ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from CeGaT Center for Human Genetics Tuebingen and "likely benign" from any submitter

Minimum review status of the submission from CeGaT Center for Human Genetics Tuebingen: Collection method of the submission from CeGaT Center for Human Genetics Tuebingen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2622
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HGVS dbSNP gnomAD frequency
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

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