p.Pro1275=)
|
rs748985200
|
0.00002
|
|
NM_024570.4(RNASEH2B):c.360C>T (p.Asn120=)
|
rs759273327
|
0.00002
|
|
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln)
|
rs201035780
|
0.00002
|
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
0.00002
|
|
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)
|
rs763598472
|
0.00002
|
|
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)
|
rs587781818
|
0.00002
|
|
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)
|
rs141749524
|
0.00002
|
|
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)
|
rs201042302
|
0.00002
|
|
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro)
|
rs515726116
|
0.00002
|
|
NM_024675.4(PALB2):c.995T>A (p.Leu332His)
|
rs377149139
|
0.00002
|
|
NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu)
|
rs776138424
|
0.00002
|
|
NM_024753.5(TTC21B):c.2972G>A (p.Arg991His)
|
rs141708554
|
0.00002
|
|
NM_024757.5(EHMT1):c.183C>T (p.Ser61=)
|
rs774448433
|
0.00002
|
|
NM_024757.5(EHMT1):c.463C>G (p.Leu155Val)
|
rs1003872402
|
0.00002
|
|
NM_024757.5(EHMT1):c.713A>G (p.Asn238Ser)
|
rs1004363452
|
0.00002
|
|
NM_024818.6(UBA5):c.162-7T>C
|
rs769919837
|
0.00002
|
|
NM_024884.3(L2HGDH):c.627A>G (p.Ala209=)
|
rs564306903
|
0.00002
|
|
NM_025000.4(DCAF17):c.230+15A>G
|
rs778241115
|
0.00002
|
|
NM_025137.4(SPG11):c.1182G>A (p.Gly394=)
|
rs199968487
|
0.00002
|
|
NM_025137.4(SPG11):c.3146-6T>G
|
rs777849932
|
0.00002
|
|
NM_025137.4(SPG11):c.5040G>T (p.Leu1680=)
|
rs748057725
|
0.00002
|
|
NM_025137.4(SPG11):c.5407C>T (p.Leu1803=)
|
rs200102584
|
0.00002
|
|
NM_025193.4(HSD3B7):c.431+7_431+8insA
|
rs1343784849
|
0.00002
|
|
NM_030665.4(RAI1):c.2545G>A (p.Asp849Asn)
|
rs866732668
|
0.00002
|
|
NM_030665.4(RAI1):c.2700C>T (p.Thr900=)
|
rs370400740
|
0.00002
|
|
NM_030665.4(RAI1):c.4625G>A (p.Arg1542Gln)
|
rs184604492
|
0.00002
|
|
NM_031407.7(HUWE1):c.1188C>T (p.Tyr396=)
|
rs782115290
|
0.00002
|
|
NM_031407.7(HUWE1):c.1243-8C>T
|
rs781931508
|
0.00002
|
|
NM_031407.7(HUWE1):c.6073G>A (p.Ala2025Thr)
|
rs782688724
|
0.00002
|
|
NM_031407.7(HUWE1):c.6149G>A (p.Arg2050Gln)
|
rs782428636
|
0.00002
|
|
NM_031433.4(MFRP):c.303C>T (p.Ser101=)
|
rs530322096
|
0.00002
|
|
NM_031844.3(HNRNPU):c.1395A>G (p.Pro465=)
|
rs761416400
|
0.00002
|
|
NM_032119.4(ADGRV1):c.10142A>G (p.Asp3381Gly)
|
rs768784845
|
0.00002
|
|
NM_032119.4(ADGRV1):c.12485T>C (p.Ile4162Thr)
|
rs370746571
|
0.00002
|
|
NM_032119.4(ADGRV1):c.12767A>T (p.Asn4256Ile)
|
rs750752068
|
0.00002
|
|
NM_032119.4(ADGRV1):c.12896G>A (p.Arg4299Gln)
|
rs767181564
|
0.00002
|
|
NM_032119.4(ADGRV1):c.14304G>A (p.Ser4768=)
|
rs373822878
|
0.00002
|
|
NM_032119.4(ADGRV1):c.14319A>G (p.Ile4773Met)
|
rs201953675
|
0.00002
|
|
NM_032119.4(ADGRV1):c.14931A>G (p.Leu4977=)
|
rs760841840
|
0.00002
|
|
NM_032119.4(ADGRV1):c.1505C>T (p.Ala502Val)
|
rs367826825
|
0.00002
|
|
NM_032119.4(ADGRV1):c.15719C>T (p.Thr5240Ile)
|
rs768299251
|
0.00002
|
|
NM_032119.4(ADGRV1):c.17518T>C (p.Tyr5840His)
|
rs757218098
|
0.00002
|
|
NM_032119.4(ADGRV1):c.3580G>C (p.Asp1194His)
|
rs779520200
|
0.00002
|
|
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr)
|
rs376900429
|
0.00002
|
|
NM_032119.4(ADGRV1):c.3838G>A (p.Asp1280Asn)
|
rs184031236
|
0.00002
|
|
NM_032119.4(ADGRV1):c.442T>C (p.Ser148Pro)
|
rs769994130
|
0.00002
|
|
NM_032119.4(ADGRV1):c.4550G>T (p.Arg1517Ile)
|
rs756555904
|
0.00002
|
|
NM_032119.4(ADGRV1):c.4975G>A (p.Glu1659Lys)
|
rs775893405
|
0.00002
|
|
NM_032119.4(ADGRV1):c.5835G>A (p.Lys1945=)
|
rs569899625
|
0.00002
|
|
NM_032119.4(ADGRV1):c.5969T>C (p.Val1990Ala)
|
rs376559614
|
0.00002
|
|
NM_032119.4(ADGRV1):c.6524T>C (p.Val2175Ala)
|
rs771811961
|
0.00002
|
|
NM_032119.4(ADGRV1):c.6797G>A (p.Gly2266Asp)
|
rs771132013
|
0.00002
|
|
NM_032119.4(ADGRV1):c.787G>A (p.Val263Met)
|
rs727505056
|
0.00002
|
|
NM_032119.4(ADGRV1):c.8004C>T (p.Asp2668=)
|
rs369591434
|
0.00002
|
|
NM_032119.4(ADGRV1):c.9291T>G (p.Ser3097Arg)
|
rs727505041
|
0.00002
|
|
NM_032119.4(ADGRV1):c.968T>C (p.Ile323Thr)
|
rs757910491
|
0.00002
|
|
NM_032383.5(HPS3):c.2625C>T (p.Ser875=)
|
rs200121725
|
0.00002
|
|
NM_032387.5(WNK4):c.1080G>T (p.Ala360=)
|
rs748879947
|
0.00002
|
|
NM_032409.3(PINK1):c.414G>A (p.Pro138=)
|
rs773637957
|
0.00002
|
|
NM_032444.4(SLX4):c.4739+7G>A
|
rs748897456
|
0.00002
|
|
NM_032861.4(SERAC1):c.1309-19T>G
|
rs372001660
|
0.00002
|
|
NM_032888.4(COL27A1):c.295G>A (p.Ala99Thr)
|
rs748194962
|
0.00002
|
|
NM_033100.4(CDHR1):c.833C>T (p.Pro278Leu)
|
rs543254581
|
0.00002
|
|
NM_033159.4(HYAL1):c.915C>T (p.His305=)
|
rs1290078379
|
0.00002
|
|
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys)
|
rs370401336
|
0.00002
|
|
NM_033380.3(COL4A5):c.2295A>G (p.Pro765=)
|
rs141247183
|
0.00002
|
|
NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr)
|
rs766360534
|
0.00002
|
|
NM_052845.4(MMAB):c.298C>T (p.Leu100=)
|
rs751553040
|
0.00002
|
|
NM_052845.4(MMAB):c.372C>T (p.Val124=)
|
rs371092213
|
0.00002
|
|
NM_052867.4(NALCN):c.249G>A (p.Thr83=)
|
rs145910377
|
0.00002
|
|
NM_052867.4(NALCN):c.3845C>T (p.Ser1282Leu)
|
rs763353781
|
0.00002
|
|
NM_053013.4(ENO3):c.555C>T (p.Gly185=)
|
rs757606682
|
0.00002
|
|
NM_053025.4(MYLK):c.1023T>G (p.Thr341=)
|
rs201619646
|
0.00002
|
|
NM_053025.4(MYLK):c.1359C>T (p.Pro453=)
|
rs200973568
|
0.00002
|
|
NM_058246.4(DNAJB6):c.885C>G (p.Leu295=)
|
rs758663546
|
0.00002
|
|
NM_080680.3(COL11A2):c.1380G>A (p.Gly460=)
|
rs373168555
|
0.00002
|
|
NM_080680.3(COL11A2):c.1714C>A (p.His572Asn)
|
rs751888761
|
0.00002
|
|
NM_080680.3(COL11A2):c.2637T>C (p.Pro879=)
|
rs199677738
|
0.00002
|
|
NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser)
|
rs768902062
|
0.00002
|
|
NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys)
|
rs751612997
|
0.00002
|
|
NM_080680.3(COL11A2):c.3959G>A (p.Arg1320Gln)
|
rs372143434
|
0.00002
|
|
NM_080680.3(COL11A2):c.4010C>T (p.Ala1337Val)
|
rs756855492
|
0.00002
|
|
NM_080680.3(COL11A2):c.4481C>T (p.Pro1494Leu)
|
rs758796613
|
0.00002
|
|
NM_080680.3(COL11A2):c.4544C>T (p.Ser1515Leu)
|
rs764154647
|
0.00002
|
|
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=)
|
rs752823488
|
0.00002
|
|
NM_080680.3(COL11A2):c.5170C>T (p.Arg1724Trp)
|
rs762351406
|
0.00002
|
|
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly)
|
rs568840295
|
0.00002
|
|
NM_080680.3(COL11A2):c.844G>A (p.Val282Met)
|
rs146432857
|
0.00002
|
|
NM_080916.3(DGUOK):c.256-6C>T
|
rs568816337
|
0.00002
|
|
NM_130837.3(OPA1):c.1391G>A (p.Gly464Asp)
|
rs752296610
|
0.00002
|
|
NM_130837.3(OPA1):c.215A>C (p.Lys72Thr)
|
rs532878175
|
0.00002
|
|
NM_130837.3(OPA1):c.2959C>T (p.Arg987Cys)
|
rs145710079
|
0.00002
|
|
NM_130837.3(OPA1):c.305A>G (p.Tyr102Cys)
|
rs530896300
|
0.00002
|
|
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=)
|
rs772615481
|
0.00002
|
|
NM_138387.4(G6PC3):c.201C>T (p.Leu67=)
|
rs375273894
|
0.00002
|
|
NM_138694.4(PKHD1):c.10155A>G (p.Ala3385=)
|
rs773270584
|
0.00002
|
|
NM_138694.4(PKHD1):c.10743C>T (p.Leu3581=)
|
rs770308751
|
0.00002
|
|
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=)
|
rs375603741
|
0.00002
|
|
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile)
|
rs190315828
|
0.00002
|
|
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln)
|
rs201753421
|
0.00002
|
|
NM_138694.4(PKHD1):c.5301T>C (p.Ala1767=)
|
rs886061618
|
0.00002
|
|
NM_138694.4(PKHD1):c.8503G>A (p.Gly2835Arg)
|
rs771108371
|
0.00002
|
|
NM_139319.3(SLC17A8):c.1578C>T (p.Asp526=)
|
rs141294063
|
0.00002
|
|
NM_144670.6(A2ML1):c.3105A>G (p.Thr1035=)
|
rs201335448
|
0.00002
|
|
NM_144687.4(NLRP12):c.2574A>G (p.Leu858=)
|
rs750552324
|
0.00002
|
|
NM_144997.7(FLCN):c.249+4A>G
|
rs753648691
|
0.00002
|
|
NM_145200.5(CABP4):c.531C>A (p.Ile177=)
|
rs754194692
|
0.00002
|
|
NM_152263.4(TPM3):c.378-13C>T
|
rs367548433
|
0.00002
|
|
NM_152383.5(DIS3L2):c.2207C>T (p.Ala736Val)
|
rs780625125
|
0.00002
|
|
NM_152383.5(DIS3L2):c.519C>T (p.Ser173=)
|
rs143680532
|
0.00002
|
|
NM_152564.5(VPS13B):c.2583C>T (p.Cys861=)
|
rs199868590
|
0.00002
|
|
NM_152564.5(VPS13B):c.3813A>G (p.Thr1271=)
|
rs775071483
|
0.00002
|
|
NM_152564.5(VPS13B):c.3865A>G (p.Thr1289Ala)
|
rs752808333
|
0.00002
|
|
NM_152564.5(VPS13B):c.4908G>A (p.Arg1636=)
|
rs765924507
|
0.00002
|
|
NM_152564.5(VPS13B):c.672C>T (p.Tyr224=)
|
rs760171272
|
0.00002
|
|
NM_152564.5(VPS13B):c.7476A>G (p.Pro2492=)
|
rs913138802
|
0.00002
|
|
NM_152564.5(VPS13B):c.9573A>G (p.Ala3191=)
|
rs189680814
|
0.00002
|
|
NM_152564.5(VPS13B):c.9816G>A (p.Gln3272=)
|
rs1397608904
|
0.00002
|
|
NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=)
|
rs775601813
|
0.00002
|
|
NM_152703.5(SAMD9L):c.2387T>G (p.Ile796Ser)
|
rs774643105
|
0.00002
|
|
NM_170606.3(KMT2C):c.10957C>T (p.Pro3653Ser)
|
rs771311951
|
0.00002
|
|
NM_170606.3(KMT2C):c.13789C>T (p.Arg4597Cys)
|
rs543734103
|
0.00002
|
|
NM_170606.3(KMT2C):c.4576G>T (p.Ala1526Ser)
|
rs534362919
|
0.00002
|
|
NM_170682.4(P2RX2):c.1054G>A (p.Val352Ile)
|
rs775460016
|
0.00002
|
|
NM_172351.3(CD46):c.535G>C (p.Glu179Gln)
|
rs779174212
|
0.00002
|
|
NM_173354.5(SIK1):c.2034G>T (p.Gln678His)
|
rs775749558
|
0.00002
|
|
NM_174936.4(PCSK9):c.10G>A (p.Val4Ile)
|
rs186669805
|
0.00002
|
|
NM_174936.4(PCSK9):c.1733T>A (p.Val578Glu)
|
rs765583923
|
0.00002
|
|
NM_174936.4(PCSK9):c.2022C>T (p.Ala674=)
|
rs886046436
|
0.00002
|
|
NM_177438.3(DICER1):c.406G>C (p.Glu136Gln)
|
rs768445477
|
0.00002
|
|
NM_177438.3(DICER1):c.5516G>A (p.Arg1839Gln)
|
rs587778233
|
0.00002
|
|
NM_181458.4(PAX3):c.572T>C (p.Ile191Thr)
|
rs199560470
|
0.00002
|
|
NM_182760.4(SUMF1):c.1014+12C>T
|
rs776947608
|
0.00002
|
|
NM_182914.3(SYNE2):c.12942G>A (p.Ala4314=)
|
rs762957203
|
0.00002
|
|
NM_182914.3(SYNE2):c.17691A>G (p.Gln5897=)
|
rs971473774
|
0.00002
|
|
NM_182914.3(SYNE2):c.18660C>T (p.His6220=)
|
rs757875136
|
0.00002
|
|
NM_182914.3(SYNE2):c.8991G>A (p.Gln2997=)
|
rs773209564
|
0.00002
|
|
NM_182914.3(SYNE2):c.9778C>T (p.Arg3260Cys)
|
rs570116954
|
0.00002
|
|
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=)
|
rs537988425
|
0.00002
|
|
NM_194248.3(OTOF):c.3226T>C (p.Tyr1076His)
|
rs150782952
|
0.00002
|
|
NM_194248.3(OTOF):c.322A>G (p.Ile108Val)
|
rs727505189
|
0.00002
|
|
NM_194248.3(OTOF):c.55C>T (p.Arg19Trp)
|
rs727504985
|
0.00002
|
|
NM_198578.4(LRRK2):c.2070+9T>A
|
rs201389324
|
0.00002
|
|
NM_198578.4(LRRK2):c.6582T>C (p.Val2194=)
|
rs773085638
|
0.00002
|
|
NM_198578.4(LRRK2):c.839-4T>G
|
rs748213808
|
0.00002
|
|
NM_198904.4(GABRG2):c.759G>A (p.Lys253=)
|
rs202124575
|
0.00002
|
|
NM_198999.3(SLC26A5):c.636G>T (p.Gly212=)
|
rs770314412
|
0.00002
|
|
NM_199242.3(UNC13D):c.1890G>A (p.Ala630=)
|
rs753021453
|
0.00002
|
|
NM_201253.3(CRB1):c.867G>A (p.Thr289=)
|
rs147244321
|
0.00002
|
|
NM_206933.4(USH2A):c.11124C>G (p.Pro3708=)
|
rs773828586
|
0.00002
|
|
NM_206933.4(USH2A):c.1789C>A (p.His597Asn)
|
rs201127450
|
0.00002
|
|
NM_206933.4(USH2A):c.3666G>A (p.Ala1222=)
|
rs764479854
|
0.00002
|
|
NM_206933.4(USH2A):c.4071G>A (p.Thr1357=)
|
rs745962568
|
0.00002
|
|
NM_206933.4(USH2A):c.792G>A (p.Glu264=)
|
rs886043440
|
0.00002
|
|
NM_206933.4(USH2A):c.8028G>A (p.Pro2676=)
|
rs766443785
|
0.00002
|
|
NM_206933.4(USH2A):c.9047G>A (p.Cys3016Tyr)
|
rs759365458
|
0.00002
|
|
NM_206937.2(LIG4):c.1252T>C (p.Leu418=)
|
rs147181971
|
0.00002
|
|
NM_206937.2(LIG4):c.1971T>C (p.Asn657=)
|
rs764483419
|
0.00002
|
|
NM_212482.4(FN1):c.2112A>G (p.Thr704=)
|
rs1326049626
|
0.00002
|
|
NM_000017.4(ACADS):c.473-9T>G
|
rs751507296
|
0.00001
|
|
NM_000018.4(ACADVL):c.1575C>A (p.Val525=)
|
rs745996278
|
0.00001
|
|
NM_000018.4(ACADVL):c.1599C>T (p.Gly533=)
|
rs779770406
|
0.00001
|
|
NM_000018.4(ACADVL):c.1827+10G>A
|
rs766755156
|
0.00001
|
|
NM_000018.4(ACADVL):c.201G>A (p.Lys67=)
|
rs753577095
|
0.00001
|
|
NM_000018.4(ACADVL):c.216C>T (p.Ser72=)
|
rs761492981
|
0.00001
|
|
NM_000018.4(ACADVL):c.278-8C>T
|
rs1178133251
|
0.00001
|
|
NM_000018.4(ACADVL):c.342+18G>A
|
rs372594520
|
0.00001
|
|
NM_000018.4(ACADVL):c.51C>T (p.Leu17=)
|
rs376733533
|
0.00001
|
|
NM_000018.4(ACADVL):c.62+20G>A
|
rs369163211
|
0.00001
|
|
NM_000018.4(ACADVL):c.867G>T (p.Gly289=)
|
rs745557512
|
0.00001
|
|
NM_000018.4(ACADVL):c.879-16C>A
|
rs780626099
|
0.00001
|
|
NM_000018.4(ACADVL):c.969G>A (p.Leu323=)
|
rs749734276
|
0.00001
|
|
NM_000019.4(ACAT1):c.1191T>C (p.His397=)
|
rs1439617035
|
0.00001
|
|
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
|
rs748749897
|
0.00001
|
|
NM_000019.4(ACAT1):c.138T>C (p.Ser46=)
|
rs763375578
|
0.00001
|
|
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
|
rs757128075
|
0.00001
|
|
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)
|
rs536301499
|
0.00001
|
|
NM_000019.4(ACAT1):c.532T>C (p.Leu178=)
|
rs370063325
|
0.00001
|
|
NM_000022.4(ADA):c.479-9C>T
|
rs761848284
|
0.00001
|
|
NM_000022.4(ADA):c.672A>G (p.Val224=)
|
rs753855163
|
0.00001
|
|
NM_000022.4(ADA):c.679-8C>T
|
rs886056707
|
0.00001
|
|
NM_000022.4(ADA):c.941A>G (p.Asp314Gly)
|
rs547569818
|
0.00001
|
|
NM_000023.4(SGCA):c.354G>A (p.Gln118=)
|
rs772233387
|
0.00001
|
|
NM_000023.4(SGCA):c.591C>T (p.Tyr197=)
|
rs756137267
|
0.00001
|
|
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu)
|
rs746180694
|
0.00001
|
|
NM_000026.4(ADSL):c.579G>C (p.Leu193=)
|
rs751928831
|
0.00001
|
|
NM_000027.4(AGA):c.657T>C (p.Ala219=)
|
rs886059261
|
0.00001
|
|
NM_000030.3(AGXT):c.743C>T (p.Ala248Val)
|
rs372482918
|
0.00001
|
|
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val)
|
rs1324874967
|
0.00001
|
|
NM_000033.4(ABCD1):c.1260C>A (p.His420Gln)
|
rs782066367
|
0.00001
|
|
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys)
|
rs1255903649
|
0.00001
|
|
NM_000033.4(ABCD1):c.1369G>C (p.Val457Leu)
|
rs781866876
|
0.00001
|
|
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=)
|
rs1557055319
|
0.00001
|
|
NM_000033.4(ABCD1):c.692G>A (p.Arg231Gln)
|
rs782143050
|
0.00001
|
|
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)
|
rs200849757
|
0.00001
|
|
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val)
|
rs781970988
|
0.00001
|
|
NM_000035.4(ALDOB):c.243C>T (p.His81=)
|
rs182003715
|
0.00001
|
|
NM_000035.4(ALDOB):c.270G>A (p.Gln90=)
|
rs1176960115
|
0.00001
|
|
NM_000035.4(ALDOB):c.309C>T (p.Ile103=)
|
rs747019279
|
0.00001
|
|
NM_000037.4(ANK1):c.711+13C>T
|
rs763737257
|
0.00001
|
|
NM_000038.6(APC):c.1121G>A (p.Arg374Gln)
|
rs141582813
|
0.00001
|
|
NM_000038.6(APC):c.1409-17T>G
|
rs764042245
|
0.00001
|
|
NM_000038.6(APC):c.1744-14C>A
|
rs761403505
|
0.00001
|
|
NM_000038.6(APC):c.3161A>C (p.His1054Pro)
|
rs777538550
|
0.00001
|
|
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)
|
rs149353082
|
0.00001
|
|
NM_000038.6(APC):c.3653C>T (p.Thr1218Met)
|
rs377640390
|
0.00001
|
|
NM_000038.6(APC):c.6508C>T (p.Pro2170Ser)
|
rs1229142303
|
0.00001
|
|
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg)
|
rs1057517549
|
0.00001
|
|
NM_000045.4(ARG1):c.305+7T>C
|
rs886061060
|
0.00001
|
|
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
|
rs762454192
|
0.00001
|
|
NM_000046.5(ARSB):c.723G>A (p.Val241=)
|
rs199858121
|
0.00001
|
|
NM_000048.4(ASL):c.1230G>C (p.Leu410=)
|
rs1397223617
|
0.00001
|
|
NM_000048.4(ASL):c.474C>T (p.Tyr158=)
|
rs1361999742
|
0.00001
|
|
NM_000048.4(ASL):c.720C>T (p.Ala240=)
|
rs764072757
|
0.00001
|
|
NM_000049.4(ASPA):c.448C>T (p.Leu150=)
|
rs1597432362
|
0.00001
|
|
NM_000049.4(ASPA):c.637A>G (p.Lys213Glu)
|
rs528179434
|
0.00001
|
|
NM_000049.4(ASPA):c.807G>A (p.Thr269=)
|
rs759106494
|
0.00001
|
|
NM_000049.4(ASPA):c.867C>T (p.Tyr289=)
|
rs375736464
|
0.00001
|
|
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)
|
rs34083085
|
0.00001
|
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
|
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)
|
rs587780614
|
0.00001
|
|
NM_000051.4(ATM):c.2839-10A>G
|
rs770032309
|
0.00001
|
|
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)
|
rs149911447
|
0.00001
|
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
|
NM_000051.4(ATM):c.3577-7C>T
|
rs558667657
|
0.00001
|
|
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)
|
rs183263185
|
0.00001
|
|
NM_000051.4(ATM):c.3982T>C (p.Leu1328=)
|
rs876658204
|
0.00001
|
|
NM_000051.4(ATM):c.411C>T (p.Tyr137=)
|
rs756160533
|
0.00001
|
|
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg)
|
rs527471560
|
0.00001
|
|
NM_000051.4(ATM):c.4436+10A>G
|
rs878853509
|
0.00001
|
|
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)
|
rs587782506
|
0.00001
|
|
NM_000051.4(ATM):c.4909+3G>A
|
rs778685122
|
0.00001
|
|
NM_000051.4(ATM):c.4910-4C>T
|
rs786202493
|
0.00001
|
|
NM_000051.4(ATM):c.4977A>T (p.Ile1659=)
|
rs199888434
|
0.00001
|
|
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu)
|
rs587782153
|
0.00001
|
|
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)
|
rs199836342
|
0.00001
|
|
NM_000051.4(ATM):c.5320-10T>C
|
rs864622731
|
0.00001
|
|
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr)
|
rs773546064
|
0.00001
|
|
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)
|
rs758908522
|
0.00001
|
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00001
|
|
NM_000051.4(ATM):c.6096-3T>C
|
rs748380897
|
0.00001
|
|
NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser)
|
rs946942912
|
0.00001
|
|
NM_000051.4(ATM):c.6318T>C (p.Asn2106=)
|
rs864622730
|
0.00001
|
|
NM_000051.4(ATM):c.6452+5T>A
|
rs533830556
|
0.00001
|
|
NM_000051.4(ATM):c.6572+4T>C
|
rs587780636
|
0.00001
|
|
NM_000051.4(ATM):c.7308-10T>G
|
rs745319720
|
0.00001
|
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
|
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)
|
rs777925486
|
0.00001
|
|
NM_000051.4(ATM):c.76G>C (p.Glu26Gln)
|
rs730881361
|
0.00001
|
|
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr)
|
rs746475628
|
0.00001
|
|
NM_000051.4(ATM):c.8584+6C>G
|
rs863224300
|
0.00001
|
|
NM_000051.4(ATM):c.8850+4A>C
|
rs587782335
|
0.00001
|
|
NM_000051.4(ATM):c.8987+3G>A
|
rs56360226
|
0.00001
|
|
NM_000051.4(ATM):c.8988-7T>G
|
rs1487809821
|
0.00001
|
|
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)
|
rs148061139
|
0.00001
|
|
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala)
|
rs1227094533
|
0.00001
|
|
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe)
|
rs1331470313
|
0.00001
|
|
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)
|
rs368355216
|
0.00001
|
|
NM_000052.7(ATP7A):c.1907G>A (p.Arg636Gln)
|
rs1557234412
|
0.00001
|
|
NM_000052.7(ATP7A):c.1947-5A>G
|
rs1557234466
|
0.00001
|
|
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His)
|
rs2234936
|
0.00001
|
|
NM_000052.7(ATP7A):c.3595G>A (p.Val1199Ile)
|
rs782026169
|
0.00001
|
|
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys)
|
rs782664232
|
0.00001
|
|
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys)
|
rs782062633
|
0.00001
|
|
NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala)
|
rs782799150
|
0.00001
|
|
NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu)
|
rs782146244
|
0.00001
|
|
NM_000053.4(ATP7B):c.1101C>T (p.Gly367=)
|
rs759359836
|
0.00001
|
|
NM_000053.4(ATP7B):c.1326G>T (p.Gly442=)
|
rs1371066375
|
0.00001
|
|
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=)
|
rs375689672
|
0.00001
|
|
NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys)
|
rs2277447
|
0.00001
|
|
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=)
|
rs533967323
|
0.00001
|
|
NM_000053.4(ATP7B):c.2463C>T (p.Pro821=)
|
rs755237462
|
0.00001
|
|
NM_000053.4(ATP7B):c.2622G>A (p.Ala874=)
|
rs896503662
|
0.00001
|
|
NM_000053.4(ATP7B):c.2712A>G (p.Glu904=)
|
rs146232015
|
0.00001
|
|
NM_000053.4(ATP7B):c.3114G>A (p.Arg1038=)
|
rs761888880
|
0.00001
|
|
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=)
|
rs1192564410
|
0.00001
|
|
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=)
|
rs587783314
|
0.00001
|
|
NM_000053.4(ATP7B):c.3557-8C>T
|
rs765668065
|
0.00001
|
|
NM_000053.4(ATP7B):c.3625C>T (p.Leu1209=)
|
rs61957448
|
0.00001
|
|
NM_000053.4(ATP7B):c.363C>T (p.Phe121=)
|
rs370199412
|
0.00001
|
|
NM_000053.4(ATP7B):c.3700-7G>A
|
rs756742483
|
0.00001
|
|
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)
|
rs375007352
|
0.00001
|
|
NM_000053.4(ATP7B):c.51+13C>T
|
rs770273498
|
0.00001
|
|
NM_000053.4(ATP7B):c.609C>T (p.Asp203=)
|
rs781140058
|
0.00001
|
|
NM_000057.4(BLM):c.1674A>T (p.Ile558=)
|
rs770573584
|
0.00001
|
|
NM_000057.4(BLM):c.1785A>T (p.Ser595=)
|
rs79871543
|
0.00001
|
|
NM_000057.4(BLM):c.1833A>G (p.Ser611=)
|
rs747181657
|
0.00001
|
|
NM_000057.4(BLM):c.2169A>G (p.Gln723=)
|
rs781635047
|
0.00001
|
|
NM_000057.4(BLM):c.2211G>C (p.Leu737=)
|
rs933356579
|
0.00001
|
|
NM_000057.4(BLM):c.2308-5C>T
|
rs957805754
|
0.00001
|
|
NM_000057.4(BLM):c.2490G>A (p.Thr830=)
|
rs765233032
|
0.00001
|
|
NM_000057.4(BLM):c.2555+8G>A
|
rs1388713132
|
0.00001
|
|
NM_000057.4(BLM):c.3210+4A>G
|
rs776621429
|
0.00001
|
|
NM_000057.4(BLM):c.3267A>G (p.Gln1089=)
|
rs1396484162
|
0.00001
|
|
NM_000057.4(BLM):c.3585C>T (p.Ser1195=)
|
rs1023322113
|
0.00001
|
|
NM_000057.4(BLM):c.3609G>A (p.Ala1203=)
|
rs151114049
|
0.00001
|
|
NM_000057.4(BLM):c.3924A>T (p.Gly1308=)
|
rs1019687102
|
0.00001
|
|
NM_000057.4(BLM):c.3933C>T (p.Ala1311=)
|
rs756451802
|
0.00001
|
|
NM_000057.4(BLM):c.437A>T (p.Asp146Val)
|
rs902876126
|
0.00001
|
|
NM_000057.4(BLM):c.696C>A (p.Ser232Arg)
|
rs201845548
|
0.00001
|
|
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)
|
rs397507568
|
0.00001
|
|
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)
|
rs80358439
|
0.00001
|
|
NM_000059.4(BRCA2):c.232C>T (p.Pro78Ser)
|
rs398122745
|
0.00001
|
|
NM_000059.4(BRCA2):c.2524G>C (p.Val842Leu)
|
rs587782454
|
0.00001
|
|
NM_000059.4(BRCA2):c.2698A>G (p.Asn900Asp)
|
rs55736268
|
0.00001
|
|
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)
|
rs397507296
|
0.00001
|
|
NM_000059.4(BRCA2):c.3088T>G (p.Phe1030Val)
|
rs80358554
|
0.00001
|
|
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn)
|
rs397507341
|
0.00001
|
|
NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile)
|
rs276174863
|
0.00001
|
|
NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr)
|
rs1060502377
|
0.00001
|
|
NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn)
|
rs541826447
|
0.00001
|
|
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val)
|
rs80359097
|
0.00001
|
|
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)
|
rs80359127
|
0.00001
|
|
NM_000059.4(BRCA2):c.8866G>C (p.Glu2956Gln)
|
rs142040996
|
0.00001
|
|
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala)
|
rs151174152
|
0.00001
|
|
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro)
|
rs80359155
|
0.00001
|
|
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala)
|
rs80359189
|
0.00001
|
|
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)
|
rs587776476
|
0.00001
|
|
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly)
|
rs80359224
|
0.00001
|
|
NM_000059.4(BRCA2):c.963A>G (p.Gln321=)
|
rs276174927
|
0.00001
|
|
NM_000061.3(BTK):c.852A>G (p.Lys284=)
|
rs1057515724
|
0.00001
|
|
NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met)
|
rs777962341
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2512G>A (p.Gly838Arg)
|
rs1356510559
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val)
|
rs757165791
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3256-9G>A
|
rs1294455750
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr)
|
rs200366112
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3823G>A (p.Val1275Ile)
|
rs760441649
|
0.00001
|
|
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln)
|
rs756438139
|
0.00001
|
|
NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys)
|
rs533353353
|
0.00001
|
|
NM_000069.3(CACNA1S):c.4598T>C (p.Phe1533Ser)
|
rs772750589
|
0.00001
|
|
NM_000069.3(CACNA1S):c.531G>A (p.Ser177=)
|
rs750087191
|
0.00001
|
|
NM_000069.3(CACNA1S):c.695-5T>A
|
rs1487979476
|
0.00001
|
|
NM_000069.3(CACNA1S):c.826G>A (p.Asp276Asn)
|
rs757755172
|
0.00001
|
|
NM_000070.3(CAPN3):c.1062G>A (p.Val354=)
|
rs776793553
|
0.00001
|
|
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=)
|
rs766405190
|
0.00001
|
|
NM_000070.3(CAPN3):c.1947G>A (p.Glu649=)
|
rs79440238
|
0.00001
|
|
NM_000070.3(CAPN3):c.2051-8C>T
|
rs754375124
|
0.00001
|
|
NM_000070.3(CAPN3):c.2259C>T (p.Asp753=)
|
rs755010088
|
0.00001
|
|
NM_000071.3(CBS):c.1065G>A (p.Ala355=)
|
rs748552493
|
0.00001
|
|
NM_000071.3(CBS):c.1551G>A (p.Gln517=)
|
rs750311684
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=)
|
rs771587252
|
0.00001
|
|
NM_000079.4(CHRNA1):c.711C>T (p.Asn237=)
|
rs137852798
|
0.00001
|
|
NM_000081.4(LYST):c.2724C>T (p.Cys908=)
|
rs201440611
|
0.00001
|
|
NM_000082.4(ERCC8):c.42C>T (p.Asp14=)
|
rs886043215
|
0.00001
|
|
NM_000082.4(ERCC8):c.637T>C (p.Leu213=)
|
rs752757232
|
0.00001
|
|
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe)
|
rs72645362
|
0.00001
|
|
NM_000090.4(COL3A1):c.183C>T (p.Leu61=)
|
rs753474870
|
0.00001
|
|
NM_000090.4(COL3A1):c.2607+10G>A
|
rs367789349
|
0.00001
|
|
NM_000090.4(COL3A1):c.267A>G (p.Pro89=)
|
rs998965783
|
0.00001
|
|
NM_000091.5(COL4A3):c.1923A>C (p.Glu641Asp)
|
rs752819997
|
0.00001
|
|
NM_000091.5(COL4A3):c.2096T>C (p.Ile699Thr)
|
rs754146345
|
0.00001
|
|
NM_000091.5(COL4A3):c.2746+17C>T
|
rs765408537
|
0.00001
|
|
NM_000091.5(COL4A3):c.3264T>G (p.Pro1088=)
|
rs770449474
|
0.00001
|
|
NM_000092.5(COL4A4):c.133G>T (p.Gly45Cys)
|
rs753016038
|
0.00001
|
|
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile)
|
rs759828394
|
0.00001
|
|
NM_000092.5(COL4A4):c.2407C>T (p.Leu803=)
|
rs762646235
|
0.00001
|
|
NM_000092.5(COL4A4):c.2549C>T (p.Ala850Val)
|
rs758199486
|
0.00001
|
|
NM_000092.5(COL4A4):c.264A>G (p.Ser88=)
|
rs746574978
|
0.00001
|
|
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu)
|
rs769138971
|
0.00001
|
|
NM_000092.5(COL4A4):c.303A>T (p.Gly101=)
|
rs1450052915
|
0.00001
|
|
NM_000092.5(COL4A4):c.3506-8T>G
|
rs761588725
|
0.00001
|
|
NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=)
|
rs1384523881
|
0.00001
|
|
NM_000092.5(COL4A4):c.4273T>C (p.Ser1425Pro)
|
rs764494474
|
0.00001
|
|
NM_000093.5(COL5A1):c.4831A>C (p.Ile1611Leu)
|
rs754447923
|
0.00001
|
|
NM_000094.4(COL7A1):c.1403G>A (p.Arg468His)
|
rs768672251
|
0.00001
|
|
NM_000094.4(COL7A1):c.1720C>T (p.Arg574Trp)
|
rs200762860
|
0.00001
|
|
NM_000094.4(COL7A1):c.2016G>C (p.Glu672Asp)
|
rs754341326
|
0.00001
|
|
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=)
|
rs549271654
|
0.00001
|
|
NM_000094.4(COL7A1):c.2557G>A (p.Gly853Ser)
|
rs773229775
|
0.00001
|
|
NM_000094.4(COL7A1):c.2852G>A (p.Arg951His)
|
rs540205999
|
0.00001
|
|
NM_000094.4(COL7A1):c.2968C>T (p.Arg990Trp)
|
rs763751979
|
0.00001
|
|
NM_000094.4(COL7A1):c.3727C>T (p.Arg1243Trp)
|
rs1189017197
|
0.00001
|
|
NM_000094.4(COL7A1):c.3771G>A (p.Gly1257=)
|
rs778777140
|
0.00001
|
|
NM_000094.4(COL7A1):c.4635+10G>A
|
rs749722600
|
0.00001
|
|
NM_000094.4(COL7A1):c.5559C>T (p.Asp1853=)
|
rs776433840
|
0.00001
|
|
NM_000094.4(COL7A1):c.5661G>C (p.Gly1887=)
|
rs371009419
|
0.00001
|
|
NM_000094.4(COL7A1):c.6075C>T (p.Gly2025=)
|
rs763329165
|
0.00001
|
|
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu)
|
rs377112899
|
0.00001
|
|
NM_000094.4(COL7A1):c.631G>A (p.Val211Ile)
|
rs557797952
|
0.00001
|
|
NM_000094.4(COL7A1):c.6447C>T (p.Asp2149=)
|
rs199843749
|
0.00001
|
|
NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe)
|
rs575575729
|
0.00001
|
|
NM_000094.4(COL7A1):c.6884C>T (p.Thr2295Met)
|
rs757102252
|
0.00001
|
|
NM_000094.4(COL7A1):c.6954T>C (p.Leu2318=)
|
rs1054273238
|
0.00001
|
|
NM_000094.4(COL7A1):c.8167C>T (p.Pro2723Ser)
|
rs774540354
|
0.00001
|
|
NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=)
|
rs751768659
|
0.00001
|
|
NM_000095.3(COMP):c.1110G>A (p.Ala370=)
|
rs780972997
|
0.00001
|
|
NM_000095.3(COMP):c.1563G>A (p.Pro521=)
|
rs756075225
|
0.00001
|
|
NM_000096.4(CP):c.1380C>T (p.Thr460=)
|
rs149790356
|
0.00001
|
|
NM_000096.4(CP):c.2697T>C (p.Val899=)
|
rs17847022
|
0.00001
|
|
NM_000097.7(CPOX):c.557-10C>G
|
rs1553696573
|
0.00001
|
|
NM_000098.3(CPT2):c.1233G>A (p.Thr411=)
|
rs112914907
|
0.00001
|
|
NM_000098.3(CPT2):c.1476C>T (p.Ala492=)
|
rs548364005
|
0.00001
|
|
NM_000098.3(CPT2):c.1536C>T (p.Cys512=)
|
rs199573389
|
0.00001
|
|
NM_000098.3(CPT2):c.36G>C (p.Arg12=)
|
rs1350688021
|
0.00001
|
|
NM_000108.5(DLD):c.1266A>G (p.Pro422=)
|
rs766756785
|
0.00001
|
|
NM_000108.5(DLD):c.1500T>C (p.Ala500=)
|
rs773097788
|
0.00001
|
|
NM_000108.5(DLD):c.199-7G>T
|
rs1358100638
|
0.00001
|
|
NM_000108.5(DLD):c.375G>A (p.Glu125=)
|
rs559057715
|
0.00001
|
|
NM_000117.3(EMD):c.423T>G (p.Ser141=)
|
rs1209782193
|
0.00001
|
|
NM_000124.4(ERCC6):c.1452C>T (p.Asp484=)
|
rs762734699
|
0.00001
|
|
NM_000124.4(ERCC6):c.1606T>C (p.Leu536=)
|
rs759447711
|
0.00001
|
|
NM_000124.4(ERCC6):c.1888T>C (p.Leu630=)
|
rs747204355
|
0.00001
|
|
NM_000124.4(ERCC6):c.2013C>T (p.Ile671=)
|
rs546407915
|
0.00001
|
|
NM_000124.4(ERCC6):c.2037A>G (p.Gln679=)
|
rs756713165
|
0.00001
|
|
NM_000124.4(ERCC6):c.813C>T (p.Phe271=)
|
rs764319566
|
0.00001
|
|
NM_000126.4(ETFA):c.321C>T (p.His107=)
|
rs368550471
|
0.00001
|
|
NM_000126.4(ETFA):c.759T>C (p.Asp253=)
|
rs142970498
|
0.00001
|
|
NM_000126.4(ETFA):c.78T>C (p.Ala26=)
|
rs773298687
|
0.00001
|
|
NM_000127.3(EXT1):c.1266T>A (p.Ile422=)
|
rs899395870
|
0.00001
|
|
NM_000130.5(F5):c.1545C>T (p.Ile515=)
|
rs886045551
|
0.00001
|
|
NM_000130.5(F5):c.3255A>C (p.Thr1085=)
|
rs6006
|
0.00001
|
|
NM_000130.5(F5):c.3810C>G (p.Ala1270=)
|
rs781657137
|
0.00001
|
|
NM_000130.5(F5):c.5001G>A (p.Pro1667=)
|
rs747456938
|
0.00001
|
|
NM_000130.5(F5):c.5788+4A>T
|
rs759428783
|
0.00001
|
|
NM_000130.5(F5):c.6360G>A (p.Lys2120=)
|
rs757104503
|
0.00001
|
|
NM_000135.4(FANCA):c.1007-7C>G
|
rs111271660
|
0.00001
|
|
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys)
|
rs375895456
|
0.00001
|
|
NM_000135.4(FANCA):c.1500C>T (p.Pro500=)
|
rs139276494
|
0.00001
|
|
NM_000135.4(FANCA):c.1632C>A (p.His544Gln)
|
rs553129361
|
0.00001
|
|
NM_000135.4(FANCA):c.1803G>A (p.Val601=)
|
rs757053400
|
0.00001
|
|
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val)
|
rs199599499
|
0.00001
|
|
NM_000135.4(FANCA):c.1990A>G (p.Met664Val)
|
rs748579719
|
0.00001
|
|
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala)
|
rs746373917
|
0.00001
|
|
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu)
|
rs148203537
|
0.00001
|
|
NM_000135.4(FANCA):c.2394C>T (p.Leu798=)
|
rs765883419
|
0.00001
|
|
NM_000135.4(FANCA):c.2602-8T>C
|
rs772897825
|
0.00001
|
|
NM_000135.4(FANCA):c.2779-9C>G
|
rs764825402
|
0.00001
|
|
NM_000135.4(FANCA):c.2874G>A (p.Ala958=)
|
rs199916178
|
0.00001
|
|
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met)
|
rs140124051
|
0.00001
|
|
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=)
|
rs753864057
|
0.00001
|
|
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=)
|
rs762719233
|
0.00001
|
|
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)
|
rs772828870
|
0.00001
|
|
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)
|
rs765106818
|
0.00001
|
|
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)
|
rs201492940
|
0.00001
|
|
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)
|
rs748713183
|
0.00001
|
|
NM_000135.4(FANCA):c.3626+7G>A
|
rs933657325
|
0.00001
|
|
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu)
|
rs769919783
|
0.00001
|
|
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)
|
rs745665658
|
0.00001
|
|
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)
|
rs768380959
|
0.00001
|
|
NM_000135.4(FANCA):c.3858C>T (p.His1286=)
|
rs761705192
|
0.00001
|
|
NM_000135.4(FANCA):c.39G>C (p.Gln13His)
|
rs1486155993
|
0.00001
|
|
NM_000135.4(FANCA):c.582A>G (p.Gln194=)
|
rs748517164
|
0.00001
|
|
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys)
|
rs376307136
|
0.00001
|
|
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys)
|
rs886052487
|
0.00001
|
|
NM_000135.4(FANCA):c.793-12C>G
|
rs746312984
|
0.00001
|
|
NM_000135.4(FANCA):c.797C>T (p.Thr266Met)
|
rs752799441
|
0.00001
|
|
NM_000135.4(FANCA):c.913C>T (p.His305Tyr)
|
rs774054025
|
0.00001
|
|
NM_000136.3(FANCC):c.1048A>G (p.Met350Val)
|
rs863224607
|
0.00001
|
|
NM_000137.4(FAH):c.1180+10G>A
|
rs758464032
|
0.00001
|
|
NM_000137.4(FAH):c.296A>G (p.Asp99Gly)
|
rs547847694
|
0.00001
|
|
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile)
|
rs1485432119
|
0.00001
|
|
NM_000138.5(FBN1):c.1653C>T (p.Gly551=)
|
rs766565738
|
0.00001
|
|
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn)
|
rs377686210
|
0.00001
|
|
NM_000138.5(FBN1):c.2228G>A (p.Arg743His)
|
rs761942436
|
0.00001
|
|
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val)
|
rs772308703
|
0.00001
|
|
NM_000138.5(FBN1):c.353A>G (p.His118Arg)
|
rs765503809
|
0.00001
|
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
|
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)
|
rs202192505
|
0.00001
|
|
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)
|
rs761187818
|
0.00001
|
|
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln)
|
rs759791896
|
0.00001
|
|
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile)
|
rs145082616
|
0.00001
|
|
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)
|
rs993464239
|
0.00001
|
|
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser)
|
rs773486280
|
0.00001
|
|
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)
|
rs773204216
|
0.00001
|
|
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)
|
rs1316593215
|
0.00001
|
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
|
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)
|
rs199750146
|
0.00001
|
|
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val)
|
rs774698871
|
0.00001
|
|
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met)
|
rs138184493
|
0.00001
|
|
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)
|
rs200231626
|
0.00001
|
|
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)
|
rs371939796
|
0.00001
|
|
NM_000141.5(FGFR2):c.1239G>A (p.Pro413=)
|
rs147674677
|
0.00001
|
|
NM_000141.5(FGFR2):c.138A>C (p.Gln46His)
|
rs748117555
|
0.00001
|
|
NM_000142.5(FGFR3):c.150C>T (p.Val50=)
|
rs750641928
|
0.00001
|
|
NM_000142.5(FGFR3):c.446-10C>T
|
rs762297923
|
0.00001
|
|
NM_000142.5(FGFR3):c.630G>A (p.Gln210=)
|
rs777091470
|
0.00001
|
|
NM_000142.5(FGFR3):c.666C>T (p.Asp222=)
|
rs201081464
|
0.00001
|
|
NM_000143.4(FH):c.1390+6T>A
|
rs1338650106
|
0.00001
|
|
NM_000143.4(FH):c.219G>A (p.Val73=)
|
rs1213056420
|
0.00001
|
|
NM_000143.4(FH):c.414C>T (p.Leu138=)
|
rs540968725
|
0.00001
|
|
NM_000143.4(FH):c.648T>A (p.Asp216Glu)
|
rs199536615
|
0.00001
|
|
NM_000143.4(FH):c.655G>A (p.Asp219Asn)
|
rs11545656
|
0.00001
|
|
NM_000147.5(FUCA1):c.30G>C (p.Pro10=)
|
rs886046326
|
0.00001
|
|
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=)
|
rs779263877
|
0.00001
|
|
NM_000151.4(G6PC1):c.231-12G>A
|
rs373908549
|
0.00001
|
|
NM_000151.4(G6PC1):c.340+7G>A
|
rs570199529
|
0.00001
|
|
NM_000151.4(G6PC1):c.879A>G (p.Pro293=)
|
rs529957748
|
0.00001
|
|
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
|
rs138262940
|
0.00001
|
|
NM_000152.5(GAA):c.1192C>T (p.Leu398=)
|
rs369707231
|
0.00001
|
|
NM_000152.5(GAA):c.1347G>A (p.Ser449=)
|
rs756938942
|
0.00001
|
|
NM_000152.5(GAA):c.1410C>T (p.Asn470=)
|
rs886043068
|
0.00001
|
|
NM_000152.5(GAA):c.1827C>T (p.Tyr609=)
|
rs745754277
|
0.00001
|
|
NM_000152.5(GAA):c.1842G>A (p.Thr614=)
|
rs373955374
|
0.00001
|
|
NM_000152.5(GAA):c.2427C>G (p.Ala809=)
|
rs766325117
|
0.00001
|
|
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly)
|
rs769578772
|
0.00001
|
|
NM_000152.5(GAA):c.2712G>A (p.Val904=)
|
rs886043848
|
0.00001
|
|
NM_000152.5(GAA):c.36C>T (p.Leu12=)
|
rs200548806
|
0.00001
|
|
NM_000152.5(GAA):c.444C>T (p.Tyr148=)
|
rs886043112
|
0.00001
|
|
NM_000152.5(GAA):c.630C>T (p.Ser210=)
|
rs775568949
|
0.00001
|
|
NM_000152.5(GAA):c.702G>A (p.Thr234=)
|
rs755337511
|
0.00001
|
|
NM_000152.5(GAA):c.900G>A (p.Ala300=)
|
rs759425304
|
0.00001
|
|
NM_000152.5(GAA):c.906G>A (p.Glu302=)
|
rs1488323868
|
0.00001
|
|
NM_000152.5(GAA):c.918G>A (p.Ser306=)
|
rs373276219
|
0.00001
|
|
NM_000152.5(GAA):c.993G>A (p.Arg331=)
|
rs749831587
|
0.00001
|
|
NM_000153.4(GALC):c.1443A>G (p.Pro481=)
|
rs1359281521
|
0.00001
|
|
NM_000153.4(GALC):c.1572C>T (p.Gly524=)
|
rs753164684
|
0.00001
|
|
NM_000153.4(GALC):c.1752A>G (p.Lys584=)
|
rs201016488
|
0.00001
|
|
NM_000153.4(GALC):c.2001A>C (p.Gly667=)
|
rs769902280
|
0.00001
|
|
NM_000153.4(GALC):c.450A>T (p.Pro150=)
|
rs886050866
|
0.00001
|
|
NM_000153.4(GALC):c.81C>T (p.Ala27=)
|
rs759433028
|
0.00001
|
|
NM_000154.2(GALK1):c.321C>T (p.Ala107=)
|
rs771880802
|
0.00001
|
|
NM_000154.2(GALK1):c.786G>A (p.Glu262=)
|
rs756263074
|
0.00001
|
|
NM_000155.4(GALT):c.378-7C>T
|
rs751084584
|
0.00001
|
|
NM_000155.4(GALT):c.843G>A (p.Lys281=)
|
rs368298966
|
0.00001
|
|
NM_000158.4(GBE1):c.1335+9C>G
|
rs754084067
|
0.00001
|
|
NM_000158.4(GBE1):c.1581G>A (p.Thr527=)
|
rs140571802
|
0.00001
|
|
NM_000158.4(GBE1):c.692-6A>G
|
rs757655010
|
0.00001
|
|
NM_000159.4(GCDH):c.1082+8C>T
|
rs199627852
|
0.00001
|
|
NM_000159.4(GCDH):c.826G>T (p.Val276Leu)
|
rs763300541
|
0.00001
|
|
NM_000163.5(GHR):c.1686A>G (p.Gln562=)
|
rs145428904
|
0.00001
|
|
NM_000168.6(GLI3):c.1346G>A (p.Arg449Gln)
|
rs745809543
|
0.00001
|
|
NM_000168.6(GLI3):c.2432-5T>C
|
rs768250382
|
0.00001
|
|
NM_000170.3(GLDC):c.1210C>T (p.Leu404=)
|
rs781450542
|
0.00001
|
|
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln)
|
rs767652664
|
0.00001
|
|
NM_000170.3(GLDC):c.1402-14T>G
|
rs376719104
|
0.00001
|
|
NM_000170.3(GLDC):c.1665+7A>T
|
rs759573888
|
0.00001
|
|
NM_000170.3(GLDC):c.1734C>T (p.Asn578=)
|
rs1034614089
|
0.00001
|
|
NM_000170.3(GLDC):c.1830G>A (p.Gln610=)
|
rs765268971
|
0.00001
|
|
NM_000170.3(GLDC):c.2145C>T (p.Asp715=)
|
rs769158507
|
0.00001
|
|
NM_000170.3(GLDC):c.2742A>T (p.Ala914=)
|
rs374022098
|
0.00001
|
|
NM_000170.3(GLDC):c.2925C>T (p.Phe975=)
|
rs1052505781
|
0.00001
|
|
NM_000170.3(GLDC):c.668C>G (p.Pro223Arg)
|
rs201049516
|
0.00001
|
|
NM_000170.3(GLDC):c.96G>T (p.Pro32=)
|
rs1430526811
|
0.00001
|
|
NM_000181.4(GUSB):c.1050G>A (p.Lys350=)
|
rs121918182
|
0.00001
|
|
NM_000181.4(GUSB):c.1245-4G>A
|
rs548368848
|
0.00001
|
|
NM_000181.4(GUSB):c.210+11G>C
|
rs886062403
|
0.00001
|
|
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser)
|
rs561880652
|
0.00001
|
|
NM_000186.4(CFH):c.2783-8T>A
|
rs1351891195
|
0.00001
|
|
NM_000186.4(CFH):c.2784C>A (p.Gly928=)
|
rs755926856
|
0.00001
|
|
NM_000187.4(HGD):c.307C>A (p.Pro103Thr)
|
rs559502955
|
0.00001
|
|
NM_000188.3(HK1):c.2304C>T (p.Phe768=)
|
rs770824752
|
0.00001
|
|
NM_000188.3(HK1):c.840G>A (p.Glu280=)
|
rs1218129705
|
0.00001
|
|
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=)
|
rs200189529
|
0.00001
|
|
NM_000191.3(HMGCL):c.624G>A (p.Val208=)
|
rs747724373
|
0.00001
|
|
NM_000199.5(SGSH):c.1035C>T (p.Gly345=)
|
rs748069998
|
0.00001
|
|
NM_000199.5(SGSH):c.1455C>T (p.Gly485=)
|
rs757563981
|
0.00001
|
|
NM_000199.5(SGSH):c.258T>C (p.Asn86=)
|
rs1425717342
|
0.00001
|
|
NM_000199.5(SGSH):c.355+9C>T
|
rs746912493
|
0.00001
|
|
NM_000199.5(SGSH):c.356-6G>A
|
rs764808311
|
0.00001
|
|
NM_000199.5(SGSH):c.681C>A (p.Pro227=)
|
rs2041774244
|
0.00001
|
|
NM_000199.5(SGSH):c.75A>C (p.Ala25=)
|
rs1262969566
|
0.00001
|
|
NM_000199.5(SGSH):c.798A>G (p.Thr266=)
|
rs199562202
|
0.00001
|
|
NM_000199.5(SGSH):c.813G>A (p.Thr271=)
|
rs779676466
|
0.00001
|
|
NM_000199.5(SGSH):c.88+8C>T
|
rs75720127
|
0.00001
|
|
NM_000199.5(SGSH):c.93T>C (p.Asp31=)
|
rs982161788
|
0.00001
|
|
NM_000199.5(SGSH):c.942C>T (p.Ser314=)
|
rs759810426
|
0.00001
|
|
NM_000203.5(IDUA):c.1186C>T (p.Leu396=)
|
rs1011474273
|
0.00001
|
|
NM_000203.5(IDUA):c.1398C>T (p.Gly466=)
|
rs1370338557
|
0.00001
|
|
NM_000203.5(IDUA):c.1403-11A>G
|
rs1335436961
|
0.00001
|
|
NM_000203.5(IDUA):c.249C>T (p.Arg83=)
|
rs765563471
|
0.00001
|
|
NM_000203.5(IDUA):c.357C>T (p.Asp119=)
|
rs1262464994
|
0.00001
|
|
NM_000203.5(IDUA):c.972+8G>A
|
rs774327124
|
0.00001
|
|
NM_000206.3(IL2RG):c.311A>T (p.His104Leu)
|
rs770804846
|
0.00001
|
|
NM_000206.3(IL2RG):c.406C>T (p.Arg136Trp)
|
rs758080286
|
0.00001
|
|
NM_000206.3(IL2RG):c.924+9G>T
|
rs1198550634
|
0.00001
|
|
NM_000211.5(ITGB2):c.1688G>A (p.Arg563His)
|
rs550704811
|
0.00001
|
|
NM_000211.5(ITGB2):c.2247+10C>T
|
rs147248229
|
0.00001
|
|
NM_000211.5(ITGB2):c.328+14C>T
|
rs780089604
|
0.00001
|
|
NM_000211.5(ITGB2):c.432G>A (p.Arg144=)
|
rs886057119
|
0.00001
|
|
NM_000212.3(ITGB3):c.201G>A (p.Lys67=)
|
rs780479441
|
0.00001
|
|
NM_000216.4(ANOS1):c.1536G>A (p.Lys512=)
|
rs1449749900
|
0.00001
|
|
NM_000217.3(KCNA1):c.1086T>C (p.Ala362=)
|
rs1264032724
|
0.00001
|
|
NM_000222.3(KIT):c.2118T>G (p.Leu706=)
|
rs766840704
|
0.00001
|
|
NM_000222.3(KIT):c.2562C>G (p.Ser854=)
|
rs750039813
|
0.00001
|
|
NM_000222.3(KIT):c.2670C>T (p.Leu890=)
|
rs745967881
|
0.00001
|
|
NM_000228.3(LAMB3):c.1455G>A (p.Pro485=)
|
rs1033335294
|
0.00001
|
|
NM_000231.3(SGCG):c.267A>G (p.Pro89=)
|
rs149595403
|
0.00001
|
|
NM_000235.4(LIPA):c.1026G>A (p.Gly342=)
|
rs550415126
|
0.00001
|
|
NM_000243.3(MEFV):c.1401G>A (p.Glu467=)
|
rs1398639205
|
0.00001
|
|
NM_000243.3(MEFV):c.1455G>A (p.Glu485=)
|
rs958054431
|
0.00001
|
|
NM_000243.3(MEFV):c.1485G>A (p.Arg495=)
|
rs1012455878
|
0.00001
|
|
NM_000243.3(MEFV):c.1899G>A (p.Pro633=)
|
rs776315170
|
0.00001
|
|
NM_000243.3(MEFV):c.2169C>T (p.Asp723=)
|
rs104895117
|
0.00001
|
|
NM_000243.3(MEFV):c.30G>A (p.Leu10=)
|
rs553819712
|
0.00001
|
|
NM_000243.3(MEFV):c.405C>T (p.Tyr135=)
|
rs766323718
|
0.00001
|
|
NM_000243.3(MEFV):c.411C>T (p.Gly137=)
|
rs1266277814
|
0.00001
|
|
NM_000243.3(MEFV):c.426G>C (p.Leu142=)
|
rs1465332482
|
0.00001
|
|
NM_000243.3(MEFV):c.48G>A (p.Leu16=)
|
rs777381107
|
0.00001
|
|
NM_000243.3(MEFV):c.540G>C (p.Pro180=)
|
rs104895139
|
0.00001
|
|
NM_000243.3(MEFV):c.651G>C (p.Ala217=)
|
rs886051971
|
0.00001
|
|
NM_000243.3(MEFV):c.66G>A (p.Glu22=)
|
rs569040282
|
0.00001
|
|
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
|
NM_000243.3(MEFV):c.786T>C (p.Thr262=)
|
rs575521131
|
0.00001
|
|
NM_000243.3(MEFV):c.801A>G (p.Thr267=)
|
rs141455838
|
0.00001
|
|
NM_000246.4(CIITA):c.1149C>T (p.Ala383=)
|
rs748867171
|
0.00001
|
|
NM_000246.4(CIITA):c.1635C>G (p.Leu545=)
|
rs748330320
|
0.00001
|
|
NM_000246.4(CIITA):c.200-9T>C
|
rs778238111
|
0.00001
|
|
NM_000246.4(CIITA):c.2139G>A (p.Leu713=)
|
rs1319022837
|
0.00001
|
|
NM_000246.4(CIITA):c.2256G>A (p.Glu752=)
|
rs200577013
|
0.00001
|
|
NM_000246.4(CIITA):c.2709G>A (p.Gly903=)
|
rs755515727
|
0.00001
|
|
NM_000246.4(CIITA):c.2994G>A (p.Lys998=)
|
rs1286058878
|
0.00001
|
|
NM_000246.4(CIITA):c.3088C>T (p.Leu1030=)
|
rs763766993
|
0.00001
|
|
NM_000246.4(CIITA):c.3149+11C>T
|
rs371453398
|
0.00001
|
|
NM_000246.4(CIITA):c.3233+7G>A
|
rs765558693
|
0.00001
|
|
NM_000246.4(CIITA):c.436+9del
|
rs1567398077
|
0.00001
|
|
NM_000255.4(MMUT):c.1476C>T (p.Tyr492=)
|
rs779301267
|
0.00001
|
|
NM_000255.4(MMUT):c.1494C>T (p.Asp498=)
|
rs752651149
|
0.00001
|
|
NM_000255.4(MMUT):c.1659G>A (p.Val553=)
|
rs764316430
|
0.00001
|
|
NM_000255.4(MMUT):c.2082G>A (p.Arg694=)
|
rs752705830
|
0.00001
|
|
NM_000260.4(MYO7A):c.1056G>A (p.Leu352=)
|
rs886044867
|
0.00001
|
|
NM_000260.4(MYO7A):c.2025C>T (p.Arg675=)
|
rs797044658
|
0.00001
|
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293
|
0.00001
|
|
NM_000260.4(MYO7A):c.2382C>T (p.Phe794=)
|
rs970183279
|
0.00001
|
|
NM_000260.4(MYO7A):c.2487G>A (p.Val829=)
|
rs1452906057
|
0.00001
|
|
NM_000260.4(MYO7A):c.3582C>T (p.Leu1194=)
|
rs886044828
|
0.00001
|
|
NM_000260.4(MYO7A):c.359G>A (p.Arg120His)
|
rs369493667
|
0.00001
|
|
NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=)
|
rs767426033
|
0.00001
|
|
NM_000260.4(MYO7A):c.4993G>A (p.Asp1665Asn)
|
rs759272365
|
0.00001
|
|
NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser)
|
rs535102352
|
0.00001
|
|
NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=)
|
rs749438001
|
0.00001
|
|
NM_000260.4(MYO7A):c.5781C>T (p.Phe1927=)
|
rs1167983525
|
0.00001
|
|
NM_000260.4(MYO7A):c.5969A>G (p.Gln1990Arg)
|
rs560293591
|
0.00001
|
|
NM_000262.3(NAGA):c.12G>A (p.Lys4=)
|
rs776865602
|
0.00001
|
|
NM_000262.3(NAGA):c.549C>T (p.Ile183=)
|
rs374984089
|
0.00001
|
|
NM_000264.5(PTCH1):c.1193C>T (p.Ala398Val)
|
rs375098989
|
0.00001
|
|
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=)
|
rs766039170
|
0.00001
|
|
NM_000264.5(PTCH1):c.1712G>A (p.Arg571Gln)
|
rs377566861
|
0.00001
|
|
NM_000264.5(PTCH1):c.2176C>T (p.Pro726Ser)
|
rs758811078
|
0.00001
|
|
NM_000264.5(PTCH1):c.2306C>T (p.Thr769Ile)
|
rs755391704
|
0.00001
|
|
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=)
|
rs766227557
|
0.00001
|
|
NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala)
|
rs1060502284
|
0.00001
|
|
NM_000264.5(PTCH1):c.777C>T (p.Phe259=)
|
rs750313305
|
0.00001
|
|
NM_000268.4(NF2):c.903C>T (p.Ile301=)
|
rs199957176
|
0.00001
|
|
NM_000271.5(NPC1):c.1371T>C (p.Tyr457=)
|
rs779065920
|
0.00001
|
|
NM_000271.5(NPC1):c.2304C>T (p.Val768=)
|
rs183935795
|
0.00001
|
|
NM_000271.5(NPC1):c.2373+14A>G
|
rs771523995
|
0.00001
|
|
NM_000271.5(NPC1):c.2514+7G>A
|
rs764548800
|
0.00001
|
|
NM_000271.5(NPC1):c.3312G>A (p.Val1104=)
|
rs746476066
|
0.00001
|
|
NM_000271.5(NPC1):c.699G>A (p.Glu233=)
|
rs769468514
|
0.00001
|
|
NM_000273.3(GPR143):c.251-9C>A
|
rs374596288
|
0.00001
|
|
NM_000274.4(OAT):c.606G>A (p.Pro202=)
|
rs369806549
|
0.00001
|
|
NM_000274.4(OAT):c.639C>T (p.Pro213=)
|
rs773314783
|
0.00001
|
|
NM_000275.3(OCA2):c.2473A>T (p.Met825Leu)
|
rs763881975
|
0.00001
|
|
NM_000277.3(PAH):c.198A>G (p.Glu66=)
|
rs117308669
|
0.00001
|
|
NM_000277.3(PAH):c.786C>T (p.Val262=)
|
rs776860902
|
0.00001
|
|
NM_000281.4(PCBD1):c.294A>G (p.Gln98=)
|
rs773744136
|
0.00001
|
|
NM_000282.4(PCCA):c.432A>G (p.Gly144=)
|
rs768756825
|
0.00001
|
|
NM_000282.4(PCCA):c.54G>A (p.Gly18=)
|
rs1373903905
|
0.00001
|
|
NM_000282.4(PCCA):c.762C>T (p.Gly254=)
|
rs758211858
|
0.00001
|
|
NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn)
|
rs574098823
|
0.00001
|
|
NM_000284.4(PDHA1):c.292-23A>G
|
rs1057518702
|
0.00001
|
|
NM_000285.4(PEPD):c.969T>C (p.Gly323=)
|
rs1568445341
|
0.00001
|
|
NM_000288.4(PEX7):c.748-10T>C
|
rs886061122
|
0.00001
|
|
NM_000288.4(PEX7):c.843A>G (p.Thr281=)
|
rs767903764
|
0.00001
|
|
NM_000289.6(PFKM):c.1005A>G (p.Val335=)
|
rs1454843075
|
0.00001
|
|
NM_000289.6(PFKM):c.1242C>G (p.Gly414=)
|
rs886049454
|
0.00001
|
|
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
|
rs1313998695
|
0.00001
|
|
NM_000293.3(PHKB):c.1797+9G>A
|
rs746001808
|
0.00001
|
|
NM_000293.3(PHKB):c.2106C>T (p.Thr702=)
|
rs1248967430
|
0.00001
|
|
NM_000293.3(PHKB):c.2186A>C (p.Gln729Pro)
|
rs573384357
|
0.00001
|
|
NM_000293.3(PHKB):c.2196+14A>G
|
rs751084282
|
0.00001
|
|
NM_000294.3(PHKG2):c.95+11G>A
|
rs886051910
|
0.00001
|
|
NM_000295.5(SERPINA1):c.1104G>A (p.Gly368=)
|
rs1378794678
|
0.00001
|
|
NM_000295.5(SERPINA1):c.587T>C (p.Leu196Ser)
|
rs368433503
|
0.00001
|
|
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=)
|
rs142934642
|
0.00001
|
|
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=)
|
rs140513387
|
0.00001
|
|
NM_000302.4(PLOD1):c.742-9C>G
|
rs771746998
|
0.00001
|
|
NM_000302.4(PLOD1):c.948A>G (p.Lys316=)
|
rs746354303
|
0.00001
|
|
NM_000303.3(PMM2):c.126A>G (p.Gly42=)
|
rs766984518
|
0.00001
|
|
NM_000304.4(PMP22):c.327C>T (p.Cys109=)
|
rs863225028
|
0.00001
|
|
NM_000310.4(PPT1):c.12C>T (p.Pro4=)
|
rs140289866
|
0.00001
|
|
NM_000312.4(PROC):c.1326C>T (p.Leu442=)
|
rs748650244
|
0.00001
|
|
NM_000312.4(PROC):c.660G>A (p.Arg220=)
|
rs1688487502
|
0.00001
|
|
NM_000312.4(PROC):c.70+13C>G
|
rs200660332
|
0.00001
|
|
NM_000314.8(PTEN):c.114T>G (p.Pro38=)
|
rs748040144
|
0.00001
|
|
NM_000314.8(PTEN):c.253+4G>A
|
rs1060500112
|
0.00001
|
|
NM_000314.8(PTEN):c.78C>T (p.Thr26=)
|
rs786201280
|
0.00001
|
|
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys)
|
rs770427885
|
0.00001
|
|
NM_000318.3(PEX2):c.666A>G (p.Ser222=)
|
rs1806901488
|
0.00001
|
|
NM_000320.3(QDPR):c.147C>T (p.Ser49=)
|
rs758659025
|
0.00001
|
|
NM_000320.3(QDPR):c.444C>T (p.Ile148=)
|
rs754982401
|
0.00001
|
|
NM_000321.3(RB1):c.-149G>T
|
rs1014776340
|
0.00001
|
|
NM_000321.3(RB1):c.1351C>T (p.Arg451Cys)
|
rs759079385
|
0.00001
|
|
NM_000321.3(RB1):c.1667G>A (p.Arg556Gln)
|
rs773116120
|
0.00001
|
|
NM_000321.3(RB1):c.1696-4A>G
|
rs143685082
|
0.00001
|
|
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu)
|
rs3092903
|
0.00001
|
|
NM_000321.3(RB1):c.2289A>T (p.Arg763Ser)
|
rs1167280920
|
0.00001
|
|
NM_000321.3(RB1):c.784C>T (p.Arg262Trp)
|
rs556201144
|
0.00001
|
|
NM_000330.4(RS1):c.326+1159C>G
|
rs587783160
|
0.00001
|
|
NM_000334.4(SCN4A):c.1575C>T (p.Ser525=)
|
rs376538198
|
0.00001
|
|
NM_000334.4(SCN4A):c.219G>A (p.Pro73=)
|
rs779890709
|
0.00001
|
|
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=)
|
rs769625349
|
0.00001
|
|
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=)
|
rs1244264430
|
0.00001
|
|
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=)
|
rs761023866
|
0.00001
|
|
NM_000334.4(SCN4A):c.858G>A (p.Pro286=)
|
rs560230431
|
0.00001
|
|
NM_000335.5(SCN5A):c.1338+18C>T
|
rs761031894
|
0.00001
|
|
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=)
|
rs751050999
|
0.00001
|
|
NM_000335.5(SCN5A):c.2379C>T (p.Leu793=)
|
rs758397582
|
0.00001
|
|
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg)
|
rs45475899
|
0.00001
|
|
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile)
|
rs199473177
|
0.00001
|
|
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=)
|
rs781529391
|
0.00001
|
|
NM_000335.5(SCN5A):c.393-4G>A
|
rs1390882998
|
0.00001
|
|
NM_000335.5(SCN5A):c.4218C>T (p.Ala1406=)
|
rs373042738
|
0.00001
|
|
NM_000335.5(SCN5A):c.4243-4C>T
|
rs772447988
|
0.00001
|
|
NM_000335.5(SCN5A):c.4812C>T (p.Gly1604=)
|
rs773016454
|
0.00001
|
|
NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=)
|
rs886058460
|
0.00001
|
|
NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=)
|
rs780761880
|
0.00001
|
|
NM_000335.5(SCN5A):c.703+11G>A
|
rs779138392
|
0.00001
|
|
NM_000341.4(SLC3A1):c.1269C>T (p.Ser423=)
|
rs557669708
|
0.00001
|
|
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro)
|
rs768426818
|
0.00001
|
|
NM_000342.4(SLC4A1):c.1269C>T (p.Phe423=)
|
rs768727937
|
0.00001
|
|
NM_000342.4(SLC4A1):c.2055C>T (p.Thr685=)
|
rs375136281
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=)
|
rs1229387697
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=)
|
rs1475148938
|
0.00001
|
|
NM_000343.4(SLC5A1):c.208-13T>A
|
rs200261297
|
0.00001
|
|
NM_000343.4(SLC5A1):c.609G>A (p.Thr203=)
|
rs200276021
|
0.00001
|
|
NM_000350.3(ABCA4):c.1082C>A (p.Ser361Tyr)
|
rs748487419
|
0.00001
|
|
NM_000350.3(ABCA4):c.1099+12G>T
|
rs756258615
|
0.00001
|
|
NM_000350.3(ABCA4):c.1821G>A (p.Gly607=)
|
rs201059645
|
0.00001
|
|
NM_000350.3(ABCA4):c.3096A>G (p.Gly1032=)
|
rs778400379
|
0.00001
|
|
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=)
|
rs187965758
|
0.00001
|
|
NM_000350.3(ABCA4):c.3813+7T>C
|
rs769882474
|
0.00001
|
|
NM_000350.3(ABCA4):c.4329C>T (p.Arg1443=)
|
rs374344839
|
0.00001
|
|
NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=)
|
rs750526487
|
0.00001
|
|
NM_000350.3(ABCA4):c.4518C>T (p.Ala1506=)
|
rs146011912
|
0.00001
|
|
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=)
|
rs774957381
|
0.00001
|
|
NM_000350.3(ABCA4):c.4593C>T (p.Ser1531=)
|
rs746070443
|
0.00001
|
|
NM_000350.3(ABCA4):c.5593C>T (p.His1865Tyr)
|
rs201707267
|
0.00001
|
|
NM_000352.6(ABCC8):c.1095C>T (p.Ala365=)
|
rs1256418853
|
0.00001
|
|
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=)
|
rs148811815
|
0.00001
|
|
NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile)
|
rs376206979
|
0.00001
|
|
NM_000352.6(ABCC8):c.2270C>G (p.Thr757Arg)
|
rs757961130
|
0.00001
|
|
NM_000352.6(ABCC8):c.2391-5G>A
|
rs370096884
|
0.00001
|
|
NM_000352.6(ABCC8):c.2391-6C>T
|
rs556416038
|
0.00001
|
|
NM_000352.6(ABCC8):c.255G>A (p.Leu85=)
|
rs1323334420
|
0.00001
|
|
NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=)
|
rs769968875
|
0.00001
|
|
NM_000352.6(ABCC8):c.4119+10C>T
|
rs201955628
|
0.00001
|
|
NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=)
|
rs752222583
|
0.00001
|
|
NM_000352.6(ABCC8):c.4314C>T (p.Asn1438=)
|
rs752809991
|
0.00001
|
|
NM_000352.6(ABCC8):c.4713C>T (p.Ser1571=)
|
rs747402972
|
0.00001
|
|
NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser)
|
rs574487898
|
0.00001
|
|
NM_000353.3(TAT):c.1042-12C>T
|
rs748571289
|
0.00001
|
|
NM_000353.3(TAT):c.1146T>C (p.His382=)
|
rs141534499
|
0.00001
|
|
NM_000353.3(TAT):c.1290G>A (p.Ala430=)
|
rs767563000
|
0.00001
|
|
NM_000355.4(TCN2):c.459C>T (p.Ser153=)
|
rs201344377
|
0.00001
|
|
NM_000360.4(TH):c.1077G>A (p.Ser359=)
|
rs759797905
|
0.00001
|
|
NM_000360.4(TH):c.1233C>T (p.Ala411=)
|
rs768695630
|
0.00001
|
|
NM_000360.4(TH):c.1290C>T (p.Val430=)
|
rs367962981
|
0.00001
|
|
NM_000360.4(TH):c.195G>A (p.Gly65=)
|
rs145628270
|
0.00001
|
|
NM_000360.4(TH):c.393C>T (p.Phe131=)
|
rs1239693053
|
0.00001
|
|
NM_000360.4(TH):c.474C>T (p.Pro158=)
|
rs531554933
|
0.00001
|
|
NM_000360.4(TH):c.477G>A (p.Ala159=)
|
rs1217513263
|
0.00001
|
|
NM_000360.4(TH):c.576+10G>A
|
rs775488025
|
0.00001
|
|
NM_000360.4(TH):c.5C>T (p.Pro2Leu)
|
rs139474171
|
0.00001
|
|
NM_000360.4(TH):c.648C>T (p.Gly216=)
|
rs774810612
|
0.00001
|
|
NM_000360.4(TH):c.675C>T (p.Thr225=)
|
rs1437906953
|
0.00001
|
|
NM_000360.4(TH):c.769T>C (p.Leu257=)
|
rs138787428
|
0.00001
|
|
NM_000360.4(TH):c.841+12C>T
|
rs368489295
|
0.00001
|
|
NM_000360.4(TH):c.977+9G>C
|
rs752199740
|
0.00001
|
|
NM_000368.5(TSC1):c.1078A>C (p.Thr360Pro)
|
rs201738258
|
0.00001
|
|
NM_000368.5(TSC1):c.1099C>G (p.Pro367Ala)
|
rs1412914051
|
0.00001
|
|
NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg)
|
rs1060503218
|
0.00001
|
|
NM_000368.5(TSC1):c.1562C>T (p.Ser521Leu)
|
rs759379027
|
0.00001
|
|
NM_000368.5(TSC1):c.1571C>T (p.Ser524Phe)
|
rs1276296733
|
0.00001
|
|
NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr)
|
rs765149885
|
0.00001
|
|
NM_000368.5(TSC1):c.168G>A (p.Pro56=)
|
rs781483110
|
0.00001
|
|
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile)
|
rs886063623
|
0.00001
|
|
NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile)
|
rs754401816
|
0.00001
|
|
NM_000368.5(TSC1):c.1882T>C (p.Leu628=)
|
rs375534013
|
0.00001
|
|
NM_000368.5(TSC1):c.1927A>G (p.Thr643Ala)
|
rs1485955306
|
0.00001
|
|
NM_000368.5(TSC1):c.2033A>T (p.His678Leu)
|
rs745413532
|
0.00001
|
|
NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys)
|
rs749111647
|
0.00001
|
|
NM_000368.5(TSC1):c.2434A>G (p.Ile812Val)
|
rs751128287
|
0.00001
|
|
NM_000368.5(TSC1):c.2556G>C (p.Leu852=)
|
rs770381040
|
0.00001
|
|
NM_000368.5(TSC1):c.2614G>C (p.Asp872His)
|
rs746607455
|
0.00001
|
|
NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln)
|
rs780115763
|
0.00001
|
|
NM_000368.5(TSC1):c.287T>C (p.Val96Ala)
|
rs370243092
|
0.00001
|
|
NM_000368.5(TSC1):c.2893T>A (p.Leu965Ile)
|
rs1060503217
|
0.00001
|
|
NM_000368.5(TSC1):c.28C>T (p.Leu10Phe)
|
rs1399717425
|
0.00001
|
|
NM_000368.5(TSC1):c.2994C>T (p.Asp998=)
|
rs923543734
|
0.00001
|
|
NM_000368.5(TSC1):c.3016G>C (p.Gly1006Arg)
|
rs1242948205
|
0.00001
|
|
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser)
|
rs1263094349
|
0.00001
|
|
NM_000368.5(TSC1):c.3350T>C (p.Leu1117Pro)
|
rs762641110
|
0.00001
|
|
NM_000368.5(TSC1):c.3433C>G (p.Pro1145Ala)
|
rs773541137
|
0.00001
|
|
NM_000368.5(TSC1):c.3434C>T (p.Pro1145Leu)
|
rs767904247
|
0.00001
|
|
NM_000368.5(TSC1):c.3486A>T (p.Glu1162Asp)
|
rs749746550
|
0.00001
|
|
NM_000368.5(TSC1):c.38T>C (p.Met13Thr)
|
rs1041071543
|
0.00001
|
|
NM_000368.5(TSC1):c.598G>A (p.Val200Ile)
|
rs118203410
|
0.00001
|
|
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp)
|
rs749030456
|
0.00001
|
|
NM_000368.5(TSC1):c.670A>T (p.Met224Leu)
|
rs535397245
|
0.00001
|
|
NM_000368.5(TSC1):c.738-10C>A
|
rs768158324
|
0.00001
|
|
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu)
|
rs878853968
|
0.00001
|
|
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu)
|
rs148756522
|
0.00001
|
|
NM_000368.5(TSC1):c.826T>C (p.Ser276Pro)
|
rs774009225
|
0.00001
|
|
NM_000369.5(TSHR):c.692+3G>A
|
rs552128204
|
0.00001
|
|
NM_000370.3(TTPA):c.6A>T (p.Ala2=)
|
rs1805748956
|
0.00001
|
|
NM_000381.4(MID1):c.567C>T (p.Thr189=)
|
rs1555905154
|
0.00001
|
|
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln)
|
rs752432041
|
0.00001
|
|
NM_000383.4(AIRE):c.1161C>T (p.Gly387=)
|
rs372895437
|
0.00001
|
|
NM_000383.4(AIRE):c.1338T>C (p.Cys446=)
|
rs979048802
|
0.00001
|
|
NM_000383.4(AIRE):c.534G>A (p.Gly178=)
|
rs1160671214
|
0.00001
|
|
NM_000383.4(AIRE):c.840C>T (p.Pro280=)
|
rs772423300
|
0.00001
|
|
NM_000383.4(AIRE):c.843C>T (p.Ala281=)
|
rs769454980
|
0.00001
|
|
NM_000383.4(AIRE):c.90C>T (p.His30=)
|
rs754316070
|
0.00001
|
|
NM_000384.3(APOB):c.10025C>T (p.Ser3342Phe)
|
rs267599180
|
0.00001
|
|
NM_000384.3(APOB):c.1077T>G (p.Ser359Arg)
|
rs752605091
|
0.00001
|
|
NM_000384.3(APOB):c.11078C>A (p.Thr3693Asn)
|
rs776068398
|
0.00001
|
|
NM_000384.3(APOB):c.12122C>G (p.Thr4041Ser)
|
rs776875782
|
0.00001
|
|
NM_000384.3(APOB):c.12635C>G (p.Thr4212Ser)
|
rs201208445
|
0.00001
|
|
NM_000384.3(APOB):c.12889C>T (p.Arg4297Cys)
|
rs761260344
|
0.00001
|
|
NM_000384.3(APOB):c.12977T>A (p.Ile4326Asn)
|
rs763668912
|
0.00001
|
|
NM_000384.3(APOB):c.1331C>T (p.Ala444Val)
|
rs769425660
|
0.00001
|
|
NM_000384.3(APOB):c.1904G>A (p.Arg635Gln)
|
rs202001155
|
0.00001
|
|
NM_000384.3(APOB):c.2335A>G (p.Ile779Val)
|
rs763559077
|
0.00001
|
|
NM_000384.3(APOB):c.2676G>A (p.Pro892=)
|
rs759072451
|
0.00001
|
|
NM_000384.3(APOB):c.2849C>T (p.Thr950Met)
|
rs187506285
|
0.00001
|
|
NM_000384.3(APOB):c.2864C>T (p.Pro955Leu)
|
rs763052786
|
0.00001
|
|
NM_000384.3(APOB):c.3052G>A (p.Ala1018Thr)
|
rs149357946
|
0.00001
|
|
NM_000384.3(APOB):c.3979G>A (p.Gly1327Arg)
|
rs760203474
|
0.00001
|
|
NM_000384.3(APOB):c.4156C>T (p.Arg1386Trp)
|
rs201270852
|
0.00001
|
|
NM_000384.3(APOB):c.4366G>A (p.Asp1456Asn)
|
rs147759262
|
0.00001
|
|
NM_000384.3(APOB):c.460C>G (p.Leu154Val)
|
rs914357651
|
0.00001
|
|
NM_000384.3(APOB):c.5617G>A (p.Ala1873Thr)
|
rs750451480
|
0.00001
|
|
NM_000384.3(APOB):c.6092G>C (p.Ser2031Thr)
|
rs776946940
|
0.00001
|
|
NM_000384.3(APOB):c.6764A>C (p.Lys2255Thr)
|
rs1249838546
|
0.00001
|
|
NM_000384.3(APOB):c.7603T>C (p.Tyr2535His)
|
rs146593015
|
0.00001
|
|
NM_000384.3(APOB):c.7979C>T (p.Ser2660Phe)
|
rs1408828737
|
0.00001
|
|
NM_000384.3(APOB):c.9633C>A (p.Asn3211Lys)
|
rs748318755
|
0.00001
|
|
NM_000384.3(APOB):c.9692A>G (p.Asp3231Gly)
|
rs778780703
|
0.00001
|
|
NM_000391.4(TPP1):c.1076-17C>T
|
rs1258440716
|
0.00001
|
|
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe)
|
rs748345018
|
0.00001
|
|
NM_000391.4(TPP1):c.1671G>A (p.Leu557=)
|
rs777267276
|
0.00001
|
|
NM_000392.5(ABCC2):c.2095-7C>T
|
rs774902843
|
0.00001
|
|
NM_000392.5(ABCC2):c.330A>G (p.Thr110=)
|
rs750755532
|
0.00001
|
|
NM_000392.5(ABCC2):c.3873G>A (p.Pro1291=)
|
rs765304225
|
0.00001
|
|
NM_000392.5(ABCC2):c.4398G>A (p.Ala1466=)
|
rs780515921
|
0.00001
|
|
NM_000392.5(ABCC2):c.855T>C (p.Asp285=)
|
rs769700101
|
0.00001
|
|
NM_000396.4(CTSK):c.8G>A (p.Gly3Glu)
|
rs202055627
|
0.00001
|
|
NM_000417.3(IL2RA):c.252C>T (p.Ser84=)
|
rs1034684102
|
0.00001
|
|
NM_000419.5(ITGA2B):c.945+9C>A
|
rs776521459
|
0.00001
|
|
NM_000423.3(KRT2):c.1630C>T (p.Arg544Ter)
|
rs571471637
|
0.00001
|
|
NM_000426.4(LAMA2):c.4640C>T (p.Thr1547Met)
|
rs778106503
|
0.00001
|
|
NM_000426.4(LAMA2):c.7898+12A>G
|
rs572960610
|
0.00001
|
|
NM_000430.4(PAFAH1B1):c.1130A>G (p.Asn377Ser)
|
rs1167470350
|
0.00001
|
|
NM_000431.4(MVK):c.1116C>T (p.Ile372=)
|
rs368066027
|
0.00001
|
|
NM_000431.4(MVK):c.423G>A (p.Ala141=)
|
rs756068705
|
0.00001
|
|
NM_000431.4(MVK):c.483C>T (p.Cys161=)
|
rs777886684
|
0.00001
|
|
NM_000432.4(MYL2):c.275-12G>A
|
rs750937792
|
0.00001
|
|
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr)
|
rs754815179
|
0.00001
|
|
NM_000435.3(NOTCH3):c.329G>A (p.Arg110His)
|
rs769955930
|
0.00001
|
|
NM_000436.4(OXCT1):c.956-15A>G
|
rs886060636
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1344G>A (p.Ser448=)
|
rs768687579
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1708-14A>G
|
rs1453109539
|
0.00001
|
|
NM_000441.2(SLC26A4):c.406A>G (p.Ile136Val)
|
rs759268252
|
0.00001
|
|
NM_000441.2(SLC26A4):c.921G>A (p.Thr307=)
|
rs765644650
|
0.00001
|
|
NM_000443.4(ABCB4):c.1119+8A>C
|
rs1471180323
|
0.00001
|
|
NM_000443.4(ABCB4):c.1233C>A (p.Ile411=)
|
rs916276498
|
0.00001
|
|
NM_000443.4(ABCB4):c.1723C>T (p.Leu575=)
|
rs748044865
|
0.00001
|
|
NM_000443.4(ABCB4):c.174G>A (p.Ser58=)
|
rs772771936
|
0.00001
|
|
NM_000443.4(ABCB4):c.240G>A (p.Glu80=)
|
rs8187787
|
0.00001
|
|
NM_000443.4(ABCB4):c.2730C>T (p.Thr910=)
|
rs978222245
|
0.00001
|
|
NM_000443.4(ABCB4):c.3033T>C (p.Phe1011=)
|
rs1297237099
|
0.00001
|
|
NM_000443.4(ABCB4):c.3258C>T (p.Tyr1086=)
|
rs1435564748
|
0.00001
|
|
NM_000443.4(ABCB4):c.3633+9G>A
|
rs1554396917
|
0.00001
|
|
NM_000452.3(SLC10A2):c.45T>C (p.Ser15=)
|
rs374581163
|
0.00001
|
|
NM_000452.3(SLC10A2):c.753C>G (p.Pro251=)
|
rs1172213655
|
0.00001
|
|
NM_000455.5(STK11):c.1036G>A (p.Gly346Ser)
|
rs375431906
|
0.00001
|
|
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)
|
rs369744528
|
0.00001
|
|
NM_000455.5(STK11):c.1139A>G (p.Asn380Ser)
|
rs1247102370
|
0.00001
|
|
NM_000455.5(STK11):c.1145A>G (p.Gln382Arg)
|
rs985937027
|
0.00001
|
|
NM_000455.5(STK11):c.1147C>T (p.Arg383Cys)
|
rs535449626
|
0.00001
|
|
NM_000455.5(STK11):c.1150C>T (p.Arg384Trp)
|
rs752015385
|
0.00001
|
|
NM_000455.5(STK11):c.1174A>G (p.Met392Val)
|
rs565993396
|
0.00001
|
|
NM_000455.5(STK11):c.1182C>T (p.Gly394=)
|
rs376679847
|
0.00001
|
|
NM_000455.5(STK11):c.1189G>T (p.Ala397Ser)
|
rs587780008
|
0.00001
|
|
NM_000455.5(STK11):c.1190C>T (p.Ala397Val)
|
rs558040549
|
0.00001
|
|
NM_000455.5(STK11):c.1217C>T (p.Ala406Val)
|
rs748202003
|
0.00001
|
|
NM_000455.5(STK11):c.1231C>G (p.Pro411Ala)
|
rs772527201
|
0.00001
|
|
NM_000455.5(STK11):c.1245C>T (p.Arg415=)
|
rs878853985
|
0.00001
|
|
NM_000455.5(STK11):c.1247A>G (p.Lys416Arg)
|
rs1446554442
|
0.00001
|
|
NM_000455.5(STK11):c.1251C>T (p.Ala417=)
|
rs1060503786
|
0.00001
|
|
NM_000455.5(STK11):c.1252T>A (p.Cys418Ser)
|
rs730881991
|
0.00001
|
|
NM_000455.5(STK11):c.317G>A (p.Arg106Gln)
|
rs375622587
|
0.00001
|
|
NM_000455.5(STK11):c.447A>G (p.Pro149=)
|
rs587780718
|
0.00001
|
|
NM_000455.5(STK11):c.45C>T (p.Gly15=)
|
rs786201234
|
0.00001
|
|
NM_000455.5(STK11):c.464+4C>T
|
rs373167735
|
0.00001
|
|
NM_000455.5(STK11):c.465-10C>G
|
rs1060503780
|
0.00001
|
|
NM_000455.5(STK11):c.465-8G>A
|
rs878853990
|
0.00001
|
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
0.00001
|
|
NM_000455.5(STK11):c.579C>T (p.Ser193=)
|
rs730881961
|
0.00001
|
|
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)
|
rs730881982
|
0.00001
|
|
NM_000455.5(STK11):c.71C>T (p.Thr24Met)
|
rs770503805
|
0.00001
|
|
NM_000455.5(STK11):c.750G>A (p.Thr250=)
|
rs748112446
|
0.00001
|
|
NM_000455.5(STK11):c.846C>G (p.Leu282=)
|
rs777872290
|
0.00001
|
|
NM_000455.5(STK11):c.921-8G>A
|
rs863224362
|
0.00001
|
|
NM_000455.5(STK11):c.957A>G (p.Pro319=)
|
rs755126393
|
0.00001
|
|
NM_000455.5(STK11):c.976C>A (p.Pro326Thr)
|
rs771632414
|
0.00001
|
|
NM_000458.4(HNF1B):c.66C>A (p.Thr22=)
|
rs906719754
|
0.00001
|
|
NM_000463.3(UGT1A1):c.1161C>T (p.Pro387=)
|
rs763217521
|
0.00001
|
|
NM_000465.4(BARD1):c.123C>A (p.Leu41=)
|
rs764410072
|
0.00001
|
|
NM_000465.4(BARD1):c.735A>G (p.Gln245=)
|
rs763378916
|
0.00001
|
|
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser)
|
rs560969584
|
0.00001
|
|
NM_000466.3(PEX1):c.1671-13A>G
|
rs757960956
|
0.00001
|
|
NM_000466.3(PEX1):c.1767A>T (p.Gly589=)
|
rs1364124177
|
0.00001
|
|
NM_000466.3(PEX1):c.2927-8T>C
|
rs778618662
|
0.00001
|
|
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)
|
rs1009877821
|
0.00001
|
|
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=)
|
rs768417678
|
0.00001
|
|
NM_000466.3(PEX1):c.3543A>G (p.Ser1181=)
|
rs374673391
|
0.00001
|
|
NM_000466.3(PEX1):c.3642C>T (p.Asp1214=)
|
rs777384403
|
0.00001
|
|
NM_000466.3(PEX1):c.693C>T (p.Asn231=)
|
rs1463386429
|
0.00001
|
|
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser)
|
rs780119112
|
0.00001
|
|
NM_000466.3(PEX1):c.831G>A (p.Gln277=)
|
rs1210178752
|
0.00001
|
|
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr)
|
rs761762294
|
0.00001
|
|
NM_000481.4(AMT):c.153G>A (p.Ala51=)
|
rs768510463
|
0.00001
|
|
NM_000481.4(AMT):c.471+9C>T
|
rs760770619
|
0.00001
|
|
NM_000481.4(AMT):c.60G>A (p.Pro20=)
|
rs374750709
|
0.00001
|
|
NM_000481.4(AMT):c.750C>T (p.Asn250=)
|
rs141324034
|
0.00001
|
|
NM_000481.4(AMT):c.84C>T (p.Cys28=)
|
rs763223038
|
0.00001
|
|
NM_000484.4(APP):c.1224+12T>C
|
rs200725014
|
0.00001
|
|
NM_000484.4(APP):c.618G>A (p.Ser206=)
|
rs201022619
|
0.00001
|
|
NM_000487.6(ARSA):c.1211-15T>C
|
rs374150980
|
0.00001
|
|
NM_000487.6(ARSA):c.279C>T (p.Val93=)
|
rs756760904
|
0.00001
|
|
NM_000487.6(ARSA):c.663C>T (p.Phe221=)
|
rs754484249
|
0.00001
|
|
NM_000487.6(ARSA):c.891C>T (p.Ser297=)
|
rs770536697
|
0.00001
|
|
NM_000487.6(ARSA):c.979+8C>T
|
rs746862304
|
0.00001
|
|
NM_000489.6(ATRX):c.1346C>G (p.Pro449Arg)
|
rs782163488
|
0.00001
|
|
NM_000489.6(ATRX):c.1366G>A (p.Asp456Asn)
|
rs782313786
|
0.00001
|
|
NM_000489.6(ATRX):c.1526C>G (p.Thr509Ser)
|
rs1557141410
|
0.00001
|
|
NM_000489.6(ATRX):c.16A>G (p.Met6Val)
|
rs782080475
|
0.00001
|
|
NM_000489.6(ATRX):c.1709A>G (p.Asn570Ser)
|
rs782517450
|
0.00001
|
|
NM_000489.6(ATRX):c.1960C>G (p.Arg654Gly)
|
rs1557140492
|
0.00001
|
|
NM_000489.6(ATRX):c.2083G>C (p.Val695Leu)
|
rs571313578
|
0.00001
|
|
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr)
|
rs782530243
|
0.00001
|
|
NM_000489.6(ATRX):c.2472G>C (p.Glu824Asp)
|
rs1557139572
|
0.00001
|
|
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)
|
rs797044792
|
0.00001
|
|
NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp)
|
rs782283059
|
0.00001
|
|
NM_000489.6(ATRX):c.278A>T (p.Asp93Val)
|
rs1064796774
|
0.00001
|
|
NM_000489.6(ATRX):c.3314A>G (p.Gln1105Arg)
|
rs1569538747
|
0.00001
|
|
NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn)
|
rs782696086
|
0.00001
|
|
NM_000489.6(ATRX):c.3623T>C (p.Ile1208Thr)
|
rs374291079
|
0.00001
|
|
NM_000489.6(ATRX):c.3850C>T (p.Leu1284Phe)
|
rs782619383
|
0.00001
|
|
NM_000489.6(ATRX):c.4072A>G (p.Thr1358Ala)
|
rs781912326
|
0.00001
|
|
NM_000489.6(ATRX):c.4201C>T (p.Arg1401Trp)
|
rs1557119999
|
0.00001
|
|
NM_000489.6(ATRX):c.5559C>T (p.His1853=)
|
rs1557096973
|
0.00001
|
|
NM_000489.6(ATRX):c.5935G>C (p.Val1979Leu)
|
rs782773652
|
0.00001
|
|
NM_000489.6(ATRX):c.631C>T (p.Arg211Cys)
|
rs782241890
|
0.00001
|
|
NM_000489.6(ATRX):c.7379A>G (p.Tyr2460Cys)
|
rs782169215
|
0.00001
|
|
NM_000489.6(ATRX):c.847G>A (p.Val283Ile)
|
rs1057522580
|
0.00001
|
|
NM_000492.4(CFTR):c.1209+7A>T
|
rs767301152
|
0.00001
|
|
NM_000492.4(CFTR):c.1585-7G>A
|
rs1367201083
|
0.00001
|
|
NM_000492.4(CFTR):c.1587C>T (p.Asp529=)
|
rs772895745
|
0.00001
|
|
NM_000492.4(CFTR):c.1830A>T (p.Leu610Phe)
|
rs1048183757
|
0.00001
|
|
NM_000492.4(CFTR):c.2505T>C (p.Asp835=)
|
rs761043298
|
0.00001
|
|
NM_000492.4(CFTR):c.2526A>G (p.Ala842=)
|
rs758128209
|
0.00001
|
|
NM_000492.4(CFTR):c.3139+8A>G
|
rs193922517
|
0.00001
|
|
NM_000492.4(CFTR):c.3368-20C>T
|
rs761144879
|
0.00001
|
|
NM_000492.4(CFTR):c.3874-14C>G
|
rs184271150
|
0.00001
|
|
NM_000492.4(CFTR):c.4143C>T (p.Tyr1381=)
|
rs397508683
|
0.00001
|
|
NM_000492.4(CFTR):c.4367G>A (p.Ser1456Asn)
|
rs983279303
|
0.00001
|
|
NM_000492.4(CFTR):c.579+34A>G
|
rs148209839
|
0.00001
|
|
NM_000492.4(CFTR):c.744-6T>G
|
rs878854022
|
0.00001
|
|
NM_000492.4(CFTR):c.869+25A>G
|
rs1554380840
|
0.00001
|
|
NM_000493.4(COL10A1):c.1392G>A (p.Gly464=)
|
rs886042553
|
0.00001
|
|
NM_000497.4(CYP11B1):c.595+8C>A
|
rs1322560606
|
0.00001
|
|
NM_000498.3(CYP11B2):c.1341G>A (p.Met447Ile)
|
rs544454389
|
0.00001
|
|
NM_000498.3(CYP11B2):c.159G>A (p.Leu53=)
|
rs768928152
|
0.00001
|
|
NM_000498.3(CYP11B2):c.30C>T (p.Cys10=)
|
rs752745892
|
0.00001
|
|
NM_000498.3(CYP11B2):c.84C>T (p.Ala28=)
|
rs745626507
|
0.00001
|
|
NM_000501.4(ELN):c.1281C>T (p.Pro427=)
|
rs376496267
|
0.00001
|
|
NM_000501.4(ELN):c.163+13A>G
|
rs782388951
|
0.00001
|
|
NM_000512.5(GALNS):c.1003-10T>C
|
rs753249472
|
0.00001
|
|
NM_000512.5(GALNS):c.1008C>T (p.Ser336=)
|
rs886052456
|
0.00001
|
|
NM_000512.5(GALNS):c.993T>C (p.Thr331=)
|
rs762154863
|
0.00001
|
|
NM_000518.5(HBB):c.201A>G (p.Lys67=)
|
rs36092904
|
0.00001
|
|
NM_000518.5(HBB):c.274C>T (p.Leu92=)
|
rs769583496
|
0.00001
|
|
NM_000518.5(HBB):c.316-102C>A
|
rs1468940510
|
0.00001
|
|
NM_000518.5(HBB):c.316-107G>C
|
rs930802593
|
0.00001
|
|
NM_000518.5(HBB):c.316-114C>A
|
rs1003790835
|
0.00001
|
|
NM_000518.5(HBB):c.316-124A>T
|
rs1184042209
|
0.00001
|
|
NM_000518.5(HBB):c.316-130T>C
|
rs956857115
|
0.00001
|
|
NM_000518.5(HBB):c.316-138G>A
|
rs1444028845
|
0.00001
|
|
NM_000518.5(HBB):c.316-145G>A
|
rs1005042281
|
0.00001
|
|
NM_000518.5(HBB):c.316-156T>C
|
rs1164871363
|
0.00001
|
|
NM_000518.5(HBB):c.316-99T>G
|
rs1232651664
|
0.00001
|
|
NM_000518.5(HBB):c.333G>A (p.Leu111=)
|
rs1215164743
|
0.00001
|
|
NM_000518.5(HBB):c.45G>A (p.Leu15=)
|
rs762782573
|
0.00001
|
|
NM_000518.5(HBB):c.60C>T (p.Asn20=)
|
rs63750840
|
0.00001
|
|
NM_000518.5(HBB):c.93-15T>C
|
rs35456885
|
0.00001
|
|
NM_000518.5(HBB):c.93-24A>G
|
rs773687221
|
0.00001
|
|
NM_000521.4(HEXB):c.156G>A (p.Pro52=)
|
rs758965664
|
0.00001
|
|
NM_000525.4(KCNJ11):c.969C>T (p.Asp323=)
|
rs1272384074
|
0.00001
|
|
NM_000527.5(LDLR):c.1420C>G (p.Gln474Glu)
|
rs201967266
|
0.00001
|
|
NM_000527.5(LDLR):c.1587-11C>T
|
rs201957233
|
0.00001
|
|
NM_000527.5(LDLR):c.2097G>A (p.Pro699=)
|
rs370835628
|
0.00001
|
|
NM_000527.5(LDLR):c.2391G>C (p.Val797=)
|
rs752846235
|
0.00001
|
|
NM_000527.5(LDLR):c.2529C>T (p.Asp843=)
|
rs374635484
|
0.00001
|
|
NM_000527.5(LDLR):c.2548-12A>G
|
rs771336748
|
0.00001
|
|
NM_000527.5(LDLR):c.48C>A (p.Leu16=)
|
rs565675103
|
0.00001
|
|
NM_000527.5(LDLR):c.543G>A (p.Pro181=)
|
rs766577671
|
0.00001
|
|
NM_000527.5(LDLR):c.68-9C>G
|
rs1284807471
|
0.00001
|
|
NM_000527.5(LDLR):c.981C>T (p.His327=)
|
rs1060499933
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1026+8C>T
|
rs199908179
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=)
|
rs747081586
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His)
|
rs775247526
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2437-5C>G
|
rs200695002
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=)
|
rs545541738
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=)
|
rs775212002
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=)
|
rs1318861970
|
0.00001
|
|
NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=)
|
rs2023694204
|
0.00001
|
|
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=)
|
rs200872797
|
0.00001
|
|
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=)
|
rs1407475487
|
0.00001
|
|
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=)
|
rs139218045
|
0.00001
|
|
NM_000531.6(OTC):c.68G>A (p.Arg23Gln)
|
rs148660170
|
0.00001
|
|
NM_000531.6(OTC):c.896C>T (p.Thr299Ile)
|
rs756772340
|
0.00001
|
|
NM_000532.5(PCCB):c.1199-8A>G
|
rs886058019
|
0.00001
|
|
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)
|
rs757534748
|
0.00001
|
|
NM_000532.5(PCCB):c.654+14G>T
|
rs1457950469
|
0.00001
|
|
NM_000538.4(RFXAP):c.15T>C (p.Gly5=)
|
rs772887500
|
0.00001
|
|
NM_000540.3(RYR1):c.10018+7C>T
|
rs797045928
|
0.00001
|
|
NM_000540.3(RYR1):c.10154C>T (p.Ala3385Val)
|
rs772566556
|
0.00001
|
|
NM_000540.3(RYR1):c.10170C>T (p.Gly3390=)
|
rs369239179
|
0.00001
|
|
NM_000540.3(RYR1):c.10398C>T (p.Asn3466=)
|
rs1335486327
|
0.00001
|
|
NM_000540.3(RYR1):c.10441-8T>C
|
rs755330618
|
0.00001
|
|
NM_000540.3(RYR1):c.11706A>G (p.Leu3902=)
|
rs776123178
|
0.00001
|
|
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)
|
rs794727946
|
0.00001
|
|
NM_000540.3(RYR1):c.1218C>T (p.Thr406=)
|
rs3745846
|
0.00001
|
|
NM_000540.3(RYR1):c.12251G>A (p.Arg4084His)
|
rs779380542
|
0.00001
|
|
NM_000540.3(RYR1):c.12951G>A (p.Val4317=)
|
rs957481378
|
0.00001
|
|
NM_000540.3(RYR1):c.13122G>A (p.Val4374=)
|
rs797045930
|
0.00001
|
|
NM_000540.3(RYR1):c.13747-4T>G
|
rs1287127447
|
0.00001
|
|
NM_000540.3(RYR1):c.14129+10C>A
|
rs546280470
|
0.00001
|
|
NM_000540.3(RYR1):c.14706C>T (p.Ile4902=)
|
rs886054411
|
0.00001
|
|
NM_000540.3(RYR1):c.14869-5C>G
|
rs1199304403
|
0.00001
|
|
NM_000540.3(RYR1):c.14940G>A (p.Thr4980=)
|
rs765570755
|
0.00001
|
|
NM_000540.3(RYR1):c.1792-8A>T
|
rs746765869
|
0.00001
|
|
NM_000540.3(RYR1):c.1909A>G (p.Ile637Val)
|
rs567084532
|
0.00001
|
|
NM_000540.3(RYR1):c.199G>A (p.Val67Ile)
|
rs761182247
|
0.00001
|
|
NM_000540.3(RYR1):c.2037C>A (p.Thr679=)
|
rs571569206
|
0.00001
|
|
NM_000540.3(RYR1):c.2361-4C>G
|
rs753918895
|
0.00001
|
|
NM_000540.3(RYR1):c.255G>T (p.Val85=)
|
rs532101469
|
0.00001
|
|
NM_000540.3(RYR1):c.2646G>A (p.Ala882=)
|
rs375163703
|
0.00001
|
|
NM_000540.3(RYR1):c.2682+13C>T
|
rs745844424
|
0.00001
|
|
NM_000540.3(RYR1):c.2823G>A (p.Ala941=)
|
rs750305530
|
0.00001
|
|
NM_000540.3(RYR1):c.3431C>T (p.Pro1144Leu)
|
rs201940876
|
0.00001
|
|
NM_000540.3(RYR1):c.3981C>G (p.Pro1327=)
|
rs763082630
|
0.00001
|
|
NM_000540.3(RYR1):c.4056G>A (p.Ala1352=)
|
rs915321867
|
0.00001
|
|
NM_000540.3(RYR1):c.408G>A (p.Leu136=)
|
rs756918282
|
0.00001
|
|
NM_000540.3(RYR1):c.4230C>T (p.Leu1410=)
|
rs750872878
|
0.00001
|
|
NM_000540.3(RYR1):c.4488C>T (p.Gly1496=)
|
rs886038331
|
0.00001
|
|
NM_000540.3(RYR1):c.4533G>A (p.Thr1511=)
|
rs147901772
|
0.00001
|
|
NM_000540.3(RYR1):c.4650C>T (p.Ala1550=)
|
rs200600174
|
0.00001
|
|
NM_000540.3(RYR1):c.4782G>A (p.Leu1594=)
|
rs1064797239
|
0.00001
|
|
NM_000540.3(RYR1):c.5019C>T (p.Cys1673=)
|
rs543026464
|
0.00001
|
|
NM_000540.3(RYR1):c.5548-9G>T
|
rs776320867
|
0.00001
|
|
NM_000540.3(RYR1):c.6016-5C>G
|
rs369996114
|
0.00001
|
|
NM_000540.3(RYR1):c.624C>T (p.Cys208=)
|
rs746914281
|
0.00001
|
|
NM_000540.3(RYR1):c.6549-8G>A
|
rs756593088
|
0.00001
|
|
NM_000540.3(RYR1):c.6797-7C>T
|
rs994688451
|
0.00001
|
|
NM_000540.3(RYR1):c.7029C>T (p.Gly2343=)
|
rs138617219
|
0.00001
|
|
NM_000540.3(RYR1):c.7422G>A (p.Leu2474=)
|
rs758872814
|
0.00001
|
|
NM_000540.3(RYR1):c.7446T>C (p.Asp2482=)
|
rs374058542
|
0.00001
|
|
NM_000540.3(RYR1):c.7608G>A (p.Leu2536=)
|
rs201686887
|
0.00001
|
|
NM_000540.3(RYR1):c.7842C>T (p.Ile2614=)
|
rs777420696
|
0.00001
|
|
NM_000540.3(RYR1):c.7857G>A (p.Leu2619=)
|
rs547048377
|
0.00001
|
|
NM_000540.3(RYR1):c.7896C>A (p.Ile2632=)
|
rs201090618
|
0.00001
|
|
NM_000540.3(RYR1):c.8082G>A (p.Glu2694=)
|
rs745619519
|
0.00001
|
|
NM_000540.3(RYR1):c.9001-8G>A
|
rs768611849
|
0.00001
|
|
NM_000540.3(RYR1):c.9096T>A (p.Ser3032=)
|
rs144067910
|
0.00001
|
|
NM_000540.3(RYR1):c.9122+7C>T
|
rs199667629
|
0.00001
|
|
NM_000540.3(RYR1):c.9472+9G>A
|
rs1392237616
|
0.00001
|
|
NM_000540.3(RYR1):c.9685+8G>T
|
rs752615788
|
0.00001
|
|
NM_000540.3(RYR1):c.9732G>A (p.Pro3244=)
|
rs764290955
|
0.00001
|
|
NM_000540.3(RYR1):c.975C>T (p.Ala325=)
|
rs751251863
|
0.00001
|
|
NM_000545.8(HNF1A):c.713+14C>T
|
rs193922601
|
0.00001
|
|
NM_000545.8(HNF1A):c.780G>A (p.Thr260=)
|
rs749633685
|
0.00001
|
|
NM_000546.6(TP53):c.74+9A>C
|
rs1057517593
|
0.00001
|
|
NM_000546.6(TP53):c.96+15T>C
|
rs200053580
|
0.00001
|
|
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala)
|
rs757113497
|
0.00001
|
|
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln)
|
rs878854077
|
0.00001
|
|
NM_000548.5(TSC2):c.1514G>A (p.Arg505Gln)
|
rs376285784
|
0.00001
|
|
NM_000548.5(TSC2):c.152A>C (p.Glu51Ala)
|
rs772617064
|
0.00001
|
|
NM_000548.5(TSC2):c.1678G>A (p.Val560Met)
|
rs141631268
|
0.00001
|
|
NM_000548.5(TSC2):c.1754G>A (p.Arg585His)
|
rs397515063
|
0.00001
|
|
NM_000548.5(TSC2):c.2097+5G>C
|
rs977777731
|
0.00001
|
|
NM_000548.5(TSC2):c.2220+5C>T
|
rs1164941572
|
0.00001
|
|
NM_000548.5(TSC2):c.2330A>G (p.His777Arg)
|
rs759528809
|
0.00001
|
|
NM_000548.5(TSC2):c.2395C>T (p.Arg799Cys)
|
rs1366556255
|
0.00001
|
|
NM_000548.5(TSC2):c.2553C>T (p.Ala851=)
|
rs745687916
|
0.00001
|
|
NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu)
|
rs370415754
|
0.00001
|
|
NM_000548.5(TSC2):c.3088A>G (p.Met1030Val)
|
rs754276150
|
0.00001
|
|
NM_000548.5(TSC2):c.3284+6T>G
|
rs375837026
|
0.00001
|
|
NM_000548.5(TSC2):c.3815-1G>A
|
rs2090256621
|
0.00001
|
|
NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn)
|
rs375883030
|
0.00001
|
|
NM_000548.5(TSC2):c.5011G>A (p.Val1671Met)
|
rs775395648
|
0.00001
|
|
NM_000548.5(TSC2):c.5029G>A (p.Asp1677Asn)
|
rs1163037065
|
0.00001
|
|
NM_000548.5(TSC2):c.5069-5C>T
|
rs762149472
|
0.00001
|
|
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp)
|
rs374410454
|
0.00001
|
|
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser)
|
rs762104739
|
0.00001
|
|
NM_000548.5(TSC2):c.886G>A (p.Val296Met)
|
rs747237113
|
0.00001
|
|
NM_000548.5(TSC2):c.893T>C (p.Phe298Ser)
|
rs747310967
|
0.00001
|
|
NM_000548.5(TSC2):c.944C>T (p.Ser315Leu)
|
rs202082319
|
0.00001
|
|
NM_000548.5(TSC2):c.947C>A (p.Pro316Gln)
|
rs751490043
|
0.00001
|
|
NM_000553.6(WRN):c.2088+6C>T
|
rs886062888
|
0.00001
|
|
NM_000553.6(WRN):c.219A>G (p.Leu73=)
|
rs566693857
|
0.00001
|
|
NM_000553.6(WRN):c.2985C>T (p.Ala995=)
|
rs150095039
|
0.00001
|
|
NM_000553.6(WRN):c.3162T>C (p.Ala1054=)
|
rs111426441
|
0.00001
|
|
NM_000553.6(WRN):c.3483A>T (p.Val1161=)
|
rs1292940121
|
0.00001
|
|
NM_000553.6(WRN):c.655-20A>G
|
rs1056118121
|
0.00001
|
|
NM_000628.5(IL10RB):c.647-14A>C
|
rs45526732
|
0.00001
|
|
NM_000639.3(FASLG):c.452-12G>A
|
rs759351686
|
0.00001
|
|
NM_000642.3(AGL):c.1284-12A>C
|
rs886044918
|
0.00001
|
|
NM_000642.3(AGL):c.1432G>A (p.Val478Ile)
|
rs527819721
|
0.00001
|
|
NM_000642.3(AGL):c.1650A>G (p.Leu550=)
|
rs778806512
|
0.00001
|
|
NM_000642.3(AGL):c.2002-5T>A
|
rs201718705
|
0.00001
|
|
NM_000642.3(AGL):c.318C>T (p.Tyr106=)
|
rs376885398
|
0.00001
|
|
NM_000642.3(AGL):c.3642C>T (p.Gly1214=)
|
rs1261746082
|
0.00001
|
|
NM_000642.3(AGL):c.3771C>T (p.Gly1257=)
|
rs760738241
|
0.00001
|
|
NM_000642.3(AGL):c.3894G>A (p.Leu1298=)
|
rs769025250
|
0.00001
|
|
NM_000642.3(AGL):c.4341A>G (p.Gln1447=)
|
rs376486225
|
0.00001
|
|
NM_000642.3(AGL):c.4362T>C (p.Pro1454=)
|
rs886044922
|
0.00001
|
|
NM_000642.3(AGL):c.684C>T (p.Ile228=)
|
rs961563586
|
0.00001
|
|
NM_000642.3(AGL):c.958+12A>G
|
rs1227779911
|
0.00001
|
|
NM_000687.4(AHCY):c.219+8C>T
|
rs768480898
|
0.00001
|
|
NM_000687.4(AHCY):c.936C>T (p.Asn312=)
|
rs528770765
|
0.00001
|
|
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=)
|
rs369278165
|
0.00001
|
|
NM_000751.3(CHRND):c.932+9C>T
|
rs367837942
|
0.00001
|
|
NM_000781.3(CYP11A1):c.567G>A (p.Ala189=)
|
rs770022852
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=)
|
rs886656814
|
0.00001
|
|
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly)
|
rs748325824
|
0.00001
|
|
NM_000787.4(DBH):c.921+8C>T
|
rs886063659
|
0.00001
|
|
NM_000824.5(GLRB):c.210G>A (p.Arg70=)
|
rs1440659826
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2011-8C>G
|
rs774971411
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3981G>A (p.Lys1327=)
|
rs201670483
|
0.00001
|
|
NM_000883.4(IMPDH1):c.159C>T (p.Asp53=)
|
rs768265149
|
0.00001
|
|
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=)
|
rs376921497
|
0.00001
|
|
NM_000925.4(PDHB):c.1069T>C (p.Leu357=)
|
rs768436316
|
0.00001
|
|
NM_000925.4(PDHB):c.45C>G (p.Val15=)
|
rs747916943
|
0.00001
|
|
NM_001003800.2(BICD2):c.1864C>T (p.Arg622Trp)
|
rs1445290655
|
0.00001
|
|
NM_001005242.3(PKP2):c.1236G>A (p.Gln412=)
|
rs779749104
|
0.00001
|
|
NM_001005242.3(PKP2):c.837C>T (p.Pro279=)
|
rs572938229
|
0.00001
|
|
NM_001005242.3(PKP2):c.921T>C (p.Ser307=)
|
rs941328238
|
0.00001
|
|
NM_001005361.3(DNM2):c.1782-6C>T
|
rs963604980
|
0.00001
|
|
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val)
|
rs570248730
|
0.00001
|
|
NM_001005373.4(LRSAM1):c.972G>A (p.Leu324=)
|
rs940085400
|
0.00001
|
|
NM_001008216.2(GALE):c.192G>A (p.Glu64=)
|
rs748354696
|
0.00001
|
|
NM_001008216.2(GALE):c.238-6C>T
|
rs751079525
|
0.00001
|
|
NM_001008216.2(GALE):c.648G>A (p.Ala216=)
|
rs144723215
|
0.00001
|
|
NM_001017420.3(ESCO2):c.738A>G (p.Val246=)
|
rs886044291
|
0.00001
|
|
NM_001018113.3(FANCB):c.52T>C (p.Tyr18His)
|
rs996732250
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2004C>G (p.Ser668=)
|
rs138189144
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3285T>C (p.Ser1095=)
|
rs759252565
|
0.00001
|
|
NM_001022.4(RPS19):c.393G>A (p.Leu131=)
|
rs1447794153
|
0.00001
|
|
NM_001025295.3(IFITM5):c.186+5G>A
|
rs1267542305
|
0.00001
|
|
NM_001032382.2(PQBP1):c.510G>A (p.Arg170=)
|
rs782103312
|
0.00001
|
|
NM_001032386.2(SUOX):c.279C>T (p.His93=)
|
rs763253683
|
0.00001
|
|
NM_001032386.2(SUOX):c.507C>T (p.Thr169=)
|
rs765012855
|
0.00001
|
|
NM_001034853.2(RPGR):c.1763A>G (p.Glu588Gly)
|
rs1222240619
|
0.00001
|
|
NM_001034853.2(RPGR):c.2135A>G (p.Gln712Arg)
|
rs749852225
|
0.00001
|
|
NM_001035.3(RYR2):c.10008G>A (p.Glu3336=)
|
rs753175584
|
0.00001
|
|
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=)
|
rs779316628
|
0.00001
|
|
NM_001035.3(RYR2):c.10551C>A (p.Gly3517=)
|
rs768797598
|
0.00001
|
|
NM_001035.3(RYR2):c.11146-6G>A
|
rs886046277
|
0.00001
|
|
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=)
|
rs184625125
|
0.00001
|
|
NM_001035.3(RYR2):c.12333C>T (p.Asn4111=)
|
rs748716535
|
0.00001
|
|
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=)
|
rs3753631
|
0.00001
|
|
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn)
|
rs755585430
|
0.00001
|
|
NM_001035.3(RYR2):c.13410C>T (p.Tyr4470=)
|
rs183933829
|
0.00001
|
|
NM_001035.3(RYR2):c.13482T>C (p.Tyr4494=)
|
rs886046279
|
0.00001
|
|
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=)
|
rs375213838
|
0.00001
|
|
NM_001035.3(RYR2):c.14085A>C (p.Ser4695=)
|
rs758566439
|
0.00001
|
|
NM_001035.3(RYR2):c.1444C>T (p.Leu482=)
|
rs117903753
|
0.00001
|
|
NM_001035.3(RYR2):c.14808+12A>C
|
rs886046281
|
0.00001
|
|
NM_001035.3(RYR2):c.2175T>C (p.Tyr725=)
|
rs758813812
|
0.00001
|
|
NM_001035.3(RYR2):c.2223A>G (p.Val741=)
|
rs117242563
|
0.00001
|
|
NM_001035.3(RYR2):c.2808G>A (p.Ser936=)
|
rs1057521205
|
0.00001
|
|
NM_001035.3(RYR2):c.3067-14G>C
|
rs757471501
|
0.00001
|
|
NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=)
|
rs747358776
|
0.00001
|
|
NM_001035.3(RYR2):c.5763G>A (p.Arg1921=)
|
rs886046270
|
0.00001
|
|
NM_001035.3(RYR2):c.6688+13C>A
|
rs1262322008
|
0.00001
|
|
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=)
|
rs184937795
|
0.00001
|
|
NM_001037.5(SCN1B):c.150C>T (p.Asn50=)
|
rs147073518
|
0.00001
|
|
NM_001040108.2(MLH3):c.1125T>C (p.Asp375=)
|
rs781394261
|
0.00001
|
|
NM_001040108.2(MLH3):c.3384T>C (p.Thr1128=)
|
rs370951929
|
0.00001
|
|
NM_001040436.3(YARS2):c.234T>C (p.Cys78=)
|
rs565102282
|
0.00001
|
|
NM_001040716.2(PC):c.3148-14C>T
|
rs773784306
|
0.00001
|
|
NM_001040716.2(PC):c.78C>A (p.Ser26=)
|
rs1161512784
|
0.00001
|
|
NM_001040716.2(PC):c.927C>T (p.Thr309=)
|
rs373717650
|
0.00001
|
|
NM_001042472.3(ABHD12):c.66C>T (p.Ser22=)
|
rs1261172926
|
0.00001
|
|
NM_001042492.3(NF1):c.1392G>A (p.Pro464=)
|
rs201604273
|
0.00001
|
|
NM_001042492.3(NF1):c.1413A>G (p.Lys471=)
|
rs1309932338
|
0.00001
|
|
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp)
|
rs587782592
|
0.00001
|
|
NM_001042492.3(NF1):c.2251+5A>G
|
rs786201934
|
0.00001
|
|
NM_001042492.3(NF1):c.2409+5G>A
|
rs763688567
|
0.00001
|
|
NM_001042492.3(NF1):c.2410-8G>A
|
rs1060500270
|
0.00001
|
|
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=)
|
rs876659944
|
0.00001
|
|
NM_001042492.3(NF1):c.3315-5C>T
|
rs1266211447
|
0.00001
|
|
NM_001042492.3(NF1):c.3891A>G (p.Leu1297=)
|
rs753036396
|
0.00001
|
|
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr)
|
rs876660908
|
0.00001
|
|
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe)
|
rs775786295
|
0.00001
|
|
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)
|
rs773378630
|
0.00001
|
|
NM_001042492.3(NF1):c.5290G>A (p.Val1764Ile)
|
rs778427434
|
0.00001
|
|
NM_001042492.3(NF1):c.5407A>G (p.Ile1803Val)
|
rs559910904
|
0.00001
|
|
NM_001042492.3(NF1):c.5610-4C>G
|
rs1419030713
|
0.00001
|
|
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln)
|
rs587781670
|
0.00001
|
|
NM_001042492.3(NF1):c.587-3C>T
|
rs375188075
|
0.00001
|
|
NM_001042492.3(NF1):c.6006+4T>C
|
rs754909198
|
0.00001
|
|
NM_001042492.3(NF1):c.6442G>A (p.Val2148Ile)
|
rs770993581
|
0.00001
|
|
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met)
|
rs369803831
|
0.00001
|
|
NM_001042492.3(NF1):c.681T>C (p.Tyr227=)
|
rs745804540
|
0.00001
|
|
NM_001042492.3(NF1):c.6837A>C (p.Leu2279Phe)
|
rs144287929
|
0.00001
|
|
NM_001042492.3(NF1):c.7110C>T (p.His2370=)
|
rs201881479
|
0.00001
|
|
NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile)
|
rs755749772
|
0.00001
|
|
NM_001042492.3(NF1):c.7326A>G (p.Leu2442=)
|
rs753224880
|
0.00001
|
|
NM_001042492.3(NF1):c.7402A>G (p.Met2468Val)
|
rs151211377
|
0.00001
|
|
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser)
|
rs766496842
|
0.00001
|
|
NM_001042492.3(NF1):c.7616-15A>C
|
rs952554990
|
0.00001
|
|
NM_001042492.3(NF1):c.7645T>C (p.Ser2549Pro)
|
rs767458044
|
0.00001
|
|
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys)
|
rs372787215
|
0.00001
|
|
NM_001042492.3(NF1):c.7837C>T (p.Pro2613Ser)
|
rs138839077
|
0.00001
|
|
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser)
|
rs1283946778
|
0.00001
|
|
NM_001042681.2(RERE):c.1372G>A (p.Val458Met)
|
rs1306272176
|
0.00001
|
|
NM_001042681.2(RERE):c.2461T>C (p.Ser821Pro)
|
rs897627996
|
0.00001
|
|
NM_001042681.2(RERE):c.2462C>T (p.Ser821Leu)
|
rs1057518295
|
0.00001
|
|
NM_001042750.2(STAG2):c.3169A>G (p.Met1057Val)
|
rs1481946219
|
0.00001
|
|
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=)
|
rs763452347
|
0.00001
|
|
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)
|
rs755653922
|
0.00001
|
|
NM_001048174.2(MUTYH):c.305-7C>A
|
rs863224698
|
0.00001
|
|
NM_001048174.2(MUTYH):c.421-12T>G
|
rs890418965
|
0.00001
|
|
NM_001048174.2(MUTYH):c.835C>T (p.Arg279Trp)
|
rs759822330
|
0.00001
|
|
NM_001065.4(TNFRSF1A):c.1058-8C>G
|
rs764636915
|
0.00001
|
|
NM_001065.4(TNFRSF1A):c.269C>T (p.Thr90Ile)
|
rs34751757
|
0.00001
|
|
NM_001065.4(TNFRSF1A):c.753G>A (p.Ser251=)
|
rs201358363
|
0.00001
|
|
NM_001077653.2(TBX20):c.891-9C>G
|
rs761878149
|
0.00001
|
|
NM_001080449.3(DNA2):c.27G>A (p.Leu9=)
|
rs1211027535
|
0.00001
|
|
NM_001080517.3(SETD5):c.1260T>G (p.Ala420=)
|
rs931898655
|
0.00001
|
|
NM_001080517.3(SETD5):c.2922C>T (p.Asp974=)
|
rs1049067352
|
0.00001
|
|
NM_001080517.3(SETD5):c.521A>G (p.Lys174Arg)
|
rs375122657
|
0.00001
|
|
NM_001082971.2(DDC):c.564C>T (p.Ser188=)
|
rs371336321
|
0.00001
|
|
NM_001083961.2(WDR62):c.1642+9G>A
|
rs112789274
|
0.00001
|
|
NM_001083961.2(WDR62):c.2040T>C (p.His680=)
|
rs765451882
|
0.00001
|
|
NM_001083961.2(WDR62):c.3463-9T>C
|
rs1346976662
|
0.00001
|
|
NM_001083961.2(WDR62):c.525C>T (p.Tyr175=)
|
rs779093591
|
0.00001
|
|
NM_001085049.3(MRAS):c.348-17G>A
|
rs574806189
|
0.00001
|
|
NM_001098.3(ACO2):c.1550C>T (p.Thr517Met)
|
rs540169523
|
0.00001
|
|
NM_001098.3(ACO2):c.1776T>C (p.Cys592=)
|
rs368044961
|
0.00001
|
|
NM_001098511.3(KIF2A):c.1024G>A (p.Ala342Thr)
|
rs758143705
|
0.00001
|
|
NM_001099922.3(ALG13):c.1010T>A (p.Leu337Gln)
|
rs1189252877
|
0.00001
|
|
NM_001099922.3(ALG13):c.1954G>T (p.Gly652Cys)
|
rs1164687660
|
0.00001
|
|
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)
|
rs770931836
|
0.00001
|
|
NM_001100913.3(PACS2):c.1781-7C>T
|
rs1555412976
|
0.00001
|
|
NM_001100913.3(PACS2):c.2630A>G (p.Lys877Arg)
|
rs782685668
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.252C>T (p.Cys84=)
|
rs886051334
|
0.00001
|
|
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val)
|
rs782066542
|
0.00001
|
|
NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr)
|
rs1360400826
|
0.00001
|
|
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)
|
rs1557178198
|
0.00001
|
|
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)
|
rs371677498
|
0.00001
|
|
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys)
|
rs781816229
|
0.00001
|
|
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln)
|
rs782447567
|
0.00001
|
|
NM_001110556.2(FLNA):c.5786C>T (p.Pro1929Leu)
|
rs782359458
|
0.00001
|
|
NM_001110556.2(FLNA):c.7453G>A (p.Val2485Ile)
|
rs782190081
|
0.00001
|
|
NM_001110556.2(FLNA):c.7585G>A (p.Glu2529Lys)
|
rs1557175308
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3397G>A (p.Asp1133Asn)
|
rs1556859667
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3523C>T (p.Arg1175Cys)
|
rs1300877733
|
0.00001
|
|
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=)
|
rs72762644
|
0.00001
|
|
NM_001113378.2(FANCI):c.1311A>G (p.Arg437=)
|
rs772846275
|
0.00001
|
|
NM_001113378.2(FANCI):c.2292-6T>C
|
rs772352819
|
0.00001
|
|
NM_001113378.2(FANCI):c.3721-7C>T
|
rs1434575390
|
0.00001
|
|
NM_001113491.2(SEPTIN9):c.216A>G (p.Glu72=)
|
rs760234906
|
0.00001
|
|
NM_001113491.2(SEPTIN9):c.641C>T (p.Ala214Val)
|
rs200850474
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1220G>A
|
rs1445940471
|
0.00001
|
|
NM_001114134.2(EPB42):c.552C>T (p.Phe184=)
|
rs768899304
|
0.00001
|
|
NM_001114753.3(ENG):c.111C>T (p.Pro37=)
|
rs755626994
|
0.00001
|
|
NM_001114753.3(ENG):c.1273-5C>T
|
rs779103881
|
0.00001
|
|
NM_001114753.3(ENG):c.633C>T (p.Gly211=)
|
rs928192105
|
0.00001
|
|
NM_001122659.3(EDNRB):c.483+15C>T
|
rs936183003
|
0.00001
|
|
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile)
|
rs769399113
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr)
|
rs201398669
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser)
|
rs760816963
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg)
|
rs781006387
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu)
|
rs750077868
|
0.00001
|
|
NM_001127644.2(GABRA1):c.1045G>A (p.Val349Met)
|
rs1755340949
|
0.00001
|
|
NM_001128840.3(CACNA1D):c.6395A>G (p.Asp2132Gly)
|
rs779549091
|
0.00001
|
|
NM_001130823.3(DNMT1):c.3117-8G>A
|
rs769623856
|
0.00001
|
|
NM_001130823.3(DNMT1):c.3537G>A (p.Thr1179=)
|
rs761140414
|
0.00001
|
|
NM_001130823.3(DNMT1):c.4164C>T (p.Ser1388=)
|
rs779701784
|
0.00001
|
|
NM_001130823.3(DNMT1):c.720A>G (p.Arg240=)
|
rs760733624
|
0.00001
|
|
NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln)
|
rs375071568
|
0.00001
|
|
NM_001130987.2(DYSF):c.1276+13C>T
|
rs373530549
|
0.00001
|
|
NM_001130987.2(DYSF):c.1493+13T>C
|
rs886056279
|
0.00001
|
|
NM_001130987.2(DYSF):c.1577-1639G>C
|
rs767550929
|
0.00001
|
|
NM_001130987.2(DYSF):c.1807-13T>C
|
rs756387775
|
0.00001
|
|
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=)
|
rs550180529
|
0.00001
|
|
NM_001130987.2(DYSF):c.2400G>A (p.Leu800=)
|
rs757613811
|
0.00001
|
|
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile)
|
rs770883682
|
0.00001
|
|
NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=)
|
rs144072850
|
0.00001
|
|
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=)
|
rs368451006
|
0.00001
|
|
NM_001130987.2(DYSF):c.554-8C>T
|
rs1257627361
|
0.00001
|
|
NM_001130987.2(DYSF):c.5614G>A (p.Glu1872Lys)
|
rs201592500
|
0.00001
|
|
NM_001134363.3(RBM20):c.1059G>A (p.Glu353=)
|
rs749130573
|
0.00001
|
|
NM_001134363.3(RBM20):c.1100G>A (p.Arg367Gln)
|
rs878854247
|
0.00001
|
|
NM_001134363.3(RBM20):c.1139G>A (p.Arg380Gln)
|
rs777080028
|
0.00001
|
|
NM_001134363.3(RBM20):c.116G>A (p.Arg39Gln)
|
rs780367353
|
0.00001
|
|
NM_001134363.3(RBM20):c.1259A>G (p.Lys420Arg)
|
rs727505308
|
0.00001
|
|
NM_001134363.3(RBM20):c.1338-4C>G
|
rs753677364
|
0.00001
|
|
NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg)
|
rs774916799
|
0.00001
|
|
NM_001134363.3(RBM20):c.1868G>A (p.Arg623Gln)
|
rs1366402693
|
0.00001
|
|
NM_001134363.3(RBM20):c.1921C>T (p.Arg641Trp)
|
rs772991270
|
0.00001
|
|
NM_001134363.3(RBM20):c.2060A>G (p.Glu687Gly)
|
rs1051836531
|
0.00001
|
|
NM_001134363.3(RBM20):c.2174A>C (p.Glu725Ala)
|
rs967504449
|
0.00001
|
|
NM_001134363.3(RBM20):c.2276A>G (p.Tyr759Cys)
|
rs1463526980
|
0.00001
|
|
NM_001134363.3(RBM20):c.2410G>A (p.Glu804Lys)
|
rs957248353
|
0.00001
|
|
NM_001134363.3(RBM20):c.2464C>A (p.Gln822Lys)
|
rs377259044
|
0.00001
|
|
NM_001134363.3(RBM20):c.321G>C (p.Gln107His)
|
rs1413181007
|
0.00001
|
|
NM_001134363.3(RBM20):c.3301G>A (p.Glu1101Lys)
|
rs959605686
|
0.00001
|
|
NM_001134363.3(RBM20):c.3317-10T>C
|
rs772243422
|
0.00001
|
|
NM_001134363.3(RBM20):c.3609G>A (p.Lys1203=)
|
rs892459274
|
0.00001
|
|
NM_001134363.3(RBM20):c.717A>T (p.Thr239=)
|
rs886046700
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1030G>C (p.Asp344His)
|
rs777505684
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1343A>G (p.Glu448Gly)
|
rs1273711716
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3017C>T (p.Ala1006Val)
|
rs200526162
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3636G>A (p.Thr1212=)
|
rs765614514
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3809A>T (p.Asp1270Val)
|
rs750649530
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.687C>T (p.Leu229=)
|
rs372649219
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.843C>T (p.Tyr281=)
|
rs554338361
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.943G>A (p.Glu315Lys)
|
rs765104792
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.964G>A (p.Gly322Arg)
|
rs374637415
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.979C>G (p.Pro327Ala)
|
rs771168389
|
0.00001
|
|
NM_001142800.2(EYS):c.2511C>T (p.Cys837=)
|
rs999155902
|
0.00001
|
|
NM_001142800.2(EYS):c.3081C>T (p.Thr1027=)
|
rs1554207086
|
0.00001
|
|
NM_001142800.2(EYS):c.3420G>A (p.Gly1140=)
|
rs1325335839
|
0.00001
|
|
NM_001142800.2(EYS):c.5262G>A (p.Pro1754=)
|
rs779784002
|
0.00001
|
|
NM_001142800.2(EYS):c.5329T>C (p.Leu1777=)
|
rs1042931370
|
0.00001
|
|
NM_001142800.2(EYS):c.5487A>G (p.Lys1829=)
|
rs373872866
|
0.00001
|
|
NM_001142800.2(EYS):c.7122T>C (p.Ser2374=)
|
rs890076073
|
0.00001
|
|
NM_001142800.2(EYS):c.7170C>T (p.Ser2390=)
|
rs201364943
|
0.00001
|
|
NM_001142800.2(EYS):c.7803T>C (p.Asn2601=)
|
rs1342639553
|
0.00001
|
|
NM_001142800.2(EYS):c.8337C>T (p.Asn2779=)
|
rs745351348
|
0.00001
|
|
NM_001142800.2(EYS):c.8634C>T (p.Ala2878=)
|
rs763174826
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.4981G>A (p.Glu1661Lys)
|
rs1406098820
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.5557G>A (p.Gly1853Arg)
|
rs367636785
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln)
|
rs559847737
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.7130-5C>A
|
rs1357808025
|
0.00001
|
|
NM_001143992.2(WRAP53):c.621G>A (p.Glu207=)
|
rs200805760
|
0.00001
|
|
NM_001146079.2(CLDN14):c.15C>T (p.Ala5=)
|
rs387907416
|
0.00001
|
|
NM_001146079.2(CLDN14):c.18G>A (p.Val6=)
|
rs387907417
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.1560C>T (p.Pro520=)
|
rs886062724
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.3148C>T (p.Arg1050Trp)
|
rs563050274
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1209G>A (p.Ala403=)
|
rs199572145
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1860-4G>T
|
rs763267420
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=)
|
rs200166976
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=)
|
rs200045097
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=)
|
rs75138661
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3654G>A (p.Arg1218=)
|
rs1445232499
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.602+12A>G
|
rs199818612
|
0.00001
|
|
NM_001163435.3(TBCK):c.659-19T>C
|
rs1212469599
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1125-6T>C
|
rs782323567
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.21C>G (p.Gly7=)
|
rs370153031
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=)
|
rs782292086
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.786-7A>G
|
rs781887799
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.872-11T>C
|
rs1265857875
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.872-6C>G
|
rs781985446
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.986-15C>T
|
rs782640506
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.986-8C>T
|
rs782425309
|
0.00001
|
|
NM_001164507.2(NEB):c.21327T>G (p.Ala7109=)
|
rs777930884
|
0.00001
|
|
NM_001164508.2(NEB):c.10922C>T (p.Pro3641Leu)
|
rs377027708
|
0.00001
|
|
NM_001164508.2(NEB):c.10940T>C (p.Val3647Ala)
|
rs1316575607
|
0.00001
|
|
NM_001164508.2(NEB):c.11165G>A (p.Arg3722Gln)
|
rs757027644
|
0.00001
|
|
NM_001164508.2(NEB):c.11798T>C (p.Met3933Thr)
|
rs772235127
|
0.00001
|
|
NM_001164508.2(NEB):c.11843C>T (p.Ser3948Phe)
|
rs757175445
|
0.00001
|
|
NM_001164508.2(NEB):c.11954A>G (p.Tyr3985Cys)
|
rs745504838
|
0.00001
|
|
NM_001164508.2(NEB):c.11974A>G (p.Ile3992Val)
|
rs1465332264
|
0.00001
|
|
NM_001164508.2(NEB):c.11982C>G (p.Ile3994Met)
|
rs780157705
|
0.00001
|
|
NM_001164508.2(NEB):c.12234T>A (p.Thr4078=)
|
rs752937326
|
0.00001
|
|
NM_001164508.2(NEB):c.1227C>T (p.Leu409=)
|
rs371658494
|
0.00001
|
|
NM_001164508.2(NEB):c.12640-10C>T
|
rs1264692800
|
0.00001
|
|
NM_001164508.2(NEB):c.1423A>G (p.Ile475Val)
|
rs772070576
|
0.00001
|
|
NM_001164508.2(NEB):c.1528G>T (p.Val510Phe)
|
rs749473348
|
0.00001
|
|
NM_001164508.2(NEB):c.1621C>G (p.Pro541Ala)
|
rs1324280943
|
0.00001
|
|
NM_001164508.2(NEB):c.16750A>G (p.Met5584Val)
|
rs761807814
|
0.00001
|
|
NM_001164508.2(NEB):c.1698G>A (p.Glu566=)
|
rs1242070276
|
0.00001
|
|
NM_001164508.2(NEB):c.17243G>A (p.Arg5748Gln)
|
rs773983252
|
0.00001
|
|
NM_001164508.2(NEB):c.17573C>T (p.Thr5858Met)
|
rs747699601
|
0.00001
|
|
NM_001164508.2(NEB):c.17644C>T (p.Arg5882Trp)
|
rs769673154
|
0.00001
|
|
NM_001164508.2(NEB):c.17645G>A (p.Arg5882Gln)
|
rs558345996
|
0.00001
|
|
NM_001164508.2(NEB):c.17913T>A (p.Asp5971Glu)
|
rs1167894918
|
0.00001
|
|
NM_001164508.2(NEB):c.18083T>C (p.Leu6028Ser)
|
rs1221212842
|
0.00001
|
|
NM_001164508.2(NEB):c.18144C>T (p.Asp6048=)
|
rs1319860549
|
0.00001
|
|
NM_001164508.2(NEB):c.18375T>C (p.Tyr6125=)
|
rs1300207920
|
0.00001
|
|
NM_001164508.2(NEB):c.185C>T (p.Ser62Leu)
|
rs764417105
|
0.00001
|
|
NM_001164508.2(NEB):c.18613G>A (p.Gly6205Ser)
|
rs1292580496
|
0.00001
|
|
NM_001164508.2(NEB):c.18763G>A (p.Val6255Met)
|
rs781706876
|
0.00001
|
|
NM_001164508.2(NEB):c.18904G>A (p.Asp6302Asn)
|
rs766403303
|
0.00001
|
|
NM_001164508.2(NEB):c.19242C>T (p.Ala6414=)
|
rs773178453
|
0.00001
|
|
NM_001164508.2(NEB):c.19426G>A (p.Asp6476Asn)
|
rs752626000
|
0.00001
|
|
NM_001164508.2(NEB):c.1957C>T (p.Pro653Ser)
|
rs759215923
|
0.00001
|
|
NM_001164508.2(NEB):c.19597G>A (p.Val6533Ile)
|
rs368484176
|
0.00001
|
|
NM_001164508.2(NEB):c.19613A>T (p.Asp6538Val)
|
rs747034126
|
0.00001
|
|
NM_001164508.2(NEB):c.19894A>G (p.Lys6632Glu)
|
rs765189771
|
0.00001
|
|
NM_001164508.2(NEB):c.19903G>A (p.Asp6635Asn)
|
rs534519331
|
0.00001
|
|
NM_001164508.2(NEB):c.20033G>A (p.Arg6678His)
|
rs1487589344
|
0.00001
|
|
NM_001164508.2(NEB):c.20155G>A (p.Glu6719Lys)
|
rs767886794
|
0.00001
|
|
NM_001164508.2(NEB):c.20218C>A (p.Pro6740Thr)
|
rs199722285
|
0.00001
|
|
NM_001164508.2(NEB):c.20290A>G (p.Met6764Val)
|
rs372042301
|
0.00001
|
|
NM_001164508.2(NEB):c.20332A>G (p.Ile6778Val)
|
rs753409626
|
0.00001
|
|
NM_001164508.2(NEB):c.203G>A (p.Arg68Lys)
|
rs1014627144
|
0.00001
|
|
NM_001164508.2(NEB):c.20777T>C (p.Met6926Thr)
|
rs763737123
|
0.00001
|
|
NM_001164508.2(NEB):c.20846C>T (p.Thr6949Met)
|
rs767461697
|
0.00001
|
|
NM_001164508.2(NEB):c.20897G>A (p.Arg6966His)
|
rs767230683
|
0.00001
|
|
NM_001164508.2(NEB):c.20977G>A (p.Val6993Ile)
|
rs779881258
|
0.00001
|
|
NM_001164508.2(NEB):c.2099A>G (p.Asn700Ser)
|
rs770240346
|
0.00001
|
|
NM_001164508.2(NEB):c.21042G>A (p.Arg7014=)
|
rs778067687
|
0.00001
|
|
NM_001164508.2(NEB):c.21051T>C (p.Pro7017=)
|
rs767655200
|
0.00001
|
|
NM_001164508.2(NEB):c.2162C>T (p.Thr721Ile)
|
rs749168085
|
0.00001
|
|
NM_001164508.2(NEB):c.21706G>C (p.Ala7236Pro)
|
rs777945797
|
0.00001
|
|
NM_001164508.2(NEB):c.21761C>A (p.Ala7254Asp)
|
rs778063345
|
0.00001
|
|
NM_001164508.2(NEB):c.21841-6T>A
|
rs767466501
|
0.00001
|
|
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln)
|
rs756646859
|
0.00001
|
|
NM_001164508.2(NEB):c.2200C>G (p.Gln734Glu)
|
rs780299519
|
0.00001
|
|
NM_001164508.2(NEB):c.22022C>T (p.Ala7341Val)
|
rs550296441
|
0.00001
|
|
NM_001164508.2(NEB):c.22272+7T>C
|
rs762551492
|
0.00001
|
|
NM_001164508.2(NEB):c.22396C>T (p.Arg7466Cys)
|
rs768826001
|
0.00001
|
|
NM_001164508.2(NEB):c.22504A>G (p.Lys7502Glu)
|
rs376495046
|
0.00001
|
|
NM_001164508.2(NEB):c.22663C>T (p.His7555Tyr)
|
rs746454129
|
0.00001
|
|
NM_001164508.2(NEB):c.22750G>A (p.Asp7584Asn)
|
rs758761216
|
0.00001
|
|
NM_001164508.2(NEB):c.22801-7T>C
|
rs368298970
|
0.00001
|
|
NM_001164508.2(NEB):c.22906-6C>T
|
rs1449487575
|
0.00001
|
|
NM_001164508.2(NEB):c.22986T>C (p.His7662=)
|
rs149606244
|
0.00001
|
|
NM_001164508.2(NEB):c.23054G>A (p.Gly7685Glu)
|
rs768880396
|
0.00001
|
|
NM_001164508.2(NEB):c.23893G>C (p.Glu7965Gln)
|
rs767969927
|
0.00001
|
|
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys)
|
rs1202510810
|
0.00001
|
|
NM_001164508.2(NEB):c.24021+8G>A
|
rs1361035933
|
0.00001
|
|
NM_001164508.2(NEB):c.24493T>C (p.Tyr8165His)
|
rs775139388
|
0.00001
|
|
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu)
|
rs398124169
|
0.00001
|
|
NM_001164508.2(NEB):c.24743G>A (p.Arg8248His)
|
rs781388562
|
0.00001
|
|
NM_001164508.2(NEB):c.24873+7C>T
|
rs372378614
|
0.00001
|
|
NM_001164508.2(NEB):c.25089G>A (p.Ser8363=)
|
rs766453942
|
0.00001
|
|
NM_001164508.2(NEB):c.25107A>G (p.Pro8369=)
|
rs763433145
|
0.00001
|
|
NM_001164508.2(NEB):c.25219G>A (p.Glu8407Lys)
|
rs766943894
|
0.00001
|
|
NM_001164508.2(NEB):c.25259C>T (p.Ser8420Leu)
|
rs949111967
|
0.00001
|
|
NM_001164508.2(NEB):c.2755C>G (p.His919Asp)
|
rs373168257
|
0.00001
|
|
NM_001164508.2(NEB):c.2892T>C (p.Phe964=)
|
rs762595663
|
0.00001
|
|
NM_001164508.2(NEB):c.2954G>A (p.Arg985His)
|
rs769987120
|
0.00001
|
|
NM_001164508.2(NEB):c.2968A>G (p.Thr990Ala)
|
rs1043417027
|
0.00001
|
|
NM_001164508.2(NEB):c.2998C>T (p.Pro1000Ser)
|
rs763910385
|
0.00001
|
|
NM_001164508.2(NEB):c.3165C>T (p.Asp1055=)
|
rs1448712345
|
0.00001
|
|
NM_001164508.2(NEB):c.3224C>A (p.Ala1075Asp)
|
rs574309369
|
0.00001
|
|
NM_001164508.2(NEB):c.3349G>A (p.Val1117Met)
|
rs1404806019
|
0.00001
|
|
NM_001164508.2(NEB):c.3439G>A (p.Val1147Met)
|
rs757659868
|
0.00001
|
|
NM_001164508.2(NEB):c.3547A>G (p.Met1183Val)
|
rs371816204
|
0.00001
|
|
NM_001164508.2(NEB):c.3568-10A>G
|
rs774345653
|
0.00001
|
|
NM_001164508.2(NEB):c.3721G>T (p.Val1241Leu)
|
rs537769519
|
0.00001
|
|
NM_001164508.2(NEB):c.3758C>T (p.Thr1253Met)
|
rs767433330
|
0.00001
|
|
NM_001164508.2(NEB):c.413G>A (p.Arg138Gln)
|
rs747423578
|
0.00001
|
|
NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg)
|
rs762809955
|
0.00001
|
|
NM_001164508.2(NEB):c.4413G>A (p.Lys1471=)
|
rs755877926
|
0.00001
|
|
NM_001164508.2(NEB):c.4789C>T (p.Pro1597Ser)
|
rs772492791
|
0.00001
|
|
NM_001164508.2(NEB):c.5091G>C (p.Glu1697Asp)
|
rs1349969572
|
0.00001
|
|
NM_001164508.2(NEB):c.5326C>A (p.Gln1776Lys)
|
rs1306269352
|
0.00001
|
|
NM_001164508.2(NEB):c.5374A>G (p.Lys1792Glu)
|
rs541641039
|
0.00001
|
|
NM_001164508.2(NEB):c.5566C>T (p.Arg1856Trp)
|
rs755791156
|
0.00001
|
|
NM_001164508.2(NEB):c.5571A>G (p.Glu1857=)
|
rs201539560
|
0.00001
|
|
NM_001164508.2(NEB):c.5801G>A (p.Gly1934Asp)
|
rs763717355
|
0.00001
|
|
NM_001164508.2(NEB):c.5853C>A (p.Ala1951=)
|
rs757546480
|
0.00001
|
|
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr)
|
rs199862790
|
0.00001
|
|
NM_001164508.2(NEB):c.6235C>T (p.Arg2079Cys)
|
rs753064438
|
0.00001
|
|
NM_001164508.2(NEB):c.6262G>A (p.Val2088Ile)
|
rs747729019
|
0.00001
|
|
NM_001164508.2(NEB):c.6298C>T (p.Arg2100Trp)
|
rs756398214
|
0.00001
|
|
NM_001164508.2(NEB):c.6479A>G (p.Asn2160Ser)
|
rs774148469
|
0.00001
|
|
NM_001164508.2(NEB):c.6505A>G (p.Lys2169Glu)
|
rs752328965
|
0.00001
|
|
NM_001164508.2(NEB):c.6815A>G (p.Tyr2272Cys)
|
rs762107662
|
0.00001
|
|
NM_001164508.2(NEB):c.6868G>A (p.Ala2290Thr)
|
rs777601721
|
0.00001
|
|
NM_001164508.2(NEB):c.718-6C>T
|
rs371791129
|
0.00001
|
|
NM_001164508.2(NEB):c.7209T>A (p.Val2403=)
|
rs778083630
|
0.00001
|
|
NM_001164508.2(NEB):c.7228-5C>T
|
rs773213959
|
0.00001
|
|
NM_001164508.2(NEB):c.7374C>T (p.Ser2458=)
|
rs1318587515
|
0.00001
|
|
NM_001164508.2(NEB):c.739G>A (p.Ala247Thr)
|
rs571451076
|
0.00001
|
|
NM_001164508.2(NEB):c.7610A>C (p.Lys2537Thr)
|
rs375216853
|
0.00001
|
|
NM_001164508.2(NEB):c.761C>T (p.Thr254Met)
|
rs376835458
|
0.00001
|
|
NM_001164508.2(NEB):c.7628G>A (p.Arg2543Gln)
|
rs758589097
|
0.00001
|
|
NM_001164508.2(NEB):c.8257T>C (p.Tyr2753His)
|
rs548343514
|
0.00001
|
|
NM_001164508.2(NEB):c.877C>T (p.Pro293Ser)
|
rs200672688
|
0.00001
|
|
NM_001164508.2(NEB):c.8949A>C (p.Thr2983=)
|
rs774786443
|
0.00001
|
|
NM_001164508.2(NEB):c.9465C>G (p.Pro3155=)
|
rs1021985219
|
0.00001
|
|
NM_001164508.2(NEB):c.9540G>A (p.Pro3180=)
|
rs373833313
|
0.00001
|
|
NM_001164508.2(NEB):c.9796G>A (p.Val3266Met)
|
rs564504601
|
0.00001
|
|
NM_001165967.2(HES7):c.43-7G>A
|
rs987042061
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1212T>C (p.Pro404=)
|
rs748049105
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.131C>T (p.Pro44Leu)
|
rs372169542
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2277G>A (p.Val759=)
|
rs1030480370
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2402-11C>A
|
rs756209420
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2958A>G (p.Val986=)
|
rs752794292
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3339G>A (p.Leu1113=)
|
rs770303471
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.621G>A (p.Leu207=)
|
rs200521839
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.684C>T (p.Asp228=)
|
rs375424103
|
0.00001
|
|
NM_001173467.3(SP7):c.63G>A (p.Thr21=)
|
rs542641721
|
0.00001
|
|
NM_001174089.2(SLC4A11):c.1206C>T (p.Gly402=)
|
rs1396963242
|
0.00001
|
|
NM_001177316.2(SLC34A3):c.945C>T (p.Gly315=)
|
rs915920618
|
0.00001
|
|
NM_001177701.3(IFT27):c.481G>A (p.Glu161Lys)
|
rs753938507
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.1008+11C>T
|
rs367574304
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.1415+15A>G
|
rs370757950
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.222C>T (p.Asn74=)
|
rs1007871645
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=)
|
rs61742914
|
0.00001
|
|
NM_001184880.2(PCDH19):c.684G>A (p.Val228=)
|
rs201810406
|
0.00001
|
|
NM_001189.4(NKX3-2):c.873A>G (p.Arg291=)
|
rs921673580
|
0.00001
|
|
NM_001190274.2(FBXO11):c.146C>A (p.Pro49Gln)
|
rs1257345739
|
0.00001
|
|
NM_001193315.2(VIPAS39):c.1356+8C>T
|
rs988006454
|
0.00001
|
|
NM_001194998.2(CEP152):c.1008G>A (p.Leu336=)
|
rs1896842918
|
0.00001
|
|
NM_001195263.2(PDZD7):c.1722G>A (p.Val574=)
|
rs919717592
|
0.00001
|
|
NM_001195305.3(BBIP1):c.150G>A (p.Leu50=)
|
rs767511014
|
0.00001
|
|
NM_001197104.2(KMT2A):c.9176C>T (p.Pro3059Leu)
|
rs782800112
|
0.00001
|
|
NM_001199397.3(NEK1):c.3075C>T (p.Asn1025=)
|
rs886059227
|
0.00001
|
|
NM_001199397.3(NEK1):c.3405A>G (p.Gln1135=)
|
rs774338352
|
0.00001
|
|
NM_001199799.2(ILDR1):c.1560C>A (p.Gly520=)
|
rs369318229
|
0.00001
|
|
NM_001203.3(BMPR1B):c.896A>G (p.Lys299Arg)
|
rs773095683
|
0.00001
|
|
NM_001205293.3(CACNA1E):c.3719+6T>A
|
rs1656338337
|
0.00001
|
|
NM_001205293.3(CACNA1E):c.372G>A (p.Leu124=)
|
rs777684224
|
0.00001
|
|
NM_001205293.3(CACNA1E):c.4186C>T (p.Arg1396Cys)
|
rs770435124
|
0.00001
|
|
NM_001205293.3(CACNA1E):c.4606-3C>T
|
rs1037223207
|
0.00001
|
|
NM_001205293.3(CACNA1E):c.6346C>T (p.Arg2116Cys)
|
rs765523959
|
0.00001
|
|
NM_001206979.2(NR1H4):c.1353C>T (p.His451=)
|
rs574925287
|
0.00001
|
|
NM_001235.5(SERPINH1):c.393C>T (p.Gly131=)
|
rs760571465
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2507A>G (p.Tyr836Cys)
|
rs773004067
|
0.00001
|
|
NM_001242957.3(MAK):c.968C>G (p.Pro323Arg)
|
rs200641218
|
0.00001
|
|
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)
|
rs530089317
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1127-7C>G
|
rs761564953
|
0.00001
|
|
NM_001244710.2(GFPT1):c.1010-10A>G
|
rs753072061
|
0.00001
|
|
NM_001244710.2(GFPT1):c.2001C>T (p.Ser667=)
|
rs765856240
|
0.00001
|
|
NM_001252024.2(TRPM1):c.435C>A (p.Gly145=)
|
rs774819442
|
0.00001
|
|
NM_001256317.3(TMPRSS3):c.496C>T (p.Arg166Trp)
|
rs781395690
|
0.00001
|
|
NM_001256317.3(TMPRSS3):c.783-13C>A
|
rs140443203
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1008C>T (p.Ser336=)
|
rs145815113
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1215C>T (p.Tyr405=)
|
rs781762135
|
0.00001
|
|
NM_001256545.2(MEGF10):c.789G>A (p.Val263=)
|
rs1188804374
|
0.00001
|
|
NM_001256545.2(MEGF10):c.951C>T (p.Gly317=)
|
rs145870973
|
0.00001
|
|
NM_001271.4(CHD2):c.1503-5T>C
|
rs1008040869
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11546G>T (p.Gly3849Val)
|
rs145735492
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13035T>C (p.Tyr4345=)
|
rs545264816
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1995C>T (p.His665=)
|
rs752831166
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2515C>G (p.Gln839Glu)
|
rs1427132712
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3050T>G (p.Met1017Arg)
|
rs949130021
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4334G>A (p.Arg1445Gln)
|
rs751896015
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4713T>C (p.Asp1571=)
|
rs72657324
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5846G>A (p.Arg1949Gln)
|
rs761919869
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8099C>T (p.Thr2700Met)
|
rs369684624
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8345A>T (p.Gln2782Leu)
|
rs1420930266
|
0.00001
|
|
NM_001277115.2(DNAH11):c.938G>T (p.Ser313Ile)
|
rs1388667729
|
0.00001
|
|
NM_001277115.2(DNAH11):c.982+12G>A
|
rs546259810
|
0.00001
|
|
NM_001278116.2(L1CAM):c.1304C>T (p.Thr435Met)
|
rs371999853
|
0.00001
|
|
NM_001278116.2(L1CAM):c.1841C>T (p.Pro614Leu)
|
rs1557091552
|
0.00001
|
|
NM_001278116.2(L1CAM):c.1880C>T (p.Thr627Met)
|
rs398123360
|
0.00001
|
|
NM_001278116.2(L1CAM):c.255C>T (p.Thr85=)
|
rs201886318
|
0.00001
|
|
NM_001278116.2(L1CAM):c.2698G>A (p.Gly900Arg)
|
rs782097679
|
0.00001
|
|
NM_001278116.2(L1CAM):c.2722G>A (p.Glu908Lys)
|
rs199822230
|
0.00001
|
|
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys)
|
rs1557090130
|
0.00001
|
|
NM_001278116.2(L1CAM):c.666G>A (p.Lys222=)
|
rs782615469
|
0.00001
|
|
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=)
|
rs200813995
|
0.00001
|
|
NM_001278431.2(C1QTNF5):c.306G>A (p.Pro102=)
|
rs751346951
|
0.00001
|
|
NM_001278512.2(AP3B2):c.1053C>T (p.His351=)
|
rs1177973989
|
0.00001
|
|
NM_001286577.2(C2CD3):c.3196C>T (p.Leu1066Phe)
|
rs187512156
|
0.00001
|
|
NM_001288705.3(CSF1R):c.1056T>C (p.Ala352=)
|
rs755681714
|
0.00001
|
|
NM_001291303.3(FAT4):c.2896A>G (p.Ile966Val)
|
rs778631726
|
0.00001
|
|
NM_001291867.2(NHS):c.822G>A (p.Arg274=)
|
rs1192420369
|
0.00001
|
|
NM_001292063.2(OTOG):c.3124G>T (p.Asp1042Tyr)
|
rs973728066
|
0.00001
|
|
NM_001292063.2(OTOG):c.7268-7T>A
|
rs911853347
|
0.00001
|
|
NM_001297.5(CNGB1):c.705C>T (p.Pro235=)
|
rs748140894
|
0.00001
|
|
NM_001298.3(CNGA3):c.1831C>T (p.Leu611=)
|
rs747855074
|
0.00001
|
|
NM_001305581.2(LRMDA):c.602-8A>T
|
rs565236615
|
0.00001
|
|
NM_001321759.2(CDIN1):c.26A>G (p.Asp9Gly)
|
rs369346271
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln)
|
rs1926294168
|
0.00001
|
|
NM_001330078.2(NRXN1):c.1760-13C>G
|
rs886056171
|
0.00001
|
|
NM_001330078.2(NRXN1):c.2698A>C (p.Arg900=)
|
rs574531814
|
0.00001
|
|
NM_001330078.2(NRXN1):c.3012G>A (p.Lys1004=)
|
rs201118246
|
0.00001
|
|
NM_001330078.2(NRXN1):c.3237A>G (p.Gly1079=)
|
rs886056170
|
0.00001
|
|
NM_001330311.2(DVL1):c.1716G>C (p.Gly572=)
|
rs773112898
|
0.00001
|
|
NM_001349338.3(FOXP1):c.1964C>T (p.Ala655Val)
|
rs762475508
|
0.00001
|
|
NM_001349338.3(FOXP1):c.321C>T (p.Ile107=)
|
rs747108471
|
0.00001
|
|
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
|
rs148814769
|
0.00001
|
|
NM_001352514.2(HLCS):c.609C>T (p.Asp203=)
|
rs370118884
|
0.00001
|
|
NM_001352514.2(HLCS):c.723C>A (p.Gly241=)
|
rs886057077
|
0.00001
|
|
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=)
|
rs779907293
|
0.00001
|
|
NM_001355436.2(SPTB):c.5319C>T (p.Asp1773=)
|
rs767020547
|
0.00001
|
|
NM_001355436.2(SPTB):c.6324G>A (p.Ala2108=)
|
rs756164746
|
0.00001
|
|
NM_001358530.2(MOCS1):c.1788T>G (p.Ser596=)
|
rs200764011
|
0.00001
|
|
NM_001358530.2(MOCS1):c.426C>T (p.Leu142=)
|
rs375882259
|
0.00001
|
|
NM_001360.3(DHCR7):c.225C>T (p.Ile75=)
|
rs755182484
|
0.00001
|
|
NM_001360.3(DHCR7):c.322-7G>A
|
rs1359774813
|
0.00001
|
|
NM_001360.3(DHCR7):c.51C>T (p.Gly17=)
|
rs776713087
|
0.00001
|
|
NM_001360.3(DHCR7):c.756C>T (p.Asn252=)
|
rs774666247
|
0.00001
|
|
NM_001365308.1(BMPER):c.134-17T>C
|
rs542452381
|
0.00001
|
|
NM_001365951.3(KIF1B):c.1038-5del
|
rs886044976
|
0.00001
|
|
NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp)
|
rs574115531
|
0.00001
|
|
NM_001365999.1(SZT2):c.5316A>G (p.Glu1772=)
|
rs797046032
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1142A>G (p.Lys381Arg)
|
rs148287864
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3546A>G (p.Gln1182=)
|
rs760052391
|
0.00001
|
|
NM_001367624.2(ZNF469):c.1768G>A (p.Glu590Lys)
|
rs571115191
|
0.00001
|
|
NM_001367624.2(ZNF469):c.2661C>T (p.Ser887=)
|
rs1906033837
|
0.00001
|
|
NM_001367624.2(ZNF469):c.7595G>T (p.Arg2532Met)
|
rs553909579
|
0.00001
|
|
NM_001367721.1(CASK):c.2155+4G>A
|
rs749155089
|
0.00001
|
|
NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys)
|
rs751235198
|
0.00001
|
|
NM_001367721.1(CASK):c.997G>A (p.Glu333Lys)
|
rs1361659361
|
0.00001
|
|
NM_001369.3(DNAH5):c.10784C>T (p.Thr3595Met)
|
rs886043929
|
0.00001
|
|
NM_001369.3(DNAH5):c.10877C>T (p.Thr3626Met)
|
rs376067762
|
0.00001
|
|
NM_001369.3(DNAH5):c.11326G>A (p.Val3776Ile)
|
rs559545340
|
0.00001
|
|
NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe)
|
rs200798994
|
0.00001
|
|
NM_001369.3(DNAH5):c.12109G>C (p.Glu4037Gln)
|
rs775060022
|
0.00001
|
|
NM_001369.3(DNAH5):c.12114A>T (p.Glu4038Asp)
|
rs749640233
|
0.00001
|
|
NM_001369.3(DNAH5):c.12124C>T (p.Arg4042Trp)
|
rs768164911
|
0.00001
|
|
NM_001369.3(DNAH5):c.12250C>T (p.Arg4084Trp)
|
rs752895938
|
0.00001
|
|
NM_001369.3(DNAH5):c.12285A>T (p.Gly4095=)
|
rs774115728
|
0.00001
|
|
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala)
|
rs765649176
|
0.00001
|
|
NM_001369.3(DNAH5):c.13077G>A (p.Leu4359=)
|
rs148805204
|
0.00001
|
|
NM_001369.3(DNAH5):c.1837G>A (p.Asp613Asn)
|
rs141072655
|
0.00001
|
|
NM_001369.3(DNAH5):c.1904A>G (p.His635Arg)
|
rs564653952
|
0.00001
|
|
NM_001369.3(DNAH5):c.2259+8A>G
|
rs202137813
|
0.00001
|
|
NM_001369.3(DNAH5):c.257A>G (p.Asp86Gly)
|
rs147441805
|
0.00001
|
|
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr)
|
rs770975422
|
0.00001
|
|
NM_001369.3(DNAH5):c.3427C>T (p.Arg1143Cys)
|
rs775816222
|
0.00001
|
|
NM_001369.3(DNAH5):c.3642G>A (p.Met1214Ile)
|
rs1364628669
|
0.00001
|
|
NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala)
|
rs761168416
|
0.00001
|
|
NM_001369.3(DNAH5):c.4054-4T>C
|
rs200608915
|
0.00001
|
|
NM_001369.3(DNAH5):c.4269A>G (p.Ile1423Met)
|
rs779020258
|
0.00001
|
|
NM_001369.3(DNAH5):c.5199G>A (p.Ser1733=)
|
rs142806046
|
0.00001
|
|
NM_001369.3(DNAH5):c.5536C>G (p.Leu1846Val)
|
rs1311080684
|
0.00001
|
|
NM_001369.3(DNAH5):c.553G>A (p.Glu185Lys)
|
rs752339132
|
0.00001
|
|
NM_001369.3(DNAH5):c.5552T>C (p.Phe1851Ser)
|
rs368576880
|
0.00001
|
|
NM_001369.3(DNAH5):c.5563A>G (p.Ile1855Val)
|
rs1259929811
|
0.00001
|
|
NM_001369.3(DNAH5):c.6268C>T (p.Arg2090Trp)
|
rs774191944
|
0.00001
|
|
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=)
|
rs764201218
|
0.00001
|
|
NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp)
|
rs756444637
|
0.00001
|
|
NM_001369.3(DNAH5):c.710C>T (p.Pro237Leu)
|
rs757970855
|
0.00001
|
|
NM_001369.3(DNAH5):c.7131C>T (p.Phe2377=)
|
rs562255121
|
0.00001
|
|
NM_001369.3(DNAH5):c.7515G>A (p.Glu2505=)
|
rs1032671138
|
0.00001
|
|
NM_001369.3(DNAH5):c.7573G>A (p.Gly2525Arg)
|
rs771328747
|
0.00001
|
|
NM_001369.3(DNAH5):c.8517T>A (p.Asp2839Glu)
|
rs1318152994
|
0.00001
|
|
NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile)
|
rs756216163
|
0.00001
|
|
NM_001369.3(DNAH5):c.9213C>T (p.His3071=)
|
rs563907105
|
0.00001
|
|
NM_001369.3(DNAH5):c.9589C>T (p.Arg3197Trp)
|
rs753913853
|
0.00001
|
|
NM_001369.3(DNAH5):c.9897+9A>G
|
rs774932799
|
0.00001
|
|
NM_001369.3(DNAH5):c.9999A>G (p.Lys3333=)
|
rs1038607014
|
0.00001
|
|
NM_001369369.1(FOXN1):c.1554C>T (p.Thr518=)
|
rs146694795
|
0.00001
|
|
NM_001369369.1(FOXN1):c.42G>A (p.Pro14=)
|
rs553583507
|
0.00001
|
|
NM_001369369.1(FOXN1):c.589-12C>A
|
rs185748978
|
0.00001
|
|
NM_001370100.5(ZMYND11):c.1470A>G (p.Thr490=)
|
rs1437939162
|
0.00001
|
|
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln)
|
rs1085307502
|
0.00001
|
|
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu)
|
rs1389398299
|
0.00001
|
|
NM_001370259.2(MEN1):c.570G>A (p.Gly190=)
|
rs547249181
|
0.00001
|
|
NM_001370259.2(MEN1):c.655-5C>G
|
rs752563214
|
0.00001
|
|
NM_001371596.2(MFSD8):c.288A>G (p.Leu96=)
|
rs1008821019
|
0.00001
|
|
NM_001371596.2(MFSD8):c.421T>C (p.Leu141=)
|
rs778330834
|
0.00001
|
|
NM_001372051.1(CASP8):c.1038T>C (p.Pro346=)
|
rs768360449
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.1812T>C (p.Ser604=)
|
rs754573787
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.2209+9T>C
|
rs377124910
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.2932-9C>T
|
rs776616431
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.549T>C (p.Asp183=)
|
rs201160977
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.941-20A>G
|
rs1366870956
|
0.00001
|
|
NM_001374828.1(ARID1B):c.1220G>C (p.Gly407Ala)
|
rs1057522183
|
0.00001
|
|
NM_001374828.1(ARID1B):c.1410C>T (p.Ala470=)
|
rs1401866270
|
0.00001
|
|
NM_001374828.1(ARID1B):c.5031C>T (p.Pro1677=)
|
rs770164775
|
0.00001
|
|
NM_001374828.1(ARID1B):c.6258C>G (p.Ala2086=)
|
rs781082506
|
0.00001
|
|
NM_001374828.1(ARID1B):c.961G>T (p.Ala321Ser)
|
rs1268089519
|
0.00001
|
|
NM_001375808.2(LPIN2):c.1404C>T (p.Asp468=)
|
rs376147435
|
0.00001
|
|
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=)
|
rs753729438
|
0.00001
|
|
NM_001375808.2(LPIN2):c.590+8T>G
|
rs760846327
|
0.00001
|
|
NM_001375808.2(LPIN2):c.756G>A (p.Ala252=)
|
rs570485374
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.12514-5A>G
|
rs774476953
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=)
|
rs199792795
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=)
|
rs886050377
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met)
|
rs780247153
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=)
|
rs1024563256
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.2719-15T>C
|
rs748772899
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=)
|
rs527943422
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)
|
rs2273439
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=)
|
rs773425996
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=)
|
rs2048183675
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=)
|
rs1184080545
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=)
|
rs201817995
|
0.00001
|
|
NM_001376013.1(EPB41):c.1331G>A (p.Arg444His)
|
rs374316682
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.1000-7A>G
|
rs745325616
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.10848T>G (p.Ser3616=)
|
rs199958495
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.4611+14C>T
|
rs766124250
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=)
|
rs886047564
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.7782A>G (p.Pro2594=)
|
rs886047566
|
0.00001
|
|
NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn)
|
rs1465733702
|
0.00001
|
|
NM_001378120.1(MBD5):c.1663C>A (p.Pro555Thr)
|
rs1422887607
|
0.00001
|
|
NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser)
|
rs766104877
|
0.00001
|
|
NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly)
|
rs1376331579
|
0.00001
|
|
NM_001378120.1(MBD5):c.2688C>T (p.His896=)
|
rs1681222021
|
0.00001
|
|
NM_001378183.1(PIEZO2):c.470C>T (p.Pro157Leu)
|
rs1025310776
|
0.00001
|
|
NM_001378414.1(HDAC4):c.339+10G>A
|
rs199918439
|
0.00001
|
|
NM_001378452.1(ITPR1):c.1152-6T>C
|
rs752886993
|
0.00001
|
|
NM_001378452.1(ITPR1):c.140A>G (p.Asn47Ser)
|
rs561470737
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10079-10G>A
|
rs778996015
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=)
|
rs756623131
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10214-5C>T
|
rs751591632
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10385-9C>T
|
rs568809052
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10467C>T (p.His3489=)
|
rs371631738
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10947T>C (p.Ser3649=)
|
rs373024720
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=)
|
rs747747269
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11669-12C>T
|
rs774970704
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11669-14A>G
|
rs768036112
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11873-11G>A
|
rs571456553
|
0.00001
|
|
NM_001378454.1(ALMS1):c.12299-6G>A
|
rs771317399
|
0.00001
|
|
NM_001378454.1(ALMS1):c.12463-14C>G
|
rs766656843
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1339-12G>T
|
rs1260375872
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=)
|
rs572605877
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2466A>G (p.Gln822=)
|
rs755661115
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=)
|
rs532389598
|
0.00001
|
|
NM_001378454.1(ALMS1):c.325-6T>C
|
rs760582213
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=)
|
rs762003836
|
0.00001
|
|
NM_001378454.1(ALMS1):c.646+8C>G
|
rs760012033
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7005T>C (p.Asp2335=)
|
rs781592497
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=)
|
rs777796888
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9384A>G (p.Val3128=)
|
rs752453102
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9782-13T>G
|
rs530508947
|
0.00001
|
|
NM_001378609.3(OTOGL):c.4209A>T (p.Gly1403=)
|
rs747929635
|
0.00001
|
|
NM_001379081.2(FREM1):c.4801C>A (p.Gln1601Lys)
|
rs550726565
|
0.00001
|
|
NM_001379270.1(CNGA1):c.438-6C>T
|
rs794727950
|
0.00001
|
|
NM_001379500.1(COL18A1):c.107-12491C>T
|
rs749001958
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1836C>A (p.Ser612Arg)
|
rs200226791
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3374-7C>T
|
rs377480411
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=)
|
rs886042223
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7760A>G (p.Glu2587Gly)
|
rs766541647
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.959T>C (p.Ile320Thr)
|
rs886060584
|
0.00001
|
|
NM_001386393.1(PANK2):c.-10G>A
|
rs771710781
|
0.00001
|
|
NM_001386393.1(PANK2):c.258C>G (p.Val86=)
|
rs746054643
|
0.00001
|
|
NM_001386393.1(PANK2):c.298+10C>T
|
rs755815669
|
0.00001
|
|
NM_001386393.1(PANK2):c.54G>C (p.Arg18=)
|
rs930563925
|
0.00001
|
|
NM_001395413.1(POR):c.1152C>T (p.Asn384=)
|
rs1554558784
|
0.00001
|
|
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu)
|
rs370645073
|
0.00001
|
|
NM_001395413.1(POR):c.821+15C>T
|
rs540000393
|
0.00001
|
|
NM_001399.5(EDA):c.249C>G (p.Thr83=)
|
rs769141538
|
0.00001
|
|
NM_001457.4(FLNB):c.1148-8T>G
|
rs376416099
|
0.00001
|
|
NM_001457.4(FLNB):c.1384C>T (p.Leu462=)
|
rs139725835
|
0.00001
|
|
NM_001457.4(FLNB):c.1808C>T (p.Ser603Leu)
|
rs764538938
|
0.00001
|
|
NM_001457.4(FLNB):c.2136G>A (p.Lys712=)
|
rs777288340
|
0.00001
|
|
NM_001457.4(FLNB):c.2187C>T (p.His729=)
|
rs751586969
|
0.00001
|
|
NM_001457.4(FLNB):c.2297C>T (p.Thr766Met)
|
rs758045039
|
0.00001
|
|
NM_001457.4(FLNB):c.2356C>T (p.Arg786Trp)
|
rs201452322
|
0.00001
|
|
NM_001457.4(FLNB):c.2643C>T (p.Asn881=)
|
rs774413686
|
0.00001
|
|
NM_001457.4(FLNB):c.3144C>T (p.Pro1048=)
|
rs376519914
|
0.00001
|
|
NM_001457.4(FLNB):c.3176C>T (p.Ala1059Val)
|
rs570950728
|
0.00001
|
|
NM_001457.4(FLNB):c.3209C>T (p.Thr1070Ile)
|
rs201533113
|
0.00001
|
|
NM_001457.4(FLNB):c.3269A>G (p.Asn1090Ser)
|
rs755713308
|
0.00001
|
|
NM_001457.4(FLNB):c.4724C>T (p.Thr1575Met)
|
rs776237096
|
0.00001
|
|
NM_001457.4(FLNB):c.4766T>A (p.Met1589Lys)
|
rs780225340
|
0.00001
|
|
NM_001457.4(FLNB):c.4774G>A (p.Val1592Ile)
|
rs754360853
|
0.00001
|
|
NM_001457.4(FLNB):c.5043G>A (p.Pro1681=)
|
rs886042162
|
0.00001
|
|
NM_001457.4(FLNB):c.5258T>G (p.Phe1753Cys)
|
rs761508385
|
0.00001
|
|
NM_001457.4(FLNB):c.5729-4C>T
|
rs116142791
|
0.00001
|
|
NM_001457.4(FLNB):c.5816C>T (p.Thr1939Met)
|
rs372372509
|
0.00001
|
|
NM_001457.4(FLNB):c.5916C>T (p.Gly1972=)
|
rs112942586
|
0.00001
|
|
NM_001457.4(FLNB):c.6029G>A (p.Arg2010His)
|
rs188216614
|
0.00001
|
|
NM_001457.4(FLNB):c.6211G>A (p.Val2071Ile)
|
rs201831615
|
0.00001
|
|
NM_001457.4(FLNB):c.6226G>A (p.Ala2076Thr)
|
rs141559684
|
0.00001
|
|
NM_001457.4(FLNB):c.6237C>T (p.His2079=)
|
rs767109451
|
0.00001
|
|
NM_001457.4(FLNB):c.6310C>T (p.Arg2104Trp)
|
rs751795794
|
0.00001
|
|
NM_001457.4(FLNB):c.6590G>A (p.Arg2197Gln)
|
rs749488943
|
0.00001
|
|
NM_001457.4(FLNB):c.6794A>G (p.Lys2265Arg)
|
rs757365085
|
0.00001
|
|
NM_001457.4(FLNB):c.7176G>A (p.Thr2392=)
|
rs770144367
|
0.00001
|
|
NM_001457.4(FLNB):c.852C>T (p.Ala284=)
|
rs765017696
|
0.00001
|
|
NM_001457.4(FLNB):c.9A>G (p.Val3=)
|
rs199846967
|
0.00001
|
|
NM_001458.5(FLNC):c.1169A>G (p.Asn390Ser)
|
rs188905854
|
0.00001
|
|
NM_001458.5(FLNC):c.1766C>T (p.Ser589Leu)
|
rs780098760
|
0.00001
|
|
NM_001458.5(FLNC):c.2023C>T (p.Pro675Ser)
|
rs1227192105
|
0.00001
|
|
NM_001458.5(FLNC):c.2287C>T (p.His763Tyr)
|
rs1380984220
|
0.00001
|
|
NM_001458.5(FLNC):c.2424C>T (p.Gly808=)
|
rs764991202
|
0.00001
|
|
NM_001458.5(FLNC):c.3268G>T (p.Ala1090Ser)
|
rs760158891
|
0.00001
|
|
NM_001458.5(FLNC):c.4172C>T (p.Ser1391Leu)
|
rs755832014
|
0.00001
|
|
NM_001458.5(FLNC):c.470G>A (p.Arg157His)
|
rs752919962
|
0.00001
|
|
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp)
|
rs369187211
|
0.00001
|
|
NM_001458.5(FLNC):c.5458G>A (p.Gly1820Ser)
|
rs763930207
|
0.00001
|
|
NM_001458.5(FLNC):c.5935G>A (p.Ala1979Thr)
|
rs766127245
|
0.00001
|
|
NM_001458.5(FLNC):c.6572C>T (p.Thr2191Met)
|
rs768329311
|
0.00001
|
|
NM_001458.5(FLNC):c.6878G>A (p.Arg2293His)
|
rs1034483511
|
0.00001
|
|
NM_001458.5(FLNC):c.7328G>A (p.Arg2443Gln)
|
rs370293647
|
0.00001
|
|
NM_001558.4(IL10RA):c.1323G>A (p.Val441=)
|
rs746663189
|
0.00001
|
|
NM_001567.4(INPPL1):c.247-6C>T
|
rs199604909
|
0.00001
|
|
NM_001609.4(ACADSB):c.219G>A (p.Gln73=)
|
rs756256851
|
0.00001
|
|
NM_001609.4(ACADSB):c.681+14C>T
|
rs748185849
|
0.00001
|
|
NM_001613.4(ACTA2):c.808+14G>A
|
rs774120023
|
0.00001
|
|
NM_001625.4(AK2):c.202A>G (p.Met68Val)
|
rs548856916
|
0.00001
|
|
NM_001698.3(AUH):c.894+9C>A
|
rs1388023086
|
0.00001
|
|
NM_001715.3(BLK):c.369-10C>T
|
rs750408108
|
0.00001
|
|
NM_001754.5(RUNX1):c.111C>T (p.Ser37=)
|
rs1555899908
|
0.00001
|
|
NM_001754.5(RUNX1):c.1396A>T (p.Met466Leu)
|
rs762213305
|
0.00001
|
|
NM_001754.5(RUNX1):c.714C>T (p.Val238=)
|
rs776056802
|
0.00001
|
|
NM_001754.5(RUNX1):c.981G>C (p.Leu327=)
|
rs376269814
|
0.00001
|
|
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr)
|
rs781554389
|
0.00001
|
|
NM_001844.5(COL2A1):c.14G>C (p.Gly5Ala)
|
rs557340983
|
0.00001
|
|
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu)
|
rs904660062
|
0.00001
|
|
NM_001844.5(COL2A1):c.151C>T (p.Pro51Ser)
|
rs945234297
|
0.00001
|
|
NM_001844.5(COL2A1):c.1586C>A (p.Ala529Asp)
|
rs370407502
|
0.00001
|
|
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=)
|
rs368641858
|
0.00001
|
|
NM_001844.5(COL2A1):c.2083G>A (p.Val695Met)
|
rs751036439
|
0.00001
|
|
NM_001844.5(COL2A1):c.2147A>G (p.Gln716Arg)
|
rs1252045461
|
0.00001
|
|
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=)
|
rs371835359
|
0.00001
|
|
NM_001844.5(COL2A1):c.2309T>G (p.Val770Gly)
|
rs767686686
|
0.00001
|
|
NM_001844.5(COL2A1):c.2410-11C>T
|
rs886049447
|
0.00001
|
|
NM_001844.5(COL2A1):c.2602C>T (p.Pro868Ser)
|
rs770043048
|
0.00001
|
|
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=)
|
rs948633441
|
0.00001
|
|
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)
|
rs371268468
|
0.00001
|
|
NM_001844.5(COL2A1):c.2947G>A (p.Val983Ile)
|
rs772889503
|
0.00001
|
|
NM_001844.5(COL2A1):c.3083C>T (p.Thr1028Met)
|
rs770907704
|
0.00001
|
|
NM_001844.5(COL2A1):c.3107G>A (p.Arg1036Gln)
|
rs201956851
|
0.00001
|
|
NM_001844.5(COL2A1):c.3119C>T (p.Pro1040Leu)
|
rs978657987
|
0.00001
|
|
NM_001844.5(COL2A1):c.3215C>T (p.Pro1072Leu)
|
rs1489240592
|
0.00001
|
|
NM_001844.5(COL2A1):c.3241C>T (p.Pro1081Ser)
|
rs753709490
|
0.00001
|
|
NM_001844.5(COL2A1):c.3817G>A (p.Glu1273Lys)
|
rs778838205
|
0.00001
|
|
NM_001844.5(COL2A1):c.388G>C (p.Glu130Gln)
|
rs375448469
|
0.00001
|
|
NM_001844.5(COL2A1):c.3950T>C (p.Met1317Thr)
|
rs1555164561
|
0.00001
|
|
NM_001844.5(COL2A1):c.4020G>C (p.Lys1340Asn)
|
rs763777663
|
0.00001
|
|
NM_001844.5(COL2A1):c.4034A>C (p.Lys1345Thr)
|
rs775279845
|
0.00001
|
|
NM_001844.5(COL2A1):c.4185C>T (p.Asn1395=)
|
rs1284508374
|
0.00001
|
|
NM_001844.5(COL2A1):c.4204G>A (p.Glu1402Lys)
|
rs759583931
|
0.00001
|
|
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=)
|
rs201223454
|
0.00001
|
|
NM_001844.5(COL2A1):c.436C>T (p.Pro146Ser)
|
rs1181216326
|
0.00001
|
|
NM_001844.5(COL2A1):c.711T>A (p.Gly237=)
|
rs764487245
|
0.00001
|
|
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser)
|
rs1470645150
|
0.00001
|
|
NM_001845.6(COL4A1):c.1990+7T>C
|
rs773725275
|
0.00001
|
|
NM_001845.6(COL4A1):c.4796C>T (p.Ala1599Val)
|
rs766472965
|
0.00001
|
|
NM_001845.6(COL4A1):c.553-10T>C
|
rs370673476
|
0.00001
|
|
NM_001846.4(COL4A2):c.1264G>A (p.Gly422Arg)
|
rs779091629
|
0.00001
|
|
NM_001846.4(COL4A2):c.403G>A (p.Asp135Asn)
|
rs369865437
|
0.00001
|
|
NM_001846.4(COL4A2):c.4906G>A (p.Gly1636Ser)
|
rs753412782
|
0.00001
|
|
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met)
|
rs755782924
|
0.00001
|
|
NM_001851.6(COL9A1):c.88+7G>C
|
rs755501266
|
0.00001
|
|
NM_001852.4(COL9A2):c.846+10C>T
|
rs1045951380
|
0.00001
|
|
NM_001853.4(COL9A3):c.1009-12C>A
|
rs752646714
|
0.00001
|
|
NM_001853.4(COL9A3):c.1054-12C>T
|
rs1462378174
|
0.00001
|
|
NM_001853.4(COL9A3):c.1263C>T (p.Gly421=)
|
rs776017580
|
0.00001
|
|
NM_001853.4(COL9A3):c.1881C>T (p.Pro627=)
|
rs372602506
|
0.00001
|
|
NM_001853.4(COL9A3):c.72G>A (p.Gly24=)
|
rs777240987
|
0.00001
|
|
NM_001854.4(COL11A1):c.1052A>G (p.Gln351Arg)
|
rs751155680
|
0.00001
|
|
NM_001854.4(COL11A1):c.1054A>T (p.Arg352Trp)
|
rs1402379236
|
0.00001
|
|
NM_001854.4(COL11A1):c.1099G>A (p.Gly367Ser)
|
rs748391176
|
0.00001
|
|
NM_001854.4(COL11A1):c.1100G>A (p.Gly367Asp)
|
rs1402186540
|
0.00001
|
|
NM_001854.4(COL11A1):c.1211G>A (p.Gly404Asp)
|
rs748335883
|
0.00001
|
|
NM_001854.4(COL11A1):c.1414-9T>A
|
rs794727062
|
0.00001
|
|
NM_001854.4(COL11A1):c.1706C>T (p.Pro569Leu)
|
rs760689529
|
0.00001
|
|
NM_001854.4(COL11A1):c.1708C>T (p.Pro570Ser)
|
rs1194226000
|
0.00001
|
|
NM_001854.4(COL11A1):c.1744C>T (p.Pro582Ser)
|
rs746192125
|
0.00001
|
|
NM_001854.4(COL11A1):c.1776A>T (p.Gly592=)
|
rs1211057639
|
0.00001
|
|
NM_001854.4(COL11A1):c.191G>A (p.Arg64Lys)
|
rs1272896075
|
0.00001
|
|
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser)
|
rs56230601
|
0.00001
|
|
NM_001854.4(COL11A1):c.2187T>A (p.Asp729Glu)
|
rs754657948
|
0.00001
|
|
NM_001854.4(COL11A1):c.2231A>G (p.Lys744Arg)
|
rs775660447
|
0.00001
|
|
NM_001854.4(COL11A1):c.2610+9T>C
|
rs754222130
|
0.00001
|
|
NM_001854.4(COL11A1):c.2645G>A (p.Arg882His)
|
rs779869745
|
0.00001
|
|
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His)
|
rs368422725
|
0.00001
|
|
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu)
|
rs1040168773
|
0.00001
|
|
NM_001854.4(COL11A1):c.3076C>T (p.Arg1026Cys)
|
rs377320274
|
0.00001
|
|
NM_001854.4(COL11A1):c.3137G>A (p.Gly1046Glu)
|
rs773157346
|
0.00001
|
|
NM_001854.4(COL11A1):c.3401C>T (p.Pro1134Leu)
|
rs764478054
|
0.00001
|
|
NM_001854.4(COL11A1):c.3496G>T (p.Gly1166Cys)
|
rs777456846
|
0.00001
|
|
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu)
|
rs753649097
|
0.00001
|
|
NM_001854.4(COL11A1):c.3831A>C (p.Glu1277Asp)
|
rs780739712
|
0.00001
|
|
NM_001854.4(COL11A1):c.3982C>A (p.Gln1328Lys)
|
rs750014974
|
0.00001
|
|
NM_001854.4(COL11A1):c.4581T>A (p.Ser1527Arg)
|
rs146997967
|
0.00001
|
|
NM_001854.4(COL11A1):c.4609-8C>A
|
rs777390779
|
0.00001
|
|
NM_001854.4(COL11A1):c.4615C>T (p.Pro1539Ser)
|
rs1374575593
|
0.00001
|
|
NM_001854.4(COL11A1):c.4696G>T (p.Asp1566Tyr)
|
rs780611200
|
0.00001
|
|
NM_001854.4(COL11A1):c.4711G>T (p.Asp1571Tyr)
|
rs1277867710
|
0.00001
|
|
NM_001854.4(COL11A1):c.511G>A (p.Val171Met)
|
rs751182532
|
0.00001
|
|
NM_001854.4(COL11A1):c.5372A>G (p.Gln1791Arg)
|
rs1351190778
|
0.00001
|
|
NM_001854.4(COL11A1):c.862C>A (p.Pro288Thr)
|
rs748315186
|
0.00001
|
|
NM_001875.5(CPS1):c.2454A>G (p.Pro818=)
|
rs765712117
|
0.00001
|
|
NM_001875.5(CPS1):c.3174C>T (p.Gly1058=)
|
rs369030433
|
0.00001
|
|
NM_001875.5(CPS1):c.3286T>C (p.Leu1096=)
|
rs749825961
|
0.00001
|
|
NM_001875.5(CPS1):c.3303G>A (p.Val1101=)
|
rs774531676
|
0.00001
|
|
NM_001875.5(CPS1):c.3558+7G>A
|
rs764456030
|
0.00001
|
|
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)
|
rs778117194
|
0.00001
|
|
NM_001875.5(CPS1):c.390T>A (p.Gly130=)
|
rs577598098
|
0.00001
|
|
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln)
|
rs765106604
|
0.00001
|
|
NM_001875.5(CPS1):c.49G>A (p.Gly17Ser)
|
rs868808195
|
0.00001
|
|
NM_001876.4(CPT1A):c.1500G>A (p.Glu500=)
|
rs760474415
|
0.00001
|
|
NM_001887.4(CRYBB1):c.384G>A (p.Ser128=)
|
rs370514627
|
0.00001
|
|
NM_001903.5(CTNNA1):c.1593A>G (p.Gln531=)
|
rs200279871
|
0.00001
|
|
NM_001903.5(CTNNA1):c.1746A>G (p.Thr582=)
|
rs1181337385
|
0.00001
|
|
NM_001903.5(CTNNA1):c.1747+5G>A
|
rs377182398
|
0.00001
|
|
NM_001903.5(CTNNA1):c.2400G>A (p.Val800=)
|
rs1370483870
|
0.00001
|
|
NM_001903.5(CTNNA1):c.859-7T>G
|
rs374326029
|
0.00001
|
|
NM_001918.5(DBT):c.198G>A (p.Gln66=)
|
rs201714436
|
0.00001
|
|
NM_001943.5(DSG2):c.1479C>T (p.Asn493=)
|
rs778100657
|
0.00001
|
|
NM_001943.5(DSG2):c.1758T>C (p.Leu586=)
|
rs773812422
|
0.00001
|
|
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)
|
rs772744115
|
0.00001
|
|
NM_001943.5(DSG2):c.447T>C (p.Val149=)
|
rs1389484271
|
0.00001
|
|
NM_001943.5(DSG2):c.990C>T (p.Asn330=)
|
rs140575919
|
0.00001
|
|
NM_001961.4(EEF2):c.366C>T (p.Thr122=)
|
rs562486328
|
0.00001
|
|
NM_001987.5(ETV6):c.51T>C (p.Tyr17=)
|
rs144055004
|
0.00001
|
|
NM_001999.4(FBN2):c.1143G>T (p.Gly381=)
|
rs749428195
|
0.00001
|
|
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile)
|
rs773667668
|
0.00001
|
|
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val)
|
rs747248488
|
0.00001
|
|
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=)
|
rs1176811808
|
0.00001
|
|
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala)
|
rs779202876
|
0.00001
|
|
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp)
|
rs1192632165
|
0.00001
|
|
NM_001999.4(FBN2):c.5800+10G>A
|
rs546373462
|
0.00001
|
|
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=)
|
rs749647897
|
0.00001
|
|
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=)
|
rs772832233
|
0.00001
|
|
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu)
|
rs760247833
|
0.00001
|
|
NM_002076.4(GNS):c.1104G>T (p.Leu368=)
|
rs766168524
|
0.00001
|
|
NM_002103.5(GYS1):c.1242C>T (p.Pro414=)
|
rs751382433
|
0.00001
|
|
NM_002103.5(GYS1):c.216C>T (p.Gly72=)
|
rs773065230
|
0.00001
|
|
NM_002187.3(IL12B):c.105G>A (p.Leu35=)
|
rs1562113724
|
0.00001
|
|
NM_002187.3(IL12B):c.822C>T (p.Cys274=)
|
rs764163895
|
0.00001
|
|
NM_002225.5(IVD):c.150T>A (p.Arg50=)
|
rs762440985
|
0.00001
|
|
NM_002225.5(IVD):c.784+9C>T
|
rs1891254953
|
0.00001
|
|
NM_002234.4(KCNA5):c.1210C>T (p.Leu404=)
|
rs886049576
|
0.00001
|
|
NM_002234.4(KCNA5):c.1701G>A (p.Gly567=)
|
rs771735295
|
0.00001
|
|
NM_002241.5(KCNJ10):c.21G>A (p.Val7=)
|
rs750227861
|
0.00001
|
|
NM_002292.4(LAMB2):c.2720+13C>A
|
rs369359244
|
0.00001
|
|
NM_002294.3(LAMP2):c.556+13T>A
|
rs1380200946
|
0.00001
|
|
NM_002303.6(LEPR):c.921G>C (p.Gln307His)
|
rs531183918
|
0.00001
|
|
NM_002334.4(LRP4):c.2010G>A (p.Thr670=)
|
rs199654257
|
0.00001
|
|
NM_002335.4(LRP5):c.2463C>T (p.Thr821=)
|
rs778180589
|
0.00001
|
|
NM_002335.4(LRP5):c.4359C>T (p.Cys1453=)
|
rs755205426
|
0.00001
|
|
NM_002335.4(LRP5):c.480C>T (p.Pro160=)
|
rs377114189
|
0.00001
|
|
NM_002386.4(MC1R):c.66C>T (p.Pro22=)
|
rs773395822
|
0.00001
|
|
NM_002397.5(MEF2C):c.585C>T (p.Asn195=)
|
rs398123686
|
0.00001
|
|
NM_002427.4(MMP13):c.1251G>A (p.Pro417=)
|
rs150203792
|
0.00001
|
|
NM_002435.3(MPI):c.145-11T>C
|
rs768029221
|
0.00001
|
|
NM_002435.3(MPI):c.855G>A (p.Glu285=)
|
rs769504650
|
0.00001
|
|
NM_002437.5(MPV17):c.70+8T>G
|
rs755647054
|
0.00001
|
|
NM_002439.5(MSH3):c.1028-5A>T
|
rs774961818
|
0.00001
|
|
NM_002439.5(MSH3):c.195G>C (p.Ala65=)
|
rs761734241
|
0.00001
|
|
NM_002439.5(MSH3):c.2370A>G (p.Arg790=)
|
rs1278142628
|
0.00001
|
|
NM_002439.5(MSH3):c.580-5G>T
|
rs770150309
|
0.00001
|
|
NM_002447.4(MST1R):c.2464C>G (p.Gln822Glu)
|
rs375573917
|
0.00001
|
|
NM_002454.3(MTRR):c.1086G>A (p.Ala362=)
|
rs750381895
|
0.00001
|
|
NM_002454.3(MTRR):c.1769+8A>G
|
rs892239997
|
0.00001
|
|
NM_002454.3(MTRR):c.1890G>A (p.Gln630=)
|
rs9282786
|
0.00001
|
|
NM_002454.3(MTRR):c.399A>G (p.Val133=)
|
rs560392566
|
0.00001
|
|
NM_002470.4(MYH3):c.1260+18G>A
|
rs771181525
|
0.00001
|
|
NM_002473.6(MYH9):c.11A>G (p.Gln4Arg)
|
rs773960235
|
0.00001
|
|
NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu)
|
rs368797590
|
0.00001
|
|
NM_002473.6(MYH9):c.3592G>A (p.Val1198Met)
|
rs200732002
|
0.00001
|
|
NM_002473.6(MYH9):c.3903G>C (p.Lys1301Asn)
|
rs767235227
|
0.00001
|
|
NM_002473.6(MYH9):c.4306G>A (p.Ala1436Thr)
|
rs373912645
|
0.00001
|
|
NM_002473.6(MYH9):c.4391G>A (p.Arg1464His)
|
rs199968414
|
0.00001
|
|
NM_002473.6(MYH9):c.4448G>A (p.Arg1483Gln)
|
rs727503285
|
0.00001
|
|
NM_002473.6(MYH9):c.4741G>A (p.Glu1581Lys)
|
rs566790184
|
0.00001
|
|
NM_002473.6(MYH9):c.5151-5C>T
|
rs762613036
|
0.00001
|
|
NM_002473.6(MYH9):c.519-6T>G
|
rs867195616
|
0.00001
|
|
NM_002473.6(MYH9):c.5766-5C>T
|
rs746967490
|
0.00001
|
|
NM_002474.3(MYH11):c.1356T>A (p.Ala452=)
|
rs778073237
|
0.00001
|
|
NM_002474.3(MYH11):c.1576-4A>G
|
rs189193825
|
0.00001
|
|
NM_002474.3(MYH11):c.2997+10G>T
|
rs886051760
|
0.00001
|
|
NM_002474.3(MYH11):c.3831G>A (p.Glu1277=)
|
rs752821481
|
0.00001
|
|
NM_002474.3(MYH11):c.465C>T (p.Tyr155=)
|
rs145810355
|
0.00001
|
|
NM_002474.3(MYH11):c.4660G>A (p.Glu1554Lys)
|
rs372598970
|
0.00001
|
|
NM_002474.3(MYH11):c.4899C>T (p.Ala1633=)
|
rs760584464
|
0.00001
|
|
NM_002474.3(MYH11):c.540T>C (p.Ser180=)
|
rs182700462
|
0.00001
|
|
NM_002474.3(MYH11):c.720A>T (p.Ser240=)
|
rs143160789
|
0.00001
|
|
NM_002485.5(NBN):c.1056A>G (p.Leu352=)
|
rs369092711
|
0.00001
|
|
NM_002485.5(NBN):c.1383G>A (p.Pro461=)
|
rs886063169
|
0.00001
|
|
NM_002485.5(NBN):c.1397+3C>G
|
rs876660481
|
0.00001
|
|
NM_002485.5(NBN):c.171+4T>C
|
rs587782290
|
0.00001
|
|
NM_002485.5(NBN):c.1915-8C>T
|
rs368132097
|
0.00001
|
|
NM_002485.5(NBN):c.37+3A>G
|
rs764356392
|
0.00001
|
|
NM_002485.5(NBN):c.38-7A>G
|
rs863224392
|
0.00001
|
|
NM_002485.5(NBN):c.390A>G (p.Gln130=)
|
rs146150499
|
0.00001
|
|
NM_002485.5(NBN):c.567G>A (p.Gln189=)
|
rs1203807404
|
0.00001
|
|
NM_002485.5(NBN):c.646C>A (p.Gln216Lys)
|
rs769416
|
0.00001
|
|
NM_002485.5(NBN):c.666C>T (p.Phe222=)
|
rs876661098
|
0.00001
|
|
NM_002485.5(NBN):c.897G>A (p.Arg299=)
|
rs779798363
|
0.00001
|
|
NM_002485.5(NBN):c.994+5T>C
|
rs778254433
|
0.00001
|
|
NM_002506.3(NGF):c.174G>A (p.Ala58=)
|
rs147326889
|
0.00001
|
|
NM_002506.3(NGF):c.93C>G (p.Thr31=)
|
rs1014644520
|
0.00001
|
|
NM_002528.7(NTHL1):c.-1C>T
|
rs532310992
|
0.00001
|
|
NM_002528.7(NTHL1):c.402C>G (p.Thr134=)
|
rs1169048585
|
0.00001
|
|
NM_002528.7(NTHL1):c.621G>A (p.Pro207=)
|
rs745383145
|
0.00001
|
|
NM_002528.7(NTHL1):c.690G>A (p.Val230=)
|
rs756156987
|
0.00001
|
|
NM_002528.7(NTHL1):c.717C>T (p.Asn239=)
|
rs1475205147
|
0.00001
|
|
NM_002528.7(NTHL1):c.834C>T (p.Gly278=)
|
rs747049346
|
0.00001
|
|
NM_002529.4(NTRK1):c.1005G>A (p.Pro335=)
|
rs780334454
|
0.00001
|
|
NM_002529.4(NTRK1):c.1196-11T>C
|
rs1024148691
|
0.00001
|
|
NM_002529.4(NTRK1):c.12C>T (p.Gly4=)
|
rs757229319
|
0.00001
|
|
NM_002529.4(NTRK1):c.1359G>A (p.Pro453=)
|
rs200937156
|
0.00001
|
|
NM_002529.4(NTRK1):c.1646C>T (p.Ala549Val)
|
rs763247367
|
0.00001
|
|
NM_002529.4(NTRK1):c.1647G>A (p.Ala549=)
|
rs771010259
|
0.00001
|
|
NM_002529.4(NTRK1):c.1650C>T (p.Ser550=)
|
rs774664479
|
0.00001
|
|
NM_002529.4(NTRK1):c.1734C>G (p.Val578=)
|
rs953974597
|
0.00001
|
|
NM_002529.4(NTRK1):c.2047-6T>C
|
rs762866535
|
0.00001
|
|
NM_002529.4(NTRK1):c.2124C>T (p.Ser708=)
|
rs1371693296
|
0.00001
|
|
NM_002529.4(NTRK1):c.326A>G (p.Asp109Gly)
|
rs141592864
|
0.00001
|
|
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met)
|
rs138830253
|
0.00001
|
|
NM_002615.7(SERPINF1):c.510G>A (p.Thr170=)
|
rs765928741
|
0.00001
|
|
NM_002617.4(PEX10):c.112+11G>T
|
rs1322541651
|
0.00001
|
|
NM_002617.4(PEX10):c.194-5C>T
|
rs375032738
|
0.00001
|
|
NM_002618.4(PEX13):c.1158G>A (p.Lys386=)
|
rs371789976
|
0.00001
|
|
NM_002633.3(PGM1):c.327T>C (p.Ile109=)
|
rs770271653
|
0.00001
|
|
NM_002637.4(PHKA1):c.1698C>A (p.Ile566=)
|
rs369728544
|
0.00001
|
|
NM_002691.4(POLD1):c.1869G>T (p.Arg623=)
|
rs748380365
|
0.00001
|
|
NM_002691.4(POLD1):c.202+3A>G
|
rs375365167
|
0.00001
|
|
NM_002691.4(POLD1):c.2154+4G>A
|
rs373416476
|
0.00001
|
|
NM_002691.4(POLD1):c.2251-4G>A
|
rs768364989
|
0.00001
|
|
NM_002691.4(POLD1):c.2251-5C>T
|
rs1236954722
|
0.00001
|
|
NM_002691.4(POLD1):c.2388+4C>T
|
rs371542643
|
0.00001
|
|
NM_002691.4(POLD1):c.2717+4C>T
|
rs1064795361
|
0.00001
|
|
NM_002691.4(POLD1):c.2820+3C>T
|
rs986822818
|
0.00001
|
|
NM_002691.4(POLD1):c.2821-4G>A
|
rs369042179
|
0.00001
|
|
NM_002691.4(POLD1):c.2821-5C>T
|
rs1057521374
|
0.00001
|
|
NM_002691.4(POLD1):c.317-5C>T
|
rs768082423
|
0.00001
|
|
NM_002691.4(POLD1):c.429C>T (p.Gly143=)
|
rs372244044
|
0.00001
|
|
NM_002691.4(POLD1):c.537G>T (p.Gly179=)
|
rs756483178
|
0.00001
|
|
NM_002691.4(POLD1):c.55C>T (p.Arg19Cys)
|
rs368033860
|
0.00001
|
|
NM_002691.4(POLD1):c.583C>T (p.Arg195Ter)
|
rs377690809
|
0.00001
|
|
NM_002691.4(POLD1):c.758+4C>T
|
rs771346692
|
0.00001
|
|
NM_002700.3(POU4F3):c.798A>G (p.Pro266=)
|
rs572492254
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.-11C>T
|
rs1021510770
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.309G>A (p.Glu103=)
|
rs746113372
|
0.00001
|
|
NM_002775.5(HTRA1):c.573-8G>A
|
rs779261850
|
0.00001
|
|
NM_002778.4(PSAP):c.1146C>T (p.Cys382=)
|
rs573095617
|
0.00001
|
|
NM_002778.4(PSAP):c.1432-4A>G
|
rs775086571
|
0.00001
|
|
NM_002778.4(PSAP):c.250-12G>A
|
rs886047152
|
0.00001
|
|
NM_002778.4(PSAP):c.423C>T (p.Leu141=)
|
rs780891597
|
0.00001
|
|
NM_002878.4(RAD51D):c.144+3G>T
|
rs761057565
|
0.00001
|
|
NM_002878.4(RAD51D):c.739-3C>T
|
rs1235042092
|
0.00001
|
|
NM_002890.3(RASA1):c.2139T>C (p.Ser713=)
|
rs202220195
|
0.00001
|
|
NM_002890.3(RASA1):c.2926-14C>T
|
rs886060843
|
0.00001
|
|
NM_002890.3(RASA1):c.567G>A (p.Thr189=)
|
rs139174054
|
0.00001
|
|
NM_002907.4(RECQL):c.1661A>G (p.Tyr554Cys)
|
rs544884266
|
0.00001
|
|
NM_002907.4(RECQL):c.789G>A (p.Thr263=)
|
rs774302679
|
0.00001
|
|
NM_002941.4(ROBO1):c.2512G>A (p.Val838Ile)
|
rs189089312
|
0.00001
|
|
NM_002979.5(SCP2):c.1347A>G (p.Glu449=)
|
rs376582235
|
0.00001
|
|
NM_002979.5(SCP2):c.648T>C (p.Phe216=)
|
rs774694600
|
0.00001
|
|
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln)
|
rs200874294
|
0.00001
|
|
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)
|
rs370558210
|
0.00001
|
|
NM_003036.4(SKI):c.2058C>T (p.Ala686=)
|
rs1171554207
|
0.00001
|
|
NM_003036.4(SKI):c.2092C>T (p.Leu698=)
|
rs766929334
|
0.00001
|
|
NM_003070.5(SMARCA2):c.1064C>G (p.Ala355Gly)
|
rs1245060732
|
0.00001
|
|
NM_003070.5(SMARCA2):c.4164C>T (p.Asn1388=)
|
rs759832527
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2124-5C>A
|
rs182602020
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2439-12T>G
|
rs1462368992
|
0.00001
|
|
NM_003073.5(SMARCB1):c.362+8G>A
|
rs727504162
|
0.00001
|
|
NM_003108.4(SOX11):c.459C>T (p.Gly153=)
|
rs751093717
|
0.00001
|
|
NM_003108.4(SOX11):c.951C>T (p.Asn317=)
|
rs750390370
|
0.00001
|
|
NM_003119.4(SPG7):c.2373G>A (p.Pro791=)
|
rs768453376
|
0.00001
|
|
NM_003119.4(SPG7):c.618+14C>T
|
rs574361328
|
0.00001
|
|
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys)
|
rs773800556
|
0.00001
|
|
NM_003172.4(SURF1):c.106+15C>G
|
rs781892153
|
0.00001
|
|
NM_003172.4(SURF1):c.366C>T (p.Val122=)
|
rs886063630
|
0.00001
|
|
NM_003172.4(SURF1):c.801G>A (p.Leu267=)
|
rs782120692
|
0.00001
|
|
NM_003183.6(ADAM17):c.362-11T>C
|
rs1664944582
|
0.00001
|
|
NM_003193.5(TBCE):c.133G>A (p.Glu45Lys)
|
rs199888401
|
0.00001
|
|
NM_003200.5(TCF3):c.549+7C>T
|
rs747579840
|
0.00001
|
|
NM_003238.6(TGFB2):c.918G>A (p.Ala306=)
|
rs767936611
|
0.00001
|
|
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=)
|
rs886058304
|
0.00001
|
|
NM_003283.6(TNNT1):c.366C>T (p.Arg122=)
|
rs375999352
|
0.00001
|
|
NM_003289.4(TPM2):c.558C>T (p.Ala186=)
|
rs746177794
|
0.00001
|
|
NM_003289.4(TPM2):c.564-9C>T
|
rs763429317
|
0.00001
|
|
NM_003331.5(TYK2):c.1404C>T (p.Asp468=)
|
rs374132564
|
0.00001
|
|
NM_003331.5(TYK2):c.2658G>A (p.Ala886=)
|
rs761205319
|
0.00001
|
|
NM_003331.5(TYK2):c.879C>T (p.Ile293=)
|
rs375414145
|
0.00001
|
|
NM_003383.5(VLDLR):c.1343G>A (p.Arg448Gln)
|
rs137946976
|
0.00001
|
|
NM_003383.5(VLDLR):c.1782G>A (p.Leu594=)
|
rs376819187
|
0.00001
|
|
NM_003384.3(VRK1):c.576+9A>G
|
rs978347799
|
0.00001
|
|
NM_003384.3(VRK1):c.577-4A>G
|
rs1194395636
|
0.00001
|
|
NM_003384.3(VRK1):c.828T>C (p.Ile276=)
|
rs1334577291
|
0.00001
|
|
NM_003392.7(WNT5A):c.530G>C (p.Trp177Ser)
|
rs1231823028
|
0.00001
|
|
NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser)
|
rs1034877221
|
0.00001
|
|
NM_003480.4(MFAP5):c.300G>A (p.Pro100=)
|
rs1294533558
|
0.00001
|
|
NM_003482.4(KMT2D):c.10467G>T (p.Gln3489His)
|
rs535351117
|
0.00001
|
|
NM_003482.4(KMT2D):c.11304T>C (p.Ala3768=)
|
rs771212750
|
0.00001
|
|
NM_003482.4(KMT2D):c.11599C>A (p.Gln3867Lys)
|
rs1200655258
|
0.00001
|
|
NM_003482.4(KMT2D):c.11815C>G (p.Gln3939Glu)
|
rs1326092141
|
0.00001
|
|
NM_003482.4(KMT2D):c.13645G>A (p.Glu4549Lys)
|
rs1238014538
|
0.00001
|
|
NM_003482.4(KMT2D):c.14057A>C (p.Asn4686Thr)
|
rs1188206999
|
0.00001
|
|
NM_003482.4(KMT2D):c.14075+8C>T
|
rs962057732
|
0.00001
|
|
NM_003482.4(KMT2D):c.181G>A (p.Gly61Ser)
|
rs1938304119
|
0.00001
|
|
NM_003482.4(KMT2D):c.307C>T (p.Pro103Ser)
|
rs976882824
|
0.00001
|
|
NM_003482.4(KMT2D):c.3896G>A (p.Arg1299His)
|
rs1266718915
|
0.00001
|
|
NM_003482.4(KMT2D):c.3982C>T (p.Arg1328Trp)
|
rs754797404
|
0.00001
|
|
NM_003482.4(KMT2D):c.4123C>T (p.Leu1375=)
|
rs1368572
|
0.00001
|
|
NM_003482.4(KMT2D):c.6284G>A (p.Arg2095His)
|
rs374216845
|
0.00001
|
|
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe)
|
rs758685548
|
0.00001
|
|
NM_003482.4(KMT2D):c.7170G>A (p.Pro2390=)
|
rs3741625
|
0.00001
|
|
NM_003482.4(KMT2D):c.941C>G (p.Ser314Cys)
|
rs1043654062
|
0.00001
|
|
NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=)
|
rs561645994
|
0.00001
|
|
NM_003630.3(PEX3):c.513A>G (p.Leu171=)
|
rs769938240
|
0.00001
|
|
NM_003630.3(PEX3):c.748-4A>G
|
rs1024883914
|
0.00001
|
|
NM_003659.4(AGPS):c.549A>G (p.Val183=)
|
rs774279058
|
0.00001
|
|
NM_003659.4(AGPS):c.891T>C (p.Cys297=)
|
rs755884284
|
0.00001
|
|
NM_003664.5(AP3B1):c.1364-11A>G
|
rs759174401
|
0.00001
|
|
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=)
|
rs774196917
|
0.00001
|
|
NM_003664.5(AP3B1):c.2890T>C (p.Leu964=)
|
rs750377910
|
0.00001
|
|
NM_003664.5(AP3B1):c.537-7T>A
|
rs773657171
|
0.00001
|
|
NM_003680.4(YARS1):c.391C>T (p.Leu131=)
|
rs759430430
|
0.00001
|
|
NM_003722.5(TP63):c.1644C>T (p.Ser548=)
|
rs763019843
|
0.00001
|
|
NM_003737.4(DCHS1):c.973C>T (p.Arg325Trp)
|
rs758453554
|
0.00001
|
|
NM_003742.4(ABCB11):c.1350G>T (p.Met450Ile)
|
rs542821407
|
0.00001
|
|
NM_003742.4(ABCB11):c.216T>C (p.His72=)
|
rs1174260635
|
0.00001
|
|
NM_003742.4(ABCB11):c.2202A>C (p.Glu734Asp)
|
rs369865521
|
0.00001
|
|
NM_003742.4(ABCB11):c.2457C>A (p.Ala819=)
|
rs1398103963
|
0.00001
|
|
NM_003742.4(ABCB11):c.2490G>A (p.Arg830=)
|
rs775663263
|
0.00001
|
|
NM_003742.4(ABCB11):c.2628C>T (p.Ile876=)
|
rs200127070
|
0.00001
|
|
NM_003742.4(ABCB11):c.2655C>T (p.Asn885=)
|
rs756738723
|
0.00001
|
|
NM_003742.4(ABCB11):c.280G>A (p.Asp94Asn)
|
rs760920706
|
0.00001
|
|
NM_003742.4(ABCB11):c.2988T>C (p.Asn996=)
|
rs762824612
|
0.00001
|
|
NM_003742.4(ABCB11):c.3766-10C>T
|
rs369104228
|
0.00001
|
|
NM_003742.4(ABCB11):c.3768G>A (p.Thr1256=)
|
rs773371540
|
0.00001
|
|
NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn)
|
rs201693189
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.876A>G (p.Lys292=)
|
rs775591571
|
0.00001
|
|
NM_003764.4(STX11):c.570C>T (p.Ser190=)
|
rs148354227
|
0.00001
|
|
NM_003816.3(ADAM9):c.2160G>A (p.Arg720=)
|
rs536279890
|
0.00001
|
|
NM_003835.4(RGS9):c.1645C>T (p.Arg549Cys)
|
rs574696410
|
0.00001
|
|
NM_003835.4(RGS9):c.1662C>T (p.Thr554=)
|
rs200492363
|
0.00001
|
|
NM_003839.4(TNFRSF11A):c.1476G>A (p.Gln492=)
|
rs1320012238
|
0.00001
|
|
NM_003846.3(PEX11B):c.375-7G>A
|
rs1049689144
|
0.00001
|
|
NM_003849.4(SUCLG1):c.201+8T>A
|
rs764185628
|
0.00001
|
|
NM_003850.3(SUCLA2):c.1318-15G>A
|
rs369590382
|
0.00001
|
|
NM_003850.3(SUCLA2):c.535-13C>T
|
rs372847680
|
0.00001
|
|
NM_003859.3(DPM1):c.295+7C>T
|
rs775797102
|
0.00001
|
|
NM_003859.3(DPM1):c.295+8G>A
|
rs758553918
|
0.00001
|
|
NM_003977.4(AIP):c.159C>T (p.Ser53=)
|
rs764878127
|
0.00001
|
|
NM_003977.4(AIP):c.345G>C (p.Leu115=)
|
rs996404334
|
0.00001
|
|
NM_003977.4(AIP):c.6G>A (p.Ala2=)
|
rs1865725846
|
0.00001
|
|
NM_003977.4(AIP):c.783C>T (p.Tyr261=)
|
rs267606576
|
0.00001
|
|
NM_003978.5(PSTPIP1):c.1248T>C (p.Leu416=)
|
rs556322755
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1125G>C (p.Val375=)
|
rs371346432
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1497A>C (p.Gly499=)
|
rs1566438384
|
0.00001
|
|
NM_003982.4(SLC7A7):c.585G>A (p.Leu195=)
|
rs768649205
|
0.00001
|
|
NM_003982.4(SLC7A7):c.998+9G>C
|
rs1350841635
|
0.00001
|
|
NM_004004.6(GJB2):c.126G>T (p.Glu42Asp)
|
rs535635403
|
0.00001
|
|
NM_004004.6(GJB2):c.628T>C (p.Leu210=)
|
rs1036073348
|
0.00001
|
|
NM_004006.3(DMD):c.2472C>G (p.Asn824Lys)
|
rs778811645
|
0.00001
|
|
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)
|
rs200872948
|
0.00001
|
|
NM_004035.7(ACOX1):c.1821T>C (p.Val607=)
|
rs762221413
|
0.00001
|
|
NM_004035.7(ACOX1):c.408T>C (p.Tyr136=)
|
rs779313800
|
0.00001
|
|
NM_004035.7(ACOX1):c.659-4G>A
|
rs746563980
|
0.00001
|
|
NM_004064.5(CDKN1B):c.279G>A (p.Arg93=)
|
rs766901538
|
0.00001
|
|
NM_004100.5(EYA4):c.438-15T>C
|
rs752763979
|
0.00001
|
|
NM_004100.5(EYA4):c.888G>A (p.Ser296=)
|
rs768010410
|
0.00001
|
|
NM_004171.4(SLC1A2):c.1422-6C>G
|
rs1453510369
|
0.00001
|
|
NM_004187.5(KDM5C):c.3020G>A (p.Arg1007His)
|
rs1556836492
|
0.00001
|
|
NM_004211.5(SLC6A5):c.4-11T>C
|
rs774039277
|
0.00001
|
|
NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=)
|
rs369316409
|
0.00001
|
|
NM_004239.4(TRIP11):c.5607A>G (p.Glu1869=)
|
rs764596712
|
0.00001
|
|
NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=)
|
rs748645116
|
0.00001
|
|
NM_004268.5(MED17):c.390C>G (p.Val130=)
|
rs769907044
|
0.00001
|
|
NM_004281.4(BAG3):c.1418G>A (p.Arg473Gln)
|
rs150156178
|
0.00001
|
|
NM_004304.5(ALK):c.1908C>G (p.Leu636=)
|
rs1268649558
|
0.00001
|
|
NM_004304.5(ALK):c.2304T>C (p.Asp768=)
|
rs758649392
|
0.00001
|
|
NM_004304.5(ALK):c.3366G>A (p.Leu1122=)
|
rs758871506
|
0.00001
|
|
NM_004304.5(ALK):c.3744-5C>T
|
rs750800690
|
0.00001
|
|
NM_004304.5(ALK):c.4344C>T (p.Ser1448=)
|
rs886055929
|
0.00001
|
|
NM_004304.5(ALK):c.4608G>A (p.Glu1536=)
|
rs147241767
|
0.00001
|
|
NM_004304.5(ALK):c.4809T>C (p.His1603=)
|
rs758502850
|
0.00001
|
|
NM_004320.6(ATP2A1):c.450C>T (p.Ile150=)
|
rs781369773
|
0.00001
|
|
NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln)
|
rs191742018
|
0.00001
|
|
NM_004357.5(CD151):c.379A>C (p.Lys127Gln)
|
rs559057238
|
0.00001
|
|
NM_004360.5(CDH1):c.1009-14C>T
|
rs368293695
|
0.00001
|
|
NM_004360.5(CDH1):c.1138-10T>C
|
rs758324153
|
0.00001
|
|
NM_004360.5(CDH1):c.1138-13C>G
|
rs1399457483
|
0.00001
|
|
NM_004360.5(CDH1):c.1138-15C>G
|
rs752733398
|
0.00001
|
|
NM_004360.5(CDH1):c.150C>A (p.Arg50=)
|
rs786201262
|
0.00001
|
|
NM_004360.5(CDH1):c.1773C>T (p.Asn591=)
|
rs373719554
|
0.00001
|
|
NM_004360.5(CDH1):c.1842C>T (p.Ile614=)
|
rs773368593
|
0.00001
|
|
NM_004360.5(CDH1):c.1929C>T (p.Asn643=)
|
rs374152504
|
0.00001
|
|
NM_004360.5(CDH1):c.2026G>A (p.Asp676Asn)
|
rs115408226
|
0.00001
|
|
NM_004360.5(CDH1):c.2091G>A (p.Lys697=)
|
rs61747635
|
0.00001
|
|
NM_004360.5(CDH1):c.2261A>G (p.Tyr754Cys)
|
rs767613429
|
0.00001
|
|
NM_004360.5(CDH1):c.2318A>G (p.His773Arg)
|
rs587782823
|
0.00001
|
|
NM_004360.5(CDH1):c.2322G>A (p.Arg774=)
|
rs150734856
|
0.00001
|
|
NM_004360.5(CDH1):c.2505T>C (p.Tyr835=)
|
rs786202613
|
0.00001
|
|
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys)
|
rs34507583
|
0.00001
|
|
NM_004360.5(CDH1):c.27G>A (p.Ser9=)
|
rs786201257
|
0.00001
|
|
NM_004360.5(CDH1):c.462A>G (p.Arg154=)
|
rs1057520261
|
0.00001
|
|
NM_004369.4(COL6A3):c.1022G>A (p.Arg341His)
|
rs140510298
|
0.00001
|
|
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)
|
rs778403814
|
0.00001
|
|
NM_004369.4(COL6A3):c.575C>T (p.Pro192Leu)
|
rs563800854
|
0.00001
|
|
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala)
|
rs201343487
|
0.00001
|
|
NM_004370.6(COL12A1):c.2396G>A (p.Gly799Glu)
|
rs772979149
|
0.00001
|
|
NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys)
|
rs764448554
|
0.00001
|
|
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile)
|
rs745852751
|
0.00001
|
|
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser)
|
rs994920789
|
0.00001
|
|
NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys)
|
rs778941390
|
0.00001
|
|
NM_004371.4(COPA):c.2809G>A (p.Glu937Lys)
|
rs552778606
|
0.00001
|
|
NM_004371.4(COPA):c.2993C>T (p.Ala998Val)
|
rs761919408
|
0.00001
|
|
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met)
|
rs542970560
|
0.00001
|
|
NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp)
|
rs1211983012
|
0.00001
|
|
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu)
|
rs587783512
|
0.00001
|
|
NM_004407.4(DMP1):c.402G>A (p.Leu134=)
|
rs780110476
|
0.00001
|
|
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser)
|
rs746245682
|
0.00001
|
|
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro)
|
rs763523373
|
0.00001
|
|
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln)
|
rs397516916
|
0.00001
|
|
NM_004415.4(DSP):c.1279A>G (p.Lys427Glu)
|
rs1430756602
|
0.00001
|
|
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn)
|
rs1037212969
|
0.00001
|
|
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys)
|
rs781084693
|
0.00001
|
|
NM_004415.4(DSP):c.1564C>G (p.Leu522Val)
|
rs1230995902
|
0.00001
|
|
NM_004415.4(DSP):c.1960G>A (p.Val654Ile)
|
rs375629257
|
0.00001
|
|
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys)
|
rs749238502
|
0.00001
|
|
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe)
|
rs1363445022
|
0.00001
|
|
NM_004415.4(DSP):c.2131-5G>C
|
rs767939332
|
0.00001
|
|
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys)
|
rs755067397
|
0.00001
|
|
NM_004415.4(DSP):c.2423G>A (p.Arg808His)
|
rs372906646
|
0.00001
|
|
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro)
|
rs1008407158
|
0.00001
|
|
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln)
|
rs759869347
|
0.00001
|
|
NM_004415.4(DSP):c.2850T>G (p.Ile950Met)
|
rs727502999
|
0.00001
|
|
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro)
|
rs745641212
|
0.00001
|
|
NM_004415.4(DSP):c.2872A>G (p.Ile958Val)
|
rs377116090
|
0.00001
|
|
NM_004415.4(DSP):c.2878-4G>A
|
rs758303966
|
0.00001
|
|
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr)
|
rs397516929
|
0.00001
|
|
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp)
|
rs772551736
|
0.00001
|
|
NM_004415.4(DSP):c.308G>A (p.Arg103Gln)
|
rs775015862
|
0.00001
|
|
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)
|
rs762238621
|
0.00001
|
|
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)
|
rs761331634
|
0.00001
|
|
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys)
|
rs751566392
|
0.00001
|
|
NM_004415.4(DSP):c.385C>T (p.Arg129Trp)
|
rs777763456
|
0.00001
|
|
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn)
|
rs144465638
|
0.00001
|
|
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)
|
rs530481219
|
0.00001
|
|
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro)
|
rs751972271
|
0.00001
|
|
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn)
|
rs750607476
|
0.00001
|
|
NM_004415.4(DSP):c.4671G>A (p.Thr1557=)
|
rs367767551
|
0.00001
|
|
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr)
|
rs757753880
|
0.00001
|
|
NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe)
|
rs372452104
|
0.00001
|
|
NM_004415.4(DSP):c.5217C>T (p.Ser1739=)
|
rs748263306
|
0.00001
|
|
NM_004415.4(DSP):c.5283C>T (p.Asn1761=)
|
rs763355815
|
0.00001
|
|
NM_004415.4(DSP):c.5649G>A (p.Ser1883=)
|
rs760974941
|
0.00001
|
|
NM_004415.4(DSP):c.5820T>C (p.Asp1940=)
|
rs763026647
|
0.00001
|
|
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn)
|
rs759443302
|
0.00001
|
|
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)
|
rs557263443
|
0.00001
|
|
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr)
|
rs377035113
|
0.00001
|
|
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys)
|
rs372242085
|
0.00001
|
|
NM_004415.4(DSP):c.664C>T (p.Arg222Trp)
|
rs1233981969
|
0.00001
|
|
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu)
|
rs759982048
|
0.00001
|
|
NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr)
|
rs730880089
|
0.00001
|
|
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr)
|
rs772381363
|
0.00001
|
|
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys)
|
rs765245807
|
0.00001
|
|
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr)
|
rs777901747
|
0.00001
|
|
NM_004415.4(DSP):c.7551G>A (p.Val2517=)
|
rs754127386
|
0.00001
|
|
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys)
|
rs751712837
|
0.00001
|
|
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val)
|
rs1301635888
|
0.00001
|
|
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met)
|
rs151309106
|
0.00001
|
|
NM_004415.4(DSP):c.8050A>G (p.Met2684Val)
|
rs147801650
|
0.00001
|
|
NM_004415.4(DSP):c.8087T>C (p.Ile2696Thr)
|
rs1415854040
|
0.00001
|
|
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp)
|
rs375348086
|
0.00001
|
|
NM_004415.4(DSP):c.8159A>T (p.Tyr2720Phe)
|
rs367972703
|
0.00001
|
|
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr)
|
rs991726607
|
0.00001
|
|
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys)
|
rs139969658
|
0.00001
|
|
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys)
|
rs767961179
|
0.00001
|
|
NM_004415.4(DSP):c.8529T>C (p.Ser2843=)
|
rs780005300
|
0.00001
|
|
NM_004415.4(DSP):c.8566T>A (p.Ser2856Thr)
|
rs148550678
|
0.00001
|
|
NM_004415.4(DSP):c.946A>G (p.Met316Val)
|
rs201672777
|
0.00001
|
|
NM_004415.4(DSP):c.976C>T (p.Leu326Phe)
|
rs117961973
|
0.00001
|
|
NM_004415.4(DSP):c.9C>T (p.Cys3=)
|
rs769032973
|
0.00001
|
|
NM_004453.4(ETFDH):c.12G>A (p.Pro4=)
|
rs373776053
|
0.00001
|
|
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=)
|
rs754795292
|
0.00001
|
|
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=)
|
rs1408118210
|
0.00001
|
|
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=)
|
rs747312700
|
0.00001
|
|
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=)
|
rs755342205
|
0.00001
|
|
NM_004453.4(ETFDH):c.414T>G (p.Leu138=)
|
rs751256504
|
0.00001
|
|
NM_004482.4(GALNT3):c.591G>A (p.Ala197=)
|
rs766232837
|
0.00001
|
|
NM_004525.3(LRP2):c.2599A>G (p.Thr867Ala)
|
rs143822500
|
0.00001
|
|
NM_004553.6(NDUFS6):c.133-4C>T
|
rs754448417
|
0.00001
|
|
NM_004560.4(ROR2):c.1054A>G (p.Ser352Gly)
|
rs569242465
|
0.00001
|
|
NM_004563.4(PCK2):c.150C>T (p.His50=)
|
rs754970464
|
0.00001
|
|
NM_004608.4(TBX6):c.298C>T (p.Leu100=)
|
rs759383268
|
0.00001
|
|
NM_004612.4(TGFBR1):c.97+14C>T
|
rs1198082830
|
0.00001
|
|
NM_004629.2(FANCG):c.1662G>A (p.Leu554=)
|
rs750982155
|
0.00001
|
|
NM_004655.4(AXIN2):c.1713C>T (p.Gly571=)
|
rs761978806
|
0.00001
|
|
NM_004655.4(AXIN2):c.2100C>T (p.Ala700=)
|
rs1057522521
|
0.00001
|
|
NM_004656.4(BAP1):c.177G>A (p.Arg59=)
|
rs770446947
|
0.00001
|
|
NM_004656.4(BAP1):c.581-4C>T
|
rs1578225974
|
0.00001
|
|
NM_004656.4(BAP1):c.581-6C>T
|
rs754576458
|
0.00001
|
|
NM_004700.4(KCNQ4):c.2006A>G (p.His669Arg)
|
rs749565877
|
0.00001
|
|
NM_004817.4(TJP2):c.1056+8G>C
|
rs779964139
|
0.00001
|
|
NM_004817.4(TJP2):c.2239T>C (p.Leu747=)
|
rs886043789
|
0.00001
|
|
NM_004817.4(TJP2):c.3372G>A (p.Thr1124=)
|
rs745427593
|
0.00001
|
|
NM_004817.4(TJP2):c.3522C>G (p.Ser1174=)
|
rs761272308
|
0.00001
|
|
NM_004817.4(TJP2):c.966G>T (p.Arg322=)
|
rs199857597
|
0.00001
|
|
NM_004820.5(CYP7B1):c.339A>G (p.Val113=)
|
rs770923196
|
0.00001
|
|
NM_004820.5(CYP7B1):c.999A>G (p.Lys333=)
|
rs746555297
|
0.00001
|
|
NM_004836.7(EIF2AK3):c.270G>C (p.Pro90=)
|
rs762693700
|
0.00001
|
|
NM_004839.4(HOMER2):c.33G>A (p.Ala11=)
|
rs201522712
|
0.00001
|
|
NM_004937.3(CTNS):c.270A>T (p.Thr90=)
|
rs754247532
|
0.00001
|
|
NM_004937.3(CTNS):c.897T>C (p.Ile299=)
|
rs199824920
|
0.00001
|
|
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His)
|
rs1023010218
|
0.00001
|
|
NM_004958.4(MTOR):c.3405G>A (p.Ala1135=)
|
rs750981339
|
0.00001
|
|
NM_004958.4(MTOR):c.6107G>A (p.Arg2036His)
|
rs1642913016
|
0.00001
|
|
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr)
|
rs1447311755
|
0.00001
|
|
NM_004975.4(KCNB1):c.1963G>A (p.Glu655Lys)
|
rs769948178
|
0.00001
|
|
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val)
|
rs121434444
|
0.00001
|
|
NM_004984.4(KIF5A):c.1311A>G (p.Gln437=)
|
rs770297402
|
0.00001
|
|
NM_004984.4(KIF5A):c.2183T>C (p.Ile728Thr)
|
rs757751684
|
0.00001
|
|
NM_004984.4(KIF5A):c.2546G>A (p.Arg849His)
|
rs765503816
|
0.00001
|
|
NM_004984.4(KIF5A):c.2993-6C>T
|
rs1057522322
|
0.00001
|
|
NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu)
|
rs751496558
|
0.00001
|
|
NM_005045.4(RELN):c.1480A>G (p.Ile494Val)
|
rs372015884
|
0.00001
|
|
NM_005045.4(RELN):c.1796G>A (p.Arg599His)
|
rs201371180
|
0.00001
|
|
NM_005045.4(RELN):c.1913C>T (p.Pro638Leu)
|
rs114993407
|
0.00001
|
|
NM_005045.4(RELN):c.4441A>G (p.Lys1481Glu)
|
rs896069835
|
0.00001
|
|
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly)
|
rs587780439
|
0.00001
|
|
NM_005045.4(RELN):c.5300G>A (p.Gly1767Glu)
|
rs766384576
|
0.00001
|
|
NM_005045.4(RELN):c.589A>G (p.Ser197Gly)
|
rs756193988
|
0.00001
|
|
NM_005045.4(RELN):c.6164T>C (p.Leu2055Pro)
|
rs1190177632
|
0.00001
|
|
NM_005045.4(RELN):c.9016A>C (p.Ile3006Leu)
|
rs755660948
|
0.00001
|
|
NM_005045.4(RELN):c.9281A>G (p.Tyr3094Cys)
|
rs750252271
|
0.00001
|
|
NM_005198.5(CHKB):c.1031+12G>A
|
rs777277938
|
0.00001
|
|
NM_005198.5(CHKB):c.1114-6C>T
|
rs151123092
|
0.00001
|
|
NM_005198.5(CHKB):c.234C>G (p.Leu78=)
|
rs929019284
|
0.00001
|
|
NM_005198.5(CHKB):c.678-12A>G
|
rs749813559
|
0.00001
|
|
NM_005199.5(CHRNG):c.806-7T>C
|
rs773463683
|
0.00001
|
|
NM_005228.5(EGFR):c.2172C>T (p.Gly724=)
|
rs754578411
|
0.00001
|
|
NM_005228.5(EGFR):c.2224G>A (p.Val742Ile)
|
rs587778250
|
0.00001
|
|
NM_005228.5(EGFR):c.3143C>T (p.Ala1048Val)
|
rs78244461
|
0.00001
|
|
NM_005249.5(FOXG1):c.1058A>G (p.Asn353Ser)
|
rs749879411
|
0.00001
|
|
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=)
|
rs774771496
|
0.00001
|
|
NM_005327.7(HADH):c.159A>G (p.Val53=)
|
rs148846625
|
0.00001
|
|
NM_005327.7(HADH):c.72G>A (p.Lys24=)
|
rs781319494
|
0.00001
|
|
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
|
rs781783048
|
0.00001
|
|
NM_005422.4(TECTA):c.5372C>G (p.Pro1791Arg)
|
rs754213928
|
0.00001
|
|
NM_005428.4(VAV1):c.381-8C>A
|
rs780032946
|
0.00001
|
|
NM_005431.2(XRCC2):c.828G>A (p.Gly276=)
|
rs1590129146
|
0.00001
|
|
NM_005445.4(SMC3):c.2163C>T (p.Ile721=)
|
rs1193209124
|
0.00001
|
|
NM_005458.8(GABBR2):c.1924C>T (p.Arg642Cys)
|
rs756391068
|
0.00001
|
|
NM_005458.8(GABBR2):c.2412+3A>G
|
rs74429712
|
0.00001
|
|
NM_005502.4(ABCA1):c.2301G>T (p.Trp767Cys)
|
rs780611537
|
0.00001
|
|
NM_005529.7(HSPG2):c.2664C>T (p.Ser888=)
|
rs560919408
|
0.00001
|
|
NM_005529.7(HSPG2):c.3747C>T (p.Cys1249=)
|
rs886042933
|
0.00001
|
|
NM_005529.7(HSPG2):c.8199A>G (p.Ser2733=)
|
rs886044168
|
0.00001
|
|
NM_005535.3(IL12RB1):c.1197C>T (p.Tyr399=)
|
rs761731702
|
0.00001
|
|
NM_005546.4(ITK):c.1060+12A>C
|
rs765303299
|
0.00001
|
|
NM_005559.4(LAMA1):c.7051-9T>A
|
rs1472738373
|
0.00001
|
|
NM_005566.4(LDHA):c.222A>G (p.Thr74=)
|
rs201254300
|
0.00001
|
|
NM_005566.4(LDHA):c.285G>A (p.Thr95=)
|
rs202160072
|
0.00001
|
|
NM_005591.4(MRE11):c.1074A>G (p.Pro358=)
|
rs876659934
|
0.00001
|
|
NM_005591.4(MRE11):c.1225+10T>G
|
rs863224734
|
0.00001
|
|
NM_005591.4(MRE11):c.1275A>C (p.Thr425=)
|
rs749712745
|
0.00001
|
|
NM_005591.4(MRE11):c.1783+10G>C
|
rs864622589
|
0.00001
|
|
NM_005591.4(MRE11):c.20+8C>A
|
rs766581183
|
0.00001
|
|
NM_005609.4(PYGM):c.1011G>A (p.Gln337=)
|
rs767039732
|
0.00001
|
|
NM_005609.4(PYGM):c.1092+15C>T
|
rs1319046232
|
0.00001
|
|
NM_005609.4(PYGM):c.2082C>T (p.Asp694=)
|
rs773543072
|
0.00001
|
|
NM_005609.4(PYGM):c.2322C>T (p.Val774=)
|
rs1045215677
|
0.00001
|
|
NM_005609.4(PYGM):c.256C>T (p.Leu86=)
|
rs541817643
|
0.00001
|
|
NM_005619.5(RTN2):c.79+6T>A
|
rs749104931
|
0.00001
|
|
NM_005629.4(SLC6A8):c.54G>C (p.Lys18Asn)
|
rs1261794545
|
0.00001
|
|
NM_005708.5(GPC6):c.930G>A (p.Ser310=)
|
rs754858999
|
0.00001
|
|
NM_005726.6(TSFM):c.978G>A (p.Ter326=)
|
rs766301009
|
0.00001
|
|
NM_005732.4(RAD50):c.1052-5A>T
|
rs778261497
|
0.00001
|
|
NM_005732.4(RAD50):c.123A>T (p.Gly41=)
|
rs754054728
|
0.00001
|
|
NM_005732.4(RAD50):c.2092A>G (p.Ile698Val)
|
rs781213977
|
0.00001
|
|
NM_005732.4(RAD50):c.2207+3A>G
|
rs781305309
|
0.00001
|
|
NM_005732.4(RAD50):c.2566C>A (p.Gln856Lys)
|
rs760006536
|
0.00001
|
|
NM_005732.4(RAD50):c.3164+3A>G
|
rs1275882210
|
0.00001
|
|
NM_005732.4(RAD50):c.3466C>T (p.Arg1156Cys)
|
rs535261113
|
0.00001
|
|
NM_005732.4(RAD50):c.3497G>T (p.Arg1166Leu)
|
rs763145238
|
0.00001
|
|
NM_005732.4(RAD50):c.3752+3A>G
|
rs864622704
|
0.00001
|
|
NM_005732.4(RAD50):c.3753-4G>T
|
rs775426160
|
0.00001
|
|
NM_005732.4(RAD50):c.885+5G>A
|
rs200264387
|
0.00001
|
|
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile)
|
rs568371168
|
0.00001
|
|
NM_005787.6(ALG3):c.66G>A (p.Lys22=)
|
rs778269575
|
0.00001
|
|
NM_005787.6(ALG3):c.696C>T (p.Leu232=)
|
rs1174962210
|
0.00001
|
|
NM_005902.4(SMAD3):c.1010-10T>C
|
rs1179340088
|
0.00001
|
|
NM_005902.4(SMAD3):c.597C>T (p.Ser199=)
|
rs769225687
|
0.00001
|
|
NM_005902.4(SMAD3):c.613C>T (p.Pro205Ser)
|
rs150682850
|
0.00001
|
|
NM_005902.4(SMAD3):c.798G>A (p.Ser266=)
|
rs761391442
|
0.00001
|
|
NM_005908.4(MANBA):c.1112+8A>C
|
rs752741187
|
0.00001
|
|
NM_005908.4(MANBA):c.111G>T (p.Ser37=)
|
rs927918838
|
0.00001
|
|
NM_005908.4(MANBA):c.1746A>T (p.Ser582=)
|
rs1730293546
|
0.00001
|
|
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=)
|
rs180816849
|
0.00001
|
|
NM_005957.5(MTHFR):c.1002G>A (p.Lys334=)
|
rs147727428
|
0.00001
|
|
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu)
|
rs149865710
|
0.00001
|
|
NM_006005.3(WFS1):c.1416C>A (p.Pro472=)
|
rs530734300
|
0.00001
|
|
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys)
|
rs201078003
|
0.00001
|
|
NM_006005.3(WFS1):c.2413C>T (p.Arg805Trp)
|
rs763107032
|
0.00001
|
|
NM_006005.3(WFS1):c.2454C>T (p.Arg818=)
|
rs139223980
|
0.00001
|
|
NM_006005.3(WFS1):c.693G>A (p.Glu231=)
|
rs149479911
|
0.00001
|
|
NM_006005.3(WFS1):c.804C>T (p.Asp268=)
|
rs199741678
|
0.00001
|
|
NM_006015.6(ARID1A):c.2512G>A (p.Gly838Arg)
|
rs753334968
|
0.00001
|
|
NM_006017.3(PROM1):c.1320C>T (p.Val440=)
|
rs765602610
|
0.00001
|
|
NM_006017.3(PROM1):c.677C>T (p.Ala226Val)
|
rs376198840
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1583G>C (p.Ser528Thr)
|
rs555362865
|
0.00001
|
|
NM_006019.4(TCIRG1):c.60G>A (p.Ala20=)
|
rs111424326
|
0.00001
|
|
NM_006031.6(PCNT):c.1457-9dup
|
rs1486232846
|
0.00001
|
|
NM_006031.6(PCNT):c.1593G>A (p.Glu531=)
|
rs767430243
|
0.00001
|
|
NM_006031.6(PCNT):c.4585-3T>C
|
rs777059690
|
0.00001
|
|
NM_006031.6(PCNT):c.7104T>C (p.Pro2368=)
|
rs576187743
|
0.00001
|
|
NM_006031.6(PCNT):c.7950C>T (p.Ala2650=)
|
rs777255057
|
0.00001
|
|
NM_006031.6(PCNT):c.9090C>T (p.Thr3030=)
|
rs942925965
|
0.00001
|
|
NM_006059.4(LAMC3):c.4031-10G>A
|
rs555619019
|
0.00001
|
|
NM_006059.4(LAMC3):c.4031-4G>A
|
rs765657893
|
0.00001
|
|
NM_006059.4(LAMC3):c.4698C>T (p.Ser1566=)
|
rs754122699
|
0.00001
|
|
NM_006086.4(TUBB3):c.1206C>T (p.Gly402=)
|
rs757192357
|
0.00001
|
|
NM_006086.4(TUBB3):c.210C>T (p.Pro70=)
|
rs754683361
|
0.00001
|
|
NM_006096.4(NDRG1):c.591G>A (p.Gly197=)
|
rs377257830
|
0.00001
|
|
NM_006096.4(NDRG1):c.766C>T (p.Leu256=)
|
rs898573925
|
0.00001
|
|
NM_006096.4(NDRG1):c.855+14_855+15del
|
rs780070007
|
0.00001
|
|
NM_006118.4(HAX1):c.36C>G (p.Gly12=)
|
rs201477841
|
0.00001
|
|
NM_006118.4(HAX1):c.798C>T (p.Ser266=)
|
rs762492730
|
0.00001
|
|
NM_006129.5(BMP1):c.2745C>T (p.Thr915=)
|
rs374251317
|
0.00001
|
|
NM_006206.6(PDGFRA):c.1122-6T>A
|
rs754623338
|
0.00001
|
|
NM_006206.6(PDGFRA):c.1794C>T (p.Val598=)
|
rs1218651787
|
0.00001
|
|
NM_006206.6(PDGFRA):c.2003-7C>T
|
rs886059447
|
0.00001
|
|
NM_006206.6(PDGFRA):c.2232C>T (p.Pro744=)
|
rs1060504254
|
0.00001
|
|
NM_006206.6(PDGFRA):c.2881-8G>A
|
rs778161572
|
0.00001
|
|
NM_006206.6(PDGFRA):c.345G>A (p.Arg115=)
|
rs778510648
|
0.00001
|
|
NM_006231.4(POLE):c.1227-4C>T
|
rs1200122093
|
0.00001
|
|
NM_006231.4(POLE):c.1308C>T (p.Pro436=)
|
rs755627156
|
0.00001
|
|
NM_006231.4(POLE):c.1608T>C (p.Ser536=)
|
rs763078534
|
0.00001
|
|
NM_006231.4(POLE):c.2540G>A (p.Arg847Gln)
|
rs534297483
|
0.00001
|
|
NM_006231.4(POLE):c.2706+10G>A
|
rs372609836
|
0.00001
|
|
NM_006231.4(POLE):c.2706+5G>A
|
rs375931088
|
0.00001
|
|
NM_006231.4(POLE):c.2707-9G>A
|
rs1057521516
|
0.00001
|
|
NM_006231.4(POLE):c.2964G>A (p.Ser988=)
|
rs200080353
|
0.00001
|
|
NM_006231.4(POLE):c.3061-4C>G
|
rs201517516
|
0.00001
|
|
NM_006231.4(POLE):c.3582+6G>A
|
rs113307290
|
0.00001
|
|
NM_006231.4(POLE):c.369G>A (p.Lys123=)
|
rs1328407908
|
0.00001
|
|
NM_006231.4(POLE):c.391G>T (p.Val131Leu)
|
rs745601745
|
0.00001
|
|
NM_006231.4(POLE):c.4445-7T>C
|
rs754001064
|
0.00001
|
|
NM_006231.4(POLE):c.4490A>G (p.Lys1497Arg)
|
rs557957962
|
0.00001
|
|
NM_006231.4(POLE):c.4952+5G>A
|
rs1555222548
|
0.00001
|
|
NM_006231.4(POLE):c.5340C>T (p.Ala1780=)
|
rs1291600656
|
0.00001
|
|
NM_006231.4(POLE):c.5454G>A (p.Val1818=)
|
rs1046972573
|
0.00001
|
|
NM_006231.4(POLE):c.5562T>C (p.Ala1854=)
|
rs1174721130
|
0.00001
|
|
NM_006231.4(POLE):c.6631C>T (p.Leu2211=)
|
rs769635764
|
0.00001
|
|
NM_006231.4(POLE):c.6646C>T (p.Leu2216=)
|
rs1220762553
|
0.00001
|
|
NM_006231.4(POLE):c.6748-6C>T
|
rs750255126
|
0.00001
|
|
NM_006231.4(POLE):c.90G>A (p.Ser30=)
|
rs369224511
|
0.00001
|
|
NM_006231.4(POLE):c.910-13T>C
|
rs759098283
|
0.00001
|
|
NM_006231.4(POLE):c.942A>C (p.Ser314=)
|
rs548933169
|
0.00001
|
|
NM_006231.4(POLE):c.94C>T (p.Leu32Phe)
|
rs781513537
|
0.00001
|
|
NM_006258.4(PRKG1):c.75C>A (p.Ile25=)
|
rs776048746
|
0.00001
|
|
NM_006261.5(PROP1):c.456T>C (p.Ala152=)
|
rs758911793
|
0.00001
|
|
NM_006265.3(RAD21):c.1349G>A (p.Arg450His)
|
rs1051321465
|
0.00001
|
|
NM_006306.4(SMC1A):c.1911+7A>G
|
rs2075687773
|
0.00001
|
|
NM_006306.4(SMC1A):c.1917G>A (p.Val639=)
|
rs782292864
|
0.00001
|
|
NM_006306.4(SMC1A):c.285C>G (p.Ala95=)
|
rs587784414
|
0.00001
|
|
NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=)
|
rs587784417
|
0.00001
|
|
NM_006343.3(MERTK):c.1938C>T (p.His646=)
|
rs1309440527
|
0.00001
|
|
NM_006343.3(MERTK):c.584-5C>T
|
rs747835003
|
0.00001
|
|
NM_006348.5(COG5):c.538+10T>G
|
rs769195866
|
0.00001
|
|
NM_006348.5(COG5):c.836-9C>T
|
rs757452204
|
0.00001
|
|
NM_006371.5(CRTAP):c.528T>G (p.Pro176=)
|
rs774680682
|
0.00001
|
|
NM_006397.3(RNASEH2A):c.285G>A (p.Val95=)
|
rs374650162
|
0.00001
|
|
NM_006397.3(RNASEH2A):c.516C>T (p.Tyr172=)
|
rs1415211346
|
0.00001
|
|
NM_006397.3(RNASEH2A):c.637+8G>A
|
rs757139110
|
0.00001
|
|
NM_006397.3(RNASEH2A):c.762-13C>G
|
rs781591228
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.2406G>A (p.Arg802=)
|
rs756651881
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.4557C>T (p.Pro1519=)
|
rs797045258
|
0.00001
|
|
NM_006432.5(NPC2):c.240C>T (p.Gly80=)
|
rs773836291
|
0.00001
|
|
NM_006432.5(NPC2):c.414C>A (p.Leu138=)
|
rs1323196897
|
0.00001
|
|
NM_006506.5(RASA2):c.133+10G>A
|
rs775544477
|
0.00001
|
|
NM_006506.5(RASA2):c.2329+7A>G
|
rs1444704196
|
0.00001
|
|
NM_006514.4(SCN10A):c.2658C>T (p.Ile886=)
|
rs148963942
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1446G>C (p.Leu482=)
|
rs794726996
|
0.00001
|
|
NM_006516.4(SLC2A1):c.19-4G>A
|
rs398124229
|
0.00001
|
|
NM_006516.4(SLC2A1):c.192C>G (p.Leu64=)
|
rs762583668
|
0.00001
|
|
NM_006623.4(PHGDH):c.129G>A (p.Ala43=)
|
rs587623477
|
0.00001
|
|
NM_006662.3(SRCAP):c.3484C>T (p.Pro1162Ser)
|
rs753700157
|
0.00001
|
|
NM_006757.4(TNNT3):c.690G>A (p.Thr230=)
|
rs753756081
|
0.00001
|
|
NM_006766.5(KAT6A):c.2689G>C (p.Glu897Gln)
|
rs1367238054
|
0.00001
|
|
NM_006766.5(KAT6A):c.5630G>A (p.Arg1877His)
|
rs1308362424
|
0.00001
|
|
NM_006766.5(KAT6A):c.5666G>A (p.Arg1889His)
|
rs1342950357
|
0.00001
|
|
NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly)
|
rs900174205
|
0.00001
|
|
NM_006767.4(LZTR1):c.1260+11T>A
|
rs1298556569
|
0.00001
|
|
NM_006767.4(LZTR1):c.2070-8G>T
|
rs768003361
|
0.00001
|
|
NM_006767.4(LZTR1):c.2310G>A (p.Val770=)
|
rs1226268646
|
0.00001
|
|
NM_006790.3(MYOT):c.1222T>C (p.Leu408=)
|
rs886059968
|
0.00001
|
|
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly)
|
rs727504026
|
0.00001
|
|
NM_006892.4(DNMT3B):c.132G>A (p.Pro44=)
|
rs138805251
|
0.00001
|
|
NM_006892.4(DNMT3B):c.1490+8C>G
|
rs746731138
|
0.00001
|
|
NM_006892.4(DNMT3B):c.895C>A (p.Arg299=)
|
rs201067137
|
0.00001
|
|
NM_006904.7(PRKDC):c.7080T>C (p.Phe2360=)
|
rs1463023336
|
0.00001
|
|
NM_006904.7(PRKDC):c.7371C>T (p.Pro2457=)
|
rs1037182844
|
0.00001
|
|
NM_006904.7(PRKDC):c.7812G>A (p.Pro2604=)
|
rs763035246
|
0.00001
|
|
NM_006922.4(SCN3A):c.1840C>G (p.Pro614Ala)
|
rs868728039
|
0.00001
|
|
NM_006922.4(SCN3A):c.1855G>A (p.Glu619Lys)
|
rs577018955
|
0.00001
|
|
NM_006922.4(SCN3A):c.3387C>A (p.Ser1129Arg)
|
rs774375940
|
0.00001
|
|
NM_006922.4(SCN3A):c.4121A>T (p.Asp1374Val)
|
rs377507565
|
0.00001
|
|
NM_006939.4(SOS2):c.2161+10A>G
|
rs201629454
|
0.00001
|
|
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly)
|
rs779464455
|
0.00001
|
|
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr)
|
rs201756168
|
0.00001
|
|
NM_006939.4(SOS2):c.374A>T (p.His125Leu)
|
rs777300218
|
0.00001
|
|
NM_006939.4(SOS2):c.3782C>G (p.Thr1261Ser)
|
rs780772018
|
0.00001
|
|
NM_006939.4(SOS2):c.3815G>A (p.Arg1272His)
|
rs200104745
|
0.00001
|
|
NM_006941.4(SOX10):c.981C>A (p.Ala327=)
|
rs949765986
|
0.00001
|
|
NM_006946.4(SPTBN2):c.2006C>T (p.Thr669Met)
|
rs775522542
|
0.00001
|
|
NM_006946.4(SPTBN2):c.3037G>A (p.Ala1013Thr)
|
rs148016656
|
0.00001
|
|
NM_006946.4(SPTBN2):c.4833G>C (p.Met1611Ile)
|
rs1328577241
|
0.00001
|
|
NM_006946.4(SPTBN2):c.6265A>T (p.Arg2089Trp)
|
rs890981545
|
0.00001
|
|
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met)
|
rs750623875
|
0.00001
|
|
NM_006946.4(SPTBN2):c.913C>T (p.Arg305Cys)
|
rs372293906
|
0.00001
|
|
NM_006949.4(STXBP2):c.1230C>T (p.Tyr410=)
|
rs771186417
|
0.00001
|
|
NM_006949.4(STXBP2):c.169+11G>C
|
rs756350869
|
0.00001
|
|
NM_006996.3(SLC19A2):c.104C>T (p.Ala35Val)
|
rs756487822
|
0.00001
|
|
NM_007078.3(LDB3):c.723C>T (p.Ser241=)
|
rs200580597
|
0.00001
|
|
NM_007175.8(ERLIN2):c.589G>A (p.Ala197Thr)
|
rs149254654
|
0.00001
|
|
NM_007194.4(CHEK2):c.1009-7T>G
|
rs763174055
|
0.00001
|
|
NM_007194.4(CHEK2):c.1096-4T>C
|
rs587782840
|
0.00001
|
|
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)
|
rs17883172
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+3A>G
|
rs587781279
|
0.00001
|
|
NM_007259.5(VPS45):c.201G>A (p.Lys67=)
|
rs782546296
|
0.00001
|
|
NM_007272.3(CTRC):c.230+7G>A
|
rs754126755
|
0.00001
|
|
NM_007272.3(CTRC):c.369C>T (p.Ala123=)
|
rs749606141
|
0.00001
|
|
NM_007272.3(CTRC):c.595A>T (p.Thr199Ser)
|
rs751977111
|
0.00001
|
|
NM_007289.4(MME):c.1590G>A (p.Val530=)
|
rs1209332250
|
0.00001
|
|
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)
|
rs80357084
|
0.00001
|
|
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile)
|
rs80357228
|
0.00001
|
|
NM_007294.4(BRCA1):c.3800T>C (p.Leu1267Ser)
|
rs587782190
|
0.00001
|
|
NM_007294.4(BRCA1):c.441+8C>T
|
rs756130118
|
0.00001
|
|
NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr)
|
rs80357061
|
0.00001
|
|
NM_007294.4(BRCA1):c.755G>A (p.Arg252His)
|
rs80357138
|
0.00001
|
|
NM_007317.3(KIF22):c.496C>T (p.Arg166Trp)
|
rs767054899
|
0.00001
|
|
NM_007325.5(GRIA3):c.328A>G (p.Met110Val)
|
rs756957362
|
0.00001
|
|
NM_007327.4(GRIN1):c.957G>A (p.Pro319=)
|
rs766888803
|
0.00001
|
|
NM_007347.5(AP4E1):c.1458A>G (p.Gln486=)
|
rs557252541
|
0.00001
|
|
NM_007363.5(NONO):c.1172-11_1172-9del
|
rs759524596
|
0.00001
|
|
NM_012062.5(DNM1L):c.198A>G (p.Gln66=)
|
rs764711165
|
0.00001
|
|
NM_012144.4(DNAI1):c.1395C>T (p.Leu465=)
|
rs764446899
|
0.00001
|
|
NM_012144.4(DNAI1):c.1665C>T (p.Val555=)
|
rs147469181
|
0.00001
|
|
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=)
|
rs1022057422
|
0.00001
|
|
NM_012144.4(DNAI1):c.902-8T>C
|
rs755259202
|
0.00001
|
|
NM_012179.4(FBXO7):c.1527C>A (p.Pro509=)
|
rs758609287
|
0.00001
|
|
NM_012179.4(FBXO7):c.447G>A (p.Glu149=)
|
rs1012166328
|
0.00001
|
|
NM_012193.4(FZD4):c.729C>T (p.Ile243=)
|
rs560649393
|
0.00001
|
|
NM_012243.3(SLC35A3):c.606A>G (p.Gln202=)
|
rs370227291
|
0.00001
|
|
NM_012254.3(SLC27A5):c.1182+7C>T
|
rs376013474
|
0.00001
|
|
NM_012275.3(IL36RN):c.333C>T (p.Phe111=)
|
rs199824136
|
0.00001
|
|
NM_012301.4(MAGI2):c.1425T>C (p.Tyr475=)
|
rs148086431
|
0.00001
|
|
NM_012418.4(FSCN2):c.1274-6C>T
|
rs1048819854
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=)
|
rs374241516
|
0.00001
|
|
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=)
|
rs924683894
|
0.00001
|
|
NM_012470.4(TNPO3):c.2545A>G (p.Thr849Ala)
|
rs566110160
|
0.00001
|
|
NM_012470.4(TNPO3):c.856C>T (p.Arg286Cys)
|
rs745576236
|
0.00001
|
|
NM_013339.4(ALG6):c.430-9T>G
|
rs769256352
|
0.00001
|
|
NM_013339.4(ALG6):c.648C>G (p.Gly216=)
|
rs1270440540
|
0.00001
|
|
NM_013444.4(UBQLN2):c.243A>G (p.Leu81=)
|
rs778382794
|
0.00001
|
|
NM_014000.3(VCL):c.1543+8C>G
|
rs886047218
|
0.00001
|
|
NM_014000.3(VCL):c.3186G>A (p.Gln1062=)
|
rs761534024
|
0.00001
|
|
NM_014000.3(VCL):c.36C>T (p.Ile12=)
|
rs774195260
|
0.00001
|
|
NM_014014.5(SNRNP200):c.3354C>T (p.Ile1118=)
|
rs376352502
|
0.00001
|
|
NM_014049.5(ACAD9):c.1635C>T (p.Ala545=)
|
rs754646501
|
0.00001
|
|
NM_014053.4(FLVCR1):c.501G>A (p.Leu167=)
|
rs886043715
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.1360C>T (p.Leu454=)
|
rs753714268
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.1374C>T (p.Asp458=)
|
rs200566186
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=)
|
rs752241342
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.2316A>G (p.Gln772=)
|
rs1322248626
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.780A>G (p.Ala260=)
|
rs1288231534
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.3476-7C>T
|
rs1057520468
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.3651G>A (p.Ser1217=)
|
rs377455159
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.687A>G (p.Glu229=)
|
rs767033703
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.87C>T (p.Pro29=)
|
rs886062049
|
0.00001
|
|
NM_014159.7(SETD2):c.1849C>T (p.Pro617Ser)
|
rs372521251
|
0.00001
|
|
NM_014225.6(PPP2R1A):c.489G>T (p.Lys163Asn)
|
rs1474301500
|
0.00001
|
|
NM_014225.6(PPP2R1A):c.78+7A>C
|
rs1240197556
|
0.00001
|
|
NM_014239.4(EIF2B2):c.165G>A (p.Gly55=)
|
rs1365390122
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1278C>T (p.Gly426=)
|
rs746088783
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1413C>T (p.Phe471=)
|
rs751565994
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1428G>A (p.Pro476=)
|
rs374288519
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2290+15C>T
|
rs764259203
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2688C>T (p.Ala896=)
|
rs370747086
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2727C>T (p.Asn909=)
|
rs151261888
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2811G>A (p.Val937=)
|
rs557019144
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2958+14C>T
|
rs755961602
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3089-7C>A
|
rs760424301
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3351C>T (p.Asp1117=)
|
rs777279065
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.669G>T (p.Gly223=)
|
rs886060495
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.819C>T (p.Gly273=)
|
rs751895494
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.996C>T (p.Ile332=)
|
rs767485549
|
0.00001
|
|
NM_014252.4(SLC25A15):c.225C>T (p.Ile75=)
|
rs765380976
|
0.00001
|
|
NM_014290.3(TDRD7):c.2955A>G (p.Gly985=)
|
rs201216195
|
0.00001
|
|
NM_014297.5(ETHE1):c.489G>A (p.Arg163=)
|
rs533076307
|
0.00001
|
|
NM_014324.6(AMACR):c.366C>T (p.His122=)
|
rs775128044
|
0.00001
|
|
NM_014324.6(AMACR):c.48G>A (p.Pro16=)
|
rs144271819
|
0.00001
|
|
NM_014336.5(AIPL1):c.33G>C (p.Gly11=)
|
rs369223841
|
0.00001
|
|
NM_014336.5(AIPL1):c.645G>A (p.Glu215=)
|
rs1297434866
|
0.00001
|
|
NM_014336.5(AIPL1):c.939G>A (p.Ala313=)
|
rs200401166
|
0.00001
|
|
NM_014339.7(IL17RA):c.1045+7G>A
|
rs572837622
|
0.00001
|
|
NM_014339.7(IL17RA):c.1347C>T (p.Arg449=)
|
rs781731675
|
0.00001
|
|
NM_014339.7(IL17RA):c.1928G>A (p.Gly643Glu)
|
rs559058243
|
0.00001
|
|
NM_014339.7(IL17RA):c.36G>T (p.Pro12=)
|
rs886057200
|
0.00001
|
|
NM_014363.6(SACS):c.11887A>G (p.Met3963Val)
|
rs375613914
|
0.00001
|
|
NM_014363.6(SACS):c.13269A>T (p.Ser4423=)
|
rs1180908312
|
0.00001
|
|
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg)
|
rs754693143
|
0.00001
|
|
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn)
|
rs138328181
|
0.00001
|
|
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)
|
rs200437752
|
0.00001
|
|
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln)
|
rs368944813
|
0.00001
|
|
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu)
|
rs762821420
|
0.00001
|
|
NM_014363.6(SACS):c.2509C>T (p.Pro837Ser)
|
rs769153924
|
0.00001
|
|
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)
|
rs776290829
|
0.00001
|
|
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser)
|
rs370103461
|
0.00001
|
|
NM_014363.6(SACS):c.3017A>G (p.His1006Arg)
|
rs368149368
|
0.00001
|
|
NM_014363.6(SACS):c.3060A>G (p.Leu1020=)
|
rs746764976
|
0.00001
|
|
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)
|
rs1443000762
|
0.00001
|
|
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala)
|
rs1230237404
|
0.00001
|
|
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val)
|
rs544249449
|
0.00001
|
|
NM_014363.6(SACS):c.47G>T (p.Gly16Val)
|
rs886050090
|
0.00001
|
|
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)
|
rs771080306
|
0.00001
|
|
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn)
|
rs774163551
|
0.00001
|
|
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys)
|
rs1269546947
|
0.00001
|
|
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met)
|
rs368494148
|
0.00001
|
|
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn)
|
rs370902090
|
0.00001
|
|
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile)
|
rs373812430
|
0.00001
|
|
NM_014363.6(SACS):c.6235T>C (p.Phe2079Leu)
|
rs1364796862
|
0.00001
|
|
NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly)
|
rs762352013
|
0.00001
|
|
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)
|
rs1007936574
|
0.00001
|
|
NM_014363.6(SACS):c.8133G>A (p.Ser2711=)
|
rs143386746
|
0.00001
|
|
NM_014363.6(SACS):c.8166G>T (p.Met2722Ile)
|
rs1327898921
|
0.00001
|
|
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)
|
rs772742353
|
0.00001
|
|
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg)
|
rs758654165
|
0.00001
|
|
NM_014363.6(SACS):c.9292A>G (p.Ile3098Val)
|
rs745664974
|
0.00001
|
|
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys)
|
rs776143384
|
0.00001
|
|
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr)
|
rs765635417
|
0.00001
|
|
NM_014391.3(ANKRD1):c.256G>C (p.Asp86His)
|
rs573892607
|
0.00001
|
|
NM_014425.5(INVS):c.1317C>T (p.Cys439=)
|
rs886063266
|
0.00001
|
|
NM_014585.6(SLC40A1):c.306A>G (p.Ser102=)
|
rs201485374
|
0.00001
|
|
NM_014585.6(SLC40A1):c.546G>A (p.Gln182=)
|
rs104893670
|
0.00001
|
|
NM_014714.4(IFT140):c.1452G>A (p.Thr484=)
|
rs914258252
|
0.00001
|
|
NM_014714.4(IFT140):c.1872G>A (p.Thr624=)
|
rs775156902
|
0.00001
|
|
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln)
|
rs766316995
|
0.00001
|
|
NM_014714.4(IFT140):c.298C>G (p.Leu100Val)
|
rs546498421
|
0.00001
|
|
NM_014714.4(IFT140):c.3402C>T (p.Ile1134=)
|
rs761692949
|
0.00001
|
|
NM_014714.4(IFT140):c.3501C>T (p.Thr1167=)
|
rs377319314
|
0.00001
|
|
NM_014714.4(IFT140):c.3525C>G (p.Thr1175=)
|
rs752664070
|
0.00001
|
|
NM_014714.4(IFT140):c.36G>A (p.Pro12=)
|
rs574028286
|
0.00001
|
|
NM_014714.4(IFT140):c.4026C>T (p.Phe1342=)
|
rs776522454
|
0.00001
|
|
NM_014714.4(IFT140):c.4251G>A (p.Pro1417=)
|
rs773095902
|
0.00001
|
|
NM_014714.4(IFT140):c.4278G>T (p.Gly1426=)
|
rs200161877
|
0.00001
|
|
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr)
|
rs778404277
|
0.00001
|
|
NM_014727.3(KMT2B):c.2462G>T (p.Ser821Ile)
|
rs767324610
|
0.00001
|
|
NM_014727.3(KMT2B):c.3062G>A (p.Arg1021Gln)
|
rs376006013
|
0.00001
|
|
NM_014727.3(KMT2B):c.3604A>G (p.Met1202Val)
|
rs755470297
|
0.00001
|
|
NM_014727.3(KMT2B):c.5429C>T (p.Pro1810Leu)
|
rs1378884779
|
0.00001
|
|
NM_014727.3(KMT2B):c.5908C>A (p.Pro1970Thr)
|
rs991657581
|
0.00001
|
|
NM_014780.5(CUL7):c.1005G>A (p.Leu335=)
|
rs201310376
|
0.00001
|
|
NM_014780.5(CUL7):c.4068A>G (p.Glu1356=)
|
rs886043610
|
0.00001
|
|
NM_014795.4(ZEB2):c.1112A>T (p.Asn371Ile)
|
rs1290033369
|
0.00001
|
|
NM_014795.4(ZEB2):c.2390A>G (p.His797Arg)
|
rs201227541
|
0.00001
|
|
NM_014844.5(TECPR2):c.2700C>T (p.Ser900=)
|
rs545614481
|
0.00001
|
|
NM_014844.5(TECPR2):c.3399G>A (p.Thr1133=)
|
rs765318084
|
0.00001
|
|
NM_014844.5(TECPR2):c.879A>G (p.Ser293=)
|
rs770891190
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1119C>T (p.Phe373=)
|
rs886062353
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1597T>C (p.Leu533=)
|
rs775572689
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1707+14C>T
|
rs759055397
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1863G>A (p.Glu621=)
|
rs780422345
|
0.00001
|
|
NM_014874.4(MFN2):c.2204+13C>T
|
rs200441797
|
0.00001
|
|
NM_014915.3(ANKRD26):c.513T>C (p.Asn171=)
|
rs745670666
|
0.00001
|
|
NM_015178.3(RHOBTB2):c.1304C>T (p.Thr435Met)
|
rs778292046
|
0.00001
|
|
NM_015178.3(RHOBTB2):c.508C>T (p.Pro170Ser)
|
rs761440038
|
0.00001
|
|
NM_015192.4(PLCB1):c.1668A>G (p.Glu556=)
|
rs886056963
|
0.00001
|
|
NM_015192.4(PLCB1):c.3447A>G (p.Glu1149=)
|
rs142432676
|
0.00001
|
|
NM_015192.4(PLCB1):c.456G>A (p.Leu152=)
|
rs200598979
|
0.00001
|
|
NM_015338.6(ASXL1):c.1717C>T (p.Arg573Trp)
|
rs373685182
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.1272-10T>C
|
rs773153713
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.6870A>G (p.Ser2290=)
|
rs766701632
|
0.00001
|
|
NM_015404.4(WHRN):c.1632T>C (p.Thr544=)
|
rs759107735
|
0.00001
|
|
NM_015443.4(KANSL1):c.2860C>T (p.Arg954Trp)
|
rs1322831151
|
0.00001
|
|
NM_015443.4(KANSL1):c.2861G>A (p.Arg954Gln)
|
rs376635152
|
0.00001
|
|
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=)
|
rs1448113794
|
0.00001
|
|
NM_015474.4(SAMHD1):c.840C>T (p.Val280=)
|
rs17853622
|
0.00001
|
|
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)
|
rs369621922
|
0.00001
|
|
NM_015559.3(SETBP1):c.1910C>T (p.Pro637Leu)
|
rs1011541536
|
0.00001
|
|
NM_015559.3(SETBP1):c.1963C>T (p.Leu655Phe)
|
rs764969329
|
0.00001
|
|
NM_015559.3(SETBP1):c.2741G>A (p.Arg914Gln)
|
rs777653524
|
0.00001
|
|
NM_015559.3(SETBP1):c.3175C>T (p.Pro1059Ser)
|
rs1224731205
|
0.00001
|
|
NM_015559.3(SETBP1):c.3427T>C (p.Ser1143Pro)
|
rs762890510
|
0.00001
|
|
NM_015559.3(SETBP1):c.3485G>A (p.Arg1162Gln)
|
rs751046263
|
0.00001
|
|
NM_015559.3(SETBP1):c.4001-7T>A
|
rs767918557
|
0.00001
|
|
NM_015570.4(AUTS2):c.3184C>T (p.Pro1062Ser)
|
rs1057521756
|
0.00001
|
|
NM_015599.3(PGM3):c.219A>G (p.Val73=)
|
rs752657453
|
0.00001
|
|
NM_015627.3(LDLRAP1):c.88+8T>A
|
rs2043860268
|
0.00001
|
|
NM_015629.4(PRPF31):c.1140C>T (p.Phe380=)
|
rs1411083098
|
0.00001
|
|
NM_015629.4(PRPF31):c.837C>T (p.Ile279=)
|
rs1374316824
|
0.00001
|
|
NM_015909.4(NBAS):c.3839G>A (p.Arg1280Gln)
|
rs149082253
|
0.00001
|
|
NM_015909.4(NBAS):c.5569A>G (p.Thr1857Ala)
|
rs758233969
|
0.00001
|
|
NM_015909.4(NBAS):c.6124A>G (p.Met2042Val)
|
rs745940158
|
0.00001
|
|
NM_015915.5(ATL1):c.1623T>G (p.Ala541=)
|
rs777479928
|
0.00001
|
|
NM_015915.5(ATL1):c.300T>G (p.Val100=)
|
rs863224772
|
0.00001
|
|
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu)
|
rs145580873
|
0.00001
|
|
NM_016042.4(EXOSC3):c.325-6T>C
|
rs375827861
|
0.00001
|
|
NM_016097.5(IER3IP1):c.92-10C>T
|
rs772039958
|
0.00001
|
|
NM_016203.4(PRKAG2):c.186+7C>T
|
rs886062102
|
0.00001
|
|
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser)
|
rs730880970
|
0.00001
|
|
NM_016204.4(GDF2):c.252G>A (p.Glu84=)
|
rs1410431494
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1110C>G (p.Ser370=)
|
rs776601946
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1626C>T (p.Pro542=)
|
rs754107444
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1998G>A (p.Lys666=)
|
rs150436630
|
0.00001
|
|
NM_016219.5(MAN1B1):c.2016C>T (p.Phe672=)
|
rs746212127
|
0.00001
|
|
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=)
|
rs750236367
|
0.00001
|
|
NM_016222.4(DDX41):c.1650G>A (p.Ala550=)
|
rs747056004
|
0.00001
|
|
NM_016222.4(DDX41):c.1665C>T (p.Ala555=)
|
rs1356103698
|
0.00001
|
|
NM_016239.4(MYO15A):c.3841G>A (p.Gly1281Arg)
|
rs576515898
|
0.00001
|
|
NM_016239.4(MYO15A):c.6530G>A (p.Arg2177Gln)
|
rs575546518
|
0.00001
|
|
NM_016239.4(MYO15A):c.9815G>A (p.Arg3272His)
|
rs199866618
|
0.00001
|
|
NM_016464.5(TMEM138):c.420A>G (p.Arg140=)
|
rs548368196
|
0.00001
|
|
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln)
|
rs569659022
|
0.00001
|
|
NM_016729.3(FOLR1):c.57A>G (p.Val19=)
|
rs769589754
|
0.00001
|
|
NM_016729.3(FOLR1):c.588C>T (p.Ser196=)
|
rs755278391
|
0.00001
|
|
NM_016729.3(FOLR1):c.678G>A (p.Ala226=)
|
rs531930335
|
0.00001
|
|
NM_016938.5(EFEMP2):c.639C>T (p.Cys213=)
|
rs199606204
|
0.00001
|
|
NM_016955.4(SEPSECS):c.489G>A (p.Lys163=)
|
rs587780457
|
0.00001
|
|
NM_017534.6(MYH2):c.1251C>A (p.Gly417=)
|
rs746987085
|
0.00001
|
|
NM_017534.6(MYH2):c.2305-11T>G
|
rs369500791
|
0.00001
|
|
NM_017534.6(MYH2):c.3263+11A>G
|
rs890845570
|
0.00001
|
|
NM_017534.6(MYH2):c.4696C>T (p.Arg1566Cys)
|
rs529367667
|
0.00001
|
|
NM_017534.6(MYH2):c.688C>T (p.Leu230=)
|
rs375063863
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His)
|
rs775991013
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu)
|
rs754529382
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met)
|
rs376055493
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val)
|
rs755740633
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg)
|
rs764816819
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val)
|
rs370300490
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3482C>T (p.Thr1161Met)
|
rs769903954
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3991G>A (p.Gly1331Arg)
|
rs769908800
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys)
|
rs587778567
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val)
|
rs748862853
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His)
|
rs946083212
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn)
|
rs1417478070
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe)
|
rs775497405
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5495C>G (p.Pro1832Arg)
|
rs1425070721
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys)
|
rs376689092
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly)
|
rs1454512890
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu)
|
rs767822693
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys)
|
rs768817065
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser)
|
rs1020747496
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7128G>T (p.Gln2376His)
|
rs369935287
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu)
|
rs375119074
|
0.00001
|
|
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser)
|
rs755667439
|
0.00001
|
|
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser)
|
rs749696049
|
0.00001
|
|
NM_017636.4(TRPM4):c.1473A>G (p.Leu491=)
|
rs142739227
|
0.00001
|
|
NM_017636.4(TRPM4):c.2229G>A (p.Glu743=)
|
rs745667706
|
0.00001
|
|
NM_017636.4(TRPM4):c.2231A>T (p.Lys744Met)
|
rs569301210
|
0.00001
|
|
NM_017636.4(TRPM4):c.2403G>T (p.Leu801=)
|
rs1455410186
|
0.00001
|
|
NM_017636.4(TRPM4):c.291G>A (p.Thr97=)
|
rs886054576
|
0.00001
|
|
NM_017636.4(TRPM4):c.3489A>G (p.Gly1163=)
|
rs760190293
|
0.00001
|
|
NM_017636.4(TRPM4):c.837T>C (p.Asp279=)
|
rs373391017
|
0.00001
|
|
NM_017654.4(SAMD9):c.1052A>T (p.Asp351Val)
|
rs757652918
|
0.00001
|
|
NM_017654.4(SAMD9):c.3176A>G (p.His1059Arg)
|
rs377438913
|
0.00001
|
|
NM_017654.4(SAMD9):c.4597C>A (p.Arg1533=)
|
rs375396225
|
0.00001
|
|
NM_017668.3(NDE1):c.513T>C (p.Asp171=)
|
rs794727785
|
0.00001
|
|
NM_017668.3(NDE1):c.909A>T (p.Arg303Ser)
|
rs538373943
|
0.00001
|
|
NM_017755.6(NSUN2):c.822C>T (p.Asp274=)
|
rs141802308
|
0.00001
|
|
NM_017780.4(CHD7):c.1512A>G (p.Gln504=)
|
rs587783430
|
0.00001
|
|
NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala)
|
rs764518030
|
0.00001
|
|
NM_017780.4(CHD7):c.6321C>T (p.His2107=)
|
rs778800676
|
0.00001
|
|
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp)
|
rs1329129099
|
0.00001
|
|
NM_017780.4(CHD7):c.860C>T (p.Pro287Leu)
|
rs762290343
|
0.00001
|
|
NM_017837.4(PIGV):c.1317T>C (p.Leu439=)
|
rs959088580
|
0.00001
|
|
NM_017875.4(SLC25A38):c.288A>G (p.Arg96=)
|
rs765578993
|
0.00001
|
|
NM_017934.7(PHIP):c.4941T>A (p.Val1647=)
|
rs1369466541
|
0.00001
|
|
NM_018006.5(TRMU):c.369T>C (p.Ile123=)
|
rs546183296
|
0.00001
|
|
NM_018006.5(TRMU):c.579G>T (p.Gly193=)
|
rs1294405938
|
0.00001
|
|
NM_018006.5(TRMU):c.651+9G>A
|
rs1006261196
|
0.00001
|
|
NM_018006.5(TRMU):c.705+10del
|
rs1569081805
|
0.00001
|
|
NM_018006.5(TRMU):c.879C>T (p.Pro293=)
|
rs781401971
|
0.00001
|
|
NM_018006.5(TRMU):c.954C>T (p.Pro318=)
|
rs758271660
|
0.00001
|
|
NM_018013.4(SOBP):c.219C>T (p.His73=)
|
rs759344534
|
0.00001
|
|
NM_018100.4(EFHC1):c.1194T>C (p.Phe398=)
|
rs201946033
|
0.00001
|
|
NM_018136.5(ASPM):c.174A>T (p.Gly58=)
|
rs908430857
|
0.00001
|
|
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu)
|
rs576139929
|
0.00001
|
|
NM_018344.6(SLC29A3):c.138C>T (p.Pro46=)
|
rs374417695
|
0.00001
|
|
NM_018344.6(SLC29A3):c.624C>T (p.Gly208=)
|
rs757865136
|
0.00001
|
|
NM_018344.6(SLC29A3):c.804T>C (p.His268=)
|
rs896755457
|
0.00001
|
|
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=)
|
rs747318789
|
0.00001
|
|
NM_018389.5(SLC35C1):c.666G>A (p.Ala222=)
|
rs754930082
|
0.00001
|
|
NM_018389.5(SLC35C1):c.837C>T (p.Ala279=)
|
rs371692301
|
0.00001
|
|
NM_018418.5(SPATA7):c.19+7G>A
|
rs199560035
|
0.00001
|
|
NM_018418.5(SPATA7):c.372+11A>G
|
rs757636745
|
0.00001
|
|
NM_018451.5(CENPJ):c.1371G>A (p.Pro457=)
|
rs770254231
|
0.00001
|
|
NM_018451.5(CENPJ):c.2457T>C (p.Tyr819=)
|
rs780573822
|
0.00001
|
|
NM_018668.5(VPS33B):c.456G>T (p.Leu152=)
|
rs997425993
|
0.00001
|
|
NM_018714.3(COG1):c.2682C>T (p.Asn894=)
|
rs781686684
|
0.00001
|
|
NM_018941.4(CLN8):c.256C>T (p.Leu86=)
|
rs755248868
|
0.00001
|
|
NM_018979.4(WNK1):c.131C>T (p.Ala44Val)
|
rs754447060
|
0.00001
|
|
NM_018979.4(WNK1):c.397G>A (p.Val133Ile)
|
rs753342253
|
0.00001
|
|
NM_018979.4(WNK1):c.5312G>T (p.Gly1771Val)
|
rs770566791
|
0.00001
|
|
NM_018979.4(WNK1):c.5442G>A (p.Ala1814=)
|
rs557930357
|
0.00001
|
|
NM_018979.4(WNK1):c.5584-5A>G
|
rs771801197
|
0.00001
|
|
NM_019066.5(MAGEL2):c.42G>A (p.Pro14=)
|
rs794726942
|
0.00001
|
|
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=)
|
rs780119172
|
0.00001
|
|
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=)
|
rs760729838
|
0.00001
|
|
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=)
|
rs763713221
|
0.00001
|
|
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=)
|
rs747015041
|
0.00001
|
|
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=)
|
rs201782543
|
0.00001
|
|
NM_020166.5(MCCC1):c.9G>A (p.Ala3=)
|
rs1191355416
|
0.00001
|
|
NM_020223.4(FAM20C):c.915C>T (p.Tyr305=)
|
rs150808056
|
0.00001
|
|
NM_020247.5(COQ8A):c.1049A>G (p.Lys350Arg)
|
rs548317868
|
0.00001
|
|
NM_020247.5(COQ8A):c.1773T>C (p.Ile591=)
|
rs369502091
|
0.00001
|
|
NM_020247.5(COQ8A):c.358G>A (p.Val120Met)
|
rs376347405
|
0.00001
|
|
NM_020247.5(COQ8A):c.957C>T (p.Asp319=)
|
rs764147237
|
0.00001
|
|
NM_020297.4(ABCC9):c.1659+10T>C
|
rs201753781
|
0.00001
|
|
NM_020297.4(ABCC9):c.1875G>A (p.Ser625=)
|
rs727502873
|
0.00001
|
|
NM_020297.4(ABCC9):c.2199-6T>C
|
rs535477725
|
0.00001
|
|
NM_020297.4(ABCC9):c.3669+10T>C
|
rs199640712
|
0.00001
|
|
NM_020297.4(ABCC9):c.4103-14T>C
|
rs1462468885
|
0.00001
|
|
NM_020320.5(RARS2):c.1678C>T (p.Arg560Cys)
|
rs562472225
|
0.00001
|
|
NM_020376.4(PNPLA2):c.1491C>T (p.Pro497=)
|
rs1434319423
|
0.00001
|
|
NM_020376.4(PNPLA2):c.687G>A (p.Pro229=)
|
rs371893260
|
0.00001
|
|
NM_020376.4(PNPLA2):c.781T>C (p.Leu261=)
|
rs758918583
|
0.00001
|
|
NM_020376.4(PNPLA2):c.912C>A (p.Leu304=)
|
rs886048710
|
0.00001
|
|
NM_020461.4(TUBGCP6):c.3383G>A (p.Arg1128Lys)
|
rs567883079
|
0.00001
|
|
NM_020533.3(MCOLN1):c.1458C>A (p.Arg486=)
|
rs1453967813
|
0.00001
|
|
NM_020533.3(MCOLN1):c.1707-7C>T
|
rs371588106
|
0.00001
|
|
NM_020533.3(MCOLN1):c.189C>T (p.Pro63=)
|
rs1182165362
|
0.00001
|
|
NM_020533.3(MCOLN1):c.32-12C>A
|
rs1372906524
|
0.00001
|
|
NM_020533.3(MCOLN1):c.429A>G (p.Ser143=)
|
rs777036069
|
0.00001
|
|
NM_020533.3(MCOLN1):c.558G>A (p.Pro186=)
|
rs773903184
|
0.00001
|
|
NM_020533.3(MCOLN1):c.621C>T (p.Asp207=)
|
rs774271399
|
0.00001
|
|
NM_020533.3(MCOLN1):c.666G>A (p.Thr222=)
|
rs757935075
|
0.00001
|
|
NM_020533.3(MCOLN1):c.777+13G>A
|
rs775042317
|
0.00001
|
|
NM_020533.3(MCOLN1):c.78G>A (p.Ala26=)
|
rs746629838
|
0.00001
|
|
NM_020686.6(ABAT):c.1431G>A (p.Thr477=)
|
rs573157071
|
0.00001
|
|
NM_020686.6(ABAT):c.285T>C (p.Asp95=)
|
rs917180192
|
0.00001
|
|
NM_020686.6(ABAT):c.387C>T (p.Pro129=)
|
rs759203240
|
0.00001
|
|
NM_020686.6(ABAT):c.978C>T (p.Asp326=)
|
rs201727625
|
0.00001
|
|
NM_020699.4(GATAD2B):c.1467G>A (p.Thr489=)
|
rs763266883
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2658G>A (p.Ala886=)
|
rs546939045
|
0.00001
|
|
NM_020754.4(ARHGAP31):c.1430C>T (p.Pro477Leu)
|
rs200233879
|
0.00001
|
|
NM_020822.3(KCNT1):c.1963G>A (p.Glu655Lys)
|
rs770039542
|
0.00001
|
|
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser)
|
rs1156662870
|
0.00001
|
|
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser)
|
rs570983410
|
0.00001
|
|
NM_020919.4(ALS2):c.1640+10A>G
|
rs755148474
|
0.00001
|
|
NM_020928.2(ZSWIM6):c.2372G>A (p.Arg791Lys)
|
rs896435221
|
0.00001
|
|
NM_020975.6(RET):c.2801+9G>A
|
rs780912886
|
0.00001
|
|
NM_021098.3(CACNA1H):c.5695C>T (p.Pro1899Ser)
|
rs367594144
|
0.00001
|
|
NM_021098.3(CACNA1H):c.6004G>C (p.Gly2002Arg)
|
rs1357838162
|
0.00001
|
|
NM_021098.3(CACNA1H):c.6157G>C (p.Gly2053Arg)
|
rs754154177
|
0.00001
|
|
NM_021098.3(CACNA1H):c.6542C>T (p.Ala2181Val)
|
rs776161185
|
0.00001
|
|
NM_021252.5(RAB18):c.501A>G (p.Glu167=)
|
rs1346169896
|
0.00001
|
|
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=)
|
rs545589086
|
0.00001
|
|
NM_021728.4(OTX2):c.150G>A (p.Arg50=)
|
rs1246931412
|
0.00001
|
|
NM_021922.3(FANCE):c.216G>T (p.Pro72=)
|
rs886061328
|
0.00001
|
|
NM_021922.3(FANCE):c.330G>A (p.Pro110=)
|
rs757051494
|
0.00001
|
|
NM_021939.4(FKBP10):c.1399+8G>T
|
rs782073490
|
0.00001
|
|
NM_021957.4(GYS2):c.1230-5T>G
|
rs777032042
|
0.00001
|
|
NM_022041.4(GAN):c.1017G>A (p.Gln339=)
|
rs201451382
|
0.00001
|
|
NM_022041.4(GAN):c.471G>A (p.Leu157=)
|
rs143704621
|
0.00001
|
|
NM_022041.4(GAN):c.634-6C>T
|
rs199874705
|
0.00001
|
|
NM_022041.4(GAN):c.801A>G (p.Lys267=)
|
rs746799355
|
0.00001
|
|
NM_022042.4(SLC26A1):c.*874C>T
|
rs775172497
|
0.00001
|
|
NM_022042.4(SLC26A1):c.*876C>T
|
rs546988577
|
0.00001
|
|
NM_022081.6(HPS4):c.2040C>T (p.Ser680=)
|
rs752931351
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=)
|
rs764435162
|
0.00001
|
|
NM_022114.4(PRDM16):c.2067C>T (p.Ala689=)
|
rs371813954
|
0.00001
|
|
NM_022114.4(PRDM16):c.2169G>A (p.Ser723=)
|
rs775363690
|
0.00001
|
|
NM_022124.6(CDH23):c.1090G>A (p.Gly364Ser)
|
rs767750411
|
0.00001
|
|
NM_022124.6(CDH23):c.1135-10C>G
|
rs749236786
|
0.00001
|
|
NM_022124.6(CDH23):c.2310C>T (p.Asp770=)
|
rs886047131
|
0.00001
|
|
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=)
|
rs571668370
|
0.00001
|
|
NM_022124.6(CDH23):c.4207-8G>T
|
rs748187466
|
0.00001
|
|
NM_022124.6(CDH23):c.4782C>T (p.Arg1594=)
|
rs756336099
|
0.00001
|
|
NM_022124.6(CDH23):c.6465G>A (p.Ser2155=)
|
rs373462599
|
0.00001
|
|
NM_022124.6(CDH23):c.6664C>T (p.Arg2222Cys)
|
rs761082272
|
0.00001
|
|
NM_022124.6(CDH23):c.7055-15G>A
|
rs371872394
|
0.00001
|
|
NM_022124.6(CDH23):c.8065-8G>A
|
rs376332131
|
0.00001
|
|
NM_022124.6(CDH23):c.8065-9C>T
|
rs397517355
|
0.00001
|
|
NM_022124.6(CDH23):c.9108G>A (p.Glu3036=)
|
rs768198017
|
0.00001
|
|
NM_022124.6(CDH23):c.960C>T (p.Asn320=)
|
rs756644736
|
0.00001
|
|
NM_022124.6(CDH23):c.9759C>T (p.Asp3253=)
|
rs540567272
|
0.00001
|
|
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)
|
rs562590210
|
0.00001
|
|
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=)
|
rs767453829
|
0.00001
|
|
NM_022367.4(SEMA4A):c.1431C>G (p.Thr477=)
|
rs755693576
|
0.00001
|
|
NM_022367.4(SEMA4A):c.2106C>T (p.Leu702=)
|
rs772147085
|
0.00001
|
|
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg)
|
rs554680915
|
0.00001
|
|
NM_022437.3(ABCG8):c.1211+7A>T
|
rs568899040
|
0.00001
|
|
NM_022437.3(ABCG8):c.1212-10G>C
|
rs765938367
|
0.00001
|
|
NM_022437.3(ABCG8):c.1533C>T (p.Tyr511=)
|
rs763640657
|
0.00001
|
|
NM_022437.3(ABCG8):c.1789C>A (p.Arg597=)
|
rs776778929
|
0.00001
|
|
NM_022437.3(ABCG8):c.1923C>T (p.Tyr641=)
|
rs369023184
|
0.00001
|
|
NM_022455.5(NSD1):c.4966+15T>C
|
rs587784130
|
0.00001
|
|
NM_022464.5(SIL1):c.741G>A (p.Ala247=)
|
rs773520401
|
0.00001
|
|
NM_022489.4(INF2):c.1067C>T (p.Ala356Val)
|
rs375622503
|
0.00001
|
|
NM_022489.4(INF2):c.1097A>G (p.Gln366Arg)
|
rs747903915
|
0.00001
|
|
NM_022489.4(INF2):c.1189G>A (p.Val397Met)
|
rs771775245
|
0.00001
|
|
NM_022489.4(INF2):c.1792G>A (p.Asp598Asn)
|
rs368948089
|
0.00001
|
|
NM_022489.4(INF2):c.1994C>T (p.Thr665Ile)
|
rs1279137766
|
0.00001
|
|
NM_022489.4(INF2):c.2390G>A (p.Arg797His)
|
rs200261709
|
0.00001
|
|
NM_022489.4(INF2):c.2578G>A (p.Glu860Lys)
|
rs376094545
|
0.00001
|
|
NM_022489.4(INF2):c.2776-5T>C
|
rs1442200771
|
0.00001
|
|
NM_022489.4(INF2):c.3041-4C>T
|
rs945997134
|
0.00001
|
|
NM_022489.4(INF2):c.3061G>A (p.Gly1021Arg)
|
rs762689516
|
0.00001
|
|
NM_022489.4(INF2):c.3126C>T (p.Ser1042=)
|
rs1035033414
|
0.00001
|
|
NM_022489.4(INF2):c.3224G>A (p.Arg1075His)
|
rs370169829
|
0.00001
|
|
NM_022489.4(INF2):c.3373G>A (p.Gly1125Arg)
|
rs775116734
|
0.00001
|
|
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala)
|
rs778879482
|
0.00001
|
|
NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp)
|
rs200823300
|
0.00001
|
|
NM_022489.4(INF2):c.409G>A (p.Val137Met)
|
rs200713451
|
0.00001
|
|
NM_022489.4(INF2):c.733C>G (p.Leu245Val)
|
rs765986755
|
0.00001
|
|
NM_022489.4(INF2):c.787T>G (p.Ser263Ala)
|
rs1364540701
|
0.00001
|
|
NM_022489.4(INF2):c.799G>A (p.Asp267Asn)
|
rs772599038
|
0.00001
|
|
NM_022726.4(ELOVL4):c.192A>C (p.Pro64=)
|
rs201014417
|
0.00001
|
|
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys)
|
rs777557874
|
0.00001
|
|
NM_024105.4(ALG12):c.117G>A (p.Leu39=)
|
rs371814322
|
0.00001
|
|
NM_024105.4(ALG12):c.933C>T (p.Arg311=)
|
rs779215527
|
0.00001
|
|
NM_024120.5(NDUFAF5):c.222+7C>T
|
rs777576855
|
0.00001
|
|
NM_024422.6(DSC2):c.2126-11T>C
|
rs1283105269
|
0.00001
|
|
NM_024422.6(DSC2):c.2430G>A (p.Arg810=)
|
rs755276378
|
0.00001
|
|
NM_024529.5(CDC73):c.1011C>T (p.Ala337=)
|
rs372567546
|
0.00001
|
|
NM_024570.4(RNASEH2B):c.897C>A (p.Thr299=)
|
rs886050291
|
0.00001
|
|
NM_024589.3(ROGDI):c.507C>T (p.Pro169=)
|
rs767771299
|
0.00001
|
|
NM_024589.3(ROGDI):c.753C>T (p.Ile251=)
|
rs144581570
|
0.00001
|
|
NM_024589.3(ROGDI):c.795G>A (p.Leu265=)
|
rs749782882
|
0.00001
|
|
NM_024596.5(MCPH1):c.1494C>T (p.Cys498=)
|
rs199951156
|
0.00001
|
|
NM_024596.5(MCPH1):c.954T>C (p.Ala318=)
|
rs770723949
|
0.00001
|
|
NM_024642.5(GALNT12):c.1581G>A (p.Glu527=)
|
rs1423291369
|
0.00001
|
|
NM_024675.4(PALB2):c.1343G>A (p.Ser448Asn)
|
rs956172059
|
0.00001
|
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
|
NM_024675.4(PALB2):c.1685-14T>A
|
rs780772404
|
0.00001
|
|
NM_024675.4(PALB2):c.2087C>T (p.Thr696Met)
|
rs587780820
|
0.00001
|
|
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)
|
rs587778586
|
0.00001
|
|
NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn)
|
rs148026749
|
0.00001
|
|
NM_024753.5(TTC21B):c.338A>G (p.His113Arg)
|
rs146865517
|
0.00001
|
|
NM_024757.5(EHMT1):c.1181A>C (p.Glu394Ala)
|
rs773281152
|
0.00001
|
|
NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu)
|
rs373640528
|
0.00001
|
|
NM_024757.5(EHMT1):c.376A>G (p.Ile126Val)
|
rs773781896
|
0.00001
|
|
NM_024757.5(EHMT1):c.510G>T (p.Gln170His)
|
rs1308431693
|
0.00001
|
|
NM_025074.7(FRAS1):c.4098C>T (p.Ile1366=)
|
rs1027609786
|
0.00001
|
|
NM_025074.7(FRAS1):c.6876T>C (p.Asp2292=)
|
rs779794904
|
0.00001
|
|
NM_025074.7(FRAS1):c.8131T>C (p.Tyr2711His)
|
rs541053205
|
0.00001
|
|
NM_025077.4(TOE1):c.-38G>C
|
rs774530388
|
0.00001
|
|
NM_025099.6(CTC1):c.1078-13G>A
|
rs200325111
|
0.00001
|
|
NM_025099.6(CTC1):c.1092C>T (p.Gly364=)
|
rs761668228
|
0.00001
|
|
NM_025099.6(CTC1):c.1500C>T (p.Pro500=)
|
rs761750183
|
0.00001
|
|
NM_025099.6(CTC1):c.2386-10A>G
|
rs746382653
|
0.00001
|
|
NM_025099.6(CTC1):c.2439G>A (p.Pro813=)
|
rs200759730
|
0.00001
|
|
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala)
|
rs777357385
|
0.00001
|
|
NM_025137.4(SPG11):c.1763A>G (p.Asp588Gly)
|
rs763060505
|
0.00001
|
|
NM_025137.4(SPG11):c.39C>T (p.Ala13=)
|
rs759646328
|
0.00001
|
|
NM_025137.4(SPG11):c.5595A>G (p.Thr1865=)
|
rs375403626
|
0.00001
|
|
NM_025137.4(SPG11):c.5598C>T (p.Cys1866=)
|
rs570599267
|
0.00001
|
|
NM_025137.4(SPG11):c.581C>T (p.Pro194Leu)
|
rs573482671
|
0.00001
|
|
NM_025137.4(SPG11):c.6726A>G (p.Gln2242=)
|
rs376245210
|
0.00001
|
|
NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile)
|
rs779900397
|
0.00001
|
|
NM_025243.4(SLC19A3):c.861C>T (p.Phe287=)
|
rs764867524
|
0.00001
|
|
NM_030665.4(RAI1):c.1202C>T (p.Thr401Met)
|
rs200825036
|
0.00001
|
|
NM_030665.4(RAI1):c.12T>C (p.Phe4=)
|
rs755209169
|
0.00001
|
|
NM_030665.4(RAI1):c.1758G>C (p.Lys586Asn)
|
rs756134541
|
0.00001
|
|
NM_030665.4(RAI1):c.1937A>C (p.His646Pro)
|
rs757197196
|
0.00001
|
|
NM_030665.4(RAI1):c.3720C>T (p.Val1240=)
|
rs778274557
|
0.00001
|
|
NM_030665.4(RAI1):c.469T>C (p.Tyr157His)
|
rs1289033749
|
0.00001
|
|
NM_030665.4(RAI1):c.5170C>T (p.Arg1724Trp)
|
rs373198856
|
0.00001
|
|
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=)
|
rs1301992983
|
0.00001
|
|
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=)
|
rs201159437
|
0.00001
|
|
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=)
|
rs371344477
|
0.00001
|
|
NM_030777.4(SLC2A10):c.810G>C (p.Val270=)
|
rs774452914
|
0.00001
|
|
NM_031407.7(HUWE1):c.10145G>C (p.Ser3382Thr)
|
rs782307186
|
0.00001
|
|
NM_031407.7(HUWE1):c.1142A>C (p.Gln381Pro)
|
rs1012962799
|
0.00001
|
|
NM_031844.3(HNRNPU):c.2031T>C (p.Leu677=)
|
rs1680670991
|
0.00001
|
|
NM_031844.3(HNRNPU):c.2248G>A (p.Gly750Ser)
|
rs1360721056
|
0.00001
|
|
NM_031844.3(HNRNPU):c.715G>A (p.Gly239Ser)
|
rs1014292464
|
0.00001
|
|
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn)
|
rs373040333
|
0.00001
|
|
NM_032119.4(ADGRV1):c.11390C>T (p.Thr3797Ile)
|
rs375025827
|
0.00001
|
|
NM_032119.4(ADGRV1):c.1140A>G (p.Gln380=)
|
rs373902384
|
0.00001
|
|
NM_032119.4(ADGRV1):c.11947G>A (p.Ala3983Thr)
|
rs774167945
|
0.00001
|
|
NM_032119.4(ADGRV1):c.12176C>T (p.Thr4059Met)
|
rs376833921
|
0.00001
|
|
NM_032119.4(ADGRV1):c.12424C>T (p.Arg4142Trp)
|
rs534226753
|
0.00001
|
|
NM_032119.4(ADGRV1):c.1254A>G (p.Thr418=)
|
rs1315101894
|
0.00001
|
|
NM_032119.4(ADGRV1):c.12613T>G (p.Ser4205Ala)
|
rs746448681
|
0.00001
|
|
NM_032119.4(ADGRV1):c.13495C>T (p.Arg4499Cys)
|
rs567519802
|
0.00001
|
|
NM_032119.4(ADGRV1):c.137C>T (p.Thr46Ile)
|
rs754162988
|
0.00001
|
|
NM_032119.4(ADGRV1):c.14353A>G (p.Ile4785Val)
|
rs773654115
|
0.00001
|
|
NM_032119.4(ADGRV1):c.14521T>C (p.Phe4841Leu)
|
rs763840800
|
0.00001
|
|
NM_032119.4(ADGRV1):c.15959A>T (p.Asp5320Val)
|
rs398124425
|
0.00001
|
|
NM_032119.4(ADGRV1):c.16745C>T (p.Thr5582Met)
|
rs771468922
|
0.00001
|
|
NM_032119.4(ADGRV1):c.17276A>G (p.Asn5759Ser)
|
rs375445058
|
0.00001
|
|
NM_032119.4(ADGRV1):c.17349A>G (p.Ala5783=)
|
rs747992951
|
0.00001
|
|
NM_032119.4(ADGRV1):c.17794A>C (p.Arg5932=)
|
rs747728554
|
0.00001
|
|
NM_032119.4(ADGRV1):c.17857-11G>A
|
rs918520562
|
0.00001
|
|
NM_032119.4(ADGRV1):c.17973+7A>G
|
rs751094041
|
0.00001
|
|
NM_032119.4(ADGRV1):c.1799A>G (p.Asn600Ser)
|
rs876657823
|
0.00001
|
|
NM_032119.4(ADGRV1):c.18125A>G (p.Gln6042Arg)
|
rs764963960
|
0.00001
|
|
NM_032119.4(ADGRV1):c.18214C>T (p.Leu6072Phe)
|
rs769391232
|
0.00001
|
|
NM_032119.4(ADGRV1):c.2021A>G (p.Tyr674Cys)
|
rs761220696
|
0.00001
|
|
NM_032119.4(ADGRV1):c.222C>T (p.Asp74=)
|
rs181146384
|
0.00001
|
|
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His)
|
rs757860505
|
0.00001
|
|
NM_032119.4(ADGRV1):c.2735-8T>C
|
rs1181016921
|
0.00001
|
|
NM_032119.4(ADGRV1):c.2759G>A (p.Arg920Gln)
|
rs766225545
|
0.00001
|
|
NM_032119.4(ADGRV1):c.2800C>G (p.Pro934Ala)
|
rs149600158
|
0.00001
|
|
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=)
|
rs369910075
|
0.00001
|
|
NM_032119.4(ADGRV1):c.328G>A (p.Glu110Lys)
|
rs876657822
|
0.00001
|
|
NM_032119.4(ADGRV1):c.3563T>C (p.Ile1188Thr)
|
rs368562997
|
0.00001
|
|
NM_032119.4(ADGRV1):c.3943C>A (p.Gln1315Lys)
|
rs764685377
|
0.00001
|
|
NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp)
|
rs794727329
|
0.00001
|
|
NM_032119.4(ADGRV1):c.4373C>G (p.Thr1458Ser)
|
rs562424836
|
0.00001
|
|
NM_032119.4(ADGRV1):c.4463G>A (p.Arg1488Gln)
|
rs748876967
|
0.00001
|
|
NM_032119.4(ADGRV1):c.4771A>G (p.Thr1591Ala)
|
rs775471701
|
0.00001
|
|
NM_032119.4(ADGRV1):c.5379T>C (p.Thr1793=)
|
rs772972763
|
0.00001
|
|
NM_032119.4(ADGRV1):c.5560A>G (p.Ile1854Val)
|
rs758419783
|
0.00001
|
|
NM_032119.4(ADGRV1):c.5857A>G (p.Ser1953Gly)
|
rs1425873975
|
0.00001
|
|
NM_032119.4(ADGRV1):c.6275-9G>T
|
rs1206365367
|
0.00001
|
|
NM_032119.4(ADGRV1):c.6332T>C (p.Ile2111Thr)
|
rs776199730
|
0.00001
|
|
NM_032119.4(ADGRV1):c.6728T>C (p.Ile2243Thr)
|
rs1050561499
|
0.00001
|
|
NM_032119.4(ADGRV1):c.690A>C (p.Glu230Asp)
|
rs397517434
|
0.00001
|
|
NM_032119.4(ADGRV1):c.7007G>A (p.Arg2336Gln)
|
rs755180090
|
0.00001
|
|
NM_032119.4(ADGRV1):c.754A>G (p.Ile252Val)
|
rs1299020576
|
0.00001
|
|
NM_032119.4(ADGRV1):c.7664A>G (p.Lys2555Arg)
|
rs1284659275
|
0.00001
|
|
NM_032119.4(ADGRV1):c.7735G>A (p.Val2579Met)
|
rs755818826
|
0.00001
|
|
NM_032119.4(ADGRV1):c.7748A>G (p.Tyr2583Cys)
|
rs778879752
|
0.00001
|
|
NM_032119.4(ADGRV1):c.8292G>A (p.Ser2764=)
|
rs778011573
|
0.00001
|
|
NM_032119.4(ADGRV1):c.8791A>G (p.Met2931Val)
|
rs1250073917
|
0.00001
|
|
NM_032119.4(ADGRV1):c.8938T>C (p.Leu2980=)
|
rs397517442
|
0.00001
|
|
NM_032119.4(ADGRV1):c.929G>A (p.Gly310Glu)
|
rs766790920
|
0.00001
|
|
NM_032119.4(ADGRV1):c.940G>A (p.Ala314Thr)
|
rs533540279
|
0.00001
|
|
NM_032193.4(RNASEH2C):c.173-14G>A
|
rs886048502
|
0.00001
|
|
NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val)
|
rs546358774
|
0.00001
|
|
NM_032383.5(HPS3):c.789A>G (p.Glu263=)
|
rs927155737
|
0.00001
|
|
NM_032409.3(PINK1):c.1123+19A>G
|
rs762129771
|
0.00001
|
|
NM_032409.3(PINK1):c.388-10C>G
|
rs763983499
|
0.00001
|
|
NM_032415.7(CARD11):c.715A>G (p.Met239Val)
|
rs541337893
|
0.00001
|
|
NM_032444.4(SLX4):c.2099G>A (p.Gly700Glu)
|
rs373081094
|
0.00001
|
|
NM_032634.4(PIGO):c.1416A>T (p.Ala472=)
|
rs749630366
|
0.00001
|
|
NM_032634.4(PIGO):c.2874G>C (p.Leu958=)
|
rs1269359376
|
0.00001
|
|
NM_032977.4(CASP10):c.442-14T>G
|
rs755555484
|
0.00001
|
|
NM_032977.4(CASP10):c.81T>C (p.Ile27=)
|
rs751728796
|
0.00001
|
|
NM_033056.4(PCDH15):c.4608A>G (p.Val1536=)
|
rs727504070
|
0.00001
|
|
NM_033056.4(PCDH15):c.5805G>T (p.Gly1935=)
|
rs727504069
|
0.00001
|
|
NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter)
|
rs1457208099
|
0.00001
|
|
NM_033109.5(PNPT1):c.1923G>A (p.Gln641=)
|
rs779794474
|
0.00001
|
|
NM_033159.4(HYAL1):c.1047G>C (p.Leu349=)
|
rs782279681
|
0.00001
|
|
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=)
|
rs781838448
|
0.00001
|
|
NM_033380.3(COL4A5):c.3095T>C (p.Met1032Thr)
|
rs754487739
|
0.00001
|
|
NM_033380.3(COL4A5):c.3141T>C (p.Ser1047=)
|
rs1350852221
|
0.00001
|
|
NM_052813.5(CARD9):c.185-5C>T
|
rs760533705
|
0.00001
|
|
NM_052813.5(CARD9):c.549C>T (p.Tyr183=)
|
rs528585158
|
0.00001
|
|
NM_052813.5(CARD9):c.636G>A (p.Gln212=)
|
rs759411705
|
0.00001
|
|
NM_052845.4(MMAB):c.349-10C>T
|
rs896742047
|
0.00001
|
|
NM_052845.4(MMAB):c.516G>T (p.Leu172=)
|
rs914000089
|
0.00001
|
|
NM_052845.4(MMAB):c.522G>A (p.Ser174=)
|
rs545625368
|
0.00001
|
|
NM_052845.4(MMAB):c.99G>A (p.Gln33=)
|
rs749127574
|
0.00001
|
|
NM_052859.4(RFT1):c.201C>T (p.Arg67=)
|
rs954135080
|
0.00001
|
|
NM_052867.4(NALCN):c.4466G>A (p.Arg1489His)
|
rs149644813
|
0.00001
|
|
NM_052874.5(STX1B):c.845T>C (p.Ile282Thr)
|
rs763428520
|
0.00001
|
|
NM_053013.4(ENO3):c.363G>A (p.Ala121=)
|
rs201872558
|
0.00001
|
|
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp)
|
rs552998417
|
0.00001
|
|
NM_053025.4(MYLK):c.1745C>A (p.Thr582Asn)
|
rs749069560
|
0.00001
|
|
NM_053025.4(MYLK):c.2604C>T (p.Asp868=)
|
rs372924929
|
0.00001
|
|
NM_053025.4(MYLK):c.3336C>A (p.Gly1112=)
|
rs1060504648
|
0.00001
|
|
NM_053025.4(MYLK):c.3372C>T (p.Asp1124=)
|
rs774568740
|
0.00001
|
|
NM_053025.4(MYLK):c.3900G>A (p.Ala1300=)
|
rs563116446
|
0.00001
|
|
NM_053025.4(MYLK):c.5703G>A (p.Thr1901=)
|
rs540804249
|
0.00001
|
|
NM_058216.3(RAD51C):c.404+7T>C
|
rs1350153132
|
0.00001
|
|
NM_058216.3(RAD51C):c.435A>G (p.Pro145=)
|
rs555235745
|
0.00001
|
|
NM_058246.4(DNAJB6):c.723G>A (p.Glu241=)
|
rs886062129
|
0.00001
|
|
NM_080424.4(SP110):c.711C>T (p.Asp237=)
|
rs1167489264
|
0.00001
|
|
NM_080680.3(COL11A2):c.1298G>A (p.Arg433Gln)
|
rs762813373
|
0.00001
|
|
NM_080680.3(COL11A2):c.1399G>A (p.Val467Met)
|
rs755731113
|
0.00001
|
|
NM_080680.3(COL11A2):c.143G>A (p.Arg48Gln)
|
rs760502556
|
0.00001
|
|
NM_080680.3(COL11A2):c.2346C>A (p.Asp782Glu)
|
rs769588312
|
0.00001
|
|
NM_080680.3(COL11A2):c.2356C>T (p.Pro786Ser)
|
rs997884133
|
0.00001
|
|
NM_080680.3(COL11A2):c.2416C>T (p.Arg806Cys)
|
rs376355040
|
0.00001
|
|
NM_080680.3(COL11A2):c.2425C>G (p.Pro809Ala)
|
rs1483323590
|
0.00001
|
|
NM_080680.3(COL11A2):c.2510G>A (p.Arg837Gln)
|
rs773908748
|
0.00001
|
|
NM_080680.3(COL11A2):c.2518C>T (p.Arg840Trp)
|
rs769151199
|
0.00001
|
|
NM_080680.3(COL11A2):c.2519G>A (p.Arg840Gln)
|
rs538425732
|
0.00001
|
|
NM_080680.3(COL11A2):c.2812C>T (p.Pro938Ser)
|
rs764935691
|
0.00001
|
|
NM_080680.3(COL11A2):c.3118C>A (p.Pro1040Thr)
|
rs759919085
|
0.00001
|
|
NM_080680.3(COL11A2):c.3326C>A (p.Pro1109His)
|
rs751465004
|
0.00001
|
|
NM_080680.3(COL11A2):c.3335C>A (p.Pro1112His)
|
rs759086485
|
0.00001
|
|
NM_080680.3(COL11A2):c.3392G>A (p.Arg1131Gln)
|
rs529015303
|
0.00001
|
|
NM_080680.3(COL11A2):c.3609T>G (p.Val1203=)
|
rs768558233
|
0.00001
|
|
NM_080680.3(COL11A2):c.3697C>T (p.Arg1233Cys)
|
rs780613380
|
0.00001
|
|
NM_080680.3(COL11A2):c.3799-9C>G
|
rs762361602
|
0.00001
|
|
NM_080680.3(COL11A2):c.3859G>C (p.Asp1287His)
|
rs1219133025
|
0.00001
|
|
NM_080680.3(COL11A2):c.3878G>A (p.Arg1293Gln)
|
rs727504832
|
0.00001
|
|
NM_080680.3(COL11A2):c.4307C>T (p.Pro1436Leu)
|
rs1338682682
|
0.00001
|
|
NM_080680.3(COL11A2):c.453T>C (p.Arg151=)
|
rs147115504
|
0.00001
|
|
NM_080680.3(COL11A2):c.4951G>A (p.Val1651Ile)
|
rs766589324
|
0.00001
|
|
NM_080680.3(COL11A2):c.4970G>T (p.Gly1657Val)
|
rs1300439797
|
0.00001
|
|
NM_080680.3(COL11A2):c.5083C>T (p.Arg1695Trp)
|
rs534700620
|
0.00001
|
|
NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln)
|
rs781633250
|
0.00001
|
|
NM_080680.3(COL11A2):c.689G>A (p.Gly230Glu)
|
rs143571317
|
0.00001
|
|
NM_080916.3(DGUOK):c.143-4G>A
|
rs544350167
|
0.00001
|
|
NM_080916.3(DGUOK):c.405G>A (p.Lys135=)
|
rs775871024
|
0.00001
|
|
NM_080916.3(DGUOK):c.808-10C>G
|
rs758503693
|
0.00001
|
|
NM_130837.3(OPA1):c.1398T>C (p.Ala466=)
|
rs886043473
|
0.00001
|
|
NM_130837.3(OPA1):c.212G>A (p.Arg71His)
|
rs766106312
|
0.00001
|
|
NM_130837.3(OPA1):c.2228C>T (p.Pro743Leu)
|
rs746579947
|
0.00001
|
|
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)
|
rs143252541
|
0.00001
|
|
NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg)
|
rs139106405
|
0.00001
|
|
NM_130837.3(OPA1):c.3017C>G (p.Ala1006Gly)
|
rs577055148
|
0.00001
|
|
NM_130837.3(OPA1):c.517G>A (p.Val173Ile)
|
rs778997114
|
0.00001
|
|
NM_130837.3(OPA1):c.626C>T (p.Thr209Met)
|
rs772596317
|
0.00001
|
|
NM_130837.3(OPA1):c.661G>A (p.Asp221Asn)
|
rs367814426
|
0.00001
|
|
NM_130837.3(OPA1):c.89T>C (p.Leu30Pro)
|
rs758056583
|
0.00001
|
|
NM_130839.5(UBE3A):c.1881T>C (p.Asp627=)
|
rs587784522
|
0.00001
|
|
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=)
|
rs587780991
|
0.00001
|
|
NM_133433.4(NIPBL):c.5295G>A (p.Pro1765=)
|
rs758853244
|
0.00001
|
|
NM_133433.4(NIPBL):c.7411-15G>A
|
rs374348403
|
0.00001
|
|
NM_133433.4(NIPBL):c.772-8A>G
|
rs398124473
|
0.00001
|
|
NM_133642.5(LARGE1):c.1005+15T>G
|
rs1414312676
|
0.00001
|
|
NM_133642.5(LARGE1):c.492-6C>G
|
rs762612242
|
0.00001
|
|
NM_138386.3(NAF1):c.36A>G (p.Glu12=)
|
rs959538930
|
0.00001
|
|
NM_138386.3(NAF1):c.878+7A>G
|
rs376575422
|
0.00001
|
|
NM_138694.4(PKHD1):c.1693+10G>A
|
rs886061621
|
0.00001
|
|
NM_138694.4(PKHD1):c.192C>T (p.Asn64=)
|
rs148089143
|
0.00001
|
|
NM_138694.4(PKHD1):c.2141-4C>G
|
rs1042054004
|
0.00001
|
|
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=)
|
rs1562217633
|
0.00001
|
|
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val)
|
rs727504088
|
0.00001
|
|
NM_138694.4(PKHD1):c.3462A>G (p.Thr1154=)
|
rs758231968
|
0.00001
|
|
NM_138694.4(PKHD1):c.414C>T (p.Ile138=)
|
rs368595925
|
0.00001
|
|
NM_138694.4(PKHD1):c.5160C>T (p.Asp1720=)
|
rs754333450
|
0.00001
|
|
NM_138694.4(PKHD1):c.5556T>C (p.His1852=)
|
rs549418638
|
0.00001
|
|
NM_138694.4(PKHD1):c.5601-8C>T
|
rs578030952
|
0.00001
|
|
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=)
|
rs774944622
|
0.00001
|
|
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys)
|
rs368263958
|
0.00001
|
|
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=)
|
rs200807210
|
0.00001
|
|
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=)
|
rs771563591
|
0.00001
|
|
NM_138694.4(PKHD1):c.7733+15C>A
|
rs771759749
|
0.00001
|
|
NM_138694.4(PKHD1):c.8181C>G (p.Thr2727=)
|
rs759658629
|
0.00001
|
|
NM_139276.3(STAT3):c.657T>C (p.Ser219=)
|
rs886052943
|
0.00001
|
|
NM_139343.3(BIN1):c.1092C>T (p.Asp364=)
|
rs745647728
|
0.00001
|
|
NM_139343.3(BIN1):c.1675-7C>T
|
rs372449622
|
0.00001
|
|
NM_139343.3(BIN1):c.698+15G>A
|
rs535176915
|
0.00001
|
|
NM_144599.5(NIPA1):c.267G>A (p.Ala89=)
|
rs751391752
|
0.00001
|
|
NM_144670.6(A2ML1):c.1248+7A>G
|
rs765019682
|
0.00001
|
|
NM_144670.6(A2ML1):c.2712+12T>A
|
rs774960083
|
0.00001
|
|
NM_144670.6(A2ML1):c.4221+17C>T
|
rs772852256
|
0.00001
|
|
NM_144670.6(A2ML1):c.970+13C>T
|
rs748203389
|
0.00001
|
|
NM_144672.4(OTOA):c.1807-6T>C
|
rs767786513
|
0.00001
|
|
NM_144687.4(NLRP12):c.2244-14C>T
|
rs866055657
|
0.00001
|
|
NM_144687.4(NLRP12):c.654G>A (p.Ala218=)
|
rs745766441
|
0.00001
|
|
NM_144687.4(NLRP12):c.861G>A (p.Glu287=)
|
rs765562062
|
0.00001
|
|
NM_144992.5(VWA3B):c.1296C>T (p.Ser432=)
|
rs375244468
|
0.00001
|
|
NM_145207.3(AFG2A):c.164-4A>G
|
rs752411823
|
0.00001
|
|
NM_145698.5(ACBD5):c.262T>C (p.Ser88Pro)
|
rs199700938
|
0.00001
|
|
NM_152269.5(MTRFR):c.90G>A (p.Thr30=)
|
rs775127232
|
0.00001
|
|
NM_152281.3(GORAB):c.954G>C (p.Val318=)
|
rs483352768
|
0.00001
|
|
NM_152296.5(ATP1A3):c.1303-15C>A
|
rs782749835
|
0.00001
|
|
NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=)
|
rs886054473
|
0.00001
|
|
NM_152296.5(ATP1A3):c.2418+9T>A
|
rs950336124
|
0.00001
|
|
NM_152296.5(ATP1A3):c.936C>A (p.Ile312=)
|
rs782140994
|
0.00001
|
|
NM_152383.5(DIS3L2):c.1425+13A>G
|
rs565049855
|
0.00001
|
|
NM_152383.5(DIS3L2):c.1809G>A (p.Glu603=)
|
rs748787779
|
0.00001
|
|
NM_152383.5(DIS3L2):c.2151C>T (p.Ala717=)
|
rs747739911
|
0.00001
|
|
NM_152383.5(DIS3L2):c.2394C>T (p.Asn798=)
|
rs773602107
|
0.00001
|
|
NM_152383.5(DIS3L2):c.2637C>T (p.Pro879=)
|
rs376299829
|
0.00001
|
|
NM_152564.5(VPS13B):c.10237G>T (p.Ala3413Ser)
|
rs79324124
|
0.00001
|
|
NM_152564.5(VPS13B):c.10776G>A (p.Ser3592=)
|
rs547516730
|
0.00001
|
|
NM_152564.5(VPS13B):c.11040C>T (p.Ser3680=)
|
rs199748413
|
0.00001
|
|
NM_152564.5(VPS13B):c.11070C>T (p.Leu3690=)
|
rs185477101
|
0.00001
|
|
NM_152564.5(VPS13B):c.11202C>T (p.Gly3734=)
|
rs766658666
|
0.00001
|
|
NM_152564.5(VPS13B):c.11215+8G>T
|
rs1285906381
|
0.00001
|
|
NM_152564.5(VPS13B):c.1137A>G (p.Lys379=)
|
rs1847925535
|
0.00001
|
|
NM_152564.5(VPS13B):c.114C>T (p.Ser38=)
|
rs768496696
|
0.00001
|
|
NM_152564.5(VPS13B):c.207A>T (p.Val69=)
|
rs772922484
|
0.00001
|
|
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=)
|
rs146450992
|
0.00001
|
|
NM_152564.5(VPS13B):c.2651-10T>G
|
rs398124330
|
0.00001
|
|
NM_152564.5(VPS13B):c.5221-5T>C
|
rs761788793
|
0.00001
|
|
NM_152564.5(VPS13B):c.5472G>A (p.Met1824Ile)
|
rs771916272
|
0.00001
|
|
NM_152564.5(VPS13B):c.5796T>C (p.Phe1932=)
|
rs765209957
|
0.00001
|
|
NM_152564.5(VPS13B):c.6591C>T (p.Ser2197=)
|
rs774730061
|
0.00001
|
|
NM_152564.5(VPS13B):c.6866-14C>A
|
rs1277958075
|
0.00001
|
|
NM_152564.5(VPS13B):c.7716A>G (p.Val2572=)
|
rs981350121
|
0.00001
|
|
NM_152564.5(VPS13B):c.7965T>C (p.Gly2655=)
|
rs758430817
|
0.00001
|
|
NM_152564.5(VPS13B):c.8361+12C>T
|
rs886062546
|
0.00001
|
|
NM_152564.5(VPS13B):c.8958T>G (p.Val2986=)
|
rs753530965
|
0.00001
|
|
NM_152564.5(VPS13B):c.9339T>A (p.Arg3113=)
|
rs78277780
|
0.00001
|
|
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=)
|
rs564362618
|
0.00001
|
|
NM_152783.5(D2HGDH):c.1446G>A (p.Lys482=)
|
rs763276027
|
0.00001
|
|
NM_152783.5(D2HGDH):c.963C>T (p.Val321=)
|
rs141524359
|
0.00001
|
|
NM_152906.7(TANGO2):c.711-11C>G
|
rs201850506
|
0.00001
|
|
NM_153252.5(BRWD3):c.3690A>G (p.Ala1230=)
|
rs797045419
|
0.00001
|
|
NM_153603.4(COG7):c.687+14C>T
|
rs139853094
|
0.00001
|
|
NM_153676.4(USH1C):c.2391G>A (p.Val797=)
|
rs375973884
|
0.00001
|
|
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr)
|
rs150593932
|
0.00001
|
|
NM_153676.4(USH1C):c.966G>C (p.Arg322=)
|
rs748749433
|
0.00001
|
|
NM_170606.3(KMT2C):c.5851G>A (p.Asp1951Asn)
|
rs781220804
|
0.00001
|
|
NM_170606.3(KMT2C):c.709A>G (p.Ile237Val)
|
rs587778510
|
0.00001
|
|
NM_172250.3(MMAA):c.129G>A (p.Pro43=)
|
rs779779664
|
0.00001
|
|
NM_172362.3(KCNH1):c.2054C>T (p.Thr685Met)
|
rs1349830428
|
0.00001
|
|
NM_173076.3(ABCA12):c.212T>A (p.Leu71Gln)
|
rs776056801
|
0.00001
|
|
NM_173076.3(ABCA12):c.899A>G (p.Tyr300Cys)
|
rs778915456
|
0.00001
|
|
NM_173660.5(DOK7):c.193C>T (p.Leu65=)
|
rs546630800
|
0.00001
|
|
NM_177402.5(SYT2):c.903C>T (p.Asp301=)
|
rs780359132
|
0.00001
|
|
NM_177438.3(DICER1):c.4888C>T (p.Arg1630Cys)
|
rs549532374
|
0.00001
|
|
NM_177438.3(DICER1):c.5010A>G (p.Glu1670=)
|
rs886050940
|
0.00001
|
|
NM_177438.3(DICER1):c.5365-9C>T
|
rs778669119
|
0.00001
|
|
NM_177438.3(DICER1):c.5626G>A (p.Gly1876Arg)
|
rs770962059
|
0.00001
|
|
NM_178161.3(PTF1A):c.499G>A (p.Ala167Thr)
|
rs565666569
|
0.00001
|
|
NM_182476.3(COQ6):c.982G>A (p.Ala328Thr)
|
rs564107029
|
0.00001
|
|
NM_182760.4(SUMF1):c.30T>C (p.Cys10=)
|
rs746169425
|
0.00001
|
|
NM_182760.4(SUMF1):c.447T>C (p.Ala149=)
|
rs750372409
|
0.00001
|
|
NM_182760.4(SUMF1):c.45G>A (p.Glu15=)
|
rs1460272243
|
0.00001
|
|
NM_182760.4(SUMF1):c.602+10G>T
|
rs376667963
|
0.00001
|
|
NM_182760.4(SUMF1):c.627G>C (p.Val209=)
|
rs748118171
|
0.00001
|
|
NM_182760.4(SUMF1):c.715C>T (p.Leu239=)
|
rs779864102
|
0.00001
|
|
NM_182894.3(VSX2):c.371-14C>T
|
rs750778630
|
0.00001
|
|
NM_182914.3(SYNE2):c.16605+10A>G
|
rs761193543
|
0.00001
|
|
NM_182914.3(SYNE2):c.16854G>A (p.Val5618=)
|
rs1490325276
|
0.00001
|
|
NM_182914.3(SYNE2):c.17832G>A (p.Ala5944=)
|
rs886050596
|
0.00001
|
|
NM_182914.3(SYNE2):c.18015T>C (p.His6005=)
|
rs1323946751
|
0.00001
|
|
NM_182914.3(SYNE2):c.3102C>T (p.Ser1034=)
|
rs886050580
|
0.00001
|
|
NM_182914.3(SYNE2):c.5835A>G (p.Leu1945=)
|
rs766666230
|
0.00001
|
|
NM_182961.4(SYNE1):c.26355C>T (p.His8785=)
|
rs771334693
|
0.00001
|
|
NM_183357.3(ADCY5):c.146C>T (p.Ser49Phe)
|
rs762609054
|
0.00001
|
|
NM_183357.3(ADCY5):c.150C>G (p.Ala50=)
|
rs1387460227
|
0.00001
|
|
NM_194248.3(OTOF):c.222C>G (p.Ser74Arg)
|
rs764474318
|
0.00001
|
|
NM_194248.3(OTOF):c.2248A>G (p.Lys750Glu)
|
rs551919295
|
0.00001
|
|
NM_194248.3(OTOF):c.2282G>A (p.Arg761Gln)
|
rs141544736
|
0.00001
|
|
NM_194248.3(OTOF):c.251T>C (p.Val84Ala)
|
rs727505096
|
0.00001
|
|
NM_194248.3(OTOF):c.2690G>A (p.Arg897Gln)
|
rs760896684
|
0.00001
|
|
NM_194248.3(OTOF):c.4474G>A (p.Val1492Met)
|
rs368297003
|
0.00001
|
|
NM_194248.3(OTOF):c.5553G>C (p.Leu1851=)
|
rs747844017
|
0.00001
|
|
NM_194248.3(OTOF):c.5632G>A (p.Val1878Met)
|
rs757360892
|
0.00001
|
|
NM_198282.4(STING1):c.40A>C (p.Arg14=)
|
rs761439213
|
0.00001
|
|
NM_198334.3(GANAB):c.292A>G (p.Met98Val)
|
rs762692505
|
0.00001
|
|
NM_198506.5(LRIT3):c.654C>T (p.Val218=)
|
rs763629262
|
0.00001
|
|
NM_198525.3(KIF7):c.1218C>G (p.Gly406=)
|
rs886051536
|
0.00001
|
|
NM_198525.3(KIF7):c.3112-10G>A
|
rs370548253
|
0.00001
|
|
NM_198525.3(KIF7):c.3477G>A (p.Glu1159=)
|
rs886192389
|
0.00001
|
|
NM_198525.3(KIF7):c.3894G>A (p.Ala1298=)
|
rs370333561
|
0.00001
|
|
NM_198525.3(KIF7):c.3957G>T (p.Gly1319=)
|
rs886051529
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.516G>A (p.Leu172=)
|
rs727504105
|
0.00001
|
|
NM_198904.4(GABRG2):c.1110T>C (p.Asp370=)
|
rs201824364
|
0.00001
|
|
NM_198904.4(GABRG2):c.1172G>A (p.Arg391His)
|
rs528036202
|
0.00001
|
|
NM_198904.4(GABRG2):c.1389G>A (p.Leu463=)
|
rs765904792
|
0.00001
|
|
NM_198904.4(GABRG2):c.375T>A (p.Arg125=)
|
rs767423340
|
0.00001
|
|
NM_198904.4(GABRG2):c.769+10A>G
|
rs765703079
|
0.00001
|
|
NM_198994.3(TGM6):c.573C>G (p.Leu191=)
|
rs1347908694
|
0.00001
|
|
NM_198999.3(SLC26A5):c.117T>G (p.Pro39=)
|
rs764308981
|
0.00001
|
|
NM_199242.3(UNC13D):c.156G>T (p.Arg52=)
|
rs111728477
|
0.00001
|
|
NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=)
|
rs866899109
|
0.00001
|
|
NM_199242.3(UNC13D):c.760C>T (p.Arg254Cys)
|
rs558726483
|
0.00001
|
|
NM_201253.3(CRB1):c.1752C>T (p.Asp584=)
|
rs750442312
|
0.00001
|
|
NM_201384.3(PLEC):c.3081+9C>T
|
rs371983298
|
0.00001
|
|
NM_201525.4(ADGRG1):c.1191C>T (p.Ala397=)
|
rs1367685651
|
0.00001
|
|
NM_201525.4(ADGRG1):c.1537C>T (p.Leu513=)
|
rs762771228
|
0.00001
|
|
NM_201525.4(ADGRG1):c.1578G>A (p.Thr526=)
|
rs727503955
|
0.00001
|
|
NM_205861.3(DHDDS):c.324-4T>G
|
rs747118618
|
0.00001
|
|
NM_205861.3(DHDDS):c.366C>T (p.Gly122=)
|
rs774001400
|
0.00001
|
|
NM_205861.3(DHDDS):c.57C>T (p.Ile19=)
|
rs981419090
|
0.00001
|
|
NM_205861.3(DHDDS):c.987C>T (p.Gly329=)
|
rs1381026387
|
0.00001
|
|
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys)
|
rs141943290
|
0.00001
|
|
NM_206933.4(USH2A):c.13577G>A (p.Arg4526Gln)
|
rs527644737
|
0.00001
|
|
NM_206933.4(USH2A):c.14600A>T (p.His4867Leu)
|
rs374096293
|
0.00001
|
|
NM_206933.4(USH2A):c.15052+8A>G
|
rs773109018
|
0.00001
|
|
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)
|
rs147509797
|
0.00001
|
|
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=)
|
rs139156019
|
0.00001
|
|
NM_206933.4(USH2A):c.3887T>C (p.Val1296Ala)
|
rs552551256
|
0.00001
|
|
NM_206933.4(USH2A):c.6153T>A (p.Thr2051=)
|
rs754250829
|
0.00001
|
|
NM_206933.4(USH2A):c.652-9T>G
|
rs1231791432
|
0.00001
|
|
NM_206933.4(USH2A):c.6958-10A>G
|
rs727504213
|
0.00001
|
|
NM_206937.2(LIG4):c.1020A>G (p.Gln340=)
|
rs535025599
|
0.00001
|
|
NM_206937.2(LIG4):c.1239A>G (p.Glu413=)
|
rs1342090676
|
0.00001
|
|
NM_206937.2(LIG4):c.1242A>C (p.Val414=)
|
rs150828164
|
0.00001
|
|
NM_206937.2(LIG4):c.1710T>C (p.Tyr570=)
|
rs763222026
|
0.00001
|
|
NM_206937.2(LIG4):c.713T>C (p.Ile238Thr)
|
rs201289944
|
0.00001
|
|
NM_207346.3(TSEN54):c.1074G>A (p.Glu358=)
|
rs775864125
|
0.00001
|
|
NM_207346.3(TSEN54):c.1527C>T (p.Asp509=)
|
rs201415896
|
0.00001
|
|
NM_207361.6(FREM2):c.7177G>A (p.Ala2393Thr)
|
rs769767420
|
0.00001
|
|
NM_212482.4(FN1):c.3951C>T (p.Asp1317=)
|
rs763439987
|
0.00001
|
|
NM_212482.4(FN1):c.4141C>T (p.Pro1381Ser)
|
rs754336717
|
0.00001
|
|
NC_000009.11:g.(?_101470679)_(101611374_?)dup
|
|
|
|
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=)
|
rs2071338251
|
|
|
NM_000018.4(ACADVL):c.1679-5del
|
rs1555528999
|
|
|
NM_000018.4(ACADVL):c.180G>C (p.Leu60=)
|
rs886053372
|
|
|
NM_000018.4(ACADVL):c.1881G>A (p.Gln627=)
|
rs931018661
|
|
|
NM_000018.4(ACADVL):c.477+17G>A
|
rs375076326
|
|
|
NM_000018.4(ACADVL):c.678C>A (p.Ala226=)
|
rs372114185
|
|
|
NM_000018.4(ACADVL):c.753-9C>T
|
rs1262931604
|
|
|
NM_000019.4(ACAT1):c.15G>C (p.Ala5=)
|
rs886047594
|
|
|
NM_000019.4(ACAT1):c.436-4G>C
|
rs3741050
|
|
|
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=)
|
rs1591367485
|
|
|
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)
|
rs2077610591
|
|
|
NM_000019.4(ACAT1):c.941-13T>C
|
rs760991373
|
|
|
NM_000022.4(ADA):c.445C>A (p.Arg149=)
|
rs121908733
|
|
|
NM_000022.4(ADA):c.708G>A (p.Leu236=)
|
rs757155433
|
|
|
NM_000022.4(ADA):c.825C>T (p.Asp275=)
|
rs778167423
|
|
|
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg)
|
rs573792379
|
|
|
NM_000023.4(SGCA):c.675C>T (p.Gly225=)
|
rs773985328
|
|
|
NM_000026.4(ADSL):c.1102-6C>G
|
rs758666194
|
|
|
NM_000027.4(AGA):c.128-7dup
|
rs1736960600
|
|
|
NM_000027.4(AGA):c.585T>C (p.His195=)
|
rs1736860088
|
|
|
NM_000030.3(AGXT):c.1065G>A (p.Thr355=)
|
rs143488099
|
|
|
NM_000030.3(AGXT):c.32C>A (p.Pro11His)
|
rs34116584
|
|
|
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr)
|
rs199826743
|
|
|
NM_000032.5(ALAS2):c.1695G>C (p.Glu565Asp)
|
|
|
|
NM_000032.5(ALAS2):c.98T>C (p.Phe33Ser)
|
|
|
|
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=)
|
rs1887821307
|
|
|
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=)
|
rs141446687
|
|
|
NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro)
|
rs782122122
|
|
|
NM_000035.4(ALDOB):c.178C>A (p.Arg60=)
|
rs118204429
|
|
|
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu)
|
rs200585150
|
|
|
NM_000035.4(ALDOB):c.264C>T (p.Asp88=)
|
rs200585150
|
|
|
NM_000035.4(ALDOB):c.282C>T (p.Phe94=)
|
rs549682194
|
|
|
NM_000035.4(ALDOB):c.486C>G (p.Leu162=)
|
rs773334784
|
|
|
NM_000035.4(ALDOB):c.486C>T (p.Leu162=)
|
rs773334784
|
|
|
NM_000037.4(ANK1):c.2098-5T>C
|
rs2150613009
|
|
|
NM_000038.6(APC):c.1773C>G (p.Ala591=)
|
rs1580603391
|
|
|
NM_000038.6(APC):c.420G>C (p.Glu140Asp)
|
rs202161017
|
|
|
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)
|
rs72541813
|
|
|
NM_000038.6(APC):c.532-14_532-12del
|
rs765893314
|
|
|
NM_000038.6(APC):c.5496T>C (p.Asp1832=)
|
rs1561600562
|
|
|
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)
|
rs587780602
|
|
|
NM_000038.6(APC):c.7079G>A (p.Gly2360Asp)
|
rs750960862
|
|
|
NM_000038.6(APC):c.730-3C>T
|
rs786203125
|
|
|
NM_000038.6(APC):c.7942G>A (p.Ala2648Thr)
|
rs1195417407
|
|
|
NM_000040.3(APOC3):c.56-15C>A
|
|
|
|
NM_000043.6(FAS):c.432C>T (p.Asp144=)
|
rs574338716
|
|
|
NM_000045.4(ARG1):c.745G>C (p.Val249Leu)
|
rs182650447
|
|
|
NM_000045.4(ARG1):c.804G>C (p.Gly268=)
|
rs747275658
|
|
|
NM_000045.4(ARG1):c.936C>T (p.His312=)
|
rs776119677
|
|
|
NM_000046.5(ARSB):c.1214-15A>T
|
rs1353542088
|
|
|
NM_000046.5(ARSB):c.666C>T (p.Leu222=)
|
rs1752122294
|
|
|
NM_000046.5(ARSB):c.951A>G (p.Arg317=)
|
rs1318270777
|
|
|
NM_000048.4(ASL):c.1095C>T (p.Ser365=)
|
rs749559501
|
|
|
NM_000048.4(ASL):c.1395G>A (p.Ter465=)
|
rs1339615185
|
|
|
NM_000048.4(ASL):c.402C>A (p.Gly134=)
|
rs1308519514
|
|
|
NM_000048.4(ASL):c.486G>A (p.Gln162=)
|
rs1786669549
|
|
|
NM_000048.4(ASL):c.99C>G (p.His33Gln)
|
rs142077823
|
|
|
NM_000049.4(ASPA):c.723T>C (p.Ala241=)
|
rs2073877008
|
|
|
NM_000051.4(ATM):c.1899-7C>A
|
rs1060501584
|
|
|
NM_000051.4(ATM):c.2112T>C (p.Asn704=)
|
rs2080317012
|
|
|
NM_000051.4(ATM):c.2251-14T>A
|
rs751677125
|
|
|
NM_000051.4(ATM):c.2377-6T>A
|
rs876660963
|
|
|
NM_000051.4(ATM):c.2467-8C>G
|
rs1425701157
|
|
|
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)
|
rs587778069
|
|
|
NM_000051.4(ATM):c.2945G>A (p.Arg982His)
|
rs749471737
|
|
|
NM_000051.4(ATM):c.2952A>G (p.Gln984=)
|
rs1476499901
|
|
|
NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe)
|
rs786202470
|
|
|
NM_000051.4(ATM):c.3258C>T (p.Arg1086=)
|
rs773277362
|
|
|
NM_000051.4(ATM):c.3284+8dup
|
rs886047611
|
|
|
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)
|
rs572564322
|
|
|
NM_000051.4(ATM):c.3403-4T>C
|
rs1591636158
|
|
|
NM_000051.4(ATM):c.3747-10C>G
|
rs775274473
|
|
|
NM_000051.4(ATM):c.398A>T (p.Asn133Ile)
|
rs730881330
|
|
|
NM_000051.4(ATM):c.3993+4T>C
|
rs2082390512
|
|
|
NM_000051.4(ATM):c.4299T>C (p.Tyr1433=)
|
rs886047612
|
|
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
|
|
NM_000051.4(ATM):c.5005+15T>A
|
rs377355762
|
|
|
NM_000051.4(ATM):c.5354C>A (p.Pro1785His)
|
rs1555106368
|
|
|
NM_000051.4(ATM):c.5475A>G (p.Gln1825=)
|
rs1555106560
|
|
|
NM_000051.4(ATM):c.6453-15C>T
|
rs763296454
|
|
|
NM_000051.4(ATM):c.6975G>A (p.Ala2325=)
|
rs556778314
|
|
|
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)
|
rs786203311
|
|
|
NM_000051.4(ATM):c.7370A>C (p.Glu2457Ala)
|
rs778482902
|
|
|
NM_000051.4(ATM):c.7629+12_7629+15del
|
rs1555124156
|
|
|
NM_000051.4(ATM):c.8011-6T>G
|
rs762092284
|
|
|
NM_000051.4(ATM):c.8419-7_8419-4del
|
rs730881306
|
|
|
NM_000051.4(ATM):c.846A>T (p.Leu282Phe)
|
rs754008850
|
|
|
NM_000051.4(ATM):c.8787-6C>T
|
rs1591313765
|
|
|
NM_000051.4(ATM):c.8987+5G>C
|
rs876660570
|
|
|
NM_000051.4(ATM):c.901+6A>C
|
rs1555067357
|
|
|
NM_000051.4(ATM):c.928A>G (p.Ser310Gly)
|
rs745773225
|
|
|
NM_000052.7(ATP7A):c.121-2del
|
rs1287511385
|
|
|
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
|
|
|
|
NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met)
|
|
|
|
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)
|
|
|
|
NM_000052.7(ATP7A):c.2464A>G (p.Ile822Val)
|
|
|
|
NM_000052.7(ATP7A):c.281C>T (p.Ala94Val)
|
|
|
|
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp)
|
rs149079962
|
|
|
NM_000053.4(ATP7B):c.1002T>C (p.Ser334=)
|
rs1951990469
|
|
|
NM_000053.4(ATP7B):c.1092C>G (p.Ala364=)
|
rs1482077950
|
|
|
NM_000053.4(ATP7B):c.1401T>G (p.Pro467=)
|
rs529527733
|
|
|
NM_000053.4(ATP7B):c.1869+18_1869+20del
|
rs758773114
|
|
|
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=)
|
rs574041847
|
|
|
NM_000053.4(ATP7B):c.2124C>A (p.Leu708=)
|
rs779988850
|
|
|
NM_000053.4(ATP7B):c.2241C>A (p.Ile747=)
|
rs757991922
|
|
|
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=)
|
rs750477816
|
|
|
NM_000053.4(ATP7B):c.2356-16del
|
rs1257703465
|
|
|
NM_000053.4(ATP7B):c.2356-9A>G
|
rs1339073174
|
|
|
NM_000053.4(ATP7B):c.2447+8_2447+9insAA
|
rs746283578
|
|
|
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)
|
rs746358240
|
|
|
NM_000053.4(ATP7B):c.2997C>T (p.Thr999=)
|
rs199581971
|
|
|
NM_000053.4(ATP7B):c.360C>T (p.Gly120=)
|
rs1952028232
|
|
|
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=)
|
rs377267217
|
|
|
NM_000053.4(ATP7B):c.3756C>T (p.Val1252=)
|
rs1395442643
|
|
|
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly)
|
rs557577836
|
|
|
NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=)
|
rs368801566
|
|
|
NM_000053.4(ATP7B):c.690T>C (p.Thr230=)
|
rs1033565003
|
|
|
NM_000057.4(BLM):c.2205A>G (p.Thr735=)
|
rs757134420
|
|
|
NM_000057.4(BLM):c.2583T>C (p.Asn861=)
|
rs1896651230
|
|
|
NM_000057.4(BLM):c.2824-7A>G
|
rs374616797
|
|
|
NM_000057.4(BLM):c.3039T>C (p.His1013=)
|
rs747406569
|
|
|
NM_000057.4(BLM):c.3340C>T (p.Leu1114=)
|
rs1567060305
|
|
|
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro)
|
rs771776126
|
|
|
NM_000057.4(BLM):c.3751+10C>G
|
rs199685140
|
|
|
NM_000057.4(BLM):c.3876T>C (p.Ala1292=)
|
rs1596273405
|
|
|
NM_000057.4(BLM):c.4251A>C (p.Ser1417=)
|
rs886051553
|
|
|
NM_000057.4(BLM):c.99-9_99-7del
|
rs1229333064
|
|
|
NM_000059.4(BRCA2):c.10253_10256del (p.Ile3418fs)
|
rs80359259
|
|
|
NM_000059.4(BRCA2):c.1056C>T (p.Tyr352=)
|
rs786201858
|
|
|
NM_000059.4(BRCA2):c.1077A>G (p.Glu359=)
|
rs1135401832
|
|
|
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)
|
rs80358507
|
|
|
NM_000059.4(BRCA2):c.3786A>T (p.Ser1262=)
|
rs1042077901
|
|
|
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala)
|
rs28897731
|
|
|
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)
|
rs431825334
|
|
|
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro)
|
rs80358852
|
|
|
NM_000059.4(BRCA2):c.6237G>A (p.Val2079=)
|
rs864622516
|
|
|
NM_000059.4(BRCA2):c.6554C>T (p.Ala2185Val)
|
rs980859921
|
|
|
NM_000059.4(BRCA2):c.8754+9G>A
|
rs749435255
|
|
|
NM_000059.4(BRCA2):c.9006A>T (p.Glu3002Asp)
|
rs80359153
|
|
|
NM_000059.4(BRCA2):c.9421G>A (p.Gly3141Arg)
|
rs1566259143
|
|
|
NM_000062.3(SERPING1):c.640A>T (p.Thr214Ser)
|
|
|
|
NM_000063.6(C2):c.1219+7C>T
|
rs1554282202
|
|
|
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn)
|
rs143202536
|
|
|
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)
|
rs150590855
|
|
|
NM_000069.3(CACNA1S):c.164C>T (p.Thr55Met)
|
rs549107212
|
|
|
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)
|
|
|
|
NM_000069.3(CACNA1S):c.1781G>T (p.Arg594Leu)
|
rs762032797
|
|
|
NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=)
|
rs200743095
|
|
|
NM_000069.3(CACNA1S):c.1889C>T (p.Pro630Leu)
|
|
|
|
NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys)
|
rs144590408
|
|
|
NM_000069.3(CACNA1S):c.2270G>A (p.Arg757Gln)
|
rs868409473
|
|
|
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu)
|
rs553593355
|
|
|
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met)
|
rs757840865
|
|
|
NM_000069.3(CACNA1S):c.3083C>T (p.Ala1028Val)
|
rs751604155
|
|
|
NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys)
|
|
|
|
NM_000069.3(CACNA1S):c.3256-13G>T
|
|
|
|
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser)
|
rs774300377
|
|
|
NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr)
|
rs199989324
|
|
|
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln)
|
rs201310235
|
|
|
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro)
|
rs201310235
|
|
|
NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala)
|
rs1189622818
|
|
|
NM_000069.3(CACNA1S):c.5207C>T (p.Ala1736Val)
|
|
|
|
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser)
|
rs200434921
|
|
|
NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln)
|
rs368214163
|
|
|
NM_000070.3(CAPN3):c.1002C>T (p.His334=)
|
rs374833797
|
|
|
NM_000070.3(CAPN3):c.1227A>T (p.Thr409=)
|
rs111806046
|
|
|
NM_000070.3(CAPN3):c.1251G>A (p.Thr417=)
|
rs151090625
|
|
|
NM_000070.3(CAPN3):c.1293G>A (p.Val431=)
|
rs1009544440
|
|
|
NM_000070.3(CAPN3):c.1355-6G>T
|
rs28364485
|
|
|
NM_000070.3(CAPN3):c.1395G>A (p.Leu465=)
|
rs760344791
|
|
|
NM_000070.3(CAPN3):c.1896G>A (p.Lys632=)
|
rs746786954
|
|
|
NM_000070.3(CAPN3):c.1902G>A (p.Lys634=)
|
rs2054086848
|
|
|
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=)
|
rs867628179
|
|
|
NM_000070.3(CAPN3):c.2148G>A (p.Glu716=)
|
rs770894443
|
|
|
NM_000070.3(CAPN3):c.222T>G (p.Leu74=)
|
rs551850600
|
|
|
NM_000070.3(CAPN3):c.2440-8_2440-7insA
|
rs1555423427
|
|
|
NM_000070.3(CAPN3):c.618G>A (p.Glu206=)
|
rs541597520
|
|
|
NM_000070.3(CAPN3):c.632+8A>G
|
rs2053447422
|
|
|
NM_000070.3(CAPN3):c.864A>G (p.Ala288=)
|
rs1555420768
|
|
|
NM_000070.3(CAPN3):c.946-9_946-5del
|
rs758101156
|
|
|
NM_000071.3(CBS):c.1017C>T (p.Ile339=)
|
rs773933333
|
|
|
NM_000071.3(CBS):c.1071C>T (p.Ala357=)
|
rs368206976
|
|
|
NM_000071.3(CBS):c.1146-6C>T
|
rs1981696579
|
|
|
NM_000071.3(CBS):c.612G>T (p.Val204=)
|
rs539670390
|
|
|
NM_000071.3(CBS):c.667-14C>G
|
rs1388184910
|
|
|
NM_000071.3(CBS):c.753G>T (p.Leu251=)
|
rs2146375662
|
|
|
NM_000071.3(CBS):c.825C>T (p.Cys275=)
|
rs764638041
|
|
|
NM_000071.3(CBS):c.829-8C>G
|
rs750081937
|
|
|
NM_000073.3(CD3G):c.243T>C (p.Pro81=)
|
rs200028255
|
|
|
NM_000078.3(CETP):c.1456G>A (p.Val486Met)
|
|
|
|
NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=)
|
rs17838545
|
|
|
NM_000079.4(CHRNA1):c.204G>A (p.Gln68=)
|
rs886043372
|
|
|
NM_000081.4(LYST):c.10341G>A (p.Glu3447=)
|
|
|
|
NM_000081.4(LYST):c.10740G>A (p.Leu3580=)
|
|
|
|
NM_000081.4(LYST):c.11038+11T>C
|
|
|
|
NM_000081.4(LYST):c.11076C>T (p.Asn3692=)
|
|
|
|
NM_000081.4(LYST):c.11229A>G (p.Arg3743=)
|
|
|
|
NM_000081.4(LYST):c.1722A>G (p.Leu574=)
|
|
|
|
NM_000081.4(LYST):c.1725G>A (p.Ser575=)
|
|
|
|
NM_000081.4(LYST):c.244C>T (p.Leu82=)
|
|
|
|
NM_000081.4(LYST):c.285T>C (p.Asp95=)
|
|
|
|
NM_000081.4(LYST):c.345A>G (p.Gln115=)
|
|
|
|
NM_000081.4(LYST):c.3712+12T>C
|
|
|
|
NM_000081.4(LYST):c.372A>G (p.Leu124=)
|
|
|
|
NM_000081.4(LYST):c.4053A>G (p.Ser1351=)
|
|
|
|
NM_000081.4(LYST):c.5461-14A>T
|
|
|
|
NM_000081.4(LYST):c.5583T>C (p.Ile1861=)
|
|
|
|
NM_000081.4(LYST):c.5634+11A>G
|
|
|
|
NM_000081.4(LYST):c.5674A>G (p.Met1892Val)
|
|
|
|
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
|
|
|
|
NM_000081.4(LYST):c.6744A>G (p.Leu2248=)
|
|
|
|
NM_000081.4(LYST):c.8152-8G>A
|
|
|
|
NM_000081.4(LYST):c.8742A>G (p.Lys2914=)
|
|
|
|
NM_000081.4(LYST):c.9162+15A>G
|
|
|
|
NM_000081.4(LYST):c.9244T>C (p.Leu3082=)
|
|
|
|
NM_000081.4(LYST):c.9969C>T (p.His3323=)
|
|
|
|
NM_000081.4(LYST):c.9990G>A (p.Ala3330=)
|
|
|
|
NM_000082.4(ERCC8):c.550+15T>C
|
rs1748965740
|
|
|
NM_000083.3(CLCN1):c.799C>T (p.Leu267=)
|
rs1563075864
|
|
|
NM_000085.5(CLCNKB):c.1631_1632delinsAT (p.Arg544His)
|
rs1553128179
|
|
|
NM_000085.5(CLCNKB):c.656-9C>T
|
|
|
|
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=)
|
rs886055332
|
|
|
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=)
|
rs777361888
|
|
|
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=)
|
rs1576471851
|
|
|
NM_000090.4(COL3A1):c.3201+10C>G
|
rs372405344
|
|
|
NM_000090.4(COL3A1):c.583-7T>C
|
rs886055330
|
|
|
NM_000091.5(COL4A3):c.1311G>T (p.Pro437=)
|
rs369557944
|
|
|
NM_000091.5(COL4A3):c.2657-6C>T
|
|
|
|
NM_000091.5(COL4A3):c.2794G>T (p.Ala932Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg)
|
rs55849096
|
|
|
NM_000091.5(COL4A3):c.4028-15T>C
|
rs764478470
|
|
|
NM_000091.5(COL4A3):c.4669G>C (p.Ala1557Pro)
|
|
|
|
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala)
|
rs773905198
|
|
|
NM_000091.5(COL4A3):c.766-5G>A
|
rs751236477
|
|
|
NM_000091.5(COL4A3):c.87+8G>C
|
|
|
|
NM_000092.5(COL4A4):c.1404A>G (p.Gln468=)
|
rs774673142
|
|
|
NM_000092.5(COL4A4):c.1757A>G (p.His586Arg)
|
|
|
|
NM_000092.5(COL4A4):c.2023A>G (p.Arg675Gly)
|
|
|
|
NM_000092.5(COL4A4):c.2060C>T (p.Pro687Leu)
|
|
|
|
NM_000092.5(COL4A4):c.2647C>A (p.Pro883Thr)
|
rs200761108
|
|
|
NM_000092.5(COL4A4):c.2647C>T (p.Pro883Ser)
|
|
|
|
NM_000092.5(COL4A4):c.2722C>T (p.Arg908Trp)
|
|
|
|
NM_000092.5(COL4A4):c.273A>G (p.Lys91=)
|
|
|
|
NM_000092.5(COL4A4):c.289C>T (p.Arg97Cys)
|
|
|
|
NM_000092.5(COL4A4):c.3309A>C (p.Gly1103=)
|
|
|
|
NM_000092.5(COL4A4):c.3676C>T (p.Arg1226Cys)
|
|
|
|
NM_000092.5(COL4A4):c.3973+17G>A
|
|
|
|
NM_000092.5(COL4A4):c.4091-12T>C
|
|
|
|
NM_000092.5(COL4A4):c.4349T>A (p.Ile1450Asn)
|
rs72969704
|
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
|
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu)
|
rs190148408
|
|
|
NM_000092.5(COL4A4):c.680G>A (p.Arg227His)
|
rs368248078
|
|
|
NM_000092.5(COL4A4):c.866G>A (p.Arg289His)
|
|
|
|
NM_000092.5(COL4A4):c.879T>A (p.Ser293=)
|
rs2150788345
|
|
|
NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met)
|
rs1339426358
|
|
|
NM_000093.5(COL5A1):c.175A>G (p.Thr59Ala)
|
rs751649145
|
|
|
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser)
|
rs148146480
|
|
|
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=)
|
rs200882719
|
|
|
NM_000094.4(COL7A1):c.1334G>A (p.Arg445Gln)
|
|
|
|
NM_000094.4(COL7A1):c.1612C>T (p.Arg538Cys)
|
|
|
|
NM_000094.4(COL7A1):c.2333G>C (p.Arg778Pro)
|
|
|
|
NM_000094.4(COL7A1):c.2382C>T (p.Ile794=)
|
rs1388911281
|
|
|
NM_000094.4(COL7A1):c.2543T>G (p.Val848Gly)
|
|
|
|
NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn)
|
rs538387822
|
|
|
NM_000094.4(COL7A1):c.2769G>A (p.Gly923=)
|
rs748086542
|
|
|
NM_000094.4(COL7A1):c.2791C>T (p.Arg931Cys)
|
rs143979792
|
|
|
NM_000094.4(COL7A1):c.2793C>T (p.Arg931=)
|
rs142681592
|
|
|
NM_000094.4(COL7A1):c.279C>T (p.Gly93=)
|
rs745864625
|
|
|
NM_000094.4(COL7A1):c.2903C>T (p.Ser968Leu)
|
|
|
|
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His)
|
rs570498790
|
|
|
NM_000094.4(COL7A1):c.317C>T (p.Ala106Val)
|
rs767643638
|
|
|
NM_000094.4(COL7A1):c.3211G>A (p.Ala1071Thr)
|
rs143245957
|
|
|
NM_000094.4(COL7A1):c.3364C>T (p.Arg1122Cys)
|
|
|
|
NM_000094.4(COL7A1):c.3785T>C (p.Met1262Thr)
|
|
|
|
NM_000094.4(COL7A1):c.3939C>T (p.Ala1313=)
|
rs141825319
|
|
|
NM_000094.4(COL7A1):c.4408C>T (p.Arg1470Trp)
|
rs769297158
|
|
|
NM_000094.4(COL7A1):c.5403A>G (p.Lys1801=)
|
rs1575449774
|
|
|
NM_000094.4(COL7A1):c.5425-6_5425-5del
|
rs762085901
|
|
|
NM_000094.4(COL7A1):c.5609G>A (p.Arg1870His)
|
|
|
|
NM_000094.4(COL7A1):c.6270T>G (p.Pro2090=)
|
rs2044195363
|
|
|
NM_000094.4(COL7A1):c.6457-13C>T
|
|
|
|
NM_000094.4(COL7A1):c.7215C>T (p.Phe2405=)
|
rs779587550
|
|
|
NM_000094.4(COL7A1):c.724G>A (p.Glu242Lys)
|
rs549872555
|
|
|
NM_000094.4(COL7A1):c.8094C>A (p.Gly2698=)
|
rs199936185
|
|
|
NM_000094.4(COL7A1):c.809C>T (p.Thr270Met)
|
|
|
|
NM_000094.4(COL7A1):c.831G>A (p.Pro277=)
|
rs749004650
|
|
|
NM_000094.4(COL7A1):c.8539C>G (p.Pro2847Ala)
|
rs140041143
|
|
|
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser)
|
rs140041143
|
|
|
NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys)
|
rs372166543
|
|
|
NM_000096.4(CP):c.1036+15C>T
|
|
|
|
NM_000098.3(CPT2):c.1041C>T (p.Gly347=)
|
rs985374504
|
|
|
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala)
|
rs141505320
|
|
|
NM_000101.4(CYBA):c.384C>T (p.Gly128=)
|
rs72547285
|
|
|
NM_000108.5(DLD):c.1465-7C>G
|
rs886061908
|
|
|
NM_000108.5(DLD):c.30C>A (p.Ser10=)
|
rs779166996
|
|
|
NM_000108.5(DLD):c.439-6G>C
|
rs369208046
|
|
|
NM_000108.5(DLD):c.597A>G (p.Thr199=)
|
rs768248572
|
|
|
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=)
|
rs1057515818
|
|
|
NM_000117.3(EMD):c.285T>C (p.Tyr95=)
|
rs2148128483
|
|
|
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln)
|
rs61749896
|
|
|
NM_000124.4(ERCC6):c.2287-4G>A
|
rs375617750
|
|
|
NM_000124.4(ERCC6):c.3004T>A (p.Tyr1002Asn)
|
|
|
|
NM_000124.4(ERCC6):c.3095C>G (p.Pro1032Arg)
|
|
|
|
NM_000124.4(ERCC6):c.3628A>G (p.Lys1210Glu)
|
|
|
|
NM_000124.4(ERCC6):c.4039A>G (p.Thr1347Ala)
|
|
|
|
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser)
|
rs574272317
|
|
|
NM_000124.4(ERCC6):c.803C>T (p.Ala268Val)
|
|
|
|
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser)
|
rs766256094
|
|
|
NM_000126.4(ETFA):c.351+12G>A
|
rs2039773989
|
|
|
NM_000126.4(ETFA):c.351+9G>A
|
rs2039774067
|
|
|
NM_000126.4(ETFA):c.366A>G (p.Arg122=)
|
rs2039718120
|
|
|
NM_000126.4(ETFA):c.36G>A (p.Arg12=)
|
rs1299355915
|
|
|
NM_000126.4(ETFA):c.66C>T (p.Thr22=)
|
rs370375322
|
|
|
NM_000126.4(ETFA):c.882+10C>T
|
rs2039064081
|
|
|
NM_000128.4(F11):c.1028+9T>G
|
rs376630194
|
|
|
NM_000128.4(F11):c.1560G>T (p.Gly520=)
|
rs794727084
|
|
|
NM_000128.4(F11):c.595+11A>G
|
|
|
|
NM_000130.5(F5):c.111T>A (p.Ala37=)
|
rs537081933
|
|
|
NM_000135.4(FANCA):c.1143G>A (p.Thr381=)
|
rs1800331
|
|
|
NM_000135.4(FANCA):c.1471-10C>G
|
rs368356709
|
|
|
NM_000135.4(FANCA):c.1518C>T (p.Leu506=)
|
rs781524409
|
|
|
NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe)
|
rs562319781
|
|
|
NM_000135.4(FANCA):c.1901-3C>A
|
rs17226526
|
|
|
NM_000135.4(FANCA):c.1901-9T>G
|
rs886052486
|
|
|
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala)
|
rs147300317
|
|
|
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser)
|
rs780667753
|
|
|
NM_000135.4(FANCA):c.2014+10G>T
|
rs1567620967
|
|
|
NM_000135.4(FANCA):c.2015-4G>T
|
rs373954227
|
|
|
NM_000135.4(FANCA):c.2223-8C>G
|
rs1598110961
|
|
|
NM_000135.4(FANCA):c.2248G>A (p.Val750Met)
|
rs747723074
|
|
|
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)
|
rs137913973
|
|
|
NM_000135.4(FANCA):c.2316+9C>T
|
rs776301232
|
|
|
NM_000135.4(FANCA):c.284-9G>C
|
rs367672895
|
|
|
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu)
|
rs149112292
|
|
|
NM_000135.4(FANCA):c.2904G>A (p.Ser968=)
|
rs568354015
|
|
|
NM_000135.4(FANCA):c.3267C>T (p.Val1089=)
|
rs994416299
|
|
|
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=)
|
rs886052482
|
|
|
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys)
|
rs751309143
|
|
|
NM_000135.4(FANCA):c.3639T>C (p.Pro1213=)
|
rs1567598479
|
|
|
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val)
|
rs545742908
|
|
|
NM_000135.4(FANCA):c.375C>T (p.Cys125=)
|
rs199793463
|
|
|
NM_000135.4(FANCA):c.377C>T (p.Thr126Met)
|
rs139160837
|
|
|
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=)
|
rs886052480
|
|
|
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr)
|
rs142919010
|
|
|
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro)
|
rs142919010
|
|
|
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys)
|
rs755375493
|
|
|
NM_000135.4(FANCA):c.402T>C (p.Pro134=)
|
rs745666586
|
|
|
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=)
|
rs2062057880
|
|
|
NM_000135.4(FANCA):c.4128T>C (p.Val1376=)
|
rs1209384219
|
|
|
NM_000135.4(FANCA):c.68C>T (p.Ala23Val)
|
rs776297241
|
|
|
NM_000135.4(FANCA):c.80-8C>G
|
rs749080227
|
|
|
NM_000135.4(FANCA):c.851G>C (p.Gly284Ala)
|
rs762079136
|
|
|
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn)
|
rs759630319
|
|
|
NM_000135.4(FANCA):c.964C>T (p.His322Tyr)
|
rs772768595
|
|
|
NM_000136.3(FANCC):c.1014G>A (p.Lys338=)
|
rs780776360
|
|
|
NM_000136.3(FANCC):c.345+4AG[2]
|
rs755657969
|
|
|
NM_000137.4(FAH):c.1152G>T (p.Leu384=)
|
rs886051497
|
|
|
NM_000137.4(FAH):c.147C>G (p.Leu49=)
|
rs886051496
|
|
|
NM_000137.4(FAH):c.192+9T>C
|
rs1386784352
|
|
|
NM_000137.4(FAH):c.249G>A (p.Val83=)
|
rs370095143
|
|
|
NM_000137.4(FAH):c.645G>T (p.Pro215=)
|
rs151221329
|
|
|
NM_000137.4(FAH):c.707-7_707-5del
|
rs779284513
|
|
|
NM_000137.4(FAH):c.90G>C (p.Pro30=)
|
rs202195651
|
|
|
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln)
|
rs368089138
|
|
|
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro)
|
rs1566913983
|
|
|
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile)
|
rs1488326228
|
|
|
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)
|
rs747867726
|
|
|
NM_000138.5(FBN1):c.6164-5T>C
|
rs2043085940
|
|
|
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)
|
rs363830
|
|
|
NM_000138.5(FBN1):c.69T>C (p.His23=)
|
rs2140787712
|
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
|
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr)
|
rs1280320763
|
|
|
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro)
|
rs1280320763
|
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
|
NM_000141.5(FGFR2):c.1086G>C (p.Ala362=)
|
rs151250769
|
|
|
NM_000141.5(FGFR2):c.110-22TC[3]
|
rs773932794
|
|
|
NM_000141.5(FGFR2):c.714G>A (p.Gly238=)
|
rs1276387170
|
|
|
NM_000142.5(FGFR3):c.1646-11C>A
|
rs763302590
|
|
|
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met)
|
rs199544087
|
|
|
NM_000142.5(FGFR3):c.188C>T (p.Pro63Leu)
|
rs371729802
|
|
|
NM_000142.5(FGFR3):c.2362G>A (p.Val788Met)
|
|
|
|
NM_000143.4(FH):c.1119C>T (p.Asn373=)
|
rs542014575
|
|
|
NM_000143.4(FH):c.1237-50TC[21]
|
rs144131869
|
|
|
NM_000143.4(FH):c.1237-50TC[22]
|
rs144131869
|
|
|
NM_000143.4(FH):c.1390+5G>A
|
rs1352808353
|
|
|
NM_000143.4(FH):c.186G>A (p.Val62=)
|
|
|
|
NM_000143.4(FH):c.576C>G (p.Pro192=)
|
rs1413797947
|
|
|
NM_000143.4(FH):c.739-17TTTTC[2]
|
rs745617145
|
|
|
NM_000147.5(FUCA1):c.389+15G>C
|
rs1395597191
|
|
|
NM_000147.5(FUCA1):c.489T>C (p.Asp163=)
|
rs1639604269
|
|
|
NM_000147.5(FUCA1):c.4C>A (p.Arg2=)
|
rs2070955
|
|
|
NM_000151.4(G6PC1):c.230+11T>C
|
rs756151664
|
|
|
NM_000151.4(G6PC1):c.646C>T (p.Leu216=)
|
rs749665480
|
|
|
NM_000151.4(G6PC1):c.993G>C (p.Ala331=)
|
rs369238258
|
|
|
NM_000152.5(GAA):c.1076-15G>C
|
rs370414054
|
|
|
NM_000152.5(GAA):c.1416C>G (p.Thr472=)
|
rs368492669
|
|
|
NM_000152.5(GAA):c.1434G>A (p.Gly478=)
|
rs886043285
|
|
|
NM_000152.5(GAA):c.1636+9G>T
|
rs200302174
|
|
|
NM_000152.5(GAA):c.1638G>A (p.Gly546=)
|
rs1260256483
|
|
|
NM_000152.5(GAA):c.1722C>T (p.Leu574=)
|
rs561357893
|
|
|
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
|
rs149384771
|
|
|
NM_000152.5(GAA):c.1851G>A (p.Val617=)
|
rs886042906
|
|
|
NM_000152.5(GAA):c.1889-5C>T
|
rs794727115
|
|
|
NM_000152.5(GAA):c.1941C>T (p.Cys647=)
|
rs776948121
|
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
|
NM_000152.5(GAA):c.2112A>C (p.Ala704=)
|
rs1449566083
|
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
|
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)
|
rs553430197
|
|
|
NM_000152.5(GAA):c.2307G>A (p.Leu769=)
|
rs372800172
|
|
|
NM_000152.5(GAA):c.2332-16C>T
|
rs2039383167
|
|
|
NM_000152.5(GAA):c.2391C>T (p.Ala797=)
|
rs767494597
|
|
|
NM_000152.5(GAA):c.2482-5T>C
|
rs1290870969
|
|
|
NM_000152.5(GAA):c.2647-23del
|
rs749000061
|
|
|
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
|
rs2039418269
|
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
|
NM_000152.5(GAA):c.2800-9C>G
|
rs886053547
|
|
|
NM_000152.5(GAA):c.531C>T (p.Asn177=)
|
rs886053544
|
|
|
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792
|
|
|
NM_000152.5(GAA):c.750C>T (p.Thr250=)
|
rs2143846283
|
|
|
NM_000152.5(GAA):c.858+10C>T
|
rs758283022
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC
|
rs3071247
|
|
|
NM_000153.4(GALC):c.1110C>T (p.Tyr370=)
|
rs372793797
|
|
|
NM_000153.4(GALC):c.1758T>C (p.Gly586=)
|
rs746189262
|
|
|
NM_000153.4(GALC):c.329-10_329-8del
|
rs770389075
|
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
|
NM_000153.4(GALC):c.516C>T (p.Ala172=)
|
rs1248283732
|
|
|
NM_000153.4(GALC):c.65G>A (p.Gly22Asp)
|
rs372285275
|
|
|
NM_000153.4(GALC):c.678T>C (p.Ser226=)
|
rs1595226323
|
|
|
NM_000154.2(GALK1):c.117C>T (p.Asn39=)
|
rs1599336904
|
|
|
NM_000154.2(GALK1):c.396A>G (p.Ser132=)
|
rs766401384
|
|
|
NM_000154.2(GALK1):c.787C>T (p.Leu263=)
|
rs886053420
|
|
|
NM_000154.2(GALK1):c.864G>A (p.Thr288=)
|
rs201247556
|
|
|
NM_000155.4(GALT):c.450T>A (p.Val150=)
|
rs886063884
|
|
|
NM_000155.4(GALT):c.630G>A (p.Lys210=)
|
rs367543260
|
|
|
NM_000158.4(GBE1):c.1656A>C (p.Pro552=)
|
rs1340229013
|
|
|
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
|
rs774354874
|
|
|
NM_000158.4(GBE1):c.333G>A (p.Ser111=)
|
rs374518318
|
|
|
NM_000158.4(GBE1):c.969T>C (p.Asp323=)
|
rs555689284
|
|
|
NM_000159.4(GCDH):c.1167G>A (p.Leu389=)
|
rs398123191
|
|
|
NM_000159.4(GCDH):c.1287G>A (p.Thr429=)
|
rs141819282
|
|
|
NM_000159.4(GCDH):c.957-6A>C
|
rs748270195
|
|
|
NM_000161.3(GCH1):c.507G>C (p.Ala169=)
|
rs150158277
|
|
|
NM_000162.5(GCK):c.680-14G>C
|
rs577968084
|
|
|
NM_000162.5(GCK):c.680-19C>T
|
|
|
|
NM_000162.5(GCK):c.835G>C (p.Glu279Gln)
|
rs104894005
|
|
|
NM_000162.5(GCK):c.852C>G (p.Pro284=)
|
|
|
|
NM_000166.6(GJB1):c.147T>C (p.Ser49=)
|
rs2092542885
|
|
|
NM_000166.6(GJB1):c.659G>A (p.Arg220Gln)
|
rs1057524799
|
|
|
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)
|
rs144994244
|
|
|
NM_000169.3(GLA):c.802-10T>G
|
rs1928176118
|
|
|
NM_000170.3(GLDC):c.1553C>G (p.Pro518Arg)
|
rs761064507
|
|
|
NM_000170.3(GLDC):c.1554G>C (p.Pro518=)
|
rs377219563
|
|
|
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser)
|
rs141601131
|
|
|
NM_000170.3(GLDC):c.1927-4G>A
|
rs576723612
|
|
|
NM_000170.3(GLDC):c.2148C>T (p.Leu716=)
|
rs367750112
|
|
|
NM_000170.3(GLDC):c.2310C>T (p.Ile770=)
|
rs765661419
|
|
|
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser)
|
rs567167527
|
|
|
NM_000170.3(GLDC):c.2569+8T>G
|
rs894742250
|
|
|
NM_000170.3(GLDC):c.2859C>G (p.Thr953=)
|
rs1817083513
|
|
|
NM_000170.3(GLDC):c.609C>T (p.Ala203=)
|
rs201699152
|
|
|
NM_000170.3(GLDC):c.861+11C>G
|
rs757254927
|
|
|
NM_000178.4(GSS):c.1260C>G (p.Val420=)
|
rs369657861
|
|
|
NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup)
|
rs770237165
|
|
|
NM_000181.4(GUSB):c.45G>A (p.Leu15=)
|
rs886062404
|
|
|
NM_000186.4(CFH):c.2956+13G>A
|
rs572034879
|
|
|
NM_000186.4(CFH):c.7C>G (p.Leu3Val)
|
rs139254423
|
|
|
NM_000187.4(HGD):c.474G>A (p.Pro158=)
|
rs2293734
|
|
|
NM_000187.4(HGD):c.880-4A>G
|
rs781667761
|
|
|
NM_000190.4(HMBS):c.962G>A (p.Arg321His)
|
rs150428209
|
|
|
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=)
|
rs112508527
|
|
|
NM_000191.3(HMGCL):c.630C>T (p.Thr210=)
|
rs886046313
|
|
|
NM_000191.3(HMGCL):c.708C>T (p.Asp236=)
|
rs886046312
|
|
|
NM_000191.3(HMGCL):c.750+14T>A
|
rs778868742
|
|
|
NM_000191.3(HMGCL):c.765C>T (p.Val255=)
|
rs778296169
|
|
|
NM_000191.3(HMGCL):c.795C>G (p.Gly265=)
|
rs1488079271
|
|
|
NM_000195.5(HPS1):c.1531C>A (p.Arg511=)
|
rs147748659
|
|
|
NM_000195.5(HPS1):c.1653T>G (p.Thr551=)
|
rs765995574
|
|
|
NM_000195.5(HPS1):c.1744-5C>T
|
rs369429846
|
|
|
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)
|
rs1554892764
|
|
|
NM_000199.5(SGSH):c.506+13G>T
|
rs201177560
|
|
|
NM_000199.5(SGSH):c.658G>T (p.Val220Leu)
|
rs150508741
|
|
|
NM_000199.5(SGSH):c.89-18_89-15del
|
rs768357480
|
|
|
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
|
rs143223388
|
|
|
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)
|
|
|
|
NM_000203.5(IDUA):c.1149C>T (p.Arg383=)
|
rs767632084
|
|
|
NM_000203.5(IDUA):c.1491G>A (p.Thr497=)
|
rs374102243
|
|
|
NM_000203.5(IDUA):c.1525-3dup
|
rs762593235
|
|
|
NM_000203.5(IDUA):c.1650+12T>C
|
rs1715248390
|
|
|
NM_000203.5(IDUA):c.1651-7C>A
|
rs934115207
|
|
|
NM_000203.5(IDUA):c.1727+9G>T
|
rs771420258
|
|
|
NM_000203.5(IDUA):c.618G>A (p.Ser206=)
|
rs377312287
|
|
|
NM_000203.5(IDUA):c.793-9C>T
|
rs375798875
|
|
|
NM_000203.5(IDUA):c.837C>T (p.Val279=)
|
rs758749484
|
|
|
NM_000206.3(IL2RG):c.318A>G (p.Leu106=)
|
rs1389116834
|
|
|
NM_000208.4(INSR):c.3165G>A (p.Ala1055=)
|
rs201445608
|
|
|
NM_000208.4(INSR):c.653-9T>C
|
rs868296217
|
|
|
NM_000211.5(ITGB2):c.1084-5C>T
|
rs781696813
|
|
|
NM_000211.5(ITGB2):c.1464G>A (p.Arg488=)
|
rs202051683
|
|
|
NM_000211.5(ITGB2):c.1944G>A (p.Pro648=)
|
rs139840790
|
|
|
NM_000211.5(ITGB2):c.1968C>T (p.Pro656=)
|
rs766106686
|
|
|
NM_000211.5(ITGB2):c.591G>A (p.Glu197=)
|
rs768833543
|
|
|
NM_000212.3(ITGB3):c.2249G>A (p.Arg750Gln)
|
|
|
|
NM_000213.5(ITGB4):c.2521G>A (p.Ala841Thr)
|
|
|
|
NM_000213.5(ITGB4):c.3265G>C (p.Gly1089Arg)
|
|
|
|
NM_000213.5(ITGB4):c.3810G>A (p.Met1270Ile)
|
|
|
|
NM_000213.5(ITGB4):c.4709-8C>A
|
rs371797130
|
|
|
NM_000213.5(ITGB4):c.599C>T (p.Pro200Leu)
|
rs148770294
|
|
|
NM_000214.3(JAG1):c.2579G>A (p.Gly860Glu)
|
rs762121866
|
|
|
NM_000215.4(JAK3):c.1786+13C>T
|
rs781208496
|
|
|
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)
|
rs149452625
|
|
|
NM_000215.4(JAK3):c.297G>A (p.Leu99=)
|
rs3212716
|
|
|
NM_000215.4(JAK3):c.648G>T (p.Thr216=)
|
rs200376035
|
|
|
NM_000215.4(JAK3):c.938G>A (p.Gly313Glu)
|
rs200319694
|
|
|
NM_000218.3(KCNQ1):c.1251+13C>T
|
rs201364493
|
|
|
NM_000222.3(KIT):c.1185C>A (p.Ser395=)
|
rs755864184
|
|
|
NM_000228.3(LAMB3):c.3228+11G>A
|
rs1420480218
|
|
|
NM_000231.3(SGCG):c.507G>T (p.Gly169=)
|
rs199905729
|
|
|
NM_000232.5(SGCB):c.111C>T (p.Asn37=)
|
rs2109376000
|
|
|
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)
|
rs398123263
|
|
|
NM_000232.5(SGCB):c.90G>A (p.Arg30=)
|
rs11541942
|
|
|
NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn)
|
rs140691492
|
|
|
NM_000235.4(LIPA):c.230-15A>G
|
rs199978109
|
|
|
NM_000235.4(LIPA):c.615C>T (p.Ser205=)
|
rs143930279
|
|
|
NM_000235.4(LIPA):c.676-14T>A
|
rs886047471
|
|
|
NM_000237.3(LPL):c.250-8_250-6del
|
|
|
|
NM_000237.3(LPL):c.290C>T (p.Ala97Val)
|
rs201946950
|
|
|
NM_000238.4(KCNH2):c.2692+8G>A
|
rs200032281
|
|
|
NM_000238.4(KCNH2):c.77-5C>T
|
rs72549419
|
|
|
NM_000243.3(MEFV):c.1005C>T (p.Pro335=)
|
rs567739580
|
|
|
NM_000243.3(MEFV):c.1092G>A (p.Pro364=)
|
rs11466022
|
|
|
NM_000243.3(MEFV):c.1522C>T (p.Leu508=)
|
rs199937453
|
|
|
NM_000243.3(MEFV):c.1759+11C>T
|
rs370349451
|
|
|
NM_000243.3(MEFV):c.2271C>T (p.Ser757=)
|
rs772754956
|
|
|
NM_000243.3(MEFV):c.330G>A (p.Leu110=)
|
rs104895177
|
|
|
NM_000243.3(MEFV):c.342G>A (p.Lys114=)
|
rs981883034
|
|
|
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)
|
rs147557169
|
|
|
NM_000243.3(MEFV):c.414A>T (p.Gly138=)
|
rs224224
|
|
|
NM_000243.3(MEFV):c.564C>G (p.Pro188=)
|
rs775755423
|
|
|
NM_000243.3(MEFV):c.564C>T (p.Pro188=)
|
rs775755423
|
|
|
NM_000243.3(MEFV):c.933G>A (p.Ala311=)
|
rs774547197
|
|
|
NM_000246.4(CIITA):c.1044G>T (p.Thr348=)
|
rs140683241
|
|
|
NM_000246.4(CIITA):c.2142A>G (p.Gln714=)
|
rs188988714
|
|
|
NM_000246.4(CIITA):c.2148C>T (p.Phe716=)
|
rs762483007
|
|
|
NM_000246.4(CIITA):c.2259C>T (p.Gly753=)
|
rs754313400
|
|
|
NM_000246.4(CIITA):c.2331G>A (p.Ser777=)
|
rs34685848
|
|
|
NM_000246.4(CIITA):c.2658-10C>T
|
rs1337213724
|
|
|
NM_000246.4(CIITA):c.2832G>T (p.Ser944=)
|
rs766538754
|
|
|
NM_000246.4(CIITA):c.3123G>C (p.Ser1041=)
|
rs138925894
|
|
|
NM_000246.4(CIITA):c.3261C>G (p.Ala1087=)
|
rs149640268
|
|
|
NM_000246.4(CIITA):c.366A>T (p.Ile122=)
|
rs535705691
|
|
|
NM_000246.4(CIITA):c.492C>G (p.Pro164=)
|
rs142478532
|
|
|
NM_000246.4(CIITA):c.649T>C (p.Leu217=)
|
rs773897183
|
|
|
NM_000257.4(MYH7):c.4354-7C>T
|
rs370093487
|
|
|
NM_000260.4(MYO7A):c.133_153dup
|
|
|
|
NM_000260.4(MYO7A):c.1343+8G>T
|
rs2276278
|
|
|
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln)
|
rs782023308
|
|
|
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)
|
rs111033416
|
|
|
NM_000260.4(MYO7A):c.2120G>A (p.Arg707His)
|
rs782176754
|
|
|
NM_000260.4(MYO7A):c.2405G>A (p.Arg802His)
|
|
|
|
NM_000260.4(MYO7A):c.2468G>A (p.Arg823His)
|
rs533027065
|
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
|
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu)
|
rs565162134
|
|
|
NM_000260.4(MYO7A):c.3388C>T (p.Leu1130=)
|
rs782397974
|
|
|
NM_000260.4(MYO7A):c.3927G>T (p.Val1309=)
|
rs181729570
|
|
|
NM_000260.4(MYO7A):c.4152+6dup
|
rs1956152029
|
|
|
NM_000260.4(MYO7A):c.4153-7C>A
|
rs369489756
|
|
|
NM_000260.4(MYO7A):c.4153-8C>A
|
rs143216377
|
|
|
NM_000260.4(MYO7A):c.4153-8C>G
|
rs143216377
|
|
|
NM_000260.4(MYO7A):c.4441+8G>A
|
rs766743441
|
|
|
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=)
|
rs111033287
|
|
|
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)
|
rs111033287
|
|
|
NM_000260.4(MYO7A):c.5263G>A (p.Ala1755Thr)
|
rs762131185
|
|
|
NM_000260.4(MYO7A):c.5349C>A (p.Asp1783Glu)
|
rs201008835
|
|
|
NM_000260.4(MYO7A):c.5494C>A (p.Arg1832=)
|
rs748080151
|
|
|
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val)
|
rs948962
|
|
|
NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile)
|
rs544709413
|
|
|
NM_000260.4(MYO7A):c.984G>A (p.Leu328=)
|
|
|
|
NM_000262.3(NAGA):c.486C>G (p.Pro162=)
|
rs760003063
|
|
|
NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu)
|
rs1263611523
|
|
|
NM_000264.5(PTCH1):c.2703+12G>A
|
rs1295275193
|
|
|
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met)
|
rs201605273
|
|
|
NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=)
|
rs758229027
|
|
|
NM_000264.5(PTCH1):c.40GGC[3] (p.Gly17del)
|
rs756897237
|
|
|
NM_000264.5(PTCH1):c.431G>A (p.Arg144His)
|
rs1316474105
|
|
|
NM_000264.5(PTCH1):c.63C>T (p.Ile21=)
|
rs1284183739
|
|
|
NM_000270.4(PNP):c.159C>A (p.Ile53=)
|
rs367991537
|
|
|
NM_000271.5(NPC1):c.1089G>T (p.Ala363=)
|
rs901122746
|
|
|
NM_000271.5(NPC1):c.180+13T>C
|
rs556162692
|
|
|
NM_000271.5(NPC1):c.180+8C>A
|
rs778096289
|
|
|
NM_000271.5(NPC1):c.1947+10G>T
|
rs71534236
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGC
|
rs547107514
|
|
|
NM_000271.5(NPC1):c.1947+12G>C
|
rs886053666
|
|
|
NM_000271.5(NPC1):c.1947+13G>T
|
rs568769965
|
|
|
NM_000271.5(NPC1):c.2079G>A (p.Leu693=)
|
rs2058754303
|
|
|
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)
|
rs145362908
|
|
|
NM_000271.5(NPC1):c.2973G>A (p.Gln991=)
|
rs201118975
|
|
|
NM_000271.5(NPC1):c.3321C>A (p.Gly1107=)
|
rs376210355
|
|
|
NM_000271.5(NPC1):c.3693C>T (p.Ala1231=)
|
rs1374064168
|
|
|
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr)
|
rs111256741
|
|
|
NM_000271.5(NPC1):c.984C>T (p.Ser328=)
|
rs760861487
|
|
|
NM_000274.4(OAT):c.123T>C (p.Asp41=)
|
rs376051303
|
|
|
NM_000274.4(OAT):c.521-6T>G
|
rs369018496
|
|
|
NM_000274.4(OAT):c.966A>T (p.Thr322=)
|
rs1951417723
|
|
|
NM_000275.3(OCA2):c.1015G>T (p.Ala339Ser)
|
rs148468031
|
|
|
NM_000277.3(PAH):c.1065+9T>G
|
rs1874730997
|
|
|
NM_000277.3(PAH):c.1066-7C>T
|
rs1242756437
|
|
|
NM_000277.3(PAH):c.285C>T (p.Ile95=)
|
rs1877427309
|
|
|
NM_000277.3(PAH):c.353-7_353-5dup
|
rs1452763334
|
|
|
NM_000277.3(PAH):c.456T>C (p.Pro152=)
|
rs377244118
|
|
|
NM_000277.3(PAH):c.54T>C (p.Phe18=)
|
rs1878411076
|
|
|
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile)
|
rs61749895
|
|
|
NM_000282.4(PCCA):c.1884G>A (p.Gln628=)
|
rs552141237
|
|
|
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)
|
rs765771203
|
|
|
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu)
|
rs142646074
|
|
|
NM_000282.4(PCCA):c.2040+9TG[3]
|
rs751014655
|
|
|
NM_000282.4(PCCA):c.42C>T (p.Ala14=)
|
rs200714802
|
|
|
NM_000282.4(PCCA):c.914+8T>A
|
rs543352333
|
|
|
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)
|
rs146927771
|
|
|
NM_000282.4(PCCA):c.999G>A (p.Gly333=)
|
rs2063427075
|
|
|
NM_000288.4(PEX7):c.130+11G>T
|
rs886061119
|
|
|
NM_000288.4(PEX7):c.130+13C>A
|
rs886061120
|
|
|
NM_000289.6(PFKM):c.1063-6C>A
|
rs371033104
|
|
|
NM_000289.6(PFKM):c.1063-7C>T
|
rs776228408
|
|
|
NM_000289.6(PFKM):c.1192-3_1192-2del
|
rs780969059
|
|
|
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)
|
rs199869174
|
|
|
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)
|
rs34667348
|
|
|
NM_000294.3(PHKG2):c.271+14C>T
|
rs572169140
|
|
|
NM_000294.3(PHKG2):c.556+11C>G
|
rs2053379816
|
|
|
NM_000294.3(PHKG2):c.927+13G>A
|
rs371298131
|
|
|
NM_000294.3(PHKG2):c.96-7C>G
|
rs898984695
|
|
|
NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=)
|
rs201774333
|
|
|
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg)
|
rs112030253
|
|
|
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp)
|
rs112030253
|
|
|
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=)
|
rs199422210
|
|
|
NM_000298.6(PKLR):c.1270-5T>G
|
|
|
|
NM_000301.5(PLG):c.185+14C>A
|
rs369616302
|
|
|
NM_000301.5(PLG):c.2302G>A (p.Glu768Lys)
|
|
|
|
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=)
|
rs565216977
|
|
|
NM_000302.4(PLOD1):c.169-11T>C
|
rs760584840
|
|
|
NM_000303.3(PMM2):c.129G>A (p.Val43=)
|
rs777608895
|
|
|
NM_000303.3(PMM2):c.347+15A>C
|
rs751222355
|
|
|
NM_000303.3(PMM2):c.552T>C (p.Pro184=)
|
rs560182098
|
|
|
NM_000304.4(PMP22):c.79-16A>C
|
rs373417110
|
|
|
NM_000306.4(POU1F1):c.666-8C>G
|
rs182127067
|
|
|
NM_000308.4(CTSA):c.54G>C (p.Leu18=)
|
rs181943893
|
|
|
NM_000310.4(PPT1):c.234+8G>A
|
rs746750426
|
|
|
NM_000310.4(PPT1):c.690C>T (p.Phe230=)
|
rs1648754113
|
|
|
NM_000310.4(PPT1):c.705T>C (p.Ile235=)
|
rs1057515448
|
|
|
NM_000310.4(PPT1):c.894T>C (p.Tyr298=)
|
rs781759073
|
|
|
NM_000314.8(PTEN):c.1027-4C>G
|
rs587782788
|
|
|
NM_000314.8(PTEN):c.42G>A (p.Arg14=)
|
rs1064794513
|
|
|
NM_000314.8(PTEN):c.493-7C>T
|
rs1554900492
|
|
|
NM_000314.8(PTEN):c.79+7A>T
|
rs374331677
|
|
|
NM_000314.8(PTEN):c.80-5C>T
|
rs1060503842
|
|
|
NM_000316.3(PTH1R):c.1716C>T (p.Asp572=)
|
rs200062157
|
|
|
NM_000316.3(PTH1R):c.182G>A (p.Ser61Asn)
|
rs187585108
|
|
|
NM_000320.3(QDPR):c.296-15G>T
|
rs776479029
|
|
|
NM_000320.3(QDPR):c.297T>C (p.Ser99=)
|
rs1309099253
|
|
|
NM_000321.3(RB1):c.1422-4T>G
|
rs201554179
|
|
|
NM_000321.3(RB1):c.452T>A (p.Leu151Gln)
|
rs2138087581
|
|
|
NM_000321.3(RB1):c.616T>C (p.Leu206=)
|
rs886050270
|
|
|
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met)
|
rs76989855
|
|
|
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)
|
rs542296728
|
|
|
NM_000327.4(ROM1):c.213G>A (p.Ala71=)
|
rs886042979
|
|
|
NM_000330.4(RS1):c.185-3221G>A
|
rs374054249
|
|
|
NM_000334.4(SCN4A):c.1560G>C (p.Pro520=)
|
rs373819078
|
|
|
NM_000335.5(SCN5A):c.1372C>T (p.Arg458Cys)
|
rs752130196
|
|
|
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)
|
rs730880211
|
|
|
NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val)
|
rs36210423
|
|
|
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del)
|
rs397517953
|
|
|
NM_000335.5(SCN5A):c.1891-8G>C
|
rs12720064
|
|
|
NM_000335.5(SCN5A):c.2103G>T (p.Pro701=)
|
|
|
|
NM_000335.5(SCN5A):c.2415G>A (p.Ser805=)
|
rs754312452
|
|
|
NM_000335.5(SCN5A):c.3267G>C (p.Pro1089=)
|
rs752999955
|
|
|
NM_000335.5(SCN5A):c.331T>C (p.Leu111=)
|
|
|
|
NM_000335.5(SCN5A):c.3388-10_3388-9del
|
rs2061494723
|
|
|
NM_000335.5(SCN5A):c.393-5C>T
|
rs368678204
|
|
|
NM_000335.5(SCN5A):c.6007T>G (p.Phe2003Val)
|
rs41311117
|
|
|
NM_000335.5(SCN5A):c.704-14C>A
|
|
|
|
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met)
|
rs149460434
|
|
|
NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=)
|
rs886056069
|
|
|
NM_000342.4(SLC4A1):c.1337T>C (p.Val446Ala)
|
|
|
|
NM_000342.4(SLC4A1):c.1742C>A (p.Thr581Asn)
|
|
|
|
NM_000342.4(SLC4A1):c.2344C>T (p.Arg782Cys)
|
rs148317876
|
|
|
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys)
|
rs538778224
|
|
|
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met)
|
rs148170067
|
|
|
NM_000342.4(SLC4A1):c.82G>A (p.Glu28Lys)
|
|
|
|
NM_000348.4(SRD5A2):c.446-10_446-8del
|
rs758063160
|
|
|
NM_000350.3(ABCA4):c.1356+14dup
|
rs886046567
|
|
|
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln)
|
rs145614671
|
|
|
NM_000350.3(ABCA4):c.4540-5C>G
|
rs1476415689
|
|
|
NM_000350.3(ABCA4):c.5880C>T (p.Val1960=)
|
rs746250336
|
|
|
NM_000350.3(ABCA4):c.618C>T (p.Ser206=)
|
rs61748536
|
|
|
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=)
|
rs61751379
|
|
|
NM_000350.3(ABCA4):c.6693C>T (p.Ile2231=)
|
rs1801626
|
|
|
NM_000350.3(ABCA4):c.677G>A (p.Arg226His)
|
rs144310835
|
|
|
NM_000350.3(ABCA4):c.677G>T (p.Arg226Leu)
|
rs144310835
|
|
|
NM_000350.3(ABCA4):c.791G>A (p.Arg264His)
|
rs567985213
|
|
|
NM_000350.3(ABCA4):c.870G>A (p.Arg290=)
|
rs794727902
|
|
|
NM_000352.6(ABCC8):c.1672-20A>T
|
rs931436550
|
|
|
NM_000352.6(ABCC8):c.1818-7del
|
rs1955709311
|
|
|
NM_000352.6(ABCC8):c.2041-12C>T
|
rs201419039
|
|
|
NM_000352.6(ABCC8):c.2259A>G (p.Pro753=)
|
rs1955020359
|
|
|
NM_000352.6(ABCC8):c.2292-16G>A
|
|
|
|
NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=)
|
rs565968675
|
|
|
NM_000352.6(ABCC8):c.3651-4C>G
|
rs1954058406
|
|
|
NM_000352.6(ABCC8):c.3988+19G>C
|
rs576340695
|
|
|
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)
|
rs138642224
|
|
|
NM_000352.6(ABCC8):c.413-5G>A
|
rs186946111
|
|
|
NM_000352.6(ABCC8):c.4281C>T (p.Asp1427=)
|
rs1334003978
|
|
|
NM_000353.3(TAT):c.558C>T (p.Tyr186=)
|
rs886052274
|
|
|
NM_000355.4(TCN2):c.1092G>A (p.Glu364=)
|
rs886057397
|
|
|
NM_000355.4(TCN2):c.810G>T (p.Ala270=)
|
rs61748898
|
|
|
NM_000358.3(TGFBI):c.1504A>G (p.Met502Val)
|
rs188677757
|
|
|
NM_000360.4(TH):c.1105-5C>G
|
rs535794692
|
|
|
NM_000360.4(TH):c.1119G>A (p.Thr373=)
|
rs143405115
|
|
|
NM_000360.4(TH):c.1170C>G (p.Ala390=)
|
rs199839852
|
|
|
NM_000360.4(TH):c.120C>T (p.Ser40=)
|
rs766048900
|
|
|
NM_000360.4(TH):c.1215G>A (p.Glu405=)
|
rs1590165298
|
|
|
NM_000360.4(TH):c.1227T>C (p.Ile409=)
|
rs546226132
|
|
|
NM_000360.4(TH):c.1287A>C (p.Ser429=)
|
rs1590165106
|
|
|
NM_000360.4(TH):c.12C>A (p.Pro4=)
|
rs147131010
|
|
|
NM_000360.4(TH):c.1442G>A (p.Gly481Asp)
|
rs564949885
|
|
|
NM_000360.4(TH):c.202C>T (p.Leu68=)
|
rs372393199
|
|
|
NM_000360.4(TH):c.81G>T (p.Glu27Asp)
|
rs139742336
|
|
|
NM_000360.4(TH):c.951G>A (p.Ala317=)
|
rs1590167106
|
|
|
NM_000360.4(TH):c.978-6G>A
|
rs75487597
|
|
|
NM_000363.5(TNNI3):c.157C>T (p.Leu53=)
|
rs763981651
|
|
|
NM_000368.5(TSC1):c.1113C>A (p.His371Gln)
|
rs771217333
|
|
|
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile)
|
rs118203334
|
|
|
NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys)
|
rs77464996
|
|
|
NM_000368.5(TSC1):c.1256C>A (p.Pro419His)
|
rs878853959
|
|
|
NM_000368.5(TSC1):c.1332A>C (p.Ser444=)
|
rs773003016
|
|
|
NM_000368.5(TSC1):c.1582_1602del (p.Gly528_Glu534del)
|
rs766376606
|
|
|
NM_000368.5(TSC1):c.1679G>A (p.Gly560Asp)
|
rs1395737285
|
|
|
NM_000368.5(TSC1):c.1720A>G (p.Thr574Ala)
|
rs1454859974
|
|
|
NM_000368.5(TSC1):c.1721C>T (p.Thr574Ile)
|
rs548002938
|
|
|
NM_000368.5(TSC1):c.1734C>T (p.Thr578=)
|
rs1251871091
|
|
|
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr)
|
rs786203799
|
|
|
NM_000368.5(TSC1):c.1802C>T (p.Pro601Leu)
|
rs543077026
|
|
|
NM_000368.5(TSC1):c.1916G>A (p.Gly639Asp)
|
rs372583166
|
|
|
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu)
|
rs1269162063
|
|
|
NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg)
|
rs796053460
|
|
|
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln)
|
rs761281095
|
|
|
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg)
|
rs1369700443
|
|
|
NM_000368.5(TSC1):c.2635A>G (p.Met879Val)
|
rs778416424
|
|
|
NM_000368.5(TSC1):c.2683G>A (p.Val895Ile)
|
rs576476807
|
|
|
NM_000368.5(TSC1):c.3086G>T (p.Ser1029Ile)
|
rs796053450
|
|
|
NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser)
|
rs747053008
|
|
|
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln)
|
rs550526986
|
|
|
NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn)
|
rs1263464680
|
|
|
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe)
|
rs755799702
|
|
|
NM_000368.5(TSC1):c.391A>G (p.Thr131Ala)
|
rs1564499857
|
|
|
NM_000368.5(TSC1):c.395G>C (p.Gly132Ala)
|
rs397514784
|
|
|
NM_000368.5(TSC1):c.445C>G (p.Gln149Glu)
|
rs118203384
|
|
|
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr)
|
rs1279777367
|
|
|
NM_000368.5(TSC1):c.931C>A (p.Pro311Thr)
|
rs1332186256
|
|
|
NM_000368.5(TSC1):c.938C>T (p.Ser313Phe)
|
rs766317920
|
|
|
NM_000369.5(TSHR):c.2098A>G (p.Lys700Glu)
|
|
|
|
NM_000375.3(UROS):c.512T>C (p.Val171Ala)
|
rs17173752
|
|
|
NM_000381.4(MID1):c.1510T>C (p.Leu504=)
|
rs797045704
|
|
|
NM_000381.4(MID1):c.1841C>T (p.Ser614Phe)
|
|
|
|
NM_000382.3(ALDH3A2):c.153+8C>A
|
rs1410085369
|
|
|
NM_000383.4(AIRE):c.1095+23_1095+64del
|
rs1037154559
|
|
|
NM_000383.4(AIRE):c.1476C>A (p.Pro492=)
|
rs72650679
|
|
|
NM_000384.3(APOB):c.10740C>G (p.Asn3580Lys)
|
rs150312765
|
|
|
NM_000384.3(APOB):c.10811C>A (p.Ala3604Glu)
|
rs776815102
|
|
|
NM_000384.3(APOB):c.12005C>T (p.Ala4002Val)
|
rs369364335
|
|
|
NM_000384.3(APOB):c.12309G>C (p.Lys4103Asn)
|
rs574791609
|
|
|
NM_000384.3(APOB):c.1568T>C (p.Ile523Thr)
|
rs781234577
|
|
|
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
|
|
|
|
NM_000384.3(APOB):c.307T>C (p.Tyr103His)
|
|
|
|
NM_000384.3(APOB):c.4056_4064dup (p.Gly1354_Leu1356dup)
|
rs777844352
|
|
|
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
|
|
|
|
NM_000384.3(APOB):c.5689C>T (p.Arg1897Cys)
|
rs189341276
|
|
|
NM_000384.3(APOB):c.6161T>G (p.Ile2054Ser)
|
rs538245770
|
|
|
NM_000384.3(APOB):c.649C>T (p.Pro217Ser)
|
rs573308525
|
|
|
NM_000384.3(APOB):c.656G>T (p.Arg219Leu)
|
rs201606169
|
|
|
NM_000384.3(APOB):c.7540G>A (p.Glu2514Lys)
|
rs1216733455
|
|
|
NM_000384.3(APOB):c.7726C>T (p.Arg2576Cys)
|
rs767146440
|
|
|
NM_000384.3(APOB):c.8045G>T (p.Ser2682Ile)
|
rs375053331
|
|
|
NM_000384.3(APOB):c.8226G>T (p.Gln2742His)
|
rs376773500
|
|
|
NM_000384.3(APOB):c.9221A>G (p.Tyr3074Cys)
|
rs372902533
|
|
|
NM_000384.3(APOB):c.952C>A (p.Pro318Thr)
|
rs758678209
|
|
|
NM_000387.6(SLC25A20):c.105+7_105+10dup
|
rs775942451
|
|
|
NM_000391.4(TPP1):c.244C>T (p.Leu82=)
|
rs794727623
|
|
|
NM_000391.4(TPP1):c.887-6_887-5del
|
rs886048541
|
|
|
NM_000392.5(ABCC2):c.1434G>A (p.Ala478=)
|
rs4267009
|
|
|
NM_000392.5(ABCC2):c.1446C>T (p.Thr482=)
|
rs113646094
|
|
|
NM_000392.5(ABCC2):c.2034C>T (p.Ser678=)
|
rs1554850241
|
|
|
NM_000392.5(ABCC2):c.2620+10_2620+12del
|
rs764566414
|
|
|
NM_000392.5(ABCC2):c.2700C>T (p.Ser900=)
|
rs1184984382
|
|
|
NM_000392.5(ABCC2):c.2955G>A (p.Ala985=)
|
rs139082536
|
|
|
NM_000392.5(ABCC2):c.3057G>A (p.Gln1019=)
|
rs144521346
|
|
|
NM_000392.5(ABCC2):c.3525C>G (p.Ala1175=)
|
rs1554853606
|
|
|
NM_000392.5(ABCC2):c.417G>T (p.Ser139=)
|
rs145350474
|
|
|
NM_000392.5(ABCC2):c.4449C>T (p.Phe1483=)
|
rs756299268
|
|
|
NM_000392.5(ABCC2):c.601C>T (p.Leu201=)
|
rs749655460
|
|
|
NM_000392.5(ABCC2):c.636C>A (p.Ile212=)
|
rs1564673185
|
|
|
NM_000400.4(ERCC2):c.2191-11G>A
|
rs1568530396
|
|
|
NM_000400.4(ERCC2):c.718+8G>A
|
|
|
|
NM_000412.5(HRG):c.99del (p.Ala34fs)
|
rs563237107
|
|
|
NM_000414.4(HSD17B4):c.1901G>A (p.Arg634His)
|
|
|
|
NM_000417.3(IL2RA):c.257-11A>G
|
rs929482812
|
|
|
NM_000417.3(IL2RA):c.777C>A (p.Leu259=)
|
rs554680869
|
|
|
NM_000419.5(ITGA2B):c.188+8del
|
rs560275529
|
|
|
NM_000419.5(ITGA2B):c.2946G>A (p.Val982=)
|
|
|
|
NM_000432.4(MYL2):c.402+8G>T
|
rs886048959
|
|
|
NM_000433.4(NCF2):c.1291-15C>G
|
rs886045654
|
|
|
NM_000435.3(NOTCH3):c.1749G>A (p.Val583=)
|
|
|
|
NM_000435.3(NOTCH3):c.2926G>A (p.Val976Ile)
|
rs771899820
|
|
|
NM_000435.3(NOTCH3):c.3148C>T (p.Arg1050Trp)
|
|
|
|
NM_000435.3(NOTCH3):c.4627C>A (p.Leu1543Met)
|
rs111838442
|
|
|
NM_000435.3(NOTCH3):c.506G>A (p.Arg169His)
|
|
|
|
NM_000435.3(NOTCH3):c.5942G>A (p.Arg1981His)
|
|
|
|
NM_000435.3(NOTCH3):c.6233G>A (p.Arg2078Gln)
|
|
|
|
NM_000441.2(SLC26A4):c.1572C>T (p.Ile524=)
|
rs1562837305
|
|
|
NM_000441.2(SLC26A4):c.2320-4A>G
|
rs727503432
|
|
|
NM_000441.2(SLC26A4):c.732C>G (p.Thr244=)
|
rs2129311968
|
|
|
NM_000443.4(ABCB4):c.1413C>T (p.Ile471=)
|
rs771303478
|
|
|
NM_000443.4(ABCB4):c.207A>G (p.Ser69=)
|
rs914166042
|
|
|
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=)
|
rs8187802
|
|
|
NM_000443.4(ABCB4):c.303G>A (p.Ser101=)
|
rs886044650
|
|
|
NM_000443.4(ABCB4):c.3244C>T (p.Leu1082=)
|
rs1562950567
|
|
|
NM_000443.4(ABCB4):c.3816C>T (p.Val1272=)
|
rs1029350022
|
|
|
NM_000452.3(SLC10A2):c.269T>C (p.Phe90Ser)
|
rs199894506
|
|
|
NM_000452.3(SLC10A2):c.39T>C (p.Val13=)
|
rs201994393
|
|
|
NM_000452.3(SLC10A2):c.39T>G (p.Val13=)
|
rs201994393
|
|
|
NM_000455.5(STK11):c.1002C>T (p.Ser334=)
|
rs1057521267
|
|
|
NM_000455.5(STK11):c.1063G>A (p.Asp355Asn)
|
rs769403473
|
|
|
NM_000455.5(STK11):c.1068C>G (p.Ile356Met)
|
rs187744790
|
|
|
NM_000455.5(STK11):c.1109-4C>A
|
rs1407794756
|
|
|
NM_000455.5(STK11):c.120C>T (p.Arg40=)
|
rs878853984
|
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
|
NM_000455.5(STK11):c.1236C>T (p.Asn412=)
|
rs1158714606
|
|
|
NM_000455.5(STK11):c.1244G>A (p.Arg415His)
|
rs775978755
|
|
|
NM_000455.5(STK11):c.1283C>G (p.Ser428Trp)
|
rs587781537
|
|
|
NM_000455.5(STK11):c.189G>A (p.Val63=)
|
rs1342321548
|
|
|
NM_000455.5(STK11):c.248A>G (p.Lys83Arg)
|
rs374006397
|
|
|
NM_000455.5(STK11):c.345T>C (p.Asp115=)
|
rs2145420737
|
|
|
NM_000455.5(STK11):c.375-5C>T
|
rs1057517626
|
|
|
NM_000455.5(STK11):c.464+14G>A
|
rs587782421
|
|
|
NM_000455.5(STK11):c.464+15C>T
|
rs1057521355
|
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
|
NM_000455.5(STK11):c.489C>T (p.Gly163=)
|
rs1060499959
|
|
|
NM_000455.5(STK11):c.564C>T (p.Gly188=)
|
rs786201344
|
|
|
NM_000455.5(STK11):c.579C>A (p.Ser193=)
|
rs730881961
|
|
|
NM_000455.5(STK11):c.598-11C>T
|
rs587782431
|
|
|
NM_000455.5(STK11):c.618G>C (p.Ala206=)
|
rs370976710
|
|
|
NM_000455.5(STK11):c.693C>T (p.Phe231=)
|
rs1568708275
|
|
|
NM_000455.5(STK11):c.69C>T (p.Asp23=)
|
rs1599914867
|
|
|
NM_000455.5(STK11):c.735-16_735-15del
|
rs775965325
|
|
|
NM_000455.5(STK11):c.735-6_735-2del
|
rs759090799
|
|
|
NM_000455.5(STK11):c.840C>T (p.Pro280=)
|
rs1471868090
|
|
|
NM_000455.5(STK11):c.863-14C>G
|
rs756001994
|
|
|
NM_000455.5(STK11):c.863-3C>T
|
rs1599928254
|
|
|
NM_000455.5(STK11):c.863-5C>T
|
rs1599928248
|
|
|
NM_000455.5(STK11):c.863-5_863-3del
|
rs764739106
|
|
|
NM_000455.5(STK11):c.864G>A (p.Gly288=)
|
rs2080787350
|
|
|
NM_000455.5(STK11):c.894C>G (p.Phe298Leu)
|
rs199681533
|
|
|
NM_000455.5(STK11):c.920+7_920+8delinsCA
|
rs1057517545
|
|
|
NM_000455.5(STK11):c.942T>C (p.Pro314=)
|
rs1256260277
|
|
|
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
|
|
|
|
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
|
|
|
|
NM_000458.4(HNF1B):c.1207-7C>T
|
rs1215174368
|
|
|
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=)
|
rs761684626
|
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
|
NM_000458.4(HNF1B):c.657C>G (p.Ser219=)
|
rs148713761
|
|
|
NM_000465.4(BARD1):c.215+13G>A
|
rs886055601
|
|
|
NM_000465.4(BARD1):c.215+9T>G
|
rs1559441723
|
|
|
NM_000465.4(BARD1):c.216-14T>C
|
rs775103922
|
|
|
NM_000465.4(BARD1):c.45C>A (p.Arg15=)
|
rs786201402
|
|
|
NM_000465.4(BARD1):c.903G>A (p.Glu301=)
|
rs1694982551
|
|
|
NM_000465.4(BARD1):c.93C>G (p.Arg31=)
|
rs778803692
|
|
|
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn)
|
rs138905930
|
|
|
NM_000466.3(PEX1):c.129+10C>T
|
rs886062508
|
|
|
NM_000466.3(PEX1):c.129+8G>A
|
rs1793393956
|
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
|
NM_000466.3(PEX1):c.1804-12A>G
|
rs143041528
|
|
|
NM_000466.3(PEX1):c.1901-14T>C
|
rs1792111444
|
|
|
NM_000466.3(PEX1):c.2784-7T>C
|
rs777893142
|
|
|
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr)
|
rs566068815
|
|
|
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=)
|
rs1030151030
|
|
|
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=)
|
rs886062501
|
|
|
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser)
|
rs751506204
|
|
|
NM_000466.3(PEX1):c.96G>A (p.Pro32=)
|
rs1445565547
|
|
|
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)
|
|
|
|
NM_000475.5(NR0B1):c.1219A>G (p.Thr407Ala)
|
|
|
|
NM_000478.6(ALPL):c.1503C>T (p.Ser501=)
|
rs1644757548
|
|
|
NM_000478.6(ALPL):c.793-10T>C
|
rs1114167436
|
|
|
NM_000478.6(ALPL):c.921G>A (p.Pro307=)
|
rs1553414111
|
|
|
NM_000481.4(AMT):c.1112G>A (p.Arg371His)
|
rs147006017
|
|
|
NM_000484.4(APP):c.819CAC[8] (p.Thr280dup)
|
rs527890624
|
|
|
NM_000487.6(ARSA):c.1210+13C>T
|
rs6151426
|
|
|
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu)
|
rs6151428
|
|
|
NM_000487.6(ARSA):c.276C>T (p.Gly92=)
|
rs978006787
|
|
|
NM_000489.6(ATRX):c.1509A>G (p.Gln503=)
|
rs1039587651
|
|
|
NM_000489.6(ATRX):c.1842C>T (p.Gly614=)
|
rs2071364653
|
|
|
NM_000489.6(ATRX):c.2592G>T (p.Gly864=)
|
rs782526944
|
|
|
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)
|
|
|
|
NM_000489.6(ATRX):c.39A>G (p.Thr13=)
|
rs1244422748
|
|
|
NM_000492.4(CFTR):c.1209+18A>C
|
rs193922499
|
|
|
NM_000492.4(CFTR):c.1209+80G>A
|
rs948980243
|
|
|
NM_000492.4(CFTR):c.1254T>C (p.Asn418=)
|
rs62469440
|
|
|
NM_000492.4(CFTR):c.1278C>T (p.Asp426=)
|
rs2896225
|
|
|
NM_000492.4(CFTR):c.1311T>C (p.Gly437=)
|
rs1562895049
|
|
|
NM_000492.4(CFTR):c.1446T>A (p.Ile482=)
|
rs914422460
|
|
|
NM_000492.4(CFTR):c.1602A>G (p.Ala534=)
|
rs1584810152
|
|
|
NM_000492.4(CFTR):c.164+9A>T
|
rs397508245
|
|
|
NM_000492.4(CFTR):c.2001C>T (p.His667=)
|
rs772786141
|
|
|
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu)
|
rs397508338
|
|
|
NM_000492.4(CFTR):c.2490+7A>G
|
rs751864459
|
|
|
NM_000492.4(CFTR):c.2587C>T (p.Leu863=)
|
|
|
|
NM_000492.4(CFTR):c.2620-12G>T
|
|
|
|
NM_000492.4(CFTR):c.2657+17C>T
|
rs368543375
|
|
|
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)
|
rs201864483
|
|
|
NM_000492.4(CFTR):c.273+8T>A
|
rs1189108407
|
|
|
NM_000492.4(CFTR):c.3368-4A>G
|
rs748811222
|
|
|
NM_000492.4(CFTR):c.3717+14A>G
|
|
|
|
NM_000492.4(CFTR):c.379T>C (p.Leu127=)
|
rs2116670348
|
|
|
NM_000492.4(CFTR):c.3874-27TTC[2]
|
rs397508623
|
|
|
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)
|
rs113857788
|
|
|
NM_000492.4(CFTR):c.4243-7del
|
rs878854021
|
|
|
NM_000492.4(CFTR):c.53+9G>T
|
rs745414764
|
|
|
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile)
|
rs397508751
|
|
|
NM_000492.4(CFTR):c.579+8C>A
|
|
|
|
NM_000492.4(CFTR):c.927C>T (p.Ala309=)
|
rs1800084
|
|
|
NM_000493.4(COL10A1):c.720G>A (p.Pro240=)
|
rs112875740
|
|
|
NM_000494.4(COL17A1):c.1339G>T (p.Gly447Cys)
|
rs200223042
|
|
|
NM_000497.4(CYP11B1):c.240-18_240-17delinsAA
|
rs1586561494
|
|
|
NM_000498.3(CYP11B2):c.1035G>C (p.Leu345=)
|
rs780878883
|
|
|
NM_000501.4(ELN):c.483C>A (p.Pro161=)
|
rs150690195
|
|
|
NM_000503.6(EYA1):c.647C>G (p.Pro216Arg)
|
rs200923204
|
|
|
NM_000506.5(F2):c.45G>A (p.Leu15=)
|
rs886048333
|
|
|
NM_000507.4(FBP1):c.826-15G>T
|
rs148942437
|
|
|
NM_000507.4(FBP1):c.826-7T>C
|
rs1827646865
|
|
|
NM_000507.4(FBP1):c.835C>T (p.Leu279=)
|
rs760291471
|
|
|
NM_000512.5(GALNS):c.1140-15C>T
|
rs1910644710
|
|
|
NM_000512.5(GALNS):c.1410G>A (p.Ser470=)
|
rs763263800
|
|
|
NM_000512.5(GALNS):c.177G>A (p.Leu59=)
|
|
|
|
NM_000515.5(GH1):c.16C>A (p.Arg6=)
|
rs140576665
|
|
|
NM_000515.5(GH1):c.363T>C (p.Ser121=)
|
rs137882374
|
|
|
NM_000516.7(GNAS):c.213-5A>G
|
rs763548893
|
|
|
NM_000518.5(HBB):c.*56A>G
|
rs537944366
|
|
|
NM_000518.5(HBB):c.24G>A (p.Glu8=)
|
|
|
|
NM_000518.5(HBB):c.255C>A (p.Thr85=)
|
rs1334966870
|
|
|
NM_000518.5(HBB):c.315+9A>G
|
rs1277597344
|
|
|
NM_000518.5(HBB):c.316-100T>A
|
rs1847534694
|
|
|
NM_000518.5(HBB):c.316-109C>T
|
rs1554917650
|
|
|
NM_000518.5(HBB):c.316-114C>T
|
rs1003790835
|
|
|
NM_000518.5(HBB):c.316-128G>C
|
rs1291160651
|
|
|
NM_000518.5(HBB):c.316-141G>A
|
rs1011427406
|
|
|
NM_000518.5(HBB):c.316-148G>C
|
rs1847536038
|
|
|
NM_000518.5(HBB):c.316-179A>T
|
|
|
|
NM_000518.5(HBB):c.316-198G>A
|
rs547258651
|
|
|
NM_000518.5(HBB):c.316-210T>A
|
rs1847537565
|
|
|
NM_000518.5(HBB):c.316-27T>G
|
rs1280140490
|
|
|
NM_000518.5(HBB):c.316-28G>C
|
rs771736852
|
|
|
NM_000518.5(HBB):c.316-336del
|
rs1251286087
|
|
|
NM_000518.5(HBB):c.316-42del
|
rs746631999
|
|
|
NM_000518.5(HBB):c.316-7C>G
|
rs34483965
|
|
|
NM_000518.5(HBB):c.316-85A>G
|
rs1847534399
|
|
|
NM_000518.5(HBB):c.316-96G>A
|
rs193922561
|
|
|
NM_000518.5(HBB):c.316-99del
|
rs1257175417
|
|
|
NM_000518.5(HBB):c.33C>A (p.Ala11=)
|
rs35799536
|
|
|
NM_000518.5(HBB):c.92+13G>T
|
rs753444453
|
|
|
NM_000518.5(HBB):c.93-14T>C
|
rs1428777319
|
|
|
NM_000518.5(HBB):c.93-38G>A
|
|
|
|
NM_000518.5(HBB):c.93-6C>T
|
rs1554918048
|
|
|
NM_000520.6(HEXA):c.1146+18A>G
|
rs1555472543
|
|
|
NM_000520.6(HEXA):c.1421+7del
|
rs747378954
|
|
|
NM_000520.6(HEXA):c.460-19C>T
|
rs1680245631
|
|
|
NM_000521.4(HEXB):c.150C>T (p.Ala50=)
|
rs779421706
|
|
|
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr)
|
rs778119481
|
|
|
NM_000521.4(HEXB):c.1613+14del
|
rs754704434
|
|
|
NM_000521.4(HEXB):c.42G>A (p.Leu14=)
|
rs1580377030
|
|
|
NM_000521.4(HEXB):c.670-14_670-13del
|
rs886060751
|
|
|
NM_000522.5(HOXA13):c.351_377del (p.Ala125_Ala133del)
|
rs1195806602
|
|
|
NM_000522.5(HOXA13):c.360_377del (p.Ala128_Ala133del)
|
rs35861510
|
|
|
NM_000527.5(LDLR):c.1358+10G>A
|
|
|
|
NM_000527.5(LDLR):c.1359-6C>T
|
|
|
|
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr)
|
rs137853960
|
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
|
NM_000527.5(LDLR):c.1586+12C>T
|
|
|
|
NM_000527.5(LDLR):c.1836C>A (p.Ala612=)
|
rs143872778
|
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
|
NM_000527.5(LDLR):c.1846-9C>A
|
rs1568610732
|
|
|
NM_000527.5(LDLR):c.1863A>G (p.Thr621=)
|
rs768509914
|
|
|
NM_000527.5(LDLR):c.191-15C>G
|
rs749245318
|
|
|
NM_000527.5(LDLR):c.2140+14C>T
|
rs756150298
|
|
|
NM_000527.5(LDLR):c.2141-7C>A
|
rs2147272729
|
|
|
NM_000527.5(LDLR):c.2205C>T (p.Ala735=)
|
rs763213863
|
|
|
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
|
|
|
|
NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln)
|
rs1555808091
|
|
|
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn)
|
rs150104358
|
|
|
NM_000527.5(LDLR):c.2389+7G>A
|
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
|
NM_000527.5(LDLR):c.396G>A (p.Arg132=)
|
rs2077269758
|
|
|
NM_000527.5(LDLR):c.621C>G (p.Gly207=)
|
rs121908044
|
|
|
NM_000527.5(LDLR):c.690C>T (p.Asn230=)
|
rs879254643
|
|
|
NM_000527.5(LDLR):c.695-10T>G
|
|
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
|
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)
|
rs117880912
|
|
|
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)
|
rs762375074
|
|
|
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)
|
rs775200333
|
|
|
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=)
|
rs774396746
|
|
|
NM_000528.4(MAN2B1):c.1398G>T (p.Ala466=)
|
rs774396746
|
|
|
NM_000528.4(MAN2B1):c.2267+8dup
|
rs572289342
|
|
|
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=)
|
rs1184081650
|
|
|
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=)
|
rs750997069
|
|
|
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=)
|
rs148108322
|
|
|
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=)
|
rs1376771729
|
|
|
NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=)
|
rs886054228
|
|
|
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=)
|
rs886054233
|
|
|
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg)
|
rs28926178
|
|
|
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys)
|
rs1383238492
|
|
|
NM_000530.8(MPZ):c.585-7_585-5del
|
rs770501358
|
|
|
NM_000530.8(MPZ):c.646-7C>G
|
rs377495735
|
|
|
NM_000532.5(PCCB):c.1452A>G (p.Ala484=)
|
rs781556055
|
|
|
NM_000532.5(PCCB):c.555G>C (p.Thr185=)
|
rs543691110
|
|
|
NM_000532.5(PCCB):c.763+3GA[4]
|
rs1553778916
|
|
|
NM_000539.3(RHO):c.937-6T>A
|
rs543521798
|
|
|
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu)
|
rs137932199
|
|
|
NM_000540.3(RYR1):c.10263G>A (p.Ala3421=)
|
rs778171066
|
|
|
NM_000540.3(RYR1):c.10564C>A (p.Leu3522Met)
|
rs200144997
|
|
|
NM_000540.3(RYR1):c.10740G>A (p.Pro3580=)
|
|
|
|
NM_000540.3(RYR1):c.10803C>A (p.Ala3601=)
|
rs141542477
|
|
|
NM_000540.3(RYR1):c.10824+13G>A
|
rs756468318
|
|
|
NM_000540.3(RYR1):c.11292C>T (p.Tyr3764=)
|
rs886054401
|
|
|
NM_000540.3(RYR1):c.11325C>T (p.Ala3775=)
|
|
|
|
NM_000540.3(RYR1):c.11779-11G>A
|
|
|
|
NM_000540.3(RYR1):c.11907+8G>A
|
rs886054402
|
|
|
NM_000540.3(RYR1):c.12084G>T (p.Ser4028=)
|
rs571477269
|
|
|
NM_000540.3(RYR1):c.1211A>G (p.His404Arg)
|
rs561546643
|
|
|
NM_000540.3(RYR1):c.12954G>A (p.Arg4318=)
|
rs886054405
|
|
|
NM_000540.3(RYR1):c.12990C>G (p.Thr4330=)
|
rs184450380
|
|
|
NM_000540.3(RYR1):c.13038T>C (p.Ala4346=)
|
rs758223017
|
|
|
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)
|
rs794727985
|
|
|
NM_000540.3(RYR1):c.13113C>G (p.Ala4371=)
|
rs1599635569
|
|
|
NM_000540.3(RYR1):c.13551C>T (p.Pro4517=)
|
rs886054410
|
|
|
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu)
|
rs145167688
|
|
|
NM_000540.3(RYR1):c.14304-6C>A
|
rs794728693
|
|
|
NM_000540.3(RYR1):c.14365-6C>T
|
rs1064797242
|
|
|
NM_000540.3(RYR1):c.1441-12T>C
|
rs760987340
|
|
|
NM_000540.3(RYR1):c.14559C>T (p.Thr4853=)
|
rs570469685
|
|
|
NM_000540.3(RYR1):c.166-3dup
|
rs745926203
|
|
|
NM_000540.3(RYR1):c.2168-3dup
|
rs1555770306
|
|
|
NM_000540.3(RYR1):c.3216C>T (p.Arg1072=)
|
rs1968178599
|
|
|
NM_000540.3(RYR1):c.3420C>G (p.Arg1140=)
|
rs201599911
|
|
|
NM_000540.3(RYR1):c.3420C>T (p.Arg1140=)
|
rs201599911
|
|
|
NM_000540.3(RYR1):c.3527C>T (p.Thr1176Ile)
|
rs549201486
|
|
|
NM_000540.3(RYR1):c.4266C>T (p.Asp1422=)
|
rs886054385
|
|
|
NM_000540.3(RYR1):c.4269C>G (p.Pro1423=)
|
rs2229141
|
|
|
NM_000540.3(RYR1):c.4269C>T (p.Pro1423=)
|
rs2229141
|
|
|
NM_000540.3(RYR1):c.447G>A (p.Met149Ile)
|
rs772652844
|
|
|
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=)
|
rs369466056
|
|
|
NM_000540.3(RYR1):c.5025G>C (p.Leu1675=)
|
rs886054388
|
|
|
NM_000540.3(RYR1):c.5322G>A (p.Pro1774=)
|
rs572516017
|
|
|
NM_000540.3(RYR1):c.537+12C>A
|
rs779869638
|
|
|
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del)
|
rs371047178
|
|
|
NM_000540.3(RYR1):c.5736G>A (p.Glu1912=)
|
rs753416949
|
|
|
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr)
|
rs199947661
|
|
|
NM_000540.3(RYR1):c.6027A>G (p.Leu2009=)
|
rs2145564113
|
|
|
NM_000540.3(RYR1):c.6150G>A (p.Glu2050=)
|
rs727504131
|
|
|
NM_000540.3(RYR1):c.6664-5C>G
|
rs867630021
|
|
|
NM_000540.3(RYR1):c.6904C>T (p.Leu2302=)
|
rs886042146
|
|
|
NM_000540.3(RYR1):c.7028-11C>G
|
rs369342449
|
|
|
NM_000540.3(RYR1):c.7028-13T>C
|
rs773283518
|
|
|
NM_000540.3(RYR1):c.7053T>C (p.Asn2351=)
|
rs748167551
|
|
|
NM_000540.3(RYR1):c.7140C>T (p.Ile2380=)
|
rs573431795
|
|
|
NM_000540.3(RYR1):c.7743T>C (p.Ser2581=)
|
rs1477392994
|
|
|
NM_000540.3(RYR1):c.7836-6C>T
|
rs780269941
|
|
|
NM_000540.3(RYR1):c.7878G>C (p.Leu2626=)
|
rs148907377
|
|
|
NM_000540.3(RYR1):c.7927-7C>T
|
rs886054395
|
|
|
NM_000540.3(RYR1):c.821G>A (p.Arg274His)
|
rs368711923
|
|
|
NM_000540.3(RYR1):c.8430G>A (p.Lys2810=)
|
|
|
|
NM_000540.3(RYR1):c.8501C>G (p.Thr2834Arg)
|
rs555470100
|
|
|
NM_000540.3(RYR1):c.8820C>A (p.Gly2940=)
|
|
|
|
NM_000540.3(RYR1):c.9001-15C>A
|
rs372702492
|
|
|
NM_000540.3(RYR1):c.9123-14T>G
|
rs2145659049
|
|
|
NM_000540.3(RYR1):c.9336G>A (p.Leu3112=)
|
|
|
|
NM_000540.3(RYR1):c.9885C>G (p.Ala3295=)
|
rs776468955
|
|
|
NM_000545.8(HNF1A):c.-124G>C
|
rs563304627
|
|
|
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)
|
rs193922580
|
|
|
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala)
|
rs587778393
|
|
|
NM_000546.6(TP53):c.1093C>T (p.His365Tyr)
|
rs267605075
|
|
|
NM_000546.6(TP53):c.31G>C (p.Glu11Gln)
|
rs201382018
|
|
|
NM_000546.6(TP53):c.66A>G (p.Leu22=)
|
rs748527030
|
|
|
NM_000546.6(TP53):c.673-4C>G
|
rs1555525586
|
|
|
NM_000546.6(TP53):c.787A>G (p.Asn263Asp)
|
rs72661119
|
|
|
NM_000546.6(TP53):c.892G>A (p.Glu298Lys)
|
rs201744589
|
|
|
NM_000546.6(TP53):c.920-14_920-3del
|
rs768598540
|
|
|
NM_000546.6(TP53):c.97-3C>T
|
rs786203749
|
|
|
NM_000546.6(TP53):c.993+8G>A
|
rs1060504163
|
|
|
NM_000548.5(TSC2):c.1119+3G>C
|
rs79668097
|
|
|
NM_000548.5(TSC2):c.1137G>A (p.Glu379=)
|
rs1057519260
|
|
|
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu)
|
rs796053485
|
|
|
NM_000548.5(TSC2):c.1946+5G>T
|
rs766646261
|
|
|
NM_000548.5(TSC2):c.2356-5T>G
|
rs796053488
|
|
|
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)
|
rs397515077
|
|
|
NM_000548.5(TSC2):c.2788_2790delinsGAC (p.Lys930Asp)
|
rs1060500935
|
|
|
NM_000548.5(TSC2):c.2838-3T>C
|
rs553942147
|
|
|
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
|
NM_000548.5(TSC2):c.4416C>T (p.Gly1472=)
|
rs2090534289
|
|
|
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met)
|
rs397515167
|
|
|
NM_000548.5(TSC2):c.4663-11_4663-5del
|
rs760527750
|
|
|
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr)
|
rs777539610
|
|
|
NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys)
|
rs886039446
|
|
|
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys)
|
rs755728007
|
|
|
NM_000548.5(TSC2):c.5069-10G>A
|
|
|
|
NM_000548.5(TSC2):c.5161-5C>G
|
rs775534948
|
|
|
NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser)
|
rs137854219
|
|
|
NM_000548.5(TSC2):c.849-13G>A
|
rs886051787
|
|
|
NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys)
|
rs878854122
|
|
|
NM_000553.6(WRN):c.1181C>T (p.Ser394Leu)
|
rs200487813
|
|
|
NM_000553.6(WRN):c.210-8C>T
|
rs1812609160
|
|
|
NM_000553.6(WRN):c.2166T>C (p.Asn722=)
|
rs1334120731
|
|
|
NM_000553.6(WRN):c.2338G>A (p.Val780Ile)
|
rs574787451
|
|
|
NM_000553.6(WRN):c.3078A>G (p.Gly1026=)
|
rs886062892
|
|
|
NM_000553.6(WRN):c.3582G>A (p.Thr1194=)
|
rs762685242
|
|
|
NM_000553.6(WRN):c.3819+14T>C
|
rs886062894
|
|
|
NM_000553.6(WRN):c.3972C>T (p.Pro1324=)
|
rs370253199
|
|
|
NM_000557.5(GDF5):c.1299C>T (p.Cys433=)
|
rs886042958
|
|
|
NM_000628.5(IL10RB):c.332-11C>T
|
rs531765635
|
|
|
NM_000637.5(GSR):c.943G>A (p.Gly315Ser)
|
|
|
|
NM_000642.3(AGL):c.1263A>G (p.Arg421=)
|
rs1175506369
|
|
|
NM_000642.3(AGL):c.1326A>G (p.Glu442=)
|
rs886044919
|
|
|
NM_000642.3(AGL):c.1758T>C (p.Ser586=)
|
|
|
|
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys)
|
rs781127120
|
|
|
NM_000642.3(AGL):c.344T>C (p.Val115Ala)
|
rs567992352
|
|
|
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr)
|
rs375755924
|
|
|
NM_000642.3(AGL):c.443G>A (p.Arg148Lys)
|
rs542885983
|
|
|
NM_000642.3(AGL):c.887T>G (p.Leu296Arg)
|
rs748142986
|
|
|
NM_000660.7(TGFB1):c.86G>A (p.Gly29Glu)
|
rs199758510
|
|
|
NM_000701.8(ATP1A1):c.12+3G>T
|
|
|
|
NM_000709.4(BCKDHA):c.441C>G (p.Ala147=)
|
rs2039284438
|
|
|
NM_000709.4(BCKDHA):c.939C>T (p.Ala313=)
|
rs2039381646
|
|
|
NM_000709.4(BCKDHA):c.978C>A (p.Ile326=)
|
rs398123514
|
|
|
NM_000709.4(BCKDHA):c.995+8C>T
|
rs886054462
|
|
|
NM_000718.4(CACNA1B):c.5240A>G (p.Asn1747Ser)
|
|
|
|
NM_000718.4(CACNA1B):c.5945G>A (p.Arg1982Gln)
|
|
|
|
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)
|
rs575583988
|
|
|
NM_000732.6(CD3D):c.450+7G>T
|
rs201810356
|
|
|
NM_000733.4(CD3E):c.211G>C (p.Asp71His)
|
rs148647954
|
|
|
NM_000733.4(CD3E):c.353-5C>A
|
rs374456909
|
|
|
NM_000751.3(CHRND):c.1455A>G (p.Thr485=)
|
rs756537437
|
|
|
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp)
|
rs35873579
|
|
|
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=)
|
rs1306558952
|
|
|
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln)
|
rs148417330
|
|
|
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)
|
rs148417330
|
|
|
NM_000807.4(GABRA2):c.1214C>T (p.Ala405Val)
|
|
|
|
NM_000807.4(GABRA2):c.1219_1220delinsAA (p.Ala407Lys)
|
rs1553895447
|
|
|
NM_000843.4(GRM6):c.58_72del (p.Trp20_Ala24del)
|
rs1189206125
|
|
|
NM_000875.5(IGF1R):c.885G>T (p.Gly295=)
|
rs56303650
|
|
|
NM_000883.4(IMPDH1):c.1362C>A (p.Thr454=)
|
rs62481098
|
|
|
NM_000925.4(PDHB):c.249T>C (p.Ile83=)
|
rs886058779
|
|
|
NM_000925.4(PDHB):c.96+12G>A
|
rs773433623
|
|
|
NM_001001331.4(ATP2B2):c.1427A>G (p.Lys476Arg)
|
|
|
|
NM_001004334.4(GPR179):c.582C>A (p.Thr194=)
|
rs756762102
|
|
|
NM_001005242.3(PKP2):c.1644A>T (p.Gly548=)
|
rs1555143127
|
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
|
NM_001005242.3(PKP2):c.2445+11G>T
|
rs1356336963
|
|
|
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)
|
rs745748213
|
|
|
NM_001005361.3(DNM2):c.625C>T (p.Leu209=)
|
rs927749691
|
|
|
NM_001005373.4(LRSAM1):c.1035C>T (p.Asp345=)
|
rs766701971
|
|
|
NM_001005373.4(LRSAM1):c.2115C>T (p.Thr705=)
|
rs1410005477
|
|
|
NM_001008216.2(GALE):c.330C>T (p.Thr110=)
|
rs377557637
|
|
|
NM_001008216.2(GALE):c.450G>A (p.Thr150=)
|
rs566884215
|
|
|
NM_001008216.2(GALE):c.529-11A>G
|
|
|
|
NM_001008216.2(GALE):c.989-13C>T
|
rs199622680
|
|
|
NM_001008537.3(NEXMIF):c.3347G>C (p.Cys1116Ser)
|
rs2080102020
|
|
|
NM_001011.4(RPS7):c.79C>A (p.Leu27Ile)
|
|
|
|
NM_001012339.3(DNAJC21):c.743+10G>A
|
rs371751945
|
|
|
NM_001012759.3(CTU2):c.1509_1512dup (p.Ile505fs)
|
|
|
|
NM_001012759.3(CTU2):c.424T>C (p.Phe142Leu)
|
|
|
|
NM_001013693.3(LDLRAD2):c.*2404C>T
|
|
|
|
NM_001017995.3(SH3PXD2B):c.1063-9_1063-8delinsCT
|
rs797044638
|
|
|
NM_001017995.3(SH3PXD2B):c.1422G>A (p.Pro474=)
|
rs199727236
|
|
|
NM_001017995.3(SH3PXD2B):c.45G>A (p.Val15=)
|
|
|
|
NM_001025295.3(IFITM5):c.120G>A (p.Ser40=)
|
rs79625057
|
|
|
NM_001025356.3(ANO6):c.2572G>A (p.Asp858Asn)
|
|
|
|
NM_001025603.2(RFX5):c.859-15C>T
|
rs377295214
|
|
|
NM_001025616.3(ARHGAP24):c.1442C>T (p.Thr481Met)
|
rs147870358
|
|
|
NM_001029883.3(PCARE):c.2346A>G (p.Gln782=)
|
rs181545106
|
|
|
NM_001029883.3(PCARE):c.2950C>A (p.Arg984=)
|
rs774215025
|
|
|
NM_001029883.3(PCARE):c.3813C>T (p.His1271=)
|
rs369662857
|
|
|
NM_001029896.2(WDR45):c.5C>T (p.Thr2Ile)
|
rs2147817901
|
|
|
NM_001031679.3(MSRB3):c.-118del
|
rs574256598
|
|
|
NM_001031710.3(KLHL7):c.443-10_443-9del
|
rs774048435
|
|
|
NM_001033046.4(CYBC1):c.298+8G>A
|
|
|
|
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs)
|
rs760288938
|
|
|
NM_001034853.2(RPGR):c.1175C>T (p.Pro392Leu)
|
|
|
|
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del)
|
rs746535151
|
|
|
NM_001035.3(RYR2):c.11427G>A (p.Glu3809=)
|
rs553350678
|
|
|
NM_001035.3(RYR2):c.13476+8_13476+11dup
|
rs864309562
|
|
|
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala)
|
rs778783933
|
|
|
NM_001035.3(RYR2):c.7035A>T (p.Ala2345=)
|
rs1681182291
|
|
|
NM_001035.3(RYR2):c.7233C>A (p.Ala2411=)
|
rs367994477
|
|
|
NM_001035.3(RYR2):c.7599T>C (p.Pro2533=)
|
rs886046274
|
|
|
NM_001035.3(RYR2):c.9129-7T>C
|
rs1466669135
|
|
|
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=)
|
rs2797436
|
|
|
NM_001037333.3(CYFIP2):c.1357-6G>A
|
rs1760439649
|
|
|
NM_001037333.3(CYFIP2):c.229C>T (p.His77Tyr)
|
rs1201497625
|
|
|
NM_001037333.3(CYFIP2):c.2584C>G (p.Arg862Gly)
|
|
|
|
NM_001037333.3(CYFIP2):c.2909-16C>T
|
|
|
|
NM_001038.6(SCNN1A):c.2004dup (p.Pro669fs)
|
rs761663786
|
|
|
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr)
|
rs144653364
|
|
|
NM_001039.4(SCNN1G):c.401C>T (p.Ser134Phe)
|
|
|
|
NM_001039591.3(USP9X):c.3140T>C (p.Met1047Thr)
|
|
|
|
NM_001039591.3(USP9X):c.90G>C (p.Gln30His)
|
|
|
|
NM_001040108.2(MLH3):c.4239A>G (p.Lys1413=)
|
rs975447813
|
|
|
NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala)
|
rs200884440
|
|
|
NM_001040436.3(YARS2):c.780-11T>C
|
|
|
|
NM_001040716.2(PC):c.1023-14C>A
|
rs111858832
|
|
|
NM_001040716.2(PC):c.2019C>A (p.Val673=)
|
rs1591119887
|
|
|
NM_001040716.2(PC):c.2285G>A (p.Arg762His)
|
|
|
|
NM_001040716.2(PC):c.2719-5_2719-3del
|
rs566558597
|
|
|
NM_001040716.2(PC):c.3399G>A (p.Lys1133=)
|
rs776825183
|
|
|
NM_001040716.2(PC):c.3531C>T (p.Ile1177=)
|
rs144982348
|
|
|
NM_001041.4(SI):c.65T>C (p.Ile22Thr)
|
|
|
|
NM_001042492.3(NF1):c.1185+7G>C
|
rs1322791959
|
|
|
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT
|
rs587782851
|
|
|
NM_001042492.3(NF1):c.1528-3C>T
|
rs1060500294
|
|
|
NM_001042492.3(NF1):c.174C>T (p.Leu58=)
|
rs2065657421
|
|
|
NM_001042492.3(NF1):c.1846-8T>A
|
rs886052799
|
|
|
NM_001042492.3(NF1):c.1866T>C (p.Cys622=)
|
rs753245823
|
|
|
NM_001042492.3(NF1):c.1868A>G (p.His623Arg)
|
rs1555613555
|
|
|
NM_001042492.3(NF1):c.2002-5C>G
|
rs1165625614
|
|
|
NM_001042492.3(NF1):c.2032C>T (p.Pro678Ser)
|
rs758691069
|
|
|
NM_001042492.3(NF1):c.2250A>G (p.Thr750=)
|
rs876659061
|
|
|
NM_001042492.3(NF1):c.2409+15T>C
|
rs2067039946
|
|
|
NM_001042492.3(NF1):c.2761G>A (p.Val921Met)
|
rs567023433
|
|
|
NM_001042492.3(NF1):c.3171A>G (p.Ala1057=)
|
rs2067102269
|
|
|
NM_001042492.3(NF1):c.3198-5T>G
|
rs587782639
|
|
|
NM_001042492.3(NF1):c.3213A>G (p.Ala1071=)
|
rs786202077
|
|
|
NM_001042492.3(NF1):c.4011G>C (p.Arg1337=)
|
rs2067448681
|
|
|
NM_001042492.3(NF1):c.4530A>G (p.Leu1510=)
|
rs876660089
|
|
|
NM_001042492.3(NF1):c.4578-8G>C
|
rs375758486
|
|
|
NM_001042492.3(NF1):c.4834A>C (p.Arg1612=)
|
rs755137259
|
|
|
NM_001042492.3(NF1):c.5619C>G (p.Ala1873=)
|
rs786203335
|
|
|
NM_001042492.3(NF1):c.615G>A (p.Lys205=)
|
rs1135402794
|
|
|
NM_001042492.3(NF1):c.6555G>A (p.Arg2185=)
|
rs786203189
|
|
|
NM_001042492.3(NF1):c.6571T>C (p.Ser2191Pro)
|
rs754630324
|
|
|
NM_001042492.3(NF1):c.6630G>A (p.Leu2210=)
|
rs886052801
|
|
|
NM_001042492.3(NF1):c.6704+4T>C
|
rs1555534930
|
|
|
NM_001042492.3(NF1):c.6717A>G (p.Gln2239=)
|
rs2069724967
|
|
|
NM_001042492.3(NF1):c.6820-6T>C
|
rs1597845896
|
|
|
NM_001042492.3(NF1):c.6820-8C>T
|
rs1060503909
|
|
|
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=)
|
rs1135402896
|
|
|
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=)
|
rs786201310
|
|
|
NM_001042492.3(NF1):c.7509C>T (p.Tyr2503=)
|
rs1555536359
|
|
|
NM_001042492.3(NF1):c.7807G>C (p.Val2603Leu)
|
rs766135206
|
|
|
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met)
|
rs144178015
|
|
|
NM_001042681.2(RERE):c.1745C>T (p.Ser582Leu)
|
|
|
|
NM_001042681.2(RERE):c.3570GGAGCG[2] (p.1192RE[4])
|
rs201570536
|
|
|
NM_001042681.2(RERE):c.3588_3593del (p.1192RE[4])
|
|
|
|
NM_001042750.2(STAG2):c.1822-16TAT[2]
|
rs1356736514
|
|
|
NM_001048166.1(STIL):c.2070A>T (p.Ser690=)
|
rs367887740
|
|
|
NM_001048174.2(MUTYH):c.1053G>A (p.Gln351=)
|
rs886046366
|
|
|
NM_001048174.2(MUTYH):c.116-55C>T
|
rs1316542179
|
|
|
NM_001048174.2(MUTYH):c.1393-11T>G
|
rs868701952
|
|
|
NM_001048174.2(MUTYH):c.305-4C>G
|
rs767717597
|
|
|
NM_001048174.2(MUTYH):c.493-5A>T
|
rs758377868
|
|
|
NM_001061.7(TBXAS1):c.1365-10G>A
|
rs765137338
|
|
|
NM_001065.4(TNFRSF1A):c.1083C>T (p.Ala361=)
|
rs746923911
|
|
|
NM_001065.4(TNFRSF1A):c.472+7G>T
|
rs200194581
|
|
|
NM_001069.3(TUBB2A):c.344C>T (p.Ser115Leu)
|
|
|
|
NM_001077525.3(MTMR14):c.1089C>T (p.Ile363=)
|
rs769182078
|
|
|
NM_001077525.3(MTMR14):c.1295-7_1295-5del
|
rs771401637
|
|
|
NM_001077653.2(TBX20):c.1310G>T (p.Arg437Leu)
|
rs375484585
|
|
|
NM_001077653.2(TBX20):c.549C>G (p.Leu183=)
|
rs1463237905
|
|
|
NM_001079.4(ZAP70):c.790+12_790+15dup
|
rs761349565
|
|
|
NM_001079866.2(BCS1L):c.349C>A (p.Arg117=)
|
rs777735526
|
|
|
NM_001079872.2(CUL4B):c.920+9G>A
|
|
|
|
NM_001080414.4(CCDC88C):c.2066C>G (p.Ser689Cys)
|
|
|
|
NM_001080414.4(CCDC88C):c.2365C>T (p.Leu789=)
|
|
|
|
NM_001080414.4(CCDC88C):c.5161G>A (p.Gly1721Arg)
|
|
|
|
NM_001080414.4(CCDC88C):c.5578C>T (p.Arg1860Trp)
|
|
|
|
NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro)
|
rs1555413299
|
|
|
NM_001080414.4(CCDC88C):c.5981G>T (p.Arg1994Leu)
|
|
|
|
NM_001080449.3(DNA2):c.1155A>G (p.Gln385=)
|
rs530452383
|
|
|
NM_001080467.3(MYO5B):c.2004-11_2004-10del
|
rs771242570
|
|
|
NM_001080477.4(TENM3):c.3331A>G (p.Met1111Val)
|
|
|
|
NM_001080517.3(SETD5):c.2324G>A (p.Gly775Asp)
|
rs1453766111
|
|
|
NM_001080517.3(SETD5):c.2406G>T (p.Glu802Asp)
|
|
|
|
NM_001080517.3(SETD5):c.327C>T (p.Cys109=)
|
|
|
|
NM_001080517.3(SETD5):c.330-6C>T
|
rs1448139711
|
|
|
NM_001080517.3(SETD5):c.3862G>A (p.Gly1288Ser)
|
rs755607090
|
|
|
NM_001082971.2(DDC):c.1041+12A>T
|
rs2042651349
|
|
|
NM_001082971.2(DDC):c.316-5G>C
|
rs2044474558
|
|
|
NM_001082971.2(DDC):c.436-6A>G
|
rs770694855
|
|
|
NM_001083116.3(PRF1):c.132C>A (p.Ala44=)
|
rs181323749
|
|
|
NM_001083116.3(PRF1):c.519G>A (p.Thr173=)
|
rs112883709
|
|
|
NM_001083614.2(EARS2):c.1292G>C (p.Gly431Ala)
|
rs112604556
|
|
|
NM_001083614.2(EARS2):c.209G>T (p.Ser70Ile)
|
rs201941745
|
|
|
NM_001083961.2(WDR62):c.156C>G (p.Ser52=)
|
rs398123559
|
|
|
NM_001083961.2(WDR62):c.3162G>A (p.Pro1054=)
|
rs200232641
|
|
|
NM_001083961.2(WDR62):c.3641C>T (p.Thr1214Ile)
|
rs752898108
|
|
|
NM_001083962.2(TCF4):c.939G>A (p.Gly313=)
|
rs1470608351
|
|
|
NM_001083962.2(TCF4):c.990+12T>A
|
rs144346949
|
|
|
NM_001089.3(ABCA3):c.115C>G (p.Leu39Val)
|
|
|
|
NM_001089.3(ABCA3):c.1611+6G>A
|
|
|
|
NM_001099274.3(TINF2):c.1222-11del
|
rs746206409
|
|
|
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del)
|
rs750710267
|
|
|
NM_001099922.3(ALG13):c.890G>A (p.Ser297Asn)
|
rs1939938682
|
|
|
NM_001100.4(ACTA1):c.108C>T (p.Ile36=)
|
rs143948837
|
|
|
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=)
|
rs1659932688
|
|
|
NM_001100913.3(PACS2):c.2692G>C (p.Gly898Arg)
|
rs368316410
|
|
|
NM_001100913.3(PACS2):c.527G>A (p.Ser176Asn)
|
rs782204977
|
|
|
NM_001100913.3(PACS2):c.725C>G (p.Thr242Arg)
|
rs780880602
|
|
|
NM_001101362.3(KBTBD13):c.162C>T (p.Ser54=)
|
rs1162054356
|
|
|
NM_001101362.3(KBTBD13):c.309G>C (p.Ser103=)
|
rs760134475
|
|
|
NM_001101362.3(KBTBD13):c.634_638del (p.Tyr212fs)
|
rs748327666
|
|
|
NM_001110556.2(FLNA):c.1246G>C (p.Val416Leu)
|
|
|
|
NM_001110556.2(FLNA):c.3637G>A (p.Gly1213Ser)
|
|
|
|
NM_001110556.2(FLNA):c.3965C>T (p.Thr1322Met)
|
|
|
|
NM_001111125.3(IQSEC2):c.2670C>T (p.Leu890=)
|
rs2074317922
|
|
|
NM_001113378.2(FANCI):c.3059-11C>T
|
rs2054667046
|
|
|
NM_001113378.2(FANCI):c.669+17_669+18del
|
rs751881445
|
|
|
NM_001113491.2(SEPTIN9):c.353_354delinsCC (p.Gln118Pro)
|
rs1555659856
|
|
|
NM_001113491.2(SEPTIN9):c.449C>T (p.Thr150Met)
|
|
|
|
NM_001113491.2(SEPTIN9):c.791C>T (p.Ala264Val)
|
rs745391514
|
|
|
NM_001113525.2(ZNF276):c.*1314C>T
|
rs2062071481
|
|
|
NM_001113525.2(ZNF276):c.*732G>A
|
rs775180524
|
|
|
NM_001114134.2(EPB42):c.2044G>A (p.Val682Ile)
|
|
|
|
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)
|
rs751787590
|
|
|
NM_001114753.3(ENG):c.1429-8C>G
|
rs376169815
|
|
|
NM_001114753.3(ENG):c.220-6C>A
|
rs756342212
|
|
|
NM_001122630.2(CDKN1C):c.455_472del (p.Ala152_Pro157del)
|
rs1554937999
|
|
|
NM_001122630.2(CDKN1C):c.487GCGGTC[3] (p.163AV[3])
|
rs889984547
|
|
|
NM_001122630.2(CDKN1C):c.525_548del (p.168_169AP[4])
|
rs878853630
|
|
|
NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile)
|
rs77132068
|
|
|
NM_001122681.2(SH3BP2):c.750T>A (p.Ala250=)
|
rs231399
|
|
|
NM_001122752.2(SERPINI1):c.1067-6C>T
|
rs759360650
|
|
|
NM_001126108.2(SLC12A3):c.2720+8C>T
|
rs957373573
|
|
|
NM_001127178.3(PIGG):c.1428T>C (p.Phe476=)
|
rs766083746
|
|
|
NM_001127178.3(PIGG):c.846C>A (p.Thr282=)
|
rs144638389
|
|
|
NM_001127222.2(CACNA1A):c.3090-5C>T
|
rs976595665
|
|
|
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)
|
rs200333359
|
|
|
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys)
|
rs554393704
|
|
|
NM_001127453.2(GSDME):c.991T>C (p.Cys331Arg)
|
rs373787249
|
|
|
NM_001127644.2(GABRA1):c.39C>G (p.Ala13=)
|
rs1581175017
|
|
|
NM_001127644.2(GABRA1):c.439C>T (p.Arg147Trp)
|
rs139163545
|
|
|
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys)
|
rs3729751
|
|
|
NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp)
|
rs149660944
|
|
|
NM_001128159.3(VPS53):c.2458C>G (p.Arg820Gly)
|
rs561656938
|
|
|
NM_001128228.3(TPRN):c.1712C>G (p.Ser571Cys)
|
rs140967677
|
|
|
NM_001128425.2(MUTYH):c.192C>T (p.Ala64=)
|
rs760321509
|
|
|
NM_001128431.4(SLC39A14):c.24G>T (p.Pro8=)
|
rs112568651
|
|
|
NM_001128840.3(CACNA1D):c.2414T>C (p.Ile805Thr)
|
rs147933585
|
|
|
NM_001128840.3(CACNA1D):c.2751+14G>T
|
rs748663117
|
|
|
NM_001128840.3(CACNA1D):c.2919-6C>T
|
|
|
|
NM_001128840.3(CACNA1D):c.3376G>T (p.Val1126Leu)
|
|
|
|
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser)
|
rs147146258
|
|
|
NM_001128840.3(CACNA1D):c.3789G>T (p.Gly1263=)
|
|
|
|
NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=)
|
rs776968811
|
|
|
NM_001128840.3(CACNA1D):c.5936G>A (p.Arg1979Gln)
|
rs143354476
|
|
|
NM_001128840.3(CACNA1D):c.6341G>T (p.Arg2114Leu)
|
rs149416995
|
|
|
NM_001130823.3(DNMT1):c.1171-7C>T
|
rs1168540279
|
|
|
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=)
|
rs754820811
|
|
|
NM_001130987.2(DYSF):c.1374G>T (p.Gly458=)
|
rs771092045
|
|
|
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)
|
rs546679270
|
|
|
NM_001130987.2(DYSF):c.1985-15G>A
|
rs146407633
|
|
|
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val)
|
rs770228554
|
|
|
NM_001130987.2(DYSF):c.3072T>A (p.Ala1024=)
|
rs2092344930
|
|
|
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met)
|
rs148858485
|
|
|
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)
|
rs148858485
|
|
|
NM_001130987.2(DYSF):c.378G>T (p.Pro126=)
|
rs377056951
|
|
|
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)
|
rs139654844
|
|
|
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=)
|
rs751456837
|
|
|
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met)
|
rs144383140
|
|
|
NM_001130987.2(DYSF):c.5784+10C>T
|
rs758268866
|
|
|
NM_001130987.2(DYSF):c.603G>A (p.Glu201=)
|
rs765064954
|
|
|
NM_001130987.2(DYSF):c.605C>T (p.Ala202Val)
|
rs34999029
|
|
|
NM_001134363.3(RBM20):c.1356A>T (p.Ile452=)
|
rs745544964
|
|
|
NM_001134363.3(RBM20):c.1766G>A (p.Arg589Gln)
|
rs368716639
|
|
|
NM_001134363.3(RBM20):c.1880+4_1880+6dup
|
rs397516597
|
|
|
NM_001134363.3(RBM20):c.201G>A (p.Lys67=)
|
rs752370319
|
|
|
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu)
|
rs397516601
|
|
|
NM_001134363.3(RBM20):c.2704C>A (p.Pro902Thr)
|
|
|
|
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met)
|
rs372370653
|
|
|
NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala)
|
rs969716149
|
|
|
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)
|
rs753102653
|
|
|
NM_001134363.3(RBM20):c.364C>A (p.Gln122Lys)
|
rs727504583
|
|
|
NM_001134363.3(RBM20):c.785C>G (p.Thr262Ser)
|
rs758718732
|
|
|
NM_001134407.3(GRIN2A):c.1074C>G (p.His358Gln)
|
rs763315364
|
|
|
NM_001134407.3(GRIN2A):c.1777+6G>T
|
rs76549675
|
|
|
NM_001134407.3(GRIN2A):c.2049G>C (p.Gly683=)
|
rs1057523027
|
|
|
NM_001134407.3(GRIN2A):c.2494C>T (p.Leu832Phe)
|
rs145495027
|
|
|
NM_001134407.3(GRIN2A):c.288C>G (p.His96Gln)
|
rs74853460
|
|
|
NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr)
|
rs1555482611
|
|
|
NM_001134407.3(GRIN2A):c.3544G>T (p.Asp1182Tyr)
|
rs375160358
|
|
|
NM_001134407.3(GRIN2A):c.3668C>G (p.Thr1223Ser)
|
rs770966136
|
|
|
NM_001134407.3(GRIN2A):c.3854G>T (p.Arg1285Met)
|
rs367543132
|
|
|
NM_001134407.3(GRIN2A):c.4006C>T (p.Leu1336Phe)
|
|
|
|
NM_001134407.3(GRIN2A):c.67_81del (p.Pro23_Ala27del)
|
rs775540481
|
|
|
NM_001136139.4(TCF3):c.1700G>A (p.Arg567Gln)
|
rs1555712474
|
|
|
NM_001136193.2(FASTKD2):c.1207C>G (p.Leu403Val)
|
|
|
|
NM_001136193.2(FASTKD2):c.1587G>C (p.Leu529=)
|
|
|
|
NM_001139.3(ALOX12B):c.1566G>T (p.Pro522=)
|
rs936466427
|
|
|
NM_001142800.2(EYS):c.-350G>A
|
rs886061687
|
|
|
NM_001142800.2(EYS):c.1698T>C (p.Asn566=)
|
rs1156347961
|
|
|
NM_001142800.2(EYS):c.33G>C (p.Leu11=)
|
rs777361054
|
|
|
NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe)
|
rs542339299
|
|
|
NM_001142800.2(EYS):c.7260C>T (p.Gly2420=)
|
rs1770908773
|
|
|
NM_001142800.2(EYS):c.7579-11dup
|
rs1044534941
|
|
|
NM_001142800.2(EYS):c.9156T>C (p.Asn3052=)
|
rs1768354975
|
|
|
NM_001142864.4(PIEZO1):c.1187G>A (p.Arg396Gln)
|
|
|
|
NM_001142864.4(PIEZO1):c.2181-14G>A
|
|
|
|
NM_001142864.4(PIEZO1):c.2545C>T (p.Arg849Cys)
|
|
|
|
NM_001142864.4(PIEZO1):c.2982C>G (p.Phe994Leu)
|
rs374262841
|
|
|
NM_001142864.4(PIEZO1):c.463C>T (p.Leu155=)
|
|
|
|
NM_001142864.4(PIEZO1):c.5827C>T (p.Arg1943Trp)
|
|
|
|
NM_001142864.4(PIEZO1):c.7234C>G (p.Arg2412Gly)
|
rs577922766
|
|
|
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup)
|
rs755226463
|
|
|
NM_001143992.2(WRAP53):c.729C>A (p.Ser243=)
|
rs570343418
|
|
|
NM_001144967.3(NEDD4L):c.1402C>T (p.Arg468Trp)
|
rs1199827684
|
|
|
NM_001145715.3(KPNA7):c.865G>C (p.Val289Leu)
|
rs191355534
|
|
|
NM_001145809.2(MYH14):c.4539+14G>A
|
rs779431768
|
|
|
NM_001145809.2(MYH14):c.594A>T (p.Gly198=)
|
rs1195002362
|
|
|
NM_001159773.2(CANT1):c.1026C>T (p.His342=)
|
rs755288092
|
|
|
NM_001160036.2(RHOBTB2):c.20G>A (p.Gly7Asp)
|
rs186695833
|
|
|
NM_001160372.4(TRAPPC9):c.2279-11del
|
rs758850777
|
|
|
NM_001160372.4(TRAPPC9):c.2475G>A (p.Arg825=)
|
rs756688439
|
|
|
NM_001160372.4(TRAPPC9):c.269A>G (p.Lys90Arg)
|
rs550423753
|
|
|
NM_001161352.2(KCNMA1):c.3697G>A (p.Glu1233Lys)
|
rs779739159
|
|
|
NM_001164277.2(SLC37A4):c.1125-14T>C
|
rs1555190405
|
|
|
NM_001164277.2(SLC37A4):c.1125-6T>G
|
rs782323567
|
|
|
NM_001164277.2(SLC37A4):c.149-11G>A
|
rs1555191644
|
|
|
NM_001164277.2(SLC37A4):c.611C>T (p.Ser204Phe)
|
rs567419206
|
|
|
NM_001164277.2(SLC37A4):c.872-10G>A
|
rs1555190776
|
|
|
NM_001164277.2(SLC37A4):c.872-15_872-9dup
|
rs782321213
|
|
|
NM_001164277.2(SLC37A4):c.891G>T (p.Gly297=)
|
rs1388277495
|
|
|
NM_001164277.2(SLC37A4):c.986-14T>G
|
rs863224211
|
|
|
NM_001164508.2(NEB):c.10462C>T (p.Arg3488Cys)
|
rs765175171
|
|
|
NM_001164508.2(NEB):c.1074A>G (p.Lys358=)
|
rs2099709094
|
|
|
NM_001164508.2(NEB):c.11563G>A (p.Val3855Ile)
|
rs542092706
|
|
|
NM_001164508.2(NEB):c.11602-13A>T
|
rs886054941
|
|
|
NM_001164508.2(NEB):c.11755G>T (p.Asp3919Tyr)
|
rs201483656
|
|
|
NM_001164508.2(NEB):c.1227C>G (p.Leu409=)
|
rs371658494
|
|
|
NM_001164508.2(NEB):c.12369C>T (p.Ile4123=)
|
rs1277282343
|
|
|
NM_001164508.2(NEB):c.12535-10C>T
|
rs2097760296
|
|
|
NM_001164508.2(NEB):c.12615C>T (p.His4205=)
|
rs1579048021
|
|
|
NM_001164508.2(NEB):c.12723G>A (p.Lys4241=)
|
rs772682280
|
|
|
NM_001164508.2(NEB):c.12873G>A (p.Lys4291=)
|
rs1578940609
|
|
|
NM_001164508.2(NEB):c.12999G>A (p.Thr4333=)
|
rs1384738774
|
|
|
NM_001164508.2(NEB):c.13056C>T (p.Ser4352=)
|
rs1468240932
|
|
|
NM_001164508.2(NEB):c.13218C>A (p.Thr4406=)
|
rs1553867144
|
|
|
NM_001164508.2(NEB):c.13236A>G (p.Ala4412=)
|
rs1578890458
|
|
|
NM_001164508.2(NEB):c.13327C>T (p.Leu4443=)
|
rs1578872999
|
|
|
NM_001164508.2(NEB):c.13477-7C>T
|
rs1328191142
|
|
|
NM_001164508.2(NEB):c.13785C>T (p.Ser4595=)
|
rs1578800572
|
|
|
NM_001164508.2(NEB):c.1434A>G (p.Glu478=)
|
rs2149351968
|
|
|
NM_001164508.2(NEB):c.17198G>A (p.Arg5733His)
|
rs371681892
|
|
|
NM_001164508.2(NEB):c.17491G>A (p.Val5831Met)
|
rs772168965
|
|
|
NM_001164508.2(NEB):c.17619C>T (p.Gly5873=)
|
rs767518298
|
|
|
NM_001164508.2(NEB):c.17931T>C (p.Phe5977=)
|
rs886054938
|
|
|
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val)
|
rs574746662
|
|
|
NM_001164508.2(NEB):c.18408T>C (p.Tyr6136=)
|
rs757188494
|
|
|
NM_001164508.2(NEB):c.18579+15T>C
|
rs2096234308
|
|
|
NM_001164508.2(NEB):c.1900T>C (p.Leu634=)
|
rs1576526817
|
|
|
NM_001164508.2(NEB):c.19137C>T (p.Asp6379=)
|
rs778962225
|
|
|
NM_001164508.2(NEB):c.19397G>A (p.Arg6466Gln)
|
rs747425038
|
|
|
NM_001164508.2(NEB):c.19428+8C>A
|
rs773614835
|
|
|
NM_001164508.2(NEB):c.19912C>T (p.Arg6638Trp)
|
rs771483221
|
|
|
NM_001164508.2(NEB):c.20578-6G>A
|
rs376710012
|
|
|
NM_001164508.2(NEB):c.2062C>G (p.Pro688Ala)
|
rs750276279
|
|
|
NM_001164508.2(NEB):c.2062C>T (p.Pro688Ser)
|
rs750276279
|
|
|
NM_001164508.2(NEB):c.21028T>C (p.Leu7010=)
|
rs750374820
|
|
|
NM_001164508.2(NEB):c.21332C>G (p.Ala7111Gly)
|
rs1279646895
|
|
|
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser)
|
rs376503299
|
|
|
NM_001164508.2(NEB):c.21588C>T (p.Pro7196=)
|
rs2090436424
|
|
|
NM_001164508.2(NEB):c.21859C>G (p.Arg7287Gly)
|
rs376072545
|
|
|
NM_001164508.2(NEB):c.22114A>T (p.Thr7372Ser)
|
rs750642580
|
|
|
NM_001164508.2(NEB):c.22132G>A (p.Val7378Ile)
|
rs764524918
|
|
|
NM_001164508.2(NEB):c.22677A>T (p.Thr7559=)
|
rs778662915
|
|
|
NM_001164508.2(NEB):c.23050C>T (p.Arg7684Cys)
|
rs762019205
|
|
|
NM_001164508.2(NEB):c.23315A>G (p.His7772Arg)
|
rs776379234
|
|
|
NM_001164508.2(NEB):c.24486+10G>A
|
rs755064162
|
|
|
NM_001164508.2(NEB):c.24859C>T (p.Arg8287Trp)
|
rs200804762
|
|
|
NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr)
|
rs376984481
|
|
|
NM_001164508.2(NEB):c.2822C>T (p.Ala941Val)
|
rs765478068
|
|
|
NM_001164508.2(NEB):c.2904A>G (p.Glu968=)
|
rs2099429615
|
|
|
NM_001164508.2(NEB):c.2987T>C (p.Ile996Thr)
|
rs753691207
|
|
|
NM_001164508.2(NEB):c.3209C>G (p.Ala1070Gly)
|
rs371710158
|
|
|
NM_001164508.2(NEB):c.3443C>A (p.Ala1148Glu)
|
rs200637566
|
|
|
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu)
|
rs200590080
|
|
|
NM_001164508.2(NEB):c.4507-3del
|
rs767772701
|
|
|
NM_001164508.2(NEB):c.4736C>T (p.Ala1579Val)
|
rs751602407
|
|
|
NM_001164508.2(NEB):c.4945_4947del (p.Tyr1649del)
|
rs770192528
|
|
|
NM_001164508.2(NEB):c.4978C>T (p.Pro1660Ser)
|
rs776231831
|
|
|
NM_001164508.2(NEB):c.508-6G>A
|
rs374227241
|
|
|
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly)
|
rs150961139
|
|
|
NM_001164508.2(NEB):c.5828T>A (p.Leu1943Gln)
|
rs531692437
|
|
|
NM_001164508.2(NEB):c.585C>G (p.Ala195=)
|
rs374538366
|
|
|
NM_001164508.2(NEB):c.585C>T (p.Ala195=)
|
rs374538366
|
|
|
NM_001164508.2(NEB):c.6299G>A (p.Arg2100Gln)
|
rs752836728
|
|
|
NM_001164508.2(NEB):c.6554G>T (p.Gly2185Val)
|
rs373439650
|
|
|
NM_001164508.2(NEB):c.7176T>C (p.Pro2392=)
|
rs1042667385
|
|
|
NM_001164508.2(NEB):c.7644A>G (p.Glu2548=)
|
rs916950454
|
|
|
NM_001164508.2(NEB):c.7865T>G (p.Val2622Gly)
|
rs563691738
|
|
|
NM_001164508.2(NEB):c.7983G>T (p.Trp2661Cys)
|
rs756956766
|
|
|
NM_001164508.2(NEB):c.8469G>A (p.Val2823=)
|
rs1574818802
|
|
|
NM_001164508.2(NEB):c.8718A>C (p.Arg2906Ser)
|
rs753718572
|
|
|
NM_001164508.2(NEB):c.8972T>G (p.Met2991Arg)
|
rs539367087
|
|
|
NM_001164508.2(NEB):c.9631G>A (p.Glu3211Lys)
|
rs757944456
|
|
|
NM_001164665.2(KIAA1549):c.3317G>A (p.Arg1106Gln)
|
rs200423257
|
|
|
NM_001164688.2(RD3):c.468C>T (p.Arg156=)
|
rs148189077
|
|
|
NM_001165963.4(SCN1A):c.4002+2420G>A
|
|
|
|
NM_001166114.2(PNPLA6):c.1608+11C>T
|
rs368627125
|
|
|
NM_001166114.2(PNPLA6):c.1770A>G (p.Gln590=)
|
rs780340075
|
|
|
NM_001166114.2(PNPLA6):c.2937-4G>A
|
rs1178206789
|
|
|
NM_001166114.2(PNPLA6):c.306T>A (p.Ile102=)
|
rs554346890
|
|
|
NM_001166114.2(PNPLA6):c.3726G>A (p.Ala1242=)
|
rs146121276
|
|
|
NM_001166114.2(PNPLA6):c.3882C>G (p.Pro1294=)
|
rs202070445
|
|
|
NM_001170629.2(CHD8):c.1234G>A (p.Ala412Thr)
|
|
|
|
NM_001170629.2(CHD8):c.6447A>G (p.Gln2149=)
|
rs370106194
|
|
|
NM_001170629.2(CHD8):c.7365G>A (p.Gln2455=)
|
rs766944646
|
|
|
NM_001170629.2(CHD8):c.846T>C (p.Gly282=)
|
|
|
|
NM_001171.6(ABCC6):c.1769C>T (p.Ser590Phe)
|
|
|
|
NM_001172509.2(SATB2):c.424A>G (p.Met142Val)
|
rs751779659
|
|
|
NM_001174147.2(LMX1B):c.783C>T (p.Arg261=)
|
|
|
|
NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del)
|
rs532224704
|
|
|
NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn)
|
rs145877051
|
|
|
NM_001177316.2(SLC34A3):c.837G>A (p.Thr279=)
|
rs368153798
|
|
|
NM_001182.5(ALDH7A1):c.1536C>T (p.Ala512=)
|
rs1015790945
|
|
|
NM_001182.5(ALDH7A1):c.201G>T (p.Thr67=)
|
rs747643987
|
|
|
NM_001182.5(ALDH7A1):c.313-10C>A
|
rs567441242
|
|
|
NM_001182.5(ALDH7A1):c.423G>C (p.Val141=)
|
rs199653162
|
|
|
NM_001182.5(ALDH7A1):c.921A>G (p.Glu307=)
|
|
|
|
NM_001184.4(ATR):c.5007T>C (p.Ile1669=)
|
rs2108361083
|
|
|
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=)
|
rs971048873
|
|
|
NM_001190274.2(FBXO11):c.134_154dup (p.Gln51_Gln52insProProProProProGlnGln)
|
|
|
|
NM_001190274.2(FBXO11):c.183_191dup (p.Pro66_Leu67insProProPro)
|
|
|
|
NM_001190274.2(FBXO11):c.2447-10T>C
|
|
|
|
NM_001193315.2(VIPAS39):c.110G>A (p.Arg37Gln)
|
rs537717904
|
|
|
NM_001194998.2(CEP152):c.2895A>G (p.Gln965=)
|
|
|
|
NM_001194998.2(CEP152):c.3071G>T (p.Arg1024Leu)
|
rs199914670
|
|
|
NM_001195248.2(APTX):c.484-25_484-10del
|
rs774597262
|
|
|
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[1] (p.773RS[4])
|
rs762000985
|
|
|
NM_001197104.2(KMT2A):c.1519C>G (p.Pro507Ala)
|
rs191014566
|
|
|
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg)
|
rs574204412
|
|
|
NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp)
|
rs201726561
|
|
|
NM_001199397.3(NEK1):c.2974+11T>C
|
rs886059229
|
|
|
NM_001199397.3(NEK1):c.3141G>A (p.Ser1047=)
|
rs190807750
|
|
|
NM_001199397.3(NEK1):c.3289G>A (p.Val1097Ile)
|
rs374890006
|
|
|
NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys)
|
rs745526568
|
|
|
NM_001199799.2(ILDR1):c.661C>T (p.Arg221Cys)
|
rs182963279
|
|
|
NM_001205293.3(CACNA1E):c.176G>A (p.Arg59Gln)
|
rs535592986
|
|
|
NM_001205293.3(CACNA1E):c.2177A>T (p.Lys726Ile)
|
rs2102509840
|
|
|
NM_001205293.3(CACNA1E):c.2425A>G (p.Asn809Asp)
|
|
|
|
NM_001205293.3(CACNA1E):c.2438C>T (p.Pro813Leu)
|
|
|
|
NM_001205293.3(CACNA1E):c.2460C>T (p.Leu820=)
|
|
|
|
NM_001205293.3(CACNA1E):c.2759G>A (p.Arg920His)
|
|
|
|
NM_001205293.3(CACNA1E):c.2779A>G (p.Arg927Gly)
|
|
|
|
NM_001205293.3(CACNA1E):c.3337AAG[2] (p.Lys1115del)
|
|
|
|
NM_001205293.3(CACNA1E):c.3423-4G>A
|
|
|
|
NM_001205293.3(CACNA1E):c.4692G>A (p.Leu1564=)
|
rs2102723150
|
|
|
NM_001205293.3(CACNA1E):c.4816-19A>T
|
|
|
|
NM_001205293.3(CACNA1E):c.5898+6T>G
|
rs1661213734
|
|
|
NM_001205293.3(CACNA1E):c.6229C>T (p.Arg2077Cys)
|
rs370905391
|
|
|
NM_001205293.3(CACNA1E):c.6863G>A (p.Arg2288His)
|
|
|
|
NM_001206927.2(DNAH8):c.12100C>T (p.Leu4034Phe)
|
rs146505940
|
|
|
NM_001206979.2(NR1H4):c.750C>T (p.Thr250=)
|
rs1322754256
|
|
|
NM_001206999.2(CIT):c.753+8del
|
rs771292782
|
|
|
NM_001212.4(C1QBP):c.241G>A (p.Ala81Thr)
|
|
|
|
NM_001220.5(CAMK2B):c.1568del (p.Pro523fs)
|
|
|
|
NM_001220.5(CAMK2B):c.414+16A>T
|
|
|
|
NM_001235.5(SERPINH1):c.346C>A (p.Arg116Ser)
|
rs200265134
|
|
|
NM_001242957.3(MAK):c.1815T>C (p.Thr605=)
|
rs570463236
|
|
|
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)
|
rs144681140
|
|
|
NM_001243279.3(ACSF3):c.667-9C>T
|
rs369865917
|
|
|
NM_001252024.2(TRPM1):c.2149G>A (p.Ala717Thr)
|
rs138944426
|
|
|
NM_001256007.3(PNPLA8):c.1025A>G (p.Glu342Gly)
|
rs138887728
|
|
|
NM_001256053.2(ANKRD26):c.1815-2_1815del
|
rs564681878
|
|
|
NM_001256071.3(RNF213):c.11096T>C (p.Met3699Thr)
|
|
|
|
NM_001256317.3(TMPRSS3):c.1192-8T>C
|
rs751114709
|
|
|
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu)
|
rs150397427
|
|
|
NM_001256545.2(MEGF10):c.1673G>T (p.Arg558Leu)
|
rs182243856
|
|
|
NM_001256545.2(MEGF10):c.954T>C (p.Val318=)
|
rs1580833127
|
|
|
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
|
|
|
|
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)
|
rs144712077
|
|
|
NM_001261826.3(AP3D1):c.3265-5C>T
|
rs534639518
|
|
|
NM_001267550.2(TTN):c.92871T>C (p.Ala30957=)
|
rs748822553
|
|
|
NM_001271.4(CHD2):c.2189+8C>T
|
rs1486555733
|
|
|
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile)
|
rs761860129
|
|
|
NM_001271.4(CHD2):c.692+10A>G
|
rs370469675
|
|
|
NM_001272071.2(AP1S2):c.252T>C (p.His84=)
|
rs727503807
|
|
|
NM_001277115.2(DNAH11):c.10333-5T>G
|
|
|
|
NM_001277115.2(DNAH11):c.10573T>C (p.Leu3525=)
|
rs886062182
|
|
|
NM_001277115.2(DNAH11):c.10748T>C (p.Leu3583Pro)
|
|
|
|
NM_001277115.2(DNAH11):c.1084G>C (p.Ala362Pro)
|
rs771256529
|
|
|
NM_001277115.2(DNAH11):c.11062-4A>G
|
|
|
|
NM_001277115.2(DNAH11):c.11096A>G (p.Asn3699Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.11534G>T (p.Arg3845Leu)
|
rs371438607
|
|
|
NM_001277115.2(DNAH11):c.11900G>T (p.Gly3967Val)
|
|
|
|
NM_001277115.2(DNAH11):c.11956G>A (p.Val3986Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.13070G>A (p.Arg4357Gln)
|
|
|
|
NM_001277115.2(DNAH11):c.13113G>A (p.Pro4371=)
|
rs148707462
|
|
|
NM_001277115.2(DNAH11):c.13120G>A (p.Val4374Met)
|
|
|
|
NM_001277115.2(DNAH11):c.13176G>A (p.Thr4392=)
|
rs79449551
|
|
|
NM_001277115.2(DNAH11):c.1408C>A (p.Arg470Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.1667G>A (p.Cys556Tyr)
|
|
|
|
NM_001277115.2(DNAH11):c.180C>T (p.Arg60=)
|
rs781089233
|
|
|
NM_001277115.2(DNAH11):c.2374A>C (p.Ile792Leu)
|
rs762314534
|
|
|
NM_001277115.2(DNAH11):c.3969A>G (p.Ile1323Met)
|
|
|
|
NM_001277115.2(DNAH11):c.4037C>T (p.Thr1346Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.4106C>T (p.Ser1369Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.4168A>G (p.Met1390Val)
|
|
|
|
NM_001277115.2(DNAH11):c.447A>G (p.Gly149=)
|
rs886062170
|
|
|
NM_001277115.2(DNAH11):c.5157A>G (p.Thr1719=)
|
rs149538783
|
|
|
NM_001277115.2(DNAH11):c.5242A>G (p.Ile1748Val)
|
|
|
|
NM_001277115.2(DNAH11):c.5692G>A (p.Gly1898Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.5947A>G (p.Ile1983Val)
|
|
|
|
NM_001277115.2(DNAH11):c.5984T>C (p.Met1995Thr)
|
rs1465555535
|
|
|
NM_001277115.2(DNAH11):c.6078C>G (p.Ile2026Met)
|
|
|
|
NM_001277115.2(DNAH11):c.6210T>G (p.Ile2070Met)
|
|
|
|
NM_001277115.2(DNAH11):c.6594G>A (p.Pro2198=)
|
rs200894470
|
|
|
NM_001277115.2(DNAH11):c.6898A>G (p.Ile2300Val)
|
rs767273694
|
|
|
NM_001277115.2(DNAH11):c.7186G>A (p.Asp2396Asn)
|
|
|
|
NM_001277115.2(DNAH11):c.7525G>A (p.Val2509Ile)
|
rs1259559217
|
|
|
NM_001277115.2(DNAH11):c.8023A>G (p.Ile2675Val)
|
rs72657364
|
|
|
NM_001277115.2(DNAH11):c.8511-15G>A
|
rs111471486
|
|
|
NM_001277115.2(DNAH11):c.8821G>A (p.Asp2941Asn)
|
rs776368544
|
|
|
NM_001277115.2(DNAH11):c.883-4T>G
|
|
|
|
NM_001277115.2(DNAH11):c.9044C>T (p.Pro3015Leu)
|
rs749849152
|
|
|
NM_001277115.2(DNAH11):c.9312A>G (p.Gln3104=)
|
rs886062181
|
|
|
NM_001277115.2(DNAH11):c.956A>G (p.Lys319Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.9602A>G (p.Asn3201Ser)
|
rs762025592
|
|
|
NM_001277115.2(DNAH11):c.9664G>A (p.Val3222Met)
|
|
|
|
NM_001277269.2(OTOG):c.7517-5_7518dup
|
rs1295062471
|
|
|
NM_001278064.2(GRM1):c.2796C>G (p.Pro932=)
|
rs1583494731
|
|
|
NM_001278064.2(GRM1):c.3138G>A (p.Pro1046=)
|
|
|
|
NM_001278064.2(GRM1):c.885A>C (p.Thr295=)
|
|
|
|
NM_001278116.2(L1CAM):c.1234C>G (p.Leu412Val)
|
|
|
|
NM_001278116.2(L1CAM):c.1864G>A (p.Asp622Asn)
|
|
|
|
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT
|
rs398123361
|
|
|
NM_001278116.2(L1CAM):c.2750-6C>T
|
|
|
|
NM_001278116.2(L1CAM):c.3020G>A (p.Arg1007Gln)
|
|
|
|
NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu)
|
|
|
|
NM_001282531.3(ADNP):c.2978C>G (p.Pro993Arg)
|
rs1251589256
|
|
|
NM_001282531.3(ADNP):c.3099T>C (p.Tyr1033=)
|
|
|
|
NM_001283009.2(RTEL1):c.3343+8G>A
|
rs768036242
|
|
|
NM_001283009.2(RTEL1):c.732G>A (p.Gly244=)
|
rs919917378
|
|
|
NM_001286577.2(C2CD3):c.1448T>C (p.Leu483Pro)
|
|
|
|
NM_001286577.2(C2CD3):c.1594C>G (p.Leu532Val)
|
|
|
|
NM_001287.6(CLCN7):c.2021G>A (p.Arg674Gln)
|
rs758816489
|
|
|
NM_001288705.3(CSF1R):c.1132C>T (p.Arg378Cys)
|
rs570645140
|
|
|
NM_001288705.3(CSF1R):c.2257C>T (p.Arg753Trp)
|
|
|
|
NM_001288705.3(CSF1R):c.487A>G (p.Thr163Ala)
|
|
|
|
NM_001288705.3(CSF1R):c.592+5G>A
|
|
|
|
NM_001291303.3(FAT4):c.2214C>A (p.Val738=)
|
|
|
|
NM_001291303.3(FAT4):c.2705TGG[1] (p.Val903del)
|
rs541157165
|
|
|
NM_001291415.2(KDM6A):c.1739C>T (p.Thr580Ile)
|
|
|
|
NM_001291415.2(KDM6A):c.65A>C (p.Glu22Ala)
|
rs760601613
|
|
|
NM_001292063.2(OTOG):c.4102C>A (p.Arg1368=)
|
|
|
|
NM_001297.5(CNGB1):c.49C>T (p.Arg17Trp)
|
rs200694933
|
|
|
NM_001312909.2(FAM111A):c.1285C>A (p.Pro429Thr)
|
rs149508004
|
|
|
NM_001322934.2(NFKB2):c.2598T>C (p.Ser866=)
|
|
|
|
NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=)
|
|
|
|
NM_001330078.2(NRXN1):c.543G>A (p.Lys181=)
|
rs1670775186
|
|
|
NM_001330691.3(CEP78):c.779-8A>G
|
rs1040280976
|
|
|
NM_001347721.2(DYRK1A):c.300+7C>T
|
rs537532878
|
|
|
NM_001348800.3(ZBTB20):c.491G>A (p.Arg164Gln)
|
rs1455665941
|
|
|
NM_001349.4(DARS1):c.10GCCAGC[3] (p.4AS[3])
|
rs551090724
|
|
|
NM_001349206.2(LPIN1):c.1852G>A (p.Gly618Arg)
|
rs146100011
|
|
|
NM_001349206.2(LPIN1):c.928C>T (p.Leu310=)
|
rs757007907
|
|
|
NM_001349338.3(FOXP1):c.1162A>T (p.Ser388Cys)
|
|
|
|
NM_001349338.3(FOXP1):c.184C>T (p.Leu62Phe)
|
rs538443416
|
|
|
NM_001349338.3(FOXP1):c.665-7_665-4del
|
rs1453915867
|
|
|
NM_001349338.3(FOXP1):c.728A>G (p.Glu243Gly)
|
|
|
|
NM_001351132.2(PEX5):c.147+77_147+121del
|
|
|
|
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=)
|
rs771923409
|
|
|
NM_001352514.2(HLCS):c.1977G>A (p.Val659=)
|
rs886057075
|
|
|
NM_001352514.2(HLCS):c.2418C>T (p.Val806=)
|
rs759416272
|
|
|
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)
|
rs767700692
|
|
|
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys)
|
rs765150200
|
|
|
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.816-9T>C
|
rs1057522347
|
|
|
NM_001355436.2(SPTB):c.2656G>T (p.Val886Leu)
|
rs146031194
|
|
|
NM_001355436.2(SPTB):c.3154G>A (p.Gly1052Ser)
|
|
|
|
NM_001355436.2(SPTB):c.5689A>G (p.Thr1897Ala)
|
|
|
|
NM_001355436.2(SPTB):c.65G>A (p.Arg22His)
|
|
|
|
NM_001356.5(DDX3X):c.1203C>T (p.Ile401=)
|
|
|
|
NM_001356.5(DDX3X):c.1815_1817del (p.Ser606del)
|
rs2063940085
|
|
|
NM_001358530.2(MOCS1):c.301C>T (p.Leu101=)
|
rs111640560
|
|
|
NM_001358530.2(MOCS1):c.339C>T (p.Leu113=)
|
rs762810343
|
|
|
NM_001358921.2(COQ2):c.138dup (p.Ala47fs)
|
rs759310292
|
|
|
NM_001358921.2(COQ2):c.421-9T>C
|
|
|
|
NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser)
|
rs760242
|
|
|
NM_001360.3(DHCR7):c.231C>G (p.Thr77=)
|
rs4316537
|
|
|
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser)
|
rs146867923
|
|
|
NM_001360.3(DHCR7):c.906C>T (p.Phe302=)
|
rs80338858
|
|
|
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr)
|
rs1050829
|
|
|
NM_001363.5(DKC1):c.915+10G>A
|
rs1603429509
|
|
|
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly)
|
rs143471358
|
|
|
NM_001364171.2(ODAD1):c.598-5C>G
|
|
|
|
NM_001364905.1(LRBA):c.8468+10del
|
rs1454498033
|
|
|
NM_001365951.3(KIF1B):c.883-10_883-7del
|
rs886044975
|
|
|
NM_001365999.1(SZT2):c.5089-4_5089-3del
|
rs762645558
|
|
|
NM_001365999.1(SZT2):c.5603-11A>G
|
rs199939853
|
|
|
NM_001365999.1(SZT2):c.8420-13C>G
|
rs368330210
|
|
|
NM_001367624.2(ZNF469):c.10331G>T (p.Gly3444Val)
|
rs530393871
|
|
|
NM_001367624.2(ZNF469):c.11105C>T (p.Ala3702Val)
|
|
|
|
NM_001367624.2(ZNF469):c.4343_4344delinsTA (p.Pro1448Leu)
|
|
|
|
NM_001367624.2(ZNF469):c.4998G>A (p.Pro1666=)
|
|
|
|
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=)
|
rs184374078
|
|
|
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile)
|
rs886043704
|
|
|
NM_001367721.1(CASK):c.1215A>G (p.Ala405=)
|
rs1555989329
|
|
|
NM_001367721.1(CASK):c.1224A>G (p.Arg408=)
|
rs1555989321
|
|
|
NM_001367721.1(CASK):c.1314+5_1314+8del
|
rs772325722
|
|
|
NM_001367721.1(CASK):c.1669-7C>G
|
rs780719523
|
|
|
NM_001367721.1(CASK):c.2277C>T (p.Leu759=)
|
rs758345399
|
|
|
NM_001369.3(DNAH5):c.10044C>T (p.Pro3348=)
|
rs369902800
|
|
|
NM_001369.3(DNAH5):c.10405A>G (p.Met3469Val)
|
|
|
|
NM_001369.3(DNAH5):c.10552G>C (p.Val3518Leu)
|
|
|
|
NM_001369.3(DNAH5):c.10639C>G (p.Arg3547Gly)
|
rs747041428
|
|
|
NM_001369.3(DNAH5):c.11128C>T (p.Arg3710Cys)
|
|
|
|
NM_001369.3(DNAH5):c.11623A>G (p.Met3875Val)
|
rs1044439678
|
|
|
NM_001369.3(DNAH5):c.11726G>A (p.Arg3909Gln)
|
rs761043906
|
|
|
NM_001369.3(DNAH5):c.11803T>A (p.Ser3935Thr)
|
rs145685491
|
|
|
NM_001369.3(DNAH5):c.12033+7A>C
|
rs77541151
|
|
|
NM_001369.3(DNAH5):c.12151A>G (p.Met4051Val)
|
rs138162689
|
|
|
NM_001369.3(DNAH5):c.12223A>G (p.Met4075Val)
|
|
|
|
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys)
|
rs148696723
|
|
|
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu)
|
rs547445590
|
|
|
NM_001369.3(DNAH5):c.1252G>A (p.Ala418Thr)
|
|
|
|
NM_001369.3(DNAH5):c.12685G>A (p.Asp4229Asn)
|
|
|
|
NM_001369.3(DNAH5):c.12709G>T (p.Val4237Phe)
|
rs138045391
|
|
|
NM_001369.3(DNAH5):c.12936G>A (p.Glu4312=)
|
rs773285536
|
|
|
NM_001369.3(DNAH5):c.12975G>C (p.Gln4325His)
|
|
|
|
NM_001369.3(DNAH5):c.13385T>C (p.Ile4462Thr)
|
|
|
|
NM_001369.3(DNAH5):c.13485G>A (p.Met4495Ile)
|
|
|
|
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu)
|
rs151080414
|
|
|
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys)
|
rs189145014
|
|
|
NM_001369.3(DNAH5):c.1585C>T (p.Arg529Trp)
|
rs200452908
|
|
|
NM_001369.3(DNAH5):c.1602C>A (p.Asp534Glu)
|
rs753367747
|
|
|
NM_001369.3(DNAH5):c.1884G>A (p.Leu628=)
|
rs534702284
|
|
|
NM_001369.3(DNAH5):c.2193C>T (p.Val731=)
|
rs766072810
|
|
|
NM_001369.3(DNAH5):c.3210G>C (p.Gln1070His)
|
|
|
|
NM_001369.3(DNAH5):c.3248A>T (p.Glu1083Val)
|
|
|
|
NM_001369.3(DNAH5):c.358G>A (p.Asp120Asn)
|
|
|
|
NM_001369.3(DNAH5):c.3640A>G (p.Met1214Val)
|
rs766505155
|
|
|
NM_001369.3(DNAH5):c.4960C>T (p.Arg1654Trp)
|
|
|
|
NM_001369.3(DNAH5):c.496C>T (p.Arg166Cys)
|
|
|
|
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val)
|
rs535557021
|
|
|
NM_001369.3(DNAH5):c.5021G>T (p.Ser1674Ile)
|
rs1024785789
|
|
|
NM_001369.3(DNAH5):c.5281C>A (p.Arg1761=)
|
rs148891849
|
|
|
NM_001369.3(DNAH5):c.5282G>A (p.Arg1761Gln)
|
|
|
|
NM_001369.3(DNAH5):c.532G>A (p.Ala178Thr)
|
|
|
|
NM_001369.3(DNAH5):c.5583G>T (p.Gln1861His)
|
|
|
|
NM_001369.3(DNAH5):c.57G>T (p.Thr19=)
|
rs142969794
|
|
|
NM_001369.3(DNAH5):c.6001G>A (p.Val2001Ile)
|
|
|
|
NM_001369.3(DNAH5):c.6049C>T (p.Arg2017Trp)
|
rs143679999
|
|
|
NM_001369.3(DNAH5):c.6265G>A (p.Gly2089Arg)
|
|
|
|
NM_001369.3(DNAH5):c.6676A>G (p.Ile2226Val)
|
rs750936569
|
|
|
NM_001369.3(DNAH5):c.6989-7_6989-5dup
|
rs1460888052
|
|
|
NM_001369.3(DNAH5):c.7459G>A (p.Ala2487Thr)
|
|
|
|
NM_001369.3(DNAH5):c.7571C>T (p.Pro2524Leu)
|
|
|
|
NM_001369.3(DNAH5):c.7631C>T (p.Thr2544Met)
|
|
|
|
NM_001369.3(DNAH5):c.8537C>T (p.Ala2846Val)
|
|
|
|
NM_001369.3(DNAH5):c.8782A>G (p.Met2928Val)
|
|
|
|
NM_001369.3(DNAH5):c.8803A>G (p.Met2935Val)
|
|
|
|
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln)
|
rs200839716
|
|
|
NM_001369.3(DNAH5):c.9125G>T (p.Arg3042Leu)
|
|
|
|
NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu)
|
rs113742238
|
|
|
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly)
|
rs762677340
|
|
|
NM_001369.3(DNAH5):c.9517G>A (p.Val3173Met)
|
|
|
|
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val)
|
rs192262838
|
|
|
NM_001369.3(DNAH5):c.9706G>A (p.Asp3236Asn)
|
|
|
|
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser)
|
rs139293893
|
|
|
NM_001369.3(DNAH5):c.986A>G (p.Glu329Gly)
|
|
|
|
NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr)
|
rs770166503
|
|
|
NM_001369.3(DNAH5):c.9976G>A (p.Val3326Ile)
|
rs149452082
|
|
|
NM_001369268.1(ACAN):c.7531C>T (p.Arg2511Trp)
|
|
|
|
NM_001369369.1(FOXN1):c.123+10C>T
|
rs575898161
|
|
|
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val)
|
rs1298484645
|
|
|
NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln)
|
rs775267651
|
|
|
NM_001370259.2(MEN1):c.1186-10C>T
|
rs762303621
|
|
|
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser)
|
rs541476418
|
|
|
NM_001370259.2(MEN1):c.655-6C>G
|
rs77461664
|
|
|
NM_001370259.2(MEN1):c.784-19TC[2]
|
rs764290037
|
|
|
NM_001370466.1(NOD2):c.2586A>C (p.Gln862His)
|
rs764244331
|
|
|
NM_001371596.2(MFSD8):c.1470A>G (p.Gly490=)
|
rs1477527807
|
|
|
NM_001371928.1(AHDC1):c.175G>A (p.Glu59Lys)
|
|
|
|
NM_001371928.1(AHDC1):c.2495G>A (p.Arg832His)
|
|
|
|
NM_001371928.1(AHDC1):c.2866C>T (p.Arg956Cys)
|
|
|
|
NM_001371928.1(AHDC1):c.3052G>A (p.Ala1018Thr)
|
|
|
|
NM_001371928.1(AHDC1):c.3628G>A (p.Glu1210Lys)
|
|
|
|
NM_001371986.1(UNC80):c.1079G>T (p.Arg360Leu)
|
rs532329476
|
|
|
NM_001371986.1(UNC80):c.398G>C (p.Gly133Ala)
|
rs138421862
|
|
|
NM_001372.4(DNAH9):c.6402G>A (p.Val2134=)
|
|
|
|
NM_001372.4(DNAH9):c.6430C>T (p.Arg2144Trp)
|
|
|
|
NM_001372.4(DNAH9):c.8515G>A (p.Ala2839Thr)
|
|
|
|
NM_001372106.1(DNAH10):c.12281T>C (p.Ile4094Thr)
|
rs182918679
|
|
|
NM_001374385.1(ATP8B1):c.1538T>C (p.Ile513Thr)
|
|
|
|
NM_001374385.1(ATP8B1):c.2209+10T>C
|
rs1555689635
|
|
|
NM_001374385.1(ATP8B1):c.306C>T (p.Tyr102=)
|
rs1555693515
|
|
|
NM_001374385.1(ATP8B1):c.3108C>T (p.Ser1036=)
|
|
|
|
NM_001374385.1(ATP8B1):c.3636G>A (p.Ser1212=)
|
rs748084795
|
|
|
NM_001374385.1(ATP8B1):c.921C>T (p.His307=)
|
rs747429748
|
|
|
NM_001374736.1(DST):c.14441-7_14441-6del
|
rs773495985
|
|
|
NM_001374736.1(DST):c.23195-6C>T
|
|
|
|
NM_001374736.1(DST):c.23348G>C (p.Arg7783Thr)
|
|
|
|
NM_001374828.1(ARID1B):c.1170CGG[11] (p.Gly402_Ser403insGlyGlyGly)
|
|
|
|
NM_001374828.1(ARID1B):c.1170CGG[4] (p.Gly399_Gly402del)
|
rs587779747
|
|
|
NM_001374828.1(ARID1B):c.1211GAG[4] (p.Gly408_Gly411del)
|
rs747790383
|
|
|
NM_001374828.1(ARID1B):c.1235CAGGAG[1] (p.412AG[1])
|
rs747438636
|
|
|
NM_001374828.1(ARID1B):c.1238GAGCAGGAG[1] (p.413GAG[1])
|
rs771557031
|
|
|
NM_001374828.1(ARID1B):c.1266GGC[1] (p.Ala431_Ala433del)
|
rs765410747
|
|
|
NM_001374828.1(ARID1B):c.1281GGC[5] (p.Ala433dup)
|
rs764418312
|
|
|
NM_001374828.1(ARID1B):c.1281_1295del (p.Ala429_Ala433del)
|
rs1457993750
|
|
|
NM_001374828.1(ARID1B):c.1292CAG[4] (p.Ala433dup)
|
rs797045267
|
|
|
NM_001374828.1(ARID1B):c.1303GGC[5] (p.Gly440del)
|
rs797045268
|
|
|
NM_001374828.1(ARID1B):c.1303GGC[7] (p.Gly440dup)
|
rs797045268
|
|
|
NM_001374828.1(ARID1B):c.1619CGG[5] (p.Ala543dup)
|
rs757953295
|
|
|
NM_001374828.1(ARID1B):c.1620GGCGGCGGCGGG[1] (p.541AAAG[1])
|
rs1239601972
|
|
|
NM_001374828.1(ARID1B):c.1631_1636dup (p.Ala545_Ala546insGlyAla)
|
|
|
|
NM_001374828.1(ARID1B):c.506ACCACCACCATGCCCACCACC[1] (p.169HHHHAHH[1])
|
rs767952510
|
|
|
NM_001374828.1(ARID1B):c.5875A>G (p.Ser1959Gly)
|
|
|
|
NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[1] (p.Gln207_Gln214del)
|
rs770869529
|
|
|
NM_001374828.1(ARID1B):c.615GCA[4] (p.Gln212_Gln214del)
|
rs587779744
|
|
|
NM_001374828.1(ARID1B):c.679_690del (p.Gly227_Ala230del)
|
|
|
|
NM_001374828.1(ARID1B):c.886CCG[3] (p.Pro297_Val298insPro)
|
|
|
|
NM_001375524.1(TRRAP):c.1133C>T (p.Thr378Met)
|
|
|
|
NM_001375524.1(TRRAP):c.3196T>C (p.Tyr1066His)
|
rs2116509058
|
|
|
NM_001375524.1(TRRAP):c.531A>G (p.Gln177=)
|
|
|
|
NM_001375524.1(TRRAP):c.5334+3G>A
|
|
|
|
NM_001375524.1(TRRAP):c.7630G>A (p.Ala2544Thr)
|
|
|
|
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=)
|
rs2077138820
|
|
|
NM_001375808.2(LPIN2):c.1939-2del
|
rs745529823
|
|
|
NM_001375808.2(LPIN2):c.2211C>T (p.Ala737=)
|
rs886053765
|
|
|
NM_001376.5(DYNC1H1):c.10693A>G (p.Ser3565Gly)
|
rs2048546542
|
|
|
NM_001376.5(DYNC1H1):c.10754+11G>A
|
rs886050372
|
|
|
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=)
|
rs567247522
|
|
|
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=)
|
rs777166781
|
|
|
NM_001376.5(DYNC1H1):c.12191C>T (p.Thr4064Met)
|
rs750249796
|
|
|
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=)
|
rs961375016
|
|
|
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=)
|
rs138571942
|
|
|
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val)
|
rs1391196036
|
|
|
NM_001376.5(DYNC1H1):c.5049+15G>A
|
rs975753572
|
|
|
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=)
|
rs886050368
|
|
|
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile)
|
rs879253937
|
|
|
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)
|
rs898083162
|
|
|
NM_001376.5(DYNC1H1):c.7014+11T>A
|
rs748466861
|
|
|
NM_001376.5(DYNC1H1):c.8177+12C>T
|
rs367551573
|
|
|
NM_001376.5(DYNC1H1):c.8178-12A>T
|
rs538986139
|
|
|
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=)
|
rs34338935
|
|
|
NM_001377.3(DYNC2H1):c.10152T>G (p.Ala3384=)
|
rs886047574
|
|
|
NM_001377.3(DYNC2H1):c.9846T>C (p.Asp3282=)
|
rs886047572
|
|
|
NM_001377229.1(DISP1):c.4557_4559del (p.Leu1520del)
|
rs753844157
|
|
|
NM_001377265.1(MAPT):c.1156G>A (p.Val386Met)
|
rs747178896
|
|
|
NM_001377295.2(GNAT2):c.257G>A (p.Arg86Gln)
|
rs140250745
|
|
|
NM_001378030.1(CCDC78):c.1134-19C>T
|
rs1320283995
|
|
|
NM_001378120.1(MBD5):c.1837A>G (p.Asn613Asp)
|
rs398124341
|
|
|
NM_001378120.1(MBD5):c.2109G>C (p.Gln703His)
|
rs767521281
|
|
|
NM_001378120.1(MBD5):c.4238A>T (p.Asp1413Val)
|
rs752035001
|
|
|
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=)
|
rs1681478115
|
|
|
NM_001378120.1(MBD5):c.644G>A (p.Arg215His)
|
rs771325235
|
|
|
NM_001378183.1(PIEZO2):c.1883-8A>T
|
|
|
|
NM_001378183.1(PIEZO2):c.2032C>T (p.Leu678=)
|
|
|
|
NM_001378183.1(PIEZO2):c.6776T>C (p.Met2259Thr)
|
|
|
|
NM_001378452.1(ITPR1):c.1614G>A (p.Leu538=)
|
rs1297659569
|
|
|
NM_001378452.1(ITPR1):c.3318C>G (p.Ala1106=)
|
rs2094337722
|
|
|
NM_001378452.1(ITPR1):c.3873C>T (p.Phe1291=)
|
rs567943387
|
|
|
NM_001378452.1(ITPR1):c.5354-10A>G
|
|
|
|
NM_001378452.1(ITPR1):c.7562-10G>A
|
|
|
|
NM_001378454.1(ALMS1):c.10079-11C>A
|
rs368250605
|
|
|
NM_001378454.1(ALMS1):c.10079-4C>G
|
rs1446726516
|
|
|
NM_001378454.1(ALMS1):c.10221TGC[6] (p.Ala3412dup)
|
rs760731440
|
|
|
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=)
|
rs929142880
|
|
|
NM_001378454.1(ALMS1):c.10385-7T>G
|
rs1298945759
|
|
|
NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=)
|
rs1553418487
|
|
|
NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=)
|
rs771595125
|
|
|
NM_001378454.1(ALMS1):c.11669-11del
|
rs1261279730
|
|
|
NM_001378454.1(ALMS1):c.11873-11G>T
|
rs571456553
|
|
|
NM_001378454.1(ALMS1):c.11873-4G>A
|
rs1553421697
|
|
|
NM_001378454.1(ALMS1):c.12150C>A (p.Ser4050=)
|
rs1553421877
|
|
|
NM_001378454.1(ALMS1):c.12299-14C>T
|
rs1352077204
|
|
|
NM_001378454.1(ALMS1):c.12299-15T>C
|
rs1553422033
|
|
|
NM_001378454.1(ALMS1):c.12299-15_12299-12del
|
rs775452962
|
|
|
NM_001378454.1(ALMS1):c.12363-5C>G
|
rs774448248
|
|
|
NM_001378454.1(ALMS1):c.12363-6T>G
|
rs1553422641
|
|
|
NM_001378454.1(ALMS1):c.1237+10C>G
|
rs1291450244
|
|
|
NM_001378454.1(ALMS1):c.12463-10T>C
|
rs754172101
|
|
|
NM_001378454.1(ALMS1):c.12463-9C>G
|
rs1553422761
|
|
|
NM_001378454.1(ALMS1):c.1339-5A>G
|
rs373469023
|
|
|
NM_001378454.1(ALMS1):c.1339-8C>T
|
rs1553401596
|
|
|
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=)
|
rs1402244580
|
|
|
NM_001378454.1(ALMS1):c.325-8A>C
|
rs200740825
|
|
|
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=)
|
rs763511170
|
|
|
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=)
|
rs778267451
|
|
|
NM_001378454.1(ALMS1):c.57G>A (p.Glu19=)
|
rs866503570
|
|
|
NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=)
|
rs770558150
|
|
|
NM_001378454.1(ALMS1):c.647-4A>G
|
rs1553400427
|
|
|
NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=)
|
rs1455390186
|
|
|
NM_001378454.1(ALMS1):c.7541-4C>G
|
rs1380143996
|
|
|
NM_001378454.1(ALMS1):c.765-6T>A
|
rs755762723
|
|
|
NM_001378454.1(ALMS1):c.780G>A (p.Lys260=)
|
rs1553400683
|
|
|
NM_001378454.1(ALMS1):c.9753A>G (p.Gln3251=)
|
rs1553412793
|
|
|
NM_001378454.1(ALMS1):c.9782-6C>T
|
rs1414733616
|
|
|
NM_001378454.1(ALMS1):c.9782-8C>T
|
rs1553414061
|
|
|
NM_001378454.1(ALMS1):c.9908-13C>G
|
rs373325114
|
|
|
NM_001378454.1(ALMS1):c.9908-15C>G
|
rs1389556610
|
|
|
NM_001378457.1(DMXL2):c.7214-10C>A
|
|
|
|
NM_001378457.1(DMXL2):c.7393-15T>C
|
|
|
|
NM_001378457.1(DMXL2):c.8526+8T>C
|
rs768003104
|
|
|
NM_001378609.3(OTOGL):c.1712-3C>A
|
|
|
|
NM_001378609.3(OTOGL):c.2270T>C (p.Phe757Ser)
|
|
|
|
NM_001378609.3(OTOGL):c.335-9del
|
rs754987281
|
|
|
NM_001379110.1(SLC9A6):c.1080+17A>G
|
rs2070960570
|
|
|
NM_001379110.1(SLC9A6):c.81G>A (p.Leu27=)
|
rs2089324822
|
|
|
NM_001379286.1(ZNF423):c.2532G>A (p.Ala844=)
|
|
|
|
NM_001379500.1(COL18A1):c.107-12112_107-12111delinsTT
|
rs1555853999
|
|
|
NM_001379500.1(COL18A1):c.156G>A (p.Pro52=)
|
|
|
|
NM_001379500.1(COL18A1):c.1791TGGGCCCCC[1] (p.594PGP[3])
|
rs764710670
|
|
|
NM_001379500.1(COL18A1):c.2869-8G>T
|
rs770714794
|
|
|
NM_001379500.1(COL18A1):c.2958_2966del (p.985GPP[3])
|
|
|
|
NM_001379500.1(COL18A1):c.2964CCCCCCAGG[1] (p.985GPP[3])
|
rs759403198
|
|
|
NM_001379500.1(COL18A1):c.654G>T (p.Gly218=)
|
|
|
|
NM_001382273.1(TNK2):c.1957G>A (p.Val653Met)
|
rs201407161
|
|
|
NM_001382430.1(AKT1):c.288-4G>T
|
rs778501455
|
|
|
NM_001384140.1(PCDH15):c.1195A>C (p.Ser399Arg)
|
rs199786639
|
|
|
NM_001384140.1(PCDH15):c.1195A>G (p.Ser399Gly)
|
rs199786639
|
|
|
NM_001384140.1(PCDH15):c.189A>G (p.Lys63=)
|
rs1554940478
|
|
|
NM_001384140.1(PCDH15):c.2277T>C (p.Phe759=)
|
rs1565043296
|
|
|
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)
|
rs45483395
|
|
|
NM_001384140.1(PCDH15):c.3341T>G (p.Val1114Gly)
|
rs563855694
|
|
|
NM_001384140.1(PCDH15):c.3502-10del
|
rs750835578
|
|
|
NM_001384140.1(PCDH15):c.3699C>T (p.Ser1233=)
|
rs774857947
|
|
|
NM_001384140.1(PCDH15):c.372A>G (p.Lys124=)
|
|
|
|
NM_001384140.1(PCDH15):c.465A>G (p.Thr155=)
|
rs559193058
|
|
|
NM_001384140.1(PCDH15):c.706-17_706-14del
|
rs886047068
|
|
|
NM_001384474.1(LOXHD1):c.1810-6C>A
|
rs199804946
|
|
|
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup)
|
rs759237437
|
|
|
NM_001384474.1(LOXHD1):c.4096-7del
|
rs1314985669
|
|
|
NM_001384474.1(LOXHD1):c.5113_5125dup (p.Val1709fs)
|
rs876657855
|
|
|
NM_001384474.1(LOXHD1):c.5712C>T (p.Asn1904=)
|
rs746023380
|
|
|
NM_001384732.1(CPLANE1):c.2078A>G (p.Lys693Arg)
|
|
|
|
NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu)
|
rs146595129
|
|
|
NM_001385.3(DPYS):c.1506del (p.Arg503fs)
|
rs79080341
|
|
|
NM_001386393.1(PANK2):c.-28C>T
|
rs544239478
|
|
|
NM_001386393.1(PANK2):c.255G>A (p.Ser85=)
|
rs375741383
|
|
|
NM_001386393.1(PANK2):c.717T>C (p.Ile239=)
|
rs1742717583
|
|
|
NM_001388492.1(HTT):c.2981C>G (p.Thr994Arg)
|
rs190593027
|
|
|
NM_001394062.1(MACF1):c.15828A>C (p.Lys5276Asn)
|
|
|
|
NM_001394062.1(MACF1):c.18710T>C (p.Leu6237Pro)
|
|
|
|
NM_001394062.1(MACF1):c.2153C>A (p.Ser718Tyr)
|
|
|
|
NM_001395413.1(POR):c.1092T>A (p.Pro364=)
|
rs782729580
|
|
|
NM_001395413.1(POR):c.1405G>C (p.Val469Leu)
|
rs72557946
|
|
|
NM_001395413.1(POR):c.562G>A (p.Val188Met)
|
rs201513102
|
|
|
NM_001395413.1(POR):c.615G>A (p.Leu205=)
|
rs782714107
|
|
|
NM_001395656.1(ROBO2):c.3869G>T (p.Arg1290Leu)
|
rs200131009
|
|
|
NM_001429.4(EP300):c.2876G>T (p.Ser959Ile)
|
rs1308182502
|
|
|
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys)
|
rs587778256
|
|
|
NM_001457.4(FLNB):c.1327G>A (p.Val443Ile)
|
rs200902568
|
|
|
NM_001457.4(FLNB):c.1358A>G (p.Asn453Ser)
|
|
|
|
NM_001457.4(FLNB):c.1367G>A (p.Arg456Gln)
|
rs377737248
|
|
|
NM_001457.4(FLNB):c.1409G>A (p.Arg470Gln)
|
rs750354519
|
|
|
NM_001457.4(FLNB):c.1711G>A (p.Val571Met)
|
rs760127618
|
|
|
NM_001457.4(FLNB):c.2130G>C (p.Pro710=)
|
rs371850879
|
|
|
NM_001457.4(FLNB):c.2484+8G>T
|
rs759532391
|
|
|
NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys)
|
rs139875974
|
|
|
NM_001457.4(FLNB):c.317A>G (p.Asn106Ser)
|
|
|
|
NM_001457.4(FLNB):c.3409G>A (p.Val1137Met)
|
rs150475174
|
|
|
NM_001457.4(FLNB):c.3770C>T (p.Pro1257Leu)
|
|
|
|
NM_001457.4(FLNB):c.4172_4173inv (p.Ala1391Val)
|
|
|
|
NM_001457.4(FLNB):c.4362G>C (p.Pro1454=)
|
rs150844992
|
|
|
NM_001457.4(FLNB):c.6367+7G>C
|
rs201871482
|
|
|
NM_001457.4(FLNB):c.7065C>T (p.His2355=)
|
rs886058766
|
|
|
NM_001457.4(FLNB):c.7662C>A (p.Thr2554=)
|
rs200328630
|
|
|
NM_001457.4(FLNB):c.7760G>T (p.Trp2587Leu)
|
rs144321868
|
|
|
NM_001457.4(FLNB):c.798C>T (p.Pro266=)
|
rs1341441238
|
|
|
NM_001457.4(FLNB):c.825C>T (p.Ala275=)
|
rs749545528
|
|
|
NM_001458.5(FLNC):c.1000C>T (p.Arg334Cys)
|
rs372497581
|
|
|
NM_001458.5(FLNC):c.2062G>A (p.Ala688Thr)
|
rs774194364
|
|
|
NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys)
|
rs200864007
|
|
|
NM_001458.5(FLNC):c.3799C>T (p.Arg1267Trp)
|
rs371483562
|
|
|
NM_001458.5(FLNC):c.4301G>A (p.Arg1434His)
|
rs143623535
|
|
|
NM_001458.5(FLNC):c.6799G>A (p.Val2267Ile)
|
rs758080422
|
|
|
NM_001482.3(GATM):c.222C>T (p.Pro74=)
|
rs774485349
|
|
|
NM_001482.3(GATM):c.297A>G (p.Thr99=)
|
rs1445305823
|
|
|
NM_001486.4(GCKR):c.1337_1338delinsCC (p.Leu446Pro)
|
rs2148586064
|
|
|
NM_001486.4(GCKR):c.1555G>A (p.Ala519Thr)
|
|
|
|
NM_001486.4(GCKR):c.548_549del (p.Ser183fs)
|
|
|
|
NM_001497.4(B4GALT1):c.1064+5A>T
|
rs182359666
|
|
|
NM_001510.4(GRID2):c.2032C>G (p.Pro678Ala)
|
|
|
|
NM_001556.3(IKBKB):c.987G>A (p.Glu329=)
|
rs1402092076
|
|
|
NM_001558.4(IL10RA):c.67+11G>A
|
rs376956484
|
|
|
NM_001558.4(IL10RA):c.67+13G>A
|
rs886047707
|
|
|
NM_001567.4(INPPL1):c.1893_1894delinsAA (p.Leu632Ile)
|
rs1565392009
|
|
|
NM_001606.5(ABCA2):c.1193C>A (p.Thr398Lys)
|
rs143473036
|
|
|
NM_001609.4(ACADSB):c.1062T>C (p.Ala354=)
|
rs886046780
|
|
|
NM_001613.4(ACTA2):c.456C>T (p.Gly152=)
|
rs1845848773
|
|
|
NM_001613.4(ACTA2):c.645G>A (p.Lys215=)
|
rs1053760032
|
|
|
NM_001614.5(ACTG1):c.124-6C>T
|
|
|
|
NM_001643.2(APOA2):c.53-43TG[17]
|
rs17244502
|
|
|
NM_001692.4(ATP6V1B1):c.1249-15_1249-11del
|
rs886056273
|
|
|
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)
|
rs145735762
|
|
|
NM_001698.3(AUH):c.951A>T (p.Pro317=)
|
rs530710210
|
|
|
NM_001701.4(BAAT):c.9G>A (p.Gln3=)
|
rs149369902
|
|
|
NM_001709.5(BDNF):c.5C>T (p.Thr2Ile)
|
rs8192466
|
|
|
NM_001711.6(BGN):c.383A>T (p.Lys128Met)
|
|
|
|
NM_001711.6(BGN):c.771-7C>A
|
rs782014544
|
|
|
NM_001715.3(BLK):c.473-7C>G
|
rs200091252
|
|
|
NM_001735.3(C5):c.4083A>G (p.Val1361=)
|
|
|
|
NM_001754.5(RUNX1):c.744C>T (p.Asn248=)
|
rs1555889947
|
|
|
NM_001792.5(CDH2):c.2103C>T (p.Cys701=)
|
rs751271722
|
|
|
NM_001792.5(CDH2):c.2603G>A (p.Gly868Glu)
|
|
|
|
NM_001793.6(CDH3):c.2430C>T (p.Asn810=)
|
rs774229703
|
|
|
NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser)
|
rs755043901
|
|
|
NM_001844.5(COL2A1):c.1077C>T (p.Val359=)
|
rs202002349
|
|
|
NM_001844.5(COL2A1):c.1129G>T (p.Ala377Ser)
|
rs1045330263
|
|
|
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr)
|
rs556023617
|
|
|
NM_001844.5(COL2A1):c.146C>T (p.Pro49Leu)
|
|
|
|
NM_001844.5(COL2A1):c.2485C>G (p.Pro829Ala)
|
rs745794356
|
|
|
NM_001844.5(COL2A1):c.262A>G (p.Ile88Val)
|
rs760745824
|
|
|
NM_001844.5(COL2A1):c.2714T>C (p.Val905Ala)
|
rs1271505111
|
|
|
NM_001844.5(COL2A1):c.3222C>A (p.Gly1074=)
|
rs746453469
|
|
|
NM_001844.5(COL2A1):c.3252G>T (p.Lys1084Asn)
|
|
|
|
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly)
|
rs1180226091
|
|
|
NM_001844.5(COL2A1):c.3316C>T (p.Arg1106Trp)
|
rs374036874
|
|
|
NM_001844.5(COL2A1):c.3439C>G (p.Pro1147Ala)
|
rs139720910
|
|
|
NM_001844.5(COL2A1):c.3511C>T (p.Pro1171Ser)
|
rs147750391
|
|
|
NM_001844.5(COL2A1):c.3756C>A (p.Asp1252Glu)
|
rs377079894
|
|
|
NM_001844.5(COL2A1):c.4005C>T (p.Asn1335=)
|
|
|
|
NM_001844.5(COL2A1):c.4414G>C (p.Gly1472Arg)
|
rs763352763
|
|
|
NM_001844.5(COL2A1):c.4436T>C (p.Val1479Ala)
|
rs1414146646
|
|
|
NM_001844.5(COL2A1):c.505C>A (p.Pro169Thr)
|
rs770027510
|
|
|
NM_001844.5(COL2A1):c.970-5T>C
|
rs2136605096
|
|
|
NM_001845.6(COL4A1):c.1605C>A (p.Phe535Leu)
|
|
|
|
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His)
|
rs199573161
|
|
|
NM_001845.6(COL4A1):c.2144G>T (p.Arg715Leu)
|
rs199573161
|
|
|
NM_001845.6(COL4A1):c.3325+8A>C
|
|
|
|
NM_001845.6(COL4A1):c.3825A>G (p.Gly1275=)
|
|
|
|
NM_001845.6(COL4A1):c.4151-10T>C
|
|
|
|
NM_001846.4(COL4A2):c.2351G>A (p.Arg784Gln)
|
|
|
|
NM_001846.4(COL4A2):c.3169C>G (p.Pro1057Ala)
|
rs201763437
|
|
|
NM_001846.4(COL4A2):c.4450C>T (p.Arg1484Cys)
|
|
|
|
NM_001846.4(COL4A2):c.4754C>G (p.Pro1585Arg)
|
|
|
|
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu)
|
rs765826390
|
|
|
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys)
|
rs375217284
|
|
|
NM_001851.6(COL9A1):c.1342-11_1342-3del
|
rs774856588
|
|
|
NM_001851.6(COL9A1):c.1396-6T>C
|
rs1360782538
|
|
|
NM_001851.6(COL9A1):c.2076A>G (p.Glu692=)
|
rs557157592
|
|
|
NM_001851.6(COL9A1):c.468A>T (p.Ser156=)
|
|
|
|
NM_001851.6(COL9A1):c.559G>A (p.Val187Met)
|
rs773143381
|
|
|
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu)
|
rs146700420
|
|
|
NM_001852.4(COL9A2):c.364-16A>G
|
rs1979785
|
|
|
NM_001852.4(COL9A2):c.480G>A (p.Pro160=)
|
rs745522018
|
|
|
NM_001852.4(COL9A2):c.747T>G (p.His249Gln)
|
rs747499674
|
|
|
NM_001853.4(COL9A3):c.701G>C (p.Arg234Pro)
|
rs150885737
|
|
|
NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro)
|
rs141036911
|
|
|
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile)
|
rs141817156
|
|
|
NM_001854.4(COL11A1):c.1263A>G (p.Ala421=)
|
rs760330151
|
|
|
NM_001854.4(COL11A1):c.1309-4A>T
|
|
|
|
NM_001854.4(COL11A1):c.1792-39ATG[13]
|
rs71752747
|
|
|
NM_001854.4(COL11A1):c.1945-19C>T
|
rs1571000550
|
|
|
NM_001854.4(COL11A1):c.2003T>C (p.Met668Thr)
|
rs767790003
|
|
|
NM_001854.4(COL11A1):c.2196+17T>C
|
|
|
|
NM_001854.4(COL11A1):c.2976T>C (p.Pro992=)
|
rs368868551
|
|
|
NM_001854.4(COL11A1):c.3069A>G (p.Ala1023=)
|
|
|
|
NM_001854.4(COL11A1):c.4172A>T (p.Lys1391Ile)
|
|
|
|
NM_001854.4(COL11A1):c.4228C>T (p.Arg1410Trp)
|
rs778331804
|
|
|
NM_001854.4(COL11A1):c.4814G>A (p.Arg1605Gln)
|
|
|
|
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met)
|
rs184606223
|
|
|
NM_001854.4(COL11A1):c.67G>T (p.Ala23Ser)
|
rs1386580787
|
|
|
NM_001854.4(COL11A1):c.787C>A (p.Pro263Thr)
|
rs372319750
|
|
|
NM_001875.5(CPS1):c.1982-8A>T
|
rs563304664
|
|
|
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu)
|
rs551261693
|
|
|
NM_001875.5(CPS1):c.2453C>T (p.Pro818Leu)
|
|
|
|
NM_001875.5(CPS1):c.2475C>T (p.Pro825=)
|
rs751784059
|
|
|
NM_001875.5(CPS1):c.2688-12A>G
|
rs376699772
|
|
|
NM_001875.5(CPS1):c.2771C>T (p.Thr924Ile)
|
rs150463750
|
|
|
NM_001875.5(CPS1):c.2959+8_2959+14del
|
rs765645129
|
|
|
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser)
|
rs761921978
|
|
|
NM_001875.5(CPS1):c.3481-7G>C
|
rs368909569
|
|
|
NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val)
|
rs769593170
|
|
|
NM_001875.5(CPS1):c.4237C>G (p.Gln1413Glu)
|
|
|
|
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)
|
|
|
|
NM_001875.5(CPS1):c.74C>T (p.Ala25Val)
|
rs149570645
|
|
|
NM_001876.4(CPT1A):c.160G>T (p.Val54Leu)
|
rs147389938
|
|
|
NM_001876.4(CPT1A):c.1653C>T (p.Phe551=)
|
rs1314725177
|
|
|
NM_001876.4(CPT1A):c.1704C>T (p.Ala568=)
|
rs1855045353
|
|
|
NM_001876.4(CPT1A):c.1958T>C (p.Ile653Thr)
|
|
|
|
NM_001876.4(CPT1A):c.2013C>A (p.Ser671=)
|
rs755323437
|
|
|
NM_001876.4(CPT1A):c.2235+9G>A
|
rs1946761066
|
|
|
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile)
|
rs542856213
|
|
|
NM_001903.5(CTNNA1):c.1311C>G (p.Ala437=)
|
rs777730458
|
|
|
NM_001903.5(CTNNA1):c.1547-11T>A
|
rs1763590511
|
|
|
NM_001903.5(CTNNA1):c.2434-5C>G
|
rs369052669
|
|
|
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys)
|
rs772490888
|
|
|
NM_001918.5(DBT):c.1389C>T (p.Phe463=)
|
rs886044964
|
|
|
NM_001927.4(DES):c.735+11G>A
|
rs1559352868
|
|
|
NM_001933.5(DLST):c.147-17G>C
|
rs201278080
|
|
|
NM_001943.5(DSG2):c.1932T>C (p.Phe644=)
|
rs2073265410
|
|
|
NM_001943.5(DSG2):c.2178T>C (p.Ser726=)
|
rs749897373
|
|
|
NM_001943.5(DSG2):c.45+10G>T
|
rs776975980
|
|
|
NM_001943.5(DSG2):c.828+13C>A
|
rs180926981
|
|
|
NM_001953.5(TYMP):c.1044G>A (p.Ala348=)
|
rs886057633
|
|
|
NM_001953.5(TYMP):c.1321C>T (p.His441Tyr)
|
rs781153870
|
|
|
NM_001953.5(TYMP):c.190G>A (p.Gly64Arg)
|
rs767063709
|
|
|
NM_001953.5(TYMP):c.910G>A (p.Asp304Asn)
|
rs570438867
|
|
|
NM_001987.5(ETV6):c.843C>G (p.Pro281=)
|
|
|
|
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His)
|
rs139620380
|
|
|
NM_001999.4(FBN2):c.3218-13A>T
|
rs200543836
|
|
|
NM_001999.4(FBN2):c.6167-4G>A
|
rs370981323
|
|
|
NM_001999.4(FBN2):c.645G>T (p.Pro215=)
|
rs764473594
|
|
|
NM_002076.4(GNS):c.939T>G (p.Thr313=)
|
rs1869657867
|
|
|
NM_002103.5(GYS1):c.235C>T (p.Leu79=)
|
rs886054573
|
|
|
NM_002103.5(GYS1):c.417C>T (p.Ile139=)
|
rs758550328
|
|
|
NM_002133.3(HMOX1):c.709C>G (p.Arg237Gly)
|
rs145427664
|
|
|
NM_002181.4(IHH):c.228_229delinsAA (p.Arg77Ser)
|
rs886043368
|
|
|
NM_002185.5(IL7R):c.221+7G>A
|
rs200937717
|
|
|
NM_002185.5(IL7R):c.82+14A>T
|
|
|
|
NM_002225.5(IVD):c.438A>G (p.Lys146=)
|
rs1007239169
|
|
|
NM_002225.5(IVD):c.870G>T (p.Gly290=)
|
rs1285915480
|
|
|
NM_002230.4(JUP):c.2055C>T (p.Ser685=)
|
rs1913708075
|
|
|
NM_002234.4(KCNA5):c.186G>C (p.Ser62=)
|
rs760015626
|
|
|
NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del)
|
rs144879674
|
|
|
NM_002242.4(KCNJ13):c.474G>T (p.Ala158=)
|
rs769501717
|
|
|
NM_002242.4(KCNJ13):c.558T>C (p.Asn186=)
|
rs886043769
|
|
|
NM_002250.3(KCNN4):c.1018C>A (p.His340Asn)
|
|
|
|
NM_002291.3(LAMB1):c.1422C>G (p.Ser474=)
|
rs780369106
|
|
|
NM_002292.4(LAMB2):c.916-4A>G
|
rs886058677
|
|
|
NM_002303.6(LEPR):c.1298A>G (p.Asn433Ser)
|
|
|
|
NM_002303.6(LEPR):c.575A>C (p.Glu192Ala)
|
|
|
|
NM_002303.6(LEPR):c.893T>C (p.Ile298Thr)
|
|
|
|
NM_002335.4(LRP5):c.34CTG[7] (p.Leu19_Leu20del)
|
rs72555376
|
|
|
NM_002335.4(LRP5):c.3552C>A (p.Thr1184=)
|
rs764663599
|
|
|
NM_002350.4(LYN):c.133-4G>A
|
|
|
|
NM_002381.5(MATN3):c.132C>T (p.Pro44=)
|
rs886043710
|
|
|
NM_002435.3(MPI):c.1086G>A (p.Leu362=)
|
rs905233208
|
|
|
NM_002435.3(MPI):c.1212C>T (p.Val404=)
|
rs2064843052
|
|
|
NM_002435.3(MPI):c.670+9A>T
|
rs7495739
|
|
|
NM_002435.3(MPI):c.845-10G>C
|
rs748693066
|
|
|
NM_002437.5(MPV17):c.279+9_279+11del
|
rs751559319
|
|
|
NM_002437.5(MPV17):c.450C>T (p.Pro150=)
|
rs1244633595
|
|
|
NM_002439.5(MSH3):c.153TGCAGCGGC[3] (p.Ala60_Ala62dup)
|
rs758595508
|
|
|
NM_002439.5(MSH3):c.1911G>A (p.Glu637=)
|
rs1005120343
|
|
|
NM_002439.5(MSH3):c.3003G>A (p.Val1001=)
|
|
|
|
NM_002444.3(MSN):c.1222C>T (p.Arg408Trp)
|
rs748200741
|
|
|
NM_002454.3(MTRR):c.1998A>G (p.Gln666=)
|
rs767507060
|
|
|
NM_002454.3(MTRR):c.99A>C (p.Ala33=)
|
rs1747850617
|
|
|
NM_002465.4(MYBPC1):c.665+8C>T
|
rs199628742
|
|
|
NM_002470.4(MYH3):c.1960-5C>T
|
|
|
|
NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln)
|
rs145785711
|
|
|
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr)
|
rs762745890
|
|
|
NM_002473.6(MYH9):c.2267T>C (p.Ile756Thr)
|
|
|
|
NM_002473.6(MYH9):c.2404C>T (p.Arg802Trp)
|
|
|
|
NM_002473.6(MYH9):c.2632-8_2632-6del
|
rs773975934
|
|
|
NM_002473.6(MYH9):c.2728A>C (p.Lys910Gln)
|
|
|
|
NM_002473.6(MYH9):c.2976+9C>T
|
|
|
|
NM_002473.6(MYH9):c.3817G>A (p.Asp1273Asn)
|
rs147031322
|
|
|
NM_002473.6(MYH9):c.4009G>A (p.Glu1337Lys)
|
rs1038334022
|
|
|
NM_002473.6(MYH9):c.4179C>G (p.Asp1393Glu)
|
rs727504829
|
|
|
NM_002473.6(MYH9):c.4406C>T (p.Ala1469Val)
|
|
|
|
NM_002473.6(MYH9):c.5107C>T (p.Arg1703Trp)
|
rs569541375
|
|
|
NM_002473.6(MYH9):c.5711C>T (p.Thr1904Ile)
|
|
|
|
NM_002473.6(MYH9):c.5788G>A (p.Val1930Met)
|
rs142565774
|
|
|
NM_002473.6(MYH9):c.5854G>C (p.Asp1952His)
|
|
|
|
NM_002474.3(MYH11):c.1341C>A (p.Thr447=)
|
rs200660016
|
|
|
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln)
|
rs762308378
|
|
|
NM_002474.3(MYH11):c.3255G>A (p.Leu1085=)
|
rs768298662
|
|
|
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met)
|
rs201960644
|
|
|
NM_002485.5(NBN):c.1124+5A>T
|
rs587782108
|
|
|
NM_002485.5(NBN):c.1194A>G (p.Gln398=)
|
rs200046373
|
|
|
NM_002485.5(NBN):c.1232C>G (p.Ser411Cys)
|
rs551032019
|
|
|
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys)
|
rs755805461
|
|
|
NM_002485.5(NBN):c.1891C>G (p.Leu631Val)
|
rs1064793477
|
|
|
NM_002485.5(NBN):c.2071-4A>T
|
rs746994234
|
|
|
NM_002485.5(NBN):c.2071-6C>A
|
rs768670249
|
|
|
NM_002485.5(NBN):c.2185-7T>G
|
rs1563497932
|
|
|
NM_002485.5(NBN):c.27C>T (p.Gly9=)
|
rs1554569662
|
|
|
NM_002485.5(NBN):c.37+8C>T
|
rs1554569655
|
|
|
NM_002485.5(NBN):c.396A>G (p.Ile132Met)
|
rs1060503462
|
|
|
NM_002485.5(NBN):c.584+6T>C
|
rs1554566602
|
|
|
NM_002485.5(NBN):c.703-3T>C
|
rs876659566
|
|
|
NM_002528.7(NTHL1):c.108T>A (p.Ala36=)
|
|
|
|
NM_002528.7(NTHL1):c.115+10C>T
|
rs756945300
|
|
|
NM_002528.7(NTHL1):c.373C>T (p.Leu125=)
|
rs1397440217
|
|
|
NM_002528.7(NTHL1):c.384G>C (p.Leu128=)
|
rs755185485
|
|
|
NM_002528.7(NTHL1):c.525+10G>A
|
rs2150942168
|
|
|
NM_002528.7(NTHL1):c.526-10T>G
|
rs199771569
|
|
|
NM_002528.7(NTHL1):c.564G>A (p.Leu188=)
|
rs1596219422
|
|
|
NM_002528.7(NTHL1):c.585C>T (p.Asp195=)
|
rs2150941343
|
|
|
NM_002528.7(NTHL1):c.686-9T>C
|
rs1213514224
|
|
|
NM_002528.7(NTHL1):c.705C>T (p.His235=)
|
rs992194912
|
|
|
NM_002528.7(NTHL1):c.743C>T (p.Thr248Ile)
|
rs577781337
|
|
|
NM_002528.7(NTHL1):c.792-3C>T
|
rs3087467
|
|
|
NM_002529.4(NTRK1):c.1196-9T>C
|
rs760602338
|
|
|
NM_002529.4(NTRK1):c.1521C>T (p.Arg507=)
|
rs901135479
|
|
|
NM_002529.4(NTRK1):c.1569G>A (p.Lys523=)
|
rs1647889781
|
|
|
NM_002529.4(NTRK1):c.213-5C>G
|
rs757323460
|
|
|
NM_002529.4(NTRK1):c.2205+13C>A
|
rs1648175536
|
|
|
NM_002529.4(NTRK1):c.2214C>T (p.Asp738=)
|
rs1648253157
|
|
|
NM_002529.4(NTRK1):c.2301G>A (p.Glu767=)
|
rs753397054
|
|
|
NM_002529.4(NTRK1):c.435G>C (p.Leu145=)
|
rs1647275742
|
|
|
NM_002529.4(NTRK1):c.468G>C (p.Leu156=)
|
rs991397214
|
|
|
NM_002609.4(PDGFRB):c.1399G>A (p.Gly467Arg)
|
|
|
|
NM_002609.4(PDGFRB):c.2791G>A (p.Asp931Asn)
|
|
|
|
NM_002609.4(PDGFRB):c.3181G>A (p.Asp1061Asn)
|
|
|
|
NM_002615.7(SERPINF1):c.392C>A (p.Ala131Asp)
|
rs148005190
|
|
|
NM_002618.4(PEX13):c.383G>T (p.Gly128Val)
|
rs554152771
|
|
|
NM_002618.4(PEX13):c.417A>G (p.Ala139=)
|
rs886056197
|
|
|
NM_002633.3(PGM1):c.1029-8C>G
|
rs752232600
|
|
|
NM_002633.3(PGM1):c.1065C>A (p.Thr355=)
|
rs773677629
|
|
|
NM_002633.3(PGM1):c.741G>A (p.Ser247=)
|
rs142222746
|
|
|
NM_002667.5(PLN):c.90T>C (p.Asn30=)
|
rs868301643
|
|
|
NM_002691.4(POLD1):c.1138-3C>A
|
rs200072694
|
|
|
NM_002691.4(POLD1):c.1138-4C>G
|
rs1601205954
|
|
|
NM_002691.4(POLD1):c.1138-5C>A
|
rs1374129343
|
|
|
NM_002691.4(POLD1):c.1138-5C>T
|
rs1374129343
|
|
|
NM_002691.4(POLD1):c.1140C>A (p.Ala380=)
|
rs1555790554
|
|
|
NM_002691.4(POLD1):c.1495-3C>T
|
rs1555791320
|
|
|
NM_002691.4(POLD1):c.1687-5C>T
|
rs199733325
|
|
|
NM_002691.4(POLD1):c.1716G>T (p.Val572=)
|
rs1568628387
|
|
|
NM_002691.4(POLD1):c.1776-4C>T
|
rs1568630035
|
|
|
NM_002691.4(POLD1):c.2007-4G>C
|
rs202035484
|
|
|
NM_002691.4(POLD1):c.2007-4G>T
|
rs202035484
|
|
|
NM_002691.4(POLD1):c.208G>T (p.Val70Phe)
|
rs147911699
|
|
|
NM_002691.4(POLD1):c.2155-5G>A
|
rs891420901
|
|
|
NM_002691.4(POLD1):c.2565-5T>C
|
rs2122474072
|
|
|
NM_002691.4(POLD1):c.3009G>T (p.Leu1003=)
|
rs747794145
|
|
|
NM_002691.4(POLD1):c.3068-5C>T
|
rs759650325
|
|
|
NM_002691.4(POLD1):c.758+4C>G
|
rs771346692
|
|
|
NM_002691.4(POLD1):c.971-4G>T
|
rs200144991
|
|
|
NM_002691.4(POLD1):c.971-5C>G
|
rs778993986
|
|
|
NM_002691.4(POLD1):c.971-5C>T
|
rs778993986
|
|
|
NM_002693.3(POLG):c.3482+6C>T
|
rs55779802
|
|
|
NM_002700.3(POU4F3):c.228C>T (p.Pro76=)
|
rs1581278124
|
|
|
NM_002709.3(PPP1CB):c.744+8A>G
|
|
|
|
NM_002734.5(PRKAR1A):c.770-8T>G
|
rs182841147
|
|
|
NM_002769.5(PRSS1):c.360C>T (p.Asn120=)
|
rs606231348
|
|
|
NM_002769.5(PRSS1):c.454+75A>G
|
rs1376416883
|
|
|
NM_002775.5(HTRA1):c.879C>A (p.Thr293=)
|
|
|
|
NM_002778.4(PSAP):c.1278C>T (p.Asn426=)
|
rs777227555
|
|
|
NM_002838.5(PTPRC):c.2142+7A>G
|
rs764731559
|
|
|
NM_002857.4(PEX19):c.181-4G>T
|
rs747572423
|
|
|
NM_002858.4(ABCD3):c.122G>A (p.Gly41Glu)
|
|
|
|
NM_002863.5(PYGL):c.1768+10C>T
|
rs780893472
|
|
|
NM_002863.5(PYGL):c.1970-7C>G
|
|
|
|
NM_002863.5(PYGL):c.2197T>C (p.Tyr733His)
|
|
|
|
NM_002878.4(RAD51D):c.577-6C>A
|
rs1210749655
|
|
|
NM_002890.3(RASA1):c.1611-15G>A
|
rs1760796647
|
|
|
NM_002890.3(RASA1):c.2049G>C (p.Gly683=)
|
rs886060841
|
|
|
NM_002890.3(RASA1):c.75G>A (p.Ala25=)
|
rs529924262
|
|
|
NM_002890.3(RASA1):c.899+8A>G
|
rs781285667
|
|
|
NM_002900.3(RBP3):c.1641G>A (p.Thr547=)
|
rs534717081
|
|
|
NM_002907.4(RECQL):c.1848G>A (p.Glu616=)
|
rs1369932572
|
|
|
NM_002907.4(RECQL):c.701-10_701-7del
|
rs770192412
|
|
|
NM_002941.4(ROBO1):c.3503_3505dup (p.Gly1168dup)
|
rs148625921
|
|
|
NM_002941.4(ROBO1):c.4378C>A (p.Pro1460Thr)
|
|
|
|
NM_002972.4(SBF1):c.1333-6C>G
|
rs781476014
|
|
|
NM_002972.4(SBF1):c.3689-9C>A
|
|
|
|
NM_002972.4(SBF1):c.738C>T (p.Leu246=)
|
rs374299843
|
|
|
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln)
|
rs557289756
|
|
|
NM_003038.5(SLC1A4):c.1313T>C (p.Ile438Thr)
|
rs141895894
|
|
|
NM_003051.4(SLC16A1):c.362-58TATT[13]
|
rs149491709
|
|
|
NM_003051.4(SLC16A1):c.362-58TATT[9]
|
rs149491709
|
|
|
NM_003060.4(SLC22A5):c.252C>T (p.Tyr84=)
|
rs1253026669
|
|
|
NM_003072.5(SMARCA4):c.1944-12C>A
|
rs149763341
|
|
|
NM_003072.5(SMARCA4):c.2275-3C>T
|
rs117611401
|
|
|
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val)
|
rs535299273
|
|
|
NM_003072.5(SMARCA4):c.4171-1861A>G
|
rs771462690
|
|
|
NM_003072.5(SMARCA4):c.4636-10C>A
|
rs878854228
|
|
|
NM_003073.5(SMARCB1):c.90C>T (p.Ser30=)
|
rs761868468
|
|
|
NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[1] (p.347SGSS[1])
|
rs751221446
|
|
|
NM_003119.4(SPG7):c.1923C>T (p.Asn641=)
|
|
|
|
NM_003119.4(SPG7):c.763C>T (p.Leu255=)
|
rs2058311848
|
|
|
NM_003126.4(SPTA1):c.1702C>T (p.Arg568Cys)
|
|
|
|
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His)
|
rs200829664
|
|
|
NM_003126.4(SPTA1):c.1703G>C (p.Arg568Pro)
|
rs200829664
|
|
|
NM_003126.4(SPTA1):c.2204C>T (p.Ala735Val)
|
|
|
|
NM_003126.4(SPTA1):c.3674A>G (p.His1225Arg)
|
|
|
|
NM_003126.4(SPTA1):c.466C>T (p.Arg156Trp)
|
|
|
|
NM_003126.4(SPTA1):c.5911-17_5911-8del
|
rs554241455
|
|
|
NM_003126.4(SPTA1):c.6250G>C (p.Asp2084His)
|
|
|
|
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr)
|
rs150007668
|
|
|
NM_003172.4(SURF1):c.226T>C (p.Leu76=)
|
rs782036327
|
|
|
NM_003183.6(ADAM17):c.1545-7_1545-5del
|
rs372560151
|
|
|
NM_003193.5(TBCE):c.660+9_660+10del
|
rs569925016
|
|
|
NM_003200.5(TCF3):c.550-5C>T
|
|
|
|
NM_003200.5(TCF3):c.550-8G>A
|
|
|
|
NM_003238.6(TGFB2):c.510+9C>T
|
rs1481374757
|
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
|
NM_003283.6(TNNT1):c.611+12G>A
|
rs376456377
|
|
|
NM_003283.6(TNNT1):c.611+12G>T
|
rs376456377
|
|
|
NM_003322.6(TULP1):c.1266C>T (p.Thr422=)
|
rs747534563
|
|
|
NM_003322.6(TULP1):c.829-7C>G
|
rs780382505
|
|
|
NM_003322.6(TULP1):c.846G>A (p.Pro282=)
|
rs149980694
|
|
|
NM_003322.6(TULP1):c.915G>A (p.Val305=)
|
rs1040415272
|
|
|
NM_003331.5(TYK2):c.2618-14C>G
|
rs532521303
|
|
|
NM_003331.5(TYK2):c.2715+9C>T
|
rs886054132
|
|
|
NM_003331.5(TYK2):c.789C>T (p.Leu263=)
|
|
|
|
NM_003383.5(VLDLR):c.203-4G>A
|
|
|
|
NM_003392.7(WNT5A):c.141-8C>T
|
rs188798140
|
|
|
NM_003394.4(WNT10B):c.854T>C (p.Ile285Thr)
|
|
|
|
NM_003477.3(PDHX):c.160+9C>T
|
rs886042781
|
|
|
NM_003477.3(PDHX):c.343-7A>C
|
rs764804589
|
|
|
NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val)
|
rs1943073751
|
|
|
NM_003482.4(KMT2D):c.11162TGCAGC[3] (p.3721LQ[3])
|
rs771711980
|
|
|
NM_003482.4(KMT2D):c.11568GCA[6] (p.Gln3863dup)
|
rs748986705
|
|
|
NM_003482.4(KMT2D):c.11850GCA[1] (p.Gln3954del)
|
rs886049475
|
|
|
NM_003482.4(KMT2D):c.1306GAG[1] (p.Glu437del)
|
rs771787499
|
|
|
NM_003482.4(KMT2D):c.13324G>A (p.Ala4442Thr)
|
|
|
|
NM_003482.4(KMT2D):c.176+15G>A
|
rs1415205254
|
|
|
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln)
|
rs200088180
|
|
|
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr)
|
rs143711798
|
|
|
NM_003482.4(KMT2D):c.3061C>T (p.Pro1021Ser)
|
|
|
|
NM_003482.4(KMT2D):c.4723A>C (p.Met1575Leu)
|
rs762474552
|
|
|
NM_003482.4(KMT2D):c.7814A>G (p.Tyr2605Cys)
|
|
|
|
NM_003482.4(KMT2D):c.8032G>C (p.Glu2678Gln)
|
|
|
|
NM_003482.4(KMT2D):c.8241C>A (p.Ser2747Arg)
|
rs1943376258
|
|
|
NM_003482.4(KMT2D):c.9822GCA[5] (p.Gln3282dup)
|
rs768814728
|
|
|
NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser)
|
rs1291730464
|
|
|
NM_003494.4(DYSF):c.4C>T (p.Leu2=)
|
rs772536111
|
|
|
NM_003560.4(PLA2G6):c.266C>A (p.Ser89Tyr)
|
rs142715413
|
|
|
NM_003590.5(CUL3):c.696A>G (p.Val232=)
|
|
|
|
NM_003632.3(CNTNAP1):c.170-6C>G
|
|
|
|
NM_003640.5(ELP1):c.1189+20G>A
|
rs999307275
|
|
|
NM_003659.4(AGPS):c.638-7T>C
|
rs886044553
|
|
|
NM_003718.5(CDK13):c.1906_1908del (p.Lys636del)
|
|
|
|
NM_003722.5(TP63):c.435G>C (p.Ala145=)
|
rs546908184
|
|
|
NM_003737.4(DCHS1):c.1936C>G (p.Arg646Gly)
|
rs199875933
|
|
|
NM_003737.4(DCHS1):c.2595G>A (p.Val865=)
|
rs541336434
|
|
|
NM_003737.4(DCHS1):c.5972G>A (p.Arg1991His)
|
|
|
|
NM_003737.4(DCHS1):c.7207C>T (p.Arg2403Trp)
|
rs141901540
|
|
|
NM_003737.4(DCHS1):c.8186A>T (p.His2729Leu)
|
rs148148252
|
|
|
NM_003737.4(DCHS1):c.8611C>T (p.Arg2871Trp)
|
|
|
|
NM_003737.4(DCHS1):c.8972G>A (p.Arg2991Gln)
|
rs200152314
|
|
|
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)
|
rs56126236
|
|
|
NM_003742.4(ABCB11):c.1435-13_1435-8del
|
rs748716950
|
|
|
NM_003742.4(ABCB11):c.1441G>A (p.Val481Met)
|
|
|
|
NM_003742.4(ABCB11):c.1608T>C (p.Asn536=)
|
rs1227759001
|
|
|
NM_003742.4(ABCB11):c.1857G>T (p.Thr619=)
|
rs760948323
|
|
|
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=)
|
rs200087122
|
|
|
NM_003742.4(ABCB11):c.2700G>A (p.Leu900=)
|
rs371263629
|
|
|
NM_003742.4(ABCB11):c.477+8G>T
|
rs745477056
|
|
|
NM_003742.4(ABCB11):c.585G>C (p.Val195=)
|
rs11568365
|
|
|
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys)
|
rs2287617
|
|
|
NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=)
|
rs41310410
|
|
|
NM_003748.4(ALDH4A1):c.1460+15C>T
|
rs371777923
|
|
|
NM_003764.4(STX11):c.221C>T (p.Thr74Met)
|
rs540150447
|
|
|
NM_003764.4(STX11):c.264C>T (p.Ser88=)
|
rs774895225
|
|
|
NM_003764.4(STX11):c.63C>T (p.Asp21=)
|
rs149176821
|
|
|
NM_003793.4(CTSF):c.160C>A (p.Arg54=)
|
rs776443007
|
|
|
NM_003835.4(RGS9):c.313_314delinsGG (p.Thr105Gly)
|
rs797044755
|
|
|
NM_003846.3(PEX11B):c.238G>A (p.Val80Ile)
|
rs587764801
|
|
|
NM_003859.3(DPM1):c.161+10C>T
|
rs779869066
|
|
|
NM_003859.3(DPM1):c.84G>A (p.Ser28=)
|
rs16995639
|
|
|
NM_003906.5(MCM3AP):c.3336-7C>T
|
|
|
|
NM_003919.3(SGCE):c.436T>A (p.Leu146Met)
|
rs752074255
|
|
|
NM_003922.4(HERC1):c.9273A>G (p.Glu3091=)
|
|
|
|
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)
|
rs764470906
|
|
|
NM_003982.4(SLC7A7):c.1095+6T>C
|
rs531862402
|
|
|
NM_003982.4(SLC7A7):c.1263G>A (p.Pro421=)
|
rs1043886041
|
|
|
NM_003982.4(SLC7A7):c.499+9G>C
|
rs893853391
|
|
|
NM_003982.4(SLC7A7):c.591G>A (p.Ala197=)
|
rs750720946
|
|
|
NM_003982.4(SLC7A7):c.931A>G (p.Ile311Val)
|
rs539843065
|
|
|
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser)
|
rs200928985
|
|
|
NM_004035.7(ACOX1):c.1479-12A>G
|
rs2065755060
|
|
|
NM_004035.7(ACOX1):c.1866C>A (p.Gly622=)
|
rs886053456
|
|
|
NM_004035.7(ACOX1):c.270-8C>G
|
rs751892262
|
|
|
NM_004036.5(ADCY3):c.2196G>A (p.Thr732=)
|
|
|
|
NM_004046.6(ATP5F1A):c.389T>C (p.Ile130Thr)
|
|
|
|
NM_004064.5(CDKN1B):c.326T>A (p.Val109Asp)
|
rs2066827
|
|
|
NM_004092.4(ECHS1):c.22C>T (p.Leu8=)
|
|
|
|
NM_004100.5(EYA4):c.899C>A (p.Ala300Asp)
|
rs757252384
|
|
|
NM_004136.4(IREB2):c.656A>C (p.Glu219Ala)
|
|
|
|
NM_004187.5(KDM5C):c.3088C>T (p.Arg1030Trp)
|
rs782388435
|
|
|
NM_004187.5(KDM5C):c.4338C>T (p.His1446=)
|
rs797044695
|
|
|
NM_004230.4(S1PR2):c.429C>T (p.Asp143=)
|
rs774990809
|
|
|
NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=)
|
rs748903681
|
|
|
NM_004273.5(CHST3):c.195C>T (p.Thr65=)
|
rs759935618
|
|
|
NM_004273.5(CHST3):c.306C>T (p.Gly102=)
|
rs776007496
|
|
|
NM_004281.4(BAG3):c.1554T>A (p.Asp518Glu)
|
rs139125612
|
|
|
NM_004287.5(GOSR2):c.363C>T (p.Asp121=)
|
rs886053078
|
|
|
NM_004304.5(ALK):c.1183C>T (p.Arg395Cys)
|
rs779282861
|
|
|
NM_004304.5(ALK):c.1890C>T (p.Ile630=)
|
rs1278070199
|
|
|
NM_004304.5(ALK):c.2073C>T (p.Ser691=)
|
rs370435082
|
|
|
NM_004304.5(ALK):c.2391G>A (p.Glu797=)
|
rs372037531
|
|
|
NM_004304.5(ALK):c.2901C>A (p.Thr967=)
|
rs886055930
|
|
|
NM_004304.5(ALK):c.3646-13T>C
|
rs2148159628
|
|
|
NM_004304.5(ALK):c.3939-5C>T
|
rs1573084845
|
|
|
NM_004304.5(ALK):c.510C>T (p.Leu170=)
|
rs886055933
|
|
|
NM_004304.5(ALK):c.615C>A (p.Ser205=)
|
rs567498111
|
|
|
NM_004304.5(ALK):c.660C>T (p.Phe220=)
|
rs1667944556
|
|
|
NM_004304.5(ALK):c.822G>A (p.Leu274=)
|
rs1265006535
|
|
|
NM_004341.5(CAD):c.1536C>T (p.Thr512=)
|
rs368889621
|
|
|
NM_004360.5(CDH1):c.1008+8G>T
|
rs990193541
|
|
|
NM_004360.5(CDH1):c.1083T>G (p.Ala361=)
|
|
|
|
NM_004360.5(CDH1):c.1137+9A>G
|
rs780705655
|
|
|
NM_004360.5(CDH1):c.1170C>T (p.Asn390=)
|
rs766505270
|
|
|
NM_004360.5(CDH1):c.1565+13A>G
|
rs1057522979
|
|
|
NM_004360.5(CDH1):c.1566-8C>G
|
rs587780114
|
|
|
NM_004360.5(CDH1):c.1572G>C (p.Arg524=)
|
rs771419468
|
|
|
NM_004360.5(CDH1):c.1680G>A (p.Thr560=)
|
rs35741240
|
|
|
NM_004360.5(CDH1):c.1712-8T>C
|
rs1060504172
|
|
|
NM_004360.5(CDH1):c.1716T>C (p.Ser572=)
|
rs876660176
|
|
|
NM_004360.5(CDH1):c.1767T>C (p.Asn589=)
|
rs763862527
|
|
|
NM_004360.5(CDH1):c.1887A>G (p.Glu629=)
|
rs886052236
|
|
|
NM_004360.5(CDH1):c.1917C>T (p.Thr639=)
|
rs1057522719
|
|
|
NM_004360.5(CDH1):c.1937-4C>T
|
rs1057523153
|
|
|
NM_004360.5(CDH1):c.2205G>A (p.Ala735=)
|
rs138493551
|
|
|
NM_004360.5(CDH1):c.2282_2284del (p.Gly761del)
|
rs878854683
|
|
|
NM_004360.5(CDH1):c.2286A>G (p.Glu762=)
|
rs1555517684
|
|
|
NM_004360.5(CDH1):c.2440-12CTT[2]
|
rs587782757
|
|
|
NM_004360.5(CDH1):c.249T>C (p.Ile83=)
|
rs878854687
|
|
|
NM_004360.5(CDH1):c.2544G>C (p.Leu848=)
|
rs2152144040
|
|
|
NM_004360.5(CDH1):c.2628C>T (p.Tyr876=)
|
rs778681919
|
|
|
NM_004360.5(CDH1):c.2640G>A (p.Glu880=)
|
rs864622218
|
|
|
NM_004360.5(CDH1):c.32TGC[6] (p.Leu15dup)
|
rs587782476
|
|
|
NM_004360.5(CDH1):c.375C>T (p.Pro125=)
|
rs773044699
|
|
|
NM_004360.5(CDH1):c.49-16C>G
|
rs1057517618
|
|
|
NM_004360.5(CDH1):c.49-9C>A
|
rs1555509752
|
|
|
NM_004360.5(CDH1):c.834A>G (p.Gly278=)
|
rs1597893922
|
|
|
NM_004360.5(CDH1):c.924T>C (p.Asp308=)
|
rs1555515629
|
|
|
NM_004369.4(COL6A3):c.1630C>T (p.Arg544Trp)
|
|
|
|
NM_004369.4(COL6A3):c.3982C>T (p.Leu1328=)
|
rs727503885
|
|
|
NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys)
|
|
|
|
NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln)
|
rs577784031
|
|
|
NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys)
|
rs574863380
|
|
|
NM_004370.6(COL12A1):c.4679G>A (p.Arg1560Gln)
|
|
|
|
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly)
|
rs762021815
|
|
|
NM_004370.6(COL12A1):c.6125C>T (p.Ser2042Leu)
|
|
|
|
NM_004370.6(COL12A1):c.634T>C (p.Tyr212His)
|
rs1424010902
|
|
|
NM_004371.4(COPA):c.3248G>A (p.Arg1083His)
|
rs141211632
|
|
|
NM_004380.3(CREBBP):c.283G>A (p.Val95Met)
|
rs756802946
|
|
|
NM_004385.5(VCAN):c.1458G>T (p.Ser486=)
|
rs150735474
|
|
|
NM_004403.3(GSDME):c.119dup (p.Lys41fs)
|
rs758488919
|
|
|
NM_004408.4(DNM1):c.1153C>T (p.Arg385Ter)
|
rs1835102166
|
|
|
NM_004415.4(DSP):c.1067C>T (p.Thr356Met)
|
rs780626687
|
|
|
NM_004415.4(DSP):c.178G>A (p.Gly60Ser)
|
rs982933033
|
|
|
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr)
|
rs1393048121
|
|
|
NM_004415.4(DSP):c.2932A>G (p.Ile978Val)
|
rs780823789
|
|
|
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro)
|
rs371234425
|
|
|
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys)
|
rs367763339
|
|
|
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)
|
rs876657795
|
|
|
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile)
|
rs138599871
|
|
|
NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly)
|
rs780953141
|
|
|
NM_004415.4(DSP):c.47G>C (p.Arg16Pro)
|
rs752387234
|
|
|
NM_004415.4(DSP):c.484C>G (p.Arg162Gly)
|
rs760711308
|
|
|
NM_004415.4(DSP):c.485G>A (p.Arg162His)
|
rs397516944
|
|
|
NM_004415.4(DSP):c.5064G>A (p.Ala1688=)
|
rs886061747
|
|
|
NM_004415.4(DSP):c.5391G>A (p.Arg1797=)
|
rs778745098
|
|
|
NM_004415.4(DSP):c.5544G>A (p.Arg1848=)
|
rs727503004
|
|
|
NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr)
|
rs771974957
|
|
|
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp)
|
rs374090050
|
|
|
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile)
|
rs746533703
|
|
|
NM_004415.4(DSP):c.6572G>A (p.Arg2191Lys)
|
rs527888978
|
|
|
NM_004415.4(DSP):c.685G>A (p.Gly229Ser)
|
rs376185352
|
|
|
NM_004415.4(DSP):c.694C>T (p.Arg232Cys)
|
rs777847026
|
|
|
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn)
|
rs199597935
|
|
|
NM_004415.4(DSP):c.8199G>A (p.Thr2733=)
|
rs145085696
|
|
|
NM_004453.4(ETFDH):c.1116+7C>T
|
rs748640706
|
|
|
NM_004453.4(ETFDH):c.1117-11T>C
|
rs917132143
|
|
|
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=)
|
rs1284823413
|
|
|
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=)
|
rs143873407
|
|
|
NM_004453.4(ETFDH):c.1469-8T>C
|
rs1774625470
|
|
|
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=)
|
rs533097197
|
|
|
NM_004453.4(ETFDH):c.606+10GTTTT[2]
|
rs745580994
|
|
|
NM_004519.4(KCNQ3):c.1809A>G (p.Pro603=)
|
rs886062691
|
|
|
NM_004519.4(KCNQ3):c.1995G>T (p.Ser665=)
|
rs759776061
|
|
|
NM_004525.3(LRP2):c.169G>T (p.Ala57Ser)
|
rs147295930
|
|
|
NM_004525.3(LRP2):c.3932G>A (p.Arg1311His)
|
rs140748929
|
|
|
NM_004525.3(LRP2):c.6470-4A>G
|
|
|
|
NM_004525.3(LRP2):c.770-4dup
|
|
|
|
NM_004560.4(ROR2):c.623-11G>A
|
rs1350375399
|
|
|
NM_004568.6(SERPINB6):c.441G>A (p.Ala147=)
|
rs201913568
|
|
|
NM_004606.5(TAF1):c.2945C>T (p.Pro982Leu)
|
|
|
|
NM_004612.4(TGFBR1):c.1131-8T>G
|
rs1827799094
|
|
|
NM_004612.4(TGFBR1):c.1387-4G>C
|
|
|
|
NM_004612.4(TGFBR1):c.574+7_574+8del
|
|
|
|
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=)
|
rs886063224
|
|
|
NM_004612.4(TGFBR1):c.97+15GGCG[4]
|
rs886063221
|
|
|
NM_004614.5(TK2):c.520G>C (p.Val174Leu)
|
rs149036717
|
|
|
NM_004614.5(TK2):c.55C>T (p.Pro19Ser)
|
rs551565600
|
|
|
NM_004618.5(TOP3A):c.1103A>G (p.Asn368Ser)
|
|
|
|
NM_004646.4(NPHS1):c.1913A>G (p.Tyr638Cys)
|
|
|
|
NM_004646.4(NPHS1):c.2072-5C>T
|
rs1973103431
|
|
|
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)
|
rs138173172
|
|
|
NM_004646.4(NPHS1):c.3456G>T (p.Thr1152=)
|
rs138092189
|
|
|
NM_004646.4(NPHS1):c.791C>A (p.Pro264Gln)
|
rs34982899
|
|
|
NM_004646.4(NPHS1):c.796G>A (p.Val266Met)
|
|
|
|
NM_004655.4(AXIN2):c.1347C>T (p.Thr449=)
|
rs762279806
|
|
|
NM_004655.4(AXIN2):c.1404CCA[7] (p.His474dup)
|
rs570443161
|
|
|
NM_004655.4(AXIN2):c.1443C>T (p.Leu481=)
|
rs886053272
|
|
|
NM_004655.4(AXIN2):c.1743C>T (p.Arg581=)
|
rs774932064
|
|
|
NM_004655.4(AXIN2):c.174C>T (p.Asn58=)
|
rs763012548
|
|
|
NM_004655.4(AXIN2):c.2124G>A (p.Ser708=)
|
rs143243661
|
|
|
NM_004655.4(AXIN2):c.2405+4A>C
|
rs377423720
|
|
|
NM_004655.4(AXIN2):c.629T>C (p.Met210Thr)
|
rs529954883
|
|
|
NM_004656.4(BAP1):c.1554G>T (p.Arg518=)
|
rs1705043802
|
|
|
NM_004656.4(BAP1):c.783+11T>C
|
rs1705153387
|
|
|
NM_004706.4(ARHGEF1):c.1094G>A (p.Ser365Asn)
|
rs199751095
|
|
|
NM_004714.3(DYRK1B):c.668C>T (p.Thr223Met)
|
|
|
|
NM_004715.5(CTDP1):c.1728GGA[6] (p.Glu582del)
|
rs3833180
|
|
|
NM_004715.5(CTDP1):c.2307C>T (p.Pro769=)
|
rs1403055370
|
|
|
NM_004817.4(TJP2):c.258C>T (p.Val86=)
|
rs530810462
|
|
|
NM_004817.4(TJP2):c.395C>G (p.Pro132Arg)
|
rs141496493
|
|
|
NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3])
|
rs760152519
|
|
|
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu)
|
rs537303950
|
|
|
NM_004820.5(CYP7B1):c.924T>G (p.Leu308=)
|
rs754533279
|
|
|
NM_004820.5(CYP7B1):c.957T>C (p.Arg319=)
|
rs886063073
|
|
|
NM_004820.5(CYP7B1):c.963A>G (p.Glu321=)
|
rs1045912447
|
|
|
NM_004826.4(ECEL1):c.2105G>T (p.Arg702Leu)
|
rs117012322
|
|
|
NM_004859.4(CLTC):c.88C>T (p.Leu30=)
|
|
|
|
NM_004937.3(CTNS):c.1029C>A (p.Ile343=)
|
rs147428183
|
|
|
NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu)
|
rs560868487
|
|
|
NM_004958.4(MTOR):c.1226A>T (p.Asp409Val)
|
|
|
|
NM_004958.4(MTOR):c.1713_1715del (p.Thr572del)
|
rs1228888866
|
|
|
NM_004958.4(MTOR):c.3238C>T (p.Arg1080Cys)
|
|
|
|
NM_004958.4(MTOR):c.4687-3T>C
|
rs760066667
|
|
|
NM_004958.4(MTOR):c.4770G>A (p.Met1590Ile)
|
rs1386078325
|
|
|
NM_004958.4(MTOR):c.5485_5505dup (p.Thr1829_Ala1835dup)
|
rs1643098054
|
|
|
NM_004958.4(MTOR):c.7017-4A>G
|
|
|
|
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr)
|
rs1984239884
|
|
|
NM_004975.4(KCNB1):c.2129G>A (p.Cys710Tyr)
|
|
|
|
NM_004977.3(KCNC3):c.1883C>T (p.Ala628Val)
|
|
|
|
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=)
|
rs1064797169
|
|
|
NM_004984.4(KIF5A):c.1362+7G>A
|
rs1349376862
|
|
|
NM_004984.4(KIF5A):c.1603C>T (p.Arg535Trp)
|
rs1055742325
|
|
|
NM_004984.4(KIF5A):c.1717-6C>T
|
rs61935711
|
|
|
NM_004984.4(KIF5A):c.2053A>G (p.Lys685Glu)
|
|
|
|
NM_004984.4(KIF5A):c.2065A>G (p.Thr689Ala)
|
|
|
|
NM_004984.4(KIF5A):c.2816G>A (p.Arg939Gln)
|
|
|
|
NM_004998.4(MYO1E):c.2627C>G (p.Thr876Arg)
|
rs147596471
|
|
|
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del)
|
rs727504743
|
|
|
NM_005045.4(RELN):c.1379A>C (p.Lys460Thr)
|
rs779530655
|
|
|
NM_005045.4(RELN):c.5360G>A (p.Arg1787Gln)
|
rs372887562
|
|
|
NM_005045.4(RELN):c.6976G>A (p.Asp2326Asn)
|
rs768054802
|
|
|
NM_005045.4(RELN):c.8077G>A (p.Gly2693Arg)
|
|
|
|
NM_005045.4(RELN):c.8213G>A (p.Arg2738Gln)
|
rs141115137
|
|
|
NM_005045.4(RELN):c.9628C>G (p.Gln3210Glu)
|
|
|
|
NM_005045.4(RELN):c.9730G>C (p.Gly3244Arg)
|
rs73714410
|
|
|
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)
|
rs200761248
|
|
|
NM_005076.5(CNTN2):c.1975+10A>G
|
rs773175563
|
|
|
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup)
|
rs786200971
|
|
|
NM_005142.3(CBLIF):c.138G>A (p.Ser46=)
|
rs200472519
|
|
|
NM_005148.4(UNC119):c.231C>T (p.Cys77=)
|
rs1037207765
|
|
|
NM_005157.6(ABL1):c.1543G>A (p.Val515Ile)
|
|
|
|
NM_005157.6(ABL1):c.3067G>A (p.Ala1023Thr)
|
|
|
|
NM_005186.4(CAPN1):c.1943-4C>A
|
rs377259262
|
|
|
NM_005198.5(CHKB):c.447+12G>A
|
rs749454476
|
|
|
NM_005199.5(CHRNG):c.734TCA[1] (p.Ile246del)
|
rs747062636
|
|
|
NM_005228.5(EGFR):c.2652A>G (p.Glu884=)
|
rs1787457978
|
|
|
NM_005245.4(FAT1):c.10424C>G (p.Pro3475Arg)
|
|
|
|
NM_005245.4(FAT1):c.12421C>G (p.Leu4141Val)
|
|
|
|
NM_005245.4(FAT1):c.4434C>G (p.Ile1478Met)
|
|
|
|
NM_005245.4(FAT1):c.675G>A (p.Ala225=)
|
|
|
|
NM_005245.4(FAT1):c.8524G>A (p.Gly2842Ser)
|
|
|
|
NM_005247.4(FGF3):c.484C>A (p.Arg162=)
|
|
|
|
NM_005249.5(FOXG1):c.1123G>A (p.Ala375Thr)
|
rs1594384127
|
|
|
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del)
|
rs587783634
|
|
|
NM_005262.3(GFER):c.216G>A (p.Arg72=)
|
rs755279097
|
|
|
NM_005262.3(GFER):c.591C>G (p.Asp197Glu)
|
rs28738719
|
|
|
NM_005271.5(GLUD1):c.1557+12G>A
|
rs201872390
|
|
|
NM_005276.4(GPD1):c.361G>A (p.Gly121Arg)
|
rs35428353
|
|
|
NM_005276.4(GPD1):c.380A>G (p.Asn127Ser)
|
rs111241046
|
|
|
NM_005327.7(HADH):c.264C>T (p.Ala88=)
|
rs201324954
|
|
|
NM_005327.7(HADH):c.291G>T (p.Leu97=)
|
rs552317372
|
|
|
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
|
|
|
|
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
|
|
|
|
NM_005337.5(NCKAP1L):c.455G>A (p.Arg152Gln)
|
|
|
|
NM_005343.4(HRAS):c.386A>G (p.Gln129Arg)
|
rs1851242529
|
|
|
NM_005422.4(TECTA):c.336T>C (p.Tyr112=)
|
rs886043412
|
|
|
NM_005422.4(TECTA):c.3451G>A (p.Asp1151Asn)
|
|
|
|
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu)
|
rs148619105
|
|
|
NM_005422.4(TECTA):c.4009G>A (p.Ala1337Thr)
|
|
|
|
NM_005422.4(TECTA):c.4021G>A (p.Ala1341Thr)
|
|
|
|
NM_005422.4(TECTA):c.4578G>A (p.Gln1526=)
|
|
|
|
NM_005458.8(GABBR2):c.23G>A (p.Gly8Glu)
|
rs950352036
|
|
|
NM_005458.8(GABBR2):c.2737A>G (p.Ser913Gly)
|
rs1830289381
|
|
|
NM_005458.8(GABBR2):c.33GCC[7] (p.Pro20dup)
|
rs751111546
|
|
|
NM_005458.8(GABBR2):c.422T>C (p.Ile141Thr)
|
rs1588236381
|
|
|
NM_005458.8(GABBR2):c.58C>T (p.Pro20Ser)
|
rs1430262254
|
|
|
NM_005476.7(GNE):c.1660C>T (p.His554Tyr)
|
|
|
|
NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe)
|
rs775803239
|
|
|
NM_005502.4(ABCA1):c.1312-16C>T
|
|
|
|
NM_005502.4(ABCA1):c.3554A>G (p.Asn1185Ser)
|
rs148328750
|
|
|
NM_005502.4(ABCA1):c.357C>A (p.Asp119Glu)
|
rs763744498
|
|
|
NM_005502.4(ABCA1):c.4559+12C>T
|
|
|
|
NM_005502.4(ABCA1):c.5800G>A (p.Val1934Met)
|
|
|
|
NM_005502.4(ABCA1):c.6309-4G>A
|
rs199562704
|
|
|
NM_005502.4(ABCA1):c.6588G>C (p.Gln2196His)
|
|
|
|
NM_005502.4(ABCA1):c.6701C>T (p.Ser2234Leu)
|
|
|
|
NM_005502.4(ABCA1):c.749C>T (p.Pro250Leu)
|
|
|
|
NM_005515.4(MNX1):c.375CGC[7] (p.Ala133_Ala134del)
|
rs548755417
|
|
|
NM_005515.4(MNX1):c.576GCACCCCGC[1] (p.193HPA[1])
|
rs528990697
|
|
|
NM_005518.4(HMGCS2):c.621C>T (p.Pro207=)
|
rs886045207
|
|
|
NM_005529.7(HSPG2):c.10151-4G>A
|
|
|
|
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met)
|
rs150666616
|
|
|
NM_005529.7(HSPG2):c.11983T>C (p.Leu3995=)
|
|
|
|
NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu)
|
rs143015575
|
|
|
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)
|
rs113652076
|
|
|
NM_005529.7(HSPG2):c.5925G>A (p.Leu1975=)
|
|
|
|
NM_005529.7(HSPG2):c.6134-4C>T
|
|
|
|
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=)
|
rs150129885
|
|
|
NM_005529.7(HSPG2):c.744_745inv (p.Val249Met)
|
|
|
|
NM_005529.7(HSPG2):c.8609G>A (p.Arg2870Gln)
|
rs111846397
|
|
|
NM_005529.7(HSPG2):c.9120C>T (p.Ser3040=)
|
|
|
|
NM_005535.3(IL12RB1):c.1461T>C (p.Asp487=)
|
rs542734526
|
|
|
NM_005535.3(IL12RB1):c.1650C>T (p.Phe550=)
|
rs2034193297
|
|
|
NM_005535.3(IL12RB1):c.732G>T (p.Ser244=)
|
rs145487261
|
|
|
NM_005546.4(ITK):c.150G>A (p.Thr50=)
|
rs61743239
|
|
|
NM_005546.4(ITK):c.396C>T (p.Cys132=)
|
rs1459993484
|
|
|
NM_005557.4(KRT16):c.769G>A (p.Glu257Lys)
|
|
|
|
NM_005559.4(LAMA1):c.6200C>G (p.Ala2067Gly)
|
rs143853128
|
|
|
NM_005559.4(LAMA1):c.7213G>A (p.Asp2405Asn)
|
|
|
|
NM_005560.6(LAMA5):c.10735-3_10735-2insCCCTTCCTACCCCT
|
rs762469320
|
|
|
NM_005560.6(LAMA5):c.10744C>T (p.Arg3582Trp)
|
|
|
|
NM_005560.6(LAMA5):c.2659C>T (p.His887Tyr)
|
|
|
|
NM_005560.6(LAMA5):c.6476G>C (p.Gly2159Ala)
|
|
|
|
NM_005560.6(LAMA5):c.7211G>A (p.Arg2404His)
|
rs144740011
|
|
|
NM_005566.4(LDHA):c.843C>T (p.Tyr281=)
|
|
|
|
NM_005591.4(MRE11):c.154-11C>G
|
rs751354326
|
|
|
NM_005591.4(MRE11):c.1545A>G (p.Glu515=)
|
rs886048759
|
|
|
NM_005591.4(MRE11):c.1868-4C>A
|
rs768257868
|
|
|
NM_005591.4(MRE11):c.1868-5T>C
|
rs773911334
|
|
|
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile)
|
|
|
|
NM_005609.4(PYGM):c.1769-7T>C
|
rs2058357396
|
|
|
NM_005609.4(PYGM):c.177C>T (p.Thr59=)
|
rs753355735
|
|
|
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg)
|
rs141265458
|
|
|
NM_005609.4(PYGM):c.537G>A (p.Glu179=)
|
rs886048462
|
|
|
NM_005609.4(PYGM):c.999+9C>T
|
rs183026465
|
|
|
NM_005619.5(RTN2):c.1381-5C>T
|
|
|
|
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=)
|
rs1603216989
|
|
|
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)
|
rs398124211
|
|
|
NM_005677.4(COLQ):c.718-9C>T
|
rs756975517
|
|
|
NM_005708.5(GPC6):c.1152+9T>A
|
rs794727797
|
|
|
NM_005732.4(RAD50):c.1453-4C>G
|
rs747751038
|
|
|
NM_005732.4(RAD50):c.1677C>G (p.His559Gln)
|
rs142619269
|
|
|
NM_005732.4(RAD50):c.1794-5T>G
|
rs1554098579
|
|
|
NM_005732.4(RAD50):c.214-5C>G
|
rs534966725
|
|
|
NM_005732.4(RAD50):c.2398-6_2398-4del
|
rs1750932790
|
|
|
NM_005732.4(RAD50):c.2719-4T>A
|
rs1474922117
|
|
|
NM_005732.4(RAD50):c.757-4T>C
|
rs1554098154
|
|
|
NM_005739.4(RASGRP1):c.849+8A>G
|
|
|
|
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile)
|
rs543634397
|
|
|
NM_005765.3(ATP6AP2):c.225C>T (p.Thr75=)
|
|
|
|
NM_005802.5(TOPORS):c.1953C>T (p.Ser651=)
|
rs727504178
|
|
|
NM_005850.5(SF3B4):c.1058C>A (p.Pro353His)
|
rs782461594
|
|
|
NM_005883.3(APC2):c.4957C>G (p.Arg1653Gly)
|
|
|
|
NM_005883.3(APC2):c.6551G>C (p.Arg2184Pro)
|
|
|
|
NM_005902.4(SMAD3):c.401-11C>A
|
rs1962548669
|
|
|
NM_005902.4(SMAD3):c.659-12del
|
|
|
|
NM_005908.4(MANBA):c.1953G>A (p.Thr651=)
|
rs886058968
|
|
|
NM_005908.4(MANBA):c.2269T>C (p.Leu757=)
|
rs774068992
|
|
|
NM_005908.4(MANBA):c.2358C>T (p.Asn786=)
|
rs767182713
|
|
|
NM_005957.5(MTHFR):c.469C>A (p.Arg157=)
|
rs776195746
|
|
|
NM_006005.3(WFS1):c.1134C>G (p.Thr378=)
|
rs71530904
|
|
|
NM_006005.3(WFS1):c.132C>T (p.Pro44=)
|
rs754346893
|
|
|
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr)
|
rs111773340
|
|
|
NM_006005.3(WFS1):c.1653C>A (p.Ser551=)
|
rs766730980
|
|
|
NM_006005.3(WFS1):c.1681A>G (p.Ile561Val)
|
rs766673431
|
|
|
NM_006005.3(WFS1):c.2027G>A (p.Arg676His)
|
rs143055296
|
|
|
NM_006005.3(WFS1):c.2369C>T (p.Ser790Leu)
|
rs369107336
|
|
|
NM_006005.3(WFS1):c.2370G>C (p.Ser790=)
|
rs150936382
|
|
|
NM_006005.3(WFS1):c.2385G>A (p.Glu795=)
|
rs373310972
|
|
|
NM_006005.3(WFS1):c.2406C>G (p.Ile802Met)
|
rs201102144
|
|
|
NM_006005.3(WFS1):c.2432A>G (p.Lys811Arg)
|
rs557048986
|
|
|
NM_006005.3(WFS1):c.2466C>T (p.Leu822=)
|
rs141669724
|
|
|
NM_006005.3(WFS1):c.2481C>T (p.Thr827=)
|
rs886059532
|
|
|
NM_006005.3(WFS1):c.2514T>C (p.Pro838=)
|
rs773643250
|
|
|
NM_006005.3(WFS1):c.2580C>T (p.His860=)
|
rs754802246
|
|
|
NM_006005.3(WFS1):c.468G>T (p.Thr156=)
|
rs201145164
|
|
|
NM_006005.3(WFS1):c.654C>T (p.Pro218=)
|
rs727504666
|
|
|
NM_006005.3(WFS1):c.672G>A (p.Gln224=)
|
rs1224486316
|
|
|
NM_006009.4(TUBA1A):c.276T>C (p.Leu92=)
|
rs1065671
|
|
|
NM_006015.6(ARID1A):c.1029_1040dup (p.Ala349_Ser350insAlaAlaAlaAla)
|
|
|
|
NM_006015.6(ARID1A):c.1753CAG[1] (p.Gln586del)
|
rs777762320
|
|
|
NM_006015.6(ARID1A):c.1883T>C (p.Met628Thr)
|
|
|
|
NM_006015.6(ARID1A):c.2109C>A (p.Pro703=)
|
|
|
|
NM_006015.6(ARID1A):c.249CGG[5] (p.Gly87_Ala88insGly)
|
|
|
|
NM_006015.6(ARID1A):c.3426G>T (p.Gln1142His)
|
rs2124103896
|
|
|
NM_006015.6(ARID1A):c.4114C>T (p.Pro1372Ser)
|
|
|
|
NM_006015.6(ARID1A):c.6652A>T (p.Met2218Leu)
|
|
|
|
NM_006015.6(ARID1A):c.945C>T (p.Asp315=)
|
|
|
|
NM_006017.3(PROM1):c.2514-4A>G
|
rs1236769724
|
|
|
NM_006019.4(TCIRG1):c.1623G>A (p.Leu541=)
|
rs534950651
|
|
|
NM_006019.4(TCIRG1):c.1755G>T (p.Val585=)
|
rs1554999033
|
|
|
NM_006019.4(TCIRG1):c.1836C>T (p.Asn612=)
|
rs886042823
|
|
|
NM_006031.6(PCNT):c.2154+7C>T
|
rs376236418
|
|
|
NM_006031.6(PCNT):c.24G>C (p.Arg8=)
|
rs375279759
|
|
|
NM_006031.6(PCNT):c.2628A>G (p.Lys876=)
|
rs758820636
|
|
|
NM_006031.6(PCNT):c.268-5_268-3del
|
rs751683541
|
|
|
NM_006031.6(PCNT):c.3441C>T (p.Asp1147=)
|
rs201652457
|
|
|
NM_006031.6(PCNT):c.4003+10A>G
|
|
|
|
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=)
|
rs151138182
|
|
|
NM_006031.6(PCNT):c.5792G>T (p.Arg1931Leu)
|
rs776640595
|
|
|
NM_006031.6(PCNT):c.720+10C>T
|
|
|
|
NM_006031.6(PCNT):c.7977G>T (p.Gln2659His)
|
rs2070426
|
|
|
NM_006031.6(PCNT):c.9393+8C>T
|
rs750108017
|
|
|
NM_006059.4(LAMC3):c.1939G>C (p.Gly647Arg)
|
rs144242690
|
|
|
NM_006059.4(LAMC3):c.3069+8G>T
|
rs563444562
|
|
|
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln)
|
rs146221263
|
|
|
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys)
|
rs140955110
|
|
|
NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser)
|
rs147092908
|
|
|
NM_006059.4(LAMC3):c.42_50dup (p.Pro15_Ala17dup)
|
rs1057520165
|
|
|
NM_006096.4(NDRG1):c.306C>A (p.Gly102=)
|
rs2233322
|
|
|
NM_006096.4(NDRG1):c.666C>A (p.Gly222=)
|
rs1432095364
|
|
|
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile)
|
rs377331781
|
|
|
NM_006147.4(IRF6):c.1259G>A (p.Arg420His)
|
|
|
|
NM_006180.6(NTRK2):c.1195+7A>T
|
rs949522665
|
|
|
NM_006180.6(NTRK2):c.1937+8G>A
|
|
|
|
NM_006182.4(DDR2):c.243T>A (p.Asp81Glu)
|
rs138537887
|
|
|
NM_006204.4(PDE6C):c.2208+13_2208+17del
|
rs886047483
|
|
|
NM_006206.6(PDGFRA):c.1596G>C (p.Leu532=)
|
rs1723603076
|
|
|
NM_006206.6(PDGFRA):c.1821G>C (p.Val607=)
|
rs886059446
|
|
|
NM_006206.6(PDGFRA):c.2040A>C (p.Gly680=)
|
rs773679384
|
|
|
NM_006206.6(PDGFRA):c.219T>C (p.Asn73=)
|
rs886059443
|
|
|
NM_006206.6(PDGFRA):c.2574C>A (p.Pro858=)
|
rs771421611
|
|
|
NM_006206.6(PDGFRA):c.3195G>A (p.Glu1065=)
|
rs1724822643
|
|
|
NM_006206.6(PDGFRA):c.480C>T (p.Thr160=)
|
rs1461385164
|
|
|
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His)
|
rs144099489
|
|
|
NM_006208.3(ENPP1):c.313+8_313+9insTT
|
rs879243445
|
|
|
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGT
|
rs879243445
|
|
|
NM_006208.3(ENPP1):c.313+9GT[16]
|
rs59956343
|
|
|
NM_006208.3(ENPP1):c.313+9GT[17]
|
rs59956343
|
|
|
NM_006231.4(POLE):c.1021-20C>G
|
rs1064796140
|
|
|
NM_006231.4(POLE):c.1145G>A (p.Ser382Asn)
|
rs761600715
|
|
|
NM_006231.4(POLE):c.1242C>T (p.Asp414=)
|
rs775213170
|
|
|
NM_006231.4(POLE):c.1257G>A (p.Val419=)
|
rs1565973352
|
|
|
NM_006231.4(POLE):c.1360-6C>A
|
rs139836643
|
|
|
NM_006231.4(POLE):c.1781C>T (p.Thr594Ile)
|
rs574033788
|
|
|
NM_006231.4(POLE):c.2085C>T (p.Phe695=)
|
rs1060500837
|
|
|
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala)
|
rs5744800
|
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
|
NM_006231.4(POLE):c.2292G>A (p.Arg764=)
|
rs1555227097
|
|
|
NM_006231.4(POLE):c.2469-5C>T
|
rs1565961371
|
|
|
NM_006231.4(POLE):c.2575C>T (p.Leu859=)
|
rs1565960909
|
|
|
NM_006231.4(POLE):c.2727G>A (p.Gln909=)
|
rs1555226055
|
|
|
NM_006231.4(POLE):c.2784C>T (p.Ser928=)
|
rs1011427549
|
|
|
NM_006231.4(POLE):c.286-8_286-7del
|
rs2043139110
|
|
|
NM_006231.4(POLE):c.3583-9T>G
|
rs1218288858
|
|
|
NM_006231.4(POLE):c.4461C>T (p.Ile1487=)
|
rs536917758
|
|
|
NM_006231.4(POLE):c.4551+10G>A
|
rs1565938933
|
|
|
NM_006231.4(POLE):c.4587G>A (p.Leu1529=)
|
rs1565938547
|
|
|
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala)
|
rs147500308
|
|
|
NM_006231.4(POLE):c.4680C>T (p.Asp1560=)
|
rs774425403
|
|
|
NM_006231.4(POLE):c.4731G>A (p.Glu1577=)
|
rs772361606
|
|
|
NM_006231.4(POLE):c.4953-5T>C
|
rs757060708
|
|
|
NM_006231.4(POLE):c.5379-15C>T
|
rs2138511721
|
|
|
NM_006231.4(POLE):c.5502C>T (p.Asp1834=)
|
rs1555221903
|
|
|
NM_006231.4(POLE):c.579-3T>C
|
rs1593082215
|
|
|
NM_006231.4(POLE):c.602T>C (p.Ile201Thr)
|
rs375209004
|
|
|
NM_006231.4(POLE):c.6192C>T (p.Phe2064=)
|
rs1555220905
|
|
|
NM_006231.4(POLE):c.6279C>T (p.Ser2093=)
|
rs1262321199
|
|
|
NM_006231.4(POLE):c.6498C>T (p.Asp2166=)
|
rs946547049
|
|
|
NM_006261.5(PROP1):c.592T>C (p.Leu198=)
|
rs780774091
|
|
|
NM_006261.5(PROP1):c.636T>C (p.Pro212=)
|
rs759632048
|
|
|
NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn)
|
rs112835359
|
|
|
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=)
|
rs186510389
|
|
|
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=)
|
rs782763816
|
|
|
NM_006308.3(HSPB3):c.347G>C (p.Arg116Pro)
|
rs150931007
|
|
|
NM_006343.3(MERTK):c.1137T>G (p.Thr379=)
|
rs1558793454
|
|
|
NM_006343.3(MERTK):c.1961-4dup
|
rs772574056
|
|
|
NM_006348.5(COG5):c.948+12A>T
|
rs763696416
|
|
|
NM_006361.6(HOXB13):c.159G>T (p.Leu53=)
|
rs1265294177
|
|
|
NM_006361.6(HOXB13):c.216G>T (p.Gly72=)
|
rs769145488
|
|
|
NM_006361.6(HOXB13):c.303C>T (p.Ala101=)
|
|
|
|
NM_006361.6(HOXB13):c.601+7C>G
|
rs752322954
|
|
|
NM_006361.6(HOXB13):c.64G>A (p.Gly22Arg)
|
rs539706443
|
|
|
NM_006371.5(CRTAP):c.930C>T (p.Asp310=)
|
rs762039541
|
|
|
NM_006397.3(RNASEH2A):c.550-13G>A
|
rs560268310
|
|
|
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala)
|
rs119482084
|
|
|
NM_006415.4(SPTLC1):c.1329-9T>C
|
rs778388513
|
|
|
NM_006420.3(ARFGEF2):c.3177G>T (p.Ser1059=)
|
rs61748373
|
|
|
NM_006432.5(NPC2):c.165C>T (p.Tyr55=)
|
rs2086712268
|
|
|
NM_006445.4(PRPF8):c.5001C>T (p.Arg1667=)
|
rs794727562
|
|
|
NM_006445.4(PRPF8):c.5943G>C (p.Val1981=)
|
rs758937794
|
|
|
NM_006486.3(FBLN1):c.279G>T (p.Thr93=)
|
rs765918593
|
|
|
NM_006493.4(CLN5):c.162G>A (p.Pro54=)
|
rs754303449
|
|
|
NM_006506.5(RASA2):c.133+9G>A
|
rs1353085625
|
|
|
NM_006516.4(SLC2A1):c.1023C>G (p.Leu341=)
|
rs143588685
|
|
|
NM_006516.4(SLC2A1):c.1215C>T (p.Ala405=)
|
rs769506294
|
|
|
NM_006516.4(SLC2A1):c.1467T>C (p.Asp489=)
|
rs1181822928
|
|
|
NM_006516.4(SLC2A1):c.679+4C>T
|
rs139492241
|
|
|
NM_006516.4(SLC2A1):c.726G>A (p.Gln242=)
|
rs1570592618
|
|
|
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6])
|
rs757881983
|
|
|
NM_006563.5(KLF1):c.978G>A (p.Leu326=)
|
|
|
|
NM_006623.4(PHGDH):c.1078+10G>T
|
rs374994783
|
|
|
NM_006623.4(PHGDH):c.1158G>A (p.Ala386=)
|
rs144484007
|
|
|
NM_006623.4(PHGDH):c.381G>A (p.Ser127=)
|
rs886045205
|
|
|
NM_006623.4(PHGDH):c.543G>A (p.Glu181=)
|
rs886045206
|
|
|
NM_006642.5(SDCCAG8):c.306+11A>G
|
rs781456866
|
|
|
NM_006662.3(SRCAP):c.5838C>A (p.Pro1946=)
|
rs1276291921
|
|
|
NM_006662.3(SRCAP):c.6297+17C>T
|
|
|
|
NM_006662.3(SRCAP):c.6576G>A (p.Glu2192=)
|
rs886044120
|
|
|
NM_006734.4(HIVEP2):c.3119C>A (p.Pro1040Gln)
|
|
|
|
NM_006734.4(HIVEP2):c.4861G>A (p.Asp1621Asn)
|
|
|
|
NM_006734.4(HIVEP2):c.6601C>T (p.Leu2201Phe)
|
|
|
|
NM_006766.5(KAT6A):c.2599C>T (p.Arg867Cys)
|
|
|
|
NM_006766.5(KAT6A):c.2806C>A (p.Pro936Thr)
|
rs367785766
|
|
|
NM_006766.5(KAT6A):c.2849A>G (p.Gln950Arg)
|
|
|
|
NM_006766.5(KAT6A):c.2869G>C (p.Ala957Pro)
|
rs374802138
|
|
|
NM_006766.5(KAT6A):c.3086A>G (p.His1029Arg)
|
|
|
|
NM_006766.5(KAT6A):c.3327A>T (p.Glu1109Asp)
|
|
|
|
NM_006766.5(KAT6A):c.3353-4A>G
|
rs762302738
|
|
|
NM_006766.5(KAT6A):c.4529C>T (p.Thr1510Ile)
|
rs1281540872
|
|
|
NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup)
|
rs750049486
|
|
|
NM_006766.5(KAT6A):c.5195A>G (p.Tyr1732Cys)
|
|
|
|
NM_006766.5(KAT6A):c.5600C>T (p.Ala1867Val)
|
|
|
|
NM_006766.5(KAT6A):c.5629C>T (p.Arg1877Cys)
|
|
|
|
NM_006766.5(KAT6A):c.571G>T (p.Val191Leu)
|
rs1057523324
|
|
|
NM_006767.4(LZTR1):c.1314G>A (p.Glu438=)
|
|
|
|
NM_006767.4(LZTR1):c.1616-4del
|
|
|
|
NM_006767.4(LZTR1):c.2070-15G>A
|
rs1601722962
|
|
|
NM_006767.4(LZTR1):c.2326-10G>A
|
rs778909787
|
|
|
NM_006767.4(LZTR1):c.2326-11T>G
|
rs1421950903
|
|
|
NM_006767.4(LZTR1):c.384C>T (p.Ser128=)
|
|
|
|
NM_006772.3(SYNGAP1):c.2206C>T (p.Arg736Cys)
|
rs1202720979
|
|
|
NM_006772.3(SYNGAP1):c.3121C>T (p.Pro1041Ser)
|
rs1561789701
|
|
|
NM_006772.3(SYNGAP1):c.3348GGGCAGCGG[3] (p.1118SGG[3])
|
rs761763671
|
|
|
NM_006772.3(SYNGAP1):c.3661C>T (p.Arg1221Trp)
|
rs2151199464
|
|
|
NM_006772.3(SYNGAP1):c.4003G>A (p.Gly1335Ser)
|
rs1761351808
|
|
|
NM_006772.3(SYNGAP1):c.509+5A>C
|
rs780314191
|
|
|
NM_006785.4(MALT1):c.1401-15G>T
|
rs371051170
|
|
|
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser)
|
rs114194130
|
|
|
NM_006796.3(AFG3L2):c.1167C>T (p.Val389=)
|
rs1282576516
|
|
|
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)
|
rs117182113
|
|
|
NM_006796.3(AFG3L2):c.867C>T (p.Phe289=)
|
|
|
|
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly)
|
rs773069554
|
|
|
NM_006892.4(DNMT3B):c.921+13G>A
|
rs1979990258
|
|
|
NM_006899.5(IDH3B):c.522G>T (p.Leu174=)
|
rs778097475
|
|
|
NM_006899.5(IDH3B):c.665+8G>T
|
rs1555781271
|
|
|
NM_006907.4(PYCR1):c.321G>A (p.Lys107=)
|
|
|
|
NM_006922.4(SCN3A):c.4983G>C (p.Leu1661=)
|
rs1018125027
|
|
|
NM_006922.4(SCN3A):c.5172C>T (p.Pro1724=)
|
rs370428859
|
|
|
NM_006939.4(SOS2):c.3772T>G (p.Ser1258Ala)
|
rs1344396759
|
|
|
NM_006941.4(SOX10):c.932G>A (p.Ser311Asn)
|
|
|
|
NM_006946.4(SPTBN2):c.5681G>A (p.Gly1894Glu)
|
rs148293687
|
|
|
NM_006946.4(SPTBN2):c.6284G>A (p.Arg2095Gln)
|
|
|
|
NM_006946.4(SPTBN2):c.6502-5C>A
|
|
|
|
NM_006946.4(SPTBN2):c.6754C>T (p.Arg2252Cys)
|
|
|
|
NM_006946.4(SPTBN2):c.753C>A (p.Thr251=)
|
|
|
|
NM_006947.4(SRP72):c.1089A>G (p.Glu363=)
|
|
|
|
NM_006947.4(SRP72):c.1321-4_1321-3del
|
rs1259551381
|
|
|
NM_006947.4(SRP72):c.1408C>T (p.Leu470=)
|
|
|
|
NM_006949.4(STXBP2):c.1134G>A (p.Glu378=)
|
rs755758613
|
|
|
NM_006949.4(STXBP2):c.1538+12G>C
|
|
|
|
NM_006949.4(STXBP2):c.1586G>A (p.Arg529Gln)
|
rs35490401
|
|
|
NM_006950.3(SYN1):c.1982+10C>A
|
rs752321936
|
|
|
NM_006982.3(ALX1):c.190C>T (p.Arg64Cys)
|
rs145944049
|
|
|
NM_006996.3(SLC19A2):c.42G>A (p.Ala14=)
|
|
|
|
NM_007055.4(POLR3A):c.1771-5C>G
|
rs199733994
|
|
|
NM_007055.4(POLR3A):c.1771-7C>A
|
rs201314157
|
|
|
NM_007175.8(ERLIN2):c.299-4_299-3del
|
rs778852699
|
|
|
NM_007194.4(CHEK2):c.593-11_593-7del
|
rs863224414
|
|
|
NM_007194.4(CHEK2):c.593-14C>G
|
rs145754558
|
|
|
NM_007194.4(CHEK2):c.593-15T>A
|
rs757717459
|
|
|
NM_007194.4(CHEK2):c.847-6T>G
|
rs1555917050
|
|
|
NM_007215.4(POLG2):c.39C>G (p.Val13=)
|
rs969072131
|
|
|
NM_007215.4(POLG2):c.417A>G (p.Leu139=)
|
rs1555669550
|
|
|
NM_007259.5(VPS45):c.702C>T (p.Ala234=)
|
rs782301145
|
|
|
NM_007272.3(CTRC):c.642G>A (p.Gly214=)
|
rs1265655451
|
|
|
NM_007272.3(CTRC):c.737G>T (p.Arg246Leu)
|
rs147925927
|
|
|
NM_007272.3(CTRC):c.788A>G (p.Asn263Ser)
|
rs769975164
|
|
|
NM_007294.4(BRCA1):c.135-5T>C
|
rs587781916
|
|
|
NM_007294.4(BRCA1):c.1601A>G (p.Gln534Arg)
|
rs80357173
|
|
|
NM_007294.4(BRCA1):c.2619A>T (p.Ser873=)
|
rs1597868763
|
|
|
NM_007294.4(BRCA1):c.4733A>G (p.Asp1578Gly)
|
rs80356930
|
|
|
NM_007294.4(BRCA1):c.4860T>C (p.Thr1620=)
|
rs750938749
|
|
|
NM_007294.4(BRCA1):c.4935G>C (p.Arg1645Ser)
|
rs80357373
|
|
|
NM_007294.4(BRCA1):c.5211A>G (p.Arg1737=)
|
rs1555576963
|
|
|
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys)
|
rs397509257
|
|
|
NM_007294.4(BRCA1):c.5468-12C>T
|
rs751653743
|
|
|
NM_007317.3(KIF22):c.1137G>C (p.Gln379His)
|
|
|
|
NM_007317.3(KIF22):c.576G>A (p.Ser192=)
|
rs11545431
|
|
|
NM_007325.5(GRIA3):c.162C>T (p.Ala54=)
|
rs758158942
|
|
|
NM_007325.5(GRIA3):c.425G>A (p.Arg142His)
|
|
|
|
NM_007325.5(GRIA3):c.43G>A (p.Val15Ile)
|
|
|
|
NM_007347.5(AP4E1):c.1694C>A (p.Ala565Glu)
|
rs142762839
|
|
|
NM_007374.3(SIX6):c.18C>A (p.Ile6=)
|
rs150715226
|
|
|
NM_007374.3(SIX6):c.573-6C>G
|
rs770759922
|
|
|
NM_012062.5(DNM1L):c.457-10_457-7del
|
rs769118365
|
|
|
NM_012079.6(DGAT1):c.820C>A (p.Arg274=)
|
rs199537660
|
|
|
NM_012114.3(CASP14):c.462_463del (p.Asp154fs)
|
rs769277893
|
|
|
NM_012144.4(DNAI1):c.1265_1267del (p.Phe422del)
|
rs567346433
|
|
|
NM_012144.4(DNAI1):c.1599C>A (p.Leu533=)
|
rs150785761
|
|
|
NM_012213.3(MLYCD):c.1424A>G (p.Lys475Arg)
|
rs200413924
|
|
|
NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln)
|
rs146465073
|
|
|
NM_012213.3(MLYCD):c.984G>T (p.Leu328=)
|
rs765416276
|
|
|
NM_012233.3(RAB3GAP1):c.18+4A>G
|
rs550325115
|
|
|
NM_012233.3(RAB3GAP1):c.2800C>T (p.Pro934Ser)
|
rs77535003
|
|
|
NM_012243.3(SLC35A3):c.516A>G (p.Gln172=)
|
rs1282648211
|
|
|
NM_012243.3(SLC35A3):c.888-10T>A
|
rs750539187
|
|
|
NM_012254.3(SLC27A5):c.309G>A (p.Lys103=)
|
rs956885811
|
|
|
NM_012254.3(SLC27A5):c.813G>T (p.Ala271=)
|
rs559467414
|
|
|
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=)
|
rs372195490
|
|
|
NM_012434.5(SLC17A5):c.1278G>T (p.Leu426=)
|
rs1167569087
|
|
|
NM_012448.4(STAT5B):c.90G>A (p.Val30=)
|
rs2144296728
|
|
|
NM_012469.4(PRPF6):c.2431+15_2431+36dup
|
rs771425756
|
|
|
NM_012470.4(TNPO3):c.1105A>G (p.Ile369Val)
|
|
|
|
NM_012470.4(TNPO3):c.831G>C (p.Glu277Asp)
|
|
|
|
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu)
|
rs141945265
|
|
|
NM_013247.5(HTRA2):c.825T>C (p.Val275=)
|
rs777650346
|
|
|
NM_013254.4(TBK1):c.2139-7G>A
|
rs534404556
|
|
|
NM_013254.4(TBK1):c.813-7A>C
|
rs376075252
|
|
|
NM_013275.6(ANKRD11):c.6115G>A (p.Asp2039Asn)
|
|
|
|
NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala)
|
rs147906282
|
|
|
NM_013296.5(GPSM2):c.515AAG[1] (p.Glu173del)
|
rs145997327
|
|
|
NM_013339.4(ALG6):c.1127+8A>C
|
rs756307525
|
|
|
NM_013339.4(ALG6):c.450C>A (p.Ile150=)
|
rs1644492796
|
|
|
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)
|
rs151103906
|
|
|
NM_014000.3(VCL):c.1704G>A (p.Gln568=)
|
rs1839959715
|
|
|
NM_014000.3(VCL):c.789T>C (p.Thr263=)
|
rs538002543
|
|
|
NM_014043.4(CHMP2B):c.531+8C>T
|
rs374796686
|
|
|
NM_014140.4(SMARCAL1):c.1485+8G>A
|
rs886055617
|
|
|
NM_014140.4(SMARCAL1):c.2295G>A (p.Glu765=)
|
rs1301876154
|
|
|
NM_014140.4(SMARCAL1):c.863-4G>T
|
rs1693689203
|
|
|
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser)
|
rs371378288
|
|
|
NM_014141.6(CNTNAP2):c.1348+13T>G
|
rs200282837
|
|
|
NM_014141.6(CNTNAP2):c.286A>G (p.Ser96Gly)
|
rs540745201
|
|
|
NM_014141.6(CNTNAP2):c.550+10G>A
|
rs776175685
|
|
|
NM_014141.6(CNTNAP2):c.600C>T (p.Phe200=)
|
rs752019151
|
|
|
NM_014141.6(CNTNAP2):c.945C>G (p.Thr315=)
|
rs794727872
|
|
|
NM_014159.7(SETD2):c.1414C>T (p.Arg472Cys)
|
rs771203643
|
|
|
NM_014225.6(PPP2R1A):c.1129-7_1129-3del
|
rs1064797248
|
|
|
NM_014236.4(GNPAT):c.1752C>T (p.Cys584=)
|
rs775776447
|
|
|
NM_014244.5(ADAMTS2):c.1308G>C (p.Ala436=)
|
rs41285549
|
|
|
NM_014244.5(ADAMTS2):c.183C>G (p.Pro61=)
|
rs375775300
|
|
|
NM_014244.5(ADAMTS2):c.1848C>G (p.Pro616=)
|
rs569510744
|
|
|
NM_014244.5(ADAMTS2):c.1977C>T (p.Cys659=)
|
rs758599662
|
|
|
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu)
|
rs200806292
|
|
|
NM_014244.5(ADAMTS2):c.2382G>A (p.Glu794=)
|
rs745407557
|
|
|
NM_014244.5(ADAMTS2):c.258C>G (p.Ala86=)
|
rs886060497
|
|
|
NM_014244.5(ADAMTS2):c.3012C>G (p.Thr1004=)
|
rs571054777
|
|
|
NM_014244.5(ADAMTS2):c.3078C>T (p.Gly1026=)
|
rs886060491
|
|
|
NM_014244.5(ADAMTS2):c.447G>A (p.Glu149=)
|
rs886060496
|
|
|
NM_014244.5(ADAMTS2):c.919T>C (p.Leu307=)
|
rs1764038673
|
|
|
NM_014249.4(NR2E3):c.1182C>T (p.Thr394=)
|
rs2140294988
|
|
|
NM_014252.4(SLC25A15):c.45G>A (p.Ala15=)
|
rs200958757
|
|
|
NM_014297.5(ETHE1):c.376-5G>C
|
rs886054479
|
|
|
NM_014297.5(ETHE1):c.378G>T (p.Ala126=)
|
rs138427304
|
|
|
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr)
|
rs199734111
|
|
|
NM_014324.6(AMACR):c.27G>A (p.Val9=)
|
rs780679627
|
|
|
NM_014324.6(AMACR):c.289C>A (p.Arg97=)
|
rs757072374
|
|
|
NM_014324.6(AMACR):c.553-5C>A
|
rs1753722683
|
|
|
NM_014336.5(AIPL1):c.970C>A (p.Arg324=)
|
rs375096209
|
|
|
NM_014336.5(AIPL1):c.98T>C (p.Val33Ala)
|
rs16955859
|
|
|
NM_014339.7(IL17RA):c.1233C>T (p.Ala411=)
|
rs552425210
|
|
|
NM_014339.7(IL17RA):c.1632G>C (p.Pro544=)
|
rs550947413
|
|
|
NM_014339.7(IL17RA):c.641C>T (p.Ala214Val)
|
rs558799480
|
|
|
NM_014339.7(IL17RA):c.894C>T (p.Ser298=)
|
rs374537654
|
|
|
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)
|
rs775633710
|
|
|
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser)
|
rs1425519295
|
|
|
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)
|
rs148286091
|
|
|
NM_014363.6(SACS):c.10765A>G (p.Ile3589Val)
|
|
|
|
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr)
|
|
|
|
NM_014363.6(SACS):c.11109C>T (p.Ser3703=)
|
rs1883570677
|
|
|
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile)
|
|
|
|
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)
|
|
|
|
NM_014363.6(SACS):c.12618T>C (p.Ile4206=)
|
rs1883457103
|
|
|
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg)
|
|
|
|
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)
|
|
|
|
NM_014363.6(SACS):c.1498G>A (p.Val500Ile)
|
rs1244967438
|
|
|
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys)
|
|
|
|
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)
|
|
|
|
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly)
|
rs752059006
|
|
|
NM_014363.6(SACS):c.247T>C (p.Leu83=)
|
rs1470292816
|
|
|
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala)
|
|
|
|
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
|
NM_014363.6(SACS):c.3769G>A (p.Gly1257Arg)
|
|
|
|
NM_014363.6(SACS):c.3915T>C (p.His1305=)
|
rs767598017
|
|
|
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr)
|
rs527513599
|
|
|
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala)
|
|
|
|
NM_014363.6(SACS):c.477C>T (p.Tyr159=)
|
rs1870531490
|
|
|
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg)
|
|
|
|
NM_014363.6(SACS):c.5462G>A (p.Cys1821Tyr)
|
|
|
|
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg)
|
rs758570844
|
|
|
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)
|
rs537408260
|
|
|
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala)
|
|
|
|
NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile)
|
|
|
|
NM_014363.6(SACS):c.7306A>G (p.Ile2436Val)
|
rs567650774
|
|
|
NM_014363.6(SACS):c.744A>G (p.Ala248=)
|
rs1448438600
|
|
|
NM_014363.6(SACS):c.751G>A (p.Val251Ile)
|
rs776176699
|
|
|
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys)
|
|
|
|
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu)
|
rs34928783
|
|
|
NM_014363.6(SACS):c.8362G>A (p.Val2788Ile)
|
|
|
|
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln)
|
|
|
|
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile)
|
|
|
|
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr)
|
|
|
|
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu)
|
rs569955570
|
|
|
NM_014363.6(SACS):c.972C>A (p.Asp324Glu)
|
rs546652936
|
|
|
NM_014365.3(HSPB8):c.432-10T>A
|
rs368810689
|
|
|
NM_014391.3(ANKRD1):c.346-11T>A
|
rs1371295947
|
|
|
NM_014391.3(ANKRD1):c.346-12_346-11insTATA
|
rs766545285
|
|
|
NM_014391.3(ANKRD1):c.346-21ATTT[2]
|
rs397517250
|
|
|
NM_014391.3(ANKRD1):c.346-43AT[13]
|
rs60406118
|
|
|
NM_014423.4(AFF4):c.2656T>A (p.Ser886Thr)
|
|
|
|
NM_014425.5(INVS):c.907-13dup
|
rs750082874
|
|
|
NM_014444.5(TUBGCP4):c.1066-10C>G
|
rs200550774
|
|
|
NM_014491.4(FOXP2):c.1434A>T (p.Arg478=)
|
rs201343293
|
|
|
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp)
|
rs74315433
|
|
|
NM_014639.4(SKIC3):c.2292-7C>T
|
rs1554050960
|
|
|
NM_014639.4(SKIC3):c.4310G>T (p.Ser1437Ile)
|
rs755895621
|
|
|
NM_014714.4(IFT140):c.2997+8C>G
|
rs372183503
|
|
|
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln)
|
rs201884886
|
|
|
NM_014714.4(IFT140):c.3513G>A (p.Ala1171=)
|
rs763709094
|
|
|
NM_014714.4(IFT140):c.3660+13C>T
|
rs767836990
|
|
|
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala)
|
rs148462329
|
|
|
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser)
|
rs141254616
|
|
|
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg)
|
rs145858131
|
|
|
NM_014714.4(IFT140):c.867C>T (p.Ser289=)
|
rs145858131
|
|
|
NM_014727.3(KMT2B):c.1211C>T (p.Pro404Leu)
|
|
|
|
NM_014727.3(KMT2B):c.1650C>G (p.Asp550Glu)
|
|
|
|
NM_014727.3(KMT2B):c.1693C>T (p.Pro565Ser)
|
|
|
|
NM_014727.3(KMT2B):c.1790C>T (p.Pro597Leu)
|
|
|
|
NM_014727.3(KMT2B):c.1918T>A (p.Ser640Thr)
|
|
|
|
NM_014727.3(KMT2B):c.2797G>A (p.Gly933Arg)
|
|
|
|
NM_014727.3(KMT2B):c.4025C>T (p.Thr1342Ile)
|
|
|
|
NM_014727.3(KMT2B):c.4028G>A (p.Arg1343His)
|
|
|
|
NM_014727.3(KMT2B):c.4198C>T (p.Arg1400Cys)
|
|
|
|
NM_014727.3(KMT2B):c.4379A>G (p.His1460Arg)
|
|
|
|
NM_014727.3(KMT2B):c.4534G>A (p.Asp1512Asn)
|
|
|
|
NM_014727.3(KMT2B):c.475A>T (p.Thr159Ser)
|
|
|
|
NM_014727.3(KMT2B):c.5744G>A (p.Arg1915His)
|
rs746724776
|
|
|
NM_014727.3(KMT2B):c.6056G>C (p.Gly2019Ala)
|
|
|
|
NM_014727.3(KMT2B):c.6236G>A (p.Arg2079Gln)
|
|
|
|
NM_014727.3(KMT2B):c.6332C>T (p.Ser2111Leu)
|
|
|
|
NM_014727.3(KMT2B):c.6413C>T (p.Pro2138Leu)
|
rs772818778
|
|
|
NM_014727.3(KMT2B):c.6518G>A (p.Arg2173Gln)
|
|
|
|
NM_014727.3(KMT2B):c.6782C>A (p.Thr2261Lys)
|
|
|
|
NM_014727.3(KMT2B):c.6968G>A (p.Arg2323His)
|
|
|
|
NM_014780.5(CUL7):c.1782G>A (p.Ala594=)
|
rs369092411
|
|
|
NM_014780.5(CUL7):c.2581C>T (p.Pro861Ser)
|
rs147452416
|
|
|
NM_014780.5(CUL7):c.2754G>A (p.Thr918=)
|
rs138777262
|
|
|
NM_014795.4(ZEB2):c.2226A>T (p.Pro742=)
|
rs540345773
|
|
|
NM_014795.4(ZEB2):c.2707G>T (p.Ala903Ser)
|
rs730881200
|
|
|
NM_014795.4(ZEB2):c.82_87del (p.Tyr28_Asp29del)
|
rs730881214
|
|
|
NM_014804.3(KIAA0753):c.2678C>G (p.Pro893Arg)
|
rs112740973
|
|
|
NM_014844.5(TECPR2):c.3456C>T (p.Ser1152=)
|
rs199827410
|
|
|
NM_014844.5(TECPR2):c.423A>G (p.Lys141=)
|
rs756199626
|
|
|
NM_014844.5(TECPR2):c.726A>T (p.Leu242=)
|
rs748794723
|
|
|
NM_014855.3(AP5Z1):c.1740G>A (p.Ala580=)
|
rs773950276
|
|
|
NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=)
|
rs374673921
|
|
|
NM_014855.3(AP5Z1):c.2151C>T (p.Pro717=)
|
rs1781745482
|
|
|
NM_014855.3(AP5Z1):c.969+3_969+6dup
|
rs748280348
|
|
|
NM_014874.4(MFN2):c.1716+8A>G
|
rs1639390139
|
|
|
NM_014915.3(ANKRD26):c.228A>C (p.Arg76Ser)
|
|
|
|
NM_014915.3(ANKRD26):c.371A>T (p.Gln124Leu)
|
rs200100926
|
|
|
NM_014915.3(ANKRD26):c.4651G>A (p.Glu1551Lys)
|
|
|
|
NM_014915.3(ANKRD26):c.521C>G (p.Ala174Gly)
|
|
|
|
NM_014946.4(SPAST):c.1744T>C (p.Leu582=)
|
rs886055962
|
|
|
NM_014946.4(SPAST):c.519A>G (p.Arg173=)
|
rs1677627735
|
|
|
NM_014956.5(CEP164):c.194+15G>T
|
rs1423887740
|
|
|
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu)
|
rs143659874
|
|
|
NM_014989.7(RIMS1):c.2107T>A (p.Ser703Thr)
|
rs772471723
|
|
|
NM_014989.7(RIMS1):c.3116+8C>T
|
rs1277312139
|
|
|
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs)
|
rs587783021
|
|
|
NM_015073.3(SIPA1L3):c.163GCCACC[4] (p.55AT[4])
|
|
|
|
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del)
|
rs55889738
|
|
|
NM_015135.3(NUP205):c.5276A>G (p.Asn1759Ser)
|
|
|
|
NM_015178.3(RHOBTB2):c.248G>A (p.Trp83Ter)
|
rs1357068280
|
|
|
NM_015192.4(PLCB1):c.1854T>C (p.Gly618=)
|
rs559952614
|
|
|
NM_015192.4(PLCB1):c.2571G>A (p.Thr857=)
|
rs995077080
|
|
|
NM_015192.4(PLCB1):c.3135C>A (p.Val1045=)
|
rs577076166
|
|
|
NM_015231.3(NUP160):c.740C>T (p.Pro247Leu)
|
|
|
|
NM_015311.3(OBSL1):c.4732_4733inv (p.Gln1578Trp)
|
|
|
|
NM_015311.3(OBSL1):c.4812C>T (p.Ala1604=)
|
rs564855597
|
|
|
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter)
|
rs140825693
|
|
|
NM_015330.6(SPECC1L):c.3326C>T (p.Thr1109Met)
|
rs1247798129
|
|
|
NM_015338.6(ASXL1):c.2011G>T (p.Ala671Ser)
|
rs1600586513
|
|
|
NM_015338.6(ASXL1):c.2616C>T (p.Cys872=)
|
|
|
|
NM_015338.6(ASXL1):c.3635C>T (p.Ser1212Phe)
|
rs542568224
|
|
|
NM_015346.4(ZFYVE26):c.3248_3253del (p.Leu1083_Ser1084del)
|
rs761454264
|
|
|
NM_015346.4(ZFYVE26):c.5622-10_5622-9del
|
rs768978705
|
|
|
NM_015346.4(ZFYVE26):c.715C>T (p.Leu239=)
|
|
|
|
NM_015378.4(VPS13D):c.1103A>T (p.Asp368Val)
|
|
|
|
NM_015378.4(VPS13D):c.276G>T (p.Glu92Asp)
|
|
|
|
NM_015378.4(VPS13D):c.5270A>T (p.Asp1757Val)
|
|
|
|
NM_015404.4(WHRN):c.1126G>T (p.Ala376Ser)
|
rs545251395
|
|
|
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser)
|
rs150586098
|
|
|
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys)
|
rs150586098
|
|
|
NM_015466.4(PTPN23):c.2856GCCCCA[2] (p.954QP[1])
|
rs552397269
|
|
|
NM_015466.4(PTPN23):c.2856GCCCCA[4] (p.954QP[3])
|
rs552397269
|
|
|
NM_015466.4(PTPN23):c.547-7G>A
|
|
|
|
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=)
|
rs769968442
|
|
|
NM_015506.3(MMACHC):c.277-8_277-3dup
|
rs756072947
|
|
|
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
|
rs564280688
|
|
|
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)
|
rs796064513
|
|
|
NM_015559.3(SETBP1):c.1058_1059delinsTC (p.Asp353Val)
|
rs2145095402
|
|
|
NM_015559.3(SETBP1):c.160C>T (p.Arg54Cys)
|
rs1325528399
|
|
|
NM_015559.3(SETBP1):c.2722G>A (p.Asp908Asn)
|
|
|
|
NM_015559.3(SETBP1):c.2740C>T (p.Arg914Trp)
|
|
|
|
NM_015559.3(SETBP1):c.3847G>C (p.Glu1283Gln)
|
|
|
|
NM_015559.3(SETBP1):c.3900GAG[1] (p.Arg1301del)
|
rs754546927
|
|
|
NM_015559.3(SETBP1):c.3961C>T (p.Arg1321Cys)
|
|
|
|
NM_015559.3(SETBP1):c.428G>A (p.Arg143His)
|
|
|
|
NM_015559.3(SETBP1):c.4580C>T (p.Pro1527Leu)
|
|
|
|
NM_015559.3(SETBP1):c.470G>A (p.Ser157Asn)
|
|
|
|
NM_015559.3(SETBP1):c.557A>G (p.Gln186Arg)
|
rs751069486
|
|
|
NM_015559.3(SETBP1):c.927C>A (p.Asn309Lys)
|
rs199603131
|
|
|
NM_015570.4(AUTS2):c.1858C>T (p.Arg620Trp)
|
|
|
|
NM_015570.4(AUTS2):c.995C>A (p.Pro332His)
|
rs757432625
|
|
|
NM_015627.3(LDLRAP1):c.276G>A (p.Val92=)
|
rs1215026981
|
|
|
NM_015627.3(LDLRAP1):c.414C>T (p.Asn138=)
|
rs1057515536
|
|
|
NM_015627.3(LDLRAP1):c.45C>T (p.Pro15=)
|
rs1057515534
|
|
|
NM_015627.3(LDLRAP1):c.480C>T (p.Thr160=)
|
rs1057515463
|
|
|
NM_015627.3(LDLRAP1):c.604_605delinsCA (p.Ser202His)
|
rs386629678
|
|
|
NM_015634.4(KIFBP):c.557G>A (p.Arg186His)
|
|
|
|
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)
|
rs529850410
|
|
|
NM_015702.3(MMADHC):c.759A>T (p.Gly253=)
|
rs886054920
|
|
|
NM_015909.4(NBAS):c.1091A>G (p.Tyr364Cys)
|
rs534890707
|
|
|
NM_015909.4(NBAS):c.3610A>G (p.Thr1204Ala)
|
|
|
|
NM_015909.4(NBAS):c.6712-10G>A
|
|
|
|
NM_015909.4(NBAS):c.767G>A (p.Cys256Tyr)
|
rs575240073
|
|
|
NM_015922.3(NSDHL):c.816C>A (p.Pro272=)
|
rs1328593149
|
|
|
NM_015937.6(PIGT):c.848A>T (p.Asp283Val)
|
rs574857016
|
|
|
NM_015978.3(TNNI3K):c.2476C>G (p.Arg826Gly)
|
rs201614312
|
|
|
NM_016011.5(MECR):c.246C>T (p.Ile82=)
|
|
|
|
NM_016030.6(TRAPPC12):c.1759G>A (p.Gly587Ser)
|
rs111556571
|
|
|
NM_016032.4(ZDHHC9):c.718G>C (p.Val240Leu)
|
rs770589013
|
|
|
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=)
|
rs1828679645
|
|
|
NM_016111.4(TELO2):c.1969G>A (p.Val657Met)
|
|
|
|
NM_016123.4(IRAK4):c.1347+13del
|
rs751119487
|
|
|
NM_016156.6(MTMR2):c.184_186del (p.Arg62del)
|
rs141498429
|
|
|
NM_016180.5(SLC45A2):c.953G>T (p.Arg318Leu)
|
rs142299109
|
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
|
NM_016213.5(TRIP4):c.1387C>A (p.His463Asn)
|
rs375004645
|
|
|
NM_016219.5(MAN1B1):c.159G>A (p.Thr53=)
|
rs774835139
|
|
|
NM_016222.4(DDX41):c.1332C>T (p.Asp444=)
|
rs554494724
|
|
|
NM_016222.4(DDX41):c.138+5G>A
|
rs187714514
|
|
|
NM_016222.4(DDX41):c.1563C>T (p.Gly521=)
|
|
|
|
NM_016222.4(DDX41):c.189G>C (p.Gln63His)
|
|
|
|
NM_016222.4(DDX41):c.27+9G>A
|
rs765022870
|
|
|
NM_016239.4(MYO15A):c.10192C>T (p.His3398Tyr)
|
|
|
|
NM_016239.4(MYO15A):c.1323G>A (p.Ala441=)
|
rs376905344
|
|
|
NM_016239.4(MYO15A):c.1630C>T (p.Arg544Cys)
|
|
|
|
NM_016239.4(MYO15A):c.2257G>C (p.Ala753Pro)
|
rs776096881
|
|
|
NM_016239.4(MYO15A):c.2513C>T (p.Ser838Leu)
|
|
|
|
NM_016239.4(MYO15A):c.3122C>A (p.Pro1041His)
|
rs200587502
|
|
|
NM_016239.4(MYO15A):c.374G>A (p.Arg125Gln)
|
|
|
|
NM_016239.4(MYO15A):c.4656-11del
|
rs767773802
|
|
|
NM_016239.4(MYO15A):c.5194G>C (p.Val1732Leu)
|
rs377309887
|
|
|
NM_016239.4(MYO15A):c.534C>T (p.Ala178=)
|
rs749146534
|
|
|
NM_016239.4(MYO15A):c.7961C>G (p.Thr2654Ser)
|
rs200355614
|
|
|
NM_016239.4(MYO15A):c.8513A>C (p.Asn2838Thr)
|
|
|
|
NM_016239.4(MYO15A):c.9190G>C (p.Asp3064His)
|
rs182977390
|
|
|
NM_016335.6(PRODH):c.850-10A>G
|
|
|
|
NM_016341.4(PLCE1):c.1927G>T (p.Ala643Ser)
|
rs61886330
|
|
|
NM_016341.4(PLCE1):c.2032A>G (p.Met678Val)
|
rs201422605
|
|
|
NM_016341.4(PLCE1):c.5115G>A (p.Pro1705=)
|
|
|
|
NM_016341.4(PLCE1):c.6853GAG[1] (p.Glu2286del)
|
rs771798085
|
|
|
NM_016356.5(DCDC2):c.543C>A (p.Ser181Arg)
|
rs141060456
|
|
|
NM_016363.5(GP6):c.932CCCTCCCGC[1] (p.308PLP[2])
|
|
|
|
NM_016366.3(CABP2):c.201C>A (p.Ala67=)
|
rs138981491
|
|
|
NM_016630.7(SPG21):c.177T>C (p.Phe59=)
|
rs2085872082
|
|
|
NM_016630.7(SPG21):c.321C>T (p.Gly107=)
|
rs566278586
|
|
|
NM_016729.3(FOLR1):c.510A>G (p.Ala170=)
|
rs564331848
|
|
|
NM_016938.5(EFEMP2):c.321C>T (p.Asn107=)
|
rs762409753
|
|
|
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His)
|
rs143918373
|
|
|
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=)
|
rs372169216
|
|
|
NM_017534.6(MYH2):c.2478C>T (p.Ser826=)
|
rs2073428153
|
|
|
NM_017534.6(MYH2):c.3517C>A (p.Arg1173=)
|
rs767243766
|
|
|
NM_017534.6(MYH2):c.4204C>T (p.Arg1402Trp)
|
|
|
|
NM_017547.4(FOXRED1):c.470C>T (p.Ser157Leu)
|
rs778727697
|
|
|
NM_017547.4(FOXRED1):c.755G>A (p.Arg252His)
|
|
|
|
NM_017565.4(FAM20A):c.134C>A (p.Pro45Gln)
|
|
|
|
NM_017613.4(DONSON):c.786-7T>C
|
|
|
|
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu)
|
rs778992111
|
|
|
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser)
|
rs1454630791
|
|
|
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu)
|
rs377286829
|
|
|
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His)
|
rs373075482
|
|
|
NM_017617.5(NOTCH1):c.3172-5C>T
|
rs762077987
|
|
|
NM_017617.5(NOTCH1):c.3283G>A (p.Asp1095Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu)
|
rs756972680
|
|
|
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys)
|
rs750085425
|
|
|
NM_017636.4(TRPM4):c.1908G>C (p.Val636=)
|
rs950364050
|
|
|
NM_017636.4(TRPM4):c.2154A>C (p.Thr718=)
|
rs370827464
|
|
|
NM_017636.4(TRPM4):c.2358C>T (p.Asn786=)
|
rs886054579
|
|
|
NM_017636.4(TRPM4):c.2529G>C (p.Gly843=)
|
rs754769591
|
|
|
NM_017636.4(TRPM4):c.2987_3014del (p.Glu996fs)
|
rs765535147
|
|
|
NM_017649.5(CNNM2):c.2421C>A (p.Ile807=)
|
|
|
|
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs)
|
rs375515095
|
|
|
NM_017654.4(SAMD9):c.2715G>A (p.Leu905=)
|
|
|
|
NM_017654.4(SAMD9):c.3243T>C (p.Asn1081=)
|
|
|
|
NM_017721.5(CC2D1A):c.2073+7G>A
|
rs539992718
|
|
|
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala)
|
rs77389229
|
|
|
NM_017721.5(CC2D1A):c.513+6_513+12del
|
rs541952457
|
|
|
NM_017755.6(NSUN2):c.2022C>T (p.Pro674=)
|
rs797045837
|
|
|
NM_017755.6(NSUN2):c.97-10C>T
|
rs199959678
|
|
|
NM_017763.6(RNF43):c.1880T>C (p.Val627Ala)
|
rs199831923
|
|
|
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=)
|
rs1805737676
|
|
|
NM_017837.4(PIGV):c.348_349delinsAG (p.Ile117Val)
|
rs886044116
|
|
|
NM_017837.4(PIGV):c.678G>A (p.Thr226=)
|
rs769023704
|
|
|
NM_017882.3(CLN6):c.213C>G (p.Leu71=)
|
rs146980624
|
|
|
NM_017882.3(CLN6):c.66C>T (p.Ala22=)
|
rs796052349
|
|
|
NM_017882.3(CLN6):c.83+11G>A
|
rs2093262385
|
|
|
NM_017934.7(PHIP):c.187C>T (p.Leu63=)
|
rs1774230017
|
|
|
NM_017934.7(PHIP):c.2935C>T (p.Arg979Trp)
|
|
|
|
NM_017934.7(PHIP):c.4135A>G (p.Met1379Val)
|
|
|
|
NM_018006.5(TRMU):c.102G>A (p.Val34=)
|
rs1426898716
|
|
|
NM_018006.5(TRMU):c.248+9_248+18del
|
rs763718617
|
|
|
NM_018006.5(TRMU):c.660C>T (p.Gly220=)
|
|
|
|
NM_018006.5(TRMU):c.773-12_773-9del
|
rs863224241
|
|
|
NM_018006.5(TRMU):c.99G>A (p.Gly33=)
|
rs1569060096
|
|
|
NM_018026.4(PACS1):c.444+9G>A
|
|
|
|
NM_018026.4(PACS1):c.661-15T>A
|
rs1565150720
|
|
|
NM_018055.5(NODAL):c.819C>G (p.Ala273=)
|
rs749265748
|
|
|
NM_018075.5(ANO10):c.1137T>C (p.Tyr379=)
|
|
|
|
NM_018075.5(ANO10):c.1798-12_1798-9del
|
rs545954936
|
|
|
NM_018075.5(ANO10):c.45C>T (p.Phe15=)
|
|
|
|
NM_018075.5(ANO10):c.488C>T (p.Thr163Met)
|
|
|
|
NM_018075.5(ANO10):c.946C>T (p.Leu316=)
|
|
|
|
NM_018122.5(DARS2):c.228-10C>G
|
rs201817953
|
|
|
NM_018129.4(PNPO):c.549T>C (p.Tyr183=)
|
rs2036008214
|
|
|
NM_018136.5(ASPM):c.2936+11_2936+14del
|
rs745619939
|
|
|
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del)
|
rs587783241
|
|
|
NM_018136.5(ASPM):c.9539_9540delinsCA (p.Gln3180Pro)
|
rs2125088445
|
|
|
NM_018206.6(VPS35):c.1035G>A (p.Glu345=)
|
rs563975281
|
|
|
NM_018249.6(CDK5RAP2):c.5452-8C>T
|
|
|
|
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)
|
rs534280770
|
|
|
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=)
|
rs1387756161
|
|
|
NM_018389.5(SLC35C1):c.402C>T (p.Cys134=)
|
rs955606062
|
|
|
NM_018418.5(SPATA7):c.57G>A (p.Pro19=)
|
rs367830780
|
|
|
NM_018418.5(SPATA7):c.57G>T (p.Pro19=)
|
rs367830780
|
|
|
NM_018451.5(CENPJ):c.568+7T>G
|
|
|
|
NM_018669.6(WDR4):c.188C>T (p.Ala63Val)
|
|
|
|
NM_018714.3(COG1):c.903G>C (p.Gln301His)
|
rs117208167
|
|
|
NM_018718.3(CEP41):c.278-15A>C
|
rs142452124
|
|
|
NM_018834.6(MATR3):c.1734+11T>G
|
rs886059990
|
|
|
NM_018834.6(MATR3):c.2031C>T (p.Asp677=)
|
rs557085910
|
|
|
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser)
|
rs368217486
|
|
|
NM_018834.6(MATR3):c.675A>G (p.Arg225=)
|
rs199711502
|
|
|
NM_018896.5(CACNA1G):c.2014C>T (p.Arg672Trp)
|
|
|
|
NM_018896.5(CACNA1G):c.3065-8C>T
|
|
|
|
NM_018896.5(CACNA1G):c.3265G>A (p.Ala1089Thr)
|
|
|
|
NM_018896.5(CACNA1G):c.3449G>A (p.Arg1150Gln)
|
|
|
|
NM_018896.5(CACNA1G):c.4682G>A (p.Arg1561Gln)
|
|
|
|
NM_018941.4(CLN8):c.234A>G (p.Thr78=)
|
rs1450867136
|
|
|
NM_018979.4(WNK1):c.1269G>A (p.Ser423=)
|
rs955095527
|
|
|
NM_018993.4(RIN2):c.2260G>A (p.Glu754Lys)
|
rs375974979
|
|
|
NM_019023.5(PRMT7):c.1951TTC[1] (p.Phe652del)
|
rs562766169
|
|
|
NM_019032.6(ADAMTSL4):c.1750-10_1750-6del
|
rs886045267
|
|
|
NM_019032.6(ADAMTSL4):c.426G>A (p.Ala142=)
|
|
|
|
NM_019066.5(MAGEL2):c.1344_1385del (p.442PVIRQAP[1])
|
|
|
|
NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu)
|
rs201935129
|
|
|
NM_019066.5(MAGEL2):c.2919G>A (p.Pro973=)
|
rs544938560
|
|
|
NM_019066.5(MAGEL2):c.979G>A (p.Ala327Thr)
|
|
|
|
NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del)
|
rs758914061
|
|
|
NM_019098.5(CNGB3):c.843A>G (p.Gly281=)
|
rs1200686449
|
|
|
NM_019109.5(ALG1):c.946G>A (p.Val316Ile)
|
rs150272167
|
|
|
NM_019112.3(ABCA7):c.2126_2132del (p.Glu709fs)
|
rs547447016
|
|
|
NM_019842.4(KCNQ5):c.703C>T (p.Arg235Cys)
|
rs2150391522
|
|
|
NM_019885.4(CYP26B1):c.1417C>A (p.Arg473Ser)
|
rs61751056
|
|
|
NM_019888.3(MC3R):c.429C>G (p.Tyr143Ter)
|
rs148382606
|
|
|
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=)
|
rs746782404
|
|
|
NM_019892.6(INPP5E):c.1279+14T>C
|
rs886063711
|
|
|
NM_020066.5(FMN2):c.4065+7A>G
|
rs749567608
|
|
|
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=)
|
rs563586657
|
|
|
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn)
|
rs200031275
|
|
|
NM_020166.5(MCCC1):c.231G>A (p.Ala77=)
|
rs144230304
|
|
|
NM_020166.5(MCCC1):c.300C>G (p.Pro100=)
|
rs747409426
|
|
|
NM_020166.5(MCCC1):c.768A>G (p.Val256=)
|
rs567236851
|
|
|
NM_020184.4(CNNM4):c.627G>A (p.Leu209=)
|
rs1553474576
|
|
|
NM_020207.7(ERCC6L2):c.2100+13_2100+15del
|
|
|
|
NM_020247.5(COQ8A):c.1256+11C>G
|
rs564593360
|
|
|
NM_020247.5(COQ8A):c.1398+12C>A
|
rs774158999
|
|
|
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=)
|
rs886046069
|
|
|
NM_020247.5(COQ8A):c.1830C>T (p.His610=)
|
|
|
|
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys)
|
rs555171534
|
|
|
NM_020247.5(COQ8A):c.521C>A (p.Thr174Lys)
|
rs181579601
|
|
|
NM_020297.4(ABCC9):c.133T>C (p.Leu45=)
|
rs1555125400
|
|
|
NM_020297.4(ABCC9):c.1992C>T (p.Pro664=)
|
rs780071007
|
|
|
NM_020297.4(ABCC9):c.366T>C (p.Tyr122=)
|
rs886049174
|
|
|
NM_020297.4(ABCC9):c.6C>T (p.Ser2=)
|
rs765382139
|
|
|
NM_020320.5(RARS2):c.772-3del
|
rs368859792
|
|
|
NM_020320.5(RARS2):c.772-4_772-3del
|
rs368859792
|
|
|
NM_020320.5(RARS2):c.818G>T (p.Arg273Leu)
|
rs139721632
|
|
|
NM_020320.5(RARS2):c.888G>A (p.Thr296=)
|
rs145189950
|
|
|
NM_020338.4(ZMIZ1):c.2978C>T (p.Pro993Leu)
|
|
|
|
NM_020376.4(PNPLA2):c.165G>T (p.Ala55=)
|
rs761885395
|
|
|
NM_020376.4(PNPLA2):c.487-15T>G
|
rs749452055
|
|
|
NM_020376.4(PNPLA2):c.487-7G>A
|
rs372342635
|
|
|
NM_020435.4(GJC2):c.1084G>A (p.Ala362Thr)
|
rs565574386
|
|
|
NM_020451.3(SELENON):c.1148GCA[1] (p.Ser384del)
|
rs770747626
|
|
|
NM_020461.4(TUBGCP6):c.4322C>T (p.Pro1441Leu)
|
rs201730639
|
|
|
NM_020461.4(TUBGCP6):c.5327C>G (p.Ser1776Cys)
|
rs374204240
|
|
|
NM_020533.3(MCOLN1):c.1032G>A (p.Leu344=)
|
rs371345093
|
|
|
NM_020533.3(MCOLN1):c.1135-14G>A
|
rs2022615978
|
|
|
NM_020533.3(MCOLN1):c.1590A>C (p.Ala530=)
|
rs2022699936
|
|
|
NM_020533.3(MCOLN1):c.1707-14C>T
|
rs541186661
|
|
|
NM_020533.3(MCOLN1):c.204G>A (p.Leu68=)
|
rs1481445686
|
|
|
NM_020533.3(MCOLN1):c.985-15G>C
|
rs199860642
|
|
|
NM_020549.5(CHAT):c.275C>G (p.Pro92Arg)
|
rs372298555
|
|
|
NM_020549.5(CHAT):c.59_60del (p.Glu20fs)
|
rs531450737
|
|
|
NM_020686.6(ABAT):c.1123-14G>A
|
rs758870080
|
|
|
NM_020686.6(ABAT):c.1140C>T (p.Asn380=)
|
rs770156912
|
|
|
NM_020686.6(ABAT):c.1389G>A (p.Val463=)
|
rs2060432508
|
|
|
NM_020686.6(ABAT):c.317-5C>G
|
rs781499078
|
|
|
NM_020686.6(ABAT):c.540+14CA[14]
|
rs35745596
|
|
|
NM_020686.6(ABAT):c.645C>A (p.Gly215=)
|
rs1139522
|
|
|
NM_020686.6(ABAT):c.667+7_667+8dup
|
rs748783252
|
|
|
NM_020708.5(SLC12A5):c.1689-7G>A
|
rs2084595386
|
|
|
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala)
|
rs201268862
|
|
|
NM_020738.4(KIDINS220):c.1557G>A (p.Thr519=)
|
|
|
|
NM_020745.4(AARS2):c.2701C>T (p.Arg901Trp)
|
rs145086947
|
|
|
NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del)
|
rs562829310
|
|
|
NM_020778.5(ALPK3):c.168C>T (p.His56=)
|
|
|
|
NM_020822.3(KCNT1):c.3174C>T (p.Ala1058=)
|
rs2131577612
|
|
|
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp)
|
rs768536067
|
|
|
NM_020928.2(ZSWIM6):c.151GCG[7] (p.Ala56dup)
|
rs779283808
|
|
|
NM_020928.2(ZSWIM6):c.151GCG[8] (p.Ala55_Ala56dup)
|
rs779283808
|
|
|
NM_020928.2(ZSWIM6):c.442GGC[5] (p.Gly153_Gly154del)
|
rs864309616
|
|
|
NM_020928.2(ZSWIM6):c.83GCG[8] (p.Gly32_Gly33dup)
|
rs528020839
|
|
|
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)
|
rs142607078
|
|
|
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp)
|
rs116076204
|
|
|
NM_020987.5(ANK3):c.11007C>A (p.Thr3669=)
|
rs2131966858
|
|
|
NM_021008.4(DEAF1):c.294G>A (p.Val98=)
|
rs1038817783
|
|
|
NM_021075.4(NDUFV3):c.11C>G (p.Pro4Arg)
|
rs77606940
|
|
|
NM_021076.4(NEFH):c.727G>A (p.Gly243Ser)
|
rs548521745
|
|
|
NM_021098.3(CACNA1H):c.13G>A (p.Ala5Thr)
|
rs948561024
|
|
|
NM_021098.3(CACNA1H):c.2342C>A (p.Thr781Asn)
|
rs200687647
|
|
|
NM_021098.3(CACNA1H):c.3091G>A (p.Glu1031Lys)
|
rs548097951
|
|
|
NM_021098.3(CACNA1H):c.4135A>G (p.Ile1379Val)
|
|
|
|
NM_021098.3(CACNA1H):c.5723C>T (p.Ala1908Val)
|
|
|
|
NM_021098.3(CACNA1H):c.6002G>A (p.Arg2001Gln)
|
rs200399120
|
|
|
NM_021098.3(CACNA1H):c.6643A>G (p.Thr2215Ala)
|
|
|
|
NM_021098.3(CACNA1H):c.6692C>T (p.Ser2231Phe)
|
rs746267333
|
|
|
NM_021615.5(CHST6):c.573C>G (p.Pro191=)
|
rs1044185449
|
|
|
NM_021625.5(TRPV4):c.1825-15C>G
|
rs200602134
|
|
|
NM_021625.5(TRPV4):c.195A>G (p.Pro65=)
|
rs1891742510
|
|
|
NM_021625.5(TRPV4):c.2433G>A (p.Ser811=)
|
rs34071623
|
|
|
NM_021729.6(VPS11):c.336+8C>T
|
rs1555201791
|
|
|
NM_021830.5(TWNK):c.562G>A (p.Asp188Asn)
|
|
|
|
NM_021922.3(FANCE):c.1263T>C (p.Cys421=)
|
rs747692546
|
|
|
NM_021922.3(FANCE):c.1593G>A (p.Leu531=)
|
rs886061332
|
|
|
NM_021922.3(FANCE):c.937C>T (p.Leu313=)
|
rs557021652
|
|
|
NM_021939.4(FKBP10):c.1029C>T (p.Ile343=)
|
rs782632205
|
|
|
NM_021939.4(FKBP10):c.21C>T (p.Pro7=)
|
rs781985978
|
|
|
NM_021939.4(FKBP10):c.246-5C>G
|
rs140027863
|
|
|
NM_021942.6(TRAPPC11):c.944A>G (p.His315Arg)
|
rs533000838
|
|
|
NM_022042.4(SLC26A1):c.213C>A (p.Gly71=)
|
|
|
|
NM_022051.3(EGLN1):c.432C>T (p.Pro144=)
|
rs886046110
|
|
|
NM_022051.3(EGLN1):c.597G>C (p.Val199=)
|
rs563998083
|
|
|
NM_022081.6(HPS4):c.860G>C (p.Gly287Ala)
|
rs571151621
|
|
|
NM_022089.4(ATP13A2):c.1195+5G>A
|
|
|
|
NM_022095.4(ZNF335):c.131C>G (p.Ala44Gly)
|
|
|
|
NM_022095.4(ZNF335):c.2564C>T (p.Ala855Val)
|
rs564168844
|
|
|
NM_022095.4(ZNF335):c.825C>T (p.Ala275=)
|
rs797046125
|
|
|
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln)
|
rs562525508
|
|
|
NM_022124.6(CDH23):c.240G>A (p.Val80=)
|
|
|
|
NM_022124.6(CDH23):c.2532C>T (p.Asn844=)
|
rs756454038
|
|
|
NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu)
|
rs377100683
|
|
|
NM_022124.6(CDH23):c.3477G>C (p.Leu1159=)
|
rs1564759522
|
|
|
NM_022124.6(CDH23):c.4005C>G (p.Val1335=)
|
rs886047136
|
|
|
NM_022124.6(CDH23):c.4390G>T (p.Ala1464Ser)
|
rs756674688
|
|
|
NM_022124.6(CDH23):c.4984C>T (p.Leu1662=)
|
rs886047139
|
|
|
NM_022124.6(CDH23):c.5727T>C (p.Thr1909=)
|
rs756919394
|
|
|
NM_022124.6(CDH23):c.588G>A (p.Glu196=)
|
rs886047129
|
|
|
NM_022124.6(CDH23):c.6108C>T (p.Ile2036=)
|
rs749235545
|
|
|
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)
|
rs537236734
|
|
|
NM_022124.6(CDH23):c.7482+12C>A
|
rs370000472
|
|
|
NM_022124.6(CDH23):c.7551C>T (p.Ser2517=)
|
rs886047140
|
|
|
NM_022124.6(CDH23):c.7873-8C>G
|
rs376526400
|
|
|
NM_022124.6(CDH23):c.9739-12G>A
|
rs200638595
|
|
|
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=)
|
rs886060738
|
|
|
NM_022367.4(SEMA4A):c.810+7G>A
|
rs568949451
|
|
|
NM_022436.3(ABCG5):c.905-3dup
|
rs142037828
|
|
|
NM_022437.3(ABCG8):c.1024G>T (p.Ala342Ser)
|
rs145373839
|
|
|
NM_022437.3(ABCG8):c.1128-4C>T
|
|
|
|
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val)
|
rs147194762
|
|
|
NM_022437.3(ABCG8):c.1568C>T (p.Pro523Leu)
|
rs558635043
|
|
|
NM_022437.3(ABCG8):c.1757-15G>A
|
|
|
|
NM_022437.3(ABCG8):c.1757-4C>G
|
rs765522418
|
|
|
NM_022437.3(ABCG8):c.1884+9G>A
|
rs759152941
|
|
|
NM_022437.3(ABCG8):c.1885-7T>C
|
rs1485558944
|
|
|
NM_022437.3(ABCG8):c.642G>A (p.Ser214=)
|
rs202198142
|
|
|
NM_022437.3(ABCG8):c.768C>T (p.Ser256=)
|
rs1558811634
|
|
|
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro)
|
rs750684515
|
|
|
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr)
|
rs201483724
|
|
|
NM_022455.5(NSD1):c.622G>A (p.Gly208Arg)
|
rs1581091469
|
|
|
NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln)
|
rs755013078
|
|
|
NM_022455.5(NSD1):c.793A>G (p.Ile265Val)
|
rs771587260
|
|
|
NM_022464.5(SIL1):c.1017G>C (p.Leu339=)
|
rs769587333
|
|
|
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
|
|
|
|
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
|
|
|
|
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
|
|
|
|
NM_022464.5(SIL1):c.645+15C>T
|
|
|
|
NM_022489.4(INF2):c.1582C>G (p.Pro528Ala)
|
rs181694819
|
|
|
NM_022489.4(INF2):c.2065C>T (p.Arg689Trp)
|
|
|
|
NM_022489.4(INF2):c.2087C>T (p.Ala696Val)
|
|
|
|
NM_022489.4(INF2):c.2419-5T>C
|
|
|
|
NM_022489.4(INF2):c.2764C>T (p.Arg922Cys)
|
|
|
|
NM_022489.4(INF2):c.2788C>G (p.Arg930Gly)
|
rs764687744
|
|
|
NM_022489.4(INF2):c.2846C>T (p.Ala949Val)
|
rs912951002
|
|
|
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu)
|
rs767075044
|
|
|
NM_022489.4(INF2):c.3598G>A (p.Asp1200Asn)
|
rs764338863
|
|
|
NM_022489.4(INF2):c.3673C>G (p.Arg1225Gly)
|
|
|
|
NM_022489.4(INF2):c.3674G>A (p.Arg1225His)
|
|
|
|
NM_022489.4(INF2):c.917G>A (p.Arg306His)
|
|
|
|
NM_022725.4(FANCF):c.412C>A (p.Arg138Ser)
|
rs565372884
|
|
|
NM_022772.4(EPS8L2):c.1413G>A (p.Pro471=)
|
rs369906914
|
|
|
NM_022773.4(LMF1):c.1036A>G (p.Met346Val)
|
rs201767825
|
|
|
NM_022773.4(LMF1):c.1184C>T (p.Thr395Ile)
|
|
|
|
NM_022773.4(LMF1):c.176C>T (p.Ala59Val)
|
|
|
|
NM_022835.3(PLEKHG2):c.882+8del
|
rs571854709
|
|
|
NM_023067.4(FOXL2):c.672_674del (p.Ala234del)
|
rs779509486
|
|
|
NM_024079.5(ALG8):c.441A>T (p.Val147=)
|
rs112109685
|
|
|
NM_024101.7(MLPH):c.880+10del
|
rs758805619
|
|
|
NM_024101.7(MLPH):c.992G>A (p.Arg331Gln)
|
rs113169138
|
|
|
NM_024105.4(ALG12):c.1452C>T (p.Leu484=)
|
rs772352960
|
|
|
NM_024105.4(ALG12):c.470-12A>T
|
rs191669043
|
|
|
NM_024105.4(ALG12):c.48G>A (p.Leu16=)
|
rs143508665
|
|
|
NM_024105.4(ALG12):c.493C>T (p.Leu165=)
|
rs778040010
|
|
|
NM_024306.5(FA2H):c.762C>T (p.Phe254=)
|
rs797045569
|
|
|
NM_024312.5(GNPTAB):c.3707A>G (p.Lys1236Arg)
|
rs556318081
|
|
|
NM_024422.6(DSC2):c.1077+9A>G
|
rs369381870
|
|
|
NM_024422.6(DSC2):c.475-13A>G
|
rs751631188
|
|
|
NM_024422.6(DSC2):c.588T>C (p.Tyr196=)
|
rs1987518239
|
|
|
NM_024426.6(WT1):c.569C>T (p.Pro190Leu)
|
rs757349907
|
|
|
NM_024529.5(CDC73):c.834C>T (p.Pro278=)
|
rs886045714
|
|
|
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn)
|
rs548329168
|
|
|
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter)
|
rs572671721
|
|
|
NM_024596.5(MCPH1):c.216G>A (p.Ser72=)
|
rs775942126
|
|
|
NM_024596.5(MCPH1):c.433C>T (p.Leu145=)
|
rs139607465
|
|
|
NM_024608.4(NEIL1):c.314dup (p.Pro106fs)
|
rs556576971
|
|
|
NM_024640.4(YRDC):c.739G>A (p.Gly247Arg)
|
|
|
|
NM_024642.5(GALNT12):c.312C>T (p.Asn104=)
|
|
|
|
NM_024675.4(PALB2):c.1685-7T>G
|
rs1555460705
|
|
|
NM_024675.4(PALB2):c.2418G>T (p.Pro806=)
|
rs577076372
|
|
|
NM_024675.4(PALB2):c.243G>A (p.Lys81=)
|
rs1060502775
|
|
|
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)
|
rs201657283
|
|
|
NM_024675.4(PALB2):c.557A>T (p.Asn186Ile)
|
rs587782164
|
|
|
NM_024740.2(ALG9):c.125G>C (p.Arg42Pro)
|
rs781880611
|
|
|
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val)
|
rs766811699
|
|
|
NM_024757.5(EHMT1):c.216C>A (p.His72Gln)
|
rs374930132
|
|
|
NM_024757.5(EHMT1):c.2803G>A (p.Val935Met)
|
rs762121901
|
|
|
NM_024757.5(EHMT1):c.2839G>A (p.Ala947Thr)
|
rs797045555
|
|
|
NM_024757.5(EHMT1):c.324C>G (p.His108Gln)
|
rs574402576
|
|
|
NM_024757.5(EHMT1):c.3853G>C (p.Gly1285Arg)
|
|
|
|
NM_024915.4(GRHL2):c.1764-12C>G
|
rs371424751
|
|
|
NM_025000.4(DCAF17):c.231-8T>A
|
|
|
|
NM_025000.4(DCAF17):c.95A>C (p.Asn32Thr)
|
rs748586810
|
|
|
NM_025009.5(CEP135):c.1644_1646del (p.Ala549del)
|
rs776271846
|
|
|
NM_025009.5(CEP135):c.369A>G (p.Gln123=)
|
rs147451921
|
|
|
NM_025009.5(CEP135):c.998AAG[2] (p.Glu335del)
|
rs374626758
|
|
|
NM_025074.7(FRAS1):c.3514G>A (p.Asp1172Asn)
|
|
|
|
NM_025074.7(FRAS1):c.4365G>C (p.Ala1455=)
|
rs375417798
|
|
|
NM_025074.7(FRAS1):c.6009C>T (p.His2003=)
|
|
|
|
NM_025074.7(FRAS1):c.8283C>T (p.Ser2761=)
|
|
|
|
NM_025077.4(TOE1):c.-54G>T
|
rs540793556
|
|
|
NM_025099.6(CTC1):c.2060+12G>A
|
rs1987317835
|
|
|
NM_025099.6(CTC1):c.2253A>G (p.Gly751=)
|
rs1164794062
|
|
|
NM_025103.4(IFT74):c.173G>A (p.Gly58Asp)
|
|
|
|
NM_025114.4(CEP290):c.1624-5T>G
|
rs142742071
|
|
|
NM_025137.4(SPG11):c.1558C>T (p.Leu520Phe)
|
rs557277528
|
|
|
NM_025137.4(SPG11):c.3132C>G (p.Ala1044=)
|
rs770666794
|
|
|
NM_025137.4(SPG11):c.3138C>T (p.Asn1046=)
|
rs2083512162
|
|
|
NM_025137.4(SPG11):c.4052G>A (p.Arg1351Lys)
|
rs564171625
|
|
|
NM_025137.4(SPG11):c.4161+9C>G
|
rs1555451101
|
|
|
NM_025137.4(SPG11):c.4162-10T>C
|
rs765557765
|
|
|
NM_025137.4(SPG11):c.4162-4C>T
|
rs777010404
|
|
|
NM_025137.4(SPG11):c.437A>G (p.Asp146Gly)
|
rs182535774
|
|
|
NM_025137.4(SPG11):c.6007-6T>C
|
rs886051180
|
|
|
NM_025137.4(SPG11):c.60G>C (p.Ala20=)
|
rs544136842
|
|
|
NM_025137.4(SPG11):c.6283T>C (p.Leu2095=)
|
rs2082448894
|
|
|
NM_025137.4(SPG11):c.7000-8C>T
|
rs886051177
|
|
|
NM_025137.4(SPG11):c.7151+11A>C
|
rs779150349
|
|
|
NM_025137.4(SPG11):c.7152-6A>G
|
rs2082233766
|
|
|
NM_025144.4(ALPK1):c.3538+15G>A
|
|
|
|
NM_025207.5(FLAD1):c.503A>G (p.Asn168Ser)
|
rs150372864
|
|
|
NM_025243.4(SLC19A3):c.1204C>T (p.Arg402Cys)
|
rs150523975
|
|
|
NM_025243.4(SLC19A3):c.390G>T (p.Val130=)
|
rs376187918
|
|
|
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=)
|
rs138363524
|
|
|
NM_030665.4(RAI1):c.1054C>T (p.Arg352Cys)
|
rs907728820
|
|
|
NM_030665.4(RAI1):c.1606C>T (p.Arg536Cys)
|
rs149164900
|
|
|
NM_030665.4(RAI1):c.1616C>T (p.Pro539Leu)
|
rs2032158187
|
|
|
NM_030665.4(RAI1):c.1740G>T (p.Pro580=)
|
rs138768616
|
|
|
NM_030665.4(RAI1):c.1775G>A (p.Arg592Gln)
|
rs141808855
|
|
|
NM_030665.4(RAI1):c.2289C>T (p.Gly763=)
|
|
|
|
NM_030665.4(RAI1):c.2404_2406del (p.Lys802del)
|
rs779691871
|
|
|
NM_030665.4(RAI1):c.3270C>G (p.Ala1090=)
|
rs398124416
|
|
|
NM_030665.4(RAI1):c.3724C>T (p.Arg1242Trp)
|
|
|
|
NM_030665.4(RAI1):c.3725G>A (p.Arg1242Gln)
|
|
|
|
NM_030665.4(RAI1):c.3731GCA[5] (p.Ser1249del)
|
|
|
|
NM_030665.4(RAI1):c.3731GCA[7] (p.Ser1249dup)
|
rs760919336
|
|
|
NM_030665.4(RAI1):c.467A>G (p.Gln156Arg)
|
rs977107435
|
|
|
NM_030665.4(RAI1):c.5172G>T (p.Arg1724=)
|
rs766240657
|
|
|
NM_030665.4(RAI1):c.5517C>T (p.Ala1839=)
|
rs377747563
|
|
|
NM_030665.4(RAI1):c.834GCA[16] (p.Gln289_Gln291dup)
|
rs371983878
|
|
|
NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup)
|
rs371983878
|
|
|
NM_030665.4(RAI1):c.834GCA[20] (p.Gln285_Gln291dup)
|
rs371983878
|
|
|
NM_030665.4(RAI1):c.834GCA[5] (p.Gln284_Gln291del)
|
rs371983878
|
|
|
NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del)
|
rs371983878
|
|
|
NM_030665.4(RAI1):c.834GCA[7] (p.Gln286_Gln291del)
|
rs371983878
|
|
|
NM_030665.4(RAI1):c.849G>A (p.Gln283=)
|
rs886042730
|
|
|
NM_030665.4(RAI1):c.986G>A (p.Arg329Gln)
|
|
|
|
NM_030753.5(WNT3):c.309C>A (p.Pro103=)
|
rs749737942
|
|
|
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val)
|
rs200196034
|
|
|
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=)
|
rs748662135
|
|
|
NM_030787.4(CFHR5):c.254-2_266dup
|
rs781568341
|
|
|
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)
|
rs565457964
|
|
|
NM_030787.4(CFHR5):c.647A>G (p.Asn216Ser)
|
rs147488267
|
|
|
NM_030787.4(CFHR5):c.903T>C (p.Tyr301=)
|
rs886045751
|
|
|
NM_030787.4(CFHR5):c.993C>A (p.Cys331Ter)
|
rs751010317
|
|
|
NM_030957.4(ADAMTS10):c.1890G>A (p.Thr630=)
|
|
|
|
NM_031372.4(HNRNPDL):c.245G>T (p.Arg82Leu)
|
rs200595389
|
|
|
NM_031372.4(HNRNPDL):c.324_341del (p.Arg109_Ala114del)
|
rs760683509
|
|
|
NM_031372.4(HNRNPDL):c.92GGCCGC[3] (p.31RP[3])
|
rs1447722708
|
|
|
NM_031407.7(HUWE1):c.9920G>T (p.Gly3307Val)
|
|
|
|
NM_031433.4(MFRP):c.909G>C (p.Gly303=)
|
rs777996384
|
|
|
NM_031885.5(BBS2):c.118-16_118-13del
|
rs758674101
|
|
|
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)
|
rs542698396
|
|
|
NM_032043.3(BRIP1):c.485G>A (p.Arg162Gln)
|
rs61757643
|
|
|
NM_032043.3(BRIP1):c.93+8T>G
|
rs1567878012
|
|
|
NM_032119.4(ADGRV1):c.10997A>G (p.Glu3666Gly)
|
|
|
|
NM_032119.4(ADGRV1):c.11157C>A (p.Ile3719=)
|
rs762094907
|
|
|
NM_032119.4(ADGRV1):c.12506A>G (p.Tyr4169Cys)
|
rs577389548
|
|
|
NM_032119.4(ADGRV1):c.12632G>A (p.Arg4211Gln)
|
rs768374513
|
|
|
NM_032119.4(ADGRV1):c.13048T>C (p.Ser4350Pro)
|
|
|
|
NM_032119.4(ADGRV1):c.13130C>A (p.Pro4377His)
|
rs542081391
|
|
|
NM_032119.4(ADGRV1):c.13668A>G (p.Thr4556=)
|
rs758546069
|
|
|
NM_032119.4(ADGRV1):c.14432C>T (p.Pro4811Leu)
|
rs201747452
|
|
|
NM_032119.4(ADGRV1):c.14496C>A (p.Asp4832Glu)
|
rs753803615
|
|
|
NM_032119.4(ADGRV1):c.14719G>A (p.Val4907Ile)
|
rs373391623
|
|
|
NM_032119.4(ADGRV1):c.14928C>T (p.His4976=)
|
rs1251473317
|
|
|
NM_032119.4(ADGRV1):c.15293A>C (p.Glu5098Ala)
|
|
|
|
NM_032119.4(ADGRV1):c.15837C>A (p.Ile5279=)
|
rs765630970
|
|
|
NM_032119.4(ADGRV1):c.16248C>G (p.Val5416=)
|
rs3763073
|
|
|
NM_032119.4(ADGRV1):c.16249G>A (p.Val5417Ile)
|
rs375876245
|
|
|
NM_032119.4(ADGRV1):c.16999A>T (p.Met5667Leu)
|
rs201767389
|
|
|
NM_032119.4(ADGRV1):c.17987G>T (p.Trp5996Leu)
|
rs544077645
|
|
|
NM_032119.4(ADGRV1):c.18092T>C (p.Ile6031Thr)
|
|
|
|
NM_032119.4(ADGRV1):c.2106G>A (p.Val702=)
|
rs749630454
|
|
|
NM_032119.4(ADGRV1):c.2264T>C (p.Leu755Pro)
|
|
|
|
NM_032119.4(ADGRV1):c.2567A>G (p.Tyr856Cys)
|
rs558804189
|
|
|
NM_032119.4(ADGRV1):c.3222A>G (p.Ile1074Met)
|
rs751404994
|
|
|
NM_032119.4(ADGRV1):c.3978T>A (p.Asp1326Glu)
|
rs546224817
|
|
|
NM_032119.4(ADGRV1):c.5018G>C (p.Gly1673Ala)
|
|
|
|
NM_032119.4(ADGRV1):c.505C>T (p.Leu169Phe)
|
rs952062982
|
|
|
NM_032119.4(ADGRV1):c.5104C>T (p.Pro1702Ser)
|
rs535038304
|
|
|
NM_032119.4(ADGRV1):c.5155G>A (p.Ala1719Thr)
|
|
|
|
NM_032119.4(ADGRV1):c.5784C>T (p.Ser1928=)
|
rs199605700
|
|
|
NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr)
|
rs41302834
|
|
|
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His)
|
rs41303352
|
|
|
NM_032119.4(ADGRV1):c.600A>G (p.Pro200=)
|
rs776978539
|
|
|
NM_032119.4(ADGRV1):c.6290G>A (p.Arg2097His)
|
rs572910896
|
|
|
NM_032119.4(ADGRV1):c.7095G>A (p.Leu2365=)
|
rs794727564
|
|
|
NM_032119.4(ADGRV1):c.7150C>T (p.Arg2384Trp)
|
rs377475657
|
|
|
NM_032119.4(ADGRV1):c.7307T>G (p.Leu2436Arg)
|
|
|
|
NM_032119.4(ADGRV1):c.740C>T (p.Thr247Ile)
|
|
|
|
NM_032119.4(ADGRV1):c.8291C>G (p.Ser2764Trp)
|
rs16869016
|
|
|
NM_032119.4(ADGRV1):c.896A>G (p.Tyr299Cys)
|
|
|
|
NM_032119.4(ADGRV1):c.9261A>T (p.Arg3087Ser)
|
|
|
|
NM_032119.4(ADGRV1):c.9557C>A (p.Thr3186Asn)
|
rs201511311
|
|
|
NM_032119.4(ADGRV1):c.9896T>A (p.Ile3299Asn)
|
|
|
|
NM_032119.4(ADGRV1):c.9906+9C>T
|
|
|
|
NM_032193.4(RNASEH2C):c.468+8G>A
|
rs751767695
|
|
|
NM_032242.4(PLXNA1):c.1556C>T (p.Thr519Met)
|
|
|
|
NM_032242.4(PLXNA1):c.258G>A (p.Thr86=)
|
|
|
|
NM_032357.4(CCDC115):c.406C>G (p.Gln136Glu)
|
|
|
|
NM_032382.5(COG8):c.1413+12C>G
|
rs977274573
|
|
|
NM_032444.4(SLX4):c.1164-9G>A
|
rs2040686112
|
|
|
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn)
|
rs142205392
|
|
|
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)
|
rs137976282
|
|
|
NM_032444.4(SLX4):c.4485G>A (p.Ala1495=)
|
rs140872903
|
|
|
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser)
|
rs199592185
|
|
|
NM_032581.4(HYCC1):c.930T>G (p.Ser310=)
|
rs762598890
|
|
|
NM_032634.4(PIGO):c.1758C>T (p.Val586=)
|
rs144103228
|
|
|
NM_032634.4(PIGO):c.3141-9T>A
|
rs374227554
|
|
|
NM_032634.4(PIGO):c.387C>A (p.Thr129=)
|
rs765968784
|
|
|
NM_032856.5(WDR73):c.1132dup (p.Arg378fs)
|
rs747109506
|
|
|
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del)
|
rs754630732
|
|
|
NM_032888.4(COL27A1):c.1727G>T (p.Ser576Ile)
|
rs148019836
|
|
|
NM_032888.4(COL27A1):c.4120C>G (p.Leu1374Val)
|
rs150399981
|
|
|
NM_032977.4(CASP10):c.534A>G (p.Val178=)
|
rs146233833
|
|
|
NM_033004.4(NLRP1):c.3721G>A (p.Val1241Ile)
|
rs11653832
|
|
|
NM_033022.4(RPS24):c.280-11_280-10del
|
rs756756010
|
|
|
NM_033026.6(PCLO):c.6532C>T (p.Pro2178Ser)
|
rs201432429
|
|
|
NM_033028.5(BBS4):c.1451-6dup
|
rs770389663
|
|
|
NM_033056.4(PCDH15):c.4902del (p.Glu1635fs)
|
|
|
|
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs)
|
rs1491209806
|
|
|
NM_033056.4(PCDH15):c.5100_5101dup (p.Ser1701fs)
|
rs918473867
|
|
|
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)
|
rs397517462
|
|
|
NM_033056.4(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del)
|
rs397517463
|
|
|
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])
|
rs397517465
|
|
|
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del)
|
rs397517467
|
|
|
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs)
|
rs1338600699
|
|
|
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1])
|
rs779691085
|
|
|
NM_033056.4(PCDH15):c.5486del (p.Pro1829fs)
|
rs1564532058
|
|
|
NM_033056.4(PCDH15):c.5630_5633del (p.Arg1877fs)
|
rs794727570
|
|
|
NM_033056.4(PCDH15):c.5721_5724del (p.Leu1908fs)
|
rs568470164
|
|
|
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs)
|
rs568470164
|
|
|
NM_033100.4(CDHR1):c.152-12_152-11del
|
rs767478332
|
|
|
NM_033100.4(CDHR1):c.159C>T (p.His53=)
|
rs12781048
|
|
|
NM_033109.5(PNPT1):c.1563G>A (p.Lys521=)
|
rs863224169
|
|
|
NM_033109.5(PNPT1):c.2148+8G>C
|
|
|
|
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=)
|
rs782279681
|
|
|
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=)
|
rs587680396
|
|
|
NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp)
|
rs587774476
|
|
|
NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup)
|
rs762175290
|
|
|
NM_033343.4(LHX4):c.724_726del (p.Lys242del)
|
rs771109452
|
|
|
NM_033380.3(COL4A5):c.639A>G (p.Gly213=)
|
rs2147770243
|
|
|
NM_052813.5(CARD9):c.1090C>A (p.Arg364=)
|
rs151211588
|
|
|
NM_052813.5(CARD9):c.1104C>T (p.His368=)
|
rs145052557
|
|
|
NM_052813.5(CARD9):c.1312-13CT[2]
|
rs770532797
|
|
|
NM_052813.5(CARD9):c.1434+1G>C
|
rs141992399
|
|
|
NM_052845.4(MMAB):c.378G>A (p.Ser126=)
|
rs749452007
|
|
|
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
|
rs757562796
|
|
|
NM_052845.4(MMAB):c.57C>T (p.Arg19=)
|
rs10774774
|
|
|
NM_052859.4(RFT1):c.477G>C (p.Ser159=)
|
rs750521781
|
|
|
NM_052865.4(MGME1):c.842A>G (p.His281Arg)
|
|
|
|
NM_052867.4(NALCN):c.3852C>A (p.Gly1284=)
|
rs772803115
|
|
|
NM_052867.4(NALCN):c.4977C>G (p.Asp1659Glu)
|
rs78817184
|
|
|
NM_052867.4(NALCN):c.5127G>A (p.Ala1709=)
|
rs111638537
|
|
|
NM_052872.4(IL17F):c.456C>T (p.Cys152=)
|
rs1345707985
|
|
|
NM_052945.4(TNFRSF13C):c.255G>C (p.Leu85=)
|
rs544076556
|
|
|
NM_052989.3(IFT122):c.132C>G (p.Thr44=)
|
rs371772807
|
|
|
NM_052989.3(IFT122):c.2181C>T (p.Thr727=)
|
rs545131069
|
|
|
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys)
|
rs138172035
|
|
|
NM_053025.4(MYLK):c.2760C>G (p.Ala920=)
|
rs368080781
|
|
|
NM_053025.4(MYLK):c.3024G>A (p.Val1008=)
|
rs886057860
|
|
|
NM_053025.4(MYLK):c.3832-8G>C
|
rs202218458
|
|
|
NM_053025.4(MYLK):c.999G>T (p.Pro333=)
|
rs13319347
|
|
|
NM_058216.3(RAD51C):c.404+13G>A
|
rs547506164
|
|
|
NM_058216.3(RAD51C):c.87T>C (p.Ser29=)
|
rs786203249
|
|
|
NM_080424.4(SP110):c.2029-7_2029-6del
|
rs773164340
|
|
|
NM_080424.4(SP110):c.829+15T>C
|
rs372230531
|
|
|
NM_080680.3(COL11A2):c.1063C>T (p.Arg355Cys)
|
rs774410925
|
|
|
NM_080680.3(COL11A2):c.1180-4A>G
|
rs1554221961
|
|
|
NM_080680.3(COL11A2):c.1427C>T (p.Ala476Val)
|
rs373983482
|
|
|
NM_080680.3(COL11A2):c.1442C>T (p.Ala481Val)
|
|
|
|
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln)
|
rs199866657
|
|
|
NM_080680.3(COL11A2):c.1637G>T (p.Arg546Leu)
|
|
|
|
NM_080680.3(COL11A2):c.2033C>A (p.Pro678Gln)
|
|
|
|
NM_080680.3(COL11A2):c.2065C>T (p.Pro689Ser)
|
rs766440021
|
|
|
NM_080680.3(COL11A2):c.2220G>T (p.Glu740Asp)
|
rs202032297
|
|
|
NM_080680.3(COL11A2):c.2647G>A (p.Gly883Ser)
|
|
|
|
NM_080680.3(COL11A2):c.2843C>A (p.Pro948Gln)
|
|
|
|
NM_080680.3(COL11A2):c.2843C>T (p.Pro948Leu)
|
rs779187034
|
|
|
NM_080680.3(COL11A2):c.3343C>A (p.Pro1115Thr)
|
rs372806452
|
|
|
NM_080680.3(COL11A2):c.3554G>A (p.Arg1185Gln)
|
rs771004504
|
|
|
NM_080680.3(COL11A2):c.3554G>C (p.Arg1185Pro)
|
rs771004504
|
|
|
NM_080680.3(COL11A2):c.361C>T (p.Arg121Cys)
|
rs553025178
|
|
|
NM_080680.3(COL11A2):c.3622C>T (p.Pro1208Ser)
|
rs374515005
|
|
|
NM_080680.3(COL11A2):c.3698G>A (p.Arg1233His)
|
|
|
|
NM_080680.3(COL11A2):c.3749C>T (p.Pro1250Leu)
|
|
|
|
NM_080680.3(COL11A2):c.3830C>A (p.Pro1277His)
|
rs777156156
|
|
|
NM_080680.3(COL11A2):c.3830C>G (p.Pro1277Arg)
|
rs777156156
|
|
|
NM_080680.3(COL11A2):c.3961-7C>A
|
rs1361986900
|
|
|
NM_080680.3(COL11A2):c.3992G>A (p.Arg1331Gln)
|
rs146082418
|
|
|
NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu)
|
rs142890313
|
|
|
NM_080680.3(COL11A2):c.4344C>G (p.Ile1448Met)
|
rs554269032
|
|
|
NM_080680.3(COL11A2):c.4395A>G (p.Gly1465=)
|
|
|
|
NM_080680.3(COL11A2):c.4767C>T (p.Asp1589=)
|
rs886044178
|
|
|
NM_080680.3(COL11A2):c.4786C>T (p.Arg1596Trp)
|
rs778962979
|
|
|
NM_080680.3(COL11A2):c.4933G>A (p.Val1645Ile)
|
rs556677734
|
|
|
NM_080680.3(COL11A2):c.939+8T>C
|
rs1554223902
|
|
|
NM_080911.3(UNG):c.204C>G (p.Ala68=)
|
rs777436497
|
|
|
NM_080911.3(UNG):c.435+15T>A
|
rs765672149
|
|
|
NM_080911.3(UNG):c.825G>A (p.Thr275=)
|
rs765151419
|
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
|
NM_130837.3(OPA1):c.1590T>A (p.Asn530Lys)
|
rs863224137
|
|
|
NM_130837.3(OPA1):c.1838A>C (p.Glu613Ala)
|
rs949979832
|
|
|
NM_130837.3(OPA1):c.1935+17C>T
|
|
|
|
NM_130837.3(OPA1):c.1996G>A (p.Val666Ile)
|
rs200756304
|
|
|
NM_130837.3(OPA1):c.2441-4C>G
|
rs763386320
|
|
|
NM_130837.3(OPA1):c.2873-10C>G
|
rs2109277041
|
|
|
NM_130837.3(OPA1):c.442G>A (p.Asp148Asn)
|
|
|
|
NM_130837.3(OPA1):c.696C>T (p.Leu232=)
|
rs375209295
|
|
|
NM_130837.3(OPA1):c.712C>G (p.Gln238Glu)
|
rs1131691832
|
|
|
NM_130837.3(OPA1):c.785G>A (p.Arg262His)
|
rs201202646
|
|
|
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=)
|
rs1057523671
|
|
|
NM_130839.5(UBE3A):c.2124+19T>G
|
rs587782925
|
|
|
NM_130839.5(UBE3A):c.62+20G>A
|
rs587782906
|
|
|
NM_130839.5(UBE3A):c.63-19_63-17del
|
rs587782921
|
|
|
NM_133261.3(GIPC3):c.679G>T (p.Gly227Trp)
|
rs202075236
|
|
|
NM_133261.3(GIPC3):c.855C>G (p.Ser285=)
|
rs766192644
|
|
|
NM_133433.4(NIPBL):c.6108+7A>G
|
rs587783995
|
|
|
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=)
|
rs777430704
|
|
|
NM_133642.5(LARGE1):c.909T>G (p.Leu303=)
|
rs563144239
|
|
|
NM_138295.5(PKD1L1):c.3158G>A (p.Arg1053His)
|
rs10274334
|
|
|
NM_138295.5(PKD1L1):c.603G>A (p.Ala201=)
|
|
|
|
NM_138387.4(G6PC3):c.417-14T>C
|
rs2050055854
|
|
|
NM_138576.4(BCL11B):c.1032C>G (p.Ala344=)
|
rs1011254015
|
|
|
NM_138576.4(BCL11B):c.1482C>T (p.Ala494=)
|
|
|
|
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)
|
rs372394177
|
|
|
NM_138694.4(PKHD1):c.10536A>G (p.Glu3512=)
|
rs1581893486
|
|
|
NM_138694.4(PKHD1):c.10883C>T (p.Thr3628Ile)
|
rs147700643
|
|
|
NM_138694.4(PKHD1):c.11901G>A (p.Val3967=)
|
rs751385266
|
|
|
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile)
|
rs138672830
|
|
|
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser)
|
rs141790557
|
|
|
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr)
|
rs781485593
|
|
|
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=)
|
rs9474136
|
|
|
NM_138694.4(PKHD1):c.281+13G>A
|
rs1812167147
|
|
|
NM_138694.4(PKHD1):c.3072G>A (p.Val1024=)
|
rs1581909859
|
|
|
NM_138694.4(PKHD1):c.3645C>T (p.Ser1215=)
|
rs1581815094
|
|
|
NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=)
|
rs1373102999
|
|
|
NM_138694.4(PKHD1):c.402G>A (p.Ala134=)
|
rs200992930
|
|
|
NM_138694.4(PKHD1):c.4161G>C (p.Val1387=)
|
rs1802043497
|
|
|
NM_138694.4(PKHD1):c.449-6A>T
|
rs200204976
|
|
|
NM_138694.4(PKHD1):c.5133C>G (p.Ala1711=)
|
rs144841026
|
|
|
NM_138694.4(PKHD1):c.534G>A (p.Val178=)
|
rs1226545035
|
|
|
NM_138694.4(PKHD1):c.5478G>C (p.Ala1826=)
|
rs137925439
|
|
|
NM_138694.4(PKHD1):c.6149G>C (p.Cys2050Ser)
|
rs551783157
|
|
|
NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg)
|
rs778124617
|
|
|
NM_138694.4(PKHD1):c.6756G>A (p.Leu2252=)
|
rs368194577
|
|
|
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=)
|
rs373795139
|
|
|
NM_138694.4(PKHD1):c.7173G>C (p.Leu2391=)
|
rs765985090
|
|
|
NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=)
|
rs779757789
|
|
|
NM_138694.4(PKHD1):c.7866C>T (p.Thr2622=)
|
rs752563887
|
|
|
NM_138694.4(PKHD1):c.888A>G (p.Pro296=)
|
rs76012218
|
|
|
NM_138694.4(PKHD1):c.904G>A (p.Val302Met)
|
rs779418460
|
|
|
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)
|
rs745523374
|
|
|
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)
|
rs759568939
|
|
|
NM_138711.6(PPARG):c.43A>T (p.Ile15Phe)
|
|
|
|
NM_138927.4(SON):c.2098T>C (p.Ser700Pro)
|
|
|
|
NM_138927.4(SON):c.5943_5963del (p.1957SRTPSRR[5])
|
rs766784590
|
|
|
NM_138927.4(SON):c.78-9C>T
|
|
|
|
NM_139027.6(ADAMTS13):c.1109G>A (p.Arg370His)
|
|
|
|
NM_139027.6(ADAMTS13):c.3571C>T (p.Arg1191Trp)
|
|
|
|
NM_139076.3(ABRAXAS1):c.7G>C (p.Gly3Arg)
|
rs370520589
|
|
|
NM_139076.3(ABRAXAS1):c.88-7T>C
|
|
|
|
NM_139242.4(MTFMT):c.9G>A (p.Val3=)
|
|
|
|
NM_139319.3(SLC17A8):c.1426-18C>A
|
|
|
|
NM_139343.3(BIN1):c.1264-11_1270del
|
rs776737413
|
|
|
NM_139343.3(BIN1):c.1395G>C (p.Ala465=)
|
rs765870974
|
|
|
NM_139343.3(BIN1):c.1515C>G (p.Thr505=)
|
rs375583449
|
|
|
NM_139343.3(BIN1):c.168G>A (p.Thr56=)
|
rs528828320
|
|
|
NM_144639.3(UROC1):c.709G>C (p.Glu237Gln)
|
rs150437149
|
|
|
NM_144666.3(DNHD1):c.4041C>A (p.Ser1347Arg)
|
rs189772244
|
|
|
NM_144670.6(A2ML1):c.3108-11T>C
|
|
|
|
NM_144670.6(A2ML1):c.4061+16G>A
|
rs200962359
|
|
|
NM_144670.6(A2ML1):c.63-6del
|
rs1463624612
|
|
|
NM_144672.4(OTOA):c.57A>T (p.Gly19=)
|
rs749912295
|
|
|
NM_144687.4(NLRP12):c.2046A>G (p.Ala682=)
|
rs886054608
|
|
|
NM_144687.4(NLRP12):c.2754G>A (p.Leu918=)
|
rs61741347
|
|
|
NM_144997.7(FLCN):c.1482C>T (p.Asn494=)
|
rs1597578831
|
|
|
NM_144997.7(FLCN):c.250-7T>C
|
rs748857550
|
|
|
NM_144997.7(FLCN):c.779+6G>A
|
rs778530618
|
|
|
NM_147196.3(TMIE):c.367AAG[6] (p.Lys129_Lys131del)
|
rs10578999
|
|
|
NM_148897.3(SDR9C7):c.718C>T (p.Arg240Cys)
|
|
|
|
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=)
|
rs782312004
|
|
|
NM_152296.5(ATP1A3):c.15A>G (p.Lys5=)
|
rs886054476
|
|
|
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=)
|
rs782539594
|
|
|
NM_152383.5(DIS3L2):c.1836G>A (p.Pro612=)
|
rs202227137
|
|
|
NM_152383.5(DIS3L2):c.2395-13G>T
|
rs374738789
|
|
|
NM_152383.5(DIS3L2):c.2497-14T>C
|
rs1283433476
|
|
|
NM_152383.5(DIS3L2):c.780A>G (p.Glu260=)
|
rs2106355380
|
|
|
NM_152383.5(DIS3L2):c.951-8A>G
|
rs886055770
|
|
|
NM_152424.4(AMER1):c.205C>A (p.Leu69Met)
|
|
|
|
NM_152564.5(VPS13B):c.10011C>G (p.Ile3337Met)
|
rs542986432
|
|
|
NM_152564.5(VPS13B):c.10065G>A (p.Ala3355=)
|
rs61753726
|
|
|
NM_152564.5(VPS13B):c.10129C>T (p.Leu3377Phe)
|
rs535553836
|
|
|
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=)
|
rs375229257
|
|
|
NM_152564.5(VPS13B):c.11244G>C (p.Pro3748=)
|
rs375229257
|
|
|
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup)
|
rs386834068
|
|
|
NM_152564.5(VPS13B):c.1371T>G (p.Leu457=)
|
rs1810005490
|
|
|
NM_152564.5(VPS13B):c.2048A>T (p.Gln683Leu)
|
rs372585253
|
|
|
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=)
|
rs540795071
|
|
|
NM_152564.5(VPS13B):c.3742C>G (p.Leu1248Val)
|
rs562686924
|
|
|
NM_152564.5(VPS13B):c.4224+556A>G
|
rs1554824890
|
|
|
NM_152564.5(VPS13B):c.4746-13G>A
|
rs561446691
|
|
|
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser)
|
rs563705133
|
|
|
NM_152564.5(VPS13B):c.5502G>T (p.Ser1834=)
|
rs143115716
|
|
|
NM_152564.5(VPS13B):c.5528A>T (p.Glu1843Val)
|
rs141211386
|
|
|
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln)
|
rs150272676
|
|
|
NM_152564.5(VPS13B):c.5908+14A>C
|
rs886062543
|
|
|
NM_152564.5(VPS13B):c.6672A>G (p.Gln2224=)
|
rs2130339813
|
|
|
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=)
|
rs751190453
|
|
|
NM_152564.5(VPS13B):c.874T>G (p.Phe292Val)
|
rs779095081
|
|
|
NM_152703.5(SAMD9L):c.2037T>G (p.Phe679Leu)
|
rs188902048
|
|
|
NM_152703.5(SAMD9L):c.4718T>A (p.Ile1573Asn)
|
rs371764964
|
|
|
NM_153006.3(NAGS):c.630C>T (p.Asn210=)
|
rs2049080644
|
|
|
NM_153006.3(NAGS):c.681C>G (p.Ala227=)
|
rs886052982
|
|
|
NM_153006.3(NAGS):c.807C>T (p.Ser269=)
|
rs767368629
|
|
|
NM_153033.5(KCTD7):c.291C>T (p.Ile97=)
|
rs769023482
|
|
|
NM_153240.5(NPHP3):c.1525-5del
|
rs762115717
|
|
|
NM_153240.5(NPHP3):c.171C>A (p.Pro57=)
|
rs778581370
|
|
|
NM_153603.4(COG7):c.1005C>T (p.His335=)
|
rs532636981
|
|
|
NM_153603.4(COG7):c.1305T>C (p.Asp435=)
|
rs1019861391
|
|
|
NM_153638.4(PANK2):c.54A>G (p.Ser18=)
|
rs886056650
|
|
|
NM_153676.4(USH1C):c.1801C>A (p.Pro601Thr)
|
rs727503710
|
|
|
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)
|
rs41282932
|
|
|
NM_153676.4(USH1C):c.1831G>T (p.Val611Phe)
|
rs560416690
|
|
|
NM_153816.6(SNX14):c.1075G>T (p.Ala359Ser)
|
rs146849758
|
|
|
NM_170606.3(KMT2C):c.11225G>C (p.Ser3742Thr)
|
|
|
|
NM_170606.3(KMT2C):c.12151A>G (p.Arg4051Gly)
|
|
|
|
NM_170606.3(KMT2C):c.1402C>G (p.Pro468Ala)
|
rs140919432
|
|
|
NM_170606.3(KMT2C):c.3283A>G (p.Arg1095Gly)
|
rs760716705
|
|
|
NM_170606.3(KMT2C):c.7133C>G (p.Thr2378Arg)
|
|
|
|
NM_170754.4(TNS2):c.1213G>A (p.Glu405Lys)
|
|
|
|
NM_172201.2(KCNE2):c.*11A>C
|
rs558860396
|
|
|
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)
|
rs148404005
|
|
|
NM_172362.3(KCNH1):c.2414C>T (p.Thr805Ile)
|
|
|
|
NM_172362.3(KCNH1):c.2500C>T (p.Arg834Cys)
|
rs1363207852
|
|
|
NM_172362.3(KCNH1):c.2962G>T (p.Ala988Ser)
|
rs371262198
|
|
|
NM_172364.5(CACNA2D4):c.2046C>T (p.Ala682=)
|
rs116214586
|
|
|
NM_173076.3(ABCA12):c.2638G>C (p.Val880Leu)
|
rs146002078
|
|
|
NM_173076.3(ABCA12):c.746T>C (p.Met249Thr)
|
|
|
|
NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr)
|
rs769962713
|
|
|
NM_173354.5(SIK1):c.1538C>T (p.Ala513Val)
|
rs200402559
|
|
|
NM_173354.5(SIK1):c.468G>A (p.Leu156=)
|
rs2081056659
|
|
|
NM_173500.4(TTBK2):c.3081A>G (p.Thr1027=)
|
rs911630565
|
|
|
NM_173689.7(CRB2):c.1829G>T (p.Arg610Leu)
|
rs144365725
|
|
|
NM_173689.7(CRB2):c.3373G>T (p.Gly1125Trp)
|
rs543547663
|
|
|
NM_173689.7(CRB2):c.3699CCT[7] (p.Leu1239dup)
|
rs767432277
|
|
|
NM_173689.7(CRB2):c.471C>G (p.His157Gln)
|
rs113157023
|
|
|
NM_173689.7(CRB2):c.883G>A (p.Ala295Thr)
|
rs74778545
|
|
|
NM_174889.5(NDUFAF2):c.491del (p.Gly164fs)
|
rs753595274
|
|
|
NM_174916.3(UBR1):c.2190+20T>C
|
rs2141316539
|
|
|
NM_174916.3(UBR1):c.3998-7_3998-5del
|
|
|
|
NM_174916.3(UBR1):c.752G>T (p.Cys251Phe)
|
|
|
|
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His)
|
rs141867978
|
|
|
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
|
|
|
|
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu)
|
rs569379713
|
|
|
NM_175737.4(KLB):c.2329_2331del (p.Phe777del)
|
rs549659598
|
|
|
NM_175875.5(SIX5):c.1872C>T (p.Pro624=)
|
rs373614429
|
|
|
NM_175875.5(SIX5):c.246G>A (p.Thr82=)
|
|
|
|
NM_177438.3(DICER1):c.1080A>G (p.Glu360=)
|
rs886050943
|
|
|
NM_177438.3(DICER1):c.1089C>T (p.Phe363=)
|
rs878855239
|
|
|
NM_177438.3(DICER1):c.3690G>A (p.Gln1230=)
|
rs1555369473
|
|
|
NM_177438.3(DICER1):c.4795C>T (p.Arg1599Trp)
|
rs587778230
|
|
|
NM_177924.5(ASAH1):c.126-7A>G
|
rs771021569
|
|
|
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)
|
rs145844329
|
|
|
NM_178335.3(CCDC50):c.33G>A (p.Leu11=)
|
|
|
|
NM_181426.2(CCDC39):c.654T>C (p.Asn218=)
|
rs886058199
|
|
|
NM_182760.4(SUMF1):c.16C>T (p.Leu6=)
|
rs774160105
|
|
|
NM_182760.4(SUMF1):c.177C>T (p.Gly59=)
|
rs774739457
|
|
|
NM_182760.4(SUMF1):c.955-6C>G
|
rs886058518
|
|
|
NM_182894.3(VSX2):c.760+11G>A
|
rs777886580
|
|
|
NM_182894.3(VSX2):c.777G>T (p.Ser259=)
|
rs371707151
|
|
|
NM_182894.3(VSX2):c.810C>G (p.Pro270=)
|
rs759166720
|
|
|
NM_182914.3(SYNE2):c.16328AAG[1] (p.Glu5444del)
|
rs751691446
|
|
|
NM_182914.3(SYNE2):c.17784G>A (p.Glu5928=)
|
rs572217007
|
|
|
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr)
|
rs182079744
|
|
|
NM_182914.3(SYNE2):c.19275G>T (p.Val6425=)
|
rs772092387
|
|
|
NM_182914.3(SYNE2):c.20033G>C (p.Gly6678Ala)
|
rs140676416
|
|
|
NM_182914.3(SYNE2):c.2498C>G (p.Ala833Gly)
|
rs200503488
|
|
|
NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp)
|
rs370800852
|
|
|
NM_182914.3(SYNE2):c.4398-11T>A
|
rs2096801796
|
|
|
NM_182919.4(TICAM1):c.11_12inv (p.Thr4Met)
|
|
|
|
NM_182931.3(KMT2E):c.5153C>T (p.Pro1718Leu)
|
rs1799386566
|
|
|
NM_182931.3(KMT2E):c.5555dup (p.Tyr1852Ter)
|
|
|
|
NM_182961.4(SYNE1):c.10503A>G (p.Leu3501=)
|
rs1563330296
|
|
|
NM_182961.4(SYNE1):c.581+10A>G
|
rs771573516
|
|
|
NM_182972.3(IRF2BP2):c.864C>T (p.Gly288=)
|
rs768782125
|
|
|
NM_183065.4(TMEM107):c.*656G>A
|
rs148909909
|
|
|
NM_183075.3(CYP2U1):c.5C>T (p.Ser2Leu)
|
rs550088634
|
|
|
NM_183075.3(CYP2U1):c.869T>C (p.Ile290Thr)
|
rs761095930
|
|
|
NM_183357.3(ADCY5):c.2272GAC[1] (p.Asp759del)
|
rs780518999
|
|
|
NM_183357.3(ADCY5):c.2890G>T (p.Ala964Ser)
|
|
|
|
NM_183357.3(ADCY5):c.30G>A (p.Pro10=)
|
|
|
|
NM_183357.3(ADCY5):c.982G>A (p.Gly328Ser)
|
rs749154761
|
|
|
NM_194248.3(OTOF):c.1553G>T (p.Arg518Leu)
|
rs150090360
|
|
|
NM_194248.3(OTOF):c.2436G>A (p.Leu812=)
|
rs2148051340
|
|
|
NM_194248.3(OTOF):c.2457C>T (p.His819=)
|
|
|
|
NM_194248.3(OTOF):c.2765G>T (p.Arg922Leu)
|
|
|
|
NM_194248.3(OTOF):c.3720C>T (p.Ser1240=)
|
|
|
|
NM_194248.3(OTOF):c.4417G>A (p.Gly1473Ser)
|
|
|
|
NM_194248.3(OTOF):c.481C>T (p.Arg161Trp)
|
rs377378925
|
|
|
NM_194248.3(OTOF):c.5193-3del
|
|
|
|
NM_194248.3(OTOF):c.5475C>A (p.Pro1825=)
|
rs760178516
|
|
|
NM_194248.3(OTOF):c.5479C>A (p.Arg1827=)
|
rs142748621
|
|
|
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp)
|
rs142748621
|
|
|
NM_194454.3(KRIT1):c.1377A>G (p.Gln459=)
|
|
|
|
NM_194454.3(KRIT1):c.845+10C>G
|
rs372125478
|
|
|
NM_198075.4(LRRC56):c.591G>A (p.Val197=)
|
|
|
|
NM_198271.5(LMOD3):c.788T>C (p.Ile263Thr)
|
rs9835034
|
|
|
NM_198334.3(GANAB):c.253-4G>T
|
rs202154028
|
|
|
NM_198525.3(KIF7):c.2059C>A (p.Arg687=)
|
rs138736028
|
|
|
NM_198525.3(KIF7):c.2079C>T (p.Val693=)
|
rs113112856
|
|
|
NM_198525.3(KIF7):c.2337G>A (p.Glu779=)
|
rs202089770
|
|
|
NM_198525.3(KIF7):c.2421G>A (p.Thr807=)
|
rs141497185
|
|
|
NM_198525.3(KIF7):c.3319-13G>A
|
rs371154050
|
|
|
NM_198525.3(KIF7):c.3519C>T (p.Asp1173=)
|
rs778389919
|
|
|
NM_198525.3(KIF7):c.418C>T (p.Leu140=)
|
rs756117745
|
|
|
NM_198525.3(KIF7):c.960G>A (p.Thr320=)
|
rs886051538
|
|
|
NM_198576.4(AGRN):c.4779_4793del (p.Gln1593_Cys1597del)
|
rs769494139
|
|
|
NM_198578.4(LRRK2):c.4883G>A (p.Arg1628His)
|
rs33949390
|
|
|
NM_198578.4(LRRK2):c.606C>T (p.Asn202=)
|
rs199854074
|
|
|
NM_198578.4(LRRK2):c.7296C>G (p.Gly2432=)
|
rs199964631
|
|
|
NM_198586.3(NHLRC1):c.195C>A (p.Ala65=)
|
rs370573413
|
|
|
NM_198904.4(GABRG2):c.1425G>A (p.Leu475=)
|
rs886060383
|
|
|
NM_198904.4(GABRG2):c.402C>G (p.Val134=)
|
rs562384157
|
|
|
NM_198994.3(TGM6):c.1431G>A (p.Gly477=)
|
rs373549904
|
|
|
NM_198994.3(TGM6):c.1678+9A>T
|
|
|
|
NM_199242.3(UNC13D):c.147C>G (p.Pro49=)
|
rs749672259
|
|
|
NM_199242.3(UNC13D):c.147C>T (p.Pro49=)
|
rs749672259
|
|
|
NM_199242.3(UNC13D):c.1758C>T (p.His586=)
|
rs759891490
|
|
|
NM_199242.3(UNC13D):c.629T>G (p.Val210Gly)
|
rs553365957
|
|
|
NM_201253.3(CRB1):c.3213C>T (p.Leu1071=)
|
rs2125499764
|
|
|
NM_201253.3(CRB1):c.4029C>T (p.Asp1343=)
|
rs780087216
|
|
|
NM_201384.3(PLEC):c.6573G>A (p.Leu2191=)
|
rs1564019780
|
|
|
NM_201525.4(ADGRG1):c.2040C>G (p.Gly680=)
|
rs794727146
|
|
|
NM_201525.4(ADGRG1):c.412A>C (p.Thr138Pro)
|
rs560954695
|
|
|
NM_201596.3(CACNB2):c.1688G>A (p.Arg563Gln)
|
rs766377211
|
|
|
NM_203446.3(SYNJ1):c.384T>C (p.Phe128=)
|
rs746811167
|
|
|
NM_203486.3(DLL3):c.982G>T (p.Val328Phe)
|
rs749513254
|
|
|
NM_206933.4(USH2A):c.10388-17_10388-7del
|
rs1442627890
|
|
|
NM_206933.4(USH2A):c.10413A>G (p.Thr3471=)
|
rs530322386
|
|
|
NM_206933.4(USH2A):c.13198G>T (p.Ala4400Ser)
|
rs541022183
|
|
|
NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly)
|
rs553956503
|
|
|
NM_206933.4(USH2A):c.15306C>G (p.Ala5102=)
|
rs149506333
|
|
|
NM_206933.4(USH2A):c.1799G>C (p.Gly600Ala)
|
rs772955674
|
|
|
NM_206933.4(USH2A):c.1891G>A (p.Asp631Asn)
|
rs552400144
|
|
|
NM_206933.4(USH2A):c.2835C>T (p.Ala945=)
|
rs1311224729
|
|
|
NM_206933.4(USH2A):c.2880T>C (p.Asn960=)
|
rs151177516
|
|
|
NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val)
|
rs150729680
|
|
|
NM_206933.4(USH2A):c.3812-3_3837dup
|
rs780071028
|
|
|
NM_206933.4(USH2A):c.4252-36CTTT[7]
|
rs372388546
|
|
|
NM_206933.4(USH2A):c.4383A>G (p.Gln1461=)
|
rs978359064
|
|
|
NM_206933.4(USH2A):c.5891G>A (p.Arg1964His)
|
rs149465057
|
|
|
NM_206933.4(USH2A):c.6094C>T (p.Leu2032=)
|
rs1385829693
|
|
|
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)
|
rs542406401
|
|
|
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu)
|
rs138959688
|
|
|
NM_206933.4(USH2A):c.7527G>T (p.Arg2509=)
|
rs575939496
|
|
|
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=)
|
rs397518040
|
|
|
NM_206933.4(USH2A):c.8778G>A (p.Glu2926=)
|
rs374146074
|
|
|
NM_206933.4(USH2A):c.9958+8G>T
|
rs370383574
|
|
|
NM_206965.2(FTCD):c.1540-17_1540-16del
|
rs747091513
|
|
|
NM_207122.2(EXT2):c.198G>C (p.Val66=)
|
rs775542605
|
|
|
NM_207346.3(TSEN54):c.315A>T (p.Ser105=)
|
|
|
|
NM_207346.3(TSEN54):c.370-9C>T
|
rs797046056
|
|
|
NM_207361.6(FREM2):c.7329T>A (p.Pro2443=)
|
rs1303270704
|
|
|
NM_207361.6(FREM2):c.850G>C (p.Val284Leu)
|
rs770004356
|
|
|
NM_207361.6(FREM2):c.87GCT[8] (p.Leu38_Ser39insLeu)
|
|
|
|
NM_212482.4(FN1):c.74G>A (p.Gly25Glu)
|
|
|
|
NM_213655.5(WNK1):c.2172dup (p.Pro725fs)
|
rs910119961
|
|
|
NM_213720.3(CHCHD10):c.42-5C>T
|
rs868345557
|
|