NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu)
|
rs61752479
|
0.08857
|
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
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_006059.4(LAMC3):c.-2C>T
|
rs137883250
|
0.01424
|
NM_001271696.3(ABCB7):c.246+1G>A
|
rs61323727
|
0.01077
|
NM_130797.4(DPP6):c.227A>T (p.Asp76Val)
|
rs572667303
|
0.01073
|
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=)
|
rs78926093
|
0.00784
|
NM_152879.3(DGKD):c.2925G>A (p.Glu975=)
|
rs147134923
|
0.00614
|
NM_032520.5(GNPTG):c.255G>A (p.Pro85=)
|
rs76594024
|
0.00606
|
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser)
|
rs115681466
|
0.00535
|
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser)
|
rs41312157
|
0.00531
|
NM_003172.4(SURF1):c.604G>C (p.Asp202His)
|
rs72619327
|
0.00517
|
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=)
|
rs45559331
|
0.00516
|
NM_198576.4(AGRN):c.5201G>A (p.Arg1734His)
|
rs145444272
|
0.00493
|
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)
|
rs61749417
|
0.00491
|
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter)
|
rs35064500
|
0.00470
|
NM_004826.4(ECEL1):c.155T>C (p.Leu52Pro)
|
rs564717204
|
0.00453
|
NM_002294.3(LAMP2):c.1093+2514G>A
|
rs144140265
|
0.00404
|
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
|
rs16955851
|
0.00404
|
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser)
|
rs137876961
|
0.00404
|
NM_005589.4(ALDH6A1):c.755C>T (p.Pro252Leu)
|
rs139579994
|
0.00398
|
NM_006899.5(IDH3B):c.117+6C>A
|
rs191680997
|
0.00388
|
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter)
|
rs182004761
|
0.00376
|
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr)
|
rs58599399
|
0.00373
|
NM_000202.8(IDS):c.754G>A (p.Asp252Asn)
|
rs146458524
|
0.00372
|
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)
|
rs148999583
|
0.00372
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys)
|
rs146569520
|
0.00359
|
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg)
|
rs150656720
|
0.00357
|
NM_000330.4(RS1):c.184+3118C>T
|
rs139155110
|
0.00352
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_139058.3(ARX):c.1671G>A (p.Thr557=)
|
rs190910161
|
0.00349
|
NM_000330.4(RS1):c.184+3199G>A
|
rs36022183
|
0.00345
|
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)
|
rs113593896
|
0.00341
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu)
|
rs77134982
|
0.00334
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_005656.4(TMPRSS2):c.1467G>A (p.Arg489=)
|
rs142750000
|
0.00327
|
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala)
|
rs140903276
|
0.00320
|
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)
|
rs73003348
|
0.00315
|
NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp)
|
rs142227576
|
0.00313
|
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_001182.4(ALDH7A1):c.-80T>G
|
rs563928852
|
0.00308
|
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln)
|
rs539194350
|
0.00306
|
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp)
|
rs190664764
|
0.00304
|
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)
|
rs34295241
|
0.00302
|
NM_000540.3(RYR1):c.12869C>T (p.Ala4290Val)
|
rs755065800
|
0.00298
|
NM_213599.3(ANO5):c.259G>A (p.Val87Ile)
|
rs34994927
|
0.00293
|
NM_001982.4(ERBB3):c.3529C>A (p.Leu1177Ile)
|
rs55699040
|
0.00291
|
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)
|
rs72552293
|
0.00291
|
NM_001374623.1(PNPLA1):c.383C>T (p.Thr128Met)
|
rs140585347
|
0.00290
|
NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu)
|
rs61966074
|
0.00285
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala)
|
rs71524349
|
0.00279
|
NM_020839.4(WDR48):c.280T>G (p.Ser94Ala)
|
rs148407227
|
0.00279
|
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_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)
|
rs186999408
|
0.00271
|
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe)
|
rs147846832
|
0.00269
|
NM_015072.5(TTLL5):c.2891G>A (p.Arg964Gln)
|
rs142169707
|
0.00269
|
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe)
|
rs148663672
|
0.00269
|
NM_001098484.3(SLC4A4):c.1805A>G (p.Lys602Arg)
|
rs72650362
|
0.00264
|
NM_201384.3(PLEC):c.9718G>A (p.Glu3240Lys)
|
rs75857070
|
0.00263
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_001136046.3(ZMYND15):c.2015G>A (p.Arg672His)
|
rs148980412
|
0.00255
|
NM_000562.3(C8A):c.385G>A (p.Asp129Asn)
|
rs150404785
|
0.00251
|
NM_014339.7(IL17RA):c.1174G>T (p.Val392Leu)
|
rs146478431
|
0.00249
|
NM_018993.4(RIN2):c.1141C>T (p.Arg381Trp)
|
rs199954296
|
0.00249
|
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln)
|
rs201089795
|
0.00248
|
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn)
|
rs61730399
|
0.00247
|
NM_173651.4(FSIP2):c.9739A>G (p.Arg3247Gly)
|
rs142306380
|
0.00246
|
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val)
|
rs141901178
|
0.00244
|
NM_000540.3(RYR1):c.14130-8C>G
|
rs140808099
|
0.00242
|
NM_000543.5(SMPD1):c.441G>A (p.Val147=)
|
rs148944108
|
0.00241
|
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly)
|
rs531879999
|
0.00240
|
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)
|
rs113106943
|
0.00239
|
NM_198129.4(LAMA3):c.8028C>T (p.Asn2676=)
|
rs35737354
|
0.00238
|
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)
|
rs143777403
|
0.00238
|
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)
|
rs36099971
|
0.00237
|
NM_001256864.2(DNAJC6):c.1492T>A (p.Cys498Ser)
|
rs145329294
|
0.00237
|
NM_003458.4(BSN):c.863C>T (p.Pro288Leu)
|
rs200890584
|
0.00235
|
NM_015261.3(NCAPD3):c.1981G>T (p.Asp661Tyr)
|
rs151013524
|
0.00235
|
NM_020921.4(NIN):c.2987C>T (p.Ala996Val)
|
rs41313507
|
0.00235
|
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr)
|
rs202049257
|
0.00229
|
NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe)
|
rs557108466
|
0.00228
|
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=)
|
rs193148631
|
0.00228
|
NM_005076.5(CNTN2):c.505C>T (p.Leu169Phe)
|
rs142502980
|
0.00224
|
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu)
|
rs149953814
|
0.00223
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu)
|
rs150801382
|
0.00221
|
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn)
|
rs113870881
|
0.00220
|
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu)
|
rs144746030
|
0.00220
|
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile)
|
rs62621067
|
0.00220
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00215
|
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)
|
rs149210307
|
0.00212
|
NM_000153.4(GALC):c.-318T>C
|
rs556647825
|
0.00210
|
NM_025145.7(CFAP43):c.745G>T (p.Asp249Tyr)
|
rs41291844
|
0.00210
|
NM_144991.3(TSPEAR):c.170G>A (p.Arg57Gln)
|
rs151001222
|
0.00210
|
NM_173630.4(RTTN):c.5212C>T (p.His1738Tyr)
|
rs35068710
|
0.00210
|
NM_001868.4(CPA1):c.497G>A (p.Gly166Asp)
|
rs144546424
|
0.00209
|
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met)
|
rs141032388
|
0.00209
|
NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala)
|
rs141663679
|
0.00207
|
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp)
|
rs200146361
|
0.00205
|
NM_018076.5(ODAD2):c.2342G>T (p.Gly781Val)
|
rs145619075
|
0.00205
|
NM_021978.4(ST14):c.508G>A (p.Glu170Lys)
|
rs150984123
|
0.00205
|
NM_006269.2(RP1):c.4250T>C (p.Leu1417Pro)
|
rs139294220
|
0.00204
|
NM_001163809.2(WDR81):c.5231C>T (p.Ala1744Val)
|
rs137952560
|
0.00203
|
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile)
|
rs138232538
|
0.00202
|
NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp)
|
rs146547678
|
0.00201
|
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)
|
rs141152043
|
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_003235.5(TG):c.6181G>A (p.Gly2061Arg)
|
rs115436575
|
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_016239.4(MYO15A):c.5754T>G (p.Ile1918Met)
|
rs150403702
|
0.00197
|
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr)
|
rs140026883
|
0.00196
|
NM_001048166.1(STIL):c.1069G>A (p.Ala357Thr)
|
rs75426387
|
0.00194
|
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_001034853.2(RPGR):c.732G>A (p.Lys244=)
|
rs62638654
|
0.00191
|
NM_001372106.1(DNAH10):c.11863C>T (p.Arg3955Cys)
|
rs144421774
|
0.00191
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
NM_000554.6(CRX):c.253-15G>A
|
rs145805694
|
0.00187
|
NM_203395.3(IYD):c.604G>A (p.Ala202Thr)
|
rs146905706
|
0.00186
|
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)
|
rs182126530
|
0.00185
|
NM_020759.3(STARD9):c.1655G>T (p.Arg552Leu)
|
rs202074007
|
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_000417.3(IL2RA):c.272C>T (p.Thr91Met)
|
rs72650666
|
0.00183
|
NM_001198800.3(ASCC1):c.107A>G (p.Tyr36Cys)
|
rs145940742
|
0.00183
|
NM_032520.5(GNPTG):c.741+5C>T
|
rs201263537
|
0.00183
|
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)
|
rs201979610
|
0.00182
|
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser)
|
rs35610053
|
0.00181
|
NM_015261.3(NCAPD3):c.4129C>T (p.Pro1377Ser)
|
rs150526752
|
0.00180
|
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile)
|
rs150112560
|
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_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
NM_015072.5(TTLL5):c.2603-3T>C
|
rs185326652
|
0.00175
|
NM_020949.3(SLC7A14):c.821C>T (p.Thr274Ile)
|
rs116040996
|
0.00175
|
NM_004279.3(PMPCB):c.1336A>G (p.Asn446Asp)
|
rs144744182
|
0.00172
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
NM_004618.5(TOP3A):c.604G>A (p.Asp202Asn)
|
rs117856165
|
0.00171
|
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser)
|
rs147744729
|
0.00169
|
NM_000553.6(WRN):c.1717A>G (p.Thr573Ala)
|
rs150148567
|
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_213599.3(ANO5):c.2698A>C (p.Met900Leu)
|
rs148293985
|
0.00169
|
NM_001093.4(ACACB):c.5362G>A (p.Val1788Met)
|
rs143901792
|
0.00168
|
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr)
|
rs138160928
|
0.00168
|
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=)
|
rs146588811
|
0.00167
|
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)
|
rs72659383
|
0.00166
|
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_025137.4(SPG11):c.3436A>G (p.Ile1146Val)
|
rs114945876
|
0.00165
|
NM_173630.4(RTTN):c.2804A>G (p.His935Arg)
|
rs145832674
|
0.00164
|
NM_001042413.2(GLIS3):c.1191G>C (p.Gln397His)
|
rs138497710
|
0.00163
|
NM_144631.6(ZNF513):c.290C>T (p.Ala97Val)
|
rs35554630
|
0.00163
|
NM_198271.5(LMOD3):c.1190A>G (p.Gln397Arg)
|
rs199592188
|
0.00163
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=)
|
rs141859450
|
0.00162
|
NM_001083961.2(WDR62):c.253G>A (p.Val85Met)
|
rs146274964
|
0.00161
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His)
|
rs76726265
|
0.00161
|
NM_000185.4(SERPIND1):c.842T>C (p.Ile281Thr)
|
rs145370736
|
0.00160
|
NM_020191.4(MRPS22):c.617C>T (p.Thr206Ile)
|
rs76148008
|
0.00160
|
NM_000383.4(AIRE):c.1567-5C>T
|
rs192215705
|
0.00158
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met)
|
rs148616345
|
0.00158
|
NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg)
|
rs118037269
|
0.00157
|
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)
|
rs139503476
|
0.00157
|
NM_006214.4(PHYH):c.356C>T (p.Thr119Met)
|
rs34571629
|
0.00155
|
NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys)
|
rs79295927
|
0.00155
|
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala)
|
rs61760167
|
0.00154
|
NM_003737.4(DCHS1):c.4555C>T (p.Pro1519Ser)
|
rs199544459
|
0.00154
|
NM_032447.5(FBN3):c.4847G>A (p.Cys1616Tyr)
|
rs141592778
|
0.00154
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_032242.4(PLXNA1):c.4903A>G (p.Ser1635Gly)
|
rs147504334
|
0.00153
|
NM_139315.3(TAF6):c.1396G>T (p.Ala466Ser)
|
rs144875978
|
0.00153
|
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp)
|
rs61753094
|
0.00152
|
NM_001171155.2(PET100):c.74A>G (p.Asn25Ser)
|
rs184325854
|
0.00151
|
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile)
|
rs142295786
|
0.00150
|
NM_001481.3(GAS8):c.808G>C (p.Ala270Pro)
|
rs141125763
|
0.00150
|
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)
|
rs140679502
|
0.00150
|
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)
|
rs145804755
|
0.00150
|
NM_004793.4(LONP1):c.742G>A (p.Asp248Asn)
|
rs149169865
|
0.00149
|
NM_000073.3(CD3G):c.158T>C (p.Ile53Thr)
|
rs142915569
|
0.00148
|
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser)
|
rs116841148
|
0.00148
|
NM_015909.4(NBAS):c.4358G>A (p.Cys1453Tyr)
|
rs148644578
|
0.00147
|
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val)
|
rs144215747
|
0.00147
|
NM_002591.4(PCK1):c.1642G>A (p.Ala548Thr)
|
rs148684857
|
0.00146
|
NM_006901.4(MYO9A):c.3257G>A (p.Arg1086His)
|
rs75986913
|
0.00146
|
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile)
|
rs139067427
|
0.00146
|
NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser)
|
rs45478900
|
0.00146
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)
|
rs147415774
|
0.00145
|
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val)
|
rs145639192
|
0.00145
|
NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile)
|
rs143877028
|
0.00144
|
NM_032415.7(CARD11):c.2301C>T (p.Asp767=)
|
rs144358235
|
0.00143
|
NM_000326.5(RLBP1):c.141+6G>A
|
rs181321141
|
0.00142
|
NM_001080453.3(INTS1):c.6248T>G (p.Phe2083Cys)
|
rs201675191
|
0.00141
|
NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met)
|
rs111450526
|
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_005732.4(RAD50):c.943G>T (p.Val315Leu)
|
rs28903090
|
0.00141
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
NM_005186.4(CAPN1):c.1474G>A (p.Gly492Arg)
|
rs17883283
|
0.00140
|
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr)
|
rs145871479
|
0.00140
|
NM_014727.3(KMT2B):c.2268_2279dup (p.Gln759_Pro762dup)
|
rs564202766
|
0.00140
|
NM_001557.4(CXCR2):c.458G>A (p.Arg153His)
|
rs55799208
|
0.00139
|
NM_001080414.4(CCDC88C):c.5296G>A (p.Val1766Met)
|
rs201931182
|
0.00138
|
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys)
|
rs141226650
|
0.00138
|
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn)
|
rs140996453
|
0.00138
|
NM_005262.3(GFER):c.189G>C (p.Glu63Asp)
|
rs375792737
|
0.00138
|
NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met)
|
rs145080512
|
0.00137
|
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)
|
rs535030441
|
0.00136
|
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)
|
rs139956524
|
0.00135
|
NM_004998.4(MYO1E):c.1615C>A (p.Leu539Met)
|
rs139049058
|
0.00134
|
NM_001388492.1(HTT):c.3244G>C (p.Asp1082His)
|
rs1065746
|
0.00133
|
NM_001985.3(ETFB):c.292C>T (p.Arg98Cys)
|
rs147353781
|
0.00133
|
NM_012293.3(PXDN):c.19G>T (p.Gly7Cys)
|
rs775995985
|
0.00133
|
NM_030957.4(ADAMTS10):c.1719C>T (p.His573=)
|
rs142320702
|
0.00133
|
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp)
|
rs139310448
|
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_004998.4(MYO1E):c.1135C>G (p.His379Asp)
|
rs150983259
|
0.00132
|
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)
|
rs186681106
|
0.00131
|
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser)
|
rs118136428
|
0.00131
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe)
|
rs201369510
|
0.00131
|
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543
|
0.00130
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
NM_004130.4(GYG1):c.98G>A (p.Arg33Lys)
|
rs146101365
|
0.00128
|
NM_018076.5(ODAD2):c.883G>C (p.Val295Leu)
|
rs143215183
|
0.00128
|
NM_194318.4(B3GLCT):c.1207G>A (p.Val403Ile)
|
rs147485868
|
0.00128
|
NM_014687.4(RUBCN):c.430G>A (p.Gly144Arg)
|
rs115638090
|
0.00127
|
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)
|
rs150062050
|
0.00126
|
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val)
|
rs144289912
|
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_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
NM_000222.3(KIT):c.1588G>A (p.Val530Ile)
|
rs72550822
|
0.00125
|
NM_001079802.2(FKTN):c.166-4A>G
|
rs193922689
|
0.00125
|
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser)
|
rs201044013
|
0.00125
|
NM_001698.3(AUH):c.381A>G (p.Ile127Met)
|
rs146227896
|
0.00125
|
NM_001042646.3(TRAK1):c.2054G>A (p.Arg685Gln)
|
rs149186690
|
0.00124
|
NM_001061.7(TBXAS1):c.179G>A (p.Arg60His)
|
rs6138
|
0.00124
|
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)
|
rs188093810
|
0.00124
|
NM_006214.4(PHYH):c.601C>G (p.Arg201Gly)
|
rs143957922
|
0.00124
|
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly)
|
rs148833652
|
0.00123
|
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile)
|
rs117307093
|
0.00123
|
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys)
|
rs200898220
|
0.00123
|
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)
|
rs199865688
|
0.00122
|
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile)
|
rs140769712
|
0.00122
|
NM_001183.6(ATP6AP1):c.361G>C (p.Glu121Gln)
|
rs148803059
|
0.00122
|
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg)
|
rs141233891
|
0.00122
|
NM_003179.3(SYP):c.877G>A (p.Gly293Ser)
|
rs139475570
|
0.00122
|
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys)
|
rs146799286
|
0.00122
|
NM_144631.6(ZNF513):c.395G>C (p.Cys132Ser)
|
rs184500376
|
0.00122
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
NM_016630.7(SPG21):c.538G>A (p.Ala180Thr)
|
rs149251662
|
0.00121
|
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln)
|
rs140621272
|
0.00121
|
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)
|
rs141493373
|
0.00120
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00120
|
NM_015378.4(VPS13D):c.459A>C (p.Gln153His)
|
rs116415833
|
0.00120
|
NM_033100.4(CDHR1):c.556C>T (p.His186Tyr)
|
rs147420731
|
0.00120
|
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)
|
rs188739870
|
0.00120
|
NM_001177693.2(ARHGEF28):c.4664G>A (p.Arg1555Gln)
|
rs201626401
|
0.00119
|
NM_001083614.2(EARS2):c.263C>A (p.Ala88Glu)
|
rs201929423
|
0.00118
|
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)
|
rs137979116
|
0.00118
|
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)
|
rs45449298
|
0.00118
|
NM_012213.3(MLYCD):c.1044G>T (p.Glu348Asp)
|
rs138675420
|
0.00118
|
NM_019112.4(ABCA7):c.3727-6C>T
|
rs189260652
|
0.00118
|
NM_021815.5(SLC5A7):c.46C>T (p.Leu16Phe)
|
rs143876748
|
0.00118
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
NM_003504.5(CDC45):c.19C>G (p.Arg7Gly)
|
rs147730653
|
0.00117
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser)
|
rs148935720
|
0.00116
|
NM_016929.5(CLIC5):c.326G>A (p.Arg109Gln)
|
rs117204561
|
0.00116
|
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile)
|
rs141858284
|
0.00116
|
NM_005391.5(PDK3):c.376A>G (p.Met126Val)
|
rs138321172
|
0.00115
|
NM_018292.5(QRSL1):c.1090A>G (p.Thr364Ala)
|
rs143151340
|
0.00115
|
NM_000400.4(ERCC2):c.1789C>T (p.Leu597=)
|
rs138038607
|
0.00113
|
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile)
|
rs116448158
|
0.00113
|
NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn)
|
rs151286835
|
0.00113
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)
|
rs3747835
|
0.00113
|
NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln)
|
rs150230201
|
0.00113
|
NM_015466.4(PTPN23):c.3545G>A (p.Arg1182Gln)
|
rs148987427
|
0.00113
|
NM_198999.3(SLC26A5):c.1944A>C (p.Gln648His)
|
rs148546326
|
0.00113
|
NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp)
|
rs41306784
|
0.00112
|
NM_001164508.2(NEB):c.177G>A (p.Gln59=)
|
rs200990309
|
0.00112
|
NM_002796.3(PSMB4):c.-9G>A
|
rs200946642
|
0.00112
|
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile)
|
rs139073821
|
0.00112
|
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu)
|
rs182120395
|
0.00112
|
NM_016529.6(ATP8A2):c.1469G>A (p.Arg490His)
|
rs201904651
|
0.00111
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser)
|
rs149911553
|
0.00110
|
NM_133261.3(GIPC3):c.4G>A (p.Glu2Lys)
|
rs764467903
|
0.00110
|
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
|
rs72648930
|
0.00109
|
NM_018972.4(GDAP1):c.310+6del
|
rs780828430
|
0.00109
|
NM_000550.3(TYRP1):c.1554G>C (p.Gln518His)
|
rs41305647
|
0.00108
|
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln)
|
rs149824485
|
0.00108
|
NM_003801.4(GPAA1):c.1863G>T (p.Lys621Asn)
|
rs13255101
|
0.00108
|
NM_018993.4(RIN2):c.2501A>T (p.Tyr834Phe)
|
rs183141566
|
0.00108
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)
|
rs34489989
|
0.00108
|
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu)
|
rs200053639
|
0.00108
|
NM_201384.3(PLEC):c.6438G>A (p.Ala2146=)
|
rs374211586
|
0.00108
|
NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly)
|
rs61743881
|
0.00107
|
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met)
|
rs35090700
|
0.00107
|
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)
|
rs141980901
|
0.00107
|
NM_006950.3(SYN1):c.1107C>T (p.Ile369=)
|
rs150248483
|
0.00107
|
NM_015346.4(ZFYVE26):c.1945G>A (p.Val649Met)
|
rs144790966
|
0.00107
|
NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu)
|
rs146149224
|
0.00106
|
NM_020971.3(SPTBN4):c.3927C>G (p.His1309Gln)
|
rs140544038
|
0.00106
|
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)
|
rs144968313
|
0.00106
|
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)
|
rs199929757
|
0.00105
|
NM_015072.5(TTLL5):c.670G>A (p.Val224Met)
|
rs17849666
|
0.00105
|
NM_032581.4(HYCC1):c.191A>G (p.Tyr64Cys)
|
rs146913158
|
0.00105
|
NM_173076.3(ABCA12):c.1141G>C (p.Val381Leu)
|
rs143513000
|
0.00105
|
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met)
|
rs146567178
|
0.00105
|
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn)
|
rs142388112
|
0.00105
|
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)
|
rs138760432
|
0.00105
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00104
|
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)
|
rs117390537
|
0.00103
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
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_001267550.2(TTN):c.82691C>T (p.Ala27564Val)
|
rs55634791
|
0.00102
|
NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr)
|
rs550949678
|
0.00102
|
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)
|
rs138392504
|
0.00102
|
NM_005876.5(SPEG):c.3969G>T (p.Gln1323His)
|
rs55876679
|
0.00102
|
NM_032790.4(ORAI1):c.100A>C (p.Ser34Arg)
|
rs781829024
|
0.00102
|
NM_001099287.2(NIPAL4):c.260C>T (p.Thr87Met)
|
rs188020393
|
0.00101
|
NM_003630.3(PEX3):c.578+8A>G
|
rs200807211
|
0.00101
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
NM_201384.3(PLEC):c.4980C>T (p.Ala1660=)
|
rs199612329
|
0.00101
|
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)
|
rs72650677
|
0.00100
|
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser)
|
rs150752263
|
0.00100
|
NM_001770.6(CD19):c.1274C>T (p.Ser425Phe)
|
rs142818579
|
0.00099
|
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp)
|
rs143030960
|
0.00099
|
NM_000083.3(CLCN1):c.2364+10G>A
|
rs201855153
|
0.00098
|
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg)
|
rs184866544
|
0.00098
|
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr)
|
rs141068211
|
0.00098
|
NM_198129.4(LAMA3):c.2809C>T (p.Leu937Phe)
|
rs61751701
|
0.00097
|
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)
|
rs111727915
|
0.00096
|
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser)
|
rs139401633
|
0.00096
|
NM_002292.4(LAMB2):c.1306G>A (p.Gly436Ser)
|
rs142402808
|
0.00096
|
NM_018979.4(WNK1):c.2206A>G (p.Ile736Val)
|
rs147099510
|
0.00096
|
NM_182943.3(PLOD2):c.587C>T (p.Thr196Ile)
|
rs148118826
|
0.00096
|
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu)
|
rs80356576
|
0.00096
|
NM_201378.4(PLEC):c.71-11599T>C
|
rs201910266
|
0.00096
|
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe)
|
rs139059149
|
0.00095
|
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala)
|
rs115986826
|
0.00095
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys)
|
rs41299625
|
0.00095
|
NM_152743.4(BRAT1):c.434C>T (p.Ala145Val)
|
rs140833277
|
0.00095
|
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)
|
rs61750604
|
0.00094
|
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu)
|
rs147950418
|
0.00094
|
NM_013280.5(FLRT1):c.64G>A (p.Val22Ile)
|
rs143337663
|
0.00094
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His)
|
rs146279300
|
0.00094
|
NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr)
|
rs61742247
|
0.00093
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
NM_002227.4(JAK1):c.1951G>A (p.Val651Met)
|
rs149968614
|
0.00093
|
NM_139058.3(ARX):c.802G>T (p.Val268Leu)
|
rs587783141
|
0.00093
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
NM_015425.6(POLR1A):c.4273-5G>A
|
rs370722814
|
0.00092
|
NM_000426.4(LAMA2):c.9211+6T>C
|
rs201375881
|
0.00091
|
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)
|
rs149763294
|
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_003265.3(TLR3):c.441+3A>G
|
rs143625567
|
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_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)
|
rs55708915
|
0.00091
|
NM_138348.6(OTULIN):c.119A>G (p.Gln40Arg)
|
rs750815369
|
0.00091
|
NM_005589.4(ALDH6A1):c.194A>G (p.Asn65Ser)
|
rs111975186
|
0.00090
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
NM_000434.4(NEU1):c.432C>T (p.Ser144=)
|
rs114405905
|
0.00089
|
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)
|
rs142063328
|
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_005546.4(ITK):c.1510A>T (p.Thr504Ser)
|
rs151046132
|
0.00089
|
NM_001365276.2(TNXB):c.5488A>C (p.Ser1830Arg)
|
rs200519530
|
0.00088
|
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)
|
rs141978499
|
0.00088
|
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro)
|
rs150000996
|
0.00088
|
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln)
|
rs145697858
|
0.00087
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
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_032444.4(SLX4):c.1372A>G (p.Lys458Glu)
|
rs149126845
|
0.00087
|
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr)
|
rs536963649
|
0.00087
|
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val)
|
rs150288967
|
0.00086
|
NM_006348.5(COG5):c.1756C>T (p.His586Tyr)
|
rs151129529
|
0.00086
|
NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala)
|
rs141650732
|
0.00086
|
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)
|
rs146062161
|
0.00086
|
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)
|
rs148634904
|
0.00086
|
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp)
|
rs143113298
|
0.00086
|
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
|
rs147707463
|
0.00085
|
NM_002223.4(ITPR2):c.3485T>G (p.Val1162Gly)
|
rs61757114
|
0.00085
|
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)
|
rs77300588
|
0.00085
|
NM_001080414.4(CCDC88C):c.1527+8G>A
|
rs151228192
|
0.00084
|
NM_001350162.2(TEX15):c.9474G>A (p.Trp3158Ter)
|
rs146619272
|
0.00084
|
NM_001367721.1(CASK):c.1077G>A (p.Ala359=)
|
rs145641295
|
0.00084
|
NM_014324.6(AMACR):c.554T>C (p.Val185Ala)
|
rs145786819
|
0.00084
|
NM_014363.6(SACS):c.8972G>A (p.Arg2991His)
|
rs192610957
|
0.00084
|
NM_032634.4(PIGO):c.626A>G (p.Asn209Ser)
|
rs138028827
|
0.00084
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val)
|
rs5397
|
0.00083
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val)
|
rs149153003
|
0.00083
|
NM_006005.3(WFS1):c.2195G>A (p.Arg732His)
|
rs149013740
|
0.00083
|
NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr)
|
rs41274600
|
0.00083
|
NM_025207.5(FLAD1):c.1119G>A (p.Gly373=)
|
rs142224458
|
0.00083
|
NM_183357.3(ADCY5):c.2347G>A (p.Val783Met)
|
rs147630334
|
0.00083
|
NM_001292063.2(OTOG):c.385G>A (p.Val129Met)
|
rs552304627
|
0.00081
|
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys)
|
rs140243105
|
0.00081
|
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met)
|
rs150432347
|
0.00081
|
NM_006901.4(MYO9A):c.1987-6A>G
|
rs200246273
|
0.00081
|
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)
|
rs149372969
|
0.00081
|
NM_173551.5(ANKS6):c.2564T>C (p.Phe855Ser)
|
rs200644058
|
0.00081
|
NM_001036.6(RYR3):c.5393G>A (p.Arg1798Gln)
|
rs148818748
|
0.00080
|
NM_004341.5(CAD):c.6001G>A (p.Val2001Ile)
|
rs144801319
|
0.00080
|
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)
|
rs62645939
|
0.00079
|
NM_001793.6(CDH3):c.2356G>A (p.Gly786Ser)
|
rs34813787
|
0.00079
|
NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln)
|
rs201417343
|
0.00079
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00078
|
NM_052867.4(NALCN):c.4103+4G>C
|
rs201402954
|
0.00078
|
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg)
|
rs147328685
|
0.00078
|
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)
|
rs72658163
|
0.00077
|
NM_002335.4(LRP5):c.1413-7T>A
|
rs141889567
|
0.00077
|
NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr)
|
rs112181324
|
0.00077
|
NM_018993.4(RIN2):c.2627T>C (p.Ile876Thr)
|
rs202076384
|
0.00077
|
NM_032415.7(CARD11):c.3145-3C>T
|
rs200456391
|
0.00077
|
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln)
|
rs145343609
|
0.00077
|
NM_001278512.2(AP3B2):c.2394C>T (p.Ser798=)
|
rs189447069
|
0.00076
|
NM_002180.3(IGHMBP2):c.1060+8G>T
|
rs201147313
|
0.00076
|
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)
|
rs139703788
|
0.00076
|
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His)
|
rs104894649
|
0.00076
|
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile)
|
rs150185067
|
0.00076
|
NM_000073.3(CD3G):c.56G>A (p.Gly19Asp)
|
rs146393315
|
0.00075
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_001083961.2(WDR62):c.3763G>A (p.Val1255Ile)
|
rs146180208
|
0.00075
|
NM_001349.4(DARS1):c.1150-5T>G
|
rs199776135
|
0.00075
|
NM_183357.3(ADCY5):c.2818G>A (p.Glu940Lys)
|
rs113442895
|
0.00075
|
NM_004928.3(CFAP410):c.763G>A (p.Ala255Thr)
|
rs141195315
|
0.00074
|
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)
|
rs202190568
|
0.00074
|
NM_000124.4(ERCC6):c.150G>A (p.Val50=)
|
rs80133923
|
0.00073
|
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr)
|
rs145641996
|
0.00073
|
NM_000718.4(CACNA1B):c.6724G>C (p.Asp2242His)
|
rs79400016
|
0.00072
|
NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala)
|
rs273585627
|
0.00072
|
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)
|
rs138081804
|
0.00072
|
NM_014336.5(AIPL1):c.780C>T (p.His260=)
|
rs145304845
|
0.00072
|
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)
|
rs147143094
|
0.00071
|
NM_001080449.3(DNA2):c.68C>T (p.Ala23Val)
|
rs200467869
|
0.00071
|
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)
|
rs201144431
|
0.00071
|
NM_002292.4(LAMB2):c.703C>T (p.Arg235Trp)
|
rs144133177
|
0.00071
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_001042475.3(CEP85L):c.1020+17280C>A
|
rs551982604
|
0.00070
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr)
|
rs144637286
|
0.00070
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)
|
rs72648206
|
0.00069
|
NM_004525.3(LRP2):c.6938C>T (p.Pro2313Leu)
|
rs73035708
|
0.00069
|
NM_005149.3(TBX19):c.204-3T>C
|
rs200043223
|
0.00069
|
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe)
|
rs141567438
|
0.00069
|
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=)
|
rs372175239
|
0.00068
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
0.00068
|
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)
|
rs143205296
|
0.00068
|
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala)
|
rs17848485
|
0.00067
|
NM_001457.4(FLNB):c.4307G>A (p.Arg1436Gln)
|
rs140018418
|
0.00067
|
NM_002470.4(MYH3):c.736-6A>G
|
rs372079063
|
0.00067
|
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln)
|
rs148826890
|
0.00067
|
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg)
|
rs139279977
|
0.00067
|
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser)
|
rs139851311
|
0.00066
|
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)
|
rs104895192
|
0.00066
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_000426.4(LAMA2):c.6268+5G>C
|
rs182064878
|
0.00066
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)
|
rs138437966
|
0.00066
|
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His)
|
rs140621260
|
0.00066
|
NM_015378.4(VPS13D):c.6303T>G (p.His2101Gln)
|
rs143933696
|
0.00066
|
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala)
|
rs115507225
|
0.00066
|
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)
|
rs142994610
|
0.00065
|
NM_001142864.4(PIEZO1):c.1495G>A (p.Val499Ile)
|
rs530486445
|
0.00065
|
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)
|
rs200550947
|
0.00065
|
NM_004608.4(TBX6):c.585C>T (p.Val195=)
|
rs148435229
|
0.00065
|
NM_006158.5(NEFL):c.639C>G (p.Ile213Met)
|
rs62636522
|
0.00065
|
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)
|
rs147692158
|
0.00065
|
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln)
|
rs200780796
|
0.00065
|
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val)
|
rs200646244
|
0.00065
|
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg)
|
rs143451766
|
0.00065
|
NM_198834.3(ACACA):c.4057-5C>T
|
rs200301970
|
0.00065
|
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr)
|
rs184868522
|
0.00064
|
NM_003865.3(HESX1):c.385G>A (p.Val129Ile)
|
rs143057250
|
0.00064
|
NM_005045.4(RELN):c.6962C>T (p.Thr2321Met)
|
rs116065504
|
0.00064
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)
|
rs200450022
|
0.00063
|
NM_001355436.2(SPTB):c.5855T>C (p.Ile1952Thr)
|
rs138039383
|
0.00063
|
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)
|
rs121908517
|
0.00063
|
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)
|
rs146451037
|
0.00063
|
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val)
|
rs200074974
|
0.00062
|
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg)
|
rs147091667
|
0.00062
|
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)
|
rs55945684
|
0.00061
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
NM_001291303.3(FAT4):c.5792A>G (p.Tyr1931Cys)
|
rs139716832
|
0.00061
|
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)
|
rs117583120
|
0.00061
|
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)
|
rs140769107
|
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_020435.4(GJC2):c.556G>T (p.Gly186Cys)
|
rs201277546
|
0.00061
|
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn)
|
rs117320408
|
0.00061
|
NM_080473.5(GATA5):c.424T>C (p.Tyr142His)
|
rs111554140
|
0.00061
|
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)
|
rs200204857
|
0.00061
|
NM_173630.4(RTTN):c.2568T>A (p.Ala856=)
|
rs370998068
|
0.00061
|
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu)
|
rs146490788
|
0.00061
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
NM_000554.6(CRX):c.28C>G (p.His10Asp)
|
rs139340178
|
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_001378452.1(ITPR1):c.5163C>A (p.Asn1721Lys)
|
rs201937660
|
0.00060
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
NM_005502.4(ABCA1):c.99A>G (p.Leu33=)
|
rs141151519
|
0.00060
|
NM_006059.4(LAMC3):c.3319G>A (p.Gly1107Arg)
|
rs144118534
|
0.00060
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)
|
rs146970014
|
0.00059
|
NM_001145026.2(PTPRQ):c.54+8G>A
|
rs372908419
|
0.00059
|
NM_001319074.4(RAX2):c.156G>A (p.Pro52=)
|
rs141804618
|
0.00059
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
NM_025000.4(DCAF17):c.724G>A (p.Ala242Thr)
|
rs149650431
|
0.00059
|
NM_001382347.1(MYO5A):c.4432C>T (p.Pro1478Ser)
|
rs147898420
|
0.00058
|
NM_002617.4(PEX10):c.896C>T (p.Ala299Val)
|
rs78620392
|
0.00058
|
NM_003560.4(PLA2G6):c.1428-8C>T
|
rs370288820
|
0.00058
|
NM_020247.5(COQ8A):c.67G>A (p.Val23Met)
|
rs35582308
|
0.00058
|
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu)
|
rs144826521
|
0.00058
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)
|
rs144797861
|
0.00057
|
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe)
|
rs61749682
|
0.00057
|
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)
|
rs149425237
|
0.00057
|
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)
|
rs192001910
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)
|
rs201252809
|
0.00057
|
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys)
|
rs71524353
|
0.00057
|
NM_006904.7(PRKDC):c.11698C>G (p.Leu3900Val)
|
rs201214138
|
0.00057
|
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg)
|
rs146688972
|
0.00057
|
NM_052867.4(NALCN):c.3843G>A (p.Thr1281=)
|
rs151200877
|
0.00057
|
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)
|
rs116164106
|
0.00057
|
NM_182548.4(LHFPL5):c.476G>A (p.Arg159His)
|
rs139179263
|
0.00057
|
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala)
|
rs117461489
|
0.00057
|
NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln)
|
rs571622809
|
0.00056
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00056
|
NM_004171.4(SLC1A2):c.16G>A (p.Gly6Ser)
|
rs145827578
|
0.00056
|
NM_005448.2(BMP15):c.202C>T (p.Arg68Trp)
|
rs104894763
|
0.00056
|
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu)
|
rs147766428
|
0.00056
|
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr)
|
rs139486133
|
0.00056
|
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=)
|
rs139070088
|
0.00056
|
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)
|
rs142348542
|
0.00055
|
NM_001036.6(RYR3):c.7249A>G (p.Ile2417Val)
|
rs200294137
|
0.00055
|
NM_001042545.2(LTBP4):c.4034C>G (p.Pro1345Arg)
|
rs199678003
|
0.00055
|
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His)
|
rs150874422
|
0.00055
|
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys)
|
rs142499054
|
0.00055
|
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)
|
rs185631651
|
0.00054
|
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)
|
rs145628302
|
0.00054
|
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr)
|
rs140614903
|
0.00054
|
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly)
|
rs201896662
|
0.00054
|
NM_003000.3(SDHB):c.21C>T (p.Leu7=)
|
rs147815442
|
0.00054
|
NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met)
|
rs141593495
|
0.00054
|
NM_006031.6(PCNT):c.8702C>T (p.Pro2901Leu)
|
rs150615481
|
0.00054
|
NM_006514.4(SCN10A):c.853G>A (p.Glu285Lys)
|
rs146151670
|
0.00054
|
NM_014865.4(NCAPD2):c.1009G>A (p.Val337Met)
|
rs143795587
|
0.00054
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)
|
rs141894081
|
0.00054
|
NM_206933.4(USH2A):c.7301-6C>T
|
rs375499259
|
0.00054
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)
|
rs146303208
|
0.00053
|
NM_000245.4(MET):c.607T>A (p.Ser203Thr)
|
rs200861145
|
0.00053
|
NM_000601.6(HGF):c.1891G>A (p.Val631Met)
|
rs145494248
|
0.00053
|
NM_001080467.3(MYO5B):c.1984G>A (p.Asp662Asn)
|
rs200378779
|
0.00053
|
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=)
|
rs143158234
|
0.00053
|
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)
|
rs373960465
|
0.00053
|
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg)
|
rs148487944
|
0.00053
|
NM_004370.6(COL12A1):c.3835+4A>G
|
rs187358458
|
0.00053
|
NM_005560.6(LAMA5):c.2829C>T (p.Ser943=)
|
rs151209097
|
0.00053
|
NM_015114.3(ANKLE2):c.19G>A (p.Ala7Thr)
|
rs865818494
|
0.00053
|
NM_133459.4(CCBE1):c.354A>G (p.Arg118=)
|
rs116239086
|
0.00053
|
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln)
|
rs190396031
|
0.00053
|
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe)
|
rs61753526
|
0.00053
|
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met)
|
rs142580756
|
0.00052
|
NM_001001344.3(ATP2B3):c.214G>A (p.Ala72Thr)
|
rs149114271
|
0.00052
|
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)
|
rs142877365
|
0.00052
|
NM_000453.3(SLC5A5):c.862G>A (p.Gly288Ser)
|
rs142014480
|
0.00051
|
NM_001042545.2(LTBP4):c.1882C>T (p.Arg628Cys)
|
rs200338042
|
0.00051
|
NM_001267550.2(TTN):c.21404-4A>G
|
rs72648965
|
0.00051
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
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_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr)
|
rs553227769
|
0.00051
|
NM_004568.6(SERPINB6):c.314C>A (p.Ser105Tyr)
|
rs148530934
|
0.00051
|
NM_006755.2(TALDO1):c.181C>G (p.Leu61Val)
|
rs149640294
|
0.00051
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
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_022041.4(GAN):c.730A>G (p.Ile244Val)
|
rs200749953
|
0.00051
|
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys)
|
rs141706561
|
0.00051
|
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys)
|
rs147633212
|
0.00050
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_001084.5(PLOD3):c.335A>G (p.Asp112Gly)
|
rs200949505
|
0.00050
|
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)
|
rs139754493
|
0.00050
|
NM_004369.4(COL6A3):c.9494-10C>T
|
rs184617787
|
0.00050
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429
|
0.00049
|
NM_001142416.2(AIMP1):c.592C>T (p.Pro198Ser)
|
rs138106524
|
0.00049
|
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)
|
rs45487699
|
0.00049
|
NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg)
|
rs142348767
|
0.00049
|
NM_145207.3(AFG2A):c.1159C>T (p.Pro387Ser)
|
rs201751275
|
0.00049
|
NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr)
|
rs781946435
|
0.00049
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
0.00049
|
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)
|
rs144245125
|
0.00048
|
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=)
|
rs368625295
|
0.00048
|
NM_001361.5(DHODH):c.804C>T (p.Ala268=)
|
rs374538940
|
0.00048
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
NM_003235.5(TG):c.3139+9G>A
|
rs201582196
|
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_004393.6(DAG1):c.1022C>T (p.Thr341Ile)
|
rs148759919
|
0.00048
|
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)
|
rs199714523
|
0.00048
|
NM_138773.4(SLC25A46):c.416C>A (p.Thr139Asn)
|
rs202123515
|
0.00048
|
NM_176806.4(MOCS2):c.14G>A (p.Cys5Tyr)
|
rs572637154
|
0.00048
|
NM_205836.3(FBXO38):c.2146A>G (p.Ser716Gly)
|
rs150893158
|
0.00048
|
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_031229.4(RBCK1):c.782A>G (p.Asn261Ser)
|
rs377605009
|
0.00047
|
NM_198239.2(CCN6):c.589+27C>T
|
rs200472841
|
0.00047
|
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)
|
rs146445078
|
0.00047
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
NM_000081.4(LYST):c.143A>G (p.His48Arg)
|
rs200132460
|
0.00046
|
NM_000452.3(SLC10A2):c.80A>G (p.Asn27Ser)
|
rs147075283
|
0.00046
|
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)
|
rs141137410
|
0.00046
|
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)
|
rs72648947
|
0.00046
|
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg)
|
rs371943746
|
0.00046
|
NM_001288705.3(CSF1R):c.316C>T (p.Arg106Trp)
|
rs143025739
|
0.00046
|
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys)
|
rs200451158
|
0.00046
|
NM_005045.4(RELN):c.7114G>A (p.Val2372Met)
|
rs114344654
|
0.00046
|
NM_018052.5(VAC14):c.423+6C>T
|
rs375640224
|
0.00046
|
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp)
|
rs200346497
|
0.00046
|
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)
|
rs199988872
|
0.00046
|
NM_177965.4(CFAP418):c.269A>G (p.Asn90Ser)
|
rs199731969
|
0.00046
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr)
|
rs200241993
|
0.00045
|
NM_000452.3(SLC10A2):c.785C>T (p.Thr262Met)
|
rs72547505
|
0.00045
|
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)
|
rs35110529
|
0.00045
|
NM_001048174.2(MUTYH):c.914-9C>T
|
rs3219488
|
0.00045
|
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=)
|
rs142769942
|
0.00045
|
NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr)
|
rs141027782
|
0.00045
|
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe)
|
rs201523784
|
0.00045
|
NM_001267550.2(TTN):c.80722A>C (p.Arg26908=)
|
rs573877174
|
0.00045
|
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val)
|
rs201348580
|
0.00045
|
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr)
|
rs146968463
|
0.00045
|
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp)
|
rs141140798
|
0.00045
|
NM_177924.5(ASAH1):c.457+7G>A
|
rs189892461
|
0.00045
|
NM_000213.5(ITGB4):c.5219-3C>T
|
rs200010813
|
0.00044
|
NM_001084.5(PLOD3):c.1466C>T (p.Pro489Leu)
|
rs145508748
|
0.00044
|
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)
|
rs143762717
|
0.00044
|
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys)
|
rs192152102
|
0.00044
|
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)
|
rs201692151
|
0.00044
|
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)
|
rs142334798
|
0.00044
|
NM_004667.6(HERC2):c.4651A>C (p.Ile1551Leu)
|
rs200864382
|
0.00044
|
NM_012186.3(FOXE3):c.527C>T (p.Ala176Val)
|
rs201955081
|
0.00044
|
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser)
|
rs35116188
|
0.00044
|
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_001039.4(SCNN1G):c.1476A>G (p.Val492=)
|
rs146420892
|
0.00043
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00043
|
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp)
|
rs148579886
|
0.00043
|
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg)
|
rs145673747
|
0.00043
|
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)
|
rs12877501
|
0.00043
|
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly)
|
rs145947380
|
0.00043
|
NM_020987.5(ANK3):c.11366A>G (p.Asn3789Ser)
|
rs144123544
|
0.00043
|
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu)
|
rs148028364
|
0.00042
|
NM_000726.5(CACNB4):c.64-238T>G
|
rs369342902
|
0.00042
|
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)
|
rs189951108
|
0.00042
|
NM_001267550.2(TTN):c.39044-9T>A
|
rs184888200
|
0.00042
|
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)
|
rs202094100
|
0.00042
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln)
|
rs376820301
|
0.00042
|
NM_001377299.1(NDUFS2):c.1354+5G>A
|
rs190184430
|
0.00042
|
NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=)
|
rs150526956
|
0.00042
|
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)
|
rs139145143
|
0.00042
|
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser)
|
rs72648909
|
0.00042
|
NM_144991.3(TSPEAR):c.418G>A (p.Ala140Thr)
|
rs148967240
|
0.00042
|
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu)
|
rs199842745
|
0.00042
|
NM_198129.4(LAMA3):c.8069A>G (p.Gln2690Arg)
|
rs147208526
|
0.00042
|
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)
|
rs113950465
|
0.00041
|
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)
|
rs150395645
|
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_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile)
|
rs147652186
|
0.00041
|
NM_001098816.3(TENM4):c.4558A>G (p.Asn1520Asp)
|
rs199624205
|
0.00041
|
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys)
|
rs200144345
|
0.00041
|
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser)
|
rs191697915
|
0.00041
|
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met)
|
rs201131900
|
0.00041
|
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu)
|
rs142153571
|
0.00041
|
NM_006514.4(SCN10A):c.2441G>A (p.Arg814His)
|
rs139861061
|
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_018706.7(DHTKD1):c.2742C>T (p.Leu914=)
|
rs201680688
|
0.00041
|
NM_020442.6(VARS2):c.1691C>T (p.Ala564Val)
|
rs143408155
|
0.00041
|
NM_178857.6(RP1L1):c.487C>G (p.Arg163Gly)
|
rs187140236
|
0.00041
|
NM_182914.3(SYNE2):c.2402A>G (p.Gln801Arg)
|
rs200848069
|
0.00041
|
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys)
|
rs375510570
|
0.00040
|
NM_001003800.2(BICD2):c.1893C>T (p.Ile631=)
|
rs141414055
|
0.00040
|
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His)
|
rs201080904
|
0.00040
|
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys)
|
rs200201449
|
0.00040
|
NM_007194.4(CHEK2):c.319+3966G>A
|
rs137926355
|
0.00040
|
NM_000399.5(EGR2):c.644C>T (p.Thr215Met)
|
rs139147487
|
0.00039
|
NM_001036.6(RYR3):c.8236A>G (p.Ile2746Val)
|
rs201914506
|
0.00039
|
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu)
|
rs185913848
|
0.00039
|
NM_001365999.1(SZT2):c.6077C>A (p.Ala2026Glu)
|
rs140427193
|
0.00039
|
NM_001378414.1(HDAC4):c.3220G>A (p.Ala1074Thr)
|
rs115552422
|
0.00039
|
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile)
|
rs146876119
|
0.00039
|
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)
|
rs141845119
|
0.00039
|
NM_014324.6(AMACR):c.603G>A (p.Leu201=)
|
rs200253417
|
0.00039
|
NM_022095.4(ZNF335):c.2185A>T (p.Ile729Phe)
|
rs190178539
|
0.00039
|
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)
|
rs370906851
|
0.00039
|
NM_139027.6(ADAMTS13):c.415-5C>T
|
rs200230025
|
0.00039
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu)
|
rs199626372
|
0.00038
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)
|
rs199738299
|
0.00038
|
NM_001083961.2(WDR62):c.82C>T (p.Arg28Trp)
|
rs200283315
|
0.00038
|
NM_001142864.4(PIEZO1):c.6307C>G (p.Leu2103Val)
|
rs531972155
|
0.00038
|
NM_001174089.2(SLC4A11):c.893C>T (p.Ala298Val)
|
rs141705330
|
0.00038
|
NM_001478.5(B4GALNT1):c.1144-7C>T
|
rs370107238
|
0.00038
|
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)
|
rs142546324
|
0.00038
|
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)
|
rs141825182
|
0.00038
|
NM_005141.5(FGB):c.534G>C (p.Lys178Asn)
|
rs201909029
|
0.00038
|
NM_015570.4(AUTS2):c.1295C>A (p.Pro432His)
|
rs767529359
|
0.00038
|
NM_017514.5(PLXNA3):c.2936+8G>A
|
rs374246725
|
0.00038
|
NM_178335.3(CCDC50):c.1429+5G>A
|
rs375535283
|
0.00038
|
NM_000098.3(CPT2):c.1602G>A (p.Glu534=)
|
rs148110518
|
0.00037
|
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
|
rs140482171
|
0.00037
|
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile)
|
rs201905280
|
0.00037
|
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr)
|
rs72657689
|
0.00037
|
NM_001244008.2(KIF1A):c.4778C>T (p.Pro1593Leu)
|
rs200902828
|
0.00037
|
NM_003977.4(AIP):c.26G>A (p.Arg9Gln)
|
rs139459091
|
0.00037
|
NM_006612.6(KIF1C):c.884C>T (p.Ser295Leu)
|
rs145650252
|
0.00037
|
NM_024678.6(NARS2):c.1262+6G>A
|
rs185461968
|
0.00037
|
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys)
|
rs538589589
|
0.00037
|
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)
|
rs34374438
|
0.00036
|
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)
|
rs202245413
|
0.00036
|
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met)
|
rs74772771
|
0.00036
|
NM_001080421.3(UNC13A):c.739G>A (p.Glu247Lys)
|
rs200805380
|
0.00036
|
NM_001184.4(ATR):c.2704T>C (p.Ser902Pro)
|
rs146202702
|
0.00036
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His)
|
rs202149945
|
0.00036
|
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)
|
rs147822019
|
0.00036
|
NM_004522.3(KIF5C):c.576C>T (p.His192=)
|
rs376592911
|
0.00036
|
NM_005732.4(RAD50):c.2397G>C (p.Gln799His)
|
rs61749630
|
0.00036
|
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr)
|
rs139922045
|
0.00036
|
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)
|
rs200128474
|
0.00036
|
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp)
|
rs151227843
|
0.00036
|
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)
|
rs200789563
|
0.00036
|
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)
|
rs200792658
|
0.00036
|
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly)
|
rs145137472
|
0.00036
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu)
|
rs373946758
|
0.00035
|
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys)
|
rs376800688
|
0.00035
|
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)
|
rs72648205
|
0.00035
|
NM_001286577.2(C2CD3):c.6833A>G (p.Asn2278Ser)
|
rs199993353
|
0.00035
|
NM_001374353.1(GLI2):c.305G>A (p.Arg102Gln)
|
rs148442092
|
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_018075.5(ANO10):c.1843G>A (p.Asp615Asn)
|
rs138000380
|
0.00035
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)
|
rs150226817
|
0.00034
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
NM_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00034
|
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=)
|
rs41276445
|
0.00034
|
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met)
|
rs199793620
|
0.00034
|
NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg)
|
rs371580084
|
0.00034
|
NM_001457.4(FLNB):c.6515G>A (p.Arg2172His)
|
rs139846706
|
0.00034
|
NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val)
|
rs35918369
|
0.00034
|
NM_005876.5(SPEG):c.2053C>G (p.Arg685Gly)
|
rs767316023
|
0.00034
|
NM_014727.3(KMT2B):c.5723C>G (p.Ala1908Gly)
|
rs373355746
|
0.00034
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
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_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)
|
rs144797744
|
0.00034
|
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser)
|
rs188766510
|
0.00033
|
NM_000327.4(ROM1):c.339dup (p.Leu114fs)
|
rs71458427
|
0.00033
|
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)
|
rs147723844
|
0.00033
|
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)
|
rs145272777
|
0.00033
|
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp)
|
rs202234492
|
0.00033
|
NM_003764.4(STX11):c.589G>A (p.Val197Met)
|
rs141499372
|
0.00033
|
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His)
|
rs151324784
|
0.00033
|
NM_004960.4(FUS):c.188A>G (p.Asn63Ser)
|
rs140883211
|
0.00033
|
NM_005045.4(RELN):c.877G>A (p.Asp293Asn)
|
rs200289289
|
0.00033
|
NM_005548.3(KARS1):c.1485A>G (p.Ile495Met)
|
rs144274136
|
0.00033
|
NM_006514.4(SCN10A):c.472T>G (p.Tyr158Asp)
|
rs202192818
|
0.00033
|
NM_006514.4(SCN10A):c.905G>A (p.Arg302Gln)
|
rs201955990
|
0.00033
|
NM_007055.4(POLR3A):c.1729G>A (p.Glu577Lys)
|
rs151084236
|
0.00033
|
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)
|
rs141608712
|
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_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)
|
rs145355907
|
0.00032
|
NM_000145.4(FSHR):c.1330G>A (p.Ala444Thr)
|
rs202162496
|
0.00032
|
NM_001161352.2(KCNMA1):c.2267-4486C>T
|
rs188354139
|
0.00032
|
NM_001267550.2(TTN):c.156C>T (p.Pro52=)
|
rs72647842
|
0.00032
|
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)
|
rs201381085
|
0.00032
|
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val)
|
rs201490050
|
0.00032
|
NM_001365999.1(SZT2):c.2025G>A (p.Pro675=)
|
rs561698107
|
0.00032
|
NM_001367624.2(ZNF469):c.216G>T (p.Glu72Asp)
|
rs543285355
|
0.00032
|
NM_003361.4(UMOD):c.184A>C (p.Thr62Pro)
|
rs143248111
|
0.00032
|
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)
|
rs104895016
|
0.00032
|
NM_014425.5(INVS):c.2278T>G (p.Ser760Ala)
|
rs146901872
|
0.00032
|
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)
|
rs144860227
|
0.00032
|
NM_018292.5(QRSL1):c.850-5A>G
|
rs201614446
|
0.00032
|
NM_021098.3(CACNA1H):c.1844C>T (p.Thr615Met)
|
rs368976749
|
0.00032
|
NM_032620.4(GTPBP3):c.592-5G>T
|
rs201374694
|
0.00032
|
NM_201384.3(PLEC):c.10105G>T (p.Val3369Leu)
|
rs201373953
|
0.00032
|
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)
|
rs141010008
|
0.00031
|
NM_000426.4(LAMA2):c.3582T>C (p.Ile1194=)
|
rs137962409
|
0.00031
|
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)
|
rs374524755
|
0.00031
|
NM_000843.4(GRM6):c.2257G>A (p.Gly753Ser)
|
rs79602188
|
0.00031
|
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln)
|
rs200226466
|
0.00031
|
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)
|
rs72648221
|
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_001369.3(DNAH5):c.11570+8T>C
|
rs369789559
|
0.00031
|
NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu)
|
rs200415625
|
0.00031
|
NM_001852.4(COL9A2):c.1162-3C>T
|
rs368209124
|
0.00031
|
NM_002163.4(IRF8):c.982T>G (p.Phe328Val)
|
rs202046728
|
0.00031
|
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser)
|
rs113696032
|
0.00031
|
NM_002529.4(NTRK1):c.482G>A (p.Arg161His)
|
rs150271893
|
0.00031
|
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn)
|
rs145677667
|
0.00031
|
NM_006059.4(LAMC3):c.290A>G (p.Gln97Arg)
|
rs141758463
|
0.00031
|
NM_014297.5(ETHE1):c.278C>T (p.Ser93Phe)
|
rs199827754
|
0.00031
|
NM_015570.4(AUTS2):c.581C>T (p.Ser194Phe)
|
rs150765660
|
0.00031
|
NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe)
|
rs78239264
|
0.00031
|
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)
|
rs370074117
|
0.00031
|
NM_025099.6(CTC1):c.1207-4C>T
|
rs369904656
|
0.00031
|
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)
|
rs147927477
|
0.00031
|
NM_152268.4(PARS2):c.1075G>T (p.Asp359Tyr)
|
rs192469262
|
0.00031
|
NM_183357.3(ADCY5):c.3253G>A (p.Val1085Ile)
|
rs149775261
|
0.00031
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_000260.4(MYO7A):c.731G>A (p.Arg244His)
|
rs121965081
|
0.00030
|
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)
|
rs12720452
|
0.00030
|
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp)
|
rs200664061
|
0.00030
|
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)
|
rs202064385
|
0.00030
|
NM_001384125.1(BLTP1):c.575C>G (p.Pro192Arg)
|
rs188182890
|
0.00030
|
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)
|
rs140596256
|
0.00030
|
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)
|
rs113446173
|
0.00030
|
NM_006514.4(SCN10A):c.2428G>T (p.Gly810Trp)
|
rs145712124
|
0.00030
|
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro)
|
rs140147684
|
0.00030
|
NM_015294.6(TRIM37):c.1357T>A (p.Leu453Met)
|
rs200578021
|
0.00030
|
NM_021076.4(NEFH):c.269C>T (p.Ala90Val)
|
rs61556467
|
0.00030
|
NM_030962.4(SBF2):c.1509A>G (p.Glu503=)
|
rs143773975
|
0.00030
|
NM_172364.5(CACNA2D4):c.1509C>T (p.Ser503=)
|
rs199888783
|
0.00030
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)
|
rs141204958
|
0.00029
|
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg)
|
rs138374956
|
0.00029
|
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)
|
rs201489714
|
0.00029
|
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)
|
rs199473183
|
0.00029
|
NM_000384.3(APOB):c.914A>G (p.Lys305Arg)
|
rs199937544
|
0.00029
|
NM_000642.3(AGL):c.82+4A>C
|
rs765098686
|
0.00029
|
NM_001044.5(SLC6A3):c.1390G>A (p.Val464Ile)
|
rs140401978
|
0.00029
|
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)
|
rs200053635
|
0.00029
|
NM_001127222.2(CACNA1A):c.4806C>T (p.Ile1602=)
|
rs372240227
|
0.00029
|
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330
|
0.00029
|
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=)
|
rs370873040
|
0.00029
|
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)
|
rs200237973
|
0.00029
|
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)
|
rs376768790
|
0.00029
|
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)
|
rs200593368
|
0.00029
|
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)
|
rs72646898
|
0.00029
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)
|
rs150682314
|
0.00029
|
NM_001367624.2(ZNF469):c.6629T>C (p.Leu2210Pro)
|
rs564413710
|
0.00029
|
NM_005984.5(SLC25A1):c.764A>G (p.Lys255Arg)
|
rs113123350
|
0.00029
|
NM_006005.3(WFS1):c.325C>T (p.His109Tyr)
|
rs112871383
|
0.00029
|
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)
|
rs138048706
|
0.00029
|
NM_020376.4(PNPLA2):c.943C>T (p.Pro315Ser)
|
rs150385364
|
0.00029
|
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln)
|
rs150387338
|
0.00029
|
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val)
|
rs367715805
|
0.00029
|
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)
|
rs121917716
|
0.00028
|
NM_000404.4(GLB1):c.31C>G (p.Leu11Val)
|
rs77988381
|
0.00028
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)
|
rs200689750
|
0.00028
|
NM_001365276.2(TNXB):c.3277G>A (p.Val1093Met)
|
rs200432719
|
0.00028
|
NM_001365951.3(KIF1B):c.2115+6313G>A
|
rs374263753
|
0.00028
|
NM_001853.4(COL9A3):c.1756A>C (p.Thr586Pro)
|
rs145821912
|
0.00028
|
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val)
|
rs148893135
|
0.00028
|
NM_004281.4(BAG3):c.771C>T (p.Pro257=)
|
rs200212999
|
0.00028
|
NM_014639.4(SKIC3):c.3488T>A (p.Leu1163His)
|
rs529911259
|
0.00028
|
NM_152743.4(BRAT1):c.1594G>A (p.Gly532Arg)
|
rs142129866
|
0.00028
|
NM_001079866.2(BCS1L):c.64C>T (p.Leu22=)
|
rs777854606
|
0.00027
|
NM_001267550.2(TTN):c.41330-7T>A
|
rs373636988
|
0.00027
|
NM_001985.3(ETFB):c.709G>A (p.Val237Ile)
|
rs149129214
|
0.00027
|
NM_003042.4(SLC6A1):c.1527G>A (p.Ala509=)
|
rs34969656
|
0.00027
|
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln)
|
rs553120567
|
0.00027
|
NM_021729.6(VPS11):c.1023C>T (p.Tyr341=)
|
rs199758476
|
0.00027
|
NM_024996.7(GFM1):c.1457C>T (p.Thr486Ile)
|
rs199976922
|
0.00027
|
NM_201384.3(PLEC):c.5487C>T (p.Ala1829=)
|
rs781998103
|
0.00027
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu)
|
rs146623472
|
0.00026
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
NM_000327.4(ROM1):c.512G>A (p.Arg171His)
|
rs150926409
|
0.00026
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)
|
rs370966353
|
0.00026
|
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)
|
rs370053963
|
0.00026
|
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn)
|
rs200141437
|
0.00026
|
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)
|
rs199804623
|
0.00026
|
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg)
|
rs200042932
|
0.00026
|
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys)
|
rs72677229
|
0.00026
|
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu)
|
rs201662134
|
0.00026
|
NM_001367624.2(ZNF469):c.10717G>A (p.Gly3573Arg)
|
rs183149417
|
0.00026
|
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg)
|
rs141605607
|
0.00026
|
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser)
|
rs200496207
|
0.00026
|
NM_004341.5(CAD):c.4954C>T (p.Arg1652Cys)
|
rs200577574
|
0.00026
|
NM_004974.4(KCNA2):c.1047A>G (p.Ala349=)
|
rs371979518
|
0.00026
|
NM_005422.4(TECTA):c.1651G>A (p.Val551Met)
|
rs200857366
|
0.00026
|
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr)
|
rs372103269
|
0.00026
|
NM_015100.4(POGZ):c.1505G>A (p.Arg502Lys)
|
rs146816269
|
0.00026
|
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr)
|
rs113434340
|
0.00026
|
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln)
|
rs199783506
|
0.00026
|
NM_021930.6(RINT1):c.782C>T (p.Pro261Leu)
|
rs199535472
|
0.00026
|
NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=)
|
rs140829706
|
0.00026
|
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)
|
rs145132275
|
0.00026
|
NM_052867.4(NALCN):c.2242G>A (p.Ala748Thr)
|
rs77946954
|
0.00026
|
NM_145207.3(AFG2A):c.2219T>C (p.Leu740Ser)
|
rs199626476
|
0.00026
|
NM_201384.3(PLEC):c.12781G>A (p.Ala4261Thr)
|
rs200924154
|
0.00026
|
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val)
|
rs138326802
|
0.00026
|
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys)
|
rs150280500
|
0.00026
|
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe)
|
rs150935953
|
0.00025
|
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00025
|
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val)
|
rs202068995
|
0.00025
|
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg)
|
rs368502650
|
0.00025
|
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)
|
rs113849804
|
0.00025
|
NM_004461.3(FARSA):c.1012C>T (p.Arg338Cys)
|
rs201276620
|
0.00025
|
NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys)
|
rs201977551
|
0.00025
|
NM_016239.4(MYO15A):c.7396-8C>G
|
rs370351502
|
0.00025
|
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val)
|
rs201845641
|
0.00025
|
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met)
|
rs199621305
|
0.00025
|
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)
|
rs201131924
|
0.00024
|
NM_000124.4(ERCC6):c.1772C>T (p.Pro591Leu)
|
rs115876786
|
0.00024
|
NM_000276.4(OCRL):c.2680T>A (p.Phe894Ile)
|
rs147629352
|
0.00024
|
NM_000399.5(EGR2):c.192G>C (p.Met64Ile)
|
rs146631014
|
0.00024
|
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)
|
rs139334561
|
0.00024
|
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile)
|
rs202124287
|
0.00024
|
NM_001191061.2(SLC25A22):c.679G>A (p.Val227Met)
|
rs200603610
|
0.00024
|
NM_001206744.2(TPO):c.2524G>A (p.Gly842Arg)
|
rs201659055
|
0.00024
|
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=)
|
rs79406408
|
0.00024
|
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp)
|
rs199505541
|
0.00024
|
NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys)
|
rs202187398
|
0.00024
|
NM_001365276.2(TNXB):c.8432G>A (p.Arg2811Gln)
|
rs200522966
|
0.00024
|
NM_001368894.2(PAX6):c.985T>C (p.Leu329=)
|
rs373147550
|
0.00024
|
NM_001378183.1(PIEZO2):c.2755G>A (p.Glu919Lys)
|
rs564867814
|
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_001848.3(COL6A1):c.2045G>A (p.Arg682Gln)
|
rs148962954
|
0.00024
|
NM_001849.4(COL6A2):c.1605C>T (p.Pro535=)
|
rs377476546
|
0.00024
|
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys)
|
rs113017484
|
0.00024
|
NM_004991.4(MECOM):c.1355A>C (p.Asp452Ala)
|
rs145677287
|
0.00024
|
NM_005560.6(LAMA5):c.6206C>T (p.Pro2069Leu)
|
rs201193135
|
0.00024
|
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)
|
rs201115064
|
0.00024
|
NM_007315.4(STAT1):c.1248C>G (p.Gly416=)
|
rs140787216
|
0.00024
|
NM_012330.4(KAT6B):c.5749A>G (p.Ile1917Val)
|
rs199662367
|
0.00024
|
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln)
|
rs190490019
|
0.00024
|
NM_022726.4(ELOVL4):c.651C>T (p.Tyr217=)
|
rs199860277
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
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_144997.7(FLCN):c.715C>T (p.Arg239Cys)
|
rs78683075
|
0.00024
|
NM_206933.4(USH2A):c.14642G>C (p.Ser4881Thr)
|
rs200949691
|
0.00024
|
NM_000718.4(CACNA1B):c.5869C>T (p.Arg1957Cys)
|
rs200598077
|
0.00023
|
NM_001009944.3(PKD1):c.9187C>T (p.Arg3063Cys)
|
rs145906459
|
0.00023
|
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys)
|
rs200524526
|
0.00023
|
NM_001242896.3(DEPDC5):c.968A>G (p.Asn323Ser)
|
rs201776005
|
0.00023
|
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala)
|
rs377016580
|
0.00023
|
NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His)
|
rs199781261
|
0.00023
|
NM_001378452.1(ITPR1):c.532A>G (p.Ile178Val)
|
rs188477537
|
0.00023
|
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His)
|
rs200450866
|
0.00023
|
NM_015340.4(LARS2):c.338G>A (p.Arg113Gln)
|
rs138437422
|
0.00023
|
NM_016169.4(SUFU):c.50C>T (p.Ala17Val)
|
rs12780580
|
0.00023
|
NM_020975.6(RET):c.874G>A (p.Val292Met)
|
rs34682185
|
0.00023
|
NM_021076.4(NEFH):c.1036C>T (p.Arg346Cys)
|
rs139219355
|
0.00023
|
NM_080916.3(DGUOK):c.664C>T (p.Leu222=)
|
rs375686551
|
0.00023
|
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)
|
rs375991767
|
0.00023
|
NM_183357.3(ADCY5):c.2645C>T (p.Ala882Val)
|
rs112913957
|
0.00023
|
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)
|
rs150230450
|
0.00023
|
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala)
|
rs140230479
|
0.00022
|
NM_000361.3(THBD):c.282C>G (p.Pro94=)
|
rs538290084
|
0.00022
|
NM_000428.3(LTBP2):c.5402G>A (p.Arg1801His)
|
rs143010135
|
0.00022
|
NM_001039876.3(SYNE4):c.764T>C (p.Ile255Thr)
|
rs199853331
|
0.00022
|
NM_001206927.2(DNAH8):c.9277A>G (p.Ile3093Val)
|
rs139533720
|
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_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_002972.4(SBF1):c.2464G>A (p.Val822Ile)
|
rs201061231
|
0.00022
|
NM_004408.4(DNM1):c.2420C>G (p.Ser807Cys)
|
rs935756107
|
0.00022
|
NM_004960.4(FUS):c.1080C>T (p.Ser360=)
|
rs190724342
|
0.00022
|
NM_005609.4(PYGM):c.2177+7G>A
|
rs201366697
|
0.00022
|
NM_006015.6(ARID1A):c.5491C>G (p.Leu1831Val)
|
rs150534917
|
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_053025.4(MYLK):c.5477C>T (p.Ala1826Val)
|
rs147187907
|
0.00022
|
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala)
|
rs142971568
|
0.00022
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
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_000345.4(SNCA):c.216G>A (p.Thr72=)
|
rs144758871
|
0.00021
|
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=)
|
rs138831474
|
0.00021
|
NM_001242896.3(DEPDC5):c.2672G>C (p.Ser891Thr)
|
rs185576553
|
0.00021
|
NM_001244926.2(PRPF4):c.1504G>A (p.Asp502Asn)
|
rs141207203
|
0.00021
|
NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe)
|
rs568197988
|
0.00021
|
NM_001370298.3(FGD4):c.1923-7A>G
|
rs200542541
|
0.00021
|
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr)
|
rs138269346
|
0.00021
|
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile)
|
rs138834515
|
0.00021
|
NM_002047.4(GARS1):c.408A>G (p.Gln136=)
|
rs200279483
|
0.00021
|
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln)
|
rs147447269
|
0.00021
|
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly)
|
rs200474454
|
0.00021
|
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)
|
rs150339369
|
0.00021
|
NM_005186.4(CAPN1):c.1341+7A>T
|
rs368589277
|
0.00021
|
NM_016204.4(GDF2):c.1290G>A (p.Ter430=)
|
rs139568056
|
0.00021
|
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg)
|
rs138675304
|
0.00021
|
NM_018896.5(CACNA1G):c.6244G>A (p.Val2082Ile)
|
rs752773885
|
0.00021
|
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln)
|
rs141281093
|
0.00021
|
NM_020937.4(FANCM):c.5108A>G (p.His1703Arg)
|
rs146897650
|
0.00021
|
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)
|
rs62626271
|
0.00021
|
NM_022124.6(CDH23):c.551G>A (p.Arg184His)
|
rs201132251
|
0.00021
|
NM_024876.4(COQ8B):c.1364A>G (p.Tyr455Cys)
|
rs144343899
|
0.00021
|
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp)
|
rs141254777
|
0.00021
|
NM_201384.3(PLEC):c.9929C>T (p.Ala3310Val)
|
rs183230983
|
0.00021
|
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val)
|
rs149684063
|
0.00021
|
NM_001097577.3(ANG):c.3G>A (p.Met1Ile)
|
rs201068740
|
0.00020
|
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu)
|
rs368302286
|
0.00020
|
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser)
|
rs72648922
|
0.00020
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)
|
rs200831060
|
0.00020
|
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp)
|
rs200726948
|
0.00020
|
NM_001355436.2(SPTB):c.6484G>A (p.Glu2162Lys)
|
rs375816870
|
0.00020
|
NM_001734.5(C1S):c.1114G>T (p.Asp372Tyr)
|
rs201750214
|
0.00020
|
NM_004082.5(DCTN1):c.837G>A (p.Ala279=)
|
rs72466489
|
0.00020
|
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=)
|
rs878854714
|
0.00020
|
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)
|
rs534886444
|
0.00020
|
NM_020461.4(TUBGCP6):c.5285C>T (p.Pro1762Leu)
|
rs201721812
|
0.00020
|
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu)
|
rs141065357
|
0.00020
|
NM_031418.4(ANO3):c.295C>A (p.Leu99Ile)
|
rs370404701
|
0.00020
|
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His)
|
rs574482100
|
0.00020
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)
|
rs121912863
|
0.00019
|
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu)
|
rs370422650
|
0.00019
|
NM_000540.3(RYR1):c.2160C>G (p.Leu720=)
|
rs200914778
|
0.00019
|
NM_000540.3(RYR1):c.7141G>A (p.Glu2381Lys)
|
rs148426762
|
0.00019
|
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr)
|
rs141467566
|
0.00019
|
NM_001040716.2(PC):c.89G>A (p.Arg30Gln)
|
rs199616332
|
0.00019
|
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)
|
rs138026584
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met)
|
rs142534126
|
0.00019
|
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)
|
rs553367989
|
0.00019
|
NM_001206744.2(TPO):c.9G>A (p.Ala3=)
|
rs61758084
|
0.00019
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro)
|
rs375177753
|
0.00019
|
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys)
|
rs376874956
|
0.00019
|
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile)
|
rs377682563
|
0.00019
|
NM_001365276.2(TNXB):c.9121A>G (p.Lys3041Glu)
|
rs376639281
|
0.00019
|
NM_001378183.1(PIEZO2):c.5897G>A (p.Arg1966His)
|
rs373973800
|
0.00019
|
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr)
|
rs373694009
|
0.00019
|
NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser)
|
rs192863498
|
0.00019
|
NM_001378609.3(OTOGL):c.1823G>A (p.Ser608Asn)
|
rs202156673
|
0.00019
|
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)
|
rs367662394
|
0.00019
|
NM_001614.5(ACTG1):c.803-3T>C
|
rs369438865
|
0.00019
|
NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=)
|
rs55830572
|
0.00019
|
NM_002972.4(SBF1):c.1637-5C>T
|
rs377462059
|
0.00019
|
NM_003282.4(TNNI2):c.61G>A (p.Val21Met)
|
rs200110633
|
0.00019
|
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)
|
rs111513627
|
0.00019
|
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp)
|
rs386833960
|
0.00019
|
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr)
|
rs138272051
|
0.00019
|
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)
|
rs61754478
|
0.00019
|
NM_015046.7(SETX):c.968G>A (p.Ser323Asn)
|
rs372193033
|
0.00019
|
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser)
|
rs368995122
|
0.00019
|
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)
|
rs193030567
|
0.00019
|
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln)
|
rs138265409
|
0.00019
|
NM_080680.3(COL11A2):c.233-8G>T
|
rs375268140
|
0.00019
|
NM_175875.5(SIX5):c.1366C>T (p.Leu456Phe)
|
rs569540038
|
0.00019
|
NM_201384.3(PLEC):c.5633G>A (p.Arg1878Gln)
|
rs373617951
|
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_000038.6(APC):c.5009C>T (p.Ala1670Val)
|
rs202228932
|
0.00018
|
NM_000132.4(F8):c.396A>C (p.Glu132Asp)
|
rs137852388
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro)
|
rs202183386
|
0.00018
|
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=)
|
rs370350821
|
0.00018
|
NM_001110792.2(MECP2):c.429C>G (p.Ala143=)
|
rs61748385
|
0.00018
|
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)
|
rs372304158
|
0.00018
|
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)
|
rs55906845
|
0.00018
|
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)
|
rs376982715
|
0.00018
|
NM_001374828.1(ARID1B):c.980C>G (p.Pro327Arg)
|
rs775385239
|
0.00018
|
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys)
|
rs147834269
|
0.00018
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
NM_022124.6(CDH23):c.5769G>A (p.Lys1923=)
|
rs554353516
|
0.00018
|
NM_144997.7(FLCN):c.-431C>T
|
rs138847774
|
0.00018
|
NM_199242.3(UNC13D):c.1131C>G (p.Ser377Arg)
|
rs142335129
|
0.00018
|
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His)
|
rs372652727
|
0.00018
|
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile)
|
rs147532612
|
0.00018
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His)
|
rs560967532
|
0.00017
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys)
|
rs370404391
|
0.00017
|
NM_001083961.2(WDR62):c.1233+7C>G
|
rs537771936
|
0.00017
|
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)
|
rs727503832
|
0.00017
|
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val)
|
rs370644359
|
0.00017
|
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn)
|
rs200697681
|
0.00017
|
NM_001291303.3(FAT4):c.6977C>T (p.Thr2326Ile)
|
rs200344386
|
0.00017
|
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser)
|
rs202006479
|
0.00017
|
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)
|
rs200257554
|
0.00017
|
NM_014391.3(ANKRD1):c.347C>T (p.Thr116Met)
|
rs142354133
|
0.00017
|
NM_014874.4(MFN2):c.2157G>A (p.Lys719=)
|
rs148441213
|
0.00017
|
NM_016239.4(MYO15A):c.2116G>A (p.Ala706Thr)
|
rs932191004
|
0.00017
|
NM_020451.3(SELENON):c.1638C>T (p.Ile546=)
|
rs201066183
|
0.00017
|
NM_024306.5(FA2H):c.925G>A (p.Val309Ile)
|
rs150427439
|
0.00017
|
NM_130837.3(OPA1):c.70A>G (p.Ile24Val)
|
rs201520438
|
0.00017
|
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)
|
rs139141291
|
0.00017
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys)
|
rs200237798
|
0.00016
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=)
|
rs372502369
|
0.00016
|
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr)
|
rs1799792
|
0.00016
|
NM_000441.2(SLC26A4):c.1804-6G>A
|
rs377713770
|
0.00016
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
NM_001170629.2(CHD8):c.5665C>T (p.Arg1889Cys)
|
rs201802014
|
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_001194998.2(CEP152):c.3394C>G (p.Gln1132Glu)
|
rs199917740
|
0.00016
|
NM_001205293.3(CACNA1E):c.6500G>A (p.Arg2167Gln)
|
rs370385055
|
0.00016
|
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)
|
rs200497615
|
0.00016
|
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys)
|
rs367774903
|
0.00016
|
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His)
|
rs371538664
|
0.00016
|
NM_001267550.2(TTN):c.53881+5G>A
|
rs753527304
|
0.00016
|
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His)
|
rs370135374
|
0.00016
|
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His)
|
rs115867512
|
0.00016
|
NM_001267550.2(TTN):c.63109C>T (p.Arg21037Cys)
|
rs191549948
|
0.00016
|
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln)
|
rs200141081
|
0.00016
|
NM_001330260.2(SCN8A):c.5795G>C (p.Arg1932Pro)
|
rs371766742
|
0.00016
|
NM_001349338.3(FOXP1):c.1217C>G (p.Thr406Ser)
|
rs200355554
|
0.00016
|
NM_001378030.1(CCDC78):c.268-3C>T
|
rs371386354
|
0.00016
|
NM_001378452.1(ITPR1):c.4843-7G>A
|
rs184969640
|
0.00016
|
NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly)
|
rs148545460
|
0.00016
|
NM_003482.4(KMT2D):c.1010C>T (p.Ser337Leu)
|
rs200245957
|
0.00016
|
NM_004260.4(RECQL4):c.1391-4G>T
|
rs190388213
|
0.00016
|
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg)
|
rs200421954
|
0.00016
|
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)
|
rs200476515
|
0.00016
|
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu)
|
rs201044262
|
0.00016
|
NM_006231.4(POLE):c.3862G>A (p.Ala1288Thr)
|
rs200398117
|
0.00016
|
NM_006946.4(SPTBN2):c.3374G>A (p.Arg1125Gln)
|
rs375601930
|
0.00016
|
NM_014813.3(LRIG2):c.1648C>T (p.Arg550Cys)
|
rs201326654
|
0.00016
|
NM_015046.7(SETX):c.6013G>A (p.Val2005Met)
|
rs148568105
|
0.00016
|
NM_015909.4(NBAS):c.5983C>G (p.Arg1995Gly)
|
rs767134813
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)
|
rs141854925
|
0.00016
|
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met)
|
rs368106957
|
0.00016
|
NM_032634.4(PIGO):c.1132C>T (p.Leu378Phe)
|
rs746870615
|
0.00016
|
NM_033004.4(NLRP1):c.2142C>G (p.His714Gln)
|
rs147100948
|
0.00016
|
NM_053013.4(ENO3):c.249C>T (p.Ser83=)
|
rs145859308
|
0.00016
|
NM_053025.4(MYLK):c.1569C>T (p.Cys523=)
|
rs150378280
|
0.00016
|
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met)
|
rs201076557
|
0.00016
|
NM_145200.5(CABP4):c.605C>T (p.Thr202Met)
|
rs150929930
|
0.00016
|
NM_201384.3(PLEC):c.4676G>A (p.Arg1559Gln)
|
rs371895113
|
0.00016
|
NM_201384.3(PLEC):c.5029G>A (p.Gly1677Ser)
|
rs373952777
|
0.00016
|
NM_201384.3(PLEC):c.9692G>A (p.Arg3231His)
|
rs377610697
|
0.00016
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
NM_000492.4(CFTR):c.360G>A (p.Ala120=)
|
rs1800077
|
0.00015
|
NM_000501.4(ELN):c.1675G>A (p.Val559Ile)
|
rs560081099
|
0.00015
|
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His)
|
rs201718767
|
0.00015
|
NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met)
|
rs778274864
|
0.00015
|
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu)
|
rs200132226
|
0.00015
|
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)
|
rs186234393
|
0.00015
|
NM_001371279.1(REEP1):c.843C>T (p.Thr281=)
|
rs201177149
|
0.00015
|
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn)
|
rs372989292
|
0.00015
|
NM_004655.4(AXIN2):c.344A>G (p.Asn115Ser)
|
rs370257532
|
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_006031.6(PCNT):c.1370A>G (p.Glu457Gly)
|
rs147868583
|
0.00015
|
NM_006514.4(SCN10A):c.4849G>T (p.Val1617Phe)
|
rs375940680
|
0.00015
|
NM_014727.3(KMT2B):c.5728C>G (p.Pro1910Ala)
|
rs377408813
|
0.00015
|
NM_021076.4(NEFH):c.1169A>C (p.Asn390Thr)
|
rs148653339
|
0.00015
|
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His)
|
rs147667464
|
0.00015
|
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)
|
rs201509501
|
0.00014
|
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser)
|
rs140646380
|
0.00014
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr)
|
rs782481491
|
0.00014
|
NM_000268.4(NF2):c.107A>G (p.Asn36Ser)
|
rs372279458
|
0.00014
|
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr)
|
rs752000790
|
0.00014
|
NM_000875.5(IGF1R):c.605A>G (p.Asn202Ser)
|
rs145668206
|
0.00014
|
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=)
|
rs370868704
|
0.00014
|
NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=)
|
rs376684786
|
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_001171.6(ABCC6):c.2995+6C>T
|
rs373896559
|
0.00014
|
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)
|
rs376634193
|
0.00014
|
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)
|
rs397517478
|
0.00014
|
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)
|
rs141961878
|
0.00014
|
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys)
|
rs199620003
|
0.00014
|
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu)
|
rs184815126
|
0.00014
|
NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln)
|
rs374656017
|
0.00014
|
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu)
|
rs146199720
|
0.00014
|
NM_001368894.2(PAX6):c.807+5C>T
|
rs376564909
|
0.00014
|
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp)
|
rs201841311
|
0.00014
|
NM_001371727.1(GABRB2):c.1159C>T (p.Arg387Trp)
|
rs140795978
|
0.00014
|
NM_001377265.1(MAPT):c.1070C>T (p.Ser357Leu)
|
rs199644237
|
0.00014
|
NM_001458.5(FLNC):c.3242C>T (p.Ala1081Val)
|
rs200169573
|
0.00014
|
NM_001853.4(COL9A3):c.331C>T (p.Pro111Ser)
|
rs374503994
|
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_006059.4(LAMC3):c.1688G>A (p.Arg563Gln)
|
rs150171154
|
0.00014
|
NM_006080.3(SEMA3A):c.1382T>C (p.Val461Ala)
|
rs144690677
|
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_014363.6(SACS):c.11048A>G (p.Asn3683Ser)
|
rs138609508
|
0.00014
|
NM_015311.3(OBSL1):c.3850G>A (p.Gly1284Ser)
|
rs74589174
|
0.00014
|
NM_015346.4(ZFYVE26):c.2396C>T (p.Thr799Met)
|
rs200179480
|
0.00014
|
NM_017668.3(NDE1):c.990G>A (p.Arg330=)
|
rs143588920
|
0.00014
|
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu)
|
rs145199888
|
0.00014
|
NM_031418.4(ANO3):c.704A>G (p.Tyr235Cys)
|
rs144792604
|
0.00014
|
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met)
|
rs201007778
|
0.00014
|
NM_033004.4(NLRP1):c.2341C>A (p.Pro781Thr)
|
rs201368394
|
0.00014
|
NM_033100.4(CDHR1):c.1187A>G (p.Asn396Ser)
|
rs145353541
|
0.00014
|
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=)
|
rs371602931
|
0.00014
|
NM_152722.5(HEPACAM):c.803+8T>C
|
rs374953883
|
0.00014
|
NM_170784.3(MKKS):c.1553G>A (p.Arg518His)
|
rs149051148
|
0.00014
|
NM_173630.4(RTTN):c.5055A>G (p.Leu1685=)
|
rs372431222
|
0.00014
|
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn)
|
rs142747430
|
0.00014
|
NM_201525.4(ADGRG1):c.1287-6G>A
|
rs112805221
|
0.00014
|
NM_206933.4(USH2A):c.1581C>T (p.Cys527=)
|
rs140331348
|
0.00014
|
NM_000071.3(CBS):c.133C>T (p.Arg45Trp)
|
rs201372812
|
0.00013
|
NM_000090.4(COL3A1):c.3019G>A (p.Ala1007Thr)
|
rs201220788
|
0.00013
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
NM_000540.3(RYR1):c.2654G>A (p.Arg885His)
|
rs370634440
|
0.00013
|
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His)
|
rs147303895
|
0.00013
|
NM_000744.7(CHRNA4):c.1459C>T (p.Arg487Trp)
|
rs200200279
|
0.00013
|
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)
|
rs193922624
|
0.00013
|
NM_001039591.3(USP9X):c.6360A>G (p.Ile2120Met)
|
rs201128029
|
0.00013
|
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)
|
rs397517783
|
0.00013
|
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu)
|
rs199778910
|
0.00013
|
NM_001267550.2(TTN):c.20418A>C (p.Lys6806Asn)
|
rs768932465
|
0.00013
|
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys)
|
rs72650035
|
0.00013
|
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser)
|
rs199837769
|
0.00013
|
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)
|
rs375693396
|
0.00013
|
NM_001365276.2(TNXB):c.7694C>T (p.Ala2565Val)
|
rs199719197
|
0.00013
|
NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met)
|
rs529485424
|
0.00013
|
NM_001365999.1(SZT2):c.8255G>A (p.Arg2752His)
|
rs150591561
|
0.00013
|
NM_001367624.2(ZNF469):c.11107G>A (p.Val3703Met)
|
rs151127652
|
0.00013
|
NM_001386125.1(OBSCN):c.3185C>T (p.Ser1062Phe)
|
rs200058427
|
0.00013
|
NM_001457.4(FLNB):c.6028C>T (p.Arg2010Cys)
|
rs138034708
|
0.00013
|
NM_005751.5(AKAP9):c.2311G>A (p.Ala771Thr)
|
rs148267537
|
0.00013
|
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr)
|
rs5811
|
0.00013
|
NM_015570.4(AUTS2):c.467G>A (p.Arg156His)
|
rs141278123
|
0.00013
|
NM_020361.5(CPA6):c.1026C>G (p.Pro342=)
|
rs372964579
|
0.00013
|
NM_021830.5(TWNK):c.434C>T (p.Ala145Val)
|
rs143938897
|
0.00013
|
NM_024422.6(DSC2):c.2298G>C (p.Gln766His)
|
rs139558481
|
0.00013
|
NM_053025.4(MYLK):c.2629G>A (p.Val877Met)
|
rs34542174
|
0.00013
|
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His)
|
rs201562272
|
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_198576.4(AGRN):c.1384+6C>T
|
rs763495287
|
0.00013
|
NM_000089.4(COL1A2):c.2566-6A>G
|
rs141088934
|
0.00012
|
NM_000245.4(MET):c.3798+5T>C
|
rs368150874
|
0.00012
|
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg)
|
rs200263975
|
0.00012
|
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)
|
rs372297364
|
0.00012
|
NM_001206999.2(CIT):c.4677C>T (p.Ala1559=)
|
rs372311430
|
0.00012
|
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)
|
rs560537668
|
0.00012
|
NM_001267550.2(TTN):c.1943G>C (p.Arg648Thr)
|
rs550441902
|
0.00012
|
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met)
|
rs367700246
|
0.00012
|
NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr)
|
rs78509062
|
0.00012
|
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys)
|
rs200028088
|
0.00012
|
NM_001291303.3(FAT4):c.13193T>C (p.Ile4398Thr)
|
rs200729108
|
0.00012
|
NM_001367624.2(ZNF469):c.5266G>A (p.Ala1756Thr)
|
rs371328036
|
0.00012
|
NM_001458.5(FLNC):c.1568T>C (p.Val523Ala)
|
rs182845462
|
0.00012
|
NM_002439.5(MSH3):c.3181A>G (p.Arg1061Gly)
|
rs746782115
|
0.00012
|
NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu)
|
rs376076241
|
0.00012
|
NM_013336.4(SEC61A1):c.76-4C>G
|
rs189545025
|
0.00012
|
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)
|
rs140116005
|
0.00012
|
NM_015178.3(RHOBTB2):c.788C>T (p.Pro263Leu)
|
rs143278893
|
0.00012
|
NM_020191.4(MRPS22):c.767G>A (p.Arg256His)
|
rs149674843
|
0.00012
|
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)
|
rs201332554
|
0.00012
|
NM_144670.6(A2ML1):c.2464G>A (p.Val822Ile)
|
rs201752325
|
0.00012
|
NM_144997.7(FLCN):c.977C>T (p.Pro326Leu)
|
rs138031155
|
0.00012
|
NM_198129.4(LAMA3):c.6389C>T (p.Ser2130Phe)
|
rs199684626
|
0.00012
|
NM_198965.2(PTHLH):c.-1G>A
|
rs146647632
|
0.00012
|
NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln)
|
rs375724891
|
0.00012
|
NM_000062.3(SERPING1):c.1453C>G (p.Gln485Glu)
|
rs143997164
|
0.00011
|
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu)
|
rs781163705
|
0.00011
|
NM_000094.4(COL7A1):c.3232C>T (p.Arg1078Cys)
|
rs149154108
|
0.00011
|
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)
|
rs35107951
|
0.00011
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser)
|
rs200953311
|
0.00011
|
NM_001005361.3(DNM2):c.2592C>T (p.Ala864=)
|
rs373161548
|
0.00011
|
NM_001080414.4(CCDC88C):c.4412G>A (p.Arg1471His)
|
rs201606038
|
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_001080517.3(SETD5):c.1546G>A (p.Glu516Lys)
|
rs147867570
|
0.00011
|
NM_001148.6(ANK2):c.9841C>G (p.Gln3281Glu)
|
rs372534074
|
0.00011
|
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu)
|
rs201905405
|
0.00011
|
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr)
|
rs201112096
|
0.00011
|
NM_001267550.2(TTN):c.16121G>A (p.Cys5374Tyr)
|
rs375577529
|
0.00011
|
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)
|
rs397517500
|
0.00011
|
NM_001267550.2(TTN):c.227G>C (p.Gly76Ala)
|
rs138750421
|
0.00011
|
NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu)
|
rs201945791
|
0.00011
|
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser)
|
rs773035917
|
0.00011
|
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)
|
rs377571654
|
0.00011
|
NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=)
|
rs201380749
|
0.00011
|
NM_001291303.3(FAT4):c.6050T>C (p.Val2017Ala)
|
rs188126059
|
0.00011
|
NM_001330260.2(SCN8A):c.5761A>C (p.Thr1921Pro)
|
rs368796221
|
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_001540.5(HSPB1):c.16G>A (p.Val6Ile)
|
rs1049324
|
0.00011
|
NM_001961.4(EEF2):c.811G>A (p.Gly271Ser)
|
rs200480185
|
0.00011
|
NM_002253.4(KDR):c.2012G>A (p.Gly671Glu)
|
rs149740758
|
0.00011
|
NM_004562.3(PRKN):c.1372A>C (p.Met458Leu)
|
rs182893847
|
0.00011
|
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu)
|
rs868950793
|
0.00011
|
NM_006231.4(POLE):c.4169G>A (p.Arg1390His)
|
rs200776293
|
0.00011
|
NM_006514.4(SCN10A):c.599C>T (p.Ala200Val)
|
rs554062977
|
0.00011
|
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His)
|
rs145522851
|
0.00011
|
NM_007078.3(LDB3):c.794G>A (p.Arg265His)
|
rs45458895
|
0.00011
|
NM_007254.4(PNKP):c.579-4G>A
|
rs371834726
|
0.00011
|
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg)
|
rs147268052
|
0.00011
|
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys)
|
rs201798841
|
0.00011
|
NM_014365.3(HSPB8):c.503C>T (p.Ala168Val)
|
rs373049356
|
0.00011
|
NM_015346.4(ZFYVE26):c.5321-3C>T
|
rs376234357
|
0.00011
|
NM_015559.3(SETBP1):c.3956T>C (p.Met1319Thr)
|
rs372615623
|
0.00011
|
NM_021076.4(NEFH):c.883+7A>G
|
rs776050286
|
0.00011
|
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe)
|
rs188490457
|
0.00011
|
NM_144687.4(NLRP12):c.3000G>C (p.Leu1000Phe)
|
rs201437704
|
0.00011
|
NM_170606.3(KMT2C):c.6530A>G (p.Gln2177Arg)
|
rs201637035
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_173500.4(TTBK2):c.1408T>C (p.Cys470Arg)
|
rs373500080
|
0.00011
|
NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr)
|
rs36104367
|
0.00011
|
NM_178857.6(RP1L1):c.212G>A (p.Arg71His)
|
rs200996822
|
0.00011
|
NM_198239.2(CCN6):c.131G>A (p.Arg44His)
|
rs782703789
|
0.00011
|
NM_000033.4(ABCD1):c.54G>A (p.Thr18=)
|
rs781855598
|
0.00010
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
NM_000243.3(MEFV):c.1043G>A (p.Arg348His)
|
rs104895198
|
0.00010
|
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)
|
rs63751225
|
0.00010
|
NM_000260.4(MYO7A):c.5356T>A (p.Ser1786Thr)
|
rs374576916
|
0.00010
|
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met)
|
rs144182921
|
0.00010
|
NM_000334.4(SCN4A):c.5468C>G (p.Pro1823Arg)
|
rs376833596
|
0.00010
|
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)
|
rs368980118
|
0.00010
|
NM_000501.4(ELN):c.460G>A (p.Val154Met)
|
rs145669576
|
0.00010
|
NM_000540.3(RYR1):c.418G>A (p.Ala140Thr)
|
rs142474192
|
0.00010
|
NM_001134407.3(GRIN2A):c.3535T>G (p.Ser1179Ala)
|
rs142670870
|
0.00010
|
NM_001148.6(ANK2):c.10805G>A (p.Arg3602Gln)
|
rs374991526
|
0.00010
|
NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu)
|
rs201565932
|
0.00010
|
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)
|
rs369544339
|
0.00010
|
NM_001267550.2(TTN):c.24639A>C (p.Gln8213His)
|
rs397517510
|
0.00010
|
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly)
|
rs200165636
|
0.00010
|
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)
|
rs200778464
|
0.00010
|
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile)
|
rs369476725
|
0.00010
|
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu)
|
rs142453163
|
0.00010
|
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile)
|
rs727504672
|
0.00010
|
NM_001267550.2(TTN):c.98807G>A (p.Arg32936His)
|
rs774296358
|
0.00010
|
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val)
|
rs199592861
|
0.00010
|
NM_001330078.2(NRXN1):c.749T>A (p.Phe250Tyr)
|
rs200646155
|
0.00010
|
NM_001376.5(DYNC1H1):c.13315G>A (p.Glu4439Lys)
|
rs142883042
|
0.00010
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00010
|
NM_006514.4(SCN10A):c.1661T>C (p.Leu554Pro)
|
rs138404783
|
0.00010
|
NM_006514.4(SCN10A):c.2554G>A (p.Glu852Lys)
|
rs375274122
|
0.00010
|
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530
|
0.00010
|
NM_015335.5(MED13L):c.656C>T (p.Thr219Met)
|
rs191743300
|
0.00010
|
NM_015425.6(POLR1A):c.2969+8G>A
|
rs376999911
|
0.00010
|
NM_015884.4(MBTPS2):c.291G>A (p.Thr97=)
|
rs143335256
|
0.00010
|
NM_020738.4(KIDINS220):c.207+3A>G
|
rs374940372
|
0.00010
|
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=)
|
rs757811625
|
0.00010
|
NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro)
|
rs139714761
|
0.00010
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
NM_058246.4(DNAJB6):c.602G>A (p.Arg201Lys)
|
rs373070679
|
0.00010
|
NM_080680.3(COL11A2):c.2417G>A (p.Arg806His)
|
rs200552277
|
0.00010
|
NM_144992.5(VWA3B):c.3471G>A (p.Ala1157=)
|
rs146673560
|
0.00010
|
NM_201384.3(PLEC):c.6657C>T (p.Ala2219=)
|
rs762600030
|
0.00010
|
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)
|
rs150060240
|
0.00010
|
NM_000057.4(BLM):c.2293G>A (p.Val765Ile)
|
rs191789336
|
0.00009
|
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)
|
rs80358572
|
0.00009
|
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val)
|
rs74047012
|
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_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys)
|
rs72654799
|
0.00009
|
NM_000135.4(FANCA):c.1900+7T>A
|
rs377401016
|
0.00009
|
NM_000144.5(FXN):c.384+8T>C
|
rs367974156
|
0.00009
|
NM_000156.6(GAMT):c.587C>T (p.Ala196Val)
|
rs565109128
|
0.00009
|
NM_000169.3(GLA):c.945C>T (p.Asp315=)
|
rs151208856
|
0.00009
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile)
|
rs199472677
|
0.00009
|
NM_000231.3(SGCG):c.506-7T>G
|
rs774582375
|
0.00009
|
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=)
|
rs111033376
|
0.00009
|
NM_000302.4(PLOD1):c.1203-3C>T
|
rs376288573
|
0.00009
|
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr)
|
rs148992508
|
0.00009
|
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp)
|
rs759982229
|
0.00009
|
NM_000350.3(ABCA4):c.573C>T (p.Phe191=)
|
rs374454045
|
0.00009
|
NM_000371.4(TTR):c.354C>T (p.Asn118=)
|
rs11541797
|
0.00009
|
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln)
|
rs192057022
|
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_000726.5(CACNB4):c.1031G>A (p.Arg344Gln)
|
rs776608168
|
0.00009
|
NM_001005361.3(DNM2):c.633C>T (p.Asp211=)
|
rs200191870
|
0.00009
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
NM_001065.4(TNFRSF1A):c.887G>C (p.Ser296Thr)
|
rs770324989
|
0.00009
|
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr)
|
rs193922677
|
0.00009
|
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn)
|
rs574740801
|
0.00009
|
NM_001267550.2(TTN):c.102353G>A (p.Arg34118Gln)
|
rs551905996
|
0.00009
|
NM_001267550.2(TTN):c.16581C>T (p.Val5527=)
|
rs373179717
|
0.00009
|
NM_001267550.2(TTN):c.17184A>G (p.Glu5728=)
|
rs200984007
|
0.00009
|
NM_001267550.2(TTN):c.2230G>A (p.Ala744Thr)
|
rs144639994
|
0.00009
|
NM_001267550.2(TTN):c.2360T>C (p.Ile787Thr)
|
rs143444636
|
0.00009
|
NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala)
|
rs564353179
|
0.00009
|
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala)
|
rs370067597
|
0.00009
|
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln)
|
rs142395261
|
0.00009
|
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro)
|
rs369678018
|
0.00009
|
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)
|
rs372812312
|
0.00009
|
NM_001267550.2(TTN):c.72826A>T (p.Thr24276Ser)
|
rs373204984
|
0.00009
|
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp)
|
rs534003014
|
0.00009
|
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys)
|
rs199501185
|
0.00009
|
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr)
|
rs201023432
|
0.00009
|
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu)
|
rs755088564
|
0.00009
|
NM_001368894.2(PAX6):c.465C>G (p.Gly155=)
|
rs139803630
|
0.00009
|
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu)
|
rs764197422
|
0.00009
|
NM_001384732.1(CPLANE1):c.2446C>G (p.Leu816Val)
|
rs192335673
|
0.00009
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
0.00009
|
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)
|
rs202050092
|
0.00009
|
NM_002528.7(NTHL1):c.607C>T (p.Leu203=)
|
rs369076851
|
0.00009
|
NM_004447.6(EPS8):c.1822A>C (p.Lys608Gln)
|
rs200844984
|
0.00009
|
NM_004519.4(KCNQ3):c.2237C>T (p.Thr746Met)
|
rs375833070
|
0.00009
|
NM_005045.4(RELN):c.4689C>T (p.Asp1563=)
|
rs138694965
|
0.00009
|
NM_005422.4(TECTA):c.4163G>A (p.Arg1388His)
|
rs150016625
|
0.00009
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
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_006031.6(PCNT):c.9099+8G>T
|
rs369178196
|
0.00009
|
NM_006231.4(POLE):c.5769C>T (p.Gly1923=)
|
rs375198950
|
0.00009
|
NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His)
|
rs377663856
|
0.00009
|
NM_007327.4(GRIN1):c.610G>A (p.Val204Met)
|
rs140422926
|
0.00009
|
NM_012452.3(TNFRSF13B):c.577T>C (p.Cys193Arg)
|
rs764125338
|
0.00009
|
NM_014363.6(SACS):c.5744A>G (p.His1915Arg)
|
rs144822691
|
0.00009
|
NM_014727.3(KMT2B):c.886G>A (p.Gly296Ser)
|
rs201417711
|
0.00009
|
NM_015100.4(POGZ):c.407A>G (p.Asn136Ser)
|
rs141132016
|
0.00009
|
NM_015311.3(OBSL1):c.342C>T (p.Ala114=)
|
rs760053992
|
0.00009
|
NM_015726.4(DCAF8):c.1233T>C (p.Ile411=)
|
rs142352428
|
0.00009
|
NM_015909.4(NBAS):c.4302T>C (p.Asp1434=)
|
rs371633490
|
0.00009
|
NM_020821.3(VPS13C):c.864A>G (p.Ile288Met)
|
rs751295864
|
0.00009
|
NM_022124.6(CDH23):c.3070G>A (p.Val1024Met)
|
rs397517319
|
0.00009
|
NM_024426.6(WT1):c.421C>T (p.Pro141Ser)
|
rs750548251
|
0.00009
|
NM_024577.4(SH3TC2):c.1002-7G>A
|
rs752528409
|
0.00009
|
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile)
|
rs780569649
|
0.00009
|
NM_078470.6(COX15):c.106C>T (p.Arg36Cys)
|
rs151116399
|
0.00009
|
NM_144599.5(NIPA1):c.266C>T (p.Ala89Val)
|
rs548931873
|
0.00009
|
NM_181303.2(NLGN3):c.10C>T (p.Arg4Trp)
|
rs376877146
|
0.00009
|
NM_182961.4(SYNE1):c.2427G>A (p.Glu809=)
|
rs749509412
|
0.00009
|
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val)
|
rs201922111
|
0.00009
|
NM_206933.4(USH2A):c.11013T>G (p.Pro3671=)
|
rs777699434
|
0.00009
|
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)
|
rs140387675
|
0.00008
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln)
|
rs372436488
|
0.00008
|
NM_000081.4(LYST):c.7627+6A>T
|
rs749282192
|
0.00008
|
NM_000094.4(COL7A1):c.5459C>G (p.Pro1820Arg)
|
rs143037856
|
0.00008
|
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)
|
rs45560242
|
0.00008
|
NM_000346.4(SOX9):c.685+7C>T
|
rs370951695
|
0.00008
|
NM_000435.3(NOTCH3):c.3785G>T (p.Arg1262Leu)
|
rs143684274
|
0.00008
|
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)
|
rs142548565
|
0.00008
|
NM_001005273.3(CHD3):c.5798C>T (p.Ala1933Val)
|
rs140448992
|
0.00008
|
NM_001082486.2(ACD):c.493+7T>C
|
rs199626332
|
0.00008
|
NM_001113491.2(SEPTIN9):c.385C>T (p.Arg129Trp)
|
rs201442609
|
0.00008
|
NM_001145809.2(MYH14):c.3778G>A (p.Gly1260Ser)
|
rs200272339
|
0.00008
|
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala)
|
rs182207224
|
0.00008
|
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met)
|
rs373655492
|
0.00008
|
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=)
|
rs202141158
|
0.00008
|
NM_001267550.2(TTN):c.62723G>A (p.Arg20908Gln)
|
rs377203669
|
0.00008
|
NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp)
|
rs201463708
|
0.00008
|
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys)
|
rs371807358
|
0.00008
|
NM_001349338.3(FOXP1):c.1135G>A (p.Ala379Thr)
|
rs149759021
|
0.00008
|
NM_001363711.2(DUOX2):c.1189C>A (p.Gln397Lys)
|
rs200989933
|
0.00008
|
NM_001365999.1(SZT2):c.5377G>A (p.Glu1793Lys)
|
rs143185010
|
0.00008
|
NM_002471.4(MYH6):c.4651-4C>A
|
rs766134513
|
0.00008
|
NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser)
|
rs138129490
|
0.00008
|
NM_005984.5(SLC25A1):c.526+7C>T
|
rs377553268
|
0.00008
|
NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser)
|
rs748723735
|
0.00008
|
NM_007175.8(ERLIN2):c.384C>T (p.Cys128=)
|
rs200292614
|
0.00008
|
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)
|
rs562517792
|
0.00008
|
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)
|
rs80357465
|
0.00008
|
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys)
|
rs150301327
|
0.00008
|
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr)
|
rs61733203
|
0.00008
|
NM_016580.4(PCDH12):c.1182C>A (p.Ser394Arg)
|
rs150994175
|
0.00008
|
NM_017780.4(CHD7):c.1324G>A (p.Ala442Thr)
|
rs368086966
|
0.00008
|
NM_018105.3(THAP1):c.590G>A (p.Gly197Asp)
|
rs140694378
|
0.00008
|
NM_018136.5(ASPM):c.6131A>G (p.Asn2044Ser)
|
rs145645602
|
0.00008
|
NM_018896.5(CACNA1G):c.3246G>A (p.Glu1082=)
|
rs769342382
|
0.00008
|
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=)
|
rs375518094
|
0.00008
|
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr)
|
rs146218439
|
0.00008
|
NM_033109.5(PNPT1):c.1771A>C (p.Lys591Gln)
|
rs542676905
|
0.00008
|
NM_130837.3(OPA1):c.2636G>A (p.Arg879Gln)
|
rs200412464
|
0.00008
|
NM_133379.5(TTN):c.13799A>C (p.Glu4600Ala)
|
rs200760091
|
0.00008
|
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)
|
rs147474792
|
0.00008
|
NM_000017.4(ACADS):c.327C>T (p.Cys109=)
|
rs144083614
|
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_000088.4(COL1A1):c.768C>T (p.Pro256=)
|
rs199891984
|
0.00007
|
NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys)
|
rs200849753
|
0.00007
|
NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr)
|
rs782787324
|
0.00007
|
NM_001037.5(SCN1B):c.449-3C>A
|
rs370937269
|
0.00007
|
NM_001148.6(ANK2):c.6505G>A (p.Val2169Ile)
|
rs149292242
|
0.00007
|
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp)
|
rs373914077
|
0.00007
|
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=)
|
rs541125667
|
0.00007
|
NM_001267550.2(TTN):c.103828C>T (p.Arg34610Cys)
|
rs376443365
|
0.00007
|
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val)
|
rs758458467
|
0.00007
|
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile)
|
rs199860952
|
0.00007
|
NM_001267550.2(TTN):c.79344G>T (p.Val26448=)
|
rs369875680
|
0.00007
|
NM_001267550.2(TTN):c.93725G>A (p.Arg31242His)
|
rs369899675
|
0.00007
|
NM_001354768.3(NRL):c.199C>T (p.Pro67Ser)
|
rs199691910
|
0.00007
|
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His)
|
rs567038987
|
0.00007
|
NM_002047.4(GARS1):c.562G>A (p.Val188Ile)
|
rs376772628
|
0.00007
|
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser)
|
rs202244328
|
0.00007
|
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val)
|
rs754780894
|
0.00007
|
NM_004519.4(KCNQ3):c.2144A>G (p.His715Arg)
|
rs112314858
|
0.00007
|
NM_004519.4(KCNQ3):c.2338C>T (p.Arg780Cys)
|
rs138852641
|
0.00007
|
NM_005157.6(ABL1):c.2350C>G (p.Pro784Ala)
|
rs201376463
|
0.00007
|
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr)
|
rs776146535
|
0.00007
|
NM_006514.4(SCN10A):c.3340T>C (p.Cys1114Arg)
|
rs771127702
|
0.00007
|
NM_006946.4(SPTBN2):c.5474C>T (p.Pro1825Leu)
|
rs140642213
|
0.00007
|
NM_014244.5(ADAMTS2):c.2860G>A (p.Val954Met)
|
rs368363548
|
0.00007
|
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)
|
rs148925505
|
0.00007
|
NM_017617.5(NOTCH1):c.4927G>A (p.Ala1643Thr)
|
rs566680728
|
0.00007
|
NM_018896.5(CACNA1G):c.3010G>A (p.Asp1004Asn)
|
rs377336879
|
0.00007
|
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met)
|
rs756414393
|
0.00007
|
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr)
|
rs202161423
|
0.00007
|
NM_182961.4(SYNE1):c.2448G>A (p.Pro816=)
|
rs375111758
|
0.00007
|
NM_201384.3(PLEC):c.12985C>T (p.Arg4329Cys)
|
rs375593618
|
0.00007
|
NM_201384.3(PLEC):c.9896G>A (p.Arg3299Gln)
|
rs368318946
|
0.00007
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val)
|
rs369139165
|
0.00006
|
NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln)
|
rs530655602
|
0.00006
|
NM_000071.3(CBS):c.954+7C>T
|
rs554429567
|
0.00006
|
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe)
|
rs201403066
|
0.00006
|
NM_000094.4(COL7A1):c.1325G>A (p.Arg442His)
|
rs146415546
|
0.00006
|
NM_000138.5(FBN1):c.7204+7C>G
|
rs371763964
|
0.00006
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
NM_000142.5(FGFR3):c.1513G>A (p.Val505Ile)
|
rs144546453
|
0.00006
|
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)
|
rs376243329
|
0.00006
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln)
|
rs146378237
|
0.00006
|
NM_000360.4(TH):c.104T>C (p.Ile35Thr)
|
rs747420332
|
0.00006
|
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp)
|
rs753170185
|
0.00006
|
NM_000443.4(ABCB4):c.2340C>T (p.Gly780=)
|
rs148865252
|
0.00006
|
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn)
|
rs368547224
|
0.00006
|
NM_000540.3(RYR1):c.10440+7G>A
|
rs750987143
|
0.00006
|
NM_000540.3(RYR1):c.3951C>T (p.Pro1317=)
|
rs745447236
|
0.00006
|
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys)
|
rs746818096
|
0.00006
|
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met)
|
rs772687631
|
0.00006
|
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His)
|
rs45517392
|
0.00006
|
NM_000551.4(VHL):c.89G>A (p.Gly30Glu)
|
rs1064793290
|
0.00006
|
NM_000719.7(CACNA1C):c.5423C>T (p.Ala1808Val)
|
rs745997744
|
0.00006
|
NM_000834.5(GRIN2B):c.1768G>A (p.Ala590Thr)
|
rs145021339
|
0.00006
|
NM_000834.5(GRIN2B):c.3047G>A (p.Arg1016Lys)
|
rs141109968
|
0.00006
|
NM_001036.6(RYR3):c.13207C>T (p.Leu4403=)
|
rs369324246
|
0.00006
|
NM_001037.5(SCN1B):c.415G>A (p.Val139Ile)
|
rs560827790
|
0.00006
|
NM_001084.5(PLOD3):c.805G>A (p.Val269Ile)
|
rs377320080
|
0.00006
|
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly)
|
rs138211345
|
0.00006
|
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr)
|
rs201666606
|
0.00006
|
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)
|
rs751947412
|
0.00006
|
NM_001127222.2(CACNA1A):c.6190-3C>A
|
rs368480650
|
0.00006
|
NM_001148.6(ANK2):c.11354A>G (p.Gln3785Arg)
|
rs150808807
|
0.00006
|
NM_001165963.4(SCN1A):c.80G>C (p.Arg27Thr)
|
rs121917906
|
0.00006
|
NM_001182.5(ALDH7A1):c.-13T>G
|
rs774190967
|
0.00006
|
NM_001220.5(CAMK2B):c.1556C>T (p.Pro519Leu)
|
rs776719958
|
0.00006
|
NM_001244008.2(KIF1A):c.883-3C>T
|
rs111507743
|
0.00006
|
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln)
|
rs149391616
|
0.00006
|
NM_001267550.2(TTN):c.103772G>A (p.Arg34591Gln)
|
rs778021095
|
0.00006
|
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)
|
rs727504476
|
0.00006
|
NM_001267550.2(TTN):c.17893T>C (p.Tyr5965His)
|
rs752226947
|
0.00006
|
NM_001267550.2(TTN):c.21521C>T (p.Ala7174Val)
|
rs764832849
|
0.00006
|
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe)
|
rs772882862
|
0.00006
|
NM_001267550.2(TTN):c.41812A>G (p.Met13938Val)
|
rs201725483
|
0.00006
|
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val)
|
rs373305248
|
0.00006
|
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)
|
rs72646819
|
0.00006
|
NM_001267550.2(TTN):c.64673-5T>C
|
rs530496528
|
0.00006
|
NM_001267550.2(TTN):c.64734C>T (p.Ser21578=)
|
rs773855604
|
0.00006
|
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg)
|
rs374119634
|
0.00006
|
NM_001291303.3(FAT4):c.2273C>T (p.Ala758Val)
|
rs570502199
|
0.00006
|
NM_001303.4(COX10):c.260C>T (p.Thr87Ile)
|
rs144000161
|
0.00006
|
NM_001330078.2(NRXN1):c.339C>T (p.Ala113=)
|
rs767682431
|
0.00006
|
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln)
|
rs369346315
|
0.00006
|
NM_001365276.2(TNXB):c.147G>A (p.Gly49=)
|
rs370126465
|
0.00006
|
NM_001365276.2(TNXB):c.5780T>C (p.Ile1927Thr)
|
rs751320202
|
0.00006
|
NM_001367624.2(ZNF469):c.7090G>A (p.Ala2364Thr)
|
rs957383204
|
0.00006
|
NM_001371986.1(UNC80):c.4763G>A (p.Arg1588Gln)
|
rs182597438
|
0.00006
|
NM_001378615.1(CC2D2A):c.647C>T (p.Ala216Val)
|
rs768733110
|
0.00006
|
NM_001429.4(EP300):c.4214G>A (p.Arg1405His)
|
rs138855106
|
0.00006
|
NM_001854.4(COL11A1):c.3600+8G>A
|
rs188045535
|
0.00006
|
NM_001931.5(DLAT):c.583C>T (p.Pro195Ser)
|
rs149440666
|
0.00006
|
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)
|
rs190546350
|
0.00006
|
NM_002693.3(POLG):c.154C>A (p.Gln52Lys)
|
rs376683989
|
0.00006
|
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp)
|
rs770250516
|
0.00006
|
NM_003073.5(SMARCB1):c.987-4G>A
|
rs745773662
|
0.00006
|
NM_003126.4(SPTA1):c.5311-4T>A
|
rs544472935
|
0.00006
|
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)
|
rs201800225
|
0.00006
|
NM_004187.5(KDM5C):c.1902C>A (p.Arg634=)
|
rs373931846
|
0.00006
|
NM_004519.4(KCNQ3):c.2614A>G (p.Ile872Val)
|
rs199682667
|
0.00006
|
NM_004544.4(NDUFA10):c.1005G>A (p.Pro335=)
|
rs778173280
|
0.00006
|
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn)
|
rs141936187
|
0.00006
|
NM_005249.5(FOXG1):c.376G>A (p.Gly126Ser)
|
rs796052455
|
0.00006
|
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=)
|
rs140102591
|
0.00006
|
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala)
|
rs553805862
|
0.00006
|
NM_006005.3(WFS1):c.2359G>A (p.Ala787Thr)
|
rs571946670
|
0.00006
|
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)
|
rs140566004
|
0.00006
|
NM_006231.4(POLE):c.3459+8C>T
|
rs375852759
|
0.00006
|
NM_006514.4(SCN10A):c.4208T>C (p.Ile1403Thr)
|
rs140825889
|
0.00006
|
NM_006922.4(SCN3A):c.1813G>A (p.Glu605Lys)
|
rs755167692
|
0.00006
|
NM_007103.4(NDUFV1):c.249G>A (p.Ser83=)
|
rs773832212
|
0.00006
|
NM_007327.4(GRIN1):c.705C>T (p.Ala235=)
|
rs201343933
|
0.00006
|
NM_007375.4(TARDBP):c.669C>G (p.Pro223=)
|
rs149517613
|
0.00006
|
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln)
|
rs759202535
|
0.00006
|
NM_014249.4(NR2E3):c.119-8C>T
|
rs373874970
|
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_015340.4(LARS2):c.763G>A (p.Ala255Thr)
|
rs201911936
|
0.00006
|
NM_015570.4(AUTS2):c.3341G>A (p.Arg1114His)
|
rs370456436
|
0.00006
|
NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg)
|
rs546162289
|
0.00006
|
NM_017882.3(CLN6):c.199-5C>T
|
rs371705916
|
0.00006
|
NM_020247.5(COQ8A):c.588+4C>T
|
rs368446029
|
0.00006
|
NM_020297.4(ABCC9):c.4512+711G>A
|
rs72559751
|
0.00006
|
NM_020451.3(SELENON):c.465G>A (p.Thr155=)
|
rs753774853
|
0.00006
|
NM_020937.4(FANCM):c.2330A>G (p.Tyr777Cys)
|
rs200173413
|
0.00006
|
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)
|
rs397517321
|
0.00006
|
NM_030662.4(MAP2K2):c.1112G>A (p.Arg371Gln)
|
rs730880514
|
0.00006
|
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser)
|
rs151166046
|
0.00006
|
NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=)
|
rs201670044
|
0.00006
|
NM_144997.7(FLCN):c.444C>T (p.His148=)
|
rs376825814
|
0.00006
|
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=)
|
rs373968888
|
0.00006
|
NM_170707.4(LMNA):c.1381-6C>T
|
rs371635492
|
0.00006
|
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro)
|
rs201785599
|
0.00006
|
NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser)
|
rs756609768
|
0.00006
|
NM_173630.4(RTTN):c.4877C>T (p.Thr1626Met)
|
rs781683199
|
0.00006
|
NM_181332.3(NLGN4X):c.48G>A (p.Pro16=)
|
rs398124365
|
0.00006
|
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=)
|
rs754584363
|
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_201384.3(PLEC):c.10178C>T (p.Ala3393Val)
|
rs370079447
|
0.00006
|
NM_201384.3(PLEC):c.3186G>A (p.Thr1062=)
|
rs782437578
|
0.00006
|
NM_201384.3(PLEC):c.5331G>C (p.Glu1777Asp)
|
rs774270631
|
0.00006
|
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg)
|
rs28897720
|
0.00005
|
NM_000069.3(CACNA1S):c.398+3G>A
|
rs764710968
|
0.00005
|
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu)
|
rs371849585
|
0.00005
|
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys)
|
rs199703883
|
0.00005
|
NM_000257.4(MYH7):c.4010G>A (p.Arg1337Gln)
|
rs368575559
|
0.00005
|
NM_000291.4(PGK1):c.1188T>A (p.Gly396=)
|
rs782667719
|
0.00005
|
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)
|
rs142732109
|
0.00005
|
NM_000368.5(TSC1):c.1916G>T (p.Gly639Val)
|
rs372583166
|
0.00005
|
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile)
|
rs200703515
|
0.00005
|
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)
|
rs200289457
|
0.00005
|
NM_000540.3(RYR1):c.9348G>A (p.Ser3116=)
|
rs763655831
|
0.00005
|
NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp)
|
rs376970816
|
0.00005
|
NM_001037333.3(CYFIP2):c.2281A>G (p.Ile761Val)
|
rs549089526
|
0.00005
|
NM_001077350.3(NPRL3):c.1252G>A (p.Glu418Lys)
|
rs547498080
|
0.00005
|
NM_001130987.2(DYSF):c.5547-4C>T
|
rs373098428
|
0.00005
|
NM_001145809.2(MYH14):c.4220G>A (p.Arg1407His)
|
rs553162373
|
0.00005
|
NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln)
|
rs150154265
|
0.00005
|
NM_001244008.2(KIF1A):c.3928G>A (p.Asp1310Asn)
|
rs371252476
|
0.00005
|
NM_001244008.2(KIF1A):c.4666-5C>T
|
rs532806732
|
0.00005
|
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr)
|
rs140760859
|
0.00005
|
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe)
|
rs368025965
|
0.00005
|
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val)
|
rs367914610
|
0.00005
|
NM_001267550.2(TTN):c.7817C>T (p.Ala2606Val)
|
rs370857722
|
0.00005
|
NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr)
|
rs201226974
|
0.00005
|
NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp)
|
rs760717246
|
0.00005
|
NM_001349338.3(FOXP1):c.107G>A (p.Arg36Gln)
|
rs200643313
|
0.00005
|
NM_001365276.2(TNXB):c.4866C>T (p.Pro1622=)
|
rs571254395
|
0.00005
|
NM_001367624.2(ZNF469):c.5332C>A (p.Pro1778Thr)
|
rs528985816
|
0.00005
|
NM_001367624.2(ZNF469):c.98C>T (p.Pro33Leu)
|
rs752770883
|
0.00005
|
NM_001367721.1(CASK):c.1090A>G (p.Ser364Gly)
|
rs759161435
|
0.00005
|
NM_001374828.1(ARID1B):c.407C>T (p.Ser136Leu)
|
rs1484818039
|
0.00005
|
NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser)
|
rs761077330
|
0.00005
|
NM_001875.5(CPS1):c.1632G>A (p.Thr544=)
|
rs755530984
|
0.00005
|
NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=)
|
rs373001247
|
0.00005
|
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr)
|
rs376154041
|
0.00005
|
NM_003036.4(SKI):c.1212-8C>T
|
rs370921440
|
0.00005
|
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)
|
rs375310569
|
0.00005
|
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys)
|
rs145739725
|
0.00005
|
NM_004006.3(DMD):c.3046C>T (p.Arg1016Trp)
|
rs199808421
|
0.00005
|
NM_004082.5(DCTN1):c.60G>A (p.Ala20=)
|
rs150204862
|
0.00005
|
NM_004370.6(COL12A1):c.4288-5C>T
|
rs544779989
|
0.00005
|
NM_006017.3(PROM1):c.1344C>T (p.Ile448=)
|
rs147174580
|
0.00005
|
NM_006514.4(SCN10A):c.3838T>A (p.Ser1280Thr)
|
rs200324539
|
0.00005
|
NM_006516.4(SLC2A1):c.276-8G>A
|
rs373084446
|
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_013382.7(POMT2):c.2057G>A (p.Arg686Gln)
|
rs200163818
|
0.00005
|
NM_014014.5(SNRNP200):c.4230C>T (p.Gly1410=)
|
rs747476940
|
0.00005
|
NM_014727.3(KMT2B):c.5092G>A (p.Asp1698Asn)
|
rs374963939
|
0.00005
|
NM_018136.5(ASPM):c.2532C>T (p.Val844=)
|
rs141716537
|
0.00005
|
NM_024334.3(TMEM43):c.679C>G (p.His227Asp)
|
rs201460674
|
0.00005
|
NM_025074.7(FRAS1):c.4807C>T (p.Arg1603Trp)
|
rs961911715
|
0.00005
|
NM_025215.6(PUS1):c.1068G>A (p.Leu356=)
|
rs201753270
|
0.00005
|
NM_032119.4(ADGRV1):c.4786G>A (p.Val1596Ile)
|
rs371179945
|
0.00005
|
NM_170754.4(TNS2):c.3158C>G (p.Pro1053Arg)
|
rs375650806
|
0.00005
|
NM_173689.7(CRB2):c.1110C>T (p.Gly370=)
|
rs145948620
|
0.00005
|
NM_182961.4(SYNE1):c.10443+5G>A
|
rs557835636
|
0.00005
|
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala)
|
rs781900720
|
0.00004
|
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro)
|
rs375586273
|
0.00004
|
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)
|
rs587779816
|
0.00004
|
NM_000052.7(ATP7A):c.2499-7T>C
|
rs782260332
|
0.00004
|
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)
|
rs80358548
|
0.00004
|
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val)
|
rs80358817
|
0.00004
|
NM_000069.3(CACNA1S):c.454A>G (p.Met152Val)
|
rs369332959
|
0.00004
|
NM_000124.4(ERCC6):c.352C>T (p.His118Tyr)
|
rs377708438
|
0.00004
|
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=)
|
rs375402043
|
0.00004
|
NM_000142.5(FGFR3):c.1752G>A (p.Pro584=)
|
rs139020690
|
0.00004
|
NM_000249.4(MLH1):c.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)
|
rs782607566
|
0.00004
|
NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu)
|
rs199473147
|
0.00004
|
NM_000535.7(PMS2):c.1501G>A (p.Val501Met)
|
rs540287433
|
0.00004
|
NM_000540.3(RYR1):c.5638G>A (p.Glu1880Lys)
|
rs777733662
|
0.00004
|
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser)
|
rs137854168
|
0.00004
|
NM_000548.5(TSC2):c.2887G>A (p.Val963Met)
|
rs45517275
|
0.00004
|
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile)
|
rs201135184
|
0.00004
|
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser)
|
rs761181064
|
0.00004
|
NM_000548.5(TSC2):c.759C>T (p.Cys253=)
|
rs45517125
|
0.00004
|
NM_000834.5(GRIN2B):c.275G>A (p.Arg92Gln)
|
rs201966022
|
0.00004
|
NM_000834.5(GRIN2B):c.3993G>A (p.Met1331Ile)
|
rs200035225
|
0.00004
|
NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met)
|
rs144022753
|
0.00004
|
NM_001005498.4(RHBDF2):c.335G>A (p.Arg112His)
|
rs546484250
|
0.00004
|
NM_001009944.3(PKD1):c.9626G>A (p.Arg3209His)
|
rs1063405
|
0.00004
|
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr)
|
rs745774658
|
0.00004
|
NM_001042492.3(NF1):c.4111-4G>A
|
rs764877783
|
0.00004
|
NM_001080414.4(CCDC88C):c.708C>T (p.Ser236=)
|
rs745338278
|
0.00004
|
NM_001083961.2(WDR62):c.4329G>A (p.Gln1443=)
|
rs771131709
|
0.00004
|
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)
|
rs61753016
|
0.00004
|
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser)
|
rs775079932
|
0.00004
|
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile)
|
rs373224251
|
0.00004
|
NM_001128225.3(SLC39A13):c.934G>A (p.Ala312Thr)
|
rs749499150
|
0.00004
|
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser)
|
rs778489951
|
0.00004
|
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)
|
rs587780353
|
0.00004
|
NM_001148.6(ANK2):c.9679A>C (p.Thr3227Pro)
|
rs140604600
|
0.00004
|
NM_001171.6(ABCC6):c.3751C>T (p.Pro1251Ser)
|
rs148326870
|
0.00004
|
NM_001243133.2(NLRP3):c.2761A>G (p.Thr921Ala)
|
rs200089542
|
0.00004
|
NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala)
|
rs771136390
|
0.00004
|
NM_001267550.2(TTN):c.11063T>C (p.Phe3688Ser)
|
rs377296133
|
0.00004
|
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr)
|
rs34337578
|
0.00004
|
NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu)
|
rs200598509
|
0.00004
|
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)
|
rs375266859
|
0.00004
|
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)
|
rs140914855
|
0.00004
|
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met)
|
rs370629962
|
0.00004
|
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys)
|
rs397517687
|
0.00004
|
NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala)
|
rs200723435
|
0.00004
|
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His)
|
rs397517725
|
0.00004
|
NM_001267550.2(TTN):c.88523G>A (p.Ser29508Asn)
|
rs1314571330
|
0.00004
|
NM_001267550.2(TTN):c.8937C>T (p.Asn2979=)
|
rs368525666
|
0.00004
|
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)
|
rs375640847
|
0.00004
|
NM_001267550.2(TTN):c.97717C>T (p.Arg32573Cys)
|
rs569593251
|
0.00004
|
NM_001287.6(CLCN7):c.1226G>A (p.Arg409Gln)
|
rs780959736
|
0.00004
|
NM_001330260.2(SCN8A):c.95G>A (p.Ser32Asn)
|
rs375419028
|
0.00004
|
NM_001330311.2(DVL1):c.1282G>C (p.Gly428Arg)
|
rs201616962
|
0.00004
|
NM_001363711.2(DUOX2):c.4046C>G (p.Ser1349Cys)
|
rs768030115
|
0.00004
|
NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His)
|
rs201318927
|
0.00004
|
NM_001367624.2(ZNF469):c.5967C>T (p.Ala1989=)
|
rs955767732
|
0.00004
|
NM_001371928.1(AHDC1):c.2182C>T (p.Arg728Trp)
|
rs201595662
|
0.00004
|
NM_001374828.1(ARID1B):c.1712C>G (p.Pro571Arg)
|
rs769085274
|
0.00004
|
NM_001374828.1(ARID1B):c.4829C>T (p.Ala1610Val)
|
rs370838091
|
0.00004
|
NM_001377265.1(MAPT):c.601C>T (p.Pro201Ser)
|
rs776821664
|
0.00004
|
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile)
|
rs199626531
|
0.00004
|
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His)
|
rs775673512
|
0.00004
|
NM_001384474.1(LOXHD1):c.4375+7G>A
|
rs763847381
|
0.00004
|
NM_001457.4(FLNB):c.3767G>A (p.Arg1256Gln)
|
rs148506076
|
0.00004
|
NM_001845.6(COL4A1):c.1420G>A (p.Gly474Arg)
|
rs752346924
|
0.00004
|
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His)
|
rs754034347
|
0.00004
|
NM_001845.6(COL4A1):c.4640+3G>T
|
rs770167198
|
0.00004
|
NM_001846.4(COL4A2):c.2842G>A (p.Glu948Lys)
|
rs199678709
|
0.00004
|
NM_001854.4(COL11A1):c.2389G>A (p.Asp797Asn)
|
rs762668220
|
0.00004
|
NM_001854.4(COL11A1):c.2916+3A>G
|
rs200515572
|
0.00004
|
NM_001854.4(COL11A1):c.5144A>T (p.His1715Leu)
|
rs199576799
|
0.00004
|
NM_001904.4(CTNNB1):c.2315A>G (p.Asn772Ser)
|
rs138501547
|
0.00004
|
NM_002047.4(GARS1):c.1754T>C (p.Met585Thr)
|
rs374378925
|
0.00004
|
NM_002074.5(GNB1):c.867C>T (p.Tyr289=)
|
rs771603036
|
0.00004
|
NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=)
|
rs368775789
|
0.00004
|
NM_002474.3(MYH11):c.1575+7G>A
|
rs754750176
|
0.00004
|
NM_002693.3(POLG):c.2487C>T (p.Pro829=)
|
rs147563527
|
0.00004
|
NM_003001.5(SDHC):c.490A>T (p.Met164Leu)
|
rs200375156
|
0.00004
|
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=)
|
rs149451748
|
0.00004
|
NM_003482.4(KMT2D):c.1463C>T (p.Pro488Leu)
|
rs763729848
|
0.00004
|
NM_003491.4(NAA10):c.577G>C (p.Ala193Pro)
|
rs782413408
|
0.00004
|
NM_004208.4(AIFM1):c.556A>G (p.Asn186Asp)
|
rs765298573
|
0.00004
|
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn)
|
rs370339027
|
0.00004
|
NM_004415.4(DSP):c.5222C>T (p.Ala1741Val)
|
rs749124581
|
0.00004
|
NM_004525.3(LRP2):c.10704G>A (p.Pro3568=)
|
rs756473581
|
0.00004
|
NM_004924.6(ACTN4):c.1443-4G>A
|
rs191532828
|
0.00004
|
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser)
|
rs764612223
|
0.00004
|
NM_005249.5(FOXG1):c.251C>A (p.Pro84His)
|
rs866815665
|
0.00004
|
NM_005422.4(TECTA):c.4430G>A (p.Arg1477His)
|
rs527976707
|
0.00004
|
NM_005458.8(GABBR2):c.56C>T (p.Pro19Leu)
|
rs1054346747
|
0.00004
|
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)
|
rs371314838
|
0.00004
|
NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys)
|
rs71310379
|
0.00004
|
NM_006231.4(POLE):c.6012C>T (p.Ile2004=)
|
rs147806951
|
0.00004
|
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys)
|
rs771490182
|
0.00004
|
NM_006445.4(PRPF8):c.6750C>T (p.Gly2250=)
|
rs759598868
|
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_006612.6(KIF1C):c.996C>T (p.Tyr332=)
|
rs143283587
|
0.00004
|
NM_006766.5(KAT6A):c.4988C>T (p.Pro1663Leu)
|
rs755968563
|
0.00004
|
NM_006946.4(SPTBN2):c.2647C>T (p.Arg883Cys)
|
rs761263852
|
0.00004
|
NM_006946.4(SPTBN2):c.6929C>T (p.Ala2310Val)
|
rs749226138
|
0.00004
|
NM_007078.3(LDB3):c.1403A>G (p.Asn468Ser)
|
rs730880129
|
0.00004
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)
|
rs80357175
|
0.00004
|
NM_007327.4(GRIN1):c.1076G>A (p.Arg359His)
|
rs141704101
|
0.00004
|
NM_012208.4(HARS2):c.304-4A>G
|
rs368989873
|
0.00004
|
NM_014727.3(KMT2B):c.5504A>T (p.His1835Leu)
|
rs199510721
|
0.00004
|
NM_014795.4(ZEB2):c.374C>T (p.Thr125Met)
|
rs727504227
|
0.00004
|
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln)
|
rs376598131
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)
|
rs759935029
|
0.00004
|
NM_016580.4(PCDH12):c.1758C>T (p.Gly586=)
|
rs751172816
|
0.00004
|
NM_017780.4(CHD7):c.1030G>A (p.Val344Ile)
|
rs199919181
|
0.00004
|
NM_018668.5(VPS33B):c.1170+5G>A
|
rs201431055
|
0.00004
|
NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly)
|
rs868354713
|
0.00004
|
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg)
|
rs183142477
|
0.00004
|
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe)
|
rs780875110
|
0.00004
|
NM_020822.3(KCNT1):c.1776C>T (p.Gly592=)
|
rs769406687
|
0.00004
|
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=)
|
rs144118960
|
0.00004
|
NM_020822.3(KCNT1):c.2594+7C>T
|
rs545094921
|
0.00004
|
NM_020928.2(ZSWIM6):c.3035C>T (p.Thr1012Met)
|
rs138406248
|
0.00004
|
NM_021076.4(NEFH):c.141C>T (p.Phe47=)
|
rs780966618
|
0.00004
|
NM_022114.4(PRDM16):c.3270G>A (p.Thr1090=)
|
rs375314464
|
0.00004
|
NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe)
|
rs547583131
|
0.00004
|
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu)
|
rs376514478
|
0.00004
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
rs370422990
|
0.00004
|
NM_030665.4(RAI1):c.4936G>A (p.Gly1646Arg)
|
rs143029873
|
0.00004
|
NM_032119.4(ADGRV1):c.18831A>G (p.Glu6277=)
|
rs549421635
|
0.00004
|
NM_032737.4(LMNB2):c.1750C>T (p.Arg584Cys)
|
rs201873197
|
0.00004
|
NM_033118.4(MYLK2):c.417C>T (p.Ala139=)
|
rs560951755
|
0.00004
|
NM_172362.3(KCNH1):c.544T>A (p.Ser182Thr)
|
rs749800577
|
0.00004
|
NM_201384.3(PLEC):c.3045G>A (p.Pro1015=)
|
rs368477108
|
0.00004
|
NM_201384.3(PLEC):c.6204G>A (p.Thr2068=)
|
rs979599396
|
0.00004
|
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His)
|
rs550096037
|
0.00004
|
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp)
|
rs199476185
|
0.00004
|
NM_000069.3(CACNA1S):c.670A>G (p.Lys224Glu)
|
rs374763528
|
0.00003
|
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=)
|
rs757177349
|
0.00003
|
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)
|
rs780335726
|
0.00003
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)
|
rs56185292
|
0.00003
|
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)
|
rs375351205
|
0.00003
|
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln)
|
rs386833412
|
0.00003
|
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu)
|
rs764972504
|
0.00003
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000426.4(LAMA2):c.5688C>T (p.His1896=)
|
rs573779258
|
0.00003
|
NM_000447.3(PSEN2):c.415G>A (p.Val139Met)
|
rs202178897
|
0.00003
|
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe)
|
rs752477271
|
0.00003
|
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly)
|
rs139647387
|
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.8112C>T (p.Cys2704=)
|
rs763722972
|
0.00003
|
NM_000548.5(TSC2):c.299C>T (p.Ala100Val)
|
rs375824753
|
0.00003
|
NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu)
|
rs45517341
|
0.00003
|
NM_000574.5(CD55):c.1089G>A (p.Thr363=)
|
rs767750936
|
0.00003
|
NM_000934.4(SERPINF2):c.815C>T (p.Thr272Met)
|
rs374422816
|
0.00003
|
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)
|
rs779727341
|
0.00003
|
NM_001080517.3(SETD5):c.2908G>A (p.Val970Met)
|
rs766037213
|
0.00003
|
NM_001080517.3(SETD5):c.3919T>C (p.Ser1307Pro)
|
rs768635008
|
0.00003
|
NM_001100913.3(PACS2):c.1401G>A (p.Gln467=)
|
rs782775675
|
0.00003
|
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)
|
rs140258520
|
0.00003
|
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)
|
rs563345694
|
0.00003
|
NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp)
|
rs756780624
|
0.00003
|
NM_001128840.3(CACNA1D):c.4111-8C>G
|
rs751553150
|
0.00003
|
NM_001130987.2(DYSF):c.760-8G>C
|
rs748159785
|
0.00003
|
NM_001142800.2(EYS):c.3164+8T>C
|
rs1385606496
|
0.00003
|
NM_001144967.3(NEDD4L):c.1377+7C>T
|
rs372739641
|
0.00003
|
NM_001148.6(ANK2):c.11594A>G (p.Asp3865Gly)
|
rs140606121
|
0.00003
|
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val)
|
rs375256600
|
0.00003
|
NM_001190274.2(FBXO11):c.691C>T (p.Pro231Ser)
|
rs373208804
|
0.00003
|
NM_001267550.2(TTN):c.14588G>A (p.Gly4863Glu)
|
rs375680312
|
0.00003
|
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser)
|
rs370962244
|
0.00003
|
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys)
|
rs200325324
|
0.00003
|
NM_001267550.2(TTN):c.28127C>G (p.Thr9376Arg)
|
rs749875409
|
0.00003
|
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)
|
rs199889888
|
0.00003
|
NM_001267550.2(TTN):c.62468G>A (p.Arg20823His)
|
rs758019778
|
0.00003
|
NM_001267550.2(TTN):c.73765T>C (p.Tyr24589His)
|
rs371821218
|
0.00003
|
NM_001267550.2(TTN):c.97442G>A (p.Gly32481Glu)
|
rs201364164
|
0.00003
|
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp)
|
rs201978087
|
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_001365276.2(TNXB):c.8301C>T (p.Thr2767=)
|
rs760906844
|
0.00003
|
NM_001367624.2(ZNF469):c.2123C>T (p.Ala708Val)
|
rs1327795344
|
0.00003
|
NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val)
|
rs138287354
|
0.00003
|
NM_001378120.1(MBD5):c.2095A>C (p.Ser699Arg)
|
rs774227790
|
0.00003
|
NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu)
|
rs200985982
|
0.00003
|
NM_001378452.1(ITPR1):c.4233G>A (p.Pro1411=)
|
rs373572745
|
0.00003
|
NM_001385079.1(PDE10A):c.2896-8C>A
|
rs754387675
|
0.00003
|
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu)
|
rs145425478
|
0.00003
|
NM_001457.4(FLNB):c.4760G>A (p.Arg1587His)
|
rs756266678
|
0.00003
|
NM_001458.5(FLNC):c.2930-5C>T
|
rs371599113
|
0.00003
|
NM_001458.5(FLNC):c.6471C>T (p.Asn2157=)
|
rs764877771
|
0.00003
|
NM_001844.5(COL2A1):c.2946C>T (p.Ile982=)
|
rs555904044
|
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_002047.4(GARS1):c.69G>A (p.Arg23=)
|
rs762624758
|
0.00003
|
NM_002775.5(HTRA1):c.957C>T (p.Thr319=)
|
rs373287445
|
0.00003
|
NM_003383.5(VLDLR):c.1188T>C (p.Asp396=)
|
rs371219585
|
0.00003
|
NM_004380.3(CREBBP):c.4948G>A (p.Val1650Ile)
|
rs776549587
|
0.00003
|
NM_004380.3(CREBBP):c.6516C>T (p.Asn2172=)
|
rs763852812
|
0.00003
|
NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr)
|
rs587782931
|
0.00003
|
NM_004984.4(KIF5A):c.750C>T (p.Asp250=)
|
rs375693647
|
0.00003
|
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val)
|
rs782551106
|
0.00003
|
NM_005982.4(SIX1):c.191G>A (p.Arg64His)
|
rs1051653507
|
0.00003
|
NM_006766.5(KAT6A):c.5339A>G (p.Tyr1780Cys)
|
rs61753681
|
0.00003
|
NM_006922.4(SCN3A):c.1505G>A (p.Arg502Gln)
|
rs747726149
|
0.00003
|
NM_007118.4(TRIO):c.4146G>A (p.Met1382Ile)
|
rs372498676
|
0.00003
|
NM_007294.4(BRCA1):c.1881C>G (p.Val627=)
|
rs80356838
|
0.00003
|
NM_007327.4(GRIN1):c.1045G>T (p.Ala349Ser)
|
rs148008303
|
0.00003
|
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)
|
rs536611911
|
0.00003
|
NM_014727.3(KMT2B):c.1444C>T (p.Arg482Trp)
|
rs1420662989
|
0.00003
|
NM_014795.4(ZEB2):c.167T>C (p.Leu56Pro)
|
rs61750440
|
0.00003
|
NM_014874.4(MFN2):c.119A>G (p.Asn40Ser)
|
rs1354203259
|
0.00003
|
NM_015346.4(ZFYVE26):c.403G>A (p.Val135Met)
|
rs771937001
|
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_017617.5(NOTCH1):c.3510+3G>A
|
rs372739350
|
0.00003
|
NM_018896.5(CACNA1G):c.305G>A (p.Arg102Gln)
|
rs763813233
|
0.00003
|
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met)
|
rs779590747
|
0.00003
|
NM_021076.4(NEFH):c.1347G>C (p.Lys449Asn)
|
rs199932977
|
0.00003
|
NM_053025.4(MYLK):c.344G>A (p.Arg115His)
|
rs141131535
|
0.00003
|
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr)
|
rs754982440
|
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_138927.4(SON):c.5170A>G (p.Asn1724Asp)
|
rs372853725
|
0.00003
|
NM_172107.4(KCNQ2):c.1405G>A (p.Ala469Thr)
|
rs781778855
|
0.00003
|
NM_183357.3(ADCY5):c.2632G>T (p.Ala878Ser)
|
rs146316902
|
0.00003
|
NM_201384.3(PLEC):c.12703A>G (p.Met4235Val)
|
rs782479828
|
0.00003
|
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro)
|
rs571694324
|
0.00003
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
rs55853199
|
0.00002
|
NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val)
|
rs398122776
|
0.00002
|
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)
|
rs80358980
|
0.00002
|
NM_000059.4(BRCA2):c.8111C>T (p.Ser2704Phe)
|
rs80359054
|
0.00002
|
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)
|
rs80359128
|
0.00002
|
NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His)
|
rs545411173
|
0.00002
|
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile)
|
rs138265497
|
0.00002
|
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn)
|
rs587778187
|
0.00002
|
NM_000228.3(LAMB3):c.2556+7G>A
|
rs201280220
|
0.00002
|
NM_000257.4(MYH7):c.154G>A (p.Val52Met)
|
rs730880919
|
0.00002
|
NM_000264.5(PTCH1):c.3913G>T (p.Asp1305Tyr)
|
rs368528885
|
0.00002
|
NM_000330.4(RS1):c.184+3119G>A
|
rs762576315
|
0.00002
|
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg)
|
rs796053452
|
0.00002
|
NM_000435.3(NOTCH3):c.2450C>T (p.Pro817Leu)
|
rs142405648
|
0.00002
|
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=)
|
rs144164620
|
0.00002
|
NM_000540.3(RYR1):c.7027+4A>T
|
rs753538619
|
0.00002
|
NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val)
|
rs374066182
|
0.00002
|
NM_000701.8(ATP1A1):c.1468-8C>T
|
rs764054683
|
0.00002
|
NM_000836.4(GRIN2D):c.1434C>T (p.Arg478=)
|
rs149544539
|
0.00002
|
NM_001039591.3(USP9X):c.3892T>C (p.Leu1298=)
|
rs1361298317
|
0.00002
|
NM_001040142.2(SCN2A):c.1889G>A (p.Arg630His)
|
rs150040573
|
0.00002
|
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala)
|
rs765909421
|
0.00002
|
NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg)
|
rs541554381
|
0.00002
|
NM_001042545.2(LTBP4):c.1158G>A (p.Glu386=)
|
rs1015435132
|
0.00002
|
NM_001080.3(ALDH5A1):c.1343+8C>T
|
rs775916984
|
0.00002
|
NM_001080517.3(SETD5):c.13A>G (p.Ile5Val)
|
rs567415895
|
0.00002
|
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr)
|
rs886044859
|
0.00002
|
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala)
|
rs61748427
|
0.00002
|
NM_001114748.2(TMEM240):c.264C>T (p.Ile88=)
|
rs763953379
|
0.00002
|
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=)
|
rs758409135
|
0.00002
|
NM_001127222.2(CACNA1A):c.5844G>A (p.Thr1948=)
|
rs368203745
|
0.00002
|
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala)
|
rs141963371
|
0.00002
|
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)
|
rs572722130
|
0.00002
|
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg)
|
rs760419507
|
0.00002
|
NM_001148.6(ANK2):c.10118C>T (p.Ala3373Val)
|
rs371358639
|
0.00002
|
NM_001165963.4(SCN1A):c.3220G>A (p.Asp1074Asn)
|
rs751514645
|
0.00002
|
NM_001170629.2(CHD8):c.1320G>A (p.Ser440=)
|
rs898418482
|
0.00002
|
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln)
|
rs770742837
|
0.00002
|
NM_001267550.2(TTN):c.39469G>A (p.Glu13157Lys)
|
rs761974767
|
0.00002
|
NM_001267550.2(TTN):c.42687C>T (p.Ala14229=)
|
rs775889693
|
0.00002
|
NM_001267550.2(TTN):c.43326A>G (p.Lys14442=)
|
rs878977270
|
0.00002
|
NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys)
|
rs779336886
|
0.00002
|
NM_001267550.2(TTN):c.61963G>A (p.Glu20655Lys)
|
rs776314797
|
0.00002
|
NM_001267550.2(TTN):c.67146C>T (p.Gly22382=)
|
rs770418172
|
0.00002
|
NM_001271.4(CHD2):c.568C>T (p.Arg190Cys)
|
rs540770153
|
0.00002
|
NM_001278716.2(FBXL4):c.766G>A (p.Gly256Ser)
|
rs765912815
|
0.00002
|
NM_001330360.2(POLA1):c.568A>G (p.Lys190Glu)
|
rs779545243
|
0.00002
|
NM_001367721.1(CASK):c.1714C>T (p.Arg572Cys)
|
rs1421702106
|
0.00002
|
NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile)
|
rs578128759
|
0.00002
|
NM_001374828.1(ARID1B):c.2615T>C (p.Met872Thr)
|
rs761093701
|
0.00002
|
NM_001458.5(FLNC):c.3295G>A (p.Val1099Ile)
|
rs759452636
|
0.00002
|
NM_001696.4(ATP6V1E1):c.367-4C>T
|
rs746489312
|
0.00002
|
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr)
|
rs142002945
|
0.00002
|
NM_002354.3(EPCAM):c.493G>A (p.Ala165Thr)
|
rs146685071
|
0.00002
|
NM_002778.4(PSAP):c.10C>G (p.Leu4Val)
|
rs574280149
|
0.00002
|
NM_003119.4(SPG7):c.1599G>A (p.Ala533=)
|
rs561746823
|
0.00002
|
NM_003193.5(TBCE):c.678G>A (p.Ala226=)
|
rs757127216
|
0.00002
|
NM_003705.5(SLC25A12):c.1745-4T>C
|
rs765417421
|
0.00002
|
NM_004006.3(DMD):c.8226A>G (p.Gln2742=)
|
rs746514008
|
0.00002
|
NM_004531.5(MOCS2):c.74A>G (p.Glu25Gly)
|
rs749876758
|
0.00002
|
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile)
|
rs146202502
|
0.00002
|
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=)
|
rs755457098
|
0.00002
|
NM_005045.4(RELN):c.1555G>T (p.Val519Phe)
|
rs560704715
|
0.00002
|
NM_005859.5(PURA):c.127A>G (p.Ser43Gly)
|
rs1335796595
|
0.00002
|
NM_006258.4(PRKG1):c.777T>C (p.Asn259=)
|
rs774710312
|
0.00002
|
NM_006914.4(RORB):c.1225-4G>A
|
rs774246940
|
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_006941.4(SOX10):c.396T>C (p.Ala132=)
|
rs773304320
|
0.00002
|
NM_006946.4(SPTBN2):c.3717A>G (p.Val1239=)
|
rs369017203
|
0.00002
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
NM_012418.4(FSCN2):c.54C>T (p.Asn18=)
|
rs782414995
|
0.00002
|
NM_014270.5(SLC7A9):c.201C>T (p.Ile67=)
|
rs371635071
|
0.00002
|
NM_014727.3(KMT2B):c.5425G>A (p.Ala1809Thr)
|
rs377420237
|
0.00002
|
NM_015046.7(SETX):c.855T>C (p.Pro285=)
|
rs141736312
|
0.00002
|
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln)
|
rs371925152
|
0.00002
|
NM_017721.5(CC2D1A):c.822C>T (p.Ala274=)
|
rs1179685623
|
0.00002
|
NM_018136.5(ASPM):c.4209T>C (p.His1403=)
|
rs776523167
|
0.00002
|
NM_019098.5(CNGB3):c.2103+8G>A
|
rs775059176
|
0.00002
|
NM_020184.4(CNNM4):c.927T>C (p.Phe309=)
|
rs373657140
|
0.00002
|
NM_020461.4(TUBGCP6):c.5169-5C>T
|
rs777828441
|
0.00002
|
NM_020717.5(SHROOM4):c.3626C>T (p.Ala1209Val)
|
rs782400213
|
0.00002
|
NM_020812.4(DOCK6):c.4350G>C (p.Leu1450=)
|
rs763073235
|
0.00002
|
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val)
|
rs772080195
|
0.00002
|
NM_020822.3(KCNT1):c.3502G>A (p.Asp1168Asn)
|
rs747317425
|
0.00002
|
NM_020928.2(ZSWIM6):c.2108G>A (p.Arg703His)
|
rs995265434
|
0.00002
|
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)
|
rs146304351
|
0.00002
|
NM_024818.6(UBA5):c.162-7T>C
|
rs769919837
|
0.00002
|
NM_032119.4(ADGRV1):c.10142A>G (p.Asp3381Gly)
|
rs768784845
|
0.00002
|
NM_032119.4(ADGRV1):c.442T>C (p.Ser148Pro)
|
rs769994130
|
0.00002
|
NM_032387.5(WNK4):c.1080G>T (p.Ala360=)
|
rs748879947
|
0.00002
|
NM_033056.4(PCDH15):c.4717C>G (p.Leu1573Val)
|
rs202010562
|
0.00002
|
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys)
|
rs370401336
|
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_170707.4(LMNA):c.867C>T (p.His289=)
|
rs780415585
|
0.00002
|
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val)
|
rs375264483
|
0.00002
|
NM_206933.4(USH2A):c.8028G>A (p.Pro2676=)
|
rs766443785
|
0.00002
|
NM_000038.6(APC):c.2958T>C (p.Tyr986=)
|
rs746581330
|
0.00001
|
NM_000051.4(ATM):c.4492T>C (p.Leu1498=)
|
rs748949478
|
0.00001
|
NM_000051.4(ATM):c.7359T>G (p.Arg2453=)
|
rs786201541
|
0.00001
|
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu)
|
rs276174873
|
0.00001
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn)
|
rs80358967
|
0.00001
|
NM_000090.4(COL3A1):c.1758T>C (p.Asn586=)
|
rs756227982
|
0.00001
|
NM_000124.4(ERCC6):c.1606T>C (p.Leu536=)
|
rs759447711
|
0.00001
|
NM_000124.4(ERCC6):c.2013C>T (p.Ile671=)
|
rs546407915
|
0.00001
|
NM_000135.4(FANCA):c.3626+4C>T
|
rs772166806
|
0.00001
|
NM_000144.5(FXN):c.123C>T (p.Gly41=)
|
rs1057519131
|
0.00001
|
NM_000168.6(GLI3):c.2432-5T>C
|
rs768250382
|
0.00001
|
NM_000188.3(HK1):c.840G>A (p.Glu280=)
|
rs1218129705
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1860C>T
|
rs767264288
|
0.00001
|
NM_000256.3(MYBPC3):c.2962G>A (p.Gly988Arg)
|
rs779781718
|
0.00001
|
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr)
|
rs727503167
|
0.00001
|
NM_000257.4(MYH7):c.4659C>T (p.His1553=)
|
rs570079347
|
0.00001
|
NM_000257.4(MYH7):c.5328C>T (p.Ser1776=)
|
rs765263589
|
0.00001
|
NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=)
|
rs767426033
|
0.00001
|
NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=)
|
rs749438001
|
0.00001
|
NM_000350.3(ABCA4):c.1082C>A (p.Ser361Tyr)
|
rs748487419
|
0.00001
|
NM_000350.3(ABCA4):c.3813+7T>C
|
rs769882474
|
0.00001
|
NM_000465.4(BARD1):c.1317C>T (p.Gly439=)
|
rs369986649
|
0.00001
|
NM_000492.4(CFTR):c.2808A>G (p.Pro936=)
|
rs397508438
|
0.00001
|
NM_000497.4(CYP11B1):c.595+8C>A
|
rs1322560606
|
0.00001
|
NM_000535.7(PMS2):c.687T>C (p.Ser229=)
|
rs786201508
|
0.00001
|
NM_000540.3(RYR1):c.13747-4T>G
|
rs1287127447
|
0.00001
|
NM_000540.3(RYR1):c.408G>A (p.Leu136=)
|
rs756918282
|
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.9122+7C>T
|
rs199667629
|
0.00001
|
NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn)
|
rs375883030
|
0.00001
|
NM_000548.5(TSC2):c.4260A>G (p.Ser1420=)
|
rs1285012780
|
0.00001
|
NM_000548.5(TSC2):c.4273G>A (p.Gly1425Arg)
|
rs763497329
|
0.00001
|
NM_000548.5(TSC2):c.5161A>G (p.Met1721Val)
|
rs45517407
|
0.00001
|
NM_000548.5(TSC2):c.5318A>G (p.His1773Arg)
|
rs45517418
|
0.00001
|
NM_000548.5(TSC2):c.857T>C (p.Met286Thr)
|
rs45517136
|
0.00001
|
NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr)
|
rs786205742
|
0.00001
|
NM_000719.7(CACNA1C):c.792C>A (p.Ala264=)
|
rs750459136
|
0.00001
|
NM_000834.5(GRIN2B):c.4049C>T (p.Ala1350Val)
|
rs763372245
|
0.00001
|
NM_001025295.3(IFITM5):c.186+5G>A
|
rs1267542305
|
0.00001
|
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=)
|
rs373913233
|
0.00001
|
NM_001040142.2(SCN2A):c.5580T>G (p.Ala1860=)
|
rs752845880
|
0.00001
|
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys)
|
rs369493270
|
0.00001
|
NM_001042545.2(LTBP4):c.930C>T (p.Gly310=)
|
rs746743791
|
0.00001
|
NM_001042681.2(RERE):c.1372G>A (p.Val458Met)
|
rs1306272176
|
0.00001
|
NM_001042750.2(STAG2):c.3169A>G (p.Met1057Val)
|
rs1481946219
|
0.00001
|
NM_001110792.2(MECP2):c.474C>T (p.Gly158=)
|
rs61748386
|
0.00001
|
NM_001113491.2(SEPTIN9):c.216A>G (p.Glu72=)
|
rs760234906
|
0.00001
|
NM_001114134.2(EPB42):c.552C>T (p.Phe184=)
|
rs768899304
|
0.00001
|
NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=)
|
rs369675855
|
0.00001
|
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys)
|
rs1339046005
|
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_001142864.4(PIEZO1):c.4981G>A (p.Glu1661Lys)
|
rs1406098820
|
0.00001
|
NM_001148.6(ANK2):c.6875G>A (p.Arg2292Gln)
|
rs1350377647
|
0.00001
|
NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile)
|
rs561701030
|
0.00001
|
NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val)
|
rs1266240114
|
0.00001
|
NM_001165967.2(HES7):c.43-7G>A
|
rs987042061
|
0.00001
|
NM_001174089.2(SLC4A11):c.1206C>T (p.Gly402=)
|
rs1396963242
|
0.00001
|
NM_001184880.2(PCDH19):c.684G>A (p.Val228=)
|
rs201810406
|
0.00001
|
NM_001199107.2(TBC1D24):c.*2G>A
|
rs780054979
|
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.6346C>T (p.Arg2116Cys)
|
rs765523959
|
0.00001
|
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn)
|
rs865860087
|
0.00001
|
NM_001256317.3(TMPRSS3):c.496C>T (p.Arg166Trp)
|
rs781395690
|
0.00001
|
NM_001267550.2(TTN):c.100642T>C (p.Phe33548Leu)
|
rs773561397
|
0.00001
|
NM_001267550.2(TTN):c.104015C>T (p.Ala34672Val)
|
rs79666048
|
0.00001
|
NM_001267550.2(TTN):c.29227G>A (p.Gly9743Ser)
|
rs368073588
|
0.00001
|
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro)
|
rs376836503
|
0.00001
|
NM_001267550.2(TTN):c.51122A>G (p.Asn17041Ser)
|
rs774659339
|
0.00001
|
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr)
|
rs535008556
|
0.00001
|
NM_001267550.2(TTN):c.62609A>C (p.Asn20870Thr)
|
rs376338324
|
0.00001
|
NM_001267550.2(TTN):c.72231A>G (p.Glu24077=)
|
rs1423712037
|
0.00001
|
NM_001267550.2(TTN):c.73705G>C (p.Val24569Leu)
|
rs755676676
|
0.00001
|
NM_001267550.2(TTN):c.77978C>T (p.Pro25993Leu)
|
rs771646684
|
0.00001
|
NM_001267550.2(TTN):c.79976G>C (p.Gly26659Ala)
|
rs574711878
|
0.00001
|
NM_001267550.2(TTN):c.82934G>A (p.Arg27645His)
|
rs766522109
|
0.00001
|
NM_001267550.2(TTN):c.86836C>G (p.Pro28946Ala)
|
rs748587720
|
0.00001
|
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val)
|
rs553668520
|
0.00001
|
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys)
|
rs531432790
|
0.00001
|
NM_001267550.2(TTN):c.97192+6G>A
|
rs367760700
|
0.00001
|
NM_001267550.2(TTN):c.97612C>T (p.Arg32538Cys)
|
rs761050391
|
0.00001
|
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp)
|
rs749147803
|
0.00001
|
NM_001278116.2(L1CAM):c.666G>A (p.Lys222=)
|
rs782615469
|
0.00001
|
NM_001288705.3(CSF1R):c.1056T>C (p.Ala352=)
|
rs755681714
|
0.00001
|
NM_001291303.3(FAT4):c.2057G>A (p.Ser686Asn)
|
rs374104309
|
0.00001
|
NM_001330260.2(SCN8A):c.3327C>T (p.Asn1109=)
|
rs1349215930
|
0.00001
|
NM_001365276.2(TNXB):c.1290C>T (p.Cys430=)
|
rs1331733789
|
0.00001
|
NM_001367624.2(ZNF469):c.2332G>A (p.Ala778Thr)
|
rs761152033
|
0.00001
|
NM_001367624.2(ZNF469):c.2953G>A (p.Gly985Ser)
|
rs886052399
|
0.00001
|
NM_001367624.2(ZNF469):c.7595G>T (p.Arg2532Met)
|
rs553909579
|
0.00001
|
NM_001367624.2(ZNF469):c.9088G>A (p.Gly3030Ser)
|
rs773580012
|
0.00001
|
NM_001374828.1(ARID1B):c.1439C>T (p.Ser480Leu)
|
rs1235258455
|
0.00001
|
NM_001374828.1(ARID1B):c.961G>T (p.Ala321Ser)
|
rs1268089519
|
0.00001
|
NM_001377265.1(MAPT):c.2364G>A (p.Ser788=)
|
rs377720312
|
0.00001
|
NM_001378120.1(MBD5):c.4466G>A (p.Gly1489Glu)
|
rs773267074
|
0.00001
|
NM_001378969.1(KCND3):c.186G>A (p.Pro62=)
|
rs1411627342
|
0.00001
|
NM_001394062.1(MACF1):c.21227C>T (p.Pro7076Leu)
|
rs368764004
|
0.00001
|
NM_001457.4(FLNB):c.4724C>T (p.Thr1575Met)
|
rs776237096
|
0.00001
|
NM_001458.5(FLNC):c.5955G>A (p.Ser1985=)
|
rs777895128
|
0.00001
|
NM_001567.4(INPPL1):c.247-6C>T
|
rs199604909
|
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.2281G>A (p.Ala761Thr)
|
rs751436440
|
0.00001
|
NM_001845.6(COL4A1):c.4796C>T (p.Ala1599Val)
|
rs766472965
|
0.00001
|
NM_001846.4(COL4A2):c.1264G>A (p.Gly422Arg)
|
rs779091629
|
0.00001
|
NM_001851.6(COL9A1):c.88+7G>C
|
rs755501266
|
0.00001
|
NM_001854.4(COL11A1):c.1052A>G (p.Gln351Arg)
|
rs751155680
|
0.00001
|
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=)
|
rs544663655
|
0.00001
|
NM_001854.4(COL11A1):c.3496G>T (p.Gly1166Cys)
|
rs777456846
|
0.00001
|
NM_001903.5(CTNNA1):c.1747+5G>A
|
rs377182398
|
0.00001
|
NM_001961.4(EEF2):c.366C>T (p.Thr122=)
|
rs562486328
|
0.00001
|
NM_002335.4(LRP5):c.4488+6G>T
|
rs751829465
|
0.00001
|
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr)
|
rs797045703
|
0.00001
|
NM_002397.5(MEF2C):c.402+75G>T
|
rs997329230
|
0.00001
|
NM_002496.4(NDUFS8):c.373-5C>T
|
rs753246393
|
0.00001
|
NM_002691.4(POLD1):c.273A>G (p.Thr91=)
|
rs745850676
|
0.00001
|
NM_002693.3(POLG):c.1883G>A (p.Arg628Gln)
|
rs201871736
|
0.00001
|
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr)
|
rs568913937
|
0.00001
|
NM_002693.3(POLG):c.603C>T (p.Val201=)
|
rs768005050
|
0.00001
|
NM_002775.5(HTRA1):c.573-8G>A
|
rs779261850
|
0.00001
|
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys)
|
rs191525506
|
0.00001
|
NM_002906.4(RDX):c.995T>C (p.Ile332Thr)
|
rs533107164
|
0.00001
|
NM_003108.4(SOX11):c.459C>T (p.Gly153=)
|
rs751093717
|
0.00001
|
NM_003200.5(TCF3):c.549+7C>T
|
rs747579840
|
0.00001
|
NM_003839.4(TNFRSF11A):c.1476G>A (p.Gln492=)
|
rs1320012238
|
0.00001
|
NM_004006.3(DMD):c.3986C>T (p.Thr1329Ile)
|
rs770827878
|
0.00001
|
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met)
|
rs587778170
|
0.00001
|
NM_004360.5(CDH1):c.1500C>T (p.Gly500=)
|
rs781317341
|
0.00001
|
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro)
|
rs772944531
|
0.00001
|
NM_004415.4(DSP):c.2666G>A (p.Arg889Lys)
|
rs762341335
|
0.00001
|
NM_004519.4(KCNQ3):c.2146G>C (p.Asp716His)
|
rs149324120
|
0.00001
|
NM_004563.4(PCK2):c.150C>T (p.His50=)
|
rs754970464
|
0.00001
|
NM_004958.4(MTOR):c.3405G>A (p.Ala1135=)
|
rs750981339
|
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_005245.4(FAT1):c.2706A>C (p.Arg902Ser)
|
rs555992573
|
0.00001
|
NM_006005.3(WFS1):c.2413C>T (p.Arg805Trp)
|
rs763107032
|
0.00001
|
NM_006017.3(PROM1):c.677C>T (p.Ala226Val)
|
rs376198840
|
0.00001
|
NM_006059.4(LAMC3):c.4031-4G>A
|
rs765657893
|
0.00001
|
NM_006086.4(TUBB3):c.210C>T (p.Pro70=)
|
rs754683361
|
0.00001
|
NM_006612.6(KIF1C):c.1750+5A>C
|
rs776089509
|
0.00001
|
NM_006766.5(KAT6A):c.5630G>A (p.Arg1877His)
|
rs1308362424
|
0.00001
|
NM_006946.4(SPTBN2):c.3037G>A (p.Ala1013Thr)
|
rs148016656
|
0.00001
|
NM_007294.4(BRCA1):c.1772T>C (p.Ile591Thr)
|
rs80356859
|
0.00001
|
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=)
|
rs765040215
|
0.00001
|
NM_013328.4(PYCR2):c.160C>T (p.Arg54Cys)
|
rs149894811
|
0.00001
|
NM_014049.5(ACAD9):c.1635C>T (p.Ala545=)
|
rs754646501
|
0.00001
|
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met)
|
rs368494148
|
0.00001
|
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile)
|
rs373812430
|
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_014727.3(KMT2B):c.2462G>T (p.Ser821Ile)
|
rs767324610
|
0.00001
|
NM_014727.3(KMT2B):c.5908C>A (p.Pro1970Thr)
|
rs991657581
|
0.00001
|
NM_014795.4(ZEB2):c.388A>G (p.Ile130Val)
|
rs1057520175
|
0.00001
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00001
|
NM_015178.3(RHOBTB2):c.1304C>T (p.Thr435Met)
|
rs778292046
|
0.00001
|
NM_015346.4(ZFYVE26):c.6870A>G (p.Ser2290=)
|
rs766701632
|
0.00001
|
NM_015559.3(SETBP1):c.4001-7T>A
|
rs767918557
|
0.00001
|
NM_015629.4(PRPF31):c.1140C>T (p.Phe380=)
|
rs1411083098
|
0.00001
|
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val)
|
rs774374213
|
0.00001
|
NM_017780.4(CHD7):c.73G>A (p.Gly25Arg)
|
rs759887905
|
0.00001
|
NM_018136.5(ASPM):c.6457T>C (p.Tyr2153His)
|
rs1183851640
|
0.00001
|
NM_020822.3(KCNT1):c.2174G>C (p.Cys725Ser)
|
rs756112023
|
0.00001
|
NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr)
|
rs779961735
|
0.00001
|
NM_020822.3(KCNT1):c.567G>A (p.Leu189=)
|
rs372998864
|
0.00001
|
NM_020919.4(ALS2):c.2171-7G>A
|
rs376270303
|
0.00001
|
NM_020928.2(ZSWIM6):c.2372G>A (p.Arg791Lys)
|
rs896435221
|
0.00001
|
NM_021072.4(HCN1):c.1980G>A (p.Met660Ile)
|
rs1335934380
|
0.00001
|
NM_021830.5(TWNK):c.737A>G (p.Asn246Ser)
|
rs754081544
|
0.00001
|
NM_021942.6(TRAPPC11):c.2817C>T (p.Thr939=)
|
rs778742385
|
0.00001
|
NM_022114.4(PRDM16):c.1807G>A (p.Asp603Asn)
|
rs199984813
|
0.00001
|
NM_022367.4(SEMA4A):c.1431C>G (p.Thr477=)
|
rs755693576
|
0.00001
|
NM_024120.5(NDUFAF5):c.222+7C>T
|
rs777576855
|
0.00001
|
NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=)
|
rs775742250
|
0.00001
|
NM_024596.5(MCPH1):c.1494C>T (p.Cys498=)
|
rs199951156
|
0.00001
|
NM_024740.2(ALG9):c.1251G>A (p.Ser417=)
|
rs782372397
|
0.00001
|
NM_024757.5(EHMT1):c.2755G>A (p.Val919Met)
|
rs749976725
|
0.00001
|
NM_025137.4(SPG11):c.3453+5A>G
|
rs983973496
|
0.00001
|
NM_032119.4(ADGRV1):c.137C>T (p.Thr46Ile)
|
rs754162988
|
0.00001
|
NM_032119.4(ADGRV1):c.5560A>G (p.Ile1854Val)
|
rs758419783
|
0.00001
|
NM_032119.4(ADGRV1):c.8791A>G (p.Met2931Val)
|
rs1250073917
|
0.00001
|
NM_080680.3(COL11A2):c.3392G>A (p.Arg1131Gln)
|
rs529015303
|
0.00001
|
NM_133379.5(TTN):c.10733A>G (p.Tyr3578Cys)
|
rs200420921
|
0.00001
|
NM_139343.3(BIN1):c.84+15G>T
|
rs769721985
|
0.00001
|
NM_144670.6(A2ML1):c.4000G>C (p.Gly1334Arg)
|
rs1052149878
|
0.00001
|
NM_144992.5(VWA3B):c.1296C>T (p.Ser432=)
|
rs375244468
|
0.00001
|
NM_145239.3(PRRT2):c.912C>T (p.Asp304=)
|
rs759633234
|
0.00001
|
NM_145698.5(ACBD5):c.262T>C (p.Ser88Pro)
|
rs199700938
|
0.00001
|
NM_170707.4(LMNA):c.1182C>T (p.Thr394=)
|
rs1409406468
|
0.00001
|
NM_170707.4(LMNA):c.1764C>T (p.Cys588=)
|
rs759016336
|
0.00001
|
NM_170707.4(LMNA):c.643C>T (p.Leu215=)
|
rs397517905
|
0.00001
|
NM_177402.5(SYT2):c.903C>T (p.Asp301=)
|
rs780359132
|
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_198334.3(GANAB):c.292A>G (p.Met98Val)
|
rs762692505
|
0.00001
|
NM_198904.4(GABRG2):c.1002G>A (p.Ala334=)
|
rs371601817
|
0.00001
|
NM_201384.3(PLEC):c.4220C>T (p.Ala1407Val)
|
rs548430154
|
0.00001
|
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)
|
rs782701925
|
|
NM_000038.6(APC):c.7696A>C (p.Arg2566=)
|
rs1060504883
|
|
NM_000059.4(BRCA2):c.10176del (p.Glu3393fs)
|
rs80359258
|
|
NM_000059.4(BRCA2):c.5479A>G (p.Ile1827Val)
|
rs80358770
|
|
NM_000059.4(BRCA2):c.7056T>A (p.Pro2352=)
|
rs276174888
|
|
NM_000059.4(BRCA2):c.9104A>G (p.Tyr3035Cys)
|
rs80359165
|
|
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)
|
rs276174926
|
|
NM_000059.4(BRCA2):c.9619A>T (p.Ile3207Phe)
|
rs1057520802
|
|
NM_000063.6(C2):c.1219+7C>T
|
rs1554282202
|
|
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His)
|
rs150590855
|
|
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)
|
rs150590855
|
|
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)
|
|
|
NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr)
|
rs199989324
|
|
NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln)
|
rs368214163
|
|
NM_000090.4(COL3A1):c.1461C>T (p.Ala487=)
|
rs747522483
|
|
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu)
|
rs190148408
|
|
NM_000094.4(COL7A1):c.5425-6_5425-5del
|
rs762085901
|
|
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser)
|
rs140041143
|
|
NM_000101.4(CYBA):c.524CGG[3] (p.Ala176dup)
|
rs760275837
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
NM_000142.5(FGFR3):c.2362G>A (p.Val788Met)
|
|
|
NM_000213.5(ITGB4):c.2422G>A (p.Ala808Thr)
|
rs147480547
|
|
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu)
|
rs12720449
|
|
NM_000238.4(KCNH2):c.3357G>A (p.Glu1119=)
|
rs1389024546
|
|
NM_000257.4(MYH7):c.3927C>A (p.Thr1309=)
|
rs1430666956
|
|
NM_000260.4(MYO7A):c.1343+8G>T
|
rs2276278
|
|
NM_000260.4(MYO7A):c.4152+6dup
|
rs1956152029
|
|
NM_000260.4(MYO7A):c.5494C>A (p.Arg1832=)
|
rs748080151
|
|
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=)
|
rs146438251
|
|
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3])
|
rs1024697806
|
|
NM_000264.5(PTCH1):c.875T>C (p.Met292Thr)
|
rs748727674
|
|
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)
|
rs145362908
|
|
NM_000271.5(NPC1):c.3755-16TC[7]
|
rs760529810
|
|
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp)
|
rs112030253
|
|
NM_000302.4(PLOD1):c.1471-9_1471-8delinsGT
|
rs1553136318
|
|
NM_000314.8(PTEN):c.-312C>T
|
|
|
NM_000314.8(PTEN):c.369C>T (p.His123=)
|
rs1085308045
|
|
NM_000335.5(SCN5A):c.3267G>C (p.Pro1089=)
|
rs752999955
|
|
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=)
|
rs200334972
|
|
NM_000350.3(ABCA4):c.4540-5C>G
|
rs1476415689
|
|
NM_000426.4(LAMA2):c.5530C>T (p.Arg1844Cys)
|
rs56173620
|
|
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile)
|
rs200796753
|
|
NM_000435.3(NOTCH3):c.3148C>T (p.Arg1050Trp)
|
|
|
NM_000435.3(NOTCH3):c.506G>A (p.Arg169His)
|
|
|
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
|
|
|
NM_000489.6(ATRX):c.2241TTC[2] (p.Ser750del)
|
rs1297294136
|
|
NM_000540.3(RYR1):c.12852CACGGCGGC[1] (p.4285TAA[1])
|
rs398123469
|
|
NM_000540.3(RYR1):c.14365-6C>T
|
rs1064797242
|
|
NM_000540.3(RYR1):c.447G>A (p.Met149Ile)
|
rs772652844
|
|
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr)
|
rs199947661
|
|
NM_000540.3(RYR1):c.6664-5C>G
|
rs867630021
|
|
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys)
|
rs200532154
|
|
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr)
|
rs147719291
|
|
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His)
|
rs45517343
|
|
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)
|
rs373068386
|
|
NM_000551.4(VHL):c.341-4A>T
|
rs1559428033
|
|
NM_000718.4(CACNA1B):c.5240A>G (p.Asn1747Ser)
|
|
|
NM_000807.4(GABRA2):c.26A>G (p.Asn9Ser)
|
|
|
NM_001033046.4(CYBC1):c.298+8G>A
|
|
|
NM_001037333.3(CYFIP2):c.1357-6G>A
|
rs1760439649
|
|
NM_001037333.3(CYFIP2):c.229C>T (p.His77Tyr)
|
rs1201497625
|
|
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)
|
rs747392139
|
|
NM_001040142.2(SCN2A):c.1984A>G (p.Thr662Ala)
|
rs796053111
|
|
NM_001042492.3(NF1):c.4332+22_4332+25del
|
rs768273651
|
|
NM_001042545.2(LTBP4):c.56_67dup (p.Leu19_Gln22dup)
|
rs1220133830
|
|
NM_001077525.3(MTMR14):c.1295-7_1295-5del
|
rs771401637
|
|
NM_001080449.3(DNA2):c.1155A>G (p.Gln385=)
|
rs530452383
|
|
NM_001093.4(ACACB):c.1467C>A (p.Ile489=)
|
rs555723310
|
|
NM_001098816.3(TENM4):c.5383G>A (p.Val1795Met)
|
|
|
NM_001100913.3(PACS2):c.2692G>C (p.Gly898Arg)
|
rs368316410
|
|
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val)
|
rs374295965
|
|
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
|
|
|
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del)
|
rs267608406
|
|
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)
|
rs61753014
|
|
NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn)
|
rs2065910235
|
|
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys)
|
rs141382970
|
|
NM_001113491.2(SEPTIN9):c.353_354delinsCC (p.Gln118Pro)
|
rs1555659856
|
|
NM_001113491.2(SEPTIN9):c.449C>T (p.Thr150Met)
|
|
|
NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser)
|
rs201311000
|
|
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)
|
rs200333359
|
|
NM_001127644.2(GABRA1):c.39C>G (p.Ala13=)
|
rs1581175017
|
|
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser)
|
rs147146258
|
|
NM_001134673.4(NFIA):c.1255-8_1255-7insGC
|
|
|
NM_001136139.4(TCF3):c.1700G>A (p.Arg567Gln)
|
rs1555712474
|
|
NM_001136193.2(FASTKD2):c.1587G>C (p.Leu529=)
|
|
|
NM_001142864.4(PIEZO1):c.4969C>T (p.Pro1657Ser)
|
rs763940836
|
|
NM_001145809.2(MYH14):c.1625T>G (p.Leu542Arg)
|
rs727504564
|
|
NM_001148.6(ANK2):c.2460CAC[4] (p.Thr826del)
|
rs770530257
|
|
NM_001161352.2(KCNMA1):c.1929T>C (p.Arg643=)
|
rs1064797145
|
|
NM_001164508.2(NEB):c.1366-4A>G
|
rs886038438
|
|
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3])
|
rs377452683
|
|
NM_001164508.2(NEB):c.3778T>C (p.Leu1260=)
|
rs886038452
|
|
NM_001183.6(ATP6AP1):c.96GGC[6] (p.Ala41del)
|
rs781797236
|
|
NM_001190274.2(FBXO11):c.134_154dup (p.Gln51_Gln52insProProProProProGlnGln)
|
|
|
NM_001190274.2(FBXO11):c.183_191dup (p.Pro66_Leu67insProProPro)
|
|
|
NM_001191061.2(SLC25A22):c.413-7T>C
|
rs969941249
|
|
NM_001197104.2(KMT2A):c.2062T>A (p.Phe688Ile)
|
rs369566552
|
|
NM_001205293.3(CACNA1E):c.176G>A (p.Arg59Gln)
|
rs535592986
|
|
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.3423-4G>A
|
|
|
NM_001205293.3(CACNA1E):c.6863G>A (p.Arg2288His)
|
|
|
NM_001206999.2(CIT):c.753+8del
|
rs771292782
|
|
NM_001235.5(SERPINH1):c.346C>A (p.Arg116Ser)
|
rs200265134
|
|
NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val)
|
rs200288250
|
|
NM_001244008.2(KIF1A):c.2493G>T (p.Val831=)
|
rs201861261
|
|
NM_001252024.2(TRPM1):c.2149G>A (p.Ala717Thr)
|
rs138944426
|
|
NM_001261826.3(AP3D1):c.3265-5C>T
|
rs534639518
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
NM_001267550.2(TTN):c.107387A>C (p.Glu35796Ala)
|
rs1553478042
|
|
NM_001267550.2(TTN):c.12837T>C (p.Asp4279=)
|
rs762681376
|
|
NM_001267550.2(TTN):c.156C>G (p.Pro52=)
|
rs72647842
|
|
NM_001267550.2(TTN):c.24156A>G (p.Thr8052=)
|
rs749823104
|
|
NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1])
|
rs766756026
|
|
NM_001267550.2(TTN):c.33501AGA[4] (p.Glu11172del)
|
rs368327166
|
|
NM_001267550.2(TTN):c.38455G>A (p.Ala12819Thr)
|
|
|
NM_001267550.2(TTN):c.43138T>C (p.Cys14380Arg)
|
rs557125278
|
|
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del)
|
rs727505236
|
|
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val)
|
rs370687831
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
NM_001267550.2(TTN):c.84681T>C (p.Tyr28227=)
|
rs373268234
|
|
NM_001267550.2(TTN):c.89457A>G (p.Gly29819=)
|
rs1553542686
|
|
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del)
|
rs748912340
|
|
NM_001277269.2(OTOG):c.7517-5_7518dup
|
rs1295062471
|
|
NM_001278064.2(GRM1):c.2796C>G (p.Pro932=)
|
rs1583494731
|
|
NM_001278116.2(L1CAM):c.1234C>G (p.Leu412Val)
|
|
|
NM_001288705.3(CSF1R):c.1132C>T (p.Arg378Cys)
|
rs570645140
|
|
NM_001292063.2(OTOG):c.8036G>A (p.Arg2679His)
|
rs766229978
|
|
NM_001330691.3(CEP78):c.779-8A>G
|
rs1040280976
|
|
NM_001349.4(DARS1):c.10GCCAGC[3] (p.4AS[3])
|
rs551090724
|
|
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr)
|
rs202020443
|
|
NM_001365276.2(TNXB):c.6277G>C (p.Ala2093Pro)
|
|
|
NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile)
|
rs140304758
|
|
NM_001367624.2(ZNF469):c.3759G>A (p.Ala1253=)
|
rs543669472
|
|
NM_001367624.2(ZNF469):c.457C>A (p.Pro153Thr)
|
rs532620482
|
|
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile)
|
rs886043704
|
|
NM_001367721.1(CASK):c.1669-6dup
|
rs746809939
|
|
NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr)
|
rs199744649
|
|
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)
|
rs2066845
|
|
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_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_001374736.1(DST):c.20916C>T (p.Tyr6972=)
|
rs763815018
|
|
NM_001374828.1(ARID1B):c.5875A>G (p.Ser1959Gly)
|
|
|
NM_001374828.1(ARID1B):c.886CCG[3] (p.Pro297_Val298insPro)
|
|
|
NM_001374828.1(ARID1B):c.928_929delinsCC (p.Val310Pro)
|
rs1554247605
|
|
NM_001377295.2(GNAT2):c.257G>A (p.Arg86Gln)
|
rs140250745
|
|
NM_001378120.1(MBD5):c.1379C>T (p.Ser460Leu)
|
rs878910680
|
|
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr)
|
rs1024254683
|
|
NM_001378183.1(PIEZO2):c.1261G>C (p.Gly421Arg)
|
rs202104395
|
|
NM_001378452.1(ITPR1):c.3873C>T (p.Phe1291=)
|
rs567943387
|
|
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp)
|
rs781731042
|
|
NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del)
|
rs561144747
|
|
NM_001388492.1(HTT):c.2981C>G (p.Thr994Arg)
|
rs190593027
|
|
NM_001395656.1(ROBO2):c.3869G>T (p.Arg1290Leu)
|
rs200131009
|
|
NM_001453.3(FOXC1):c.1124GCG[5] (p.Gly380del)
|
rs76840944
|
|
NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys)
|
rs139875974
|
|
NM_001457.4(FLNB):c.5274A>G (p.Gly1758=)
|
|
|
NM_001458.5(FLNC):c.3261C>T (p.Thr1087=)
|
rs2128936369
|
|
NM_001510.4(GRID2):c.2921T>A (p.Phe974Tyr)
|
|
|
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)
|
rs367857772
|
|
NM_001605.3(AARS1):c.1842C>T (p.Ala614=)
|
rs1057521642
|
|
NM_001613.4(ACTA2):c.399C>G (p.Ala133=)
|
rs781132665
|
|
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)
|
rs145735762
|
|
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met)
|
rs142709940
|
|
NM_001853.4(COL9A3):c.182C>T (p.Pro61Leu)
|
rs149582526
|
|
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile)
|
rs141817156
|
|
NM_002047.4(GARS1):c.1614-4G>C
|
rs376324026
|
|
NM_002080.4(GOT2):c.1069C>G (p.Gln357Glu)
|
|
|
NM_002242.4(KCNJ13):c.474G>T (p.Ala158=)
|
rs769501717
|
|
NM_002350.4(LYN):c.133-4G>A
|
|
|
NM_002465.4(MYBPC1):c.665+8C>T
|
rs199628742
|
|
NM_002609.4(PDGFRB):c.1000C>T (p.Arg334Trp)
|
|
|
NM_002637.4(PHKA1):c.2685+8_2685+10del
|
rs782176924
|
|
NM_002693.3(POLG):c.2121C>A (p.Asn707Lys)
|
rs755502359
|
|
NM_002693.3(POLG):c.381G>T (p.Leu127=)
|
rs1057524724
|
|
NM_002693.3(POLG):c.975C>A (p.Pro325=)
|
rs551973680
|
|
NM_002775.5(HTRA1):c.879C>A (p.Thr293=)
|
|
|
NM_002858.4(ABCD3):c.122G>A (p.Gly41Glu)
|
|
|
NM_002860.4(ALDH18A1):c.2232G>C (p.Ser744=)
|
rs148601288
|
|
NM_002878.4(RAD51D):c.163C>T (p.Arg55Trp)
|
rs775268017
|
|
NM_002972.4(SBF1):c.738C>T (p.Leu246=)
|
rs374299843
|
|
NM_003200.5(TCF3):c.550-5C>T
|
|
|
NM_003200.5(TCF3):c.550-8G>A
|
|
|
NM_003383.5(VLDLR):c.203-4G>A
|
|
|
NM_003590.5(CUL3):c.696A>G (p.Val232=)
|
|
|
NM_003718.5(CDK13):c.1906_1908del (p.Lys636del)
|
|
|
NM_003737.4(DCHS1):c.2595G>A (p.Val865=)
|
rs541336434
|
|
NM_003906.5(MCM3AP):c.3336-7C>T
|
|
|
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser)
|
rs145739725
|
|
NM_004006.3(DMD):c.76A>G (p.Asn26Asp)
|
rs1057521321
|
|
NM_004006.3(DMD):c.8169G>C (p.Arg2723Ser)
|
rs1569139778
|
|
NM_004136.4(IREB2):c.656A>C (p.Glu219Ala)
|
|
|
NM_004187.5(KDM5C):c.3072G>T (p.Glu1024Asp)
|
rs2146833113
|
|
NM_004318.4(ASPH):c.34_51dup (p.Asn12_Gly17dup)
|
rs781622171
|
|
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile)
|
rs201408175
|
|
NM_004380.3(CREBBP):c.283G>A (p.Val95Met)
|
rs756802946
|
|
NM_004380.3(CREBBP):c.3889C>T (p.His1297Tyr)
|
rs1057521558
|
|
NM_004431.5(EPHA2):c.1582+6T>C
|
|
|
NM_004525.3(LRP2):c.6470-4A>G
|
|
|
NM_004612.4(TGFBR1):c.1387-4G>A
|
rs397517031
|
|
NM_004614.5(TK2):c.55C>T (p.Pro19Ser)
|
rs551565600
|
|
NM_004646.4(NPHS1):c.2072-5C>T
|
rs1973103431
|
|
NM_004706.4(ARHGEF1):c.1094G>A (p.Ser365Asn)
|
rs199751095
|
|
NM_004738.5(VAPB):c.656G>T (p.Gly219Val)
|
rs786205553
|
|
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu)
|
rs537303950
|
|
NM_004820.5(CYP7B1):c.924T>G (p.Leu308=)
|
rs754533279
|
|
NM_004826.4(ECEL1):c.2105G>T (p.Arg702Leu)
|
rs117012322
|
|
NM_004859.4(CLTC):c.88C>T (p.Leu30=)
|
|
|
NM_004947.5(DOCK3):c.5341TTG[1] (p.Leu1783del)
|
|
|
NM_004958.4(MTOR):c.3238C>T (p.Arg1080Cys)
|
|
|
NM_004958.4(MTOR):c.4770G>A (p.Met1590Ile)
|
rs1386078325
|
|
NM_004960.4(FUS):c.*132C>A
|
rs565540429
|
|
NM_004960.4(FUS):c.669CGG[3] (p.Gly229_Gly231del)
|
rs72550890
|
|
NM_004975.4(KCNB1):c.2324C>G (p.Pro775Arg)
|
rs530927636
|
|
NM_004975.4(KCNB1):c.372C>T (p.Ile124=)
|
rs147498424
|
|
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=)
|
rs1064797169
|
|
NM_004984.4(KIF5A):c.1717-6C>T
|
rs61935711
|
|
NM_004998.4(MYO1E):c.2627C>G (p.Thr876Arg)
|
rs147596471
|
|
NM_005051.3(QARS1):c.632-10dup
|
rs775642346
|
|
NM_005157.6(ABL1):c.1543G>A (p.Val515Ile)
|
|
|
NM_005186.4(CAPN1):c.1943-4C>A
|
rs377259262
|
|
NM_005245.4(FAT1):c.6122G>A (p.Arg2041His)
|
|
|
NM_005276.4(GPD1):c.361G>A (p.Gly121Arg)
|
rs35428353
|
|
NM_005458.8(GABBR2):c.58C>T (p.Pro20Ser)
|
rs1430262254
|
|
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)
|
rs121908627
|
|
NM_005560.6(LAMA5):c.10735-3_10735-2insCCCTTCCTACCCCT
|
rs762469320
|
|
NM_005560.6(LAMA5):c.7211G>A (p.Arg2404His)
|
rs144740011
|
|
NM_005591.4(MRE11):c.1811G>A (p.Arg604His)
|
rs148637964
|
|
NM_005739.4(RASGRP1):c.849+8A>G
|
|
|
NM_005993.5(TBCD):c.-6G>T
|
|
|
NM_006005.3(WFS1):c.1653C>A (p.Ser551=)
|
rs766730980
|
|
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.261_278del (p.Ala88_Gly93del)
|
rs749452696
|
|
NM_006015.6(ARID1A):c.4114C>T (p.Pro1372Ser)
|
|
|
NM_006017.3(PROM1):c.2514-4A>G
|
rs1236769724
|
|
NM_006231.4(POLE):c.286-8_286-7del
|
rs2043139110
|
|
NM_006311.4(NCOR1):c.148G>A (p.Val50Met)
|
|
|
NM_006514.4(SCN10A):c.1667A>T (p.Gln556Leu)
|
rs1423285355
|
|
NM_006516.4(SLC2A1):c.1215C>T (p.Ala405=)
|
rs769506294
|
|
NM_006516.4(SLC2A1):c.1408G>C (p.Gly470Arg)
|
rs572648977
|
|
NM_006516.4(SLC2A1):c.1467T>C (p.Asp489=)
|
rs1181822928
|
|
NM_006516.4(SLC2A1):c.726G>A (p.Gln242=)
|
rs1570592618
|
|
NM_006766.5(KAT6A):c.2869G>C (p.Ala957Pro)
|
rs374802138
|
|
NM_006766.5(KAT6A):c.3086A>G (p.His1029Arg)
|
|
|
NM_006766.5(KAT6A):c.5600C>T (p.Ala1867Val)
|
|
|
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)
|
rs117182113
|
|
NM_007050.6(PTPRT):c.1306G>A (p.Glu436Lys)
|
|
|
NM_007254.4(PNKP):c.1188+8del
|
rs763782151
|
|
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val)
|
rs1397842308
|
|
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala)
|
rs16941
|
|
NM_012062.5(DNM1L):c.457-10_457-7del
|
rs769118365
|
|
NM_012092.4(ICOS):c.501+6C>G
|
rs4264550
|
|
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)
|
rs143509747
|
|
NM_014225.6(PPP2R1A):c.1129-7_1129-3del
|
rs1064797248
|
|
NM_014249.4(NR2E3):c.1182C>T (p.Thr394=)
|
rs2140294988
|
|
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg)
|
rs758570844
|
|
NM_014727.3(KMT2B):c.1211C>T (p.Pro404Leu)
|
|
|
NM_014727.3(KMT2B):c.1650C>G (p.Asp550Glu)
|
|
|
NM_014727.3(KMT2B):c.1918T>A (p.Ser640Thr)
|
|
|
NM_014727.3(KMT2B):c.4028G>A (p.Arg1343His)
|
|
|
NM_014727.3(KMT2B):c.4379A>G (p.His1460Arg)
|
|
|
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.6413C>T (p.Pro2138Leu)
|
rs772818778
|
|
NM_014727.3(KMT2B):c.6782C>A (p.Thr2261Lys)
|
|
|
NM_014727.3(KMT2B):c.6968G>A (p.Arg2323His)
|
|
|
NM_014795.4(ZEB2):c.1542G>T (p.Pro514=)
|
rs141674976
|
|
NM_014813.3(LRIG2):c.1649G>A (p.Arg550His)
|
|
|
NM_014845.6(FIG4):c.2547-5T>G
|
rs200267243
|
|
NM_014946.4(SPAST):c.586+9_586+12del
|
rs554544808
|
|
NM_014989.7(RIMS1):c.3116+8C>T
|
rs1277312139
|
|
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del)
|
rs572772837
|
|
NM_015073.3(SIPA1L3):c.163GCCACC[4] (p.55AT[4])
|
|
|
NM_015103.3(PLXND1):c.1578C>G (p.Asp526Glu)
|
|
|
NM_015135.3(NUP205):c.5276A>G (p.Asn1759Ser)
|
|
|
NM_015160.3(PMPCA):c.897+6G>A
|
rs150776126
|
|
NM_015175.3(NBEAL2):c.6691+3_6691+6dup
|
rs557640338
|
|
NM_015274.3(MAN2B2):c.1339C>G (p.Arg447Gly)
|
|
|
NM_015338.6(ASXL1):c.2011G>T (p.Ala671Ser)
|
rs1600586513
|
|
NM_015346.4(ZFYVE26):c.3248_3253del (p.Leu1083_Ser1084del)
|
rs761454264
|
|
NM_015346.4(ZFYVE26):c.715C>T (p.Leu239=)
|
|
|
NM_015466.4(PTPN23):c.547-7G>A
|
|
|
NM_015559.3(SETBP1):c.2722G>A (p.Asp908Asn)
|
|
|
NM_015559.3(SETBP1):c.428G>A (p.Arg143His)
|
|
|
NM_015559.3(SETBP1):c.4580C>T (p.Pro1527Leu)
|
|
|
NM_015559.3(SETBP1):c.927C>A (p.Asn309Lys)
|
rs199603131
|
|
NM_015909.4(NBAS):c.1091A>G (p.Tyr364Cys)
|
rs534890707
|
|
NM_015922.3(NSDHL):c.1108C>T (p.Arg370Trp)
|
rs151248633
|
|
NM_015922.3(NSDHL):c.816C>A (p.Pro272=)
|
rs1328593149
|
|
NM_015922.3(NSDHL):c.842G>A (p.Arg281His)
|
rs782143078
|
|
NM_016239.4(MYO15A):c.374G>A (p.Arg125Gln)
|
|
|
NM_016390.3(SPOUT1):c.102dup (p.Trp35Metfs)
|
rs749421754
|
|
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His)
|
rs143918373
|
|
NM_017649.5(CNNM2):c.2421C>A (p.Ile807=)
|
|
|
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala)
|
rs77389229
|
|
NM_018896.5(CACNA1G):c.3449G>A (p.Arg1150Gln)
|
|
|
NM_018993.4(RIN2):c.2260G>A (p.Glu754Lys)
|
rs375974979
|
|
NM_018993.4(RIN2):c.77C>T (p.Ser26Leu)
|
rs577973228
|
|
NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del)
|
rs758914061
|
|
NM_019112.3(ABCA7):c.2126_2132del (p.Glu709fs)
|
rs547447016
|
|
NM_019842.4(KCNQ5):c.703C>T (p.Arg235Cys)
|
rs2150391522
|
|
NM_020198.3(CCDC47):c.118G>A (p.Ala40Thr)
|
|
|
NM_020297.4(ABCC9):c.2470C>A (p.Arg824=)
|
rs779866340
|
|
NM_020338.4(ZMIZ1):c.2978C>T (p.Pro993Leu)
|
|
|
NM_020812.4(DOCK6):c.3163G>A (p.Val1055Met)
|
rs202209921
|
|
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg)
|
rs1060505000
|
|
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del)
|
rs754629346
|
|
NM_020987.5(ANK3):c.11007C>A (p.Thr3669=)
|
rs2131966858
|
|
NM_021076.4(NEFH):c.727G>A (p.Gly243Ser)
|
rs548521745
|
|
NM_021729.6(VPS11):c.336+8C>T
|
rs1555201791
|
|
NM_021942.6(TRAPPC11):c.2628+10del
|
rs150593522
|
|
NM_022095.4(ZNF335):c.131C>G (p.Ala44Gly)
|
|
|
NM_022835.3(PLEKHG2):c.882+8del
|
rs571854709
|
|
NM_024009.3(GJB3):c.479G>A (p.Arg160His)
|
rs200055020
|
|
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del)
|
rs746639451
|
|
NM_024640.4(YRDC):c.739G>A (p.Gly247Arg)
|
|
|
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)
|
rs181121175
|
|
NM_032357.4(CCDC115):c.406C>G (p.Gln136Glu)
|
|
|
NM_032578.4(MYPN):c.1875C>G (p.Pro625=)
|
rs2673793
|
|
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp)
|
rs149887823
|
|
NM_032603.5(LOXL3):c.1330_1332del (p.Leu444del)
|
rs574365163
|
|
NM_053025.4(MYLK):c.4289-3del
|
rs41431347
|
|
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)
|
rs370212314
|
|
NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup)
|
rs374899270
|
|
NM_144666.3(DNHD1):c.4041C>A (p.Ser1347Arg)
|
rs189772244
|
|
NM_152296.5(ATP1A3):c.2543-6T>A
|
rs1599705282
|
|
NM_170606.3(KMT2C):c.1402C>G (p.Pro468Ala)
|
rs140919432
|
|
NM_170754.4(TNS2):c.1213G>A (p.Glu405Lys)
|
|
|
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu)
|
rs770730662
|
|
NM_172362.3(KCNH1):c.2414C>T (p.Thr805Ile)
|
|
|
NM_173076.3(ABCA12):c.2638G>C (p.Val880Leu)
|
rs146002078
|
|
NM_173500.4(TTBK2):c.3081A>G (p.Thr1027=)
|
rs911630565
|
|
NM_173651.4(FSIP2):c.11144C>T (p.Thr3715Met)
|
|
|
NM_174916.3(UBR1):c.3998-7_3998-5del
|
|
|
NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg)
|
rs201454653
|
|
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr)
|
rs148028681
|
|
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)
|
rs150376715
|
|
NM_182961.4(SYNE1):c.9904A>G (p.Met3302Val)
|
rs1171056771
|
|
NM_183065.4(TMEM107):c.*656G>A
|
rs148909909
|
|
NM_183075.3(CYP2U1):c.869T>C (p.Ile290Thr)
|
rs761095930
|
|
NM_198525.3(KIF7):c.2549G>T (p.Arg850Leu)
|
rs141514601
|
|
NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del)
|
rs727503941
|
|
NM_198994.3(TGM6):c.1430_1431delinsTCTCTGGCGTGACGACCTCCTGGA (p.Gly477fs)
|
rs2122409537
|
|
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro)
|
rs199504105
|
|
NM_206933.4(USH2A):c.10413A>G (p.Thr3471=)
|
rs530322386
|
|
NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly)
|
rs553956503
|
|
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)
|
rs727505155
|
|
NM_206933.4(USH2A):c.2880T>C (p.Asn960=)
|
rs151177516
|
|