NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)
|
rs79251326
|
0.00978
|
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)
|
rs193922854
|
0.00873
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)
|
rs150761878
|
0.00781
|
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)
|
rs11571642
|
0.00768
|
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser)
|
rs28933375
|
0.00756
|
NM_000059.4(BRCA2):c.517-19C>T
|
rs11571623
|
0.00693
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn)
|
rs45522236
|
0.00677
|
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr)
|
rs146578303
|
0.00633
|
NM_000541.5(SAG):c.1091C>T (p.Pro364Leu)
|
rs112613526
|
0.00622
|
NM_000368.5(TSC1):c.2626-3C>T
|
rs1060503192
|
0.00608
|
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His)
|
rs185002960
|
0.00608
|
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)
|
rs146092501
|
0.00602
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
NM_015570.4(AUTS2):c.2784C>T (p.Ala928=)
|
rs79439293
|
0.00558
|
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=)
|
rs140734968
|
0.00558
|
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp)
|
rs118147866
|
0.00549
|
NM_000439.5(PCSK1):c.397-10T>C
|
rs142423997
|
0.00535
|
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser)
|
rs115681466
|
0.00535
|
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser)
|
rs41312157
|
0.00531
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
NM_002156.5(HSPD1):c.27C>G (p.Arg9=)
|
rs11551349
|
0.00481
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser)
|
rs145526996
|
0.00431
|
NM_004970.3(IGFALS):c.860C>T (p.Pro287Leu)
|
rs35706152
|
0.00428
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala)
|
rs147756847
|
0.00416
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)
|
rs61749249
|
0.00399
|
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_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter)
|
rs182004761
|
0.00376
|
NM_017999.5(RNF31):c.415G>A (p.Glu139Lys)
|
rs45466595
|
0.00376
|
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)
|
rs148999583
|
0.00372
|
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp)
|
rs36078464
|
0.00371
|
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)
|
rs62653020
|
0.00366
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=)
|
rs141724499
|
0.00360
|
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln)
|
rs118083923
|
0.00359
|
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys)
|
rs146569520
|
0.00359
|
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg)
|
rs150656720
|
0.00357
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met)
|
rs113861754
|
0.00355
|
NM_000330.4(RS1):c.184+3118C>T
|
rs139155110
|
0.00352
|
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met)
|
rs61751302
|
0.00352
|
NM_139058.3(ARX):c.1671G>A (p.Thr557=)
|
rs190910161
|
0.00349
|
NM_001098816.3(TENM4):c.2804C>G (p.Pro935Arg)
|
rs141706152
|
0.00347
|
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys)
|
rs144983062
|
0.00347
|
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)
|
rs11571659
|
0.00346
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)
|
rs145110602
|
0.00343
|
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys)
|
rs139161034
|
0.00343
|
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser)
|
rs114460450
|
0.00342
|
NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His)
|
rs187956469
|
0.00341
|
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)
|
rs147025508
|
0.00338
|
NM_006393.3(NEBL):c.480+3A>G
|
rs71578983
|
0.00336
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)
|
rs118126378
|
0.00334
|
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=)
|
rs150435442
|
0.00334
|
NM_198407.2(GHSR):c.531C>A (p.Pro177=)
|
rs4988509
|
0.00334
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_000687.4(AHCY):c.274A>G (p.Ile92Val)
|
rs11552695
|
0.00327
|
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val)
|
rs45570339
|
0.00327
|
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met)
|
rs143669458
|
0.00326
|
NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr)
|
rs11553545
|
0.00322
|
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr)
|
rs193257576
|
0.00321
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_032122.5(DTNBP1):c.702C>T (p.Asn234=)
|
rs78181071
|
0.00315
|
NM_000053.4(ATP7B):c.3557-6C>T
|
rs140708492
|
0.00314
|
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)
|
rs145403829
|
0.00314
|
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)
|
rs114089598
|
0.00312
|
NM_033004.4(NLRP1):c.2605G>A (p.Glu869Lys)
|
rs146505967
|
0.00309
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe)
|
rs139913632
|
0.00307
|
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala)
|
rs145006535
|
0.00306
|
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)
|
rs1801696
|
0.00305
|
NM_015450.3(POT1):c.903G>T (p.Gln301His)
|
rs116916706
|
0.00304
|
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln)
|
rs188101277
|
0.00303
|
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)
|
rs34295241
|
0.00302
|
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=)
|
rs141743294
|
0.00302
|
NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp)
|
rs139332126
|
0.00300
|
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly)
|
rs181639116
|
0.00297
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
NM_004364.5(CEBPA):c.402G>A (p.Ala134=)
|
rs752254340
|
0.00295
|
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)
|
rs147390654
|
0.00294
|
NM_015404.4(WHRN):c.1365T>C (p.Ser455=)
|
rs111033459
|
0.00294
|
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=)
|
rs28903094
|
0.00293
|
NM_006231.4(POLE):c.16G>C (p.Gly6Arg)
|
rs202220778
|
0.00293
|
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)
|
rs2219594
|
0.00292
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)
|
rs72552293
|
0.00291
|
NM_001558.4(IL10RA):c.67+8T>C
|
rs200992970
|
0.00290
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val)
|
rs149451729
|
0.00287
|
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)
|
rs61754061
|
0.00285
|
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)
|
rs189476639
|
0.00283
|
NM_012179.4(FBXO7):c.693C>T (p.Ser231=)
|
rs61752254
|
0.00283
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
NM_018341.3(ERMARD):c.1162A>G (p.Asn388Asp)
|
rs151283330
|
0.00282
|
NM_020312.4(COQ9):c.835G>A (p.Asp279Asn)
|
rs76508383
|
0.00282
|
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala)
|
rs56204478
|
0.00282
|
NM_001909.5(CTSD):c.912G>A (p.Pro304=)
|
rs140238987
|
0.00281
|
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe)
|
rs186745328
|
0.00280
|
NM_000170.3(GLDC):c.2053-5C>G
|
rs140877566
|
0.00278
|
NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp)
|
rs143503813
|
0.00278
|
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)
|
rs141423593
|
0.00278
|
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys)
|
rs143313688
|
0.00277
|
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)
|
rs187546086
|
0.00275
|
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)
|
rs148525155
|
0.00274
|
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)
|
rs72648994
|
0.00274
|
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp)
|
rs2230516
|
0.00274
|
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)
|
rs138198461
|
0.00271
|
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)
|
rs186999408
|
0.00271
|
NM_000278.5(PAX2):c.360C>T (p.Ala120=)
|
rs41291450
|
0.00270
|
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)
|
rs142838522
|
0.00270
|
NM_015072.5(TTLL5):c.2891G>A (p.Arg964Gln)
|
rs142169707
|
0.00269
|
NM_001358530.2(MOCS1):c.124-69G>A
|
rs45487695
|
0.00266
|
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala)
|
rs201763096
|
0.00262
|
NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr)
|
rs112332762
|
0.00260
|
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala)
|
rs61752327
|
0.00260
|
NM_000431.4(MVK):c.238G>A (p.Val80Ile)
|
rs76914224
|
0.00259
|
NM_013372.7(GREM1):c.103C>G (p.Pro35Ala)
|
rs111262341
|
0.00259
|
NM_001123385.2(BCOR):c.408C>T (p.Ala136=)
|
rs139802143
|
0.00258
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)
|
rs375045076
|
0.00255
|
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)
|
rs41307461
|
0.00255
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe)
|
rs104895500
|
0.00253
|
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp)
|
rs1872267
|
0.00253
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)
|
rs147356378
|
0.00252
|
NM_000562.3(C8A):c.385G>A (p.Asp129Asn)
|
rs150404785
|
0.00251
|
NM_007315.4(STAT1):c.796G>A (p.Val266Ile)
|
rs41473544
|
0.00251
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln)
|
rs113591604
|
0.00249
|
NM_000505.4(F12):c.418C>G (p.Leu140Val)
|
rs35515200
|
0.00247
|
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=)
|
rs151287975
|
0.00246
|
NM_000098.3(CPT2):c.1806T>C (p.Phe602=)
|
rs147953465
|
0.00245
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg)
|
rs41278047
|
0.00243
|
NM_003072.5(SMARCA4):c.2275-3C>A
|
rs117611401
|
0.00243
|
NM_001291303.3(FAT4):c.5987A>G (p.Lys1996Arg)
|
rs140055438
|
0.00242
|
NM_002435.3(MPI):c.303C>T (p.Leu101=)
|
rs139228075
|
0.00240
|
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser)
|
rs149748934
|
0.00240
|
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser)
|
rs138754417
|
0.00237
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
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_207122.2(EXT2):c.710C>T (p.Ser237Leu)
|
rs139525250
|
0.00236
|
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp)
|
rs116836001
|
0.00235
|
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=)
|
rs111033292
|
0.00235
|
NM_006204.4(PDE6C):c.2037-7T>C
|
rs181296577
|
0.00234
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)
|
rs56329646
|
0.00231
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=)
|
rs147021687
|
0.00229
|
NM_001004334.4(GPR179):c.4306C>T (p.Arg1436Trp)
|
rs147966258
|
0.00228
|
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=)
|
rs193148631
|
0.00228
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00227
|
NM_001037.5(SCN1B):c.448+193G>A
|
rs66876876
|
0.00227
|
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)
|
rs141010716
|
0.00227
|
NM_014339.7(IL17RA):c.1530C>T (p.Asp510=)
|
rs148319877
|
0.00227
|
NM_001374736.1(DST):c.2256A>T (p.Ser752=)
|
rs113432929
|
0.00225
|
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)
|
rs140959406
|
0.00223
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr)
|
rs60445853
|
0.00223
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr)
|
rs199727372
|
0.00222
|
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn)
|
rs113870881
|
0.00220
|
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)
|
rs143960329
|
0.00220
|
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
|
rs146951171
|
0.00218
|
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)
|
rs140666848
|
0.00218
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg)
|
rs139075817
|
0.00217
|
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)
|
rs56157422
|
0.00217
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00215
|
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val)
|
rs181295720
|
0.00215
|
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=)
|
rs61757111
|
0.00215
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)
|
rs74360232
|
0.00215
|
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)
|
rs370286749
|
0.00214
|
NM_018699.4(PRDM5):c.1283-5C>T
|
rs185134294
|
0.00213
|
NM_000077.5(CDKN2A):c.150+37G>C
|
rs45456595
|
0.00212
|
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp)
|
rs144888041
|
0.00212
|
NM_000153.4(GALC):c.-318T>C
|
rs556647825
|
0.00210
|
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)
|
rs137973321
|
0.00210
|
NM_172364.5(CACNA2D4):c.3356C>T (p.Pro1119Leu)
|
rs145150489
|
0.00210
|
NM_000391.4(TPP1):c.293C>T (p.Thr98Met)
|
rs140726254
|
0.00209
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)
|
rs3219160
|
0.00208
|
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)
|
rs104895100
|
0.00207
|
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)
|
rs139872140
|
0.00207
|
NM_001849.4(COL6A2):c.1333-10C>G
|
rs199513044
|
0.00207
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
NM_198253.3(TERT):c.3105C>T (p.Val1035=)
|
rs181612536
|
0.00207
|
NM_000383.4(AIRE):c.1566+8C>T
|
rs72650680
|
0.00206
|
NM_000484.4(APP):c.2212-11_2212-10del
|
rs112965435
|
0.00206
|
NM_001625.4(AK2):c.602A>T (p.Tyr201Phe)
|
rs113711467
|
0.00206
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
NM_006269.2(RP1):c.4250T>C (p.Leu1417Pro)
|
rs139294220
|
0.00204
|
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln)
|
rs150374940
|
0.00202
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser)
|
rs146616621
|
0.00200
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
NM_194318.4(B3GLCT):c.271-8T>C
|
rs183322816
|
0.00199
|
NM_000260.4(MYO7A):c.3750+9G>A
|
rs111033252
|
0.00197
|
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu)
|
rs138762270
|
0.00197
|
NM_001909.5(CTSD):c.639C>G (p.Pro213=)
|
rs146073498
|
0.00197
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr)
|
rs140026883
|
0.00196
|
NM_005373.3(MPL):c.1654-10T>A
|
rs200460456
|
0.00196
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp)
|
rs139134727
|
0.00195
|
NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=)
|
rs143815273
|
0.00194
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_001012339.3(DNAJC21):c.316-8T>G
|
rs182094106
|
0.00193
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
NM_006261.5(PROP1):c.425C>T (p.Ala142Val)
|
rs143790367
|
0.00193
|
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr)
|
rs150916370
|
0.00193
|
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu)
|
rs149978500
|
0.00193
|
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg)
|
rs150319104
|
0.00192
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016
|
0.00192
|
NM_001034853.2(RPGR):c.732G>A (p.Lys244=)
|
rs62638654
|
0.00191
|
NM_001605.3(AARS1):c.2521-3C>T
|
rs200586605
|
0.00190
|
NM_003647.3(DGKE):c.1679A>G (p.Gln560Arg)
|
rs61751972
|
0.00190
|
NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=)
|
rs117685425
|
0.00190
|
NM_000096.4(CP):c.2571C>T (p.Tyr857=)
|
rs151304828
|
0.00189
|
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
|
rs191692293
|
0.00188
|
NM_080424.4(SP110):c.584-10C>G
|
rs148591984
|
0.00188
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_000166.6(GJB1):c.235C>T (p.Leu79=)
|
rs144717157
|
0.00186
|
NM_000572.3(IL10):c.43G>A (p.Gly15Arg)
|
rs145922845
|
0.00186
|
NM_001271938.2(MEGF8):c.8176C>T (p.Arg2726Cys)
|
rs141224456
|
0.00186
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)
|
rs182126530
|
0.00185
|
NM_000301.5(PLG):c.1259G>A (p.Gly420Asp)
|
rs139071351
|
0.00184
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys)
|
rs193056942
|
0.00184
|
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=)
|
rs147884766
|
0.00183
|
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=)
|
rs115003742
|
0.00183
|
NM_032520.5(GNPTG):c.741+5C>T
|
rs201263537
|
0.00183
|
NM_001130823.3(DNMT1):c.150C>T (p.His50=)
|
rs146112081
|
0.00182
|
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)
|
rs142025324
|
0.00182
|
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=)
|
rs145144233
|
0.00182
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00181
|
NM_000539.3(RHO):c.480C>A (p.Thr160=)
|
rs151063543
|
0.00180
|
NM_001171.6(ABCC6):c.1263C>T (p.Thr421=)
|
rs114179357
|
0.00180
|
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)
|
rs145007501
|
0.00179
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)
|
rs2234473
|
0.00178
|
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)
|
rs139834542
|
0.00178
|
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)
|
rs142433309
|
0.00177
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00176
|
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu)
|
rs116424900
|
0.00176
|
NM_000301.5(PLG):c.1878-6T>C
|
rs192519670
|
0.00175
|
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)
|
rs148108322
|
0.00175
|
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=)
|
rs191846522
|
0.00175
|
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile)
|
rs28359542
|
0.00175
|
NM_005450.6(NOG):c.275G>A (p.Gly92Glu)
|
rs199566527
|
0.00175
|
NM_015072.5(TTLL5):c.2603-3T>C
|
rs185326652
|
0.00175
|
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)
|
rs141818132
|
0.00175
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)
|
rs184458982
|
0.00172
|
NM_020717.5(SHROOM4):c.3611A>G (p.Glu1204Gly)
|
rs148721221
|
0.00172
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser)
|
rs113667224
|
0.00171
|
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys)
|
rs139165033
|
0.00171
|
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)
|
rs115275195
|
0.00171
|
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His)
|
rs75419644
|
0.00170
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)
|
rs56077602
|
0.00169
|
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)
|
rs143578698
|
0.00169
|
NM_033641.4(COL4A6):c.2371G>A (p.Gly791Ser)
|
rs143895379
|
0.00169
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His)
|
rs35823417
|
0.00168
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00168
|
NM_130797.4(DPP6):c.1711A>C (p.Lys571Gln)
|
rs140460765
|
0.00168
|
NM_000159.4(GCDH):c.271+3G>A
|
rs75430014
|
0.00167
|
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)
|
rs151071780
|
0.00167
|
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=)
|
rs148005445
|
0.00167
|
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=)
|
rs146588811
|
0.00167
|
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)
|
rs72659383
|
0.00166
|
NM_015268.4(DNAJC13):c.5684C>T (p.Thr1895Met)
|
rs145242123
|
0.00166
|
NM_020812.4(DOCK6):c.4862T>C (p.Val1621Ala)
|
rs201738818
|
0.00166
|
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=)
|
rs41285286
|
0.00165
|
NM_020919.4(ALS2):c.1816-8C>T
|
rs185911369
|
0.00165
|
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg)
|
rs117358479
|
0.00165
|
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg)
|
rs76897604
|
0.00164
|
NM_201548.5(CERKL):c.27G>A (p.Arg9=)
|
rs368855330
|
0.00164
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe)
|
rs141215990
|
0.00163
|
NM_001482.3(GATM):c.669T>C (p.Tyr223=)
|
rs151231277
|
0.00163
|
NM_080911.3(UNG):c.533+6G>A
|
rs55812333
|
0.00163
|
NM_001369268.1(ACAN):c.5368T>A (p.Ser1790Thr)
|
rs201149160
|
0.00162
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
NM_004946.3(DOCK2):c.4201G>T (p.Ala1401Ser)
|
rs143100569
|
0.00161
|
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)
|
rs145988230
|
0.00160
|
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
0.00160
|
NM_018979.4(WNK1):c.1074C>T (p.Thr358=)
|
rs72648621
|
0.00160
|
NM_173689.7(CRB2):c.3128C>T (p.Ser1043Phe)
|
rs35578485
|
0.00159
|
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)
|
rs4150319
|
0.00158
|
NM_000383.4(AIRE):c.1567-5C>T
|
rs192215705
|
0.00158
|
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly)
|
rs141190850
|
0.00158
|
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)
|
rs140782270
|
0.00158
|
NM_152468.5(TMC8):c.1364G>A (p.Arg455Gln)
|
rs151076155
|
0.00158
|
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala)
|
rs139453594
|
0.00157
|
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=)
|
rs151331381
|
0.00157
|
NM_019066.5(MAGEL2):c.1470G>A (p.Pro490=)
|
rs771501846
|
0.00157
|
NM_000553.6(WRN):c.355+4G>C
|
rs145764920
|
0.00156
|
NM_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys)
|
rs200929552
|
0.00156
|
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile)
|
rs146597836
|
0.00156
|
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile)
|
rs150672767
|
0.00156
|
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)
|
rs115961753
|
0.00156
|
NM_015272.5(RPGRIP1L):c.2153-4G>C
|
rs201380599
|
0.00156
|
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn)
|
rs202196322
|
0.00156
|
NM_017780.4(CHD7):c.2067G>A (p.Thr689=)
|
rs34979623
|
0.00156
|
NM_022098.4(XPNPEP3):c.590-8A>G
|
rs143719656
|
0.00156
|
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=)
|
rs201941844
|
0.00155
|
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg)
|
rs144494437
|
0.00155
|
NM_006767.4(LZTR1):c.1530C>T (p.His510=)
|
rs190714197
|
0.00155
|
NM_177965.4(CFAP418):c.528A>G (p.Thr176=)
|
rs143748636
|
0.00155
|
NM_000362.5(TIMP3):c.516C>T (p.Phe172=)
|
rs149161075
|
0.00154
|
NM_001003787.4(STRADA):c.135G>A (p.Ala45=)
|
rs56163554
|
0.00154
|
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly)
|
rs140534207
|
0.00154
|
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)
|
rs147622517
|
0.00154
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
NM_001498.4(GCLC):c.1039G>A (p.Asp347Asn)
|
rs80120302
|
0.00153
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser)
|
rs151316028
|
0.00153
|
NM_025137.4(SPG11):c.4744-6T>C
|
rs147550048
|
0.00153
|
NM_000327.4(ROM1):c.81G>T (p.Leu27=)
|
rs148196509
|
0.00152
|
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)
|
rs181099904
|
0.00151
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile)
|
rs141479751
|
0.00150
|
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val)
|
rs148337824
|
0.00150
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)
|
rs145804755
|
0.00150
|
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)
|
rs138196132
|
0.00150
|
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)
|
rs560874115
|
0.00149
|
NM_020812.4(DOCK6):c.5939+6C>T
|
rs200393834
|
0.00149
|
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val)
|
rs117440569
|
0.00148
|
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)
|
rs148072630
|
0.00148
|
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu)
|
rs189438534
|
0.00147
|
NM_004183.4(BEST1):c.637-6C>T
|
rs62639356
|
0.00147
|
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val)
|
rs144215747
|
0.00147
|
NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg)
|
rs2467827
|
0.00146
|
NM_002591.4(PCK1):c.1642G>A (p.Ala548Thr)
|
rs148684857
|
0.00146
|
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile)
|
rs35967690
|
0.00146
|
NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser)
|
rs45478900
|
0.00146
|
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_005957.5(MTHFR):c.1761C>T (p.Ala587=)
|
rs115049252
|
0.00145
|
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp)
|
rs767328866
|
0.00145
|
NM_022436.3(ABCG5):c.957C>T (p.Ser319=)
|
rs146131711
|
0.00145
|
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=)
|
rs141787212
|
0.00145
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu)
|
rs34227834
|
0.00144
|
NM_001458.5(FLNC):c.6714C>T (p.Thr2238=)
|
rs10268251
|
0.00143
|
NM_024809.5(TCTN2):c.615C>T (p.Gly205=)
|
rs147485641
|
0.00143
|
NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro)
|
rs146115506
|
0.00143
|
NM_000326.5(RLBP1):c.141+6G>A
|
rs181321141
|
0.00142
|
NM_001032283.3(TMPO):c.565+1696C>T
|
rs141443652
|
0.00142
|
NM_003737.4(DCHS1):c.1493G>A (p.Arg498Gln)
|
rs150834672
|
0.00142
|
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=)
|
rs149893977
|
0.00142
|
NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met)
|
rs111450526
|
0.00141
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
NM_002471.4(MYH6):c.5400C>T (p.Asp1800=)
|
rs144329079
|
0.00141
|
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=)
|
rs141095352
|
0.00141
|
NM_207361.6(FREM2):c.5642-9T>C
|
rs148794835
|
0.00141
|
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)
|
rs147493628
|
0.00140
|
NM_000431.4(MVK):c.924C>T (p.Leu308=)
|
rs72648042
|
0.00140
|
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln)
|
rs112414325
|
0.00140
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg)
|
rs753664726
|
0.00140
|
NM_014727.3(KMT2B):c.2268_2279dup (p.Gln759_Pro762dup)
|
rs564202766
|
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_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg)
|
rs147259983
|
0.00139
|
NM_000043.6(FAS):c.580G>A (p.Glu194Lys)
|
rs56006128
|
0.00138
|
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=)
|
rs200155519
|
0.00138
|
NM_017668.3(NDE1):c.948-2772T>C
|
rs143288748
|
0.00138
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
NM_145046.5(CALR3):c.848C>T (p.Thr283Ile)
|
rs75099211
|
0.00138
|
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285
|
0.00137
|
NM_005559.4(LAMA1):c.5867A>G (p.Asn1956Ser)
|
rs117433399
|
0.00136
|
NM_000760.4(CSF3R):c.1919C>T (p.Thr640Ile)
|
rs121918426
|
0.00135
|
NM_007315.4(STAT1):c.1222-5T>C
|
rs191364028
|
0.00135
|
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His)
|
rs201845149
|
0.00134
|
NM_005957.5(MTHFR):c.708C>T (p.Phe236=)
|
rs34279942
|
0.00134
|
NM_201384.3(PLEC):c.174+10del
|
rs528031000
|
0.00134
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_002435.3(MPI):c.10C>T (p.Pro4Ser)
|
rs143982014
|
0.00133
|
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser)
|
rs141553918
|
0.00133
|
NM_006267.5(RANBP2):c.4498G>C (p.Ala1500Pro)
|
rs145284139
|
0.00133
|
NM_012293.3(PXDN):c.19G>T (p.Gly7Cys)
|
rs775995985
|
0.00133
|
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr)
|
rs142614369
|
0.00132
|
NM_001267550.2(TTN):c.40223A>G (p.Glu13408Gly)
|
rs183950862
|
0.00132
|
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)
|
rs181626399
|
0.00132
|
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln)
|
rs145229115
|
0.00131
|
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)
|
rs201258230
|
0.00131
|
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)
|
rs186681106
|
0.00131
|
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile)
|
rs578191491
|
0.00131
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu)
|
rs104893968
|
0.00130
|
NM_006201.5(CDK16):c.727C>T (p.Leu243=)
|
rs145117961
|
0.00130
|
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)
|
rs55972547
|
0.00129
|
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val)
|
rs146709578
|
0.00129
|
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)
|
rs139872089
|
0.00129
|
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)
|
rs145564837
|
0.00128
|
NM_005559.4(LAMA1):c.181G>A (p.Val61Ile)
|
rs147676957
|
0.00128
|
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)
|
rs117587497
|
0.00128
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=)
|
rs79392371
|
0.00127
|
NM_014687.4(RUBCN):c.430G>A (p.Gly144Arg)
|
rs115638090
|
0.00127
|
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)
|
rs55712212
|
0.00126
|
NM_000081.4(LYST):c.8487C>T (p.Ile2829=)
|
rs144597913
|
0.00126
|
NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln)
|
rs184249075
|
0.00126
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His)
|
rs104894951
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)
|
rs149112292
|
0.00125
|
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)
|
rs372821643
|
0.00125
|
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser)
|
rs201044013
|
0.00125
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
NM_004369.4(COL6A3):c.489G>A (p.Ala163=)
|
rs148970984
|
0.00125
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_000151.4(G6PC1):c.340+10C>A
|
rs368450665
|
0.00124
|
NM_004727.3(SLC24A1):c.2445C>T (p.His815=)
|
rs185027365
|
0.00124
|
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=)
|
rs143511306
|
0.00124
|
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)
|
rs186394654
|
0.00124
|
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr)
|
rs61740537
|
0.00123
|
NM_006005.3(WFS1):c.2052G>A (p.Ala684=)
|
rs71539668
|
0.00123
|
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile)
|
rs117307093
|
0.00123
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)
|
rs199865688
|
0.00122
|
NM_001183.6(ATP6AP1):c.361G>C (p.Glu121Gln)
|
rs148803059
|
0.00122
|
NM_003179.3(SYP):c.877G>A (p.Gly293Ser)
|
rs139475570
|
0.00122
|
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln)
|
rs41311778
|
0.00121
|
NM_004517.4(ILK):c.631C>T (p.Arg211Cys)
|
rs140322345
|
0.00121
|
NM_005120.3(MED12):c.5400+6C>T
|
rs192656109
|
0.00121
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)
|
rs145483148
|
0.00120
|
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met)
|
rs148123045
|
0.00120
|
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)
|
rs188739870
|
0.00120
|
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu)
|
rs141783863
|
0.00119
|
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe)
|
rs35346077
|
0.00119
|
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln)
|
rs150712805
|
0.00119
|
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg)
|
rs2230210
|
0.00118
|
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721
|
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_014425.5(INVS):c.2310C>T (p.His770=)
|
rs116606949
|
0.00118
|
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala)
|
rs200042949
|
0.00118
|
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=)
|
rs529594203
|
0.00117
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser)
|
rs140157299
|
0.00117
|
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)
|
rs143523271
|
0.00116
|
NM_000426.4(LAMA2):c.255C>T (p.Ile85=)
|
rs142083777
|
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_002838.5(PTPRC):c.782G>T (p.Gly261Val)
|
rs142941257
|
0.00116
|
NM_005477.3(HCN4):c.1356C>T (p.Ser452=)
|
rs148453034
|
0.00116
|
NM_016169.4(SUFU):c.600C>T (p.Ile200=)
|
rs149513330
|
0.00116
|
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg)
|
rs375318012
|
0.00116
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
NM_000314.8(PTEN):c.-461G>A
|
rs1209261790
|
0.00114
|
NM_004183.4(BEST1):c.624G>A (p.Gln208=)
|
rs150247275
|
0.00114
|
NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr)
|
rs199936876
|
0.00114
|
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)
|
rs41313033
|
0.00113
|
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)
|
rs140640738
|
0.00113
|
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)
|
rs149567378
|
0.00113
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=)
|
rs141004967
|
0.00112
|
NM_019032.6(ADAMTSL4):c.1893G>A (p.Pro631=)
|
rs112045022
|
0.00112
|
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)
|
rs3219166
|
0.00112
|
NM_022369.4(STRA6):c.1685-5C>G
|
rs201730717
|
0.00112
|
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu)
|
rs182120395
|
0.00112
|
NM_000540.3(RYR1):c.725+6G>A
|
rs201679831
|
0.00111
|
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)
|
rs184412722
|
0.00111
|
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln)
|
rs144492145
|
0.00111
|
NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys)
|
rs146081967
|
0.00111
|
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)
|
rs55663050
|
0.00110
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)
|
rs140383655
|
0.00110
|
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
NM_000214.3(JAG1):c.2778C>T (p.Phe926=)
|
rs147793030
|
0.00109
|
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val)
|
rs188762916
|
0.00109
|
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile)
|
rs140505857
|
0.00109
|
NM_000384.3(APOB):c.2068-4T>A
|
rs41291161
|
0.00108
|
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)
|
rs148617456
|
0.00108
|
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)
|
rs191484894
|
0.00108
|
NM_002335.4(LRP5):c.3990G>A (p.Ala1330=)
|
rs147637431
|
0.00108
|
NM_006267.5(RANBP2):c.783-6T>C
|
rs138540027
|
0.00108
|
NM_000515.5(GH1):c.15C>T (p.Ser5=)
|
rs111957225
|
0.00107
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)
|
rs141980901
|
0.00107
|
NM_006950.3(SYN1):c.1107C>T (p.Ile369=)
|
rs150248483
|
0.00107
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=)
|
rs140594137
|
0.00106
|
NM_000404.4(GLB1):c.623G>A (p.Arg208His)
|
rs111840209
|
0.00106
|
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)
|
rs149855485
|
0.00106
|
NM_001395413.1(POR):c.1882G>A (p.Val628Ile)
|
rs145782750
|
0.00106
|
NM_001458.5(FLNC):c.6998-5C>T
|
rs139030003
|
0.00106
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)
|
rs144968313
|
0.00106
|
NM_201253.3(CRB1):c.484G>A (p.Val162Met)
|
rs137853138
|
0.00106
|
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)
|
rs141440861
|
0.00105
|
NM_005045.4(RELN):c.474-7T>C
|
rs55693709
|
0.00105
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00105
|
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)
|
rs138760432
|
0.00105
|
NM_201384.3(PLEC):c.2844C>T (p.Pro948=)
|
rs200482255
|
0.00105
|
NM_001184.4(ATR):c.7041+8G>A
|
rs201106004
|
0.00104
|
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=)
|
rs368682964
|
0.00104
|
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)
|
rs146627500
|
0.00104
|
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)
|
rs56264840
|
0.00104
|
NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=)
|
rs34161326
|
0.00104
|
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu)
|
rs62542664
|
0.00104
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00103
|
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)
|
rs150430592
|
0.00103
|
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)
|
rs149375775
|
0.00103
|
NM_002691.4(POLD1):c.3054G>A (p.Val1018=)
|
rs369613619
|
0.00103
|
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=)
|
rs148848282
|
0.00103
|
NM_015662.3(IFT172):c.3530+7T>C
|
rs150882197
|
0.00103
|
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00102
|
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=)
|
rs76048624
|
0.00102
|
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)
|
rs56347248
|
0.00102
|
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)
|
rs138853909
|
0.00102
|
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)
|
rs201562505
|
0.00102
|
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)
|
rs55634791
|
0.00102
|
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)
|
rs142278066
|
0.00102
|
NM_000100.4(CSTB):c.121G>A (p.Val41Met)
|
rs143153487
|
0.00101
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_006279.5(ST3GAL3):c.118+10G>C
|
rs147330005
|
0.00101
|
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)
|
rs147295026
|
0.00101
|
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)
|
rs142857685
|
0.00101
|
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)
|
rs145886657
|
0.00101
|
NM_014989.7(RIMS1):c.2699-8T>C
|
rs149883454
|
0.00100
|
NM_022369.4(STRA6):c.357C>T (p.Pro119=)
|
rs139775570
|
0.00100
|
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu)
|
rs143891379
|
0.00100
|
NM_025132.4(WDR19):c.2715G>A (p.Lys905=)
|
rs200339331
|
0.00099
|
NM_000027.4(AGA):c.762C>T (p.Ala254=)
|
rs145465919
|
0.00098
|
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser)
|
rs149258400
|
0.00098
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)
|
rs144884147
|
0.00098
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00097
|
NM_003036.4(SKI):c.798C>T (p.Ala266=)
|
rs149642284
|
0.00097
|
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)
|
rs34656239
|
0.00097
|
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)
|
rs56394008
|
0.00096
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)
|
rs141818764
|
0.00096
|
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=)
|
rs146402942
|
0.00096
|
NM_001457.4(FLNB):c.808A>G (p.Met270Val)
|
rs145036794
|
0.00096
|
NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=)
|
rs141456140
|
0.00096
|
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)
|
rs200334298
|
0.00096
|
NM_031448.6(C19orf12):c.313G>A (p.Val105Met)
|
rs146492790
|
0.00096
|
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=)
|
rs61749678
|
0.00095
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=)
|
rs142126065
|
0.00095
|
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=)
|
rs150791877
|
0.00094
|
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala)
|
rs2055006
|
0.00094
|
NM_001735.3(C5):c.3029C>T (p.Ala1010Val)
|
rs34362143
|
0.00094
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_004655.4(AXIN2):c.1101C>T (p.Pro367=)
|
rs141697521
|
0.00094
|
NM_022437.3(ABCG8):c.1941C>G (p.Val647=)
|
rs147991100
|
0.00094
|
NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr)
|
rs61742247
|
0.00093
|
NM_000466.3(PEX1):c.2926+8T>C
|
rs369877998
|
0.00093
|
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)
|
rs183245562
|
0.00093
|
NM_002227.4(JAK1):c.1951G>A (p.Val651Met)
|
rs149968614
|
0.00093
|
NM_002968.3(SALL1):c.411C>T (p.Ser137=)
|
rs151051011
|
0.00093
|
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val)
|
rs138061928
|
0.00093
|
NM_139058.3(ARX):c.802G>T (p.Val268Leu)
|
rs587783141
|
0.00093
|
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=)
|
rs144242254
|
0.00093
|
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)
|
rs146932786
|
0.00092
|
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile)
|
rs148164929
|
0.00092
|
NM_001291303.3(FAT4):c.11619C>T (p.Cys3873=)
|
rs141328606
|
0.00092
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
NM_000426.4(LAMA2):c.9211+6T>C
|
rs201375881
|
0.00091
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)
|
rs201404751
|
0.00091
|
NM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr)
|
rs146022384
|
0.00091
|
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)
|
rs61754107
|
0.00091
|
NM_182961.4(SYNE1):c.6826-6A>G
|
rs183683592
|
0.00091
|
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)
|
rs141911199
|
0.00090
|
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=)
|
rs376078394
|
0.00090
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
NM_000550.3(TYRP1):c.1029C>T (p.Asp343=)
|
rs145061390
|
0.00089
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
NM_001365951.3(KIF1B):c.2115+6581G>A
|
rs41274460
|
0.00089
|
NM_003737.4(DCHS1):c.7448C>T (p.Thr2483Ile)
|
rs146434035
|
0.00089
|
NM_014874.4(MFN2):c.1641C>T (p.Leu547=)
|
rs140924661
|
0.00089
|
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)
|
rs149260051
|
0.00089
|
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)
|
rs34919187
|
0.00088
|
NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile)
|
rs139790668
|
0.00088
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00088
|
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr)
|
rs147044066
|
0.00088
|
NM_001394062.1(MACF1):c.4045C>A (p.Leu1349Met)
|
rs141025026
|
0.00088
|
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu)
|
rs373605761
|
0.00088
|
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg)
|
rs149623054
|
0.00088
|
NM_025074.7(FRAS1):c.4095C>T (p.Ile1365=)
|
rs79869130
|
0.00088
|
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=)
|
rs148021416
|
0.00088
|
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)
|
rs41308297
|
0.00088
|
NM_000426.4(LAMA2):c.6708-3A>C
|
rs112637707
|
0.00087
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
NM_001735.3(C5):c.989T>C (p.Ile330Thr)
|
rs147430470
|
0.00087
|
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)
|
rs201437752
|
0.00086
|
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys)
|
rs201905890
|
0.00086
|
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser)
|
rs151234321
|
0.00086
|
NM_017777.4(MKS1):c.27C>T (p.Asp9=)
|
rs369488349
|
0.00086
|
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)
|
rs146062161
|
0.00086
|
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=)
|
rs371831553
|
0.00086
|
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
|
rs147707463
|
0.00085
|
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)
|
rs77300588
|
0.00085
|
NM_020066.5(FMN2):c.2572C>A (p.Pro858Thr)
|
rs140315493
|
0.00085
|
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00084
|
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro)
|
rs142476324
|
0.00084
|
NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser)
|
rs201418838
|
0.00084
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser)
|
rs200935518
|
0.00083
|
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)
|
rs200459347
|
0.00083
|
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys)
|
rs200445568
|
0.00083
|
NM_003036.4(SKI):c.216C>T (p.Pro72=)
|
rs756778048
|
0.00083
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
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_000548.5(TSC2):c.3723C>T (p.Phe1241=)
|
rs45486193
|
0.00082
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)
|
rs72648238
|
0.00082
|
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr)
|
rs200596619
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=)
|
rs148104605
|
0.00081
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_001130987.2(DYSF):c.3756+9G>T
|
rs191746041
|
0.00081
|
NM_006946.4(SPTBN2):c.157+5G>A
|
rs150159444
|
0.00081
|
NM_016373.4(WWOX):c.1178C>T (p.Thr393Met)
|
rs139253468
|
0.00081
|
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala)
|
rs145758265
|
0.00081
|
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe)
|
rs71653633
|
0.00080
|
NM_002181.4(IHH):c.857C>T (p.Pro286Leu)
|
rs140093604
|
0.00080
|
NM_004517.4(ILK):c.65A>G (p.Asn22Ser)
|
rs114115159
|
0.00080
|
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00080
|
NM_152617.4(RNF168):c.529G>A (p.Glu177Lys)
|
rs112513009
|
0.00080
|
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)
|
rs151247098
|
0.00080
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
NM_000051.4(ATM):c.7928-10T>C
|
rs188404773
|
0.00079
|
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)
|
rs62645939
|
0.00079
|
NM_000540.3(RYR1):c.10119G>A (p.Val3373=)
|
rs140689610
|
0.00079
|
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=)
|
rs187180708
|
0.00079
|
NM_001379270.1(CNGA1):c.360C>T (p.Asn120=)
|
rs147591591
|
0.00079
|
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys)
|
rs111404182
|
0.00079
|
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp)
|
rs74162075
|
0.00079
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=)
|
rs117400594
|
0.00078
|
NM_001918.5(DBT):c.327C>T (p.Thr109=)
|
rs138796800
|
0.00078
|
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)
|
rs41546712
|
0.00078
|
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=)
|
rs376049260
|
0.00078
|
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr)
|
rs116630187
|
0.00078
|
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr)
|
rs150317197
|
0.00078
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)
|
rs34700927
|
0.00077
|
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)
|
rs148169214
|
0.00077
|
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)
|
rs148058006
|
0.00077
|
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00077
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
NM_001123385.2(BCOR):c.4488A>C (p.Ala1496=)
|
rs138741225
|
0.00076
|
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser)
|
rs104895467
|
0.00076
|
NM_005245.4(FAT1):c.2734G>A (p.Val912Ile)
|
rs200097846
|
0.00076
|
NM_006005.3(WFS1):c.1152C>T (p.Phe384=)
|
rs149846741
|
0.00076
|
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=)
|
rs139404261
|
0.00076
|
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys)
|
rs201236317
|
0.00076
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)
|
rs149053004
|
0.00075
|
NM_022089.4(ATP13A2):c.106-8G>A
|
rs200587951
|
0.00075
|
NM_138694.4(PKHD1):c.7912-5T>G
|
rs371510537
|
0.00075
|
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=)
|
rs143269044
|
0.00074
|
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu)
|
rs180775012
|
0.00074
|
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys)
|
rs147869493
|
0.00074
|
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=)
|
rs200950362
|
0.00073
|
NM_001005242.3(PKP2):c.1171-10T>C
|
rs200122872
|
0.00073
|
NM_001097577.3(ANG):c.208A>G (p.Ile70Val)
|
rs121909541
|
0.00073
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)
|
rs202205643
|
0.00073
|
NM_006269.2(RP1):c.228C>T (p.Leu76=)
|
rs142600056
|
0.00073
|
NM_152468.5(TMC8):c.1168G>A (p.Val390Ile)
|
rs150546646
|
0.00073
|
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=)
|
rs149185385
|
0.00072
|
NM_014336.5(AIPL1):c.780C>T (p.His260=)
|
rs145304845
|
0.00072
|
NM_031471.6(FERMT3):c.615C>T (p.Pro205=)
|
rs142774418
|
0.00072
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys)
|
rs61741164
|
0.00071
|
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)
|
rs147523071
|
0.00071
|
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=)
|
rs370996795
|
0.00071
|
NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=)
|
rs148535912
|
0.00071
|
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)
|
rs200048692
|
0.00071
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00070
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=)
|
rs143651470
|
0.00070
|
NM_006904.7(PRKDC):c.4009G>A (p.Val1337Ile)
|
rs56080897
|
0.00070
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
NM_025074.7(FRAS1):c.1783G>A (p.Gly595Ser)
|
rs149843493
|
0.00070
|
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu)
|
rs34521483
|
0.00070
|
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp)
|
rs138130914
|
0.00070
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
NM_000029.4(AGT):c.842A>G (p.Tyr281Cys)
|
rs56073403
|
0.00069
|
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=)
|
rs146839867
|
0.00069
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)
|
rs184319249
|
0.00069
|
NM_001558.4(IL10RA):c.1235G>A (p.Arg412Gln)
|
rs117423374
|
0.00069
|
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
|
rs145619906
|
0.00069
|
NM_001080449.3(DNA2):c.1796G>A (p.Arg599His)
|
rs201999986
|
0.00068
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met)
|
rs145502954
|
0.00068
|
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln)
|
rs149641783
|
0.00068
|
NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln)
|
rs200507617
|
0.00068
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
0.00068
|
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val)
|
rs142768885
|
0.00068
|
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)
|
rs78388808
|
0.00068
|
NM_006642.5(SDCCAG8):c.1474-6C>T
|
rs376414138
|
0.00068
|
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly)
|
rs202093691
|
0.00068
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=)
|
rs111683745
|
0.00068
|
NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro)
|
rs143346057
|
0.00067
|
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
|
rs146868519
|
0.00067
|
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)
|
rs757712173
|
0.00067
|
NM_020964.3(EPG5):c.299C>T (p.Thr100Ile)
|
rs200530606
|
0.00067
|
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr)
|
rs45563942
|
0.00066
|
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=)
|
rs41308303
|
0.00066
|
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=)
|
rs200750234
|
0.00066
|
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)
|
rs202238753
|
0.00066
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
NM_001558.4(IL10RA):c.1072G>A (p.Asp358Asn)
|
rs78753252
|
0.00066
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_005591.4(MRE11):c.120C>T (p.Leu40=)
|
rs1805364
|
0.00066
|
NM_005633.4(SOS1):c.3391+7A>G
|
rs201982464
|
0.00066
|
NM_024301.5(FKRP):c.606G>A (p.Leu202=)
|
rs140084192
|
0.00066
|
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val)
|
rs142981643
|
0.00066
|
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=)
|
rs112634620
|
0.00066
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
NM_001142864.4(PIEZO1):c.1495G>A (p.Val499Ile)
|
rs530486445
|
0.00065
|
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu)
|
rs201713027
|
0.00065
|
NM_006158.5(NEFL):c.639C>G (p.Ile213Met)
|
rs62636522
|
0.00065
|
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val)
|
rs200646244
|
0.00065
|
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)
|
rs147936946
|
0.00064
|
NM_001015880.2(PAPSS2):c.1167C>T (p.Asp389=)
|
rs145242127
|
0.00064
|
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=)
|
rs377180286
|
0.00064
|
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)
|
rs150669855
|
0.00064
|
NM_004655.4(AXIN2):c.2285G>A (p.Ser762Asn)
|
rs117688560
|
0.00064
|
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser)
|
rs201503021
|
0.00064
|
NM_007126.5(VCP):c.1584C>T (p.Ala528=)
|
rs147623367
|
0.00064
|
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln)
|
rs117647282
|
0.00064
|
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=)
|
rs115994665
|
0.00063
|
NM_000543.5(SMPD1):c.8G>A (p.Arg3His)
|
rs199836262
|
0.00063
|
NM_001267550.2(TTN):c.55659G>A (p.Val18553=)
|
rs368450420
|
0.00063
|
NM_001379500.1(COL18A1):c.107-12197G>A
|
rs200284308
|
0.00063
|
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly)
|
rs141619382
|
0.00063
|
NM_006516.4(SLC2A1):c.276-7T>C
|
rs369273744
|
0.00063
|
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)
|
rs138724933
|
0.00063
|
NM_019066.5(MAGEL2):c.919C>T (p.Pro307Ser)
|
rs555920534
|
0.00063
|
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)
|
rs146451037
|
0.00063
|
NM_182919.4(TICAM1):c.238G>A (p.Val80Met)
|
rs199816697
|
0.00063
|
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)
|
rs139544114
|
0.00062
|
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val)
|
rs200074974
|
0.00062
|
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)
|
rs200662317
|
0.00062
|
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)
|
rs147000526
|
0.00062
|
NM_013382.7(POMT2):c.1701C>G (p.Pro567=)
|
rs151051452
|
0.00062
|
NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln)
|
rs151317163
|
0.00062
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
NM_001130438.3(SPTAN1):c.7161-9C>T
|
rs187613754
|
0.00061
|
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)
|
rs190636272
|
0.00061
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr)
|
rs367949317
|
0.00061
|
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg)
|
rs201635205
|
0.00061
|
NM_002474.3(MYH11):c.2049C>T (p.His683=)
|
rs150924100
|
0.00061
|
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)
|
rs140769107
|
0.00061
|
NM_005883.3(APC2):c.4557G>A (p.Pro1519=)
|
rs111280997
|
0.00061
|
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=)
|
rs142459158
|
0.00061
|
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=)
|
rs374146357
|
0.00061
|
NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr)
|
rs149300669
|
0.00061
|
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)
|
rs202219507
|
0.00061
|
NM_024422.6(DSC2):c.2498G>A (p.Arg833His)
|
rs370325533
|
0.00061
|
NM_031220.4(PITPNM3):c.987G>A (p.Leu329=)
|
rs148451236
|
0.00061
|
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)
|
rs200816323
|
0.00061
|
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu)
|
rs146490788
|
0.00061
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
0.00060
|
NM_001105206.3(LAMA4):c.196-15G>C
|
rs371906362
|
0.00060
|
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg)
|
rs189525930
|
0.00060
|
NM_002691.4(POLD1):c.883G>A (p.Val295Met)
|
rs199545019
|
0.00060
|
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)
|
rs200115167
|
0.00060
|
NM_000222.3(KIT):c.1195G>A (p.Val399Ile)
|
rs143707288
|
0.00059
|
NM_000431.4(MVK):c.441C>T (p.Ala147=)
|
rs138342076
|
0.00059
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=)
|
rs202150325
|
0.00059
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
NM_005708.5(GPC6):c.710A>G (p.Lys237Arg)
|
rs201337600
|
0.00059
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998
|
0.00059
|
NM_000039.3(APOA1):c.562G>T (p.Ala188Ser)
|
rs140770089
|
0.00058
|
NM_000081.4(LYST):c.2363+10dup
|
rs760632806
|
0.00058
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
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_005220.3(DLX3):c.82G>T (p.Asp28Tyr)
|
rs147702169
|
0.00058
|
NM_006493.4(CLN5):c.459G>A (p.Met153Ile)
|
rs144656959
|
0.00058
|
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser)
|
rs794727076
|
0.00058
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
NM_080424.4(SP110):c.1591-9C>T
|
rs202101309
|
0.00058
|
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu)
|
rs144826521
|
0.00058
|
NM_133459.4(CCBE1):c.101C>A (p.Thr34Asn)
|
rs191999971
|
0.00058
|
NM_182914.3(SYNE2):c.10494A>G (p.Thr3498=)
|
rs201000414
|
0.00058
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)
|
rs138704724
|
0.00057
|
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)
|
rs376283361
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_002474.3(MYH11):c.12G>A (p.Lys4=)
|
rs112650390
|
0.00057
|
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00056
|
NM_000215.4(JAK3):c.2152G>C (p.Val718Leu)
|
rs146837396
|
0.00056
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
NM_002693.3(POLG):c.1275C>T (p.Ala425=)
|
rs147404477
|
0.00056
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00056
|
NM_002693.3(POLG):c.798G>T (p.Val266=)
|
rs143631183
|
0.00056
|
NM_005477.3(HCN4):c.2739G>A (p.Ala913=)
|
rs373411041
|
0.00056
|
NM_015346.4(ZFYVE26):c.5401G>A (p.Ala1801Thr)
|
rs138965635
|
0.00056
|
NM_024422.6(DSC2):c.270G>A (p.Glu90=)
|
rs138643506
|
0.00056
|
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg)
|
rs201964644
|
0.00055
|
NM_014639.4(SKIC3):c.3341+9A>G
|
rs376170264
|
0.00055
|
NM_015404.4(WHRN):c.1455G>A (p.Pro485=)
|
rs141807746
|
0.00055
|
NM_000350.3(ABCA4):c.981C>T (p.Pro327=)
|
rs61753057
|
0.00054
|
NM_000553.6(WRN):c.3453G>A (p.Glu1151=)
|
rs144116311
|
0.00054
|
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
|
rs113451409
|
0.00054
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
NM_005045.4(RELN):c.6939T>C (p.Ile2313=)
|
rs113498433
|
0.00054
|
NM_006031.6(PCNT):c.8702C>T (p.Pro2901Leu)
|
rs150615481
|
0.00054
|
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=)
|
rs141078449
|
0.00054
|
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)
|
rs149163661
|
0.00054
|
NM_201384.3(PLEC):c.6426C>T (p.Ala2142=)
|
rs200062782
|
0.00054
|
NM_206933.4(USH2A):c.7301-6C>T
|
rs375499259
|
0.00054
|
NM_000059.4(BRCA2):c.7435+6G>A
|
rs81002852
|
0.00053
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
NM_000245.4(MET):c.607T>A (p.Ser203Thr)
|
rs200861145
|
0.00053
|
NM_000390.4(CHM):c.1244+8T>A
|
rs369829791
|
0.00053
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)
|
rs147992238
|
0.00053
|
NM_001082486.2(ACD):c.22G>A (p.Val8Ile)
|
rs149365469
|
0.00053
|
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)
|
rs144722432
|
0.00053
|
NM_001793.6(CDH3):c.1443C>T (p.Asp481=)
|
rs144403828
|
0.00053
|
NM_003482.4(KMT2D):c.6354C>T (p.Pro2118=)
|
rs377392943
|
0.00053
|
NM_015294.6(TRIM37):c.2240A>G (p.Asn747Ser)
|
rs143613788
|
0.00053
|
NM_017553.3(INO80):c.2998C>T (p.Arg1000Cys)
|
rs149600837
|
0.00053
|
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser)
|
rs112039037
|
0.00053
|
NM_030957.4(ADAMTS10):c.506G>A (p.Arg169Gln)
|
rs151257275
|
0.00053
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
0.00052
|
NM_006440.5(TXNRD2):c.1174T>C (p.Tyr392His)
|
rs201971987
|
0.00052
|
NM_024408.4(NOTCH2):c.1567+8C>T
|
rs372367275
|
0.00052
|
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His)
|
rs146801942
|
0.00052
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr)
|
rs553227769
|
0.00051
|
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp)
|
rs104895452
|
0.00051
|
NM_012210.4(TRIM32):c.276C>T (p.Ser92=)
|
rs140589523
|
0.00051
|
NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn)
|
rs143290224
|
0.00051
|
NM_015922.3(NSDHL):c.65C>T (p.Thr22Ile)
|
rs375100066
|
0.00051
|
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser)
|
rs113107733
|
0.00051
|
NM_144599.5(NIPA1):c.312G>A (p.Pro104=)
|
rs139372534
|
0.00051
|
NM_001202.6(BMP4):c.345C>T (p.Asn115=)
|
rs143687498
|
0.00050
|
NM_001324144.2(ZNF41):c.2114G>A (p.Arg705His)
|
rs144904486
|
0.00050
|
NM_004484.4(GPC3):c.660C>T (p.Ser220=)
|
rs138450923
|
0.00050
|
NM_182961.4(SYNE1):c.17542-7G>A
|
rs199762799
|
0.00050
|
NM_000186.4(CFH):c.285T>C (p.Thr95=)
|
rs148182625
|
0.00049
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429
|
0.00049
|
NM_000352.6(ABCC8):c.3867+7G>A
|
rs372198547
|
0.00049
|
NM_000535.7(PMS2):c.354-34C>G
|
rs200029834
|
0.00049
|
NM_001035.3(RYR2):c.9450-3T>C
|
rs188671846
|
0.00049
|
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)
|
rs147946775
|
0.00049
|
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)
|
rs200650668
|
0.00049
|
NM_004407.4(DMP1):c.1107C>T (p.Asp369=)
|
rs147451774
|
0.00049
|
NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg)
|
rs142348767
|
0.00049
|
NM_025074.7(FRAS1):c.5725G>A (p.Val1909Ile)
|
rs182652779
|
0.00049
|
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg)
|
rs554853074
|
0.00048
|
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys)
|
rs751423106
|
0.00048
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr)
|
rs200161949
|
0.00047
|
NM_001142864.4(PIEZO1):c.6781A>G (p.Ser2261Gly)
|
rs550322372
|
0.00047
|
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)
|
rs140714512
|
0.00047
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)
|
rs147192139
|
0.00047
|
NM_004859.4(CLTC):c.4493G>A (p.Arg1498His)
|
rs117813867
|
0.00047
|
NM_005120.3(MED12):c.2613G>A (p.Gln871=)
|
rs372344160
|
0.00047
|
NM_006031.6(PCNT):c.2610-8T>C
|
rs377164652
|
0.00047
|
NM_006231.4(POLE):c.5659G>A (p.Val1887Met)
|
rs114119067
|
0.00047
|
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)
|
rs3739173
|
0.00047
|
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile)
|
rs200776757
|
0.00047
|
NM_138295.5(PKD1L1):c.5108G>A (p.Arg1703His)
|
rs146605392
|
0.00047
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
NM_000081.4(LYST):c.143A>G (p.His48Arg)
|
rs200132460
|
0.00046
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
NM_000489.6(ATRX):c.4120+4A>C
|
rs200420513
|
0.00046
|
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)
|
rs373721253
|
0.00046
|
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)
|
rs202029322
|
0.00046
|
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu)
|
rs398124448
|
0.00046
|
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)
|
rs147102633
|
0.00046
|
NM_004006.3(DMD):c.2457A>C (p.Leu819=)
|
rs72468680
|
0.00046
|
NM_006486.3(FBLN1):c.286G>A (p.Gly96Ser)
|
rs199802935
|
0.00046
|
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)
|
rs568801926
|
0.00046
|
NM_153704.6(TMEM67):c.369C>T (p.Ala123=)
|
rs115640152
|
0.00046
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
NM_000214.3(JAG1):c.1755C>T (p.Asn585=)
|
rs142808131
|
0.00045
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00045
|
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser)
|
rs141670808
|
0.00045
|
NM_001042432.2(CLN3):c.831G>A (p.Val277=)
|
rs1142183
|
0.00045
|
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)
|
rs200149062
|
0.00045
|
NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu)
|
rs139504522
|
0.00045
|
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=)
|
rs200237564
|
0.00045
|
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser)
|
rs140170914
|
0.00045
|
NM_014336.5(AIPL1):c.627G>A (p.Arg209=)
|
rs142319505
|
0.00045
|
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr)
|
rs146968463
|
0.00045
|
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=)
|
rs568700183
|
0.00045
|
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln)
|
rs201747452
|
0.00045
|
NM_133379.5(TTN):c.16328T>C (p.Val5443Ala)
|
rs145183384
|
0.00045
|
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=)
|
rs147098353
|
0.00044
|
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)
|
rs140250347
|
0.00044
|
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)
|
rs142334798
|
0.00044
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00044
|
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)
|
rs143464326
|
0.00043
|
NM_001267550.2(TTN):c.14911T>G (p.Cys4971Gly)
|
rs537312655
|
0.00043
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00043
|
NM_001270508.2(TNFAIP3):c.2231G>A (p.Gly744Asp)
|
rs150355046
|
0.00043
|
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr)
|
rs144710810
|
0.00043
|
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)
|
rs143048583
|
0.00043
|
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser)
|
rs62640028
|
0.00043
|
NM_000186.4(CFH):c.2077G>A (p.Asp693Asn)
|
rs148403790
|
0.00042
|
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)
|
rs201394117
|
0.00042
|
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)
|
rs72648971
|
0.00042
|
NM_001267550.2(TTN):c.39044-9T>A
|
rs184888200
|
0.00042
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
NM_002335.4(LRP5):c.1585-9G>A
|
rs202067798
|
0.00042
|
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)
|
rs139145143
|
0.00042
|
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)
|
rs121909633
|
0.00042
|
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp)
|
rs146646008
|
0.00041
|
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)
|
rs147420365
|
0.00041
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
NM_001061.7(TBXAS1):c.335C>T (p.Ala112Val)
|
rs139976441
|
0.00041
|
NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=)
|
rs200703321
|
0.00041
|
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys)
|
rs200144345
|
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_001374353.1(GLI2):c.3672G>A (p.Met1224Ile)
|
rs138191075
|
0.00041
|
NM_002471.4(MYH6):c.643-5C>T
|
rs199859986
|
0.00041
|
NM_004415.4(DSP):c.2723G>A (p.Arg908His)
|
rs142494121
|
0.00041
|
NM_016247.4(IMPG2):c.1495C>A (p.Pro499Thr)
|
rs143635399
|
0.00041
|
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr)
|
rs150587582
|
0.00041
|
NM_030665.4(RAI1):c.1941C>T (p.Ser647=)
|
rs140198185
|
0.00041
|
NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala)
|
rs144659635
|
0.00040
|
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)
|
rs201206239
|
0.00040
|
NM_001142800.2(EYS):c.2598C>T (p.Cys866=)
|
rs183814213
|
0.00040
|
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His)
|
rs201080904
|
0.00040
|
NM_001368067.1(LDB3):c.771G>A (p.Thr257=)
|
rs144445130
|
0.00040
|
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu)
|
rs200716582
|
0.00040
|
NM_017780.4(CHD7):c.2751G>A (p.Thr917=)
|
rs369429961
|
0.00040
|
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser)
|
rs760039339
|
0.00040
|
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser)
|
rs201922441
|
0.00040
|
NM_000433.4(NCF2):c.93C>T (p.Ala31=)
|
rs143889676
|
0.00039
|
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly)
|
rs150084275
|
0.00039
|
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)
|
rs202089818
|
0.00039
|
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)
|
rs201816080
|
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_003235.5(TG):c.4527C>T (p.His1509=)
|
rs201216611
|
0.00039
|
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)
|
rs146720775
|
0.00039
|
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)
|
rs141845119
|
0.00039
|
NM_018896.5(CACNA1G):c.6710C>A (p.Pro2237His)
|
rs200141555
|
0.00039
|
NM_020717.5(SHROOM4):c.1675G>A (p.Glu559Lys)
|
rs151329289
|
0.00039
|
NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys)
|
rs149243712
|
0.00039
|
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=)
|
rs139070070
|
0.00038
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu)
|
rs141181035
|
0.00038
|
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
|
rs143477661
|
0.00038
|
NM_001368894.2(PAX6):c.753G>A (p.Val251=)
|
rs145329506
|
0.00038
|
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser)
|
rs150983093
|
0.00038
|
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro)
|
rs199681901
|
0.00038
|
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=)
|
rs144028766
|
0.00038
|
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)
|
rs142303658
|
0.00038
|
NM_020919.4(ALS2):c.1641G>A (p.Arg547=)
|
rs34122078
|
0.00038
|
NM_138694.4(PKHD1):c.1234-9T>C
|
rs200707468
|
0.00038
|
NM_000098.3(CPT2):c.1602G>A (p.Glu534=)
|
rs148110518
|
0.00037
|
NM_000179.3(MSH6):c.1449G>T (p.Val483=)
|
rs35590297
|
0.00037
|
NM_018648.4(NOP10):c.55-9C>T
|
rs72720799
|
0.00037
|
NM_000258.3(MYL3):c.307+15C>T
|
rs184025552
|
0.00036
|
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met)
|
rs74772771
|
0.00036
|
NM_001184.4(ATR):c.4405A>G (p.Thr1469Ala)
|
rs78895258
|
0.00036
|
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)
|
rs140942979
|
0.00036
|
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=)
|
rs372671421
|
0.00036
|
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)
|
rs145611185
|
0.00036
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
NM_005477.3(HCN4):c.2181C>T (p.His727=)
|
rs140354126
|
0.00036
|
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)
|
rs115976458
|
0.00036
|
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu)
|
rs150654176
|
0.00036
|
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln)
|
rs28932180
|
0.00036
|
NM_133379.5(TTN):c.10646G>A (p.Arg3549His)
|
rs148115514
|
0.00036
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_000257.4(MYH7):c.2334C>T (p.Asp778=)
|
rs2069544
|
0.00035
|
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro)
|
rs199874790
|
0.00035
|
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)
|
rs143142641
|
0.00035
|
NM_139125.4(MASP1):c.910C>A (p.Leu304Ile)
|
rs145057248
|
0.00035
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)
|
rs1800091
|
0.00034
|
NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg)
|
rs371580084
|
0.00034
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn)
|
rs200648652
|
0.00034
|
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg)
|
rs142744204
|
0.00034
|
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln)
|
rs138143719
|
0.00034
|
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr)
|
rs375998236
|
0.00034
|
NM_003673.4(TCAP):c.60C>G (p.Ala20=)
|
rs146502276
|
0.00034
|
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)
|
rs41272437
|
0.00034
|
NM_024426.6(WT1):c.662-6C>A
|
rs372418954
|
0.00034
|
NM_025074.7(FRAS1):c.4334C>T (p.Thr1445Ile)
|
rs200123789
|
0.00034
|
NM_032520.5(GNPTG):c.264C>T (p.Asn88=)
|
rs145313679
|
0.00034
|
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys)
|
rs142435467
|
0.00033
|
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys)
|
rs140950898
|
0.00033
|
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)
|
rs141608712
|
0.00033
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=)
|
rs377388669
|
0.00032
|
NM_001267550.2(TTN):c.72723C>G (p.Val24241=)
|
rs372701206
|
0.00032
|
NM_003242.6(TGFBR2):c.1525-7G>A
|
rs377499122
|
0.00032
|
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)
|
rs727503828
|
0.00032
|
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met)
|
rs149024147
|
0.00032
|
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)
|
rs150036969
|
0.00032
|
NM_021072.4(HCN1):c.240C>A (p.Gly80=)
|
rs373664268
|
0.00032
|
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=)
|
rs149176010
|
0.00032
|
NM_000180.4(GUCY2D):c.921C>T (p.Ala307=)
|
rs148136213
|
0.00031
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
NM_001110556.2(FLNA):c.1691+7C>A
|
rs199565118
|
0.00031
|
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=)
|
rs374168580
|
0.00031
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)
|
rs72648221
|
0.00031
|
NM_001267550.2(TTN):c.86526T>G (p.Val28842=)
|
rs72648226
|
0.00031
|
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His)
|
rs72648251
|
0.00031
|
NM_001457.4(FLNB):c.4903G>A (p.Gly1635Ser)
|
rs139046903
|
0.00031
|
NM_001851.6(COL9A1):c.460G>C (p.Val154Leu)
|
rs138583508
|
0.00031
|
NM_002163.4(IRF8):c.982T>G (p.Phe328Val)
|
rs202046728
|
0.00031
|
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala)
|
rs560217758
|
0.00031
|
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu)
|
rs149764887
|
0.00031
|
NM_006059.4(LAMC3):c.290A>G (p.Gln97Arg)
|
rs141758463
|
0.00031
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala)
|
rs142951316
|
0.00031
|
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=)
|
rs372686070
|
0.00030
|
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala)
|
rs372782502
|
0.00030
|
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)
|
rs202064385
|
0.00030
|
NM_001927.4(DES):c.924C>T (p.Asn308=)
|
rs578191306
|
0.00030
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)
|
rs141637316
|
0.00030
|
NM_172364.5(CACNA2D4):c.1509C>T (p.Ser503=)
|
rs199888783
|
0.00030
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
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.74602A>G (p.Ile24868Val)
|
rs72646898
|
0.00029
|
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)
|
rs150682314
|
0.00029
|
NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser)
|
rs767013819
|
0.00029
|
NM_004260.4(RECQL4):c.2260C>T (p.Arg754Trp)
|
rs193024188
|
0.00029
|
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=)
|
rs146168040
|
0.00029
|
NM_006059.4(LAMC3):c.4415G>A (p.Arg1472Gln)
|
rs137894550
|
0.00029
|
NM_017553.3(INO80):c.1833C>T (p.Phe611=)
|
rs147454171
|
0.00029
|
NM_000093.5(COL5A1):c.3474+7C>T
|
rs550497696
|
0.00028
|
NM_001110556.2(FLNA):c.5313+4C>T
|
rs377330443
|
0.00028
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)
|
rs72677223
|
0.00028
|
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)
|
rs200689750
|
0.00028
|
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)
|
rs146941600
|
0.00028
|
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=)
|
rs368686031
|
0.00028
|
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=)
|
rs377281121
|
0.00028
|
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)
|
rs144600401
|
0.00028
|
NM_004281.4(BAG3):c.771C>T (p.Pro257=)
|
rs200212999
|
0.00028
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
NM_130837.3(OPA1):c.2088G>A (p.Ala696=)
|
rs138114609
|
0.00028
|
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val)
|
rs202052403
|
0.00028
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg)
|
rs199875457
|
0.00027
|
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)
|
rs147795644
|
0.00027
|
NM_000455.5(STK11):c.*8C>T
|
rs587782259
|
0.00027
|
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser)
|
rs200866883
|
0.00027
|
NM_001267550.2(TTN):c.41330-7T>A
|
rs373636988
|
0.00027
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val)
|
rs143396390
|
0.00027
|
NM_000043.6(FAS):c.578A>G (p.Lys193Arg)
|
rs150489856
|
0.00026
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu)
|
rs146623472
|
0.00026
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
0.00026
|
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)
|
rs549894501
|
0.00026
|
NM_000532.5(PCCB):c.82C>G (p.Leu28Val)
|
rs141137691
|
0.00026
|
NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met)
|
rs564570407
|
0.00026
|
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)
|
rs199804623
|
0.00026
|
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=)
|
rs201246720
|
0.00026
|
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=)
|
rs145133144
|
0.00026
|
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)
|
rs373206096
|
0.00026
|
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu)
|
rs563981206
|
0.00026
|
NM_004387.4(NKX2-5):c.632C>T (p.Pro211Leu)
|
rs3729754
|
0.00026
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00026
|
NM_020919.4(ALS2):c.1677A>G (p.Lys559=)
|
rs367640165
|
0.00026
|
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)
|
rs145132275
|
0.00026
|
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00025
|
NM_000552.5(VWF):c.6377T>C (p.Ile2126Thr)
|
rs71579338
|
0.00025
|
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln)
|
rs150628823
|
0.00025
|
NM_001077653.2(TBX20):c.414G>A (p.Ser138=)
|
rs144597480
|
0.00025
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)
|
rs201903713
|
0.00025
|
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met)
|
rs148498577
|
0.00024
|
NM_001042681.2(RERE):c.1964C>T (p.Ala655Val)
|
rs149900041
|
0.00024
|
NM_001127222.2(CACNA1A):c.7291G>A (p.Ala2431Thr)
|
rs1052515747
|
0.00024
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)
|
rs72646839
|
0.00024
|
NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln)
|
rs199788826
|
0.00024
|
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)
|
rs370479059
|
0.00024
|
NM_001375808.2(LPIN2):c.1168+6C>T
|
rs200130790
|
0.00024
|
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)
|
rs145042175
|
0.00024
|
NM_003322.6(TULP1):c.190+6C>T
|
rs529180227
|
0.00024
|
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile)
|
rs377156351
|
0.00024
|
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)
|
rs202004152
|
0.00024
|
NM_015991.4(C1QA):c.581A>C (p.Asn194Thr)
|
rs201816009
|
0.00024
|
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu)
|
rs375897519
|
0.00024
|
NM_057175.5(NAA15):c.2350A>G (p.Ile784Val)
|
rs201001193
|
0.00024
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
NM_153033.5(KCTD7):c.687T>C (p.Asp229=)
|
rs372150992
|
0.00024
|
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)
|
rs200626788
|
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.98726T>C (p.Val32909Ala)
|
rs368877793
|
0.00023
|
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn)
|
rs374411782
|
0.00023
|
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=)
|
rs144434028
|
0.00023
|
NM_006005.3(WFS1):c.2250C>T (p.Ala750=)
|
rs369498603
|
0.00023
|
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)
|
rs375991767
|
0.00023
|
NM_000209.4(PDX1):c.418G>A (p.Ala140Thr)
|
rs143517122
|
0.00022
|
NM_000240.4(MAOA):c.1559A>G (p.Lys520Arg)
|
rs1800466
|
0.00022
|
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)
|
rs56061641
|
0.00022
|
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=)
|
rs771914973
|
0.00022
|
NM_014467.3(SRPX2):c.693C>A (p.His231Gln)
|
rs142719253
|
0.00022
|
NM_024301.5(FKRP):c.885C>T (p.Arg295=)
|
rs769005880
|
0.00022
|
NM_024426.6(WT1):c.760C>T (p.Pro254Ser)
|
rs2234584
|
0.00022
|
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg)
|
rs565065320
|
0.00022
|
NM_025099.6(CTC1):c.3515-10C>T
|
rs200225342
|
0.00022
|
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val)
|
rs199855658
|
0.00021
|
NM_000345.4(SNCA):c.216G>A (p.Thr72=)
|
rs144758871
|
0.00021
|
NM_001267550.2(TTN):c.28644G>A (p.Thr9548=)
|
rs376744914
|
0.00021
|
NM_001267550.2(TTN):c.62280T>C (p.Val20760=)
|
rs372065796
|
0.00021
|
NM_001267550.2(TTN):c.62424C>T (p.Asp20808=)
|
rs374472044
|
0.00021
|
NM_004100.5(EYA4):c.987G>T (p.Met329Ile)
|
rs146144708
|
0.00021
|
NM_006005.3(WFS1):c.1758C>T (p.Ala586=)
|
rs145144527
|
0.00021
|
NM_006432.5(NPC2):c.292A>C (p.Asn98His)
|
rs142858704
|
0.00021
|
NM_014425.5(INVS):c.67G>A (p.Val23Ile)
|
rs145303373
|
0.00021
|
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=)
|
rs61743849
|
0.00021
|
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)
|
rs62626271
|
0.00021
|
NM_133379.5(TTN):c.16020T>C (p.His5340=)
|
rs200378944
|
0.00021
|
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)
|
rs17847242
|
0.00021
|
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)
|
rs104894363
|
0.00020
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
NM_001278064.2(GRM1):c.2725A>C (p.Met909Leu)
|
rs138759146
|
0.00020
|
NM_002055.5(GFAP):c.329C>G (p.Thr110Ser)
|
rs147282497
|
0.00020
|
NM_004972.4(JAK2):c.143G>A (p.Gly48Glu)
|
rs143227399
|
0.00020
|
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)
|
rs534886444
|
0.00020
|
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)
|
rs201295052
|
0.00020
|
NM_201548.5(CERKL):c.900T>C (p.His300=)
|
rs183252158
|
0.00020
|
NM_203290.4(POLR1C):c.490G>A (p.Val164Met)
|
rs200525225
|
0.00020
|
NM_000026.4(ADSL):c.357+7G>A
|
rs199993991
|
0.00019
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys)
|
rs55794205
|
0.00019
|
NM_000384.3(APOB):c.13444A>G (p.Ile4482Val)
|
rs142702699
|
0.00019
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
NM_000541.5(SAG):c.1167T>A (p.Asp389Glu)
|
rs199798289
|
0.00019
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=)
|
rs797045630
|
0.00019
|
NM_001165963.4(SCN1A):c.694+10A>G
|
rs373417440
|
0.00019
|
NM_001261826.3(AP3D1):c.2254A>G (p.Lys752Glu)
|
rs201042393
|
0.00019
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=)
|
rs200698497
|
0.00019
|
NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=)
|
rs55830572
|
0.00019
|
NM_003737.4(DCHS1):c.4553G>A (p.Arg1518Gln)
|
rs753287108
|
0.00019
|
NM_004985.5(KRAS):c.451-5535A>C
|
rs201170656
|
0.00019
|
NM_014714.4(IFT140):c.2787G>A (p.Thr929=)
|
rs374661866
|
0.00019
|
NM_015450.3(POT1):c.64A>G (p.Ile22Val)
|
rs375440229
|
0.00019
|
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val)
|
rs376934539
|
0.00019
|
NM_018713.3(SLC30A10):c.269C>T (p.Thr90Ile)
|
rs554675480
|
0.00019
|
NM_024426.6(WT1):c.193G>A (p.Gly65Arg)
|
rs374404615
|
0.00019
|
NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys)
|
rs201084185
|
0.00019
|
NM_152564.5(VPS13B):c.4225-6G>A
|
rs199755508
|
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_198282.4(STING1):c.575G>T (p.Gly192Val)
|
rs201096097
|
0.00019
|
NM_000038.6(APC):c.4237A>G (p.Met1413Val)
|
rs141519952
|
0.00018
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)
|
rs55906845
|
0.00018
|
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=)
|
rs775954427
|
0.00018
|
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)
|
rs373491468
|
0.00018
|
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=)
|
rs377164046
|
0.00018
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
NM_001366385.1(CARD14):c.2476C>T (p.Arg826Trp)
|
rs139467141
|
0.00018
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
NM_001267550.2(TTN):c.65575+10T>C
|
rs72646864
|
0.00017
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
NM_001291303.3(FAT4):c.6977C>T (p.Thr2326Ile)
|
rs200344386
|
0.00017
|
NM_001367624.2(ZNF469):c.7850G>A (p.Arg2617Gln)
|
rs200019229
|
0.00017
|
NM_004407.4(DMP1):c.1396A>G (p.Ser466Gly)
|
rs770626072
|
0.00017
|
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala)
|
rs376612687
|
0.00017
|
NM_130837.3(OPA1):c.70A>G (p.Ile24Val)
|
rs201520438
|
0.00017
|
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)
|
rs143352280
|
0.00016
|
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=)
|
rs376041792
|
0.00016
|
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=)
|
rs372502369
|
0.00016
|
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=)
|
rs570316231
|
0.00016
|
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr)
|
rs1799792
|
0.00016
|
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val)
|
rs145129959
|
0.00016
|
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser)
|
rs200242235
|
0.00016
|
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln)
|
rs117551279
|
0.00016
|
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)
|
rs375006117
|
0.00016
|
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=)
|
rs72648230
|
0.00016
|
NM_001289125.3(IFNAR2):c.1315G>A (p.Asp439Asn)
|
rs149040664
|
0.00016
|
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn)
|
rs199826380
|
0.00016
|
NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=)
|
rs370414767
|
0.00016
|
NM_004281.4(BAG3):c.1588G>A (p.Val530Met)
|
rs144678100
|
0.00016
|
NM_004525.3(LRP2):c.5155G>C (p.Gly1719Arg)
|
rs144054579
|
0.00016
|
NM_005045.4(RELN):c.2376T>C (p.Gly792=)
|
rs398124191
|
0.00016
|
NM_006231.4(POLE):c.3245G>A (p.Arg1082His)
|
rs201744227
|
0.00016
|
NM_006516.4(SLC2A1):c.972+7del
|
rs531385270
|
0.00016
|
NM_007078.3(LDB3):c.690-4621A>G
|
rs370053163
|
0.00016
|
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=)
|
rs142509316
|
0.00016
|
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser)
|
rs200644351
|
0.00016
|
NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=)
|
rs115239207
|
0.00016
|
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg)
|
rs200753280
|
0.00016
|
NM_000337.6(SGCD):c.123C>G (p.Leu41=)
|
rs200670993
|
0.00015
|
NM_000371.4(TTR):c.384C>T (p.Ala128=)
|
rs143906738
|
0.00015
|
NM_001042432.2(CLN3):c.677+8G>A
|
rs368568189
|
0.00015
|
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser)
|
rs199966218
|
0.00015
|
NM_004385.5(VCAN):c.8621C>T (p.Ala2874Val)
|
rs147798761
|
0.00015
|
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala)
|
rs201433617
|
0.00015
|
NM_005422.4(TECTA):c.33C>A (p.Val11=)
|
rs140393508
|
0.00015
|
NM_006005.3(WFS1):c.2667G>A (p.Ala889=)
|
rs71526454
|
0.00015
|
NM_024422.6(DSC2):c.1521-7C>T
|
rs374810953
|
0.00015
|
NM_000548.5(TSC2):c.4493+7C>A
|
rs199943270
|
0.00014
|
NM_001035.3(RYR2):c.1476+4C>T
|
rs369442980
|
0.00014
|
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg)
|
rs367826445
|
0.00014
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)
|
rs760733415
|
0.00014
|
NM_004484.4(GPC3):c.172C>T (p.Pro58Ser)
|
rs147231796
|
0.00014
|
NM_005529.7(HSPG2):c.5891G>A (p.Arg1964Lys)
|
rs373448635
|
0.00014
|
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val)
|
rs201185279
|
0.00014
|
NM_006059.4(LAMC3):c.1688G>A (p.Arg563Gln)
|
rs150171154
|
0.00014
|
NM_015311.3(OBSL1):c.4745G>A (p.Gly1582Glu)
|
rs201690766
|
0.00014
|
NM_015570.4(AUTS2):c.2251A>C (p.Thr751Pro)
|
rs372998593
|
0.00014
|
NM_017668.3(NDE1):c.990G>A (p.Arg330=)
|
rs143588920
|
0.00014
|
NM_032977.4(CASP10):c.1297G>A (p.Glu433Lys)
|
rs200540853
|
0.00014
|
NM_033004.4(NLRP1):c.2341C>A (p.Pro781Thr)
|
rs201368394
|
0.00014
|
NM_080646.2(TBX1):c.1162G>A (p.Val388Met)
|
rs375380772
|
0.00014
|
NM_170784.3(MKKS):c.1553G>A (p.Arg518His)
|
rs149051148
|
0.00014
|
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=)
|
rs370053768
|
0.00014
|
NM_201384.3(PLEC):c.13242C>T (p.Arg4414=)
|
rs200589588
|
0.00014
|
NM_201384.3(PLEC):c.6786G>A (p.Thr2262=)
|
rs373922545
|
0.00014
|
NM_000875.5(IGF1R):c.84G>A (p.Thr28=)
|
rs372748482
|
0.00013
|
NM_001134831.2(AHI1):c.2808A>G (p.Thr936=)
|
rs373772212
|
0.00013
|
NM_001267550.2(TTN):c.10115-4G>A
|
rs367648529
|
0.00013
|
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=)
|
rs72648997
|
0.00013
|
NM_001849.4(COL6A2):c.1836C>T (p.Gly612=)
|
rs141257132
|
0.00013
|
NM_002471.4(MYH6):c.1252G>A (p.Val418Met)
|
rs147606900
|
0.00013
|
NM_002691.4(POLD1):c.371T>C (p.Val124Ala)
|
rs199993010
|
0.00013
|
NM_004380.3(CREBBP):c.4280+8T>C
|
rs376814421
|
0.00013
|
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu)
|
rs141594736
|
0.00013
|
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=)
|
rs374354239
|
0.00013
|
NM_017777.4(MKS1):c.1128G>A (p.Thr376=)
|
rs369141016
|
0.00013
|
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala)
|
rs398124317
|
0.00013
|
NM_031892.3(SH3KBP1):c.1876A>T (p.Met626Leu)
|
rs199561036
|
0.00013
|
NM_032322.4(RNF135):c.1009G>A (p.Asp337Asn)
|
rs148682566
|
0.00013
|
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=)
|
rs141263831
|
0.00013
|
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)
|
rs111033514
|
0.00013
|
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=)
|
rs368035400
|
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_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)
|
rs141133453
|
0.00012
|
NM_001737.5(C9):c.1345G>A (p.Val449Met)
|
rs374259433
|
0.00012
|
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)
|
rs146933218
|
0.00012
|
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=)
|
rs377723386
|
0.00012
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
rs56172926
|
0.00011
|
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln)
|
rs200443942
|
0.00011
|
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)
|
rs139289675
|
0.00011
|
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser)
|
rs139773438
|
0.00011
|
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile)
|
rs768385469
|
0.00011
|
NM_000153.4(GALC):c.328+6A>G
|
rs201977747
|
0.00011
|
NM_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
NM_001080414.4(CCDC88C):c.4412G>A (p.Arg1471His)
|
rs201606038
|
0.00011
|
NM_001145809.2(MYH14):c.4731C>T (p.Ser1577=)
|
rs766728732
|
0.00011
|
NM_001191061.2(SLC25A22):c.834C>T (p.His278=)
|
rs187824231
|
0.00011
|
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)
|
rs372716177
|
0.00011
|
NM_001267550.2(TTN):c.1449C>T (p.Ala483=)
|
rs141617218
|
0.00011
|
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)
|
rs370812788
|
0.00011
|
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly)
|
rs376273101
|
0.00011
|
NM_001267550.2(TTN):c.66051G>A (p.Val22017=)
|
rs587780981
|
0.00011
|
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)
|
rs72646889
|
0.00011
|
NM_001267550.2(TTN):c.93255G>A (p.Pro31085=)
|
rs372611171
|
0.00011
|
NM_001375808.2(LPIN2):c.1169-3C>T
|
rs200259086
|
0.00011
|
NM_001735.3(C5):c.2420C>T (p.Thr807Ile)
|
rs372326645
|
0.00011
|
NM_002485.5(NBN):c.1914+10G>A
|
rs577706448
|
0.00011
|
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)
|
rs192332761
|
0.00011
|
NM_003200.5(TCF3):c.1549G>C (p.Glu517Gln)
|
rs368238041
|
0.00011
|
NM_004525.3(LRP2):c.8169C>T (p.Asn2723=)
|
rs200369596
|
0.00011
|
NM_014714.4(IFT140):c.3874-10A>C
|
rs761503137
|
0.00011
|
NM_018196.4(TMLHE):c.248C>T (p.Ala83Val)
|
rs149189246
|
0.00011
|
NM_018451.5(CENPJ):c.622A>G (p.Thr208Ala)
|
rs199925549
|
0.00011
|
NM_021830.5(TWNK):c.169G>A (p.Ala57Thr)
|
rs373068264
|
0.00011
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
0.00011
|
NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=)
|
rs200241260
|
0.00011
|
NM_080425.4(GNAS):c.897C>A (p.Ser299Arg)
|
rs200409817
|
0.00011
|
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser)
|
rs370354759
|
0.00010
|
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)
|
rs368980118
|
0.00010
|
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val)
|
rs374244026
|
0.00010
|
NM_000562.3(C8A):c.1657G>A (p.Ala553Thr)
|
rs375719279
|
0.00010
|
NM_001081.4(CUBN):c.3746G>A (p.Arg1249His)
|
rs151039810
|
0.00010
|
NM_001105206.3(LAMA4):c.1390C>G (p.His464Asp)
|
rs151119304
|
0.00010
|
NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=)
|
rs199887745
|
0.00010
|
NM_001195305.3(BBIP1):c.233G>A (p.Arg78His)
|
rs532149239
|
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.63917G>A (p.Arg21306His)
|
rs202240487
|
0.00010
|
NM_001267550.2(TTN):c.93981C>G (p.Val31327=)
|
rs370894846
|
0.00010
|
NM_003036.4(SKI):c.2141G>A (p.Arg714His)
|
rs754486257
|
0.00010
|
NM_003105.6(SORL1):c.5023C>T (p.Pro1675Ser)
|
rs200758028
|
0.00010
|
NM_004006.3(DMD):c.3432+10A>G
|
rs746260475
|
0.00010
|
NM_005045.4(RELN):c.5274G>T (p.Ala1758=)
|
rs139102992
|
0.00010
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
NM_005548.3(KARS1):c.222+10C>T
|
rs374496494
|
0.00010
|
NM_017777.4(MKS1):c.1435C>T (p.Arg479Cys)
|
rs769442220
|
0.00010
|
NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro)
|
rs139714761
|
0.00010
|
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=)
|
rs199848479
|
0.00010
|
NM_031433.4(MFRP):c.1256-4G>A
|
rs142533439
|
0.00010
|
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala)
|
rs376945733
|
0.00010
|
NM_053025.4(MYLK):c.1133G>A (p.Arg378His)
|
rs56378658
|
0.00010
|
NM_080680.3(COL11A2):c.5071-7C>G
|
rs200548977
|
0.00010
|
NM_144498.4(OSBPL2):c.128G>T (p.Arg43Met)
|
rs143116125
|
0.00010
|
NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly)
|
rs199924281
|
0.00009
|
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)
|
rs80358572
|
0.00009
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
NM_000169.3(GLA):c.945C>T (p.Asp315=)
|
rs151208856
|
0.00009
|
NM_000245.4(MET):c.2318C>T (p.Pro773Leu)
|
rs771333219
|
0.00009
|
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=)
|
rs751225159
|
0.00009
|
NM_001077365.2(POMT1):c.1149C>T (p.His383=)
|
rs202121299
|
0.00009
|
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys)
|
rs782557713
|
0.00009
|
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=)
|
rs375022009
|
0.00009
|
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr)
|
rs369342933
|
0.00009
|
NM_001288705.3(CSF1R):c.2554+3G>A
|
rs377388187
|
0.00009
|
NM_001368894.2(PAX6):c.465C>G (p.Gly155=)
|
rs139803630
|
0.00009
|
NM_001378477.3(NYX):c.796C>T (p.Arg266Cys)
|
rs369077278
|
0.00009
|
NM_001378615.1(CC2D2A):c.1766G>A (p.Arg589Lys)
|
rs763477416
|
0.00009
|
NM_001386140.1(MTTP):c.130C>G (p.Leu44Val)
|
rs779068565
|
0.00009
|
NM_001551.3(IGBP1):c.536T>C (p.Val179Ala)
|
rs368773089
|
0.00009
|
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp)
|
rs144421849
|
0.00009
|
NM_002878.4(RAD51D):c.196G>A (p.Val66Met)
|
rs56026142
|
0.00009
|
NM_012388.4(BLOC1S6):c.294G>T (p.Met98Ile)
|
rs574333116
|
0.00009
|
NM_015915.5(ATL1):c.322A>G (p.Thr108Ala)
|
rs112496709
|
0.00009
|
NM_017777.4(MKS1):c.516-10T>C
|
rs375046501
|
0.00009
|
NM_033100.4(CDHR1):c.784-3G>A
|
rs201384219
|
0.00009
|
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)
|
rs587780256
|
0.00009
|
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr)
|
rs80356462
|
0.00009
|
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val)
|
rs781878105
|
0.00009
|
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys)
|
rs55996097
|
0.00008
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000195.5(HPS1):c.778C>T (p.Arg260Trp)
|
rs564590745
|
0.00008
|
NM_000377.3(WAS):c.264C>T (p.Tyr88=)
|
rs150520117
|
0.00008
|
NM_000527.5(LDLR):c.1503G>A (p.Ala501=)
|
rs368889457
|
0.00008
|
NM_000540.3(RYR1):c.13190C>G (p.Ala4397Gly)
|
rs1057520588
|
0.00008
|
NM_001130823.3(DNMT1):c.919A>G (p.Lys307Glu)
|
rs148831705
|
0.00008
|
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)
|
rs187423999
|
0.00008
|
NM_001267550.2(TTN):c.31071C>T (p.His10357=)
|
rs368973334
|
0.00008
|
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr)
|
rs532102837
|
0.00008
|
NM_003036.4(SKI):c.1109T>C (p.Val370Ala)
|
rs138088528
|
0.00008
|
NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=)
|
rs587781011
|
0.00008
|
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser)
|
rs59183158
|
0.00008
|
NM_012079.6(DGAT1):c.713C>T (p.Pro238Leu)
|
rs373467033
|
0.00008
|
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=)
|
rs372430727
|
0.00008
|
NM_015102.5(NPHP4):c.2952G>A (p.Thr984=)
|
rs375493384
|
0.00008
|
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val)
|
rs746864807
|
0.00008
|
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val)
|
rs755925068
|
0.00007
|
NM_000458.4(HNF1B):c.*22G>A
|
rs200421746
|
0.00007
|
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=)
|
rs541125667
|
0.00007
|
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=)
|
rs183047238
|
0.00007
|
NM_001276345.2(TNNT2):c.52+7G>A
|
rs374443596
|
0.00007
|
NM_004006.3(DMD):c.9093C>T (p.Val3031=)
|
rs72466563
|
0.00007
|
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)
|
rs376097289
|
0.00007
|
NM_006005.3(WFS1):c.343G>A (p.Gly115Ser)
|
rs780727054
|
0.00007
|
NM_006005.3(WFS1):c.726C>T (p.Ile242=)
|
rs71524381
|
0.00007
|
NM_015102.5(NPHP4):c.2902G>A (p.Ala968Thr)
|
rs375090704
|
0.00007
|
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=)
|
rs146567226
|
0.00007
|
NM_000038.6(APC):c.7888G>A (p.Val2630Ile)
|
rs199688874
|
0.00006
|
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=)
|
rs41293473
|
0.00006
|
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg)
|
rs80358935
|
0.00006
|
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)
|
rs28897705
|
0.00006
|
NM_000071.3(CBS):c.737-10C>T
|
rs546751042
|
0.00006
|
NM_000138.5(FBN1):c.7204+7C>G
|
rs371763964
|
0.00006
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00006
|
NM_000335.5(SCN5A):c.393-5C>A
|
rs368678204
|
0.00006
|
NM_000360.4(TH):c.104T>C (p.Ile35Thr)
|
rs747420332
|
0.00006
|
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)
|
rs118203553
|
0.00006
|
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His)
|
rs45517392
|
0.00006
|
NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr)
|
rs144123257
|
0.00006
|
NM_001127255.2(NLRP7):c.531C>T (p.His177=)
|
rs746150420
|
0.00006
|
NM_001130144.3(LTBP3):c.1645C>G (p.Pro549Ala)
|
rs145060640
|
0.00006
|
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln)
|
rs149391616
|
0.00006
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_001267550.2(TTN):c.89520C>T (p.Asp29840=)
|
rs746569192
|
0.00006
|
NM_001276345.2(TNNT2):c.601-8C>T
|
rs397516475
|
0.00006
|
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg)
|
rs534635095
|
0.00006
|
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg)
|
rs541223359
|
0.00006
|
NM_003482.4(KMT2D):c.4392C>A (p.Val1464=)
|
rs758265897
|
0.00006
|
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=)
|
rs143063879
|
0.00006
|
NM_004736.4(XPR1):c.2009G>A (p.Arg670His)
|
rs142675657
|
0.00006
|
NM_005529.7(HSPG2):c.8776C>A (p.Pro2926Thr)
|
rs370487132
|
0.00006
|
NM_007194.4(CHEK2):c.1260-10C>G
|
rs730881706
|
0.00006
|
NM_007294.4(BRCA1):c.2522G>A (p.Arg841Gln)
|
rs80357337
|
0.00006
|
NM_007294.4(BRCA1):c.5278-14C>G
|
rs80358105
|
0.00006
|
NM_017882.3(CLN6):c.199-5C>T
|
rs371705916
|
0.00006
|
NM_018723.4(RBFOX1):c.1050C>A (p.Pro350=)
|
rs141919506
|
0.00006
|
NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val)
|
rs376701259
|
0.00006
|
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)
|
rs80358932
|
0.00005
|
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn)
|
rs80359051
|
0.00005
|
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=)
|
rs745743884
|
0.00005
|
NM_000117.3(EMD):c.525C>T (p.Ser175=)
|
rs782367505
|
0.00005
|
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=)
|
rs201572666
|
0.00005
|
NM_000466.3(PEX1):c.147G>A (p.Val49=)
|
rs202230667
|
0.00005
|
NM_001244008.2(KIF1A):c.1949+7C>T
|
rs555750413
|
0.00005
|
NM_001267550.2(TTN):c.3030C>T (p.Ser1010=)
|
rs374346637
|
0.00005
|
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile)
|
rs190574498
|
0.00005
|
NM_001291303.3(FAT4):c.9163C>A (p.Gln3055Lys)
|
rs199778782
|
0.00005
|
NM_001378454.1(ALMS1):c.11792A>G (p.Glu3931Gly)
|
rs776808559
|
0.00005
|
NM_001851.6(COL9A1):c.166+5G>A
|
rs544432669
|
0.00005
|
NM_006516.4(SLC2A1):c.276-8G>A
|
rs373084446
|
0.00005
|
NM_007078.3(LDB3):c.992C>T (p.Ala331Val)
|
rs368053281
|
0.00005
|
NM_007186.6(CEP250):c.3629C>T (p.Ala1210Val)
|
rs199592435
|
0.00005
|
NM_024411.5(PDYN):c.74G>A (p.Arg25Gln)
|
rs369559888
|
0.00005
|
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr)
|
rs552813440
|
0.00005
|
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala)
|
rs781900720
|
0.00004
|
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)
|
rs138137162
|
0.00004
|
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys)
|
rs80358842
|
0.00004
|
NM_000428.3(LTBP2):c.3883A>G (p.Met1295Val)
|
rs776746432
|
0.00004
|
NM_000535.7(PMS2):c.*17G>C
|
rs556089649
|
0.00004
|
NM_001267550.2(TTN):c.106858G>A (p.Glu35620Lys)
|
rs377593605
|
0.00004
|
NM_001267550.2(TTN):c.11066T>C (p.Ile3689Thr)
|
rs527924868
|
0.00004
|
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=)
|
rs372654116
|
0.00004
|
NM_001267550.2(TTN):c.62097A>G (p.Pro20699=)
|
rs774995592
|
0.00004
|
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=)
|
rs377220635
|
0.00004
|
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=)
|
rs375565646
|
0.00004
|
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)
|
rs367979582
|
0.00004
|
NM_001330588.2(TPP2):c.495+4G>C
|
rs376579048
|
0.00004
|
NM_001368397.1(FRMPD4):c.2048A>G (p.Glu683Gly)
|
rs760597864
|
0.00004
|
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)
|
rs367982631
|
0.00004
|
NM_002294.3(LAMP2):c.929-5T>C
|
rs375341409
|
0.00004
|
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln)
|
rs768577891
|
0.00004
|
NM_007078.3(LDB3):c.689+3861C>T
|
rs754704023
|
0.00004
|
NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser)
|
rs745571457
|
0.00004
|
NM_012186.3(FOXE3):c.703C>T (p.Pro235Ser)
|
rs112802909
|
0.00004
|
NM_015102.5(NPHP4):c.1764-5C>T
|
rs370899989
|
0.00004
|
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg)
|
rs761602495
|
0.00004
|
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=)
|
rs554737227
|
0.00004
|
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=)
|
rs528130317
|
0.00004
|
NM_020919.4(ALS2):c.886G>A (p.Ala296Thr)
|
rs765049503
|
0.00004
|
NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile)
|
rs200839584
|
0.00004
|
NM_024334.3(TMEM43):c.121A>G (p.Met41Val)
|
rs144334386
|
0.00004
|
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)
|
rs780389237
|
0.00004
|
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr)
|
rs200218585
|
0.00004
|
NM_032119.4(ADGRV1):c.16313C>T (p.Thr5438Ile)
|
rs745477465
|
0.00004
|
NM_033337.3(CAV3):c.201C>A (p.Val67=)
|
rs201593267
|
0.00004
|
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile)
|
rs375937729
|
0.00004
|
NM_000051.4(ATM):c.1661C>T (p.Thr554Met)
|
rs1060501694
|
0.00003
|
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn)
|
rs80359056
|
0.00003
|
NM_000064.4(C3):c.4520G>A (p.Arg1507His)
|
rs551187980
|
0.00003
|
NM_000288.4(PEX7):c.576C>T (p.Ile192=)
|
rs776411851
|
0.00003
|
NM_000384.3(APOB):c.571A>G (p.Thr191Ala)
|
rs1318040190
|
0.00003
|
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys)
|
rs747140161
|
0.00003
|
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=)
|
rs200060245
|
0.00003
|
NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr)
|
rs189345192
|
0.00003
|
NM_001065.4(TNFRSF1A):c.1038C>G (p.His346Gln)
|
rs201994938
|
0.00003
|
NM_001171.6(ABCC6):c.179G>A (p.Arg60Gln)
|
rs183648123
|
0.00003
|
NM_001242896.3(DEPDC5):c.2010C>A (p.His670Gln)
|
rs752274547
|
0.00003
|
NM_001267550.2(TTN):c.1398+5G>A
|
rs542965530
|
0.00003
|
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys)
|
rs397517502
|
0.00003
|
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys)
|
rs200325324
|
0.00003
|
NM_001844.5(COL2A1):c.2302-3C>T
|
rs895256869
|
0.00003
|
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn)
|
rs370509593
|
0.00003
|
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met)
|
rs727504783
|
0.00003
|
NM_002471.4(MYH6):c.3860-15T>G
|
rs200883903
|
0.00003
|
NM_003042.4(SLC6A1):c.582G>A (p.Glu194=)
|
rs372085480
|
0.00003
|
NM_014874.4(MFN2):c.119A>G (p.Asn40Ser)
|
rs1354203259
|
0.00003
|
NM_016247.4(IMPG2):c.2531G>A (p.Arg844Gln)
|
rs139105788
|
0.00003
|
NM_017617.5(NOTCH1):c.3510+3G>A
|
rs372739350
|
0.00003
|
NM_019066.5(MAGEL2):c.1894G>A (p.Ala632Thr)
|
rs777626175
|
0.00003
|
NM_033305.3(VPS13A):c.9176A>G (p.Asn3059Ser)
|
rs768641511
|
0.00003
|
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala)
|
rs112749780
|
0.00003
|
NM_182961.4(SYNE1):c.12930C>T (p.Asp4310=)
|
rs760209358
|
0.00003
|
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=)
|
rs143118084
|
0.00003
|
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro)
|
rs571694324
|
0.00003
|
NM_213599.3(ANO5):c.1689T>C (p.Phe563=)
|
rs527322470
|
0.00003
|
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile)
|
rs587779838
|
0.00002
|
NM_000057.4(BLM):c.395G>A (p.Arg132Gln)
|
rs775197136
|
0.00002
|
NM_000059.4(BRCA2):c.708T>C (p.His236=)
|
rs185506536
|
0.00002
|
NM_000059.4(BRCA2):c.794-11T>C
|
rs81002822
|
0.00002
|
NM_000059.4(BRCA2):c.8111C>T (p.Ser2704Phe)
|
rs80359054
|
0.00002
|
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)
|
rs397515929
|
0.00002
|
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)
|
rs150241539
|
0.00002
|
NM_000335.5(SCN5A):c.2039G>A (p.Arg680His)
|
rs199473142
|
0.00002
|
NM_000531.6(OTC):c.76C>T (p.Arg26Trp)
|
rs1057515879
|
0.00002
|
NM_001142864.4(PIEZO1):c.7091A>G (p.Asn2364Ser)
|
rs1013412353
|
0.00002
|
NM_001197104.2(KMT2A):c.10418G>A (p.Arg3473His)
|
rs782670360
|
0.00002
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=)
|
rs398124450
|
0.00002
|
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)
|
rs371514555
|
0.00002
|
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=)
|
rs746956869
|
0.00002
|
NM_001267550.2(TTN):c.79545C>T (p.Gly26515=)
|
rs761713195
|
0.00002
|
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met)
|
rs377506142
|
0.00002
|
NM_001308093.3(GATA4):c.1070G>T (p.Ser357Ile)
|
rs1014543362
|
0.00002
|
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile)
|
rs370918918
|
0.00002
|
NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile)
|
rs578128759
|
0.00002
|
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser)
|
rs201835072
|
0.00002
|
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile)
|
rs397516953
|
0.00002
|
NM_005559.4(LAMA1):c.8314C>T (p.Arg2772Cys)
|
rs760542877
|
0.00002
|
NM_006031.6(PCNT):c.4108C>T (p.Arg1370Trp)
|
rs751846963
|
0.00002
|
NM_006343.3(MERTK):c.1340G>A (p.Arg447Gln)
|
rs753693755
|
0.00002
|
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys)
|
rs76475298
|
0.00002
|
NM_015102.5(NPHP4):c.578C>T (p.Pro193Leu)
|
rs779760001
|
0.00002
|
NM_025137.4(SPG11):c.176C>T (p.Ala59Val)
|
rs552320263
|
0.00002
|
NM_032119.4(ADGRV1):c.14931A>G (p.Leu4977=)
|
rs760841840
|
0.00002
|
NM_033056.4(PCDH15):c.4717C>G (p.Leu1573Val)
|
rs202010562
|
0.00002
|
NM_144670.6(A2ML1):c.1438G>A (p.Asp480Asn)
|
rs368024371
|
0.00002
|
NM_178012.5(TUBB2B):c.57+4G>A
|
rs767477213
|
0.00002
|
NM_000038.6(APC):c.6403A>G (p.Ile2135Val)
|
rs757633174
|
0.00001
|
NM_000051.4(ATM):c.1634C>T (p.Ala545Val)
|
rs878853485
|
0.00001
|
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His)
|
rs587781320
|
0.00001
|
NM_000059.4(BRCA2):c.10085T>C (p.Phe3362Ser)
|
rs756978580
|
0.00001
|
NM_000059.4(BRCA2):c.1342C>T (p.Arg448Cys)
|
rs80358422
|
0.00001
|
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His)
|
rs80358423
|
0.00001
|
NM_000059.4(BRCA2):c.4901T>C (p.Phe1634Ser)
|
rs80358715
|
0.00001
|
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=)
|
rs80359791
|
0.00001
|
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)
|
rs80359800
|
0.00001
|
NM_000059.4(BRCA2):c.8103T>G (p.Ser2701=)
|
rs80359801
|
0.00001
|
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)
|
rs80359127
|
0.00001
|
NM_000059.4(BRCA2):c.927A>G (p.Ser309=)
|
rs80359806
|
0.00001
|
NM_000179.3(MSH6):c.208A>G (p.Lys70Glu)
|
rs863224621
|
0.00001
|
NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=)
|
rs780761880
|
0.00001
|
NM_000533.5(PLP1):c.696+8G>T
|
rs902326390
|
0.00001
|
NM_000535.7(PMS2):c.354C>T (p.Ser118=)
|
rs760615315
|
0.00001
|
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser)
|
rs781993685
|
0.00001
|
NM_001128840.3(CACNA1D):c.2562G>A (p.Lys854=)
|
rs1332817040
|
0.00001
|
NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val)
|
rs1266240114
|
0.00001
|
NM_001267550.2(TTN):c.107254C>T (p.Arg35752Cys)
|
rs528535076
|
0.00001
|
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met)
|
rs397517825
|
0.00001
|
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=)
|
rs772600691
|
0.00001
|
NM_001267550.2(TTN):c.40408+7_40408+10dup
|
rs397517560
|
0.00001
|
NM_001267550.2(TTN):c.47258G>A (p.Arg15753Lys)
|
rs577133803
|
0.00001
|
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr)
|
rs397517599
|
0.00001
|
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)
|
rs397517612
|
0.00001
|
NM_001270508.2(TNFAIP3):c.2269C>A (p.Pro757Thr)
|
rs771436999
|
0.00001
|
NM_001377265.1(MAPT):c.220+2538C>G
|
rs368845248
|
0.00001
|
NM_001379500.1(COL18A1):c.3380G>A (p.Arg1127His)
|
rs370102608
|
0.00001
|
NM_001384732.1(CPLANE1):c.9310+6A>T
|
rs1347208910
|
0.00001
|
NM_001386140.1(MTTP):c.1877G>A (p.Arg626His)
|
rs568076672
|
0.00001
|
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr)
|
rs576221121
|
0.00001
|
NM_001851.6(COL9A1):c.1926+6T>G
|
rs372289111
|
0.00001
|
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=)
|
rs1135057
|
0.00001
|
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu)
|
rs781636798
|
0.00001
|
NM_004281.4(BAG3):c.1651C>A (p.Gln551Lys)
|
rs577455773
|
0.00001
|
NM_004415.4(DSP):c.2666G>A (p.Arg889Lys)
|
rs762341335
|
0.00001
|
NM_005120.3(MED12):c.3797G>A (p.Arg1266His)
|
rs587780391
|
0.00001
|
NM_005477.3(HCN4):c.1459G>A (p.Val487Met)
|
rs202037304
|
0.00001
|
NM_005477.3(HCN4):c.2055C>T (p.Ser685=)
|
rs886042819
|
0.00001
|
NM_006015.6(ARID1A):c.3702C>T (p.Gly1234=)
|
rs376672377
|
0.00001
|
NM_006950.3(SYN1):c.364C>T (p.Pro122Ser)
|
rs774818779
|
0.00001
|
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu)
|
rs876660005
|
0.00001
|
NM_007294.4(BRCA1):c.4314C>G (p.Ala1438=)
|
rs80356856
|
0.00001
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00001
|
NM_015450.3(POT1):c.916A>G (p.Ile306Val)
|
rs1415345156
|
0.00001
|
NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val)
|
rs573554562
|
0.00001
|
NM_032119.4(ADGRV1):c.2759G>A (p.Arg920Gln)
|
rs766225545
|
0.00001
|
NM_144670.6(A2ML1):c.2006C>T (p.Thr669Met)
|
rs745912214
|
0.00001
|
NM_213599.3(ANO5):c.185A>G (p.Gln62Arg)
|
rs754497228
|
0.00001
|
NM_000051.4(ATM):c.2723T>C (p.Val908Ala)
|
rs754738085
|
|
NM_000059.4(BRCA2):c.1355T>C (p.Leu452Pro)
|
rs753512842
|
|
NM_000059.4(BRCA2):c.1483G>A (p.Ala495Thr)
|
rs80358437
|
|
NM_000059.4(BRCA2):c.1816C>T (p.Pro606Ser)
|
rs765924757
|
|
NM_000059.4(BRCA2):c.2125C>G (p.Leu709Val)
|
rs80358489
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)
|
rs80358507
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr)
|
rs80358646
|
|
NM_000059.4(BRCA2):c.516+17G>T
|
rs765435155
|
|
NM_000059.4(BRCA2):c.5411T>C (p.Val1804Ala)
|
rs370252983
|
|
NM_000059.4(BRCA2):c.5763T>G (p.Phe1921Leu)
|
rs730881540
|
|
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)
|
rs56191579
|
|
NM_000059.4(BRCA2):c.6448A>C (p.Lys2150Gln)
|
rs1403648108
|
|
NM_000064.4(C3):c.4350+6G>C
|
rs369993135
|
|
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=)
|
rs777361888
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
NM_000117.3(EMD):c.466G>C (p.Gly156Arg)
|
rs144594695
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
NM_000249.4(MLH1):c.*32CTT[1]
|
rs193922366
|
|
NM_000260.4(MYO7A):c.5494C>A (p.Arg1832=)
|
rs748080151
|
|
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu)
|
rs143494325
|
|
NM_000264.5(PTCH1):c.113G>T (p.Gly38Val)
|
rs143494325
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000314.8(PTEN):c.79+7A>T
|
rs374331677
|
|
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=)
|
rs61751379
|
|
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
|
|
|
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
|
|
|
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
|
|
|
NM_000400.4(ERCC2):c.2189G>A (p.Arg730Gln)
|
rs759412116
|
|
NM_000426.4(LAMA2):c.4222C>G (p.Arg1408Gly)
|
rs780127363
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000540.3(RYR1):c.2501G>A (p.Arg834Gln)
|
rs1314923827
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000552.5(VWF):c.1110-6dup
|
rs534403271
|
|
NM_000574.5(CD55):c.155G>C (p.Arg52Pro)
|
rs28371588
|
|
NM_000733.4(CD3E):c.211G>C (p.Asp71His)
|
rs148647954
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del)
|
rs771434359
|
|
NM_001018115.3(FANCD2):c.2022-5C>T
|
rs4019784
|
|
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del)
|
rs746535151
|
|
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del)
|
rs750710267
|
|
NM_001105206.3(LAMA4):c.4255T>G (p.Leu1419Val)
|
rs782225670
|
|
NM_001130144.3(LTBP3):c.76CTG[13] (p.Leu33_Leu35dup)
|
rs71036212
|
|
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=)
|
rs72758823
|
|
NM_001134363.3(RBM20):c.1880+4_1880+6dup
|
rs397516597
|
|
NM_001142864.4(PIEZO1):c.4969C>T (p.Pro1657Ser)
|
rs763940836
|
|
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)
|
rs397516641
|
|
NM_001244008.2(KIF1A):c.2493G>T (p.Val831=)
|
rs201861261
|
|
NM_001244008.2(KIF1A):c.720+5G>C
|
rs377502239
|
|
NM_001261826.3(AP3D1):c.2587GAGAAG[1] (p.863EK[1])
|
rs756601658
|
|
NM_001261826.3(AP3D1):c.3400A>C (p.Ile1134Leu)
|
rs25673
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys)
|
rs201857158
|
|
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
|
rs149523263
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5])
|
rs397517548
|
|
NM_001267550.2(TTN):c.49814T>G (p.Val16605Gly)
|
rs781195013
|
|
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)
|
rs144135510
|
|
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val)
|
rs370687831
|
|
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu)
|
rs141142920
|
|
NM_001267550.2(TTN):c.65187G>A (p.Glu21729=)
|
rs397517660
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr)
|
rs202020443
|
|
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp)
|
rs117500243
|
|
NM_001364905.1(LRBA):c.114G>T (p.Gly38=)
|
rs72721739
|
|
NM_001365276.2(TNXB):c.3763C>G (p.Arg1255Gly)
|
rs376472382
|
|
NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile)
|
rs140304758
|
|
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=)
|
rs184374078
|
|
NM_001374828.1(ARID1B):c.1303GGC[5] (p.Gly440del)
|
rs797045268
|
|
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del)
|
rs369050575
|
|
NM_001379500.1(COL18A1):c.107-12195G>A
|
rs62000960
|
|
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)
|
rs45483395
|
|
NM_001386140.1(MTTP):c.854C>T (p.Thr285Met)
|
rs566965111
|
|
NM_001543.5(NDST1):c.1749+8dup
|
rs528143978
|
|
NM_001563.4(IMPG1):c.1930T>G (p.Ser644Ala)
|
rs1781946410
|
|
NM_001643.2(APOA2):c.53-43TG[21]
|
rs17244502
|
|
NM_001849.4(COL6A2):c.2748C>A (p.His916Gln)
|
rs372206114
|
|
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala)
|
rs778884735
|
|
NM_002133.3(HMOX1):c.709C>G (p.Arg237Gly)
|
rs145427664
|
|
NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu)
|
rs139069413
|
|
NM_002471.4(MYH6):c.3343-3del
|
rs1027186100
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup)
|
rs748325646
|
|
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr)
|
rs143711798
|
|
NM_004006.3(DMD):c.*23_*35del
|
rs752332058
|
|
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=)
|
rs35353912
|
|
NM_004260.4(RECQL4):c.213+6del
|
rs535285068
|
|
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln)
|
rs34666647
|
|
NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys)
|
rs160278
|
|
NM_005045.4(RELN):c.5211-7dup
|
rs34125550
|
|
NM_005045.4(RELN):c.5211-8_5211-7dup
|
rs34125550
|
|
NM_005159.5(ACTC1):c.809-58TG[24]
|
rs59431308
|
|
NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup)
|
rs373212940
|
|
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)
|
rs121909305
|
|
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)
|
rs113652076
|
|
NM_005529.7(HSPG2):c.3707C>T (p.Ala1236Val)
|
rs113652076
|
|
NM_005633.4(SOS1):c.1977T>A (p.Asp659Glu)
|
rs1362181978
|
|
NM_006005.3(WFS1):c.1333C>G (p.Leu445Val)
|
rs764932308
|
|
NM_006005.3(WFS1):c.47C>T (p.Pro16Leu)
|
rs34653805
|
|
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_006079.5(CITED2):c.114CCA[1] (p.His39del)
|
rs749590293
|
|
NM_006204.4(PDE6C):c.252G>T (p.Leu84=)
|
rs1131978
|
|
NM_006208.3(ENPP1):c.313+9GT[20]
|
rs59956343
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu)
|
rs146275785
|
|
NM_006516.4(SLC2A1):c.679+4C>T
|
rs139492241
|
|
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=)
|
rs143407309
|
|
NM_006790.3(MYOT):c.1401T>C (p.Asn467=)
|
rs145427063
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007294.4(BRCA1):c.3071G>A (p.Ser1024Asn)
|
rs757579891
|
|
NM_007294.4(BRCA1):c.3952A>G (p.Ile1318Val)
|
rs397509121
|
|
NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser)
|
rs80357078
|
|
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)
|
rs143509747
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014000.3(VCL):c.622+4C>G
|
rs201020802
|
|
NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=)
|
rs144934076
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
NM_014956.5(CEP164):c.380C>A (p.Pro127His)
|
rs143659874
|
|
NM_015662.3(IFT172):c.1525-6C>G
|
rs201231401
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp)
|
rs372215131
|
|
NM_017827.4(SARS2):c.1530_1538dup (p.Leu511_Gly513dup)
|
rs551671819
|
|
NM_017838.4(NHP2):c.160+10A>T
|
rs376220034
|
|
NM_019109.5(ALG1):c.1292C>A (p.Ala431Glu)
|
rs370439294
|
|
NM_020778.5(ALPK3):c.3682C>T (p.Arg1228Trp)
|
rs537104966
|
|
NM_020778.5(ALPK3):c.423-19del
|
rs537375112
|
|
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)
|
rs142607078
|
|
NM_021728.4(OTX2):c.444G>C (p.Pro148=)
|
rs147896150
|
|
NM_021942.6(TRAPPC11):c.2628+10del
|
rs150593522
|
|
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=)
|
rs61749654
|
|
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=)
|
rs4021006
|
|
NM_024649.5(BBS1):c.316C>G (p.Leu106Val)
|
rs137853913
|
|
NM_025132.4(WDR19):c.553C>G (p.Gln185Glu)
|
rs769602871
|
|
NM_030787.4(CFHR5):c.206G>A (p.Arg69His)
|
rs375843181
|
|
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)
|
rs397517462
|
|
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu)
|
rs368390254
|
|
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup)
|
rs398124508
|
|
NM_139058.3(ARX):c.596C>G (p.Thr199Arg)
|
rs1268774120
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=)
|
rs104895570
|
|
NM_144687.4(NLRP12):c.2927+4_2927+5dup
|
rs763190690
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)
|
rs4240659
|
|
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)
|
rs1585963467
|
|
NM_182943.3(PLOD2):c.306T>A (p.Asp102Glu)
|
rs764056697
|
|
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)
|
rs146789107
|
|
NM_182961.4(SYNE1):c.9904A>G (p.Met3302Val)
|
rs1171056771
|
|
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=)
|
rs185022156
|
|
NM_201384.3(PLEC):c.13479G>A (p.Ser4493=)
|
rs781929758
|
|
NM_201384.3(PLEC):c.1418+10G>C
|
rs782571969
|
|
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu)
|
rs138959688
|
|
NR_178195.1(LFNG):n.265_268GATG[8]
|
rs34637446
|
|
Single allele
|
rs200202883
|
|