NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.17677
|
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)
|
rs34526199
|
0.02732
|
NM_000321.3(RB1):c.2212-16T>A
|
rs201258424
|
0.01386
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
NM_001305581.2(LRMDA):c.132-253012del
|
rs146123023
|
0.00977
|
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)
|
rs193922854
|
0.00873
|
NM_004700.4(KCNQ4):c.-14G>T
|
rs886042324
|
0.00867
|
NM_005609.4(PYGM):c.1092+6dup
|
rs368602234
|
0.00657
|
NM_000035.4(ALDOB):c.-214G>A
|
rs185972191
|
0.00640
|
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg)
|
rs200367963
|
0.00631
|
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys)
|
rs201355503
|
0.00629
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_000275.3(OCA2):c.574-19A>G
|
rs145242923
|
0.00618
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00598
|
NM_138694.4(PKHD1):c.2279+13T>G
|
rs188914598
|
0.00572
|
NM_000243.3(MEFV):c.1587+33C>G
|
rs146820856
|
0.00556
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu)
|
rs77951481
|
0.00511
|
NM_001367624.2(ZNF469):c.11277C>T (p.Ser3759=)
|
rs372634401
|
0.00490
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00476
|
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=)
|
rs113803159
|
0.00468
|
NM_000407.5(GP1BB):c.399C>T (p.Ala133=)
|
rs142352780
|
0.00467
|
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met)
|
rs587784372
|
0.00440
|
NM_002693.3(POLG):c.-80C>T
|
rs3087378
|
0.00435
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00433
|
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
|
rs35026927
|
0.00426
|
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)
|
rs116005007
|
0.00425
|
NM_000492.4(CFTR):c.-226G>T
|
rs73717525
|
0.00422
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00417
|
NM_000163.5(GHR):c.535C>T (p.Arg179Cys)
|
rs121909362
|
0.00405
|
NM_000747.3(CHRNB1):c.342G>A (p.Val114=)
|
rs75019736
|
0.00404
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00393
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)
|
rs187695569
|
0.00389
|
NM_006208.3(ENPP1):c.313+10del
|
rs778260177
|
0.00389
|
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe)
|
rs138886378
|
0.00387
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)
|
rs12713843
|
0.00376
|
NM_000271.5(NPC1):c.1947+14_1947+15insC
|
rs201170241
|
0.00371
|
NM_002892.4(ARID4A):c.3211+1G>A
|
rs62621193
|
0.00363
|
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=)
|
rs141724499
|
0.00360
|
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)
|
rs34491822
|
0.00357
|
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)
|
rs78042826
|
0.00353
|
NM_003977.4(AIP):c.100-18C>T
|
rs202156895
|
0.00352
|
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala)
|
rs9282543
|
0.00352
|
NM_006059.4(LAMC3):c.2891-8C>T
|
rs199535979
|
0.00339
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00328
|
NM_001165967.2(HES7):c.591C>T (p.Pro197=)
|
rs558811781
|
0.00326
|
NM_020822.3(KCNT1):c.99A>G (p.Gln33=)
|
rs146152956
|
0.00323
|
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter)
|
rs116131367
|
0.00318
|
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=)
|
rs150435442
|
0.00315
|
NM_000540.3(RYR1):c.9685+16C>T
|
rs45496799
|
0.00312
|
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)
|
rs114089598
|
0.00312
|
NM_014244.5(ADAMTS2):c.2751-4G>A
|
rs112155474
|
0.00312
|
NM_032634.4(PIGO):c.2268G>A (p.Ala756=)
|
rs149171782
|
0.00310
|
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu)
|
rs139266382
|
0.00309
|
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)
|
rs61733519
|
0.00307
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln)
|
rs539194350
|
0.00306
|
NM_019066.5(MAGEL2):c.1286C>T (p.Pro429Leu)
|
rs2233061
|
0.00306
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
NM_001110219.3(GJB6):c.489G>A (p.Leu163=)
|
rs35002004
|
0.00300
|
NM_020361.5(CPA6):c.809C>T (p.Ala270Val)
|
rs114402678
|
0.00300
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00299
|
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)
|
rs150418024
|
0.00299
|
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)
|
rs532731688
|
0.00297
|
NM_015404.4(WHRN):c.1365T>C (p.Ser455=)
|
rs111033459
|
0.00294
|
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln)
|
rs188101277
|
0.00292
|
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr)
|
rs200502811
|
0.00291
|
NM_000371.4(TTR):c.336+19G>A
|
rs75517067
|
0.00289
|
NM_021098.3(CACNA1H):c.4039-4G>A
|
rs57315342
|
0.00287
|
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp)
|
rs587780375
|
0.00286
|
NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu)
|
rs61966074
|
0.00285
|
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=)
|
rs111866498
|
0.00284
|
NM_001909.5(CTSD):c.912G>A (p.Pro304=)
|
rs140238987
|
0.00281
|
NM_004527.4(MEOX1):c.126G>A (p.Pro42=)
|
rs141693578
|
0.00280
|
NM_006059.4(LAMC3):c.2517G>A (p.Thr839=)
|
rs140540789
|
0.00280
|
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)
|
rs147551003
|
0.00280
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00279
|
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His)
|
rs34615430
|
0.00276
|
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)
|
rs189476639
|
0.00275
|
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala)
|
rs56204478
|
0.00275
|
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp)
|
rs2230516
|
0.00274
|
NM_012208.4(HARS2):c.7C>G (p.Leu3Val)
|
rs186043734
|
0.00273
|
NM_001177316.2(SLC34A3):c.1149C>T (p.Ala383=)
|
rs199536442
|
0.00271
|
NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser)
|
rs56148525
|
0.00271
|
NM_000278.5(PAX2):c.360C>T (p.Ala120=)
|
rs41291450
|
0.00270
|
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser)
|
rs149081471
|
0.00270
|
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe)
|
rs28390202
|
0.00270
|
NM_000218.3(KCNQ1):c.-5T>C
|
rs532941548
|
0.00263
|
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln)
|
rs146573578
|
0.00262
|
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)
|
rs187546086
|
0.00261
|
NM_000431.4(MVK):c.238G>A (p.Val80Ile)
|
rs76914224
|
0.00259
|
NM_003737.4(DCHS1):c.4072G>A (p.Glu1358Lys)
|
rs184586428
|
0.00259
|
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val)
|
rs55791823
|
0.00259
|
NM_194248.3(OTOF):c.2215-80T>C
|
rs143141993
|
0.00259
|
NM_001201543.2(FAM161A):c.354G>T (p.Gln118His)
|
rs140622968
|
0.00258
|
NM_006059.4(LAMC3):c.4160C>T (p.Ala1387Val)
|
rs141497885
|
0.00258
|
NM_005562.3(LAMC2):c.1899G>C (p.Leu633=)
|
rs141812464
|
0.00257
|
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser)
|
rs35373464
|
0.00256
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)
|
rs375045076
|
0.00255
|
NM_144988.4(ALG14):c.113G>T (p.Ser38Ile)
|
rs139521179
|
0.00255
|
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)
|
rs201342438
|
0.00253
|
NM_013435.3(RAX):c.197G>C (p.Arg66Thr)
|
rs536765190
|
0.00253
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00253
|
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp)
|
rs1872267
|
0.00253
|
NM_000260.4(MYO7A):c.1554+8G>A
|
rs111033227
|
0.00249
|
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln)
|
rs113591604
|
0.00249
|
NM_000444.6(PHEX):c.1344C>T (p.Asp448=)
|
rs144911719
|
0.00247
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00245
|
NM_005379.4(MYO1A):c.2724+7G>A
|
rs55985817
|
0.00244
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00243
|
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu)
|
rs143929832
|
0.00242
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00241
|
NM_025074.7(FRAS1):c.7033G>A (p.Glu2345Lys)
|
rs56291926
|
0.00241
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00240
|
NM_000261.2(MYOC):c.366C>T (p.Gly122=)
|
rs145354114
|
0.00240
|
NM_002435.3(MPI):c.303C>T (p.Leu101=)
|
rs139228075
|
0.00240
|
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu)
|
rs143827025
|
0.00240
|
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys)
|
rs145310298
|
0.00238
|
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)
|
rs143777403
|
0.00238
|
NM_001384732.1(CPLANE1):c.8958+4A>C
|
rs199810663
|
0.00237
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00237
|
NM_000426.4(LAMA2):c.4959+6G>T
|
rs148060790
|
0.00236
|
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=)
|
rs35654397
|
0.00236
|
NM_024809.5(TCTN2):c.720C>G (p.Pro240=)
|
rs149430216
|
0.00236
|
NM_000255.4(MMUT):c.205A>G (p.Ile69Val)
|
rs115923556
|
0.00234
|
NM_006204.4(PDE6C):c.2037-7T>C
|
rs181296577
|
0.00234
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)
|
rs113106943
|
0.00232
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=)
|
rs34352773
|
0.00232
|
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val)
|
rs142062146
|
0.00231
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00231
|
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)
|
rs56329646
|
0.00231
|
NM_001715.3(BLK):c.674C>T (p.Pro225Leu)
|
rs144592409
|
0.00230
|
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly)
|
rs531879999
|
0.00229
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
0.00228
|
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)
|
rs189186475
|
0.00227
|
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)
|
rs141010716
|
0.00227
|
NM_012092.4(ICOS):c.451G>C (p.Val151Leu)
|
rs76778263
|
0.00226
|
NM_015295.3(SMCHD1):c.424+10C>T
|
rs201631086
|
0.00225
|
NM_000392.5(ABCC2):c.1032-3C>T
|
rs139800035
|
0.00224
|
NM_024809.5(TCTN2):c.-2G>A
|
rs141768405
|
0.00224
|
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=)
|
rs149172723
|
0.00223
|
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp)
|
rs371307947
|
0.00222
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00221
|
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=)
|
rs150638770
|
0.00220
|
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu)
|
rs144746030
|
0.00220
|
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=)
|
rs111033292
|
0.00220
|
NM_002334.4(LRP4):c.1048+7G>T
|
rs148557097
|
0.00220
|
NM_014336.5(AIPL1):c.516T>C (p.His172=)
|
rs62637017
|
0.00220
|
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=)
|
rs36100288
|
0.00220
|
NM_183050.4(BCKDHB):c.742+16A>G
|
rs140373763
|
0.00220
|
NM_000019.4(ACAT1):c.60G>C (p.Arg20=)
|
rs77311724
|
0.00219
|
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val)
|
rs202071528
|
0.00219
|
NM_052859.4(RFT1):c.382C>T (p.Leu128Phe)
|
rs140127085
|
0.00219
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00218
|
NM_000098.3(CPT2):c.1806T>C (p.Phe602=)
|
rs147953465
|
0.00218
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00218
|
NM_001305581.2(LRMDA):c.193C>T (p.Leu65=)
|
rs147768808
|
0.00217
|
NM_005506.4(SCARB2):c.445G>A (p.Val149Met)
|
rs147159813
|
0.00217
|
NM_139125.4(MASP1):c.1521G>A (p.Thr507=)
|
rs139497497
|
0.00216
|
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=)
|
rs61757111
|
0.00215
|
NM_004447.6(EPS8):c.1876C>A (p.Pro626Thr)
|
rs142733590
|
0.00215
|
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)
|
rs370286749
|
0.00214
|
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr)
|
rs199727372
|
0.00214
|
NM_144631.6(ZNF513):c.781G>A (p.Val261Met)
|
rs61742428
|
0.00214
|
NM_001048166.1(STIL):c.1024-4T>C
|
rs188900275
|
0.00213
|
NM_002335.4(LRP5):c.2124G>A (p.Ser708=)
|
rs140977837
|
0.00213
|
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu)
|
rs149953814
|
0.00213
|
NM_018699.4(PRDM5):c.1283-5C>T
|
rs185134294
|
0.00213
|
NM_018943.3(TUBA8):c.1334A>T (p.Glu445Val)
|
rs138073466
|
0.00213
|
NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met)
|
rs62089120
|
0.00213
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00212
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00212
|
NM_004625.4(WNT7A):c.861G>A (p.Val287=)
|
rs149962459
|
0.00210
|
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)
|
rs76024428
|
0.00209
|
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)
|
rs61752842
|
0.00208
|
NM_001849.4(COL6A2):c.1333-10C>G
|
rs199513044
|
0.00207
|
NM_147127.5(EVC2):c.18C>T (p.Ser6=)
|
rs556910528
|
0.00207
|
NM_000540.3(RYR1):c.2121C>A (p.Gly707=)
|
rs146104858
|
0.00206
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)
|
rs139738333
|
0.00205
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
NM_001379270.1(CNGA1):c.1031A>G (p.Lys344Arg)
|
rs140419673
|
0.00205
|
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser)
|
rs151271754
|
0.00205
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)
|
rs61733680
|
0.00204
|
NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=)
|
rs138823379
|
0.00204
|
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr)
|
rs148261539
|
0.00204
|
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)
|
rs137973321
|
0.00204
|
NM_133642.5(LARGE1):c.210C>T (p.Arg70=)
|
rs145048151
|
0.00204
|
NM_207361.6(FREM2):c.9113T>C (p.Val3038Ala)
|
rs114688149
|
0.00204
|
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)
|
rs148378319
|
0.00203
|
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)
|
rs138410949
|
0.00203
|
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)
|
rs148040591
|
0.00201
|
NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp)
|
rs146547678
|
0.00201
|
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val)
|
rs145547375
|
0.00201
|
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)
|
rs41269557
|
0.00201
|
NC_000007.14:g.117479634A>G
|
rs185028612
|
0.00200
|
NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg)
|
rs200543687
|
0.00200
|
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr)
|
rs143092701
|
0.00200
|
NM_014639.4(SKIC3):c.3207G>C (p.Glu1069Asp)
|
rs143346257
|
0.00200
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
NM_006329.4(FBLN5):c.376G>A (p.Val126Met)
|
rs61734479
|
0.00199
|
NM_194318.4(B3GLCT):c.271-8T>C
|
rs183322816
|
0.00199
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00198
|
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His)
|
rs142799217
|
0.00198
|
NM_004407.4(DMP1):c.815G>A (p.Arg272His)
|
rs145237146
|
0.00198
|
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)
|
rs149522482
|
0.00198
|
NM_000260.4(MYO7A):c.3750+9G>A
|
rs111033252
|
0.00197
|
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile)
|
rs183406496
|
0.00197
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=)
|
rs144125797
|
0.00196
|
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser)
|
rs75525811
|
0.00196
|
NM_206937.2(LIG4):c.686A>G (p.His229Arg)
|
rs142957638
|
0.00196
|
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)
|
rs73945001
|
0.00195
|
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly)
|
rs202085918
|
0.00195
|
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu)
|
rs150687987
|
0.00195
|
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr)
|
rs147012990
|
0.00194
|
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln)
|
rs189931659
|
0.00194
|
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln)
|
rs140660854
|
0.00194
|
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp)
|
rs139134727
|
0.00194
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_153717.3(EVC):c.93C>G (p.Ala31=)
|
rs866226288
|
0.00194
|
NM_000601.6(HGF):c.1008G>A (p.Glu336=)
|
rs148714837
|
0.00193
|
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)
|
rs150278938
|
0.00193
|
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)
|
rs56107171
|
0.00193
|
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val)
|
rs141873943
|
0.00193
|
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu)
|
rs149978500
|
0.00193
|
NM_000540.3(RYR1):c.271-7C>G
|
rs192495718
|
0.00192
|
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met)
|
rs141202530
|
0.00192
|
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg)
|
rs148328539
|
0.00192
|
NM_004994.3(MMP9):c.886G>A (p.Gly296Ser)
|
rs144098289
|
0.00191
|
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)
|
rs756852655
|
0.00191
|
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=)
|
rs141235641
|
0.00191
|
NM_001102608.3(COL6A6):c.4300G>T (p.Gly1434Ter)
|
rs140872639
|
0.00190
|
NM_001605.3(AARS1):c.2521-3C>T
|
rs200586605
|
0.00190
|
NM_003647.3(DGKE):c.1679A>G (p.Gln560Arg)
|
rs61751972
|
0.00190
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
NM_001195263.2(PDZD7):c.2719-9C>A
|
rs184247824
|
0.00189
|
NM_001377.3(DYNC2H1):c.5334+6G>A
|
rs372964069
|
0.00189
|
NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr)
|
rs150426222
|
0.00189
|
NM_000027.4(AGA):c.436T>G (p.Leu146Val)
|
rs146381591
|
0.00188
|
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala)
|
rs4253046
|
0.00188
|
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser)
|
rs139539448
|
0.00188
|
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr)
|
rs200775946
|
0.00187
|
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)
|
rs35193202
|
0.00187
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
NM_000096.4(CP):c.2571C>T (p.Tyr857=)
|
rs151304828
|
0.00186
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00186
|
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)
|
rs146321088
|
0.00186
|
NM_014780.5(CUL7):c.2645G>A (p.Arg882Gln)
|
rs45574335
|
0.00185
|
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu)
|
rs201234482
|
0.00185
|
NM_020549.5(CHAT):c.1248C>T (p.Asn416=)
|
rs116071049
|
0.00185
|
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)
|
rs147587689
|
0.00185
|
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=)
|
rs148755655
|
0.00184
|
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)
|
rs138509553
|
0.00184
|
NM_015404.4(WHRN):c.1627-5T>A
|
rs187221008
|
0.00184
|
NM_000306.4(POU1F1):c.370A>G (p.Met124Val)
|
rs143373007
|
0.00183
|
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=)
|
rs147884766
|
0.00183
|
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=)
|
rs146747080
|
0.00183
|
NM_001195248.2(APTX):c.742T>A (p.Leu248Met)
|
rs141195622
|
0.00183
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00183
|
NM_153676.4(USH1C):c.2014-1G>A
|
rs150567427
|
0.00183
|
NM_203288.2(RP9):c.34G>A (p.Ala12Thr)
|
rs775870239
|
0.00183
|
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr)
|
rs202215735
|
0.00182
|
NM_001130823.3(DNMT1):c.150C>T (p.His50=)
|
rs146112081
|
0.00182
|
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)
|
rs201979610
|
0.00182
|
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln)
|
rs137974620
|
0.00182
|
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=)
|
rs145144233
|
0.00182
|
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn)
|
rs144586270
|
0.00182
|
NM_173660.5(DOK7):c.1278C>T (p.Pro426=)
|
rs139468087
|
0.00181
|
NM_177965.4(CFAP418):c.512T>G (p.Ile171Arg)
|
rs143893647
|
0.00181
|
NM_000452.3(SLC10A2):c.762-3T>C
|
rs190734512
|
0.00180
|
NM_000709.4(BCKDHA):c.485-28G>A
|
rs114178789
|
0.00180
|
NM_005559.4(LAMA1):c.6354C>T (p.Val2118=)
|
rs150849018
|
0.00180
|
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)
|
rs61760163
|
0.00179
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg)
|
rs144682235
|
0.00179
|
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_000152.5(GAA):c.2332-12A>T
|
rs200965268
|
0.00178
|
NM_000321.3(RB1):c.2212-15A>G
|
rs372815788
|
0.00178
|
NM_000780.4(CYP7A1):c.38C>T (p.Ala13Val)
|
rs147162838
|
0.00178
|
NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly)
|
rs148168366
|
0.00178
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00178
|
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser)
|
rs141235720
|
0.00178
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
NM_020223.4(FAM20C):c.252C>A (p.Asn84Lys)
|
rs190382829
|
0.00178
|
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)
|
rs145569846
|
0.00178
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser)
|
rs201884779
|
0.00177
|
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu)
|
rs199610834
|
0.00177
|
NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr)
|
rs148591757
|
0.00177
|
NM_015311.3(OBSL1):c.375G>A (p.Glu125=)
|
rs374656370
|
0.00177
|
NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr)
|
rs139560004
|
0.00177
|
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln)
|
rs33958176
|
0.00176
|
NM_173630.4(RTTN):c.3048G>A (p.Pro1016=)
|
rs149233888
|
0.00176
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00176
|
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly)
|
rs141363186
|
0.00175
|
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)
|
rs148108322
|
0.00175
|
NM_001034852.3(SMOC1):c.230C>T (p.Pro77Leu)
|
rs143606483
|
0.00175
|
NM_005609.4(PYGM):c.924C>T (p.Ile308=)
|
rs139726186
|
0.00175
|
NM_006059.4(LAMC3):c.1520-6G>A
|
rs192031352
|
0.00175
|
NM_016729.3(FOLR1):c.493+2T>C
|
rs144637717
|
0.00175
|
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)
|
rs55999987
|
0.00175
|
NM_182943.3(PLOD2):c.1639T>C (p.Tyr547His)
|
rs115199093
|
0.00175
|
NM_002181.4(IHH):c.1051G>A (p.Val351Met)
|
rs143959492
|
0.00174
|
NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys)
|
rs142563930
|
0.00174
|
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)
|
rs139834542
|
0.00174
|
NM_000268.4(NF2):c.1123-6C>T
|
rs147898623
|
0.00173
|
NM_001171.6(ABCC6):c.1263C>T (p.Thr421=)
|
rs114179357
|
0.00173
|
NM_001953.5(TYMP):c.1290G>A (p.Arg430=)
|
rs570574111
|
0.00173
|
NM_002529.4(NTRK1):c.10G>A (p.Gly4Ser)
|
rs556840308
|
0.00173
|
NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=)
|
rs117685425
|
0.00173
|
NM_020812.4(DOCK6):c.4862T>C (p.Val1621Ala)
|
rs201738818
|
0.00173
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00172
|
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
|
rs72677232
|
0.00172
|
NM_001366722.1(GRIP1):c.3207C>T (p.Pro1069=)
|
rs187691546
|
0.00172
|
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His)
|
rs77939839
|
0.00172
|
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe)
|
rs201563576
|
0.00172
|
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)
|
rs138544311
|
0.00172
|
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)
|
rs61736380
|
0.00172
|
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu)
|
rs200742016
|
0.00172
|
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)
|
rs56136489
|
0.00172
|
NM_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr)
|
rs72657309
|
0.00171
|
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)
|
rs188336294
|
0.00171
|
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=)
|
rs115003742
|
0.00171
|
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=)
|
rs191846522
|
0.00170
|
NM_001267550.2(TTN):c.8902+14T>A
|
rs13388274
|
0.00170
|
NM_001364905.1(LRBA):c.2637G>A (p.Lys879=)
|
rs138956153
|
0.00170
|
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)
|
rs184458982
|
0.00170
|
NM_004625.4(WNT7A):c.555C>T (p.Asn185=)
|
rs149363953
|
0.00170
|
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
|
rs138241615
|
0.00170
|
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=)
|
rs140949805
|
0.00170
|
NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser)
|
rs61750320
|
0.00170
|
NM_018451.5(CPAP):c.1021T>G (p.Tyr341Asp)
|
rs143258862
|
0.00170
|
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln)
|
rs144800506
|
0.00170
|
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)
|
rs117422805
|
0.00169
|
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)
|
rs56077602
|
0.00169
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)
|
rs61754024
|
0.00168
|
NM_000492.4(CFTR):c.1365G>A (p.Ala455=)
|
rs79074685
|
0.00168
|
NM_000539.3(RHO):c.480C>A (p.Thr160=)
|
rs151063543
|
0.00168
|
NM_001371986.1(UNC80):c.4141C>G (p.Pro1381Ala)
|
rs192242889
|
0.00168
|
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)
|
rs373924055
|
0.00168
|
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=)
|
rs148008235
|
0.00168
|
NM_020427.3(SLURP1):c.310T>C (p.Ter104Arg)
|
rs62636565
|
0.00168
|
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=)
|
rs116541276
|
0.00167
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00166
|
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=)
|
rs73541508
|
0.00166
|
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu)
|
rs144664865
|
0.00166
|
NM_033100.4(CDHR1):c.526-7C>G
|
rs190906755
|
0.00166
|
NM_000426.4(LAMA2):c.7111T>G (p.Phe2371Val)
|
rs150644209
|
0.00164
|
NM_003193.5(TBCE):c.394G>A (p.Val132Ile)
|
rs144448831
|
0.00164
|
NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr)
|
rs142756983
|
0.00164
|
NM_201548.5(CERKL):c.27G>A (p.Arg9=)
|
rs368855330
|
0.00164
|
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met)
|
rs72773422
|
0.00163
|
NM_001482.3(GATM):c.669T>C (p.Tyr223=)
|
rs151231277
|
0.00163
|
NM_144631.6(ZNF513):c.290C>T (p.Ala97Val)
|
rs35554630
|
0.00163
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val)
|
rs143933602
|
0.00162
|
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)
|
rs61733140
|
0.00162
|
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=)
|
rs151331381
|
0.00162
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
NM_153676.4(USH1C):c.674+4G>A
|
rs202095395
|
0.00162
|
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp)
|
rs139879284
|
0.00161
|
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801
|
0.00161
|
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)
|
rs149871493
|
0.00161
|
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)
|
rs200936863
|
0.00160
|
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe)
|
rs145433186
|
0.00160
|
NM_005522.5(HOXA1):c.684A>G (p.Gln228=)
|
rs34462126
|
0.00160
|
NM_018979.4(WNK1):c.1074C>T (p.Thr358=)
|
rs72648621
|
0.00160
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00160
|
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser)
|
rs150545495
|
0.00160
|
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=)
|
rs144192700
|
0.00159
|
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)
|
rs142679083
|
0.00159
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)
|
rs143578698
|
0.00159
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
NM_001145715.3(KPNA7):c.1317+3G>A
|
rs138176387
|
0.00158
|
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met)
|
rs148616345
|
0.00158
|
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)
|
rs140782270
|
0.00158
|
NM_001379286.1(ZNF423):c.1655G>T (p.Gly552Val)
|
rs34425379
|
0.00158
|
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg)
|
rs183969516
|
0.00158
|
NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met)
|
rs140778634
|
0.00158
|
NM_032578.4(MYPN):c.1790G>A (p.Arg597His)
|
rs150911078
|
0.00158
|
NM_201384.3(PLEC):c.1955C>T (p.Thr652Ile)
|
rs190470017
|
0.00158
|
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)
|
rs142054672
|
0.00157
|
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr)
|
rs139633601
|
0.00157
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
NM_201384.3(PLEC):c.2458-8C>T
|
rs201818691
|
0.00157
|
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile)
|
rs148091558
|
0.00156
|
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=)
|
rs141859450
|
0.00156
|
NM_012301.4(MAGI2):c.2142G>A (p.Pro714=)
|
rs144574076
|
0.00156
|
NM_032856.5(WDR73):c.935G>A (p.Arg312Gln)
|
rs201294090
|
0.00156
|
NM_001003722.2(GLE1):c.1393T>A (p.Ser465Thr)
|
rs141709685
|
0.00155
|
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)
|
rs141640975
|
0.00155
|
NM_001130987.2(DYSF):c.3403-10G>A
|
rs116733194
|
0.00155
|
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg)
|
rs144494437
|
0.00155
|
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu)
|
rs146426296
|
0.00155
|
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser)
|
rs147586703
|
0.00155
|
NM_000362.5(TIMP3):c.516C>T (p.Phe172=)
|
rs149161075
|
0.00154
|
NM_001370658.1(BTD):c.201C>T (p.Asn67=)
|
rs147057169
|
0.00154
|
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)
|
rs80116829
|
0.00154
|
NM_003737.4(DCHS1):c.4555C>T (p.Pro1519Ser)
|
rs199544459
|
0.00154
|
NM_019066.5(MAGEL2):c.1470G>A (p.Pro490=)
|
rs771501846
|
0.00154
|
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr)
|
rs77959215
|
0.00154
|
NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala)
|
rs373913240
|
0.00153
|
NM_002900.3(RBP3):c.418G>A (p.Gly140Ser)
|
rs34932849
|
0.00153
|
NM_005216.5(DDOST):c.1148C>T (p.Thr383Ile)
|
rs145940009
|
0.00153
|
NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln)
|
rs143822761
|
0.00153
|
NM_201384.3(PLEC):c.2551G>A (p.Val851Met)
|
rs200647397
|
0.00153
|
NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln)
|
rs200239963
|
0.00153
|
NM_201548.5(CERKL):c.820+9G>A
|
rs189638090
|
0.00153
|
NM_000327.4(ROM1):c.81G>T (p.Leu27=)
|
rs148196509
|
0.00152
|
NM_000618.5(IGF1):c.207G>A (p.Arg69=)
|
rs147960415
|
0.00152
|
NM_004525.3(LRP2):c.9477G>A (p.Met3159Ile)
|
rs144322413
|
0.00152
|
NM_006017.3(PROM1):c.1345G>A (p.Val449Met)
|
rs200620291
|
0.00152
|
NM_133259.4(LRPPRC):c.3275+7G>A
|
rs111392631
|
0.00152
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
0.00151
|
NM_022098.4(XPNPEP3):c.590-8A>G
|
rs143719656
|
0.00151
|
NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile)
|
rs141479751
|
0.00150
|
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)
|
rs141399869
|
0.00150
|
NM_017780.4(CHD7):c.2067G>A (p.Thr689=)
|
rs34979623
|
0.00150
|
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)
|
rs138196132
|
0.00150
|
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln)
|
rs145726393
|
0.00150
|
NM_000553.6(WRN):c.355+4G>C
|
rs145764920
|
0.00149
|
NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg)
|
rs183521702
|
0.00149
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00149
|
NM_001845.6(COL4A1):c.1466-6C>T
|
rs183563055
|
0.00149
|
NM_001966.4(EHHADH):c.1666A>G (p.Arg556Gly)
|
rs140735525
|
0.00149
|
NM_016239.4(MYO15A):c.6785G>A (p.Arg2262His)
|
rs200623501
|
0.00149
|
NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=)
|
rs369083434
|
0.00149
|
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys)
|
rs146041189
|
0.00148
|
NM_004994.3(MMP9):c.773C>T (p.Thr258Ile)
|
rs41529445
|
0.00148
|
NM_012418.4(FSCN2):c.1230C>T (p.Asp410=)
|
rs182593453
|
0.00148
|
NM_018451.5(CPAP):c.646T>C (p.Cys216Arg)
|
rs143260721
|
0.00148
|
NM_025137.4(SPG11):c.4744-6T>C
|
rs147550048
|
0.00148
|
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)
|
rs199755408
|
0.00147
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00147
|
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln)
|
rs144060377
|
0.00147
|
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His)
|
rs182139018
|
0.00147
|
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)
|
rs139334167
|
0.00147
|
NM_194318.4(B3GLCT):c.1371A>G (p.Gln457=)
|
rs114941150
|
0.00147
|
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe)
|
rs201894544
|
0.00146
|
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys)
|
rs187662524
|
0.00146
|
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu)
|
rs141155976
|
0.00146
|
NM_001278182.2(EOMES):c.436C>T (p.Leu146Phe)
|
rs200215171
|
0.00146
|
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)
|
rs147688221
|
0.00146
|
NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=)
|
rs137973298
|
0.00146
|
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile)
|
rs139067427
|
0.00146
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00145
|
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)
|
rs147415774
|
0.00145
|
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=)
|
rs185574478
|
0.00145
|
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=)
|
rs138464813
|
0.00145
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_004183.4(BEST1):c.637-6C>T
|
rs62639356
|
0.00145
|
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=)
|
rs115049252
|
0.00145
|
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser)
|
rs151316028
|
0.00145
|
NM_016239.4(MYO15A):c.4623G>A (p.Thr1541=)
|
rs926074
|
0.00145
|
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn)
|
rs142232675
|
0.00145
|
NM_022436.3(ABCG5):c.957C>T (p.Ser319=)
|
rs146131711
|
0.00145
|
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)
|
rs146954342
|
0.00145
|
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile)
|
rs147851214
|
0.00145
|
NM_145200.5(CABP4):c.155G>A (p.Arg52Gln)
|
rs145789542
|
0.00145
|
NM_201384.3(PLEC):c.9558A>G (p.Thr3186=)
|
rs201102719
|
0.00145
|
NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=)
|
rs113358058
|
0.00145
|
NM_001365536.1(SCN9A):c.3051G>C (p.Lys1017Asn)
|
rs147623238
|
0.00144
|
NM_001848.3(COL6A1):c.588+8C>G
|
rs398123638
|
0.00144
|
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615
|
0.00144
|
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)
|
rs560874115
|
0.00144
|
NM_005562.3(LAMC2):c.889A>G (p.Thr297Ala)
|
rs143817389
|
0.00144
|
NM_024301.5(FKRP):c.567C>T (p.Pro189=)
|
rs201454433
|
0.00144
|
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=)
|
rs141787212
|
0.00144
|
NM_181741.4(ORC4):c.353T>C (p.Leu118Ser)
|
rs61750441
|
0.00144
|
NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile)
|
rs143877028
|
0.00144
|
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=)
|
rs2230029
|
0.00143
|
NM_000642.3(AGL):c.1875G>T (p.Thr625=)
|
rs141944878
|
0.00143
|
NM_001017995.3(SH3PXD2B):c.1955C>T (p.Thr652Met)
|
rs148050566
|
0.00143
|
NM_001353214.3(DYM):c.620+4T>G
|
rs201652921
|
0.00143
|
NM_001458.5(FLNC):c.6714C>T (p.Thr2238=)
|
rs10268251
|
0.00143
|
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)
|
rs145804755
|
0.00143
|
NM_201384.3(PLEC):c.6198G>T (p.Gln2066His)
|
rs201574539
|
0.00143
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00142
|
NM_000326.5(RLBP1):c.141+6G>A
|
rs181321141
|
0.00142
|
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys)
|
rs61757671
|
0.00142
|
NM_016239.4(MYO15A):c.54G>A (p.Lys18=)
|
rs144909486
|
0.00142
|
NM_018344.6(SLC29A3):c.687C>T (p.Ser229=)
|
rs113542201
|
0.00142
|
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=)
|
rs150807400
|
0.00142
|
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu)
|
rs146588336
|
0.00141
|
NM_002471.4(MYH6):c.5400C>T (p.Asp1800=)
|
rs144329079
|
0.00141
|
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)
|
rs142486386
|
0.00141
|
NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg)
|
rs201655861
|
0.00141
|
NM_000436.4(OXCT1):c.1491C>T (p.Asp497=)
|
rs144283422
|
0.00140
|
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=)
|
rs190336010
|
0.00140
|
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His)
|
rs202106628
|
0.00140
|
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=)
|
rs114797034
|
0.00140
|
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His)
|
rs112762655
|
0.00140
|
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys)
|
rs200510462
|
0.00140
|
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=)
|
rs113938044
|
0.00140
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00139
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00139
|
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=)
|
rs141095352
|
0.00139
|
NM_182914.3(SYNE2):c.15928T>C (p.Leu5310=)
|
rs74975380
|
0.00139
|
NM_207361.6(FREM2):c.5642-9T>C
|
rs148794835
|
0.00139
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00138
|
NM_003846.3(PEX11B):c.483A>G (p.Gly161=)
|
rs148000769
|
0.00138
|
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr)
|
rs144822294
|
0.00138
|
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)
|
rs145720191
|
0.00137
|
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His)
|
rs139991238
|
0.00137
|
NM_001378609.3(OTOGL):c.3213+10C>T
|
rs201373228
|
0.00137
|
NM_001458.5(FLNC):c.1698C>T (p.Ser566=)
|
rs112194548
|
0.00137
|
NM_005559.4(LAMA1):c.5867A>G (p.Asn1956Ser)
|
rs117433399
|
0.00137
|
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser)
|
rs202211640
|
0.00137
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00137
|
NM_000431.4(MVK):c.924C>T (p.Leu308=)
|
rs72648042
|
0.00136
|
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=)
|
rs146028040
|
0.00136
|
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys)
|
rs141280063
|
0.00135
|
NM_012254.3(SLC27A5):c.899-6C>T
|
rs200114980
|
0.00135
|
NM_015311.3(OBSL1):c.2466C>T (p.Ser822=)
|
rs146306059
|
0.00135
|
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)
|
rs143343508
|
0.00135
|
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=)
|
rs200799870
|
0.00134
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_001164508.2(NEB):c.1206C>T (p.Cys402=)
|
rs199695976
|
0.00134
|
NM_005957.5(MTHFR):c.708C>T (p.Phe236=)
|
rs34279942
|
0.00134
|
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys)
|
rs149510892
|
0.00134
|
NM_201384.3(PLEC):c.174+10del
|
rs528031000
|
0.00134
|
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met)
|
rs55698015
|
0.00133
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg)
|
rs753664726
|
0.00133
|
NM_001384474.1(LOXHD1):c.1961C>T (p.Pro654Leu)
|
rs369297699
|
0.00133
|
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser)
|
rs141553918
|
0.00133
|
NM_007254.4(PNKP):c.1491C>T (p.Ala497=)
|
rs116192442
|
0.00133
|
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg)
|
rs201373710
|
0.00133
|
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu)
|
rs199510509
|
0.00133
|
NM_182914.3(SYNE2):c.11313G>C (p.Gln3771His)
|
rs144596211
|
0.00133
|
NM_000276.4(OCRL):c.39+10G>A
|
rs765141317
|
0.00132
|
NM_000285.4(PEPD):c.104G>A (p.Arg35Gln)
|
rs200435937
|
0.00132
|
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr)
|
rs150570281
|
0.00132
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr)
|
rs142614369
|
0.00132
|
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=)
|
rs144256966
|
0.00132
|
NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys)
|
rs759725715
|
0.00132
|
NM_002435.3(MPI):c.10C>T (p.Pro4Ser)
|
rs143982014
|
0.00132
|
NM_003737.4(DCHS1):c.1493G>A (p.Arg498Gln)
|
rs150834672
|
0.00132
|
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser)
|
rs376451611
|
0.00132
|
NM_025074.7(FRAS1):c.108+10T>G
|
rs76831011
|
0.00132
|
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)
|
rs181626399
|
0.00132
|
NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys)
|
rs187011732
|
0.00132
|
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)
|
rs201258230
|
0.00131
|
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=)
|
rs189042259
|
0.00131
|
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)
|
rs375628894
|
0.00131
|
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala)
|
rs145163157
|
0.00131
|
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=)
|
rs201825451
|
0.00131
|
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser)
|
rs199784029
|
0.00131
|
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys)
|
rs141226650
|
0.00131
|
NM_001367624.2(ZNF469):c.9516C>T (p.Ala3172=)
|
rs577913880
|
0.00131
|
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)
|
rs61753359
|
0.00131
|
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)
|
rs150966847
|
0.00131
|
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn)
|
rs141553756
|
0.00131
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
NM_014140.4(SMARCAL1):c.2528+5G>C
|
rs145908212
|
0.00131
|
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp)
|
rs141433824
|
0.00131
|
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe)
|
rs201369510
|
0.00131
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=)
|
rs184127858
|
0.00131
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00131
|
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)
|
rs61749440
|
0.00130
|
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr)
|
rs76792613
|
0.00130
|
NM_007118.4(TRIO):c.41C>T (p.Ser14Phe)
|
rs905287265
|
0.00130
|
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543
|
0.00130
|
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=)
|
rs141475629
|
0.00130
|
NM_017807.4(OSGEP):c.355C>T (p.Leu119Phe)
|
rs147548960
|
0.00130
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
NM_000030.3(AGXT):c.866G>A (p.Arg289His)
|
rs61729604
|
0.00129
|
NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met)
|
rs142573385
|
0.00129
|
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)
|
rs201141958
|
0.00129
|
NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg)
|
rs145453157
|
0.00129
|
NM_001277115.2(DNAH11):c.2486G>A (p.Arg829His)
|
rs201261243
|
0.00129
|
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=)
|
rs370627443
|
0.00129
|
NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr)
|
rs121909075
|
0.00129
|
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)
|
rs142736845
|
0.00129
|
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)
|
rs139872089
|
0.00129
|
NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile)
|
rs150016894
|
0.00129
|
NM_201384.3(PLEC):c.12876G>A (p.Val4292=)
|
rs199509259
|
0.00129
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00128
|
NM_000159.4(GCDH):c.1143C>T (p.Ile381=)
|
rs142553521
|
0.00128
|
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn)
|
rs182151153
|
0.00128
|
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr)
|
rs73019664
|
0.00128
|
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)
|
rs145564837
|
0.00128
|
NM_020451.3(SELENON):c.729G>A (p.Pro243=)
|
rs139020143
|
0.00128
|
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)
|
rs115563233
|
0.00128
|
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)
|
rs142551229
|
0.00127
|
NM_000208.4(INSR):c.2736G>A (p.Arg912=)
|
rs147125937
|
0.00127
|
NM_000843.4(GRM6):c.1944G>T (p.Ala648=)
|
rs62638619
|
0.00127
|
NM_001292063.2(OTOG):c.7510G>A (p.Ala2504Thr)
|
rs548278514
|
0.00127
|
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=)
|
rs79392371
|
0.00127
|
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=)
|
rs200155519
|
0.00127
|
NM_001457.4(FLNB):c.6000T>C (p.Gly2000=)
|
rs140926445
|
0.00127
|
NM_001458.5(FLNC):c.1813+11G>T
|
rs138716837
|
0.00127
|
NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp)
|
rs140524715
|
0.00127
|
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)
|
rs144557304
|
0.00127
|
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys)
|
rs137978109
|
0.00127
|
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=)
|
rs138032057
|
0.00127
|
NM_194248.3(OTOF):c.578G>T (p.Arg193Ile)
|
rs139779680
|
0.00127
|
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val)
|
rs41562713
|
0.00126
|
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=)
|
rs139698110
|
0.00126
|
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)
|
rs142558977
|
0.00126
|
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val)
|
rs144289912
|
0.00126
|
NM_014875.3(KIF14):c.346G>A (p.Glu116Lys)
|
rs141768593
|
0.00126
|
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)
|
rs145693546
|
0.00126
|
NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile)
|
rs150807452
|
0.00126
|
NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser)
|
rs10227922
|
0.00125
|
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=)
|
rs61736168
|
0.00125
|
NM_004369.4(COL6A3):c.489G>A (p.Ala163=)
|
rs148970984
|
0.00125
|
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=)
|
rs146417316
|
0.00125
|
NM_020549.5(CHAT):c.909C>T (p.His303=)
|
rs76570508
|
0.00125
|
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)
|
rs184143186
|
0.00125
|
NM_030973.4(MED25):c.396C>T (p.Arg132=)
|
rs142353864
|
0.00125
|
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)
|
rs138976576
|
0.00124
|
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)
|
rs147580753
|
0.00124
|
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val)
|
rs140221316
|
0.00124
|
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter)
|
rs144321381
|
0.00124
|
NM_004727.3(SLC24A1):c.2445C>T (p.His815=)
|
rs185027365
|
0.00124
|
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser)
|
rs139037316
|
0.00124
|
NM_015102.5(NPHP4):c.800A>T (p.His267Leu)
|
rs201124357
|
0.00124
|
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)
|
rs183272965
|
0.00124
|
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe)
|
rs200542052
|
0.00124
|
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)
|
rs528000488
|
0.00124
|
NM_173602.3(DIP2B):c.2755C>A (p.Gln919Lys)
|
rs151181050
|
0.00124
|
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr)
|
rs143582502
|
0.00123
|
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys)
|
rs367630521
|
0.00123
|
NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln)
|
rs201636548
|
0.00123
|
NM_003865.3(HESX1):c.525G>A (p.Ala175=)
|
rs141063672
|
0.00123
|
NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu)
|
rs113443891
|
0.00123
|
NM_006261.5(PROP1):c.471C>T (p.Tyr157=)
|
rs145883811
|
0.00123
|
NM_006302.3(MOGS):c.2055T>C (p.Tyr685=)
|
rs202094225
|
0.00123
|
NM_006662.3(SRCAP):c.4189A>G (p.Ile1397Val)
|
rs144657822
|
0.00123
|
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser)
|
rs547548078
|
0.00123
|
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala)
|
rs11658164
|
0.00123
|
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=)
|
rs139677898
|
0.00123
|
NM_194248.3(OTOF):c.339C>T (p.Cys113=)
|
rs139098225
|
0.00123
|
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys)
|
rs200898220
|
0.00123
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00122
|
NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser)
|
rs146142715
|
0.00122
|
NM_001114086.2(CLIC5):c.361G>A (p.Ala121Thr)
|
rs189893797
|
0.00122
|
NM_002334.4(LRP4):c.639C>T (p.Asp213=)
|
rs144974139
|
0.00122
|
NM_006201.5(CDK16):c.727C>T (p.Leu243=)
|
rs145117961
|
0.00122
|
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg)
|
rs201156458
|
0.00122
|
NM_000414.4(HSD17B4):c.1210-8T>C
|
rs34254740
|
0.00121
|
NM_000426.4(LAMA2):c.8692A>C (p.Arg2898=)
|
rs200718262
|
0.00121
|
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys)
|
rs140901235
|
0.00121
|
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln)
|
rs41311778
|
0.00121
|
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)
|
rs114250691
|
0.00121
|
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)
|
rs202162520
|
0.00121
|
NM_001267550.2(TTN):c.76645G>A (p.Gly25549Ser)
|
rs181166140
|
0.00121
|
NM_001365536.1(SCN9A):c.5791G>C (p.Asp1931His)
|
rs200410805
|
0.00121
|
NM_002900.3(RBP3):c.299C>T (p.Pro100Leu)
|
rs143076262
|
0.00121
|
NM_005120.3(MED12):c.5400+6C>T
|
rs192656109
|
0.00121
|
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)
|
rs35993949
|
0.00121
|
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)
|
rs186394654
|
0.00121
|
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)
|
rs144973796
|
0.00121
|
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln)
|
rs140621272
|
0.00121
|
NM_133261.3(GIPC3):c.856G>A (p.Val286Ile)
|
rs138339125
|
0.00121
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00121
|
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=)
|
rs116197349
|
0.00121
|
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile)
|
rs140927945
|
0.00121
|
NM_198525.3(KIF7):c.3738C>G (p.Pro1246=)
|
rs144929293
|
0.00121
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)
|
rs145483148
|
0.00120
|
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly)
|
rs17222674
|
0.00120
|
NM_001127496.3(SPRY4):c.461A>G (p.Lys154Arg)
|
rs78310959
|
0.00120
|
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)
|
rs188093810
|
0.00120
|
NM_001395413.1(POR):c.1882G>A (p.Val628Ile)
|
rs145782750
|
0.00120
|
NM_003193.5(TBCE):c.585C>T (p.Ser195=)
|
rs139440109
|
0.00120
|
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys)
|
rs146799286
|
0.00120
|
NM_016169.4(SUFU):c.600C>T (p.Ile200=)
|
rs149513330
|
0.00120
|
NM_001079802.2(FKTN):c.166-4A>G
|
rs193922689
|
0.00119
|
NM_001164508.2(NEB):c.12C>T (p.Asp4=)
|
rs117178114
|
0.00119
|
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu)
|
rs377368588
|
0.00119
|
NM_004447.6(EPS8):c.1638C>T (p.Asn546=)
|
rs149455769
|
0.00119
|
NM_004530.6(MMP2):c.1858G>A (p.Val620Ile)
|
rs41459945
|
0.00119
|
NM_005677.4(COLQ):c.106+6T>C
|
rs201376373
|
0.00119
|
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)
|
rs142485035
|
0.00119
|
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile)
|
rs150861748
|
0.00119
|
NM_001017995.3(SH3PXD2B):c.698C>T (p.Thr233Ile)
|
rs149519060
|
0.00118
|
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly)
|
rs529972175
|
0.00118
|
NM_001793.6(CDH3):c.1681G>A (p.Val561Met)
|
rs151198926
|
0.00118
|
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)
|
rs143713841
|
0.00118
|
NM_004994.3(MMP9):c.1891C>A (p.Arg631Ser)
|
rs201280938
|
0.00118
|
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)
|
rs45449298
|
0.00118
|
NM_014425.5(INVS):c.2310C>T (p.His770=)
|
rs116606949
|
0.00118
|
NM_014467.3(SRPX2):c.840G>A (p.Ala280=)
|
rs139377205
|
0.00118
|
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His)
|
rs74957591
|
0.00118
|
NM_016008.4(DYNC2LI1):c.508-4G>A
|
rs201151187
|
0.00118
|
NM_018136.5(ASPM):c.7620A>G (p.Ala2540=)
|
rs147160053
|
0.00118
|
NM_033028.5(BBS4):c.208A>G (p.Ile70Val)
|
rs142692981
|
0.00118
|
NM_198253.3(TERT):c.2769G>A (p.Pro923=)
|
rs200174990
|
0.00118
|
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met)
|
rs114400765
|
0.00118
|
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=)
|
rs529594203
|
0.00117
|
NM_000293.3(PHKB):c.1459-9G>T
|
rs201995780
|
0.00117
|
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)
|
rs144873307
|
0.00117
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00117
|
NM_014028.4(OSTM1):c.143C>G (p.Ser48Trp)
|
rs201176284
|
0.00117
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
NM_017777.4(MKS1):c.261+7C>T
|
rs200156751
|
0.00117
|
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)
|
rs140179844
|
0.00117
|
NM_182914.3(SYNE2):c.15445C>T (p.Arg5149Cys)
|
rs143088941
|
0.00117
|
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)
|
rs142786231
|
0.00117
|
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)
|
rs143523271
|
0.00116
|
NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile)
|
rs114320052
|
0.00116
|
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe)
|
rs138630815
|
0.00116
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
NM_001492.6(GDF1):c.55C>G (p.Leu19Val)
|
rs370986101
|
0.00116
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)
|
rs140317560
|
0.00116
|
NM_003742.4(ABCB11):c.3548T>C (p.Ile1183Thr)
|
rs143484849
|
0.00116
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00116
|
NM_005477.3(HCN4):c.1356C>T (p.Ser452=)
|
rs148453034
|
0.00116
|
NM_006383.4(CIB2):c.231G>A (p.Ala77=)
|
rs144346527
|
0.00116
|
NM_052859.4(RFT1):c.826+7T>C
|
rs192264403
|
0.00116
|
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=)
|
rs146424389
|
0.00116
|
NM_201384.3(PLEC):c.7753G>C (p.Glu2585Gln)
|
rs200488179
|
0.00116
|
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)
|
rs201089582
|
0.00116
|
NM_000151.4(G6PC1):c.340+10C>A
|
rs368450665
|
0.00115
|
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile)
|
rs140769712
|
0.00115
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
NM_000426.4(LAMA2):c.255C>T (p.Ile85=)
|
rs142083777
|
0.00115
|
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser)
|
rs1800496
|
0.00115
|
NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser)
|
rs201794404
|
0.00115
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
NM_001365951.3(KIF1B):c.2115+6625G>A
|
rs145248590
|
0.00115
|
NM_001849.4(COL6A2):c.1970-3C>A
|
rs201879417
|
0.00115
|
NM_014140.4(SMARCAL1):c.1851+5G>A
|
rs2066514
|
0.00115
|
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu)
|
rs141715950
|
0.00115
|
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu)
|
rs200187681
|
0.00115
|
NM_001164508.2(NEB):c.17510A>G (p.Lys5837Arg)
|
rs201962649
|
0.00114
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00114
|
NM_005055.5(RAPSN):c.474C>T (p.Asp158=)
|
rs56245238
|
0.00114
|
NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys)
|
rs146325169
|
0.00114
|
NM_018136.5(ASPM):c.4436A>G (p.Lys1479Arg)
|
rs115594989
|
0.00114
|
NM_032119.4(ADGRV1):c.207+3A>G
|
rs142356935
|
0.00114
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
NM_000286.3(PEX12):c.452G>A (p.Arg151His)
|
rs150186509
|
0.00113
|
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=)
|
rs200800133
|
0.00113
|
NM_001004334.4(GPR179):c.3401G>A (p.Arg1134Gln)
|
rs112987826
|
0.00113
|
NM_001042702.5(PJVK):c.250T>A (p.Ser84Thr)
|
rs200507933
|
0.00113
|
NM_001083961.2(WDR62):c.3440A>G (p.Tyr1147Cys)
|
rs146867414
|
0.00113
|
NM_001110219.3(GJB6):c.15G>A (p.Thr5=)
|
rs150075979
|
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_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)
|
rs112217391
|
0.00113
|
NM_001378609.3(OTOGL):c.860C>T (p.Ser287Leu)
|
rs147195954
|
0.00113
|
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=)
|
rs546554430
|
0.00113
|
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu)
|
rs146256526
|
0.00113
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)
|
rs41313033
|
0.00112
|
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)
|
rs144636654
|
0.00112
|
NM_001146079.2(CLDN14):c.406G>A (p.Val136Ile)
|
rs140918123
|
0.00112
|
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)
|
rs149082597
|
0.00112
|
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala)
|
rs115333628
|
0.00112
|
NM_022081.6(HPS4):c.557C>T (p.Ser186Leu)
|
rs61729175
|
0.00112
|
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser)
|
rs76362149
|
0.00111
|
NM_001164508.2(NEB):c.5747T>C (p.Met1916Thr)
|
rs142540692
|
0.00111
|
NM_001252024.2(TRPM1):c.2953A>C (p.Met985Leu)
|
rs181499296
|
0.00111
|
NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln)
|
rs138427861
|
0.00111
|
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln)
|
rs144492145
|
0.00111
|
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)
|
rs147236883
|
0.00111
|
NM_004183.4(BEST1):c.624G>A (p.Gln208=)
|
rs150247275
|
0.00111
|
NM_018668.5(VPS33B):c.944G>A (p.Arg315Gln)
|
rs145303578
|
0.00111
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00110
|
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser)
|
rs186499459
|
0.00110
|
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=)
|
rs56402642
|
0.00110
|
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)
|
rs201255083
|
0.00110
|
NM_003896.4(ST3GAL5):c.155G>A (p.Arg52Gln)
|
rs141917910
|
0.00110
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_006941.4(SOX10):c.72C>T (p.Ser24=)
|
rs763019569
|
0.00110
|
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=)
|
rs145869401
|
0.00110
|
NM_020661.4(AICDA):c.48A>G (p.Lys16=)
|
rs186739900
|
0.00110
|
NM_133261.3(GIPC3):c.4G>A (p.Glu2Lys)
|
rs764467903
|
0.00110
|
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=)
|
rs35686213
|
0.00110
|
NM_201384.3(PLEC):c.5391C>T (p.Arg1797=)
|
rs551187778
|
0.00110
|
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=)
|
rs142483266
|
0.00109
|
NM_001164508.2(NEB):c.2283C>T (p.Ala761=)
|
rs373946448
|
0.00109
|
NM_001256317.3(TMPRSS3):c.715T>C (p.Tyr239His)
|
rs149001183
|
0.00109
|
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
|
rs72648930
|
0.00109
|
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=)
|
rs55923848
|
0.00109
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00109
|
NM_002857.4(PEX19):c.181-5C>T
|
rs199818690
|
0.00109
|
NM_012254.3(SLC27A5):c.937C>T (p.Leu313=)
|
rs143272701
|
0.00109
|
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu)
|
rs201065230
|
0.00109
|
NM_015631.6(TCTN3):c.1591-5C>T
|
rs181107730
|
0.00109
|
NM_017837.4(PIGV):c.1277C>T (p.Pro426Leu)
|
rs146969255
|
0.00109
|
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln)
|
rs138187791
|
0.00109
|
NM_000255.4(MMUT):c.393G>A (p.Gln131=)
|
rs145682249
|
0.00108
|
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile)
|
rs202106192
|
0.00108
|
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=)
|
rs370336923
|
0.00108
|
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile)
|
rs183130427
|
0.00108
|
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys)
|
rs200545007
|
0.00108
|
NM_001177316.2(SLC34A3):c.375C>T (p.Gly125=)
|
rs142873841
|
0.00108
|
NM_001189.4(NKX3-2):c.520G>C (p.Val174Leu)
|
rs559539989
|
0.00108
|
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=)
|
rs116413527
|
0.00108
|
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=)
|
rs138184483
|
0.00108
|
NM_004530.6(MMP2):c.759C>T (p.Ser253=)
|
rs148801200
|
0.00108
|
NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln)
|
rs142215888
|
0.00108
|
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=)
|
rs56198613
|
0.00108
|
NM_014780.5(CUL7):c.1067G>A (p.Arg356His)
|
rs146227929
|
0.00108
|
NM_014780.5(CUL7):c.1859C>T (p.Pro620Leu)
|
rs147326417
|
0.00108
|
NM_015426.5(POC1A):c.235G>A (p.Gly79Ser)
|
rs35249554
|
0.00108
|
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr)
|
rs144054758
|
0.00108
|
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)
|
rs34489989
|
0.00108
|
NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val)
|
rs41297069
|
0.00108
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_201384.3(PLEC):c.7101G>A (p.Thr2367=)
|
rs202132558
|
0.00108
|
NM_000327.4(ROM1):c.47G>A (p.Arg16His)
|
rs143166696
|
0.00107
|
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)
|
rs111967655
|
0.00107
|
NM_000515.5(GH1):c.15C>T (p.Ser5=)
|
rs111957225
|
0.00107
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00107
|
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)
|
rs139848756
|
0.00107
|
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)
|
rs184394424
|
0.00107
|
NM_001457.4(FLNB):c.6047G>A (p.Arg2016Gln)
|
rs137885421
|
0.00107
|
NM_006950.3(SYN1):c.1107C>T (p.Ile369=)
|
rs150248483
|
0.00107
|
NM_014780.5(CUL7):c.4659G>A (p.Glu1553=)
|
rs139243761
|
0.00107
|
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)
|
rs141828689
|
0.00107
|
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu)
|
rs200053639
|
0.00107
|
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=)
|
rs146224907
|
0.00107
|
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324
|
0.00107
|
NM_198999.3(SLC26A5):c.1944A>C (p.Gln648His)
|
rs148546326
|
0.00107
|
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr)
|
rs376665854
|
0.00107
|
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=)
|
rs140594137
|
0.00106
|
NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu)
|
rs146149224
|
0.00106
|
NM_001048166.1(STIL):c.2362G>A (p.Val788Ile)
|
rs149697952
|
0.00106
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00106
|
NM_001354712.2(THRB):c.532+8G>C
|
rs146617205
|
0.00106
|
NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=)
|
rs145750280
|
0.00106
|
NM_001458.5(FLNC):c.6998-5C>T
|
rs139030003
|
0.00106
|
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=)
|
rs138882727
|
0.00106
|
NM_001999.4(FBN2):c.4100-9G>T
|
rs377002313
|
0.00106
|
NM_003482.4(KMT2D):c.1797G>A (p.Leu599=)
|
rs113282510
|
0.00106
|
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)
|
rs111033457
|
0.00106
|
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=)
|
rs142025489
|
0.00106
|
NM_033100.4(CDHR1):c.2229G>A (p.Arg743=)
|
rs150969538
|
0.00106
|
NM_139125.4(MASP1):c.501C>G (p.Ser167=)
|
rs16861801
|
0.00106
|
NM_201253.3(CRB1):c.484G>A (p.Val162Met)
|
rs137853138
|
0.00106
|
NM_000274.4(OAT):c.969C>T (p.Tyr323=)
|
rs138895801
|
0.00105
|
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=)
|
rs371914255
|
0.00105
|
NM_000784.4(CYP27A1):c.646+4C>T
|
rs191313794
|
0.00105
|
NM_001039141.3(TRIOBP):c.3068C>T (p.Ala1023Val)
|
rs201681832
|
0.00105
|
NM_001112704.2(VAX1):c.642G>A (p.Leu214=)
|
rs554140675
|
0.00105
|
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)
|
rs141818764
|
0.00105
|
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met)
|
rs145956175
|
0.00105
|
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn)
|
rs146170855
|
0.00105
|
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=)
|
rs147918962
|
0.00105
|
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala)
|
rs143558324
|
0.00105
|
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys)
|
rs189255177
|
0.00105
|
NM_020436.5(SALL4):c.1287T>G (p.Phe429Leu)
|
rs143818932
|
0.00105
|
NM_201384.3(PLEC):c.2844C>T (p.Pro948=)
|
rs200482255
|
0.00105
|
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=)
|
rs111939130
|
0.00105
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00104
|
NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=)
|
rs34161326
|
0.00104
|
NM_001927.4(DES):c.18G>A (p.Ser6=)
|
rs199972656
|
0.00104
|
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)
|
rs140743238
|
0.00104
|
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser)
|
rs115259839
|
0.00104
|
NM_014908.4(DOLK):c.700A>G (p.Met234Val)
|
rs139787271
|
0.00104
|
NM_014989.7(RIMS1):c.2699-8T>C
|
rs149883454
|
0.00104
|
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=)
|
rs150955045
|
0.00104
|
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)
|
rs41305898
|
0.00104
|
NM_138638.5(CFL2):c.21G>A (p.Val7=)
|
rs149700171
|
0.00104
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00104
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00104
|
NM_000392.5(ABCC2):c.3614+6G>C
|
rs17222716
|
0.00103
|
NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His)
|
rs144717803
|
0.00103
|
NM_001039141.3(TRIOBP):c.2811C>T (p.Ile937=)
|
rs115800799
|
0.00103
|
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)
|
rs139944375
|
0.00103
|
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)
|
rs200466720
|
0.00103
|
NM_004839.4(HOMER2):c.643C>T (p.Arg215Cys)
|
rs199835958
|
0.00103
|
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)
|
rs145687082
|
0.00103
|
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln)
|
rs145415033
|
0.00103
|
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)
|
rs117390537
|
0.00103
|
NM_022041.4(GAN):c.1162C>T (p.Leu388=)
|
rs73589395
|
0.00103
|
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu)
|
rs201889290
|
0.00103
|
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)
|
rs145565705
|
0.00103
|
NM_133642.5(LARGE1):c.408+8G>A
|
rs141818070
|
0.00103
|
NM_205850.3(SLC24A5):c.1442T>C (p.Leu481Ser)
|
rs146726548
|
0.00103
|
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)
|
rs139361545
|
0.00102
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00102
|
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=)
|
rs76048624
|
0.00102
|
NM_001189.4(NKX3-2):c.148T>G (p.Cys50Gly)
|
rs371597026
|
0.00102
|
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)
|
rs55634791
|
0.00102
|
NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly)
|
rs150637771
|
0.00102
|
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=)
|
rs78484531
|
0.00102
|
NM_005609.4(PYGM):c.999+20C>T
|
rs201711087
|
0.00102
|
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu)
|
rs76591348
|
0.00102
|
NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser)
|
rs41297065
|
0.00102
|
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=)
|
rs137925439
|
0.00102
|
NM_173477.5(USH1G):c.715A>C (p.Lys239Gln)
|
rs147967199
|
0.00102
|
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln)
|
rs148008634
|
0.00102
|
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)
|
rs140895792
|
0.00102
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_000231.3(SGCG):c.539A>T (p.Glu180Val)
|
rs114160429
|
0.00101
|
NM_000286.3(PEX12):c.722G>T (p.Gly241Val)
|
rs139417458
|
0.00101
|
NM_000478.6(ALPL):c.818C>T (p.Thr273Met)
|
rs148405563
|
0.00101
|
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)
|
rs74162102
|
0.00101
|
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
|
rs146504767
|
0.00101
|
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys)
|
rs61739911
|
0.00101
|
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=)
|
rs150266932
|
0.00101
|
NM_001353108.3(CEP63):c.905C>G (p.Thr302Ser)
|
rs142766824
|
0.00101
|
NM_001379286.1(ZNF423):c.807C>T (p.Asp269=)
|
rs145503941
|
0.00101
|
NM_001849.4(COL6A2):c.492C>T (p.His164=)
|
rs140929054
|
0.00101
|
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met)
|
rs141556170
|
0.00101
|
NM_003630.3(PEX3):c.578+8A>G
|
rs200807211
|
0.00101
|
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=)
|
rs192375476
|
0.00101
|
NM_006279.5(ST3GAL3):c.118+10G>C
|
rs147330005
|
0.00101
|
NM_006343.3(MERTK):c.960+9C>A
|
rs373198570
|
0.00101
|
NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile)
|
rs146772848
|
0.00101
|
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)
|
rs200866893
|
0.00101
|
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=)
|
rs151142538
|
0.00101
|
NM_020975.6(RET):c.1157C>T (p.Ala386Val)
|
rs115272158
|
0.00101
|
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)
|
rs142857685
|
0.00101
|
NM_130468.4(CHST14):c.807T>C (p.Asp269=)
|
rs139229738
|
0.00101
|
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)
|
rs145886657
|
0.00101
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser)
|
rs141721173
|
0.00100
|
NM_004625.4(WNT7A):c.213C>T (p.Asp71=)
|
rs75651130
|
0.00100
|
NM_014780.5(CUL7):c.136C>T (p.Arg46Trp)
|
rs141692693
|
0.00100
|
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)
|
rs143301610
|
0.00100
|
NM_182914.3(SYNE2):c.3235A>G (p.Thr1079Ala)
|
rs192128801
|
0.00100
|
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=)
|
rs140136749
|
0.00100
|
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)
|
rs144436610
|
0.00100
|
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp)
|
rs148153079
|
0.00100
|
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met)
|
rs35090700
|
0.00099
|
NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg)
|
rs185613200
|
0.00099
|
NM_001849.4(COL6A2):c.2751G>T (p.Val917=)
|
rs111341650
|
0.00099
|
NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His)
|
rs141243126
|
0.00099
|
NM_004393.6(DAG1):c.278T>C (p.Ile93Thr)
|
rs149218670
|
0.00099
|
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys)
|
rs34754243
|
0.00099
|
NM_025132.4(WDR19):c.2715G>A (p.Lys905=)
|
rs200339331
|
0.00099
|
NM_139125.4(MASP1):c.1125C>T (p.His375=)
|
rs34207306
|
0.00099
|
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu)
|
rs138514054
|
0.00099
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00098
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)
|
rs56091799
|
0.00098
|
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=)
|
rs143011005
|
0.00098
|
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg)
|
rs184866544
|
0.00098
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala)
|
rs144217005
|
0.00098
|
NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile)
|
rs147358733
|
0.00098
|
NM_001849.4(COL6A2):c.115+6del
|
rs578127995
|
0.00098
|
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)
|
rs144884147
|
0.00098
|
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp)
|
rs61742871
|
0.00098
|
NM_002335.4(LRP5):c.3990G>A (p.Ala1330=)
|
rs147637431
|
0.00098
|
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His)
|
rs35339834
|
0.00098
|
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=)
|
rs11568360
|
0.00098
|
NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu)
|
rs56099091
|
0.00098
|
NM_005045.4(RELN):c.474-7T>C
|
rs55693709
|
0.00098
|
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val)
|
rs362800
|
0.00098
|
NM_005045.4(RELN):c.6141C>T (p.Phe2047=)
|
rs79161241
|
0.00098
|
NM_014780.5(CUL7):c.2115C>T (p.His705=)
|
rs143128153
|
0.00098
|
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg)
|
rs112206586
|
0.00098
|
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr)
|
rs142653982
|
0.00098
|
NM_025114.4(CEP290):c.1716A>G (p.Leu572=)
|
rs372349042
|
0.00098
|
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=)
|
rs144216539
|
0.00098
|
NM_173660.5(DOK7):c.331+9C>T
|
rs370879328
|
0.00098
|
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe)
|
rs138039375
|
0.00098
|
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln)
|
rs145019640
|
0.00098
|
NM_000209.4(PDX1):c.543C>T (p.Val181=)
|
rs75498935
|
0.00097
|
NM_000543.5(SMPD1):c.762G>A (p.Leu254=)
|
rs143939609
|
0.00097
|
NM_001039348.3(EFEMP1):c.146A>C (p.Asp49Ala)
|
rs55849640
|
0.00097
|
NM_001128228.3(TPRN):c.655C>A (p.Arg219Ser)
|
rs559890679
|
0.00097
|
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=)
|
rs147840220
|
0.00097
|
NM_001364905.1(LRBA):c.1713C>T (p.His571=)
|
rs145812385
|
0.00097
|
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)
|
rs138392504
|
0.00097
|
NM_002335.4(LRP5):c.4195G>A (p.Val1399Ile)
|
rs113315676
|
0.00097
|
NM_002691.4(POLD1):c.3054G>A (p.Val1018=)
|
rs369613619
|
0.00097
|
NM_003036.4(SKI):c.798C>T (p.Ala266=)
|
rs149642284
|
0.00097
|
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp)
|
rs147653673
|
0.00097
|
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=)
|
rs145109914
|
0.00097
|
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys)
|
rs78215018
|
0.00097
|
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val)
|
rs146636139
|
0.00097
|
NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly)
|
rs148689951
|
0.00097
|
NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys)
|
rs199843296
|
0.00097
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00096
|
NM_000452.3(SLC10A2):c.108G>A (p.Thr36=)
|
rs141524545
|
0.00096
|
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)
|
rs56394008
|
0.00096
|
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=)
|
rs138680809
|
0.00096
|
NM_001083961.2(WDR62):c.2211-4G>A
|
rs202109439
|
0.00096
|
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser)
|
rs201707021
|
0.00096
|
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=)
|
rs146402942
|
0.00096
|
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)
|
rs111727915
|
0.00096
|
NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=)
|
rs111674454
|
0.00096
|
NM_001457.4(FLNB):c.808A>G (p.Met270Val)
|
rs145036794
|
0.00096
|
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser)
|
rs139401633
|
0.00096
|
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=)
|
rs147247206
|
0.00096
|
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=)
|
rs139926138
|
0.00096
|
NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=)
|
rs141456140
|
0.00096
|
NM_015295.3(SMCHD1):c.5878+8T>G
|
rs144115061
|
0.00096
|
NM_015909.4(NBAS):c.4228A>G (p.Thr1410Ala)
|
rs143724414
|
0.00096
|
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly)
|
rs188098974
|
0.00096
|
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr)
|
rs113005049
|
0.00096
|
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)
|
rs141528309
|
0.00096
|
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=)
|
rs150573530
|
0.00096
|
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys)
|
rs144435836
|
0.00096
|
NM_000027.4(AGA):c.762C>T (p.Ala254=)
|
rs145465919
|
0.00095
|
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=)
|
rs61749678
|
0.00095
|
NM_000260.4(MYO7A):c.*8C>T
|
rs370206645
|
0.00095
|
NM_000306.4(POU1F1):c.252C>T (p.His84=)
|
rs4988460
|
0.00095
|
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=)
|
rs547740249
|
0.00095
|
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met)
|
rs111250264
|
0.00095
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
NM_001318510.2(ACSL4):c.806+3A>G
|
rs183171123
|
0.00095
|
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)
|
rs56355310
|
0.00095
|
NM_001966.4(EHHADH):c.983C>T (p.Ser328Leu)
|
rs144464757
|
0.00095
|
NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile)
|
rs140191063
|
0.00095
|
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys)
|
rs41299625
|
0.00095
|
NM_018965.4(TREM2):c.399G>T (p.Leu133=)
|
rs144250872
|
0.00095
|
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=)
|
rs142126065
|
0.00095
|
NM_031448.6(C19orf12):c.313G>A (p.Val105Met)
|
rs146492790
|
0.00095
|
NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr)
|
rs114237522
|
0.00095
|
NM_000452.3(SLC10A2):c.1038C>T (p.Asp346=)
|
rs147498129
|
0.00094
|
NM_000452.3(SLC10A2):c.194C>T (p.Pro65Leu)
|
rs112657170
|
0.00094
|
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu)
|
rs147950418
|
0.00094
|
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)
|
rs138853909
|
0.00094
|
NM_004836.7(EIF2AK3):c.112G>A (p.Ala38Thr)
|
rs886042833
|
0.00094
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
NM_016616.5(NME8):c.610A>G (p.Ile204Val)
|
rs146777129
|
0.00094
|
NM_018668.5(VPS33B):c.1274G>A (p.Ser425Asn)
|
rs139709507
|
0.00094
|
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=)
|
rs370580872
|
0.00094
|
NM_022437.3(ABCG8):c.1941C>G (p.Val647=)
|
rs147991100
|
0.00094
|
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp)
|
rs146515622
|
0.00094
|
NM_198129.4(LAMA3):c.8829G>A (p.Arg2943=)
|
rs141472847
|
0.00094
|
NM_000016.6(ACADM):c.994C>T (p.Leu332=)
|
rs138098371
|
0.00093
|
NM_000193.4(SHH):c.876G>A (p.Gly292=)
|
rs112055654
|
0.00093
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00093
|
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu)
|
rs61732159
|
0.00093
|
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe)
|
rs139059149
|
0.00093
|
NM_000719.7(CACNA1C):c.3049-10C>T
|
rs186741807
|
0.00093
|
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)
|
rs142404822
|
0.00093
|
NM_001165967.2(HES7):c.420G>A (p.Pro140=)
|
rs200833034
|
0.00093
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00093
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
NM_001360016.2(G6PD):c.1458-13C>G
|
rs371772243
|
0.00093
|
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp)
|
rs143502850
|
0.00093
|
NM_002968.3(SALL1):c.411C>T (p.Ser137=)
|
rs151051011
|
0.00093
|
NM_005529.7(HSPG2):c.10512C>T (p.His3504=)
|
rs55875654
|
0.00093
|
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser)
|
rs151047156
|
0.00093
|
NM_020812.4(DOCK6):c.5582G>A (p.Arg1861His)
|
rs115035890
|
0.00093
|
NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg)
|
rs145319149
|
0.00093
|
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)
|
rs146789444
|
0.00093
|
NM_194248.3(OTOF):c.1530C>T (p.Ile510=)
|
rs150452778
|
0.00093
|
NM_198576.4(AGRN):c.2013C>T (p.Ser671=)
|
rs141603403
|
0.00093
|
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)
|
rs35224686
|
0.00092
|
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=)
|
rs188655353
|
0.00092
|
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr)
|
rs113452150
|
0.00092
|
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile)
|
rs148164929
|
0.00092
|
NM_001365536.1(SCN9A):c.1326G>A (p.Ala442=)
|
rs200065104
|
0.00092
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
NM_003673.4(TCAP):c.353C>T (p.Ala118Val)
|
rs143233087
|
0.00092
|
NM_003742.4(ABCB11):c.408C>T (p.Ser136=)
|
rs183214630
|
0.00092
|
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=)
|
rs116066149
|
0.00092
|
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val)
|
rs150610444
|
0.00092
|
NM_004565.3(PEX14):c.267C>G (p.Val89=)
|
rs146359055
|
0.00092
|
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn)
|
rs144875383
|
0.00092
|
NM_012469.4(PRPF6):c.891C>T (p.Leu297=)
|
rs41278234
|
0.00092
|
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)
|
rs138481453
|
0.00092
|
NM_014251.3(SLC25A13):c.1311+3A>G
|
rs180844972
|
0.00092
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg)
|
rs148134252
|
0.00092
|
NM_057176.3(BSND):c.527G>A (p.Arg176His)
|
rs143711308
|
0.00092
|
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=)
|
rs146552975
|
0.00092
|
NM_181882.3(PRX):c.3110A>G (p.Glu1037Gly)
|
rs148600818
|
0.00092
|
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=)
|
rs141028210
|
0.00092
|
NM_201548.5(CERKL):c.735G>C (p.Leu245=)
|
rs140898616
|
0.00092
|
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly)
|
rs146892520
|
0.00092
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
NM_000426.4(LAMA2):c.1782+10C>T
|
rs200030296
|
0.00091
|
NM_000553.6(WRN):c.107G>A (p.Arg36Gln)
|
rs34084741
|
0.00091
|
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)
|
rs146932786
|
0.00091
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
NM_001377.3(DYNC2H1):c.12643A>C (p.Ile4215Leu)
|
rs142920070
|
0.00091
|
NM_001849.4(COL6A2):c.288C>T (p.Tyr96=)
|
rs61735833
|
0.00091
|
NM_002617.4(PEX10):c.601-27A>G
|
rs144264865
|
0.00091
|
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)
|
rs61736727
|
0.00091
|
NM_004393.6(DAG1):c.2082C>T (p.Asn694=)
|
rs146453412
|
0.00091
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His)
|
rs139664153
|
0.00091
|
NM_005045.4(RELN):c.1001G>A (p.Arg334His)
|
rs146922726
|
0.00091
|
NM_005045.4(RELN):c.577+7G>T
|
rs188372756
|
0.00091
|
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)
|
rs61754107
|
0.00091
|
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln)
|
rs149227847
|
0.00091
|
NM_182914.3(SYNE2):c.20161G>A (p.Ala6721Thr)
|
rs140897155
|
0.00091
|
NM_182961.4(SYNE1):c.6826-6A>G
|
rs183683592
|
0.00091
|
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys)
|
rs139954767
|
0.00091
|
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=)
|
rs111033366
|
0.00091
|
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=)
|
rs144242254
|
0.00091
|
NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr)
|
rs35140429
|
0.00090
|
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=)
|
rs376078394
|
0.00090
|
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys)
|
rs148104494
|
0.00090
|
NM_003322.6(TULP1):c.366G>T (p.Glu122Asp)
|
rs113772629
|
0.00090
|
NM_003630.3(PEX3):c.165A>G (p.Gln55=)
|
rs41285015
|
0.00090
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)
|
rs147506904
|
0.00090
|
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=)
|
rs148848282
|
0.00090
|
NM_020812.4(DOCK6):c.2594G>A (p.Arg865His)
|
rs199922090
|
0.00090
|
NM_147127.5(EVC2):c.2244C>T (p.Thr748=)
|
rs146588335
|
0.00090
|
NM_207361.6(FREM2):c.2367G>A (p.Pro789=)
|
rs140101984
|
0.00090
|
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)
|
rs143214563
|
0.00089
|
NM_000082.4(ERCC8):c.66G>A (p.Glu22=)
|
rs149130938
|
0.00089
|
NM_000214.3(JAG1):c.2778C>T (p.Phe926=)
|
rs147793030
|
0.00089
|
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)
|
rs1800548
|
0.00089
|
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser)
|
rs147870525
|
0.00089
|
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)
|
rs142063328
|
0.00089
|
NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys)
|
rs139997243
|
0.00089
|
NM_001235.5(SERPINH1):c.92G>C (p.Gly31Ala)
|
rs140588417
|
0.00089
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
NM_001395413.1(POR):c.678C>T (p.Ala226=)
|
rs72557906
|
0.00089
|
NM_003119.4(SPG7):c.1083G>A (p.Ala361=)
|
rs114135540
|
0.00089
|
NM_006907.4(PYCR1):c.465C>T (p.Ser155=)
|
rs149683289
|
0.00089
|
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)
|
rs149260051
|
0.00089
|
NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly)
|
rs187648086
|
0.00089
|
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu)
|
rs199989979
|
0.00088
|
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=)
|
rs144813907
|
0.00088
|
NM_001008388.5(CISD2):c.12G>A (p.Glu4=)
|
rs145312923
|
0.00088
|
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)
|
rs140553130
|
0.00088
|
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)
|
rs121908242
|
0.00088
|
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)
|
rs140469160
|
0.00088
|
NM_001292063.2(OTOG):c.2868-3C>T
|
rs565665118
|
0.00088
|
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=)
|
rs199653503
|
0.00088
|
NM_001369268.1(ACAN):c.7092G>A (p.Lys2364=)
|
rs368979713
|
0.00088
|
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile)
|
rs150555123
|
0.00088
|
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg)
|
rs563818052
|
0.00088
|
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)
|
rs141911199
|
0.00088
|
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu)
|
rs373605761
|
0.00088
|
NM_004530.6(MMP2):c.1233G>A (p.Leu411=)
|
rs140172728
|
0.00088
|
NM_005413.4(SIX3):c.369G>A (p.Glu123=)
|
rs200331042
|
0.00088
|
NM_006019.4(TCIRG1):c.197-5C>T
|
rs183885218
|
0.00088
|
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg)
|
rs149623054
|
0.00088
|
NM_006929.5(SKIC2):c.3470C>T (p.Thr1157Met)
|
rs201764098
|
0.00088
|
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)
|
rs150508296
|
0.00088
|
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)
|
rs150981983
|
0.00088
|
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=)
|
rs564053026
|
0.00088
|
NM_020066.5(FMN2):c.2572C>A (p.Pro858Thr)
|
rs140315493
|
0.00088
|
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=)
|
rs369983077
|
0.00088
|
NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala)
|
rs114404835
|
0.00088
|
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=)
|
rs144257298
|
0.00088
|
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu)
|
rs149806390
|
0.00088
|
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)
|
rs41308297
|
0.00088
|
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser)
|
rs150395094
|
0.00088
|
NM_033337.3(CAV3):c.40G>A (p.Val14Ile)
|
rs121909281
|
0.00088
|
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=)
|
rs145960781
|
0.00088
|
NM_153603.4(COG7):c.850A>T (p.Ile284Phe)
|
rs115605801
|
0.00088
|
NM_170707.4(LMNA):c.640-52C>T
|
rs41314033
|
0.00088
|
NM_201525.4(ADGRG1):c.243C>T (p.Phe81=)
|
rs58068378
|
0.00088
|
NM_000208.4(INSR):c.959C>T (p.Thr320Met)
|
rs138528064
|
0.00087
|
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)
|
rs193922380
|
0.00087
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_001128225.3(SLC39A13):c.646-7T>C
|
rs140597965
|
0.00087
|
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)
|
rs72650034
|
0.00087
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His)
|
rs189248390
|
0.00087
|
NM_001379180.1(ESRRB):c.*1546C>T
|
rs201448899
|
0.00087
|
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)
|
rs145520487
|
0.00087
|
NM_001849.4(COL6A2):c.568G>A (p.Val190Met)
|
rs150877061
|
0.00087
|
NM_014425.5(INVS):c.1945G>A (p.Val649Met)
|
rs115042730
|
0.00087
|
NM_014874.4(MFN2):c.1641C>T (p.Leu547=)
|
rs140924661
|
0.00087
|
NM_015102.5(NPHP4):c.2940G>A (p.Thr980=)
|
rs146948888
|
0.00087
|
NM_022124.6(CDH23):c.4488+7C>T
|
rs374215303
|
0.00087
|
NM_032119.4(ADGRV1):c.9447+6G>A
|
rs201481219
|
0.00087
|
NM_178857.6(RP1L1):c.652G>T (p.Val218Leu)
|
rs77679870
|
0.00087
|
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=)
|
rs148240825
|
0.00087
|
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)
|
rs35885472
|
0.00086
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00086
|
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val)
|
rs148709148
|
0.00086
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
NM_000426.4(LAMA2):c.6697G>A (p.Val2233Ile)
|
rs150945378
|
0.00086
|
NM_000492.4(CFTR):c.4243-20A>G
|
rs138025486
|
0.00086
|
NM_000875.5(IGF1R):c.1956T>G (p.Pro652=)
|
rs45598332
|
0.00086
|
NM_001003722.2(GLE1):c.823G>A (p.Asp275Asn)
|
rs146800850
|
0.00086
|
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)
|
rs201437752
|
0.00086
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00086
|
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr)
|
rs147044066
|
0.00086
|
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)
|
rs183130583
|
0.00086
|
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser)
|
rs151234321
|
0.00086
|
NM_002335.4(LRP5):c.263A>G (p.Lys88Arg)
|
rs78219242
|
0.00086
|
NM_002546.4(TNFRSF11B):c.234C>T (p.Asp78=)
|
rs144654126
|
0.00086
|
NM_004560.4(ROR2):c.2461G>A (p.Val821Ile)
|
rs149056068
|
0.00086
|
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe)
|
rs140729669
|
0.00086
|
NM_006514.4(SCN10A):c.3859G>A (p.Val1287Ile)
|
rs145032037
|
0.00086
|
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His)
|
rs73464271
|
0.00086
|
NM_014918.5(CHSY1):c.21C>T (p.Arg7=)
|
rs751409111
|
0.00086
|
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)
|
rs104894680
|
0.00086
|
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)
|
rs148634904
|
0.00086
|
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu)
|
rs199861426
|
0.00086
|
NM_031885.5(BBS2):c.1380C>T (p.Phe460=)
|
rs141046144
|
0.00086
|
NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys)
|
rs183851734
|
0.00086
|
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys)
|
rs188772875
|
0.00086
|
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly)
|
rs149005052
|
0.00086
|
NM_201384.3(PLEC):c.2775C>T (p.Ala925=)
|
rs201202488
|
0.00086
|
NM_000026.4(ADSL):c.895A>G (p.Met299Val)
|
rs34396910
|
0.00085
|
NM_000151.4(G6PC1):c.562+10G>A
|
rs199505156
|
0.00085
|
NM_000208.4(INSR):c.2970G>A (p.Pro990=)
|
rs41304772
|
0.00085
|
NM_000426.4(LAMA2):c.9211+6T>C
|
rs201375881
|
0.00085
|
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=)
|
rs143782439
|
0.00085
|
NM_001048166.1(STIL):c.2906A>G (p.His969Arg)
|
rs148193936
|
0.00085
|
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile)
|
rs150887098
|
0.00085
|
NM_001853.4(COL9A3):c.1242C>T (p.Pro414=)
|
rs150153886
|
0.00085
|
NM_001927.4(DES):c.935A>C (p.Asp312Ala)
|
rs148947510
|
0.00085
|
NM_003742.4(ABCB11):c.174C>T (p.Asp58=)
|
rs11568362
|
0.00085
|
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)
|
rs142349647
|
0.00085
|
NM_018249.6(CDK5RAP2):c.1218G>A (p.Gln406=)
|
rs61758368
|
0.00085
|
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041
|
0.00085
|
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro)
|
rs557830930
|
0.00085
|
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys)
|
rs61760166
|
0.00084
|
NM_000208.4(INSR):c.190T>C (p.Leu64=)
|
rs144836032
|
0.00084
|
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)
|
rs144562730
|
0.00084
|
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg)
|
rs142381554
|
0.00084
|
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys)
|
rs142244640
|
0.00084
|
NM_000466.3(PEX1):c.2926+8T>C
|
rs369877998
|
0.00084
|
NM_000548.5(TSC2):c.1860G>A (p.Leu620=)
|
rs45492397
|
0.00084
|
NM_001031679.3(MSRB3):c.76+7G>T
|
rs199896714
|
0.00084
|
NM_001083961.2(WDR62):c.2381C>G (p.Pro794Arg)
|
rs149431376
|
0.00084
|
NM_001127649.3(PEX26):c.497G>A (p.Arg166Gln)
|
rs34194489
|
0.00084
|
NM_001193315.2(VIPAS39):c.1460C>T (p.Ser487Leu)
|
rs140365206
|
0.00084
|
NM_001193315.2(VIPAS39):c.972C>T (p.Arg324=)
|
rs147303718
|
0.00084
|
NM_001200.4(BMP2):c.561C>T (p.Pro187=)
|
rs149465465
|
0.00084
|
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)
|
rs149763294
|
0.00084
|
NM_001291303.3(FAT4):c.7231A>T (p.Thr2411Ser)
|
rs147297895
|
0.00084
|
NM_001379081.2(FREM1):c.5622G>C (p.Trp1874Cys)
|
rs61745612
|
0.00084
|
NM_001379286.1(ZNF423):c.819C>T (p.Cys273=)
|
rs201499268
|
0.00084
|
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=)
|
rs34966542
|
0.00084
|
NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser)
|
rs201418838
|
0.00084
|
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)
|
rs147399860
|
0.00084
|
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys)
|
rs34081806
|
0.00084
|
NM_014324.6(AMACR):c.554T>C (p.Val185Ala)
|
rs145786819
|
0.00084
|
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val)
|
rs372615343
|
0.00084
|
NM_022726.4(ELOVL4):c.931G>A (p.Ala311Thr)
|
rs189898207
|
0.00084
|
NM_054012.4(ASS1):c.1134C>T (p.Asn378=)
|
rs140715869
|
0.00084
|
NM_201384.3(PLEC):c.10656G>A (p.Val3552=)
|
rs368312695
|
0.00084
|
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)
|
rs140080678
|
0.00084
|
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu)
|
rs139804851
|
0.00084
|
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
NM_001145809.2(MYH14):c.615G>A (p.Thr205=)
|
rs199921330
|
0.00083
|
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)
|
rs200459347
|
0.00083
|
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)
|
rs371719028
|
0.00083
|
NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu)
|
rs114108462
|
0.00083
|
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=)
|
rs200182626
|
0.00083
|
NM_001966.4(EHHADH):c.1804C>T (p.Arg602Trp)
|
rs148208284
|
0.00083
|
NM_001966.4(EHHADH):c.2094A>G (p.Leu698=)
|
rs370130327
|
0.00083
|
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys)
|
rs115031549
|
0.00083
|
NM_004565.3(PEX14):c.602A>G (p.Asn201Ser)
|
rs142285791
|
0.00083
|
NM_005529.7(HSPG2):c.8941G>A (p.Val2981Ile)
|
rs2229490
|
0.00083
|
NM_006005.3(WFS1):c.2195G>A (p.Arg732His)
|
rs149013740
|
0.00083
|
NM_006086.4(TUBB3):c.921C>T (p.His307=)
|
rs147283850
|
0.00083
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro)
|
rs146970674
|
0.00083
|
NM_019066.5(MAGEL2):c.3690G>C (p.Glu1230Asp)
|
rs34875116
|
0.00083
|
NM_021939.4(FKBP10):c.174A>G (p.Glu58=)
|
rs150052125
|
0.00083
|
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=)
|
rs148021416
|
0.00083
|
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)
|
rs202064612
|
0.00083
|
NM_205850.3(SLC24A5):c.347C>G (p.Ala116Gly)
|
rs150379789
|
0.00083
|
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)
|
rs146651049
|
0.00082
|
NM_000092.5(COL4A4):c.195T>C (p.Gly65=)
|
rs201278620
|
0.00082
|
NM_000326.5(RLBP1):c.303C>T (p.Arg101=)
|
rs144254383
|
0.00082
|
NM_000426.4(LAMA2):c.7440-9G>A
|
rs369558532
|
0.00082
|
NM_000452.3(SLC10A2):c.425C>T (p.Pro142Leu)
|
rs117447044
|
0.00082
|
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro)
|
rs116349687
|
0.00082
|
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)
|
rs45486193
|
0.00082
|
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=)
|
rs72647541
|
0.00082
|
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)
|
rs138654170
|
0.00082
|
NM_001256789.3(CACNA1F):c.2764G>A (p.Gly922Ser)
|
rs149685267
|
0.00082
|
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00082
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00082
|
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)
|
rs72648238
|
0.00082
|
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met)
|
rs150907698
|
0.00082
|
NM_004484.4(GPC3):c.826G>A (p.Gly276Ser)
|
rs141100113
|
0.00082
|
NM_004836.7(EIF2AK3):c.3153C>T (p.Tyr1051=)
|
rs56120877
|
0.00082
|
NM_005802.5(TOPORS):c.2547A>G (p.Ser849=)
|
rs150650712
|
0.00082
|
NM_012448.4(STAT5B):c.429G>C (p.Gln143His)
|
rs148793995
|
0.00082
|
NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu)
|
rs58625281
|
0.00082
|
NM_020451.3(SELENON):c.1596C>T (p.Gly532=)
|
rs149623434
|
0.00082
|
NM_021101.5(CLDN1):c.195A>G (p.Lys65=)
|
rs145197251
|
0.00082
|
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser)
|
rs149296737
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_000126.4(ETFA):c.6C>T (p.Phe2=)
|
rs749929239
|
0.00081
|
NM_000193.4(SHH):c.1181G>A (p.Arg394His)
|
rs551809680
|
0.00081
|
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
|
rs147707463
|
0.00081
|
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)
|
rs111606207
|
0.00081
|
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)
|
rs183245562
|
0.00081
|
NM_001365536.1(SCN9A):c.3403C>T (p.Pro1135Ser)
|
rs184563685
|
0.00081
|
NM_001367721.1(CASK):c.2317+9T>C
|
rs5964007
|
0.00081
|
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)
|
rs145017164
|
0.00081
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu)
|
rs139258361
|
0.00081
|
NM_004568.6(SERPINB6):c.100A>G (p.Met34Val)
|
rs145538358
|
0.00081
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
0.00081
|
NM_006946.4(SPTBN2):c.157+5G>A
|
rs150159444
|
0.00081
|
NM_012210.4(TRIM32):c.6T>G (p.Ala2=)
|
rs141352486
|
0.00081
|
NM_012301.4(MAGI2):c.2454C>T (p.Arg818=)
|
rs148580718
|
0.00081
|
NM_015102.5(NPHP4):c.1867A>G (p.Thr623Ala)
|
rs35959882
|
0.00081
|
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala)
|
rs145758265
|
0.00081
|
NM_170699.3(GPBAR1):c.189C>T (p.Leu63=)
|
rs111925653
|
0.00081
|
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn)
|
rs149362446
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_000404.4(GLB1):c.1426C>T (p.Leu476=)
|
rs113534264
|
0.00080
|
NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr)
|
rs115650537
|
0.00080
|
NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile)
|
rs139790668
|
0.00080
|
NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg)
|
rs114286628
|
0.00080
|
NM_001378615.1(CC2D2A):c.1017+7G>A
|
rs137919504
|
0.00080
|
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr)
|
rs140736502
|
0.00080
|
NM_001848.3(COL6A1):c.996C>T (p.Gly332=)
|
rs11702055
|
0.00080
|
NM_003049.4(SLC10A1):c.702T>G (p.Phe234Leu)
|
rs139931299
|
0.00080
|
NM_004565.3(PEX14):c.29C>G (p.Pro10Arg)
|
rs12068754
|
0.00080
|
NM_012418.4(FSCN2):c.492C>T (p.Asp164=)
|
rs370382419
|
0.00080
|
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys)
|
rs116833707
|
0.00080
|
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile)
|
rs202110635
|
0.00080
|
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=)
|
rs371831553
|
0.00080
|
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser)
|
rs150549897
|
0.00080
|
NM_052989.3(IFT122):c.1026C>T (p.Asp342=)
|
rs79187669
|
0.00080
|
NM_153676.4(USH1C):c.2443C>T (p.Leu815=)
|
rs148477093
|
0.00080
|
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)
|
rs139897506
|
0.00080
|
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys)
|
rs144018942
|
0.00080
|
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=)
|
rs137919524
|
0.00080
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00080
|
NM_201384.3(PLEC):c.2478C>T (p.Asp826=)
|
rs202135215
|
0.00080
|
NM_206933.4(USH2A):c.8559-7G>A
|
rs199618999
|
0.00080
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
NM_000124.4(ERCC6):c.3719G>T (p.Ser1240Ile)
|
rs142219494
|
0.00079
|
NM_000540.3(RYR1):c.10119G>A (p.Val3373=)
|
rs140689610
|
0.00079
|
NM_001004334.4(GPR179):c.5982C>T (p.Ala1994=)
|
rs185715311
|
0.00079
|
NM_001039141.3(TRIOBP):c.3309C>T (p.His1103=)
|
rs199594270
|
0.00079
|
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=)
|
rs147497014
|
0.00079
|
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)
|
rs56130023
|
0.00079
|
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=)
|
rs187180708
|
0.00079
|
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu)
|
rs142585703
|
0.00079
|
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile)
|
rs189100009
|
0.00079
|
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=)
|
rs375131519
|
0.00079
|
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys)
|
rs201905890
|
0.00079
|
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala)
|
rs202176764
|
0.00079
|
NM_003036.4(SKI):c.216C>T (p.Pro72=)
|
rs756778048
|
0.00079
|
NM_012254.3(SLC27A5):c.934G>A (p.Val312Ile)
|
rs146682651
|
0.00079
|
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala)
|
rs200532919
|
0.00079
|
NM_017777.4(MKS1):c.27C>T (p.Asp9=)
|
rs369488349
|
0.00079
|
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=)
|
rs56174879
|
0.00079
|
NM_025132.4(WDR19):c.2364-3del
|
rs757992911
|
0.00079
|
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile)
|
rs113536228
|
0.00079
|
NM_207361.6(FREM2):c.177T>C (p.Gly59=)
|
rs370018440
|
0.00079
|
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)
|
rs373081328
|
0.00078
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00078
|
NM_000159.4(GCDH):c.471C>T (p.Ser157=)
|
rs146682905
|
0.00078
|
NM_000163.5(GHR):c.686G>A (p.Arg229His)
|
rs6177
|
0.00078
|
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=)
|
rs117400594
|
0.00078
|
NM_001164508.2(NEB):c.10434T>C (p.Asn3478=)
|
rs375543045
|
0.00078
|
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys)
|
rs150098077
|
0.00078
|
NM_002857.4(PEX19):c.564G>A (p.Leu188=)
|
rs149058086
|
0.00078
|
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val)
|
rs140954748
|
0.00078
|
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=)
|
rs35575973
|
0.00078
|
NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr)
|
rs143218310
|
0.00078
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_170699.3(GPBAR1):c.701G>T (p.Gly234Val)
|
rs201017530
|
0.00078
|
NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val)
|
rs149200446
|
0.00077
|
NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu)
|
rs139460397
|
0.00077
|
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=)
|
rs45602336
|
0.00077
|
NM_001164508.2(NEB):c.1258-7C>G
|
rs371265681
|
0.00077
|
NM_001384910.1(GUCA1A):c.152C>T (p.Ser51Leu)
|
rs137931613
|
0.00077
|
NM_001844.5(COL2A1):c.1068G>A (p.Pro356=)
|
rs147202936
|
0.00077
|
NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg)
|
rs149459564
|
0.00077
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
NM_005670.4(EPM2A):c.24G>A (p.Val8=)
|
rs587780938
|
0.00077
|
NM_005876.5(SPEG):c.6694C>A (p.Pro2232Thr)
|
rs371302780
|
0.00077
|
NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu)
|
rs553561553
|
0.00077
|
NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp)
|
rs112209873
|
0.00077
|
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)
|
rs150296373
|
0.00077
|
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln)
|
rs145343609
|
0.00077
|
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)
|
rs140095832
|
0.00077
|
NM_173630.4(RTTN):c.1221A>G (p.Glu407=)
|
rs112327299
|
0.00077
|
NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln)
|
rs201417343
|
0.00077
|
NM_000193.4(SHH):c.1078C>T (p.Leu360=)
|
rs191903572
|
0.00076
|
NM_000284.4(PDHA1):c.507G>A (p.Ala169=)
|
rs141862527
|
0.00076
|
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=)
|
rs372702466
|
0.00076
|
NM_000744.7(CHRNA4):c.1108C>T (p.Arg370Trp)
|
rs76378652
|
0.00076
|
NM_001003722.2(GLE1):c.5C>G (p.Pro2Arg)
|
rs150246404
|
0.00076
|
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)
|
rs186476316
|
0.00076
|
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His)
|
rs201505306
|
0.00076
|
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)
|
rs184643087
|
0.00076
|
NM_001353214.3(DYM):c.946+7G>A
|
rs150849326
|
0.00076
|
NM_001365536.1(SCN9A):c.688+9T>C
|
rs188814235
|
0.00076
|
NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly)
|
rs201829296
|
0.00076
|
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=)
|
rs200459890
|
0.00076
|
NM_001378477.3(NYX):c.567C>A (p.Ile189=)
|
rs746383908
|
0.00076
|
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln)
|
rs141663473
|
0.00076
|
NM_002180.3(IGHMBP2):c.1060+8G>T
|
rs201147313
|
0.00076
|
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)
|
rs144807538
|
0.00076
|
NM_003193.5(TBCE):c.253A>G (p.Ile85Val)
|
rs143886167
|
0.00076
|
NM_004369.4(COL6A3):c.6138C>T (p.Ile2046=)
|
rs115401779
|
0.00076
|
NM_004667.6(HERC2):c.2747-3C>A
|
rs200632307
|
0.00076
|
NM_005045.4(RELN):c.3913-9T>C
|
rs372473867
|
0.00076
|
NM_005199.5(CHRNG):c.1100T>C (p.Val367Ala)
|
rs74691009
|
0.00076
|
NM_006005.3(WFS1):c.1152C>T (p.Phe384=)
|
rs149846741
|
0.00076
|
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His)
|
rs104894649
|
0.00076
|
NM_014425.5(INVS):c.1925A>G (p.Lys642Arg)
|
rs116314059
|
0.00076
|
NM_015102.5(NPHP4):c.3843G>T (p.Leu1281=)
|
rs9662691
|
0.00076
|
NM_016239.4(MYO15A):c.269T>C (p.Met90Thr)
|
rs373294263
|
0.00076
|
NM_024915.4(GRHL2):c.804C>T (p.Thr268=)
|
rs55682875
|
0.00076
|
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys)
|
rs201236317
|
0.00076
|
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)
|
rs60662302
|
0.00076
|
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly)
|
rs138407813
|
0.00076
|
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00076
|
NM_207361.6(FREM2):c.2823C>T (p.Pro941=)
|
rs150154438
|
0.00076
|
NM_000023.4(SGCA):c.366G>A (p.Leu122=)
|
rs147739328
|
0.00075
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
NM_000288.4(PEX7):c.339+10A>G
|
rs374668045
|
0.00075
|
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys)
|
rs767333157
|
0.00075
|
NM_001083961.2(WDR62):c.3303G>A (p.Thr1101=)
|
rs117887683
|
0.00075
|
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=)
|
rs150069819
|
0.00075
|
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys)
|
rs200445568
|
0.00075
|
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys)
|
rs142525903
|
0.00075
|
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile)
|
rs182125538
|
0.00075
|
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala)
|
rs138899581
|
0.00075
|
NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val)
|
rs148641361
|
0.00075
|
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)
|
rs141137543
|
0.00075
|
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr)
|
rs138125827
|
0.00075
|
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)
|
rs143155918
|
0.00075
|
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)
|
rs148962110
|
0.00075
|
NM_020822.3(KCNT1):c.942C>T (p.Thr314=)
|
rs144766991
|
0.00075
|
NM_080916.3(DGUOK):c.630G>A (p.Glu210=)
|
rs115206553
|
0.00075
|
NM_138694.4(PKHD1):c.7912-5T>G
|
rs371510537
|
0.00075
|
NM_153717.3(EVC):c.1770C>T (p.Asp590=)
|
rs141755737
|
0.00075
|
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His)
|
rs200509072
|
0.00074
|
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)
|
rs140169311
|
0.00074
|
NM_001017420.3(ESCO2):c.1013+7A>G
|
rs149494070
|
0.00074
|
NM_001079802.2(FKTN):c.681G>A (p.Leu227=)
|
rs142604625
|
0.00074
|
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
|
rs121912705
|
0.00074
|
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)
|
rs146733308
|
0.00074
|
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)
|
rs200387466
|
0.00074
|
NM_001277313.2(FMN1):c.3974A>G (p.Gln1325Arg)
|
rs147769257
|
0.00074
|
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser)
|
rs200792504
|
0.00074
|
NM_001384732.1(CPLANE1):c.2132C>T (p.Ser711Leu)
|
rs116237993
|
0.00074
|
NM_001848.3(COL6A1):c.1584G>A (p.Pro528=)
|
rs139243418
|
0.00074
|
NM_001848.3(COL6A1):c.381C>T (p.Thr127=)
|
rs75180385
|
0.00074
|
NM_001927.4(DES):c.785A>T (p.Glu262Val)
|
rs147327878
|
0.00074
|
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe)
|
rs149028067
|
0.00074
|
NM_005045.4(RELN):c.4182A>G (p.Ser1394=)
|
rs147496823
|
0.00074
|
NM_006946.4(SPTBN2):c.1657C>T (p.Arg553Trp)
|
rs116099040
|
0.00074
|
NM_013296.5(GPSM2):c.1486T>A (p.Leu496Ile)
|
rs61758992
|
0.00074
|
NM_014425.5(INVS):c.2311G>A (p.Asp771Asn)
|
rs115754570
|
0.00074
|
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys)
|
rs184043065
|
0.00074
|
NM_022369.4(STRA6):c.357C>T (p.Pro119=)
|
rs139775570
|
0.00074
|
NM_022437.3(ABCG8):c.1411+8T>A
|
rs201991639
|
0.00074
|
NM_022458.4(LMBR1):c.843G>A (p.Arg281=)
|
rs140806590
|
0.00074
|
NM_024408.4(NOTCH2):c.5074A>G (p.Ile1692Val)
|
rs143134864
|
0.00074
|
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=)
|
rs200946170
|
0.00074
|
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu)
|
rs146913105
|
0.00074
|
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=)
|
rs148104605
|
0.00073
|
NM_000238.4(KCNH2):c.51C>G (p.Thr17=)
|
rs144338227
|
0.00073
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
NM_000260.4(MYO7A):c.3503+17G>A
|
rs369969967
|
0.00073
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)
|
rs200594798
|
0.00073
|
NM_001277313.2(FMN1):c.2044-1493G>T
|
rs201555719
|
0.00073
|
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)
|
rs202205643
|
0.00073
|
NM_001379270.1(CNGA1):c.360C>T (p.Asn120=)
|
rs147591591
|
0.00073
|
NM_002473.6(MYH9):c.2871C>T (p.Ser957=)
|
rs374840260
|
0.00073
|
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg)
|
rs377452989
|
0.00073
|
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)
|
rs150199251
|
0.00073
|
NM_005068.3(SIM1):c.279C>T (p.Phe93=)
|
rs145361258
|
0.00073
|
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr)
|
rs145641996
|
0.00073
|
NM_006516.4(SLC2A1):c.894C>T (p.Phe298=)
|
rs140825318
|
0.00073
|
NM_018668.5(VPS33B):c.1714T>G (p.Phe572Val)
|
rs145092724
|
0.00073
|
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser)
|
rs139287714
|
0.00073
|
NM_025114.4(CEP290):c.2487A>G (p.Glu829=)
|
rs371159780
|
0.00073
|
NM_025114.4(CEP290):c.341G>A (p.Arg114His)
|
rs150296134
|
0.00073
|
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu)
|
rs113342704
|
0.00073
|
NM_145200.5(CABP4):c.547G>C (p.Gly183Arg)
|
rs146764702
|
0.00073
|
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)
|
rs151247098
|
0.00073
|
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys)
|
rs200206105
|
0.00073
|
NM_201384.3(PLEC):c.4351G>A (p.Glu1451Lys)
|
rs868906137
|
0.00073
|
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)
|
rs146382972
|
0.00072
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00072
|
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)
|
rs36211716
|
0.00072
|
NM_000550.3(TYRP1):c.785C>T (p.Thr262Met)
|
rs61752939
|
0.00072
|
NM_001029883.3(PCARE):c.667C>G (p.Leu223Val)
|
rs372323929
|
0.00072
|
NM_001097577.3(ANG):c.208A>G (p.Ile70Val)
|
rs121909541
|
0.00072
|
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)
|
rs185596534
|
0.00072
|
NM_001130987.2(DYSF):c.6174-9C>T
|
rs201070766
|
0.00072
|
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser)
|
rs145102275
|
0.00072
|
NM_001177316.2(SLC34A3):c.1484G>C (p.Gly495Ala)
|
rs140869490
|
0.00072
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00072
|
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=)
|
rs77934864
|
0.00072
|
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln)
|
rs149641783
|
0.00072
|
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn)
|
rs138285547
|
0.00072
|
NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro)
|
rs146630369
|
0.00072
|
NM_005045.4(RELN):c.1035A>G (p.Leu345=)
|
rs113998363
|
0.00072
|
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn)
|
rs146309392
|
0.00072
|
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu)
|
rs180775012
|
0.00072
|
NM_006269.2(RP1):c.228C>T (p.Leu76=)
|
rs142600056
|
0.00072
|
NM_006767.4(LZTR1):c.1990G>A (p.Ala664Thr)
|
rs140874089
|
0.00072
|
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=)
|
rs149185385
|
0.00072
|
NM_022081.6(HPS4):c.*5C>T
|
rs373741660
|
0.00072
|
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)
|
rs139658279
|
0.00072
|
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)
|
rs202190568
|
0.00072
|
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala)
|
rs17848485
|
0.00071
|
NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg)
|
rs142506651
|
0.00071
|
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=)
|
rs370996795
|
0.00071
|
NM_001089.3(ABCA3):c.2675G>A (p.Arg892His)
|
rs142687030
|
0.00071
|
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)
|
rs200048692
|
0.00071
|
NM_001130987.2(DYSF):c.2034G>A (p.Val678=)
|
rs138111360
|
0.00071
|
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)
|
rs55725279
|
0.00071
|
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met)
|
rs113688475
|
0.00071
|
NM_001374385.1(ATP8B1):c.1892G>A (p.Arg631Gln)
|
rs150499790
|
0.00071
|
NM_001374385.1(ATP8B1):c.3725C>G (p.Thr1242Ser)
|
rs139012426
|
0.00071
|
NM_002693.3(POLG):c.578G>A (p.Arg193Gln)
|
rs3176162
|
0.00071
|
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr)
|
rs183621659
|
0.00071
|
NM_007254.4(PNKP):c.501G>A (p.Val167=)
|
rs142143566
|
0.00071
|
NM_016341.4(PLCE1):c.4935G>A (p.Leu1645=)
|
rs369632735
|
0.00071
|
NM_018451.5(CPAP):c.3922G>A (p.Val1308Ile)
|
rs140564566
|
0.00071
|
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)
|
rs149925563
|
0.00071
|
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=)
|
rs139404261
|
0.00071
|
NM_057176.3(BSND):c.715C>T (p.Gln239Ter)
|
rs147394986
|
0.00071
|
NM_182961.4(SYNE1):c.7647C>T (p.His2549=)
|
rs113163375
|
0.00071
|
NM_198428.3(BBS9):c.2214C>T (p.Ile738=)
|
rs148536971
|
0.00071
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00070
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000183.3(HADHB):c.246A>G (p.Ala82=)
|
rs151302743
|
0.00070
|
NM_000274.4(OAT):c.48C>T (p.Arg16=)
|
rs143526711
|
0.00070
|
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser)
|
rs111969225
|
0.00070
|
NM_000883.4(IMPDH1):c.1173A>G (p.Thr391=)
|
rs138502867
|
0.00070
|
NM_001083961.2(WDR62):c.922A>G (p.Ile308Val)
|
rs146229976
|
0.00070
|
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)
|
rs201836062
|
0.00070
|
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)
|
rs56399205
|
0.00070
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
NM_001351132.2(PEX5):c.1178G>A (p.Arg393Gln)
|
rs145690714
|
0.00070
|
NM_001351132.2(PEX5):c.1638C>T (p.Arg546=)
|
rs142408719
|
0.00070
|
NM_001371279.1(REEP1):c.231G>A (p.Leu77=)
|
rs139808535
|
0.00070
|
NM_001378414.1(HDAC4):c.681C>T (p.His227=)
|
rs148880349
|
0.00070
|
NM_001453.3(FOXC1):c.597C>G (p.Arg199=)
|
rs529227054
|
0.00070
|
NM_001701.4(BAAT):c.685G>A (p.Val229Ile)
|
rs141722672
|
0.00070
|
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val)
|
rs138674440
|
0.00070
|
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=)
|
rs143651470
|
0.00070
|
NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=)
|
rs148195895
|
0.00070
|
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=)
|
rs139091551
|
0.00070
|
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)
|
rs147366706
|
0.00070
|
NM_005982.4(SIX1):c.330G>A (p.Arg110=)
|
rs73309461
|
0.00070
|
NM_006294.5(UQCRB):c.200T>A (p.Leu67Gln)
|
rs139283183
|
0.00070
|
NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His)
|
rs79762798
|
0.00070
|
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)
|
rs139517699
|
0.00070
|
NM_022124.6(CDH23):c.5667C>T (p.Asn1889=)
|
rs375358318
|
0.00070
|
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=)
|
rs141089495
|
0.00070
|
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile)
|
rs138968608
|
0.00070
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00070
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro)
|
rs201591640
|
0.00070
|
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp)
|
rs138836357
|
0.00069
|
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr)
|
rs148938083
|
0.00069
|
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)
|
rs140963147
|
0.00069
|
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=)
|
rs146839867
|
0.00069
|
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)
|
rs184319249
|
0.00069
|
NM_001267550.2(TTN):c.12401T>A (p.Ile4134Asn)
|
rs112009206
|
0.00069
|
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp)
|
rs200287703
|
0.00069
|
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=)
|
rs191266255
|
0.00069
|
NM_001371623.1(TCOF1):c.3620A>G (p.Tyr1207Cys)
|
rs146226591
|
0.00069
|
NM_001966.4(EHHADH):c.1814A>G (p.Lys605Arg)
|
rs140844253
|
0.00069
|
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys)
|
rs146419641
|
0.00069
|
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=)
|
rs148818431
|
0.00069
|
NM_007317.3(KIF22):c.1048C>T (p.Arg350Cys)
|
rs149860938
|
0.00069
|
NM_015102.5(NPHP4):c.3851G>A (p.Arg1284His)
|
rs61739637
|
0.00069
|
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=)
|
rs142788731
|
0.00069
|
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=)
|
rs145279584
|
0.00069
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=)
|
rs111367233
|
0.00069
|
NM_201384.3(PLEC):c.1878T>A (p.Thr626=)
|
rs377039110
|
0.00069
|
NM_206933.4(USH2A):c.5265C>T (p.Phe1755=)
|
rs147371835
|
0.00069
|
NM_000426.4(LAMA2):c.6268+5G>C
|
rs182064878
|
0.00068
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
rs140562402
|
0.00068
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=)
|
rs200950362
|
0.00068
|
NM_001017995.3(SH3PXD2B):c.785+4C>G
|
rs369555721
|
0.00068
|
NM_001039876.3(SYNE4):c.243T>C (p.Ser81=)
|
rs149158221
|
0.00068
|
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)
|
rs145063086
|
0.00068
|
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser)
|
rs77029288
|
0.00068
|
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
0.00068
|
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)
|
rs72648206
|
0.00068
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
NM_001458.5(FLNC):c.6808G>A (p.Glu2270Lys)
|
rs202223616
|
0.00068
|
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)
|
rs757712173
|
0.00068
|
NM_005199.5(CHRNG):c.663G>A (p.Ala221=)
|
rs150556220
|
0.00068
|
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn)
|
rs150847674
|
0.00068
|
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=)
|
rs372175239
|
0.00068
|
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)
|
rs78388808
|
0.00068
|
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)
|
rs138951890
|
0.00068
|
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=)
|
rs142454880
|
0.00068
|
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly)
|
rs202093691
|
0.00068
|
NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg)
|
rs147325795
|
0.00068
|
NM_031471.6(FERMT3):c.615C>T (p.Pro205=)
|
rs142774418
|
0.00068
|
NM_144596.4(TTC8):c.1231G>A (p.Gly411Arg)
|
rs139773124
|
0.00068
|
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)
|
rs143205296
|
0.00068
|
NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=)
|
rs111683745
|
0.00068
|
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=)
|
rs145401144
|
0.00068
|
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly)
|
rs142690727
|
0.00068
|
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro)
|
rs147870520
|
0.00068
|
NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln)
|
rs117962829
|
0.00068
|
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=)
|
rs149776188
|
0.00068
|
NM_000478.6(ALPL):c.612C>T (p.Ile204=)
|
rs141448778
|
0.00067
|
NM_000551.4(VHL):c.183C>G (p.Pro61=)
|
rs63650860
|
0.00067
|
NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro)
|
rs143346057
|
0.00067
|
NM_001039958.2(MESP2):c.*9G>A
|
rs187680280
|
0.00067
|
NM_001083961.2(WDR62):c.3612C>T (p.Gly1204=)
|
rs139946168
|
0.00067
|
NM_001242957.3(MAK):c.975G>A (p.Pro325=)
|
rs145014649
|
0.00067
|
NM_001330677.2(TBX15):c.1728A>G (p.Gln576=)
|
rs200564235
|
0.00067
|
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)
|
rs200427832
|
0.00067
|
NM_001457.4(FLNB):c.4307G>A (p.Arg1436Gln)
|
rs140018418
|
0.00067
|
NM_004100.5(EYA4):c.866C>T (p.Thr289Met)
|
rs41286200
|
0.00067
|
NM_004403.3(GSDME):c.823A>G (p.Ile275Val)
|
rs149956122
|
0.00067
|
NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile)
|
rs149359674
|
0.00067
|
NM_014425.5(INVS):c.367C>T (p.Arg123Trp)
|
rs149315279
|
0.00067
|
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr)
|
rs151130105
|
0.00067
|
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn)
|
rs201261159
|
0.00067
|
NM_024596.5(MCPH1):c.1369G>A (p.Glu457Lys)
|
rs201039834
|
0.00067
|
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala)
|
rs369227219
|
0.00067
|
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=)
|
rs147205930
|
0.00067
|
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys)
|
rs200392821
|
0.00067
|
NM_139343.3(BIN1):c.30G>A (p.Thr10=)
|
rs35535012
|
0.00067
|
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys)
|
rs149478021
|
0.00067
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)
|
rs201756421
|
0.00066
|
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=)
|
rs56142348
|
0.00066
|
NM_000875.5(IGF1R):c.4009C>T (p.Arg1337Cys)
|
rs141802822
|
0.00066
|
NM_001004320.2(AGMO):c.1213C>T (p.Arg405Ter)
|
rs139309795
|
0.00066
|
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=)
|
rs200750234
|
0.00066
|
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=)
|
rs138101005
|
0.00066
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=)
|
rs200491758
|
0.00066
|
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)
|
rs200764366
|
0.00066
|
NM_001966.4(EHHADH):c.881C>T (p.Ala294Val)
|
rs140514906
|
0.00066
|
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=)
|
rs142228240
|
0.00066
|
NM_002768.5(CHMP1A):c.198G>A (p.Ala66=)
|
rs201479143
|
0.00066
|
NM_002905.5(RDH5):c.753C>T (p.Arg251=)
|
rs141783438
|
0.00066
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_003835.4(RGS9):c.1658T>C (p.Val553Ala)
|
rs201026246
|
0.00066
|
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu)
|
rs148185533
|
0.00066
|
NM_004463.3(FGD1):c.1647G>A (p.Glu549=)
|
rs142114385
|
0.00066
|
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)
|
rs35638832
|
0.00066
|
NM_013382.7(POMT2):c.1935C>T (p.Leu645=)
|
rs141193672
|
0.00066
|
NM_014714.4(IFT140):c.1667A>G (p.His556Arg)
|
rs137925718
|
0.00066
|
NM_020754.4(ARHGAP31):c.452G>A (p.Arg151Gln)
|
rs201519981
|
0.00066
|
NM_020975.6(RET):c.1124T>A (p.Leu375Gln)
|
rs142338976
|
0.00066
|
NM_024301.5(FKRP):c.606G>A (p.Leu202=)
|
rs140084192
|
0.00066
|
NM_024649.5(BBS1):c.616T>G (p.Leu206Val)
|
rs146052054
|
0.00066
|
NM_025265.4(TSEN2):c.1332A>G (p.Lys444=)
|
rs113981920
|
0.00066
|
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val)
|
rs142981643
|
0.00066
|
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His)
|
rs201416399
|
0.00066
|
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)
|
rs145651593
|
0.00066
|
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)
|
rs145208175
|
0.00066
|
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=)
|
rs201799566
|
0.00066
|
NM_201384.3(PLEC):c.2642C>T (p.Thr881Met)
|
rs200611519
|
0.00066
|
NM_201384.3(PLEC):c.5796G>A (p.Ala1932=)
|
rs375568532
|
0.00066
|
NM_000306.4(POU1F1):c.605-5T>G
|
rs201406891
|
0.00065
|
NM_000426.4(LAMA2):c.2115T>G (p.Leu705=)
|
rs149753273
|
0.00065
|
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)
|
rs142994610
|
0.00065
|
NM_001035.3(RYR2):c.615C>T (p.Ala205=)
|
rs112680790
|
0.00065
|
NM_001083961.2(WDR62):c.1769-7C>T
|
rs137919897
|
0.00065
|
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=)
|
rs41308303
|
0.00065
|
NM_001130987.2(DYSF):c.990C>T (p.Leu330=)
|
rs140809078
|
0.00065
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00065
|
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)
|
rs200550947
|
0.00065
|
NM_001277313.2(FMN1):c.2044-2686C>T
|
rs202063843
|
0.00065
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
NM_001386298.1(CIC):c.5279C>T (p.Ala1760Val)
|
rs45596843
|
0.00065
|
NM_004086.3(COCH):c.153A>C (p.Pro51=)
|
rs573330522
|
0.00065
|
NM_004568.6(SERPINB6):c.750C>T (p.Tyr250=)
|
rs35617833
|
0.00065
|
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)
|
rs61736659
|
0.00065
|
NM_005732.4(RAD50):c.671G>A (p.Arg224His)
|
rs28903088
|
0.00065
|
NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly)
|
rs200545555
|
0.00065
|
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly)
|
rs62617075
|
0.00065
|
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr)
|
rs144748043
|
0.00065
|
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg)
|
rs143451766
|
0.00065
|
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser)
|
rs139921272
|
0.00065
|
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly)
|
rs114116572
|
0.00065
|
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=)
|
rs147560504
|
0.00065
|
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr)
|
rs184868522
|
0.00064
|
NM_000059.4(BRCA2):c.7007+53G>A
|
rs56014558
|
0.00064
|
NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu)
|
rs141764012
|
0.00064
|
NM_000875.5(IGF1R):c.1784G>A (p.Arg595His)
|
rs56248469
|
0.00064
|
NM_001015880.2(PAPSS2):c.1167C>T (p.Asp389=)
|
rs145242127
|
0.00064
|
NM_001077525.3(MTMR14):c.780T>A (p.Asp260Glu)
|
rs142525507
|
0.00064
|
NM_001183.6(ATP6AP1):c.43C>T (p.Arg15Trp)
|
rs201620814
|
0.00064
|
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr)
|
rs188878341
|
0.00064
|
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=)
|
rs377180286
|
0.00064
|
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp)
|
rs73036377
|
0.00064
|
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr)
|
rs185586839
|
0.00064
|
NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser)
|
rs76714828
|
0.00064
|
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=)
|
rs146311719
|
0.00064
|
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)
|
rs150669855
|
0.00064
|
NM_003193.5(TBCE):c.1465C>A (p.Leu489Ile)
|
rs143917509
|
0.00064
|
NM_003865.3(HESX1):c.385G>A (p.Val129Ile)
|
rs143057250
|
0.00064
|
NM_004260.4(RECQL4):c.3600G>A (p.Thr1200=)
|
rs35225938
|
0.00064
|
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)
|
rs143326964
|
0.00064
|
NM_005881.4(BCKDK):c.1218G>A (p.Arg406=)
|
rs145180240
|
0.00064
|
NM_005957.5(MTHFR):c.1392C>T (p.Thr464=)
|
rs79157191
|
0.00064
|
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu)
|
rs143773937
|
0.00064
|
NM_007126.5(VCP):c.1584C>T (p.Ala528=)
|
rs147623367
|
0.00064
|
NM_012418.4(FSCN2):c.1274-3C>T
|
rs201054437
|
0.00064
|
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)
|
rs141033098
|
0.00064
|
NM_014026.6(DCPS):c.87G>T (p.Glu29Asp)
|
rs147935593
|
0.00064
|
NM_016356.5(DCDC2):c.402G>A (p.Pro134=)
|
rs142088541
|
0.00064
|
NM_018941.4(CLN8):c.513C>G (p.Pro171=)
|
rs376910635
|
0.00064
|
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=)
|
rs140815139
|
0.00064
|
NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser)
|
rs144918959
|
0.00064
|
NM_032119.4(ADGRV1):c.2740T>C (p.Tyr914His)
|
rs189967386
|
0.00064
|
NM_058246.4(DNAJB6):c.962C>T (p.Ser321Leu)
|
rs142974468
|
0.00064
|
NM_080916.3(DGUOK):c.708-3T>C
|
rs370071744
|
0.00064
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00064
|
NM_147196.3(TMIE):c.206C>T (p.Ser69Phe)
|
rs188085072
|
0.00064
|
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His)
|
rs200437377
|
0.00064
|
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln)
|
rs117647282
|
0.00064
|
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His)
|
rs202170644
|
0.00064
|
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln)
|
rs370569372
|
0.00064
|
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)
|
rs144383442
|
0.00063
|
NM_000202.8(IDS):c.396G>A (p.Ser132=)
|
rs147108245
|
0.00063
|
NM_000318.3(PEX2):c.269C>T (p.Ser90Phe)
|
rs146354196
|
0.00063
|
NM_000377.3(WAS):c.538C>A (p.His180Asn)
|
rs145040665
|
0.00063
|
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)
|
rs111033193
|
0.00063
|
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=)
|
rs200330469
|
0.00063
|
NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp)
|
rs201086495
|
0.00063
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
NM_001039876.3(SYNE4):c.277G>A (p.Glu93Lys)
|
rs145204031
|
0.00063
|
NM_001039876.3(SYNE4):c.756G>A (p.Ala252=)
|
rs137899688
|
0.00063
|
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=)
|
rs374780430
|
0.00063
|
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)
|
rs201412693
|
0.00063
|
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)
|
rs56341835
|
0.00063
|
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)
|
rs200450022
|
0.00063
|
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)
|
rs182549226
|
0.00063
|
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)
|
rs144291418
|
0.00063
|
NM_002206.3(ITGA7):c.1722C>A (p.Ala574=)
|
rs142311782
|
0.00063
|
NM_003193.5(TBCE):c.100+6C>T
|
rs182896657
|
0.00063
|
NM_005633.4(SOS1):c.3391+7A>G
|
rs201982464
|
0.00063
|
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His)
|
rs199589423
|
0.00063
|
NM_006129.5(BMP1):c.2134G>A (p.Gly712Ser)
|
rs117159093
|
0.00063
|
NM_014140.4(SMARCAL1):c.863-9C>G
|
rs188833040
|
0.00063
|
NM_031220.4(PITPNM3):c.987G>A (p.Leu329=)
|
rs148451236
|
0.00063
|
NM_133379.5(TTN):c.16613G>A (p.Arg5538His)
|
rs145932311
|
0.00063
|
NM_153704.6(TMEM67):c.107C>T (p.Ala36Val)
|
rs34779331
|
0.00063
|
NM_198904.4(GABRG2):c.798T>C (p.Phe266=)
|
rs115126975
|
0.00063
|
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys)
|
rs148711133
|
0.00063
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
NM_000057.4(BLM):c.2919C>T (p.Tyr973=)
|
rs181161119
|
0.00062
|
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)
|
rs61755813
|
0.00062
|
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=)
|
rs375534041
|
0.00062
|
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg)
|
rs200970855
|
0.00062
|
NM_001173467.3(SP7):c.1272G>A (p.Glu424=)
|
rs182820275
|
0.00062
|
NM_001252024.2(TRPM1):c.507C>T (p.His169=)
|
rs201157794
|
0.00062
|
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala)
|
rs200118743
|
0.00062
|
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr)
|
rs373099440
|
0.00062
|
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val)
|
rs200074974
|
0.00062
|
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu)
|
rs200266868
|
0.00062
|
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr)
|
rs151036570
|
0.00062
|
NM_002473.6(MYH9):c.591G>A (p.Ser197=)
|
rs140241271
|
0.00062
|
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu)
|
rs142780305
|
0.00062
|
NM_003049.4(SLC10A1):c.957G>A (p.Met319Ile)
|
rs149272163
|
0.00062
|
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)
|
rs200104362
|
0.00062
|
NM_004006.3(DMD):c.10262+1G>A
|
rs145603325
|
0.00062
|
NM_004608.4(TBX6):c.585C>T (p.Val195=)
|
rs148435229
|
0.00062
|
NM_005529.7(HSPG2):c.732A>G (p.Thr244=)
|
rs139842104
|
0.00062
|
NM_006017.3(PROM1):c.1469G>A (p.Ser490Asn)
|
rs201027172
|
0.00062
|
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile)
|
rs142299878
|
0.00062
|
NM_015192.4(PLCB1):c.2841A>G (p.Glu947=)
|
rs35245209
|
0.00062
|
NM_016239.4(MYO15A):c.8157C>T (p.His2719=)
|
rs373955726
|
0.00062
|
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn)
|
rs200958035
|
0.00062
|
NM_021072.4(HCN1):c.1619-3T>C
|
rs376434225
|
0.00062
|
NM_022124.6(CDH23):c.1185C>T (p.Ser395=)
|
rs185105210
|
0.00062
|
NM_031220.4(PITPNM3):c.2355G>A (p.Pro785=)
|
rs146899730
|
0.00062
|
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe)
|
rs138452760
|
0.00062
|
NM_201384.3(PLEC):c.7098G>T (p.Arg2366=)
|
rs79489944
|
0.00062
|
NM_213599.3(ANO5):c.294G>A (p.Ala98=)
|
rs142858990
|
0.00062
|
NM_000235.4(LIPA):c.889A>G (p.Ser297Gly)
|
rs147426329
|
0.00061
|
NM_000283.4(PDE6B):c.2193+15C>T
|
rs376883350
|
0.00061
|
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=)
|
rs147283849
|
0.00061
|
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)
|
rs151325948
|
0.00061
|
NM_000875.5(IGF1R):c.2121C>T (p.Ala707=)
|
rs34129005
|
0.00061
|
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=)
|
rs144228973
|
0.00061
|
NM_001089.3(ABCA3):c.385G>A (p.Val129Met)
|
rs137924161
|
0.00061
|
NM_001126121.2(SLC25A19):c.842T>G (p.Phe281Cys)
|
rs138376525
|
0.00061
|
NM_001206979.2(NR1H4):c.18T>C (p.Asn6=)
|
rs140648896
|
0.00061
|
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)
|
rs190636272
|
0.00061
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
NM_001267550.2(TTN):c.39211+6C>T
|
rs187365142
|
0.00061
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln)
|
rs376820301
|
0.00061
|
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr)
|
rs367949317
|
0.00061
|
NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg)
|
rs146000214
|
0.00061
|
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)
|
rs34995577
|
0.00061
|
NM_001378615.1(CC2D2A):c.2774G>A (p.Arg925Gln)
|
rs200707391
|
0.00061
|
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg)
|
rs201635205
|
0.00061
|
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)
|
rs117583120
|
0.00061
|
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=)
|
rs147637674
|
0.00061
|
NM_002206.3(ITGA7):c.537G>A (p.Gly179=)
|
rs145463677
|
0.00061
|
NM_002693.3(POLG):c.1386G>A (p.Ser462=)
|
rs62640034
|
0.00061
|
NM_002900.3(RBP3):c.126G>A (p.Pro42=)
|
rs146175391
|
0.00061
|
NM_003742.4(ABCB11):c.383G>A (p.Arg128His)
|
rs181533618
|
0.00061
|
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)
|
rs148038440
|
0.00061
|
NM_005562.3(LAMC2):c.1318A>G (p.Ile440Val)
|
rs147889360
|
0.00061
|
NM_005957.5(MTHFR):c.1032-6A>G
|
rs2066464
|
0.00061
|
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His)
|
rs142176861
|
0.00061
|
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)
|
rs201503405
|
0.00061
|
NM_012470.4(TNPO3):c.2741C>T (p.Ala914Val)
|
rs61756249
|
0.00061
|
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=)
|
rs374146357
|
0.00061
|
NM_016356.5(DCDC2):c.817C>T (p.Pro273Ser)
|
rs146787541
|
0.00061
|
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=)
|
rs146121135
|
0.00061
|
NM_024422.6(DSC2):c.172T>G (p.Phe58Val)
|
rs138749562
|
0.00061
|
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)
|
rs200816323
|
0.00061
|
NM_133497.4(KCNV2):c.80G>A (p.Arg27His)
|
rs145731729
|
0.00061
|
NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr)
|
rs73273219
|
0.00061
|
NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp)
|
rs201041716
|
0.00061
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)
|
rs146692150
|
0.00060
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
0.00060
|
NM_000137.4(FAH):c.553+10C>T
|
rs201051426
|
0.00060
|
NM_000318.3(PEX2):c.722G>T (p.Gly241Val)
|
rs150734057
|
0.00060
|
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala)
|
rs78880369
|
0.00060
|
NM_000543.5(SMPD1):c.8G>A (p.Arg3His)
|
rs199836262
|
0.00060
|
NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe)
|
rs182866658
|
0.00060
|
NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met)
|
rs142220309
|
0.00060
|
NM_001267550.2(TTN):c.29042-2A>C
|
rs6716782
|
0.00060
|
NM_001267550.2(TTN):c.55659G>A (p.Val18553=)
|
rs368450420
|
0.00060
|
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala)
|
rs199784966
|
0.00060
|
NM_001369268.1(ACAN):c.1448G>A (p.Arg483His)
|
rs200950723
|
0.00060
|
NM_001384140.1(PCDH15):c.5022C>T (p.Ala1674=)
|
rs377244811
|
0.00060
|
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg)
|
rs189525930
|
0.00060
|
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=)
|
rs139114389
|
0.00060
|
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)
|
rs142851023
|
0.00060
|
NM_005506.4(SCARB2):c.424-4G>A
|
rs368869126
|
0.00060
|
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)
|
rs141959242
|
0.00060
|
NM_012301.4(MAGI2):c.3706+5G>A
|
rs188293910
|
0.00060
|
NM_014208.3(DSPP):c.1073G>A (p.Arg358Lys)
|
rs201110163
|
0.00060
|
NM_015102.5(NPHP4):c.1482G>A (p.Gln494=)
|
rs199557439
|
0.00060
|
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=)
|
rs199628481
|
0.00060
|
NM_015192.4(PLCB1):c.1881G>A (p.Gln627=)
|
rs45492700
|
0.00060
|
NM_017668.3(NDE1):c.386+9G>A
|
rs147174812
|
0.00060
|
NM_022436.3(ABCG5):c.510C>T (p.Ala170=)
|
rs147061424
|
0.00060
|
NM_024301.5(FKRP):c.969C>T (p.Arg323=)
|
rs532054402
|
0.00060
|
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr)
|
rs183880522
|
0.00060
|
NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln)
|
rs141317462
|
0.00060
|
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)
|
rs200115167
|
0.00060
|
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys)
|
rs376401006
|
0.00060
|
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr)
|
rs199833843
|
0.00060
|
NM_153676.4(USH1C):c.360C>T (p.Gly120=)
|
rs140869579
|
0.00060
|
NM_153676.4(USH1C):c.669C>A (p.Gly223=)
|
rs144761543
|
0.00060
|
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg)
|
rs146244669
|
0.00060
|
NM_182961.4(SYNE1):c.5421+9G>T
|
rs376218204
|
0.00060
|
NM_201384.3(PLEC):c.10158G>A (p.Ala3386=)
|
rs373820763
|
0.00060
|
NM_201384.3(PLEC):c.3588C>T (p.Asp1196=)
|
rs377059744
|
0.00060
|
NM_203447.4(DOCK8):c.3263C>T (p.Thr1088Met)
|
rs149065013
|
0.00060
|
NM_000431.4(MVK):c.441C>T (p.Ala147=)
|
rs138342076
|
0.00059
|
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser)
|
rs201820569
|
0.00059
|
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)
|
rs146970014
|
0.00059
|
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=)
|
rs77705198
|
0.00059
|
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)
|
rs199506676
|
0.00059
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00059
|
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=)
|
rs55640811
|
0.00059
|
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=)
|
rs202150325
|
0.00059
|
NM_001457.4(FLNB):c.6843C>T (p.Ile2281=)
|
rs140332932
|
0.00059
|
NM_001966.4(EHHADH):c.1006G>A (p.Ala336Thr)
|
rs146431168
|
0.00059
|
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)
|
rs200662317
|
0.00059
|
NM_006493.4(CLN5):c.459G>A (p.Met153Ile)
|
rs144656959
|
0.00059
|
NM_012254.3(SLC27A5):c.1377+10C>T
|
rs146267408
|
0.00059
|
NM_020779.4(WDR35):c.1227A>G (p.Thr409=)
|
rs148828104
|
0.00059
|
NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly)
|
rs146685625
|
0.00059
|
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)
|
rs140263823
|
0.00058
|
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074
|
0.00058
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
0.00058
|
NM_000243.3(MEFV):c.932C>T (p.Ala311Val)
|
rs74346519
|
0.00058
|
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp)
|
rs138682847
|
0.00058
|
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=)
|
rs147098353
|
0.00058
|
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val)
|
rs145734811
|
0.00058
|
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr)
|
rs144814658
|
0.00058
|
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=)
|
rs377440297
|
0.00058
|
NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr)
|
rs142702703
|
0.00058
|
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys)
|
rs145300090
|
0.00058
|
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)
|
rs146300431
|
0.00058
|
NM_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met)
|
rs201617759
|
0.00058
|
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)
|
rs200103997
|
0.00058
|
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln)
|
rs201418615
|
0.00058
|
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)
|
rs377289817
|
0.00058
|
NM_001319074.4(RAX2):c.156G>A (p.Pro52=)
|
rs141804618
|
0.00058
|
NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=)
|
rs201045619
|
0.00058
|
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)
|
rs200682458
|
0.00058
|
NM_001793.6(CDH3):c.1785C>T (p.Val595=)
|
rs376302917
|
0.00058
|
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln)
|
rs143848379
|
0.00058
|
NM_001927.4(DES):c.656C>T (p.Thr219Ile)
|
rs144901249
|
0.00058
|
NM_002617.4(PEX10):c.896C>T (p.Ala299Val)
|
rs78620392
|
0.00058
|
NM_002618.4(PEX13):c.325C>T (p.Arg109Cys)
|
rs143972531
|
0.00058
|
NM_005220.3(DLX3):c.82G>T (p.Asp28Tyr)
|
rs147702169
|
0.00058
|
NM_005378.6(MYCN):c.8G>C (p.Ser3Thr)
|
rs373683425
|
0.00058
|
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met)
|
rs111759871
|
0.00058
|
NM_005989.4(AKR1D1):c.49A>G (p.Ser17Gly)
|
rs143960528
|
0.00058
|
NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=)
|
rs138152469
|
0.00058
|
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser)
|
rs794727076
|
0.00058
|
NM_012254.3(SLC27A5):c.1338G>A (p.Gly446=)
|
rs148459550
|
0.00058
|
NM_013382.7(POMT2):c.1701C>G (p.Pro567=)
|
rs151051452
|
0.00058
|
NM_014425.5(INVS):c.2386C>G (p.Gln796Glu)
|
rs147731667
|
0.00058
|
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp)
|
rs146655362
|
0.00058
|
NM_015915.5(ATL1):c.1200G>A (p.Lys400=)
|
rs144792471
|
0.00058
|
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly)
|
rs113856002
|
0.00058
|
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg)
|
rs147091667
|
0.00058
|
NM_057176.3(BSND):c.851G>A (p.Gly284Asp)
|
rs150426464
|
0.00058
|
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu)
|
rs144826521
|
0.00058
|
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=)
|
rs112634620
|
0.00058
|
NM_173477.5(USH1G):c.1340G>A (p.Arg447Gln)
|
rs201359669
|
0.00058
|
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val)
|
rs143093185
|
0.00058
|
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala)
|
rs117461489
|
0.00058
|
NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln)
|
rs151317163
|
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.164C>T (p.Thr55Met)
|
rs201414567
|
0.00057
|
NM_000392.5(ABCC2):c.2613A>G (p.Glu871=)
|
rs76302654
|
0.00057
|
NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val)
|
rs28364997
|
0.00057
|
NM_001080.3(ALDH5A1):c.183C>G (p.Thr61=)
|
rs776791710
|
0.00057
|
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)
|
rs374749004
|
0.00057
|
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=)
|
rs190978463
|
0.00057
|
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)
|
rs192001910
|
0.00057
|
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)
|
rs55945684
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)
|
rs150093365
|
0.00057
|
NM_001458.5(FLNC):c.2390-8C>G
|
rs146063718
|
0.00057
|
NM_001848.3(COL6A1):c.993C>T (p.Asp331=)
|
rs373948031
|
0.00057
|
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=)
|
rs149077114
|
0.00057
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00057
|
NM_002334.4(LRP4):c.570C>T (p.Pro190=)
|
rs147353838
|
0.00057
|
NM_002473.6(MYH9):c.1566G>A (p.Pro522=)
|
rs145517108
|
0.00057
|
NM_006662.3(SRCAP):c.2573G>A (p.Arg858His)
|
rs35892240
|
0.00057
|
NM_016356.5(DCDC2):c.1423G>A (p.Val475Met)
|
rs145154884
|
0.00057
|
NM_022124.6(CDH23):c.3927G>A (p.Glu1309=)
|
rs115398922
|
0.00057
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00057
|
NM_024301.5(FKRP):c.531G>A (p.Glu177=)
|
rs768007208
|
0.00057
|
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)
|
rs116164106
|
0.00057
|
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile)
|
rs149111536
|
0.00057
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
0.00057
|
NM_178857.6(RP1L1):c.3200G>C (p.Gly1067Ala)
|
rs201393573
|
0.00057
|
NM_000035.4(ALDOB):c.525C>T (p.Ala175=)
|
rs144196914
|
0.00056
|
NM_000141.5(FGFR2):c.759T>G (p.Pro253=)
|
rs3135755
|
0.00056
|
NM_000327.4(ROM1):c.940G>A (p.Gly314Arg)
|
rs141919268
|
0.00056
|
NM_000392.5(ABCC2):c.3561G>A (p.Glu1187=)
|
rs17216324
|
0.00056
|
NM_000410.4(HFE):c.884T>C (p.Val295Ala)
|
rs143175221
|
0.00056
|
NM_000426.4(LAMA2):c.7300+10T>A
|
rs200469923
|
0.00056
|
NM_000492.4(CFTR):c.*2G>A
|
rs150914702
|
0.00056
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln)
|
rs373178892
|
0.00056
|
NM_001130438.3(SPTAN1):c.7161-9C>T
|
rs187613754
|
0.00056
|
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn)
|
rs56019808
|
0.00056
|
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=)
|
rs147131392
|
0.00056
|
NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=)
|
rs149640638
|
0.00056
|
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)
|
rs371086728
|
0.00056
|
NM_001605.3(AARS1):c.600C>T (p.Ala200=)
|
rs150080663
|
0.00056
|
NM_001844.5(COL2A1):c.195C>T (p.Asp65=)
|
rs202210896
|
0.00056
|
NM_002693.3(POLG):c.1275C>T (p.Ala425=)
|
rs147404477
|
0.00056
|
NM_002693.3(POLG):c.798G>T (p.Val266=)
|
rs143631183
|
0.00056
|
NM_005045.4(RELN):c.3147-4A>G
|
rs375230548
|
0.00056
|
NM_005477.3(HCN4):c.2739G>A (p.Ala913=)
|
rs373411041
|
0.00056
|
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr)
|
rs143109401
|
0.00056
|
NM_014780.5(CUL7):c.2163T>C (p.Asp721=)
|
rs145572983
|
0.00056
|
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly)
|
rs142901223
|
0.00056
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00056
|
NM_025074.7(FRAS1):c.969G>A (p.Val323=)
|
rs377333036
|
0.00056
|
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)
|
rs201963060
|
0.00056
|
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)
|
rs147612089
|
0.00056
|
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)
|
rs141622697
|
0.00056
|
NM_138694.4(PKHD1):c.3627G>A (p.Leu1209=)
|
rs182216709
|
0.00056
|
NM_170699.3(GPBAR1):c.329G>A (p.Arg110His)
|
rs186702546
|
0.00056
|
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=)
|
rs144105769
|
0.00056
|
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg)
|
rs141397112
|
0.00056
|
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=)
|
rs150905950
|
0.00056
|
NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys)
|
rs139466191
|
0.00056
|
NM_198525.3(KIF7):c.3264C>T (p.Leu1088=)
|
rs138764398
|
0.00056
|
NM_201384.3(PLEC):c.13509C>T (p.Arg4503=)
|
rs190789703
|
0.00056
|
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp)
|
rs142509759
|
0.00055
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00055
|
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=)
|
rs140936904
|
0.00055
|
NM_000460.4(THPO):c.639T>A (p.Thr213=)
|
rs1042348
|
0.00055
|
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)
|
rs142348542
|
0.00055
|
NM_000843.4(GRM6):c.1571C>T (p.Pro524Leu)
|
rs143491269
|
0.00055
|
NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met)
|
rs147945403
|
0.00055
|
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe)
|
rs200251444
|
0.00055
|
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)
|
rs762918371
|
0.00055
|
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp)
|
rs144411579
|
0.00055
|
NM_001614.5(ACTG1):c.228C>T (p.Val76=)
|
rs143028649
|
0.00055
|
NM_001966.4(EHHADH):c.1068C>T (p.His356=)
|
rs142166617
|
0.00055
|
NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe)
|
rs148023627
|
0.00055
|
NM_014208.3(DSPP):c.768C>T (p.Asp256=)
|
rs374400491
|
0.00055
|
NM_014639.4(SKIC3):c.3341+9A>G
|
rs376170264
|
0.00055
|
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu)
|
rs138434761
|
0.00055
|
NM_170784.3(MKKS):c.*10A>G
|
rs144934812
|
0.00055
|
NM_181303.2(NLGN3):c.603C>G (p.Pro201=)
|
rs35794236
|
0.00055
|
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His)
|
rs200722246
|
0.00055
|
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)
|
rs138828590
|
0.00054
|
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=)
|
rs55978207
|
0.00054
|
NM_000231.3(SGCG):c.58A>G (p.Asn20Asp)
|
rs763248287
|
0.00054
|
NM_000288.4(PEX7):c.418-4G>T
|
rs199552223
|
0.00054
|
NM_000392.5(ABCC2):c.4071G>C (p.Gln1357His)
|
rs148393425
|
0.00054
|
NM_000553.6(WRN):c.3453G>A (p.Glu1151=)
|
rs144116311
|
0.00054
|
NM_001004127.3(ALG11):c.802C>A (p.Leu268Ile)
|
rs148434423
|
0.00054
|
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr)
|
rs140614903
|
0.00054
|
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val)
|
rs148140756
|
0.00054
|
NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr)
|
rs200121902
|
0.00054
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00054
|
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly)
|
rs72646849
|
0.00054
|
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)
|
rs72646855
|
0.00054
|
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)
|
rs144562471
|
0.00054
|
NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu)
|
rs771000169
|
0.00054
|
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp)
|
rs104895427
|
0.00054
|
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363
|
0.00054
|
NM_001457.4(FLNB):c.4040A>G (p.Asn1347Ser)
|
rs146093652
|
0.00054
|
NM_001701.4(BAAT):c.341T>A (p.Val114Glu)
|
rs143561437
|
0.00054
|
NM_002334.4(LRP4):c.1194A>G (p.Glu398=)
|
rs138589242
|
0.00054
|
NM_003049.4(SLC10A1):c.393T>G (p.Leu131=)
|
rs61744165
|
0.00054
|
NM_003193.5(TBCE):c.833+8G>T
|
rs372236046
|
0.00054
|
NM_003977.4(AIP):c.382C>T (p.Arg128Cys)
|
rs140530307
|
0.00054
|
NM_004006.3(DMD):c.8436T>C (p.Leu2812=)
|
rs139365076
|
0.00054
|
NM_005045.4(RELN):c.6939T>C (p.Ile2313=)
|
rs113498433
|
0.00054
|
NM_006078.5(CACNG2):c.640G>A (p.Ala214Thr)
|
rs139052540
|
0.00054
|
NM_006516.4(SLC2A1):c.276-7T>C
|
rs369273744
|
0.00054
|
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=)
|
rs148868283
|
0.00054
|
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr)
|
rs201968775
|
0.00054
|
NM_012188.5(FOXI1):c.825C>T (p.Ala275=)
|
rs147596900
|
0.00054
|
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=)
|
rs141078449
|
0.00054
|
NM_015404.4(WHRN):c.1455G>A (p.Pro485=)
|
rs141807746
|
0.00054
|
NM_015915.5(ATL1):c.631-7T>A
|
rs186528086
|
0.00054
|
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val)
|
rs200930743
|
0.00054
|
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=)
|
rs376298949
|
0.00054
|
NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys)
|
rs147011199
|
0.00054
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998
|
0.00054
|
NM_032382.5(COG8):c.1682C>T (p.Thr561Met)
|
rs143411142
|
0.00054
|
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr)
|
rs139486133
|
0.00054
|
NM_133379.5(TTN):c.14812A>G (p.Met4938Val)
|
rs145581345
|
0.00054
|
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)
|
rs149163661
|
0.00054
|
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser)
|
rs200461617
|
0.00054
|
NM_182914.3(SYNE2):c.10494A>G (p.Thr3498=)
|
rs201000414
|
0.00054
|
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile)
|
rs139170018
|
0.00054
|
NM_194318.4(B3GLCT):c.288C>T (p.Leu96=)
|
rs9542305
|
0.00054
|
NM_201384.3(PLEC):c.6426C>T (p.Ala2142=)
|
rs200062782
|
0.00054
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00054
|
NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly)
|
rs150532013
|
0.00054
|
NM_206933.4(USH2A):c.7301-6C>T
|
rs375499259
|
0.00054
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00053
|
NM_000350.3(ABCA4):c.3468C>T (p.Tyr1156=)
|
rs113698006
|
0.00053
|
NM_000373.4(UMPS):c.126C>A (p.Gly42=)
|
rs143828400
|
0.00053
|
NM_000390.4(CHM):c.1244+8T>A
|
rs369829791
|
0.00053
|
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu)
|
rs150434290
|
0.00053
|
NM_001039141.3(TRIOBP):c.3219G>A (p.Ala1073=)
|
rs374759271
|
0.00053
|
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg)
|
rs370077023
|
0.00053
|
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys)
|
rs189127014
|
0.00053
|
NM_001378414.1(HDAC4):c.3174C>T (p.Ala1058=)
|
rs142279745
|
0.00053
|
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)
|
rs373960465
|
0.00053
|
NM_001793.6(CDH3):c.1443C>T (p.Asp481=)
|
rs144403828
|
0.00053
|
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)
|
rs140985224
|
0.00053
|
NM_003482.4(KMT2D):c.6354C>T (p.Pro2118=)
|
rs377392943
|
0.00053
|
NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met)
|
rs145152682
|
0.00053
|
NM_006009.4(TUBA1A):c.4-7C>T
|
rs560491477
|
0.00053
|
NM_006019.4(TCIRG1):c.2397C>T (p.His799=)
|
rs141356870
|
0.00053
|
NM_006922.4(SCN3A):c.1381-4A>G
|
rs199597878
|
0.00053
|
NM_012254.3(SLC27A5):c.1668-10C>T
|
rs375785125
|
0.00053
|
NM_014874.4(MFN2):c.756C>T (p.Asn252=)
|
rs137960129
|
0.00053
|
NM_015294.6(TRIM37):c.2240A>G (p.Asn747Ser)
|
rs143613788
|
0.00053
|
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn)
|
rs201415651
|
0.00053
|
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228
|
0.00053
|
NM_022124.6(CDH23):c.1446C>A (p.Val482=)
|
rs200324241
|
0.00053
|
NM_022124.6(CDH23):c.5505G>A (p.Met1835Ile)
|
rs200786014
|
0.00053
|
NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr)
|
rs200576500
|
0.00053
|
NM_147196.3(TMIE):c.219G>A (p.Thr73=)
|
rs202208051
|
0.00053
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
NM_201548.5(CERKL):c.589G>T (p.Ala197Ser)
|
rs151110889
|
0.00053
|
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp)
|
rs150124840
|
0.00052
|
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr)
|
rs17109853
|
0.00052
|
NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser)
|
rs139244736
|
0.00052
|
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)
|
rs138704724
|
0.00052
|
NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu)
|
rs139323683
|
0.00052
|
NM_000875.5(IGF1R):c.3187-5C>T
|
rs45495500
|
0.00052
|
NM_000875.5(IGF1R):c.568C>T (p.Pro190Ser)
|
rs144739747
|
0.00052
|
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=)
|
rs200793989
|
0.00052
|
NM_001082538.3(TCTN1):c.934G>A (p.Val312Ile)
|
rs118057448
|
0.00052
|
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)
|
rs201035511
|
0.00052
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
0.00052
|
NM_001304438.2(TMEM132E):c.2655A>C (p.Thr885=)
|
rs146702736
|
0.00052
|
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln)
|
rs137964936
|
0.00052
|
NM_001374385.1(ATP8B1):c.2358G>A (p.Val786=)
|
rs33965008
|
0.00052
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00052
|
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu)
|
rs11568361
|
0.00052
|
NM_004817.4(TJP2):c.908C>T (p.Pro303Leu)
|
rs199641113
|
0.00052
|
NM_004817.4(TJP2):c.981C>A (p.Ile327=)
|
rs147139671
|
0.00052
|
NM_004999.4(MYO6):c.1546+6T>C
|
rs199999513
|
0.00052
|
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn)
|
rs143948239
|
0.00052
|
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val)
|
rs370664761
|
0.00052
|
NM_014425.5(INVS):c.2313T>C (p.Asp771=)
|
rs147112151
|
0.00052
|
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu)
|
rs201845569
|
0.00052
|
NM_020436.5(SALL4):c.2041G>A (p.Ala681Thr)
|
rs147385529
|
0.00052
|
NM_022124.6(CDH23):c.1752+6G>A
|
rs369013539
|
0.00052
|
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=)
|
rs147582834
|
0.00052
|
NM_022464.5(SIL1):c.573G>A (p.Lys191=)
|
rs148927511
|
0.00052
|
NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys)
|
rs147522485
|
0.00052
|
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)
|
rs201890097
|
0.00052
|
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys)
|
rs140005424
|
0.00052
|
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=)
|
rs139070088
|
0.00052
|
NM_201384.3(PLEC):c.5521G>A (p.Ala1841Thr)
|
rs201657125
|
0.00052
|
NM_000036.3(AMPD1):c.1570T>A (p.Ser524Thr)
|
rs140181682
|
0.00051
|
NM_000070.3(CAPN3):c.1746-7C>G
|
rs199978708
|
0.00051
|
NM_000152.5(GAA):c.1438-9G>A
|
rs202211401
|
0.00051
|
NM_000392.5(ABCC2):c.3521G>A (p.Arg1174His)
|
rs139188247
|
0.00051
|
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu)
|
rs17222744
|
0.00051
|
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)
|
rs200102493
|
0.00051
|
NM_001083961.2(WDR62):c.477G>A (p.Ala159=)
|
rs146485488
|
0.00051
|
NM_001267550.2(TTN):c.23378-10C>A
|
rs72648975
|
0.00051
|
NM_001267550.2(TTN):c.33827-8C>T
|
rs371318311
|
0.00051
|
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His)
|
rs201388509
|
0.00051
|
NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu)
|
rs192788942
|
0.00051
|
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly)
|
rs56391938
|
0.00051
|
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg)
|
rs72648228
|
0.00051
|
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=)
|
rs201727684
|
0.00051
|
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)
|
rs188891842
|
0.00051
|
NM_001378615.1(CC2D2A):c.4648C>T (p.Leu1550=)
|
rs199861496
|
0.00051
|
NM_001848.3(COL6A1):c.1350G>A (p.Pro450=)
|
rs144887329
|
0.00051
|
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met)
|
rs200585528
|
0.00051
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00051
|
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met)
|
rs143583842
|
0.00051
|
NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp)
|
rs201114196
|
0.00051
|
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)
|
rs146906267
|
0.00051
|
NM_004369.4(COL6A3):c.5619C>T (p.His1873=)
|
rs146355600
|
0.00051
|
NM_004393.6(DAG1):c.1212G>A (p.Thr404=)
|
rs139781017
|
0.00051
|
NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser)
|
rs78936193
|
0.00051
|
NM_012210.4(TRIM32):c.276C>T (p.Ser92=)
|
rs140589523
|
0.00051
|
NM_014920.5(CILK1):c.1702A>G (p.Met568Val)
|
rs145842629
|
0.00051
|
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
|
rs201878539
|
0.00051
|
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys)
|
rs150819707
|
0.00051
|
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile)
|
rs151227688
|
0.00051
|
NM_022437.3(ABCG8):c.1416C>T (p.Tyr472=)
|
rs144399404
|
0.00051
|
NM_024408.4(NOTCH2):c.1567+8C>T
|
rs372367275
|
0.00051
|
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser)
|
rs112039037
|
0.00051
|
NM_025074.7(FRAS1):c.3010+9G>A
|
rs148841455
|
0.00051
|
NM_032382.5(COG8):c.1017C>T (p.Gly339=)
|
rs72795277
|
0.00051
|
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys)
|
rs141706561
|
0.00051
|
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His)
|
rs780400922
|
0.00051
|
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln)
|
rs190396031
|
0.00051
|
NM_144599.5(NIPA1):c.312G>A (p.Pro104=)
|
rs139372534
|
0.00051
|
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs)
|
rs745711489
|
0.00051
|
NM_182914.3(SYNE2):c.16591C>A (p.Pro5531Thr)
|
rs145036293
|
0.00051
|
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=)
|
rs147508177
|
0.00051
|
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe)
|
rs61753526
|
0.00051
|
NM_201384.3(PLEC):c.10302C>A (p.Thr3434=)
|
rs199879193
|
0.00051
|
NM_201384.3(PLEC):c.540C>T (p.Cys180=)
|
rs189256993
|
0.00051
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00050
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_000452.3(SLC10A2):c.175C>T (p.Leu59=)
|
rs150970825
|
0.00050
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00050
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00050
|
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)
|
rs139754493
|
0.00050
|
NM_001177316.2(SLC34A3):c.1464T>C (p.Ala488=)
|
rs144666114
|
0.00050
|
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)
|
rs72650064
|
0.00050
|
NM_001297.5(CNGB1):c.2370-9C>T
|
rs374373659
|
0.00050
|
NM_001374385.1(ATP8B1):c.114T>G (p.Ser38=)
|
rs141463153
|
0.00050
|
NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp)
|
rs200482899
|
0.00050
|
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala)
|
rs144814689
|
0.00050
|
NM_003482.4(KMT2D):c.9385C>T (p.Pro3129Ser)
|
rs200089754
|
0.00050
|
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile)
|
rs141259390
|
0.00050
|
NM_004369.4(COL6A3):c.9494-10C>T
|
rs184617787
|
0.00050
|
NM_005506.4(SCARB2):c.486C>T (p.Ala162=)
|
rs143518519
|
0.00050
|
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala)
|
rs144840779
|
0.00050
|
NM_012254.3(SLC27A5):c.1710G>A (p.Val570=)
|
rs141574728
|
0.00050
|
NM_015922.3(NSDHL):c.65C>T (p.Thr22Ile)
|
rs375100066
|
0.00050
|
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys)
|
rs146572467
|
0.00050
|
NM_018136.5(ASPM):c.8068C>T (p.Arg2690Trp)
|
rs41302133
|
0.00050
|
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn)
|
rs144047610
|
0.00050
|
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)
|
rs150783688
|
0.00050
|
NM_201384.3(PLEC):c.3354G>A (p.Val1118=)
|
rs375657597
|
0.00050
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
0.00050
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429
|
0.00049
|
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val)
|
rs145065936
|
0.00049
|
NM_000501.4(ELN):c.470-10C>G
|
rs200663056
|
0.00049
|
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)
|
rs141137410
|
0.00049
|
NM_001146079.2(CLDN14):c.690C>T (p.His230=)
|
rs149733854
|
0.00049
|
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr)
|
rs199847072
|
0.00049
|
NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=)
|
rs141975755
|
0.00049
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00049
|
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=)
|
rs144424662
|
0.00049
|
NM_001966.4(EHHADH):c.78G>A (p.Thr26=)
|
rs150381945
|
0.00049
|
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=)
|
rs72705400
|
0.00049
|
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=)
|
rs141651423
|
0.00049
|
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr)
|
rs140406003
|
0.00049
|
NM_004407.4(DMP1):c.1107C>T (p.Asp369=)
|
rs147451774
|
0.00049
|
NM_006214.4(PHYH):c.678+5G>T
|
rs201499815
|
0.00049
|
NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=)
|
rs369391284
|
0.00049
|
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)
|
rs45487699
|
0.00049
|
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile)
|
rs201734915
|
0.00049
|
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys)
|
rs140154015
|
0.00049
|
NM_018668.5(VPS33B):c.1362C>T (p.Ala454=)
|
rs142964161
|
0.00049
|
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser)
|
rs183633457
|
0.00049
|
NM_032119.4(ADGRV1):c.684T>C (p.Asn228=)
|
rs181889432
|
0.00049
|
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)
|
rs140575619
|
0.00049
|
NM_201384.3(PLEC):c.13182C>T (p.Thr4394=)
|
rs373958891
|
0.00049
|
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr)
|
rs201753022
|
0.00048
|
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
|
rs140482171
|
0.00048
|
NM_000428.3(LTBP2):c.1686+3G>A
|
rs190814774
|
0.00048
|
NM_000503.6(EYA1):c.1699-8T>C
|
rs201537030
|
0.00048
|
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)
|
rs201492706
|
0.00048
|
NM_001035.3(RYR2):c.10231-4T>C
|
rs117180147
|
0.00048
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00048
|
NM_001077365.2(POMT1):c.42C>T (p.Asp14=)
|
rs150937126
|
0.00048
|
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=)
|
rs368907353
|
0.00048
|
NM_001122769.3(LCA5):c.1215T>G (p.Val405=)
|
rs41270545
|
0.00048
|
NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr)
|
rs199764888
|
0.00048
|
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)
|
rs140714512
|
0.00048
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00048
|
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)
|
rs72648259
|
0.00048
|
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)
|
rs199692186
|
0.00048
|
NM_001457.4(FLNB):c.6173A>G (p.Lys2058Arg)
|
rs141698427
|
0.00048
|
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=)
|
rs201575114
|
0.00048
|
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)
|
rs751749989
|
0.00048
|
NM_001849.4(COL6A2):c.1944C>T (p.Ile648=)
|
rs148178994
|
0.00048
|
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)
|
rs147102633
|
0.00048
|
NM_002335.4(LRP5):c.1032G>C (p.Leu344=)
|
rs143499301
|
0.00048
|
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg)
|
rs199940188
|
0.00048
|
NM_004006.3(DMD):c.3162+4A>G
|
rs189048508
|
0.00048
|
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile)
|
rs148759919
|
0.00048
|
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu)
|
rs146950983
|
0.00048
|
NM_006005.3(WFS1):c.2424C>T (p.Ser808=)
|
rs56035336
|
0.00048
|
NM_012210.4(TRIM32):c.*1G>A
|
rs142781513
|
0.00048
|
NM_012470.4(TNPO3):c.120+9C>A
|
rs372906002
|
0.00048
|
NM_016929.5(CLIC5):c.253G>A (p.Val85Ile)
|
rs199808624
|
0.00048
|
NM_018006.5(TRMU):c.772+8G>A
|
rs201372242
|
0.00048
|
NM_018129.4(PNPO):c.723C>G (p.Ser241=)
|
rs144362146
|
0.00048
|
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=)
|
rs146858888
|
0.00048
|
NM_022089.4(ATP13A2):c.2331C>T (p.His777=)
|
rs144708504
|
0.00048
|
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)
|
rs199714523
|
0.00048
|
NM_025193.4(HSD3B7):c.695-6C>T
|
rs139152685
|
0.00048
|
NM_032119.4(ADGRV1):c.13654-7C>T
|
rs373551551
|
0.00048
|
NM_133433.4(NIPBL):c.615G>A (p.Ser205=)
|
rs150678035
|
0.00048
|
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=)
|
rs183674012
|
0.00048
|
NM_152618.3(BBS12):c.978T>A (p.Thr326=)
|
rs115635198
|
0.00048
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val)
|
rs150637898
|
0.00048
|
NM_182961.4(SYNE1):c.17542-7G>A
|
rs199762799
|
0.00048
|
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=)
|
rs147321712
|
0.00048
|
NM_201384.3(PLEC):c.13641C>G (p.Ala4547=)
|
rs782535880
|
0.00048
|
NM_201384.3(PLEC):c.8496C>T (p.Arg2832=)
|
rs369013440
|
0.00048
|
NM_201384.3(PLEC):c.8697C>T (p.Ser2899=)
|
rs200383203
|
0.00048
|
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu)
|
rs147753803
|
0.00048
|
NM_000023.4(SGCA):c.690G>C (p.Leu230=)
|
rs139454982
|
0.00047
|
NM_000452.3(SLC10A2):c.835A>T (p.Thr279Ser)
|
rs149096396
|
0.00047
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00047
|
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=)
|
rs145434723
|
0.00047
|
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr)
|
rs200161949
|
0.00047
|
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)
|
rs373721253
|
0.00047
|
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=)
|
rs148188703
|
0.00047
|
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp)
|
rs61730768
|
0.00047
|
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)
|
rs144245125
|
0.00047
|
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)
|
rs143762717
|
0.00047
|
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser)
|
rs397516621
|
0.00047
|
NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro)
|
rs141686175
|
0.00047
|
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)
|
rs146567534
|
0.00047
|
NM_001374385.1(ATP8B1):c.433C>T (p.Leu145=)
|
rs140634215
|
0.00047
|
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=)
|
rs201709328
|
0.00047
|
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)
|
rs147192139
|
0.00047
|
NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala)
|
rs147012050
|
0.00047
|
NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val)
|
rs140126185
|
0.00047
|
NM_005120.3(MED12):c.2613G>A (p.Gln871=)
|
rs372344160
|
0.00047
|
NM_005379.4(MYO1A):c.658C>T (p.Arg220Trp)
|
rs144009842
|
0.00047
|
NM_005477.3(HCN4):c.1371+9G>A
|
rs200303699
|
0.00047
|
NM_006031.6(PCNT):c.2610-8T>C
|
rs377164652
|
0.00047
|
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)
|
rs146993892
|
0.00047
|
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)
|
rs3739173
|
0.00047
|
NM_007254.4(PNKP):c.519C>T (p.Asp173=)
|
rs144284975
|
0.00047
|
NM_012254.3(SLC27A5):c.513C>G (p.Ala171=)
|
rs139127895
|
0.00047
|
NM_012254.3(SLC27A5):c.524C>T (p.Thr175Ile)
|
rs150780205
|
0.00047
|
NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=)
|
rs61753580
|
0.00047
|
NM_014251.3(SLC25A13):c.1618C>T (p.Pro540Ser)
|
rs75622628
|
0.00047
|
NM_024426.6(WT1):c.1131T>C (p.Pro377=)
|
rs151034312
|
0.00047
|
NM_032382.5(COG8):c.597C>T (p.Asn199=)
|
rs113642086
|
0.00047
|
NM_033337.3(CAV3):c.276C>T (p.Phe92=)
|
rs72546669
|
0.00047
|
NM_152618.3(BBS12):c.979T>A (p.Ser327Thr)
|
rs116805550
|
0.00047
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00046
|
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=)
|
rs373495082
|
0.00046
|
NM_000283.4(PDE6B):c.267C>T (p.Ala89=)
|
rs147181781
|
0.00046
|
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
|
rs113042313
|
0.00046
|
NM_000489.6(ATRX):c.4120+4A>C
|
rs200420513
|
0.00046
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00046
|
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met)
|
rs145044872
|
0.00046
|
NM_001128178.3(NPHP1):c.771+134G>A
|
rs140151060
|
0.00046
|
NM_001128228.3(TPRN):c.1468G>A (p.Val490Met)
|
rs144139211
|
0.00046
|
NM_001130987.2(DYSF):c.978A>T (p.Thr326=)
|
rs112007817
|
0.00046
|
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)
|
rs186624523
|
0.00046
|
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)
|
rs72648947
|
0.00046
|
NM_001267550.2(TTN):c.31763-1G>A
|
rs202234172
|
0.00046
|
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu)
|
rs398124448
|
0.00046
|
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg)
|
rs371943746
|
0.00046
|
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)
|
rs200650668
|
0.00046
|
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu)
|
rs369440319
|
0.00046
|
NM_001267550.2(TTN):c.65276-8T>C
|
rs377484398
|
0.00046
|
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His)
|
rs73036368
|
0.00046
|
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=)
|
rs146261351
|
0.00046
|
NM_001372044.2(SHANK3):c.4259C>T (p.Pro1420Leu)
|
rs73174429
|
0.00046
|
NM_001374385.1(ATP8B1):c.1433A>G (p.Asp478Gly)
|
rs200214627
|
0.00046
|
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser)
|
rs142718547
|
0.00046
|
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu)
|
rs149653283
|
0.00046
|
NM_004006.3(DMD):c.7243C>T (p.Arg2415Cys)
|
rs139395045
|
0.00046
|
NM_004369.4(COL6A3):c.3680-5C>T
|
rs370146203
|
0.00046
|
NM_004369.4(COL6A3):c.5139G>A (p.Gly1713=)
|
rs114338020
|
0.00046
|
NM_005045.4(RELN):c.1386C>T (p.Cys462=)
|
rs139321058
|
0.00046
|
NM_005045.4(RELN):c.7114G>A (p.Val2372Met)
|
rs114344654
|
0.00046
|
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro)
|
rs139838884
|
0.00046
|
NM_006204.4(PDE6C):c.219G>T (p.Gly73=)
|
rs140469169
|
0.00046
|
NM_006486.3(FBLN1):c.286G>A (p.Gly96Ser)
|
rs199802935
|
0.00046
|
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=)
|
rs199904356
|
0.00046
|
NM_015102.5(NPHP4):c.1935A>G (p.Leu645=)
|
rs200104274
|
0.00046
|
NM_015295.3(SMCHD1):c.789C>T (p.His263=)
|
rs374899324
|
0.00046
|
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=)
|
rs568700183
|
0.00046
|
NM_020320.5(RARS2):c.78A>C (p.Thr26=)
|
rs138360045
|
0.00046
|
NM_022436.3(ABCG5):c.99G>A (p.Pro33=)
|
rs149907931
|
0.00046
|
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)
|
rs146230559
|
0.00046
|
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=)
|
rs182990046
|
0.00046
|
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)
|
rs200955930
|
0.00046
|
NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys)
|
rs146685593
|
0.00046
|
NM_153676.4(USH1C):c.2265C>T (p.Leu755=)
|
rs151251262
|
0.00046
|
NM_153704.6(TMEM67):c.369C>T (p.Ala123=)
|
rs115640152
|
0.00046
|
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=)
|
rs369438374
|
0.00046
|
NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr)
|
rs143250090
|
0.00046
|
NM_201384.3(PLEC):c.10509G>A (p.Ala3503=)
|
rs189859084
|
0.00046
|
NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr)
|
rs781946435
|
0.00046
|
NM_201384.3(PLEC):c.5874G>A (p.Thr1958=)
|
rs185082202
|
0.00046
|
NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn)
|
rs371763907
|
0.00046
|
NM_201384.3(PLEC):c.8046C>T (p.Leu2682=)
|
rs375590561
|
0.00046
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00045
|
NM_000142.5(FGFR3):c.252G>A (p.Ser84=)
|
rs367973461
|
0.00045
|
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr)
|
rs147010346
|
0.00045
|
NM_000452.3(SLC10A2):c.785C>T (p.Thr262Met)
|
rs72547505
|
0.00045
|
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=)
|
rs184684058
|
0.00045
|
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys)
|
rs56175056
|
0.00045
|
NM_001042432.2(CLN3):c.831G>A (p.Val277=)
|
rs1142183
|
0.00045
|
NM_001061.7(TBXAS1):c.623C>G (p.Pro208Arg)
|
rs137946697
|
0.00045
|
NM_001077365.2(POMT1):c.1365+15C>T
|
rs58896330
|
0.00045
|
NM_001098671.2(RASGRP2):c.371+7G>T
|
rs181901181
|
0.00045
|
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe)
|
rs200334999
|
0.00045
|
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=)
|
rs142769942
|
0.00045
|
NM_001193315.2(VIPAS39):c.447+9C>T
|
rs145373891
|
0.00045
|
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)
|
rs200149062
|
0.00045
|
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)
|
rs200166942
|
0.00045
|
NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu)
|
rs139504522
|
0.00045
|
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile)
|
rs149059189
|
0.00045
|
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=)
|
rs374094732
|
0.00045
|
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys)
|
rs192843629
|
0.00045
|
NM_001374385.1(ATP8B1):c.2595C>T (p.Cys865=)
|
rs201885528
|
0.00045
|
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=)
|
rs200237564
|
0.00045
|
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr)
|
rs149276836
|
0.00045
|
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg)
|
rs76530653
|
0.00045
|
NM_003072.5(SMARCA4):c.2850C>T (p.Thr950=)
|
rs141259126
|
0.00045
|
NM_003289.4(TPM2):c.726C>T (p.Ala242=)
|
rs76414035
|
0.00045
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
NM_004006.3(DMD):c.2457A>C (p.Leu819=)
|
rs72468680
|
0.00045
|
NM_005996.4(TBX3):c.1290C>T (p.Gly430=)
|
rs369999628
|
0.00045
|
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr)
|
rs144900514
|
0.00045
|
NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp)
|
rs148752234
|
0.00045
|
NM_015340.4(LARS2):c.2203G>A (p.Val735Ile)
|
rs141011840
|
0.00045
|
NM_016239.4(MYO15A):c.858C>G (p.Pro286=)
|
rs200424851
|
0.00045
|
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn)
|
rs72650720
|
0.00045
|
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala)
|
rs140753861
|
0.00045
|
NM_021101.5(CLDN1):c.41C>T (p.Ala14Val)
|
rs141961866
|
0.00045
|
NM_021830.5(TWNK):c.384C>T (p.Ser128=)
|
rs148234280
|
0.00045
|
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys)
|
rs111033522
|
0.00045
|
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln)
|
rs201747452
|
0.00045
|
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp)
|
rs141140798
|
0.00045
|
NM_133379.5(TTN):c.12979A>G (p.Ile4327Val)
|
rs144226338
|
0.00045
|
NM_133379.5(TTN):c.16328T>C (p.Val5443Ala)
|
rs145183384
|
0.00045
|
NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser)
|
rs146102132
|
0.00045
|
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)
|
rs147774793
|
0.00044
|
NM_000078.3(CETP):c.940G>A (p.Glu314Lys)
|
rs140547417
|
0.00044
|
NM_000214.3(JAG1):c.1755C>T (p.Asn585=)
|
rs142808131
|
0.00044
|
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His)
|
rs148035987
|
0.00044
|
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)
|
rs61748434
|
0.00044
|
NM_000338.3(SLC12A1):c.1089A>G (p.Ala363=)
|
rs142646329
|
0.00044
|
NM_000392.5(ABCC2):c.4075A>C (p.Ile1359Leu)
|
rs142700351
|
0.00044
|
NM_000426.4(LAMA2):c.1645C>T (p.Pro549Ser)
|
rs139070796
|
0.00044
|
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly)
|
rs139042803
|
0.00044
|
NM_001061.7(TBXAS1):c.1520A>T (p.Glu507Val)
|
rs200663004
|
0.00044
|
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys)
|
rs199643269
|
0.00044
|
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys)
|
rs192152102
|
0.00044
|
NM_001351132.2(PEX5):c.552-7G>A
|
rs189631769
|
0.00044
|
NM_001849.4(COL6A2):c.426G>A (p.Thr142=)
|
rs149480738
|
0.00044
|
NM_004560.4(ROR2):c.234G>A (p.Thr78=)
|
rs141093530
|
0.00044
|
NM_004817.4(TJP2):c.2880+19C>T
|
rs200384355
|
0.00044
|
NM_005220.3(DLX3):c.853G>A (p.Ala285Thr)
|
rs148713638
|
0.00044
|
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys)
|
rs199638465
|
0.00044
|
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg)
|
rs148788926
|
0.00044
|
NM_007254.4(PNKP):c.672C>T (p.Arg224=)
|
rs151180981
|
0.00044
|
NM_015346.4(ZFYVE26):c.2799C>T (p.Leu933=)
|
rs146793500
|
0.00044
|
NM_018249.6(CDK5RAP2):c.4838G>A (p.Ser1613Asn)
|
rs202075321
|
0.00044
|
NM_020433.5(JPH2):c.1380G>A (p.Ala460=)
|
rs531877510
|
0.00044
|
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys)
|
rs147306623
|
0.00044
|
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)
|
rs199988872
|
0.00044
|
NM_080680.3(COL11A2):c.480T>G (p.Ser160=)
|
rs142969513
|
0.00044
|
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)
|
rs184770596
|
0.00044
|
NM_153717.3(EVC):c.1653G>A (p.Pro551=)
|
rs151293705
|
0.00044
|
NM_170682.4(P2RX2):c.947C>T (p.Thr316Met)
|
rs150293706
|
0.00044
|
NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg)
|
rs146668256
|
0.00044
|
NM_194248.3(OTOF):c.5829C>T (p.Ser1943=)
|
rs151005752
|
0.00044
|
NM_201384.3(PLEC):c.2704G>A (p.Asp902Asn)
|
rs199833127
|
0.00044
|
NM_201384.3(PLEC):c.4233G>A (p.Ala1411=)
|
rs2855760
|
0.00044
|
NM_201384.3(PLEC):c.5862C>T (p.Asn1954=)
|
rs550994317
|
0.00044
|
NM_201384.3(PLEC):c.6099G>A (p.Ala2033=)
|
rs375465011
|
0.00044
|
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met)
|
rs200434678
|
0.00044
|
NM_207346.3(TSEN54):c.537G>A (p.Pro179=)
|
rs113016401
|
0.00044
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)
|
rs80359810
|
0.00043
|
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu)
|
rs146582871
|
0.00043
|
NM_000235.4(LIPA):c.112-9T>C
|
rs200186130
|
0.00043
|
NM_000548.5(TSC2):c.3610+6G>A
|
rs45517301
|
0.00043
|
NM_000709.4(BCKDHA):c.288C>T (p.His96=)
|
rs148571328
|
0.00043
|
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=)
|
rs141153302
|
0.00043
|
NM_001083962.2(TCF4):c.341G>A (p.Arg114Lys)
|
rs139876825
|
0.00043
|
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr)
|
rs142595337
|
0.00043
|
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=)
|
rs375811590
|
0.00043
|
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu)
|
rs139411595
|
0.00043
|
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro)
|
rs398123574
|
0.00043
|
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)
|
rs72648971
|
0.00043
|
NM_001267550.2(TTN):c.33G>A (p.Pro11=)
|
rs138331646
|
0.00043
|
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val)
|
rs201348580
|
0.00043
|
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met)
|
rs201818223
|
0.00043
|
NM_001701.4(BAAT):c.-6A>T
|
rs181929679
|
0.00043
|
NM_002025.4(AFF2):c.1097A>G (p.His366Arg)
|
rs199574795
|
0.00043
|
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly)
|
rs145947380
|
0.00043
|
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)
|
rs143048583
|
0.00043
|
NM_004369.4(COL6A3):c.786C>T (p.Leu262=)
|
rs111481402
|
0.00043
|
NM_004463.3(FGD1):c.281A>G (p.His94Arg)
|
rs189159946
|
0.00043
|
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys)
|
rs146877597
|
0.00043
|
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val)
|
rs200225298
|
0.00043
|
NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser)
|
rs151221957
|
0.00043
|
NM_013382.7(POMT2):c.1404A>G (p.Lys468=)
|
rs150491326
|
0.00043
|
NM_020975.6(RET):c.1354C>A (p.Leu452Ile)
|
rs151148041
|
0.00043
|
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn)
|
rs148456883
|
0.00043
|
NM_033337.3(CAV3):c.417C>T (p.Val139=)
|
rs147250678
|
0.00043
|
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=)
|
rs202116866
|
0.00043
|
NM_201384.3(PLEC):c.1545C>T (p.Pro515=)
|
rs199968254
|
0.00043
|
NM_201384.3(PLEC):c.7062G>A (p.Ala2354=)
|
rs375587611
|
0.00043
|
NM_207361.6(FREM2):c.2754C>T (p.Val918=)
|
rs140353326
|
0.00043
|
NM_207391.3(RGS9BP):c.311C>T (p.Pro104Leu)
|
rs774841433
|
0.00043
|
NM_000138.5(FBN1):c.2148A>G (p.Gly716=)
|
rs141039922
|
0.00042
|
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser)
|
rs202063628
|
0.00042
|
NM_000540.3(RYR1):c.9385C>T (p.Leu3129Phe)
|
rs143445685
|
0.00042
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00042
|
NM_001048166.1(STIL):c.3156C>T (p.Ser1052=)
|
rs113337758
|
0.00042
|
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys)
|
rs121912712
|
0.00042
|
NM_001161352.2(KCNMA1):c.2965C>T (p.Arg989Cys)
|
rs143599540
|
0.00042
|
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)
|
rs144076460
|
0.00042
|
NM_001201543.2(FAM161A):c.1929A>G (p.Ser643=)
|
rs369633003
|
0.00042
|
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)
|
rs201394117
|
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.55417A>G (p.Arg18473Gly)
|
rs72646822
|
0.00042
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met)
|
rs139572764
|
0.00042
|
NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg)
|
rs369040584
|
0.00042
|
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=)
|
rs35902379
|
0.00042
|
NM_001909.5(CTSD):c.75G>A (p.Pro25=)
|
rs140563067
|
0.00042
|
NM_002335.4(LRP5):c.1585-9G>A
|
rs202067798
|
0.00042
|
NM_002335.4(LRP5):c.2324T>C (p.Ile775Thr)
|
rs144983823
|
0.00042
|
NM_002857.4(PEX19):c.255G>A (p.Ala85=)
|
rs150928521
|
0.00042
|
NM_003482.4(KMT2D):c.14643+12G>A
|
rs186670730
|
0.00042
|
NM_004006.3(DMD):c.2824A>G (p.Met942Val)
|
rs371648742
|
0.00042
|
NM_006031.6(PCNT):c.9594G>A (p.Thr3198=)
|
rs143776463
|
0.00042
|
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)
|
rs139145143
|
0.00042
|
NM_017739.4(POMGNT1):c.421-7C>A
|
rs189274856
|
0.00042
|
NM_017777.4(MKS1):c.118C>T (p.His40Tyr)
|
rs199832333
|
0.00042
|
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly)
|
rs202106463
|
0.00042
|
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser)
|
rs35116188
|
0.00042
|
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser)
|
rs72648909
|
0.00042
|
NM_139125.4(MASP1):c.1143T>C (p.Ser381=)
|
rs141985299
|
0.00042
|
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser)
|
rs146460917
|
0.00042
|
NM_173660.5(DOK7):c.1029C>T (p.Gly343=)
|
rs375877997
|
0.00042
|
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)
|
rs553968087
|
0.00042
|
NM_201384.3(PLEC):c.963C>T (p.Phe321=)
|
rs368425406
|
0.00042
|
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)
|
rs113950465
|
0.00041
|
NM_000137.4(FAH):c.243G>A (p.Ala81=)
|
rs36122289
|
0.00041
|
NM_000214.3(JAG1):c.814G>A (p.Val272Ile)
|
rs148990028
|
0.00041
|
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)
|
rs150395645
|
0.00041
|
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys)
|
rs201195495
|
0.00041
|
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr)
|
rs200241993
|
0.00041
|
NM_000295.5(SERPINA1):c.-7A>G
|
rs559054925
|
0.00041
|
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser)
|
rs140963177
|
0.00041
|
NM_000337.6(SGCD):c.543T>G (p.Pro181=)
|
rs200451694
|
0.00041
|
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro)
|
rs377598226
|
0.00041
|
NM_000396.4(CTSK):c.684C>T (p.Pro228=)
|
rs142097792
|
0.00041
|
NM_000452.3(SLC10A2):c.415G>A (p.Gly139Arg)
|
rs200749358
|
0.00041
|
NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile)
|
rs147652186
|
0.00041
|
NM_001127222.2(CACNA1A):c.978+9T>C
|
rs111366222
|
0.00041
|
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=)
|
rs138980048
|
0.00041
|
NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=)
|
rs200703321
|
0.00041
|
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg)
|
rs200719359
|
0.00041
|
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser)
|
rs201728165
|
0.00041
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00041
|
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val)
|
rs201482015
|
0.00041
|
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)
|
rs146970027
|
0.00041
|
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)
|
rs72648212
|
0.00041
|
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met)
|
rs200899806
|
0.00041
|
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu)
|
rs202096200
|
0.00041
|
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser)
|
rs191697915
|
0.00041
|
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln)
|
rs192467838
|
0.00041
|
NM_002204.4(ITGA3):c.3046-4G>A
|
rs368305833
|
0.00041
|
NM_002471.4(MYH6):c.210T>C (p.Thr70=)
|
rs147397431
|
0.00041
|
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=)
|
rs143947828
|
0.00041
|
NM_003701.4(TNFSF11):c.591C>A (p.Ser197=)
|
rs151215329
|
0.00041
|
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met)
|
rs116505603
|
0.00041
|
NM_004817.4(TJP2):c.918C>T (p.Ile306=)
|
rs374523970
|
0.00041
|
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala)
|
rs149837553
|
0.00041
|
NM_005120.3(MED12):c.381G>A (p.Thr127=)
|
rs202125318
|
0.00041
|
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg)
|
rs374826256
|
0.00041
|
NM_012470.4(TNPO3):c.582T>C (p.Asp194=)
|
rs148885407
|
0.00041
|
NM_014391.3(ANKRD1):c.818T>C (p.Met273Thr)
|
rs183061595
|
0.00041
|
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser)
|
rs121918363
|
0.00041
|
NM_018136.5(ASPM):c.7551T>C (p.Tyr2517=)
|
rs149228705
|
0.00041
|
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly)
|
rs199794578
|
0.00041
|
NM_021625.5(TRPV4):c.1491+10C>T
|
rs201815805
|
0.00041
|
NM_024747.6(HPS6):c.2250G>A (p.Ser750=)
|
rs139161525
|
0.00041
|
NM_032888.4(COL27A1):c.364C>T (p.Arg122Cys)
|
rs372265305
|
0.00041
|
NM_080680.3(COL11A2):c.1720-4G>T
|
rs369678506
|
0.00041
|
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=)
|
rs34796823
|
0.00041
|
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=)
|
rs144418713
|
0.00041
|
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala)
|
rs41291047
|
0.00041
|
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly)
|
rs141214076
|
0.00041
|
NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr)
|
rs200361523
|
0.00041
|
NM_206933.4(USH2A):c.10470G>T (p.Val3490=)
|
rs201401001
|
0.00041
|
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp)
|
rs146646008
|
0.00040
|
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=)
|
rs146617004
|
0.00040
|
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys)
|
rs201733876
|
0.00040
|
NM_001083961.2(WDR62):c.3058G>A (p.Ala1020Thr)
|
rs144120866
|
0.00040
|
NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala)
|
rs375491094
|
0.00040
|
NM_001368067.1(LDB3):c.771G>A (p.Thr257=)
|
rs144445130
|
0.00040
|
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)
|
rs202111717
|
0.00040
|
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=)
|
rs146796009
|
0.00040
|
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)
|
rs140250347
|
0.00040
|
NM_003482.4(KMT2D):c.6235-6C>G
|
rs373858319
|
0.00040
|
NM_003482.4(KMT2D):c.7078C>G (p.Pro2360Ala)
|
rs376483324
|
0.00040
|
NM_004369.4(COL6A3):c.5839-3C>T
|
rs112825341
|
0.00040
|
NM_004937.3(CTNS):c.561+4C>T
|
rs111256750
|
0.00040
|
NM_006086.4(TUBB3):c.357G>A (p.Val119=)
|
rs34174718
|
0.00040
|
NM_006363.6(SEC23B):c.519G>A (p.Val173=)
|
rs138314893
|
0.00040
|
NM_006662.3(SRCAP):c.7853A>G (p.Asn2618Ser)
|
rs144476508
|
0.00040
|
NM_007254.4(PNKP):c.627G>A (p.Glu209=)
|
rs532550120
|
0.00040
|
NM_015102.5(NPHP4):c.3837C>T (p.Phe1279=)
|
rs375237454
|
0.00040
|
NM_015295.3(SMCHD1):c.1957-3C>T
|
rs201069969
|
0.00040
|
NM_017780.4(CHD7):c.2751G>A (p.Thr917=)
|
rs369429961
|
0.00040
|
NM_018668.5(VPS33B):c.1207T>C (p.Leu403=)
|
rs139655526
|
0.00040
|
NM_019066.5(MAGEL2):c.1175C>T (p.Thr392Met)
|
rs781777662
|
0.00040
|
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser)
|
rs760039339
|
0.00040
|
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=)
|
rs201490643
|
0.00040
|
NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr)
|
rs369777874
|
0.00040
|
NM_130837.3(OPA1):c.2421G>T (p.Leu807=)
|
rs148047706
|
0.00040
|
NM_138694.4(PKHD1):c.129T>C (p.Asp43=)
|
rs201195801
|
0.00040
|
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=)
|
rs146759786
|
0.00040
|
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)
|
rs142486910
|
0.00040
|
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=)
|
rs111511993
|
0.00040
|
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln)
|
rs141883764
|
0.00040
|
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=)
|
rs139525746
|
0.00040
|
NM_201384.3(PLEC):c.13071C>T (p.Cys4357=)
|
rs202153947
|
0.00040
|
NM_201384.3(PLEC):c.8613C>T (p.Cys2871=)
|
rs35821434
|
0.00040
|
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser)
|
rs34447581
|
0.00040
|
NM_000026.4(ADSL):c.270T>C (p.Ala90=)
|
rs143275316
|
0.00039
|
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=)
|
rs138357977
|
0.00039
|
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val)
|
rs140048578
|
0.00039
|
NM_000195.5(HPS1):c.700C>T (p.Leu234=)
|
rs150444975
|
0.00039
|
NM_000235.4(LIPA):c.891C>T (p.Ser297=)
|
rs145066614
|
0.00039
|
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile)
|
rs45471994
|
0.00039
|
NM_000392.5(ABCC2):c.1007C>T (p.Thr336Met)
|
rs149854486
|
0.00039
|
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3])
|
rs398123469
|
0.00039
|
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met)
|
rs146157131
|
0.00039
|
NM_001039213.4(CEACAM16):c.869C>T (p.Thr290Met)
|
rs61729706
|
0.00039
|
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)
|
rs201206239
|
0.00039
|
NM_001126121.2(SLC25A19):c.750G>A (p.Glu250=)
|
rs147904037
|
0.00039
|
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)
|
rs141763330
|
0.00039
|
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu)
|
rs185913848
|
0.00039
|
NM_001369268.1(ACAN):c.185C>A (p.Thr62Asn)
|
rs200239326
|
0.00039
|
NM_001558.4(IL10RA):c.1260G>A (p.Ser420=)
|
rs199604463
|
0.00039
|
NM_001853.4(COL9A3):c.1602C>T (p.Ser534=)
|
rs146578812
|
0.00039
|
NM_002098.6(GUCA1B):c.476-3C>T
|
rs200457582
|
0.00039
|
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser)
|
rs138991195
|
0.00039
|
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)
|
rs146024732
|
0.00039
|
NM_003049.4(SLC10A1):c.994G>C (p.Gly332Arg)
|
rs201537069
|
0.00039
|
NM_004369.4(COL6A3):c.8193A>C (p.Pro2731=)
|
rs140441798
|
0.00039
|
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)
|
rs141845119
|
0.00039
|
NM_005097.4(LGI1):c.717A>C (p.Ile239=)
|
rs146425212
|
0.00039
|
NM_005120.3(MED12):c.653C>T (p.Thr218Met)
|
rs369083173
|
0.00039
|
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln)
|
rs147286334
|
0.00039
|
NM_006420.3(ARFGEF2):c.1233C>T (p.Leu411=)
|
rs147617265
|
0.00039
|
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)
|
rs75746974
|
0.00039
|
NM_015295.3(SMCHD1):c.5024A>G (p.His1675Arg)
|
rs201071071
|
0.00039
|
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu)
|
rs150654176
|
0.00039
|
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr)
|
rs140311741
|
0.00039
|
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp)
|
rs200346497
|
0.00039
|
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)
|
rs370906851
|
0.00039
|
NM_032119.4(ADGRV1):c.357+8C>T
|
rs376004946
|
0.00039
|
NM_058246.4(DNAJB6):c.831T>G (p.Ser277=)
|
rs369098407
|
0.00039
|
NM_130837.3(OPA1):c.2610C>T (p.Thr870=)
|
rs139934030
|
0.00039
|
NM_138694.4(PKHD1):c.12198C>T (p.His4066=)
|
rs147051900
|
0.00039
|
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu)
|
rs199626372
|
0.00038
|
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=)
|
rs139070070
|
0.00038
|
NM_000152.5(GAA):c.600C>T (p.Val200=)
|
rs150895924
|
0.00038
|
NM_000392.5(ABCC2):c.150C>T (p.His50=)
|
rs200595851
|
0.00038
|
NM_000392.5(ABCC2):c.3648C>A (p.Asn1216Lys)
|
rs144967259
|
0.00038
|
NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser)
|
rs145107955
|
0.00038
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
NM_000493.4(COL10A1):c.1927G>A (p.Asp643Asn)
|
rs201121404
|
0.00038
|
NM_001081.4(CUBN):c.9236+8A>G
|
rs372673718
|
0.00038
|
NM_001083961.2(WDR62):c.82C>T (p.Arg28Trp)
|
rs200283315
|
0.00038
|
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)
|
rs145038571
|
0.00038
|
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=)
|
rs138985089
|
0.00038
|
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu)
|
rs373946758
|
0.00038
|
NM_001164508.2(NEB):c.4299+7A>G
|
rs373926259
|
0.00038
|
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His)
|
rs201604061
|
0.00038
|
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)
|
rs72648940
|
0.00038
|
NM_001267550.2(TTN):c.180T>C (p.Asp60=)
|
rs144750850
|
0.00038
|
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)
|
rs202089818
|
0.00038
|
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)
|
rs201738153
|
0.00038
|
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln)
|
rs201622536
|
0.00038
|
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)
|
rs202094100
|
0.00038
|
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln)
|
rs370390570
|
0.00038
|
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)
|
rs72648278
|
0.00038
|
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
|
rs143477661
|
0.00038
|
NM_001429.4(EP300):c.739A>G (p.Met247Val)
|
rs147583157
|
0.00038
|
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp)
|
rs9282830
|
0.00038
|
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=)
|
rs201087979
|
0.00038
|
NM_004006.3(DMD):c.5181A>T (p.Ile1727=)
|
rs200887855
|
0.00038
|
NM_004369.4(COL6A3):c.1056C>T (p.Leu352=)
|
rs78365682
|
0.00038
|
NM_004369.4(COL6A3):c.1131C>T (p.Phe377=)
|
rs189772397
|
0.00038
|
NM_004369.4(COL6A3):c.4900+9C>T
|
rs117345850
|
0.00038
|
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu)
|
rs200716582
|
0.00038
|
NM_004625.4(WNT7A):c.1028C>T (p.Thr343Met)
|
rs140491601
|
0.00038
|
NM_005045.4(RELN):c.5136G>A (p.Thr1712=)
|
rs147933593
|
0.00038
|
NM_005476.7(GNE):c.2004C>T (p.Ser668=)
|
rs150045137
|
0.00038
|
NM_005559.4(LAMA1):c.6845T>C (p.Ile2282Thr)
|
rs146148365
|
0.00038
|
NM_006907.4(PYCR1):c.540C>T (p.Tyr180=)
|
rs150914837
|
0.00038
|
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val)
|
rs148065361
|
0.00038
|
NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg)
|
rs139531639
|
0.00038
|
NM_015102.5(NPHP4):c.1478C>T (p.Pro493Leu)
|
rs201801114
|
0.00038
|
NM_015965.7(NDUFA13):c.45C>A (p.Gly15=)
|
rs183288709
|
0.00038
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
0.00038
|
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala)
|
rs533729683
|
0.00038
|
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=)
|
rs149711133
|
0.00038
|
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=)
|
rs141016088
|
0.00038
|
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)
|
rs201857437
|
0.00038
|
NM_030665.4(RAI1):c.1941C>T (p.Ser647=)
|
rs140198185
|
0.00038
|
NM_058246.4(DNAJB6):c.48C>T (p.Pro16=)
|
rs150583876
|
0.00038
|
NM_138694.4(PKHD1):c.1234-9T>C
|
rs200707468
|
0.00038
|
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)
|
rs143737660
|
0.00038
|
NM_173630.4(RTTN):c.1301A>C (p.Asp434Ala)
|
rs8083708
|
0.00038
|
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=)
|
rs141202420
|
0.00038
|
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=)
|
rs139480065
|
0.00038
|
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys)
|
rs538589589
|
0.00038
|
NM_201384.3(PLEC):c.12718G>A (p.Ala4240Thr)
|
rs201688261
|
0.00038
|
NM_201384.3(PLEC):c.759C>T (p.Thr253=)
|
rs377118309
|
0.00038
|
NM_000214.3(JAG1):c.1920C>T (p.Asn640=)
|
rs372121353
|
0.00037
|
NM_000388.4(CASR):c.2064C>T (p.Phe688=)
|
rs150869744
|
0.00037
|
NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=)
|
rs62421010
|
0.00037
|
NM_000492.4(CFTR):c.1766+73T>G
|
rs397508299
|
0.00037
|
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)
|
rs121912775
|
0.00037
|
NM_000780.4(CYP7A1):c.123C>T (p.Tyr41=)
|
rs150351766
|
0.00037
|
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)
|
rs138596741
|
0.00037
|
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn)
|
rs143186270
|
0.00037
|
NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys)
|
rs199761901
|
0.00037
|
NM_001360.3(DHCR7):c.582C>T (p.Phe194=)
|
rs150603941
|
0.00037
|
NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg)
|
rs773925755
|
0.00037
|
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=)
|
rs189914793
|
0.00037
|
NM_002529.4(NTRK1):c.*6C>T
|
rs370807813
|
0.00037
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
NM_006922.4(SCN3A):c.5469T>A (p.Pro1823=)
|
rs368608408
|
0.00037
|
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=)
|
rs375251871
|
0.00037
|
NM_018136.5(ASPM):c.2263G>A (p.Ala755Thr)
|
rs150852085
|
0.00037
|
NM_025114.4(CEP290):c.943-8A>T
|
rs200729812
|
0.00037
|
NM_030973.4(MED25):c.135-6T>G
|
rs199743509
|
0.00037
|
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)
|
rs200792658
|
0.00037
|
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu)
|
rs139668636
|
0.00037
|
NM_213599.3(ANO5):c.720G>T (p.Leu240=)
|
rs147121216
|
0.00037
|
NM_000232.5(SGCB):c.768C>T (p.Ile256=)
|
rs149121189
|
0.00036
|
NM_000463.3(UGT1A1):c.159G>A (p.Arg53=)
|
rs149071335
|
0.00036
|
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)
|
rs147723844
|
0.00036
|
NM_001083962.2(TCF4):c.504A>G (p.Val168=)
|
rs370160994
|
0.00036
|
NM_001130987.2(DYSF):c.3086-9C>T
|
rs185350547
|
0.00036
|
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=)
|
rs148055736
|
0.00036
|
NM_001134407.3(GRIN2A):c.666C>T (p.Ile222=)
|
rs143594020
|
0.00036
|
NM_001134407.3(GRIN2A):c.741C>T (p.Gly247=)
|
rs141912603
|
0.00036
|
NM_001145308.5(LRTOMT):c.695C>T (p.Ala232Val)
|
rs540371915
|
0.00036
|
NM_001145809.2(MYH14):c.1115-4C>T
|
rs142696359
|
0.00036
|
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile)
|
rs144691638
|
0.00036
|
NM_001170629.2(CHD8):c.4304A>T (p.His1435Leu)
|
rs199879706
|
0.00036
|
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln)
|
rs200161147
|
0.00036
|
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile)
|
rs190421400
|
0.00036
|
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)
|
rs55850344
|
0.00036
|
NM_001267550.2(TTN):c.92241T>C (p.Gly30747=)
|
rs373311745
|
0.00036
|
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His)
|
rs149755500
|
0.00036
|
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)
|
rs150682314
|
0.00036
|
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=)
|
rs144941725
|
0.00036
|
NM_001378414.1(HDAC4):c.2190G>A (p.Thr730=)
|
rs149067286
|
0.00036
|
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val)
|
rs200075429
|
0.00036
|
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=)
|
rs372671421
|
0.00036
|
NM_001851.6(COL9A1):c.1130G>A (p.Arg377His)
|
rs142328549
|
0.00036
|
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr)
|
rs151249006
|
0.00036
|
NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val)
|
rs140461295
|
0.00036
|
NM_002381.5(MATN3):c.330C>T (p.Ile110=)
|
rs201755444
|
0.00036
|
NM_002427.4(MMP13):c.438C>T (p.Ser146=)
|
rs17860530
|
0.00036
|
NM_002693.3(POLG):c.131A>G (p.Gln44Arg)
|
rs757120802
|
0.00036
|
NM_003482.4(KMT2D):c.11037A>G (p.Gln3679=)
|
rs374418866
|
0.00036
|
NM_003640.5(ELP1):c.2217A>G (p.Lys739=)
|
rs139583037
|
0.00036
|
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=)
|
rs201881755
|
0.00036
|
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)
|
rs142807436
|
0.00036
|
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)
|
rs141259922
|
0.00036
|
NM_005476.7(GNE):c.1509C>G (p.Pro503=)
|
rs141172610
|
0.00036
|
NM_005477.3(HCN4):c.2181C>T (p.His727=)
|
rs140354126
|
0.00036
|
NM_006059.4(LAMC3):c.1019G>A (p.Arg340Gln)
|
rs149004188
|
0.00036
|
NM_006516.4(SLC2A1):c.498C>T (p.Val166=)
|
rs150971143
|
0.00036
|
NM_014780.5(CUL7):c.3432G>A (p.Thr1144=)
|
rs144556973
|
0.00036
|
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=)
|
rs374003717
|
0.00036
|
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)
|
rs199828744
|
0.00036
|
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)
|
rs200128474
|
0.00036
|
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys)
|
rs75262191
|
0.00036
|
NM_020822.3(KCNT1):c.885G>A (p.Ala295=)
|
rs142756900
|
0.00036
|
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=)
|
rs146046068
|
0.00036
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)
|
rs200789563
|
0.00036
|
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=)
|
rs376636949
|
0.00036
|
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg)
|
rs142304137
|
0.00036
|
NM_144672.4(OTOA):c.1173G>A (p.Ser391=)
|
rs143326637
|
0.00036
|
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu)
|
rs144989330
|
0.00036
|
NM_182961.4(SYNE1):c.15657+5T>A
|
rs199779021
|
0.00036
|
NM_194248.3(OTOF):c.5292-9C>T
|
rs372713647
|
0.00036
|
NM_201384.3(PLEC):c.8871G>A (p.Lys2957=)
|
rs368326361
|
0.00036
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)
|
rs139968089
|
0.00035
|
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)
|
rs150728610
|
0.00035
|
NM_000208.4(INSR):c.151G>A (p.Glu51Lys)
|
rs140852238
|
0.00035
|
NM_000260.4(MYO7A):c.849+7C>G
|
rs370740228
|
0.00035
|
NM_000492.4(CFTR):c.1920T>C (p.Phe640=)
|
rs145877746
|
0.00035
|
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met)
|
rs74772771
|
0.00035
|
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=)
|
rs188888939
|
0.00035
|
NM_001083961.2(WDR62):c.2976G>A (p.Ser992=)
|
rs757294519
|
0.00035
|
NM_001184880.2(PCDH19):c.2617-7A>G
|
rs370859689
|
0.00035
|
NM_001242957.3(MAK):c.1405G>A (p.Glu469Lys)
|
rs149006687
|
0.00035
|
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)
|
rs72648943
|
0.00035
|
NM_001267550.2(TTN):c.2599A>G (p.Ser867Gly)
|
rs148631577
|
0.00035
|
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)
|
rs200001206
|
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_001291303.3(FAT4):c.5367C>T (p.Ile1789=)
|
rs144922340
|
0.00035
|
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=)
|
rs374452942
|
0.00035
|
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=)
|
rs151312595
|
0.00035
|
NM_001365276.2(TNXB):c.2927G>A (p.Arg976His)
|
rs200771983
|
0.00035
|
NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=)
|
rs201430964
|
0.00035
|
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile)
|
rs145475623
|
0.00035
|
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=)
|
rs371988852
|
0.00035
|
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=)
|
rs12246234
|
0.00035
|
NM_001701.4(BAAT):c.403C>G (p.Pro135Ala)
|
rs138613717
|
0.00035
|
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=)
|
rs150237416
|
0.00035
|
NM_004006.3(DMD):c.7321A>C (p.Thr2441Pro)
|
rs146817002
|
0.00035
|
NM_004006.3(DMD):c.9564-5A>G
|
rs201390145
|
0.00035
|
NM_004385.5(VCAN):c.5859G>T (p.Thr1953=)
|
rs80028865
|
0.00035
|
NM_004656.4(BAP1):c.1035G>C (p.Gly345=)
|
rs369744075
|
0.00035
|
NM_004698.4(PRPF3):c.1032A>G (p.Thr344=)
|
rs143350315
|
0.00035
|
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)
|
rs143142641
|
0.00035
|
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=)
|
rs141439475
|
0.00035
|
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu)
|
rs201689819
|
0.00035
|
NM_017433.5(MYO3A):c.1248A>G (p.Gln416=)
|
rs143749728
|
0.00035
|
NM_017534.6(MYH2):c.3000G>A (p.Lys1000=)
|
rs573063758
|
0.00035
|
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)
|
rs138330966
|
0.00035
|
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)
|
rs41272437
|
0.00035
|
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile)
|
rs147551342
|
0.00035
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)
|
rs150890296
|
0.00035
|
NM_022437.3(ABCG8):c.729C>T (p.Leu243=)
|
rs145482605
|
0.00035
|
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=)
|
rs377369857
|
0.00035
|
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu)
|
rs201388114
|
0.00035
|
NM_032575.3(GLIS2):c.239A>T (p.Asp80Val)
|
rs144447862
|
0.00035
|
NM_054027.6(ANKH):c.1141+5A>G
|
rs187972211
|
0.00035
|
NM_201384.3(PLEC):c.10716C>T (p.Ile3572=)
|
rs34365303
|
0.00035
|
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln)
|
rs782590380
|
0.00035
|
NM_201384.3(PLEC):c.8442C>T (p.Gly2814=)
|
rs186703073
|
0.00035
|
NM_201525.4(ADGRG1):c.1356G>A (p.Thr452=)
|
rs151020094
|
0.00035
|
NM_000057.4(BLM):c.1467G>A (p.Arg489=)
|
rs56257041
|
0.00034
|
NM_000059.4(BRCA2):c.322A>C (p.Asn108His)
|
rs80358567
|
0.00034
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00034
|
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp)
|
rs370338674
|
0.00034
|
NM_000414.4(HSD17B4):c.1138A>G (p.Ile380Val)
|
rs137946207
|
0.00034
|
NM_000433.4(NCF2):c.93C>T (p.Ala31=)
|
rs143889676
|
0.00034
|
NM_000466.3(PEX1):c.1360-4G>T
|
rs199716270
|
0.00034
|
NM_000466.3(PEX1):c.939T>C (p.His313=)
|
rs199647157
|
0.00034
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
NM_000501.4(ELN):c.647G>T (p.Gly216Val)
|
rs145612009
|
0.00034
|
NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys)
|
rs140202512
|
0.00034
|
NM_000548.5(TSC2):c.681C>T (p.Cys227=)
|
rs45443205
|
0.00034
|
NM_000660.7(TGFB1):c.887G>A (p.Arg296Gln)
|
rs200164212
|
0.00034
|
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=)
|
rs144455258
|
0.00034
|
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=)
|
rs201200430
|
0.00034
|
NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=)
|
rs116122164
|
0.00034
|
NM_001267550.2(TTN):c.16515T>C (p.Ser5505=)
|
rs201625116
|
0.00034
|
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met)
|
rs199793620
|
0.00034
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val)
|
rs199508062
|
0.00034
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00034
|
NM_001848.3(COL6A1):c.2187C>T (p.Asp729=)
|
rs369502543
|
0.00034
|
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=)
|
rs202132383
|
0.00034
|
NM_002906.4(RDX):c.1345-7T>C
|
rs142161673
|
0.00034
|
NM_003611.3(OFD1):c.276T>C (p.Ser92=)
|
rs201675886
|
0.00034
|
NM_003722.5(TP63):c.678C>T (p.Arg226=)
|
rs61732782
|
0.00034
|
NM_003742.4(ABCB11):c.930C>T (p.Phe310=)
|
rs372382608
|
0.00034
|
NM_003977.4(AIP):c.517G>A (p.Glu173Lys)
|
rs138902236
|
0.00034
|
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala)
|
rs138145424
|
0.00034
|
NM_006302.3(MOGS):c.499A>C (p.Arg167=)
|
rs371747622
|
0.00034
|
NM_006790.3(MYOT):c.120T>A (p.Ile40=)
|
rs139254363
|
0.00034
|
NM_012448.4(STAT5B):c.1569G>A (p.Arg523=)
|
rs143172354
|
0.00034
|
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=)
|
rs146156426
|
0.00034
|
NM_012470.4(TNPO3):c.275C>T (p.Thr92Ile)
|
rs61756250
|
0.00034
|
NM_014141.6(CNTNAP2):c.387A>G (p.Gln129=)
|
rs150607716
|
0.00034
|
NM_014780.5(CUL7):c.2682T>C (p.Ala894=)
|
rs138043979
|
0.00034
|
NM_015102.5(NPHP4):c.2811C>T (p.Ser937=)
|
rs758757125
|
0.00034
|
NM_020223.4(FAM20C):c.1152C>T (p.Ile384=)
|
rs373614292
|
0.00034
|
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys)
|
rs114719193
|
0.00034
|
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)
|
rs371522435
|
0.00034
|
NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile)
|
rs142462128
|
0.00034
|
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser)
|
rs184814386
|
0.00034
|
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu)
|
rs144949902
|
0.00034
|
NM_025114.4(CEP290):c.943-4C>T
|
rs199770158
|
0.00034
|
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)
|
rs201391886
|
0.00034
|
NM_033028.5(BBS4):c.1140G>A (p.Val380=)
|
rs141511580
|
0.00034
|
NM_133379.5(TTN):c.15575G>A (p.Arg5192Lys)
|
rs62179016
|
0.00034
|
NM_144991.3(TSPEAR):c.419C>A (p.Ala140Asp)
|
rs147904376
|
0.00034
|
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)
|
rs144797744
|
0.00034
|
NM_198525.3(KIF7):c.3021C>T (p.Ile1007=)
|
rs142488318
|
0.00034
|
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val)
|
rs199561332
|
0.00033
|
NM_000271.5(NPC1):c.180G>T (p.Gln60His)
|
rs145666943
|
0.00033
|
NM_000271.5(NPC1):c.3717C>T (p.His1239=)
|
rs34624018
|
0.00033
|
NM_000287.4(PEX6):c.-2C>G
|
rs376675730
|
0.00033
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00033
|
NM_000350.3(ABCA4):c.4401C>T (p.Ser1467=)
|
rs188775667
|
0.00033
|
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val)
|
rs145728297
|
0.00033
|
NM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys)
|
rs201117318
|
0.00033
|
NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=)
|
rs373050209
|
0.00033
|
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=)
|
rs182074603
|
0.00033
|
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)
|
rs145272777
|
0.00033
|
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=)
|
rs372083517
|
0.00033
|
NM_001193315.2(VIPAS39):c.558A>G (p.Glu186=)
|
rs148623263
|
0.00033
|
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)
|
rs200213832
|
0.00033
|
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser)
|
rs183013408
|
0.00033
|
NM_001374353.1(GLI2):c.2251C>T (p.Leu751=)
|
rs200831069
|
0.00033
|
NM_001851.6(COL9A1):c.2436G>T (p.Gln812His)
|
rs141830060
|
0.00033
|
NM_002076.4(GNS):c.4C>T (p.Arg2Trp)
|
rs200441930
|
0.00033
|
NM_002335.4(LRP5):c.144C>T (p.Ala48=)
|
rs776920568
|
0.00033
|
NM_002857.4(PEX19):c.402T>C (p.Ser134=)
|
rs139828188
|
0.00033
|
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val)
|
rs149924028
|
0.00033
|
NM_004369.4(COL6A3):c.9339G>A (p.Lys3113=)
|
rs113422196
|
0.00033
|
NM_005045.4(RELN):c.9825C>T (p.Ser3275=)
|
rs149713137
|
0.00033
|
NM_006941.4(SOX10):c.753G>A (p.Ser251=)
|
rs376907937
|
0.00033
|
NM_012463.4(ATP6V0A2):c.522-9G>A
|
rs189175284
|
0.00033
|
NM_013275.6(ANKRD11):c.1133A>G (p.Asn378Ser)
|
rs202203523
|
0.00033
|
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=)
|
rs140724142
|
0.00033
|
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr)
|
rs149692177
|
0.00033
|
NM_170699.3(GPBAR1):c.562G>A (p.Val188Met)
|
rs199637113
|
0.00033
|
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys)
|
rs149354607
|
0.00033
|
NM_201384.3(PLEC):c.7584G>A (p.Gln2528=)
|
rs372858742
|
0.00033
|
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu)
|
rs147879224
|
0.00033
|
NM_000035.4(ALDOB):c.681C>T (p.Thr227=)
|
rs61757689
|
0.00032
|
NM_000038.6(APC):c.2232T>G (p.Ser744=)
|
rs145751759
|
0.00032
|
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)
|
rs150226817
|
0.00032
|
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)
|
rs138867099
|
0.00032
|
NM_000214.3(JAG1):c.2604T>C (p.Ser868=)
|
rs138189639
|
0.00032
|
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser)
|
rs201251963
|
0.00032
|
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=)
|
rs377388669
|
0.00032
|
NM_000392.5(ABCC2):c.339G>A (p.Leu113=)
|
rs151304543
|
0.00032
|
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=)
|
rs140609193
|
0.00032
|
NM_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00032
|
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg)
|
rs200588235
|
0.00032
|
NM_001008215.3(COA5):c.*3C>G
|
rs372867268
|
0.00032
|
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala)
|
rs184769423
|
0.00032
|
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=)
|
rs145412880
|
0.00032
|
NM_001191061.2(SLC25A22):c.413-8G>C
|
rs376015598
|
0.00032
|
NM_001267550.2(TTN):c.156C>T (p.Pro52=)
|
rs72647842
|
0.00032
|
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)
|
rs72648990
|
0.00032
|
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)
|
rs184863287
|
0.00032
|
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn)
|
rs72646870
|
0.00032
|
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)
|
rs201381085
|
0.00032
|
NM_001267550.2(TTN):c.72723C>G (p.Val24241=)
|
rs372701206
|
0.00032
|
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser)
|
rs369941201
|
0.00032
|
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val)
|
rs201490050
|
0.00032
|
NM_001267550.2(TTN):c.86526T>G (p.Val28842=)
|
rs72648226
|
0.00032
|
NM_001292063.2(OTOG):c.7742C>T (p.Ala2581Val)
|
rs114417076
|
0.00032
|
NM_001360.3(DHCR7):c.927C>A (p.Gly309=)
|
rs149974099
|
0.00032
|
NM_001374385.1(ATP8B1):c.1438C>T (p.Arg480Trp)
|
rs142231389
|
0.00032
|
NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His)
|
rs374474061
|
0.00032
|
NM_001457.4(FLNB):c.4061+4G>A
|
rs370061963
|
0.00032
|
NM_001849.4(COL6A2):c.*4C>T
|
rs370155138
|
0.00032
|
NM_001849.4(COL6A2):c.225G>T (p.Pro75=)
|
rs143678454
|
0.00032
|
NM_002473.6(MYH9):c.1491C>T (p.Ile497=)
|
rs146487404
|
0.00032
|
NM_003673.4(TCAP):c.60C>G (p.Ala20=)
|
rs146502276
|
0.00032
|
NM_003722.5(TP63):c.1827A>G (p.Glu609=)
|
rs147538847
|
0.00032
|
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=)
|
rs140138979
|
0.00032
|
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)
|
rs727503828
|
0.00032
|
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser)
|
rs116283249
|
0.00032
|
NM_005333.5(HCCS):c.521C>T (p.Ala174Val)
|
rs367601527
|
0.00032
|
NM_005982.4(SIX1):c.402G>A (p.Lys134=)
|
rs151189392
|
0.00032
|
NM_006922.4(SCN3A):c.3087C>G (p.Ala1029=)
|
rs143360102
|
0.00032
|
NM_006922.4(SCN3A):c.5889T>C (p.Ser1963=)
|
rs146624492
|
0.00032
|
NM_014324.6(AMACR):c.247+8C>G
|
rs779779299
|
0.00032
|
NM_014425.5(INVS):c.118C>G (p.Leu40Val)
|
rs148219510
|
0.00032
|
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)
|
rs144860227
|
0.00032
|
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met)
|
rs184436336
|
0.00032
|
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn)
|
rs199899548
|
0.00032
|
NM_021072.4(HCN1):c.240C>A (p.Gly80=)
|
rs373664268
|
0.00032
|
NM_021098.3(CACNA1H):c.1844C>T (p.Thr615Met)
|
rs368976749
|
0.00032
|
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=)
|
rs370039255
|
0.00032
|
NM_024592.5(SRD5A3):c.51G>T (p.Ala17=)
|
rs201123766
|
0.00032
|
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)
|
rs36111204
|
0.00032
|
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=)
|
rs202066007
|
0.00032
|
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp)
|
rs368822172
|
0.00032
|
NM_138694.4(PKHD1):c.333C>T (p.Phe111=)
|
rs145815264
|
0.00032
|
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=)
|
rs149176010
|
0.00032
|
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=)
|
rs767239312
|
0.00032
|
NM_153033.5(KCTD7):c.273C>T (p.Ser91=)
|
rs139585796
|
0.00032
|
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln)
|
rs141586001
|
0.00032
|
NM_201384.3(PLEC):c.5930C>T (p.Ala1977Val)
|
rs398123401
|
0.00032
|
NM_201384.3(PLEC):c.6495G>A (p.Ala2165=)
|
rs201462310
|
0.00032
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
NM_000295.5(SERPINA1):c.924C>T (p.Ala308=)
|
rs138611390
|
0.00031
|
NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=)
|
rs202194703
|
0.00031
|
NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=)
|
rs77053118
|
0.00031
|
NM_001018113.3(FANCB):c.1371C>T (p.Val457=)
|
rs149695930
|
0.00031
|
NM_001039213.4(CEACAM16):c.589G>A (p.Gly197Ser)
|
rs367891074
|
0.00031
|
NM_001077365.2(POMT1):c.855+6T>C
|
rs200692465
|
0.00031
|
NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr)
|
rs148615988
|
0.00031
|
NM_001110219.3(GJB6):c.177A>G (p.Gly59=)
|
rs371123633
|
0.00031
|
NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=)
|
rs149647577
|
0.00031
|
NM_001252024.2(TRPM1):c.2701-10T>A
|
rs201747375
|
0.00031
|
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=)
|
rs377391143
|
0.00031
|
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile)
|
rs146000949
|
0.00031
|
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp)
|
rs202234492
|
0.00031
|
NM_001267550.2(TTN):c.26019C>T (p.His8673=)
|
rs370266918
|
0.00031
|
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)
|
rs181189778
|
0.00031
|
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)
|
rs201358641
|
0.00031
|
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)
|
rs199512049
|
0.00031
|
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=)
|
rs372382315
|
0.00031
|
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro)
|
rs186273940
|
0.00031
|
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)
|
rs72648221
|
0.00031
|
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His)
|
rs141817409
|
0.00031
|
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=)
|
rs373296447
|
0.00031
|
NM_001457.4(FLNB):c.7254C>T (p.Ser2418=)
|
rs563382903
|
0.00031
|
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)
|
rs145172612
|
0.00031
|
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly)
|
rs149338158
|
0.00031
|
NM_001848.3(COL6A1):c.531C>T (p.Asn177=)
|
rs767176038
|
0.00031
|
NM_002335.4(LRP5):c.1818G>A (p.Ala606=)
|
rs148603249
|
0.00031
|
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys)
|
rs143396225
|
0.00031
|
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)
|
rs138059405
|
0.00031
|
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)
|
rs551708243
|
0.00031
|
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala)
|
rs560217758
|
0.00031
|
NM_003995.4(NPR2):c.3087A>C (p.Gly1029=)
|
rs138254005
|
0.00031
|
NM_004086.3(COCH):c.272G>A (p.Arg91Gln)
|
rs188283330
|
0.00031
|
NM_004369.4(COL6A3):c.6654G>A (p.Pro2218=)
|
rs147537071
|
0.00031
|
NM_004385.5(VCAN):c.3957C>A (p.His1319Gln)
|
rs143393049
|
0.00031
|
NM_004994.3(MMP9):c.1591C>T (p.Leu531=)
|
rs141884644
|
0.00031
|
NM_005559.4(LAMA1):c.8447G>A (p.Arg2816Gln)
|
rs200996196
|
0.00031
|
NM_006086.4(TUBB3):c.507C>T (p.Val169=)
|
rs373718068
|
0.00031
|
NM_006182.4(DDR2):c.720C>T (p.Asp240=)
|
rs141801107
|
0.00031
|
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)
|
rs145061343
|
0.00031
|
NM_014425.5(INVS):c.2278T>G (p.Ser760Ala)
|
rs146901872
|
0.00031
|
NM_014780.5(CUL7):c.3273G>A (p.Ser1091=)
|
rs144269675
|
0.00031
|
NM_015166.4(MLC1):c.598-9C>T
|
rs200463656
|
0.00031
|
NM_015443.4(KANSL1):c.2725-7A>G
|
rs186818985
|
0.00031
|
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser)
|
rs201540919
|
0.00031
|
NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn)
|
rs142537154
|
0.00031
|
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly)
|
rs190693455
|
0.00031
|
NM_020436.5(SALL4):c.1630C>T (p.Pro544Ser)
|
rs150402866
|
0.00031
|
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)
|
rs370074117
|
0.00031
|
NM_022436.3(ABCG5):c.442C>T (p.Leu148=)
|
rs143444046
|
0.00031
|
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg)
|
rs190988309
|
0.00031
|
NM_032806.6(POMGNT2):c.780A>G (p.Ser260=)
|
rs371749889
|
0.00031
|
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys)
|
rs143578863
|
0.00031
|
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser)
|
rs147143947
|
0.00031
|
NM_198239.2(CCN6):c.219A>T (p.Gly73=)
|
rs139375158
|
0.00031
|
NM_201384.3(PLEC):c.2536G>A (p.Gly846Ser)
|
rs189233521
|
0.00031
|
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His)
|
rs201916690
|
0.00031
|
NM_000093.5(COL5A1):c.3906+10C>T
|
rs183881247
|
0.00030
|
NM_000180.4(GUCY2D):c.921C>T (p.Ala307=)
|
rs148136213
|
0.00030
|
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr)
|
rs369704754
|
0.00030
|
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met)
|
rs73790880
|
0.00030
|
NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr)
|
rs199960807
|
0.00030
|
NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=)
|
rs55821172
|
0.00030
|
NM_001048166.1(STIL):c.1005A>G (p.Glu335=)
|
rs149296029
|
0.00030
|
NM_001110556.2(FLNA):c.1691+7C>A
|
rs199565118
|
0.00030
|
NM_001200.4(BMP2):c.891G>A (p.Lys297=)
|
rs147542801
|
0.00030
|
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=)
|
rs372686070
|
0.00030
|
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=)
|
rs374168580
|
0.00030
|
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala)
|
rs372782502
|
0.00030
|
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)
|
rs180828370
|
0.00030
|
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu)
|
rs200181804
|
0.00030
|
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser)
|
rs75022916
|
0.00030
|
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His)
|
rs72648251
|
0.00030
|
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)
|
rs202064385
|
0.00030
|
NM_001379081.2(FREM1):c.6021C>G (p.Pro2007=)
|
rs200987019
|
0.00030
|
NM_001733.7(C1R):c.277G>T (p.Gly93Cys)
|
rs200185988
|
0.00030
|
NM_001848.3(COL6A1):c.666C>T (p.Arg222=)
|
rs372581026
|
0.00030
|
NM_001851.6(COL9A1):c.333C>T (p.Tyr111=)
|
rs141047907
|
0.00030
|
NM_001927.4(DES):c.924C>T (p.Asn308=)
|
rs578191306
|
0.00030
|
NM_004369.4(COL6A3):c.1623C>T (p.Ala541=)
|
rs114144694
|
0.00030
|
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)
|
rs587783504
|
0.00030
|
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr)
|
rs143274889
|
0.00030
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu)
|
rs201649896
|
0.00030
|
NM_015102.5(NPHP4):c.909C>T (p.Val303=)
|
rs201488441
|
0.00030
|
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys)
|
rs368682932
|
0.00030
|
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=)
|
rs528130317
|
0.00030
|
NM_139125.4(MASP1):c.910C>A (p.Leu304Ile)
|
rs145057248
|
0.00030
|
NM_147127.5(EVC2):c.2304G>C (p.Val768=)
|
rs139936564
|
0.00030
|
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=)
|
rs150121030
|
0.00030
|
NM_201384.3(PLEC):c.4469G>A (p.Arg1490Gln)
|
rs371290504
|
0.00030
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00029
|
NM_000214.3(JAG1):c.2043G>A (p.Thr681=)
|
rs151291264
|
0.00029
|
NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=)
|
rs36212064
|
0.00029
|
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)
|
rs201489714
|
0.00029
|
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=)
|
rs397516327
|
0.00029
|
NM_000287.4(PEX6):c.2700C>T (p.Asn900=)
|
rs533766104
|
0.00029
|
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)
|
rs200844292
|
0.00029
|
NM_000325.6(PITX2):c.639A>T (p.Ser213=)
|
rs141176394
|
0.00029
|
NM_000337.6(SGCD):c.510G>A (p.Glu170=)
|
rs368838376
|
0.00029
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
NM_000515.5(GH1):c.597C>G (p.Val199=)
|
rs142704768
|
0.00029
|
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr)
|
rs77710085
|
0.00029
|
NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu)
|
rs147956755
|
0.00029
|
NM_001048166.1(STIL):c.152+4T>C
|
rs368201717
|
0.00029
|
NM_001077365.2(POMT1):c.1698+10C>A
|
rs184131819
|
0.00029
|
NM_001083962.2(TCF4):c.790-9T>C
|
rs373434281
|
0.00029
|
NM_001127222.2(CACNA1A):c.5133+10G>A
|
rs369033909
|
0.00029
|
NM_001136193.2(FASTKD2):c.882-3C>T
|
rs41272661
|
0.00029
|
NM_001145809.2(MYH14):c.5452C>T (p.Arg1818Cys)
|
rs377096949
|
0.00029
|
NM_001161352.2(KCNMA1):c.3148-8T>C
|
rs79155047
|
0.00029
|
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile)
|
rs202234374
|
0.00029
|
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)
|
rs188917199
|
0.00029
|
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)
|
rs376768790
|
0.00029
|
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=)
|
rs372528823
|
0.00029
|
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)
|
rs200593368
|
0.00029
|
NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr)
|
rs531590921
|
0.00029
|
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln)
|
rs185620750
|
0.00029
|
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr)
|
rs201804005
|
0.00029
|
NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg)
|
rs375204371
|
0.00029
|
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser)
|
rs377226540
|
0.00029
|
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)
|
rs200513274
|
0.00029
|
NM_001276345.2(TNNT2):c.41+16A>G
|
rs370729174
|
0.00029
|
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=)
|
rs61757108
|
0.00029
|
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile)
|
rs373211307
|
0.00029
|
NM_001378609.3(OTOGL):c.4518C>T (p.Asp1506=)
|
rs187941815
|
0.00029
|
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=)
|
rs182369056
|
0.00029
|
NM_001384474.1(LOXHD1):c.5400-3C>T
|
rs528236655
|
0.00029
|
NM_001848.3(COL6A1):c.1399-3C>T
|
rs200095847
|
0.00029
|
NM_001849.4(COL6A2):c.1522-9C>T
|
rs371576207
|
0.00029
|
NM_001851.6(COL9A1):c.2011G>A (p.Glu671Lys)
|
rs141825151
|
0.00029
|
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn)
|
rs143663917
|
0.00029
|
NM_001966.4(EHHADH):c.6C>G (p.Ala2=)
|
rs141515588
|
0.00029
|
NM_002427.4(MMP13):c.663G>A (p.Ala221=)
|
rs143331971
|
0.00029
|
NM_002617.4(PEX10):c.316C>T (p.Leu106=)
|
rs140340426
|
0.00029
|
NM_002693.3(POLG):c.3652C>T (p.Leu1218=)
|
rs146301349
|
0.00029
|
NM_002834.5(PTPN11):c.48A>G (p.Ala16=)
|
rs372736227
|
0.00029
|
NM_003322.6(TULP1):c.327C>G (p.Ala109=)
|
rs568898016
|
0.00029
|
NM_003482.4(KMT2D):c.840-6C>T
|
rs182926808
|
0.00029
|
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile)
|
rs200018416
|
0.00029
|
NM_004369.4(COL6A3):c.9498C>T (p.Leu3166=)
|
rs150376179
|
0.00029
|
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=)
|
rs146168040
|
0.00029
|
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val)
|
rs199767035
|
0.00029
|
NM_005045.4(RELN):c.5643G>A (p.Leu1881=)
|
rs141387255
|
0.00029
|
NM_005045.4(RELN):c.8843+3A>C
|
rs200124755
|
0.00029
|
NM_005378.6(MYCN):c.710C>T (p.Pro237Leu)
|
rs767711936
|
0.00029
|
NM_006005.3(WFS1):c.325C>T (p.His109Tyr)
|
rs112871383
|
0.00029
|
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=)
|
rs145718040
|
0.00029
|
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)
|
rs41286298
|
0.00029
|
NM_012301.4(MAGI2):c.2131C>A (p.Pro711Thr)
|
rs144078604
|
0.00029
|
NM_014762.4(DHCR24):c.102C>T (p.Phe34=)
|
rs144149165
|
0.00029
|
NM_017553.3(INO80):c.1833C>T (p.Phe611=)
|
rs147454171
|
0.00029
|
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
|
rs202112856
|
0.00029
|
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=)
|
rs41265246
|
0.00029
|
NM_018451.5(CPAP):c.1513G>A (p.Glu505Lys)
|
rs145679691
|
0.00029
|
NM_021098.3(CACNA1H):c.4488G>A (p.Ser1496=)
|
rs377112179
|
0.00029
|
NM_022042.4(SLC26A1):c.1612C>T (p.Arg538Trp)
|
rs143381873
|
0.00029
|
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys)
|
rs148018494
|
0.00029
|
NM_025265.4(TSEN2):c.309G>A (p.Arg103=)
|
rs148549222
|
0.00029
|
NM_080605.4(B3GALT6):c.834G>A (p.Thr278=)
|
rs368078922
|
0.00029
|
NM_080916.3(DGUOK):c.256-7C>T
|
rs199531052
|
0.00029
|
NM_130837.3(OPA1):c.921C>T (p.Asp307=)
|
rs147242797
|
0.00029
|
NM_133379.5(TTN):c.12204C>T (p.Gly4068=)
|
rs144330952
|
0.00029
|
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=)
|
rs146468152
|
0.00029
|
NM_153033.5(KCTD7):c.387C>T (p.Ala129=)
|
rs140932942
|
0.00029
|
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg)
|
rs187218889
|
0.00029
|
NM_176824.3(BBS7):c.1158A>G (p.Thr386=)
|
rs146617227
|
0.00029
|
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln)
|
rs150387338
|
0.00029
|
NM_182961.4(SYNE1):c.24660C>T (p.His8220=)
|
rs150811468
|
0.00029
|
NM_201384.3(PLEC):c.1977+7G>A
|
rs184363750
|
0.00029
|
NM_201384.3(PLEC):c.2736C>G (p.Ala912=)
|
rs558031489
|
0.00029
|
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=)
|
rs370168097
|
0.00029
|
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val)
|
rs367715805
|
0.00029
|
NM_201525.4(ADGRG1):c.97C>T (p.Arg33Cys)
|
rs776480483
|
0.00029
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu)
|
rs150452037
|
0.00028
|
NM_000232.5(SGCB):c.496A>G (p.Ile166Val)
|
rs138877636
|
0.00028
|
NM_000260.4(MYO7A):c.731G>A (p.Arg244His)
|
rs121965081
|
0.00028
|
NM_000271.5(NPC1):c.3246-8C>T
|
rs145227129
|
0.00028
|
NM_000275.3(OCA2):c.45G>A (p.Pro15=)
|
rs202091837
|
0.00028
|
NM_000381.4(MID1):c.1988C>T (p.Thr663Ile)
|
rs138558359
|
0.00028
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00028
|
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=)
|
rs200780880
|
0.00028
|
NM_000843.4(GRM6):c.1455C>T (p.Gly485=)
|
rs149519053
|
0.00028
|
NM_001005361.3(DNM2):c.645C>T (p.Asp215=)
|
rs148900299
|
0.00028
|
NM_001039141.3(TRIOBP):c.483G>A (p.Glu161=)
|
rs368119524
|
0.00028
|
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=)
|
rs371501734
|
0.00028
|
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=)
|
rs190024862
|
0.00028
|
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=)
|
rs34654141
|
0.00028
|
NM_001193315.2(VIPAS39):c.504+9A>G
|
rs371762531
|
0.00028
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=)
|
rs373223049
|
0.00028
|
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile)
|
rs202160275
|
0.00028
|
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=)
|
rs202200861
|
0.00028
|
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)
|
rs200689750
|
0.00028
|
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)
|
rs72646898
|
0.00028
|
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=)
|
rs142563956
|
0.00028
|
NM_001291867.2(NHS):c.513C>T (p.Leu171=)
|
rs398124610
|
0.00028
|
NM_001371986.1(UNC80):c.691G>A (p.Ala231Thr)
|
rs144011305
|
0.00028
|
NM_001844.5(COL2A1):c.2680-9C>T
|
rs369022247
|
0.00028
|
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr)
|
rs147800688
|
0.00028
|
NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=)
|
rs147409148
|
0.00028
|
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=)
|
rs199953428
|
0.00028
|
NM_005378.6(MYCN):c.658G>T (p.Ala220Ser)
|
rs745414155
|
0.00028
|
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=)
|
rs369899077
|
0.00028
|
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)
|
rs71539657
|
0.00028
|
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys)
|
rs143560718
|
0.00028
|
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn)
|
rs375217032
|
0.00028
|
NM_015102.5(NPHP4):c.138C>T (p.Gly46=)
|
rs201069164
|
0.00028
|
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=)
|
rs199925943
|
0.00028
|
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile)
|
rs373552185
|
0.00028
|
NM_017617.5(NOTCH1):c.1100-8C>T
|
rs545088400
|
0.00028
|
NM_020779.4(WDR35):c.2964+10C>A
|
rs201207790
|
0.00028
|
NM_022464.5(SIL1):c.1167C>T (p.Pro389=)
|
rs199890503
|
0.00028
|
NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met)
|
rs139119218
|
0.00028
|
NM_052845.4(MMAB):c.444G>A (p.Gly148=)
|
rs117269384
|
0.00028
|
NM_130837.3(OPA1):c.2088G>A (p.Ala696=)
|
rs138114609
|
0.00028
|
NM_133379.5(TTN):c.13123G>T (p.Ala4375Ser)
|
rs72647902
|
0.00028
|
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)
|
rs80358359
|
0.00028
|
NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=)
|
rs187667255
|
0.00028
|
NM_144997.7(FLCN):c.1149C>T (p.Leu383=)
|
rs150752548
|
0.00028
|
NM_170707.4(LMNA):c.192C>T (p.Thr64=)
|
rs137969290
|
0.00028
|
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=)
|
rs138173087
|
0.00028
|
NM_201384.3(PLEC):c.11036C>T (p.Ala3679Val)
|
rs200060757
|
0.00028
|
NM_207346.3(TSEN54):c.984T>C (p.Ala328=)
|
rs776960594
|
0.00028
|
NM_000023.4(SGCA):c.189C>T (p.His63=)
|
rs373770886
|
0.00027
|
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg)
|
rs199875457
|
0.00027
|
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met)
|
rs201203036
|
0.00027
|
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)
|
rs549894501
|
0.00027
|
NM_000443.4(ABCB4):c.2395-3T>C
|
rs377462787
|
0.00027
|
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=)
|
rs371394487
|
0.00027
|
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly)
|
rs149984626
|
0.00027
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00027
|
NM_001035.3(RYR2):c.8831-9A>C
|
rs187977513
|
0.00027
|
NM_001102564.3(IFT43):c.296-5600G>C
|
rs189153179
|
0.00027
|
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met)
|
rs139515659
|
0.00027
|
NM_001127649.3(PEX26):c.318C>G (p.Val106=)
|
rs142072315
|
0.00027
|
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val)
|
rs200424400
|
0.00027
|
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser)
|
rs200866883
|
0.00027
|
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys)
|
rs199557654
|
0.00027
|
NM_001267550.2(TTN):c.41330-7T>A
|
rs373636988
|
0.00027
|
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)
|
rs34706299
|
0.00027
|
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met)
|
rs375173874
|
0.00027
|
NM_001267550.2(TTN):c.88306+8T>C
|
rs369690199
|
0.00027
|
NM_001360.3(DHCR7):c.139C>T (p.Leu47=)
|
rs140721259
|
0.00027
|
NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile)
|
rs138338096
|
0.00027
|
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=)
|
rs113002150
|
0.00027
|
NM_001854.4(COL11A1):c.1489-5C>A
|
rs370997745
|
0.00027
|
NM_002334.4(LRP4):c.2815-6T>G
|
rs372210790
|
0.00027
|
NM_002437.5(MPV17):c.156G>A (p.Leu52=)
|
rs142493907
|
0.00027
|
NM_002617.4(PEX10):c.611G>A (p.Arg204His)
|
rs199934621
|
0.00027
|
NM_003482.4(KMT2D):c.5124A>G (p.Thr1708=)
|
rs374724784
|
0.00027
|
NM_003611.3(OFD1):c.54A>G (p.Glu18=)
|
rs147114577
|
0.00027
|
NM_004369.4(COL6A3):c.7029+10C>T
|
rs376525317
|
0.00027
|
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=)
|
rs149055008
|
0.00027
|
NM_004727.3(SLC24A1):c.2577C>T (p.Ser859=)
|
rs371059164
|
0.00027
|
NM_006432.5(NPC2):c.212A>G (p.Lys71Arg)
|
rs142075589
|
0.00027
|
NM_006432.5(NPC2):c.450T>C (p.His150=)
|
rs374489111
|
0.00027
|
NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=)
|
rs147958141
|
0.00027
|
NM_013382.7(POMT2):c.66C>T (p.Gly22=)
|
rs200670377
|
0.00027
|
NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=)
|
rs375734152
|
0.00027
|
NM_014319.5(LEMD3):c.1330C>G (p.Pro444Ala)
|
rs144127577
|
0.00027
|
NM_014425.5(INVS):c.67G>A (p.Val23Ile)
|
rs145303373
|
0.00027
|
NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln)
|
rs201388841
|
0.00027
|
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val)
|
rs199510686
|
0.00027
|
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=)
|
rs376881824
|
0.00027
|
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val)
|
rs143396390
|
0.00027
|
NM_032119.4(ADGRV1):c.3022+8T>C
|
rs375286987
|
0.00027
|
NM_032322.4(RNF135):c.1009G>A (p.Asp337Asn)
|
rs148682566
|
0.00027
|
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile)
|
rs56239539
|
0.00027
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00027
|
NM_182931.3(KMT2E):c.3875C>T (p.Pro1292Leu)
|
rs144839449
|
0.00027
|
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)
|
rs188146577
|
0.00027
|
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=)
|
rs149566576
|
0.00027
|
NM_201384.3(PLEC):c.10499G>A (p.Arg3500His)
|
rs201387815
|
0.00027
|
NM_201384.3(PLEC):c.5487C>T (p.Ala1829=)
|
rs781998103
|
0.00027
|
NM_207122.2(EXT2):c.1645C>T (p.Leu549=)
|
rs142565472
|
0.00027
|
NM_207361.6(FREM2):c.7062G>A (p.Thr2354=)
|
rs41286130
|
0.00027
|
NM_000057.4(BLM):c.191A>T (p.Asp64Val)
|
rs140382474
|
0.00026
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
NM_000091.5(COL4A3):c.2848G>A (p.Val950Ile)
|
rs200044988
|
0.00026
|
NM_000117.3(EMD):c.646G>A (p.Gly216Arg)
|
rs147920229
|
0.00026
|
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=)
|
rs145040593
|
0.00026
|
NM_000138.5(FBN1):c.5423-4G>A
|
rs377036485
|
0.00026
|
NM_000152.5(GAA):c.2332-10C>G
|
rs373606162
|
0.00026
|
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738
|
0.00026
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
NM_000214.3(JAG1):c.82G>C (p.Val28Leu)
|
rs142855305
|
0.00026
|
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln)
|
rs397515922
|
0.00026
|
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln)
|
rs199473331
|
0.00026
|
NM_000388.4(CASR):c.885C>T (p.Ala295=)
|
rs147307274
|
0.00026
|
NM_000392.5(ABCC2):c.2955G>A (p.Ala985=)
|
rs139082536
|
0.00026
|
NM_000392.5(ABCC2):c.3057G>C (p.Gln1019His)
|
rs144521346
|
0.00026
|
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr)
|
rs146304983
|
0.00026
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
NM_000548.5(TSC2):c.5068+9G>A
|
rs45445593
|
0.00026
|
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=)
|
rs138902646
|
0.00026
|
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=)
|
rs370607340
|
0.00026
|
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=)
|
rs376909665
|
0.00026
|
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=)
|
rs150093305
|
0.00026
|
NM_001130987.2(DYSF):c.2217-11G>A
|
rs200853014
|
0.00026
|
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)
|
rs370053963
|
0.00026
|
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=)
|
rs370873040
|
0.00026
|
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)
|
rs199804623
|
0.00026
|
NM_001252024.2(TRPM1):c.2485G>A (p.Glu829Lys)
|
rs200684841
|
0.00026
|
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=)
|
rs201246720
|
0.00026
|
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser)
|
rs201298767
|
0.00026
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
NM_001267550.2(TTN):c.28170C>T (p.Leu9390=)
|
rs149910892
|
0.00026
|
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr)
|
rs371452173
|
0.00026
|
NM_001267550.2(TTN):c.32792A>C (p.Glu10931Ala)
|
rs370498307
|
0.00026
|
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)
|
rs72677223
|
0.00026
|
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg)
|
rs200042932
|
0.00026
|
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)
|
rs199640194
|
0.00026
|
NM_001267550.2(TTN):c.52004G>A (p.Arg17335His)
|
rs367603302
|
0.00026
|
NM_001267550.2(TTN):c.57263-4C>T
|
rs373552048
|
0.00026
|
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln)
|
rs188996850
|
0.00026
|
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu)
|
rs201662134
|
0.00026
|
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)
|
rs368867993
|
0.00026
|
NM_001267550.2(TTN):c.69984G>A (p.Ala23328=)
|
rs56052239
|
0.00026
|
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)
|
rs370771532
|
0.00026
|
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp)
|
rs201400267
|
0.00026
|
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)
|
rs373206096
|
0.00026
|
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile)
|
rs182683829
|
0.00026
|
NM_001291303.3(FAT4):c.11040G>A (p.Thr3680=)
|
rs147998041
|
0.00026
|
NM_001292063.2(OTOG):c.2385G>T (p.Gly795=)
|
rs564595203
|
0.00026
|
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser)
|
rs137852820
|
0.00026
|
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys)
|
rs141525226
|
0.00026
|
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr)
|
rs369682692
|
0.00026
|
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=)
|
rs200306249
|
0.00026
|
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser)
|
rs144547088
|
0.00026
|
NM_001848.3(COL6A1):c.1602C>T (p.Pro534=)
|
rs143755280
|
0.00026
|
NM_001966.4(EHHADH):c.1013A>G (p.Lys338Arg)
|
rs141210101
|
0.00026
|
NM_002335.4(LRP5):c.4565C>T (p.Pro1522Leu)
|
rs200624778
|
0.00026
|
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)
|
rs191293931
|
0.00026
|
NM_003049.4(SLC10A1):c.573G>C (p.Gly191=)
|
rs200693940
|
0.00026
|
NM_003482.4(KMT2D):c.3906+20C>T
|
rs375504464
|
0.00026
|
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=)
|
rs199768095
|
0.00026
|
NM_004260.4(RECQL4):c.1872C>T (p.Val624=)
|
rs201815449
|
0.00026
|
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)
|
rs78427077
|
0.00026
|
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=)
|
rs115893145
|
0.00026
|
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser)
|
rs115577014
|
0.00026
|
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser)
|
rs144934321
|
0.00026
|
NM_012254.3(SLC27A5):c.2070C>G (p.Leu690=)
|
rs184994408
|
0.00026
|
NM_014425.5(INVS):c.2664T>C (p.Ser888=)
|
rs1052867
|
0.00026
|
NM_015192.4(PLCB1):c.3607C>T (p.Leu1203=)
|
rs150804955
|
0.00026
|
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr)
|
rs113434340
|
0.00026
|
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=)
|
rs201893489
|
0.00026
|
NM_015404.4(WHRN):c.2237-10C>G
|
rs200131193
|
0.00026
|
NM_017739.4(POMGNT1):c.1284+9G>C
|
rs565797493
|
0.00026
|
NM_018136.5(ASPM):c.8966A>G (p.Tyr2989Cys)
|
rs149690383
|
0.00026
|
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=)
|
rs142424896
|
0.00026
|
NM_022437.3(ABCG8):c.888G>T (p.Ala296=)
|
rs143182625
|
0.00026
|
NM_022464.5(SIL1):c.984C>T (p.Leu328=)
|
rs368666457
|
0.00026
|
NM_024408.4(NOTCH2):c.5103A>G (p.Lys1701=)
|
rs201233415
|
0.00026
|
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg)
|
rs370633684
|
0.00026
|
NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val)
|
rs142574684
|
0.00026
|
NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=)
|
rs373352597
|
0.00026
|
NM_033641.4(COL4A6):c.726A>C (p.Pro242=)
|
rs149989161
|
0.00026
|
NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=)
|
rs371347218
|
0.00026
|
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=)
|
rs149427926
|
0.00026
|
NM_147196.3(TMIE):c.191C>T (p.Ser64Leu)
|
rs189895472
|
0.00026
|
NM_153240.5(NPHP3):c.118C>T (p.Leu40=)
|
rs374281831
|
0.00026
|
NM_153240.5(NPHP3):c.408G>A (p.Thr136=)
|
rs141410951
|
0.00026
|
NM_181332.3(NLGN4X):c.1305G>A (p.Thr435=)
|
rs149512448
|
0.00026
|
NM_201384.3(PLEC):c.12781G>A (p.Ala4261Thr)
|
rs200924154
|
0.00026
|
NM_201384.3(PLEC):c.13209G>A (p.Pro4403=)
|
rs200338374
|
0.00026
|
NM_201384.3(PLEC):c.3831C>T (p.Asn1277=)
|
rs202217053
|
0.00026
|
NM_201384.3(PLEC):c.8762C>T (p.Thr2921Met)
|
rs191036710
|
0.00026
|
NM_201384.3(PLEC):c.8845C>T (p.Arg2949Trp)
|
rs202241157
|
0.00026
|
NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr)
|
rs201030020
|
0.00026
|
NM_207361.6(FREM2):c.9009C>T (p.Val3003=)
|
rs145657148
|
0.00026
|
NM_000057.4(BLM):c.2838A>G (p.Thr946=)
|
rs200850440
|
0.00025
|
NM_000124.4(ERCC6):c.438C>T (p.Ser146=)
|
rs138756386
|
0.00025
|
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro)
|
rs573367793
|
0.00025
|
NM_000186.4(CFH):c.3133+4C>G
|
rs374729595
|
0.00025
|
NM_000208.4(INSR):c.1179G>A (p.Gly393=)
|
rs140573575
|
0.00025
|
NM_000232.5(SGCB):c.495C>T (p.Asp165=)
|
rs142801720
|
0.00025
|
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile)
|
rs116214830
|
0.00025
|
NM_000384.3(APOB):c.9639C>A (p.Asn3213Lys)
|
rs574725520
|
0.00025
|
NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe)
|
rs199553519
|
0.00025
|
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr)
|
rs142180002
|
0.00025
|
NM_000492.4(CFTR):c.3718-24G>A
|
rs374013084
|
0.00025
|
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=)
|
rs79688066
|
0.00025
|
NM_000540.3(RYR1):c.5235G>A (p.Thr1745=)
|
rs149471411
|
0.00025
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=)
|
rs370576211
|
0.00025
|
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile)
|
rs149101812
|
0.00025
|
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln)
|
rs150628823
|
0.00025
|
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)
|
rs200626788
|
0.00025
|
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=)
|
rs150355624
|
0.00025
|
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile)
|
rs202124287
|
0.00025
|
NM_001177316.2(SLC34A3):c.1074G>A (p.Val358=)
|
rs146097023
|
0.00025
|
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=)
|
rs377697825
|
0.00025
|
NM_001202.6(BMP4):c.676C>T (p.Arg226Trp)
|
rs140590144
|
0.00025
|
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)
|
rs200237973
|
0.00025
|
NM_001267550.2(TTN):c.102696C>T (p.Val34232=)
|
rs202180775
|
0.00025
|
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met)
|
rs199796249
|
0.00025
|
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys)
|
rs2303830
|
0.00025
|
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=)
|
rs371031259
|
0.00025
|
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val)
|
rs374058726
|
0.00025
|
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)
|
rs146941600
|
0.00025
|
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=)
|
rs145133144
|
0.00025
|
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=)
|
rs368686031
|
0.00025
|
NM_001371333.1(DIABLO):c.50+5C>T
|
rs372776075
|
0.00025
|
NM_001384732.1(CPLANE1):c.3381G>C (p.Ser1127=)
|
rs566190241
|
0.00025
|
NM_001429.4(EP300):c.5172C>A (p.Thr1724=)
|
rs142330184
|
0.00025
|
NM_001848.3(COL6A1):c.2856C>T (p.Pro952=)
|
rs140427635
|
0.00025
|
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His)
|
rs145698301
|
0.00025
|
NM_002473.6(MYH9):c.1479G>A (p.Gln493=)
|
rs376262583
|
0.00025
|
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn)
|
rs34292387
|
0.00025
|
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala)
|
rs200739891
|
0.00025
|
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=)
|
rs115551245
|
0.00025
|
NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=)
|
rs148821986
|
0.00025
|
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00025
|
NM_004700.4(KCNQ4):c.1259G>A (p.Arg420Gln)
|
rs374078257
|
0.00025
|
NM_005476.7(GNE):c.843C>T (p.His281=)
|
rs138694766
|
0.00025
|
NM_005802.5(TOPORS):c.2115T>C (p.Thr705=)
|
rs372292364
|
0.00025
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=)
|
rs201884756
|
0.00025
|
NM_006922.4(SCN3A):c.2121C>T (p.Ser707=)
|
rs370351101
|
0.00025
|
NM_012193.4(FZD4):c.118G>C (p.Glu40Gln)
|
rs139401671
|
0.00025
|
NM_014251.3(SLC25A13):c.882T>C (p.Ala294=)
|
rs138094550
|
0.00025
|
NM_014780.5(CUL7):c.2802C>A (p.Leu934=)
|
rs144926293
|
0.00025
|
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)
|
rs201903713
|
0.00025
|
NM_015910.7(WDPCP):c.1788C>T (p.Asp596=)
|
rs185980830
|
0.00025
|
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn)
|
rs199984328
|
0.00025
|
NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp)
|
rs143571876
|
0.00025
|
NM_032119.4(ADGRV1):c.5578G>A (p.Ala1860Thr)
|
rs369603835
|
0.00025
|
NM_033380.3(COL4A5):c.3023A>G (p.Lys1008Arg)
|
rs142929745
|
0.00025
|
NM_138694.4(PKHD1):c.130+9G>A
|
rs367608402
|
0.00025
|
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met)
|
rs199621305
|
0.00025
|
NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala)
|
rs144540943
|
0.00025
|
NM_153252.5(BRWD3):c.4377A>G (p.Leu1459=)
|
rs138240307
|
0.00025
|
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu)
|
rs150132765
|
0.00025
|
NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val)
|
rs782439290
|
0.00025
|
NM_201384.3(PLEC):c.5632C>T (p.Arg1878Trp)
|
rs782312793
|
0.00025
|
NM_201384.3(PLEC):c.5633G>A (p.Arg1878Gln)
|
rs373617951
|
0.00025
|
NM_201548.5(CERKL):c.60G>A (p.Glu20=)
|
rs556744419
|
0.00025
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
NM_000098.3(CPT2):c.1422C>A (p.Ala474=)
|
rs192779168
|
0.00024
|
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe)
|
rs150935953
|
0.00024
|
NM_000214.3(JAG1):c.399G>A (p.Thr133=)
|
rs763154396
|
0.00024
|
NM_000218.3(KCNQ1):c.386+14C>T
|
rs370023636
|
0.00024
|
NM_000233.4(LHCGR):c.1797C>A (p.Ile599=)
|
rs143697410
|
0.00024
|
NM_000235.4(LIPA):c.396C>G (p.Leu132=)
|
rs201603238
|
0.00024
|
NM_000245.4(MET):c.1932C>T (p.His644=)
|
rs45520237
|
0.00024
|
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)
|
rs377225516
|
0.00024
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)
|
rs147795644
|
0.00024
|
NM_000287.4(PEX6):c.306G>T (p.Ala102=)
|
rs727504083
|
0.00024
|
NM_000388.4(CASR):c.1110G>A (p.Val370=)
|
rs150412204
|
0.00024
|
NM_000392.5(ABCC2):c.469-9T>C
|
rs147614414
|
0.00024
|
NM_000452.3(SLC10A2):c.561C>G (p.Pro187=)
|
rs139517943
|
0.00024
|
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu)
|
rs114982090
|
0.00024
|
NM_000466.3(PEX1):c.2868T>A (p.Val956=)
|
rs200663477
|
0.00024
|
NM_000702.4(ATP1A2):c.2973C>T (p.Tyr991=)
|
rs149286529
|
0.00024
|
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=)
|
rs141633456
|
0.00024
|
NM_001024630.4(RUNX2):c.531C>G (p.Asn177Lys)
|
rs147359883
|
0.00024
|
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=)
|
rs143592561
|
0.00024
|
NM_001039348.3(EFEMP1):c.1413C>T (p.Ser471=)
|
rs374690853
|
0.00024
|
NM_001134407.3(GRIN2A):c.2165C>T (p.Thr722Met)
|
rs376029542
|
0.00024
|
NM_001193315.2(VIPAS39):c.1071C>T (p.Asn357=)
|
rs138544284
|
0.00024
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser)
|
rs377042940
|
0.00024
|
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)
|
rs190604150
|
0.00024
|
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys)
|
rs72677229
|
0.00024
|
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)
|
rs72646839
|
0.00024
|
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)
|
rs202012910
|
0.00024
|
NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp)
|
rs151193056
|
0.00024
|
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)
|
rs183276016
|
0.00024
|
NM_001267550.2(TTN):c.70056A>G (p.Arg23352=)
|
rs75948012
|
0.00024
|
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)
|
rs200193877
|
0.00024
|
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)
|
rs370479059
|
0.00024
|
NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys)
|
rs202187398
|
0.00024
|
NM_001277115.2(DNAH11):c.3853-5C>G
|
rs367628980
|
0.00024
|
NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=)
|
rs185667241
|
0.00024
|
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=)
|
rs143566075
|
0.00024
|
NM_001848.3(COL6A1):c.1122C>T (p.Gly374=)
|
rs373535692
|
0.00024
|
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln)
|
rs148962954
|
0.00024
|
NM_001849.4(COL6A2):c.2937C>T (p.Asp979=)
|
rs150716220
|
0.00024
|
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys)
|
rs113017484
|
0.00024
|
NM_001849.4(COL6A2):c.84G>A (p.Pro28=)
|
rs140890046
|
0.00024
|
NM_002024.6(FMR1):c.420-10A>T
|
rs781827082
|
0.00024
|
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val)
|
rs145972303
|
0.00024
|
NM_002693.3(POLG):c.2541C>T (p.Ala847=)
|
rs143810171
|
0.00024
|
NM_002693.3(POLG):c.3482+7G>A
|
rs200309191
|
0.00024
|
NM_003193.5(TBCE):c.708T>G (p.Leu236=)
|
rs141498084
|
0.00024
|
NM_003680.4(YARS1):c.510+10G>C
|
rs201272488
|
0.00024
|
NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys)
|
rs200148505
|
0.00024
|
NM_003742.4(ABCB11):c.477A>G (p.Gln159=)
|
rs191042013
|
0.00024
|
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly)
|
rs200124902
|
0.00024
|
NM_004006.3(DMD):c.6052C>A (p.Leu2018Ile)
|
rs367702968
|
0.00024
|
NM_004006.3(DMD):c.8076A>G (p.Gln2692=)
|
rs144518527
|
0.00024
|
NM_004006.3(DMD):c.9165G>A (p.Thr3055=)
|
rs137905486
|
0.00024
|
NM_004560.4(ROR2):c.1671G>A (p.Ser557=)
|
rs201232887
|
0.00024
|
NM_004813.4(PEX16):c.1002T>C (p.Ser334=)
|
rs144897515
|
0.00024
|
NM_004813.4(PEX16):c.887+9C>A
|
rs370590743
|
0.00024
|
NM_005045.4(RELN):c.4872A>G (p.Gln1624=)
|
rs149121159
|
0.00024
|
NM_006486.3(FBLN1):c.1074C>T (p.Asp358=)
|
rs147528917
|
0.00024
|
NM_012301.4(MAGI2):c.411G>A (p.Thr137=)
|
rs149568072
|
0.00024
|
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)
|
rs202004152
|
0.00024
|
NM_015338.6(ASXL1):c.2336C>T (p.Pro779Leu)
|
rs41289850
|
0.00024
|
NM_017739.4(POMGNT1):c.1786-6C>T
|
rs202028128
|
0.00024
|
NM_020754.4(ARHGAP31):c.435C>G (p.Thr145=)
|
rs201927115
|
0.00024
|
NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=)
|
rs377253172
|
0.00024
|
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)
|
rs141324814
|
0.00024
|
NM_153033.5(KCTD7):c.687T>C (p.Asp229=)
|
rs372150992
|
0.00024
|
NM_181426.2(CCDC39):c.1035-5T>C
|
rs200089274
|
0.00024
|
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=)
|
rs151081036
|
0.00024
|
NM_182961.4(SYNE1):c.12225+4G>A
|
rs770448083
|
0.00024
|
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln)
|
rs200812806
|
0.00024
|
NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys)
|
rs201069314
|
0.00024
|
NM_201384.3(PLEC):c.2268C>T (p.Thr756=)
|
rs371267446
|
0.00024
|
NM_201384.3(PLEC):c.5149C>T (p.Arg1717Trp)
|
rs192022872
|
0.00024
|
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)
|
rs201131924
|
0.00023
|
NM_000033.4(ABCD1):c.249C>T (p.Phe83=)
|
rs782628755
|
0.00023
|
NM_000214.3(JAG1):c.3280C>T (p.Arg1094Trp)
|
rs75652750
|
0.00023
|
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile)
|
rs369539923
|
0.00023
|
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)
|
rs373147966
|
0.00023
|
NM_000382.3(ALDH3A2):c.1108-3C>T
|
rs148944691
|
0.00023
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
0.00023
|
NM_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys)
|
rs151009169
|
0.00023
|
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys)
|
rs200524526
|
0.00023
|
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)
|
rs267608572
|
0.00023
|
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)
|
rs367857088
|
0.00023
|
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)
|
rs201819948
|
0.00023
|
NM_001267550.2(TTN):c.33172+4G>A
|
rs756475184
|
0.00023
|
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=)
|
rs372635204
|
0.00023
|
NM_001267550.2(TTN):c.59344+3G>A
|
rs142095604
|
0.00023
|
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly)
|
rs202032875
|
0.00023
|
NM_001267550.2(TTN):c.74844G>A (p.Lys24948=)
|
rs371884545
|
0.00023
|
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala)
|
rs377016580
|
0.00023
|
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala)
|
rs368877793
|
0.00023
|
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)
|
rs200014315
|
0.00023
|
NM_001378120.1(MBD5):c.69G>A (p.Val23=)
|
rs151204004
|
0.00023
|
NM_001378414.1(HDAC4):c.2151G>A (p.Gln717=)
|
rs138137158
|
0.00023
|
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=)
|
rs367841700
|
0.00023
|
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn)
|
rs374411782
|
0.00023
|
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)
|
rs145042175
|
0.00023
|
NM_001844.5(COL2A1):c.3699C>T (p.Pro1233=)
|
rs141944722
|
0.00023
|
NM_001927.4(DES):c.736-8C>A
|
rs140375681
|
0.00023
|
NM_002653.5(PITX1):c.262A>C (p.Lys88Gln)
|
rs200888898
|
0.00023
|
NM_003482.4(KMT2D):c.5181C>T (p.Pro1727=)
|
rs201686029
|
0.00023
|
NM_003742.4(ABCB11):c.23G>A (p.Arg8Gln)
|
rs368985605
|
0.00023
|
NM_003742.4(ABCB11):c.506G>A (p.Arg169His)
|
rs200870815
|
0.00023
|
NM_004006.3(DMD):c.884G>A (p.Arg295Gln)
|
rs377587957
|
0.00023
|
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=)
|
rs370000816
|
0.00023
|
NM_004863.4(SPTLC2):c.851-5T>C
|
rs199867946
|
0.00023
|
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=)
|
rs144434028
|
0.00023
|
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp)
|
rs144844263
|
0.00023
|
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=)
|
rs138459752
|
0.00023
|
NM_005676.5(RBM10):c.2175G>T (p.Pro725=)
|
rs137940243
|
0.00023
|
NM_012418.4(FSCN2):c.867C>T (p.His289=)
|
rs368687488
|
0.00023
|
NM_014014.5(SNRNP200):c.6082A>G (p.Ser2028Gly)
|
rs766856664
|
0.00023
|
NM_015102.5(NPHP4):c.2142T>A (p.Ala714=)
|
rs199912631
|
0.00023
|
NM_015192.4(PLCB1):c.714A>C (p.Pro238=)
|
rs147567110
|
0.00023
|
NM_016356.5(DCDC2):c.222C>A (p.Ile74=)
|
rs138670560
|
0.00023
|
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=)
|
rs370385319
|
0.00023
|
NM_018668.5(VPS33B):c.1658-7C>T
|
rs375376103
|
0.00023
|
NM_018668.5(VPS33B):c.240-9C>T
|
rs781107857
|
0.00023
|
NM_020822.3(KCNT1):c.474G>A (p.Ser158=)
|
rs139076605
|
0.00023
|
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met)
|
rs201297042
|
0.00023
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
NM_022437.3(ABCG8):c.1648G>A (p.Ala550Thr)
|
rs149441561
|
0.00023
|
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val)
|
rs200636818
|
0.00023
|
NM_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val)
|
rs200584854
|
0.00023
|
NM_032575.3(GLIS2):c.693C>T (p.Asn231=)
|
rs150071733
|
0.00023
|
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp)
|
rs149071920
|
0.00023
|
NM_080916.3(DGUOK):c.664C>T (p.Leu222=)
|
rs375686551
|
0.00023
|
NM_138927.4(SON):c.2659G>A (p.Ala887Thr)
|
rs370344763
|
0.00023
|
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=)
|
rs201650333
|
0.00023
|
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys)
|
rs144702281
|
0.00023
|
NM_201384.3(PLEC):c.12837C>T (p.Pro4279=)
|
rs759030267
|
0.00023
|
NM_201384.3(PLEC):c.2541C>T (p.Ser847=)
|
rs374688294
|
0.00023
|
NM_201384.3(PLEC):c.5811G>A (p.Ala1937=)
|
rs199990259
|
0.00023
|
NM_201384.3(PLEC):c.7061C>T (p.Ala2354Val)
|
rs370003608
|
0.00023
|
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)
|
rs150982499
|
0.00023
|
NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr)
|
rs201665434
|
0.00022
|
NM_000137.4(FAH):c.747A>G (p.Pro249=)
|
rs138757552
|
0.00022
|
NM_000152.5(GAA):c.1599C>T (p.Cys533=)
|
rs142766716
|
0.00022
|
NM_000245.4(MET):c.1076G>A (p.Arg359Gln)
|
rs201274041
|
0.00022
|
NM_000271.5(NPC1):c.471C>T (p.Tyr157=)
|
rs145101354
|
0.00022
|
NM_000304.4(PMP22):c.320-4C>T
|
rs377467465
|
0.00022
|
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile)
|
rs142163063
|
0.00022
|
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val)
|
rs141193981
|
0.00022
|
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)
|
rs150667796
|
0.00022
|
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=)
|
rs201719745
|
0.00022
|
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)
|
rs142540482
|
0.00022
|
NM_000702.4(ATP1A2):c.1652-8C>T
|
rs370023134
|
0.00022
|
NM_000875.5(IGF1R):c.1500G>A (p.Thr500=)
|
rs370500527
|
0.00022
|
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)
|
rs551099887
|
0.00022
|
NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg)
|
rs372134073
|
0.00022
|
NM_001122630.2(CDKN1C):c.411G>A (p.Pro137=)
|
rs878853625
|
0.00022
|
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=)
|
rs374307014
|
0.00022
|
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)
|
rs375354077
|
0.00022
|
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp)
|
rs201189784
|
0.00022
|
NM_001206979.2(NR1H4):c.438G>A (p.Gly146=)
|
rs137946171
|
0.00022
|
NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln)
|
rs199710082
|
0.00022
|
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys)
|
rs192553687
|
0.00022
|
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)
|
rs200952728
|
0.00022
|
NM_001267550.2(TTN):c.33340+5A>C
|
rs373367032
|
0.00022
|
NM_001267550.2(TTN):c.33911-6_33911-5insG
|
rs765503214
|
0.00022
|
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)
|
rs145039979
|
0.00022
|
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)
|
rs201674674
|
0.00022
|
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu)
|
rs189030321
|
0.00022
|
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=)
|
rs183620684
|
0.00022
|
NM_001297.5(CNGB1):c.838-4G>T
|
rs375539469
|
0.00022
|
NM_001367721.1(CASK):c.356+6T>C
|
rs200402760
|
0.00022
|
NM_001377.3(DYNC2H1):c.10043-7T>A
|
rs376067770
|
0.00022
|
NM_001378120.1(MBD5):c.276A>G (p.Ala92=)
|
rs141855494
|
0.00022
|
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=)
|
rs771914973
|
0.00022
|
NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=)
|
rs151178361
|
0.00022
|
NM_001493.3(GDI1):c.1167C>T (p.Pro389=)
|
rs140855833
|
0.00022
|
NM_002335.4(LRP5):c.639C>T (p.Asp213=)
|
rs150859573
|
0.00022
|
NM_002546.4(TNFRSF11B):c.96C>T (p.Asp32=)
|
rs4876870
|
0.00022
|
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe)
|
rs60203778
|
0.00022
|
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)
|
rs758633794
|
0.00022
|
NM_004006.3(DMD):c.9287-8C>T
|
rs371035624
|
0.00022
|
NM_004304.5(ALK):c.3291C>T (p.Cys1097=)
|
rs370170353
|
0.00022
|
NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=)
|
rs375909800
|
0.00022
|
NM_004565.3(PEX14):c.360A>G (p.Ala120=)
|
rs148479162
|
0.00022
|
NM_004820.5(CYP7B1):c.522T>C (p.Ser174=)
|
rs371522442
|
0.00022
|
NM_005477.3(HCN4):c.1459G>A (p.Val487Met)
|
rs202037304
|
0.00022
|
NM_006017.3(PROM1):c.2271C>T (p.Ile757=)
|
rs375986111
|
0.00022
|
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=)
|
rs150788130
|
0.00022
|
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=)
|
rs139383288
|
0.00022
|
NM_014425.5(INVS):c.114T>C (p.Ser38=)
|
rs114056499
|
0.00022
|
NM_014780.5(CUL7):c.981C>T (p.Pro327=)
|
rs144880219
|
0.00022
|
NM_015311.3(OBSL1):c.1283-9G>A
|
rs376967214
|
0.00022
|
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr)
|
rs201423234
|
0.00022
|
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn)
|
rs139876661
|
0.00022
|
NM_021971.4(GMPPB):c.1048G>A (p.Gly350Ser)
|
rs184127567
|
0.00022
|
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=)
|
rs111033493
|
0.00022
|
NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr)
|
rs115013051
|
0.00022
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val)
|
rs375921325
|
0.00022
|
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys)
|
rs199499672
|
0.00022
|
NM_130837.3(OPA1):c.3027A>C (p.Glu1009Asp)
|
rs189036094
|
0.00022
|
NM_133379.5(TTN):c.12550G>T (p.Gly4184Cys)
|
rs145460295
|
0.00022
|
NM_139058.3(ARX):c.336A>G (p.Ala112=)
|
rs794727308
|
0.00022
|
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=)
|
rs115535983
|
0.00022
|
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=)
|
rs200220646
|
0.00022
|
NM_201384.3(PLEC):c.2163C>T (p.Asn721=)
|
rs374712759
|
0.00022
|
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys)
|
rs372256096
|
0.00022
|
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)
|
rs139955975
|
0.00021
|
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)
|
rs143152201
|
0.00021
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp)
|
rs76077021
|
0.00021
|
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)
|
rs201839693
|
0.00021
|
NM_000260.4(MYO7A):c.2208G>A (p.Leu736=)
|
rs373599360
|
0.00021
|
NM_000287.4(PEX6):c.1884+3G>A
|
rs377041406
|
0.00021
|
NM_000392.5(ABCC2):c.4348G>T (p.Ala1450Ser)
|
rs56296335
|
0.00021
|
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)
|
rs150326995
|
0.00021
|
NM_000443.4(ABCB4):c.3000T>C (p.Ala1000=)
|
rs1057495486
|
0.00021
|
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=)
|
rs144249535
|
0.00021
|
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)
|
rs147021347
|
0.00021
|
NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=)
|
rs121912283
|
0.00021
|
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=)
|
rs148132118
|
0.00021
|
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr)
|
rs150721582
|
0.00021
|
NM_001039141.3(TRIOBP):c.6360C>T (p.Ser2120=)
|
rs375936342
|
0.00021
|
NM_001083961.2(WDR62):c.189G>T (p.Glu63Asp)
|
rs201053854
|
0.00021
|
NM_001083961.2(WDR62):c.820T>G (p.Tyr274Asp)
|
rs746156911
|
0.00021
|
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)
|
rs139529811
|
0.00021
|
NM_001134407.3(GRIN2A):c.736C>A (p.Leu246Ile)
|
rs555768104
|
0.00021
|
NM_001193315.2(VIPAS39):c.171C>G (p.Val57=)
|
rs144120903
|
0.00021
|
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys)
|
rs376593556
|
0.00021
|
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln)
|
rs117551279
|
0.00021
|
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe)
|
rs201029552
|
0.00021
|
NM_001267550.2(TTN):c.28644G>A (p.Thr9548=)
|
rs376744914
|
0.00021
|
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys)
|
rs201035457
|
0.00021
|
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu)
|
rs201581947
|
0.00021
|
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser)
|
rs191927501
|
0.00021
|
NM_001267550.2(TTN):c.62280T>C (p.Val20760=)
|
rs372065796
|
0.00021
|
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=)
|
rs201837864
|
0.00021
|
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser)
|
rs187460377
|
0.00021
|
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=)
|
rs145823218
|
0.00021
|
NM_001378120.1(MBD5):c.2010C>G (p.Leu670=)
|
rs371014306
|
0.00021
|
NM_001458.5(FLNC):c.2733G>A (p.Lys911=)
|
rs374135903
|
0.00021
|
NM_001492.6(GDF1):c.485G>A (p.Gly162Asp)
|
rs121434424
|
0.00021
|
NM_001701.4(BAAT):c.1173C>T (p.His391=)
|
rs113673597
|
0.00021
|
NM_002437.5(MPV17):c.31C>T (p.Leu11=)
|
rs540291444
|
0.00021
|
NM_002618.4(PEX13):c.354T>C (p.Phe118=)
|
rs143378216
|
0.00021
|
NM_002693.3(POLG):c.2149C>T (p.Leu717=)
|
rs779515404
|
0.00021
|
NM_004006.3(DMD):c.3951G>A (p.Glu1317=)
|
rs199643655
|
0.00021
|
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)
|
rs114284669
|
0.00021
|
NM_004369.4(COL6A3):c.759C>T (p.Thr253=)
|
rs376087730
|
0.00021
|
NM_004463.3(FGD1):c.1563C>T (p.Pro521=)
|
rs201996522
|
0.00021
|
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser)
|
rs118192254
|
0.00021
|
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys)
|
rs114501042
|
0.00021
|
NM_005609.4(PYGM):c.1143G>A (p.Leu381=)
|
rs143401208
|
0.00021
|
NM_006005.3(WFS1):c.975C>T (p.Asn325=)
|
rs141177727
|
0.00021
|
NM_006019.4(TCIRG1):c.1615G>A (p.Val539Ile)
|
rs142539969
|
0.00021
|
NM_006329.4(FBLN5):c.621T>C (p.Asp207=)
|
rs200178859
|
0.00021
|
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=)
|
rs138766015
|
0.00021
|
NM_006922.4(SCN3A):c.4335T>C (p.Tyr1445=)
|
rs145492863
|
0.00021
|
NM_006922.4(SCN3A):c.5825A>G (p.Gln1942Arg)
|
rs149264761
|
0.00021
|
NM_006950.3(SYN1):c.1569G>A (p.Ala523=)
|
rs587781185
|
0.00021
|
NM_014000.3(VCL):c.590C>T (p.Thr197Ile)
|
rs189242810
|
0.00021
|
NM_015102.5(NPHP4):c.1440G>A (p.Ser480=)
|
rs374690894
|
0.00021
|
NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=)
|
rs72862973
|
0.00021
|
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=)
|
rs61743849
|
0.00021
|
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=)
|
rs145194882
|
0.00021
|
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser)
|
rs188955444
|
0.00021
|
NM_020223.4(FAM20C):c.1299G>A (p.Pro433=)
|
rs568534039
|
0.00021
|
NM_020754.4(ARHGAP31):c.2323G>A (p.Gly775Ser)
|
rs147415811
|
0.00021
|
NM_022437.3(ABCG8):c.322+6G>A
|
rs181319879
|
0.00021
|
NM_022455.5(NSD1):c.1635G>A (p.Thr545=)
|
rs371958844
|
0.00021
|
NM_024301.5(FKRP):c.885C>T (p.Arg295=)
|
rs769005880
|
0.00021
|
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=)
|
rs372450763
|
0.00021
|
NM_025193.4(HSD3B7):c.695-5G>A
|
rs201111173
|
0.00021
|
NM_031220.4(PITPNM3):c.1124C>T (p.Pro375Leu)
|
rs138671220
|
0.00021
|
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe)
|
rs767087695
|
0.00021
|
NM_138694.4(PKHD1):c.8554+3A>G
|
rs370312392
|
0.00021
|
NM_153676.4(USH1C):c.513C>T (p.Pro171=)
|
rs199739341
|
0.00021
|
NM_182914.3(SYNE2):c.12903C>T (p.Gly4301=)
|
rs148708516
|
0.00021
|
NM_182961.4(SYNE1):c.11253+9G>A
|
rs368012172
|
0.00021
|
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=)
|
rs144376043
|
0.00021
|
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=)
|
rs143118084
|
0.00021
|
NM_182961.4(SYNE1):c.2569-8C>T
|
rs376033376
|
0.00021
|
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp)
|
rs140780725
|
0.00021
|
NM_198428.3(BBS9):c.771A>G (p.Ala257=)
|
rs145007686
|
0.00021
|
NM_198525.3(KIF7):c.612C>T (p.His204=)
|
rs398124613
|
0.00021
|
NM_201384.3(PLEC):c.11634G>A (p.Ser3878=)
|
rs375097273
|
0.00021
|
NM_201384.3(PLEC):c.2785C>T (p.Leu929=)
|
rs369676162
|
0.00021
|
NM_201384.3(PLEC):c.6605A>G (p.Lys2202Arg)
|
rs201928401
|
0.00021
|
NM_201384.3(PLEC):c.7686C>T (p.Ala2562=)
|
rs534269714
|
0.00021
|
NM_201384.3(PLEC):c.8041G>A (p.Glu2681Lys)
|
rs200128670
|
0.00021
|
NM_201384.3(PLEC):c.9929C>T (p.Ala3310Val)
|
rs183230983
|
0.00021
|
NM_201548.5(CERKL):c.900T>C (p.His300=)
|
rs183252158
|
0.00021
|
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)
|
rs80358906
|
0.00020
|
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=)
|
rs199884116
|
0.00020
|
NM_000152.5(GAA):c.1888+10_1888+11insC
|
rs748036956
|
0.00020
|
NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=)
|
rs148043302
|
0.00020
|
NM_000182.5(HADHA):c.2175C>T (p.Gly725=)
|
rs375399631
|
0.00020
|
NM_000202.8(IDS):c.104A>G (p.Asp35Gly)
|
rs144081417
|
0.00020
|
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)
|
rs191969418
|
0.00020
|
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)
|
rs200138397
|
0.00020
|
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=)
|
rs376612765
|
0.00020
|
NM_000426.4(LAMA2):c.2304C>T (p.Asp768=)
|
rs142126511
|
0.00020
|
NM_000540.3(RYR1):c.13680T>C (p.Phe4560=)
|
rs377664510
|
0.00020
|
NM_001128178.3(NPHP1):c.771+2C>T
|
rs189320299
|
0.00020
|
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=)
|
rs150556863
|
0.00020
|
NM_001170629.2(CHD8):c.4921+5G>A
|
rs377595194
|
0.00020
|
NM_001252024.2(TRPM1):c.4681C>T (p.Pro1561Ser)
|
rs183837653
|
0.00020
|
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile)
|
rs200430493
|
0.00020
|
NM_001267550.2(TTN):c.14424G>C (p.Val4808=)
|
rs374479775
|
0.00020
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
NM_001267550.2(TTN):c.62424C>T (p.Asp20808=)
|
rs374472044
|
0.00020
|
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=)
|
rs369223412
|
0.00020
|
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)
|
rs201831707
|
0.00020
|
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys)
|
rs199663613
|
0.00020
|
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu)
|
rs190967471
|
0.00020
|
NM_001291415.2(KDM6A):c.2212C>T (p.Pro738Ser)
|
rs200638114
|
0.00020
|
NM_001365536.1(SCN9A):c.4110T>C (p.Cys1370=)
|
rs199673396
|
0.00020
|
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=)
|
rs200499325
|
0.00020
|
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)
|
rs149278000
|
0.00020
|
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser)
|
rs775431837
|
0.00020
|
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser)
|
rs199922877
|
0.00020
|
NM_001793.6(CDH3):c.918C>T (p.Asp306=)
|
rs201521473
|
0.00020
|
NM_001848.3(COL6A1):c.2601C>T (p.Pro867=)
|
rs200124802
|
0.00020
|
NM_001849.4(COL6A2):c.759A>G (p.Glu253=)
|
rs140404854
|
0.00020
|
NM_001966.4(EHHADH):c.1938T>G (p.Ile646Met)
|
rs140527463
|
0.00020
|
NM_002968.3(SALL1):c.3750C>T (p.Asn1250=)
|
rs142653419
|
0.00020
|
NM_004369.4(COL6A3):c.1146G>A (p.Gln382=)
|
rs368800027
|
0.00020
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=)
|
rs571177831
|
0.00020
|
NM_005249.5(FOXG1):c.456G>T (p.Gly152=)
|
rs587783637
|
0.00020
|
NM_005881.4(BCKDK):c.1185C>T (p.Asp395=)
|
rs141335706
|
0.00020
|
NM_006915.3(RP2):c.30G>A (p.Lys10=)
|
rs782402689
|
0.00020
|
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe)
|
rs369588942
|
0.00020
|
NM_014467.3(SRPX2):c.693C>A (p.His231Gln)
|
rs142719253
|
0.00020
|
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu)
|
rs200187663
|
0.00020
|
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=)
|
rs202133782
|
0.00020
|
NM_018136.5(ASPM):c.7428G>T (p.Lys2476Asn)
|
rs200654820
|
0.00020
|
NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln)
|
rs202193200
|
0.00020
|
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys)
|
rs74315318
|
0.00020
|
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)
|
rs201295052
|
0.00020
|
NM_032119.4(ADGRV1):c.10550-7C>T
|
rs191228562
|
0.00020
|
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys)
|
rs138908576
|
0.00020
|
NM_133379.5(TTN):c.16020T>C (p.His5340=)
|
rs200378944
|
0.00020
|
NM_138694.4(PKHD1):c.7170T>C (p.Thr2390=)
|
rs368101035
|
0.00020
|
NM_153240.5(NPHP3):c.3336T>C (p.Ala1112=)
|
rs188431787
|
0.00020
|
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu)
|
rs138368397
|
0.00020
|
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=)
|
rs201908045
|
0.00020
|
NM_182961.4(SYNE1):c.3669+4C>G
|
rs376511242
|
0.00020
|
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=)
|
rs150727562
|
0.00020
|
NM_201384.3(PLEC):c.11031C>T (p.Leu3677=)
|
rs376779580
|
0.00020
|
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His)
|
rs574482100
|
0.00020
|
NM_206933.4(USH2A):c.7038C>T (p.His2346=)
|
rs145718407
|
0.00020
|
NM_000026.4(ADSL):c.357+7G>A
|
rs199993991
|
0.00019
|
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn)
|
rs80358782
|
0.00019
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu)
|
rs200211315
|
0.00019
|
NM_000214.3(JAG1):c.1348+3G>A
|
rs368718180
|
0.00019
|
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile)
|
rs149955375
|
0.00019
|
NM_000251.3(MSH2):c.481G>A (p.Val161Ile)
|
rs149511545
|
0.00019
|
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met)
|
rs138695961
|
0.00019
|
NM_000271.5(NPC1):c.3591C>T (p.Ser1197=)
|
rs191776973
|
0.00019
|
NM_000288.4(PEX7):c.188+3A>G
|
rs200234391
|
0.00019
|
NM_000295.5(SERPINA1):c.-4G>A
|
rs374417614
|
0.00019
|
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)
|
rs201556985
|
0.00019
|
NM_000392.5(ABCC2):c.2499T>C (p.Val833=)
|
rs75148532
|
0.00019
|
NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=)
|
rs369449821
|
0.00019
|
NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=)
|
rs8187808
|
0.00019
|
NM_000458.4(HNF1B):c.1668C>A (p.Ala556=)
|
rs144354798
|
0.00019
|
NM_000540.3(RYR1):c.2160C>G (p.Leu720=)
|
rs200914778
|
0.00019
|
NM_000541.5(SAG):c.1167T>A (p.Asp389Glu)
|
rs199798289
|
0.00019
|
NM_000548.5(TSC2):c.2295C>T (p.Ala765=)
|
rs45509500
|
0.00019
|
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=)
|
rs374857905
|
0.00019
|
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=)
|
rs139279260
|
0.00019
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
NM_001044.5(SLC6A3):c.1515C>T (p.Ser505=)
|
rs114563841
|
0.00019
|
NM_001083614.2(EARS2):c.280A>G (p.Met94Val)
|
rs200139797
|
0.00019
|
NM_001101426.4(CRPPA):c.531C>T (p.His177=)
|
rs376195897
|
0.00019
|
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=)
|
rs199530601
|
0.00019
|
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)
|
rs371112962
|
0.00019
|
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=)
|
rs373491498
|
0.00019
|
NM_001161352.2(KCNMA1):c.1287G>T (p.Leu429=)
|
rs147378590
|
0.00019
|
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)
|
rs146878122
|
0.00019
|
NM_001165963.4(SCN1A):c.694+10A>G
|
rs373417440
|
0.00019
|
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)
|
rs553367989
|
0.00019
|
NM_001194998.2(CEP152):c.2920C>A (p.Gln974Lys)
|
rs370745843
|
0.00019
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
NM_001267550.2(TTN):c.101262A>G (p.Gly33754=)
|
rs374878689
|
0.00019
|
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His)
|
rs370137295
|
0.00019
|
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His)
|
rs181067357
|
0.00019
|
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile)
|
rs367854582
|
0.00019
|
NM_001267550.2(TTN):c.23387G>A (p.Arg7796Gln)
|
rs267599059
|
0.00019
|
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln)
|
rs201420077
|
0.00019
|
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)
|
rs200831060
|
0.00019
|
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met)
|
rs72647868
|
0.00019
|
NM_001267550.2(TTN):c.39548-8A>G
|
rs369594816
|
0.00019
|
NM_001267550.2(TTN):c.5645G>A (p.Arg1882His)
|
rs374605213
|
0.00019
|
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile)
|
rs377682563
|
0.00019
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)
|
rs376539252
|
0.00019
|
NM_001267550.2(TTN):c.99560A>C (p.Lys33187Thr)
|
rs560306385
|
0.00019
|
NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr)
|
rs200625964
|
0.00019
|
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=)
|
rs200698497
|
0.00019
|
NM_001360.3(DHCR7):c.729C>T (p.Pro243=)
|
rs145284180
|
0.00019
|
NM_001360.3(DHCR7):c.99-5C>T
|
rs372886043
|
0.00019
|
NM_001360016.2(G6PD):c.486-14C>T
|
rs200833520
|
0.00019
|
NM_001360016.2(G6PD):c.864+17A>T
|
rs377041776
|
0.00019
|
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=)
|
rs187558439
|
0.00019
|
NM_001374385.1(ATP8B1):c.555-3T>C
|
rs367948617
|
0.00019
|
NM_001384140.1(PCDH15):c.4672-1564T>C
|
rs193186244
|
0.00019
|
NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val)
|
rs139496915
|
0.00019
|
NM_001849.4(COL6A2):c.2961G>A (p.Thr987=)
|
rs149845431
|
0.00019
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
NM_001966.4(EHHADH):c.77C>T (p.Thr26Met)
|
rs138013408
|
0.00019
|
NM_002206.3(ITGA7):c.1317C>T (p.Phe439=)
|
rs200714716
|
0.00019
|
NM_003482.4(KMT2D):c.2214C>T (p.Ser738=)
|
rs201219613
|
0.00019
|
NM_003482.4(KMT2D):c.8382C>A (p.Gly2794=)
|
rs368967997
|
0.00019
|
NM_003722.5(TP63):c.504C>T (p.Asn168=)
|
rs141278696
|
0.00019
|
NM_003737.4(DCHS1):c.7846C>G (p.Pro2616Ala)
|
rs150354113
|
0.00019
|
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)
|
rs200912109
|
0.00019
|
NM_004006.3(DMD):c.6471T>A (p.Thr2157=)
|
rs377080659
|
0.00019
|
NM_004006.3(DMD):c.7521C>T (p.Asn2507=)
|
rs112516305
|
0.00019
|
NM_004086.3(COCH):c.198A>T (p.Val66=)
|
rs28400029
|
0.00019
|
NM_004369.4(COL6A3):c.4146G>A (p.Ser1382=)
|
rs114791158
|
0.00019
|
NM_004369.4(COL6A3):c.9444C>T (p.Asn3148=)
|
rs144291325
|
0.00019
|
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)
|
rs138907450
|
0.00019
|
NM_004482.4(GALNT3):c.51T>C (p.His17=)
|
rs149612790
|
0.00019
|
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala)
|
rs34574788
|
0.00019
|
NM_004698.4(PRPF3):c.501A>G (p.Thr167=)
|
rs146995242
|
0.00019
|
NM_004977.3(KCNC3):c.1429G>A (p.Asp477Asn)
|
rs148033381
|
0.00019
|
NM_005045.4(RELN):c.4260G>A (p.Gly1420=)
|
rs150518726
|
0.00019
|
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=)
|
rs757215612
|
0.00019
|
NM_005548.3(KARS1):c.482+8G>A
|
rs377697859
|
0.00019
|
NM_006261.5(PROP1):c.96G>A (p.Pro32=)
|
rs144314831
|
0.00019
|
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr)
|
rs142416150
|
0.00019
|
NM_014714.4(IFT140):c.2787G>A (p.Thr929=)
|
rs374661866
|
0.00019
|
NM_015910.7(WDPCP):c.13T>C (p.Phe5Leu)
|
rs768802269
|
0.00019
|
NM_016366.3(CABP2):c.345C>A (p.Thr115=)
|
rs376093439
|
0.00019
|
NM_017777.4(MKS1):c.1176G>A (p.Pro392=)
|
rs775169308
|
0.00019
|
NM_017777.4(MKS1):c.1408-3C>T
|
rs377033273
|
0.00019
|
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser)
|
rs200644351
|
0.00019
|
NM_017780.4(CHD7):c.8190G>A (p.Ala2730=)
|
rs371898908
|
0.00019
|
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val)
|
rs376934539
|
0.00019
|
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly)
|
rs139337746
|
0.00019
|
NM_021625.5(TRPV4):c.2559C>T (p.Cys853=)
|
rs139580010
|
0.00019
|
NM_022455.5(NSD1):c.6464-5T>C
|
rs545039997
|
0.00019
|
NM_022455.5(NSD1):c.6464-8G>T
|
rs577262396
|
0.00019
|
NM_032119.4(ADGRV1):c.10697T>C (p.Ile3566Thr)
|
rs201483312
|
0.00019
|
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His)
|
rs202067248
|
0.00019
|
NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His)
|
rs200907244
|
0.00019
|
NM_032119.4(ADGRV1):c.2734+8A>G
|
rs371906040
|
0.00019
|
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)
|
rs193030567
|
0.00019
|
NM_170699.3(GPBAR1):c.531C>T (p.Ala177=)
|
rs200360810
|
0.00019
|
NM_178170.3(NEK8):c.294C>G (p.Ser98=)
|
rs140255077
|
0.00019
|
NM_181303.2(NLGN3):c.20C>T (p.Pro7Leu)
|
rs199925687
|
0.00019
|
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His)
|
rs148522587
|
0.00019
|
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp)
|
rs199761238
|
0.00019
|
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=)
|
rs146705789
|
0.00019
|
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=)
|
rs142251671
|
0.00019
|
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile)
|
rs199613764
|
0.00019
|
NM_194248.3(OTOF):c.327+10C>A
|
rs377042002
|
0.00019
|
NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=)
|
rs114425388
|
0.00019
|
NM_198525.3(KIF7):c.2586C>T (p.Arg862=)
|
rs141097070
|
0.00019
|
NM_201384.3(PLEC):c.11574G>A (p.Thr3858=)
|
rs370526712
|
0.00019
|
NM_201384.3(PLEC):c.12216C>T (p.Phe4072=)
|
rs150427959
|
0.00019
|
NM_201384.3(PLEC):c.8644C>T (p.Leu2882=)
|
rs376081492
|
0.00019
|
NM_201384.3(PLEC):c.8742C>T (p.Phe2914=)
|
rs201211875
|
0.00019
|
NM_000023.4(SGCA):c.80C>T (p.Thr27Met)
|
rs565069721
|
0.00018
|
NM_000145.4(FSHR):c.312G>A (p.Lys104=)
|
rs147355964
|
0.00018
|
NM_000152.5(GAA):c.2253C>T (p.Leu751=)
|
rs140441758
|
0.00018
|
NM_000392.5(ABCC2):c.1950G>A (p.Ser650=)
|
rs138673546
|
0.00018
|
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His)
|
rs373288848
|
0.00018
|
NM_000451.4(SHOX):c.577G>A (p.Ala193Thr)
|
rs376330042
|
0.00018
|
NM_000540.3(RYR1):c.8733C>A (p.Leu2911=)
|
rs200427576
|
0.00018
|
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr)
|
rs141467566
|
0.00018
|
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)
|
rs201312753
|
0.00018
|
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)
|
rs202123283
|
0.00018
|
NM_001130987.2(DYSF):c.316C>T (p.Leu106=)
|
rs374934430
|
0.00018
|
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr)
|
rs199937246
|
0.00018
|
NM_001244008.2(KIF1A):c.4554C>T (p.Ser1518=)
|
rs775395101
|
0.00018
|
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)
|
rs372304158
|
0.00018
|
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser)
|
rs201888760
|
0.00018
|
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser)
|
rs72648922
|
0.00018
|
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)
|
rs55906845
|
0.00018
|
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys)
|
rs201653851
|
0.00018
|
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)
|
rs376982715
|
0.00018
|
NM_001267550.2(TTN):c.30511+3G>A
|
rs563582627
|
0.00018
|
NM_001267550.2(TTN):c.3069C>T (p.Thr1023=)
|
rs371447978
|
0.00018
|
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)
|
rs373491468
|
0.00018
|
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala)
|
rs201922910
|
0.00018
|
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp)
|
rs200728232
|
0.00018
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His)
|
rs202149931
|
0.00018
|
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)
|
rs200766837
|
0.00018
|
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)
|
rs376532382
|
0.00018
|
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)
|
rs369626133
|
0.00018
|
NM_001287.6(CLCN7):c.558C>T (p.Phe186=)
|
rs147280414
|
0.00018
|
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp)
|
rs372311299
|
0.00018
|
NM_001365536.1(SCN9A):c.1177C>T (p.Leu393=)
|
rs184773311
|
0.00018
|
NM_001966.4(EHHADH):c.1414G>A (p.Val472Ile)
|
rs138187022
|
0.00018
|
NM_004006.3(DMD):c.2166A>G (p.Lys722=)
|
rs147580966
|
0.00018
|
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser)
|
rs199588981
|
0.00018
|
NM_004006.3(DMD):c.5933G>T (p.Arg1978Leu)
|
rs148135406
|
0.00018
|
NM_004006.3(DMD):c.94-3C>T
|
rs373907950
|
0.00018
|
NM_004086.3(COCH):c.87C>T (p.Pro29=)
|
rs774290415
|
0.00018
|
NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile)
|
rs199646208
|
0.00018
|
NM_004369.4(COL6A3):c.5652C>T (p.Thr1884=)
|
rs200285455
|
0.00018
|
NM_004463.3(FGD1):c.2289G>A (p.Lys763=)
|
rs150865566
|
0.00018
|
NM_004817.4(TJP2):c.3150G>A (p.Leu1050=)
|
rs141675065
|
0.00018
|
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro)
|
rs760663911
|
0.00018
|
NM_014639.4(SKIC3):c.3603A>G (p.Arg1201=)
|
rs376083373
|
0.00018
|
NM_014874.4(MFN2):c.175+9G>A
|
rs373340717
|
0.00018
|
NM_020822.3(KCNT1):c.867C>A (p.Ile289=)
|
rs761045901
|
0.00018
|
NM_022124.6(CDH23):c.2940G>A (p.Thr980=)
|
rs373631099
|
0.00018
|
NM_022124.6(CDH23):c.3431-6A>T
|
rs377614198
|
0.00018
|
NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr)
|
rs201823140
|
0.00018
|
NM_031220.4(PITPNM3):c.2700C>T (p.Arg900=)
|
rs139901820
|
0.00018
|
NM_080680.3(COL11A2):c.2017-5T>G
|
rs200523422
|
0.00018
|
NM_080680.3(COL11A2):c.233-8G>T
|
rs375268140
|
0.00018
|
NM_138694.4(PKHD1):c.7734-6C>A
|
rs367564272
|
0.00018
|
NM_144498.4(OSBPL2):c.833A>G (p.Lys278Arg)
|
rs199648498
|
0.00018
|
NM_152564.5(VPS13B):c.4225-6G>A
|
rs199755508
|
0.00018
|
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=)
|
rs371505908
|
0.00018
|
NM_182914.3(SYNE2):c.16405C>A (p.Pro5469Thr)
|
rs148492034
|
0.00018
|
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=)
|
rs142327194
|
0.00018
|
NM_182961.4(SYNE1):c.24150C>T (p.His8050=)
|
rs140259310
|
0.00018
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_201384.3(PLEC):c.12564C>T (p.Gly4188=)
|
rs140191309
|
0.00018
|
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met)
|
rs201855218
|
0.00018
|
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His)
|
rs372652727
|
0.00018
|
NM_206933.4(USH2A):c.5619C>T (p.Val1873=)
|
rs138416665
|
0.00018
|
NM_000023.4(SGCA):c.37+10G>T
|
rs200626376
|
0.00017
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
NM_000088.4(COL1A1):c.3100-6C>T
|
rs377123276
|
0.00017
|
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg)
|
rs139707740
|
0.00017
|
NM_000152.5(GAA):c.1848C>T (p.Asp616=)
|
rs377175810
|
0.00017
|
NM_000273.3(GPR143):c.541G>A (p.Val181Met)
|
rs200870584
|
0.00017
|
NM_000295.5(SERPINA1):c.718G>A (p.Val240Met)
|
rs72552401
|
0.00017
|
NM_000392.5(ABCC2):c.1457C>T (p.Thr486Ile)
|
rs17222589
|
0.00017
|
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu)
|
rs150946659
|
0.00017
|
NM_000548.5(TSC2):c.148A>G (p.Met50Val)
|
rs140618379
|
0.00017
|
NM_000719.7(CACNA1C):c.4140+4G>A
|
rs111442547
|
0.00017
|
NM_001031679.3(MSRB3):c.-67G>C
|
rs368104588
|
0.00017
|
NM_001039141.3(TRIOBP):c.3774C>T (p.Pro1258=)
|
rs377749969
|
0.00017
|
NM_001039876.3(SYNE4):c.213C>T (p.Ala71=)
|
rs182159084
|
0.00017
|
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)
|
rs199498900
|
0.00017
|
NM_001083961.2(WDR62):c.1233+7C>G
|
rs537771936
|
0.00017
|
NM_001122630.2(CDKN1C):c.669C>G (p.Gly223=)
|
rs546016935
|
0.00017
|
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=)
|
rs141720146
|
0.00017
|
NM_001130987.2(DYSF):c.772G>A (p.Val258Met)
|
rs150345121
|
0.00017
|
NM_001159699.2(FHL1):c.409G>A (p.Val137Ile)
|
rs139402062
|
0.00017
|
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)
|
rs200497615
|
0.00017
|
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro)
|
rs375177753
|
0.00017
|
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn)
|
rs373378672
|
0.00017
|
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro)
|
rs201065037
|
0.00017
|
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)
|
rs200355367
|
0.00017
|
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=)
|
rs372124201
|
0.00017
|
NM_001267550.2(TTN):c.39166G>T (p.Val13056Leu)
|
rs727504201
|
0.00017
|
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=)
|
rs775954427
|
0.00017
|
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)
|
rs368820294
|
0.00017
|
NM_001267550.2(TTN):c.54718G>A (p.Val18240Ile)
|
rs375141729
|
0.00017
|
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln)
|
rs727504191
|
0.00017
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00017
|
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys)
|
rs185887755
|
0.00017
|
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn)
|
rs200697681
|
0.00017
|
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)
|
rs200775919
|
0.00017
|
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr)
|
rs72648219
|
0.00017
|
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr)
|
rs373727636
|
0.00017
|
NM_001297.5(CNGB1):c.1478C>T (p.Pro493Leu)
|
rs148555948
|
0.00017
|
NM_001351132.2(PEX5):c.316+3G>A
|
rs200776790
|
0.00017
|
NM_001374385.1(ATP8B1):c.1030-9G>A
|
rs201532178
|
0.00017
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00017
|
NM_001848.3(COL6A1):c.1398+10G>A
|
rs143438559
|
0.00017
|
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile)
|
rs372750707
|
0.00017
|
NM_001849.4(COL6A2):c.786C>G (p.Gly262=)
|
rs145500808
|
0.00017
|
NM_002335.4(LRP5):c.*4C>T
|
rs374104266
|
0.00017
|
NM_002618.4(PEX13):c.856G>A (p.Val286Ile)
|
rs201699810
|
0.00017
|
NM_002693.3(POLG):c.2028G>A (p.Ala676=)
|
rs373550219
|
0.00017
|
NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn)
|
rs149642039
|
0.00017
|
NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=)
|
rs370414767
|
0.00017
|
NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile)
|
rs199514789
|
0.00017
|
NM_003839.4(TNFRSF11A):c.321G>A (p.Thr107=)
|
rs772863037
|
0.00017
|
NM_004006.3(DMD):c.5076A>G (p.Thr1692=)
|
rs145181319
|
0.00017
|
NM_004369.4(COL6A3):c.7401G>A (p.Ser2467=)
|
rs377572272
|
0.00017
|
NM_004369.4(COL6A3):c.8805G>A (p.Ala2935=)
|
rs200111289
|
0.00017
|
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser)
|
rs139169188
|
0.00017
|
NM_004393.6(DAG1):c.1308G>A (p.Thr436=)
|
rs143763229
|
0.00017
|
NM_004715.5(CTDP1):c.669G>A (p.Thr223=)
|
rs146831211
|
0.00017
|
NM_004813.4(PEX16):c.999C>T (p.Tyr333=)
|
rs146657010
|
0.00017
|
NM_004817.4(TJP2):c.705G>T (p.Arg235=)
|
rs750625862
|
0.00017
|
NM_004839.4(HOMER2):c.609G>T (p.Gln203His)
|
rs200964994
|
0.00017
|
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln)
|
rs200010849
|
0.00017
|
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala)
|
rs56103026
|
0.00017
|
NM_005633.4(SOS1):c.*4C>T
|
rs188849286
|
0.00017
|
NM_005802.5(TOPORS):c.2019T>A (p.Arg673=)
|
rs760719392
|
0.00017
|
NM_005802.5(TOPORS):c.2862A>C (p.Thr954=)
|
rs143560726
|
0.00017
|
NM_005989.4(AKR1D1):c.396C>T (p.Tyr132=)
|
rs149920599
|
0.00017
|
NM_006019.4(TCIRG1):c.1227C>T (p.His409=)
|
rs145080707
|
0.00017
|
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)
|
rs61754478
|
0.00017
|
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=)
|
rs372430727
|
0.00017
|
NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn)
|
rs200166175
|
0.00017
|
NM_017780.4(CHD7):c.6103+6T>C
|
rs371509438
|
0.00017
|
NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser)
|
rs370972259
|
0.00017
|
NM_018006.5(TRMU):c.853G>A (p.Val285Ile)
|
rs147754663
|
0.00017
|
NM_022124.6(CDH23):c.3486G>C (p.Gly1162=)
|
rs397517324
|
0.00017
|
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln)
|
rs146014987
|
0.00017
|
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=)
|
rs376944136
|
0.00017
|
NM_024596.5(MCPH1):c.1443C>T (p.Ile481=)
|
rs185736569
|
0.00017
|
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=)
|
rs139206060
|
0.00017
|
NM_025074.7(FRAS1):c.990A>G (p.Glu330=)
|
rs374045395
|
0.00017
|
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=)
|
rs182851622
|
0.00017
|
NM_030665.4(RAI1):c.1476C>T (p.Pro492=)
|
rs200887225
|
0.00017
|
NM_030665.4(RAI1):c.5379C>T (p.Gly1793=)
|
rs372539998
|
0.00017
|
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=)
|
rs201089046
|
0.00017
|
NM_033028.5(BBS4):c.1548_1549del (p.Ile516fs)
|
rs398124432
|
0.00017
|
NM_033337.3(CAV3):c.234G>A (p.Thr78=)
|
rs148846096
|
0.00017
|
NM_054012.4(ASS1):c.765C>T (p.Asn255=)
|
rs375579096
|
0.00017
|
NM_054027.6(ANKH):c.846A>G (p.Thr282=)
|
rs139013878
|
0.00017
|
NM_058246.4(DNAJB6):c.706G>A (p.Asp236Asn)
|
rs556999563
|
0.00017
|
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln)
|
rs149629686
|
0.00017
|
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)
|
rs200511208
|
0.00017
|
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=)
|
rs200679577
|
0.00017
|
NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=)
|
rs755688912
|
0.00017
|
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)
|
rs139141291
|
0.00017
|
NM_153240.5(NPHP3):c.2172-4A>G
|
rs375032661
|
0.00017
|
NM_182914.3(SYNE2):c.14139+5G>A
|
rs374778697
|
0.00017
|
NM_182961.4(SYNE1):c.22923C>T (p.Ala7641=)
|
rs2296253
|
0.00017
|
NM_182961.4(SYNE1):c.582-9A>G
|
rs200412221
|
0.00017
|
NM_201384.3(PLEC):c.10011G>A (p.Thr3337=)
|
rs367762942
|
0.00017
|
NM_201384.3(PLEC):c.10521C>T (p.Asp3507=)
|
rs201905804
|
0.00017
|
NM_201384.3(PLEC):c.11207C>T (p.Pro3736Leu)
|
rs77146441
|
0.00017
|
NM_201384.3(PLEC):c.4800C>T (p.His1600=)
|
rs149044728
|
0.00017
|
NM_201384.3(PLEC):c.7383G>T (p.Lys2461Asn)
|
rs371673069
|
0.00017
|
NM_201384.3(PLEC):c.7527C>T (p.Ile2509=)
|
rs782605503
|
0.00017
|
NM_201384.3(PLEC):c.8316C>T (p.Arg2772=)
|
rs782420340
|
0.00017
|
NM_000035.4(ALDOB):c.582T>C (p.Asp194=)
|
rs141988626
|
0.00016
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=)
|
rs570316231
|
0.00016
|
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=)
|
rs1621962
|
0.00016
|
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala)
|
rs141647790
|
0.00016
|
NM_000335.5(SCN5A):c.5334G>A (p.Thr1778=)
|
rs41311121
|
0.00016
|
NM_000350.3(ABCA4):c.5312+8G>A
|
rs187953772
|
0.00016
|
NM_000368.5(TSC1):c.201A>G (p.Pro67=)
|
rs371555137
|
0.00016
|
NM_000443.4(ABCB4):c.80+5A>C
|
rs186976987
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=)
|
rs149185729
|
0.00016
|
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)
|
rs144777676
|
0.00016
|
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
|
rs200950673
|
0.00016
|
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val)
|
rs374936223
|
0.00016
|
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=)
|
rs150389057
|
0.00016
|
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)
|
rs147522594
|
0.00016
|
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)
|
rs144338642
|
0.00016
|
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=)
|
rs370868704
|
0.00016
|
NM_001126121.2(SLC25A19):c.504C>T (p.Ser168=)
|
rs148474667
|
0.00016
|
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp)
|
rs757026025
|
0.00016
|
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn)
|
rs371595464
|
0.00016
|
NM_001130987.2(DYSF):c.225G>A (p.Thr75=)
|
rs200957354
|
0.00016
|
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)
|
rs139983909
|
0.00016
|
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)
|
rs200927282
|
0.00016
|
NM_001164508.2(NEB):c.3879+8G>A
|
rs376511134
|
0.00016
|
NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln)
|
rs145670933
|
0.00016
|
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu)
|
rs151187637
|
0.00016
|
NM_001252024.2(TRPM1):c.2653A>G (p.Ile885Val)
|
rs201650867
|
0.00016
|
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile)
|
rs370300135
|
0.00016
|
NM_001267550.2(TTN):c.104590C>A (p.Pro34864Thr)
|
rs756640084
|
0.00016
|
NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly)
|
rs140289517
|
0.00016
|
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val)
|
rs371826762
|
0.00016
|
NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp)
|
rs577066020
|
0.00016
|
NM_001267550.2(TTN):c.43260C>T (p.Phe14420=)
|
rs372382546
|
0.00016
|
NM_001267550.2(TTN):c.43315C>T (p.Arg14439Cys)
|
rs200914097
|
0.00016
|
NM_001267550.2(TTN):c.53881+5G>A
|
rs753527304
|
0.00016
|
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val)
|
rs182445366
|
0.00016
|
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr)
|
rs200585270
|
0.00016
|
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln)
|
rs141965360
|
0.00016
|
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=)
|
rs72646877
|
0.00016
|
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp)
|
rs187868672
|
0.00016
|
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn)
|
rs192468365
|
0.00016
|
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys)
|
rs199646089
|
0.00016
|
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro)
|
rs201091376
|
0.00016
|
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg)
|
rs375198596
|
0.00016
|
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His)
|
rs202001776
|
0.00016
|
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln)
|
rs200141081
|
0.00016
|
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His)
|
rs397517756
|
0.00016
|
NM_001267550.2(TTN):c.95961C>T (p.Ala31987=)
|
rs369405564
|
0.00016
|
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=)
|
rs368154623
|
0.00016
|
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)
|
rs368423941
|
0.00016
|
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His)
|
rs575939045
|
0.00016
|
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg)
|
rs200052398
|
0.00016
|
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met)
|
rs149309725
|
0.00016
|
NM_001351132.2(PEX5):c.396T>C (p.Thr132=)
|
rs370827246
|
0.00016
|
NM_001367624.2(ZNF469):c.8489G>C (p.Gly2830Ala)
|
rs541325052
|
0.00016
|
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=)
|
rs45596541
|
0.00016
|
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)
|
rs375855445
|
0.00016
|
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=)
|
rs141737883
|
0.00016
|
NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile)
|
rs202103224
|
0.00016
|
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro)
|
rs140187237
|
0.00016
|
NM_001482.3(GATM):c.692C>G (p.Ser231Cys)
|
rs202225656
|
0.00016
|
NM_001614.5(ACTG1):c.825C>T (p.His275=)
|
rs145303691
|
0.00016
|
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp)
|
rs201646745
|
0.00016
|
NM_001848.3(COL6A1):c.429-8C>T
|
rs768951384
|
0.00016
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
NM_002025.4(AFF2):c.2424C>T (p.Asp808=)
|
rs139807832
|
0.00016
|
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=)
|
rs144495959
|
0.00016
|
NM_002335.4(LRP5):c.1299C>T (p.Thr433=)
|
rs145362529
|
0.00016
|
NM_002693.3(POLG):c.1356T>C (p.Tyr452=)
|
rs3176179
|
0.00016
|
NM_002693.3(POLG):c.186A>G (p.Leu62=)
|
rs745310138
|
0.00016
|
NM_002857.4(PEX19):c.21C>G (p.Gly7=)
|
rs140039683
|
0.00016
|
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
|
rs145611571
|
0.00016
|
NM_003193.5(TBCE):c.847A>T (p.Ile283Phe)
|
rs200022583
|
0.00016
|
NM_003482.4(KMT2D):c.1010C>T (p.Ser337Leu)
|
rs200245957
|
0.00016
|
NM_003722.5(TP63):c.992+10G>A
|
rs373106660
|
0.00016
|
NM_004260.4(RECQL4):c.1391-4G>T
|
rs190388213
|
0.00016
|
NM_004447.6(EPS8):c.2195C>T (p.Thr732Met)
|
rs141592108
|
0.00016
|
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp)
|
rs143437991
|
0.00016
|
NM_005996.4(TBX3):c.1080G>C (p.Glu360Asp)
|
rs376189812
|
0.00016
|
NM_006031.6(PCNT):c.9840-4G>A
|
rs199857861
|
0.00016
|
NM_006516.4(SLC2A1):c.972+7del
|
rs531385270
|
0.00016
|
NM_006662.3(SRCAP):c.7723T>A (p.Ser2575Thr)
|
rs368587038
|
0.00016
|
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp)
|
rs80357075
|
0.00016
|
NM_012232.6(CAVIN1):c.*10G>A
|
rs200409122
|
0.00016
|
NM_013382.7(POMT2):c.1206A>C (p.Pro402=)
|
rs142479943
|
0.00016
|
NM_014639.4(SKIC3):c.1446T>C (p.Phe482=)
|
rs142880784
|
0.00016
|
NM_015102.5(NPHP4):c.4107G>A (p.Pro1369=)
|
rs200569946
|
0.00016
|
NM_015272.5(RPGRIP1L):c.3616+7A>G
|
rs373003699
|
0.00016
|
NM_015972.4(POLR1D):c.177C>T (p.Ile59=)
|
rs144597856
|
0.00016
|
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=)
|
rs150942110
|
0.00016
|
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp)
|
rs185873402
|
0.00016
|
NM_016729.3(FOLR1):c.357+8T>A
|
rs886042924
|
0.00016
|
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=)
|
rs181927766
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_019098.5(CNGB3):c.474C>T (p.Pro158=)
|
rs151230930
|
0.00016
|
NM_020779.4(WDR35):c.3252G>A (p.Glu1084=)
|
rs182360785
|
0.00016
|
NM_022124.6(CDH23):c.6050-10C>T
|
rs560760228
|
0.00016
|
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=)
|
rs371932558
|
0.00016
|
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=)
|
rs61756006
|
0.00016
|
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)
|
rs373932824
|
0.00016
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00016
|
NM_025137.4(SPG11):c.979C>G (p.Leu327Val)
|
rs146109825
|
0.00016
|
NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=)
|
rs115239207
|
0.00016
|
NM_032119.4(ADGRV1):c.17613G>A (p.Gln5871=)
|
rs371091564
|
0.00016
|
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln)
|
rs138265409
|
0.00016
|
NM_080680.3(COL11A2):c.4863+7G>A
|
rs200947059
|
0.00016
|
NM_080916.3(DGUOK):c.366G>C (p.Gln122His)
|
rs199645258
|
0.00016
|
NM_133379.5(TTN):c.12524C>A (p.Ser4175Tyr)
|
rs72647899
|
0.00016
|
NM_133379.5(TTN):c.15122C>G (p.Thr5041Arg)
|
rs148791107
|
0.00016
|
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg)
|
rs199546324
|
0.00016
|
NM_138691.3(TMC1):c.2070G>A (p.Ala690=)
|
rs145757452
|
0.00016
|
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=)
|
rs138989655
|
0.00016
|
NM_138694.4(PKHD1):c.633G>A (p.Gly211=)
|
rs144025892
|
0.00016
|
NM_138694.4(PKHD1):c.8187C>A (p.Ala2729=)
|
rs149310653
|
0.00016
|
NM_170707.4(LMNA):c.1656C>T (p.Asp552=)
|
rs370219874
|
0.00016
|
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn)
|
rs373671419
|
0.00016
|
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
|
rs150924946
|
0.00016
|
NM_173660.5(DOK7):c.957C>G (p.Pro319=)
|
rs777573281
|
0.00016
|
NM_174878.3(CLRN1):c.226T>C (p.Leu76=)
|
rs139829306
|
0.00016
|
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met)
|
rs202173395
|
0.00016
|
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala)
|
rs201313856
|
0.00016
|
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn)
|
rs142747430
|
0.00016
|
NM_201384.3(PLEC):c.11823C>T (p.Asp3941=)
|
rs201426199
|
0.00016
|
NM_201384.3(PLEC):c.12444G>A (p.Thr4148=)
|
rs143548638
|
0.00016
|
NM_201384.3(PLEC):c.2535C>T (p.Ser845=)
|
rs199721954
|
0.00016
|
NM_201384.3(PLEC):c.4446G>A (p.Ala1482=)
|
rs782202249
|
0.00016
|
NM_201384.3(PLEC):c.5582C>T (p.Ala1861Val)
|
rs200949161
|
0.00016
|
NM_201384.3(PLEC):c.9692G>A (p.Arg3231His)
|
rs377610697
|
0.00016
|
NM_206933.4(USH2A):c.9037G>A (p.Ala3013Thr)
|
rs149813671
|
0.00016
|
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=)
|
rs202019404
|
0.00015
|
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=)
|
rs779774302
|
0.00015
|
NM_000117.3(EMD):c.537G>A (p.Leu179=)
|
rs368661339
|
0.00015
|
NM_000152.5(GAA):c.2052G>A (p.Pro684=)
|
rs546463058
|
0.00015
|
NM_000316.3(PTH1R):c.638+9G>A
|
rs371052201
|
0.00015
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00015
|
NM_000443.4(ABCB4):c.366A>G (p.Gly122=)
|
rs113445400
|
0.00015
|
NM_000492.4(CFTR):c.360G>A (p.Ala120=)
|
rs1800077
|
0.00015
|
NM_000528.4(MAN2B1):c.1928+10G>C
|
rs200579436
|
0.00015
|
NM_000548.5(TSC2):c.300G>A (p.Ala100=)
|
rs45517100
|
0.00015
|
NM_000548.5(TSC2):c.4044C>T (p.His1348=)
|
rs137854084
|
0.00015
|
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro)
|
rs369438564
|
0.00015
|
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)
|
rs199473660
|
0.00015
|
NM_001079802.2(FKTN):c.333T>C (p.Thr111=)
|
rs141729611
|
0.00015
|
NM_001083961.2(WDR62):c.3087C>T (p.Cys1029=)
|
rs141344823
|
0.00015
|
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=)
|
rs370735674
|
0.00015
|
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=)
|
rs782536136
|
0.00015
|
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)
|
rs727503832
|
0.00015
|
NM_001128178.3(NPHP1):c.771+33G>A
|
rs751388694
|
0.00015
|
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=)
|
rs373744398
|
0.00015
|
NM_001161352.2(KCNMA1):c.192C>G (p.Pro64=)
|
rs143562140
|
0.00015
|
NM_001200.4(BMP2):c.1041G>A (p.Thr347=)
|
rs143654141
|
0.00015
|
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=)
|
rs181679744
|
0.00015
|
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)
|
rs115150240
|
0.00015
|
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)
|
rs376634193
|
0.00015
|
NM_001267550.2(TTN):c.26928G>A (p.Leu8976=)
|
rs370973715
|
0.00015
|
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp)
|
rs139636676
|
0.00015
|
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro)
|
rs369992659
|
0.00015
|
NM_001267550.2(TTN):c.48624T>C (p.Pro16208=)
|
rs72677240
|
0.00015
|
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)
|
rs367566671
|
0.00015
|
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His)
|
rs370135374
|
0.00015
|
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)
|
rs201541213
|
0.00015
|
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser)
|
rs776256093
|
0.00015
|
NM_001267550.2(TTN):c.89946C>T (p.Val29982=)
|
rs373311459
|
0.00015
|
NM_001267550.2(TTN):c.93570T>A (p.Asn31190Lys)
|
rs746309005
|
0.00015
|
NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr)
|
rs374295768
|
0.00015
|
NM_001292063.2(OTOG):c.2871G>A (p.Val957=)
|
rs539784682
|
0.00015
|
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=)
|
rs377088951
|
0.00015
|
NM_001376.5(DYNC1H1):c.3156+5G>A
|
rs200905961
|
0.00015
|
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His)
|
rs148321416
|
0.00015
|
NM_001849.4(COL6A2):c.1599C>T (p.Arg533=)
|
rs373635709
|
0.00015
|
NM_001849.4(COL6A2):c.2850C>T (p.Gly950=)
|
rs751192681
|
0.00015
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00015
|
NM_002485.5(NBN):c.38-10T>A
|
rs556807466
|
0.00015
|
NM_002633.3(PGM1):c.1600-3C>T
|
rs375450688
|
0.00015
|
NM_002979.5(SCP2):c.348C>T (p.Val116=)
|
rs202234745
|
0.00015
|
NM_003482.4(KMT2D):c.1378C>A (p.Pro460Thr)
|
rs201089405
|
0.00015
|
NM_003482.4(KMT2D):c.2232A>C (p.Ser744=)
|
rs200155807
|
0.00015
|
NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=)
|
rs137955659
|
0.00015
|
NM_003673.4(TCAP):c.270G>A (p.Pro90=)
|
rs372538567
|
0.00015
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00015
|
NM_004006.3(DMD):c.4072-3T>C
|
rs751657094
|
0.00015
|
NM_004006.3(DMD):c.7578G>A (p.Gln2526=)
|
rs142236825
|
0.00015
|
NM_004385.5(VCAN):c.7065C>T (p.Ile2355=)
|
rs727504214
|
0.00015
|
NM_004385.5(VCAN):c.8621C>T (p.Ala2874Val)
|
rs147798761
|
0.00015
|
NM_004393.6(DAG1):c.1719C>T (p.His573=)
|
rs146157416
|
0.00015
|
NM_004560.4(ROR2):c.380C>T (p.Thr127Met)
|
rs375080866
|
0.00015
|
NM_004614.5(TK2):c.680C>T (p.Pro227Leu)
|
rs754140768
|
0.00015
|
NM_004817.4(TJP2):c.1473C>A (p.Ala491=)
|
rs138509345
|
0.00015
|
NM_004959.5(NR5A1):c.1266C>T (p.Cys422=)
|
rs140408680
|
0.00015
|
NM_005045.4(RELN):c.2376T>C (p.Gly792=)
|
rs398124191
|
0.00015
|
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys)
|
rs202043599
|
0.00015
|
NM_007254.4(PNKP):c.1413T>C (p.His471=)
|
rs370017666
|
0.00015
|
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=)
|
rs756942664
|
0.00015
|
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)
|
rs146154135
|
0.00015
|
NM_014780.5(CUL7):c.1570-8G>A
|
rs372757013
|
0.00015
|
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00015
|
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=)
|
rs376020564
|
0.00015
|
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=)
|
rs375204972
|
0.00015
|
NM_018965.4(TREM2):c.677-6T>C
|
rs199910080
|
0.00015
|
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln)
|
rs376560330
|
0.00015
|
NM_022356.4(P3H1):c.1721-4C>T
|
rs200901466
|
0.00015
|
NM_022437.3(ABCG8):c.342G>A (p.Leu114=)
|
rs150970273
|
0.00015
|
NM_024301.5(FKRP):c.1405C>T (p.Leu469=)
|
rs143129484
|
0.00015
|
NM_024301.5(FKRP):c.336C>T (p.Ala112=)
|
rs1054339656
|
0.00015
|
NM_030665.4(RAI1):c.1740G>A (p.Pro580=)
|
rs138768616
|
0.00015
|
NM_030665.4(RAI1):c.2422G>A (p.Gly808Arg)
|
rs746952369
|
0.00015
|
NM_032119.4(ADGRV1):c.2538G>A (p.Leu846=)
|
rs375415491
|
0.00015
|
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp)
|
rs200389929
|
0.00015
|
NM_033100.4(CDHR1):c.1471G>A (p.Val491Met)
|
rs138638103
|
0.00015
|
NM_130837.3(OPA1):c.70A>G (p.Ile24Val)
|
rs201520438
|
0.00015
|
NM_138694.4(PKHD1):c.4854C>T (p.Ile1618=)
|
rs140674740
|
0.00015
|
NM_139058.3(ARX):c.1119+6C>T
|
rs201300786
|
0.00015
|
NM_153240.5(NPHP3):c.621A>G (p.Val207=)
|
rs139693694
|
0.00015
|
NM_153240.5(NPHP3):c.670+6T>C
|
rs190074663
|
0.00015
|
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)
|
rs199680057
|
0.00015
|
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala)
|
rs374946613
|
0.00015
|
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu)
|
rs200909650
|
0.00015
|
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe)
|
rs200424447
|
0.00015
|
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=)
|
rs118022241
|
0.00015
|
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=)
|
rs185829704
|
0.00015
|
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser)
|
rs201765507
|
0.00015
|
NM_201384.3(PLEC):c.11597G>A (p.Arg3866His)
|
rs377150241
|
0.00015
|
NM_201384.3(PLEC):c.11657G>A (p.Arg3886His)
|
rs368152307
|
0.00015
|
NM_201384.3(PLEC):c.13470C>T (p.Arg4490=)
|
rs531535217
|
0.00015
|
NM_201384.3(PLEC):c.3279G>A (p.Leu1093=)
|
rs371818099
|
0.00015
|
NM_201384.3(PLEC):c.5520C>T (p.Ala1840=)
|
rs374790646
|
0.00015
|
NM_201384.3(PLEC):c.6399G>A (p.Ala2133=)
|
rs375489890
|
0.00015
|
NM_201384.3(PLEC):c.897G>A (p.Thr299=)
|
rs377035835
|
0.00015
|
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro)
|
rs145114473
|
0.00015
|
NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala)
|
rs138574386
|
0.00015
|
NM_213599.3(ANO5):c.279C>T (p.Asp93=)
|
rs148516756
|
0.00015
|
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys)
|
rs187046823
|
0.00014
|
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=)
|
rs201919331
|
0.00014
|
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser)
|
rs140646380
|
0.00014
|
NM_000152.5(GAA):c.1593C>T (p.Asp531=)
|
rs138732016
|
0.00014
|
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)
|
rs143966918
|
0.00014
|
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=)
|
rs372502369
|
0.00014
|
NM_000268.4(NF2):c.107A>G (p.Asn36Ser)
|
rs372279458
|
0.00014
|
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)
|
rs375307057
|
0.00014
|
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)
|
rs118203395
|
0.00014
|
NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=)
|
rs140483001
|
0.00014
|
NM_000492.4(CFTR):c.2559T>C (p.Ile853=)
|
rs1800104
|
0.00014
|
NM_000540.3(RYR1):c.2319C>T (p.Asp773=)
|
rs374924686
|
0.00014
|
NM_000540.3(RYR1):c.641C>T (p.Thr214Met)
|
rs727504129
|
0.00014
|
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg)
|
rs144465428
|
0.00014
|
NM_000543.5(SMPD1):c.708G>A (p.Pro236=)
|
rs374604948
|
0.00014
|
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser)
|
rs202244080
|
0.00014
|
NM_000548.5(TSC2):c.4493+7C>A
|
rs199943270
|
0.00014
|
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met)
|
rs727503835
|
0.00014
|
NM_000942.5(PPIB):c.569G>A (p.Arg190Gln)
|
rs200864554
|
0.00014
|
NM_001004334.4(GPR179):c.5058C>T (p.Ala1686=)
|
rs376750375
|
0.00014
|
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln)
|
rs147003118
|
0.00014
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
NM_001077365.2(POMT1):c.129C>T (p.Asp43=)
|
rs200465419
|
0.00014
|
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=)
|
rs782748026
|
0.00014
|
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=)
|
rs191337920
|
0.00014
|
NM_001130987.2(DYSF):c.279C>T (p.Leu93=)
|
rs138870937
|
0.00014
|
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn)
|
rs149715258
|
0.00014
|
NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=)
|
rs371596040
|
0.00014
|
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=)
|
rs116478064
|
0.00014
|
NM_001252024.2(TRPM1):c.924G>A (p.Ser308=)
|
rs376610188
|
0.00014
|
NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=)
|
rs375625664
|
0.00014
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00014
|
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)
|
rs371535721
|
0.00014
|
NM_001267550.2(TTN):c.104605G>A (p.Glu34869Lys)
|
rs563430855
|
0.00014
|
NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met)
|
rs371455094
|
0.00014
|
NM_001267550.2(TTN):c.20108G>A (p.Arg6703Gln)
|
rs546821182
|
0.00014
|
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg)
|
rs553548392
|
0.00014
|
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg)
|
rs367826445
|
0.00014
|
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys)
|
rs200902055
|
0.00014
|
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys)
|
rs201081803
|
0.00014
|
NM_001267550.2(TTN):c.33838C>T (p.Pro11280Ser)
|
rs374449452
|
0.00014
|
NM_001267550.2(TTN):c.35313G>A (p.Pro11771=)
|
rs369739111
|
0.00014
|
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu)
|
rs374497665
|
0.00014
|
NM_001267550.2(TTN):c.50059A>G (p.Ile16687Val)
|
rs727504194
|
0.00014
|
NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met)
|
rs373527448
|
0.00014
|
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)
|
rs375006117
|
0.00014
|
NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln)
|
rs374656017
|
0.00014
|
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)
|
rs369503828
|
0.00014
|
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr)
|
rs200471370
|
0.00014
|
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr)
|
rs148067743
|
0.00014
|
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln)
|
rs200843338
|
0.00014
|
NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys)
|
rs201688358
|
0.00014
|
NM_001267550.2(TTN):c.86025G>A (p.Pro28675=)
|
rs369528150
|
0.00014
|
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=)
|
rs72648230
|
0.00014
|
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp)
|
rs72648235
|
0.00014
|
NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp)
|
rs200022152
|
0.00014
|
NM_001267550.2(TTN):c.91119A>G (p.Lys30373=)
|
rs192167542
|
0.00014
|
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)
|
rs374063064
|
0.00014
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
NM_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro)
|
rs202224167
|
0.00014
|
NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile)
|
rs189261750
|
0.00014
|
NM_001351132.2(PEX5):c.129A>G (p.Gly43=)
|
rs932238098
|
0.00014
|
NM_001353214.3(DYM):c.534A>G (p.Thr178=)
|
rs775696326
|
0.00014
|
NM_001367624.2(ZNF469):c.4422G>A (p.Ala1474=)
|
rs368877287
|
0.00014
|
NM_001374385.1(ATP8B1):c.2337C>T (p.Tyr779=)
|
rs764863689
|
0.00014
|
NM_001374385.1(ATP8B1):c.2928G>A (p.Ala976=)
|
rs201803908
|
0.00014
|
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=)
|
rs376746356
|
0.00014
|
NM_001379081.2(FREM1):c.3471+9C>T
|
rs377668876
|
0.00014
|
NM_001453.3(FOXC1):c.78C>T (p.Tyr26=)
|
rs545478008
|
0.00014
|
NM_001793.6(CDH3):c.1704G>A (p.Thr568=)
|
rs561193756
|
0.00014
|
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=)
|
rs369802454
|
0.00014
|
NM_001848.3(COL6A1):c.348C>T (p.Ser116=)
|
rs189444981
|
0.00014
|
NM_001849.4(COL6A2):c.567C>T (p.Ala189=)
|
rs563505047
|
0.00014
|
NM_002241.5(KCNJ10):c.688C>T (p.Arg230Trp)
|
rs149615470
|
0.00014
|
NM_002473.6(MYH9):c.4024C>T (p.Arg1342Trp)
|
rs147901502
|
0.00014
|
NM_002474.3(MYH11):c.1017C>T (p.Ser339=)
|
rs112161189
|
0.00014
|
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val)
|
rs112948385
|
0.00014
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
NM_002979.5(SCP2):c.1074C>T (p.Gly358=)
|
rs74638331
|
0.00014
|
NM_003049.4(SLC10A1):c.877C>G (p.Gln293Glu)
|
rs189313778
|
0.00014
|
NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala)
|
rs766925398
|
0.00014
|
NM_003482.4(KMT2D):c.2847G>A (p.Pro949=)
|
rs369436545
|
0.00014
|
NM_003482.4(KMT2D):c.5319+3G>A
|
rs372897046
|
0.00014
|
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)
|
rs3737311
|
0.00014
|
NM_004006.3(DMD):c.1603-4C>A
|
rs377223643
|
0.00014
|
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)
|
rs760733415
|
0.00014
|
NM_004098.4(EMX2):c.653G>A (p.Gly218Asp)
|
rs200981903
|
0.00014
|
NM_004565.3(PEX14):c.303C>T (p.Pro101=)
|
rs199552789
|
0.00014
|
NM_004817.4(TJP2):c.1818G>A (p.Ser606=)
|
rs527789195
|
0.00014
|
NM_005045.4(RELN):c.3411C>T (p.Gly1137=)
|
rs137974322
|
0.00014
|
NM_005857.5(ZMPSTE24):c.933A>G (p.Glu311=)
|
rs150740479
|
0.00014
|
NM_006005.3(WFS1):c.2054G>A (p.Arg685His)
|
rs142668478
|
0.00014
|
NM_006662.3(SRCAP):c.4120C>T (p.Leu1374Phe)
|
rs777744269
|
0.00014
|
NM_012470.4(TNPO3):c.30C>T (p.Leu10=)
|
rs138263703
|
0.00014
|
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=)
|
rs376416252
|
0.00014
|
NM_015102.5(NPHP4):c.3309C>T (p.His1103=)
|
rs200320780
|
0.00014
|
NM_015340.4(LARS2):c.1383T>C (p.Ile461=)
|
rs35347543
|
0.00014
|
NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His)
|
rs374247020
|
0.00014
|
NM_018136.5(ASPM):c.1980C>T (p.Ile660=)
|
rs151087446
|
0.00014
|
NM_018136.5(ASPM):c.7569A>G (p.Gln2523=)
|
rs148494695
|
0.00014
|
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln)
|
rs199772480
|
0.00014
|
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met)
|
rs539139475
|
0.00014
|
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
|
rs147219360
|
0.00014
|
NM_022437.3(ABCG8):c.1647C>T (p.Ala549=)
|
rs369736263
|
0.00014
|
NM_024753.5(TTC21B):c.549T>C (p.Gly183=)
|
rs141664029
|
0.00014
|
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu)
|
rs146711478
|
0.00014
|
NM_025193.4(HSD3B7):c.714C>T (p.His238=)
|
rs147510106
|
0.00014
|
NM_030665.4(RAI1):c.2004C>T (p.Pro668=)
|
rs398124414
|
0.00014
|
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met)
|
rs368106957
|
0.00014
|
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=)
|
rs140017436
|
0.00014
|
NM_133497.4(KCNV2):c.441C>A (p.Asp147Glu)
|
rs146659188
|
0.00014
|
NM_138694.4(PKHD1):c.977-7C>G
|
rs1054774956
|
0.00014
|
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser)
|
rs369180298
|
0.00014
|
NM_170699.3(GPBAR1):c.334A>G (p.Met112Val)
|
rs202032682
|
0.00014
|
NM_182961.4(SYNE1):c.25120-6A>G
|
rs201898019
|
0.00014
|
NM_194248.3(OTOF):c.446C>T (p.Thr149Met)
|
rs140454738
|
0.00014
|
NM_201384.3(PLEC):c.11476C>T (p.Arg3826Cys)
|
rs781836500
|
0.00014
|
NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly)
|
rs368212208
|
0.00014
|
NM_201384.3(PLEC):c.1283C>T (p.Ala428Val)
|
rs200893203
|
0.00014
|
NM_201384.3(PLEC):c.1305G>A (p.Ala435=)
|
rs369877618
|
0.00014
|
NM_201384.3(PLEC):c.13242C>T (p.Arg4414=)
|
rs200589588
|
0.00014
|
NM_201384.3(PLEC):c.2477A>G (p.Asp826Gly)
|
rs369344419
|
0.00014
|
NM_201384.3(PLEC):c.4587C>T (p.Arg1529=)
|
rs369723574
|
0.00014
|
NM_201384.3(PLEC):c.772C>T (p.Leu258=)
|
rs372233686
|
0.00014
|
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=)
|
rs368883473
|
0.00014
|
NM_203475.3(PORCN):c.288C>T (p.Gly96=)
|
rs200263603
|
0.00014
|
NM_206933.4(USH2A):c.1590A>T (p.Thr530=)
|
rs144343161
|
0.00014
|
NM_000020.3(ACVRL1):c.465C>T (p.Ser155=)
|
rs143735377
|
0.00013
|
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)
|
rs200137051
|
0.00013
|
NM_000023.4(SGCA):c.408C>T (p.Ala136=)
|
rs143551687
|
0.00013
|
NM_000023.4(SGCA):c.819G>T (p.Pro273=)
|
rs35972733
|
0.00013
|
NM_000026.4(ADSL):c.735A>T (p.Arg245=)
|
rs143977255
|
0.00013
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr)
|
rs80358726
|
0.00013
|
NM_000071.3(CBS):c.1072G>A (p.Val358Met)
|
rs148589243
|
0.00013
|
NM_000088.4(COL1A1):c.627C>T (p.Gly209=)
|
rs201136122
|
0.00013
|
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)
|
rs142352627
|
0.00013
|
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)
|
rs139983160
|
0.00013
|
NM_000141.5(FGFR2):c.568C>T (p.Arg190Trp)
|
rs147987917
|
0.00013
|
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)
|
rs145172999
|
0.00013
|
NM_000152.5(GAA):c.1860C>T (p.Ser620=)
|
rs370369972
|
0.00013
|
NM_000214.3(JAG1):c.2286C>T (p.Asn762=)
|
rs144190443
|
0.00013
|
NM_000218.3(KCNQ1):c.759C>T (p.Ser253=)
|
rs752457145
|
0.00013
|
NM_000255.4(MMUT):c.385+14G>A
|
rs199992904
|
0.00013
|
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=)
|
rs141659629
|
0.00013
|
NM_000371.4(TTR):c.384C>T (p.Ala128=)
|
rs143906738
|
0.00013
|
NM_000388.4(CASR):c.1287C>T (p.His429=)
|
rs746515147
|
0.00013
|
NM_000392.5(ABCC2):c.2714G>A (p.Arg905Lys)
|
rs201874841
|
0.00013
|
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His)
|
rs372241697
|
0.00013
|
NM_000440.3(PDE6A):c.594G>A (p.Val198=)
|
rs398123394
|
0.00013
|
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=)
|
rs541538556
|
0.00013
|
NM_000463.3(UGT1A1):c.1026A>T (p.Pro342=)
|
rs747062491
|
0.00013
|
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)
|
rs201504674
|
0.00013
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala)
|
rs45517284
|
0.00013
|
NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=)
|
rs151227241
|
0.00013
|
NM_000875.5(IGF1R):c.84G>A (p.Thr28=)
|
rs372748482
|
0.00013
|
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)
|
rs201371633
|
0.00013
|
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=)
|
rs200916353
|
0.00013
|
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser)
|
rs374912618
|
0.00013
|
NM_001083961.2(WDR62):c.2766C>T (p.Arg922=)
|
rs373906889
|
0.00013
|
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val)
|
rs137893207
|
0.00013
|
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser)
|
rs143815396
|
0.00013
|
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=)
|
rs151276652
|
0.00013
|
NM_001134831.2(AHI1):c.2808A>G (p.Thr936=)
|
rs373772212
|
0.00013
|
NM_001145809.2(MYH14):c.4740C>T (p.Asp1580=)
|
rs751909208
|
0.00013
|
NM_001161352.2(KCNMA1):c.711C>T (p.Asn237=)
|
rs139309224
|
0.00013
|
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser)
|
rs199710125
|
0.00013
|
NM_001182.5(ALDH7A1):c.552C>T (p.Pro184=)
|
rs369859575
|
0.00013
|
NM_001182.5(ALDH7A1):c.63T>C (p.Pro21=)
|
rs368427726
|
0.00013
|
NM_001267550.2(TTN):c.10115-4G>A
|
rs367648529
|
0.00013
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00013
|
NM_001267550.2(TTN):c.14746A>G (p.Lys4916Glu)
|
rs376597173
|
0.00013
|
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His)
|
rs200941841
|
0.00013
|
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu)
|
rs199778910
|
0.00013
|
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn)
|
rs199619070
|
0.00013
|
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=)
|
rs72648997
|
0.00013
|
NM_001267550.2(TTN):c.28320C>T (p.Gly9440=)
|
rs375083775
|
0.00013
|
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys)
|
rs72650035
|
0.00013
|
NM_001267550.2(TTN):c.35037G>A (p.Pro11679=)
|
rs369095270
|
0.00013
|
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=)
|
rs373429851
|
0.00013
|
NM_001267550.2(TTN):c.43417G>C (p.Asp14473His)
|
rs397517573
|
0.00013
|
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)
|
rs200944827
|
0.00013
|
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=)
|
rs72677247
|
0.00013
|
NM_001267550.2(TTN):c.52331G>A (p.Arg17444His)
|
rs376080116
|
0.00013
|
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu)
|
rs200968679
|
0.00013
|
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser)
|
rs199837769
|
0.00013
|
NM_001267550.2(TTN):c.56456A>G (p.Asn18819Ser)
|
rs201337786
|
0.00013
|
NM_001267550.2(TTN):c.6359G>A (p.Arg2120Gln)
|
rs141142920
|
0.00013
|
NM_001267550.2(TTN):c.68640G>A (p.Lys22880=)
|
rs370292933
|
0.00013
|
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)
|
rs375693396
|
0.00013
|
NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys)
|
rs149660690
|
0.00013
|
NM_001267550.2(TTN):c.80527T>C (p.Leu26843=)
|
rs142004835
|
0.00013
|
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser)
|
rs201422612
|
0.00013
|
NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu)
|
rs146636599
|
0.00013
|
NM_001267550.2(TTN):c.85443A>G (p.Ala28481=)
|
rs373326137
|
0.00013
|
NM_001267550.2(TTN):c.86355T>C (p.Asn28785=)
|
rs745857020
|
0.00013
|
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile)
|
rs201687390
|
0.00013
|
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)
|
rs72648240
|
0.00013
|
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg)
|
rs201019681
|
0.00013
|
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=)
|
rs373509153
|
0.00013
|
NM_001267550.2(TTN):c.96904+4T>C
|
rs373514079
|
0.00013
|
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu)
|
rs146199720
|
0.00013
|
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys)
|
rs377599569
|
0.00013
|
NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys)
|
rs186244950
|
0.00013
|
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn)
|
rs80293130
|
0.00013
|
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)
|
rs139364109
|
0.00013
|
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu)
|
rs147750747
|
0.00013
|
NM_001371928.1(AHDC1):c.2438G>A (p.Arg813His)
|
rs138299564
|
0.00013
|
NM_001376256.1(CRYM):c.8G>T (p.Arg3Leu)
|
rs149797560
|
0.00013
|
NM_001384140.1(PCDH15):c.1548G>A (p.Val516=)
|
rs138177808
|
0.00013
|
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)
|
rs146199636
|
0.00013
|
NM_001848.3(COL6A1):c.2820G>A (p.Leu940=)
|
rs111451684
|
0.00013
|
NM_001849.4(COL6A2):c.1836C>T (p.Gly612=)
|
rs141257132
|
0.00013
|
NM_001849.4(COL6A2):c.219C>T (p.Phe73=)
|
rs374336669
|
0.00013
|
NM_001849.4(COL6A2):c.2244C>T (p.Cys748=)
|
rs201426778
|
0.00013
|
NM_001966.4(EHHADH):c.1608G>A (p.Gly536=)
|
rs141355337
|
0.00013
|
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala)
|
rs374922166
|
0.00013
|
NM_002437.5(MPV17):c.61C>G (p.Leu21Val)
|
rs200504529
|
0.00013
|
NM_002979.5(SCP2):c.15G>T (p.Pro5=)
|
rs147697594
|
0.00013
|
NM_003106.4(SOX2):c.54G>C (p.Ser18=)
|
rs757913217
|
0.00013
|
NM_003482.4(KMT2D):c.9482T>C (p.Met3161Thr)
|
rs199831827
|
0.00013
|
NM_004006.3(DMD):c.357+5G>A
|
rs778431187
|
0.00013
|
NM_004006.3(DMD):c.7988C>G (p.Thr2663Arg)
|
rs144103124
|
0.00013
|
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys)
|
rs745868830
|
0.00013
|
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys)
|
rs373832446
|
0.00013
|
NM_004006.3(DMD):c.8706G>A (p.Arg2902=)
|
rs899851642
|
0.00013
|
NM_004369.4(COL6A3):c.5501-4C>G
|
rs143237699
|
0.00013
|
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=)
|
rs141775567
|
0.00013
|
NM_004380.3(CREBBP):c.5747T>C (p.Met1916Thr)
|
rs559294915
|
0.00013
|
NM_004530.6(MMP2):c.932C>T (p.Thr311Met)
|
rs572726028
|
0.00013
|
NM_004817.4(TJP2):c.3063C>T (p.Ala1021=)
|
rs367977493
|
0.00013
|
NM_004817.4(TJP2):c.911G>A (p.Gly304Glu)
|
rs200222645
|
0.00013
|
NM_005045.4(RELN):c.8634A>G (p.Ser2878=)
|
rs377429197
|
0.00013
|
NM_005476.7(GNE):c.804G>A (p.Lys268=)
|
rs141814943
|
0.00013
|
NM_005477.3(HCN4):c.2025C>T (p.Ala675=)
|
rs149033101
|
0.00013
|
NM_005477.3(HCN4):c.621C>G (p.Arg207=)
|
rs727503958
|
0.00013
|
NM_005529.7(HSPG2):c.8076C>T (p.Gly2692=)
|
rs372321167
|
0.00013
|
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu)
|
rs141594736
|
0.00013
|
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu)
|
rs55674815
|
0.00013
|
NM_006031.6(PCNT):c.8947C>T (p.Leu2983Phe)
|
rs372356069
|
0.00013
|
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly)
|
rs144731446
|
0.00013
|
NM_012254.3(SLC27A5):c.1827G>A (p.Gly609=)
|
rs143397900
|
0.00013
|
NM_012254.3(SLC27A5):c.553G>A (p.Val185Ile)
|
rs757127359
|
0.00013
|
NM_012463.4(ATP6V0A2):c.118-7_118-3del
|
rs777322469
|
0.00013
|
NM_013382.7(POMT2):c.1920C>T (p.Gly640=)
|
rs150755807
|
0.00013
|
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp)
|
rs200517685
|
0.00013
|
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)
|
rs186436335
|
0.00013
|
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=)
|
rs374354239
|
0.00013
|
NM_015158.5(KANK1):c.95T>C (p.Phe32Ser)
|
rs183362306
|
0.00013
|
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=)
|
rs189186909
|
0.00013
|
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)
|
rs183419371
|
0.00013
|
NM_015346.4(ZFYVE26):c.879G>A (p.Ser293=)
|
rs199794711
|
0.00013
|
NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr)
|
rs183480366
|
0.00013
|
NM_016356.5(DCDC2):c.349-9C>G
|
rs765613994
|
0.00013
|
NM_017777.4(MKS1):c.1128G>A (p.Thr376=)
|
rs369141016
|
0.00013
|
NM_017780.4(CHD7):c.240G>A (p.Met80Ile)
|
rs199675125
|
0.00013
|
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His)
|
rs377535841
|
0.00013
|
NM_017780.4(CHD7):c.90G>A (p.Pro30=)
|
rs374464240
|
0.00013
|
NM_018941.4(CLN8):c.207G>A (p.Thr69=)
|
rs368365607
|
0.00013
|
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys)
|
rs75602337
|
0.00013
|
NM_022124.6(CDH23):c.1803C>G (p.Val601=)
|
rs201024982
|
0.00013
|
NM_022367.4(SEMA4A):c.1086A>C (p.Ser362=)
|
rs145993678
|
0.00013
|
NM_024408.4(NOTCH2):c.4929G>A (p.Thr1643=)
|
rs587697719
|
0.00013
|
NM_024649.5(BBS1):c.1474-8C>T
|
rs398124402
|
0.00013
|
NM_024685.4(BBS10):c.372T>A (p.Ser124=)
|
rs143366878
|
0.00013
|
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu)
|
rs147523309
|
0.00013
|
NM_025074.7(FRAS1):c.10128C>T (p.His3376=)
|
rs369331788
|
0.00013
|
NM_032119.4(ADGRV1):c.5264C>T (p.Ala1755Val)
|
rs185971062
|
0.00013
|
NM_032119.4(ADGRV1):c.6229G>A (p.Glu2077Lys)
|
rs200372116
|
0.00013
|
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=)
|
rs375077719
|
0.00013
|
NM_057176.3(BSND):c.102C>T (p.Tyr34=)
|
rs141403253
|
0.00013
|
NM_057176.3(BSND):c.16A>G (p.Thr6Ala)
|
rs201342416
|
0.00013
|
NM_133379.5(TTN):c.15314G>A (p.Arg5105Gln)
|
rs146359866
|
0.00013
|
NM_138694.4(PKHD1):c.2637G>A (p.Thr879=)
|
rs147915980
|
0.00013
|
NM_138694.4(PKHD1):c.831C>T (p.Ile277=)
|
rs142678486
|
0.00013
|
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=)
|
rs371508721
|
0.00013
|
NM_153638.4(PANK2):c.12C>T (p.Leu4=)
|
rs774784800
|
0.00013
|
NM_172107.4(KCNQ2):c.1814C>G (p.Thr605Ser)
|
rs751334184
|
0.00013
|
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=)
|
rs138650597
|
0.00013
|
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=)
|
rs370053768
|
0.00013
|
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=)
|
rs141263831
|
0.00013
|
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=)
|
rs141170182
|
0.00013
|
NM_182961.4(SYNE1):c.21876A>G (p.Gly7292=)
|
rs375826346
|
0.00013
|
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met)
|
rs190867604
|
0.00013
|
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val)
|
rs756300560
|
0.00013
|
NM_201384.3(PLEC):c.6096G>C (p.Ser2032=)
|
rs564245730
|
0.00013
|
NM_201384.3(PLEC):c.6786G>A (p.Thr2262=)
|
rs373922545
|
0.00013
|
NM_201384.3(PLEC):c.7193G>A (p.Arg2398His)
|
rs368343687
|
0.00013
|
NM_201384.3(PLEC):c.7194C>T (p.Arg2398=)
|
rs541134948
|
0.00013
|
NM_201384.3(PLEC):c.9294C>T (p.Ala3098=)
|
rs376753842
|
0.00013
|
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=)
|
rs372015149
|
0.00013
|
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)
|
rs111033514
|
0.00013
|
NM_206933.4(USH2A):c.8016G>A (p.Leu2672=)
|
rs368327746
|
0.00013
|
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)
|
rs528342000
|
0.00013
|
NM_207361.6(FREM2):c.6743-9C>T
|
rs749834830
|
0.00013
|
NM_000067.3(CA2):c.35-7C>A
|
rs371766356
|
0.00012
|
NM_000070.3(CAPN3):c.552G>A (p.Thr184=)
|
rs147808529
|
0.00012
|
NM_000152.5(GAA):c.663C>T (p.Ile221=)
|
rs142878958
|
0.00012
|
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)
|
rs398123230
|
0.00012
|
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)
|
rs367668576
|
0.00012
|
NM_000260.4(MYO7A):c.4441+7C>T
|
rs372493678
|
0.00012
|
NM_000295.5(SERPINA1):c.918-4A>G
|
rs367822021
|
0.00012
|
NM_000335.5(SCN5A):c.4908C>T (p.Ile1636=)
|
rs200569112
|
0.00012
|
NM_000392.5(ABCC2):c.3081C>T (p.Tyr1027=)
|
rs201212360
|
0.00012
|
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys)
|
rs62642481
|
0.00012
|
NM_000883.4(IMPDH1):c.1386G>A (p.Leu462=)
|
rs144587211
|
0.00012
|
NM_001017995.3(SH3PXD2B):c.1542C>T (p.Pro514=)
|
rs780292269
|
0.00012
|
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)
|
rs201236364
|
0.00012
|
NM_001127649.3(PEX26):c.668-5G>T
|
rs767742108
|
0.00012
|
NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met)
|
rs201460699
|
0.00012
|
NM_001145809.2(MYH14):c.4445G>A (p.Arg1482Gln)
|
rs746594902
|
0.00012
|
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=)
|
rs186672543
|
0.00012
|
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln)
|
rs144531477
|
0.00012
|
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)
|
rs397517478
|
0.00012
|
NM_001267550.2(TTN):c.12404A>G (p.Asn4135Ser)
|
rs565638291
|
0.00012
|
NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr)
|
rs374631591
|
0.00012
|
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)
|
rs560537668
|
0.00012
|
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg)
|
rs374882815
|
0.00012
|
NM_001267550.2(TTN):c.204C>T (p.Pro68=)
|
rs201089861
|
0.00012
|
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser)
|
rs375209098
|
0.00012
|
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)
|
rs141961878
|
0.00012
|
NM_001267550.2(TTN):c.30811A>G (p.Ile10271Val)
|
rs182720979
|
0.00012
|
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser)
|
rs201120871
|
0.00012
|
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=)
|
rs368021072
|
0.00012
|
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His)
|
rs201774108
|
0.00012
|
NM_001267550.2(TTN):c.56850G>A (p.Val18950=)
|
rs368068200
|
0.00012
|
NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr)
|
rs78509062
|
0.00012
|
NM_001267550.2(TTN):c.59236G>A (p.Gly19746Ser)
|
rs372802352
|
0.00012
|
NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr)
|
rs397517667
|
0.00012
|
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)
|
rs375676529
|
0.00012
|
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)
|
rs72646889
|
0.00012
|
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=)
|
rs56245285
|
0.00012
|
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=)
|
rs372543652
|
0.00012
|
NM_001267550.2(TTN):c.81157T>A (p.Tyr27053Asn)
|
rs776943572
|
0.00012
|
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)
|
rs368443217
|
0.00012
|
NM_001267550.2(TTN):c.90227C>T (p.Thr30076Met)
|
rs201998913
|
0.00012
|
NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser)
|
rs373722546
|
0.00012
|
NM_001267550.2(TTN):c.92402C>T (p.Ala30801Val)
|
rs372570504
|
0.00012
|
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)
|
rs775769503
|
0.00012
|
NM_001291867.2(NHS):c.1143C>T (p.Cys381=)
|
rs727504042
|
0.00012
|
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr)
|
rs144878564
|
0.00012
|
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met)
|
rs567600444
|
0.00012
|
NM_001360.3(DHCR7):c.1410G>A (p.Leu470=)
|
rs375993195
|
0.00012
|
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)
|
rs745404679
|
0.00012
|
NM_001374353.1(GLI2):c.4147G>T (p.Gly1383Cys)
|
rs143914758
|
0.00012
|
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)
|
rs141133453
|
0.00012
|
NM_001848.3(COL6A1):c.726C>T (p.Asn242=)
|
rs142102852
|
0.00012
|
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=)
|
rs550889206
|
0.00012
|
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg)
|
rs541223359
|
0.00012
|
NM_002979.5(SCP2):c.1469-10T>C
|
rs761545816
|
0.00012
|
NM_003392.7(WNT5A):c.427G>A (p.Ala143Thr)
|
rs998033323
|
0.00012
|
NM_003482.4(KMT2D):c.6409A>G (p.Thr2137Ala)
|
rs543241831
|
0.00012
|
NM_003742.4(ABCB11):c.48G>A (p.Glu16=)
|
rs768192083
|
0.00012
|
NM_004004.6(GJB2):c.120A>C (p.Ala40=)
|
rs561870637
|
0.00012
|
NM_004006.3(DMD):c.4605G>A (p.Thr1535=)
|
rs374871728
|
0.00012
|
NM_004006.3(DMD):c.7820A>T (p.Lys2607Met)
|
rs72466581
|
0.00012
|
NM_004369.4(COL6A3):c.3063A>G (p.Pro1021=)
|
rs200098134
|
0.00012
|
NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=)
|
rs116541926
|
0.00012
|
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=)
|
rs374969185
|
0.00012
|
NM_004530.6(MMP2):c.380+10C>T
|
rs545069128
|
0.00012
|
NM_004560.4(ROR2):c.2286G>A (p.Ser762=)
|
rs143759440
|
0.00012
|
NM_004560.4(ROR2):c.2445G>A (p.Pro815=)
|
rs202010959
|
0.00012
|
NM_004817.4(TJP2):c.1656A>G (p.Gly552=)
|
rs150723764
|
0.00012
|
NM_005379.4(MYO1A):c.2872A>G (p.Ser958Gly)
|
rs184810732
|
0.00012
|
NM_006005.3(WFS1):c.728C>T (p.Ala243Val)
|
rs147147660
|
0.00012
|
NM_006302.3(MOGS):c.249C>G (p.Ala83=)
|
rs764778419
|
0.00012
|
NM_006306.4(SMC1A):c.861G>A (p.Lys287=)
|
rs782543093
|
0.00012
|
NM_006383.4(CIB2):c.192G>A (p.Glu64=)
|
rs145415848
|
0.00012
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
NM_014714.4(IFT140):c.2551G>A (p.Val851Met)
|
rs754753583
|
0.00012
|
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln)
|
rs147693839
|
0.00012
|
NM_015102.5(NPHP4):c.279+6C>T
|
rs199856317
|
0.00012
|
NM_015295.3(SMCHD1):c.2025G>A (p.Glu675=)
|
rs766575963
|
0.00012
|
NM_015346.4(ZFYVE26):c.2742C>T (p.Ser914=)
|
rs140577908
|
0.00012
|
NM_017739.4(POMGNT1):c.652+6G>A
|
rs369289384
|
0.00012
|
NM_017777.4(MKS1):c.515+8C>T
|
rs376823839
|
0.00012
|
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala)
|
rs398124317
|
0.00012
|
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=)
|
rs377723386
|
0.00012
|
NM_017780.4(CHD7):c.8193C>T (p.Ala2731=)
|
rs534427466
|
0.00012
|
NM_018389.5(SLC35C1):c.663G>A (p.Pro221=)
|
rs111773874
|
0.00012
|
NM_018699.4(PRDM5):c.1605C>T (p.His535=)
|
rs150476884
|
0.00012
|
NM_019098.5(CNGB3):c.1833C>T (p.His611=)
|
rs368787128
|
0.00012
|
NM_020754.4(ARHGAP31):c.499G>A (p.Ala167Thr)
|
rs139733647
|
0.00012
|
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=)
|
rs371135108
|
0.00012
|
NM_022437.3(ABCG8):c.578C>T (p.Ala193Val)
|
rs376362072
|
0.00012
|
NM_022455.5(NSD1):c.8048A>G (p.Gln2683Arg)
|
rs374110615
|
0.00012
|
NM_024301.5(FKRP):c.954C>T (p.Cys318=)
|
rs755968761
|
0.00012
|
NM_024408.4(NOTCH2):c.786T>C (p.Asp262=)
|
rs374224226
|
0.00012
|
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)
|
rs727503854
|
0.00012
|
NM_030665.4(RAI1):c.3678G>A (p.Ser1226=)
|
rs144290584
|
0.00012
|
NM_053025.4(MYLK):c.2629G>A (p.Val877Met)
|
rs34542174
|
0.00012
|
NM_080680.3(COL11A2):c.4291C>T (p.Arg1431Trp)
|
rs369126897
|
0.00012
|
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser)
|
rs139116571
|
0.00012
|
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=)
|
rs376709130
|
0.00012
|
NM_153240.5(NPHP3):c.3226C>T (p.Arg1076Trp)
|
rs553665584
|
0.00012
|
NM_153603.4(COG7):c.2013G>A (p.Leu671=)
|
rs370447404
|
0.00012
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00012
|
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His)
|
rs147667464
|
0.00012
|
NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=)
|
rs377113267
|
0.00012
|
NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln)
|
rs375724891
|
0.00012
|
NM_201384.3(PLEC):c.3287G>A (p.Arg1096His)
|
rs375617818
|
0.00012
|
NM_201384.3(PLEC):c.3368C>T (p.Pro1123Leu)
|
rs376494828
|
0.00012
|
NM_201525.4(ADGRG1):c.487A>C (p.Ser163Arg)
|
rs373741981
|
0.00012
|
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=)
|
rs397517991
|
0.00012
|
NM_207361.6(FREM2):c.1737C>T (p.Ile579=)
|
rs144811771
|
0.00012
|
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys)
|
rs369664123
|
0.00011
|
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys)
|
rs574635615
|
0.00011
|
NM_000051.4(ATM):c.2346A>G (p.Leu782=)
|
rs730881285
|
0.00011
|
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=)
|
rs147914333
|
0.00011
|
NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=)
|
rs370231427
|
0.00011
|
NM_000079.4(CHRNA1):c.948C>A (p.Ile316=)
|
rs141733086
|
0.00011
|
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
|
rs144614075
|
0.00011
|
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys)
|
rs56005131
|
0.00011
|
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr)
|
rs372430349
|
0.00011
|
NM_000214.3(JAG1):c.1146C>T (p.Asn382=)
|
rs200133928
|
0.00011
|
NM_000214.3(JAG1):c.2917-7G>A
|
rs201573066
|
0.00011
|
NM_000230.3(LEP):c.21C>T (p.Cys7=)
|
rs201523305
|
0.00011
|
NM_000231.3(SGCG):c.102C>T (p.Arg34=)
|
rs140810408
|
0.00011
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
NM_000271.5(NPC1):c.3393C>T (p.Ile1131=)
|
rs777356809
|
0.00011
|
NM_000286.3(PEX12):c.1002G>A (p.Arg334=)
|
rs200283718
|
0.00011
|
NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr)
|
rs113817720
|
0.00011
|
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)
|
rs542296728
|
0.00011
|
NM_000362.5(TIMP3):c.587G>A (p.Arg196Gln)
|
rs142288050
|
0.00011
|
NM_000372.5(TYR):c.1161T>C (p.Leu387=)
|
rs141967840
|
0.00011
|
NM_000388.4(CASR):c.854G>A (p.Arg285Gln)
|
rs200039241
|
0.00011
|
NM_000391.4(TPP1):c.1653C>G (p.Pro551=)
|
rs372564255
|
0.00011
|
NM_000392.5(ABCC2):c.3834G>A (p.Val1278=)
|
rs150472537
|
0.00011
|
NM_000392.5(ABCC2):c.763C>T (p.Arg255Trp)
|
rs147494662
|
0.00011
|
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met)
|
rs776616540
|
0.00011
|
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=)
|
rs191471887
|
0.00011
|
NM_000503.6(EYA1):c.325T>C (p.Tyr109His)
|
rs141779040
|
0.00011
|
NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=)
|
rs202160739
|
0.00011
|
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)
|
rs202206564
|
0.00011
|
NM_000543.5(SMPD1):c.729C>T (p.Ala243=)
|
rs149476159
|
0.00011
|
NM_000744.7(CHRNA4):c.1715A>G (p.Gln572Arg)
|
rs113794453
|
0.00011
|
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser)
|
rs201963596
|
0.00011
|
NM_000891.3(KCNJ2):c.168T>C (p.Val56=)
|
rs370111593
|
0.00011
|
NM_001015877.2(PHF6):c.414C>T (p.Ser138=)
|
rs200423380
|
0.00011
|
NM_001017995.3(SH3PXD2B):c.1398C>T (p.Pro466=)
|
rs140209484
|
0.00011
|
NM_001040142.2(SCN2A):c.5121G>A (p.Leu1707=)
|
rs377063535
|
0.00011
|
NM_001077365.2(POMT1):c.568C>T (p.Leu190=)
|
rs752931210
|
0.00011
|
NM_001077365.2(POMT1):c.921G>T (p.Leu307=)
|
rs371243573
|
0.00011
|
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=)
|
rs761842188
|
0.00011
|
NM_001101426.4(CRPPA):c.243A>G (p.Leu81=)
|
rs763209907
|
0.00011
|
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=)
|
rs200363918
|
0.00011
|
NM_001110556.2(FLNA):c.6227-7C>T
|
rs370491691
|
0.00011
|
NM_001110556.2(FLNA):c.6993C>T (p.Asp2331=)
|
rs201153928
|
0.00011
|
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)
|
rs369806785
|
0.00011
|
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=)
|
rs753786462
|
0.00011
|
NM_001126121.2(SLC25A19):c.565G>A (p.Ala189Thr)
|
rs144393784
|
0.00011
|
NM_001127222.2(CACNA1A):c.1782-6C>T
|
rs201350764
|
0.00011
|
NM_001130987.2(DYSF):c.2864+8G>A
|
rs371686795
|
0.00011
|
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=)
|
rs200949030
|
0.00011
|
NM_001161352.2(KCNMA1):c.24C>T (p.Gly8=)
|
rs748427000
|
0.00011
|
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=)
|
rs145662732
|
0.00011
|
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)
|
rs544692790
|
0.00011
|
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)
|
rs148442069
|
0.00011
|
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val)
|
rs762317674
|
0.00011
|
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu)
|
rs201905405
|
0.00011
|
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=)
|
rs587780850
|
0.00011
|
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His)
|
rs201611496
|
0.00011
|
NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=)
|
rs199887745
|
0.00011
|
NM_001191061.2(SLC25A22):c.834C>T (p.His278=)
|
rs187824231
|
0.00011
|
NM_001199397.3(NEK1):c.594A>G (p.Thr198=)
|
rs373252814
|
0.00011
|
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)
|
rs397517783
|
0.00011
|
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr)
|
rs377171054
|
0.00011
|
NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr)
|
rs727504609
|
0.00011
|
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)
|
rs200716018
|
0.00011
|
NM_001267550.2(TTN):c.11338G>A (p.Glu3780Lys)
|
rs727504586
|
0.00011
|
NM_001267550.2(TTN):c.1449C>T (p.Ala483=)
|
rs141617218
|
0.00011
|
NM_001267550.2(TTN):c.16121G>A (p.Cys5374Tyr)
|
rs375577529
|
0.00011
|
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=)
|
rs376037792
|
0.00011
|
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=)
|
rs367821526
|
0.00011
|
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)
|
rs370812788
|
0.00011
|
NM_001267550.2(TTN):c.19715-4A>G
|
rs375009631
|
0.00011
|
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=)
|
rs371495674
|
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.27328+5G>A
|
rs397517521
|
0.00011
|
NM_001267550.2(TTN):c.43G>A (p.Val15Ile)
|
rs201857541
|
0.00011
|
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly)
|
rs376273101
|
0.00011
|
NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys)
|
rs397517600
|
0.00011
|
NM_001267550.2(TTN):c.50858-3C>T
|
rs587782987
|
0.00011
|
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser)
|
rs773035917
|
0.00011
|
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala)
|
rs727503600
|
0.00011
|
NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln)
|
rs201693851
|
0.00011
|
NM_001267550.2(TTN):c.63775G>A (p.Val21259Ile)
|
rs371286595
|
0.00011
|
NM_001267550.2(TTN):c.66051G>A (p.Val22017=)
|
rs587780981
|
0.00011
|
NM_001267550.2(TTN):c.66123A>G (p.Pro22041=)
|
rs727504190
|
0.00011
|
NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile)
|
rs751354601
|
0.00011
|
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys)
|
rs374492812
|
0.00011
|
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile)
|
rs377334665
|
0.00011
|
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met)
|
rs144398602
|
0.00011
|
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu)
|
rs142453163
|
0.00011
|
NM_001267550.2(TTN):c.80553C>T (p.Phe26851=)
|
rs189790119
|
0.00011
|
NM_001267550.2(TTN):c.85275T>C (p.Thr28425=)
|
rs376484117
|
0.00011
|
NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg)
|
rs72648234
|
0.00011
|
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys)
|
rs775591945
|
0.00011
|
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys)
|
rs368932767
|
0.00011
|
NM_001267550.2(TTN):c.93254C>T (p.Pro31085Leu)
|
rs549841864
|
0.00011
|
NM_001267550.2(TTN):c.94980A>G (p.Glu31660=)
|
rs370769662
|
0.00011
|
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=)
|
rs373853269
|
0.00011
|
NM_001267550.2(TTN):c.99982G>A (p.Val33328Met)
|
rs372302484
|
0.00011
|
NM_001287.6(CLCN7):c.1137C>T (p.Ile379=)
|
rs749315456
|
0.00011
|
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=)
|
rs770649913
|
0.00011
|
NM_001351132.2(PEX5):c.258C>T (p.Asp86=)
|
rs144351488
|
0.00011
|
NM_001351132.2(PEX5):c.753+10T>C
|
rs373242881
|
0.00011
|
NM_001378120.1(MBD5):c.2279A>G (p.His760Arg)
|
rs763275881
|
0.00011
|
NM_001378615.1(CC2D2A):c.2163G>A (p.Pro721=)
|
rs768337150
|
0.00011
|
NM_001378615.1(CC2D2A):c.332C>T (p.Ala111Val)
|
rs137878385
|
0.00011
|
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=)
|
rs556542553
|
0.00011
|
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met)
|
rs201617511
|
0.00011
|
NM_001429.4(EP300):c.2787A>G (p.Ala929=)
|
rs143690368
|
0.00011
|
NM_001429.4(EP300):c.6315C>T (p.Gly2105=)
|
rs528866215
|
0.00011
|
NM_001453.3(FOXC1):c.474C>T (p.Ser158=)
|
rs369346224
|
0.00011
|
NM_001692.4(ATP6V1B1):c.1276G>A (p.Val426Met)
|
rs531239712
|
0.00011
|
NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln)
|
rs758614807
|
0.00011
|
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu)
|
rs145861489
|
0.00011
|
NM_001848.3(COL6A1):c.2418C>T (p.Thr806=)
|
rs760768642
|
0.00011
|
NM_001848.3(COL6A1):c.624G>A (p.Thr208=)
|
rs573282005
|
0.00011
|
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu)
|
rs142021066
|
0.00011
|
NM_001849.4(COL6A2):c.2580G>A (p.Ala860=)
|
rs146420786
|
0.00011
|
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His)
|
rs374384263
|
0.00011
|
NM_001849.4(COL6A2):c.2922G>A (p.Leu974=)
|
rs556385546
|
0.00011
|
NM_001966.4(EHHADH):c.1563G>A (p.Val521=)
|
rs138858065
|
0.00011
|
NM_001966.4(EHHADH):c.621C>G (p.Pro207=)
|
rs139788883
|
0.00011
|
NM_002506.3(NGF):c.191C>T (p.Ala64Val)
|
rs201087374
|
0.00011
|
NM_002693.3(POLG):c.1066C>T (p.Leu356=)
|
rs371431444
|
0.00011
|
NM_002693.3(POLG):c.1389G>A (p.Leu463=)
|
rs150828914
|
0.00011
|
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val)
|
rs199593058
|
0.00011
|
NM_003482.4(KMT2D):c.2547G>A (p.Ser849=)
|
rs398123738
|
0.00011
|
NM_003640.5(ELP1):c.1704A>G (p.Ser568=)
|
rs138192941
|
0.00011
|
NM_003742.4(ABCB11):c.235G>A (p.Val79Met)
|
rs371965391
|
0.00011
|
NM_003742.4(ABCB11):c.2757C>A (p.Thr919=)
|
rs374465656
|
0.00011
|
NM_003742.4(ABCB11):c.3411+9C>T
|
rs201287126
|
0.00011
|
NM_003835.4(RGS9):c.69C>T (p.Leu23=)
|
rs373346845
|
0.00011
|
NM_004006.3(DMD):c.295A>G (p.Ile99Val)
|
rs149428656
|
0.00011
|
NM_004006.3(DMD):c.7085C>A (p.Pro2362Gln)
|
rs141151675
|
0.00011
|
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=)
|
rs138426138
|
0.00011
|
NM_004369.4(COL6A3):c.5394C>T (p.Arg1798=)
|
rs202086524
|
0.00011
|
NM_004369.4(COL6A3):c.843G>T (p.Val281=)
|
rs376201065
|
0.00011
|
NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=)
|
rs183247300
|
0.00011
|
NM_004380.3(CREBBP):c.4280+8T>C
|
rs376814421
|
0.00011
|
NM_004393.6(DAG1):c.1690C>A (p.Leu564Ile)
|
rs199894361
|
0.00011
|
NM_004565.3(PEX14):c.1101C>T (p.Pro367=)
|
rs146053705
|
0.00011
|
NM_004643.4(PABPN1):c.787C>A (p.Arg263=)
|
rs886044639
|
0.00011
|
NM_004817.4(TJP2):c.1506T>C (p.Asp502=)
|
rs139354927
|
0.00011
|
NM_004817.4(TJP2):c.2270C>T (p.Thr757Ile)
|
rs189443180
|
0.00011
|
NM_004817.4(TJP2):c.2751C>T (p.Arg917=)
|
rs184519036
|
0.00011
|
NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp)
|
rs761806977
|
0.00011
|
NM_005379.4(MYO1A):c.1961G>A (p.Arg654Gln)
|
rs147147276
|
0.00011
|
NM_005379.4(MYO1A):c.2684T>C (p.Met895Thr)
|
rs148582008
|
0.00011
|
NM_005529.7(HSPG2):c.2766C>G (p.Leu922=)
|
rs375290305
|
0.00011
|
NM_006015.6(ARID1A):c.1175C>A (p.Pro392His)
|
rs199906671
|
0.00011
|
NM_006445.4(PRPF8):c.2235C>G (p.Ala745=)
|
rs727504109
|
0.00011
|
NM_006790.3(MYOT):c.594G>A (p.Val198=)
|
rs372287923
|
0.00011
|
NM_007078.3(LDB3):c.342C>T (p.Asn114=)
|
rs151166414
|
0.00011
|
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe)
|
rs80357250
|
0.00011
|
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val)
|
rs80357280
|
0.00011
|
NM_007317.3(KIF22):c.549+8C>A
|
rs374331057
|
0.00011
|
NM_012210.4(TRIM32):c.330A>G (p.Gln110=)
|
rs770015462
|
0.00011
|
NM_014141.6(CNTNAP2):c.1777+7G>A
|
rs770951811
|
0.00011
|
NM_014714.4(IFT140):c.3874-10A>C
|
rs761503137
|
0.00011
|
NM_014780.5(CUL7):c.3834C>T (p.Gly1278=)
|
rs141756281
|
0.00011
|
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)
|
rs547495754
|
0.00011
|
NM_015404.4(WHRN):c.2112G>T (p.Leu704=)
|
rs535492772
|
0.00011
|
NM_015629.4(PRPF31):c.138T>C (p.Asp46=)
|
rs76251057
|
0.00011
|
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)
|
rs146933218
|
0.00011
|
NM_018136.5(ASPM):c.1185A>G (p.Gln395=)
|
rs183395856
|
0.00011
|
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg)
|
rs563858170
|
0.00011
|
NM_020223.4(FAM20C):c.174C>A (p.Pro58=)
|
rs567930512
|
0.00011
|
NM_020754.4(ARHGAP31):c.2216C>T (p.Pro739Leu)
|
rs200598971
|
0.00011
|
NM_024301.5(FKRP):c.54T>A (p.Leu18=)
|
rs565563742
|
0.00011
|
NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=)
|
rs369891453
|
0.00011
|
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter)
|
rs572671721
|
0.00011
|
NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn)
|
rs540121859
|
0.00011
|
NM_025074.7(FRAS1):c.2862G>A (p.Thr954=)
|
rs144065807
|
0.00011
|
NM_025193.4(HSD3B7):c.7G>A (p.Asp3Asn)
|
rs200555135
|
0.00011
|
NM_031433.4(MFRP):c.159T>C (p.Gly53=)
|
rs372897338
|
0.00011
|
NM_032043.3(BRIP1):c.249A>G (p.Gln83=)
|
rs45528833
|
0.00011
|
NM_032119.4(ADGRV1):c.12818A>G (p.His4273Arg)
|
rs201480340
|
0.00011
|
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His)
|
rs375122809
|
0.00011
|
NM_032119.4(ADGRV1):c.15334C>T (p.Arg5112Cys)
|
rs372400654
|
0.00011
|
NM_032119.4(ADGRV1):c.155G>A (p.Arg52His)
|
rs199798095
|
0.00011
|
NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=)
|
rs372350188
|
0.00011
|
NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=)
|
rs200241260
|
0.00011
|
NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg)
|
rs760510612
|
0.00011
|
NM_032119.4(ADGRV1):c.9631T>C (p.Ser3211Pro)
|
rs766184763
|
0.00011
|
NM_033100.4(CDHR1):c.833C>T (p.Pro278Leu)
|
rs543254581
|
0.00011
|
NM_080680.3(COL11A2):c.4149A>G (p.Thr1383=)
|
rs746019545
|
0.00011
|
NM_133379.5(TTN):c.13412G>C (p.Gly4471Ala)
|
rs145919543
|
0.00011
|
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=)
|
rs199635188
|
0.00011
|
NM_145239.3(PRRT2):c.879+6C>A
|
rs201887920
|
0.00011
|
NM_145691.4(ATPAF2):c.241G>A (p.Val81Ile)
|
rs371136012
|
0.00011
|
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln)
|
rs150272676
|
0.00011
|
NM_170699.3(GPBAR1):c.333C>T (p.Tyr111=)
|
rs201129128
|
0.00011
|
NM_170707.4(LMNA):c.1314G>A (p.Gly438=)
|
rs774817302
|
0.00011
|
NM_172107.4(KCNQ2):c.1301+7C>T
|
rs374877247
|
0.00011
|
NM_172364.5(CACNA2D4):c.1807-4del
|
rs756122685
|
0.00011
|
NM_173495.3(PTCHD1):c.1110C>G (p.Asp370Glu)
|
rs369968343
|
0.00011
|
NM_175875.5(SIX5):c.714C>G (p.Thr238=)
|
rs758444909
|
0.00011
|
NM_182961.4(SYNE1):c.17175C>T (p.Thr5725=)
|
rs200002217
|
0.00011
|
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu)
|
rs376891338
|
0.00011
|
NM_201384.3(PLEC):c.10743C>T (p.Gly3581=)
|
rs375573910
|
0.00011
|
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr)
|
rs369497741
|
0.00011
|
NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala)
|
rs782756146
|
0.00011
|
NM_201384.3(PLEC):c.2064G>A (p.Pro688=)
|
rs374590279
|
0.00011
|
NM_201384.3(PLEC):c.5948G>A (p.Arg1983His)
|
rs527947459
|
0.00011
|
NM_201384.3(PLEC):c.6240C>T (p.Arg2080=)
|
rs576688705
|
0.00011
|
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val)
|
rs781878105
|
0.00011
|
NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr)
|
rs200618217
|
0.00011
|
NM_201384.3(PLEC):c.7082C>T (p.Thr2361Met)
|
rs369522291
|
0.00011
|
NM_201384.3(PLEC):c.7926G>A (p.Pro2642=)
|
rs201098035
|
0.00011
|
NM_205850.3(SLC24A5):c.534G>A (p.Ala178=)
|
rs138902406
|
0.00011
|
NM_000057.4(BLM):c.1086C>T (p.Asp362=)
|
rs375632163
|
0.00010
|
NM_000137.4(FAH):c.648C>A (p.Ile216=)
|
rs147016995
|
0.00010
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000163.5(GHR):c.195A>G (p.Ser65=)
|
rs140501920
|
0.00010
|
NM_000163.5(GHR):c.585A>G (p.Gln195=)
|
rs6413483
|
0.00010
|
NM_000208.4(INSR):c.1665T>C (p.Ser555=)
|
rs149795690
|
0.00010
|
NM_000257.4(MYH7):c.1191G>A (p.Lys397=)
|
rs139506719
|
0.00010
|
NM_000303.3(PMM2):c.441C>T (p.Leu147=)
|
rs146990448
|
0.00010
|
NM_000337.6(SGCD):c.394G>A (p.Val132Ile)
|
rs367819390
|
0.00010
|
NM_000337.6(SGCD):c.402T>C (p.Ala134=)
|
rs190935424
|
0.00010
|
NM_000337.6(SGCD):c.793G>A (p.Val265Ile)
|
rs772185467
|
0.00010
|
NM_000384.3(APOB):c.8661T>C (p.Thr2887=)
|
rs144023029
|
0.00010
|
NM_000452.3(SLC10A2):c.654C>T (p.Ser218=)
|
rs140050923
|
0.00010
|
NM_000514.4(GDNF):c.138G>A (p.Ala46=)
|
rs375385439
|
0.00010
|
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn)
|
rs141298868
|
0.00010
|
NM_000548.5(TSC2):c.619G>A (p.Val207Ile)
|
rs139929314
|
0.00010
|
NM_000553.6(WRN):c.2067C>T (p.Ser689=)
|
rs191757062
|
0.00010
|
NM_000717.5(CA4):c.923C>A (p.Ala308Asp)
|
rs201580764
|
0.00010
|
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=)
|
rs563090568
|
0.00010
|
NM_000751.3(CHRND):c.1125G>A (p.Val375=)
|
rs143246852
|
0.00010
|
NM_001029883.3(PCARE):c.2191G>A (p.Val731Ile)
|
rs201790782
|
0.00010
|
NM_001034853.2(RPGR):c.36T>G (p.Gly12=)
|
rs769123303
|
0.00010
|
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)
|
rs139899756
|
0.00010
|
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)
|
rs377304621
|
0.00010
|
NM_001077365.2(POMT1):c.330C>G (p.Leu110=)
|
rs138064523
|
0.00010
|
NM_001110556.2(FLNA):c.6804T>C (p.Ala2268=)
|
rs376461465
|
0.00010
|
NM_001123385.2(BCOR):c.837C>T (p.Leu279=)
|
rs753531268
|
0.00010
|
NM_001127644.2(GABRA1):c.*2T>A
|
rs762836110
|
0.00010
|
NM_001127671.2(LIFR):c.2280G>A (p.Leu760=)
|
rs370455274
|
0.00010
|
NM_001128178.3(NPHP1):c.*1C>T
|
rs376898832
|
0.00010
|
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)
|
rs199955501
|
0.00010
|
NM_001161352.2(KCNMA1):c.414G>A (p.Ala138=)
|
rs61736948
|
0.00010
|
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val)
|
rs372217127
|
0.00010
|
NM_001165963.4(SCN1A):c.597A>G (p.Thr199=)
|
rs398123600
|
0.00010
|
NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=)
|
rs781723084
|
0.00010
|
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=)
|
rs372521529
|
0.00010
|
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val)
|
rs377337528
|
0.00010
|
NM_001267550.2(TTN):c.13090G>A (p.Val4364Met)
|
rs201506104
|
0.00010
|
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr)
|
rs142414432
|
0.00010
|
NM_001267550.2(TTN):c.13479T>G (p.Pro4493=)
|
rs368698752
|
0.00010
|
NM_001267550.2(TTN):c.15086G>A (p.Arg5029Gln)
|
rs200792058
|
0.00010
|
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe)
|
rs370109572
|
0.00010
|
NM_001267550.2(TTN):c.18557C>T (p.Thr6186Met)
|
rs200359082
|
0.00010
|
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)
|
rs369544339
|
0.00010
|
NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser)
|
rs571231816
|
0.00010
|
NM_001267550.2(TTN):c.22545C>G (p.Pro7515=)
|
rs373496180
|
0.00010
|
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg)
|
rs371512914
|
0.00010
|
NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln)
|
rs368885310
|
0.00010
|
NM_001267550.2(TTN):c.33561G>T (p.Val11187=)
|
rs763629416
|
0.00010
|
NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp)
|
rs796478043
|
0.00010
|
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser)
|
rs144609506
|
0.00010
|
NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln)
|
rs369709751
|
0.00010
|
NM_001267550.2(TTN):c.49278T>C (p.Ala16426=)
|
rs372633280
|
0.00010
|
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)
|
rs200778464
|
0.00010
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00010
|
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser)
|
rs200732032
|
0.00010
|
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp)
|
rs200155485
|
0.00010
|
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met)
|
rs779064962
|
0.00010
|
NM_001267550.2(TTN):c.7469G>A (p.Arg2490His)
|
rs148920986
|
0.00010
|
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile)
|
rs371362606
|
0.00010
|
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys)
|
rs397517719
|
0.00010
|
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr)
|
rs72648215
|
0.00010
|
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)
|
rs200639218
|
0.00010
|
NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp)
|
rs373900294
|
0.00010
|
NM_001267550.2(TTN):c.93981C>G (p.Val31327=)
|
rs370894846
|
0.00010
|
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala)
|
rs55803460
|
0.00010
|
NM_001330078.2(NRXN1):c.3489C>T (p.Ala1163=)
|
rs147580960
|
0.00010
|
NM_001369.3(DNAH5):c.11322C>T (p.Ser3774=)
|
rs267600357
|
0.00010
|
NM_001369268.1(ACAN):c.894C>T (p.Ser298=)
|
rs576947078
|
0.00010
|
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=)
|
rs35546990
|
0.00010
|
NM_001378414.1(HDAC4):c.2346C>T (p.Cys782=)
|
rs144099208
|
0.00010
|
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=)
|
rs371511963
|
0.00010
|
NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser)
|
rs145037203
|
0.00010
|
NM_001414.4(EIF2B1):c.735C>T (p.Asp245=)
|
rs776489281
|
0.00010
|
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=)
|
rs144136807
|
0.00010
|
NM_001849.4(COL6A2):c.189G>A (p.Thr63=)
|
rs143583433
|
0.00010
|
NM_001851.6(COL9A1):c.462A>G (p.Val154=)
|
rs150571620
|
0.00010
|
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=)
|
rs140608161
|
0.00010
|
NM_001927.4(DES):c.1257C>T (p.Pro419=)
|
rs143154982
|
0.00010
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00010
|
NM_001966.4(EHHADH):c.1063G>A (p.Gly355Ser)
|
rs150744159
|
0.00010
|
NM_002335.4(LRP5):c.4643G>T (p.Cys1548Phe)
|
rs147618989
|
0.00010
|
NM_002473.6(MYH9):c.2679C>A (p.Thr893=)
|
rs145476120
|
0.00010
|
NM_002693.3(POLG):c.2724C>T (p.Ala908=)
|
rs377390914
|
0.00010
|
NM_002768.5(CHMP1A):c.147C>T (p.Ala49=)
|
rs200606123
|
0.00010
|
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln)
|
rs200488448
|
0.00010
|
NM_004006.3(DMD):c.2183T>C (p.Ile728Thr)
|
rs192004962
|
0.00010
|
NM_004006.3(DMD):c.3432+10A>G
|
rs746260475
|
0.00010
|
NM_004006.3(DMD):c.606C>T (p.Ile202=)
|
rs138335295
|
0.00010
|
NM_004006.3(DMD):c.7323T>C (p.Thr2441=)
|
rs201919981
|
0.00010
|
NM_004006.3(DMD):c.7658G>A (p.Arg2553Gln)
|
rs764127932
|
0.00010
|
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=)
|
rs116239777
|
0.00010
|
NM_004369.4(COL6A3):c.543T>C (p.Asp181=)
|
rs898779231
|
0.00010
|
NM_004493.3(HSD17B10):c.147C>G (p.Ala49=)
|
rs367982176
|
0.00010
|
NM_004817.4(TJP2):c.2961G>A (p.Pro987=)
|
rs371617466
|
0.00010
|
NM_004817.4(TJP2):c.334G>A (p.Ala112Thr)
|
rs144396411
|
0.00010
|
NM_005045.4(RELN):c.5274G>T (p.Ala1758=)
|
rs139102992
|
0.00010
|
NM_005476.7(GNE):c.1412-5C>T
|
rs369078814
|
0.00010
|
NM_005477.3(HCN4):c.3117G>A (p.Pro1039=)
|
rs749785521
|
0.00010
|
NM_005881.4(BCKDK):c.1104C>T (p.Phe368=)
|
rs201614853
|
0.00010
|
NM_005902.4(SMAD3):c.1092C>T (p.Tyr364=)
|
rs753875974
|
0.00010
|
NM_006031.6(PCNT):c.6635G>A (p.Arg2212Gln)
|
rs201503338
|
0.00010
|
NM_012301.4(MAGI2):c.1737C>T (p.Asp579=)
|
rs142555732
|
0.00010
|
NM_014141.6(CNTNAP2):c.755-5C>T
|
rs369675346
|
0.00010
|
NM_014208.3(DSPP):c.2874T>C (p.Asn958=)
|
rs374607352
|
0.00010
|
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)
|
rs372359781
|
0.00010
|
NM_014918.5(CHSY1):c.489G>A (p.Lys163=)
|
rs146047900
|
0.00010
|
NM_014989.7(RIMS1):c.169G>C (p.Val57Leu)
|
rs200005095
|
0.00010
|
NM_017534.6(MYH2):c.1959G>A (p.Val653=)
|
rs376346567
|
0.00010
|
NM_017780.4(CHD7):c.6682G>A (p.Gly2228Arg)
|
rs200907656
|
0.00010
|
NM_018668.5(VPS33B):c.1105+10G>A
|
rs370555380
|
0.00010
|
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=)
|
rs757811625
|
0.00010
|
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=)
|
rs186866326
|
0.00010
|
NM_022436.3(ABCG5):c.300C>G (p.Ser100=)
|
rs1212418813
|
0.00010
|
NM_022437.3(ABCG8):c.546C>T (p.Ala182=)
|
rs774395087
|
0.00010
|
NM_022437.3(ABCG8):c.62C>T (p.Ser21Leu)
|
rs144411000
|
0.00010
|
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr)
|
rs143585233
|
0.00010
|
NM_022464.5(SIL1):c.849C>T (p.Leu283=)
|
rs372816951
|
0.00010
|
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)
|
rs199815871
|
0.00010
|
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=)
|
rs782101275
|
0.00010
|
NM_025074.7(FRAS1):c.237T>C (p.Ala79=)
|
rs370345916
|
0.00010
|
NM_025074.7(FRAS1):c.4729A>T (p.Thr1577Ser)
|
rs183594682
|
0.00010
|
NM_025219.3(DNAJC5):c.75C>T (p.Asn25=)
|
rs189308547
|
0.00010
|
NM_031433.4(MFRP):c.1256-4G>A
|
rs142533439
|
0.00010
|
NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=)
|
rs373354231
|
0.00010
|
NM_032119.4(ADGRV1):c.12373A>G (p.Ile4125Val)
|
rs766991551
|
0.00010
|
NM_032119.4(ADGRV1):c.1411G>C (p.Val471Leu)
|
rs190427962
|
0.00010
|
NM_032119.4(ADGRV1):c.17669T>A (p.Met5890Lys)
|
rs142905845
|
0.00010
|
NM_080916.3(DGUOK):c.-1G>A
|
rs754623273
|
0.00010
|
NM_080916.3(DGUOK):c.60G>A (p.Lys20=)
|
rs961313523
|
0.00010
|
NM_133379.5(TTN):c.11169G>A (p.Thr3723=)
|
rs145004106
|
0.00010
|
NM_133497.4(KCNV2):c.168G>A (p.Glu56=)
|
rs201975160
|
0.00010
|
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His)
|
rs141177165
|
0.00010
|
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=)
|
rs148497044
|
0.00010
|
NM_138694.4(PKHD1):c.6741C>G (p.Cys2247Trp)
|
rs750190287
|
0.00010
|
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln)
|
rs533701597
|
0.00010
|
NM_178138.6(LHX3):c.198C>G (p.Ala66=)
|
rs190916587
|
0.00010
|
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=)
|
rs201715967
|
0.00010
|
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=)
|
rs371017408
|
0.00010
|
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met)
|
rs142676206
|
0.00010
|
NM_198506.5(LRIT3):c.710G>A (p.Arg237His)
|
rs150750727
|
0.00010
|
NM_201384.3(PLEC):c.10791C>T (p.Pro3597=)
|
rs537994918
|
0.00010
|
NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr)
|
rs782767733
|
0.00010
|
NM_201384.3(PLEC):c.13607C>T (p.Ser4536Leu)
|
rs781985768
|
0.00010
|
NM_201384.3(PLEC):c.13636G>A (p.Val4546Met)
|
rs573424409
|
0.00010
|
NM_201384.3(PLEC):c.2458-7G>A
|
rs372799330
|
0.00010
|
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val)
|
rs201922111
|
0.00010
|
NM_201384.3(PLEC):c.9406G>A (p.Ala3136Thr)
|
rs200680102
|
0.00010
|
NM_206933.4(USH2A):c.7168G>A (p.Gly2390Arg)
|
rs376983577
|
0.00010
|
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)
|
rs150060240
|
0.00010
|
NM_207361.6(FREM2):c.6333C>T (p.Gly2111=)
|
rs116763572
|
0.00010
|
NM_000035.4(ALDOB):c.1014G>A (p.Ala338=)
|
rs546735701
|
0.00009
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00009
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)
|
rs45520945
|
0.00009
|
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)
|
rs56121817
|
0.00009
|
NM_000080.4(CHRNE):c.465C>T (p.Phe155=)
|
rs139625105
|
0.00009
|
NM_000093.5(COL5A1):c.804C>T (p.Gly268=)
|
rs147729713
|
0.00009
|
NM_000137.4(FAH):c.870C>T (p.Asp290=)
|
rs377480457
|
0.00009
|
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)
|
rs143677764
|
0.00009
|
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=)
|
rs138621371
|
0.00009
|
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)
|
rs202240409
|
0.00009
|
NM_000152.5(GAA):c.1482A>G (p.Thr494=)
|
rs202064115
|
0.00009
|
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)
|
rs1800938
|
0.00009
|
NM_000214.3(JAG1):c.1335G>A (p.Gln445=)
|
rs759545669
|
0.00009
|
NM_000231.3(SGCG):c.506-7T>G
|
rs774582375
|
0.00009
|
NM_000235.4(LIPA):c.483T>C (p.Asn161=)
|
rs369755163
|
0.00009
|
NM_000260.4(MYO7A):c.3750+7G>A
|
rs397516305
|
0.00009
|
NM_000337.6(SGCD):c.123C>G (p.Leu41=)
|
rs200670993
|
0.00009
|
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu)
|
rs190540405
|
0.00009
|
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=)
|
rs771922933
|
0.00009
|
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys)
|
rs546653967
|
0.00009
|
NM_000426.4(LAMA2):c.2736G>A (p.Ala912=)
|
rs142671449
|
0.00009
|
NM_000428.3(LTBP2):c.1686+8C>G
|
rs563097395
|
0.00009
|
NM_000452.3(SLC10A2):c.363C>T (p.Gly121=)
|
rs143992162
|
0.00009
|
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=)
|
rs751225159
|
0.00009
|
NM_000458.4(HNF1B):c.1654-9T>A
|
rs200579660
|
0.00009
|
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)
|
rs146804928
|
0.00009
|
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
NM_000515.5(GH1):c.387C>T (p.Tyr129=)
|
rs370785603
|
0.00009
|
NM_000541.5(SAG):c.474A>G (p.Thr158=)
|
rs886042737
|
0.00009
|
NM_000541.5(SAG):c.843G>A (p.Thr281=)
|
rs374774483
|
0.00009
|
NM_000543.5(SMPD1):c.567A>G (p.Lys189=)
|
rs750187574
|
0.00009
|
NM_000601.6(HGF):c.270T>C (p.Asp90=)
|
rs145598174
|
0.00009
|
NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=)
|
rs377643814
|
0.00009
|
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=)
|
rs201345843
|
0.00009
|
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly)
|
rs549476254
|
0.00009
|
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=)
|
rs369079645
|
0.00009
|
NM_000883.4(IMPDH1):c.1551C>T (p.Ser517=)
|
rs148875137
|
0.00009
|
NM_001008537.3(NEXMIF):c.2672A>G (p.Asn891Ser)
|
rs186535459
|
0.00009
|
NM_001038603.3(MARVELD2):c.808A>C (p.Ile270Leu)
|
rs139234053
|
0.00009
|
NM_001061.7(TBXAS1):c.51G>A (p.Thr17=)
|
rs201600575
|
0.00009
|
NM_001077365.2(POMT1):c.1149C>T (p.His383=)
|
rs202121299
|
0.00009
|
NM_001110556.2(FLNA):c.7362G>A (p.Thr2454=)
|
rs369179210
|
0.00009
|
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=)
|
rs371972266
|
0.00009
|
NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val)
|
rs765051582
|
0.00009
|
NM_001127649.3(PEX26):c.33C>G (p.Pro11=)
|
rs199668827
|
0.00009
|
NM_001128228.3(TPRN):c.1726-7C>T
|
rs377461469
|
0.00009
|
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=)
|
rs779993051
|
0.00009
|
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=)
|
rs146687581
|
0.00009
|
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val)
|
rs201476613
|
0.00009
|
NM_001130987.2(DYSF):c.4831G>A (p.Ala1611Thr)
|
rs143163327
|
0.00009
|
NM_001130987.2(DYSF):c.690C>T (p.Pro230=)
|
rs376293526
|
0.00009
|
NM_001184880.2(PCDH19):c.2522G>A (p.Arg841His)
|
rs756818874
|
0.00009
|
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala)
|
rs727504067
|
0.00009
|
NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=)
|
rs141430143
|
0.00009
|
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met)
|
rs201649140
|
0.00009
|
NM_001256789.3(CACNA1F):c.5827G>A (p.Asp1943Asn)
|
rs374663693
|
0.00009
|
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val)
|
rs200675195
|
0.00009
|
NM_001267550.2(TTN):c.12957G>A (p.Ala4319=)
|
rs762330685
|
0.00009
|
NM_001267550.2(TTN):c.13458C>T (p.Asp4486=)
|
rs748885610
|
0.00009
|
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=)
|
rs183328495
|
0.00009
|
NM_001267550.2(TTN):c.1398+5G>A
|
rs542965530
|
0.00009
|
NM_001267550.2(TTN):c.14049C>T (p.Ser4683=)
|
rs370208081
|
0.00009
|
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys)
|
rs371552518
|
0.00009
|
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr)
|
rs143030869
|
0.00009
|
NM_001267550.2(TTN):c.16057C>A (p.Arg5353=)
|
rs267599069
|
0.00009
|
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val)
|
rs72648945
|
0.00009
|
NM_001267550.2(TTN):c.186C>T (p.Arg62=)
|
rs528853682
|
0.00009
|
NM_001267550.2(TTN):c.21475G>A (p.Val7159Ile)
|
rs371267140
|
0.00009
|
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=)
|
rs752620885
|
0.00009
|
NM_001267550.2(TTN):c.25145G>A (p.Arg8382His)
|
rs199598066
|
0.00009
|
NM_001267550.2(TTN):c.25557C>T (p.Gly8519=)
|
rs372320172
|
0.00009
|
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=)
|
rs375022009
|
0.00009
|
NM_001267550.2(TTN):c.2611G>T (p.Val871Leu)
|
rs72647861
|
0.00009
|
NM_001267550.2(TTN):c.30309T>C (p.Phe10103=)
|
rs762141482
|
0.00009
|
NM_001267550.2(TTN):c.31441A>G (p.Thr10481Ala)
|
rs370208651
|
0.00009
|
NM_001267550.2(TTN):c.31875A>C (p.Thr10625=)
|
rs182934463
|
0.00009
|
NM_001267550.2(TTN):c.33305G>A (p.Arg11102His)
|
rs368777046
|
0.00009
|
NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala)
|
rs199561793
|
0.00009
|
NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met)
|
rs766145596
|
0.00009
|
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile)
|
rs375474669
|
0.00009
|
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=)
|
rs148528251
|
0.00009
|
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=)
|
rs369800903
|
0.00009
|
NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr)
|
rs766391823
|
0.00009
|
NM_001267550.2(TTN):c.47242A>C (p.Asn15748His)
|
rs368988689
|
0.00009
|
NM_001267550.2(TTN):c.52317A>G (p.Lys17439=)
|
rs370450339
|
0.00009
|
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro)
|
rs369678018
|
0.00009
|
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His)
|
rs200100660
|
0.00009
|
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln)
|
rs727503603
|
0.00009
|
NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln)
|
rs374914334
|
0.00009
|
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)
|
rs372812312
|
0.00009
|
NM_001267550.2(TTN):c.63960T>A (p.Val21320=)
|
rs397517655
|
0.00009
|
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn)
|
rs368924655
|
0.00009
|
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu)
|
rs55992239
|
0.00009
|
NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr)
|
rs759110420
|
0.00009
|
NM_001267550.2(TTN):c.76610G>A (p.Arg25537His)
|
rs561977468
|
0.00009
|
NM_001267550.2(TTN):c.77706C>T (p.Asp25902=)
|
rs375764395
|
0.00009
|
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp)
|
rs534003014
|
0.00009
|
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His)
|
rs764254441
|
0.00009
|
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val)
|
rs142391957
|
0.00009
|
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His)
|
rs373532064
|
0.00009
|
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys)
|
rs199501185
|
0.00009
|
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)
|
rs397517746
|
0.00009
|
NM_001267550.2(TTN):c.93255G>A (p.Pro31085=)
|
rs372611171
|
0.00009
|
NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=)
|
rs771635198
|
0.00009
|
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr)
|
rs201023432
|
0.00009
|
NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile)
|
rs375533809
|
0.00009
|
NM_001271.4(CHD2):c.753A>G (p.Glu251=)
|
rs368486032
|
0.00009
|
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)
|
rs376923877
|
0.00009
|
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val)
|
rs199592861
|
0.00009
|
NM_001291867.2(NHS):c.3408G>A (p.Thr1136=)
|
rs370811549
|
0.00009
|
NM_001351132.2(PEX5):c.1245C>T (p.Asn415=)
|
rs138243167
|
0.00009
|
NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser)
|
rs760242
|
0.00009
|
NM_001360.3(DHCR7):c.1362G>A (p.Lys454=)
|
rs147850435
|
0.00009
|
NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=)
|
rs557097410
|
0.00009
|
NM_001367721.1(CASK):c.1315-10A>G
|
rs375004542
|
0.00009
|
NM_001369268.1(ACAN):c.2261T>C (p.Leu754Pro)
|
rs577419060
|
0.00009
|
NM_001378120.1(MBD5):c.4258T>G (p.Ser1420Ala)
|
rs756608508
|
0.00009
|
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile)
|
rs549757247
|
0.00009
|
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln)
|
rs778205727
|
0.00009
|
NM_001378615.1(CC2D2A):c.881-8C>T
|
rs114387988
|
0.00009
|
NM_001379081.2(FREM1):c.261C>T (p.Asn87=)
|
rs370943663
|
0.00009
|
NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=)
|
rs150784450
|
0.00009
|
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=)
|
rs539688337
|
0.00009
|
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=)
|
rs749182319
|
0.00009
|
NM_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys)
|
rs144969169
|
0.00009
|
NM_001429.4(EP300):c.1572G>A (p.Thr524=)
|
rs746398873
|
0.00009
|
NM_001429.4(EP300):c.3591-6C>T
|
rs368437789
|
0.00009
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00009
|
NM_001692.4(ATP6V1B1):c.669C>T (p.Ile223=)
|
rs372233648
|
0.00009
|
NM_001701.4(BAAT):c.797T>C (p.Ile266Thr)
|
rs539433580
|
0.00009
|
NM_001793.6(CDH3):c.2364C>T (p.Asp788=)
|
rs144637479
|
0.00009
|
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln)
|
rs146288748
|
0.00009
|
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=)
|
rs762625409
|
0.00009
|
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile)
|
rs563043611
|
0.00009
|
NM_001849.4(COL6A2):c.1458+9_1458+14del
|
rs762583937
|
0.00009
|
NM_001849.4(COL6A2):c.2745G>A (p.Ser915=)
|
rs144516266
|
0.00009
|
NM_001849.4(COL6A2):c.2784C>T (p.Ile928=)
|
rs199501232
|
0.00009
|
NM_001849.4(COL6A2):c.999+10G>T
|
rs376378709
|
0.00009
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
0.00009
|
NM_001953.5(TYMP):c.-4A>G
|
rs571316178
|
0.00009
|
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)
|
rs147633551
|
0.00009
|
NM_002693.3(POLG):c.1842C>T (p.Tyr614=)
|
rs62640033
|
0.00009
|
NM_002693.3(POLG):c.2220C>T (p.Asn740=)
|
rs141538857
|
0.00009
|
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)
|
rs143238917
|
0.00009
|
NM_002968.3(SALL1):c.2373C>A (p.Gly791=)
|
rs377295510
|
0.00009
|
NM_003392.7(WNT5A):c.819G>A (p.Ala273=)
|
rs200583587
|
0.00009
|
NM_003482.4(KMT2D):c.2222C>T (p.Pro741Leu)
|
rs587778453
|
0.00009
|
NM_003611.3(OFD1):c.936-2A>G
|
rs199902986
|
0.00009
|
NM_003673.4(TCAP):c.132C>T (p.Asp44=)
|
rs397516861
|
0.00009
|
NM_003742.4(ABCB11):c.279C>T (p.Tyr93=)
|
rs375137002
|
0.00009
|
NM_003816.3(ADAM9):c.540G>A (p.Lys180=)
|
rs186443262
|
0.00009
|
NM_004006.3(DMD):c.9479G>A (p.Arg3160His)
|
rs771392678
|
0.00009
|
NM_004006.3(DMD):c.9888C>T (p.Pro3296=)
|
rs146543659
|
0.00009
|
NM_004369.4(COL6A3):c.4663G>A (p.Asp1555Asn)
|
rs763162762
|
0.00009
|
NM_004369.4(COL6A3):c.7702C>T (p.Leu2568=)
|
rs201479636
|
0.00009
|
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val)
|
rs369459749
|
0.00009
|
NM_004393.6(DAG1):c.2349T>C (p.Leu783=)
|
rs201280782
|
0.00009
|
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)
|
rs151115778
|
0.00009
|
NM_004447.6(EPS8):c.1822A>C (p.Lys608Gln)
|
rs200844984
|
0.00009
|
NM_004656.4(BAP1):c.186C>T (p.Val62=)
|
rs199608453
|
0.00009
|
NM_004698.4(PRPF3):c.957T>C (p.Pro319=)
|
rs199721048
|
0.00009
|
NM_004813.4(PEX16):c.262G>A (p.Val88Met)
|
rs567165324
|
0.00009
|
NM_005148.4(UNC119):c.600C>T (p.Ser200=)
|
rs142549864
|
0.00009
|
NM_005379.4(MYO1A):c.2082C>G (p.Arg694=)
|
rs189900453
|
0.00009
|
NM_005379.4(MYO1A):c.92G>A (p.Arg31His)
|
rs727504447
|
0.00009
|
NM_005477.3(HCN4):c.1815G>A (p.Thr605=)
|
rs367753936
|
0.00009
|
NM_005529.7(HSPG2):c.1086G>A (p.Lys362=)
|
rs189837148
|
0.00009
|
NM_005529.7(HSPG2):c.2124C>T (p.Ser708=)
|
rs139220302
|
0.00009
|
NM_005529.7(HSPG2):c.5628A>G (p.Thr1876=)
|
rs368047383
|
0.00009
|
NM_005802.5(TOPORS):c.2344A>G (p.Thr782Ala)
|
rs746320974
|
0.00009
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
0.00009
|
NM_006005.3(WFS1):c.173C>T (p.Ala58Val)
|
rs369671890
|
0.00009
|
NM_006019.4(TCIRG1):c.2119-10C>T
|
rs377606178
|
0.00009
|
NM_006662.3(SRCAP):c.5019G>A (p.Pro1673=)
|
rs202139170
|
0.00009
|
NM_006662.3(SRCAP):c.7173G>A (p.Pro2391=)
|
rs150413453
|
0.00009
|
NM_006922.4(SCN3A):c.4899T>A (p.Arg1633=)
|
rs748935500
|
0.00009
|
NM_007118.4(TRIO):c.8824C>G (p.Gln2942Glu)
|
rs377248579
|
0.00009
|
NM_007255.3(B4GALT7):c.489C>T (p.Asp163=)
|
rs372857848
|
0.00009
|
NM_014140.4(SMARCAL1):c.2322G>A (p.Ser774=)
|
rs139445683
|
0.00009
|
NM_014319.5(LEMD3):c.282C>G (p.Val94=)
|
rs867412512
|
0.00009
|
NM_014989.7(RIMS1):c.28C>T (p.Pro10Ser)
|
rs200935038
|
0.00009
|
NM_015102.5(NPHP4):c.1764-5C>T
|
rs370899989
|
0.00009
|
NM_015166.4(MLC1):c.93C>T (p.Asp31=)
|
rs199625892
|
0.00009
|
NM_015311.3(OBSL1):c.993C>A (p.Ala331=)
|
rs771686909
|
0.00009
|
NM_015629.4(PRPF31):c.1374+9C>T
|
rs727504108
|
0.00009
|
NM_016239.4(MYO15A):c.7533C>T (p.Pro2511=)
|
rs369717113
|
0.00009
|
NM_017617.5(NOTCH1):c.1725C>T (p.Cys575=)
|
rs369070550
|
0.00009
|
NM_017777.4(MKS1):c.516-10T>C
|
rs375046501
|
0.00009
|
NM_018006.5(TRMU):c.351T>C (p.Asn117=)
|
rs117710834
|
0.00009
|
NM_018136.5(ASPM):c.2994G>A (p.Pro998=)
|
rs554545885
|
0.00009
|
NM_019066.5(MAGEL2):c.474A>G (p.Pro158=)
|
rs750481560
|
0.00009
|
NM_020779.4(WDR35):c.2109T>G (p.Thr703=)
|
rs201822027
|
0.00009
|
NM_020822.3(KCNT1):c.2008+10G>C
|
rs752453368
|
0.00009
|
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=)
|
rs376314779
|
0.00009
|
NM_020975.6(RET):c.2611G>A (p.Val871Ile)
|
rs145170911
|
0.00009
|
NM_022042.4(SLC26A1):c.747G>A (p.Trp249Ter)
|
rs536555705
|
0.00009
|
NM_022124.6(CDH23):c.1450-4G>A
|
rs374549358
|
0.00009
|
NM_022124.6(CDH23):c.2394C>T (p.Thr798=)
|
rs373269394
|
0.00009
|
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn)
|
rs191021194
|
0.00009
|
NM_022437.3(ABCG8):c.694+5G>C
|
rs557890655
|
0.00009
|
NM_022437.3(ABCG8):c.870C>T (p.Thr290=)
|
rs117221284
|
0.00009
|
NM_023110.3(FGFR1):c.1978-8del
|
rs112311314
|
0.00009
|
NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=)
|
rs145566650
|
0.00009
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys)
|
rs373269573
|
0.00009
|
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile)
|
rs780569649
|
0.00009
|
NM_030662.4(MAP2K2):c.919+4C>T
|
rs763424788
|
0.00009
|
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=)
|
rs375062187
|
0.00009
|
NM_032119.4(ADGRV1):c.8295G>T (p.Leu2765Phe)
|
rs141681122
|
0.00009
|
NM_130837.3(OPA1):c.790-4T>A
|
rs374509936
|
0.00009
|
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=)
|
rs371154816
|
0.00009
|
NM_133379.5(TTN):c.13746A>G (p.Gln4582=)
|
rs201945197
|
0.00009
|
NM_133379.5(TTN):c.13799A>C (p.Glu4600Ala)
|
rs200760091
|
0.00009
|
NM_133433.4(NIPBL):c.5511A>G (p.Arg1837=)
|
rs146702130
|
0.00009
|
NM_133642.5(LARGE1):c.909T>G (p.Leu303=)
|
rs563144239
|
0.00009
|
NM_138694.4(PKHD1):c.282-3C>T
|
rs535210707
|
0.00009
|
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=)
|
rs146531432
|
0.00009
|
NM_138694.4(PKHD1):c.8364C>T (p.Thr2788=)
|
rs777017196
|
0.00009
|
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)
|
rs760710708
|
0.00009
|
NM_139343.3(BIN1):c.942C>T (p.His314=)
|
rs370911793
|
0.00009
|
NM_144508.5(KNL1):c.606C>T (p.Ser202=)
|
rs776234628
|
0.00009
|
NM_147127.5(EVC2):c.765C>T (p.Asn255=)
|
rs139129327
|
0.00009
|
NM_152564.5(VPS13B):c.7780-19C>T
|
rs199981958
|
0.00009
|
NM_153676.4(USH1C):c.2124T>C (p.Ser708=)
|
rs369021714
|
0.00009
|
NM_182914.3(SYNE2):c.19323C>T (p.Ser6441=)
|
rs186839881
|
0.00009
|
NM_182961.4(SYNE1):c.21705G>A (p.Lys7235=)
|
rs148606479
|
0.00009
|
NM_182961.4(SYNE1):c.2427G>A (p.Glu809=)
|
rs749509412
|
0.00009
|
NM_182961.4(SYNE1):c.2893-5G>A
|
rs370196519
|
0.00009
|
NM_194248.3(OTOF):c.4820G>A (p.Arg1607Gln)
|
rs141800430
|
0.00009
|
NM_198525.3(KIF7):c.72A>C (p.Pro24=)
|
rs773325406
|
0.00009
|
NM_201384.3(PLEC):c.10157C>T (p.Ala3386Val)
|
rs532234200
|
0.00009
|
NM_201384.3(PLEC):c.10728C>T (p.Gly3576=)
|
rs372840016
|
0.00009
|
NM_201384.3(PLEC):c.113-6C>T
|
rs782235036
|
0.00009
|
NM_201384.3(PLEC):c.12783C>T (p.Ala4261=)
|
rs377524932
|
0.00009
|
NM_201384.3(PLEC):c.6657C>T (p.Ala2219=)
|
rs762600030
|
0.00009
|
NM_201384.3(PLEC):c.792C>T (p.Arg264=)
|
rs782391508
|
0.00009
|
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile)
|
rs727504307
|
0.00009
|
NM_206933.4(USH2A):c.15306C>T (p.Ala5102=)
|
rs149506333
|
0.00009
|
NM_213599.3(ANO5):c.1332+8A>G
|
rs368857740
|
0.00009
|
NM_000092.5(COL4A4):c.1460-6G>A
|
rs771213140
|
0.00008
|
NM_000124.4(ERCC6):c.4143C>T (p.Ser1381=)
|
rs375921453
|
0.00008
|
NM_000142.5(FGFR3):c.335G>A (p.Arg112Gln)
|
rs758163128
|
0.00008
|
NM_000152.5(GAA):c.711G>A (p.Ala237=)
|
rs368328598
|
0.00008
|
NM_000168.6(GLI3):c.1182A>G (p.Pro394=)
|
rs748606221
|
0.00008
|
NM_000208.4(INSR):c.2256C>G (p.Ala752=)
|
rs376497490
|
0.00008
|
NM_000214.3(JAG1):c.1628G>A (p.Arg543His)
|
rs544877858
|
0.00008
|
NM_000260.4(MYO7A):c.2088C>T (p.Tyr696=)
|
rs781964494
|
0.00008
|
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=)
|
rs150602021
|
0.00008
|
NM_000310.4(PPT1):c.*6G>A
|
rs113082671
|
0.00008
|
NM_000346.4(SOX9):c.685+7C>T
|
rs370951695
|
0.00008
|
NM_000352.6(ABCC8):c.279C>A (p.Ile93=)
|
rs550990673
|
0.00008
|
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr)
|
rs765695557
|
0.00008
|
NM_000377.3(WAS):c.264C>T (p.Tyr88=)
|
rs150520117
|
0.00008
|
NM_000377.3(WAS):c.285G>A (p.Leu95=)
|
rs781799471
|
0.00008
|
NM_000383.4(AIRE):c.564C>G (p.Val188=)
|
rs201650973
|
0.00008
|
NM_000388.4(CASR):c.114T>C (p.Phe38=)
|
rs61733590
|
0.00008
|
NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=)
|
rs368458295
|
0.00008
|
NM_000489.6(ATRX):c.831C>T (p.Val277=)
|
rs142561199
|
0.00008
|
NM_000501.4(ELN):c.1358-198G>A
|
rs192461213
|
0.00008
|
NM_000535.7(PMS2):c.2127C>T (p.Phe709=)
|
rs199943748
|
0.00008
|
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)
|
rs536304635
|
0.00008
|
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=)
|
rs371831239
|
0.00008
|
NM_000744.7(CHRNA4):c.729G>A (p.Pro243=)
|
rs121912253
|
0.00008
|
NM_000843.4(GRM6):c.588C>T (p.Pro196=)
|
rs756171835
|
0.00008
|
NM_001005242.3(PKP2):c.918C>T (p.Pro306=)
|
rs368656084
|
0.00008
|
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)
|
rs185715460
|
0.00008
|
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=)
|
rs367546924
|
0.00008
|
NM_001048166.1(STIL):c.2259C>G (p.Ser753=)
|
rs774035449
|
0.00008
|
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=)
|
rs374616425
|
0.00008
|
NM_001127671.2(LIFR):c.2937G>A (p.Ser979=)
|
rs201711670
|
0.00008
|
NM_001128840.3(CACNA1D):c.3115-3C>T
|
rs779910083
|
0.00008
|
NM_001130823.3(DNMT1):c.2937C>T (p.Pro979=)
|
rs150359172
|
0.00008
|
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met)
|
rs775539496
|
0.00008
|
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=)
|
rs577921112
|
0.00008
|
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)
|
rs187423999
|
0.00008
|
NM_001134407.3(GRIN2A):c.4330G>A (p.Val1444Ile)
|
rs150574045
|
0.00008
|
NM_001134407.3(GRIN2A):c.4353A>T (p.Arg1451Ser)
|
rs143693526
|
0.00008
|
NM_001146079.2(CLDN14):c.321C>T (p.Cys107=)
|
rs764548516
|
0.00008
|
NM_001193315.2(VIPAS39):c.1254T>C (p.Asn418=)
|
rs188105111
|
0.00008
|
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=)
|
rs370869383
|
0.00008
|
NM_001206979.2(NR1H4):c.1245T>C (p.Leu415=)
|
rs368975126
|
0.00008
|
NM_001242957.3(MAK):c.492-4A>G
|
rs540144059
|
0.00008
|
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile)
|
rs200782068
|
0.00008
|
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met)
|
rs373655492
|
0.00008
|
NM_001267550.2(TTN):c.107384T>C (p.Val35795Ala)
|
rs549598246
|
0.00008
|
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr)
|
rs397517829
|
0.00008
|
NM_001267550.2(TTN):c.13340C>T (p.Ser4447Leu)
|
rs777547090
|
0.00008
|
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr)
|
rs191968963
|
0.00008
|
NM_001267550.2(TTN):c.17184A>G (p.Glu5728=)
|
rs200984007
|
0.00008
|
NM_001267550.2(TTN):c.1815T>C (p.Thr605=)
|
rs757604614
|
0.00008
|
NM_001267550.2(TTN):c.20465A>G (p.Asn6822Ser)
|
rs371518764
|
0.00008
|
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=)
|
rs372264428
|
0.00008
|
NM_001267550.2(TTN):c.23616C>T (p.Asn7872=)
|
rs181206334
|
0.00008
|
NM_001267550.2(TTN):c.2760C>T (p.His920=)
|
rs138788406
|
0.00008
|
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr)
|
rs371163094
|
0.00008
|
NM_001267550.2(TTN):c.30619C>G (p.Pro10207Ala)
|
rs781304514
|
0.00008
|
NM_001267550.2(TTN):c.3813T>C (p.Leu1271=)
|
rs773274762
|
0.00008
|
NM_001267550.2(TTN):c.39709+9G>C
|
rs765647346
|
0.00008
|
NM_001267550.2(TTN):c.41019G>A (p.Pro13673=)
|
rs762470432
|
0.00008
|
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr)
|
rs377037421
|
0.00008
|
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=)
|
rs202141158
|
0.00008
|
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met)
|
rs368425364
|
0.00008
|
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg)
|
rs772677752
|
0.00008
|
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His)
|
rs72646868
|
0.00008
|
NM_001267550.2(TTN):c.8184C>T (p.Val2728=)
|
rs753356474
|
0.00008
|
NM_001267550.2(TTN):c.83733C>T (p.Ser27911=)
|
rs375442124
|
0.00008
|
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile)
|
rs200476500
|
0.00008
|
NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp)
|
rs201463708
|
0.00008
|
NM_001267550.2(TTN):c.99582G>A (p.Pro33194=)
|
rs777730098
|
0.00008
|
NM_001287.6(CLCN7):c.1155C>T (p.Gly385=)
|
rs771365308
|
0.00008
|
NM_001292063.2(OTOG):c.450A>G (p.Thr150=)
|
rs779238030
|
0.00008
|
NM_001330078.2(NRXN1):c.498G>A (p.Ala166=)
|
rs201212909
|
0.00008
|
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=)
|
rs777517985
|
0.00008
|
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=)
|
rs148468879
|
0.00008
|
NM_001360016.2(G6PD):c.1051+16G>A
|
rs782637386
|
0.00008
|
NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile)
|
rs141840001
|
0.00008
|
NM_001374385.1(ATP8B1):c.2100C>T (p.Leu700=)
|
rs747771646
|
0.00008
|
NM_001374385.1(ATP8B1):c.903G>A (p.Arg301=)
|
rs762363452
|
0.00008
|
NM_001376256.1(CRYM):c.474G>A (p.Gln158=)
|
rs371633413
|
0.00008
|
NM_001458.5(FLNC):c.2040C>T (p.Thr680=)
|
rs368121231
|
0.00008
|
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=)
|
rs377258966
|
0.00008
|
NM_001793.6(CDH3):c.2475C>T (p.Gly825=)
|
rs543214840
|
0.00008
|
NM_001844.5(COL2A1):c.2307C>T (p.Asp769=)
|
rs145023922
|
0.00008
|
NM_001848.3(COL6A1):c.2464+9C>T
|
rs368651226
|
0.00008
|
NM_001849.4(COL6A2):c.2301C>T (p.His767=)
|
rs138371054
|
0.00008
|
NM_001927.4(DES):c.193G>A (p.Gly65Ser)
|
rs397516692
|
0.00008
|
NM_001927.4(DES):c.642C>T (p.Asp214=)
|
rs370239228
|
0.00008
|
NM_002047.4(GARS1):c.1716G>A (p.Pro572=)
|
rs370608239
|
0.00008
|
NM_002427.4(MMP13):c.443T>A (p.Val148Glu)
|
rs374419716
|
0.00008
|
NM_002546.4(TNFRSF11B):c.69G>A (p.Thr23=)
|
rs146450643
|
0.00008
|
NM_002693.3(POLG):c.1977C>T (p.His659=)
|
rs62640030
|
0.00008
|
NM_002693.3(POLG):c.408C>G (p.Asp136Glu)
|
rs115109291
|
0.00008
|
NM_002834.5(PTPN11):c.1740T>C (p.Tyr580=)
|
rs139188627
|
0.00008
|
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala)
|
rs28936704
|
0.00008
|
NM_004006.3(DMD):c.530+7A>T
|
rs72470523
|
0.00008
|
NM_004006.3(DMD):c.733A>G (p.Ile245Val)
|
rs140510985
|
0.00008
|
NM_004006.3(DMD):c.8829G>A (p.Thr2943=)
|
rs150766816
|
0.00008
|
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr)
|
rs200433282
|
0.00008
|
NM_004369.4(COL6A3):c.6157-4T>G
|
rs536696110
|
0.00008
|
NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg)
|
rs149272208
|
0.00008
|
NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=)
|
rs587781011
|
0.00008
|
NM_004560.4(ROR2):c.1565G>A (p.Arg522Gln)
|
rs201986784
|
0.00008
|
NM_004565.3(PEX14):c.170-4C>A
|
rs764907398
|
0.00008
|
NM_004817.4(TJP2):c.1953G>T (p.Gly651=)
|
rs750134026
|
0.00008
|
NM_004820.5(CYP7B1):c.645T>C (p.Asp215=)
|
rs535511484
|
0.00008
|
NM_005045.4(RELN):c.2637C>T (p.Val879=)
|
rs544717229
|
0.00008
|
NM_005476.7(GNE):c.1242T>C (p.Leu414=)
|
rs371881711
|
0.00008
|
NM_005476.7(GNE):c.165-9C>T
|
rs760509369
|
0.00008
|
NM_005529.7(HSPG2):c.4413C>T (p.Pro1471=)
|
rs376929779
|
0.00008
|
NM_006017.3(PROM1):c.321A>C (p.Ala107=)
|
rs371975235
|
0.00008
|
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp)
|
rs543099977
|
0.00008
|
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=)
|
rs761995771
|
0.00008
|
NM_006486.3(FBLN1):c.1012G>A (p.Val338Met)
|
rs766511464
|
0.00008
|
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=)
|
rs201989024
|
0.00008
|
NM_006922.4(SCN3A):c.474-4C>T
|
rs371709966
|
0.00008
|
NM_007126.5(VCP):c.1194+3G>A
|
rs183223259
|
0.00008
|
NM_014780.5(CUL7):c.4482C>T (p.Ser1494=)
|
rs760462179
|
0.00008
|
NM_014795.4(ZEB2):c.3219C>T (p.His1073=)
|
rs139944383
|
0.00008
|
NM_015102.5(NPHP4):c.2807C>T (p.Thr936Met)
|
rs201074950
|
0.00008
|
NM_015102.5(NPHP4):c.2952G>A (p.Thr984=)
|
rs375493384
|
0.00008
|
NM_015311.3(OBSL1):c.342C>T (p.Ala114=)
|
rs760053992
|
0.00008
|
NM_015311.3(OBSL1):c.397G>C (p.Gly133Arg)
|
rs556207267
|
0.00008
|
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser)
|
rs200589374
|
0.00008
|
NM_016356.5(DCDC2):c.68G>T (p.Arg23Leu)
|
rs745333409
|
0.00008
|
NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala)
|
rs200277422
|
0.00008
|
NM_022437.3(ABCG8):c.1650G>A (p.Ala550=)
|
rs145754381
|
0.00008
|
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val)
|
rs398124386
|
0.00008
|
NM_024757.5(EHMT1):c.2595C>T (p.Asp865=)
|
rs780742937
|
0.00008
|
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala)
|
rs398124408
|
0.00008
|
NM_025074.7(FRAS1):c.1503C>T (p.Asp501=)
|
rs370655417
|
0.00008
|
NM_025193.4(HSD3B7):c.558G>A (p.Thr186=)
|
rs760192112
|
0.00008
|
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg)
|
rs369717492
|
0.00008
|
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=)
|
rs529962978
|
0.00008
|
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys)
|
rs150305490
|
0.00008
|
NM_058246.4(DNAJB6):c.342C>A (p.Phe114Leu)
|
rs373354100
|
0.00008
|
NM_058246.4(DNAJB6):c.974A>C (p.Asn325Thr)
|
rs375911119
|
0.00008
|
NM_133379.5(TTN):c.11809A>C (p.Lys3937Gln)
|
rs562658562
|
0.00008
|
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=)
|
rs147865925
|
0.00008
|
NM_138691.3(TMC1):c.1622T>C (p.Ile541Thr)
|
rs201955337
|
0.00008
|
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)
|
rs142855690
|
0.00008
|
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=)
|
rs35403035
|
0.00008
|
NM_138694.4(PKHD1):c.1833A>C (p.Thr611=)
|
rs142922408
|
0.00008
|
NM_138694.4(PKHD1):c.4866C>A (p.Leu1622=)
|
rs571966529
|
0.00008
|
NM_138694.4(PKHD1):c.5520C>T (p.Cys1840=)
|
rs535128714
|
0.00008
|
NM_138694.4(PKHD1):c.708-5C>T
|
rs371844893
|
0.00008
|
NM_138694.4(PKHD1):c.880+5C>T
|
rs759601015
|
0.00008
|
NM_144596.4(TTC8):c.267C>A (p.Arg89=)
|
rs200113889
|
0.00008
|
NM_170699.3(GPBAR1):c.-1G>A
|
rs200558126
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_173477.5(USH1G):c.491G>C (p.Arg164Pro)
|
rs144633924
|
0.00008
|
NM_173630.4(RTTN):c.4564+8C>T
|
rs563328673
|
0.00008
|
NM_182961.4(SYNE1):c.19554C>T (p.Pro6518=)
|
rs780644969
|
0.00008
|
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=)
|
rs144910464
|
0.00008
|
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=)
|
rs757104773
|
0.00008
|
NM_201384.3(PLEC):c.1506G>C (p.Gln502His)
|
rs571497788
|
0.00008
|
NM_201384.3(PLEC):c.1650C>T (p.Ser550=)
|
rs541271992
|
0.00008
|
NM_201384.3(PLEC):c.2829G>A (p.Ala943=)
|
rs369370495
|
0.00008
|
NM_201384.3(PLEC):c.4410G>A (p.Gly1470=)
|
rs782222671
|
0.00008
|
NM_201384.3(PLEC):c.4855G>A (p.Glu1619Lys)
|
rs782026068
|
0.00008
|
NM_201384.3(PLEC):c.5469C>T (p.Asp1823=)
|
rs771101893
|
0.00008
|
NM_201384.3(PLEC):c.5879G>A (p.Arg1960His)
|
rs367679924
|
0.00008
|
NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met)
|
rs201349099
|
0.00008
|
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln)
|
rs780020144
|
0.00008
|
NM_000017.4(ACADS):c.147C>G (p.Ala49=)
|
rs202193021
|
0.00007
|
NM_000035.4(ALDOB):c.1000-3T>C
|
rs369238799
|
0.00007
|
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=)
|
rs41293473
|
0.00007
|
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=)
|
rs148607710
|
0.00007
|
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)
|
rs431825302
|
0.00007
|
NM_000117.3(EMD):c.12C>T (p.Tyr4=)
|
rs782011714
|
0.00007
|
NM_000117.3(EMD):c.400-9C>T
|
rs782061626
|
0.00007
|
NM_000141.5(FGFR2):c.2124C>T (p.Pro708=)
|
rs140813163
|
0.00007
|
NM_000142.5(FGFR3):c.1830C>G (p.Ser610=)
|
rs758618182
|
0.00007
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00007
|
NM_000152.5(GAA):c.2157G>A (p.Ala719=)
|
rs201523530
|
0.00007
|
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)
|
rs730881787
|
0.00007
|
NM_000257.4(MYH7):c.114C>T (p.Phe38=)
|
rs146210693
|
0.00007
|
NM_000260.4(MYO7A):c.5480+10G>A
|
rs768513428
|
0.00007
|
NM_000271.5(NPC1):c.2911+10C>T
|
rs370382673
|
0.00007
|
NM_000283.4(PDE6B):c.1258-10T>A
|
rs727504074
|
0.00007
|
NM_000297.4(PKD2):c.1549-4T>C
|
rs374450718
|
0.00007
|
NM_000337.6(SGCD):c.69C>T (p.Tyr23=)
|
rs397517923
|
0.00007
|
NM_000362.5(TIMP3):c.321C>T (p.Arg107=)
|
rs145553035
|
0.00007
|
NM_000392.5(ABCC2):c.3379G>A (p.Val1127Ile)
|
rs370049107
|
0.00007
|
NM_000392.5(ABCC2):c.3498C>T (p.Thr1166=)
|
rs564908429
|
0.00007
|
NM_000414.4(HSD17B4):c.1327A>T (p.Met443Leu)
|
rs201767875
|
0.00007
|
NM_000426.4(LAMA2):c.6345C>T (p.Pro2115=)
|
rs200364660
|
0.00007
|
NM_000435.3(NOTCH3):c.1469G>C (p.Gly490Ala)
|
rs374248747
|
0.00007
|
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=)
|
rs202033028
|
0.00007
|
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=)
|
rs561612231
|
0.00007
|
NM_000443.4(ABCB4):c.524C>T (p.Thr175Met)
|
rs746166913
|
0.00007
|
NM_000452.3(SLC10A2):c.870G>A (p.Pro290=)
|
rs370310605
|
0.00007
|
NM_000455.5(STK11):c.357C>T (p.Asn119=)
|
rs372511774
|
0.00007
|
NM_000458.4(HNF1B):c.420C>T (p.Val140=)
|
rs370134885
|
0.00007
|
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg)
|
rs145678415
|
0.00007
|
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)
|
rs782553301
|
0.00007
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_000540.3(RYR1):c.10032C>T (p.Pro3344=)
|
rs376687300
|
0.00007
|
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser)
|
rs551509462
|
0.00007
|
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=)
|
rs143418190
|
0.00007
|
NM_000541.5(SAG):c.357G>A (p.Thr119=)
|
rs757487948
|
0.00007
|
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu)
|
rs137854065
|
0.00007
|
NM_000601.6(HGF):c.1814C>T (p.Thr605Ile)
|
rs147075806
|
0.00007
|
NM_000601.6(HGF):c.1832G>C (p.Ser611Thr)
|
rs141774517
|
0.00007
|
NM_000642.3(AGL):c.2607A>G (p.Gln869=)
|
rs747817359
|
0.00007
|
NM_000744.7(CHRNA4):c.1494C>T (p.Ala498=)
|
rs137860047
|
0.00007
|
NM_000780.4(CYP7A1):c.1215+8C>T
|
rs368417648
|
0.00007
|
NM_001040142.2(SCN2A):c.5574A>G (p.Leu1858=)
|
rs767592553
|
0.00007
|
NM_001077365.2(POMT1):c.1486+9G>A
|
rs547775333
|
0.00007
|
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=)
|
rs376373313
|
0.00007
|
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)
|
rs142540289
|
0.00007
|
NM_001083961.2(WDR62):c.4122C>T (p.Gly1374=)
|
rs773948810
|
0.00007
|
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln)
|
rs773739293
|
0.00007
|
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr)
|
rs148972050
|
0.00007
|
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)
|
rs192609440
|
0.00007
|
NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser)
|
rs797044752
|
0.00007
|
NM_001126121.2(SLC25A19):c.135T>A (p.Leu45=)
|
rs373190423
|
0.00007
|
NM_001130823.3(DNMT1):c.327C>T (p.Asn109=)
|
rs144685297
|
0.00007
|
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=)
|
rs147244033
|
0.00007
|
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys)
|
rs371391349
|
0.00007
|
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe)
|
rs201028196
|
0.00007
|
NM_001193315.2(VIPAS39):c.78C>T (p.Asp26=)
|
rs112217896
|
0.00007
|
NM_001195263.2(PDZD7):c.1638T>C (p.Asn546=)
|
rs760557332
|
0.00007
|
NM_001206979.2(NR1H4):c.658G>T (p.Ala220Ser)
|
rs180957965
|
0.00007
|
NM_001267550.2(TTN):c.102540T>C (p.Ser34180=)
|
rs368844570
|
0.00007
|
NM_001267550.2(TTN):c.104298T>C (p.Ala34766=)
|
rs751788327
|
0.00007
|
NM_001267550.2(TTN):c.104640G>A (p.Glu34880=)
|
rs373134178
|
0.00007
|
NM_001267550.2(TTN):c.104943A>G (p.Glu34981=)
|
rs372312805
|
0.00007
|
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)
|
rs772957495
|
0.00007
|
NM_001267550.2(TTN):c.13376T>C (p.Ile4459Thr)
|
rs763065439
|
0.00007
|
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser)
|
rs727503652
|
0.00007
|
NM_001267550.2(TTN):c.16581C>T (p.Val5527=)
|
rs373179717
|
0.00007
|
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg)
|
rs201229221
|
0.00007
|
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met)
|
rs727504515
|
0.00007
|
NM_001267550.2(TTN):c.31071C>T (p.His10357=)
|
rs368973334
|
0.00007
|
NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu)
|
rs768632287
|
0.00007
|
NM_001267550.2(TTN):c.39885G>A (p.Pro13295=)
|
rs756518824
|
0.00007
|
NM_001267550.2(TTN):c.40502G>A (p.Arg13501His)
|
rs571348685
|
0.00007
|
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=)
|
rs374228930
|
0.00007
|
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=)
|
rs373316165
|
0.00007
|
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His)
|
rs727503604
|
0.00007
|
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=)
|
rs200410212
|
0.00007
|
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=)
|
rs183047238
|
0.00007
|
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro)
|
rs375000725
|
0.00007
|
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln)
|
rs373062007
|
0.00007
|
NM_001267550.2(TTN):c.69660A>G (p.Ala23220=)
|
rs371996901
|
0.00007
|
NM_001267550.2(TTN):c.70163G>A (p.Arg23388Gln)
|
rs55853138
|
0.00007
|
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=)
|
rs377220635
|
0.00007
|
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro)
|
rs369671334
|
0.00007
|
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile)
|
rs199860952
|
0.00007
|
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=)
|
rs370810609
|
0.00007
|
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)
|
rs375398118
|
0.00007
|
NM_001267550.2(TTN):c.80859G>A (p.Thr26953=)
|
rs771257647
|
0.00007
|
NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu)
|
rs766419568
|
0.00007
|
NM_001267550.2(TTN):c.96883G>A (p.Val32295Met)
|
rs199532781
|
0.00007
|
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His)
|
rs397517775
|
0.00007
|
NM_001292063.2(OTOG):c.6405C>T (p.Thr2135=)
|
rs187255209
|
0.00007
|
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr)
|
rs201837579
|
0.00007
|
NM_001330078.2(NRXN1):c.2037G>A (p.Pro679=)
|
rs199714221
|
0.00007
|
NM_001360.3(DHCR7):c.855C>T (p.Phe285=)
|
rs781026169
|
0.00007
|
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His)
|
rs567038987
|
0.00007
|
NM_001374385.1(ATP8B1):c.2904C>T (p.Tyr968=)
|
rs376358532
|
0.00007
|
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr)
|
rs775475186
|
0.00007
|
NM_001378615.1(CC2D2A):c.3652C>A (p.Arg1218=)
|
rs375278294
|
0.00007
|
NM_001378615.1(CC2D2A):c.4512A>G (p.Leu1504=)
|
rs762143074
|
0.00007
|
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=)
|
rs367625071
|
0.00007
|
NM_001848.3(COL6A1):c.357G>A (p.Ala119=)
|
rs747037863
|
0.00007
|
NM_001849.4(COL6A2):c.2904C>T (p.Asn968=)
|
rs143569686
|
0.00007
|
NM_001849.4(COL6A2):c.3018G>A (p.Ala1006=)
|
rs61735832
|
0.00007
|
NM_001849.4(COL6A2):c.981C>T (p.Asn327=)
|
rs768836349
|
0.00007
|
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser)
|
rs184896618
|
0.00007
|
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala)
|
rs191300661
|
0.00007
|
NM_002335.4(LRP5):c.996C>T (p.Asn332=)
|
rs956302502
|
0.00007
|
NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala)
|
rs753002290
|
0.00007
|
NM_002618.4(PEX13):c.408T>A (p.Ile136=)
|
rs145776973
|
0.00007
|
NM_002693.3(POLG):c.1545C>T (p.Ile515=)
|
rs537156830
|
0.00007
|
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr)
|
rs568913937
|
0.00007
|
NM_002834.5(PTPN11):c.132C>T (p.Ser44=)
|
rs397507502
|
0.00007
|
NM_002906.4(RDX):c.777A>G (p.Pro259=)
|
rs142773831
|
0.00007
|
NM_002968.3(SALL1):c.3270C>T (p.Asn1090=)
|
rs143637930
|
0.00007
|
NM_003073.5(SMARCB1):c.585C>T (p.Ile195=)
|
rs757546528
|
0.00007
|
NM_003482.4(KMT2D):c.2646G>A (p.Leu882=)
|
rs376227770
|
0.00007
|
NM_003482.4(KMT2D):c.7829T>C (p.Leu2610Pro)
|
rs200998047
|
0.00007
|
NM_003630.3(PEX3):c.473C>G (p.Pro158Arg)
|
rs199781957
|
0.00007
|
NM_003742.4(ABCB11):c.1055G>A (p.Gly352Glu)
|
rs201351924
|
0.00007
|
NM_003816.3(ADAM9):c.1074T>C (p.Asp358=)
|
rs202060547
|
0.00007
|
NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala)
|
rs368996545
|
0.00007
|
NM_004006.3(DMD):c.2988A>G (p.Leu996=)
|
rs148835707
|
0.00007
|
NM_004006.3(DMD):c.3450G>A (p.Glu1150=)
|
rs142967431
|
0.00007
|
NM_004006.3(DMD):c.5548A>G (p.Lys1850Glu)
|
rs141261536
|
0.00007
|
NM_004006.3(DMD):c.863G>C (p.Arg288Thr)
|
rs767304770
|
0.00007
|
NM_004006.3(DMD):c.9093C>T (p.Val3031=)
|
rs72466563
|
0.00007
|
NM_004006.3(DMD):c.9325G>T (p.Ala3109Ser)
|
rs201718067
|
0.00007
|
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln)
|
rs138085358
|
0.00007
|
NM_004281.4(BAG3):c.892G>A (p.Val298Met)
|
rs150048651
|
0.00007
|
NM_004369.4(COL6A3):c.1977C>T (p.Arg659=)
|
rs141280228
|
0.00007
|
NM_004369.4(COL6A3):c.7590G>A (p.Val2530=)
|
rs115591088
|
0.00007
|
NM_004380.3(CREBBP):c.3982+10G>A
|
rs370093745
|
0.00007
|
NM_004393.6(DAG1):c.183T>C (p.Val61=)
|
rs775928044
|
0.00007
|
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln)
|
rs767474960
|
0.00007
|
NM_004565.3(PEX14):c.1013A>G (p.Asp338Gly)
|
rs201120958
|
0.00007
|
NM_004817.4(TJP2):c.212C>T (p.Pro71Leu)
|
rs142847960
|
0.00007
|
NM_004817.4(TJP2):c.2775G>A (p.Thr925=)
|
rs374453976
|
0.00007
|
NM_005529.7(HSPG2):c.2558+10A>G
|
rs756733330
|
0.00007
|
NM_005529.7(HSPG2):c.5934G>A (p.Arg1978=)
|
rs557762861
|
0.00007
|
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp)
|
rs535956121
|
0.00007
|
NM_006005.3(WFS1):c.726C>T (p.Ile242=)
|
rs71524381
|
0.00007
|
NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=)
|
rs151180675
|
0.00007
|
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=)
|
rs138527421
|
0.00007
|
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=)
|
rs755298136
|
0.00007
|
NM_006261.5(PROP1):c.423C>T (p.Ala141=)
|
rs200977367
|
0.00007
|
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00007
|
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=)
|
rs147319894
|
0.00007
|
NM_006662.3(SRCAP):c.2892G>A (p.Leu964=)
|
rs556745550
|
0.00007
|
NM_012210.4(TRIM32):c.238C>T (p.Leu80=)
|
rs760820148
|
0.00007
|
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu)
|
rs150047440
|
0.00007
|
NM_015046.7(SETX):c.1880T>C (p.Met627Thr)
|
rs199707503
|
0.00007
|
NM_015102.5(NPHP4):c.2902G>A (p.Ala968Thr)
|
rs375090704
|
0.00007
|
NM_015102.5(NPHP4):c.3012G>A (p.Thr1004=)
|
rs185162256
|
0.00007
|
NM_015702.3(MMADHC):c.600C>T (p.Leu200=)
|
rs754142876
|
0.00007
|
NM_015884.4(MBTPS2):c.706A>G (p.Ile236Val)
|
rs369520528
|
0.00007
|
NM_017534.6(MYH2):c.3384C>T (p.Ile1128=)
|
rs139130605
|
0.00007
|
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=)
|
rs199793164
|
0.00007
|
NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=)
|
rs367848204
|
0.00007
|
NM_017777.4(MKS1):c.468C>T (p.Val156=)
|
rs199684837
|
0.00007
|
NM_017780.4(CHD7):c.331C>T (p.Pro111Ser)
|
rs147164392
|
0.00007
|
NM_018136.5(ASPM):c.6550C>T (p.Arg2184Trp)
|
rs138727741
|
0.00007
|
NM_018451.5(CPAP):c.3663G>A (p.Pro1221=)
|
rs200291056
|
0.00007
|
NM_018941.4(CLN8):c.522C>T (p.Cys174=)
|
rs148417620
|
0.00007
|
NM_018965.4(TREM2):c.407G>A (p.Arg136Gln)
|
rs149622783
|
0.00007
|
NM_020745.4(AARS2):c.761G>C (p.Gly254Ala)
|
rs199919912
|
0.00007
|
NM_021830.5(TWNK):c.1827C>A (p.Arg609=)
|
rs146601680
|
0.00007
|
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)
|
rs181611778
|
0.00007
|
NM_022436.3(ABCG5):c.1500A>G (p.Gly500=)
|
rs767584159
|
0.00007
|
NM_022437.3(ABCG8):c.1200G>A (p.Thr400=)
|
rs369131115
|
0.00007
|
NM_022437.3(ABCG8):c.351G>A (p.Val117=)
|
rs41281459
|
0.00007
|
NM_022437.3(ABCG8):c.450C>T (p.His150=)
|
rs200013237
|
0.00007
|
NM_024408.4(NOTCH2):c.4312G>A (p.Val1438Ile)
|
rs745861610
|
0.00007
|
NM_025074.7(FRAS1):c.39G>A (p.Ala13=)
|
rs773457837
|
0.00007
|
NM_025193.4(HSD3B7):c.*1C>T
|
rs781013516
|
0.00007
|
NM_025193.4(HSD3B7):c.1047G>C (p.Ser349=)
|
rs746926891
|
0.00007
|
NM_030662.4(MAP2K2):c.648C>T (p.Ser216=)
|
rs147276536
|
0.00007
|
NM_030665.4(RAI1):c.1499C>T (p.Pro500Leu)
|
rs775231187
|
0.00007
|
NM_032119.4(ADGRV1):c.10342G>A (p.Val3448Met)
|
rs199715642
|
0.00007
|
NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser)
|
rs576429729
|
0.00007
|
NM_032119.4(ADGRV1):c.1374T>A (p.Phe458Leu)
|
rs373868639
|
0.00007
|
NM_032119.4(ADGRV1):c.2991T>C (p.Ile997=)
|
rs570773279
|
0.00007
|
NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=)
|
rs373667458
|
0.00007
|
NM_033337.3(CAV3):c.244G>A (p.Val82Ile)
|
rs112626848
|
0.00007
|
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg)
|
rs201615936
|
0.00007
|
NM_058246.4(DNAJB6):c.564C>T (p.Phe188=)
|
rs145897776
|
0.00007
|
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=)
|
rs370328225
|
0.00007
|
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=)
|
rs147576338
|
0.00007
|
NM_145200.5(CABP4):c.579G>A (p.Leu193=)
|
rs139392451
|
0.00007
|
NM_170707.4(LMNA):c.1530C>T (p.Thr510=)
|
rs138098342
|
0.00007
|
NM_181303.2(NLGN3):c.282G>A (p.Ser94=)
|
rs143817848
|
0.00007
|
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr)
|
rs200997641
|
0.00007
|
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=)
|
rs763930147
|
0.00007
|
NM_182961.4(SYNE1):c.17347-6C>T
|
rs201692248
|
0.00007
|
NM_182961.4(SYNE1):c.20200-3T>C
|
rs770710698
|
0.00007
|
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=)
|
rs201392317
|
0.00007
|
NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=)
|
rs371204427
|
0.00007
|
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val)
|
rs746864807
|
0.00007
|
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=)
|
rs146567226
|
0.00007
|
NM_194248.3(OTOF):c.843C>T (p.Asp281=)
|
rs368728682
|
0.00007
|
NM_201384.3(PLEC):c.12255C>T (p.Asp4085=)
|
rs782193445
|
0.00007
|
NM_201384.3(PLEC):c.1668C>T (p.Gly556=)
|
rs369796183
|
0.00007
|
NM_201384.3(PLEC):c.2178+10G>A
|
rs781817693
|
0.00007
|
NM_201384.3(PLEC):c.3186G>A (p.Thr1062=)
|
rs782437578
|
0.00007
|
NM_201384.3(PLEC):c.4326G>A (p.Ala1442=)
|
rs369943756
|
0.00007
|
NM_201384.3(PLEC):c.6222C>T (p.Ser2074=)
|
rs370347438
|
0.00007
|
NM_201384.3(PLEC):c.8481C>T (p.Asp2827=)
|
rs377660488
|
0.00007
|
NM_201384.3(PLEC):c.8617G>A (p.Glu2873Lys)
|
rs377748878
|
0.00007
|
NM_201384.3(PLEC):c.933C>T (p.Phe311=)
|
rs369363676
|
0.00007
|
NM_201384.3(PLEC):c.9896G>A (p.Arg3299Gln)
|
rs368318946
|
0.00007
|
NM_206933.4(USH2A):c.3861A>G (p.Lys1287=)
|
rs750789180
|
0.00007
|
NM_207346.3(TSEN54):c.468+8C>T
|
rs117456384
|
0.00007
|
NM_207391.3(RGS9BP):c.96C>G (p.Asp32Glu)
|
rs201148742
|
0.00007
|
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile)
|
rs199804735
|
0.00006
|
NM_000051.4(ATM):c.5352C>T (p.Asn1784=)
|
rs140641762
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000088.4(COL1A1):c.2508C>T (p.Gly836=)
|
rs200620805
|
0.00006
|
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys)
|
rs761079177
|
0.00006
|
NM_000102.4(CYP17A1):c.1524C>T (p.Thr508=)
|
rs145067399
|
0.00006
|
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
NM_000138.5(FBN1):c.3464-6C>T
|
rs375596551
|
0.00006
|
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu)
|
rs144995231
|
0.00006
|
NM_000152.5(GAA):c.1143C>T (p.Thr381=)
|
rs111832449
|
0.00006
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
NM_000152.5(GAA):c.318C>T (p.Arg106=)
|
rs762542246
|
0.00006
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00006
|
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr)
|
rs141471799
|
0.00006
|
NM_000208.4(INSR):c.3042C>T (p.Asp1014=)
|
rs369686949
|
0.00006
|
NM_000214.3(JAG1):c.2298T>C (p.Phe766=)
|
rs771544217
|
0.00006
|
NM_000214.3(JAG1):c.2877G>A (p.Ala959=)
|
rs142085300
|
0.00006
|
NM_000235.4(LIPA):c.618C>A (p.Val206=)
|
rs763651849
|
0.00006
|
NM_000249.4(MLH1):c.453G>A (p.Thr151=)
|
rs369521379
|
0.00006
|
NM_000257.4(MYH7):c.1000-7C>T
|
rs200129563
|
0.00006
|
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=)
|
rs765895405
|
0.00006
|
NM_000271.5(NPC1):c.1542G>A (p.Leu514=)
|
rs371076898
|
0.00006
|
NM_000295.5(SERPINA1):c.1134G>A (p.Glu378=)
|
rs148362959
|
0.00006
|
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=)
|
rs189230866
|
0.00006
|
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=)
|
rs200868190
|
0.00006
|
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg)
|
rs45475899
|
0.00006
|
NM_000350.3(ABCA4):c.1267C>T (p.His423Tyr)
|
rs138044729
|
0.00006
|
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys)
|
rs200563930
|
0.00006
|
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)
|
rs185040406
|
0.00006
|
NM_000360.4(TH):c.645C>T (p.His215=)
|
rs768037080
|
0.00006
|
NM_000392.5(ABCC2):c.3576C>G (p.Thr1192=)
|
rs146575217
|
0.00006
|
NM_000392.5(ABCC2):c.3987+10G>A
|
rs373365135
|
0.00006
|
NM_000392.5(ABCC2):c.99G>A (p.Val33=)
|
rs376241522
|
0.00006
|
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val)
|
rs28943590
|
0.00006
|
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=)
|
rs766572560
|
0.00006
|
NM_000452.3(SLC10A2):c.261G>A (p.Ser87=)
|
rs200682819
|
0.00006
|
NM_000458.4(HNF1B):c.313G>A (p.Glu105Lys)
|
rs199572129
|
0.00006
|
NM_000458.4(HNF1B):c.36C>T (p.Leu12=)
|
rs749370057
|
0.00006
|
NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu)
|
rs36076514
|
0.00006
|
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)
|
rs374167385
|
0.00006
|
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr)
|
rs149249195
|
0.00006
|
NM_000492.4(CFTR):c.3964-16T>C
|
rs199672530
|
0.00006
|
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)
|
rs761669740
|
0.00006
|
NM_000492.4(CFTR):c.663G>A (p.Ala221=)
|
rs758147990
|
0.00006
|
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=)
|
rs748743312
|
0.00006
|
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn)
|
rs193922749
|
0.00006
|
NM_000540.3(RYR1):c.2996G>A (p.Arg999His)
|
rs180714609
|
0.00006
|
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys)
|
rs777049924
|
0.00006
|
NM_000541.5(SAG):c.468C>T (p.Phe156=)
|
rs375593027
|
0.00006
|
NM_000543.5(SMPD1):c.373C>T (p.Leu125=)
|
rs370048730
|
0.00006
|
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val)
|
rs45486591
|
0.00006
|
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met)
|
rs772687631
|
0.00006
|
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=)
|
rs398123514
|
0.00006
|
NM_000744.7(CHRNA4):c.1454G>A (p.Arg485Gln)
|
rs755416498
|
0.00006
|
NM_000784.4(CYP27A1):c.420C>T (p.His140=)
|
rs139415581
|
0.00006
|
NM_000823.4(GHRHR):c.138G>A (p.Glu46=)
|
rs375206873
|
0.00006
|
NM_000823.4(GHRHR):c.885G>T (p.Val295=)
|
rs146944568
|
0.00006
|
NM_000875.5(IGF1R):c.1692C>T (p.Pro564=)
|
rs9282723
|
0.00006
|
NM_001025295.3(IFITM5):c.-10G>A
|
rs770089325
|
0.00006
|
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=)
|
rs370249358
|
0.00006
|
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=)
|
rs144325450
|
0.00006
|
NM_001077446.4(TSEN34):c.-8G>A
|
rs573039542
|
0.00006
|
NM_001083962.2(TCF4):c.1245T>C (p.His415=)
|
rs148909575
|
0.00006
|
NM_001110556.2(FLNA):c.2023-8C>T
|
rs587780335
|
0.00006
|
NM_001110556.2(FLNA):c.5448G>A (p.Ala1816=)
|
rs782806731
|
0.00006
|
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)
|
rs61753000
|
0.00006
|
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly)
|
rs138211345
|
0.00006
|
NM_001110792.2(MECP2):c.90C>G (p.Leu30=)
|
rs372500343
|
0.00006
|
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=)
|
rs781940286
|
0.00006
|
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=)
|
rs780515850
|
0.00006
|
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)
|
rs751947412
|
0.00006
|
NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=)
|
rs144850331
|
0.00006
|
NM_001128840.3(CACNA1D):c.5439C>T (p.Ser1813=)
|
rs761519681
|
0.00006
|
NM_001130987.2(DYSF):c.378G>A (p.Pro126=)
|
rs377056951
|
0.00006
|
NM_001144967.3(NEDD4L):c.965A>G (p.Asn322Ser)
|
rs749019037
|
0.00006
|
NM_001164508.2(NEB):c.10233T>C (p.Ala3411=)
|
rs727504033
|
0.00006
|
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)
|
rs201079458
|
0.00006
|
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=)
|
rs369688121
|
0.00006
|
NM_001170629.2(CHD8):c.6473G>A (p.Arg2158His)
|
rs745375504
|
0.00006
|
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)
|
rs900061092
|
0.00006
|
NM_001256317.3(TMPRSS3):c.915C>T (p.Ile305=)
|
rs774844255
|
0.00006
|
NM_001267550.2(TTN):c.102398T>C (p.Ile34133Thr)
|
rs764179161
|
0.00006
|
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys)
|
rs777626473
|
0.00006
|
NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp)
|
rs200716930
|
0.00006
|
NM_001267550.2(TTN):c.105090C>T (p.Asp35030=)
|
rs72629789
|
0.00006
|
NM_001267550.2(TTN):c.106044C>A (p.Asn35348Lys)
|
rs145560044
|
0.00006
|
NM_001267550.2(TTN):c.15185G>A (p.Ser5062Asn)
|
rs371687650
|
0.00006
|
NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys)
|
rs561557554
|
0.00006
|
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=)
|
rs377556808
|
0.00006
|
NM_001267550.2(TTN):c.19190C>T (p.Thr6397Met)
|
rs199564845
|
0.00006
|
NM_001267550.2(TTN):c.21521C>T (p.Ala7174Val)
|
rs764832849
|
0.00006
|
NM_001267550.2(TTN):c.2573C>T (p.Ser858Leu)
|
rs772294126
|
0.00006
|
NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu)
|
rs369947439
|
0.00006
|
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu)
|
rs188234466
|
0.00006
|
NM_001267550.2(TTN):c.26056G>A (p.Gly8686Ser)
|
rs370578197
|
0.00006
|
NM_001267550.2(TTN):c.27652G>T (p.Val9218Phe)
|
rs746558975
|
0.00006
|
NM_001267550.2(TTN):c.42415+7G>A
|
rs772004291
|
0.00006
|
NM_001267550.2(TTN):c.4247G>A (p.Arg1416His)
|
rs750278602
|
0.00006
|
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr)
|
rs369623392
|
0.00006
|
NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu)
|
rs201390600
|
0.00006
|
NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu)
|
rs751929345
|
0.00006
|
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr)
|
rs184078045
|
0.00006
|
NM_001267550.2(TTN):c.47598A>G (p.Leu15866=)
|
rs879099244
|
0.00006
|
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His)
|
rs72677245
|
0.00006
|
NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp)
|
rs770902874
|
0.00006
|
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val)
|
rs373305248
|
0.00006
|
NM_001267550.2(TTN):c.53295T>C (p.Pro17765=)
|
rs771792080
|
0.00006
|
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)
|
rs72646819
|
0.00006
|
NM_001267550.2(TTN):c.55784C>G (p.Thr18595Arg)
|
rs770499179
|
0.00006
|
NM_001267550.2(TTN):c.55809G>A (p.Pro18603=)
|
rs750472100
|
0.00006
|
NM_001267550.2(TTN):c.56943G>A (p.Ala18981=)
|
rs370998052
|
0.00006
|
NM_001267550.2(TTN):c.5740G>A (p.Ala1914Thr)
|
rs118161093
|
0.00006
|
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)
|
rs397517630
|
0.00006
|
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe)
|
rs368025965
|
0.00006
|
NM_001267550.2(TTN):c.60654G>A (p.Thr20218=)
|
rs776141268
|
0.00006
|
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His)
|
rs370887455
|
0.00006
|
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile)
|
rs764777213
|
0.00006
|
NM_001267550.2(TTN):c.62844T>G (p.Pro20948=)
|
rs770335539
|
0.00006
|
NM_001267550.2(TTN):c.64175G>A (p.Arg21392His)
|
rs777176324
|
0.00006
|
NM_001267550.2(TTN):c.64673-5T>C
|
rs530496528
|
0.00006
|
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)
|
rs201284459
|
0.00006
|
NM_001267550.2(TTN):c.68208T>A (p.Val22736=)
|
rs727503575
|
0.00006
|
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr)
|
rs375202101
|
0.00006
|
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr)
|
rs371818894
|
0.00006
|
NM_001267550.2(TTN):c.72992G>A (p.Arg24331His)
|
rs755174224
|
0.00006
|
NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln)
|
rs201694149
|
0.00006
|
NM_001267550.2(TTN):c.75099C>T (p.Asp25033=)
|
rs370272814
|
0.00006
|
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup)
|
rs772268958
|
0.00006
|
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu)
|
rs190721759
|
0.00006
|
NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn)
|
rs757300589
|
0.00006
|
NM_001267550.2(TTN):c.96225T>A (p.Val32075=)
|
rs752745266
|
0.00006
|
NM_001267550.2(TTN):c.9639C>T (p.Ser3213=)
|
rs760666570
|
0.00006
|
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn)
|
rs764561909
|
0.00006
|
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser)
|
rs202011992
|
0.00006
|
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro)
|
rs184922462
|
0.00006
|
NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr)
|
rs201226974
|
0.00006
|
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=)
|
rs200768501
|
0.00006
|
NM_001330260.2(SCN8A):c.3135C>T (p.Ile1045=)
|
rs550579591
|
0.00006
|
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln)
|
rs369346315
|
0.00006
|
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=)
|
rs373866956
|
0.00006
|
NM_001360.3(DHCR7):c.1011C>T (p.Ala337=)
|
rs369382960
|
0.00006
|
NM_001360.3(DHCR7):c.288C>T (p.Ala96=)
|
rs745595242
|
0.00006
|
NM_001360.3(DHCR7):c.957G>A (p.Thr319=)
|
rs200157761
|
0.00006
|
NM_001365536.1(SCN9A):c.642A>G (p.Arg214=)
|
rs376908183
|
0.00006
|
NM_001374353.1(GLI2):c.2089G>A (p.Ala697Thr)
|
rs553780090
|
0.00006
|
NM_001374385.1(ATP8B1):c.297A>T (p.Thr99=)
|
rs575921074
|
0.00006
|
NM_001378615.1(CC2D2A):c.1689C>T (p.His563=)
|
rs755367503
|
0.00006
|
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=)
|
rs398124433
|
0.00006
|
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=)
|
rs533251927
|
0.00006
|
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu)
|
rs144626200
|
0.00006
|
NM_001457.4(FLNB):c.1946G>A (p.Arg649Gln)
|
rs145910735
|
0.00006
|
NM_001458.5(FLNC):c.1505A>T (p.Lys502Met)
|
rs780486915
|
0.00006
|
NM_001701.4(BAAT):c.762G>A (p.Thr254=)
|
rs760488689
|
0.00006
|
NM_001844.5(COL2A1):c.3435+18C>T
|
rs375024988
|
0.00006
|
NM_001844.5(COL2A1):c.4136G>A (p.Arg1379His)
|
rs754487319
|
0.00006
|
NM_001848.3(COL6A1):c.2355C>A (p.Gly785=)
|
rs149910296
|
0.00006
|
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met)
|
rs201094892
|
0.00006
|
NM_001849.4(COL6A2):c.2634G>A (p.Ala878=)
|
rs143749884
|
0.00006
|
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys)
|
rs373611722
|
0.00006
|
NM_001851.6(COL9A1):c.635T>C (p.Ile212Thr)
|
rs141776183
|
0.00006
|
NM_001909.5(CTSD):c.111G>A (p.Ser37=)
|
rs535140505
|
0.00006
|
NM_001909.5(CTSD):c.267C>G (p.Pro89=)
|
rs139154882
|
0.00006
|
NM_001931.5(DLAT):c.165C>G (p.Val55=)
|
rs199520186
|
0.00006
|
NM_001966.4(EHHADH):c.298G>A (p.Gly100Arg)
|
rs768718791
|
0.00006
|
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=)
|
rs371640952
|
0.00006
|
NM_002335.4(LRP5):c.4272C>T (p.His1424=)
|
rs145226802
|
0.00006
|
NM_002397.5(MEF2C):c.759A>G (p.Pro253=)
|
rs368575766
|
0.00006
|
NM_002473.6(MYH9):c.2907C>T (p.Thr969=)
|
rs767461889
|
0.00006
|
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)
|
rs190546350
|
0.00006
|
NM_002693.3(POLG):c.2601T>C (p.Pro867=)
|
rs201749977
|
0.00006
|
NM_002693.3(POLG):c.3216C>G (p.Thr1072=)
|
rs146936870
|
0.00006
|
NM_002755.4(MAP2K1):c.277G>A (p.Val93Ile)
|
rs151207265
|
0.00006
|
NM_002863.5(PYGL):c.1758G>A (p.Thr586=)
|
rs755485474
|
0.00006
|
NM_002968.3(SALL1):c.1715C>T (p.Thr572Met)
|
rs373471563
|
0.00006
|
NM_002979.5(SCP2):c.855A>G (p.Ala285=)
|
rs185811440
|
0.00006
|
NM_003238.6(TGFB2):c.644-4C>T
|
rs11466408
|
0.00006
|
NM_003482.4(KMT2D):c.15273G>A (p.Lys5091=)
|
rs398123727
|
0.00006
|
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=)
|
rs143063879
|
0.00006
|
NM_003482.4(KMT2D):c.6345C>T (p.Ser2115=)
|
rs368856357
|
0.00006
|
NM_003742.4(ABCB11):c.1465C>G (p.Leu489Val)
|
rs944713270
|
0.00006
|
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)
|
rs201800225
|
0.00006
|
NM_003742.4(ABCB11):c.2616C>T (p.Ala872=)
|
rs528640585
|
0.00006
|
NM_003742.4(ABCB11):c.3412-7T>C
|
rs757040670
|
0.00006
|
NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys)
|
rs199841445
|
0.00006
|
NM_003839.4(TNFRSF11A):c.1296G>A (p.Pro432=)
|
rs547088539
|
0.00006
|
NM_003839.4(TNFRSF11A):c.1416C>T (p.Cys472=)
|
rs771249524
|
0.00006
|
NM_003839.4(TNFRSF11A):c.423C>T (p.His141=)
|
rs763226980
|
0.00006
|
NM_004006.3(DMD):c.1704+3G>A
|
rs773123973
|
0.00006
|
NM_004006.3(DMD):c.3047G>A (p.Arg1016Gln)
|
rs139772014
|
0.00006
|
NM_004006.3(DMD):c.3445A>G (p.Lys1149Glu)
|
rs144667422
|
0.00006
|
NM_004006.3(DMD):c.4721G>A (p.Arg1574His)
|
rs755206033
|
0.00006
|
NM_004006.3(DMD):c.4862T>C (p.Ile1621Thr)
|
rs377412251
|
0.00006
|
NM_004006.3(DMD):c.5599C>G (p.Gln1867Glu)
|
rs144718274
|
0.00006
|
NM_004006.3(DMD):c.7051T>C (p.Leu2351=)
|
rs367747168
|
0.00006
|
NM_004369.4(COL6A3):c.2754C>T (p.Tyr918=)
|
rs114492689
|
0.00006
|
NM_004369.4(COL6A3):c.3732C>T (p.Ala1244=)
|
rs193265138
|
0.00006
|
NM_004369.4(COL6A3):c.4662C>T (p.Asp1554=)
|
rs764225803
|
0.00006
|
NM_004369.4(COL6A3):c.4677C>T (p.Phe1559=)
|
rs147215386
|
0.00006
|
NM_004369.4(COL6A3):c.6930+4C>T
|
rs375657891
|
0.00006
|
NM_004369.4(COL6A3):c.7755T>C (p.His2585=)
|
rs145581705
|
0.00006
|
NM_004380.3(CREBBP):c.2415G>A (p.Ala805=)
|
rs368664039
|
0.00006
|
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=)
|
rs375462934
|
0.00006
|
NM_004393.6(DAG1):c.1773C>T (p.Phe591=)
|
rs2229010
|
0.00006
|
NM_004393.6(DAG1):c.735G>A (p.Pro245=)
|
rs748164001
|
0.00006
|
NM_004393.6(DAG1):c.927C>T (p.Arg309=)
|
rs551679833
|
0.00006
|
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr)
|
rs142386294
|
0.00006
|
NM_004560.4(ROR2):c.2628G>A (p.Thr876=)
|
rs369201767
|
0.00006
|
NM_004817.4(TJP2):c.2334C>T (p.Thr778=)
|
rs183285809
|
0.00006
|
NM_004817.4(TJP2):c.2880+17C>T
|
rs778212657
|
0.00006
|
NM_004820.5(CYP7B1):c.1476G>A (p.Gln492=)
|
rs372800597
|
0.00006
|
NM_005476.7(GNE):c.1281+6A>T
|
rs201025841
|
0.00006
|
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=)
|
rs573932867
|
0.00006
|
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His)
|
rs775389963
|
0.00006
|
NM_005529.7(HSPG2):c.9291C>T (p.Tyr3097=)
|
rs534949106
|
0.00006
|
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala)
|
rs553805862
|
0.00006
|
NM_006015.6(ARID1A):c.1715C>T (p.Thr572Met)
|
rs778345898
|
0.00006
|
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg)
|
rs752992538
|
0.00006
|
NM_006031.6(PCNT):c.405C>T (p.Val135=)
|
rs371917839
|
0.00006
|
NM_006031.6(PCNT):c.930C>T (p.His310=)
|
rs778056605
|
0.00006
|
NM_006208.3(ENPP1):c.2088C>T (p.Thr696=)
|
rs142835743
|
0.00006
|
NM_006432.5(NPC2):c.270T>C (p.Pro90=)
|
rs758503440
|
0.00006
|
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu)
|
rs200175704
|
0.00006
|
NM_006922.4(SCN3A):c.5394A>G (p.Glu1798=)
|
rs746501220
|
0.00006
|
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe)
|
rs41286294
|
0.00006
|
NM_012254.3(SLC27A5):c.1668A>G (p.Arg556=)
|
rs370902216
|
0.00006
|
NM_012470.4(TNPO3):c.2599-6A>G
|
rs374776250
|
0.00006
|
NM_013444.4(UBQLN2):c.1420C>G (p.Pro474Ala)
|
rs761503297
|
0.00006
|
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=)
|
rs139949668
|
0.00006
|
NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=)
|
rs368108883
|
0.00006
|
NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln)
|
rs189731792
|
0.00006
|
NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile)
|
rs531991442
|
0.00006
|
NM_014324.6(AMACR):c.429G>A (p.Pro143=)
|
rs368427062
|
0.00006
|
NM_014324.6(AMACR):c.90T>G (p.Arg30=)
|
rs769780647
|
0.00006
|
NM_014780.5(CUL7):c.1005G>A (p.Leu335=)
|
rs201310376
|
0.00006
|
NM_014780.5(CUL7):c.3747G>A (p.Leu1249=)
|
rs141211365
|
0.00006
|
NM_014780.5(CUL7):c.4713C>T (p.Ile1571=)
|
rs368539088
|
0.00006
|
NM_014989.7(RIMS1):c.1533G>A (p.Pro511=)
|
rs201473375
|
0.00006
|
NM_014989.7(RIMS1):c.4506-5G>A
|
rs201556693
|
0.00006
|
NM_015102.5(NPHP4):c.2238C>T (p.Thr746=)
|
rs756449736
|
0.00006
|
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=)
|
rs778306754
|
0.00006
|
NM_015192.4(PLCB1):c.1188G>A (p.Ala396=)
|
rs202109404
|
0.00006
|
NM_015295.3(SMCHD1):c.4461A>G (p.Gln1487=)
|
rs763699437
|
0.00006
|
NM_015634.4(KIFBP):c.1314T>G (p.Thr438=)
|
rs776013730
|
0.00006
|
NM_016239.4(MYO15A):c.6357G>A (p.Ala2119=)
|
rs374951514
|
0.00006
|
NM_016239.4(MYO15A):c.6729G>A (p.Thr2243=)
|
rs531965733
|
0.00006
|
NM_016729.3(FOLR1):c.215A>G (p.Gln72Arg)
|
rs148345688
|
0.00006
|
NM_017780.4(CHD7):c.4534-20C>T
|
rs727503866
|
0.00006
|
NM_017780.4(CHD7):c.911T>C (p.Ile304Thr)
|
rs537091457
|
0.00006
|
NM_018100.4(EFHC1):c.1852-6C>G
|
rs372507832
|
0.00006
|
NM_018136.5(ASPM):c.4443A>G (p.Leu1481=)
|
rs374040448
|
0.00006
|
NM_020184.4(CNNM4):c.1587G>A (p.Lys529=)
|
rs569907931
|
0.00006
|
NM_020451.3(SELENON):c.465G>A (p.Thr155=)
|
rs753774853
|
0.00006
|
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=)
|
rs143678590
|
0.00006
|
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=)
|
rs141802876
|
0.00006
|
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met)
|
rs373041291
|
0.00006
|
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=)
|
rs372172457
|
0.00006
|
NM_022124.6(CDH23):c.870C>T (p.Ser290=)
|
rs375292899
|
0.00006
|
NM_022356.4(P3H1):c.756C>T (p.Tyr252=)
|
rs770943260
|
0.00006
|
NM_022489.4(INF2):c.1864C>G (p.Arg622Gly)
|
rs539256832
|
0.00006
|
NM_024301.5(FKRP):c.1140G>A (p.Gly380=)
|
rs552260353
|
0.00006
|
NM_024408.4(NOTCH2):c.3702T>C (p.His1234=)
|
rs376503331
|
0.00006
|
NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=)
|
rs771638958
|
0.00006
|
NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser)
|
rs144936899
|
0.00006
|
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile)
|
rs201403389
|
0.00006
|
NM_024649.5(BBS1):c.858C>T (p.Ile286=)
|
rs746775716
|
0.00006
|
NM_024757.5(EHMT1):c.188C>T (p.Ala63Val)
|
rs138292762
|
0.00006
|
NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln)
|
rs140111079
|
0.00006
|
NM_030665.4(RAI1):c.1488G>A (p.Pro496=)
|
rs727504116
|
0.00006
|
NM_030665.4(RAI1):c.3689C>A (p.Ala1230Glu)
|
rs374187267
|
0.00006
|
NM_030665.4(RAI1):c.4711G>A (p.Ala1571Thr)
|
rs779651867
|
0.00006
|
NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=)
|
rs142639587
|
0.00006
|
NM_032119.4(ADGRV1):c.15987C>T (p.Tyr5329=)
|
rs142097643
|
0.00006
|
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser)
|
rs397517427
|
0.00006
|
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)
|
rs200058876
|
0.00006
|
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu)
|
rs528009333
|
0.00006
|
NM_080916.3(DGUOK):c.758A>G (p.Asn253Ser)
|
rs200169027
|
0.00006
|
NM_138694.4(PKHD1):c.2091G>A (p.Thr697=)
|
rs147826962
|
0.00006
|
NM_138694.4(PKHD1):c.3628+9C>A
|
rs552339299
|
0.00006
|
NM_139058.3(ARX):c.1269C>T (p.His423=)
|
rs794727656
|
0.00006
|
NM_144672.4(OTOA):c.1488+8G>A
|
rs375767505
|
0.00006
|
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=)
|
rs373968888
|
0.00006
|
NM_153240.5(NPHP3):c.255G>A (p.Glu85=)
|
rs146839563
|
0.00006
|
NM_170707.4(LMNA):c.1051A>C (p.Arg351=)
|
rs771623461
|
0.00006
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)
|
rs267607606
|
0.00006
|
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=)
|
rs770187706
|
0.00006
|
NM_181332.3(NLGN4X):c.48G>A (p.Pro16=)
|
rs398124365
|
0.00006
|
NM_182914.3(SYNE2):c.15689A>G (p.Lys5230Arg)
|
rs146573874
|
0.00006
|
NM_182914.3(SYNE2):c.19501C>T (p.Pro6501Ser)
|
rs200937358
|
0.00006
|
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=)
|
rs369227827
|
0.00006
|
NM_182961.4(SYNE1):c.12798T>A (p.Ser4266=)
|
rs373438870
|
0.00006
|
NM_182961.4(SYNE1):c.14727G>A (p.Gly4909=)
|
rs767294195
|
0.00006
|
NM_182961.4(SYNE1):c.18213G>A (p.Lys6071=)
|
rs942245024
|
0.00006
|
NM_182961.4(SYNE1):c.2991G>A (p.Leu997=)
|
rs1014746277
|
0.00006
|
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=)
|
rs754584363
|
0.00006
|
NM_194248.3(OTOF):c.2253G>A (p.Thr751=)
|
rs201888333
|
0.00006
|
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys)
|
rs574277214
|
0.00006
|
NM_201384.3(PLEC):c.10178C>T (p.Ala3393Val)
|
rs370079447
|
0.00006
|
NM_201384.3(PLEC):c.10413G>A (p.Thr3471=)
|
rs782728053
|
0.00006
|
NM_201384.3(PLEC):c.10925A>G (p.Tyr3642Cys)
|
rs782531580
|
0.00006
|
NM_201384.3(PLEC):c.1122C>T (p.His374=)
|
rs372270485
|
0.00006
|
NM_201384.3(PLEC):c.11721G>A (p.Thr3907=)
|
rs371520192
|
0.00006
|
NM_201384.3(PLEC):c.11844G>A (p.Ser3948=)
|
rs782025071
|
0.00006
|
NM_201384.3(PLEC):c.13401C>T (p.Ala4467=)
|
rs782114678
|
0.00006
|
NM_201384.3(PLEC):c.3009C>T (p.Thr1003=)
|
rs376276993
|
0.00006
|
NM_201384.3(PLEC):c.3369G>A (p.Pro1123=)
|
rs371882486
|
0.00006
|
NM_201384.3(PLEC):c.4134G>A (p.Ala1378=)
|
rs558224639
|
0.00006
|
NM_201384.3(PLEC):c.4293G>A (p.Ala1431=)
|
rs782198489
|
0.00006
|
NM_201384.3(PLEC):c.4839G>A (p.Arg1613=)
|
rs554561043
|
0.00006
|
NM_201384.3(PLEC):c.5331G>C (p.Glu1777Asp)
|
rs774270631
|
0.00006
|
NM_201384.3(PLEC):c.7485C>T (p.Phe2495=)
|
rs542567139
|
0.00006
|
NM_201384.3(PLEC):c.8799C>T (p.Phe2933=)
|
rs371751910
|
0.00006
|
NM_201525.4(ADGRG1):c.27G>A (p.Thr9=)
|
rs142223451
|
0.00006
|
NM_000038.6(APC):c.2250A>T (p.Pro750=)
|
rs376526724
|
0.00005
|
NM_000051.4(ATM):c.4665C>T (p.Leu1555=)
|
rs374431061
|
0.00005
|
NM_000070.3(CAPN3):c.1263G>A (p.Leu421=)
|
rs372450879
|
0.00005
|
NM_000070.3(CAPN3):c.2109C>T (p.Leu703=)
|
rs371577901
|
0.00005
|
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)
|
rs377278762
|
0.00005
|
NM_000092.5(COL4A4):c.2589C>T (p.Pro863=)
|
rs772517977
|
0.00005
|
NM_000092.5(COL4A4):c.4578C>T (p.Asn1526=)
|
rs202109186
|
0.00005
|
NM_000117.3(EMD):c.355C>A (p.Gln119Lys)
|
rs398123157
|
0.00005
|
NM_000117.3(EMD):c.525C>T (p.Ser175=)
|
rs782367505
|
0.00005
|
NM_000138.5(FBN1):c.4746A>G (p.Thr1582=)
|
rs794727601
|
0.00005
|
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=)
|
rs201226058
|
0.00005
|
NM_000152.5(GAA):c.1075+9T>C
|
rs751918816
|
0.00005
|
NM_000152.5(GAA):c.1425G>A (p.Pro475=)
|
rs753140491
|
0.00005
|
NM_000152.5(GAA):c.1725C>T (p.Tyr575=)
|
rs112517802
|
0.00005
|
NM_000152.5(GAA):c.2418G>A (p.Thr806=)
|
rs371528938
|
0.00005
|
NM_000152.5(GAA):c.249C>T (p.Asp83=)
|
rs377351519
|
0.00005
|
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)
|
rs564434147
|
0.00005
|
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val)
|
rs569192835
|
0.00005
|
NM_000214.3(JAG1):c.204C>T (p.Arg68=)
|
rs565407240
|
0.00005
|
NM_000214.3(JAG1):c.2781C>T (p.Val927=)
|
rs746664646
|
0.00005
|
NM_000214.3(JAG1):c.2927C>T (p.Thr976Met)
|
rs751809412
|
0.00005
|
NM_000214.3(JAG1):c.3038A>T (p.His1013Leu)
|
rs758687380
|
0.00005
|
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=)
|
rs754593633
|
0.00005
|
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met)
|
rs148373907
|
0.00005
|
NM_000235.4(LIPA):c.342C>T (p.Asp114=)
|
rs371133960
|
0.00005
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00005
|
NM_000257.4(MYH7):c.714C>T (p.Asn238=)
|
rs202141819
|
0.00005
|
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln)
|
rs201178011
|
0.00005
|
NM_000260.4(MYO7A):c.5033G>A (p.Arg1678Gln)
|
rs371115266
|
0.00005
|
NM_000260.4(MYO7A):c.5169-6C>T
|
rs768594224
|
0.00005
|
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met)
|
rs145124626
|
0.00005
|
NM_000314.8(PTEN):c.720C>T (p.Tyr240=)
|
rs190070312
|
0.00005
|
NM_000322.5(PRPH2):c.888C>T (p.Pro296=)
|
rs183714869
|
0.00005
|
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser)
|
rs374222196
|
0.00005
|
NM_000368.5(TSC1):c.479G>A (p.Arg160His)
|
rs749979841
|
0.00005
|
NM_000381.4(MID1):c.99C>T (p.Cys33=)
|
rs727504015
|
0.00005
|
NM_000391.4(TPP1):c.6A>T (p.Gly2=)
|
rs747594496
|
0.00005
|
NM_000392.5(ABCC2):c.213C>T (p.Phe71=)
|
rs770824435
|
0.00005
|
NM_000392.5(ABCC2):c.232C>T (p.Leu78=)
|
rs764390911
|
0.00005
|
NM_000392.5(ABCC2):c.2826C>T (p.Asp942=)
|
rs148081784
|
0.00005
|
NM_000426.4(LAMA2):c.5469C>T (p.Ser1823=)
|
rs753886576
|
0.00005
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00005
|
NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=)
|
rs771437431
|
0.00005
|
NM_000443.4(ABCB4):c.438C>T (p.Ile146=)
|
rs776179529
|
0.00005
|
NM_000458.4(HNF1B):c.1654-4G>A
|
rs193922485
|
0.00005
|
NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=)
|
rs142077822
|
0.00005
|
NM_000463.3(UGT1A1):c.477C>T (p.Ile159=)
|
rs199766420
|
0.00005
|
NM_000466.3(PEX1):c.1284C>T (p.Ala428=)
|
rs145153467
|
0.00005
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
NM_000489.6(ATRX):c.7201-4A>G
|
rs782317502
|
0.00005
|
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)
|
rs1800108
|
0.00005
|
NM_000540.3(RYR1):c.9456C>T (p.Phe3152=)
|
rs369206584
|
0.00005
|
NM_000540.3(RYR1):c.9723C>T (p.Pro3241=)
|
rs199828145
|
0.00005
|
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr)
|
rs201811844
|
0.00005
|
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr)
|
rs759837836
|
0.00005
|
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=)
|
rs587780881
|
0.00005
|
NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=)
|
rs767533378
|
0.00005
|
NM_000780.4(CYP7A1):c.1292A>G (p.Lys431Arg)
|
rs151122002
|
0.00005
|
NM_001031710.3(KLHL7):c.1533C>T (p.Val511=)
|
rs886043663
|
0.00005
|
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys)
|
rs559154874
|
0.00005
|
NM_001037.5(SCN1B):c.561C>T (p.Ala187=)
|
rs587781152
|
0.00005
|
NM_001048174.2(MUTYH):c.99G>A (p.Lys33=)
|
rs375084663
|
0.00005
|
NM_001077365.2(POMT1):c.2031C>T (p.Ser677=)
|
rs778418119
|
0.00005
|
NM_001098671.2(RASGRP2):c.1788G>A (p.Glu596=)
|
rs372060305
|
0.00005
|
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met)
|
rs398123617
|
0.00005
|
NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=)
|
rs398123618
|
0.00005
|
NM_001110556.2(FLNA):c.6770-5C>T
|
rs370913359
|
0.00005
|
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys)
|
rs143876280
|
0.00005
|
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=)
|
rs753256966
|
0.00005
|
NM_001126121.2(SLC25A19):c.93G>A (p.Ala31=)
|
rs143765189
|
0.00005
|
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=)
|
rs202216404
|
0.00005
|
NM_001127649.3(PEX26):c.441C>T (p.Asp147=)
|
rs770611373
|
0.00005
|
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)
|
rs200631256
|
0.00005
|
NM_001128225.3(SLC39A13):c.786+6C>T
|
rs779162662
|
0.00005
|
NM_001130438.3(SPTAN1):c.1806+4A>G
|
rs770046688
|
0.00005
|
NM_001130987.2(DYSF):c.1985-4C>G
|
rs374489513
|
0.00005
|
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys)
|
rs180843436
|
0.00005
|
NM_001159699.2(FHL1):c.408C>T (p.Thr136=)
|
rs755900253
|
0.00005
|
NM_001159699.2(FHL1):c.456C>T (p.Ile152=)
|
rs747594885
|
0.00005
|
NM_001159699.2(FHL1):c.53C>T (p.Ala18Val)
|
rs146125558
|
0.00005
|
NM_001164688.2(RD3):c.498C>T (p.Ile166=)
|
rs779584830
|
0.00005
|
NM_001165963.4(SCN1A):c.1499G>A (p.Arg500Gln)
|
rs200176684
|
0.00005
|
NM_001165963.4(SCN1A):c.1582A>T (p.Ser528Cys)
|
rs372372558
|
0.00005
|
NM_001165963.4(SCN1A):c.2057A>C (p.Glu686Ala)
|
rs374767754
|
0.00005
|
NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln)
|
rs150154265
|
0.00005
|
NM_001173990.3(TMEM216):c.*6A>G
|
rs541341560
|
0.00005
|
NM_001177316.2(SLC34A3):c.1164A>G (p.Ala388=)
|
rs762986714
|
0.00005
|
NM_001177316.2(SLC34A3):c.987C>T (p.Ala329=)
|
rs372523225
|
0.00005
|
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=)
|
rs749163517
|
0.00005
|
NM_001199107.2(TBC1D24):c.1525+6C>T
|
rs758013935
|
0.00005
|
NM_001206979.2(NR1H4):c.345C>T (p.Gly115=)
|
rs372358310
|
0.00005
|
NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser)
|
rs766439271
|
0.00005
|
NM_001267550.2(TTN):c.103215C>T (p.Leu34405=)
|
rs748516187
|
0.00005
|
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)
|
rs727504476
|
0.00005
|
NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala)
|
rs771136390
|
0.00005
|
NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala)
|
rs368179478
|
0.00005
|
NM_001267550.2(TTN):c.11440G>A (p.Glu3814Lys)
|
rs375103237
|
0.00005
|
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn)
|
rs147879266
|
0.00005
|
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp)
|
rs150231219
|
0.00005
|
NM_001267550.2(TTN):c.19481T>G (p.Leu6494Arg)
|
rs376857772
|
0.00005
|
NM_001267550.2(TTN):c.19541G>T (p.Trp6514Leu)
|
rs760007747
|
0.00005
|
NM_001267550.2(TTN):c.208G>A (p.Val70Met)
|
rs772248060
|
0.00005
|
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn)
|
rs766935265
|
0.00005
|
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=)
|
rs199576800
|
0.00005
|
NM_001267550.2(TTN):c.2506G>A (p.Gly836Ser)
|
rs751157908
|
0.00005
|
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser)
|
rs369385294
|
0.00005
|
NM_001267550.2(TTN):c.26619C>A (p.Asp8873Glu)
|
rs772596633
|
0.00005
|
NM_001267550.2(TTN):c.27631T>C (p.Leu9211=)
|
rs563954136
|
0.00005
|
NM_001267550.2(TTN):c.28042C>G (p.Gln9348Glu)
|
rs794727987
|
0.00005
|
NM_001267550.2(TTN):c.28175-10C>T
|
rs748478445
|
0.00005
|
NM_001267550.2(TTN):c.28971G>A (p.Ser9657=)
|
rs370903846
|
0.00005
|
NM_001267550.2(TTN):c.29577A>G (p.Gln9859=)
|
rs368780181
|
0.00005
|
NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr)
|
rs201635835
|
0.00005
|
NM_001267550.2(TTN):c.33966G>A (p.Pro11322=)
|
rs373083865
|
0.00005
|
NM_001267550.2(TTN):c.39230T>C (p.Val13077Ala)
|
rs398124449
|
0.00005
|
NM_001267550.2(TTN):c.41812A>G (p.Met13938Val)
|
rs201725483
|
0.00005
|
NM_001267550.2(TTN):c.43161G>A (p.Glu14387=)
|
rs765214404
|
0.00005
|
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe)
|
rs371299188
|
0.00005
|
NM_001267550.2(TTN):c.47129G>A (p.Arg15710His)
|
rs185689179
|
0.00005
|
NM_001267550.2(TTN):c.4990C>T (p.Arg1664Trp)
|
rs147695336
|
0.00005
|
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=)
|
rs374672630
|
0.00005
|
NM_001267550.2(TTN):c.5255G>A (p.Arg1752His)
|
rs150737838
|
0.00005
|
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile)
|
rs190574498
|
0.00005
|
NM_001267550.2(TTN):c.54381+6C>G
|
rs368265962
|
0.00005
|
NM_001267550.2(TTN):c.54811+10C>T
|
rs796651993
|
0.00005
|
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His)
|
rs771284532
|
0.00005
|
NM_001267550.2(TTN):c.56535G>A (p.Thr18845=)
|
rs529480368
|
0.00005
|
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=)
|
rs370619063
|
0.00005
|
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)
|
rs377000174
|
0.00005
|
NM_001267550.2(TTN):c.57682C>T (p.Arg19228Cys)
|
rs757820671
|
0.00005
|
NM_001267550.2(TTN):c.58841T>C (p.Ile19614Thr)
|
rs199933004
|
0.00005
|
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly)
|
rs755949982
|
0.00005
|
NM_001267550.2(TTN):c.64734C>T (p.Ser21578=)
|
rs773855604
|
0.00005
|
NM_001267550.2(TTN):c.66386G>A (p.Arg22129His)
|
rs187257105
|
0.00005
|
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn)
|
rs727503577
|
0.00005
|
NM_001267550.2(TTN):c.67637-4A>G
|
rs376053678
|
0.00005
|
NM_001267550.2(TTN):c.70743C>T (p.His23581=)
|
rs375194057
|
0.00005
|
NM_001267550.2(TTN):c.70864G>A (p.Val23622Ile)
|
rs72646892
|
0.00005
|
NM_001267550.2(TTN):c.72167G>A (p.Arg24056His)
|
rs398124455
|
0.00005
|
NM_001267550.2(TTN):c.73914G>A (p.Glu24638=)
|
rs376382707
|
0.00005
|
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=)
|
rs565784637
|
0.00005
|
NM_001267550.2(TTN):c.73937G>A (p.Ser24646Asn)
|
rs370902028
|
0.00005
|
NM_001267550.2(TTN):c.74582C>T (p.Ala24861Val)
|
rs149232991
|
0.00005
|
NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr)
|
rs199514898
|
0.00005
|
NM_001267550.2(TTN):c.77907C>T (p.Asn25969=)
|
rs375903820
|
0.00005
|
NM_001267550.2(TTN):c.78039A>C (p.Glu26013Asp)
|
rs755117644
|
0.00005
|
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=)
|
rs748292845
|
0.00005
|
NM_001267550.2(TTN):c.80720C>A (p.Pro26907Gln)
|
rs375693686
|
0.00005
|
NM_001267550.2(TTN):c.81737T>C (p.Ile27246Thr)
|
rs367603381
|
0.00005
|
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)
|
rs376037252
|
0.00005
|
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=)
|
rs727504793
|
0.00005
|
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=)
|
rs375565646
|
0.00005
|
NM_001267550.2(TTN):c.89520C>T (p.Asp29840=)
|
rs746569192
|
0.00005
|
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp)
|
rs747181293
|
0.00005
|
NM_001267550.2(TTN):c.92058C>T (p.Asn30686=)
|
rs545632095
|
0.00005
|
NM_001267550.2(TTN):c.93917T>C (p.Ile31306Thr)
|
rs555405542
|
0.00005
|
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His)
|
rs368786036
|
0.00005
|
NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser)
|
rs886042885
|
0.00005
|
NM_001267550.2(TTN):c.95130C>A (p.Gly31710=)
|
rs727504857
|
0.00005
|
NM_001267550.2(TTN):c.95541T>G (p.Arg31847=)
|
rs749477738
|
0.00005
|
NM_001267550.2(TTN):c.97156G>A (p.Gly32386Arg)
|
rs758534800
|
0.00005
|
NM_001267550.2(TTN):c.97472T>C (p.Ile32491Thr)
|
rs781572378
|
0.00005
|
NM_001267550.2(TTN):c.98606G>A (p.Arg32869His)
|
rs587780495
|
0.00005
|
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln)
|
rs371531675
|
0.00005
|
NM_001277115.2(DNAH11):c.5622-7C>A
|
rs727503901
|
0.00005
|
NM_001278116.2(L1CAM):c.2872+9G>A
|
rs398123363
|
0.00005
|
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr)
|
rs777809121
|
0.00005
|
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)
|
rs756986206
|
0.00005
|
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser)
|
rs748459878
|
0.00005
|
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=)
|
rs369377144
|
0.00005
|
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=)
|
rs140332992
|
0.00005
|
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His)
|
rs199960045
|
0.00005
|
NM_001360.3(DHCR7):c.522C>T (p.Phe174=)
|
rs140648594
|
0.00005
|
NM_001360.3(DHCR7):c.69C>T (p.Thr23=)
|
rs199798127
|
0.00005
|
NM_001360016.2(G6PD):c.1329C>T (p.Asp443=)
|
rs138919671
|
0.00005
|
NM_001365536.1(SCN9A):c.1975-8T>A
|
rs752961542
|
0.00005
|
NM_001367721.1(CASK):c.1669-8C>G
|
rs201327474
|
0.00005
|
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys)
|
rs200076785
|
0.00005
|
NM_001374353.1(GLI2):c.4241C>T (p.Pro1414Leu)
|
rs749402521
|
0.00005
|
NM_001374385.1(ATP8B1):c.1620T>C (p.Asp540=)
|
rs201514636
|
0.00005
|
NM_001374385.1(ATP8B1):c.2521A>C (p.Arg841=)
|
rs149156534
|
0.00005
|
NM_001374385.1(ATP8B1):c.276T>C (p.Tyr92=)
|
rs749127600
|
0.00005
|
NM_001378414.1(HDAC4):c.1434C>T (p.Asn478=)
|
rs754530774
|
0.00005
|
NM_001379286.1(ZNF423):c.1176G>A (p.Pro392=)
|
rs748728165
|
0.00005
|
NM_001429.4(EP300):c.2419A>G (p.Ile807Val)
|
rs201054979
|
0.00005
|
NM_001457.4(FLNB):c.2965G>A (p.Val989Met)
|
rs76471260
|
0.00005
|
NM_001457.4(FLNB):c.6003C>T (p.Asp2001=)
|
rs184065600
|
0.00005
|
NM_001793.6(CDH3):c.1011G>C (p.Val337=)
|
rs201726457
|
0.00005
|
NM_001848.3(COL6A1):c.2709C>T (p.Ala903=)
|
rs139018148
|
0.00005
|
NM_001849.4(COL6A2):c.2205C>T (p.His735=)
|
rs755147431
|
0.00005
|
NM_001849.4(COL6A2):c.2565C>T (p.Phe855=)
|
rs774805224
|
0.00005
|
NM_001849.4(COL6A2):c.648C>T (p.Tyr216=)
|
rs150004111
|
0.00005
|
NM_001854.4(COL11A1):c.3984A>G (p.Gln1328=)
|
rs767276283
|
0.00005
|
NM_001966.4(EHHADH):c.855C>T (p.Ser285=)
|
rs752275123
|
0.00005
|
NM_002047.4(GARS1):c.1857C>T (p.Leu619=)
|
rs183573304
|
0.00005
|
NM_002109.6(HARS1):c.694C>T (p.Arg232Cys)
|
rs186526524
|
0.00005
|
NM_002180.3(IGHMBP2):c.2643G>A (p.Glu881=)
|
rs374950193
|
0.00005
|
NM_002473.6(MYH9):c.5151-4G>A
|
rs368125656
|
0.00005
|
NM_002547.3(OPHN1):c.702+8T>C
|
rs369382527
|
0.00005
|
NM_002693.3(POLG):c.1850G>A (p.Arg617His)
|
rs779961986
|
0.00005
|
NM_002693.3(POLG):c.2880C>T (p.Pro960=)
|
rs752500492
|
0.00005
|
NM_002693.3(POLG):c.3450C>T (p.Ala1150=)
|
rs774880085
|
0.00005
|
NM_002979.5(SCP2):c.1632C>T (p.Asn544=)
|
rs143534838
|
0.00005
|
NM_003482.4(KMT2D):c.14474G>A (p.Arg4825Gln)
|
rs758494772
|
0.00005
|
NM_003491.4(NAA10):c.201G>C (p.Val67=)
|
rs375971315
|
0.00005
|
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)
|
rs375310569
|
0.00005
|
NM_003742.4(ABCB11):c.280G>A (p.Asp94Asn)
|
rs760920706
|
0.00005
|
NM_004006.3(DMD):c.145C>T (p.Arg49Cys)
|
rs147548697
|
0.00005
|
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys)
|
rs145739725
|
0.00005
|
NM_004006.3(DMD):c.2245A>G (p.Ile749Val)
|
rs771803281
|
0.00005
|
NM_004006.3(DMD):c.3269A>T (p.Gln1090Leu)
|
rs747239076
|
0.00005
|
NM_004006.3(DMD):c.3375G>A (p.Ser1125=)
|
rs191164314
|
0.00005
|
NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe)
|
rs377156960
|
0.00005
|
NM_004006.3(DMD):c.3959C>G (p.Pro1320Arg)
|
rs766977775
|
0.00005
|
NM_004006.3(DMD):c.434G>A (p.Arg145Gln)
|
rs398123952
|
0.00005
|
NM_004006.3(DMD):c.501G>T (p.Leu167=)
|
rs150239235
|
0.00005
|
NM_004006.3(DMD):c.6452G>A (p.Gly2151Asp)
|
rs727503815
|
0.00005
|
NM_004006.3(DMD):c.7187C>T (p.Thr2396Ile)
|
rs1057519106
|
0.00005
|
NM_004006.3(DMD):c.7914T>C (p.Asp2638=)
|
rs754997935
|
0.00005
|
NM_004006.3(DMD):c.8322G>A (p.Leu2774=)
|
rs72466575
|
0.00005
|
NM_004006.3(DMD):c.8886C>T (p.Pro2962=)
|
rs371648038
|
0.00005
|
NM_004006.3(DMD):c.923C>A (p.Thr308Asn)
|
rs145064612
|
0.00005
|
NM_004369.4(COL6A3):c.2994G>A (p.Ser998=)
|
rs768233315
|
0.00005
|
NM_004369.4(COL6A3):c.3555C>T (p.Ala1185=)
|
rs373719229
|
0.00005
|
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp)
|
rs150430813
|
0.00005
|
NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=)
|
rs758582935
|
0.00005
|
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)
|
rs147805823
|
0.00005
|
NM_004380.3(CREBBP):c.3060+10G>A
|
rs398124143
|
0.00005
|
NM_004463.3(FGD1):c.2047-5C>A
|
rs368646447
|
0.00005
|
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser)
|
rs118192252
|
0.00005
|
NM_004560.4(ROR2):c.822C>T (p.Asn274=)
|
rs140557090
|
0.00005
|
NM_004817.4(TJP2):c.2034C>T (p.Asn678=)
|
rs373160031
|
0.00005
|
NM_004820.5(CYP7B1):c.1036T>C (p.Leu346=)
|
rs535728519
|
0.00005
|
NM_004836.7(EIF2AK3):c.744C>T (p.Val248=)
|
rs147298435
|
0.00005
|
NM_005120.3(MED12):c.3797G>A (p.Arg1266His)
|
rs587780391
|
0.00005
|
NM_005120.3(MED12):c.4971T>C (p.Leu1657=)
|
rs398124198
|
0.00005
|
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)
|
rs377119288
|
0.00005
|
NM_005422.4(TECTA):c.2088C>T (p.Cys696=)
|
rs368288093
|
0.00005
|
NM_005422.4(TECTA):c.2288C>T (p.Pro763Leu)
|
rs151296951
|
0.00005
|
NM_005422.4(TECTA):c.811G>C (p.Glu271Gln)
|
rs555093382
|
0.00005
|
NM_005529.7(HSPG2):c.13098C>T (p.Pro4366=)
|
rs759562639
|
0.00005
|
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=)
|
rs773662857
|
0.00005
|
NM_005633.4(SOS1):c.3387C>T (p.Gly1129=)
|
rs772823827
|
0.00005
|
NM_006005.3(WFS1):c.2181C>T (p.Ile727=)
|
rs140286718
|
0.00005
|
NM_006031.6(PCNT):c.3441C>T (p.Asp1147=)
|
rs201652457
|
0.00005
|
NM_006031.6(PCNT):c.7180-7G>A
|
rs201549624
|
0.00005
|
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val)
|
rs769943554
|
0.00005
|
NM_006790.3(MYOT):c.1335C>T (p.Asn445=)
|
rs769506328
|
0.00005
|
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp)
|
rs755595060
|
0.00005
|
NM_012210.4(TRIM32):c.1458C>T (p.Thr486=)
|
rs141965401
|
0.00005
|
NM_012210.4(TRIM32):c.693A>C (p.Ala231=)
|
rs368455215
|
0.00005
|
NM_012470.4(TNPO3):c.2274-5A>G
|
rs567711266
|
0.00005
|
NM_014141.6(CNTNAP2):c.237C>T (p.Ser79=)
|
rs145162968
|
0.00005
|
NM_014141.6(CNTNAP2):c.3180G>A (p.Ala1060=)
|
rs372645983
|
0.00005
|
NM_014251.3(SLC25A13):c.960A>G (p.Pro320=)
|
rs765358773
|
0.00005
|
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln)
|
rs749599838
|
0.00005
|
NM_014780.5(CUL7):c.4146T>C (p.Tyr1382=)
|
rs760451045
|
0.00005
|
NM_015102.5(NPHP4):c.-8C>T
|
rs375807896
|
0.00005
|
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp)
|
rs367686843
|
0.00005
|
NM_015102.5(NPHP4):c.1851C>T (p.Ala617=)
|
rs201192584
|
0.00005
|
NM_016239.4(MYO15A):c.6623C>T (p.Pro2208Leu)
|
rs376939609
|
0.00005
|
NM_016247.4(IMPG2):c.1794C>T (p.Asp598=)
|
rs371805004
|
0.00005
|
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn)
|
rs41272440
|
0.00005
|
NM_017780.4(CHD7):c.5275A>C (p.Lys1759Gln)
|
rs371988345
|
0.00005
|
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=)
|
rs188188906
|
0.00005
|
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=)
|
rs756879923
|
0.00005
|
NM_018668.5(VPS33B):c.1749C>T (p.Ala583=)
|
rs201436915
|
0.00005
|
NM_020297.4(ABCC9):c.4512+777G>A
|
rs542730918
|
0.00005
|
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=)
|
rs764574987
|
0.00005
|
NM_020822.3(KCNT1):c.408C>T (p.Leu136=)
|
rs370046449
|
0.00005
|
NM_020822.3(KCNT1):c.981G>A (p.Ser327=)
|
rs373317695
|
0.00005
|
NM_021939.4(FKBP10):c.1269G>A (p.Gly423=)
|
rs371540139
|
0.00005
|
NM_022081.6(HPS4):c.1857G>A (p.Pro619=)
|
rs373421312
|
0.00005
|
NM_022124.6(CDH23):c.330C>T (p.His110=)
|
rs201232514
|
0.00005
|
NM_022437.3(ABCG8):c.1353C>T (p.Leu451=)
|
rs373560827
|
0.00005
|
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp)
|
rs142657029
|
0.00005
|
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr)
|
rs142023792
|
0.00005
|
NM_022455.5(NSD1):c.4303-4A>G
|
rs775759198
|
0.00005
|
NM_024301.5(FKRP):c.1236C>T (p.His412=)
|
rs201076863
|
0.00005
|
NM_024408.4(NOTCH2):c.6140G>A (p.Arg2047Gln)
|
rs371060516
|
0.00005
|
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala)
|
rs587778578
|
0.00005
|
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=)
|
rs772286870
|
0.00005
|
NM_031220.4(PITPNM3):c.747G>A (p.Lys249=)
|
rs371282530
|
0.00005
|
NM_032119.4(ADGRV1):c.11253C>T (p.Tyr3751=)
|
rs376689763
|
0.00005
|
NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile)
|
rs200943280
|
0.00005
|
NM_032119.4(ADGRV1):c.12778G>T (p.Val4260Leu)
|
rs773072116
|
0.00005
|
NM_032119.4(ADGRV1):c.14970C>A (p.Leu4990=)
|
rs368420512
|
0.00005
|
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp)
|
rs376505416
|
0.00005
|
NM_032119.4(ADGRV1):c.17187C>T (p.Cys5729=)
|
rs371639191
|
0.00005
|
NM_032119.4(ADGRV1):c.18144T>C (p.His6048=)
|
rs188017433
|
0.00005
|
NM_032119.4(ADGRV1):c.6338A>G (p.Asn2113Ser)
|
rs201579557
|
0.00005
|
NM_032119.4(ADGRV1):c.6859G>A (p.Val2287Ile)
|
rs868801998
|
0.00005
|
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe)
|
rs376318779
|
0.00005
|
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp)
|
rs370966667
|
0.00005
|
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=)
|
rs752509045
|
0.00005
|
NM_139343.3(BIN1):c.924C>T (p.Pro308=)
|
rs367611371
|
0.00005
|
NM_144639.3(UROC1):c.970C>T (p.Arg324Cys)
|
rs377309471
|
0.00005
|
NM_145200.5(CABP4):c.187G>A (p.Gly63Ser)
|
rs767502632
|
0.00005
|
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=)
|
rs775883776
|
0.00005
|
NM_170699.3(GPBAR1):c.857G>A (p.Arg286His)
|
rs201573186
|
0.00005
|
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)
|
rs375516745
|
0.00005
|
NM_172364.5(CACNA2D4):c.2054+4A>T
|
rs200648405
|
0.00005
|
NM_181332.3(NLGN4X):c.999G>A (p.Pro333=)
|
rs398124367
|
0.00005
|
NM_182914.3(SYNE2):c.3885C>T (p.His1295=)
|
rs570341792
|
0.00005
|
NM_182961.4(SYNE1):c.11702G>C (p.Ser3901Thr)
|
rs376327805
|
0.00005
|
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met)
|
rs143674856
|
0.00005
|
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp)
|
rs774530840
|
0.00005
|
NM_198525.3(KIF7):c.3795G>A (p.Thr1265=)
|
rs148749994
|
0.00005
|
NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp)
|
rs542488020
|
0.00005
|
NM_201384.3(PLEC):c.12978C>T (p.Thr4326=)
|
rs781832846
|
0.00005
|
NM_201384.3(PLEC):c.13449C>T (p.Ser4483=)
|
rs782187551
|
0.00005
|
NM_201384.3(PLEC):c.3873G>A (p.Ala1291=)
|
rs374669316
|
0.00005
|
NM_201384.3(PLEC):c.4218G>A (p.Glu1406=)
|
rs782584192
|
0.00005
|
NM_201384.3(PLEC):c.6168C>T (p.Phe2056=)
|
rs370313601
|
0.00005
|
NM_201384.3(PLEC):c.9023G>A (p.Arg3008Gln)
|
rs200176579
|
0.00005
|
NM_201384.3(PLEC):c.9528C>T (p.Ala3176=)
|
rs368317567
|
0.00005
|
NM_206933.4(USH2A):c.14073C>T (p.Asn4691=)
|
rs370364142
|
0.00005
|
NM_206933.4(USH2A):c.14760C>T (p.Ser4920=)
|
rs778669346
|
0.00005
|
NM_207361.6(FREM2):c.6807G>A (p.Ser2269=)
|
rs752080876
|
0.00005
|
NM_000023.4(SGCA):c.270C>T (p.Tyr90=)
|
rs749205073
|
0.00004
|
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)
|
rs368080169
|
0.00004
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu)
|
rs201427280
|
0.00004
|
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg)
|
rs55833327
|
0.00004
|
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)
|
rs80358531
|
0.00004
|
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile)
|
rs80358853
|
0.00004
|
NM_000070.3(CAPN3):c.1557C>T (p.His519=)
|
rs368385372
|
0.00004
|
NM_000070.3(CAPN3):c.183C>T (p.Phe61=)
|
rs146069933
|
0.00004
|
NM_000088.4(COL1A1):c.299-9G>T
|
rs373041336
|
0.00004
|
NM_000117.3(EMD):c.171C>T (p.Ser57=)
|
rs900267221
|
0.00004
|
NM_000152.5(GAA):c.1416C>T (p.Thr472=)
|
rs368492669
|
0.00004
|
NM_000152.5(GAA):c.1629C>T (p.Tyr543=)
|
rs372193105
|
0.00004
|
NM_000152.5(GAA):c.2656G>A (p.Val886Met)
|
rs372802420
|
0.00004
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)
|
rs104894833
|
0.00004
|
NM_000169.3(GLA):c.714T>C (p.Ser238=)
|
rs397515872
|
0.00004
|
NM_000179.3(MSH6):c.2418C>T (p.Ser806=)
|
rs770992427
|
0.00004
|
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=)
|
rs542831744
|
0.00004
|
NM_000231.3(SGCG):c.414A>G (p.Gln138=)
|
rs770596449
|
0.00004
|
NM_000235.4(LIPA):c.714G>A (p.Ala238=)
|
rs139282720
|
0.00004
|
NM_000260.4(MYO7A):c.3729G>A (p.Pro1243=)
|
rs727504023
|
0.00004
|
NM_000288.4(PEX7):c.576C>T (p.Ile192=)
|
rs776411851
|
0.00004
|
NM_000295.5(SERPINA1):c.1065+6A>T
|
rs79078626
|
0.00004
|
NM_000295.5(SERPINA1):c.381C>T (p.Leu127=)
|
rs372438611
|
0.00004
|
NM_000307.5(POU3F4):c.588G>C (p.Gln196His)
|
rs770776910
|
0.00004
|
NM_000316.3(PTH1R):c.645G>T (p.Leu215=)
|
rs201490454
|
0.00004
|
NM_000335.5(SCN5A):c.435C>T (p.Cys145=)
|
rs587781159
|
0.00004
|
NM_000337.6(SGCD):c.756G>A (p.Thr252=)
|
rs756467431
|
0.00004
|
NM_000346.4(SOX9):c.918G>A (p.Val306=)
|
rs367966473
|
0.00004
|
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met)
|
rs74516571
|
0.00004
|
NM_000368.5(TSC1):c.2115G>A (p.Glu705=)
|
rs142662480
|
0.00004
|
NM_000388.4(CASR):c.60C>T (p.Tyr20=)
|
rs201564143
|
0.00004
|
NM_000393.5(COL5A2):c.870T>C (p.Pro290=)
|
rs139656817
|
0.00004
|
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)
|
rs200347945
|
0.00004
|
NM_000440.3(PDE6A):c.251A>T (p.Lys84Met)
|
rs771965437
|
0.00004
|
NM_000443.4(ABCB4):c.1356+10A>G
|
rs374723850
|
0.00004
|
NM_000452.3(SLC10A2):c.846G>A (p.Glu282=)
|
rs746750365
|
0.00004
|
NM_000458.4(HNF1B):c.1008C>T (p.His336=)
|
rs150268130
|
0.00004
|
NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=)
|
rs780554506
|
0.00004
|
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly)
|
rs184095519
|
0.00004
|
NM_000492.4(CFTR):c.1227T>C (p.Phe409=)
|
rs778548877
|
0.00004
|
NM_000492.4(CFTR):c.393T>C (p.Phe131=)
|
rs1039221071
|
0.00004
|
NM_000516.7(GNAS):c.108C>T (p.Val36=)
|
rs146581290
|
0.00004
|
NM_000539.3(RHO):c.362-10T>C
|
rs568571580
|
0.00004
|
NM_000540.3(RYR1):c.10917G>A (p.Thr3639=)
|
rs371952058
|
0.00004
|
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys)
|
rs752192756
|
0.00004
|
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu)
|
rs759317223
|
0.00004
|
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn)
|
rs566495420
|
0.00004
|
NM_000540.3(RYR1):c.9354G>A (p.Ala3118=)
|
rs146408926
|
0.00004
|
NM_000543.5(SMPD1):c.39C>T (p.Pro13=)
|
rs775473869
|
0.00004
|
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=)
|
rs398123517
|
0.00004
|
NM_000726.5(CACNB4):c.36G>A (p.Ala12=)
|
rs754380009
|
0.00004
|
NM_000780.4(CYP7A1):c.1409T>C (p.Ile470Thr)
|
rs779269724
|
0.00004
|
NM_000780.4(CYP7A1):c.318G>A (p.Ala106=)
|
rs200839929
|
0.00004
|
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=)
|
rs748616891
|
0.00004
|
NM_000883.4(IMPDH1):c.1623C>T (p.Phe541=)
|
rs749416988
|
0.00004
|
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=)
|
rs727504098
|
0.00004
|
NM_001005242.3(PKP2):c.789G>A (p.Thr263=)
|
rs760432217
|
0.00004
|
NM_001035.3(RYR2):c.4160+7A>G
|
rs377465289
|
0.00004
|
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)
|
rs770863319
|
0.00004
|
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=)
|
rs587781156
|
0.00004
|
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=)
|
rs187731029
|
0.00004
|
NM_001048166.1(STIL):c.1227T>C (p.Ser409=)
|
rs200532713
|
0.00004
|
NM_001077365.2(POMT1):c.2003+9G>A
|
rs368975092
|
0.00004
|
NM_001077365.2(POMT1):c.310C>T (p.Leu104=)
|
rs146982282
|
0.00004
|
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn)
|
rs146272618
|
0.00004
|
NM_001083961.2(WDR62):c.1977C>T (p.Asn659=)
|
rs79238222
|
0.00004
|
NM_001105206.3(LAMA4):c.3165C>T (p.Ser1055=)
|
rs782303510
|
0.00004
|
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His)
|
rs782563602
|
0.00004
|
NM_001110556.2(FLNA):c.3216G>A (p.Ala1072=)
|
rs782006734
|
0.00004
|
NM_001110556.2(FLNA):c.5218-4G>A
|
rs370196495
|
0.00004
|
NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=)
|
rs794726872
|
0.00004
|
NM_001127222.2(CACNA1A):c.1233G>A (p.Gly411=)
|
rs764453012
|
0.00004
|
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=)
|
rs188863534
|
0.00004
|
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)
|
rs780427871
|
0.00004
|
NM_001128225.3(SLC39A13):c.222T>A (p.Gly74=)
|
rs753665968
|
0.00004
|
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=)
|
rs553605812
|
0.00004
|
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=)
|
rs373328706
|
0.00004
|
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=)
|
rs769289729
|
0.00004
|
NM_001145358.2(SIN3A):c.621G>A (p.Gln207=)
|
rs372433846
|
0.00004
|
NM_001148.6(ANK2):c.1773T>C (p.Ser591=)
|
rs374775005
|
0.00004
|
NM_001164508.2(NEB):c.7582G>A (p.Asp2528Asn)
|
rs369496057
|
0.00004
|
NM_001177316.2(SLC34A3):c.882G>A (p.Pro294=)
|
rs370122685
|
0.00004
|
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=)
|
rs200394848
|
0.00004
|
NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=)
|
rs137962077
|
0.00004
|
NM_001191061.2(SLC25A22):c.726C>T (p.Ala242=)
|
rs771026197
|
0.00004
|
NM_001193315.2(VIPAS39):c.632-9G>A
|
rs370850533
|
0.00004
|
NM_001199107.2(TBC1D24):c.606G>A (p.Ser202=)
|
rs61731478
|
0.00004
|
NM_001200.4(BMP2):c.370A>G (p.Thr124Ala)
|
rs201118225
|
0.00004
|
NM_001206979.2(NR1H4):c.302C>T (p.Thr101Ile)
|
rs200146597
|
0.00004
|
NM_001206979.2(NR1H4):c.963T>C (p.Ile321=)
|
rs757460153
|
0.00004
|
NM_001267550.2(TTN):c.100384G>A (p.Glu33462Lys)
|
rs748104690
|
0.00004
|
NM_001267550.2(TTN):c.101037G>A (p.Gln33679=)
|
rs377190399
|
0.00004
|
NM_001267550.2(TTN):c.104581C>T (p.Arg34861Cys)
|
rs398124463
|
0.00004
|
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met)
|
rs368945564
|
0.00004
|
NM_001267550.2(TTN):c.105261G>A (p.Thr35087=)
|
rs556741970
|
0.00004
|
NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile)
|
rs754459138
|
0.00004
|
NM_001267550.2(TTN):c.107254C>T (p.Arg35752Cys)
|
rs528535076
|
0.00004
|
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=)
|
rs727503660
|
0.00004
|
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met)
|
rs201046911
|
0.00004
|
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr)
|
rs34337578
|
0.00004
|
NM_001267550.2(TTN):c.15822A>T (p.Ala5274=)
|
rs779456916
|
0.00004
|
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=)
|
rs376820575
|
0.00004
|
NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn)
|
rs794727755
|
0.00004
|
NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro)
|
rs776790387
|
0.00004
|
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys)
|
rs72648948
|
0.00004
|
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=)
|
rs372654116
|
0.00004
|
NM_001267550.2(TTN):c.21906C>T (p.Cys7302=)
|
rs370548693
|
0.00004
|
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu)
|
rs200061856
|
0.00004
|
NM_001267550.2(TTN):c.23067C>T (p.Asp7689=)
|
rs191854953
|
0.00004
|
NM_001267550.2(TTN):c.23444G>A (p.Arg7815Gln)
|
rs372804810
|
0.00004
|
NM_001267550.2(TTN):c.2422C>T (p.Arg808Cys)
|
rs149155733
|
0.00004
|
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys)
|
rs371156190
|
0.00004
|
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)
|
rs375266859
|
0.00004
|
NM_001267550.2(TTN):c.3030C>T (p.Ser1010=)
|
rs374346637
|
0.00004
|
NM_001267550.2(TTN):c.31518C>T (p.Pro10506=)
|
rs746912694
|
0.00004
|
NM_001267550.2(TTN):c.33419-9T>C
|
rs1030703466
|
0.00004
|
NM_001267550.2(TTN):c.34734A>G (p.Val11578=)
|
rs866407525
|
0.00004
|
NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val)
|
rs755562550
|
0.00004
|
NM_001267550.2(TTN):c.3680A>G (p.Lys1227Arg)
|
rs541811273
|
0.00004
|
NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu)
|
rs72650062
|
0.00004
|
NM_001267550.2(TTN):c.40557C>T (p.Ser13519=)
|
rs371178429
|
0.00004
|
NM_001267550.2(TTN):c.41920G>A (p.Val13974Ile)
|
rs373881831
|
0.00004
|
NM_001267550.2(TTN):c.42672G>T (p.Leu14224=)
|
rs368155350
|
0.00004
|
NM_001267550.2(TTN):c.42873G>A (p.Ala14291=)
|
rs370216450
|
0.00004
|
NM_001267550.2(TTN):c.44223G>A (p.Thr14741=)
|
rs368830196
|
0.00004
|
NM_001267550.2(TTN):c.44418C>T (p.Ser14806=)
|
rs368005198
|
0.00004
|
NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe)
|
rs72677226
|
0.00004
|
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn)
|
rs370813526
|
0.00004
|
NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys)
|
rs780334981
|
0.00004
|
NM_001267550.2(TTN):c.47217C>T (p.Gly15739=)
|
rs373305832
|
0.00004
|
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His)
|
rs397517593
|
0.00004
|
NM_001267550.2(TTN):c.48571A>G (p.Ile16191Val)
|
rs747433688
|
0.00004
|
NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys)
|
rs748917057
|
0.00004
|
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)
|
rs376188859
|
0.00004
|
NM_001267550.2(TTN):c.51249C>A (p.Val17083=)
|
rs377342233
|
0.00004
|
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser)
|
rs201904897
|
0.00004
|
NM_001267550.2(TTN):c.54360T>C (p.Thr18120=)
|
rs749248039
|
0.00004
|
NM_001267550.2(TTN):c.54477C>G (p.Val18159=)
|
rs374335905
|
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.58008T>C (p.Asn19336=)
|
rs770525693
|
0.00004
|
NM_001267550.2(TTN):c.597A>G (p.Val199=)
|
rs144214844
|
0.00004
|
NM_001267550.2(TTN):c.6008G>A (p.Arg2003His)
|
rs753167856
|
0.00004
|
NM_001267550.2(TTN):c.60786T>C (p.Pro20262=)
|
rs1217782958
|
0.00004
|
NM_001267550.2(TTN):c.61481T>C (p.Ile20494Thr)
|
rs374845737
|
0.00004
|
NM_001267550.2(TTN):c.62097A>G (p.Pro20699=)
|
rs774995592
|
0.00004
|
NM_001267550.2(TTN):c.62547G>A (p.Thr20849=)
|
rs368969893
|
0.00004
|
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys)
|
rs374727686
|
0.00004
|
NM_001267550.2(TTN):c.64101G>A (p.Pro21367=)
|
rs397517657
|
0.00004
|
NM_001267550.2(TTN):c.65047C>A (p.Pro21683Thr)
|
rs528707403
|
0.00004
|
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile)
|
rs368716894
|
0.00004
|
NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe)
|
rs374736305
|
0.00004
|
NM_001267550.2(TTN):c.72114G>A (p.Thr24038=)
|
rs768064912
|
0.00004
|
NM_001267550.2(TTN):c.73935C>A (p.Gly24645=)
|
rs375726644
|
0.00004
|
NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala)
|
rs200723435
|
0.00004
|
NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile)
|
rs370070176
|
0.00004
|
NM_001267550.2(TTN):c.77268A>G (p.Ala25756=)
|
rs376372388
|
0.00004
|
NM_001267550.2(TTN):c.78383G>A (p.Arg26128His)
|
rs757957389
|
0.00004
|
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=)
|
rs368270588
|
0.00004
|
NM_001267550.2(TTN):c.81147T>C (p.Ala27049=)
|
rs765706611
|
0.00004
|
NM_001267550.2(TTN):c.8640G>A (p.Glu2880=)
|
rs879222360
|
0.00004
|
NM_001267550.2(TTN):c.86538A>T (p.Pro28846=)
|
rs747423090
|
0.00004
|
NM_001267550.2(TTN):c.86910C>T (p.Gly28970=)
|
rs397517736
|
0.00004
|
NM_001267550.2(TTN):c.87495C>T (p.Asp29165=)
|
rs371763584
|
0.00004
|
NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys)
|
rs372360369
|
0.00004
|
NM_001267550.2(TTN):c.90237C>T (p.His30079=)
|
rs756663688
|
0.00004
|
NM_001267550.2(TTN):c.90786C>T (p.Ile30262=)
|
rs727504439
|
0.00004
|
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=)
|
rs886044458
|
0.00004
|
NM_001267550.2(TTN):c.93972A>G (p.Glu31324=)
|
rs727504528
|
0.00004
|
NM_001267550.2(TTN):c.9402C>T (p.Asn3134=)
|
rs587780987
|
0.00004
|
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His)
|
rs727503545
|
0.00004
|
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)
|
rs375640847
|
0.00004
|
NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly)
|
rs377049518
|
0.00004
|
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)
|
rs367979582
|
0.00004
|
NM_001286577.2(C2CD3):c.3929T>C (p.Ile1310Thr)
|
rs757220593
|
0.00004
|
NM_001297.5(CNGB1):c.291-5C>T
|
rs372308762
|
0.00004
|
NM_001330078.2(NRXN1):c.3403A>G (p.Ile1135Val)
|
rs765360600
|
0.00004
|
NM_001330260.2(SCN8A):c.402T>C (p.Phe134=)
|
rs559668426
|
0.00004
|
NM_001349338.3(FOXP1):c.1383C>T (p.Asn461=)
|
rs372403441
|
0.00004
|
NM_001353214.3(DYM):c.1344A>G (p.Gln448=)
|
rs77902523
|
0.00004
|
NM_001369268.1(ACAN):c.1527G>A (p.Ser509=)
|
rs371049725
|
0.00004
|
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)
|
rs774052068
|
0.00004
|
NM_001374353.1(GLI2):c.606C>T (p.Ser202=)
|
rs146181686
|
0.00004
|
NM_001374385.1(ATP8B1):c.1659C>T (p.Pro553=)
|
rs761202112
|
0.00004
|
NM_001374385.1(ATP8B1):c.1754A>G (p.Glu585Gly)
|
rs35238397
|
0.00004
|
NM_001374385.1(ATP8B1):c.3201C>T (p.Ser1067=)
|
rs777459332
|
0.00004
|
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr)
|
rs199530726
|
0.00004
|
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val)
|
rs568826753
|
0.00004
|
NM_001378120.1(MBD5):c.980T>C (p.Met327Thr)
|
rs776228346
|
0.00004
|
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=)
|
rs750087396
|
0.00004
|
NM_001378615.1(CC2D2A):c.3501C>T (p.Asp1167=)
|
rs779304750
|
0.00004
|
NM_001379081.2(FREM1):c.3932T>C (p.Ile1311Thr)
|
rs182527895
|
0.00004
|
NM_001379110.1(SLC9A6):c.2021C>T (p.Thr674Met)
|
rs886044780
|
0.00004
|
NM_001384140.1(PCDH15):c.3717+10T>C
|
rs376158566
|
0.00004
|
NM_001384474.1(LOXHD1):c.3061+8G>T
|
rs764128579
|
0.00004
|
NM_001429.4(EP300):c.4347T>C (p.His1449=)
|
rs137986257
|
0.00004
|
NM_001458.5(FLNC):c.7291G>A (p.Val2431Met)
|
rs572952653
|
0.00004
|
NM_001844.5(COL2A1):c.3842G>A (p.Arg1281His)
|
rs763097721
|
0.00004
|
NM_001848.3(COL6A1):c.1575C>T (p.Pro525=)
|
rs781031251
|
0.00004
|
NM_001848.3(COL6A1):c.1656C>T (p.Ala552=)
|
rs377213930
|
0.00004
|
NM_001848.3(COL6A1):c.2109G>A (p.Thr703=)
|
rs760649238
|
0.00004
|
NM_001848.3(COL6A1):c.2610C>T (p.Asp870=)
|
rs759989949
|
0.00004
|
NM_001849.4(COL6A2):c.1817-8C>A
|
rs750444649
|
0.00004
|
NM_001849.4(COL6A2):c.1869C>T (p.Ser623=)
|
rs760704425
|
0.00004
|
NM_001849.4(COL6A2):c.2490G>A (p.Arg830=)
|
rs748047522
|
0.00004
|
NM_001849.4(COL6A2):c.735+7G>A
|
rs575365107
|
0.00004
|
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu)
|
rs202094480
|
0.00004
|
NM_001854.4(COL11A1):c.4377C>T (p.Gly1459=)
|
rs917541931
|
0.00004
|
NM_001854.4(COL11A1):c.510C>T (p.Ser170=)
|
rs749497678
|
0.00004
|
NM_001927.4(DES):c.1158C>T (p.Arg386=)
|
rs774323736
|
0.00004
|
NM_001927.4(DES):c.63C>T (p.Ala21=)
|
rs201458068
|
0.00004
|
NM_001966.4(EHHADH):c.144T>C (p.Ile48=)
|
rs370127523
|
0.00004
|
NM_001966.4(EHHADH):c.919A>G (p.Thr307Ala)
|
rs185950214
|
0.00004
|
NM_001999.4(FBN2):c.2555-6T>C
|
rs376507178
|
0.00004
|
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)
|
rs199910288
|
0.00004
|
NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=)
|
rs368775789
|
0.00004
|
NM_002458.3(MUC5B):c.17016C>T (p.Cys5672=)
|
rs368986524
|
0.00004
|
NM_002474.3(MYH11):c.503-9T>C
|
rs554607161
|
0.00004
|
NM_002693.3(POLG):c.2487C>T (p.Pro829=)
|
rs147563527
|
0.00004
|
NM_002693.3(POLG):c.2599-10C>T
|
rs769346219
|
0.00004
|
NM_002693.3(POLG):c.3222G>T (p.Val1074=)
|
rs746773616
|
0.00004
|
NM_002693.3(POLG):c.3444C>T (p.Arg1148=)
|
rs374937961
|
0.00004
|
NM_002900.3(RBP3):c.1581G>A (p.Pro527=)
|
rs782233629
|
0.00004
|
NM_003049.4(SLC10A1):c.517G>C (p.Gly173Arg)
|
rs750470666
|
0.00004
|
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met)
|
rs781721860
|
0.00004
|
NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val)
|
rs372740284
|
0.00004
|
NM_003482.4(KMT2D):c.10741-7A>G
|
rs550510739
|
0.00004
|
NM_003482.4(KMT2D):c.1075C>T (p.Arg359Cys)
|
rs372085797
|
0.00004
|
NM_003482.4(KMT2D):c.12712C>T (p.Arg4238Cys)
|
rs398123714
|
0.00004
|
NM_003482.4(KMT2D):c.1488G>A (p.Pro496=)
|
rs534236560
|
0.00004
|
NM_003482.4(KMT2D):c.16522-4T>G
|
rs779139301
|
0.00004
|
NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser)
|
rs376911077
|
0.00004
|
NM_003482.4(KMT2D):c.5892G>A (p.Pro1964=)
|
rs761930376
|
0.00004
|
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met)
|
rs760263014
|
0.00004
|
NM_003630.3(PEX3):c.818+3A>G
|
rs975195178
|
0.00004
|
NM_003659.4(AGPS):c.1335C>T (p.Asp445=)
|
rs200039061
|
0.00004
|
NM_003673.4(TCAP):c.447C>T (p.Pro149=)
|
rs45614332
|
0.00004
|
NM_003742.4(ABCB11):c.2908C>T (p.Pro970Ser)
|
rs779096015
|
0.00004
|
NM_003742.4(ABCB11):c.711G>A (p.Arg237=)
|
rs765070028
|
0.00004
|
NM_003839.4(TNFRSF11A):c.1515G>A (p.Ala505=)
|
rs374310569
|
0.00004
|
NM_004006.3(DMD):c.10128A>G (p.Leu3376=)
|
rs755438733
|
0.00004
|
NM_004006.3(DMD):c.1159A>G (p.Met387Val)
|
rs770202940
|
0.00004
|
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser)
|
rs755456119
|
0.00004
|
NM_004006.3(DMD):c.1603-6C>T
|
rs774626474
|
0.00004
|
NM_004006.3(DMD):c.1848C>A (p.Ser616=)
|
rs376024929
|
0.00004
|
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln)
|
rs781015830
|
0.00004
|
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys)
|
rs398123931
|
0.00004
|
NM_004006.3(DMD):c.3814T>C (p.Leu1272=)
|
rs746405191
|
0.00004
|
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser)
|
rs766746479
|
0.00004
|
NM_004006.3(DMD):c.5827A>G (p.Met1943Val)
|
rs181849614
|
0.00004
|
NM_004006.3(DMD):c.618A>G (p.Gln206=)
|
rs727503865
|
0.00004
|
NM_004006.3(DMD):c.7130C>T (p.Pro2377Leu)
|
rs201262489
|
0.00004
|
NM_004006.3(DMD):c.8226A>G (p.Gln2742=)
|
rs746514008
|
0.00004
|
NM_004006.3(DMD):c.8643A>G (p.Leu2881=)
|
rs747605156
|
0.00004
|
NM_004006.3(DMD):c.9091G>A (p.Val3031Ile)
|
rs143426249
|
0.00004
|
NM_004006.3(DMD):c.9198G>A (p.Ser3066=)
|
rs753594128
|
0.00004
|
NM_004006.3(DMD):c.9987A>G (p.Leu3329=)
|
rs145595228
|
0.00004
|
NM_004369.4(COL6A3):c.285G>A (p.Thr95=)
|
rs373435541
|
0.00004
|
NM_004369.4(COL6A3):c.4848C>T (p.Ser1616=)
|
rs200948078
|
0.00004
|
NM_004369.4(COL6A3):c.6312C>T (p.Gly2104=)
|
rs377074792
|
0.00004
|
NM_004369.4(COL6A3):c.7551C>T (p.Asn2517=)
|
rs570963533
|
0.00004
|
NM_004380.3(CREBBP):c.1275T>C (p.His425=)
|
rs758886547
|
0.00004
|
NM_004380.3(CREBBP):c.2112A>G (p.Pro704=)
|
rs398124142
|
0.00004
|
NM_004380.3(CREBBP):c.711C>T (p.Ser237=)
|
rs146049063
|
0.00004
|
NM_004393.6(DAG1):c.222C>T (p.Val74=)
|
rs150727558
|
0.00004
|
NM_004463.3(FGD1):c.2786C>T (p.Pro929Leu)
|
rs727503925
|
0.00004
|
NM_004482.4(GALNT3):c.1392+7T>G
|
rs779970449
|
0.00004
|
NM_004560.4(ROR2):c.1054A>G (p.Ser352Gly)
|
rs569242465
|
0.00004
|
NM_004565.3(PEX14):c.-7C>T
|
rs774075581
|
0.00004
|
NM_004656.4(BAP1):c.1227G>C (p.Val409=)
|
rs201203425
|
0.00004
|
NM_004817.4(TJP2):c.1629G>A (p.Ser543=)
|
rs771239031
|
0.00004
|
NM_004817.4(TJP2):c.3183T>G (p.Gly1061=)
|
rs749387422
|
0.00004
|
NM_004817.4(TJP2):c.848G>A (p.Arg283Gln)
|
rs748102718
|
0.00004
|
NM_004820.5(CYP7B1):c.171A>T (p.Gly57=)
|
rs372135575
|
0.00004
|
NM_005249.5(FOXG1):c.1045T>G (p.Ser349Ala)
|
rs796052472
|
0.00004
|
NM_005422.4(TECTA):c.1685C>T (p.Thr562Met)
|
rs779401654
|
0.00004
|
NM_005476.7(GNE):c.1908G>A (p.Ala636=)
|
rs200812140
|
0.00004
|
NM_005477.3(HCN4):c.2197G>A (p.Val733Ile)
|
rs376631391
|
0.00004
|
NM_005477.3(HCN4):c.2864C>T (p.Pro955Leu)
|
rs371562763
|
0.00004
|
NM_005529.7(HSPG2):c.11046C>T (p.Ala3682=)
|
rs149466423
|
0.00004
|
NM_005529.7(HSPG2):c.5115C>G (p.Pro1705=)
|
rs370558075
|
0.00004
|
NM_005989.4(AKR1D1):c.60C>T (p.Ile20=)
|
rs756630815
|
0.00004
|
NM_005989.4(AKR1D1):c.723T>C (p.Asp241=)
|
rs200829661
|
0.00004
|
NM_006005.3(WFS1):c.1743C>T (p.Gly581=)
|
rs377539343
|
0.00004
|
NM_006005.3(WFS1):c.1801G>A (p.Val601Met)
|
rs147838635
|
0.00004
|
NM_006005.3(WFS1):c.498C>G (p.Leu166=)
|
rs758731318
|
0.00004
|
NM_006019.4(TCIRG1):c.1710G>A (p.Thr570=)
|
rs199696448
|
0.00004
|
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val)
|
rs368199588
|
0.00004
|
NM_006031.6(PCNT):c.1281C>T (p.His427=)
|
rs142413458
|
0.00004
|
NM_006279.5(ST3GAL3):c.660C>T (p.Tyr220=)
|
rs201204481
|
0.00004
|
NM_006445.4(PRPF8):c.3045C>T (p.Val1015=)
|
rs770535800
|
0.00004
|
NM_006516.4(SLC2A1):c.179C>T (p.Thr60Met)
|
rs142986731
|
0.00004
|
NM_006516.4(SLC2A1):c.321C>T (p.Ala107=)
|
rs398124230
|
0.00004
|
NM_006662.3(SRCAP):c.5610C>T (p.Pro1870=)
|
rs141985098
|
0.00004
|
NM_006946.4(SPTBN2):c.3112G>A (p.Ala1038Thr)
|
rs549918589
|
0.00004
|
NM_007126.5(VCP):c.1242G>A (p.Leu414=)
|
rs375262833
|
0.00004
|
NM_007294.4(BRCA1):c.425C>A (p.Pro142His)
|
rs55971303
|
0.00004
|
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr)
|
rs80357013
|
0.00004
|
NM_012210.4(TRIM32):c.201T>C (p.Ile67=)
|
rs780799984
|
0.00004
|
NM_012210.4(TRIM32):c.339G>C (p.Arg113=)
|
rs150477945
|
0.00004
|
NM_012210.4(TRIM32):c.501G>A (p.Lys167=)
|
rs200085883
|
0.00004
|
NM_012254.3(SLC27A5):c.225C>T (p.Leu75=)
|
rs372436444
|
0.00004
|
NM_012301.4(MAGI2):c.1530C>T (p.Tyr510=)
|
rs201057526
|
0.00004
|
NM_014000.3(VCL):c.2652G>A (p.Glu884=)
|
rs371187988
|
0.00004
|
NM_014014.5(SNRNP200):c.4728C>T (p.Ile1576=)
|
rs377641548
|
0.00004
|
NM_014324.6(AMACR):c.1011C>T (p.Ile337=)
|
rs779290495
|
0.00004
|
NM_014425.5(INVS):c.1107T>C (p.His369=)
|
rs760637052
|
0.00004
|
NM_014639.4(SKIC3):c.3710C>T (p.Ala1237Val)
|
rs557540994
|
0.00004
|
NM_014714.4(IFT140):c.3210G>A (p.Ala1070=)
|
rs372233286
|
0.00004
|
NM_014780.5(CUL7):c.156C>T (p.Asp52=)
|
rs368209176
|
0.00004
|
NM_014795.4(ZEB2):c.374C>T (p.Thr125Met)
|
rs727504227
|
0.00004
|
NM_015102.5(NPHP4):c.1653C>T (p.Ala551=)
|
rs751732786
|
0.00004
|
NM_015102.5(NPHP4):c.267C>T (p.Ile89=)
|
rs372171438
|
0.00004
|
NM_015295.3(SMCHD1):c.288C>T (p.Thr96=)
|
rs369550628
|
0.00004
|
NM_015311.3(OBSL1):c.4122C>T (p.Gly1374=)
|
rs374001837
|
0.00004
|
NM_015404.4(WHRN):c.1417-8G>A
|
rs202228471
|
0.00004
|
NM_016239.4(MYO15A):c.5193C>T (p.Phe1731=)
|
rs767426819
|
0.00004
|
NM_016356.5(DCDC2):c.1199G>A (p.Arg400His)
|
rs771591530
|
0.00004
|
NM_017739.4(POMGNT1):c.1476C>A (p.Ile492=)
|
rs375432782
|
0.00004
|
NM_017777.4(MKS1):c.1273+6C>T
|
rs371480628
|
0.00004
|
NM_017777.4(MKS1):c.1274-4G>A
|
rs377033778
|
0.00004
|
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=)
|
rs554737227
|
0.00004
|
NM_018006.5(TRMU):c.1218C>T (p.Ser406=)
|
rs754239335
|
0.00004
|
NM_018006.5(TRMU):c.30C>T (p.Ala10=)
|
rs776692221
|
0.00004
|
NM_018006.5(TRMU):c.429C>T (p.His143=)
|
rs746421213
|
0.00004
|
NM_018136.5(ASPM):c.3726A>G (p.Thr1242=)
|
rs376539395
|
0.00004
|
NM_018418.5(SPATA7):c.1446C>T (p.Asn482=)
|
rs766017194
|
0.00004
|
NM_020223.4(FAM20C):c.795G>A (p.Ser265=)
|
rs766106805
|
0.00004
|
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=)
|
rs556687525
|
0.00004
|
NM_020754.4(ARHGAP31):c.3255C>T (p.Pro1085=)
|
rs372301689
|
0.00004
|
NM_020754.4(ARHGAP31):c.3461C>T (p.Pro1154Leu)
|
rs772715426
|
0.00004
|
NM_021939.4(FKBP10):c.315C>T (p.Gly105=)
|
rs373064272
|
0.00004
|
NM_022081.6(HPS4):c.13A>G (p.Thr5Ala)
|
rs570371168
|
0.00004
|
NM_022124.6(CDH23):c.1719C>T (p.Asn573=)
|
rs761913744
|
0.00004
|
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu)
|
rs537971045
|
0.00004
|
NM_022436.3(ABCG5):c.1398C>T (p.Ala466=)
|
rs373514009
|
0.00004
|
NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile)
|
rs200839584
|
0.00004
|
NM_022436.3(ABCG5):c.915G>A (p.Thr305=)
|
rs773296588
|
0.00004
|
NM_022437.3(ABCG8):c.15G>A (p.Ala5=)
|
rs200951677
|
0.00004
|
NM_022437.3(ABCG8):c.331A>C (p.Arg111=)
|
rs752358589
|
0.00004
|
NM_022437.3(ABCG8):c.369C>T (p.His123=)
|
rs139859350
|
0.00004
|
NM_024009.3(GJB3):c.499G>A (p.Val167Met)
|
rs376748531
|
0.00004
|
NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=)
|
rs367699419
|
0.00004
|
NM_024408.4(NOTCH2):c.5958T>C (p.Ala1986=)
|
rs563486507
|
0.00004
|
NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=)
|
rs369912969
|
0.00004
|
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)
|
rs139290300
|
0.00004
|
NM_024649.5(BBS1):c.48-9C>A
|
rs765571574
|
0.00004
|
NM_024757.5(EHMT1):c.3401G>A (p.Arg1134Gln)
|
rs373174786
|
0.00004
|
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro)
|
rs182595609
|
0.00004
|
NM_025074.7(FRAS1):c.9450G>T (p.Val3150=)
|
rs372168929
|
0.00004
|
NM_030665.4(RAI1):c.2220C>T (p.Ser740=)
|
rs149807469
|
0.00004
|
NM_030665.4(RAI1):c.3143C>A (p.Ala1048Asp)
|
rs758990336
|
0.00004
|
NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu)
|
rs765063091
|
0.00004
|
NM_032119.4(ADGRV1):c.12682A>G (p.Ile4228Val)
|
rs532836800
|
0.00004
|
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr)
|
rs376376418
|
0.00004
|
NM_032119.4(ADGRV1):c.17388G>A (p.Gln5796=)
|
rs183208875
|
0.00004
|
NM_032119.4(ADGRV1):c.1801G>T (p.Asp601Tyr)
|
rs375085032
|
0.00004
|
NM_032119.4(ADGRV1):c.3819G>A (p.Arg1273=)
|
rs764738838
|
0.00004
|
NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp)
|
rs370432538
|
0.00004
|
NM_032119.4(ADGRV1):c.5537T>C (p.Val1846Ala)
|
rs756062421
|
0.00004
|
NM_032273.4(TMEM126A):c.531A>G (p.Gln177=)
|
rs369467944
|
0.00004
|
NM_033337.3(CAV3):c.201C>A (p.Val67=)
|
rs201593267
|
0.00004
|
NM_033337.3(CAV3):c.384C>T (p.Phe128=)
|
rs773934743
|
0.00004
|
NM_033360.4(KRAS):c.93A>G (p.Glu31=)
|
rs377354475
|
0.00004
|
NM_057176.3(BSND):c.744G>A (p.Thr248=)
|
rs754819005
|
0.00004
|
NM_058246.4(DNAJB6):c.276A>G (p.Thr92=)
|
rs765815570
|
0.00004
|
NM_080680.3(COL11A2):c.12C>T (p.Cys4=)
|
rs914781832
|
0.00004
|
NM_080680.3(COL11A2):c.2841C>T (p.Pro947=)
|
rs565891154
|
0.00004
|
NM_080680.3(COL11A2):c.4676G>A (p.Arg1559Gln)
|
rs774845879
|
0.00004
|
NM_130837.3(OPA1):c.2520+13A>G
|
rs371943802
|
0.00004
|
NM_130839.5(UBE3A):c.1728G>A (p.Val576=)
|
rs749731066
|
0.00004
|
NM_133379.5(TTN):c.14526T>A (p.Asn4842Lys)
|
rs776361113
|
0.00004
|
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro)
|
rs149892167
|
0.00004
|
NM_138694.4(PKHD1):c.2280-10C>T
|
rs749295454
|
0.00004
|
NM_138694.4(PKHD1):c.624T>C (p.His208=)
|
rs767511678
|
0.00004
|
NM_144672.4(OTOA):c.462C>T (p.Gly154=)
|
rs767974412
|
0.00004
|
NM_145200.5(CABP4):c.531C>A (p.Ile177=)
|
rs754194692
|
0.00004
|
NM_145239.3(PRRT2):c.224C>T (p.Pro75Leu)
|
rs147004110
|
0.00004
|
NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr)
|
rs201636905
|
0.00004
|
NM_152564.5(VPS13B):c.2825-4T>A
|
rs201354177
|
0.00004
|
NM_152564.5(VPS13B):c.4950-9A>G
|
rs373474658
|
0.00004
|
NM_153240.5(NPHP3):c.1083T>C (p.Ser361=)
|
rs781244729
|
0.00004
|
NM_153252.5(BRWD3):c.4309G>A (p.Ala1437Thr)
|
rs767555361
|
0.00004
|
NM_153717.3(EVC):c.2305-6C>T
|
rs781705295
|
0.00004
|
NM_170699.3(GPBAR1):c.528C>T (p.Pro176=)
|
rs202154681
|
0.00004
|
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)
|
rs372011095
|
0.00004
|
NM_170707.4(LMNA):c.726G>A (p.Ala242=)
|
rs763625309
|
0.00004
|
NM_182914.3(SYNE2):c.9430C>T (p.Leu3144Phe)
|
rs886044254
|
0.00004
|
NM_182961.4(SYNE1):c.10257T>C (p.His3419=)
|
rs147631683
|
0.00004
|
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=)
|
rs569973824
|
0.00004
|
NM_182961.4(SYNE1):c.1497C>T (p.His499=)
|
rs758555741
|
0.00004
|
NM_182961.4(SYNE1):c.16278G>A (p.Thr5426=)
|
rs779112403
|
0.00004
|
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=)
|
rs146238726
|
0.00004
|
NM_182961.4(SYNE1):c.19188C>T (p.Asp6396=)
|
rs369626489
|
0.00004
|
NM_182961.4(SYNE1):c.26355C>T (p.His8785=)
|
rs771334693
|
0.00004
|
NM_182961.4(SYNE1):c.462C>T (p.Ser154=)
|
rs761939786
|
0.00004
|
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=)
|
rs187410988
|
0.00004
|
NM_198506.5(LRIT3):c.1467C>T (p.Asn489=)
|
rs369821286
|
0.00004
|
NM_198999.3(SLC26A5):c.1828G>A (p.Glu610Lys)
|
rs148538056
|
0.00004
|
NM_201384.3(PLEC):c.11421C>T (p.Gly3807=)
|
rs782144786
|
0.00004
|
NM_201384.3(PLEC):c.13596C>T (p.Ala4532=)
|
rs781917029
|
0.00004
|
NM_201384.3(PLEC):c.2580G>A (p.Pro860=)
|
rs782468518
|
0.00004
|
NM_201384.3(PLEC):c.4137C>T (p.His1379=)
|
rs782222813
|
0.00004
|
NM_201384.3(PLEC):c.6312G>A (p.Ala2104=)
|
rs782048792
|
0.00004
|
NM_201384.3(PLEC):c.6343G>A (p.Glu2115Lys)
|
rs782713908
|
0.00004
|
NM_201384.3(PLEC):c.6642G>A (p.Ala2214=)
|
rs559736151
|
0.00004
|
NM_201384.3(PLEC):c.7667G>A (p.Arg2556Gln)
|
rs782640329
|
0.00004
|
NM_201384.3(PLEC):c.8577C>T (p.His2859=)
|
rs200012425
|
0.00004
|
NM_206933.4(USH2A):c.8856C>T (p.Asp2952=)
|
rs149306655
|
0.00004
|
NM_207352.4(CYP4V2):c.1479C>T (p.Asn493=)
|
rs374270799
|
0.00004
|
NC_000002.12:g.178605717T>C
|
rs772324772
|
0.00003
|
NM_000051.4(ATM):c.6234C>T (p.Ser2078=)
|
rs569483748
|
0.00003
|
NM_000051.4(ATM):c.6465G>A (p.Val2155=)
|
rs140423883
|
0.00003
|
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His)
|
rs80358398
|
0.00003
|
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu)
|
rs28897717
|
0.00003
|
NM_000071.3(CBS):c.435G>A (p.Pro145=)
|
rs148782895
|
0.00003
|
NM_000082.4(ERCC8):c.510T>C (p.Leu170=)
|
rs886042104
|
0.00003
|
NM_000088.4(COL1A1):c.3258C>T (p.Pro1086=)
|
rs200319927
|
0.00003
|
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=)
|
rs794727586
|
0.00003
|
NM_000092.5(COL4A4):c.90C>T (p.Leu30=)
|
rs747805491
|
0.00003
|
NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu)
|
rs540131206
|
0.00003
|
NM_000113.3(TOR1A):c.990C>T (p.Tyr330=)
|
rs148849547
|
0.00003
|
NM_000117.3(EMD):c.243C>T (p.Asp81=)
|
rs150757295
|
0.00003
|
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)
|
rs762400500
|
0.00003
|
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg)
|
rs199682686
|
0.00003
|
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=)
|
rs375624881
|
0.00003
|
NM_000142.5(FGFR3):c.1002C>T (p.Ala334=)
|
rs376787929
|
0.00003
|
NM_000142.5(FGFR3):c.1596C>T (p.Ile532=)
|
rs528979086
|
0.00003
|
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)
|
rs759292700
|
0.00003
|
NM_000152.5(GAA):c.2739C>G (p.Pro913=)
|
rs370765733
|
0.00003
|
NM_000214.3(JAG1):c.2304C>T (p.Cys768=)
|
rs755427292
|
0.00003
|
NM_000235.4(LIPA):c.1077G>A (p.Gln359=)
|
rs538507117
|
0.00003
|
NM_000235.4(LIPA):c.846A>G (p.Thr282=)
|
rs534838107
|
0.00003
|
NM_000238.4(KCNH2):c.1067G>A (p.Arg356His)
|
rs730880118
|
0.00003
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000316.3(PTH1R):c.1728T>C (p.Ser576=)
|
rs201013164
|
0.00003
|
NM_000330.4(RS1):c.234G>A (p.Pro78=)
|
rs183092299
|
0.00003
|
NM_000362.5(TIMP3):c.459G>A (p.Leu153=)
|
rs757458960
|
0.00003
|
NM_000370.3(TTPA):c.553-6C>T
|
rs761911043
|
0.00003
|
NM_000372.5(TYR):c.759A>T (p.Gly253=)
|
rs200936835
|
0.00003
|
NM_000392.5(ABCC2):c.3927C>T (p.Tyr1309=)
|
rs4148401
|
0.00003
|
NM_000443.4(ABCB4):c.2295T>C (p.Ser765=)
|
rs371013005
|
0.00003
|
NM_000443.4(ABCB4):c.3471C>T (p.Ile1157=)
|
rs752578370
|
0.00003
|
NM_000443.4(ABCB4):c.525G>A (p.Thr175=)
|
rs558416191
|
0.00003
|
NM_000443.4(ABCB4):c.717G>A (p.Ser239=)
|
rs770169131
|
0.00003
|
NM_000460.4(THPO):c.183G>T (p.Leu61=)
|
rs200666378
|
0.00003
|
NM_000478.6(ALPL):c.1479C>T (p.Asn493=)
|
rs759758484
|
0.00003
|
NM_000492.4(CFTR):c.2736G>A (p.Ser912=)
|
rs200901072
|
0.00003
|
NM_000492.4(CFTR):c.489+8T>G
|
rs727504712
|
0.00003
|
NM_000516.7(GNAS):c.102G>A (p.Lys34=)
|
rs1177100316
|
0.00003
|
NM_000531.6(OTC):c.808C>G (p.Gln270Glu)
|
rs72558451
|
0.00003
|
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu)
|
rs867851900
|
0.00003
|
NM_000540.3(RYR1):c.9624G>T (p.Pro3208=)
|
rs552470353
|
0.00003
|
NM_000543.5(SMPD1):c.1587G>A (p.Pro529=)
|
rs140770832
|
0.00003
|
NM_000548.5(TSC2):c.1600-9T>C
|
rs886043268
|
0.00003
|
NM_000548.5(TSC2):c.4746C>T (p.Ile1582=)
|
rs751305758
|
0.00003
|
NM_000548.5(TSC2):c.493C>T (p.Leu165=)
|
rs758521946
|
0.00003
|
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)
|
rs45485591
|
0.00003
|
NM_000601.6(HGF):c.2019T>C (p.Tyr673=)
|
rs367800414
|
0.00003
|
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=)
|
rs373390136
|
0.00003
|
NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr)
|
rs398123519
|
0.00003
|
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=)
|
rs754527651
|
0.00003
|
NM_000719.7(CACNA1C):c.50-3C>T
|
rs780161540
|
0.00003
|
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=)
|
rs530924728
|
0.00003
|
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)
|
rs374528680
|
0.00003
|
NM_000784.4(CYP27A1):c.315C>T (p.His105=)
|
rs753981913
|
0.00003
|
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=)
|
rs200060245
|
0.00003
|
NM_000875.5(IGF1R):c.1485C>T (p.Phe495=)
|
rs886043360
|
0.00003
|
NM_000875.5(IGF1R):c.1680G>A (p.Lys560=)
|
rs754035007
|
0.00003
|
NM_000875.5(IGF1R):c.189C>T (p.Leu63=)
|
rs149417802
|
0.00003
|
NM_000875.5(IGF1R):c.2745G>A (p.Ser915=)
|
rs757589571
|
0.00003
|
NM_001025295.3(IFITM5):c.8C>T (p.Thr3Met)
|
rs376963969
|
0.00003
|
NM_001032382.2(PQBP1):c.492G>T (p.Gly164=)
|
rs375706327
|
0.00003
|
NM_001034850.3(RETREG1):c.750G>T (p.Leu250=)
|
rs767329180
|
0.00003
|
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=)
|
rs763374929
|
0.00003
|
NM_001042413.2(GLIS3):c.609G>A (p.Ser203=)
|
rs148306701
|
0.00003
|
NM_001042432.2(CLN3):c.1198-5C>T
|
rs764999720
|
0.00003
|
NM_001048166.1(STIL):c.892A>G (p.Asn298Asp)
|
rs770213403
|
0.00003
|
NM_001077365.2(POMT1):c.1698+6C>T
|
rs180847856
|
0.00003
|
NM_001079802.2(FKTN):c.393G>A (p.Glu131=)
|
rs1472560195
|
0.00003
|
NM_001079802.2(FKTN):c.402A>T (p.Gly134=)
|
rs780921233
|
0.00003
|
NM_001079802.2(FKTN):c.911-8C>A
|
rs749557617
|
0.00003
|
NM_001101426.4(CRPPA):c.789+9G>A
|
rs375132134
|
0.00003
|
NM_001110556.2(FLNA):c.1242C>T (p.Gly414=)
|
rs782598234
|
0.00003
|
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile)
|
rs376774130
|
0.00003
|
NM_001110556.2(FLNA):c.6108G>A (p.Pro2036=)
|
rs782221205
|
0.00003
|
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)
|
rs193922678
|
0.00003
|
NM_001126121.2(SLC25A19):c.564C>T (p.Tyr188=)
|
rs145654111
|
0.00003
|
NM_001128178.3(NPHP1):c.330-4G>A
|
rs774162169
|
0.00003
|
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=)
|
rs752878085
|
0.00003
|
NM_001130987.2(DYSF):c.1449+7C>T
|
rs199608017
|
0.00003
|
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=)
|
rs754177085
|
0.00003
|
NM_001130987.2(DYSF):c.760-8G>C
|
rs748159785
|
0.00003
|
NM_001142800.2(EYS):c.5645-8C>T
|
rs886044616
|
0.00003
|
NM_001145358.2(SIN3A):c.618C>A (p.Gly206=)
|
rs372626992
|
0.00003
|
NM_001145809.2(MYH14):c.3884G>A (p.Arg1295Gln)
|
rs377014092
|
0.00003
|
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=)
|
rs2229008
|
0.00003
|
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=)
|
rs374874999
|
0.00003
|
NM_001165963.4(SCN1A):c.144C>T (p.Gly48=)
|
rs886043534
|
0.00003
|
NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=)
|
rs138181528
|
0.00003
|
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=)
|
rs766317271
|
0.00003
|
NM_001177316.2(SLC34A3):c.978C>T (p.Ile326=)
|
rs886044633
|
0.00003
|
NM_001182.5(ALDH7A1):c.1176T>C (p.Gly392=)
|
rs935431600
|
0.00003
|
NM_001193315.2(VIPAS39):c.1089+8C>G
|
rs371371767
|
0.00003
|
NM_001193315.2(VIPAS39):c.15G>A (p.Lys5=)
|
rs768593671
|
0.00003
|
NM_001193315.2(VIPAS39):c.246C>T (p.His82=)
|
rs569525220
|
0.00003
|
NM_001206979.2(NR1H4):c.1079-8C>T
|
rs764238006
|
0.00003
|
NM_001256317.3(TMPRSS3):c.1266C>T (p.Ile422=)
|
rs372469227
|
0.00003
|
NM_001267550.2(TTN):c.100116C>T (p.Phe33372=)
|
rs770089807
|
0.00003
|
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His)
|
rs374876608
|
0.00003
|
NM_001267550.2(TTN):c.100534A>T (p.Asn33512Tyr)
|
rs778965506
|
0.00003
|
NM_001267550.2(TTN):c.102024A>G (p.Leu34008=)
|
rs727504677
|
0.00003
|
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr)
|
rs370618537
|
0.00003
|
NM_001267550.2(TTN):c.105182C>T (p.Ala35061Val)
|
rs762136167
|
0.00003
|
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met)
|
rs747161494
|
0.00003
|
NM_001267550.2(TTN):c.106827T>G (p.Ile35609Met)
|
rs727504540
|
0.00003
|
NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu)
|
rs766440492
|
0.00003
|
NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala)
|
rs374859388
|
0.00003
|
NM_001267550.2(TTN):c.107647T>G (p.Ser35883Ala)
|
rs1553477432
|
0.00003
|
NM_001267550.2(TTN):c.12564C>A (p.Ala4188=)
|
rs547338168
|
0.00003
|
NM_001267550.2(TTN):c.1288G>A (p.Val430Ile)
|
rs371639583
|
0.00003
|
NM_001267550.2(TTN):c.14588G>A (p.Gly4863Glu)
|
rs375680312
|
0.00003
|
NM_001267550.2(TTN):c.15634G>A (p.Gly5212Arg)
|
rs377754692
|
0.00003
|
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met)
|
rs72648936
|
0.00003
|
NM_001267550.2(TTN):c.17228G>A (p.Arg5743Gln)
|
rs753892271
|
0.00003
|
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=)
|
rs751902051
|
0.00003
|
NM_001267550.2(TTN):c.2022A>C (p.Arg674Ser)
|
rs180694107
|
0.00003
|
NM_001267550.2(TTN):c.24621C>T (p.Asp8207=)
|
rs751733811
|
0.00003
|
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser)
|
rs370962244
|
0.00003
|
NM_001267550.2(TTN):c.2650G>A (p.Ala884Thr)
|
rs772195446
|
0.00003
|
NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr)
|
rs375907742
|
0.00003
|
NM_001267550.2(TTN):c.28127C>G (p.Thr9376Arg)
|
rs749875409
|
0.00003
|
NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met)
|
rs375209383
|
0.00003
|
NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe)
|
rs140953779
|
0.00003
|
NM_001267550.2(TTN):c.30088C>T (p.Pro10030Ser)
|
rs368531555
|
0.00003
|
NM_001267550.2(TTN):c.34675A>G (p.Ile11559Val)
|
rs752903377
|
0.00003
|
NM_001267550.2(TTN):c.35083G>A (p.Glu11695Lys)
|
rs376117402
|
0.00003
|
NM_001267550.2(TTN):c.35249T>C (p.Ile11750Thr)
|
rs398124447
|
0.00003
|
NM_001267550.2(TTN):c.35268G>A (p.Pro11756=)
|
rs778338717
|
0.00003
|
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)
|
rs199889888
|
0.00003
|
NM_001267550.2(TTN):c.41406C>T (p.Cys13802=)
|
rs749356221
|
0.00003
|
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=)
|
rs756282138
|
0.00003
|
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His)
|
rs762128685
|
0.00003
|
NM_001267550.2(TTN):c.46221C>T (p.Asp15407=)
|
rs370808856
|
0.00003
|
NM_001267550.2(TTN):c.4650G>A (p.Val1550=)
|
rs915170239
|
0.00003
|
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser)
|
rs397517588
|
0.00003
|
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met)
|
rs368057764
|
0.00003
|
NM_001267550.2(TTN):c.47516T>C (p.Ile15839Thr)
|
rs764388462
|
0.00003
|
NM_001267550.2(TTN):c.49395C>T (p.Asp16465=)
|
rs749308557
|
0.00003
|
NM_001267550.2(TTN):c.49527A>G (p.Thr16509=)
|
rs727505248
|
0.00003
|
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile)
|
rs377141765
|
0.00003
|
NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile)
|
rs567781604
|
0.00003
|
NM_001267550.2(TTN):c.52242C>T (p.Pro17414=)
|
rs765216874
|
0.00003
|
NM_001267550.2(TTN):c.53881+4C>T
|
rs187632918
|
0.00003
|
NM_001267550.2(TTN):c.53926A>G (p.Ile17976Val)
|
rs371424482
|
0.00003
|
NM_001267550.2(TTN):c.54054G>A (p.Lys18018=)
|
rs761146363
|
0.00003
|
NM_001267550.2(TTN):c.55692T>A (p.Pro18564=)
|
rs200864020
|
0.00003
|
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=)
|
rs553313488
|
0.00003
|
NM_001267550.2(TTN):c.56960T>C (p.Ile18987Thr)
|
rs373351577
|
0.00003
|
NM_001267550.2(TTN):c.5698G>A (p.Val1900Met)
|
rs750823043
|
0.00003
|
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val)
|
rs374203813
|
0.00003
|
NM_001267550.2(TTN):c.57777G>A (p.Ala19259=)
|
rs376930907
|
0.00003
|
NM_001267550.2(TTN):c.58613C>A (p.Thr19538Lys)
|
rs370686112
|
0.00003
|
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His)
|
rs756091180
|
0.00003
|
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr)
|
rs558670891
|
0.00003
|
NM_001267550.2(TTN):c.62468G>A (p.Arg20823His)
|
rs758019778
|
0.00003
|
NM_001267550.2(TTN):c.62901T>C (p.Pro20967=)
|
rs1245531460
|
0.00003
|
NM_001267550.2(TTN):c.66057A>G (p.Lys22019=)
|
rs372989710
|
0.00003
|
NM_001267550.2(TTN):c.66288A>G (p.Glu22096=)
|
rs368297582
|
0.00003
|
NM_001267550.2(TTN):c.66372C>T (p.Thr22124=)
|
rs756981729
|
0.00003
|
NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys)
|
rs764330098
|
0.00003
|
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu)
|
rs145649088
|
0.00003
|
NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val)
|
rs771710562
|
0.00003
|
NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met)
|
rs540840413
|
0.00003
|
NM_001267550.2(TTN):c.70983G>A (p.Pro23661=)
|
rs568193318
|
0.00003
|
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe)
|
rs372309164
|
0.00003
|
NM_001267550.2(TTN):c.73765T>C (p.Tyr24589His)
|
rs371821218
|
0.00003
|
NM_001267550.2(TTN):c.78993A>G (p.Arg26331=)
|
rs745659756
|
0.00003
|
NM_001267550.2(TTN):c.80592A>G (p.Pro26864=)
|
rs769223218
|
0.00003
|
NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val)
|
rs371498697
|
0.00003
|
NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu)
|
rs368850871
|
0.00003
|
NM_001267550.2(TTN):c.83580G>A (p.Val27860=)
|
rs200096597
|
0.00003
|
NM_001267550.2(TTN):c.84188G>A (p.Arg28063His)
|
rs570847832
|
0.00003
|
NM_001267550.2(TTN):c.85389C>T (p.Leu28463=)
|
rs144731702
|
0.00003
|
NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr)
|
rs374022393
|
0.00003
|
NM_001267550.2(TTN):c.89295T>C (p.Ala29765=)
|
rs375374658
|
0.00003
|
NM_001267550.2(TTN):c.89313C>T (p.Val29771=)
|
rs746897918
|
0.00003
|
NM_001267550.2(TTN):c.89906T>C (p.Val29969Ala)
|
rs201220828
|
0.00003
|
NM_001267550.2(TTN):c.89984T>C (p.Ile29995Thr)
|
rs754676727
|
0.00003
|
NM_001267550.2(TTN):c.90198T>G (p.Val30066=)
|
rs761842174
|
0.00003
|
NM_001267550.2(TTN):c.9050G>A (p.Arg3017Lys)
|
rs372303620
|
0.00003
|
NM_001267550.2(TTN):c.90748G>A (p.Glu30250Lys)
|
rs200651247
|
0.00003
|
NM_001267550.2(TTN):c.92895C>T (p.Asn30965=)
|
rs1379558944
|
0.00003
|
NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys)
|
rs541040798
|
0.00003
|
NM_001267550.2(TTN):c.94590A>G (p.Pro31530=)
|
rs558347312
|
0.00003
|
NM_001267550.2(TTN):c.96921T>C (p.Asp32307=)
|
rs771385738
|
0.00003
|
NM_001267550.2(TTN):c.97442G>A (p.Gly32481Glu)
|
rs201364164
|
0.00003
|
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His)
|
rs371645048
|
0.00003
|
NM_001267550.2(TTN):c.98098+3G>A
|
rs556524594
|
0.00003
|
NM_001267550.2(TTN):c.99536T>C (p.Val33179Ala)
|
rs576759867
|
0.00003
|
NM_001267550.2(TTN):c.99840T>C (p.Asp33280=)
|
rs375178211
|
0.00003
|
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His)
|
rs200402620
|
0.00003
|
NM_001287.6(CLCN7):c.435C>T (p.Asp145=)
|
rs201964194
|
0.00003
|
NM_001330260.2(SCN8A):c.491C>T (p.Thr164Met)
|
rs775272996
|
0.00003
|
NM_001349338.3(FOXP1):c.1902C>T (p.His634=)
|
rs749771909
|
0.00003
|
NM_001360.3(DHCR7):c.198C>T (p.Cys66=)
|
rs775127532
|
0.00003
|
NM_001360.3(DHCR7):c.375C>T (p.Tyr125=)
|
rs779401555
|
0.00003
|
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg)
|
rs369793136
|
0.00003
|
NM_001365951.3(KIF1B):c.-5T>C
|
rs200491456
|
0.00003
|
NM_001367624.2(ZNF469):c.11278G>A (p.Glu3760Lys)
|
rs547014159
|
0.00003
|
NM_001374353.1(GLI2):c.2208G>A (p.Thr736=)
|
rs372206751
|
0.00003
|
NM_001374385.1(ATP8B1):c.1071C>T (p.Ile357=)
|
rs775490128
|
0.00003
|
NM_001374385.1(ATP8B1):c.2418+4C>T
|
rs777913106
|
0.00003
|
NM_001377.3(DYNC2H1):c.7149G>A (p.Thr2383=)
|
rs553516014
|
0.00003
|
NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu)
|
rs200985982
|
0.00003
|
NM_001378120.1(MBD5):c.4887G>A (p.Leu1629=)
|
rs779662045
|
0.00003
|
NM_001378414.1(HDAC4):c.1458C>T (p.Val486=)
|
rs139841625
|
0.00003
|
NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg)
|
rs760839591
|
0.00003
|
NM_001384474.1(LOXHD1):c.6148A>G (p.Met2050Val)
|
rs141749060
|
0.00003
|
NM_001386393.1(PANK2):c.744A>C (p.Ser248=)
|
rs778370524
|
0.00003
|
NM_001457.4(FLNB):c.3826G>T (p.Ala1276Ser)
|
rs199912711
|
0.00003
|
NM_001457.4(FLNB):c.6154C>T (p.Leu2052=)
|
rs372726521
|
0.00003
|
NM_001458.5(FLNC):c.2130C>T (p.Asp710=)
|
rs778781499
|
0.00003
|
NM_001458.5(FLNC):c.3243G>A (p.Ala1081=)
|
rs534482249
|
0.00003
|
NM_001605.3(AARS1):c.1275T>C (p.Thr425=)
|
rs750552137
|
0.00003
|
NM_001701.4(BAAT):c.165C>T (p.Phe55=)
|
rs377631387
|
0.00003
|
NM_001844.5(COL2A1):c.2410-7C>T
|
rs767041085
|
0.00003
|
NM_001844.5(COL2A1):c.4290G>A (p.Thr1430=)
|
rs554488169
|
0.00003
|
NM_001844.5(COL2A1):c.798G>A (p.Arg266=)
|
rs376753701
|
0.00003
|
NM_001845.6(COL4A1):c.3591C>T (p.Ala1197=)
|
rs768381482
|
0.00003
|
NM_001848.3(COL6A1):c.1671C>T (p.Asp557=)
|
rs770099663
|
0.00003
|
NM_001848.3(COL6A1):c.2148G>A (p.Pro716=)
|
rs780032842
|
0.00003
|
NM_001848.3(COL6A1):c.2670G>A (p.Ser890=)
|
rs527265374
|
0.00003
|
NM_001848.3(COL6A1):c.423C>T (p.Leu141=)
|
rs373486149
|
0.00003
|
NM_001849.4(COL6A2):c.115+10G>T
|
rs200797233
|
0.00003
|
NM_001849.4(COL6A2):c.162G>A (p.Ser54=)
|
rs780123839
|
0.00003
|
NM_001849.4(COL6A2):c.1962C>T (p.Ser654=)
|
rs150253422
|
0.00003
|
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=)
|
rs566966690
|
0.00003
|
NM_001849.4(COL6A2):c.612C>T (p.Ile204=)
|
rs773143298
|
0.00003
|
NM_001853.4(COL9A3):c.1095G>A (p.Glu365=)
|
rs776395616
|
0.00003
|
NM_001853.4(COL9A3):c.1548+7C>T
|
rs373996629
|
0.00003
|
NM_001909.5(CTSD):c.972+10G>A
|
rs531682785
|
0.00003
|
NM_001927.4(DES):c.229A>G (p.Thr77Ala)
|
rs769034192
|
0.00003
|
NM_002206.3(ITGA7):c.2295C>T (p.Ile765=)
|
rs181711509
|
0.00003
|
NM_002335.4(LRP5):c.4359C>T (p.Cys1453=)
|
rs755205426
|
0.00003
|
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)
|
rs121908974
|
0.00003
|
NM_002693.3(POLG):c.1956C>T (p.Ile652=)
|
rs757860628
|
0.00003
|
NM_002693.3(POLG):c.2019C>T (p.Ala673=)
|
rs557179508
|
0.00003
|
NM_002693.3(POLG):c.3480C>T (p.Thr1160=)
|
rs1057521589
|
0.00003
|
NM_003036.4(SKI):c.970-7A>G
|
rs199634070
|
0.00003
|
NM_003049.4(SLC10A1):c.936T>G (p.Thr312=)
|
rs201142538
|
0.00003
|
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met)
|
rs386134193
|
0.00003
|
NM_003322.6(TULP1):c.1323+9C>T
|
rs769417336
|
0.00003
|
NM_003482.4(KMT2D):c.12039A>G (p.Gly4013=)
|
rs567323882
|
0.00003
|
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=)
|
rs398123756
|
0.00003
|
NM_003482.4(KMT2D):c.9474G>C (p.Gln3158His)
|
rs770522446
|
0.00003
|
NM_003742.4(ABCB11):c.126C>T (p.Gly42=)
|
rs138800291
|
0.00003
|
NM_003742.4(ABCB11):c.2037G>A (p.Ala679=)
|
rs776223452
|
0.00003
|
NM_003742.4(ABCB11):c.2799G>T (p.Leu933=)
|
rs1057164807
|
0.00003
|
NM_003742.4(ABCB11):c.3060G>A (p.Val1020=)
|
rs368622067
|
0.00003
|
NM_003742.4(ABCB11):c.3411+10G>A
|
rs188996270
|
0.00003
|
NM_003835.4(RGS9):c.1662C>T (p.Thr554=)
|
rs200492363
|
0.00003
|
NM_003846.3(PEX11B):c.510T>G (p.Thr170=)
|
rs782275834
|
0.00003
|
NM_004006.3(DMD):c.1014A>G (p.Glu338=)
|
rs758035070
|
0.00003
|
NM_004006.3(DMD):c.10911G>A (p.Ser3637=)
|
rs747939733
|
0.00003
|
NM_004006.3(DMD):c.2293-8T>C
|
rs377050013
|
0.00003
|
NM_004006.3(DMD):c.3096C>G (p.Leu1032=)
|
rs770148717
|
0.00003
|
NM_004006.3(DMD):c.3663A>G (p.Val1221=)
|
rs750549006
|
0.00003
|
NM_004006.3(DMD):c.4049G>A (p.Arg1350His)
|
rs750981128
|
0.00003
|
NM_004006.3(DMD):c.5530C>A (p.Arg1844=)
|
rs1064325
|
0.00003
|
NM_004006.3(DMD):c.6614+7C>T
|
rs180719577
|
0.00003
|
NM_004006.3(DMD):c.7449C>T (p.Thr2483=)
|
rs766075840
|
0.00003
|
NM_004006.3(DMD):c.8218-5T>C
|
rs183643245
|
0.00003
|
NM_004006.3(DMD):c.8958G>A (p.Ala2986=)
|
rs755815057
|
0.00003
|
NM_004208.4(AIFM1):c.952G>A (p.Ala318Thr)
|
rs773680831
|
0.00003
|
NM_004333.6(BRAF):c.138+17C>G
|
rs756400234
|
0.00003
|
NM_004369.4(COL6A3):c.1293G>A (p.Pro431=)
|
rs376912950
|
0.00003
|
NM_004369.4(COL6A3):c.1785C>T (p.Ile595=)
|
rs114278376
|
0.00003
|
NM_004369.4(COL6A3):c.2343G>A (p.Ala781=)
|
rs561804945
|
0.00003
|
NM_004369.4(COL6A3):c.438C>T (p.Ile146=)
|
rs781449958
|
0.00003
|
NM_004369.4(COL6A3):c.5019C>T (p.Gly1673=)
|
rs140516220
|
0.00003
|
NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=)
|
rs762950440
|
0.00003
|
NM_004369.4(COL6A3):c.9329-33C>T
|
rs398124137
|
0.00003
|
NM_004380.3(CREBBP):c.423T>G (p.Ser141=)
|
rs760605470
|
0.00003
|
NM_004380.3(CREBBP):c.6006G>T (p.Val2002=)
|
rs768100377
|
0.00003
|
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=)
|
rs750845399
|
0.00003
|
NM_004447.6(EPS8):c.1230A>C (p.Gly410=)
|
rs184886917
|
0.00003
|
NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg)
|
rs142386992
|
0.00003
|
NM_004560.4(ROR2):c.51C>A (p.Ala17=)
|
rs886043361
|
0.00003
|
NM_004565.3(PEX14):c.330C>T (p.Gly110=)
|
rs772527603
|
0.00003
|
NM_004565.3(PEX14):c.807C>T (p.Asn269=)
|
rs757658916
|
0.00003
|
NM_004565.3(PEX14):c.824C>T (p.Ser275Leu)
|
rs727504081
|
0.00003
|
NM_004606.5(TAF1):c.4948T>C (p.Leu1650=)
|
rs779320845
|
0.00003
|
NM_004608.4(TBX6):c.298C>T (p.Leu100=)
|
rs759383268
|
0.00003
|
NM_004744.5(LRAT):c.300C>T (p.Gly100=)
|
rs770608706
|
0.00003
|
NM_004817.4(TJP2):c.2457A>G (p.Gln819=)
|
rs988720358
|
0.00003
|
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=)
|
rs771190188
|
0.00003
|
NM_005199.5(CHRNG):c.330G>A (p.Pro110=)
|
rs149931943
|
0.00003
|
NM_005422.4(TECTA):c.3493G>A (p.Val1165Met)
|
rs373132598
|
0.00003
|
NM_006019.4(TCIRG1):c.1583G>C (p.Ser528Thr)
|
rs555362865
|
0.00003
|
NM_006204.4(PDE6C):c.1266C>T (p.Thr422=)
|
rs530593118
|
0.00003
|
NM_006204.4(PDE6C):c.205G>A (p.Val69Met)
|
rs568930062
|
0.00003
|
NM_006432.5(NPC2):c.264T>C (p.Pro88=)
|
rs1011669605
|
0.00003
|
NM_006516.4(SLC2A1):c.652C>T (p.Arg218Cys)
|
rs147249343
|
0.00003
|
NM_006662.3(SRCAP):c.1545A>G (p.Glu515=)
|
rs770648545
|
0.00003
|
NM_006662.3(SRCAP):c.9633C>T (p.Ser3211=)
|
rs78465857
|
0.00003
|
NM_006899.5(IDH3B):c.1072-4G>A
|
rs556473702
|
0.00003
|
NM_006899.5(IDH3B):c.981G>A (p.Leu327=)
|
rs776399707
|
0.00003
|
NM_006922.4(SCN3A):c.1608C>T (p.Ser536=)
|
rs376381280
|
0.00003
|
NM_006922.4(SCN3A):c.3177A>G (p.Lys1059=)
|
rs370141420
|
0.00003
|
NM_006922.4(SCN3A):c.3744C>G (p.Thr1248=)
|
rs761584493
|
0.00003
|
NM_007126.5(VCP):c.1863C>T (p.Gly621=)
|
rs376510669
|
0.00003
|
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=)
|
rs747244348
|
0.00003
|
NM_007294.4(BRCA1):c.4251G>A (p.Val1417=)
|
rs777057839
|
0.00003
|
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
|
rs397509327
|
0.00003
|
NM_012210.4(TRIM32):c.-5G>A
|
rs774975492
|
0.00003
|
NM_012210.4(TRIM32):c.1134C>T (p.Tyr378=)
|
rs776448126
|
0.00003
|
NM_012338.4(TSPAN12):c.440C>A (p.Thr147Asn)
|
rs759104377
|
0.00003
|
NM_012469.4(PRPF6):c.772-7C>T
|
rs558787024
|
0.00003
|
NM_013382.7(POMT2):c.1017C>T (p.Tyr339=)
|
rs1026361359
|
0.00003
|
NM_013382.7(POMT2):c.1743G>A (p.Gly581=)
|
rs755254043
|
0.00003
|
NM_013382.7(POMT2):c.651C>T (p.Ala217=)
|
rs147845081
|
0.00003
|
NM_014141.6(CNTNAP2):c.1581C>T (p.Asp527=)
|
rs774328147
|
0.00003
|
NM_014141.6(CNTNAP2):c.180C>T (p.Pro60=)
|
rs753396304
|
0.00003
|
NM_014363.6(SACS):c.8142G>A (p.Ser2714=)
|
rs530250252
|
0.00003
|
NM_014425.5(INVS):c.2337G>C (p.Arg779=)
|
rs779298889
|
0.00003
|
NM_014491.4(FOXP2):c.2003+10G>C
|
rs199581885
|
0.00003
|
NM_014795.4(ZEB2):c.2886+4A>C
|
rs754532627
|
0.00003
|
NM_014874.4(MFN2):c.119A>G (p.Asn40Ser)
|
rs1354203259
|
0.00003
|
NM_015102.5(NPHP4):c.2646C>T (p.Asp882=)
|
rs774354969
|
0.00003
|
NM_015102.5(NPHP4):c.3417G>A (p.Pro1139=)
|
rs371527260
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1401+4A>G
|
rs727503880
|
0.00003
|
NM_015295.3(SMCHD1):c.5126C>T (p.Ser1709Leu)
|
rs151311806
|
0.00003
|
NM_015311.3(OBSL1):c.1215C>T (p.Asp405=)
|
rs564010604
|
0.00003
|
NM_015338.6(ASXL1):c.1388G>A (p.Ser463Asn)
|
rs373486603
|
0.00003
|
NM_015346.4(ZFYVE26):c.7317C>T (p.Asp2439=)
|
rs147321202
|
0.00003
|
NM_015404.4(WHRN):c.1473C>T (p.Phe491=)
|
rs886044241
|
0.00003
|
NM_016247.4(IMPG2):c.2531G>A (p.Arg844Gln)
|
rs139105788
|
0.00003
|
NM_016356.5(DCDC2):c.1359A>G (p.Pro453=)
|
rs374448795
|
0.00003
|
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)
|
rs201518848
|
0.00003
|
NM_017777.4(MKS1):c.813C>T (p.His271=)
|
rs201961765
|
0.00003
|
NM_017780.4(CHD7):c.2614-7G>T
|
rs762399977
|
0.00003
|
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=)
|
rs367615733
|
0.00003
|
NM_018136.5(ASPM):c.8821-9A>G
|
rs375911555
|
0.00003
|
NM_018668.5(VPS33B):c.1014C>T (p.His338=)
|
rs765002211
|
0.00003
|
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=)
|
rs140367649
|
0.00003
|
NM_020822.3(KCNT1):c.285C>T (p.Asn95=)
|
rs558966732
|
0.00003
|
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=)
|
rs149927148
|
0.00003
|
NM_022124.6(CDH23):c.3924C>T (p.Asp1308=)
|
rs776501112
|
0.00003
|
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=)
|
rs111033490
|
0.00003
|
NM_022124.6(CDH23):c.7077A>C (p.Thr2359=)
|
rs191154178
|
0.00003
|
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=)
|
rs766541944
|
0.00003
|
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys)
|
rs771006240
|
0.00003
|
NM_022436.3(ABCG5):c.834G>A (p.Ala278=)
|
rs373182673
|
0.00003
|
NM_022437.3(ABCG8):c.1125A>G (p.Glu375=)
|
rs371968769
|
0.00003
|
NM_022437.3(ABCG8):c.165+10C>T
|
rs574722652
|
0.00003
|
NM_022437.3(ABCG8):c.642G>A (p.Ser214=)
|
rs202198142
|
0.00003
|
NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu)
|
rs374740802
|
0.00003
|
NM_022455.5(NSD1):c.2765C>T (p.Thr922Met)
|
rs753460351
|
0.00003
|
NM_022455.5(NSD1):c.3272T>G (p.Leu1091Arg)
|
rs764231926
|
0.00003
|
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg)
|
rs570278983
|
0.00003
|
NM_022455.5(NSD1):c.7779C>T (p.Ala2593=)
|
rs398124388
|
0.00003
|
NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=)
|
rs763189481
|
0.00003
|
NM_024408.4(NOTCH2):c.2388T>A (p.Ile796=)
|
rs138943874
|
0.00003
|
NM_024408.4(NOTCH2):c.4005G>A (p.Pro1335=)
|
rs118188023
|
0.00003
|
NM_024408.4(NOTCH2):c.6028-4G>A
|
rs372465730
|
0.00003
|
NM_024408.4(NOTCH2):c.6307T>A (p.Ser2103Thr)
|
rs779311707
|
0.00003
|
NM_024529.5(CDC73):c.1418-4A>G
|
rs1269877061
|
0.00003
|
NM_024577.4(SH3TC2):c.1017C>T (p.Ala339=)
|
rs201779392
|
0.00003
|
NM_024596.5(MCPH1):c.297C>T (p.His99=)
|
rs727504012
|
0.00003
|
NM_024649.5(BBS1):c.1338C>T (p.Thr446=)
|
rs368302072
|
0.00003
|
NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn)
|
rs774174988
|
0.00003
|
NM_024757.5(EHMT1):c.86-5G>A
|
rs371370370
|
0.00003
|
NM_025074.7(FRAS1):c.8752+9T>C
|
rs191984935
|
0.00003
|
NM_030665.4(RAI1):c.195G>A (p.Thr65=)
|
rs377342940
|
0.00003
|
NM_031407.7(HUWE1):c.11996+9C>T
|
rs782772316
|
0.00003
|
NM_032119.4(ADGRV1):c.10051C>T (p.Leu3351=)
|
rs1445890457
|
0.00003
|
NM_032119.4(ADGRV1):c.15059C>A (p.Thr5020Lys)
|
rs753667658
|
0.00003
|
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His)
|
rs201073459
|
0.00003
|
NM_032119.4(ADGRV1):c.17857-6T>C
|
rs773357747
|
0.00003
|
NM_032119.4(ADGRV1):c.17869G>A (p.Ala5957Thr)
|
rs765800403
|
0.00003
|
NM_032119.4(ADGRV1):c.1854G>A (p.Glu618=)
|
rs376904160
|
0.00003
|
NM_032119.4(ADGRV1):c.222C>T (p.Asp74=)
|
rs181146384
|
0.00003
|
NM_032119.4(ADGRV1):c.2543G>A (p.Gly848Glu)
|
rs959132080
|
0.00003
|
NM_032119.4(ADGRV1):c.267C>T (p.Ala89=)
|
rs759771981
|
0.00003
|
NM_032119.4(ADGRV1):c.2885C>G (p.Ser962Cys)
|
rs759360751
|
0.00003
|
NM_032119.4(ADGRV1):c.3563T>C (p.Ile1188Thr)
|
rs368562997
|
0.00003
|
NM_032119.4(ADGRV1):c.5313+4A>G
|
rs748976832
|
0.00003
|
NM_032119.4(ADGRV1):c.5658A>G (p.Thr1886=)
|
rs377468788
|
0.00003
|
NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile)
|
rs764987437
|
0.00003
|
NM_054027.6(ANKH):c.27C>T (p.His9=)
|
rs199583793
|
0.00003
|
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr)
|
rs754982440
|
0.00003
|
NM_080680.3(COL11A2):c.2932G>A (p.Asp978Asn)
|
rs772537556
|
0.00003
|
NM_080680.3(COL11A2):c.3325C>T (p.Pro1109Ser)
|
rs761687232
|
0.00003
|
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln)
|
rs556002453
|
0.00003
|
NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys)
|
rs749063844
|
0.00003
|
NM_130837.3(OPA1):c.33-8T>C
|
rs370303596
|
0.00003
|
NM_130839.5(UBE3A):c.*4A>G
|
rs755581358
|
0.00003
|
NM_130839.5(UBE3A):c.582A>G (p.Ala194=)
|
rs764101035
|
0.00003
|
NM_130839.5(UBE3A):c.789C>T (p.Asn263=)
|
rs1453409055
|
0.00003
|
NM_133497.4(KCNV2):c.1086C>G (p.Arg362=)
|
rs199886720
|
0.00003
|
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr)
|
rs181546197
|
0.00003
|
NM_139058.3(ARX):c.306G>T (p.Ala102=)
|
rs587783196
|
0.00003
|
NM_144573.4(NEXN):c.249G>A (p.Glu83=)
|
rs372532824
|
0.00003
|
NM_152564.5(VPS13B):c.1296A>G (p.Thr432=)
|
rs765163542
|
0.00003
|
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=)
|
rs760564848
|
0.00003
|
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala)
|
rs112749780
|
0.00003
|
NM_152564.5(VPS13B):c.7248C>T (p.Ser2416=)
|
rs886043216
|
0.00003
|
NM_153240.5(NPHP3):c.189G>C (p.Gly63=)
|
rs750280281
|
0.00003
|
NM_153240.5(NPHP3):c.3609T>C (p.Ala1203=)
|
rs747847543
|
0.00003
|
NM_170699.3(GPBAR1):c.321C>T (p.His107=)
|
rs199941566
|
0.00003
|
NM_170707.4(LMNA):c.1311C>T (p.Ser437=)
|
rs763224059
|
0.00003
|
NM_170707.4(LMNA):c.78C>T (p.Ile26=)
|
rs373721390
|
0.00003
|
NM_170784.3(MKKS):c.1161+4G>A
|
rs761886025
|
0.00003
|
NM_181486.4(TBX5):c.828C>T (p.Ser276=)
|
rs146908258
|
0.00003
|
NM_182746.3(MCM4):c.1800+8G>A
|
rs890413153
|
0.00003
|
NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=)
|
rs138882800
|
0.00003
|
NM_182961.4(SYNE1):c.11595G>A (p.Thr3865=)
|
rs760332489
|
0.00003
|
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=)
|
rs143851739
|
0.00003
|
NM_182961.4(SYNE1):c.12930C>T (p.Asp4310=)
|
rs760209358
|
0.00003
|
NM_182961.4(SYNE1):c.13209G>A (p.Ser4403=)
|
rs773593843
|
0.00003
|
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His)
|
rs759556319
|
0.00003
|
NM_182961.4(SYNE1):c.18972+4T>C
|
rs774096623
|
0.00003
|
NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=)
|
rs750669148
|
0.00003
|
NM_182961.4(SYNE1):c.24449A>G (p.Lys8150Arg)
|
rs557350925
|
0.00003
|
NM_182961.4(SYNE1):c.3670-4A>G
|
rs377058395
|
0.00003
|
NM_182961.4(SYNE1):c.5250A>G (p.Pro1750=)
|
rs368364250
|
0.00003
|
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His)
|
rs200283244
|
0.00003
|
NM_198253.3(TERT):c.150G>A (p.Leu50=)
|
rs886044153
|
0.00003
|
NM_201384.3(PLEC):c.10729G>A (p.Gly3577Ser)
|
rs782299720
|
0.00003
|
NM_201384.3(PLEC):c.12585C>T (p.Ile4195=)
|
rs1002095432
|
0.00003
|
NM_201384.3(PLEC):c.2550C>G (p.Ala850=)
|
rs376777606
|
0.00003
|
NM_201384.3(PLEC):c.3501C>T (p.His1167=)
|
rs782038506
|
0.00003
|
NM_201384.3(PLEC):c.366T>C (p.Asn122=)
|
rs782096761
|
0.00003
|
NM_201384.3(PLEC):c.3955C>T (p.Leu1319=)
|
rs201416081
|
0.00003
|
NM_201384.3(PLEC):c.7220G>A (p.Arg2407Gln)
|
rs782618396
|
0.00003
|
NM_201384.3(PLEC):c.7592G>A (p.Arg2531His)
|
rs369729231
|
0.00003
|
NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr)
|
rs199995144
|
0.00003
|
NM_201384.3(PLEC):c.9288A>G (p.Leu3096=)
|
rs782397500
|
0.00003
|
NM_206933.4(USH2A):c.10497T>C (p.Pro3499=)
|
rs749177032
|
0.00003
|
NM_206933.4(USH2A):c.6618A>G (p.Gln2206=)
|
rs745614158
|
0.00003
|
NM_213599.3(ANO5):c.276A>G (p.Lys92=)
|
rs201678262
|
0.00003
|
NM_000035.4(ALDOB):c.465C>T (p.Ala155=)
|
rs569981883
|
0.00002
|
NM_000036.3(AMPD1):c.144G>A (p.Pro48=)
|
rs145786786
|
0.00002
|
NM_000037.4(ANK1):c.5370G>T (p.Lys1790Asn)
|
rs760157830
|
0.00002
|
NM_000038.6(APC):c.5363G>A (p.Arg1788His)
|
rs201472075
|
0.00002
|
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys)
|
rs587776466
|
0.00002
|
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg)
|
rs80359114
|
0.00002
|
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=)
|
rs587780873
|
0.00002
|
NM_000092.5(COL4A4):c.372+7A>G
|
rs1483461114
|
0.00002
|
NM_000117.3(EMD):c.662G>T (p.Arg221Leu)
|
rs782057378
|
0.00002
|
NM_000127.3(EXT1):c.2148G>A (p.Pro716=)
|
rs757499157
|
0.00002
|
NM_000128.4(F11):c.1560G>T (p.Gly520=)
|
rs794727084
|
0.00002
|
NM_000141.5(FGFR2):c.2106G>A (p.Ser702=)
|
rs794727163
|
0.00002
|
NM_000152.5(GAA):c.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
NM_000152.5(GAA):c.1560C>T (p.Asn520=)
|
rs116322271
|
0.00002
|
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000156.6(GAMT):c.189G>C (p.Arg63=)
|
rs568392459
|
0.00002
|
NM_000214.3(JAG1):c.1308C>T (p.Cys436=)
|
rs764485729
|
0.00002
|
NM_000214.3(JAG1):c.2199C>T (p.Gly733=)
|
rs756062969
|
0.00002
|
NM_000214.3(JAG1):c.489C>T (p.Pro163=)
|
rs376298235
|
0.00002
|
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=)
|
rs41307292
|
0.00002
|
NM_000257.4(MYH7):c.4689G>A (p.Leu1563=)
|
rs770477774
|
0.00002
|
NM_000260.4(MYO7A):c.1209C>T (p.Tyr403=)
|
rs782397746
|
0.00002
|
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=)
|
rs372535399
|
0.00002
|
NM_000260.4(MYO7A):c.5004C>T (p.Tyr1668=)
|
rs1479835169
|
0.00002
|
NM_000286.3(PEX12):c.570A>G (p.Ser190=)
|
rs758132842
|
0.00002
|
NM_000318.3(PEX2):c.174G>A (p.Ala58=)
|
rs150987080
|
0.00002
|
NM_000336.3(SCNN1B):c.1663C>T (p.Leu555=)
|
rs779990343
|
0.00002
|
NM_000337.6(SGCD):c.193-7A>G
|
rs747018859
|
0.00002
|
NM_000362.5(TIMP3):c.255A>G (p.Glu85=)
|
rs373801773
|
0.00002
|
NM_000368.5(TSC1):c.2077G>C (p.Asp693His)
|
rs397514800
|
0.00002
|
NM_000390.4(CHM):c.1771-8T>C
|
rs912390081
|
0.00002
|
NM_000391.4(TPP1):c.1552-9C>T
|
rs369699167
|
0.00002
|
NM_000392.5(ABCC2):c.2747+10C>T
|
rs772329652
|
0.00002
|
NM_000392.5(ABCC2):c.306C>A (p.Thr102=)
|
rs559908064
|
0.00002
|
NM_000392.5(ABCC2):c.4431G>A (p.Thr1477=)
|
rs146718433
|
0.00002
|
NM_000414.4(HSD17B4):c.1278A>T (p.Glu426Asp)
|
rs780820166
|
0.00002
|
NM_000414.4(HSD17B4):c.501A>C (p.Ala167=)
|
rs776640310
|
0.00002
|
NM_000443.4(ABCB4):c.1723C>T (p.Leu575=)
|
rs748044865
|
0.00002
|
NM_000443.4(ABCB4):c.201C>T (p.His67=)
|
rs747703354
|
0.00002
|
NM_000443.4(ABCB4):c.2811T>C (p.Tyr937=)
|
rs1461886025
|
0.00002
|
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=)
|
rs766402494
|
0.00002
|
NM_000443.4(ABCB4):c.54G>A (p.Glu18=)
|
rs141141860
|
0.00002
|
NM_000452.3(SLC10A2):c.246A>G (p.Thr82=)
|
rs761652195
|
0.00002
|
NM_000452.3(SLC10A2):c.45T>C (p.Ser15=)
|
rs374581163
|
0.00002
|
NM_000458.4(HNF1B):c.1488C>T (p.Ala496=)
|
rs773569563
|
0.00002
|
NM_000463.3(UGT1A1):c.-4C>T
|
rs752018052
|
0.00002
|
NM_000466.3(PEX1):c.2268A>G (p.Lys756=)
|
rs1434174453
|
0.00002
|
NM_000487.6(ARSA):c.930C>T (p.Gly310=)
|
rs767751622
|
0.00002
|
NM_000492.4(CFTR):c.3024C>T (p.Val1008=)
|
rs774643457
|
0.00002
|
NM_000492.4(CFTR):c.3852A>G (p.Lys1284=)
|
rs547248892
|
0.00002
|
NM_000540.3(RYR1):c.14817C>T (p.Asp4939=)
|
rs193922895
|
0.00002
|
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys)
|
rs111272095
|
0.00002
|
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=)
|
rs374115286
|
0.00002
|
NM_000540.3(RYR1):c.7615-5C>T
|
rs768008924
|
0.00002
|
NM_000543.5(SMPD1):c.102C>G (p.Gly34=)
|
rs889113421
|
0.00002
|
NM_000543.5(SMPD1):c.234C>T (p.Pro78=)
|
rs575601110
|
0.00002
|
NM_000548.5(TSC2):c.1818C>T (p.Ile606=)
|
rs547389841
|
0.00002
|
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=)
|
rs754951889
|
0.00002
|
NM_000548.5(TSC2):c.354C>G (p.Val118=)
|
rs762228318
|
0.00002
|
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=)
|
rs201599540
|
0.00002
|
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=)
|
rs150999168
|
0.00002
|
NM_000719.7(CACNA1C):c.5091+8G>A
|
rs768117202
|
0.00002
|
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=)
|
rs541967618
|
0.00002
|
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=)
|
rs757373786
|
0.00002
|
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=)
|
rs527741368
|
0.00002
|
NM_000726.5(CACNB4):c.1437G>A (p.Gln479=)
|
rs794727118
|
0.00002
|
NM_000742.4(CHRNA2):c.1270G>A (p.Ala424Thr)
|
rs767138285
|
0.00002
|
NM_001015877.2(PHF6):c.688A>G (p.Ile230Val)
|
rs794727879
|
0.00002
|
NM_001025295.3(IFITM5):c.100C>T (p.Arg34Ter)
|
rs531009160
|
0.00002
|
NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp)
|
rs201706430
|
0.00002
|
NM_001034850.3(RETREG1):c.1182T>C (p.Ala394=)
|
rs886043753
|
0.00002
|
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=)
|
rs398123540
|
0.00002
|
NM_001039141.3(TRIOBP):c.6472+19_6472+20insA
|
rs397769084
|
0.00002
|
NM_001040167.2(LFNG):c.774C>T (p.Gly258=)
|
rs770507072
|
0.00002
|
NM_001077525.3(MTMR14):c.540G>A (p.Glu180=)
|
rs993417750
|
0.00002
|
NM_001079802.2(FKTN):c.30G>A (p.Leu10=)
|
rs202047149
|
0.00002
|
NM_001079802.2(FKTN):c.63G>C (p.Leu21=)
|
rs766642997
|
0.00002
|
NM_001101426.4(CRPPA):c.402A>G (p.Leu134=)
|
rs368815582
|
0.00002
|
NM_001101426.4(CRPPA):c.52C>T (p.Leu18=)
|
rs886043287
|
0.00002
|
NM_001101426.4(CRPPA):c.825G>A (p.Ser275=)
|
rs766874330
|
0.00002
|
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr)
|
rs886044859
|
0.00002
|
NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=)
|
rs398123615
|
0.00002
|
NM_001110556.2(FLNA):c.623-7G>A
|
rs782670288
|
0.00002
|
NM_001110556.2(FLNA):c.7794G>A (p.Arg2598=)
|
rs782372740
|
0.00002
|
NM_001110792.2(MECP2):c.1410C>T (p.Arg470=)
|
rs781825661
|
0.00002
|
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)
|
rs587783139
|
0.00002
|
NM_001111125.3(IQSEC2):c.1695C>T (p.Asp565=)
|
rs886044781
|
0.00002
|
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)
|
rs572722130
|
0.00002
|
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=)
|
rs749587119
|
0.00002
|
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys)
|
rs368482631
|
0.00002
|
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=)
|
rs530361602
|
0.00002
|
NM_001159699.2(FHL1):c.447G>A (p.Lys149=)
|
rs768142579
|
0.00002
|
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser)
|
rs565184120
|
0.00002
|
NM_001165963.4(SCN1A):c.4284+7G>A
|
rs745918943
|
0.00002
|
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)
|
rs769285695
|
0.00002
|
NM_001177316.2(SLC34A3):c.449-3C>T
|
rs757092241
|
0.00002
|
NM_001184880.2(PCDH19):c.2721T>C (p.Ser907=)
|
rs376946966
|
0.00002
|
NM_001193315.2(VIPAS39):c.1005A>T (p.Thr335=)
|
rs765454382
|
0.00002
|
NM_001193315.2(VIPAS39):c.1164C>T (p.Ala388=)
|
rs886043868
|
0.00002
|
NM_001256317.3(TMPRSS3):c.999C>T (p.Pro333=)
|
rs192630206
|
0.00002
|
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp)
|
rs367926247
|
0.00002
|
NM_001267550.2(TTN):c.103302T>C (p.Tyr34434=)
|
rs773408387
|
0.00002
|
NM_001267550.2(TTN):c.107517T>G (p.Ser35839Arg)
|
rs776981475
|
0.00002
|
NM_001267550.2(TTN):c.1450G>A (p.Asp484Asn)
|
rs768211726
|
0.00002
|
NM_001267550.2(TTN):c.15430G>A (p.Glu5144Lys)
|
rs766612317
|
0.00002
|
NM_001267550.2(TTN):c.16738A>G (p.Asn5580Asp)
|
rs376598696
|
0.00002
|
NM_001267550.2(TTN):c.16959T>C (p.Asp5653=)
|
rs770260995
|
0.00002
|
NM_001267550.2(TTN):c.17346C>T (p.Asn5782=)
|
rs535281449
|
0.00002
|
NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys)
|
rs753136638
|
0.00002
|
NM_001267550.2(TTN):c.18720A>G (p.Arg6240=)
|
rs201395913
|
0.00002
|
NM_001267550.2(TTN):c.18777C>A (p.Thr6259=)
|
rs750180579
|
0.00002
|
NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val)
|
rs761223583
|
0.00002
|
NM_001267550.2(TTN):c.23076C>T (p.Cys7692=)
|
rs769505705
|
0.00002
|
NM_001267550.2(TTN):c.2649C>T (p.Phe883=)
|
rs775588479
|
0.00002
|
NM_001267550.2(TTN):c.26557G>C (p.Val8853Leu)
|
rs757381520
|
0.00002
|
NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu)
|
rs781351100
|
0.00002
|
NM_001267550.2(TTN):c.27592C>G (p.Gln9198Glu)
|
rs72648995
|
0.00002
|
NM_001267550.2(TTN):c.29219A>G (p.Asn9740Ser)
|
rs753121692
|
0.00002
|
NM_001267550.2(TTN):c.29937C>T (p.Ile9979=)
|
rs878892843
|
0.00002
|
NM_001267550.2(TTN):c.32471-6C>T
|
rs763361422
|
0.00002
|
NM_001267550.2(TTN):c.39099T>C (p.Pro13033=)
|
rs755793186
|
0.00002
|
NM_001267550.2(TTN):c.39368C>T (p.Ala13123Val)
|
rs761828404
|
0.00002
|
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=)
|
rs398124450
|
0.00002
|
NM_001267550.2(TTN):c.42687C>T (p.Ala14229=)
|
rs775889693
|
0.00002
|
NM_001267550.2(TTN):c.4284T>A (p.Ser1428=)
|
rs771454835
|
0.00002
|
NM_001267550.2(TTN):c.42892G>A (p.Glu14298Lys)
|
rs778634417
|
0.00002
|
NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=)
|
rs1455525236
|
0.00002
|
NM_001267550.2(TTN):c.47766C>T (p.Thr15922=)
|
rs757006832
|
0.00002
|
NM_001267550.2(TTN):c.49032G>A (p.Val16344=)
|
rs587780980
|
0.00002
|
NM_001267550.2(TTN):c.50531T>C (p.Leu16844Pro)
|
rs764983586
|
0.00002
|
NM_001267550.2(TTN):c.51961C>T (p.Arg17321Cys)
|
rs752764827
|
0.00002
|
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser)
|
rs749312983
|
0.00002
|
NM_001267550.2(TTN):c.53443A>G (p.Ile17815Val)
|
rs368065637
|
0.00002
|
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)
|
rs727503693
|
0.00002
|
NM_001267550.2(TTN):c.54314G>A (p.Arg18105His)
|
rs760383112
|
0.00002
|
NM_001267550.2(TTN):c.574C>T (p.Leu192=)
|
rs767983460
|
0.00002
|
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)
|
rs727505101
|
0.00002
|
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)
|
rs371514555
|
0.00002
|
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala)
|
rs397517693
|
0.00002
|
NM_001267550.2(TTN):c.65300T>C (p.Ile21767Thr)
|
rs762578274
|
0.00002
|
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=)
|
rs746956869
|
0.00002
|
NM_001267550.2(TTN):c.69204C>A (p.Gly23068=)
|
rs188919648
|
0.00002
|
NM_001267550.2(TTN):c.69227T>C (p.Ile23076Thr)
|
rs765930349
|
0.00002
|
NM_001267550.2(TTN):c.6945A>G (p.Thr2315=)
|
rs879103814
|
0.00002
|
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln)
|
rs201448988
|
0.00002
|
NM_001267550.2(TTN):c.70044C>T (p.Ala23348=)
|
rs771534964
|
0.00002
|
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=)
|
rs587780986
|
0.00002
|
NM_001267550.2(TTN):c.70260G>A (p.Pro23420=)
|
rs72646887
|
0.00002
|
NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp)
|
rs760509116
|
0.00002
|
NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile)
|
rs752648041
|
0.00002
|
NM_001267550.2(TTN):c.71903A>C (p.Asn23968Thr)
|
rs769320596
|
0.00002
|
NM_001267550.2(TTN):c.732C>T (p.Ala244=)
|
rs761859812
|
0.00002
|
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)
|
rs373527654
|
0.00002
|
NM_001267550.2(TTN):c.7524T>C (p.His2508=)
|
rs2291307
|
0.00002
|
NM_001267550.2(TTN):c.76482C>T (p.Asp25494=)
|
rs370908118
|
0.00002
|
NM_001267550.2(TTN):c.79545C>T (p.Gly26515=)
|
rs761713195
|
0.00002
|
NM_001267550.2(TTN):c.81850G>A (p.Val27284Ile)
|
rs746222222
|
0.00002
|
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp)
|
rs749852593
|
0.00002
|
NM_001267550.2(TTN):c.85624A>G (p.Ile28542Val)
|
rs554841820
|
0.00002
|
NM_001267550.2(TTN):c.86045C>T (p.Pro28682Leu)
|
rs760467197
|
0.00002
|
NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg)
|
rs532818379
|
0.00002
|
NM_001267550.2(TTN):c.90332T>C (p.Leu30111Pro)
|
rs368516973
|
0.00002
|
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val)
|
rs727504501
|
0.00002
|
NM_001267550.2(TTN):c.92612T>C (p.Val30871Ala)
|
rs756610221
|
0.00002
|
NM_001267550.2(TTN):c.96039T>C (p.Asp32013=)
|
rs1553518883
|
0.00002
|
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu)
|
rs140025425
|
0.00002
|
NM_001305581.2(LRMDA):c.602-8A>T
|
rs565236615
|
0.00002
|
NM_001330078.2(NRXN1):c.1320+10G>A
|
rs113028018
|
0.00002
|
NM_001330260.2(SCN8A):c.3060G>A (p.Gln1020=)
|
rs528718802
|
0.00002
|
NM_001330260.2(SCN8A):c.4719G>A (p.Met1573Ile)
|
rs780940263
|
0.00002
|
NM_001349206.2(LPIN1):c.1044C>T (p.Ser348=)
|
rs775088748
|
0.00002
|
NM_001351132.2(PEX5):c.1111-4C>G
|
rs376699778
|
0.00002
|
NM_001353214.3(DYM):c.288-10G>A
|
rs557407004
|
0.00002
|
NM_001358921.2(COQ2):c.868C>T (p.Leu290=)
|
rs375066516
|
0.00002
|
NM_001374353.1(GLI2):c.1481C>T (p.Ser494Leu)
|
rs372925840
|
0.00002
|
NM_001374385.1(ATP8B1):c.1029+5T>C
|
rs200663890
|
0.00002
|
NM_001374385.1(ATP8B1):c.3532-8C>G
|
rs1322207888
|
0.00002
|
NM_001374385.1(ATP8B1):c.3553T>C (p.Leu1185=)
|
rs751410046
|
0.00002
|
NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=)
|
rs749647281
|
0.00002
|
NM_001378414.1(HDAC4):c.339+10G>A
|
rs199918439
|
0.00002
|
NM_001378454.1(ALMS1):c.3432C>T (p.Tyr1144=)
|
rs768929630
|
0.00002
|
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=)
|
rs775482774
|
0.00002
|
NM_001378454.1(ALMS1):c.9050A>G (p.Asn3017Ser)
|
rs768218725
|
0.00002
|
NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=)
|
rs368116362
|
0.00002
|
NM_001378615.1(CC2D2A):c.3054G>A (p.Lys1018=)
|
rs377575861
|
0.00002
|
NM_001384140.1(PCDH15):c.3009+7G>A
|
rs201161336
|
0.00002
|
NM_001384140.1(PCDH15):c.4049G>A (p.Arg1350His)
|
rs752356781
|
0.00002
|
NM_001457.4(FLNB):c.6497C>T (p.Thr2166Met)
|
rs199939739
|
0.00002
|
NM_001458.5(FLNC):c.2008-7C>T
|
rs767576240
|
0.00002
|
NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val)
|
rs200233856
|
0.00002
|
NM_001458.5(FLNC):c.8070G>T (p.Arg2690=)
|
rs373087529
|
0.00002
|
NM_001701.4(BAAT):c.102A>T (p.Ala34=)
|
rs774722346
|
0.00002
|
NM_001701.4(BAAT):c.903A>T (p.Thr301=)
|
rs767910529
|
0.00002
|
NM_001793.6(CDH3):c.2178G>A (p.Pro726=)
|
rs398123626
|
0.00002
|
NM_001844.5(COL2A1):c.1743T>C (p.Pro581=)
|
rs755517458
|
0.00002
|
NM_001845.6(COL4A1):c.1897+7C>G
|
rs773791331
|
0.00002
|
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=)
|
rs745847824
|
0.00002
|
NM_001848.3(COL6A1):c.2712C>T (p.Val904=)
|
rs780582491
|
0.00002
|
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser)
|
rs201835072
|
0.00002
|
NM_001848.3(COL6A1):c.717C>T (p.Ile239=)
|
rs775349013
|
0.00002
|
NM_001848.3(COL6A1):c.859-18T>A
|
rs398123641
|
0.00002
|
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=)
|
rs759646708
|
0.00002
|
NM_001853.4(COL9A3):c.1881C>T (p.Pro627=)
|
rs372602506
|
0.00002
|
NM_001927.4(DES):c.708C>T (p.Ile236=)
|
rs886044078
|
0.00002
|
NM_001943.5(DSG2):c.84C>G (p.Val28=)
|
rs397516711
|
0.00002
|
NM_001999.4(FBN2):c.1194C>T (p.Ile398=)
|
rs766004910
|
0.00002
|
NM_002335.4(LRP5):c.738C>T (p.Ser246=)
|
rs768638466
|
0.00002
|
NM_002351.5(SH2D1A):c.53A>G (p.Lys18Arg)
|
rs1303880423
|
0.00002
|
NM_002397.5(MEF2C):c.489A>G (p.Ser163=)
|
rs781632867
|
0.00002
|
NM_002471.4(MYH6):c.2217T>C (p.Asp739=)
|
rs374177807
|
0.00002
|
NM_002473.6(MYH9):c.108C>T (p.Ser36=)
|
rs764743124
|
0.00002
|
NM_002485.5(NBN):c.120G>T (p.Ser40=)
|
rs774989816
|
0.00002
|
NM_002547.3(OPHN1):c.360G>A (p.Arg120=)
|
rs727504062
|
0.00002
|
NM_002693.3(POLG):c.1929T>C (p.Ala643=)
|
rs745800212
|
0.00002
|
NM_002693.3(POLG):c.3630C>T (p.Tyr1210=)
|
rs139562274
|
0.00002
|
NM_002880.4(RAF1):c.639T>C (p.Thr213=)
|
rs397516823
|
0.00002
|
NM_003482.4(KMT2D):c.6204G>A (p.Arg2068=)
|
rs532098737
|
0.00002
|
NM_003659.4(AGPS):c.549A>G (p.Val183=)
|
rs774279058
|
0.00002
|
NM_004006.3(DMD):c.10677T>C (p.Ile3559=)
|
rs765950547
|
0.00002
|
NM_004006.3(DMD):c.1573G>A (p.Ala525Thr)
|
rs754158494
|
0.00002
|
NM_004006.3(DMD):c.159C>A (p.Leu53=)
|
rs762245872
|
0.00002
|
NM_004006.3(DMD):c.2210G>A (p.Arg737His)
|
rs773358704
|
0.00002
|
NM_004006.3(DMD):c.2828G>A (p.Arg943His)
|
rs398123911
|
0.00002
|
NM_004006.3(DMD):c.2967G>T (p.Leu989=)
|
rs760097427
|
0.00002
|
NM_004006.3(DMD):c.3327T>C (p.Asn1109=)
|
rs775591219
|
0.00002
|
NM_004006.3(DMD):c.4345-8C>T
|
rs886044675
|
0.00002
|
NM_004006.3(DMD):c.4851T>G (p.Thr1617=)
|
rs143719666
|
0.00002
|
NM_004006.3(DMD):c.579A>T (p.Thr193=)
|
rs766344083
|
0.00002
|
NM_004006.3(DMD):c.693C>T (p.Tyr231=)
|
rs374222301
|
0.00002
|
NM_004006.3(DMD):c.7455G>T (p.Trp2485Cys)
|
rs765207227
|
0.00002
|
NM_004006.3(DMD):c.7585G>C (p.Glu2529Gln)
|
rs771509836
|
0.00002
|
NM_004006.3(DMD):c.7602C>T (p.Ala2534=)
|
rs748309027
|
0.00002
|
NM_004006.3(DMD):c.8147A>G (p.Gln2716Arg)
|
rs750640802
|
0.00002
|
NM_004006.3(DMD):c.8520A>G (p.Ala2840=)
|
rs767304792
|
0.00002
|
NM_004006.3(DMD):c.8890G>T (p.Gly2964Cys)
|
rs368114420
|
0.00002
|
NM_004006.3(DMD):c.960+9A>G
|
rs886038537
|
0.00002
|
NM_004260.4(RECQL4):c.969C>T (p.Ser323=)
|
rs745658597
|
0.00002
|
NM_004369.4(COL6A3):c.2196G>A (p.Thr732=)
|
rs768242367
|
0.00002
|
NM_004369.4(COL6A3):c.2497+9C>A
|
rs774198344
|
0.00002
|
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=)
|
rs542411896
|
0.00002
|
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val)
|
rs563813743
|
0.00002
|
NM_004369.4(COL6A3):c.9345G>A (p.Pro3115=)
|
rs748814297
|
0.00002
|
NM_004463.3(FGD1):c.771C>T (p.Pro257=)
|
rs757589705
|
0.00002
|
NM_004530.6(MMP2):c.105C>T (p.Ile35=)
|
rs764055331
|
0.00002
|
NM_004560.4(ROR2):c.1236C>T (p.Ile412=)
|
rs752218712
|
0.00002
|
NM_004813.4(PEX16):c.885C>T (p.Ser295=)
|
rs200415017
|
0.00002
|
NM_004817.4(TJP2):c.2832G>A (p.Pro944=)
|
rs191634088
|
0.00002
|
NM_004817.4(TJP2):c.972G>T (p.Gly324=)
|
rs372333417
|
0.00002
|
NM_004820.5(CYP7B1):c.129C>T (p.Pro43=)
|
rs1471365409
|
0.00002
|
NM_005045.4(RELN):c.1278C>T (p.Ser426=)
|
rs755465811
|
0.00002
|
NM_005045.4(RELN):c.226+8C>T
|
rs369454305
|
0.00002
|
NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr)
|
rs371614773
|
0.00002
|
NM_005249.5(FOXG1):c.326C>T (p.Pro109Leu)
|
rs398124203
|
0.00002
|
NM_005477.3(HCN4):c.2370T>C (p.Ser790=)
|
rs747648596
|
0.00002
|
NM_005633.4(SOS1):c.39A>G (p.Glu13=)
|
rs763337946
|
0.00002
|
NM_005670.4(EPM2A):c.620G>A (p.Arg207His)
|
rs571938170
|
0.00002
|
NM_005857.5(ZMPSTE24):c.750G>A (p.Thr250=)
|
rs750229142
|
0.00002
|
NM_005989.4(AKR1D1):c.336T>C (p.Asp112=)
|
rs200261541
|
0.00002
|
NM_006005.3(WFS1):c.1416C>A (p.Pro472=)
|
rs530734300
|
0.00002
|
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser)
|
rs775353413
|
0.00002
|
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met)
|
rs74323945
|
0.00002
|
NM_006662.3(SRCAP):c.6576G>A (p.Glu2192=)
|
rs886044120
|
0.00002
|
NM_006899.5(IDH3B):c.1011-9T>C
|
rs746209011
|
0.00002
|
NM_006922.4(SCN3A):c.1773T>C (p.Asn591=)
|
rs76144052
|
0.00002
|
NM_007254.4(PNKP):c.1030-5C>T
|
rs374745816
|
0.00002
|
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=)
|
rs786201784
|
0.00002
|
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp)
|
rs80356876
|
0.00002
|
NM_007294.4(BRCA1):c.522A>G (p.Gln174=)
|
rs765432756
|
0.00002
|
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)
|
rs80357323
|
0.00002
|
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)
|
rs730881018
|
0.00002
|
NM_012210.4(TRIM32):c.1140C>T (p.Thr380=)
|
rs142715198
|
0.00002
|
NM_012210.4(TRIM32):c.1530A>G (p.Leu510=)
|
rs145728860
|
0.00002
|
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp)
|
rs572052810
|
0.00002
|
NM_012469.4(PRPF6):c.171G>C (p.Gly57=)
|
rs749669162
|
0.00002
|
NM_013382.7(POMT2):c.1654-8T>G
|
rs780532724
|
0.00002
|
NM_014140.4(SMARCAL1):c.2778G>A (p.Leu926=)
|
rs373335368
|
0.00002
|
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys)
|
rs76475298
|
0.00002
|
NM_014141.6(CNTNAP2):c.3132G>A (p.Pro1044=)
|
rs761663690
|
0.00002
|
NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=)
|
rs747257110
|
0.00002
|
NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=)
|
rs144494809
|
0.00002
|
NM_014251.3(SLC25A13):c.1695C>T (p.Cys565=)
|
rs765192701
|
0.00002
|
NM_014363.6(SACS):c.6240T>C (p.Val2080=)
|
rs550680855
|
0.00002
|
NM_014363.6(SACS):c.7466C>A (p.Pro2489His)
|
rs766553685
|
0.00002
|
NM_014780.5(CUL7):c.3861C>T (p.Ala1287=)
|
rs745678508
|
0.00002
|
NM_014845.6(FIG4):c.1583+3A>G
|
rs866431185
|
0.00002
|
NM_015102.5(NPHP4):c.3348C>T (p.Ile1116=)
|
rs751938743
|
0.00002
|
NM_015294.6(TRIM37):c.2280G>A (p.Ser760=)
|
rs767616734
|
0.00002
|
NM_015506.3(MMACHC):c.603T>C (p.Arg201=)
|
rs398124294
|
0.00002
|
NM_017777.4(MKS1):c.279C>T (p.Tyr93=)
|
rs187870415
|
0.00002
|
NM_017777.4(MKS1):c.644+9C>T
|
rs754404940
|
0.00002
|
NM_017780.4(CHD7):c.7346G>C (p.Arg2449Thr)
|
rs727503870
|
0.00002
|
NM_018006.5(TRMU):c.18C>T (p.His6=)
|
rs527315924
|
0.00002
|
NM_018006.5(TRMU):c.83-4G>A
|
rs369925943
|
0.00002
|
NM_018136.5(ASPM):c.2103G>A (p.Gln701=)
|
rs370972881
|
0.00002
|
NM_018136.5(ASPM):c.2205G>A (p.Glu735=)
|
rs755350285
|
0.00002
|
NM_018136.5(ASPM):c.6849C>G (p.Leu2283=)
|
rs756622578
|
0.00002
|
NM_018668.5(VPS33B):c.177+5T>A
|
rs747146575
|
0.00002
|
NM_018668.5(VPS33B):c.198A>G (p.Leu66=)
|
rs1416595652
|
0.00002
|
NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=)
|
rs759272412
|
0.00002
|
NM_020754.4(ARHGAP31):c.2412G>A (p.Pro804=)
|
rs776194035
|
0.00002
|
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp)
|
rs532620254
|
0.00002
|
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln)
|
rs752032951
|
0.00002
|
NM_022124.6(CDH23):c.996G>A (p.Thr332=)
|
rs727504715
|
0.00002
|
NM_022436.3(ABCG5):c.282G>A (p.Thr94=)
|
rs756339433
|
0.00002
|
NM_022436.3(ABCG5):c.408C>T (p.Asp136=)
|
rs141386201
|
0.00002
|
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile)
|
rs777411661
|
0.00002
|
NM_022436.3(ABCG5):c.804C>T (p.Phe268=)
|
rs554183818
|
0.00002
|
NM_022437.3(ABCG8):c.1557C>T (p.Ala519=)
|
rs368114257
|
0.00002
|
NM_022437.3(ABCG8):c.1596C>T (p.Phe532=)
|
rs374820261
|
0.00002
|
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser)
|
rs548098742
|
0.00002
|
NM_022437.3(ABCG8):c.2013A>G (p.Gln671=)
|
rs373862876
|
0.00002
|
NM_022437.3(ABCG8):c.695-7T>C
|
rs374648568
|
0.00002
|
NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp)
|
rs771467409
|
0.00002
|
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala)
|
rs754309202
|
0.00002
|
NM_024408.4(NOTCH2):c.4002C>G (p.Pro1334=)
|
rs1390174762
|
0.00002
|
NM_024596.5(MCPH1):c.671-3C>T
|
rs374793979
|
0.00002
|
NM_024757.5(EHMT1):c.183C>T (p.Ser61=)
|
rs774448433
|
0.00002
|
NM_025193.4(HSD3B7):c.431+7_431+8insA
|
rs1343784849
|
0.00002
|
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=)
|
rs772254851
|
0.00002
|
NM_030665.4(RAI1):c.660C>T (p.Ser220=)
|
rs756623054
|
0.00002
|
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile)
|
rs200871004
|
0.00002
|
NM_032119.4(ADGRV1):c.14931A>G (p.Leu4977=)
|
rs760841840
|
0.00002
|
NM_032119.4(ADGRV1):c.4975G>A (p.Glu1659Lys)
|
rs775893405
|
0.00002
|
NM_032119.4(ADGRV1):c.5835G>A (p.Lys1945=)
|
rs569899625
|
0.00002
|
NM_032119.4(ADGRV1):c.6524T>C (p.Val2175Ala)
|
rs771811961
|
0.00002
|
NM_032119.4(ADGRV1):c.8004C>T (p.Asp2668=)
|
rs369591434
|
0.00002
|
NM_032409.3(PINK1):c.434C>T (p.Thr145Met)
|
rs45604240
|
0.00002
|
NM_032575.3(GLIS2):c.15C>T (p.Asp5=)
|
rs751898309
|
0.00002
|
NM_033380.3(COL4A5):c.2295A>G (p.Pro765=)
|
rs141247183
|
0.00002
|
NM_078470.6(COX15):c.933C>G (p.Ile311Met)
|
rs556026559
|
0.00002
|
NM_080680.3(COL11A2):c.1380G>A (p.Gly460=)
|
rs373168555
|
0.00002
|
NM_080680.3(COL11A2):c.2637T>C (p.Pro879=)
|
rs199677738
|
0.00002
|
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=)
|
rs752823488
|
0.00002
|
NM_080680.3(COL11A2):c.844G>A (p.Val282Met)
|
rs146432857
|
0.00002
|
NM_080916.3(DGUOK):c.337T>C (p.Phe113Leu)
|
rs141810774
|
0.00002
|
NM_133433.4(NIPBL):c.126T>C (p.Phe42=)
|
rs727504046
|
0.00002
|
NM_133642.5(LARGE1):c.1132-8C>T
|
rs748964975
|
0.00002
|
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=)
|
rs372629986
|
0.00002
|
NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=)
|
rs1303599332
|
0.00002
|
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=)
|
rs375603741
|
0.00002
|
NM_138694.4(PKHD1):c.668-3C>T
|
rs775002568
|
0.00002
|
NM_138694.4(PKHD1):c.778+10C>G
|
rs1365502451
|
0.00002
|
NM_138694.4(PKHD1):c.873C>T (p.Thr291=)
|
rs769773725
|
0.00002
|
NM_139058.3(ARX):c.1272G>A (p.Pro424=)
|
rs398124507
|
0.00002
|
NM_139058.3(ARX):c.300G>A (p.Ala100=)
|
rs797045294
|
0.00002
|
NM_139319.3(SLC17A8):c.1578C>T (p.Asp526=)
|
rs141294063
|
0.00002
|
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His)
|
rs771667880
|
0.00002
|
NM_153240.5(NPHP3):c.1357C>T (p.Leu453=)
|
rs535110862
|
0.00002
|
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=)
|
rs769832219
|
0.00002
|
NM_170707.4(LMNA):c.1047G>A (p.Arg349=)
|
rs147015659
|
0.00002
|
NM_170707.4(LMNA):c.1098G>A (p.Lys366=)
|
rs57901307
|
0.00002
|
NM_170707.4(LMNA):c.1185G>A (p.Ser395=)
|
rs397517890
|
0.00002
|
NM_170707.4(LMNA):c.870G>A (p.Glu290=)
|
rs747275587
|
0.00002
|
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=)
|
rs552807375
|
0.00002
|
NM_173495.3(PTCHD1):c.2041G>A (p.Val681Ile)
|
rs150912089
|
0.00002
|
NM_181332.3(NLGN4X):c.579C>T (p.Tyr193=)
|
rs398124366
|
0.00002
|
NM_182961.4(SYNE1):c.11001C>T (p.Asp3667=)
|
rs750318922
|
0.00002
|
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln)
|
rs150604289
|
0.00002
|
NM_182961.4(SYNE1):c.3837+8T>C
|
rs377391406
|
0.00002
|
NM_182961.4(SYNE1):c.581+10A>G
|
rs771573516
|
0.00002
|
NM_182961.4(SYNE1):c.9933C>T (p.Ser3311=)
|
rs759403157
|
0.00002
|
NM_201384.3(PLEC):c.4117C>T (p.Arg1373Trp)
|
rs782378494
|
0.00002
|
NM_201384.3(PLEC):c.537A>G (p.Arg179=)
|
rs782604399
|
0.00002
|
NM_201384.3(PLEC):c.678G>A (p.Ala226=)
|
rs782369854
|
0.00002
|
NM_201384.3(PLEC):c.7741C>T (p.Arg2581Trp)
|
rs782485083
|
0.00002
|
NM_201384.3(PLEC):c.825C>T (p.Asn275=)
|
rs113133985
|
0.00002
|
NM_206933.4(USH2A):c.11124C>G (p.Pro3708=)
|
rs773828586
|
0.00002
|
NM_206933.4(USH2A):c.3887T>C (p.Val1296Ala)
|
rs552551256
|
0.00002
|
NM_206933.4(USH2A):c.4071G>A (p.Thr1357=)
|
rs745962568
|
0.00002
|
NM_206933.4(USH2A):c.792G>A (p.Glu264=)
|
rs886043440
|
0.00002
|
NM_213599.3(ANO5):c.1689T>C (p.Phe563=)
|
rs527322470
|
0.00002
|
NC_000002.12:g.178728782T>C
|
rs1025136671
|
0.00001
|
NC_000007.14:g.24744705G>A
|
rs754443945
|
0.00001
|
NM_000020.3(ACVRL1):c.303G>A (p.Leu101=)
|
rs376417482
|
0.00001
|
NM_000051.4(ATM):c.2377-6T>A
|
rs876660963
|
0.00001
|
NM_000051.4(ATM):c.2922-8T>A
|
rs545892367
|
0.00001
|
NM_000051.4(ATM):c.8987+3G>A
|
rs56360226
|
0.00001
|
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)
|
rs375007352
|
0.00001
|
NM_000059.4(BRCA2):c.3880T>C (p.Leu1294=)
|
rs786201236
|
0.00001
|
NM_000059.4(BRCA2):c.6288T>G (p.Pro2096=)
|
rs372527810
|
0.00001
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00001
|
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)
|
rs80359127
|
0.00001
|
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=)
|
rs766405190
|
0.00001
|
NM_000079.4(CHRNA1):c.204G>A (p.Gln68=)
|
rs886043372
|
0.00001
|
NM_000082.4(ERCC8):c.-3G>A
|
rs199968351
|
0.00001
|
NM_000082.4(ERCC8):c.42C>T (p.Asp14=)
|
rs886043215
|
0.00001
|
NM_000082.4(ERCC8):c.637T>C (p.Leu213=)
|
rs752757232
|
0.00001
|
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=)
|
rs779337831
|
0.00001
|
NM_000088.4(COL1A1):c.3060C>T (p.Ala1020=)
|
rs751239116
|
0.00001
|
NM_000088.4(COL1A1):c.3207+8G>T
|
rs866785621
|
0.00001
|
NM_000088.4(COL1A1):c.3906C>T (p.Pro1302=)
|
rs188887858
|
0.00001
|
NM_000089.4(COL1A2):c.2944-4A>T
|
rs143220941
|
0.00001
|
NM_000090.4(COL3A1):c.792A>G (p.Gly264=)
|
rs113304344
|
0.00001
|
NM_000092.5(COL4A4):c.264A>G (p.Ser88=)
|
rs746574978
|
0.00001
|
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=)
|
rs376865199
|
0.00001
|
NM_000093.5(COL5A1):c.2593-3C>T
|
rs199895142
|
0.00001
|
NM_000095.3(COMP):c.1110G>A (p.Ala370=)
|
rs780972997
|
0.00001
|
NM_000117.3(EMD):c.149C>A (p.Pro50His)
|
rs782021157
|
0.00001
|
NM_000117.3(EMD):c.385G>A (p.Ala129Thr)
|
rs782768362
|
0.00001
|
NM_000124.4(ERCC6):c.1452C>T (p.Asp484=)
|
rs762734699
|
0.00001
|
NM_000124.4(ERCC6):c.1888T>C (p.Leu630=)
|
rs747204355
|
0.00001
|
NM_000124.4(ERCC6):c.813C>T (p.Phe271=)
|
rs764319566
|
0.00001
|
NM_000137.4(FAH):c.237G>A (p.Lys79=)
|
rs1490117712
|
0.00001
|
NM_000142.5(FGFR3):c.1263A>G (p.Arg421=)
|
rs866774930
|
0.00001
|
NM_000142.5(FGFR3):c.150C>T (p.Val50=)
|
rs750641928
|
0.00001
|
NM_000142.5(FGFR3):c.666C>T (p.Asp222=)
|
rs201081464
|
0.00001
|
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
|
rs138262940
|
0.00001
|
NM_000152.5(GAA):c.1347G>A (p.Ser449=)
|
rs756938942
|
0.00001
|
NM_000152.5(GAA):c.1410C>T (p.Asn470=)
|
rs886043068
|
0.00001
|
NM_000152.5(GAA):c.1842G>A (p.Thr614=)
|
rs373955374
|
0.00001
|
NM_000152.5(GAA):c.2391C>T (p.Ala797=)
|
rs767494597
|
0.00001
|
NM_000152.5(GAA):c.444C>T (p.Tyr148=)
|
rs886043112
|
0.00001
|
NM_000152.5(GAA):c.615G>A (p.Pro205=)
|
rs141427808
|
0.00001
|
NM_000152.5(GAA):c.692+9T>C
|
rs367661167
|
0.00001
|
NM_000152.5(GAA):c.702G>A (p.Thr234=)
|
rs755337511
|
0.00001
|
NM_000152.5(GAA):c.834G>A (p.Leu278=)
|
rs776314424
|
0.00001
|
NM_000152.5(GAA):c.900G>A (p.Ala300=)
|
rs759425304
|
0.00001
|
NM_000155.4(GALT):c.564+7G>A
|
rs760189807
|
0.00001
|
NM_000163.5(GHR):c.1686A>G (p.Gln562=)
|
rs145428904
|
0.00001
|
NM_000169.3(GLA):c.247G>A (p.Asp83Asn)
|
rs782722577
|
0.00001
|
NM_000179.3(MSH6):c.742C>G (p.Arg248Gly)
|
rs63749980
|
0.00001
|
NM_000180.4(GUCY2D):c.1851G>A (p.Val617=)
|
rs754581545
|
0.00001
|
NM_000214.3(JAG1):c.1101C>T (p.Thr367=)
|
rs766771784
|
0.00001
|
NM_000214.3(JAG1):c.1704C>T (p.Arg568=)
|
rs144985667
|
0.00001
|
NM_000214.3(JAG1):c.1866G>A (p.Thr622=)
|
rs140624746
|
0.00001
|
NM_000214.3(JAG1):c.1971C>T (p.Asp657=)
|
rs368661822
|
0.00001
|
NM_000214.3(JAG1):c.2148C>T (p.Asn716=)
|
rs550565756
|
0.00001
|
NM_000214.3(JAG1):c.2451C>T (p.Cys817=)
|
rs747532570
|
0.00001
|
NM_000214.3(JAG1):c.2739C>T (p.Ser913=)
|
rs766479402
|
0.00001
|
NM_000214.3(JAG1):c.3342C>T (p.Asn1114=)
|
rs759853433
|
0.00001
|
NM_000214.3(JAG1):c.702C>T (p.Cys234=)
|
rs202109974
|
0.00001
|
NM_000214.3(JAG1):c.915G>A (p.Pro305=)
|
rs371165309
|
0.00001
|
NM_000231.3(SGCG):c.1-8C>T
|
rs745599370
|
0.00001
|
NM_000231.3(SGCG):c.267A>G (p.Pro89=)
|
rs149595403
|
0.00001
|
NM_000235.4(LIPA):c.1056C>T (p.Asp352=)
|
rs1564748504
|
0.00001
|
NM_000235.4(LIPA):c.1128C>T (p.Asp376=)
|
rs200420117
|
0.00001
|
NM_000235.4(LIPA):c.279T>C (p.Ser93=)
|
rs1011619050
|
0.00001
|
NM_000235.4(LIPA):c.870G>A (p.Val290=)
|
rs756950169
|
0.00001
|
NM_000249.4(MLH1):c.222T>C (p.Asp74=)
|
rs755073786
|
0.00001
|
NM_000251.3(MSH2):c.-9G>C
|
rs547444746
|
0.00001
|
NM_000257.4(MYH7):c.2472C>T (p.Val824=)
|
rs397516150
|
0.00001
|
NM_000257.4(MYH7):c.4680G>A (p.Arg1560=)
|
rs771236158
|
0.00001
|
NM_000260.4(MYO7A):c.2025C>T (p.Arg675=)
|
rs797044658
|
0.00001
|
NM_000260.4(MYO7A):c.3582C>T (p.Leu1194=)
|
rs886044828
|
0.00001
|
NM_000260.4(MYO7A):c.3927G>T (p.Val1309=)
|
rs181729570
|
0.00001
|
NM_000260.4(MYO7A):c.4441+8G>A
|
rs766743441
|
0.00001
|
NM_000271.5(NPC1):c.3478-7A>C
|
rs767148121
|
0.00001
|
NM_000271.5(NPC1):c.3816C>T (p.Arg1272=)
|
rs375797728
|
0.00001
|
NM_000285.4(PEPD):c.969T>C (p.Gly323=)
|
rs1568445341
|
0.00001
|
NM_000287.4(PEX6):c.348C>T (p.Leu116=)
|
rs746578841
|
0.00001
|
NM_000295.5(SERPINA1):c.1065+10C>T
|
rs56388024
|
0.00001
|
NM_000295.5(SERPINA1):c.646+5_646+6del
|
rs779432340
|
0.00001
|
NM_000318.3(PEX2):c.825C>T (p.Asp275=)
|
rs367649632
|
0.00001
|
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=)
|
rs751050999
|
0.00001
|
NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=)
|
rs780761880
|
0.00001
|
NM_000337.6(SGCD):c.270C>T (p.Tyr90=)
|
rs749273088
|
0.00001
|
NM_000337.6(SGCD):c.45T>A (p.Pro15=)
|
rs727505092
|
0.00001
|
NM_000337.6(SGCD):c.768G>A (p.Thr256=)
|
rs376141942
|
0.00001
|
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=)
|
rs187965758
|
0.00001
|
NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=)
|
rs750526487
|
0.00001
|
NM_000350.3(ABCA4):c.769-3C>T
|
rs368010652
|
0.00001
|
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)
|
rs397514864
|
0.00001
|
NM_000368.5(TSC1):c.1775C>T (p.Thr592Met)
|
rs775869914
|
0.00001
|
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln)
|
rs375956049
|
0.00001
|
NM_000388.4(CASR):c.3132G>A (p.Val1044=)
|
rs755277801
|
0.00001
|
NM_000388.4(CASR):c.888C>T (p.Ser296=)
|
rs759988398
|
0.00001
|
NM_000392.5(ABCC2):c.2095-7C>T
|
rs774902843
|
0.00001
|
NM_000392.5(ABCC2):c.2700C>T (p.Ser900=)
|
rs1184984382
|
0.00001
|
NM_000392.5(ABCC2):c.330A>G (p.Thr110=)
|
rs750755532
|
0.00001
|
NM_000392.5(ABCC2):c.3591C>G (p.Val1197=)
|
rs774159224
|
0.00001
|
NM_000392.5(ABCC2):c.3873G>A (p.Pro1291=)
|
rs765304225
|
0.00001
|
NM_000392.5(ABCC2):c.4398G>A (p.Ala1466=)
|
rs780515921
|
0.00001
|
NM_000392.5(ABCC2):c.855T>C (p.Asp285=)
|
rs769700101
|
0.00001
|
NM_000414.4(HSD17B4):c.1210-11C>G
|
rs779466683
|
0.00001
|
NM_000430.4(PAFAH1B1):c.569-4T>G
|
rs765106555
|
0.00001
|
NM_000443.4(ABCB4):c.1119+8A>C
|
rs1471180323
|
0.00001
|
NM_000443.4(ABCB4):c.1233C>A (p.Ile411=)
|
rs916276498
|
0.00001
|
NM_000443.4(ABCB4):c.174G>A (p.Ser58=)
|
rs772771936
|
0.00001
|
NM_000443.4(ABCB4):c.240G>A (p.Glu80=)
|
rs8187787
|
0.00001
|
NM_000443.4(ABCB4):c.2730C>T (p.Thr910=)
|
rs978222245
|
0.00001
|
NM_000443.4(ABCB4):c.3033T>C (p.Phe1011=)
|
rs1297237099
|
0.00001
|
NM_000443.4(ABCB4):c.3258C>T (p.Tyr1086=)
|
rs1435564748
|
0.00001
|
NM_000443.4(ABCB4):c.3633+9G>A
|
rs1554396917
|
0.00001
|
NM_000443.4(ABCB4):c.3816C>T (p.Val1272=)
|
rs1029350022
|
0.00001
|
NM_000451.4(SHOX):c.723C>T (p.Phe241=)
|
rs886042718
|
0.00001
|
NM_000452.3(SLC10A2):c.753C>G (p.Pro251=)
|
rs1172213655
|
0.00001
|
NM_000455.5(STK11):c.579C>T (p.Ser193=)
|
rs730881961
|
0.00001
|
NM_000458.4(HNF1B):c.96G>A (p.Glu32=)
|
rs778229703
|
0.00001
|
NM_000463.3(UGT1A1):c.1161C>T (p.Pro387=)
|
rs763217521
|
0.00001
|
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=)
|
rs753334806
|
0.00001
|
NM_000487.6(ARSA):c.1211-10C>T
|
rs398123413
|
0.00001
|
NM_000492.4(CFTR):c.1047G>A (p.Ala349=)
|
rs200520623
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.2055A>G (p.Gln685=)
|
rs1457520634
|
0.00001
|
NM_000492.4(CFTR):c.3036A>G (p.Gln1012=)
|
rs537934752
|
0.00001
|
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=)
|
rs759202870
|
0.00001
|
NM_000493.4(COL10A1):c.1392G>A (p.Gly464=)
|
rs886042553
|
0.00001
|
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)
|
rs794727946
|
0.00001
|
NM_000540.3(RYR1):c.2037C>A (p.Thr679=)
|
rs571569206
|
0.00001
|
NM_000540.3(RYR1):c.4230C>T (p.Leu1410=)
|
rs750872878
|
0.00001
|
NM_000540.3(RYR1):c.5484C>T (p.Asp1828=)
|
rs775744847
|
0.00001
|
NM_000540.3(RYR1):c.5736G>A (p.Glu1912=)
|
rs753416949
|
0.00001
|
NM_000540.3(RYR1):c.624C>T (p.Cys208=)
|
rs746914281
|
0.00001
|
NM_000540.3(RYR1):c.7608G>A (p.Leu2536=)
|
rs201686887
|
0.00001
|
NM_000543.5(SMPD1):c.1341-9T>C
|
rs528939343
|
0.00001
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=)
|
rs369787650
|
0.00001
|
NM_000543.5(SMPD1):c.319-5T>C
|
rs958654789
|
0.00001
|
NM_000548.5(TSC2):c.1134G>A (p.Pro378=)
|
rs754343186
|
0.00001
|
NM_000548.5(TSC2):c.2823C>T (p.Asn941=)
|
rs750806272
|
0.00001
|
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=)
|
rs778352969
|
0.00001
|
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=)
|
rs368712041
|
0.00001
|
NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr)
|
rs1245934608
|
0.00001
|
NM_000548.5(TSC2):c.576C>T (p.Asp192=)
|
rs761704292
|
0.00001
|
NM_000548.5(TSC2):c.849-8A>G
|
rs765336852
|
0.00001
|
NM_000557.5(GDF5):c.1299C>T (p.Cys433=)
|
rs886042958
|
0.00001
|
NM_000719.7(CACNA1C):c.1218-6C>T
|
rs727503833
|
0.00001
|
NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=)
|
rs398123521
|
0.00001
|
NM_000719.7(CACNA1C):c.363C>T (p.Val121=)
|
rs886042281
|
0.00001
|
NM_000719.7(CACNA1C):c.5202C>T (p.Gly1734=)
|
rs769124319
|
0.00001
|
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=)
|
rs750835120
|
0.00001
|
NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala)
|
rs972053240
|
0.00001
|
NM_000742.4(CHRNA2):c.873C>T (p.Ser291=)
|
rs76140563
|
0.00001
|
NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met)
|
rs121912282
|
0.00001
|
NM_000780.4(CYP7A1):c.157C>T (p.Leu53Phe)
|
rs189424028
|
0.00001
|
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=)
|
rs1238340088
|
0.00001
|
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=)
|
rs1336081746
|
0.00001
|
NM_000784.4(CYP27A1):c.256-3C>T
|
rs1559391389
|
0.00001
|
NM_000784.4(CYP27A1):c.699C>A (p.Ile233=)
|
rs1178297854
|
0.00001
|
NM_000823.4(GHRHR):c.870C>T (p.Val290=)
|
rs369716383
|
0.00001
|
NM_000843.4(GRM6):c.1695G>A (p.Thr565=)
|
rs794727907
|
0.00001
|
NM_000875.5(IGF1R):c.318C>T (p.Ile106=)
|
rs1267154320
|
0.00001
|
NM_000883.4(IMPDH1):c.159C>T (p.Asp53=)
|
rs768265149
|
0.00001
|
NM_001005361.3(DNM2):c.216G>A (p.Gln72=)
|
rs368075301
|
0.00001
|
NM_001017420.3(ESCO2):c.738A>G (p.Val246=)
|
rs886044291
|
0.00001
|
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=)
|
rs375213838
|
0.00001
|
NM_001035.3(RYR2):c.1527C>T (p.Ser509=)
|
rs886042568
|
0.00001
|
NM_001035.3(RYR2):c.4752G>A (p.Pro1584=)
|
rs780111656
|
0.00001
|
NM_001037.5(SCN1B):c.273G>A (p.Val91=)
|
rs16969926
|
0.00001
|
NM_001040142.2(SCN2A):c.2016+10A>G
|
rs886042771
|
0.00001
|
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=)
|
rs1177406324
|
0.00001
|
NM_001042472.3(ABHD12):c.317-10T>A
|
rs768757901
|
0.00001
|
NM_001042472.3(ABHD12):c.66C>T (p.Ser22=)
|
rs1261172926
|
0.00001
|
NM_001077365.2(POMT1):c.1443C>T (p.His481=)
|
rs139415150
|
0.00001
|
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=)
|
rs757830349
|
0.00001
|
NM_001077365.2(POMT1):c.345G>A (p.Ser115=)
|
rs147212285
|
0.00001
|
NM_001079802.2(FKTN):c.180A>G (p.Lys60=)
|
rs886042513
|
0.00001
|
NM_001079802.2(FKTN):c.198C>G (p.Ser66=)
|
rs367868644
|
0.00001
|
NM_001079802.2(FKTN):c.21C>T (p.Asn7=)
|
rs564632018
|
0.00001
|
NM_001079802.2(FKTN):c.342A>G (p.Ala114=)
|
rs368598407
|
0.00001
|
NM_001079802.2(FKTN):c.357A>G (p.Leu119=)
|
rs760933616
|
0.00001
|
NM_001079802.2(FKTN):c.706A>G (p.Met236Val)
|
rs886042241
|
0.00001
|
NM_001083961.2(WDR62):c.2040T>C (p.His680=)
|
rs765451882
|
0.00001
|
NM_001083961.2(WDR62):c.525C>T (p.Tyr175=)
|
rs779093591
|
0.00001
|
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=)
|
rs746842727
|
0.00001
|
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=)
|
rs532057629
|
0.00001
|
NM_001101426.4(CRPPA):c.840A>G (p.Arg280=)
|
rs148054819
|
0.00001
|
NM_001110556.2(FLNA):c.2472C>T (p.Phe824=)
|
rs782669943
|
0.00001
|
NM_001110556.2(FLNA):c.2826+7A>G
|
rs782545599
|
0.00001
|
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys)
|
rs781878646
|
0.00001
|
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His)
|
rs727503930
|
0.00001
|
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=)
|
rs267608633
|
0.00001
|
NM_001110792.2(MECP2):c.474C>T (p.Gly158=)
|
rs61748386
|
0.00001
|
NM_001114753.3(ENG):c.1572C>T (p.Pro524=)
|
rs760682477
|
0.00001
|
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile)
|
rs769399113
|
0.00001
|
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=)
|
rs886043622
|
0.00001
|
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=)
|
rs757291476
|
0.00001
|
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=)
|
rs760994682
|
0.00001
|
NM_001127671.2(LIFR):c.1485T>C (p.Ala495=)
|
rs759537735
|
0.00001
|
NM_001128178.3(NPHP1):c.102A>G (p.Lys34=)
|
rs763004817
|
0.00001
|
NM_001130438.3(SPTAN1):c.3720-7C>T
|
rs773023641
|
0.00001
|
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg)
|
rs771886198
|
0.00001
|
NM_001130823.3(DNMT1):c.2835C>T (p.Asn945=)
|
rs539948794
|
0.00001
|
NM_001130987.2(DYSF):c.1577-10T>C
|
rs371967475
|
0.00001
|
NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=)
|
rs566381009
|
0.00001
|
NM_001130987.2(DYSF):c.4188C>T (p.Pro1396=)
|
rs774464702
|
0.00001
|
NM_001130987.2(DYSF):c.4261G>A (p.Val1421Ile)
|
rs767049254
|
0.00001
|
NM_001130987.2(DYSF):c.5427C>G (p.Leu1809=)
|
rs763198861
|
0.00001
|
NM_001130987.2(DYSF):c.606G>A (p.Ala202=)
|
rs398123791
|
0.00001
|
NM_001130987.2(DYSF):c.6174-8G>A
|
rs777167646
|
0.00001
|
NM_001134363.3(RBM20):c.2514T>C (p.Ala838=)
|
rs794727966
|
0.00001
|
NM_001134407.3(GRIN2A):c.1069G>A (p.Val357Met)
|
rs78929970
|
0.00001
|
NM_001134407.3(GRIN2A):c.678C>T (p.Val226=)
|
rs1567187672
|
0.00001
|
NM_001142800.2(EYS):c.5487A>G (p.Lys1829=)
|
rs373872866
|
0.00001
|
NM_001159699.2(FHL1):c.88T>C (p.Leu30=)
|
rs1313810606
|
0.00001
|
NM_001161352.2(KCNMA1):c.1305C>T (p.Asp435=)
|
rs201999021
|
0.00001
|
NM_001164277.2(SLC37A4):c.786-7A>G
|
rs781887799
|
0.00001
|
NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser)
|
rs1373733895
|
0.00001
|
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val)
|
rs779306054
|
0.00001
|
NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=)
|
rs886043063
|
0.00001
|
NM_001165963.4(SCN1A):c.852T>C (p.Asn284=)
|
rs748747434
|
0.00001
|
NM_001165963.4(SCN1A):c.90A>G (p.Ala30=)
|
rs750748658
|
0.00001
|
NM_001170629.2(CHD8):c.5141T>C (p.Met1714Thr)
|
rs369748510
|
0.00001
|
NM_001173467.3(SP7):c.63G>A (p.Thr21=)
|
rs542641721
|
0.00001
|
NM_001177316.2(SLC34A3):c.945C>T (p.Gly315=)
|
rs915920618
|
0.00001
|
NM_001182.5(ALDH7A1):c.387A>C (p.Gly129=)
|
rs1467521069
|
0.00001
|
NM_001184880.2(PCDH19):c.1401G>T (p.Thr467=)
|
rs794726896
|
0.00001
|
NM_001184880.2(PCDH19):c.228C>T (p.Pro76=)
|
rs794726898
|
0.00001
|
NM_001184880.2(PCDH19):c.2496C>T (p.Phe832=)
|
rs774555485
|
0.00001
|
NM_001184880.2(PCDH19):c.3057G>A (p.Gly1019=)
|
rs886043091
|
0.00001
|
NM_001189.4(NKX3-2):c.873A>G (p.Arg291=)
|
rs921673580
|
0.00001
|
NM_001191061.2(SLC25A22):c.379C>T (p.Leu127=)
|
rs746201051
|
0.00001
|
NM_001193315.2(VIPAS39):c.1221C>T (p.Phe407=)
|
rs886044709
|
0.00001
|
NM_001193315.2(VIPAS39):c.1266+5T>C
|
rs762123926
|
0.00001
|
NM_001193315.2(VIPAS39):c.1356+8C>T
|
rs988006454
|
0.00001
|
NM_001199107.2(TBC1D24):c.972A>C (p.Ser324=)
|
rs886043654
|
0.00001
|
NM_001206979.2(NR1H4):c.1353C>T (p.His451=)
|
rs574925287
|
0.00001
|
NM_001206979.2(NR1H4):c.750C>T (p.Thr250=)
|
rs1322754256
|
0.00001
|
NM_001252024.2(TRPM1):c.435C>A (p.Gly145=)
|
rs774819442
|
0.00001
|
NM_001267550.2(TTN):c.100167A>G (p.Pro33389=)
|
rs778478048
|
0.00001
|
NM_001267550.2(TTN):c.100629T>C (p.Tyr33543=)
|
rs772935423
|
0.00001
|
NM_001267550.2(TTN):c.101532A>G (p.Thr33844=)
|
rs776839796
|
0.00001
|
NM_001267550.2(TTN):c.102025T>C (p.Leu34009=)
|
rs794727543
|
0.00001
|
NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys)
|
rs577667352
|
0.00001
|
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=)
|
rs528502993
|
0.00001
|
NM_001267550.2(TTN):c.103207C>T (p.Leu34403=)
|
rs773892755
|
0.00001
|
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln)
|
rs770742837
|
0.00001
|
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His)
|
rs762235688
|
0.00001
|
NM_001267550.2(TTN):c.104457C>T (p.Tyr34819=)
|
rs548677252
|
0.00001
|
NM_001267550.2(TTN):c.105852C>G (p.Ala35284=)
|
rs776786546
|
0.00001
|
NM_001267550.2(TTN):c.105999G>A (p.Gln35333=)
|
rs764231632
|
0.00001
|
NM_001267550.2(TTN):c.107200G>A (p.Glu35734Lys)
|
rs374992991
|
0.00001
|
NM_001267550.2(TTN):c.107832G>A (p.Arg35944=)
|
rs759154562
|
0.00001
|
NM_001267550.2(TTN):c.12387G>A (p.Arg4129=)
|
rs199546417
|
0.00001
|
NM_001267550.2(TTN):c.13365A>G (p.Val4455=)
|
rs956041710
|
0.00001
|
NM_001267550.2(TTN):c.13872C>T (p.His4624=)
|
rs765700138
|
0.00001
|
NM_001267550.2(TTN):c.1452T>C (p.Asp484=)
|
rs746610206
|
0.00001
|
NM_001267550.2(TTN):c.16078A>G (p.Thr5360Ala)
|
rs749081117
|
0.00001
|
NM_001267550.2(TTN):c.16159A>C (p.Arg5387=)
|
rs371501460
|
0.00001
|
NM_001267550.2(TTN):c.16530T>C (p.Tyr5510=)
|
rs970449071
|
0.00001
|
NM_001267550.2(TTN):c.17082G>T (p.Leu5694=)
|
rs750996600
|
0.00001
|
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp)
|
rs377193479
|
0.00001
|
NM_001267550.2(TTN):c.17280G>A (p.Thr5760=)
|
rs748617936
|
0.00001
|
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=)
|
rs373963067
|
0.00001
|
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=)
|
rs772600691
|
0.00001
|
NM_001267550.2(TTN):c.21003A>G (p.Lys7001=)
|
rs727504579
|
0.00001
|
NM_001267550.2(TTN):c.210G>T (p.Val70=)
|
rs746033038
|
0.00001
|
NM_001267550.2(TTN):c.23091A>G (p.Thr7697=)
|
rs1198504900
|
0.00001
|
NM_001267550.2(TTN):c.23178G>A (p.Ser7726=)
|
rs753546095
|
0.00001
|
NM_001267550.2(TTN):c.23352G>A (p.Thr7784=)
|
rs745476881
|
0.00001
|
NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp)
|
rs768608500
|
0.00001
|
NM_001267550.2(TTN):c.2629C>A (p.Pro877Thr)
|
rs751640052
|
0.00001
|
NM_001267550.2(TTN):c.267G>A (p.Ala89=)
|
rs577716745
|
0.00001
|
NM_001267550.2(TTN):c.27198C>G (p.Asn9066Lys)
|
rs369529493
|
0.00001
|
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln)
|
rs397517527
|
0.00001
|
NM_001267550.2(TTN):c.2916G>A (p.Pro972=)
|
rs757569345
|
0.00001
|
NM_001267550.2(TTN):c.3011A>C (p.Glu1004Ala)
|
rs1413214135
|
0.00001
|
NM_001267550.2(TTN):c.30224-7T>G
|
rs778458915
|
0.00001
|
NM_001267550.2(TTN):c.31321G>A (p.Glu10441Lys)
|
rs901197333
|
0.00001
|
NM_001267550.2(TTN):c.31846+5A>G
|
rs760788961
|
0.00001
|
NM_001267550.2(TTN):c.32470+4T>C
|
rs1390842582
|
0.00001
|
NM_001267550.2(TTN):c.33248-8C>G
|
rs766957102
|
0.00001
|
NM_001267550.2(TTN):c.34575C>T (p.Ile11525=)
|
rs537187311
|
0.00001
|
NM_001267550.2(TTN):c.3670T>C (p.Leu1224=)
|
rs764873258
|
0.00001
|
NM_001267550.2(TTN):c.39473T>C (p.Val13158Ala)
|
rs1553769611
|
0.00001
|
NM_001267550.2(TTN):c.39895+7A>G
|
rs1299824475
|
0.00001
|
NM_001267550.2(TTN):c.40558G>A (p.Val13520Ile)
|
rs587780488
|
0.00001
|
NM_001267550.2(TTN):c.40800C>A (p.Ile13600=)
|
rs879111430
|
0.00001
|
NM_001267550.2(TTN):c.41778T>C (p.Asp13926=)
|
rs766397292
|
0.00001
|
NM_001267550.2(TTN):c.42613T>C (p.Leu14205=)
|
rs747480084
|
0.00001
|
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg)
|
rs374085402
|
0.00001
|
NM_001267550.2(TTN):c.43623G>A (p.Ser14541=)
|
rs369434563
|
0.00001
|
NM_001267550.2(TTN):c.43716G>T (p.Gly14572=)
|
rs200065187
|
0.00001
|
NM_001267550.2(TTN):c.43748-7C>T
|
rs771927358
|
0.00001
|
NM_001267550.2(TTN):c.43836A>G (p.Ala14612=)
|
rs755492644
|
0.00001
|
NM_001267550.2(TTN):c.43987A>C (p.Lys14663Gln)
|
rs1271800091
|
0.00001
|
NM_001267550.2(TTN):c.44112C>T (p.His14704=)
|
rs754693395
|
0.00001
|
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg)
|
rs144848584
|
0.00001
|
NM_001267550.2(TTN):c.4641G>T (p.Val1547=)
|
rs1012929202
|
0.00001
|
NM_001267550.2(TTN):c.46899G>A (p.Gly15633=)
|
rs727504195
|
0.00001
|
NM_001267550.2(TTN):c.47258G>A (p.Arg15753Lys)
|
rs577133803
|
0.00001
|
NM_001267550.2(TTN):c.48330T>C (p.Thr16110=)
|
rs557105262
|
0.00001
|
NM_001267550.2(TTN):c.48960T>C (p.Asp16320=)
|
rs1057523898
|
0.00001
|
NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val)
|
rs749438439
|
0.00001
|
NM_001267550.2(TTN):c.5022C>G (p.Ala1674=)
|
rs753444772
|
0.00001
|
NM_001267550.2(TTN):c.50835T>C (p.Asn16945=)
|
rs750172128
|
0.00001
|
NM_001267550.2(TTN):c.51099C>T (p.Leu17033=)
|
rs755994820
|
0.00001
|
NM_001267550.2(TTN):c.51231C>A (p.Thr17077=)
|
rs779518431
|
0.00001
|
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly)
|
rs397517607
|
0.00001
|
NM_001267550.2(TTN):c.52323C>T (p.Tyr17441=)
|
rs749855424
|
0.00001
|
NM_001267550.2(TTN):c.52374T>C (p.Val17458=)
|
rs752571545
|
0.00001
|
NM_001267550.2(TTN):c.52920C>T (p.Tyr17640=)
|
rs1553687219
|
0.00001
|
NM_001267550.2(TTN):c.53625A>G (p.Thr17875=)
|
rs373277508
|
0.00001
|
NM_001267550.2(TTN):c.55290C>T (p.Pro18430=)
|
rs777904054
|
0.00001
|
NM_001267550.2(TTN):c.55503G>A (p.Lys18501=)
|
rs879239475
|
0.00001
|
NM_001267550.2(TTN):c.55986C>T (p.Val18662=)
|
rs747136342
|
0.00001
|
NM_001267550.2(TTN):c.56256G>A (p.Pro18752=)
|
rs111262307
|
0.00001
|
NM_001267550.2(TTN):c.57243T>A (p.Ile19081=)
|
rs1185555417
|
0.00001
|
NM_001267550.2(TTN):c.5739C>T (p.Thr1913=)
|
rs530291008
|
0.00001
|
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=)
|
rs370091658
|
0.00001
|
NM_001267550.2(TTN):c.58653T>C (p.Ile19551=)
|
rs727504980
|
0.00001
|
NM_001267550.2(TTN):c.59502T>C (p.Asp19834=)
|
rs972823319
|
0.00001
|
NM_001267550.2(TTN):c.60342C>T (p.Thr20114=)
|
rs529529087
|
0.00001
|
NM_001267550.2(TTN):c.61355T>A (p.Ile20452Asn)
|
rs375946418
|
0.00001
|
NM_001267550.2(TTN):c.61962C>T (p.Ile20654=)
|
rs369710636
|
0.00001
|
NM_001267550.2(TTN):c.6243C>T (p.Phe2081=)
|
rs770052197
|
0.00001
|
NM_001267550.2(TTN):c.6406T>C (p.Leu2136=)
|
rs765377738
|
0.00001
|
NM_001267550.2(TTN):c.6423G>A (p.Val2141=)
|
rs768989325
|
0.00001
|
NM_001267550.2(TTN):c.64785T>C (p.Tyr21595=)
|
rs751009684
|
0.00001
|
NM_001267550.2(TTN):c.65514C>T (p.Thr21838=)
|
rs372543748
|
0.00001
|
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser)
|
rs72646866
|
0.00001
|
NM_001267550.2(TTN):c.66423C>T (p.Pro22141=)
|
rs1322620894
|
0.00001
|
NM_001267550.2(TTN):c.6690C>T (p.Phe2230=)
|
rs755122338
|
0.00001
|
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)
|
rs727505352
|
0.00001
|
NM_001267550.2(TTN):c.68997C>A (p.Thr22999=)
|
rs369068922
|
0.00001
|
NM_001267550.2(TTN):c.69639T>C (p.Arg23213=)
|
rs1487392148
|
0.00001
|
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)
|
rs374509926
|
0.00001
|
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile)
|
rs397517690
|
0.00001
|
NM_001267550.2(TTN):c.72552C>T (p.Val24184=)
|
rs727504187
|
0.00001
|
NM_001267550.2(TTN):c.72630A>G (p.Glu24210=)
|
rs1384344292
|
0.00001
|
NM_001267550.2(TTN):c.73224G>A (p.Gly24408=)
|
rs371034493
|
0.00001
|
NM_001267550.2(TTN):c.74331C>T (p.Asp24777=)
|
rs368530092
|
0.00001
|
NM_001267550.2(TTN):c.74763C>T (p.Ser24921=)
|
rs371563258
|
0.00001
|
NM_001267550.2(TTN):c.75364G>A (p.Val25122Met)
|
rs376821762
|
0.00001
|
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe)
|
rs374494927
|
0.00001
|
NM_001267550.2(TTN):c.77037T>C (p.Asn25679=)
|
rs372800320
|
0.00001
|
NM_001267550.2(TTN):c.77166T>C (p.Pro25722=)
|
rs757252494
|
0.00001
|
NM_001267550.2(TTN):c.78372T>C (p.Ile26124=)
|
rs886044461
|
0.00001
|
NM_001267550.2(TTN):c.7902C>T (p.Ser2634=)
|
rs1553997365
|
0.00001
|
NM_001267550.2(TTN):c.795C>T (p.Ser265=)
|
rs780802517
|
0.00001
|
NM_001267550.2(TTN):c.8013C>A (p.Gly2671=)
|
rs369439944
|
0.00001
|
NM_001267550.2(TTN):c.80841T>C (p.Phe26947=)
|
rs1015506783
|
0.00001
|
NM_001267550.2(TTN):c.82526G>A (p.Arg27509Gln)
|
rs1246168127
|
0.00001
|
NM_001267550.2(TTN):c.82539C>T (p.Gly27513=)
|
rs775673876
|
0.00001
|
NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr)
|
rs769343491
|
0.00001
|
NM_001267550.2(TTN):c.83526T>G (p.Ala27842=)
|
rs539533062
|
0.00001
|
NM_001267550.2(TTN):c.84157C>T (p.Leu28053Phe)
|
rs1194981313
|
0.00001
|
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp)
|
rs397517730
|
0.00001
|
NM_001267550.2(TTN):c.85746A>C (p.Ile28582=)
|
rs771116739
|
0.00001
|
NM_001267550.2(TTN):c.85953A>G (p.Leu28651=)
|
rs546573613
|
0.00001
|
NM_001267550.2(TTN):c.86085C>T (p.Asp28695=)
|
rs773001228
|
0.00001
|
NM_001267550.2(TTN):c.87081A>G (p.Arg29027=)
|
rs886042694
|
0.00001
|
NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=)
|
rs369444690
|
0.00001
|
NM_001267550.2(TTN):c.88983C>T (p.Gly29661=)
|
rs371678936
|
0.00001
|
NM_001267550.2(TTN):c.90180C>T (p.Ser30060=)
|
rs1171957663
|
0.00001
|
NM_001267550.2(TTN):c.9108T>C (p.Ala3036=)
|
rs886044544
|
0.00001
|
NM_001267550.2(TTN):c.91224C>T (p.Ser30408=)
|
rs1057522835
|
0.00001
|
NM_001267550.2(TTN):c.918C>T (p.Ser306=)
|
rs773898647
|
0.00001
|
NM_001267550.2(TTN):c.92951A>G (p.Glu30984Gly)
|
rs770525487
|
0.00001
|
NM_001267550.2(TTN):c.95232C>T (p.Ile31744=)
|
rs267599026
|
0.00001
|
NM_001267550.2(TTN):c.95649G>A (p.Val31883=)
|
rs1553520236
|
0.00001
|
NM_001267550.2(TTN):c.95686G>A (p.Glu31896Lys)
|
rs745365163
|
0.00001
|
NM_001267550.2(TTN):c.9714G>A (p.Pro3238=)
|
rs886042397
|
0.00001
|
NM_001267550.2(TTN):c.97294C>T (p.Leu32432=)
|
rs72648267
|
0.00001
|
NM_001267550.2(TTN):c.97418G>A (p.Arg32473His)
|
rs397517770
|
0.00001
|
NM_001267550.2(TTN):c.97673G>A (p.Arg32558Gln)
|
rs369237346
|
0.00001
|
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val)
|
rs397517771
|
0.00001
|
NM_001267550.2(TTN):c.97947G>C (p.Lys32649Asn)
|
rs773776767
|
0.00001
|
NM_001267550.2(TTN):c.98151G>A (p.Arg32717=)
|
rs757402291
|
0.00001
|
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly)
|
rs191054704
|
0.00001
|
NM_001267550.2(TTN):c.98781T>C (p.Ser32927=)
|
rs750855113
|
0.00001
|
NM_001267550.2(TTN):c.98919C>T (p.Ile32973=)
|
rs776133124
|
0.00001
|
NM_001267550.2(TTN):c.99990A>G (p.Lys33330=)
|
rs749702063
|
0.00001
|
NM_001278116.2(L1CAM):c.1880C>T (p.Thr627Met)
|
rs398123360
|
0.00001
|
NM_001278431.2(C1QTNF5):c.306G>A (p.Pro102=)
|
rs751346951
|
0.00001
|
NM_001291415.2(KDM6A):c.4208G>A (p.Arg1403Gln)
|
rs370765411
|
0.00001
|
NM_001292063.2(OTOG):c.7268-7T>A
|
rs911853347
|
0.00001
|
NM_001292063.2(OTOG):c.7995C>T (p.Cys2665=)
|
rs200809116
|
0.00001
|
NM_001297.5(CNGB1):c.705C>T (p.Pro235=)
|
rs748140894
|
0.00001
|
NM_001298.3(CNGA3):c.1831C>T (p.Leu611=)
|
rs747855074
|
0.00001
|
NM_001323289.2(CDKL5):c.2152+10C>G
|
rs763466606
|
0.00001
|
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=)
|
rs201485014
|
0.00001
|
NM_001330078.2(NRXN1):c.3042C>T (p.Thr1014=)
|
rs75137449
|
0.00001
|
NM_001330078.2(NRXN1):c.3071-10C>T
|
rs398123573
|
0.00001
|
NM_001330078.2(NRXN1):c.3245-4G>T
|
rs1057520338
|
0.00001
|
NM_001330078.2(NRXN1):c.3364+3A>G
|
rs762891600
|
0.00001
|
NM_001330260.2(SCN8A):c.2733C>T (p.Asp911=)
|
rs763201344
|
0.00001
|
NM_001330260.2(SCN8A):c.929-4C>G
|
rs771227940
|
0.00001
|
NM_001360.3(DHCR7):c.831+7G>A
|
rs1318919210
|
0.00001
|
NM_001367624.2(ZNF469):c.2017G>A (p.Ala673Thr)
|
rs770623245
|
0.00001
|
NM_001367721.1(CASK):c.1390A>G (p.Thr464Ala)
|
rs886042221
|
0.00001
|
NM_001367721.1(CASK):c.159G>T (p.Gly53=)
|
rs761946846
|
0.00001
|
NM_001371596.2(MFSD8):c.15G>A (p.Arg5=)
|
rs762559863
|
0.00001
|
NM_001374353.1(GLI2):c.765G>A (p.Ser255=)
|
rs200901345
|
0.00001
|
NM_001374385.1(ATP8B1):c.1812T>C (p.Ser604=)
|
rs754573787
|
0.00001
|
NM_001374385.1(ATP8B1):c.2209+9T>C
|
rs377124910
|
0.00001
|
NM_001374385.1(ATP8B1):c.2932-9C>T
|
rs776616431
|
0.00001
|
NM_001374385.1(ATP8B1):c.549T>C (p.Asp183=)
|
rs201160977
|
0.00001
|
NM_001378120.1(MBD5):c.258C>T (p.Thr86=)
|
rs542137271
|
0.00001
|
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=)
|
rs777735514
|
0.00001
|
NM_001378414.1(HDAC4):c.922G>A (p.Gly308Arg)
|
rs551711839
|
0.00001
|
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln)
|
rs200979896
|
0.00001
|
NM_001378615.1(CC2D2A):c.1836C>T (p.Pro612=)
|
rs763567590
|
0.00001
|
NM_001378615.1(CC2D2A):c.2196C>T (p.Val732=)
|
rs764246302
|
0.00001
|
NM_001378615.1(CC2D2A):c.4728C>T (p.Asp1576=)
|
rs774919996
|
0.00001
|
NM_001378615.1(CC2D2A):c.541-5G>A
|
rs369022150
|
0.00001
|
NM_001379110.1(SLC9A6):c.1380C>T (p.Ser460=)
|
rs782177396
|
0.00001
|
NM_001379270.1(CNGA1):c.1560C>T (p.Leu520=)
|
rs775781523
|
0.00001
|
NM_001379270.1(CNGA1):c.438-6C>T
|
rs794727950
|
0.00001
|
NM_001384140.1(PCDH15):c.189A>G (p.Lys63=)
|
rs1554940478
|
0.00001
|
NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=)
|
rs886042223
|
0.00001
|
NM_001429.4(EP300):c.1453C>A (p.Gln485Lys)
|
rs772407988
|
0.00001
|
NM_001457.4(FLNB):c.3144C>T (p.Pro1048=)
|
rs376519914
|
0.00001
|
NM_001457.4(FLNB):c.5043G>A (p.Pro1681=)
|
rs886042162
|
0.00001
|
NM_001458.5(FLNC):c.3054C>T (p.Gly1018=)
|
rs769624093
|
0.00001
|
NM_001458.5(FLNC):c.6441C>T (p.Ile2147=)
|
rs762017885
|
0.00001
|
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=)
|
rs371835359
|
0.00001
|
NM_001844.5(COL2A1):c.3886G>C (p.Gly1296Arg)
|
rs546672421
|
0.00001
|
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys)
|
rs781229123
|
0.00001
|
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=)
|
rs201223454
|
0.00001
|
NM_001848.3(COL6A1):c.2643G>A (p.Thr881=)
|
rs372725624
|
0.00001
|
NM_001849.4(COL6A2):c.2241G>A (p.Leu747=)
|
rs398123649
|
0.00001
|
NM_001849.4(COL6A2):c.2397T>C (p.Asp799=)
|
rs754203636
|
0.00001
|
NM_001849.4(COL6A2):c.2841C>T (p.Leu947=)
|
rs532522222
|
0.00001
|
NM_001849.4(COL6A2):c.459C>T (p.Thr153=)
|
rs764014106
|
0.00001
|
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=)
|
rs1135057
|
0.00001
|
NM_001851.6(COL9A1):c.88+7G>C
|
rs755501266
|
0.00001
|
NM_001852.4(COL9A2):c.1857C>G (p.Pro619=)
|
rs771660985
|
0.00001
|
NM_001852.4(COL9A2):c.846+10C>T
|
rs1045951380
|
0.00001
|
NM_001853.4(COL9A3):c.1263C>T (p.Gly421=)
|
rs776017580
|
0.00001
|
NM_001853.4(COL9A3):c.72G>A (p.Gly24=)
|
rs777240987
|
0.00001
|
NM_001854.4(COL11A1):c.1414-9T>A
|
rs794727062
|
0.00001
|
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser)
|
rs56230601
|
0.00001
|
NM_001854.4(COL11A1):c.2610+9T>C
|
rs754222130
|
0.00001
|
NM_001854.4(COL11A1):c.2725G>A (p.Asp909Asn)
|
rs779028602
|
0.00001
|
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu)
|
rs753649097
|
0.00001
|
NM_001854.4(COL11A1):c.4320T>C (p.Pro1440=)
|
rs762511819
|
0.00001
|
NM_001854.4(COL11A1):c.4859-3T>C
|
rs774985706
|
0.00001
|
NM_001927.4(DES):c.-7C>G
|
rs764966574
|
0.00001
|
NM_001927.4(DES):c.1050G>A (p.Arg350=)
|
rs769505280
|
0.00001
|
NM_001927.4(DES):c.1180G>A (p.Val394Met)
|
rs776786349
|
0.00001
|
NM_001927.4(DES):c.1372-8C>T
|
rs794727968
|
0.00001
|
NM_001927.4(DES):c.210G>C (p.Arg70=)
|
rs761255472
|
0.00001
|
NM_001927.4(DES):c.218G>A (p.Arg73Gln)
|
rs752518966
|
0.00001
|
NM_001927.4(DES):c.822C>T (p.Leu274=)
|
rs763599850
|
0.00001
|
NM_001931.5(DLAT):c.423G>A (p.Glu141=)
|
rs781936816
|
0.00001
|
NM_001966.4(EHHADH):c.1693C>T (p.Leu565Phe)
|
rs771154497
|
0.00001
|
NM_001966.4(EHHADH):c.2078A>G (p.Glu693Gly)
|
rs747498106
|
0.00001
|
NM_001999.4(FBN2):c.2013G>A (p.Gly671=)
|
rs778762668
|
0.00001
|
NM_002024.6(FMR1):c.1654+10T>A
|
rs782472011
|
0.00001
|
NM_002335.4(LRP5):c.1002G>A (p.Arg334=)
|
rs868085658
|
0.00001
|
NM_002335.4(LRP5):c.2241G>A (p.Leu747=)
|
rs867927445
|
0.00001
|
NM_002335.4(LRP5):c.2463C>T (p.Thr821=)
|
rs778180589
|
0.00001
|
NM_002335.4(LRP5):c.480C>T (p.Pro160=)
|
rs377114189
|
0.00001
|
NM_002397.5(MEF2C):c.585C>T (p.Asn195=)
|
rs398123686
|
0.00001
|
NM_002427.4(MMP13):c.1251G>A (p.Pro417=)
|
rs150203792
|
0.00001
|
NM_002437.5(MPV17):c.70+8T>G
|
rs755647054
|
0.00001
|
NM_002473.6(MYH9):c.5151-5C>T
|
rs762613036
|
0.00001
|
NM_002615.7(SERPINF1):c.510G>A (p.Thr170=)
|
rs765928741
|
0.00001
|
NM_002617.4(PEX10):c.194-5C>T
|
rs375032738
|
0.00001
|
NM_002617.4(PEX10):c.913-3C>T
|
rs777570617
|
0.00001
|
NM_002693.3(POLG):c.114G>T (p.Gly38=)
|
rs794727268
|
0.00001
|
NM_002693.3(POLG):c.116A>G (p.Gln39Arg)
|
rs749750052
|
0.00001
|
NM_002693.3(POLG):c.129G>A (p.Gln43=)
|
rs570989155
|
0.00001
|
NM_002693.3(POLG):c.3258G>A (p.Ser1086=)
|
rs763312940
|
0.00001
|
NM_002693.3(POLG):c.330C>T (p.His110=)
|
rs376266682
|
0.00001
|
NM_002693.3(POLG):c.522C>G (p.Gly174=)
|
rs766842881
|
0.00001
|
NM_002693.3(POLG):c.581C>T (p.Ala194Val)
|
rs779122022
|
0.00001
|
NM_002693.3(POLG):c.603C>T (p.Val201=)
|
rs768005050
|
0.00001
|
NM_002968.3(SALL1):c.2590G>A (p.Ala864Thr)
|
rs199626036
|
0.00001
|
NM_002979.5(SCP2):c.1347A>G (p.Glu449=)
|
rs376582235
|
0.00001
|
NM_002979.5(SCP2):c.648T>C (p.Phe216=)
|
rs774694600
|
0.00001
|
NM_003001.5(SDHC):c.420A>G (p.Gly140=)
|
rs794727791
|
0.00001
|
NM_003073.5(SMARCB1):c.362+8G>A
|
rs727504162
|
0.00001
|
NM_003482.4(KMT2D):c.11304T>C (p.Ala3768=)
|
rs771212750
|
0.00001
|
NM_003482.4(KMT2D):c.13797G>A (p.Ala4599=)
|
rs727503980
|
0.00001
|
NM_003482.4(KMT2D):c.16299C>T (p.Asn5433=)
|
rs975080118
|
0.00001
|
NM_003482.4(KMT2D):c.6434C>T (p.Pro2145Leu)
|
rs574231443
|
0.00001
|
NM_003482.4(KMT2D):c.6435G>A (p.Pro2145=)
|
rs374077422
|
0.00001
|
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu)
|
rs1258008817
|
0.00001
|
NM_003482.4(KMT2D):c.8288C>T (p.Pro2763Leu)
|
rs398123762
|
0.00001
|
NM_003630.3(PEX3):c.513A>G (p.Leu171=)
|
rs769938240
|
0.00001
|
NM_003630.3(PEX3):c.748-4A>G
|
rs1024883914
|
0.00001
|
NM_003659.4(AGPS):c.891T>C (p.Cys297=)
|
rs755884284
|
0.00001
|
NM_003673.4(TCAP):c.225C>T (p.Gly75=)
|
rs754744780
|
0.00001
|
NM_003742.4(ABCB11):c.216T>C (p.His72=)
|
rs1174260635
|
0.00001
|
NM_003742.4(ABCB11):c.2457C>A (p.Ala819=)
|
rs1398103963
|
0.00001
|
NM_003742.4(ABCB11):c.2490G>A (p.Arg830=)
|
rs775663263
|
0.00001
|
NM_003742.4(ABCB11):c.2523G>A (p.Gly841=)
|
rs367874361
|
0.00001
|
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=)
|
rs1014304470
|
0.00001
|
NM_003742.4(ABCB11):c.2628C>T (p.Ile876=)
|
rs200127070
|
0.00001
|
NM_003742.4(ABCB11):c.2655C>T (p.Asn885=)
|
rs756738723
|
0.00001
|
NM_003742.4(ABCB11):c.2988T>C (p.Asn996=)
|
rs762824612
|
0.00001
|
NM_003742.4(ABCB11):c.3246T>C (p.Asp1082=)
|
rs750944055
|
0.00001
|
NM_003742.4(ABCB11):c.3766-10C>T
|
rs369104228
|
0.00001
|
NM_003742.4(ABCB11):c.3768G>A (p.Thr1256=)
|
rs773371540
|
0.00001
|
NM_003742.4(ABCB11):c.477+8G>T
|
rs745477056
|
0.00001
|
NM_003816.3(ADAM9):c.2160G>A (p.Arg720=)
|
rs536279890
|
0.00001
|
NM_003835.4(RGS9):c.1645C>T (p.Arg549Cys)
|
rs574696410
|
0.00001
|
NM_003846.3(PEX11B):c.192A>G (p.Ser64=)
|
rs781844151
|
0.00001
|
NM_003846.3(PEX11B):c.375-7G>A
|
rs1049689144
|
0.00001
|
NM_003977.4(AIP):c.345G>C (p.Leu115=)
|
rs996404334
|
0.00001
|
NM_004006.3(DMD):c.-5T>C
|
rs794726910
|
0.00001
|
NM_004006.3(DMD):c.1058C>T (p.Ser353Leu)
|
rs374713915
|
0.00001
|
NM_004006.3(DMD):c.1150-4T>A
|
rs794727031
|
0.00001
|
NM_004006.3(DMD):c.1582G>A (p.Ala528Thr)
|
rs201067368
|
0.00001
|
NM_004006.3(DMD):c.1919C>T (p.Thr640Met)
|
rs183677010
|
0.00001
|
NM_004006.3(DMD):c.243G>A (p.Leu81=)
|
rs748842563
|
0.00001
|
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)
|
rs200872948
|
0.00001
|
NM_004006.3(DMD):c.2937C>T (p.Leu979=)
|
rs774450833
|
0.00001
|
NM_004006.3(DMD):c.3688C>T (p.Pro1230Ser)
|
rs886042862
|
0.00001
|
NM_004006.3(DMD):c.4561A>G (p.Met1521Val)
|
rs757350813
|
0.00001
|
NM_004006.3(DMD):c.4773T>C (p.Asp1591=)
|
rs886044358
|
0.00001
|
NM_004006.3(DMD):c.4775T>C (p.Met1592Thr)
|
rs398123966
|
0.00001
|
NM_004006.3(DMD):c.4941G>A (p.Thr1647=)
|
rs750090479
|
0.00001
|
NM_004006.3(DMD):c.4995C>T (p.Ser1665=)
|
rs775659020
|
0.00001
|
NM_004006.3(DMD):c.5658T>C (p.Ala1886=)
|
rs398123994
|
0.00001
|
NM_004006.3(DMD):c.6896A>C (p.Asn2299Thr)
|
rs747055774
|
0.00001
|
NM_004006.3(DMD):c.6973C>A (p.Gln2325Lys)
|
rs781054741
|
0.00001
|
NM_004006.3(DMD):c.7427A>G (p.Asn2476Ser)
|
rs757394130
|
0.00001
|
NM_004006.3(DMD):c.7956T>C (p.Ser2652=)
|
rs757902182
|
0.00001
|
NM_004006.3(DMD):c.8083C>T (p.Pro2695Ser)
|
rs755445214
|
0.00001
|
NM_004006.3(DMD):c.8508C>T (p.Gly2836=)
|
rs374374549
|
0.00001
|
NM_004006.3(DMD):c.8705G>A (p.Arg2902Gln)
|
rs754308757
|
0.00001
|
NM_004006.3(DMD):c.8847G>A (p.Lys2949=)
|
rs185664502
|
0.00001
|
NM_004006.3(DMD):c.8913C>T (p.Leu2971=)
|
rs780354925
|
0.00001
|
NM_004006.3(DMD):c.9051G>A (p.Leu3017=)
|
rs772255929
|
0.00001
|
NM_004086.3(COCH):c.239+5G>A
|
rs563163157
|
0.00001
|
NM_004086.3(COCH):c.482-4G>A
|
rs773935807
|
0.00001
|
NM_004187.5(KDM5C):c.4338C>T (p.His1446=)
|
rs797044695
|
0.00001
|
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu)
|
rs781636798
|
0.00001
|
NM_004281.4(BAG3):c.465A>G (p.Ala155=)
|
rs775151738
|
0.00001
|
NM_004333.6(BRAF):c.1305G>A (p.Arg435=)
|
rs763771673
|
0.00001
|
NM_004341.5(CAD):c.1536C>T (p.Thr512=)
|
rs368889621
|
0.00001
|
NM_004360.5(CDH1):c.1500C>T (p.Gly500=)
|
rs781317341
|
0.00001
|
NM_004369.4(COL6A3):c.1080C>T (p.Asp360=)
|
rs762463347
|
0.00001
|
NM_004369.4(COL6A3):c.2487C>T (p.Leu829=)
|
rs752530417
|
0.00001
|
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys)
|
rs760380736
|
0.00001
|
NM_004369.4(COL6A3):c.3198C>T (p.Arg1066=)
|
rs200621867
|
0.00001
|
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)
|
rs778403814
|
0.00001
|
NM_004369.4(COL6A3):c.6156+5G>A
|
rs112374074
|
0.00001
|
NM_004369.4(COL6A3):c.6754-9C>G
|
rs886038542
|
0.00001
|
NM_004369.4(COL6A3):c.7029+3A>G
|
rs886044464
|
0.00001
|
NM_004369.4(COL6A3):c.7368G>A (p.Thr2456=)
|
rs778474394
|
0.00001
|
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=)
|
rs375222168
|
0.00001
|
NM_004369.4(COL6A3):c.8256G>A (p.Leu2752=)
|
rs769124771
|
0.00001
|
NM_004369.4(COL6A3):c.8376C>T (p.Asp2792=)
|
rs772967228
|
0.00001
|
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg)
|
rs766320521
|
0.00001
|
NM_004380.3(CREBBP):c.2943A>G (p.Ala981=)
|
rs1053049323
|
0.00001
|
NM_004380.3(CREBBP):c.504G>A (p.Thr168=)
|
rs373310969
|
0.00001
|
NM_004380.3(CREBBP):c.5517C>T (p.Pro1839=)
|
rs760307939
|
0.00001
|
NM_004393.6(DAG1):c.2652C>A (p.Thr884=)
|
rs762428862
|
0.00001
|
NM_004393.6(DAG1):c.498G>A (p.Ser166=)
|
rs794727500
|
0.00001
|
NM_004407.4(DMP1):c.402G>A (p.Leu134=)
|
rs780110476
|
0.00001
|
NM_004463.3(FGD1):c.714C>T (p.Pro238=)
|
rs747008412
|
0.00001
|
NM_004482.4(GALNT3):c.591G>A (p.Ala197=)
|
rs766232837
|
0.00001
|
NM_004484.4(GPC3):c.171G>A (p.Val57=)
|
rs398124166
|
0.00001
|
NM_004519.4(KCNQ3):c.604+10G>T
|
rs541587196
|
0.00001
|
NM_004525.3(LRP2):c.2599A>G (p.Thr867Ala)
|
rs143822500
|
0.00001
|
NM_004560.4(ROR2):c.938-6G>C
|
rs769467387
|
0.00001
|
NM_004817.4(TJP2):c.1056+8G>C
|
rs779964139
|
0.00001
|
NM_004817.4(TJP2):c.1960T>C (p.Leu654=)
|
rs765975804
|
0.00001
|
NM_004817.4(TJP2):c.2239T>C (p.Leu747=)
|
rs886043789
|
0.00001
|
NM_004817.4(TJP2):c.258C>T (p.Val86=)
|
rs530810462
|
0.00001
|
NM_004817.4(TJP2):c.3076G>A (p.Glu1026Lys)
|
rs201202451
|
0.00001
|
NM_004817.4(TJP2):c.3372G>A (p.Thr1124=)
|
rs745427593
|
0.00001
|
NM_004817.4(TJP2):c.3522C>G (p.Ser1174=)
|
rs761272308
|
0.00001
|
NM_004817.4(TJP2):c.61-7267A>G
|
rs896087137
|
0.00001
|
NM_004817.4(TJP2):c.966G>T (p.Arg322=)
|
rs199857597
|
0.00001
|
NM_004820.5(CYP7B1):c.339A>G (p.Val113=)
|
rs770923196
|
0.00001
|
NM_004820.5(CYP7B1):c.999A>G (p.Lys333=)
|
rs746555297
|
0.00001
|
NM_004836.7(EIF2AK3):c.2052C>G (p.Leu684=)
|
rs1013032001
|
0.00001
|
NM_004836.7(EIF2AK3):c.270G>C (p.Pro90=)
|
rs762693700
|
0.00001
|
NM_004839.4(HOMER2):c.33G>A (p.Ala11=)
|
rs201522712
|
0.00001
|
NM_004937.3(CTNS):c.612C>T (p.Asn204=)
|
rs200170842
|
0.00001
|
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=)
|
rs755457098
|
0.00001
|
NM_005005.3(NDUFB9):c.530G>A (p.Arg177Gln)
|
rs780144498
|
0.00001
|
NM_005045.4(RELN):c.1734G>A (p.Leu578=)
|
rs727504126
|
0.00001
|
NM_005188.4(CBL):c.1320C>T (p.Gly440=)
|
rs794727972
|
0.00001
|
NM_005413.4(SIX3):c.876C>G (p.Gly292=)
|
rs886043297
|
0.00001
|
NM_005422.4(TECTA):c.1572C>T (p.Cys524=)
|
rs767426110
|
0.00001
|
NM_005477.3(HCN4):c.2055C>T (p.Ser685=)
|
rs886042819
|
0.00001
|
NM_005477.3(HCN4):c.2523G>A (p.Ser841=)
|
rs768157473
|
0.00001
|
NM_005529.7(HSPG2):c.2664C>T (p.Ser888=)
|
rs560919408
|
0.00001
|
NM_005529.7(HSPG2):c.3747C>T (p.Cys1249=)
|
rs886042933
|
0.00001
|
NM_005529.7(HSPG2):c.8199A>G (p.Ser2733=)
|
rs886044168
|
0.00001
|
NM_005633.4(SOS1):c.2728G>C (p.Asp910His)
|
rs369277679
|
0.00001
|
NM_005708.5(GPC6):c.930G>A (p.Ser310=)
|
rs754858999
|
0.00001
|
NM_005989.4(AKR1D1):c.24C>T (p.His8=)
|
rs138462322
|
0.00001
|
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys)
|
rs201078003
|
0.00001
|
NM_006019.4(TCIRG1):c.60G>A (p.Ala20=)
|
rs111424326
|
0.00001
|
NM_006031.6(PCNT):c.1593G>A (p.Glu531=)
|
rs767430243
|
0.00001
|
NM_006059.4(LAMC3):c.4031-10G>A
|
rs555619019
|
0.00001
|
NM_006059.4(LAMC3):c.4698C>T (p.Ser1566=)
|
rs754122699
|
0.00001
|
NM_006086.4(TUBB3):c.606C>T (p.Ile202=)
|
rs576180572
|
0.00001
|
NM_006129.5(BMP1):c.2745C>T (p.Thr915=)
|
rs374251317
|
0.00001
|
NM_006261.5(PROP1):c.456T>C (p.Ala152=)
|
rs758911793
|
0.00001
|
NM_006261.5(PROP1):c.592T>C (p.Leu198=)
|
rs780774091
|
0.00001
|
NM_006343.3(MERTK):c.1938C>T (p.His646=)
|
rs1309440527
|
0.00001
|
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg)
|
rs534770840
|
0.00001
|
NM_006516.4(SLC2A1):c.1446G>C (p.Leu482=)
|
rs794726996
|
0.00001
|
NM_006516.4(SLC2A1):c.19-4G>A
|
rs398124229
|
0.00001
|
NM_006662.3(SRCAP):c.3484C>T (p.Pro1162Ser)
|
rs753700157
|
0.00001
|
NM_006766.5(KAT6A):c.3026C>T (p.Thr1009Met)
|
rs750975358
|
0.00001
|
NM_006946.4(SPTBN2):c.4833G>C (p.Met1611Ile)
|
rs1328577241
|
0.00001
|
NM_007254.4(PNKP):c.762C>T (p.His254=)
|
rs794727920
|
0.00001
|
NM_007294.4(BRCA1):c.1467G>A (p.Glu489=)
|
rs794726997
|
0.00001
|
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=)
|
rs1800064
|
0.00001
|
NM_007294.4(BRCA1):c.2963C>T (p.Ser988Leu)
|
rs397507206
|
0.00001
|
NM_007294.4(BRCA1):c.4047G>A (p.Thr1349=)
|
rs758515222
|
0.00001
|
NM_007294.4(BRCA1):c.4097-10G>A
|
rs80358057
|
0.00001
|
NM_007294.4(BRCA1):c.4209C>T (p.Asn1403=)
|
rs786201224
|
0.00001
|
NM_007373.4(SHOC2):c.183A>G (p.Gln61=)
|
rs371640183
|
0.00001
|
NM_012186.3(FOXE3):c.834C>T (p.Pro278=)
|
rs886042525
|
0.00001
|
NM_012193.4(FZD4):c.729C>T (p.Ile243=)
|
rs560649393
|
0.00001
|
NM_012210.4(TRIM32):c.1326T>A (p.Ile442=)
|
rs1372713940
|
0.00001
|
NM_012210.4(TRIM32):c.1386G>A (p.Val462=)
|
rs762905941
|
0.00001
|
NM_012210.4(TRIM32):c.807G>A (p.Leu269=)
|
rs1184553729
|
0.00001
|
NM_012254.3(SLC27A5):c.1182+7C>T
|
rs376013474
|
0.00001
|
NM_012254.3(SLC27A5):c.1498G>T (p.Val500Leu)
|
rs748584848
|
0.00001
|
NM_012254.3(SLC27A5):c.169G>A (p.Gly57Ser)
|
rs887693979
|
0.00001
|
NM_012301.4(MAGI2):c.878C>T (p.Thr293Ile)
|
rs587780389
|
0.00001
|
NM_012418.4(FSCN2):c.1274-6C>T
|
rs1048819854
|
0.00001
|
NM_012470.4(TNPO3):c.1810A>G (p.Ile604Val)
|
rs886043402
|
0.00001
|
NM_012470.4(TNPO3):c.189T>C (p.Ala63=)
|
rs755216120
|
0.00001
|
NM_014014.5(SNRNP200):c.3354C>T (p.Ile1118=)
|
rs376352502
|
0.00001
|
NM_014053.4(FLVCR1):c.501G>A (p.Leu167=)
|
rs886043715
|
0.00001
|
NM_014112.5(TRPS1):c.933G>A (p.Arg311=)
|
rs886043713
|
0.00001
|
NM_014141.6(CNTNAP2):c.3402G>A (p.Val1134=)
|
rs727503877
|
0.00001
|
NM_014251.3(SLC25A13):c.1665C>T (p.Gly555=)
|
rs199735534
|
0.00001
|
NM_014324.6(AMACR):c.714C>G (p.Pro238=)
|
rs200824585
|
0.00001
|
NM_014363.6(SACS):c.8133G>A (p.Ser2711=)
|
rs143386746
|
0.00001
|
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)
|
rs772742353
|
0.00001
|
NM_014780.5(CUL7):c.4068A>G (p.Glu1356=)
|
rs886043610
|
0.00001
|
NM_014795.4(ZEB2):c.773G>A (p.Arg258Gln)
|
rs730881173
|
0.00001
|
NM_014920.5(CILK1):c.1412C>T (p.Thr471Met)
|
rs56164633
|
0.00001
|
NM_014920.5(CILK1):c.816A>T (p.Arg272=)
|
rs868057037
|
0.00001
|
NM_015102.5(NPHP4):c.3234C>G (p.Ala1078=)
|
rs1036816659
|
0.00001
|
NM_015102.5(NPHP4):c.3927C>T (p.Asp1309=)
|
rs377183096
|
0.00001
|
NM_015102.5(NPHP4):c.4143C>T (p.Val1381=)
|
rs766613810
|
0.00001
|
NM_015102.5(NPHP4):c.4182G>A (p.Ala1394=)
|
rs754549864
|
0.00001
|
NM_015102.5(NPHP4):c.510C>T (p.Pro170=)
|
rs545943420
|
0.00001
|
NM_015141.4(GPD1L):c.787C>T (p.Leu263=)
|
rs754888410
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=)
|
rs1555604462
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=)
|
rs779429646
|
0.00001
|
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr)
|
rs780770984
|
0.00001
|
NM_015295.3(SMCHD1):c.3277-5C>T
|
rs542259388
|
0.00001
|
NM_015311.3(OBSL1):c.2681-7C>T
|
rs1193236223
|
0.00001
|
NM_015311.3(OBSL1):c.4812C>T (p.Ala1604=)
|
rs564855597
|
0.00001
|
NM_015404.4(WHRN):c.1632T>C (p.Thr544=)
|
rs759107735
|
0.00001
|
NM_015570.4(AUTS2):c.770C>G (p.Pro257Arg)
|
rs200108105
|
0.00001
|
NM_015629.4(PRPF31):c.837C>T (p.Ile279=)
|
rs1374316824
|
0.00001
|
NM_016239.4(MYO15A):c.3841G>A (p.Gly1281Arg)
|
rs576515898
|
0.00001
|
NM_016729.3(FOLR1):c.261C>T (p.Asn87=)
|
rs375444839
|
0.00001
|
NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=)
|
rs368963607
|
0.00001
|
NM_017668.3(NDE1):c.513T>C (p.Asp171=)
|
rs794727785
|
0.00001
|
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)
|
rs200730202
|
0.00001
|
NM_017777.4(MKS1):c.959-8T>G
|
rs763444295
|
0.00001
|
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys)
|
rs201769233
|
0.00001
|
NM_017780.4(CHD7):c.5828G>A (p.Arg1943Gln)
|
rs753723769
|
0.00001
|
NM_017780.4(CHD7):c.768C>T (p.Phe256=)
|
rs727503859
|
0.00001
|
NM_018006.5(TRMU):c.579G>T (p.Gly193=)
|
rs1294405938
|
0.00001
|
NM_018006.5(TRMU):c.651+9G>A
|
rs1006261196
|
0.00001
|
NM_018006.5(TRMU):c.705+10del
|
rs1569081805
|
0.00001
|
NM_018006.5(TRMU):c.879C>T (p.Pro293=)
|
rs781401971
|
0.00001
|
NM_018006.5(TRMU):c.954C>T (p.Pro318=)
|
rs758271660
|
0.00001
|
NM_018100.4(EFHC1):c.564A>G (p.Gln188=)
|
rs766444850
|
0.00001
|
NM_018136.5(ASPM):c.174A>T (p.Gly58=)
|
rs908430857
|
0.00001
|
NM_018136.5(ASPM):c.4035A>G (p.Lys1345=)
|
rs537034419
|
0.00001
|
NM_018451.5(CPAP):c.2457T>C (p.Tyr819=)
|
rs780573822
|
0.00001
|
NM_018668.5(VPS33B):c.75G>A (p.Gln25=)
|
rs1289650070
|
0.00001
|
NM_019066.5(MAGEL2):c.2919G>A (p.Pro973=)
|
rs544938560
|
0.00001
|
NM_019066.5(MAGEL2):c.42G>A (p.Pro14=)
|
rs794726942
|
0.00001
|
NM_020223.4(FAM20C):c.915C>T (p.Tyr305=)
|
rs150808056
|
0.00001
|
NM_020247.5(COQ8A):c.819G>A (p.Ala273=)
|
rs371866536
|
0.00001
|
NM_020247.5(COQ8A):c.957C>T (p.Asp319=)
|
rs764147237
|
0.00001
|
NM_020436.5(SALL4):c.1567G>C (p.Gly523Arg)
|
rs113920122
|
0.00001
|
NM_020754.4(ARHGAP31):c.1430C>T (p.Pro477Leu)
|
rs200233879
|
0.00001
|
NM_020822.3(KCNT1):c.2594+6G>A
|
rs973179248
|
0.00001
|
NM_020975.6(RET):c.867+4del
|
rs398124368
|
0.00001
|
NM_021167.5(GATAD1):c.*4A>G
|
rs768338694
|
0.00001
|
NM_021939.4(FKBP10):c.1399+8G>T
|
rs782073490
|
0.00001
|
NM_022081.6(HPS4):c.2040C>T (p.Ser680=)
|
rs752931351
|
0.00001
|
NM_022124.6(CDH23):c.4782C>T (p.Arg1594=)
|
rs756336099
|
0.00001
|
NM_022124.6(CDH23):c.8065-8G>A
|
rs376332131
|
0.00001
|
NM_022124.6(CDH23):c.9759C>T (p.Asp3253=)
|
rs540567272
|
0.00001
|
NM_022436.3(ABCG5):c.1446C>T (p.Phe482=)
|
rs886044572
|
0.00001
|
NM_022436.3(ABCG5):c.1602G>C (p.Val534=)
|
rs1280735521
|
0.00001
|
NM_022436.3(ABCG5):c.780T>C (p.Phe260=)
|
rs765847597
|
0.00001
|
NM_022436.3(ABCG5):c.828G>A (p.Thr276=)
|
rs539178581
|
0.00001
|
NM_022437.3(ABCG8):c.1059G>C (p.Val353=)
|
rs751866338
|
0.00001
|
NM_022437.3(ABCG8):c.1211+7A>T
|
rs568899040
|
0.00001
|
NM_022437.3(ABCG8):c.1212-10G>C
|
rs765938367
|
0.00001
|
NM_022437.3(ABCG8):c.1533C>T (p.Tyr511=)
|
rs763640657
|
0.00001
|
NM_022437.3(ABCG8):c.1789C>A (p.Arg597=)
|
rs776778929
|
0.00001
|
NM_022437.3(ABCG8):c.1923C>T (p.Tyr641=)
|
rs369023184
|
0.00001
|
NM_022437.3(ABCG8):c.579G>A (p.Ala193=)
|
rs747555833
|
0.00001
|
NM_022455.5(NSD1):c.2103G>A (p.Lys701=)
|
rs727504053
|
0.00001
|
NM_022455.5(NSD1):c.3355C>G (p.Pro1119Ala)
|
rs727504054
|
0.00001
|
NM_022455.5(NSD1):c.3762C>T (p.Pro1254=)
|
rs794727734
|
0.00001
|
NM_022726.4(ELOVL4):c.192A>C (p.Pro64=)
|
rs201014417
|
0.00001
|
NM_023110.3(FGFR1):c.615C>T (p.Gly205=)
|
rs781689191
|
0.00001
|
NM_024301.5(FKRP):c.703C>T (p.Leu235=)
|
rs1428469954
|
0.00001
|
NM_024408.4(NOTCH2):c.1134A>G (p.Ala378=)
|
rs782178170
|
0.00001
|
NM_024408.4(NOTCH2):c.1791C>T (p.Pro597=)
|
rs781999109
|
0.00001
|
NM_024408.4(NOTCH2):c.3252G>A (p.Glu1084=)
|
rs372751663
|
0.00001
|
NM_024408.4(NOTCH2):c.4992G>A (p.Val1664=)
|
rs587748556
|
0.00001
|
NM_024408.4(NOTCH2):c.6222C>T (p.Thr2074=)
|
rs764335447
|
0.00001
|
NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln)
|
rs587654671
|
0.00001
|
NM_024408.4(NOTCH2):c.822T>G (p.Val274=)
|
rs782642000
|
0.00001
|
NM_024596.5(MCPH1):c.954T>C (p.Ala318=)
|
rs770723949
|
0.00001
|
NM_024649.5(BBS1):c.1743C>T (p.His581=)
|
rs61890368
|
0.00001
|
NM_024675.4(PALB2):c.2505C>T (p.Ser835=)
|
rs756502783
|
0.00001
|
NM_024685.4(BBS10):c.483A>G (p.Lys161=)
|
rs748732850
|
0.00001
|
NM_024757.5(EHMT1):c.575C>T (p.Pro192Leu)
|
rs35285441
|
0.00001
|
NM_025074.7(FRAS1):c.6876T>C (p.Asp2292=)
|
rs779794904
|
0.00001
|
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)
|
rs765002773
|
0.00001
|
NM_030665.4(RAI1):c.1850C>A (p.Ala617Asp)
|
rs549244691
|
0.00001
|
NM_030665.4(RAI1):c.1937A>C (p.His646Pro)
|
rs757197196
|
0.00001
|
NM_030665.4(RAI1):c.3720C>T (p.Val1240=)
|
rs778274557
|
0.00001
|
NM_030665.4(RAI1):c.4616G>A (p.Arg1539His)
|
rs776440167
|
0.00001
|
NM_032119.4(ADGRV1):c.10066A>G (p.Ile3356Val)
|
rs727503078
|
0.00001
|
NM_032119.4(ADGRV1):c.1140A>G (p.Gln380=)
|
rs373902384
|
0.00001
|
NM_032119.4(ADGRV1):c.12176C>T (p.Thr4059Met)
|
rs376833921
|
0.00001
|
NM_032119.4(ADGRV1):c.1254A>G (p.Thr418=)
|
rs1315101894
|
0.00001
|
NM_032119.4(ADGRV1):c.14304G>A (p.Ser4768=)
|
rs373822878
|
0.00001
|
NM_032119.4(ADGRV1):c.15959A>T (p.Asp5320Val)
|
rs398124425
|
0.00001
|
NM_032119.4(ADGRV1):c.16226G>A (p.Arg5409Gln)
|
rs567881943
|
0.00001
|
NM_032119.4(ADGRV1):c.16745C>T (p.Thr5582Met)
|
rs771468922
|
0.00001
|
NM_032119.4(ADGRV1):c.17349A>G (p.Ala5783=)
|
rs747992951
|
0.00001
|
NM_032119.4(ADGRV1):c.17794A>C (p.Arg5932=)
|
rs747728554
|
0.00001
|
NM_032119.4(ADGRV1):c.17973+7A>G
|
rs751094041
|
0.00001
|
NM_032119.4(ADGRV1):c.2567A>G (p.Tyr856Cys)
|
rs558804189
|
0.00001
|
NM_032119.4(ADGRV1):c.2735-8T>C
|
rs1181016921
|
0.00001
|
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=)
|
rs369910075
|
0.00001
|
NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp)
|
rs794727329
|
0.00001
|
NM_032119.4(ADGRV1):c.4550G>T (p.Arg1517Ile)
|
rs756555904
|
0.00001
|
NM_032119.4(ADGRV1):c.5379T>C (p.Thr1793=)
|
rs772972763
|
0.00001
|
NM_032119.4(ADGRV1):c.754A>G (p.Ile252Val)
|
rs1299020576
|
0.00001
|
NM_032119.4(ADGRV1):c.8156-6T>C
|
rs574939589
|
0.00001
|
NM_032119.4(ADGRV1):c.8292G>A (p.Ser2764=)
|
rs778011573
|
0.00001
|
NM_032119.4(ADGRV1):c.8791A>G (p.Met2931Val)
|
rs1250073917
|
0.00001
|
NM_032119.4(ADGRV1):c.8938T>C (p.Leu2980=)
|
rs397517442
|
0.00001
|
NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val)
|
rs546358774
|
0.00001
|
NM_033056.4(PCDH15):c.4608A>G (p.Val1536=)
|
rs727504070
|
0.00001
|
NM_033056.4(PCDH15):c.5805G>T (p.Gly1935=)
|
rs727504069
|
0.00001
|
NM_033109.5(PNPT1):c.1923G>A (p.Gln641=)
|
rs779794474
|
0.00001
|
NM_033337.3(CAV3):c.-2C>T
|
rs772475990
|
0.00001
|
NM_033337.3(CAV3):c.117G>C (p.Val39=)
|
rs753959620
|
0.00001
|
NM_053025.4(MYLK):c.588+10C>T
|
rs886038709
|
0.00001
|
NM_080680.3(COL11A2):c.1298G>A (p.Arg433Gln)
|
rs762813373
|
0.00001
|
NM_080916.3(DGUOK):c.143-4G>A
|
rs544350167
|
0.00001
|
NM_080916.3(DGUOK):c.256-6C>T
|
rs568816337
|
0.00001
|
NM_080916.3(DGUOK):c.405G>A (p.Lys135=)
|
rs775871024
|
0.00001
|
NM_080916.3(DGUOK):c.808-10C>G
|
rs758503693
|
0.00001
|
NM_130468.4(CHST14):c.198C>G (p.Ala66=)
|
rs1014902072
|
0.00001
|
NM_130837.3(OPA1):c.1398T>C (p.Ala466=)
|
rs886043473
|
0.00001
|
NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg)
|
rs139106405
|
0.00001
|
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=)
|
rs371296838
|
0.00001
|
NM_133379.5(TTN):c.11940T>C (p.Asn3980=)
|
rs923904530
|
0.00001
|
NM_133379.5(TTN):c.14055A>G (p.Arg4685=)
|
rs1466986172
|
0.00001
|
NM_133379.5(TTN):c.14206C>T (p.Leu4736Phe)
|
rs770663802
|
0.00001
|
NM_133433.4(NIPBL):c.1077A>G (p.Thr359=)
|
rs767162047
|
0.00001
|
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=)
|
rs555179389
|
0.00001
|
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=)
|
rs372730081
|
0.00001
|
NM_133433.4(NIPBL):c.772-8A>G
|
rs398124473
|
0.00001
|
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=)
|
rs1562217633
|
0.00001
|
NM_138694.4(PKHD1):c.6042C>T (p.Tyr2014=)
|
rs373208457
|
0.00001
|
NM_138694.4(PKHD1):c.642G>A (p.Gln214=)
|
rs762584715
|
0.00001
|
NM_138694.4(PKHD1):c.7308T>G (p.Thr2436=)
|
rs771622189
|
0.00001
|
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=)
|
rs771563591
|
0.00001
|
NM_138694.4(PKHD1):c.8997A>G (p.Pro2999=)
|
rs777095602
|
0.00001
|
NM_144573.4(NEXN):c.1653A>G (p.Leu551=)
|
rs794727078
|
0.00001
|
NM_145200.5(CABP4):c.102G>A (p.Glu34=)
|
rs536552621
|
0.00001
|
NM_147127.5(EVC2):c.2758C>T (p.Leu920Phe)
|
rs762404021
|
0.00001
|
NM_152564.5(VPS13B):c.10938C>T (p.Val3646=)
|
rs758028194
|
0.00001
|
NM_152564.5(VPS13B):c.2651-10T>G
|
rs398124330
|
0.00001
|
NM_152564.5(VPS13B):c.3690T>C (p.Thr1230=)
|
rs751715193
|
0.00001
|
NM_152564.5(VPS13B):c.6654A>G (p.Leu2218=)
|
rs1046756662
|
0.00001
|
NM_152594.3(SPRED1):c.684+50A>T
|
rs200338097
|
0.00001
|
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=)
|
rs558637226
|
0.00001
|
NM_153240.5(NPHP3):c.306C>T (p.Arg102=)
|
rs762134618
|
0.00001
|
NM_153676.4(USH1C):c.2391G>A (p.Val797=)
|
rs375973884
|
0.00001
|
NM_153676.4(USH1C):c.966G>C (p.Arg322=)
|
rs748749433
|
0.00001
|
NM_170707.4(LMNA):c.111G>A (p.Glu37=)
|
rs886038906
|
0.00001
|
NM_170707.4(LMNA):c.1488+8G>A
|
rs762836610
|
0.00001
|
NM_170707.4(LMNA):c.498G>A (p.Arg166=)
|
rs886043189
|
0.00001
|
NM_170707.4(LMNA):c.643C>T (p.Leu215=)
|
rs397517905
|
0.00001
|
NM_170707.4(LMNA):c.732G>A (p.Ala244=)
|
rs756952925
|
0.00001
|
NM_172107.4(KCNQ2):c.1209C>T (p.Leu403=)
|
rs752280961
|
0.00001
|
NM_172107.4(KCNQ2):c.2052C>T (p.Gly684=)
|
rs764444302
|
0.00001
|
NM_173495.3(PTCHD1):c.1003G>A (p.Val335Ile)
|
rs727504113
|
0.00001
|
NM_176824.3(BBS7):c.189G>T (p.Gly63=)
|
rs541833400
|
0.00001
|
NM_176824.3(BBS7):c.213G>A (p.Leu71=)
|
rs778509860
|
0.00001
|
NM_178335.3(CCDC50):c.1430-9C>G
|
rs794727079
|
0.00001
|
NM_182914.3(SYNE2):c.18393C>T (p.Ile6131=)
|
rs370317926
|
0.00001
|
NM_182961.4(SYNE1):c.10444-6T>C
|
rs376803162
|
0.00001
|
NM_182961.4(SYNE1):c.10650C>T (p.Asn3550=)
|
rs772377391
|
0.00001
|
NM_182961.4(SYNE1):c.11490G>A (p.Gln3830=)
|
rs746623465
|
0.00001
|
NM_182961.4(SYNE1):c.13299C>T (p.His4433=)
|
rs763090658
|
0.00001
|
NM_182961.4(SYNE1):c.14079A>G (p.Gln4693=)
|
rs778820710
|
0.00001
|
NM_182961.4(SYNE1):c.19815T>A (p.Gly6605=)
|
rs776418227
|
0.00001
|
NM_182961.4(SYNE1):c.20322G>A (p.Glu6774=)
|
rs758437949
|
0.00001
|
NM_182961.4(SYNE1):c.21768G>A (p.Gln7256=)
|
rs1554226552
|
0.00001
|
NM_182961.4(SYNE1):c.23145+6T>G
|
rs794727081
|
0.00001
|
NM_182961.4(SYNE1):c.24633C>T (p.Ile8211=)
|
rs201078523
|
0.00001
|
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=)
|
rs765865910
|
0.00001
|
NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=)
|
rs758375991
|
0.00001
|
NM_194248.3(OTOF):c.2690G>A (p.Arg897Gln)
|
rs760896684
|
0.00001
|
NM_198506.5(LRIT3):c.654C>T (p.Val218=)
|
rs763629262
|
0.00001
|
NM_198525.3(KIF7):c.510A>G (p.Glu170=)
|
rs761029778
|
0.00001
|
NM_198859.4(PRICKLE2):c.516G>A (p.Leu172=)
|
rs727504105
|
0.00001
|
NM_198965.2(PTHLH):c.408G>A (p.Gln136=)
|
rs753350587
|
0.00001
|
NM_198999.3(SLC26A5):c.117T>G (p.Pro39=)
|
rs764308981
|
0.00001
|
NM_201384.3(PLEC):c.11562C>T (p.Arg3854=)
|
rs781931763
|
0.00001
|
NM_201384.3(PLEC):c.12354C>T (p.Leu4118=)
|
rs782692436
|
0.00001
|
NM_201384.3(PLEC):c.13023G>A (p.Val4341=)
|
rs567904252
|
0.00001
|
NM_201384.3(PLEC):c.8066G>A (p.Arg2689His)
|
rs782161008
|
0.00001
|
NM_201384.3(PLEC):c.8175G>A (p.Thr2725=)
|
rs1209777415
|
0.00001
|
NM_201384.3(PLEC):c.8202G>A (p.Ala2734=)
|
rs782252692
|
0.00001
|
NM_201384.3(PLEC):c.8735C>T (p.Ala2912Val)
|
rs935096656
|
0.00001
|
NM_201384.3(PLEC):c.9130C>T (p.Leu3044=)
|
rs782038680
|
0.00001
|
NM_201525.4(ADGRG1):c.1191C>T (p.Ala397=)
|
rs1367685651
|
0.00001
|
NM_201525.4(ADGRG1):c.1578G>A (p.Thr526=)
|
rs727503955
|
0.00001
|
NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val)
|
rs727505097
|
0.00001
|
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=)
|
rs139156019
|
0.00001
|
NM_206933.4(USH2A):c.6958-10A>G
|
rs727504213
|
0.00001
|
NM_207346.3(TSEN54):c.1276G>A (p.Val426Met)
|
rs747473434
|
0.00001
|
NM_207346.3(TSEN54):c.1527C>T (p.Asp509=)
|
rs201415896
|
0.00001
|
NM_207361.6(FREM2):c.7177G>A (p.Ala2393Thr)
|
rs769767420
|
0.00001
|
NM_213599.3(ANO5):c.1800+5G>A
|
rs794727179
|
0.00001
|
NM_213599.3(ANO5):c.1801-9T>C
|
rs202034123
|
0.00001
|
NM_213599.3(ANO5):c.185A>G (p.Gln62Arg)
|
rs754497228
|
0.00001
|
NC_000011.10:g.17634839_17634845dup
|
rs1295062471
|
|
NM_000018.4(ACADVL):c.1434+14T>A
|
rs202217537
|
|
NM_000018.4(ACADVL):c.678C>A (p.Ala226=)
|
rs372114185
|
|
NM_000023.4(SGCA):c.861G>A (p.Leu287=)
|
rs1555569293
|
|
NM_000038.6(APC):c.4212C>T (p.Ser1404=)
|
rs144655979
|
|
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)
|
rs746358240
|
|
NM_000059.4(BRCA2):c.10102T>C (p.Ser3368Pro)
|
rs786205482
|
|
NM_000059.4(BRCA2):c.1909+11C>T
|
rs794726968
|
|
NM_000059.4(BRCA2):c.1909+9G>T
|
rs794726969
|
|
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile)
|
rs276174831
|
|
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=)
|
rs206076
|
|
NM_000059.4(BRCA2):c.67+16A>T
|
rs529148674
|
|
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser)
|
rs587781485
|
|
NM_000070.3(CAPN3):c.1227A>C (p.Thr409=)
|
rs111806046
|
|
NM_000070.3(CAPN3):c.1227A>G (p.Thr409=)
|
rs111806046
|
|
NM_000088.4(COL1A1):c.2283C>T (p.Gly761=)
|
rs759665341
|
|
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=)
|
rs1555572418
|
|
NM_000088.4(COL1A1):c.516C>T (p.Thr172=)
|
rs377195143
|
|
NM_000091.5(COL4A3):c.3825C>T (p.His1275=)
|
rs143380907
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup)
|
rs773994971
|
|
NM_000101.4(CYBA):c.204-4C>A
|
rs377055239
|
|
NM_000101.4(CYBA):c.524CGG[3] (p.Ala176dup)
|
rs760275837
|
|
NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=)
|
rs146770394
|
|
NM_000117.3(EMD):c.144C>G (p.Leu48=)
|
rs200537612
|
|
NM_000117.3(EMD):c.460A>G (p.Met154Val)
|
rs782806462
|
|
NM_000117.3(EMD):c.466G>C (p.Gly156Arg)
|
rs144594695
|
|
NM_000117.3(EMD):c.610C>G (p.Arg204Gly)
|
rs782299893
|
|
NM_000124.4(ERCC6):c.2287-4G>A
|
rs375617750
|
|
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser)
|
rs574272317
|
|
NM_000136.3(FANCC):c.345+4AG[2]
|
rs755657969
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.5358T>C (p.Val1786=)
|
rs1057521207
|
|
NM_000141.5(FGFR2):c.1086G>C (p.Ala362=)
|
rs151250769
|
|
NM_000141.5(FGFR2):c.2040C>T (p.Tyr680=)
|
rs751495618
|
|
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met)
|
rs199544087
|
|
NM_000152.5(GAA):c.1416C>G (p.Thr472=)
|
rs368492669
|
|
NM_000152.5(GAA):c.1434G>A (p.Gly478=)
|
rs886043285
|
|
NM_000152.5(GAA):c.1438-7_1438-5del
|
rs764583466
|
|
NM_000152.5(GAA):c.1536C>T (p.Phe512=)
|
rs143491365
|
|
NM_000152.5(GAA):c.1722C>T (p.Leu574=)
|
rs561357893
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
NM_000152.5(GAA):c.2647-6G>A
|
rs201525743
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
NM_000159.4(GCDH):c.1167G>A (p.Leu389=)
|
rs398123191
|
|
NM_000168.6(GLI3):c.2826G>T (p.Pro942=)
|
rs34245321
|
|
NM_000179.3(MSH6):c.2752C>T (p.His918Tyr)
|
rs1558666591
|
|
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3393T>C (p.Leu1131=)
|
rs757716138
|
|
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)
|
rs552184470
|
|
NM_000190.4(HMBS):c.962G>A (p.Arg321His)
|
rs150428209
|
|
NM_000194.3(HPRT1):c.134+6_134+9del
|
rs794727238
|
|
NM_000195.5(HPS1):c.1653T>G (p.Thr551=)
|
rs765995574
|
|
NM_000202.8(IDS):c.419-16dup
|
rs781852261
|
|
NM_000208.4(INSR):c.3165G>A (p.Ala1055=)
|
rs201445608
|
|
NM_000208.4(INSR):c.653-9T>C
|
rs868296217
|
|
NM_000214.3(JAG1):c.2859T>C (p.Tyr953=)
|
rs1388481192
|
|
NM_000214.3(JAG1):c.294C>G (p.Ser98=)
|
rs79338570
|
|
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)
|
rs112113213
|
|
NM_000218.3(KCNQ1):c.879C>A (p.Arg293=)
|
rs181106858
|
|
NM_000231.3(SGCG):c.507G>T (p.Gly169=)
|
rs199905729
|
|
NM_000232.5(SGCB):c.430-5dup
|
rs762831481
|
|
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup)
|
rs886044103
|
|
NM_000235.4(LIPA):c.1032C>G (p.His344Gln)
|
rs779601441
|
|
NM_000235.4(LIPA):c.429-10T>G
|
rs1554865817
|
|
NM_000235.4(LIPA):c.539-5C>A
|
rs2297472
|
|
NM_000235.4(LIPA):c.615C>G (p.Ser205=)
|
rs143930279
|
|
NM_000235.4(LIPA):c.615C>T (p.Ser205=)
|
rs143930279
|
|
NM_000235.4(LIPA):c.618C>T (p.Val206=)
|
rs763651849
|
|
NM_000235.4(LIPA):c.885C>T (p.His295=)
|
rs886044197
|
|
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=)
|
rs144926928
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
NM_000245.4(MET):c.2584-7del
|
rs587780736
|
|
NM_000257.4(MYH7):c.1755C>T (p.Ile585=)
|
rs201860580
|
|
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile)
|
rs727503262
|
|
NM_000260.4(MYO7A):c.1056G>A (p.Leu352=)
|
rs886044867
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=)
|
rs111033287
|
|
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)
|
rs111033287
|
|
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val)
|
rs948962
|
|
NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=)
|
rs149691476
|
|
NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=)
|
rs773564643
|
|
NM_000271.5(NPC1):c.1521C>T (p.Ala507=)
|
rs780100866
|
|
NM_000271.5(NPC1):c.1947+10G>T
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGC
|
rs1555634676
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGG
|
rs1555634618
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGG
|
rs1555634618
|
|
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)
|
rs145362908
|
|
NM_000271.5(NPC1):c.57+7G>A
|
rs886042901
|
|
NM_000275.3(OCA2):c.1015G>T (p.Ala339Ser)
|
rs148468031
|
|
NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys)
|
rs375288192
|
|
NM_000287.4(PEX6):c.2301-5_2301-2del
|
rs748032659
|
|
NM_000287.4(PEX6):c.855C>A (p.Pro285=)
|
rs757897959
|
|
NM_000288.4(PEX7):c.130+10C>A
|
rs794726882
|
|
NM_000288.4(PEX7):c.330C>T (p.His110=)
|
rs199648976
|
|
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)
|
rs34667348
|
|
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp)
|
rs112030253
|
|
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=)
|
rs199422210
|
|
NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys)
|
rs749666891
|
|
NM_000316.3(PTH1R):c.1716C>T (p.Asp572=)
|
rs200062157
|
|
NM_000327.4(ROM1):c.213G>A (p.Ala71=)
|
rs886042979
|
|
NM_000334.4(SCN4A):c.483-5C>G
|
rs191547933
|
|
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)
|
rs730880211
|
|
NM_000337.6(SGCD):c.516A>G (p.Thr172=)
|
rs753952200
|
|
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)
|
rs138475920
|
|
NM_000350.3(ABCA4):c.5880C>T (p.Val1960=)
|
rs746250336
|
|
NM_000350.3(ABCA4):c.870G>A (p.Arg290=)
|
rs794727902
|
|
NM_000360.4(TH):c.342G>A (p.Glu114=)
|
rs886038763
|
|
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp)
|
rs377282860
|
|
NM_000388.4(CASR):c.2229C>T (p.Leu743=)
|
rs372578790
|
|
NM_000388.4(CASR):c.2901C>A (p.Ile967=)
|
rs199594582
|
|
NM_000391.4(TPP1):c.244C>T (p.Leu82=)
|
rs794727623
|
|
NM_000391.4(TPP1):c.687+20C>T
|
rs569432039
|
|
NM_000392.5(ABCC2):c.1434G>A (p.Ala478=)
|
rs4267009
|
|
NM_000392.5(ABCC2):c.1446C>T (p.Thr482=)
|
rs113646094
|
|
NM_000392.5(ABCC2):c.2034C>T (p.Ser678=)
|
rs1554850241
|
|
NM_000392.5(ABCC2):c.2620+10_2620+12del
|
rs764566414
|
|
NM_000392.5(ABCC2):c.3057G>A (p.Gln1019=)
|
rs144521346
|
|
NM_000392.5(ABCC2):c.3525C>G (p.Ala1175=)
|
rs1554853606
|
|
NM_000392.5(ABCC2):c.417G>T (p.Ser139=)
|
rs145350474
|
|
NM_000392.5(ABCC2):c.4449C>T (p.Phe1483=)
|
rs756299268
|
|
NM_000392.5(ABCC2):c.601C>T (p.Leu201=)
|
rs749655460
|
|
NM_000392.5(ABCC2):c.636C>A (p.Ile212=)
|
rs1564673185
|
|
NM_000414.4(HSD17B4):c.1768-6_1768-4del
|
rs755128532
|
|
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile)
|
rs200796753
|
|
NM_000441.2(SLC26A4):c.1572C>T (p.Ile524=)
|
rs1562837305
|
|
NM_000443.4(ABCB4):c.102G>T (p.Thr34=)
|
rs1277340029
|
|
NM_000443.4(ABCB4):c.1413C>T (p.Ile471=)
|
rs771303478
|
|
NM_000443.4(ABCB4):c.207A>G (p.Ser69=)
|
rs914166042
|
|
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=)
|
rs8187802
|
|
NM_000443.4(ABCB4):c.303G>A (p.Ser101=)
|
rs886044650
|
|
NM_000443.4(ABCB4):c.3244C>T (p.Leu1082=)
|
rs1562950567
|
|
NM_000451.4(SHOX):c.85AAG[1] (p.Lys30del)
|
rs776789883
|
|
NM_000452.3(SLC10A2):c.1005G>C (p.Ser335=)
|
rs201571450
|
|
NM_000452.3(SLC10A2):c.269T>C (p.Phe90Ser)
|
rs199894506
|
|
NM_000452.3(SLC10A2):c.39T>C (p.Val13=)
|
rs201994393
|
|
NM_000452.3(SLC10A2):c.39T>G (p.Val13=)
|
rs201994393
|
|
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
|
rs138986885
|
|
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=)
|
rs761684626
|
|
NM_000458.4(HNF1B):c.1614C>T (p.Ser538=)
|
rs1568636744
|
|
NM_000458.4(HNF1B):c.300C>T (p.Thr100=)
|
rs369134247
|
|
NM_000458.4(HNF1B):c.345-4C>T
|
rs200590728
|
|
NM_000458.4(HNF1B):c.657C>G (p.Ser219=)
|
rs148713761
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
NM_000466.3(PEX1):c.363G>A (p.Leu121=)
|
rs200866361
|
|
NM_000466.3(PEX1):c.453G>A (p.Thr151=)
|
rs368714078
|
|
NM_000478.6(ALPL):c.921G>A (p.Pro307=)
|
rs1553414111
|
|
NM_000489.6(ATRX):c.1446A>G (p.Glu482=)
|
rs886044778
|
|
NM_000492.4(CFTR):c.1365G>T (p.Ala455=)
|
rs79074685
|
|
NM_000492.4(CFTR):c.1446T>A (p.Ile482=)
|
rs914422460
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.960A>G (p.Leu320=)
|
rs56093012
|
|
NM_000493.4(COL10A1):c.720G>A (p.Pro240=)
|
rs112875740
|
|
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)
|
rs184649564
|
|
NM_000515.5(GH1):c.16C>A (p.Arg6=)
|
rs140576665
|
|
NM_000516.7(GNAS):c.213-5A>G
|
rs763548893
|
|
NM_000516.7(GNAS):c.531-13_531-10del
|
rs576071932
|
|
NM_000535.7(PMS2):c.164-5T>C
|
rs1554305071
|
|
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)
|
rs1805322
|
|
NM_000540.3(RYR1):c.12852CACGGCGGC[1] (p.4285TAA[1])
|
rs398123469
|
|
NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal)
|
rs796065337
|
|
NM_000540.3(RYR1):c.12990C>G (p.Thr4330=)
|
rs184450380
|
|
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)
|
rs794727985
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu)
|
rs145167688
|
|
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=)
|
rs369466056
|
|
NM_000540.3(RYR1):c.6150G>A (p.Glu2050=)
|
rs727504131
|
|
NM_000540.3(RYR1):c.6904C>T (p.Leu2302=)
|
rs886042146
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000545.8(HNF1A):c.-167TGGGGGT[3]
|
rs538476099
|
|
NM_000546.6(TP53):c.559+8G>A
|
rs775915220
|
|
NM_000548.5(TSC2):c.1258-10C>G
|
rs794727093
|
|
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val)
|
rs764725850
|
|
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln)
|
rs45473098
|
|
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr)
|
rs147719291
|
|
NM_000553.6(WRN):c.1518AGA[4] (p.Glu510del)
|
rs781777438
|
|
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)
|
rs575583988
|
|
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=)
|
rs199538058
|
|
NM_000719.7(CACNA1C):c.5706A>G (p.Glu1902=)
|
rs537002656
|
|
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=)
|
rs45588436
|
|
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp)
|
rs35873579
|
|
NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=)
|
rs771343931
|
|
NM_000784.4(CYP27A1):c.1102_1104delinsTTA (p.Val368Leu)
|
rs886043512
|
|
NM_000784.4(CYP27A1):c.1371C>T (p.Thr457=)
|
rs1177463640
|
|
NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr)
|
rs72551323
|
|
NM_000784.4(CYP27A1):c.693A>T (p.Arg231=)
|
rs1187804477
|
|
NM_000875.5(IGF1R):c.885G>T (p.Gly295=)
|
rs56303650
|
|
NM_000883.4(IMPDH1):c.1362C>A (p.Thr454=)
|
rs62481098
|
|
NM_001004334.4(GPR179):c.582C>A (p.Thr194=)
|
rs756762102
|
|
NM_001017995.3(SH3PXD2B):c.1063-7G>T
|
rs186443822
|
|
NM_001017995.3(SH3PXD2B):c.1063-9_1063-8delinsCT
|
rs797044638
|
|
NM_001017995.3(SH3PXD2B):c.1422G>A (p.Pro474=)
|
rs199727236
|
|
NM_001024630.4(RUNX2):c.172CAACAGCAGCAGCAGCAGCAG[1] (p.Gln65_Gln71del)
|
rs774172072
|
|
NM_001025295.3(IFITM5):c.120G>A (p.Ser40=)
|
rs79625057
|
|
NM_001029883.3(PCARE):c.2346A>G (p.Gln782=)
|
rs181545106
|
|
NM_001029883.3(PCARE):c.2950C>A (p.Arg984=)
|
rs774215025
|
|
NM_001029883.3(PCARE):c.3813C>T (p.His1271=)
|
rs369662857
|
|
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT
|
rs727504630
|
|
NM_001039141.3(TRIOBP):c.6472+14G>T
|
rs45503898
|
|
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)
|
rs200138205
|
|
NM_001042432.2(CLN3):c.537C>G (p.Ala179=)
|
rs147667964
|
|
NM_001042472.3(ABHD12):c.405C>A (p.Asp135Glu)
|
rs147070618
|
|
NM_001042472.3(ABHD12):c.788-10_788-7del
|
rs565270893
|
|
NM_001048166.1(STIL):c.2070A>T (p.Ser690=)
|
rs367887740
|
|
NM_001048166.1(STIL):c.873-6G>T
|
rs375670720
|
|
NM_001048174.2(MUTYH):c.633A>G (p.Val211=)
|
rs1557474374
|
|
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=)
|
rs371653610
|
|
NM_001077365.2(POMT1):c.1749C>G (p.Leu583=)
|
rs755379319
|
|
NM_001077365.2(POMT1):c.57T>C (p.Leu19=)
|
rs886043325
|
|
NM_001077525.3(MTMR14):c.1089C>T (p.Ile363=)
|
rs769182078
|
|
NM_001079802.2(FKTN):c.1179G>C (p.Leu393=)
|
rs369117043
|
|
NM_001079802.2(FKTN):c.166-9C>T
|
rs1361772036
|
|
NM_001079802.2(FKTN):c.411C>T (p.Cys137=)
|
rs537001725
|
|
NM_001079802.2(FKTN):c.766C>A (p.Arg256=)
|
rs377417974
|
|
NM_001079866.2(BCS1L):c.349C>A (p.Arg117=)
|
rs777735526
|
|
NM_001080.3(ALDH5A1):c.102C>G (p.Ala34=)
|
rs779034609
|
|
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del)
|
rs797046038
|
|
NM_001083961.2(WDR62):c.156C>G (p.Ser52=)
|
rs398123559
|
|
NM_001083961.2(WDR62):c.1959-10A>C
|
rs767989054
|
|
NM_001083961.2(WDR62):c.2580C>T (p.Pro860=)
|
rs886043531
|
|
NM_001083961.2(WDR62):c.3162G>A (p.Pro1054=)
|
rs200232641
|
|
NM_001083961.2(WDR62):c.3641C>T (p.Thr1214Ile)
|
rs752898108
|
|
NM_001083962.2(TCF4):c.594G>T (p.Ser198=)
|
rs368553922
|
|
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del)
|
rs750710267
|
|
NM_001101426.4(CRPPA):c.261A>G (p.Val87=)
|
rs886044356
|
|
NM_001110219.3(GJB6):c.111G>A (p.Val37=)
|
rs543659673
|
|
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=)
|
rs782591917
|
|
NM_001110792.2(MECP2):c.1200A>C (p.Pro400=)
|
rs797044732
|
|
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser)
|
rs61753973
|
|
NM_001110792.2(MECP2):c.563C>A (p.Pro188His)
|
rs61749701
|
|
NM_001110792.2(MECP2):c.564C>G (p.Pro188=)
|
rs61754420
|
|
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup)
|
rs398123566
|
|
NM_001110792.2(MECP2):c.972C>T (p.Val324=)
|
rs398124188
|
|
NM_001112704.2(VAX1):c.375G>C (p.Val125=)
|
rs753533789
|
|
NM_001122630.2(CDKN1C):c.522TCCGGC[2] (p.168AP[7])
|
rs878853632
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11])
|
rs759134767
|
|
NM_001126049.2(KLLN):c.-812G>A
|
rs587779981
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])
|
rs764399373
|
|
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=)
|
rs886044439
|
|
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=)
|
rs184723350
|
|
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=)
|
rs555959123
|
|
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup)
|
rs759331923
|
|
NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del)
|
rs759331923
|
|
NM_001127222.2(CACNA1A):c.6653_6658del (p.His2218_His2219del)
|
rs774721955
|
|
NM_001127649.3(PEX26):c.99G>C (p.Pro33=)
|
rs1284941471
|
|
NM_001128178.3(NPHP1):c.1530-10del
|
rs779032904
|
|
NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del)
|
rs777574728
|
|
NM_001128178.3(NPHP1):c.728+9G>A
|
rs1280756117
|
|
NM_001128178.3(NPHP1):c.771+58C>A
|
rs367600757
|
|
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)
|
rs140574574
|
|
NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys)
|
rs769320860
|
|
NM_001130438.3(SPTAN1):c.3580-5_3580-2del
|
rs754528571
|
|
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=)
|
rs72758823
|
|
NM_001130987.2(DYSF):c.1371G>A (p.Ala457=)
|
rs140667960
|
|
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=)
|
rs34387018
|
|
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)
|
rs546679270
|
|
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=)
|
rs115849497
|
|
NM_001130987.2(DYSF):c.2865-7_2865-5del
|
rs761299898
|
|
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=)
|
rs201319864
|
|
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met)
|
rs148858485
|
|
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)
|
rs148858485
|
|
NM_001130987.2(DYSF):c.378G>T (p.Pro126=)
|
rs377056951
|
|
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=)
|
rs142301132
|
|
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala)
|
rs540014314
|
|
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu)
|
rs77110978
|
|
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)
|
rs753102653
|
|
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA
|
rs786200964
|
|
NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del)
|
rs774514148
|
|
NM_001159699.2(FHL1):c.737-9del
|
rs374867802
|
|
NM_001159773.2(CANT1):c.1026C>T (p.His342=)
|
rs755288092
|
|
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del)
|
rs1484259264
|
|
NM_001164508.2(NEB):c.15237A>G (p.Leu5079=)
|
rs1057522592
|
|
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3])
|
rs757726895
|
|
NM_001164508.2(NEB):c.15445A>T (p.Ser5149Cys)
|
rs1057521769
|
|
NM_001164508.2(NEB):c.5971-6dup
|
rs551520922
|
|
NM_001165963.4(SCN1A):c.135C>T (p.Asp45=)
|
rs201985242
|
|
NM_001165963.4(SCN1A):c.2044-5dup
|
rs549232924
|
|
NM_001165963.4(SCN1A):c.4339-5G>A
|
rs1057522587
|
|
NM_001170629.2(CHD8):c.2691G>A (p.Gln897=)
|
rs1369694963
|
|
NM_001170629.2(CHD8):c.6447A>G (p.Gln2149=)
|
rs370106194
|
|
NM_001177316.2(SLC34A3):c.837G>A (p.Thr279=)
|
rs368153798
|
|
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe)
|
rs189342249
|
|
NM_001193315.2(VIPAS39):c.110G>A (p.Arg37Gln)
|
rs537717904
|
|
NM_001195248.2(APTX):c.484-25_484-10del
|
rs774597262
|
|
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del)
|
rs555444131
|
|
NM_001199397.3(NEK1):c.1081-8dup
|
rs398124255
|
|
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)
|
rs72554069
|
|
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His)
|
rs189626540
|
|
NM_001267550.2(TTN):c.100980G>A (p.Glu33660=)
|
rs727503536
|
|
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val)
|
rs773542514
|
|
NM_001267550.2(TTN):c.102885T>C (p.Gly34295=)
|
rs886039175
|
|
NM_001267550.2(TTN):c.103113T>C (p.Asn34371=)
|
rs886042668
|
|
NM_001267550.2(TTN):c.103246T>C (p.Leu34416=)
|
rs1553492053
|
|
NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val)
|
rs761105256
|
|
NM_001267550.2(TTN):c.103958G>A (p.Arg34653His)
|
rs72629786
|
|
NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu)
|
rs774131659
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
NM_001267550.2(TTN):c.107301C>A (p.Ser35767Arg)
|
rs1558965303
|
|
NM_001267550.2(TTN):c.12813C>T (p.His4271=)
|
rs373302409
|
|
NM_001267550.2(TTN):c.1398+4C>T
|
rs368548209
|
|
NM_001267550.2(TTN):c.14212C>A (p.Arg4738=)
|
rs1311308523
|
|
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr)
|
rs201744218
|
|
NM_001267550.2(TTN):c.14788C>G (p.Pro4930Ala)
|
rs201744218
|
|
NM_001267550.2(TTN):c.16964T>C (p.Met5655Thr)
|
rs886044306
|
|
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg)
|
rs191057824
|
|
NM_001267550.2(TTN):c.2218C>A (p.Arg740Ser)
|
rs566299753
|
|
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del)
|
rs727503701
|
|
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met)
|
rs149061352
|
|
NM_001267550.2(TTN):c.24156A>G (p.Thr8052=)
|
rs749823104
|
|
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser)
|
rs200972189
|
|
NM_001267550.2(TTN):c.2589T>C (p.Thr863=)
|
rs794727178
|
|
NM_001267550.2(TTN):c.26762-10_26762-9insTTGTTTTGTA
|
rs1553893826
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[11]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26991A>C (p.Thr8997=)
|
rs61232800
|
|
NM_001267550.2(TTN):c.28754A>G (p.Glu9585Gly)
|
rs200856239
|
|
NM_001267550.2(TTN):c.29144C>T (p.Ala9715Val)
|
rs533172128
|
|
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg)
|
rs148269839
|
|
NM_001267550.2(TTN):c.30683-18_30683-9del
|
rs775388232
|
|
NM_001267550.2(TTN):c.30713A>G (p.Lys10238Arg)
|
rs780073797
|
|
NM_001267550.2(TTN):c.31762+5_31762+7del
|
rs397517538
|
|
NM_001267550.2(TTN):c.32554+5_32554+6del
|
rs771419718
|
|
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.34092A>T (p.Leu11364=)
|
rs765888527
|
|
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del)
|
rs763098227
|
|
NM_001267550.2(TTN):c.34708+9G>T
|
rs397517551
|
|
NM_001267550.2(TTN):c.35199A>G (p.Val11733=)
|
rs1560255134
|
|
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr)
|
rs72650057
|
|
NM_001267550.2(TTN):c.40408+3dup
|
rs727504922
|
|
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del)
|
rs727504199
|
|
NM_001267550.2(TTN):c.40595T>C (p.Val13532Ala)
|
rs756446770
|
|
NM_001267550.2(TTN):c.40788A>G (p.Glu13596=)
|
rs886042511
|
|
NM_001267550.2(TTN):c.41178C>T (p.Ile13726=)
|
rs1559992784
|
|
NM_001267550.2(TTN):c.43502C>G (p.Thr14501Ser)
|
rs115825044
|
|
NM_001267550.2(TTN):c.43653T>C (p.His14551=)
|
rs768244114
|
|
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His)
|
rs373298007
|
|
NM_001267550.2(TTN):c.45748A>T (p.Ser15250Cys)
|
rs776190494
|
|
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)
|
rs397517583
|
|
NM_001267550.2(TTN):c.46848G>T (p.Thr15616=)
|
rs766610061
|
|
NM_001267550.2(TTN):c.5196A>C (p.Pro1732=)
|
rs142262519
|
|
NM_001267550.2(TTN):c.52152C>T (p.Thr17384=)
|
rs1004455055
|
|
NM_001267550.2(TTN):c.52290T>C (p.Tyr17430=)
|
rs990974705
|
|
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val)
|
rs886042743
|
|
NM_001267550.2(TTN):c.53185C>T (p.Leu17729=)
|
rs767559716
|
|
NM_001267550.2(TTN):c.5577G>A (p.Arg1859=)
|
rs551538420
|
|
NM_001267550.2(TTN):c.57360T>A (p.Pro19120=)
|
rs778995340
|
|
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile)
|
rs200778464
|
|
NM_001267550.2(TTN):c.58205A>G (p.Glu19402Gly)
|
rs886042539
|
|
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del)
|
rs771898264
|
|
NM_001267550.2(TTN):c.62534C>T (p.Thr20845Met)
|
rs727505316
|
|
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del)
|
rs727505236
|
|
NM_001267550.2(TTN):c.64683C>G (p.Gly21561=)
|
rs542156552
|
|
NM_001267550.2(TTN):c.65577C>A (p.Val21859=)
|
rs1553629776
|
|
NM_001267550.2(TTN):c.66385C>T (p.Arg22129Cys)
|
rs763729258
|
|
NM_001267550.2(TTN):c.68604C>T (p.Asp22868=)
|
rs750368181
|
|
NM_001267550.2(TTN):c.69876A>C (p.Thr23292=)
|
rs1267766480
|
|
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)
|
rs372799151
|
|
NM_001267550.2(TTN):c.69903C>T (p.Phe23301=)
|
rs372799151
|
|
NM_001267550.2(TTN):c.70026T>C (p.Pro23342=)
|
rs878983731
|
|
NM_001267550.2(TTN):c.70137C>A (p.Thr23379=)
|
rs770349910
|
|
NM_001267550.2(TTN):c.71832A>C (p.Lys23944Asn)
|
rs1449315408
|
|
NM_001267550.2(TTN):c.72174T>C (p.Pro24058=)
|
rs886042700
|
|
NM_001267550.2(TTN):c.72716T>A (p.Met24239Lys)
|
rs750298083
|
|
NM_001267550.2(TTN):c.74059_74060delinsCA (p.Phe24687His)
|
rs1559409373
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
NM_001267550.2(TTN):c.76383TAA[1] (p.Asn25462del)
|
rs749648136
|
|
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln)
|
rs368038362
|
|
NM_001267550.2(TTN):c.79519_79520delinsAA (p.Ala26507Asn)
|
rs886044012
|
|
NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln)
|
rs201091376
|
|
NM_001267550.2(TTN):c.8184C>G (p.Val2728=)
|
rs753356474
|
|
NM_001267550.2(TTN):c.82385C>T (p.Thr27462Met)
|
rs55933739
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr)
|
rs397517731
|
|
NM_001267550.2(TTN):c.85722C>T (p.Pro28574=)
|
rs763685410
|
|
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del)
|
rs727504797
|
|
NM_001267550.2(TTN):c.89457A>G (p.Gly29819=)
|
rs1553542686
|
|
NM_001267550.2(TTN):c.89742A>G (p.Ile29914Met)
|
rs1230340692
|
|
NM_001267550.2(TTN):c.90594T>C (p.His30198=)
|
rs765307374
|
|
NM_001267550.2(TTN):c.90715G>A (p.Ala30239Thr)
|
rs879126335
|
|
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del)
|
rs748912340
|
|
NM_001267550.2(TTN):c.91884A>G (p.Arg30628=)
|
rs144922355
|
|
NM_001267550.2(TTN):c.92871T>C (p.Ala30957=)
|
rs748822553
|
|
NM_001267550.2(TTN):c.93129C>T (p.Asp31043=)
|
rs758336721
|
|
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser)
|
rs190282707
|
|
NM_001267550.2(TTN):c.95598C>T (p.Thr31866=)
|
rs1553520323
|
|
NM_001267550.2(TTN):c.9618T>C (p.Phe3206=)
|
rs878971586
|
|
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)
|
rs200540781
|
|
NM_001267550.2(TTN):c.98721C>T (p.Leu32907=)
|
rs375361462
|
|
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His)
|
rs186405108
|
|
NM_001267550.2(TTN):c.99567C>T (p.Leu33189=)
|
rs745708104
|
|
NM_001272071.2(AP1S2):c.252T>C (p.His84=)
|
rs727503807
|
|
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT
|
rs398123361
|
|
NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup)
|
rs398124609
|
|
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del)
|
rs753906203
|
|
NM_001292063.2(OTOG):c.6667G>A (p.Val2223Met)
|
rs572886375
|
|
NM_001297.5(CNGB1):c.49C>T (p.Arg17Trp)
|
rs200694933
|
|
NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys)
|
rs202124602
|
|
NM_001330078.2(NRXN1):c.1843C>T (p.Leu615=)
|
rs201029409
|
|
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1])
|
rs758276968
|
|
NM_001351132.2(PEX5):c.135G>C (p.Pro45=)
|
rs761885230
|
|
NM_001351132.2(PEX5):c.48G>A (p.Pro16=)
|
rs147958315
|
|
NM_001354604.2(MITF):c.639C>T (p.Asn213=)
|
rs137944487
|
|
NM_001360.3(DHCR7):c.906C>T (p.Phe302=)
|
rs80338858
|
|
NM_001360016.2(G6PD):c.1398C>T (p.Thr466=)
|
rs398123547
|
|
NM_001364905.1(LRBA):c.3789C>T (p.Asn1263=)
|
rs150689413
|
|
NM_001365276.2(TNXB):c.1259T>C (p.Val420Ala)
|
rs200226242
|
|
NM_001365951.3(KIF1B):c.430-9del
|
rs771477893
|
|
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala)
|
rs532620482
|
|
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=)
|
rs184374078
|
|
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile)
|
rs886043704
|
|
NM_001367721.1(CASK):c.1215A>G (p.Ala405=)
|
rs1555989329
|
|
NM_001367721.1(CASK):c.1224A>G (p.Arg408=)
|
rs1555989321
|
|
NM_001367721.1(CASK):c.1419A>G (p.Pro473=)
|
rs764194945
|
|
NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp)
|
rs140854076
|
|
NM_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=)
|
rs41303149
|
|
NM_001371596.2(MFSD8):c.63-4del
|
rs755011754
|
|
NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=)
|
rs141988240
|
|
NM_001374385.1(ATP8B1):c.182-5dup
|
rs34583775
|
|
NM_001374385.1(ATP8B1):c.2209+10T>C
|
rs1555689635
|
|
NM_001374385.1(ATP8B1):c.306C>T (p.Tyr102=)
|
rs1555693515
|
|
NM_001374385.1(ATP8B1):c.3636G>A (p.Ser1212=)
|
rs748084795
|
|
NM_001374385.1(ATP8B1):c.921C>T (p.His307=)
|
rs747429748
|
|
NM_001378120.1(MBD5):c.3603G>T (p.Ser1201=)
|
rs138058889
|
|
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)
|
rs115444326
|
|
NM_001378454.1(ALMS1):c.4843T>G (p.Leu1615Val)
|
rs375736124
|
|
NM_001378454.1(ALMS1):c.6211A>G (p.Ile2071Val)
|
rs1020163869
|
|
NM_001378454.1(ALMS1):c.6960G>A (p.Gln2320=)
|
rs794727925
|
|
NM_001378615.1(CC2D2A):c.2182-9_2182-8delinsAA
|
rs1560177950
|
|
NM_001378615.1(CC2D2A):c.3145C>A (p.Arg1049=)
|
rs386833750
|
|
NM_001384140.1(PCDH15):c.2277T>C (p.Phe759=)
|
rs1565043296
|
|
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)
|
rs45483395
|
|
NM_001384140.1(PCDH15):c.3699C>T (p.Ser1233=)
|
rs774857947
|
|
NM_001384140.1(PCDH15):c.4308GCC[6] (p.Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4320_4328dup (p.Pro1441_Pro1443dup)
|
rs776051221
|
|
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup)
|
rs759237437
|
|
NM_001384474.1(LOXHD1):c.5712C>T (p.Asn1904=)
|
rs746023380
|
|
NM_001384474.1(LOXHD1):c.710A>G (p.Asn237Ser)
|
rs539278802
|
|
NM_001385.3(DPYS):c.1506del (p.Arg503fs)
|
rs79080341
|
|
NM_001453.3(FOXC1):c.1464GGC[4] (p.Ala494_Ala495del)
|
rs747574884
|
|
NM_001457.4(FLNB):c.5967C>T (p.Pro1989=)
|
rs374686904
|
|
NM_001457.4(FLNB):c.6367+7G>C
|
rs201871482
|
|
NM_001458.5(FLNC):c.3489G>C (p.Pro1163=)
|
rs369853278
|
|
NM_001540.5(HSPB1):c.364+6C>G
|
rs753061670
|
|
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)
|
rs145735762
|
|
NM_001701.4(BAAT):c.9G>A (p.Gln3=)
|
rs149369902
|
|
NM_001793.6(CDH3):c.2430C>T (p.Asn810=)
|
rs774229703
|
|
NM_001844.5(COL2A1):c.1077C>T (p.Val359=)
|
rs202002349
|
|
NM_001844.5(COL2A1):c.3222C>A (p.Gly1074=)
|
rs746453469
|
|
NM_001844.5(COL2A1):c.4414G>C (p.Gly1472Arg)
|
rs763352763
|
|
NM_001848.3(COL6A1):c.1959C>T (p.Phe653=)
|
rs112104768
|
|
NM_001848.3(COL6A1):c.2220G>T (p.Pro740=)
|
rs138976133
|
|
NM_001849.4(COL6A2):c.1117-9C>T
|
rs1057523383
|
|
NM_001849.4(COL6A2):c.2422+7G>A
|
rs773282809
|
|
NM_001849.4(COL6A2):c.2422+7G>T
|
rs773282809
|
|
NM_001849.4(COL6A2):c.2748C>A (p.His916Gln)
|
rs372206114
|
|
NM_001851.6(COL9A1):c.1342-11_1342-3del
|
rs774856588
|
|
NM_001851.6(COL9A1):c.2076A>G (p.Glu692=)
|
rs557157592
|
|
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu)
|
rs146700420
|
|
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile)
|
rs141817156
|
|
NM_001854.4(COL11A1):c.1792-39ATG[11]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1792-39ATG[13]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.2976T>C (p.Pro992=)
|
rs368868551
|
|
NM_001918.5(DBT):c.1210-10dup
|
rs398123658
|
|
NM_001927.4(DES):c.1353C>T (p.Ile451=)
|
rs121913002
|
|
NM_001927.4(DES):c.1372-3dup
|
rs876657769
|
|
NM_001927.4(DES):c.1404A>G (p.Glu468=)
|
rs397516691
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
NM_001966.4(EHHADH):c.411G>A (p.Gln137=)
|
rs148984368
|
|
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His)
|
rs142185964
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
NM_002047.4(GARS1):c.1614-4G>C
|
rs376324026
|
|
NM_002098.6(GUCA1B):c.297G>A (p.Lys99=)
|
rs794727264
|
|
NM_002181.4(IHH):c.228_229delinsAA (p.Arg77Ser)
|
rs886043368
|
|
NM_002234.4(KCNA5):c.859_860delinsTT (p.Ala287Leu)
|
rs1565465582
|
|
NM_002242.4(KCNJ13):c.558T>C (p.Asn186=)
|
rs886043769
|
|
NM_002335.4(LRP5):c.-19del
|
rs763941232
|
|
NM_002335.4(LRP5):c.34CTG[7] (p.Leu19_Leu20del)
|
rs72555376
|
|
NM_002335.4(LRP5):c.3552C>A (p.Thr1184=)
|
rs764663599
|
|
NM_002381.5(MATN3):c.132C>T (p.Pro44=)
|
rs886043710
|
|
NM_002435.3(MPI):c.678C>A (p.Ala226=)
|
rs199972529
|
|
NM_002437.5(MPV17):c.279+9_279+11del
|
rs751559319
|
|
NM_002437.5(MPV17):c.450C>T (p.Pro150=)
|
rs1244633595
|
|
NM_002472.3(MYH8):c.3254+1G>T
|
rs372740784
|
|
NM_002474.3(MYH11):c.3651+5T>G
|
rs794727439
|
|
NM_002474.3(MYH11):c.5787-4733CT[3]
|
rs747642850
|
|
NM_002485.5(NBN):c.1846-11_1846-7del
|
rs1060504925
|
|
NM_002617.4(PEX10):c.333C>T (p.Leu111=)
|
rs781710848
|
|
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup)
|
rs761080016
|
|
NM_002693.3(POLG):c.125_139del (p.Arg42_Gln46del)
|
rs780010436
|
|
NM_002693.3(POLG):c.155_166del (p.Gln52_Gln55del)
|
rs761909257
|
|
NM_002693.3(POLG):c.1905G>A (p.Pro635=)
|
rs550592814
|
|
NM_002693.3(POLG):c.1905G>T (p.Pro635=)
|
rs550592814
|
|
NM_002693.3(POLG):c.1950-10C>T
|
rs749522324
|
|
NM_002693.3(POLG):c.237C>G (p.Leu79=)
|
rs774537232
|
|
NM_002693.3(POLG):c.2481-10A>C
|
rs555280530
|
|
NM_002693.3(POLG):c.2994G>T (p.Ser998=)
|
rs567030498
|
|
NM_002693.3(POLG):c.33C>T (p.Gly11=)
|
rs1482684558
|
|
NM_002693.3(POLG):c.3482+6C>T
|
rs55779802
|
|
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
|
rs2307437
|
|
NM_002693.3(POLG):c.975C>A (p.Pro325=)
|
rs551973680
|
|
NM_002857.4(PEX19):c.115C>T (p.Pro39Ser)
|
rs144256391
|
|
NM_002857.4(PEX19):c.162G>A (p.Ser54=)
|
rs540593146
|
|
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile)
|
rs876657965
|
|
NM_002900.3(RBP3):c.1641G>A (p.Thr547=)
|
rs534717081
|
|
NM_003036.4(SKI):c.1890C>T (p.Ala630=)
|
rs773151547
|
|
NM_003193.5(TBCE):c.660+9_660+10del
|
rs569925016
|
|
NM_003242.6(TGFBR2):c.1254+8A>G
|
rs200630803
|
|
NM_003289.4(TPM2):c.81C>T (p.Ala27=)
|
rs564977715
|
|
NM_003322.6(TULP1):c.846G>A (p.Pro282=)
|
rs149980694
|
|
NM_003392.7(WNT5A):c.141-8C>T
|
rs188798140
|
|
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup)
|
rs748325646
|
|
NM_003477.3(PDHX):c.160+9C>T
|
rs886042781
|
|
NM_003482.4(KMT2D):c.11702AGC[6] (p.Gln3905dup)
|
rs944680171
|
|
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup)
|
rs576788910
|
|
NM_003482.4(KMT2D):c.11864_11893del (p.Leu3955_Gln3964del)
|
rs886042299
|
|
NM_003482.4(KMT2D):c.13437G>T (p.Gly4479=)
|
rs727503981
|
|
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln)
|
rs200088180
|
|
NM_003482.4(KMT2D):c.2232_2258del (p.746RPEEPHLSP[1])
|
rs398123736
|
|
NM_003482.4(KMT2D):c.2264G>A (p.Arg755Gln)
|
rs776110112
|
|
NM_003482.4(KMT2D):c.2551C>T (p.Leu851=)
|
rs186151848
|
|
NM_003482.4(KMT2D):c.2860T>C (p.Leu954=)
|
rs398123740
|
|
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr)
|
rs143711798
|
|
NM_003482.4(KMT2D):c.6456C>T (p.Gly2152=)
|
rs727503985
|
|
NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro)
|
rs373234419
|
|
NM_003494.4(DYSF):c.4C>T (p.Leu2=)
|
rs772536111
|
|
NM_003659.4(AGPS):c.638-7T>C
|
rs886044553
|
|
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys)
|
rs146906267
|
|
NM_003722.5(TP63):c.435G>C (p.Ala145=)
|
rs546908184
|
|
NM_003742.4(ABCB11):c.1435-13_1435-8del
|
rs748716950
|
|
NM_003742.4(ABCB11):c.1608T>C (p.Asn536=)
|
rs1227759001
|
|
NM_003742.4(ABCB11):c.1857G>T (p.Thr619=)
|
rs760948323
|
|
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=)
|
rs200087122
|
|
NM_003742.4(ABCB11):c.2700G>A (p.Leu900=)
|
rs371263629
|
|
NM_003742.4(ABCB11):c.585G>C (p.Val195=)
|
rs11568365
|
|
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys)
|
rs2287617
|
|
NM_003835.4(RGS9):c.313_314delinsGG (p.Thr105Gly)
|
rs797044755
|
|
NM_003846.3(PEX11B):c.238G>A (p.Val80Ile)
|
rs587764801
|
|
NM_003919.3(SGCE):c.436T>A (p.Leu146Met)
|
rs752074255
|
|
NM_004006.3(DMD):c.-29dup
|
rs398123823
|
|
NM_004006.3(DMD):c.1311T>G (p.Ala437=)
|
rs398123855
|
|
NM_004006.3(DMD):c.1482+7G>T
|
rs766338928
|
|
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser)
|
rs145739725
|
|
NM_004006.3(DMD):c.3080G>C (p.Gly1027Ala)
|
rs370171367
|
|
NM_004006.3(DMD):c.31+134AT[6]
|
rs764891575
|
|
NM_004006.3(DMD):c.3649C>G (p.Leu1217Val)
|
rs886042839
|
|
NM_004006.3(DMD):c.3696A>C (p.Ala1232=)
|
rs369971712
|
|
NM_004006.3(DMD):c.445C>A (p.Arg149Ser)
|
rs774139970
|
|
NM_004006.3(DMD):c.468A>C (p.Val156=)
|
rs886044031
|
|
NM_004006.3(DMD):c.5326-11dup
|
rs398123988
|
|
NM_004006.3(DMD):c.5358T>C (p.Phe1786=)
|
rs886042125
|
|
NM_004006.3(DMD):c.5481G>A (p.Leu1827=)
|
rs794727612
|
|
NM_004006.3(DMD):c.5933G>A (p.Arg1978His)
|
rs148135406
|
|
NM_004006.3(DMD):c.8172C>T (p.Leu2724=)
|
rs886044500
|
|
NM_004006.3(DMD):c.8322G>T (p.Leu2774=)
|
rs72466575
|
|
NM_004006.3(DMD):c.9150G>A (p.Gln3050=)
|
rs1352900858
|
|
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=)
|
rs35353912
|
|
NM_004239.4(TRIP11):c.4892+10del
|
rs794727098
|
|
NM_004260.4(RECQL4):c.213+6del
|
rs535285068
|
|
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=)
|
rs56341125
|
|
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4])
|
rs397507458
|
|
NM_004333.6(BRAF):c.918C>G (p.Ser306=)
|
rs794727865
|
|
NM_004369.4(COL6A3):c.3852C>T (p.Phe1284=)
|
rs148561729
|
|
NM_004369.4(COL6A3):c.3982C>T (p.Leu1328=)
|
rs727503885
|
|
NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=)
|
rs114498197
|
|
NM_004369.4(COL6A3):c.4510C>A (p.Arg1504=)
|
rs144223596
|
|
NM_004369.4(COL6A3):c.5148C>T (p.His1716=)
|
rs114845780
|
|
NM_004369.4(COL6A3):c.576G>T (p.Pro192=)
|
rs141560881
|
|
NM_004369.4(COL6A3):c.7645C>A (p.Arg2549=)
|
rs151079701
|
|
NM_004380.3(CREBBP):c.1331-12_1331-9del
|
rs765955245
|
|
NM_004380.3(CREBBP):c.6666_6677del (p.2220_2223GMAG[1])
|
rs778220523
|
|
NM_004385.5(VCAN):c.1458G>T (p.Ser486=)
|
rs150735474
|
|
NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys)
|
rs160278
|
|
NM_004565.3(PEX14):c.299-8G>A
|
rs112851814
|
|
NM_004565.3(PEX14):c.48T>C (p.Thr16=)
|
rs779545665
|
|
NM_004568.6(SERPINB6):c.441G>A (p.Ala147=)
|
rs201913568
|
|
NM_004646.4(NPHS1):c.3456G>T (p.Thr1152=)
|
rs138092189
|
|
NM_004715.5(CTDP1):c.2307C>T (p.Pro769=)
|
rs1403055370
|
|
NM_004817.4(TJP2):c.1520+6T>C
|
rs886044597
|
|
NM_004817.4(TJP2):c.3408-6del
|
rs778863371
|
|
NM_004817.4(TJP2):c.395C>G (p.Pro132Arg)
|
rs141496493
|
|
NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3])
|
rs760152519
|
|
NM_004820.5(CYP7B1):c.963A>G (p.Glu321=)
|
rs1045912447
|
|
NM_004982.4(KCNJ8):c.471G>C (p.Thr157=)
|
rs143319002
|
|
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del)
|
rs727504743
|
|
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)
|
rs762015967
|
|
NM_005045.4(RELN):c.9837C>G (p.Thr3279=)
|
rs202224350
|
|
NM_005097.4(LGI1):c.297A>G (p.Thr99=)
|
rs777027658
|
|
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup)
|
rs766775649
|
|
NM_005188.4(CBL):c.2190G>A (p.Thr730=)
|
rs143840974
|
|
NM_005199.5(CHRNG):c.806-7T>C
|
rs773463683
|
|
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val)
|
rs189809247
|
|
NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup)
|
rs398124201
|
|
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup)
|
rs786200975
|
|
NM_005379.4(MYO1A):c.3128A>G (p.Gln1043Arg)
|
rs370617353
|
|
NM_005422.4(TECTA):c.336T>C (p.Tyr112=)
|
rs886043412
|
|
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu)
|
rs148619105
|
|
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)
|
rs121908627
|
|
NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe)
|
rs775803239
|
|
NM_005477.3(HCN4):c.321C>T (p.Gly107=)
|
rs1555479019
|
|
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)
|
rs113652076
|
|
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=)
|
rs150129885
|
|
NM_005633.3(SOS1):c.2511-9dup
|
rs727503436
|
|
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)
|
rs398124211
|
|
NM_005708.5(GPC6):c.1152+9T>A
|
rs794727797
|
|
NM_005802.5(TOPORS):c.1953C>T (p.Ser651=)
|
rs727504178
|
|
NM_005802.5(TOPORS):c.2018G>T (p.Arg673Leu)
|
rs147497536
|
|
NM_005881.4(BCKDK):c.*9C>A
|
rs199965337
|
|
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu)
|
rs886043349
|
|
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr)
|
rs111773340
|
|
NM_006005.3(WFS1):c.2370G>C (p.Ser790=)
|
rs150936382
|
|
NM_006005.3(WFS1):c.2385G>A (p.Glu795=)
|
rs373310972
|
|
NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup)
|
rs749970078
|
|
NM_006019.4(TCIRG1):c.1623G>A (p.Leu541=)
|
rs534950651
|
|
NM_006019.4(TCIRG1):c.1755G>T (p.Val585=)
|
rs1554999033
|
|
NM_006019.4(TCIRG1):c.1836C>T (p.Asn612=)
|
rs886042823
|
|
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe)
|
rs572444748
|
|
NM_006031.6(PCNT):c.24G>C (p.Arg8=)
|
rs375279759
|
|
NM_006031.6(PCNT):c.481_519dup (p.Val161_Thr173dup)
|
rs886042352
|
|
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=)
|
rs151138182
|
|
NM_006031.6(PCNT):c.7464C>G (p.Leu2488=)
|
rs572321857
|
|
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=)
|
rs151325202
|
|
NM_006059.4(LAMC3):c.1939G>C (p.Gly647Arg)
|
rs144242690
|
|
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln)
|
rs146221263
|
|
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys)
|
rs140955110
|
|
NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser)
|
rs147092908
|
|
NM_006208.3(ENPP1):c.27C>G (p.Gly9=)
|
rs794726927
|
|
NM_006261.5(PROP1):c.636T>C (p.Pro212=)
|
rs759632048
|
|
NM_006343.3(MERTK):c.1137T>G (p.Thr379=)
|
rs1558793454
|
|
NM_006343.3(MERTK):c.1961-4dup
|
rs772574056
|
|
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser)
|
rs141361084
|
|
NM_006420.3(ARFGEF2):c.3624C>G (p.Ala1208=)
|
rs372376922
|
|
NM_006445.4(PRPF8):c.5001C>T (p.Arg1667=)
|
rs794727562
|
|
NM_006445.4(PRPF8):c.5943G>C (p.Val1981=)
|
rs758937794
|
|
NM_006486.3(FBLN1):c.279G>T (p.Thr93=)
|
rs765918593
|
|
NM_006516.4(SLC2A1):c.679+4C>T
|
rs139492241
|
|
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6])
|
rs757881983
|
|
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=)
|
rs143407309
|
|
NM_006662.3(SRCAP):c.5838C>A (p.Pro1946=)
|
rs1276291921
|
|
NM_006790.3(MYOT):c.1275A>G (p.Ala425=)
|
rs140678912
|
|
NM_006790.3(MYOT):c.1401T>C (p.Asn467=)
|
rs145427063
|
|
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[1] (p.832TGERSN[1])
|
rs554634510
|
|
NM_006859.4(LIAS):c.-1A>G
|
rs139360916
|
|
NM_006899.5(IDH3B):c.522G>T (p.Leu174=)
|
rs778097475
|
|
NM_006899.5(IDH3B):c.665+8G>T
|
rs1555781271
|
|
NM_006922.4(SCN3A):c.5172C>T (p.Pro1724=)
|
rs370428859
|
|
NM_007126.5(VCP):c.1896C>A (p.Ala632=)
|
rs141275388
|
|
NM_007129.5(ZIC2):c.1392_1406del (p.Ala466_Ala470del)
|
rs761822481
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007294.4(BRCA1):c.439T>C (p.Leu147=)
|
rs794727800
|
|
NM_007294.4(BRCA1):c.548-9del
|
rs273902774
|
|
NM_007294.4(BRCA1):c.81-13C>G
|
rs56328013
|
|
NM_012210.4(TRIM32):c.1710G>A (p.Ser570=)
|
rs555217187
|
|
NM_012210.4(TRIM32):c.319C>T (p.Leu107=)
|
rs886042410
|
|
NM_012210.4(TRIM32):c.633T>C (p.Ala211=)
|
rs753960738
|
|
NM_012254.3(SLC27A5):c.1407C>T (p.Phe469=)
|
rs536826731
|
|
NM_012254.3(SLC27A5):c.309G>A (p.Lys103=)
|
rs956885811
|
|
NM_012254.3(SLC27A5):c.813G>T (p.Ala271=)
|
rs559467414
|
|
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)
|
rs139785866
|
|
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)
|
rs143509747
|
|
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=)
|
rs139680786
|
|
NM_013382.7(POMT2):c.1726-9A>T
|
rs747493997
|
|
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)
|
rs151103906
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=)
|
rs144934076
|
|
NM_014140.4(SMARCAL1):c.340C>G (p.Arg114Gly)
|
rs202031614
|
|
NM_014141.6(CNTNAP2):c.2136C>T (p.Asn712=)
|
rs187552025
|
|
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile)
|
rs146225600
|
|
NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser)
|
rs727503878
|
|
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=)
|
rs201219937
|
|
NM_014236.4(GNPAT):c.1752C>T (p.Cys584=)
|
rs775776447
|
|
NM_014244.5(ADAMTS2):c.1869C>T (p.Arg623=)
|
rs376058580
|
|
NM_014251.3(SLC25A13):c.848+9G>T
|
rs201395793
|
|
NM_014319.5(LEMD3):c.636G>A (p.Gly212=)
|
rs771253349
|
|
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr)
|
rs199734111
|
|
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)
|
rs150427474
|
|
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr)
|
rs527513599
|
|
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)
|
rs537408260
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
NM_014425.5(INVS):c.3182dup (p.Asn1061fs)
|
rs760013326
|
|
NM_014467.3(SRPX2):c.605G>A (p.Arg202Gln)
|
rs200784551
|
|
NM_014491.4(FOXP2):c.1434A>T (p.Arg478=)
|
rs201343293
|
|
NM_014639.4(SKIC3):c.2292-7C>T
|
rs1554050960
|
|
NM_014639.4(SKIC3):c.4497-14dup
|
rs755628334
|
|
NM_014780.5(CUL7):c.1782G>A (p.Ala594=)
|
rs369092411
|
|
NM_014780.5(CUL7):c.2229C>G (p.Ala743=)
|
rs188565648
|
|
NM_014780.5(CUL7):c.2754G>A (p.Thr918=)
|
rs138777262
|
|
NM_014795.4(ZEB2):c.1542G>A (p.Pro514=)
|
rs141674976
|
|
NM_014795.4(ZEB2):c.1542G>T (p.Pro514=)
|
rs141674976
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
NM_014874.4(MFN2):c.1920C>G (p.Leu640=)
|
rs141468012
|
|
NM_014989.7(RIMS1):c.2107T>A (p.Ser703Thr)
|
rs772471723
|
|
NM_015102.5(NPHP4):c.1257C>T (p.His419=)
|
rs768393994
|
|
NM_015102.5(NPHP4):c.2250C>T (p.Asp750=)
|
rs201090359
|
|
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln)
|
rs560944258
|
|
NM_015102.5(NPHP4):c.594G>C (p.Ala198=)
|
rs141538649
|
|
NM_015192.4(PLCB1):c.3135C>T (p.Val1045=)
|
rs577076166
|
|
NM_015295.3(SMCHD1):c.162G>T (p.Ala54=)
|
rs766395572
|
|
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=)
|
rs76290319
|
|
NM_015295.3(SMCHD1):c.4282-5dup
|
rs752013568
|
|
NM_015295.3(SMCHD1):c.4695C>T (p.Phe1565=)
|
rs757300247
|
|
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser)
|
rs150586098
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
NM_015702.3(MMADHC):c.609+8_609+100del
|
rs1553453945
|
|
NM_015922.3(NSDHL):c.842G>A (p.Arg281His)
|
rs782143078
|
|
NM_016239.4(MYO15A):c.1323G>A (p.Ala441=)
|
rs376905344
|
|
NM_016239.4(MYO15A):c.534C>T (p.Ala178=)
|
rs749146534
|
|
NM_016247.4(IMPG2):c.534-13dup
|
rs567795716
|
|
NM_016356.5(DCDC2):c.543C>T (p.Ser181=)
|
rs141060456
|
|
NM_016356.5(DCDC2):c.696G>A (p.Arg232=)
|
rs758802517
|
|
NM_016366.3(CABP2):c.201C>A (p.Ala67=)
|
rs138981491
|
|
NM_016729.3(FOLR1):c.510A>G (p.Ala170=)
|
rs564331848
|
|
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His)
|
rs143918373
|
|
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=)
|
rs372169216
|
|
NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly)
|
rs727504688
|
|
NM_017668.3(NDE1):c.701G>A (p.Arg234His)
|
rs138255766
|
|
NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys)
|
rs373301291
|
|
NM_017837.4(PIGV):c.348_349delinsAG (p.Ile117Val)
|
rs886044116
|
|
NM_017837.4(PIGV):c.678G>A (p.Thr226=)
|
rs769023704
|
|
NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del)
|
rs542254849
|
|
NM_018006.5(TRMU):c.102G>A (p.Val34=)
|
rs1426898716
|
|
NM_018006.5(TRMU):c.248+9_248+18del
|
rs763718617
|
|
NM_018006.5(TRMU):c.99G>A (p.Gly33=)
|
rs1569060096
|
|
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del)
|
rs587783241
|
|
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His)
|
rs141297873
|
|
NM_018136.5(ASPM):c.8309T>G (p.Val2770Gly)
|
rs886043529
|
|
NM_018668.5(VPS33B):c.456G>T (p.Leu152=)
|
rs997425993
|
|
NM_018941.4(CLN8):c.648C>T (p.Phe216=)
|
rs564074916
|
|
NM_019066.5(MAGEL2):c.1344ACCCGTGATCCGCCAGGCCCC[1] (p.442PVIRQAP[2])
|
rs794726941
|
|
NM_019066.5(MAGEL2):c.1404CCCACCTGTGATCCGCCAGGC[1] (p.464VIRQAPP[3])
|
rs1386125417
|
|
NM_019066.5(MAGEL2):c.479CCCATCCTCCTCCTCCGGGGACCCCGATGG[1] (p.160AHPPPPGTPM[1])
|
rs751352401
|
|
NM_019066.5(MAGEL2):c.939CCCACCTGCACAGCCGATGGC[1] (p.314PPAQPMA[1])
|
rs528108868
|
|
NM_019098.5(CNGB3):c.843A>G (p.Gly281=)
|
rs1200686449
|
|
NM_020166.5(MCCC1):c.156C>A (p.Val52=)
|
rs398124353
|
|
NM_020184.4(CNNM4):c.627G>A (p.Leu209=)
|
rs1553474576
|
|
NM_020297.4(ABCC9):c.1165-6dup
|
rs35857705
|
|
NM_020320.5(RARS2):c.888G>A (p.Thr296=)
|
rs145189950
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=)
|
rs867638588
|
|
NM_020631.6(PLEKHG5):c.997C>A (p.Arg333=)
|
rs148232621
|
|
NM_020822.3(KCNT1):c.1620-15_1620-5dup
|
rs761464076
|
|
NM_020975.6(RET):c.2284+54C>A
|
rs566375223
|
|
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu)
|
rs768132465
|
|
NM_021072.4(HCN1):c.336C>A (p.Arg112=)
|
rs794726951
|
|
NM_021728.4(OTX2):c.444G>C (p.Pro148=)
|
rs147896150
|
|
NM_021939.4(FKBP10):c.1029C>T (p.Ile343=)
|
rs782632205
|
|
NM_021939.4(FKBP10):c.21C>T (p.Pro7=)
|
rs781985978
|
|
NM_021939.4(FKBP10):c.246-5C>G
|
rs140027863
|
|
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln)
|
rs562525508
|
|
NM_022124.6(CDH23):c.2532C>T (p.Asn844=)
|
rs756454038
|
|
NM_022124.6(CDH23):c.3477G>C (p.Leu1159=)
|
rs1564759522
|
|
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=)
|
rs111033487
|
|
NM_022124.6(CDH23):c.6108C>T (p.Ile2036=)
|
rs749235545
|
|
NM_022436.3(ABCG5):c.1311C>T (p.Asn437=)
|
rs575266356
|
|
NM_022436.3(ABCG5):c.139G>A (p.Val47Ile)
|
rs72542426
|
|
NM_022436.3(ABCG5):c.550C>T (p.Leu184=)
|
rs762951266
|
|
NM_022437.3(ABCG8):c.1024G>T (p.Ala342Ser)
|
rs145373839
|
|
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val)
|
rs147194762
|
|
NM_022437.3(ABCG8):c.1293C>A (p.Ile431=)
|
rs202176869
|
|
NM_022437.3(ABCG8):c.1756+6G>A
|
rs375563605
|
|
NM_022437.3(ABCG8):c.1756+6G>T
|
rs375563605
|
|
NM_022437.3(ABCG8):c.1757-4C>G
|
rs765522418
|
|
NM_022437.3(ABCG8):c.1884+9G>A
|
rs759152941
|
|
NM_022437.3(ABCG8):c.1885-7T>C
|
rs1485558944
|
|
NM_022437.3(ABCG8):c.576C>A (p.Ile192=)
|
rs148058949
|
|
NM_022437.3(ABCG8):c.768C>T (p.Ser256=)
|
rs1558811634
|
|
NM_022455.5(NSD1):c.1260A>G (p.Lys420=)
|
rs1397377820
|
|
NM_022455.5(NSD1):c.2309G>T (p.Gly770Val)
|
rs375566261
|
|
NM_022455.5(NSD1):c.3383C>T (p.Ser1128Phe)
|
rs559441081
|
|
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr)
|
rs201483724
|
|
NM_022455.5(NSD1):c.750AGC[1] (p.Ala252del)
|
rs398124385
|
|
NM_022455.5(NSD1):c.7632C>T (p.Ala2544=)
|
rs886042468
|
|
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del)
|
rs727503069
|
|
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=)
|
rs4021006
|
|
NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=)
|
rs149036937
|
|
NM_024408.4(NOTCH2):c.5781+10A>C
|
rs369586235
|
|
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)
|
rs144873879
|
|
NM_024596.5(MCPH1):c.216G>A (p.Ser72=)
|
rs775942126
|
|
NM_024596.5(MCPH1):c.433C>T (p.Leu145=)
|
rs139607465
|
|
NM_024608.4(NEIL1):c.314dup (p.Pro106fs)
|
rs556576971
|
|
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr)
|
rs777999570
|
|
NM_024757.5(EHMT1):c.390G>A (p.Pro130=)
|
rs144323841
|
|
NM_025074.7(FRAS1):c.4365G>C (p.Ala1455=)
|
rs375417798
|
|
NM_025074.7(FRAS1):c.4857A>G (p.Val1619=)
|
rs886044144
|
|
NM_025114.4(CEP290):c.2067G>A (p.Lys689=)
|
rs1425613490
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_025114.4(CEP290):c.251-19dup
|
rs752284551
|
|
NM_025243.4(SLC19A3):c.*8G>A
|
rs188532608
|
|
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=)
|
rs138363524
|
|
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro)
|
rs146117200
|
|
NM_030665.4(RAI1):c.3270C>G (p.Ala1090=)
|
rs398124416
|
|
NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup)
|
rs371983878
|
|
NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del)
|
rs371983878
|
|
NM_030665.4(RAI1):c.849G>A (p.Gln283=)
|
rs886042730
|
|
NM_030753.5(WNT3):c.309C>A (p.Pro103=)
|
rs749737942
|
|
NM_032119.4(ADGRV1):c.11157C>A (p.Ile3719=)
|
rs762094907
|
|
NM_032119.4(ADGRV1):c.13130C>A (p.Pro4377His)
|
rs542081391
|
|
NM_032119.4(ADGRV1):c.14432C>T (p.Pro4811Leu)
|
rs201747452
|
|
NM_032119.4(ADGRV1):c.14928C>T (p.His4976=)
|
rs1251473317
|
|
NM_032119.4(ADGRV1):c.15837C>A (p.Ile5279=)
|
rs765630970
|
|
NM_032119.4(ADGRV1):c.16248C>G (p.Val5416=)
|
rs3763073
|
|
NM_032119.4(ADGRV1):c.17215A>G (p.Ile5739Val)
|
rs747089219
|
|
NM_032119.4(ADGRV1):c.18433-9_18433-5del
|
rs35858094
|
|
NM_032119.4(ADGRV1):c.2106G>A (p.Val702=)
|
rs749630454
|
|
NM_032119.4(ADGRV1):c.5784C>T (p.Ser1928=)
|
rs199605700
|
|
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser)
|
rs41311335
|
|
NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr)
|
rs41302834
|
|
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His)
|
rs41303352
|
|
NM_032119.4(ADGRV1):c.600A>G (p.Pro200=)
|
rs776978539
|
|
NM_032119.4(ADGRV1):c.6290G>A (p.Arg2097His)
|
rs572910896
|
|
NM_032119.4(ADGRV1):c.7095G>A (p.Leu2365=)
|
rs794727564
|
|
NM_032856.5(WDR73):c.1132dup (p.Arg378fs)
|
rs747109506
|
|
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)
|
rs397517462
|
|
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup)
|
rs397517466
|
|
NM_033056.4(PCDH15):c.5630_5633del (p.Arg1877fs)
|
rs794727570
|
|
NM_033337.3(CAV3):c.312G>A (p.Val104=)
|
rs794727305
|
|
NM_033337.3(CAV3):c.399C>T (p.Phe133=)
|
rs769859957
|
|
NM_033337.3(CAV3):c.402G>C (p.Ala134=)
|
rs559206877
|
|
NM_033641.4(COL4A6):c.2685G>T (p.Lys895Asn)
|
rs150454971
|
|
NM_052867.4(NALCN):c.4977C>G (p.Asp1659Glu)
|
rs78817184
|
|
NM_058246.4(DNAJB6):c.429G>A (p.Ala143=)
|
rs150709673
|
|
NM_080680.3(COL11A2):c.1180-4A>G
|
rs1554221961
|
|
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln)
|
rs199866657
|
|
NM_080680.3(COL11A2):c.4767C>T (p.Asp1589=)
|
rs886044178
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
NM_130837.3(OPA1):c.2441-4C>G
|
rs763386320
|
|
NM_133261.3(GIPC3):c.855C>G (p.Ser285=)
|
rs766192644
|
|
NM_133378.4(TTN):c.37385_37387delAAG
|
rs759525338
|
|
NM_133379.5(TTN):c.12699T>C (p.Ala4233=)
|
rs185931752
|
|
NM_133379.5(TTN):c.15313C>A (p.Arg5105=)
|
rs376396183
|
|
NM_133433.4(NIPBL):c.5863-31TA[11]
|
rs10554564
|
|
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr)
|
rs587784006
|
|
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)
|
rs372394177
|
|
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile)
|
rs553752644
|
|
NM_138694.4(PKHD1):c.10893T>C (p.Tyr3631=)
|
rs1290859259
|
|
NM_138694.4(PKHD1):c.12147G>A (p.Glu4049=)
|
rs1561967407
|
|
NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=)
|
rs577832997
|
|
NM_138694.4(PKHD1):c.5133C>T (p.Ala1711=)
|
rs144841026
|
|
NM_138694.4(PKHD1):c.528-17dup
|
rs753686281
|
|
NM_138694.4(PKHD1):c.8174-18dup
|
rs566540835
|
|
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)
|
rs745523374
|
|
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11])
|
rs750165040
|
|
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup)
|
rs398124508
|
|
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[6] (p.Ala112_Ala115del)
|
rs387906492
|
|
NM_139125.4(MASP1):c.1773C>T (p.Ala591=)
|
rs753546269
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
NM_147127.5(EVC2):c.1711-11_1711-10dup
|
rs35103377
|
|
NM_147196.3(TMIE):c.367AAG[6] (p.Lys129_Lys131del)
|
rs10578999
|
|
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup)
|
rs386834068
|
|
NM_153240.5(NPHP3):c.1525-5del
|
rs762115717
|
|
NM_153240.5(NPHP3):c.171C>A (p.Pro57=)
|
rs778581370
|
|
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr)
|
rs139730838
|
|
NM_153240.5(NPHP3):c.3697-14dup
|
rs564013823
|
|
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln)
|
rs35401386
|
|
NM_170699.3(GPBAR1):c.975C>A (p.Val325=)
|
rs202200326
|
|
NM_170699.3(GPBAR1):c.975C>T (p.Val325=)
|
rs202200326
|
|
NM_170707.4(LMNA):c.1122C>T (p.His374=)
|
rs143715750
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_170707.4(LMNA):c.1599C>T (p.Ser533=)
|
rs886043346
|
|
NM_170707.4(LMNA):c.1827A>T (p.Gly609=)
|
rs1558135172
|
|
NM_170707.4(LMNA):c.483G>A (p.Glu161=)
|
rs1553264647
|
|
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=)
|
rs1801545
|
|
NM_172364.5(CACNA2D4):c.2046C>T (p.Ala682=)
|
rs116214586
|
|
NM_173660.5(DOK7):c.1305C>A (p.Gly435=)
|
rs201894731
|
|
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg)
|
rs376805794
|
|
NM_173660.5(DOK7):c.918C>T (p.Ala306=)
|
rs141947707
|
|
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup)
|
rs35574083
|
|
NM_175737.4(KLB):c.2329_2331del (p.Phe777del)
|
rs549659598
|
|
NM_175875.5(SIX5):c.1872C>T (p.Pro624=)
|
rs373614429
|
|
NM_175875.5(SIX5):c.1943C>T (p.Pro648Leu)
|
rs140816771
|
|
NM_182914.3(SYNE2):c.12109-10_12109-7del
|
rs755277543
|
|
NM_182961.3(SYNE1):c.23146-7dup
|
rs770820426
|
|
NM_182961.4(SYNE1):c.10503A>G (p.Leu3501=)
|
rs1563330296
|
|
NM_182961.4(SYNE1):c.1062C>T (p.Phe354=)
|
rs1057523855
|
|
NM_182961.4(SYNE1):c.10869C>T (p.Pro3623=)
|
rs1554523565
|
|
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=)
|
rs149536991
|
|
NM_182961.4(SYNE1):c.1290C>T (p.Thr430=)
|
rs755709525
|
|
NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=)
|
rs146180064
|
|
NM_182961.4(SYNE1):c.14955+4G>C
|
rs535755402
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
NM_182961.4(SYNE1):c.21639G>A (p.Leu7213=)
|
rs886043685
|
|
NM_182961.4(SYNE1):c.23791-6del
|
rs757124573
|
|
NM_182961.4(SYNE1):c.23979-7G>C
|
rs376918337
|
|
NM_182961.4(SYNE1):c.24723C>T (p.His8241=)
|
rs141586001
|
|
NM_182961.4(SYNE1):c.393A>C (p.Leu131=)
|
rs139291592
|
|
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)
|
rs146789107
|
|
NM_182961.4(SYNE1):c.5877A>G (p.Val1959=)
|
rs1057522688
|
|
NM_182961.4(SYNE1):c.7620G>A (p.Thr2540=)
|
rs142663488
|
|
NM_182961.4(SYNE1):c.7713-5T>C
|
rs893217390
|
|
NM_182961.4(SYNE1):c.779-4dup
|
rs567435072
|
|
NM_182961.4(SYNE1):c.8310C>T (p.Phe2770=)
|
rs749172868
|
|
NM_182961.4(SYNE1):c.9375G>C (p.Leu3125=)
|
rs376622495
|
|
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=)
|
rs184006845
|
|
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=)
|
rs376293687
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_198506.5(LRIT3):c.1752_1754del (p.Leu585del)
|
rs145776307
|
|
NM_198525.3(KIF7):c.2236C>T (p.Arg746Trp)
|
rs141867330
|
|
NM_198525.3(KIF7):c.2549G>T (p.Arg850Leu)
|
rs141514601
|
|
NM_198525.3(KIF7):c.978C>T (p.Val326=)
|
rs555659148
|
|
NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del)
|
rs727503941
|
|
NM_201384.3(PLEC):c.1002C>T (p.Ala334=)
|
rs370574829
|
|
NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met)
|
rs373863249
|
|
NM_201384.3(PLEC):c.11724G>T (p.Ala3908=)
|
rs374595008
|
|
NM_201384.3(PLEC):c.1191C>A (p.Ile397=)
|
rs781888321
|
|
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=)
|
rs185022156
|
|
NM_201384.3(PLEC):c.1245C>G (p.Ala415=)
|
rs782527499
|
|
NM_201384.3(PLEC):c.1248C>T (p.Asp416=)
|
rs572481168
|
|
NM_201384.3(PLEC):c.1263+7_1263+10delinsCAGTCGGTGAGGCAGCAGTCG
|
rs1064794978
|
|
NM_201384.3(PLEC):c.13287C>A (p.Gly4429=)
|
rs782581005
|
|
NM_201384.3(PLEC):c.13347G>A (p.Ala4449=)
|
rs368660987
|
|
NM_201384.3(PLEC):c.13479G>A (p.Ser4493=)
|
rs781929758
|
|
NM_201384.3(PLEC):c.1418+10G>C
|
rs782571969
|
|
NM_201384.3(PLEC):c.2962G>C (p.Glu988Gln)
|
rs367627441
|
|
NM_201384.3(PLEC):c.3375C>G (p.Leu1125=)
|
rs782733038
|
|
NM_201384.3(PLEC):c.5444G>A (p.Arg1815Gln)
|
rs782213742
|
|
NM_201384.3(PLEC):c.5968G>A (p.Val1990Met)
|
rs201588551
|
|
NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met)
|
rs886044784
|
|
NM_201384.3(PLEC):c.6531G>A (p.Thr2177=)
|
rs782621816
|
|
NM_201384.3(PLEC):c.6573G>A (p.Leu2191=)
|
rs1564019780
|
|
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro)
|
rs199504105
|
|
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=)
|
rs376112916
|
|
NM_201384.3(PLEC):c.7983C>T (p.Ala2661=)
|
rs376058402
|
|
NM_201384.3(PLEC):c.804G>A (p.Val268=)
|
rs1554721745
|
|
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn)
|
rs200814155
|
|
NM_201384.3(PLEC):c.8532G>C (p.Ala2844=)
|
rs782732824
|
|
NM_201384.3(PLEC):c.9081G>A (p.Ala3027=)
|
rs199758196
|
|
NM_201384.3(PLEC):c.9577G>T (p.Gly3193Cys)
|
rs201402970
|
|
NM_201525.4(ADGRG1):c.1537C>T (p.Leu513=)
|
rs762771228
|
|
NM_201525.4(ADGRG1):c.2040C>G (p.Gly680=)
|
rs794727146
|
|
NM_203486.3(DLL3):c.982G>T (p.Val328Phe)
|
rs749513254
|
|
NM_206933.4(USH2A):c.10388-17_10388-7del
|
rs1442627890
|
|
NM_206933.4(USH2A):c.13198G>T (p.Ala4400Ser)
|
rs541022183
|
|
NM_206933.4(USH2A):c.15306C>G (p.Ala5102=)
|
rs149506333
|
|
NM_206933.4(USH2A):c.1891G>A (p.Asp631Asn)
|
rs552400144
|
|
NM_206933.4(USH2A):c.2835C>T (p.Ala945=)
|
rs1311224729
|
|
NM_206933.4(USH2A):c.4383A>G (p.Gln1461=)
|
rs978359064
|
|
NM_206933.4(USH2A):c.6094C>T (p.Leu2032=)
|
rs1385829693
|
|
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu)
|
rs138959688
|
|
NM_206933.4(USH2A):c.7527G>T (p.Arg2509=)
|
rs575939496
|
|
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His)
|
rs189748047
|
|
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=)
|
rs397518040
|
|
NM_206933.4(USH2A):c.8778G>A (p.Glu2926=)
|
rs374146074
|
|
NM_206933.4(USH2A):c.9958+8G>T
|
rs370383574
|
|
NM_207361.6(FREM2):c.7329T>A (p.Pro2443=)
|
rs1303270704
|
|
NM_213599.3(ANO5):c.1222C>T (p.Leu408=)
|
rs997655691
|
|
NM_213599.3(ANO5):c.2688C>G (p.Ala896=)
|
rs377549896
|
|
NM_213599.3(ANO5):c.295-8dup
|
rs778435515
|
|
NM_213599.3(ANO5):c.879-7_879-6del
|
rs143977836
|
|
Single allele
|
|
|