NM_003126.4(SPTA1):c.6531-12C>T
|
rs28525570
|
0.25447
|
NM_000041.4(APOE):c.388T>C (p.Cys130Arg)
|
rs429358
|
0.16059
|
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly)
|
rs3729856
|
0.09064
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_005105.5(RBM8A):c.*6C>G
|
rs12079762
|
0.04454
|
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)
|
rs34526199
|
0.02732
|
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)
|
rs1801248
|
0.02598
|
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly)
|
rs72550870
|
0.02284
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)
|
rs268
|
0.01327
|
NM_002386.4(MC1R):c.880G>C (p.Asp294His)
|
rs1805009
|
0.01121
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)
|
rs200988634
|
0.00927
|
NM_000552.5(VWF):c.4196G>A (p.Arg1399His)
|
rs1800382
|
0.00907
|
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met)
|
rs34741387
|
0.00817
|
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
|
rs17107315
|
0.00797
|
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)
|
rs17089782
|
0.00771
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)
|
rs74653330
|
0.00630
|
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)
|
rs144080386
|
0.00620
|
NM_001267550.2(TTN):c.30683-2A>T
|
rs886043892
|
0.00604
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
NM_000350.3(ABCA4):c.4253+43G>A
|
rs61754045
|
0.00486
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln)
|
rs141893504
|
0.00428
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)
|
rs61730509
|
0.00389
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)
|
rs139548132
|
0.00360
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln)
|
rs75398746
|
0.00354
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_025152.3(NUBPL):c.815-27T>C
|
rs118161496
|
0.00348
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)
|
rs34819316
|
0.00334
|
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val)
|
rs28933390
|
0.00310
|
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
|
rs114973968
|
0.00309
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met)
|
rs113298164
|
0.00299
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)
|
rs73015965
|
0.00282
|
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)
|
rs2904551
|
0.00282
|
NM_033337.3(CAV3):c.-37G>A
|
rs116840771
|
0.00282
|
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)
|
rs62646862
|
0.00276
|
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
|
rs6054
|
0.00275
|
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)
|
rs148525155
|
0.00274
|
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)
|
rs72648994
|
0.00274
|
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met)
|
rs35960726
|
0.00270
|
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)
|
rs41282065
|
0.00267
|
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)
|
rs144478519
|
0.00264
|
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)
|
rs201342438
|
0.00263
|
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)
|
rs6161
|
0.00262
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00255
|
NM_000055.4(BCHE):c.635C>T (p.Ala212Val)
|
rs114706984
|
0.00254
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)
|
rs35365413
|
0.00248
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_000065.5(C6):c.2381+2T>C
|
rs76202909
|
0.00242
|
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)
|
rs61738009
|
0.00239
|
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)
|
rs79389353
|
0.00238
|
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)
|
rs143777403
|
0.00238
|
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser)
|
rs138754417
|
0.00237
|
NM_000441.2(SLC26A4):c.*239C>T
|
rs113516368
|
0.00237
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_001756.4(SERPINA6):c.344T>A (p.Leu115His)
|
rs113418909
|
0.00236
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr)
|
rs202049257
|
0.00229
|
NM_001081.4(CUBN):c.6125-2A>G
|
rs75386064
|
0.00226
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe)
|
rs72653756
|
0.00214
|
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)
|
rs76024428
|
0.00212
|
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs)
|
rs565866662
|
0.00212
|
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)
|
rs28929470
|
0.00211
|
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp)
|
rs35859650
|
0.00208
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)
|
rs61752842
|
0.00208
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_001358263.1(HK1):c.75+20082A>G
|
rs187500777
|
0.00198
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)
|
rs61749455
|
0.00194
|
NM_007272.3(CTRC):c.640-12G>A
|
rs183053579
|
0.00194
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile)
|
rs61730849
|
0.00180
|
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)
|
rs61754024
|
0.00178
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe)
|
rs2920791
|
0.00174
|
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
|
rs2227624
|
0.00171
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)
|
rs121434346
|
0.00168
|
NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis)
|
rs566116760
|
0.00167
|
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)
|
rs201580493
|
0.00166
|
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)
|
rs200473652
|
0.00163
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00155
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00154
|
NM_001486.4(GCKR):c.307G>A (p.Val103Met)
|
rs146175795
|
0.00151
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_001486.4(GCKR):c.1135dup (p.Thr379fs)
|
rs573498430
|
0.00149
|
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr)
|
rs121908326
|
0.00147
|
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)
|
rs77820367
|
0.00146
|
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly)
|
rs145404396
|
0.00140
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_000044.6(AR):c.2395C>G (p.Gln799Glu)
|
rs137852591
|
0.00137
|
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)
|
rs143343508
|
0.00135
|
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)
|
rs1762111
|
0.00132
|
NM_001041.4(SI):c.1730T>G (p.Val577Gly)
|
rs121912615
|
0.00131
|
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu)
|
rs547116063
|
0.00131
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)
|
rs142553916
|
0.00131
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)
|
rs55972547
|
0.00129
|
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00129
|
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)
|
rs145693546
|
0.00129
|
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)
|
rs35201073
|
0.00128
|
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)
|
rs77358650
|
0.00127
|
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00126
|
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)
|
rs137868995
|
0.00125
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)
|
rs35993949
|
0.00121
|
NM_001849.4(COL6A2):c.1970-3C>A
|
rs201879417
|
0.00118
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)
|
rs140179844
|
0.00117
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
NM_001807.6(CEL):c.2172del (p.Val725fs)
|
rs780419796
|
0.00115
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)
|
rs11568514
|
0.00114
|
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys)
|
rs116998555
|
0.00113
|
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser)
|
rs121909548
|
0.00112
|
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val)
|
rs138287857
|
0.00112
|
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter)
|
rs147398904
|
0.00111
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
|
rs72648930
|
0.00109
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs)
|
rs771427543
|
0.00106
|
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val)
|
rs137853026
|
0.00105
|
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn)
|
rs139188673
|
0.00105
|
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu)
|
rs1064422
|
0.00104
|
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)
|
rs147021911
|
0.00104
|
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)
|
rs138994150
|
0.00103
|
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val)
|
rs141542003
|
0.00103
|
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00102
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)
|
rs61750603
|
0.00101
|
NM_203290.4(POLR1C):c.193A>G (p.Met65Val)
|
rs141471029
|
0.00100
|
NM_000552.5(VWF):c.1922C>T (p.Ala641Val)
|
rs61754019
|
0.00098
|
NM_000036.3(AMPD1):c.468G>T (p.Gln156His)
|
rs139582106
|
0.00096
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)
|
rs116471343
|
0.00096
|
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)
|
rs61750604
|
0.00094
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile)
|
rs146803767
|
0.00093
|
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00092
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)
|
rs41303899
|
0.00092
|
NM_001292063.2(OTOG):c.7693+1G>A
|
rs548496846
|
0.00091
|
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)
|
rs1800548
|
0.00090
|
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser)
|
rs200631556
|
0.00090
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)
|
rs61750563
|
0.00088
|
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)
|
rs138016359
|
0.00088
|
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)
|
rs144567652
|
0.00088
|
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041
|
0.00088
|
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)
|
rs199768740
|
0.00087
|
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)
|
rs145520487
|
0.00087
|
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00086
|
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)
|
rs6068812
|
0.00084
|
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His)
|
rs147869659
|
0.00084
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)
|
rs35068278
|
0.00082
|
NM_025216.3(WNT10A):c.337C>T (p.Arg113Cys)
|
rs141074983
|
0.00080
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His)
|
rs184256941
|
0.00078
|
NM_022829.6(SLC13A3):c.1016+3A>G
|
rs199961976
|
0.00078
|
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro)
|
rs368060
|
0.00077
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)
|
rs186476316
|
0.00076
|
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)
|
rs146132083
|
0.00076
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly)
|
rs141649383
|
0.00074
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln)
|
rs78189904
|
0.00074
|
NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr)
|
rs55831733
|
0.00074
|
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)
|
rs146923842
|
0.00073
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val)
|
rs138126912
|
0.00073
|
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)
|
rs200594798
|
0.00073
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
NM_001001548.3(CD36):c.1156C>T (p.Arg386Trp)
|
rs148910227
|
0.00072
|
NM_001004320.2(AGMO):c.1213C>T (p.Arg405Ter)
|
rs139309795
|
0.00072
|
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys)
|
rs61741164
|
0.00071
|
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)
|
rs120074114
|
0.00071
|
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)
|
rs141387770
|
0.00071
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)
|
rs56399205
|
0.00071
|
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His)
|
rs137853902
|
0.00071
|
NM_003235.5(TG):c.229G>A (p.Gly77Ser)
|
rs142698837
|
0.00071
|
NM_145199.3(LIPT1):c.369del (p.Lys123fs)
|
rs552120721
|
0.00071
|
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp)
|
rs145146218
|
0.00070
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys)
|
rs139480342
|
0.00068
|
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr)
|
rs145369252
|
0.00068
|
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)
|
rs146579299
|
0.00068
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr)
|
rs515726209
|
0.00067
|
NM_015971.4(MRPS7):c.550A>G (p.Met184Val)
|
rs115047866
|
0.00067
|
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)
|
rs150334966
|
0.00066
|
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
0.00066
|
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp)
|
rs202070666
|
0.00066
|
NM_198076.6(COX20):c.157+3G>C
|
rs367956888
|
0.00066
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00066
|
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter)
|
rs151093663
|
0.00065
|
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)
|
rs61736659
|
0.00065
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_006579.3(EBP):c.511C>T (p.Arg171Cys)
|
rs141925556
|
0.00064
|
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)
|
rs119484086
|
0.00064
|
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly)
|
rs143990563
|
0.00064
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr)
|
rs184758350
|
0.00063
|
NM_001195248.2(APTX):c.-5+1G>T
|
rs146487634
|
0.00062
|
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His)
|
rs34972707
|
0.00062
|
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
|
rs144169073
|
0.00061
|
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)
|
rs151201155
|
0.00061
|
NM_000249.4(MLH1):c.1039-7_1040del
|
rs1559551447
|
0.00061
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)
|
rs34995577
|
0.00061
|
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)
|
rs202219507
|
0.00061
|
NM_001267550.2(TTN):c.29042-2A>C
|
rs6716782
|
0.00060
|
NM_001384732.1(CPLANE1):c.8462-1G>C
|
rs151279194
|
0.00060
|
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)
|
rs58639322
|
0.00060
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_145207.3(AFG2A):c.1964G>A (p.Arg655Gln)
|
rs147873489
|
0.00058
|
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly)
|
rs138435128
|
0.00058
|
NM_000153.4(GALC):c.349A>G (p.Met117Val)
|
rs145580093
|
0.00057
|
NM_000379.4(XDH):c.1686+1G>C
|
rs148412639
|
0.00057
|
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs)
|
rs750693623
|
0.00057
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter)
|
rs71454844
|
0.00057
|
NM_000069.3(CACNA1S):c.5049-2A>G
|
rs148989517
|
0.00056
|
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala)
|
rs144072210
|
0.00056
|
NM_001365276.2(TNXB):c.6074A>T (p.Asp2025Val)
|
rs201397168
|
0.00056
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr)
|
rs139486133
|
0.00056
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
NM_000128.4(F11):c.809A>T (p.Lys270Ile)
|
rs121965070
|
0.00055
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln)
|
rs141634296
|
0.00055
|
NM_006295.3(VARS1):c.3650G>A (p.Arg1217His)
|
rs368075745
|
0.00055
|
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)
|
rs143389605
|
0.00055
|
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)
|
rs200045032
|
0.00054
|
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)
|
rs141894081
|
0.00054
|
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)
|
rs34946978
|
0.00053
|
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)
|
rs370382601
|
0.00053
|
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His)
|
rs201481646
|
0.00053
|
NM_007098.4(CLTCL1):c.988G>A (p.Glu330Lys)
|
rs199652160
|
0.00053
|
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala)
|
rs138930771
|
0.00053
|
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)
|
rs121434532
|
0.00052
|
NM_024079.5(ALG8):c.478+1G>A
|
rs139832787
|
0.00052
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly)
|
rs56391938
|
0.00051
|
NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser)
|
rs149108037
|
0.00051
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_001378902.1(ROS1):c.1121G>C (p.Gly374Ala)
|
rs61743088
|
0.00050
|
NM_021870.3(FGG):c.140C>T (p.Thr47Ile)
|
rs138511699
|
0.00050
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe)
|
rs527297896
|
0.00049
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00048
|
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile)
|
rs61749376
|
0.00048
|
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro)
|
rs147200024
|
0.00048
|
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
|
rs182018947
|
0.00048
|
NM_001267550.2(TTN):c.31763-1G>A
|
rs202234172
|
0.00048
|
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)
|
rs370932895
|
0.00048
|
NM_025103.4(IFT74):c.120+2dup
|
rs551515830
|
0.00048
|
NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro)
|
rs141686175
|
0.00047
|
NM_000030.3(AGXT):c.1048G>A (p.Gly350Ser)
|
rs199610919
|
0.00046
|
NM_000080.4(CHRNE):c.901G>A (p.Val301Met)
|
rs140023380
|
0.00046
|
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)
|
rs143797113
|
0.00046
|
NM_001378609.3(OTOGL):c.6019+5G>A
|
rs368712763
|
0.00046
|
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)
|
rs148839812
|
0.00046
|
NM_012144.4(DNAI1):c.389-1G>C
|
rs200488444
|
0.00046
|
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)
|
rs146230559
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_004525.3(LRP2):c.11288A>T (p.Glu3763Val)
|
rs200475391
|
0.00045
|
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln)
|
rs201975029
|
0.00045
|
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)
|
rs376808313
|
0.00045
|
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu)
|
rs145740834
|
0.00045
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr)
|
rs149196615
|
0.00044
|
NM_020320.5(RARS2):c.773G>A (p.Arg258His)
|
rs145297855
|
0.00044
|
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
NM_001218.5(CA12):c.908-1G>A
|
rs148438059
|
0.00043
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His)
|
rs148312697
|
0.00043
|
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)
|
rs139145143
|
0.00042
|
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter)
|
rs188985665
|
0.00042
|
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu)
|
rs145039072
|
0.00042
|
NM_000298.6(PKLR):c.1435C>T (p.Arg479Cys)
|
rs201406712
|
0.00041
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp)
|
rs140757802
|
0.00041
|
NM_178452.6(DNAAF1):c.1698+1G>A
|
rs139519641
|
0.00041
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu)
|
rs144526169
|
0.00040
|
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)
|
rs201386642
|
0.00040
|
NM_001114753.3(ENG):c.-9G>A
|
rs368423516
|
0.00040
|
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu)
|
rs201077964
|
0.00040
|
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)
|
rs200897773
|
0.00040
|
NM_012073.5(CCT5):c.440A>G (p.His147Arg)
|
rs118203986
|
0.00040
|
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00039
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00039
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro)
|
rs200005406
|
0.00039
|
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)
|
rs202201763
|
0.00039
|
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)
|
rs151254520
|
0.00038
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
NM_001395891.1(CLASP1):c.196-567G>A
|
rs559979281
|
0.00038
|
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)
|
rs142546324
|
0.00038
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)
|
rs201346206
|
0.00038
|
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter)
|
rs1004428835
|
0.00037
|
NM_001609.4(ACADSB):c.303+1G>A
|
rs147936696
|
0.00037
|
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter)
|
rs144666367
|
0.00037
|
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met)
|
rs779248881
|
0.00037
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000505.4(F12):c.1681-1G>A
|
rs199988476
|
0.00036
|
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro)
|
rs121918282
|
0.00036
|
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser)
|
rs66864704
|
0.00036
|
NM_002303.6(LEPR):c.1835G>A (p.Arg612His)
|
rs144159890
|
0.00036
|
NM_203447.4(DOCK8):c.54-1G>T
|
rs192864327
|
0.00036
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)
|
rs781136336
|
0.00035
|
NM_000303.3(PMM2):c.713G>A (p.Arg238His)
|
rs151319324
|
0.00035
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)
|
rs138000380
|
0.00035
|
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)
|
rs145141811
|
0.00035
|
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
|
rs35003977
|
0.00034
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly)
|
rs143388292
|
0.00034
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile)
|
rs145475623
|
0.00034
|
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)
|
rs72553877
|
0.00034
|
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala)
|
rs200662973
|
0.00034
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)
|
rs2277596
|
0.00034
|
NM_139281.3(WDR36):c.896A>G (p.Asn299Ser)
|
rs118204022
|
0.00034
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)
|
rs371412500
|
0.00032
|
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu)
|
rs137854861
|
0.00032
|
NM_001089.3(ABCA3):c.418A>C (p.Asn140His)
|
rs45447801
|
0.00032
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)
|
rs28937873
|
0.00032
|
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)
|
rs144860227
|
0.00032
|
NM_015202.5(KATNIP):c.1730G>A (p.Trp577Ter)
|
rs200353633
|
0.00032
|
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu)
|
rs148832260
|
0.00032
|
NM_183065.4(TMEM107):c.*638C>T
|
rs368022715
|
0.00032
|
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)
|
rs121912682
|
0.00031
|
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)
|
rs61761869
|
0.00031
|
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)
|
rs72553875
|
0.00031
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)
|
rs142371860
|
0.00031
|
NM_173477.5(USH1G):c.310A>G (p.Met104Val)
|
rs149529031
|
0.00031
|
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)
|
rs121913016
|
0.00030
|
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)
|
rs587783504
|
0.00030
|
NM_024513.4(FYCO1):c.265C>T (p.Arg89Cys)
|
rs141476300
|
0.00030
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)
|
rs63159160
|
0.00029
|
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)
|
rs144564120
|
0.00029
|
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
|
rs143139258
|
0.00029
|
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn)
|
rs201759207
|
0.00029
|
NM_000540.3(RYR1):c.1598G>A (p.Arg533His)
|
rs144336148
|
0.00029
|
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)
|
rs149653983
|
0.00029
|
NM_015693.4(INTU):c.1628G>A (p.Arg543His)
|
rs34027211
|
0.00029
|
NM_207581.4(DUOXA2):c.205+2T>C
|
rs201506037
|
0.00029
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)
|
rs121917716
|
0.00028
|
NM_001171.6(ABCC6):c.496C>T (p.Arg166Cys)
|
rs201766106
|
0.00028
|
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln)
|
rs367658663
|
0.00028
|
NM_001930.4(DHPS):c.1014+1G>A
|
rs142633494
|
0.00028
|
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)
|
rs145068530
|
0.00028
|
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu)
|
rs56307355
|
0.00028
|
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys)
|
rs202060864
|
0.00028
|
NM_014321.4(ORC6):c.2T>C (p.Met1Thr)
|
rs146795505
|
0.00028
|
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)
|
rs773033563
|
0.00028
|
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp)
|
rs146503501
|
0.00028
|
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)
|
rs34706299
|
0.00027
|
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)
|
rs139455627
|
0.00027
|
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
|
rs148044781
|
0.00026
|
NM_000312.4(PROC):c.565C>T (p.Arg189Trp)
|
rs146922325
|
0.00026
|
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile)
|
rs182683829
|
0.00026
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_005422.4(TECTA):c.327C>T (p.Gly109=)
|
rs727504830
|
0.00026
|
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
|
rs140872693
|
0.00026
|
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp)
|
rs587731325
|
0.00026
|
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile)
|
rs200393300
|
0.00026
|
NM_020631.6(PLEKHG5):c.440-2A>G
|
rs144750655
|
0.00026
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
|
rs570277510
|
0.00026
|
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)
|
rs189601972
|
0.00025
|
NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys)
|
rs28931603
|
0.00025
|
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)
|
rs142931246
|
0.00025
|
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)
|
rs201842633
|
0.00025
|
NM_001395891.1(CLASP1):c.196-562G>A
|
rs370715569
|
0.00025
|
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser)
|
rs114970039
|
0.00025
|
NM_000152.5(GAA):c.922C>T (p.His308Tyr)
|
rs112025212
|
0.00024
|
NM_000237.3(LPL):c.998G>A (p.Arg333His)
|
rs144466625
|
0.00024
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)
|
rs1800408
|
0.00024
|
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)
|
rs61752424
|
0.00024
|
NM_000399.5(EGR2):c.192G>C (p.Met64Ile)
|
rs146631014
|
0.00024
|
NM_000743.5(CHRNA3):c.907_908del (p.Leu303fs)
|
rs538193392
|
0.00024
|
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala)
|
rs139373929
|
0.00024
|
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)
|
rs202037973
|
0.00024
|
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala)
|
rs189270875
|
0.00024
|
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)
|
rs200488568
|
0.00024
|
NM_006031.6(PCNT):c.9661C>T (p.Arg3221Trp)
|
rs141304187
|
0.00024
|
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)
|
rs370359511
|
0.00024
|
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)
|
rs139469785
|
0.00024
|
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)
|
rs142053576
|
0.00024
|
NM_015836.4(WARS2):c.791A>G (p.Tyr264Cys)
|
rs139194636
|
0.00024
|
NM_016004.5(IFT52):c.931G>A (p.Glu311Lys)
|
rs145672738
|
0.00024
|
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln)
|
rs117071200
|
0.00024
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)
|
rs74315447
|
0.00024
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
NM_001363711.2(DUOX2):c.1516G>A (p.Asp506Asn)
|
rs200134167
|
0.00023
|
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)
|
rs79987078
|
0.00023
|
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter)
|
rs756339822
|
0.00023
|
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile)
|
rs149955375
|
0.00022
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)
|
rs142063461
|
0.00022
|
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)
|
rs200561798
|
0.00022
|
NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp)
|
rs375624435
|
0.00022
|
NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp)
|
rs150832314
|
0.00022
|
NM_054012.4(ASS1):c.-4C>T
|
rs138350285
|
0.00022
|
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys)
|
rs121917828
|
0.00022
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987
|
0.00021
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)
|
rs199473603
|
0.00021
|
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg)
|
rs150202444
|
0.00021
|
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter)
|
rs149102421
|
0.00021
|
NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln)
|
rs139861201
|
0.00021
|
NM_012275.3(IL36RN):c.115+6T>C
|
rs148755083
|
0.00021
|
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys)
|
rs72553876
|
0.00021
|
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)
|
rs144181978
|
0.00021
|
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln)
|
rs72546338
|
0.00021
|
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val)
|
rs149684063
|
0.00021
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly)
|
rs145718830
|
0.00020
|
NM_001102564.3(IFT43):c.296-5602T>C
|
rs141114765
|
0.00020
|
NM_001109878.2(TBX22):c.459-5T>A
|
rs200060292
|
0.00020
|
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg)
|
rs753904927
|
0.00020
|
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser)
|
rs72648922
|
0.00020
|
NM_001849.4(COL6A2):c.759A>G (p.Glu253=)
|
rs140404854
|
0.00020
|
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His)
|
rs147226818
|
0.00020
|
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter)
|
rs138593211
|
0.00020
|
NM_024678.6(NARS2):c.1253G>A (p.Arg418His)
|
rs535877562
|
0.00020
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)
|
rs121912863
|
0.00019
|
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala)
|
rs143321486
|
0.00019
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser)
|
rs763409574
|
0.00019
|
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)
|
rs563581127
|
0.00019
|
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)
|
rs146786552
|
0.00019
|
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)
|
rs138065384
|
0.00019
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)
|
rs142773283
|
0.00019
|
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)
|
rs149279509
|
0.00019
|
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)
|
rs201299260
|
0.00019
|
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)
|
rs138680796
|
0.00019
|
NM_001354768.3(NRL):c.654del (p.Cys219fs)
|
rs761024023
|
0.00019
|
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro)
|
rs121918643
|
0.00019
|
NM_003235.5(TG):c.4378G>A (p.Val1460Ile)
|
rs199615848
|
0.00019
|
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)
|
rs374746113
|
0.00019
|
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)
|
rs117134265
|
0.00019
|
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp)
|
rs386833960
|
0.00019
|
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)
|
rs200503833
|
0.00019
|
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)
|
rs200644381
|
0.00019
|
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr)
|
rs200620279
|
0.00019
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp)
|
rs368280129
|
0.00019
|
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp)
|
rs121918403
|
0.00019
|
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)
|
rs121908253
|
0.00019
|
NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly)
|
rs137973334
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys)
|
rs138065338
|
0.00018
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu)
|
rs201200122
|
0.00018
|
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)
|
rs199476083
|
0.00018
|
NM_012203.2(GRHPR):c.955G>T (p.Gly319Trp)
|
rs142835989
|
0.00018
|
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)
|
rs369697947
|
0.00018
|
NM_015311.3(OBSL1):c.3922C>T (p.Arg1308Ter)
|
rs561778744
|
0.00018
|
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile)
|
rs201273304
|
0.00018
|
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)
|
rs190298665
|
0.00017
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000372.5(TYR):c.915C>A (p.Asp305Glu)
|
rs142170797
|
0.00017
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)
|
rs144067930
|
0.00017
|
NM_001194998.2(CEP152):c.4087C>T (p.Gln1363Ter)
|
rs201442213
|
0.00017
|
NM_001326411.2(PISD):c.830G>A (p.Arg277Gln)
|
rs147371584
|
0.00017
|
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys)
|
rs201664019
|
0.00017
|
NM_006767.4(LZTR1):c.264-13G>A
|
rs587777176
|
0.00017
|
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
|
rs371753672
|
0.00017
|
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp)
|
rs142143752
|
0.00017
|
NM_016335.6(PRODH):c.930-1G>C
|
rs751149776
|
0.00017
|
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys)
|
rs2229820
|
0.00016
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
NM_000146.4(FTL):c.169G>A (p.Glu57Lys)
|
rs201241191
|
0.00016
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_000275.3(OCA2):c.1239+5G>C
|
rs757119713
|
0.00016
|
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)
|
rs137854617
|
0.00016
|
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)
|
rs137852313
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
0.00016
|
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp)
|
rs281865548
|
0.00016
|
NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser)
|
rs190968346
|
0.00016
|
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp)
|
rs202182978
|
0.00016
|
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp)
|
rs187868672
|
0.00016
|
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu)
|
rs373946181
|
0.00016
|
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter)
|
rs943680446
|
0.00016
|
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His)
|
rs35027371
|
0.00016
|
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn)
|
rs28929488
|
0.00016
|
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser)
|
rs121913010
|
0.00016
|
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter)
|
rs200800978
|
0.00016
|
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)
|
rs137853054
|
0.00016
|
NM_005912.3(MC4R):c.508A>G (p.Ile170Val)
|
rs121913560
|
0.00016
|
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)
|
rs200672755
|
0.00016
|
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys)
|
rs200099217
|
0.00016
|
NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter)
|
rs202219343
|
0.00016
|
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
NM_014321.4(ORC6):c.449+5G>A
|
rs572314014
|
0.00016
|
NM_015274.3(MAN2B2):c.112G>A (p.Asp38Asn)
|
rs200406024
|
0.00016
|
NM_015466.4(PTPN23):c.1291C>T (p.Arg431Trp)
|
rs150712932
|
0.00016
|
NM_017547.4(FOXRED1):c.920G>A (p.Gly307Glu)
|
rs145888229
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)
|
rs199874519
|
0.00016
|
NM_020320.5(RARS2):c.472_474del (p.Lys158del)
|
rs757743894
|
0.00016
|
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter)
|
rs138846118
|
0.00016
|
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg)
|
rs199761861
|
0.00016
|
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met)
|
rs139024319
|
0.00016
|
NM_022367.4(SEMA4A):c.302T>C (p.Ile101Thr)
|
rs149652495
|
0.00016
|
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val)
|
rs201803986
|
0.00016
|
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu)
|
rs145141656
|
0.00016
|
NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys)
|
rs755169246
|
0.00016
|
NM_145207.3(AFG2A):c.1912A>G (p.Lys638Glu)
|
rs560475969
|
0.00016
|
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr)
|
rs202218969
|
0.00015
|
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)
|
rs747026964
|
0.00015
|
NM_000312.4(PROC):c.703A>C (p.Lys235Gln)
|
rs370086431
|
0.00015
|
NM_001040716.2(PC):c.786G>T (p.Glu262Asp)
|
rs200030109
|
0.00015
|
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)
|
rs367566671
|
0.00015
|
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)
|
rs371146201
|
0.00015
|
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)
|
rs782339984
|
0.00015
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077
|
0.00015
|
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)
|
rs121908114
|
0.00015
|
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr)
|
rs147054690
|
0.00015
|
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)
|
rs375014127
|
0.00015
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00014
|
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)
|
rs201509501
|
0.00014
|
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile)
|
rs267607134
|
0.00014
|
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)
|
rs28933673
|
0.00014
|
NM_000350.3(ABCA4):c.2673A>T (p.Glu891Asp)
|
rs766079334
|
0.00014
|
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)
|
rs121909207
|
0.00014
|
NM_000393.5(COL5A2):c.322+1G>C
|
rs770598613
|
0.00014
|
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu)
|
rs142484434
|
0.00014
|
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)
|
rs766383135
|
0.00014
|
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)
|
rs147320363
|
0.00014
|
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys)
|
rs200534908
|
0.00014
|
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro)
|
rs150802299
|
0.00014
|
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)
|
rs144598063
|
0.00014
|
NM_001267550.2(TTN):c.38122+2T>C
|
rs781392575
|
0.00014
|
NM_001298.3(CNGA3):c.101+1G>A
|
rs147118493
|
0.00014
|
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)
|
rs142808899
|
0.00014
|
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)
|
rs367709427
|
0.00014
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00014
|
NM_003366.4(UQCRC2):c.361T>C (p.Tyr121His)
|
rs778618710
|
0.00014
|
NM_003504.5(CDC45):c.1416C>T (p.His472=)
|
rs190155337
|
0.00014
|
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu)
|
rs137852937
|
0.00014
|
NM_004004.6(GJB2):c.110T>C (p.Val37Ala)
|
rs141774369
|
0.00014
|
NM_005908.4(MANBA):c.1499G>A (p.Arg500His)
|
rs147542645
|
0.00014
|
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys)
|
rs200138092
|
0.00014
|
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)
|
rs150283105
|
0.00014
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
NM_016955.4(SEPSECS):c.548-1G>A
|
rs200041461
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_018136.5(ASPM):c.9294+2T>C
|
rs199503603
|
0.00014
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser)
|
rs138081429
|
0.00014
|
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)
|
rs199795381
|
0.00014
|
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu)
|
rs145199888
|
0.00014
|
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg)
|
rs199573774
|
0.00014
|
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe)
|
rs200142963
|
0.00014
|
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)
|
rs145078268
|
0.00013
|
NM_000169.3(GLA):c.1088G>A (p.Arg363His)
|
rs111422676
|
0.00013
|
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)
|
rs199472776
|
0.00013
|
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)
|
rs199472728
|
0.00013
|
NM_000237.3(LPL):c.286G>C (p.Val96Leu)
|
rs373088068
|
0.00013
|
NM_001001548.3(CD36):c.430-2A>G
|
rs3211901
|
0.00013
|
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)
|
rs780163791
|
0.00013
|
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His)
|
rs146159479
|
0.00013
|
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln)
|
rs542708170
|
0.00013
|
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe)
|
rs185504536
|
0.00013
|
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg)
|
rs281875281
|
0.00013
|
NM_001379180.1(ESRRB):c.1360G>C (p.Val454Leu)
|
rs546495818
|
0.00013
|
NM_001737.5(C9):c.355T>G (p.Cys119Gly)
|
rs121909593
|
0.00013
|
NM_001851.6(COL9A1):c.876+2T>A
|
rs149830493
|
0.00013
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_007374.3(SIX6):c.473A>C (p.Lys158Thr)
|
rs749617848
|
0.00013
|
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala)
|
rs200451098
|
0.00013
|
NM_021625.5(TRPV4):c.137C>T (p.Ser46Phe)
|
rs202066574
|
0.00013
|
NM_144991.3(TSPEAR):c.1877T>C (p.Phe626Ser)
|
rs369010851
|
0.00013
|
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu)
|
rs199624315
|
0.00013
|
NM_181840.1(KCNK18):c.361dup (p.Tyr121fs)
|
rs541915908
|
0.00013
|
NM_182961.4(SYNE1):c.226-2dup
|
rs774388631
|
0.00013
|
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)
|
rs111033330
|
0.00013
|
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly)
|
rs776981958
|
0.00013
|
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)
|
rs199773340
|
0.00012
|
NM_000132.4(F8):c.222G>A (p.Thr74=)
|
rs1232517683
|
0.00012
|
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys)
|
rs775570414
|
0.00012
|
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)
|
rs368838866
|
0.00012
|
NM_000787.4(DBH):c.1033G>A (p.Asp345Asn)
|
rs267606761
|
0.00012
|
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter)
|
rs200693133
|
0.00012
|
NM_001081.4(CUBN):c.348+2T>C
|
rs146047781
|
0.00012
|
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser)
|
rs375209098
|
0.00012
|
NM_001292063.2(OTOG):c.2080+5G>C
|
rs765790706
|
0.00012
|
NM_001330691.3(CEP78):c.491G>A (p.Gly164Asp)
|
rs200752089
|
0.00012
|
NM_003000.3(SDHB):c.403G>A (p.Val135Met)
|
rs201585157
|
0.00012
|
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)
|
rs150321966
|
0.00012
|
NM_005373.3(MPL):c.391+5G>C
|
rs752453717
|
0.00012
|
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)
|
rs200311463
|
0.00012
|
NM_006736.6(DNAJB2):c.230-2A>G
|
rs369661561
|
0.00012
|
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg)
|
rs143027621
|
0.00012
|
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)
|
rs142236568
|
0.00012
|
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)
|
rs372918203
|
0.00012
|
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp)
|
rs374963946
|
0.00012
|
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu)
|
rs200088377
|
0.00012
|
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys)
|
rs148562777
|
0.00012
|
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)
|
rs904631654
|
0.00011
|
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp)
|
rs774030578
|
0.00011
|
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr)
|
rs200728096
|
0.00011
|
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile)
|
rs750530407
|
0.00011
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)
|
rs752200396
|
0.00011
|
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln)
|
rs191009474
|
0.00011
|
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly)
|
rs199638166
|
0.00011
|
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln)
|
rs551548107
|
0.00011
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)
|
rs376968326
|
0.00011
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)
|
rs193922879
|
0.00011
|
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln)
|
rs200069592
|
0.00011
|
NM_000666.3(ACY1):c.480_493dup (p.His165fs)
|
rs769746453
|
0.00011
|
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr)
|
rs542692632
|
0.00011
|
NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His)
|
rs568165874
|
0.00011
|
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)
|
rs144601090
|
0.00011
|
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)
|
rs121908578
|
0.00011
|
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met)
|
rs116040763
|
0.00011
|
NM_001363711.2(DUOX2):c.2922-14_2925del
|
rs760031457
|
0.00011
|
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)
|
rs78853309
|
0.00011
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp)
|
rs200865845
|
0.00011
|
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile)
|
rs376670171
|
0.00011
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)
|
rs11546842
|
0.00011
|
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu)
|
rs140649226
|
0.00011
|
NM_003119.4(SPG7):c.1586C>T (p.Ala529Val)
|
rs748600162
|
0.00011
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00011
|
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys)
|
rs11568437
|
0.00011
|
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys)
|
rs143177272
|
0.00011
|
NM_005908.4(MANBA):c.1913G>A (p.Arg638His)
|
rs781584789
|
0.00011
|
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu)
|
rs121918342
|
0.00011
|
NM_006017.3(PROM1):c.2490-2A>G
|
rs375813885
|
0.00011
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile)
|
rs369950120
|
0.00011
|
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu)
|
rs139497891
|
0.00011
|
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)
|
rs372359781
|
0.00011
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00011
|
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)
|
rs61752334
|
0.00011
|
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys)
|
rs369762154
|
0.00011
|
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)
|
rs72552291
|
0.00011
|
NM_015466.4(PTPN23):c.3748G>A (p.Glu1250Lys)
|
rs148689441
|
0.00011
|
NM_016239.4(MYO15A):c.6580C>T (p.Arg2194Trp)
|
rs773551819
|
0.00011
|
NM_018718.3(CEP41):c.107T>C (p.Met36Thr)
|
rs368178632
|
0.00011
|
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val)
|
rs201041864
|
0.00011
|
NM_020442.6(VARS2):c.2584G>A (p.Glu862Lys)
|
rs200019717
|
0.00011
|
NM_020632.3(ATP6V0A4):c.1029+5G>A
|
rs147476317
|
0.00011
|
NM_022041.4(GAN):c.944C>T (p.Pro315Leu)
|
rs144486241
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_078470.6(COX15):c.396-3C>G
|
rs200910834
|
0.00011
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)
|
rs137853197
|
0.00011
|
NM_000053.4(ATP7B):c.3243+5G>A
|
rs373193482
|
0.00010
|
NM_000071.3(CBS):c.770C>T (p.Thr257Met)
|
rs758236584
|
0.00010
|
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln)
|
rs368404711
|
0.00010
|
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe)
|
rs749895856
|
0.00010
|
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)
|
rs200785120
|
0.00010
|
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)
|
rs200764804
|
0.00010
|
NM_000286.3(PEX12):c.681-2A>C
|
rs187526749
|
0.00010
|
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)
|
rs139185976
|
0.00010
|
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp)
|
rs397516426
|
0.00010
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser)
|
rs193922808
|
0.00010
|
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys)
|
rs61750077
|
0.00010
|
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)
|
rs193922626
|
0.00010
|
NM_001130144.3(LTBP3):c.1550C>T (p.Pro517Leu)
|
rs145001056
|
0.00010
|
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)
|
rs199870606
|
0.00010
|
NM_001254.4(CDC6):c.597C>G (p.Tyr199Ter)
|
rs200468440
|
0.00010
|
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter)
|
rs370912401
|
0.00010
|
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr)
|
rs72648215
|
0.00010
|
NM_001278716.2(FBXL4):c.1126G>A (p.Glu376Lys)
|
rs745512025
|
0.00010
|
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter)
|
rs1407028917
|
0.00010
|
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)
|
rs542266962
|
0.00010
|
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu)
|
rs41279408
|
0.00010
|
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)
|
rs191391414
|
0.00010
|
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563
|
0.00010
|
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)
|
rs181860632
|
0.00010
|
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser)
|
rs200702528
|
0.00010
|
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His)
|
rs147455037
|
0.00010
|
NM_005327.7(HADH):c.676T>C (p.Tyr226His)
|
rs146036912
|
0.00010
|
NM_005560.6(LAMA5):c.6301G>A (p.Glu2101Lys)
|
rs370433088
|
0.00010
|
NM_013251.4(TAC3):c.248A>G (p.His83Arg)
|
rs143862988
|
0.00010
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00010
|
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)
|
rs371675497
|
0.00010
|
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe)
|
rs144405450
|
0.00010
|
NM_017999.5(RNF31):c.2480G>A (p.Arg827His)
|
rs377035972
|
0.00010
|
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)
|
rs138884194
|
0.00010
|
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)
|
rs121908173
|
0.00010
|
NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser)
|
rs149992595
|
0.00010
|
NM_145886.4(PIDD1):c.2042-2A>G
|
rs199752248
|
0.00010
|
NM_152443.3(RDH12):c.701G>A (p.Arg234His)
|
rs750636662
|
0.00010
|
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)
|
rs137854526
|
0.00010
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val)
|
rs202210810
|
0.00009
|
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala)
|
rs80338711
|
0.00009
|
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)
|
rs762866453
|
0.00009
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr)
|
rs886043191
|
0.00009
|
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)
|
rs369294972
|
0.00009
|
NM_000161.3(GCH1):c.610G>A (p.Val204Ile)
|
rs200891969
|
0.00009
|
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)
|
rs386833565
|
0.00009
|
NM_000179.3(MSH6):c.1730G>A (p.Arg577His)
|
rs376220212
|
0.00009
|
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu)
|
rs199505265
|
0.00009
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)
|
rs200939753
|
0.00009
|
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr)
|
rs762517273
|
0.00009
|
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)
|
rs765779905
|
0.00009
|
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)
|
rs1429137932
|
0.00009
|
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu)
|
rs141944551
|
0.00009
|
NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn)
|
rs142527052
|
0.00009
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)
|
rs375315619
|
0.00009
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)
|
rs140502196
|
0.00009
|
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)
|
rs151207122
|
0.00009
|
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp)
|
rs373336888
|
0.00009
|
NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys)
|
rs183911558
|
0.00009
|
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln)
|
rs201727231
|
0.00009
|
NM_001083961.2(WDR62):c.1043+3A>G
|
rs587784541
|
0.00009
|
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys)
|
rs515726212
|
0.00009
|
NM_001126108.2(SLC12A3):c.602-16G>A
|
rs750901478
|
0.00009
|
NM_001164508.2(NEB):c.22590+2T>C
|
rs200449517
|
0.00009
|
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)
|
rs145285434
|
0.00009
|
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)
|
rs376478015
|
0.00009
|
NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln)
|
rs139484231
|
0.00009
|
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn)
|
rs368924655
|
0.00009
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)
|
rs121918232
|
0.00009
|
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg)
|
rs200295901
|
0.00009
|
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg)
|
rs373698346
|
0.00009
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_001378609.3(OTOGL):c.236-2A>G
|
rs766564988
|
0.00009
|
NM_001486.4(GCKR):c.151C>T (p.Arg51Ter)
|
rs375836361
|
0.00009
|
NM_001558.4(IL10RA):c.170A>G (p.Tyr57Cys)
|
rs201643277
|
0.00009
|
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys)
|
rs201765587
|
0.00009
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
0.00009
|
NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser)
|
rs1321621475
|
0.00009
|
NM_004004.6(GJB2):c.487A>G (p.Met163Val)
|
rs80338949
|
0.00009
|
NM_005430.4(WNT1):c.506G>A (p.Gly169Asp)
|
rs371672410
|
0.00009
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)
|
rs758719669
|
0.00009
|
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met)
|
rs371709824
|
0.00009
|
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp)
|
rs776893978
|
0.00009
|
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser)
|
rs930347206
|
0.00009
|
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)
|
rs199826737
|
0.00009
|
NM_015466.4(PTPN23):c.695G>A (p.Arg232Gln)
|
rs577689618
|
0.00009
|
NM_016038.4(SBDS):c.388G>A (p.Val130Met)
|
rs201070132
|
0.00009
|
NM_016111.4(TELO2):c.2312T>C (p.Leu771Ser)
|
rs201230315
|
0.00009
|
NM_016239.4(MYO15A):c.6764+2T>A
|
rs763975867
|
0.00009
|
NM_017433.5(MYO3A):c.315del (p.Gly106fs)
|
rs777580042
|
0.00009
|
NM_020117.11(LARS1):c.2770-2A>G
|
rs139456270
|
0.00009
|
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)
|
rs121918420
|
0.00009
|
NM_022773.4(LMF1):c.295C>T (p.Gln99Ter)
|
rs752473648
|
0.00009
|
NM_024516.4(PAGR1):c.274A>G (p.Ser92Gly)
|
rs375215655
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro)
|
rs372174278
|
0.00009
|
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys)
|
rs373514077
|
0.00009
|
NM_054012.4(ASS1):c.19G>A (p.Val7Met)
|
rs149938546
|
0.00009
|
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)
|
rs183276875
|
0.00009
|
NM_133259.4(LRPPRC):c.2210+4A>C
|
rs190007694
|
0.00009
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys)
|
rs121909448
|
0.00009
|
NM_181882.3(PRX):c.2463C>T (p.Gly821=)
|
rs368481955
|
0.00009
|
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)
|
rs142095945
|
0.00009
|
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln)
|
rs139618850
|
0.00009
|
NM_000048.4(ASL):c.571C>T (p.Arg191Trp)
|
rs143508372
|
0.00008
|
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val)
|
rs149969786
|
0.00008
|
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu)
|
rs764323652
|
0.00008
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln)
|
rs138362632
|
0.00008
|
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His)
|
rs368705036
|
0.00008
|
NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr)
|
rs61754056
|
0.00008
|
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
NM_000380.4(XPA):c.731A>G (p.His244Arg)
|
rs144725456
|
0.00008
|
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn)
|
rs145966505
|
0.00008
|
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)
|
rs199791061
|
0.00008
|
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)
|
rs138315511
|
0.00008
|
NM_000527.5(LDLR):c.1503G>A (p.Ala501=)
|
rs368889457
|
0.00008
|
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)
|
rs139660235
|
0.00008
|
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)
|
rs374615369
|
0.00008
|
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His)
|
rs184758570
|
0.00008
|
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu)
|
rs375935084
|
0.00008
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
NM_004525.3(LRP2):c.5120C>T (p.Ser1707Phe)
|
rs745788682
|
0.00008
|
NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala)
|
rs542768500
|
0.00008
|
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser)
|
rs201042910
|
0.00008
|
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)
|
rs13447331
|
0.00008
|
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter)
|
rs118031911
|
0.00008
|
NM_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys)
|
rs200129338
|
0.00008
|
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met)
|
rs1127511
|
0.00008
|
NM_014639.4(SKIC3):c.642+1G>A
|
rs538894487
|
0.00008
|
NM_015466.4(PTPN23):c.1748A>G (p.Lys583Arg)
|
rs147293860
|
0.00008
|
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys)
|
rs376469502
|
0.00008
|
NM_016239.4(MYO15A):c.6302T>C (p.Leu2101Pro)
|
rs201908493
|
0.00008
|
NM_020461.4(TUBGCP6):c.5263_5273dup (p.Arg1763fs)
|
rs775659848
|
0.00008
|
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)
|
rs137852989
|
0.00008
|
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser)
|
rs267606941
|
0.00008
|
NM_032520.5(GNPTG):c.238_243del (p.Lys80_Tyr81del)
|
rs773452586
|
0.00008
|
NM_054012.4(ASS1):c.773C>T (p.Ala258Val)
|
rs753078725
|
0.00008
|
NM_139076.3(ABRAXAS1):c.1082G>A (p.Arg361Gln)
|
rs201627097
|
0.00008
|
NM_144991.3(TSPEAR):c.1247A>C (p.Tyr416Ser)
|
rs781913166
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)
|
rs146525143
|
0.00007
|
NM_000046.5(ARSB):c.667A>G (p.Ile223Val)
|
rs367650121
|
0.00007
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser)
|
rs372786811
|
0.00007
|
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)
|
rs375690568
|
0.00007
|
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)
|
rs150938052
|
0.00007
|
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys)
|
rs370170143
|
0.00007
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
0.00007
|
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)
|
rs63750809
|
0.00007
|
NM_000260.4(MYO7A):c.287C>T (p.Thr96Met)
|
rs781811444
|
0.00007
|
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala)
|
rs104894030
|
0.00007
|
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)
|
rs145952475
|
0.00007
|
NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val)
|
rs370588133
|
0.00007
|
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val)
|
rs199473625
|
0.00007
|
NM_000384.3(APOB):c.9491C>T (p.Thr3164Met)
|
rs143269114
|
0.00007
|
NM_000448.3(RAG1):c.1A>G (p.Met1Val)
|
rs200575481
|
0.00007
|
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)
|
rs193922497
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu)
|
rs759109699
|
0.00007
|
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)
|
rs147750704
|
0.00007
|
NM_001080.3(ALDH5A1):c.764A>G (p.Asn255Ser)
|
rs145087265
|
0.00007
|
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
|
rs202153130
|
0.00007
|
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=)
|
rs781940286
|
0.00007
|
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His)
|
rs368798160
|
0.00007
|
NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile)
|
rs193922637
|
0.00007
|
NM_001278116.2(L1CAM):c.1124-6_1124-3dup
|
rs782713149
|
0.00007
|
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)
|
rs771487311
|
0.00007
|
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser)
|
rs201101621
|
0.00007
|
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys)
|
rs758746181
|
0.00007
|
NM_001927.4(DES):c.193G>A (p.Gly65Ser)
|
rs397516692
|
0.00007
|
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp)
|
rs757369063
|
0.00007
|
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)
|
rs200699819
|
0.00007
|
NM_003104.6(SORD):c.1021G>T (p.Gly341Ter)
|
rs750210485
|
0.00007
|
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe)
|
rs570069789
|
0.00007
|
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs)
|
rs587781442
|
0.00007
|
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr)
|
rs281875318
|
0.00007
|
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)
|
rs121908706
|
0.00007
|
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys)
|
rs373369949
|
0.00007
|
NM_015559.3(SETBP1):c.487-1G>A
|
rs147805077
|
0.00007
|
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His)
|
rs376351191
|
0.00007
|
NM_020191.4(MRPS22):c.1032_1035dup (p.Leu346fs)
|
rs772578397
|
0.00007
|
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter)
|
rs201850378
|
0.00007
|
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly)
|
rs199473678
|
0.00007
|
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln)
|
rs757836523
|
0.00007
|
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met)
|
rs756414393
|
0.00007
|
NM_032383.5(HPS3):c.2888-1612G>A
|
rs281865096
|
0.00007
|
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu)
|
rs150734953
|
0.00007
|
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)
|
rs140881518
|
0.00007
|
NM_054012.4(ASS1):c.805G>A (p.Val269Met)
|
rs370595480
|
0.00007
|
NM_144988.4(ALG14):c.136+1G>C
|
rs150550220
|
0.00007
|
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn)
|
rs180747811
|
0.00007
|
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)
|
rs116802390
|
0.00007
|
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro)
|
rs775605330
|
0.00007
|
NM_198076.6(COX20):c.92G>A (p.Arg31Gln)
|
rs764620077
|
0.00007
|
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)
|
rs151057466
|
0.00007
|
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His)
|
rs201386640
|
0.00007
|
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter)
|
rs767774362
|
0.00006
|
NM_000017.4(ACADS):c.575C>T (p.Ala192Val)
|
rs28940874
|
0.00006
|
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys)
|
rs539219309
|
0.00006
|
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)
|
rs147366714
|
0.00006
|
NM_000020.3(ACVRL1):c.682G>A (p.Val228Ile)
|
rs138048445
|
0.00006
|
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)
|
rs782157913
|
0.00006
|
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His)
|
rs369586696
|
0.00006
|
NM_000047.3(ARSL):c.1163G>A (p.Arg388His)
|
rs754500316
|
0.00006
|
NM_000053.4(ATP7B):c.-676A>G
|
rs1021025464
|
0.00006
|
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp)
|
rs539585071
|
0.00006
|
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)
|
rs200290721
|
0.00006
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)
|
rs199907548
|
0.00006
|
NM_000079.4(CHRNA1):c.280G>T (p.Gly94Cys)
|
rs199470444
|
0.00006
|
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile)
|
rs777685454
|
0.00006
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
NM_000136.3(FANCC):c.843+5G>A
|
rs369082921
|
0.00006
|
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)
|
rs149062442
|
0.00006
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln)
|
rs374687883
|
0.00006
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00006
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
NM_000158.4(GBE1):c.555+1G>T
|
rs759707498
|
0.00006
|
NM_000158.4(GBE1):c.785G>A (p.Arg262His)
|
rs369574719
|
0.00006
|
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala)
|
rs371159065
|
0.00006
|
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp)
|
rs764006338
|
0.00006
|
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)
|
rs118204095
|
0.00006
|
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)
|
rs779339230
|
0.00006
|
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)
|
rs138771756
|
0.00006
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
NM_000257.4(MYH7):c.3814G>A (p.Asp1272Asn)
|
rs730880906
|
0.00006
|
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)
|
rs200416912
|
0.00006
|
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
|
rs397516322
|
0.00006
|
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)
|
rs201539845
|
0.00006
|
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr)
|
rs745803719
|
0.00006
|
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu)
|
rs190612616
|
0.00006
|
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys)
|
rs374156343
|
0.00006
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)
|
rs368582085
|
0.00006
|
NM_000322.5(PRPH2):c.923T>A (p.Leu308Gln)
|
rs762660751
|
0.00006
|
NM_000350.3(ABCA4):c.3184C>A (p.Leu1062Ile)
|
rs966434923
|
0.00006
|
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys)
|
rs397514524
|
0.00006
|
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)
|
rs144467873
|
0.00006
|
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln)
|
rs780634117
|
0.00006
|
NM_000414.4(HSD17B4):c.58+190T>A
|
rs1001866915
|
0.00006
|
NM_000428.3(LTBP2):c.4699A>G (p.Met1567Val)
|
rs137854864
|
0.00006
|
NM_000441.2(SLC26A4):c.-4+5G>A
|
rs727503425
|
0.00006
|
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met)
|
rs370029782
|
0.00006
|
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)
|
rs397516421
|
0.00006
|
NM_000441.2(SLC26A4):c.920C>T (p.Thr307Met)
|
rs144691257
|
0.00006
|
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)
|
rs372685632
|
0.00006
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_000497.4(CYP11B1):c.799+5G>C
|
rs193922542
|
0.00006
|
NM_000520.6(HEXA):c.806-7G>A
|
rs770932296
|
0.00006
|
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)
|
rs375009082
|
0.00006
|
NM_000527.5(LDLR):c.233G>A (p.Arg78His)
|
rs146675823
|
0.00006
|
NM_000527.5(LDLR):c.344G>A (p.Arg115His)
|
rs201102461
|
0.00006
|
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)
|
rs373869746
|
0.00006
|
NM_000527.5(LDLR):c.979C>T (p.His327Tyr)
|
rs747507019
|
0.00006
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)
|
rs150993059
|
0.00006
|
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)
|
rs587784379
|
0.00006
|
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)
|
rs375626634
|
0.00006
|
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)
|
rs559088058
|
0.00006
|
NM_000550.3(TYRP1):c.415G>A (p.Glu139Lys)
|
rs201789348
|
0.00006
|
NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter)
|
rs934287314
|
0.00006
|
NM_001010867.4(IBA57):c.679+3A>G
|
rs754620334
|
0.00006
|
NM_001031727.4(MRI1):c.629G>A (p.Arg210Gln)
|
rs141094096
|
0.00006
|
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu)
|
rs143353451
|
0.00006
|
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp)
|
rs149988492
|
0.00006
|
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg)
|
rs587784543
|
0.00006
|
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met)
|
rs187885782
|
0.00006
|
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)
|
rs121908235
|
0.00006
|
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met)
|
rs199422213
|
0.00006
|
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)
|
rs563762318
|
0.00006
|
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)
|
rs772888249
|
0.00006
|
NM_001164508.2(NEB):c.23742+2T>C
|
rs545937015
|
0.00006
|
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)
|
rs374434303
|
0.00006
|
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro)
|
rs140102105
|
0.00006
|
NM_001256545.2(MEGF10):c.2857-2A>G
|
rs199750143
|
0.00006
|
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His)
|
rs199663911
|
0.00006
|
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn)
|
rs576904726
|
0.00006
|
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)
|
rs368282893
|
0.00006
|
NM_001267550.2(TTN):c.33742+1G>T
|
rs772114165
|
0.00006
|
NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter)
|
rs1266298136
|
0.00006
|
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg)
|
rs117830543
|
0.00006
|
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter)
|
rs147622852
|
0.00006
|
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)
|
rs200334114
|
0.00006
|
NM_001360.3(DHCR7):c.92G>A (p.Arg31His)
|
rs370307688
|
0.00006
|
NM_001366385.1(CARD14):c.681T>G (p.Tyr227Ter)
|
rs369755459
|
0.00006
|
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His)
|
rs770380730
|
0.00006
|
NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile)
|
rs63750869
|
0.00006
|
NM_001379270.1(CNGA1):c.503T>G (p.Ile168Ser)
|
rs373448145
|
0.00006
|
NM_001414.4(EIF2B1):c.252+1G>A
|
rs113994006
|
0.00006
|
NM_001701.4(BAAT):c.761C>T (p.Thr254Met)
|
rs768526453
|
0.00006
|
NM_001848.3(COL6A1):c.717+4A>G
|
rs762867111
|
0.00006
|
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)
|
rs369894731
|
0.00006
|
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg)
|
rs781734780
|
0.00006
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)
|
rs753416225
|
0.00006
|
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)
|
rs104894205
|
0.00006
|
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp)
|
rs778665661
|
0.00006
|
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr)
|
rs141045127
|
0.00006
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
0.00006
|
NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer)
|
rs772570880
|
0.00006
|
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)
|
rs753966526
|
0.00006
|
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg)
|
rs201442000
|
0.00006
|
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr)
|
rs1131691336
|
0.00006
|
NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn)
|
rs780568525
|
0.00006
|
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter)
|
rs143153871
|
0.00006
|
NM_005529.7(HSPG2):c.12353C>T (p.Thr4118Met)
|
rs200150908
|
0.00006
|
NM_005908.4(MANBA):c.1922G>A (p.Arg641His)
|
rs569997475
|
0.00006
|
NM_005993.5(TBCD):c.2701C>T (p.Arg901Cys)
|
rs778041055
|
0.00006
|
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln)
|
rs146670741
|
0.00006
|
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln)
|
rs769369302
|
0.00006
|
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)
|
rs550922200
|
0.00006
|
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys)
|
rs587777178
|
0.00006
|
NM_006996.3(SLC19A2):c.1063A>C (p.Lys355Gln)
|
rs200879349
|
0.00006
|
NM_013339.4(ALG6):c.338G>A (p.Arg113His)
|
rs768372697
|
0.00006
|
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys)
|
rs200151282
|
0.00006
|
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser)
|
rs775057827
|
0.00006
|
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val)
|
rs140873167
|
0.00006
|
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr)
|
rs367857040
|
0.00006
|
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=)
|
rs752659088
|
0.00006
|
NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg)
|
rs777093701
|
0.00006
|
NM_015346.4(ZFYVE26):c.3139+1G>A
|
rs137907310
|
0.00006
|
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)
|
rs149830411
|
0.00006
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
0.00006
|
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp)
|
rs187225056
|
0.00006
|
NM_016222.4(DDX41):c.1016G>A (p.Arg339His)
|
rs774698335
|
0.00006
|
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys)
|
rs191828237
|
0.00006
|
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His)
|
rs141310608
|
0.00006
|
NM_016955.4(SEPSECS):c.388+3A>G
|
rs757504141
|
0.00006
|
NM_017882.3(CLN6):c.278C>T (p.Thr93Met)
|
rs150001589
|
0.00006
|
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys)
|
rs747229909
|
0.00006
|
NM_018006.5(TRMU):c.82+5G>C
|
rs771076163
|
0.00006
|
NM_018109.4(MTPAP):c.1484T>G (p.Leu495Arg)
|
rs1356166646
|
0.00006
|
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val)
|
rs199956627
|
0.00006
|
NM_020297.4(ABCC9):c.4512+711G>A
|
rs72559751
|
0.00006
|
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)
|
rs775295739
|
0.00006
|
NM_020320.5(RARS2):c.1564G>A (p.Val522Ile)
|
rs201386427
|
0.00006
|
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln)
|
rs137852990
|
0.00006
|
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr)
|
rs149390820
|
0.00006
|
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln)
|
rs574017249
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)
|
rs149003934
|
0.00006
|
NM_030773.4(TUBB1):c.35del (p.Cys12fs)
|
rs773248042
|
0.00006
|
NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg)
|
rs190706099
|
0.00006
|
NM_033028.5(BBS4):c.1440dup (p.Leu481fs)
|
rs780269741
|
0.00006
|
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser)
|
rs199588390
|
0.00006
|
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)
|
rs587780255
|
0.00006
|
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu)
|
rs749294509
|
0.00006
|
NM_144773.4(PROKR2):c.1058G>A (p.Arg353His)
|
rs576243101
|
0.00006
|
NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser)
|
rs782056388
|
0.00006
|
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser)
|
rs367579275
|
0.00006
|
NM_152783.5(D2HGDH):c.1243G>A (p.Val415Met)
|
rs371794611
|
0.00006
|
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter)
|
rs201707868
|
0.00006
|
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln)
|
rs138592977
|
0.00006
|
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
|
rs74315398
|
0.00006
|
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg)
|
rs377750405
|
0.00006
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly)
|
rs543697946
|
0.00006
|
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)
|
rs769223754
|
0.00006
|
NM_181507.2(HPS5):c.285-10A>G
|
rs200449378
|
0.00006
|
NM_181789.4(GLDN):c.1178G>A (p.Arg393Lys)
|
rs147954907
|
0.00006
|
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)
|
rs371518124
|
0.00006
|
NM_198076.6(COX20):c.197T>G (p.Phe66Cys)
|
rs147700538
|
0.00006
|
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro)
|
rs150822759
|
0.00006
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)
|
rs539192853
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)
|
rs483353056
|
0.00006
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
NM_000017.4(ACADS):c.1157G>A (p.Arg386His)
|
rs766183395
|
0.00005
|
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser)
|
rs765423779
|
0.00005
|
NM_000022.4(ADA):c.757C>T (p.Arg253Trp)
|
rs201944717
|
0.00005
|
NM_000023.4(SGCA):c.614C>A (p.Pro205His)
|
rs757481230
|
0.00005
|
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly)
|
rs201101343
|
0.00005
|
NM_000053.4(ATP7B):c.1285+5G>T
|
rs370579582
|
0.00005
|
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)
|
rs541208827
|
0.00005
|
NM_000055.4(BCHE):c.166T>A (p.Phe56Ile)
|
rs531738678
|
0.00005
|
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg)
|
rs539765620
|
0.00005
|
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His)
|
rs768326843
|
0.00005
|
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)
|
rs372254398
|
0.00005
|
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)
|
rs144155165
|
0.00005
|
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)
|
rs775606471
|
0.00005
|
NM_000169.3(GLA):c.619T>C (p.Tyr207His)
|
rs372416832
|
0.00005
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00005
|
NM_000235.4(LIPA):c.379C>T (p.Arg127Trp)
|
rs140686447
|
0.00005
|
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met)
|
rs199473434
|
0.00005
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His)
|
rs375675796
|
0.00005
|
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)
|
rs200303340
|
0.00005
|
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp)
|
rs781834630
|
0.00005
|
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His)
|
rs756324342
|
0.00005
|
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)
|
rs121918169
|
0.00005
|
NM_000277.3(PAH):c.350C>T (p.Thr117Ile)
|
rs281865439
|
0.00005
|
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)
|
rs140014925
|
0.00005
|
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)
|
rs749720760
|
0.00005
|
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)
|
rs386833646
|
0.00005
|
NM_000335.5(SCN5A):c.4456A>C (p.Met1486Leu)
|
rs199473258
|
0.00005
|
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)
|
rs61748559
|
0.00005
|
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro)
|
rs62645908
|
0.00005
|
NM_000431.4(MVK):c.1139A>G (p.His380Arg)
|
rs104895324
|
0.00005
|
NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser)
|
rs750834241
|
0.00005
|
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
|
rs111033242
|
0.00005
|
NM_000486.6(AQP2):c.782C>T (p.Ser261Leu)
|
rs376000406
|
0.00005
|
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)
|
rs397508553
|
0.00005
|
NM_000532.5(PCCB):c.1127G>A (p.Arg376His)
|
rs142982097
|
0.00005
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)
|
rs746538672
|
0.00005
|
NM_000540.3(RYR1):c.6418C>T (p.Arg2140Trp)
|
rs750275456
|
0.00005
|
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp)
|
rs61733615
|
0.00005
|
NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His)
|
rs759208930
|
0.00005
|
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)
|
rs151247980
|
0.00005
|
NM_001044385.3(TMEM237):c.42+1G>A
|
rs1378726802
|
0.00005
|
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro)
|
rs767384093
|
0.00005
|
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)
|
rs397515398
|
0.00005
|
NM_001103146.3(GIGYF2):c.2378C>T (p.Ala793Val)
|
rs748538823
|
0.00005
|
NM_001127178.3(PIGG):c.2180G>A (p.Gly727Glu)
|
rs201842856
|
0.00005
|
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)
|
rs779241085
|
0.00005
|
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro)
|
rs777735735
|
0.00005
|
NM_001164508.2(NEB):c.23510C>T (p.Thr7837Met)
|
rs370108917
|
0.00005
|
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His)
|
rs397516484
|
0.00005
|
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys)
|
rs778692687
|
0.00005
|
NM_001365536.1(SCN9A):c.902-2A>C
|
rs773824421
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_001457.4(FLNB):c.572C>T (p.Pro191Leu)
|
rs368472521
|
0.00005
|
NM_001611.5(ACP5):c.131C>T (p.Thr44Met)
|
rs369804864
|
0.00005
|
NM_001927.4(DES):c.1371+1G>A
|
rs748323823
|
0.00005
|
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)
|
rs373118250
|
0.00005
|
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys)
|
rs121909066
|
0.00005
|
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter)
|
rs201378067
|
0.00005
|
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)
|
rs193922671
|
0.00005
|
NM_005548.3(KARS1):c.85G>C (p.Ala29Pro)
|
rs369238198
|
0.00005
|
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)
|
rs149850248
|
0.00005
|
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr)
|
rs141672122
|
0.00005
|
NM_006915.3(RP2):c.8G>C (p.Cys3Ser)
|
rs782344765
|
0.00005
|
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)
|
rs201727685
|
0.00005
|
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp)
|
rs376252276
|
0.00005
|
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)
|
rs369947678
|
0.00005
|
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala)
|
rs374860681
|
0.00005
|
NM_017547.4(FOXRED1):c.1051C>T (p.Arg351Cys)
|
rs544236849
|
0.00005
|
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe)
|
rs139207764
|
0.00005
|
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His)
|
rs752300607
|
0.00005
|
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe)
|
rs550485638
|
0.00005
|
NM_021930.6(RINT1):c.1333+1G>A
|
rs375350359
|
0.00005
|
NM_022098.4(XPNPEP3):c.856-2A>G
|
rs149609214
|
0.00005
|
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)
|
rs277995
|
0.00005
|
NM_024596.5(MCPH1):c.1974-2A>G
|
rs541042265
|
0.00005
|
NM_024678.6(NARS2):c.167A>G (p.Gln56Arg)
|
rs201751992
|
0.00005
|
NM_025103.4(IFT74):c.1685-1G>T
|
rs200699377
|
0.00005
|
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)
|
rs767864243
|
0.00005
|
NM_032756.4(HPDL):c.469T>C (p.Trp157Arg)
|
rs567130416
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_052845.4(MMAB):c.562G>A (p.Val188Met)
|
rs768176676
|
0.00005
|
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln)
|
rs771640767
|
0.00005
|
NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys)
|
rs367741588
|
0.00005
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)
|
rs147227819
|
0.00005
|
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)
|
rs767068756
|
0.00005
|
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)
|
rs201296399
|
0.00005
|
NM_176869.3(PPA2):c.476C>T (p.Thr159Met)
|
rs752062224
|
0.00005
|
NM_205850.3(SLC24A5):c.1361T>A (p.Leu454Ter)
|
rs372932575
|
0.00005
|
NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys)
|
rs786205473
|
0.00005
|
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala)
|
rs373057729
|
0.00004
|
NM_000016.6(ACADM):c.388-3T>G
|
rs764942250
|
0.00004
|
NM_000016.6(ACADM):c.388-5G>A
|
rs759254037
|
0.00004
|
NM_000016.6(ACADM):c.50G>A (p.Arg17His)
|
rs17848070
|
0.00004
|
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys)
|
rs149107232
|
0.00004
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)
|
rs771025937
|
0.00004
|
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)
|
rs200117742
|
0.00004
|
NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu)
|
rs778514103
|
0.00004
|
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp)
|
rs536254357
|
0.00004
|
NM_000031.6(ALAD):c.36C>G (p.Phe12Leu)
|
rs121912984
|
0.00004
|
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro)
|
rs755359126
|
0.00004
|
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)
|
rs776814144
|
0.00004
|
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)
|
rs587783318
|
0.00004
|
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)
|
rs756237962
|
0.00004
|
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
|
rs80358978
|
0.00004
|
NM_000063.6(C2):c.1360+1G>A
|
rs140225293
|
0.00004
|
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)
|
rs749863676
|
0.00004
|
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)
|
rs369784333
|
0.00004
|
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu)
|
rs755106884
|
0.00004
|
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile)
|
rs148393161
|
0.00004
|
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)
|
rs184730597
|
0.00004
|
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg)
|
rs370474706
|
0.00004
|
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu)
|
rs548799639
|
0.00004
|
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)
|
rs533297350
|
0.00004
|
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)
|
rs138626345
|
0.00004
|
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)
|
rs373638740
|
0.00004
|
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)
|
rs757275923
|
0.00004
|
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu)
|
rs72549304
|
0.00004
|
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr)
|
rs777425216
|
0.00004
|
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu)
|
rs367619008
|
0.00004
|
NM_000110.4(DPYD):c.703C>T (p.Arg235Trp)
|
rs1801266
|
0.00004
|
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)
|
rs769976586
|
0.00004
|
NM_000128.4(F11):c.400C>T (p.Gln134Ter)
|
rs756908183
|
0.00004
|
NM_000128.4(F11):c.422C>T (p.Thr141Met)
|
rs200593979
|
0.00004
|
NM_000128.4(F11):c.723C>G (p.Phe241Leu)
|
rs281875265
|
0.00004
|
NM_000144.5(FXN):c.389G>T (p.Gly130Val)
|
rs104894107
|
0.00004
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)
|
rs543360994
|
0.00004
|
NM_000153.4(GALC):c.2041G>A (p.Val681Met)
|
rs200607029
|
0.00004
|
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)
|
rs754967473
|
0.00004
|
NM_000155.4(GALT):c.1006A>T (p.Met336Leu)
|
rs111033810
|
0.00004
|
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)
|
rs772802187
|
0.00004
|
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)
|
rs770427750
|
0.00004
|
NM_000183.3(HADHB):c.1115A>T (p.Asp372Val)
|
rs374840025
|
0.00004
|
NM_000187.4(HGD):c.347T>C (p.Leu116Pro)
|
rs569846003
|
0.00004
|
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)
|
rs527236046
|
0.00004
|
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His)
|
rs199473482
|
0.00004
|
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)
|
rs199473435
|
0.00004
|
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys)
|
rs141401803
|
0.00004
|
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val)
|
rs199473012
|
0.00004
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)
|
rs371488302
|
0.00004
|
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)
|
rs397516000
|
0.00004
|
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn)
|
rs397516106
|
0.00004
|
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met)
|
rs139222507
|
0.00004
|
NM_000258.3(MYL3):c.466G>A (p.Val156Met)
|
rs199474707
|
0.00004
|
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)
|
rs371029653
|
0.00004
|
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)
|
rs377670513
|
0.00004
|
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)
|
rs757286784
|
0.00004
|
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu)
|
rs147736385
|
0.00004
|
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys)
|
rs62644467
|
0.00004
|
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)
|
rs1169861687
|
0.00004
|
NM_000287.4(PEX6):c.2663G>A (p.Arg888His)
|
rs267608247
|
0.00004
|
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg)
|
rs750628677
|
0.00004
|
NM_000298.6(PKLR):c.1075C>T (p.Arg359Cys)
|
rs138871700
|
0.00004
|
NM_000317.3(PTS):c.164-672C>T
|
rs1030849527
|
0.00004
|
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn)
|
rs747893076
|
0.00004
|
NM_000335.5(SCN5A):c.3905G>A (p.Arg1302Gln)
|
rs977717858
|
0.00004
|
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg)
|
rs199473260
|
0.00004
|
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His)
|
rs199473283
|
0.00004
|
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter)
|
rs794728940
|
0.00004
|
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter)
|
rs757532106
|
0.00004
|
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val)
|
rs199473561
|
0.00004
|
NM_000335.5(SCN5A):c.739G>C (p.Val247Leu)
|
rs199473078
|
0.00004
|
NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys)
|
rs1044429462
|
0.00004
|
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)
|
rs767635052
|
0.00004
|
NM_000360.4(TH):c.1402G>A (p.Val468Met)
|
rs1800033
|
0.00004
|
NM_000360.4(TH):c.91-818G>A
|
rs753403788
|
0.00004
|
NM_000363.5(TNNI3):c.556C>T (p.Arg186Trp)
|
rs760978512
|
0.00004
|
NM_000369.5(TSHR):c.1556G>A (p.Arg519His)
|
rs780018604
|
0.00004
|
NM_000376.3(VDR):c.218G>A (p.Arg73Gln)
|
rs121909791
|
0.00004
|
NM_000391.4(TPP1):c.225A>G (p.Gln75=)
|
rs368709098
|
0.00004
|
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp)
|
rs553122824
|
0.00004
|
NM_000400.4(ERCC2):c.1377+2T>C
|
rs201505264
|
0.00004
|
NM_000400.4(ERCC2):c.1459C>T (p.Arg487Trp)
|
rs562132292
|
0.00004
|
NM_000400.4(ERCC2):c.183+2T>A
|
rs201127596
|
0.00004
|
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr)
|
rs370454709
|
0.00004
|
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu)
|
rs398123388
|
0.00004
|
NM_000432.4(MYL2):c.403-1G>C
|
rs199474813
|
0.00004
|
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)
|
rs144163298
|
0.00004
|
NM_000436.4(OXCT1):c.1099+2T>C
|
rs202242762
|
0.00004
|
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)
|
rs766206507
|
0.00004
|
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)
|
rs397516431
|
0.00004
|
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile)
|
rs587778695
|
0.00004
|
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)
|
rs61750425
|
0.00004
|
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)
|
rs201958172
|
0.00004
|
NM_000492.4(CFTR):c.3874-4522A>G
|
rs895394181
|
0.00004
|
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)
|
rs148519623
|
0.00004
|
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)
|
rs397508818
|
0.00004
|
NM_000500.9(CYP21A2):c.1226G>A (p.Arg409His)
|
rs1351045983
|
0.00004
|
NM_000501.4(ELN):c.164-2A>C
|
rs782096458
|
0.00004
|
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230
|
0.00004
|
NM_000527.5(LDLR):c.1359-5C>G
|
rs531005522
|
0.00004
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr)
|
rs141155833
|
0.00004
|
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu)
|
rs369943481
|
0.00004
|
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)
|
rs370860696
|
0.00004
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00004
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)
|
rs373240866
|
0.00004
|
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)
|
rs778742647
|
0.00004
|
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)
|
rs1353542774
|
0.00004
|
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)
|
rs745361721
|
0.00004
|
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys)
|
rs145087576
|
0.00004
|
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)
|
rs764262446
|
0.00004
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu)
|
rs149737658
|
0.00004
|
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn)
|
rs749780769
|
0.00004
|
NM_000546.6(TP53):c.91G>A (p.Val31Ile)
|
rs201753350
|
0.00004
|
NM_000550.3(TYRP1):c.1534C>T (p.Gln512Ter)
|
rs752358009
|
0.00004
|
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys)
|
rs188135164
|
0.00004
|
NM_000709.4(BCKDHA):c.996-26A>G
|
rs757986569
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_000939.4(POMC):c.433C>T (p.Arg145Cys)
|
rs756412997
|
0.00004
|
NM_001001548.3(CD36):c.1254+1G>A
|
rs148051111
|
0.00004
|
NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp)
|
rs377381866
|
0.00004
|
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)
|
rs727504509
|
0.00004
|
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)
|
rs543320028
|
0.00004
|
NM_001031710.3(KLHL7):c.793+5G>C
|
rs375718274
|
0.00004
|
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp)
|
rs138249238
|
0.00004
|
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly)
|
rs564822776
|
0.00004
|
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys)
|
rs766910280
|
0.00004
|
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile)
|
rs386833744
|
0.00004
|
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)
|
rs372673338
|
0.00004
|
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met)
|
rs768219929
|
0.00004
|
NM_001083614.2(EARS2):c.667G>A (p.Asp223Asn)
|
rs746087016
|
0.00004
|
NM_001085458.2(CTNND1):c.55C>G (p.Gln19Glu)
|
rs567875341
|
0.00004
|
NM_001123385.2(BCOR):c.4292C>A (p.Ser1431Tyr)
|
rs369432845
|
0.00004
|
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln)
|
rs561858384
|
0.00004
|
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu)
|
rs1161453292
|
0.00004
|
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala)
|
rs755371528
|
0.00004
|
NM_001171.6(ABCC6):c.3704G>A (p.Arg1235Gln)
|
rs138700741
|
0.00004
|
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=)
|
rs121918236
|
0.00004
|
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys)
|
rs561343926
|
0.00004
|
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter)
|
rs780960812
|
0.00004
|
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)
|
rs147538370
|
0.00004
|
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)
|
rs761852278
|
0.00004
|
NM_001243279.3(ACSF3):c.1721dup (p.His574fs)
|
rs768886326
|
0.00004
|
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)
|
rs386834010
|
0.00004
|
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)
|
rs778224699
|
0.00004
|
NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys)
|
rs200276550
|
0.00004
|
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)
|
rs112735431
|
0.00004
|
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met)
|
rs772040483
|
0.00004
|
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter)
|
rs1384922524
|
0.00004
|
NM_001267550.2(TTN):c.40409-1G>A
|
rs1285884266
|
0.00004
|
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=)
|
rs375565646
|
0.00004
|
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His)
|
rs750969198
|
0.00004
|
NM_001271696.3(ABCB7):c.868G>A (p.Gly290Ser)
|
rs1133577
|
0.00004
|
NM_001273.5(CHD4):c.5273A>G (p.Tyr1758Cys)
|
rs777021265
|
0.00004
|
NM_001289808.2(CRYAB):c.32G>A (p.Arg11His)
|
rs782809283
|
0.00004
|
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile)
|
rs199655686
|
0.00004
|
NM_001330078.2(NRXN1):c.772+1032G>A
|
rs771759988
|
0.00004
|
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)
|
rs149399432
|
0.00004
|
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val)
|
rs367841692
|
0.00004
|
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)
|
rs547012639
|
0.00004
|
NM_001363711.2(DUOX2):c.1295G>A (p.Arg432His)
|
rs530736554
|
0.00004
|
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter)
|
rs199589510
|
0.00004
|
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)
|
rs745608560
|
0.00004
|
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs)
|
rs756543273
|
0.00004
|
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His)
|
rs139463637
|
0.00004
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter)
|
rs149808404
|
0.00004
|
NM_001371986.1(UNC80):c.4544C>T (p.Ala1515Val)
|
rs750442854
|
0.00004
|
NM_001377.3(DYNC2H1):c.740G>A (p.Arg247Gln)
|
rs761391585
|
0.00004
|
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp)
|
rs1350329646
|
0.00004
|
NM_001379270.1(CNGA1):c.827G>A (p.Arg276His)
|
rs375412499
|
0.00004
|
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)
|
rs372321643
|
0.00004
|
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys)
|
rs201329683
|
0.00004
|
NM_001414.4(EIF2B1):c.439C>T (p.Arg147Ter)
|
rs370678173
|
0.00004
|
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly)
|
rs143370729
|
0.00004
|
NM_001673.5(ASNS):c.1556G>A (p.Arg519His)
|
rs568570377
|
0.00004
|
NM_001698.3(AUH):c.824C>T (p.Ala275Val)
|
rs748318386
|
0.00004
|
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu)
|
rs372750171
|
0.00004
|
NM_001849.4(COL6A2):c.1288G>A (p.Gly430Ser)
|
rs765430501
|
0.00004
|
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe)
|
rs796052407
|
0.00004
|
NM_001918.5(DBT):c.1018-550A>G
|
rs796052135
|
0.00004
|
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr)
|
rs752137335
|
0.00004
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
NM_002340.6(LSS):c.1054G>A (p.Gly352Arg)
|
rs373046759
|
0.00004
|
NM_002437.5(MPV17):c.263A>T (p.Lys88Met)
|
rs756530281
|
0.00004
|
NM_002439.5(MSH3):c.1341-1G>T
|
rs61754780
|
0.00004
|
NM_002693.3(POLG):c.2264A>C (p.Lys755Thr)
|
rs770438363
|
0.00004
|
NM_002693.3(POLG):c.428C>T (p.Ala143Val)
|
rs796052899
|
0.00004
|
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser)
|
rs751437780
|
0.00004
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
NM_002907.4(RECQL):c.796C>T (p.Gln266Ter)
|
rs572725483
|
0.00004
|
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val)
|
rs766548165
|
0.00004
|
NM_003049.4(SLC10A1):c.132C>A (p.Cys44Ter)
|
rs200809908
|
0.00004
|
NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys)
|
rs386134221
|
0.00004
|
NM_003504.5(CDC45):c.1388C>T (p.Pro463Leu)
|
rs751663397
|
0.00004
|
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter)
|
rs779070661
|
0.00004
|
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys)
|
rs200581623
|
0.00004
|
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp)
|
rs770886420
|
0.00004
|
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln)
|
rs781015830
|
0.00004
|
NM_004208.4(AIFM1):c.556A>G (p.Asn186Asp)
|
rs765298573
|
0.00004
|
NM_004268.5(MED17):c.1597C>T (p.Gln533Ter)
|
rs752341132
|
0.00004
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
NM_004369.4(COL6A3):c.8567+2dup
|
rs776144262
|
0.00004
|
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met)
|
rs766085073
|
0.00004
|
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys)
|
rs762928354
|
0.00004
|
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg)
|
rs780085174
|
0.00004
|
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)
|
rs104894293
|
0.00004
|
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)
|
rs397517057
|
0.00004
|
NM_005276.4(GPD1):c.398C>T (p.Ser133Leu)
|
rs184522376
|
0.00004
|
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)
|
rs148784027
|
0.00004
|
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)
|
rs369328625
|
0.00004
|
NM_005560.6(LAMA5):c.6148C>T (p.Arg2050Cys)
|
rs377244239
|
0.00004
|
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)
|
rs150911354
|
0.00004
|
NM_005912.3(MC4R):c.896C>A (p.Pro299His)
|
rs52804924
|
0.00004
|
NM_005993.5(TBCD):c.2609+5G>A
|
rs367596929
|
0.00004
|
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys)
|
rs765322804
|
0.00004
|
NM_006269.2(RP1):c.121T>C (p.Tyr41His)
|
rs746359399
|
0.00004
|
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter)
|
rs137853944
|
0.00004
|
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu)
|
rs747031778
|
0.00004
|
NM_007262.5(PARK7):c.471_473del (p.Pro158del)
|
rs764877312
|
0.00004
|
NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu)
|
rs559063155
|
0.00004
|
NM_012472.6(DNAAF11):c.2T>A (p.Met1Lys)
|
rs377278570
|
0.00004
|
NM_013339.4(ALG6):c.1A>G (p.Met1Val)
|
rs562934427
|
0.00004
|
NM_014049.5(ACAD9):c.538C>T (p.Leu180Phe)
|
rs146453758
|
0.00004
|
NM_014053.4(FLVCR1):c.847G>C (p.Ala283Pro)
|
rs777525949
|
0.00004
|
NM_014249.4(NR2E3):c.1025T>C (p.Val342Ala)
|
rs757665544
|
0.00004
|
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp)
|
rs369162678
|
0.00004
|
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)
|
rs1277577195
|
0.00004
|
NM_015466.4(PTPN23):c.2680C>T (p.His894Tyr)
|
rs967738491
|
0.00004
|
NM_015466.4(PTPN23):c.2747A>G (p.Gln916Arg)
|
rs770692989
|
0.00004
|
NM_015937.6(PIGT):c.1520G>A (p.Arg507Gln)
|
rs769195904
|
0.00004
|
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp)
|
rs769570290
|
0.00004
|
NM_016239.4(MYO15A):c.10202G>A (p.Arg3401His)
|
rs370278266
|
0.00004
|
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu)
|
rs761879076
|
0.00004
|
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)
|
rs146539065
|
0.00004
|
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser)
|
rs199622789
|
0.00004
|
NM_017827.4(SARS2):c.1347G>A (p.Thr449=)
|
rs200404654
|
0.00004
|
NM_017827.4(SARS2):c.694C>T (p.Arg232Cys)
|
rs201347156
|
0.00004
|
NM_017837.4(PIGV):c.614A>G (p.Asn205Ser)
|
rs766452597
|
0.00004
|
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)
|
rs121908820
|
0.00004
|
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys)
|
rs193204571
|
0.00004
|
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser)
|
rs373386030
|
0.00004
|
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)
|
rs267608687
|
0.00004
|
NM_018192.4(P3H2):c.2004G>C (p.Trp668Cys)
|
rs745507744
|
0.00004
|
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser)
|
rs386834136
|
0.00004
|
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys)
|
rs75939033
|
0.00004
|
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
|
rs768785753
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_020778.5(ALPK3):c.4499+2dup
|
rs753084997
|
0.00004
|
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr)
|
rs78257946
|
0.00004
|
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)
|
rs119103224
|
0.00004
|
NM_022914.2(ACD):c.137delG (p.Arg46Leufs)
|
rs753666055
|
0.00004
|
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro)
|
rs373836524
|
0.00004
|
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter)
|
rs778127887
|
0.00004
|
NM_024407.5(NDUFS7):c.439G>A (p.Val147Met)
|
rs371666279
|
0.00004
|
NM_024678.6(NARS2):c.1291T>C (p.Tyr431His)
|
rs370150532
|
0.00004
|
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)
|
rs398122978
|
0.00004
|
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn)
|
rs200841458
|
0.00004
|
NM_025074.7(FRAS1):c.4843+2T>C
|
rs370018000
|
0.00004
|
NM_025114.4(CEP290):c.4438-3del
|
rs747323414
|
0.00004
|
NM_025215.6(PUS1):c.457G>A (p.Gly153Ser)
|
rs372753711
|
0.00004
|
NM_032316.3(NICN1):c.*2328C>T
|
rs386833677
|
0.00004
|
NM_032634.3(PIGO):c.3069+5G>A
|
rs368953604
|
0.00004
|
NM_032656.4(DHX37):c.278G>A (p.Arg93Gln)
|
rs575837056
|
0.00004
|
NM_032861.4(SERAC1):c.1763del (p.Val588fs)
|
rs770661156
|
0.00004
|
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)
|
rs765547005
|
0.00004
|
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)
|
rs199622112
|
0.00004
|
NM_080473.5(GATA5):c.550G>C (p.Gly184Arg)
|
rs782773387
|
0.00004
|
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)
|
rs121912952
|
0.00004
|
NM_133459.4(CCBE1):c.916-2A>G
|
rs367990953
|
0.00004
|
NM_138691.3(TMC1):c.2027T>A (p.Val676Asp)
|
rs764992976
|
0.00004
|
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)
|
rs758352210
|
0.00004
|
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)
|
rs199531851
|
0.00004
|
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val)
|
rs777976050
|
0.00004
|
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)
|
rs776060304
|
0.00004
|
NM_139076.3(ABRAXAS1):c.577C>T (p.Arg193Ter)
|
rs201698934
|
0.00004
|
NM_144773.4(PROKR2):c.337T>C (p.Tyr113His)
|
rs202203360
|
0.00004
|
NM_144991.3(TSPEAR):c.1697A>G (p.Tyr566Cys)
|
rs782088056
|
0.00004
|
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn)
|
rs753340395
|
0.00004
|
NM_152618.3(BBS12):c.1A>C (p.Met1Leu)
|
rs750366365
|
0.00004
|
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)
|
rs1450190654
|
0.00004
|
NM_152743.4(BRAT1):c.491C>T (p.Ala164Val)
|
rs771600489
|
0.00004
|
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)
|
rs374726751
|
0.00004
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
NM_172201.2(KCNE2):c.209G>A (p.Ser70Asn)
|
rs751931568
|
0.00004
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala)
|
rs772677312
|
0.00004
|
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys)
|
rs185392267
|
0.00004
|
NM_176787.5(PIGN):c.2354G>A (p.Arg785His)
|
rs535563062
|
0.00004
|
NM_176869.3(PPA2):c.379C>T (p.Arg127Cys)
|
rs372302682
|
0.00004
|
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr)
|
rs758493174
|
0.00004
|
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter)
|
rs202086317
|
0.00004
|
NM_198407.2(GHSR):c.611C>A (p.Ala204Glu)
|
rs121917883
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)
|
rs201238640
|
0.00004
|
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)
|
rs149807281
|
0.00004
|
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)
|
rs749889050
|
0.00004
|
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
|
rs765648513
|
0.00004
|
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)
|
rs781027702
|
0.00004
|
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser)
|
rs374211312
|
0.00004
|
NM_000016.6(ACADM):c.216+5G>T
|
rs528788578
|
0.00003
|
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys)
|
rs754359356
|
0.00003
|
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys)
|
rs537072819
|
0.00003
|
NM_000017.4(ACADS):c.815G>A (p.Arg272His)
|
rs374726386
|
0.00003
|
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)
|
rs539029862
|
0.00003
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser)
|
rs118204018
|
0.00003
|
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)
|
rs1085307648
|
0.00003
|
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)
|
rs534647044
|
0.00003
|
NM_000018.4(ACADVL):c.521T>C (p.Val174Ala)
|
rs372684079
|
0.00003
|
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)
|
rs767412638
|
0.00003
|
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)
|
rs777820729
|
0.00003
|
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln)
|
rs779439298
|
0.00003
|
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)
|
rs80338714
|
0.00003
|
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln)
|
rs767271619
|
0.00003
|
NM_000048.4(ASL):c.284G>A (p.Arg95His)
|
rs150244667
|
0.00003
|
NM_000048.4(ASL):c.577C>T (p.Arg193Trp)
|
rs1428029508
|
0.00003
|
NM_000051.4(ATM):c.590G>A (p.Gly197Glu)
|
rs753806542
|
0.00003
|
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu)
|
rs776668666
|
0.00003
|
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)
|
rs786204718
|
0.00003
|
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His)
|
rs778749563
|
0.00003
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
NM_000067.3(CA2):c.472A>G (p.Lys158Glu)
|
rs145667849
|
0.00003
|
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)
|
rs863223434
|
0.00003
|
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly)
|
rs372670098
|
0.00003
|
NM_000079.4(CHRNA1):c.1A>G (p.Met1Val)
|
rs146464862
|
0.00003
|
NM_000079.4(CHRNA1):c.235-323G>A
|
rs750955953
|
0.00003
|
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)
|
rs774843953
|
0.00003
|
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser)
|
rs765181341
|
0.00003
|
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys)
|
rs757328549
|
0.00003
|
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)
|
rs386833497
|
0.00003
|
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln)
|
rs781876217
|
0.00003
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
NM_000137.4(FAH):c.880A>C (p.Thr294Pro)
|
rs370634385
|
0.00003
|
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)
|
rs587782946
|
0.00003
|
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)
|
rs146063839
|
0.00003
|
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
|
rs763301606
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)
|
rs61736895
|
0.00003
|
NM_000152.5(GAA):c.2799+4A>G
|
rs778032599
|
0.00003
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
NM_000154.2(GALK1):c.94G>A (p.Val32Met)
|
rs104894576
|
0.00003
|
NM_000155.4(GALT):c.200G>A (p.Arg67His)
|
rs758430398
|
0.00003
|
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys)
|
rs367543262
|
0.00003
|
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu)
|
rs758447515
|
0.00003
|
NM_000157.4(GBA1):c.637C>T (p.Leu213Phe)
|
rs374591570
|
0.00003
|
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)
|
rs61748906
|
0.00003
|
NM_000158.4(GBE1):c.293T>G (p.Val98Gly)
|
rs775486403
|
0.00003
|
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)
|
rs567564095
|
0.00003
|
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)
|
rs764608975
|
0.00003
|
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu)
|
rs772416503
|
0.00003
|
NM_000215.4(JAK3):c.2680+3G>C
|
rs749481781
|
0.00003
|
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys)
|
rs1402178514
|
0.00003
|
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile)
|
rs747321794
|
0.00003
|
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile)
|
rs199472958
|
0.00003
|
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)
|
rs199473011
|
0.00003
|
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)
|
rs63750952
|
0.00003
|
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)
|
rs759263820
|
0.00003
|
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His)
|
rs371564200
|
0.00003
|
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn)
|
rs375471260
|
0.00003
|
NM_000257.4(MYH7):c.1325G>A (p.Arg442His)
|
rs730880870
|
0.00003
|
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)
|
rs45611033
|
0.00003
|
NM_000257.4(MYH7):c.611G>A (p.Arg204His)
|
rs397516260
|
0.00003
|
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
|
rs111033181
|
0.00003
|
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser)
|
rs201156397
|
0.00003
|
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)
|
rs780296175
|
0.00003
|
NM_000277.3(PAH):c.157C>T (p.Arg53Cys)
|
rs199475619
|
0.00003
|
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)
|
rs62514958
|
0.00003
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_000283.4(PDE6B):c.299G>A (p.Arg100His)
|
rs555600300
|
0.00003
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
NM_000317.3(PTS):c.370G>T (p.Val124Leu)
|
rs150726932
|
0.00003
|
NM_000320.3(QDPR):c.49G>C (p.Gly17Arg)
|
rs757483045
|
0.00003
|
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln)
|
rs554945964
|
0.00003
|
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp)
|
rs759011231
|
0.00003
|
NM_000322.5(PRPH2):c.946T>G (p.Trp316Gly)
|
rs202230698
|
0.00003
|
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His)
|
rs45627438
|
0.00003
|
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln)
|
rs199473211
|
0.00003
|
NM_000335.5(SCN5A):c.393-1C>T
|
rs759235726
|
0.00003
|
NM_000335.5(SCN5A):c.4867G>A (p.Val1623Ile)
|
rs794728888
|
0.00003
|
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val)
|
rs571740084
|
0.00003
|
NM_000350.3(ABCA4):c.2432G>A (p.Arg811His)
|
rs368016280
|
0.00003
|
NM_000350.3(ABCA4):c.3481C>T (p.Arg1161Cys)
|
rs553776104
|
0.00003
|
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)
|
rs138359497
|
0.00003
|
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr)
|
rs766068851
|
0.00003
|
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)
|
rs769279368
|
0.00003
|
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly)
|
rs121918724
|
0.00003
|
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)
|
rs771351747
|
0.00003
|
NM_000360.4(TH):c.90+13G>A
|
rs77140743
|
0.00003
|
NM_000382.3(ALDH3A2):c.1267C>T (p.Arg423Cys)
|
rs370654268
|
0.00003
|
NM_000384.3(APOB):c.7939A>C (p.Thr2647Pro)
|
rs748143305
|
0.00003
|
NM_000388.4(CASR):c.2303G>T (p.Gly768Val)
|
rs201858689
|
0.00003
|
NM_000391.4(TPP1):c.887-18A>G
|
rs935526225
|
0.00003
|
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg)
|
rs151187317
|
0.00003
|
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)
|
rs137852342
|
0.00003
|
NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp)
|
rs551140561
|
0.00003
|
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)
|
rs748057401
|
0.00003
|
NM_000417.3(IL2RA):c.100G>A (p.Ala34Thr)
|
rs773957702
|
0.00003
|
NM_000426.4(LAMA2):c.4311G>A (p.Gln1437=)
|
rs1047569721
|
0.00003
|
NM_000439.5(PCSK1):c.470C>T (p.Thr157Met)
|
rs200462856
|
0.00003
|
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser)
|
rs747636919
|
0.00003
|
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val)
|
rs540008835
|
0.00003
|
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser)
|
rs121918442
|
0.00003
|
NM_000466.3(PEX1):c.721del (p.Ser241fs)
|
rs894289737
|
0.00003
|
NM_000487.6(ARSA):c.677C>T (p.Ala226Val)
|
rs74315468
|
0.00003
|
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)
|
rs74315459
|
0.00003
|
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
|
rs73215912
|
0.00003
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)
|
rs397508463
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_000517.4(HBA2):c.142G>C (p.Asp48His)
|
rs281864834
|
0.00003
|
NM_000518.5(HBB):c.-75G>C
|
rs63750400
|
0.00003
|
NM_000518.5(HBB):c.316-12T>C
|
rs781604042
|
0.00003
|
NM_000518.5(HBB):c.316-7C>A
|
rs34483965
|
0.00003
|
NM_000527.4(LDLR):c.-286C>G
|
rs989307060
|
0.00003
|
NM_000527.5(LDLR):c.-121T>C
|
rs777716188
|
0.00003
|
NM_000527.5(LDLR):c.1060+9C>T
|
rs540073140
|
0.00003
|
NM_000527.5(LDLR):c.1221C>T (p.His407=)
|
rs778424518
|
0.00003
|
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)
|
rs773658037
|
0.00003
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)
|
rs764493597
|
0.00003
|
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn)
|
rs1399689294
|
0.00003
|
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)
|
rs750474121
|
0.00003
|
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)
|
rs774723292
|
0.00003
|
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)
|
rs551747280
|
0.00003
|
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr)
|
rs761954844
|
0.00003
|
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys)
|
rs370760999
|
0.00003
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_000535.7(PMS2):c.2521del (p.Trp841fs)
|
rs886039646
|
0.00003
|
NM_000540.3(RYR1):c.10229C>T (p.Pro3410Leu)
|
rs769196275
|
0.00003
|
NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp)
|
rs140037232
|
0.00003
|
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)
|
rs864309559
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg)
|
rs761224660
|
0.00003
|
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr)
|
rs146306934
|
0.00003
|
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)
|
rs193922810
|
0.00003
|
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly)
|
rs193922822
|
0.00003
|
NM_000540.3(RYR1):c.947G>T (p.Arg316Leu)
|
rs193922761
|
0.00003
|
NM_000540.3(RYR1):c.9811G>A (p.Glu3271Lys)
|
rs773026490
|
0.00003
|
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His)
|
rs771336819
|
0.00003
|
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)
|
rs120074122
|
0.00003
|
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)
|
rs137853245
|
0.00003
|
NM_000546.6(TP53):c.467G>A (p.Arg156His)
|
rs371524413
|
0.00003
|
NM_000548.5(TSC2):c.5260-1G>C
|
rs1057518103
|
0.00003
|
NM_000709.4(BCKDHA):c.288+9C>T
|
rs398123497
|
0.00003
|
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)
|
rs200137189
|
0.00003
|
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr)
|
rs121434304
|
0.00003
|
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser)
|
rs573566419
|
0.00003
|
NM_001041.4(SI):c.2401G>T (p.Glu801Ter)
|
rs200972419
|
0.00003
|
NM_001079866.2(BCS1L):c.269G>A (p.Arg90His)
|
rs747956412
|
0.00003
|
NM_001079866.2(BCS1L):c.551G>A (p.Arg184His)
|
rs779504946
|
0.00003
|
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr)
|
rs201720797
|
0.00003
|
NM_001085458.2(CTNND1):c.1672C>T (p.Leu558Phe)
|
rs775782206
|
0.00003
|
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser)
|
rs370301695
|
0.00003
|
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys)
|
rs146158333
|
0.00003
|
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln)
|
rs747583441
|
0.00003
|
NM_001134363.3(RBM20):c.1867C>T (p.Arg623Trp)
|
rs794729148
|
0.00003
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)
|
rs1015857165
|
0.00003
|
NM_001164508.2(NEB):c.11910+1G>A
|
rs774495973
|
0.00003
|
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala)
|
rs777829351
|
0.00003
|
NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His)
|
rs765965968
|
0.00003
|
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu)
|
rs773916549
|
0.00003
|
NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe)
|
rs369484186
|
0.00003
|
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter)
|
rs886042995
|
0.00003
|
NM_001267550.2(TTN):c.17461+1G>T
|
rs747990127
|
0.00003
|
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)
|
rs727504198
|
0.00003
|
NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn)
|
rs367799017
|
0.00003
|
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs)
|
rs587780494
|
0.00003
|
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter)
|
rs757836789
|
0.00003
|
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)
|
rs483352832
|
0.00003
|
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)
|
rs398123018
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp)
|
rs145043679
|
0.00003
|
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys)
|
rs565893436
|
0.00003
|
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)
|
rs397514427
|
0.00003
|
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)
|
rs397514377
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_001374736.1(DST):c.16609-1G>T
|
rs766657292
|
0.00003
|
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg)
|
rs758727391
|
0.00003
|
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg)
|
rs761765709
|
0.00003
|
NM_001378477.3(NYX):c.1339G>T (p.Gly447Ter)
|
rs764736358
|
0.00003
|
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His)
|
rs907693214
|
0.00003
|
NM_001384474.1(LOXHD1):c.4212+5G>A
|
rs752553552
|
0.00003
|
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn)
|
rs533310477
|
0.00003
|
NM_001384732.1(CPLANE1):c.3857G>A (p.Arg1286His)
|
rs139464953
|
0.00003
|
NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met)
|
rs373704405
|
0.00003
|
NM_001540.5(HSPB1):c.372C>G (p.His124Gln)
|
rs145243219
|
0.00003
|
NM_001770.6(CD19):c.1635del (p.Gly546fs)
|
rs774006181
|
0.00003
|
NM_001814.6(CTSC):c.815G>A (p.Arg272His)
|
rs587777534
|
0.00003
|
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln)
|
rs779824005
|
0.00003
|
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)
|
rs760390497
|
0.00003
|
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg)
|
rs370677625
|
0.00003
|
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp)
|
rs373072443
|
0.00003
|
NM_001851.6(COL9A1):c.876+1G>C
|
rs202232444
|
0.00003
|
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu)
|
rs201407486
|
0.00003
|
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys)
|
rs1392559810
|
0.00003
|
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr)
|
rs548046212
|
0.00003
|
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)
|
rs373534546
|
0.00003
|
NM_002340.6(LSS):c.1194+5G>A
|
rs748758448
|
0.00003
|
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp)
|
rs863224072
|
0.00003
|
NM_002471.4(MYH6):c.1108C>T (p.Arg370Trp)
|
rs753444140
|
0.00003
|
NM_002667.5(PLN):c.26G>A (p.Arg9His)
|
rs754782171
|
0.00003
|
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)
|
rs121918053
|
0.00003
|
NM_002693.3(POLG):c.3383G>A (p.Arg1128His)
|
rs1405268319
|
0.00003
|
NM_002693.3(POLG):c.3526T>C (p.Ser1176Pro)
|
rs763205408
|
0.00003
|
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met)
|
rs397507536
|
0.00003
|
NM_002834.5(PTPN11):c.794G>T (p.Arg265Leu)
|
rs376607329
|
0.00003
|
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr)
|
rs777578399
|
0.00003
|
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val)
|
rs199689597
|
0.00003
|
NM_003060.4(SLC22A5):c.453G>A (p.Val151=)
|
rs386134194
|
0.00003
|
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro)
|
rs121918636
|
0.00003
|
NM_003265.3(TLR3):c.2599C>T (p.Arg867Ter)
|
rs745646456
|
0.00003
|
NM_003331.5(TYK2):c.691C>T (p.Arg231Trp)
|
rs201917359
|
0.00003
|
NM_003742.4(ABCB11):c.3629C>G (p.Thr1210Ser)
|
rs1033490064
|
0.00003
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00003
|
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys)
|
rs886041141
|
0.00003
|
NM_004183.4(BEST1):c.55C>T (p.Arg19Cys)
|
rs765385264
|
0.00003
|
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser)
|
rs386833848
|
0.00003
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg)
|
rs369711837
|
0.00003
|
NM_004553.6(NDUFS6):c.247C>T (p.Arg83Trp)
|
rs863224110
|
0.00003
|
NM_005138.3(SCO2):c.281T>C (p.Leu94Pro)
|
rs138294250
|
0.00003
|
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter)
|
rs754859909
|
0.00003
|
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)
|
rs121908630
|
0.00003
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala)
|
rs375215281
|
0.00003
|
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys)
|
rs368932156
|
0.00003
|
NM_006059.4(LAMC3):c.976+1G>C
|
rs201519274
|
0.00003
|
NM_006517.5(SLC16A2):c.1204A>T (p.Met402Leu)
|
rs773263889
|
0.00003
|
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)
|
rs1390048261
|
0.00003
|
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys)
|
rs755312472
|
0.00003
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)
|
rs587780192
|
0.00003
|
NM_007272.3(CTRC):c.181G>A (p.Gly61Arg)
|
rs769482036
|
0.00003
|
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser)
|
rs202058123
|
0.00003
|
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)
|
rs755933716
|
0.00003
|
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys)
|
rs1057523761
|
0.00003
|
NM_014049.5(ACAD9):c.728C>G (p.Thr243Arg)
|
rs368222811
|
0.00003
|
NM_014297.5(ETHE1):c.476G>A (p.Arg159His)
|
rs768669208
|
0.00003
|
NM_014585.6(SLC40A1):c.289G>A (p.Val97Met)
|
rs886055361
|
0.00003
|
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)
|
rs387906991
|
0.00003
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
0.00003
|
NM_015599.3(PGM3):c.-2-194C>T
|
rs753019951
|
0.00003
|
NM_016034.5(MRPS2):c.413G>A (p.Arg138His)
|
rs758539748
|
0.00003
|
NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu)
|
rs769448704
|
0.00003
|
NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val)
|
rs748872789
|
0.00003
|
NM_016188.5(ACTL6B):c.652T>C (p.Tyr218His)
|
rs747962927
|
0.00003
|
NM_016341.4(PLCE1):c.1223G>T (p.Arg408Ile)
|
rs752029771
|
0.00003
|
NM_017570.5(OPLAH):c.659C>T (p.Ser220Leu)
|
rs781785267
|
0.00003
|
NM_017763.6(RNF43):c.1948C>T (p.Arg650Ter)
|
rs371553160
|
0.00003
|
NM_017775.4(TTC19):c.7C>T (p.Arg3Trp)
|
rs756830714
|
0.00003
|
NM_017807.4(OSGEP):c.973C>T (p.Arg325Trp)
|
rs761839638
|
0.00003
|
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
|
rs764571295
|
0.00003
|
NM_018105.3(THAP1):c.238A>G (p.Ile80Val)
|
rs372080941
|
0.00003
|
NM_018451.5(CENPJ):c.2704C>T (p.Arg902Ter)
|
rs374057641
|
0.00003
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp)
|
rs121908321
|
0.00003
|
NM_020320.5(RARS2):c.1679G>A (p.Arg560His)
|
rs756502974
|
0.00003
|
NM_020461.4(TUBGCP6):c.2066-6A>G
|
rs368765755
|
0.00003
|
NM_020549.5(CHAT):c.620G>A (p.Arg207His)
|
rs764497513
|
0.00003
|
NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr)
|
rs761960636
|
0.00003
|
NM_020774.4(MIB1):c.2305C>T (p.Arg769Ter)
|
rs752243957
|
0.00003
|
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met)
|
rs374911318
|
0.00003
|
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)
|
rs200649783
|
0.00003
|
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys)
|
rs587778659
|
0.00003
|
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val)
|
rs760420191
|
0.00003
|
NM_022168.4(IFIH1):c.2045-1G>A
|
rs748813106
|
0.00003
|
NM_022552.5(DNMT3A):c.1904G>A (p.Arg635Gln)
|
rs751562376
|
0.00003
|
NM_022835.3(PLEKHG2):c.1708G>A (p.Gly570Arg)
|
rs370673772
|
0.00003
|
NM_024417.5(FDXR):c.248C>T (p.Ala83Val)
|
rs756882582
|
0.00003
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu)
|
rs200728983
|
0.00003
|
NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser)
|
rs730881878
|
0.00003
|
NM_024747.6(HPS6):c.1A>G (p.Met1Val)
|
rs763073715
|
0.00003
|
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)
|
rs376306240
|
0.00003
|
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)
|
rs121908178
|
0.00003
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
NM_032380.5(GFM2):c.569G>A (p.Arg190Gln)
|
rs761283105
|
0.00003
|
NM_032520.5(GNPTG):c.742-1G>T
|
rs373976323
|
0.00003
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala)
|
rs752666494
|
0.00003
|
NM_033629.6(TREX1):c.-26-1G>A
|
rs749323787
|
0.00003
|
NM_052859.4(RFT1):c.200G>A (p.Arg67His)
|
rs753527390
|
0.00003
|
NM_080424.4(SP110):c.1984C>T (p.Arg662Ter)
|
rs201059449
|
0.00003
|
NM_080916.3(DGUOK):c.444-11C>G
|
rs536746349
|
0.00003
|
NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp)
|
rs201173498
|
0.00003
|
NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys)
|
rs187584458
|
0.00003
|
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup)
|
rs777828182
|
0.00003
|
NM_138413.4(HOGA1):c.953G>A (p.Arg318His)
|
rs201347931
|
0.00003
|
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn)
|
rs749491943
|
0.00003
|
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys)
|
rs1366295189
|
0.00003
|
NM_144573.4(NEXN):c.1053+1G>A
|
rs397517843
|
0.00003
|
NM_152305.3(POGLUT1):c.814C>T (p.Arg272Ter)
|
rs747897279
|
0.00003
|
NM_153704.6(TMEM67):c.651+2T>G
|
rs199821258
|
0.00003
|
NM_170784.3(MKKS):c.862G>A (p.Val288Ile)
|
rs113032343
|
0.00003
|
NM_172201.2(KCNE2):c.347C>T (p.Ala116Val)
|
rs199473367
|
0.00003
|
NM_174936.4(PCSK9):c.610G>A (p.Asp204Asn)
|
rs793888521
|
0.00003
|
NM_182476.3(COQ6):c.1139A>G (p.Asn380Ser)
|
rs753489572
|
0.00003
|
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)
|
rs398124572
|
0.00003
|
NM_198253.3(TERT):c.193C>G (p.Pro65Ala)
|
rs544215765
|
0.00003
|
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)
|
rs767648174
|
0.00003
|
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)
|
rs727504721
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_206937.2(LIG4):c.2584C>T (p.His862Tyr)
|
rs201176444
|
0.00003
|
NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln)
|
rs151332020
|
0.00003
|
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln)
|
rs749698519
|
0.00003
|
NM_213599.3(ANO5):c.817C>T (p.Leu273Phe)
|
rs772929002
|
0.00003
|
NC_000011.10:g.5227261C>T
|
rs753344875
|
0.00002
|
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)
|
rs757434857
|
0.00002
|
NM_000016.6(ACADM):c.158G>A (p.Arg53His)
|
rs754938068
|
0.00002
|
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)
|
rs758111285
|
0.00002
|
NM_000016.6(ACADM):c.709-13A>G
|
rs746483754
|
0.00002
|
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)
|
rs779458466
|
0.00002
|
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln)
|
rs772014118
|
0.00002
|
NM_000018.4(ACADVL):c.485G>A (p.Arg162His)
|
rs754756970
|
0.00002
|
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg)
|
rs1189763523
|
0.00002
|
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp)
|
rs794727893
|
0.00002
|
NM_000022.4(ADA):c.454C>A (p.Leu152Met)
|
rs121908728
|
0.00002
|
NM_000023.4(SGCA):c.242G>A (p.Arg81His)
|
rs747984529
|
0.00002
|
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)
|
rs1569541120
|
0.00002
|
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)
|
rs118203941
|
0.00002
|
NM_000046.5(ARSB):c.305G>A (p.Arg102His)
|
rs759356342
|
0.00002
|
NM_000049.4(ASPA):c.237-2A>T
|
rs780936696
|
0.00002
|
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys)
|
rs755009196
|
0.00002
|
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val)
|
rs1555291801
|
0.00002
|
NM_000053.4(ATP7B):c.2575+5G>C
|
rs551030054
|
0.00002
|
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala)
|
rs777791532
|
0.00002
|
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val)
|
rs749085322
|
0.00002
|
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu)
|
rs756718353
|
0.00002
|
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp)
|
rs749626601
|
0.00002
|
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter)
|
rs760485585
|
0.00002
|
NM_000069.3(CACNA1S):c.1948+1G>A
|
rs745712829
|
0.00002
|
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys)
|
rs371784007
|
0.00002
|
NM_000071.3(CBS):c.301C>G (p.Leu101Val)
|
rs369644531
|
0.00002
|
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)
|
rs372635387
|
0.00002
|
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)
|
rs534253913
|
0.00002
|
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)
|
rs757341933
|
0.00002
|
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val)
|
rs121912827
|
0.00002
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser)
|
rs762139460
|
0.00002
|
NM_000094.4(COL7A1):c.2710G>T (p.Gly904Cys)
|
rs781144604
|
0.00002
|
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His)
|
rs756258247
|
0.00002
|
NM_000096.4(CP):c.583G>A (p.Gly195Arg)
|
rs750451693
|
0.00002
|
NM_000128.4(F11):c.325G>A (p.Ala109Thr)
|
rs768474112
|
0.00002
|
NM_000130.5(F5):c.1321C>T (p.Arg441Cys)
|
rs747006175
|
0.00002
|
NM_000132.4(F8):c.1748A>G (p.Asn583Ser)
|
rs782657516
|
0.00002
|
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)
|
rs142833057
|
0.00002
|
NM_000137.4(FAH):c.696C>T (p.Asn232=)
|
rs533540262
|
0.00002
|
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)
|
rs1156984408
|
0.00002
|
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)
|
rs779490973
|
0.00002
|
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg)
|
rs1413737899
|
0.00002
|
NM_000143.4(FH):c.2T>G (p.Met1Arg)
|
rs201261794
|
0.00002
|
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)
|
rs1250172816
|
0.00002
|
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys)
|
rs771213237
|
0.00002
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
|
rs1278340100
|
0.00002
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
NM_000152.5(GAA):c.460C>T (p.Arg154Cys)
|
rs539841659
|
0.00002
|
NM_000152.5(GAA):c.858G>A (p.Thr286=)
|
rs201056962
|
0.00002
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
NM_000154.2(GALK1):c.863C>T (p.Thr288Met)
|
rs759284637
|
0.00002
|
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)
|
rs409652
|
0.00002
|
NM_000157.4(GBA1):c.901C>T (p.Arg301Cys)
|
rs374117599
|
0.00002
|
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)
|
rs933624223
|
0.00002
|
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)
|
rs1131692030
|
0.00002
|
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)
|
rs779315456
|
0.00002
|
NM_000163.5(GHR):c.1802_1803del (p.Val601fs)
|
rs777688795
|
0.00002
|
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)
|
rs727503950
|
0.00002
|
NM_000170.3(GLDC):c.445C>T (p.Arg149Trp)
|
rs183024300
|
0.00002
|
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)
|
rs41295270
|
0.00002
|
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)
|
rs774393243
|
0.00002
|
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp)
|
rs1240187200
|
0.00002
|
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp)
|
rs764039230
|
0.00002
|
NM_000202.8(IDS):c.1478G>A (p.Arg493His)
|
rs782347729
|
0.00002
|
NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu)
|
rs776710796
|
0.00002
|
NM_000212.3(ITGB3):c.187C>T (p.Arg63Cys)
|
rs199866795
|
0.00002
|
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)
|
rs17221854
|
0.00002
|
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr)
|
rs199472813
|
0.00002
|
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys)
|
rs199472737
|
0.00002
|
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)
|
rs120074187
|
0.00002
|
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe)
|
rs762412447
|
0.00002
|
NM_000235.4(LIPA):c.256C>T (p.His86Tyr)
|
rs749180806
|
0.00002
|
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr)
|
rs199473035
|
0.00002
|
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys)
|
rs1242741686
|
0.00002
|
NM_000256.3(MYBPC3):c.2534G>A (p.Arg845His)
|
rs730880568
|
0.00002
|
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys)
|
rs397515999
|
0.00002
|
NM_000257.4(MYH7):c.1193G>A (p.Gly398Glu)
|
rs730880158
|
0.00002
|
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)
|
rs397516142
|
0.00002
|
NM_000257.4(MYH7):c.2420G>A (p.Arg807His)
|
rs141414377
|
0.00002
|
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln)
|
rs797045097
|
0.00002
|
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser)
|
rs369940645
|
0.00002
|
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met)
|
rs372381770
|
0.00002
|
NM_000257.4(MYH7):c.706G>A (p.Val236Ile)
|
rs397516261
|
0.00002
|
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)
|
rs730880923
|
0.00002
|
NM_000257.4(MYH7):c.958G>A (p.Val320Met)
|
rs376897125
|
0.00002
|
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu)
|
rs369458838
|
0.00002
|
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile)
|
rs749140168
|
0.00002
|
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)
|
rs781065429
|
0.00002
|
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys)
|
rs202140203
|
0.00002
|
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln)
|
rs120074132
|
0.00002
|
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)
|
rs758829443
|
0.00002
|
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu)
|
rs745573222
|
0.00002
|
NM_000277.3(PAH):c.1136T>C (p.Val379Ala)
|
rs746203167
|
0.00002
|
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)
|
rs773526027
|
0.00002
|
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)
|
rs539743701
|
0.00002
|
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)
|
rs760766981
|
0.00002
|
NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu)
|
rs746197812
|
0.00002
|
NM_000303.3(PMM2):c.447+5G>A
|
rs367852554
|
0.00002
|
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)
|
rs386833640
|
0.00002
|
NM_000313.4(PROS1):c.233C>T (p.Thr78Met)
|
rs6122
|
0.00002
|
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)
|
rs779681799
|
0.00002
|
NM_000322.5(PRPH2):c.454A>G (p.Met152Val)
|
rs146703538
|
0.00002
|
NM_000322.5(PRPH2):c.464C>T (p.Thr155Ile)
|
rs199572514
|
0.00002
|
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)
|
rs62637004
|
0.00002
|
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val)
|
rs199473266
|
0.00002
|
NM_000335.5(SCN5A):c.612-2A>G
|
rs370438420
|
0.00002
|
NM_000335.5(SCN5A):c.655C>T (p.Arg219Cys)
|
rs762012668
|
0.00002
|
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)
|
rs55732384
|
0.00002
|
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)
|
rs777415466
|
0.00002
|
NM_000350.3(ABCA4):c.587C>T (p.Pro196Leu)
|
rs769176363
|
0.00002
|
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)
|
rs764349043
|
0.00002
|
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp)
|
rs771820315
|
0.00002
|
NM_000360.4(TH):c.787G>C (p.Gly263Arg)
|
rs755536257
|
0.00002
|
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)
|
rs35916840
|
0.00002
|
NM_000396.4(CTSK):c.137G>A (p.Arg46Gln)
|
rs200870056
|
0.00002
|
NM_000400.4(ERCC2):c.2080C>T (p.Pro694Ser)
|
rs764868582
|
0.00002
|
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)
|
rs757926581
|
0.00002
|
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn)
|
rs191468413
|
0.00002
|
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser)
|
rs727504425
|
0.00002
|
NM_000432.4(MYL2):c.184A>T (p.Lys62Ter)
|
rs201728041
|
0.00002
|
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe)
|
rs760040670
|
0.00002
|
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val)
|
rs372875358
|
0.00002
|
NM_000448.3(RAG1):c.1981_1983del (p.Met661del)
|
rs774103837
|
0.00002
|
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp)
|
rs199474676
|
0.00002
|
NM_000463.3(UGT1A1):c.1175C>T (p.Pro392Leu)
|
rs886043066
|
0.00002
|
NM_000465.4(BARD1):c.1569-13C>G
|
rs587780018
|
0.00002
|
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)
|
rs398123408
|
0.00002
|
NM_000478.6(ALPL):c.655A>G (p.Met219Val)
|
rs772432010
|
0.00002
|
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)
|
rs6151411
|
0.00002
|
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg)
|
rs368516826
|
0.00002
|
NM_000492.4(CFTR):c.165-3C>T
|
rs200337193
|
0.00002
|
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)
|
rs397508300
|
0.00002
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys)
|
rs764251434
|
0.00002
|
NM_000500.9(CYP21A2):c.922T>G (p.Leu308Val)
|
rs994764994
|
0.00002
|
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)
|
rs749891007
|
0.00002
|
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)
|
rs894525161
|
0.00002
|
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
|
rs760892654
|
0.00002
|
NM_000521.4(HEXB):c.1417+5G>A
|
rs763517499
|
0.00002
|
NM_000527.4(LDLR):c.-139C>G
|
rs879254371
|
0.00002
|
NM_000527.4(LDLR):c.-153C>T
|
rs879254366
|
0.00002
|
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)
|
rs149227308
|
0.00002
|
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu)
|
rs749780672
|
0.00002
|
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)
|
rs755154048
|
0.00002
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr)
|
rs774730452
|
0.00002
|
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser)
|
rs730882082
|
0.00002
|
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg)
|
rs864621993
|
0.00002
|
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)
|
rs768233248
|
0.00002
|
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)
|
rs780837200
|
0.00002
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)
|
rs763112609
|
0.00002
|
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser)
|
rs766407858
|
0.00002
|
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg)
|
rs759500310
|
0.00002
|
NM_000540.3(RYR1):c.2045G>A (p.Arg682Gln)
|
rs372513400
|
0.00002
|
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys)
|
rs746904839
|
0.00002
|
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)
|
rs146407179
|
0.00002
|
NM_000540.3(RYR1):c.5920C>T (p.Arg1974Trp)
|
rs779733902
|
0.00002
|
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)
|
rs398123473
|
0.00002
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)
|
rs544339193
|
0.00002
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)
|
rs774637975
|
0.00002
|
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)
|
rs104893831
|
0.00002
|
NM_000553.6(WRN):c.3460-7T>A
|
rs1334937558
|
0.00002
|
NM_000554.6(CRX):c.268C>T (p.Arg90Trp)
|
rs104894673
|
0.00002
|
NM_000666.3(ACY1):c.1132C>T (p.Arg378Trp)
|
rs148346337
|
0.00002
|
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)
|
rs942815730
|
0.00002
|
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)
|
rs145901144
|
0.00002
|
NM_000821.7(GGCX):c.2110C>T (p.Arg704Ter)
|
rs772336725
|
0.00002
|
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)
|
rs199983136
|
0.00002
|
NM_001001548.3(CD36):c.220C>T (p.Gln74Ter)
|
rs545489204
|
0.00002
|
NM_001004334.4(GPR179):c.349G>A (p.Asp117Asn)
|
rs776996552
|
0.00002
|
NM_001012339.3(DNAJC21):c.983+1G>A
|
rs368148362
|
0.00002
|
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)
|
rs104894187
|
0.00002
|
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)
|
rs730881151
|
0.00002
|
NM_001025356.3(ANO6):c.1880+1G>A
|
rs371269172
|
0.00002
|
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser)
|
rs144064367
|
0.00002
|
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val)
|
rs869025513
|
0.00002
|
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)
|
rs765893479
|
0.00002
|
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile)
|
rs199474755
|
0.00002
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
NM_001077365.2(POMT1):c.1698+1G>A
|
rs763586263
|
0.00002
|
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)
|
rs119464998
|
0.00002
|
NM_001079866.2(BCS1L):c.-50+405A>G
|
rs898301590
|
0.00002
|
NM_001083614.2(EARS2):c.1394T>C (p.Leu465Pro)
|
rs759857078
|
0.00002
|
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu)
|
rs778585043
|
0.00002
|
NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp)
|
rs781030242
|
0.00002
|
NM_001128126.3(AP4S1):c.295-3C>A
|
rs185246578
|
0.00002
|
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu)
|
rs773837400
|
0.00002
|
NM_001134363.3(RBM20):c.1338-1G>T
|
rs1265727354
|
0.00002
|
NM_001142800.2(EYS):c.-448+5G>A
|
rs1175129177
|
0.00002
|
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)
|
rs748838955
|
0.00002
|
NM_001171.6(ABCC6):c.3883-6G>A
|
rs72664214
|
0.00002
|
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val)
|
rs267607105
|
0.00002
|
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys)
|
rs750421791
|
0.00002
|
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)
|
rs747538224
|
0.00002
|
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys)
|
rs749809456
|
0.00002
|
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln)
|
rs149705131
|
0.00002
|
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys)
|
rs749798053
|
0.00002
|
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu)
|
rs727504491
|
0.00002
|
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His)
|
rs760107623
|
0.00002
|
NM_001267550.2(TTN):c.107628del (p.Asn35876fs)
|
rs766624923
|
0.00002
|
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter)
|
rs746721983
|
0.00002
|
NM_001267550.2(TTN):c.39115A>C (p.Thr13039Pro)
|
rs766921440
|
0.00002
|
NM_001267550.2(TTN):c.52406-2A>C
|
rs753798236
|
0.00002
|
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly)
|
rs727504490
|
0.00002
|
NM_001267550.2(TTN):c.7057+2dup
|
rs765019023
|
0.00002
|
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter)
|
rs1179247052
|
0.00002
|
NM_001273.5(CHD4):c.1481C>T (p.Thr494Met)
|
rs375234607
|
0.00002
|
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln)
|
rs754142863
|
0.00002
|
NM_001289808.2(CRYAB):c.34C>T (p.Arg12Cys)
|
rs375933774
|
0.00002
|
NM_001297.5(CNGB1):c.1A>T (p.Met1Leu)
|
rs745636376
|
0.00002
|
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg)
|
rs750247691
|
0.00002
|
NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln)
|
rs775034584
|
0.00002
|
NM_001360.3(DHCR7):c.321G>C (p.Gln107His)
|
rs104886040
|
0.00002
|
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp)
|
rs775773057
|
0.00002
|
NM_001364171.2(ODAD1):c.707C>T (p.Ala236Val)
|
rs374990723
|
0.00002
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_001371904.1(APOA5):c.913C>T (p.Gln305Ter)
|
rs1403296082
|
0.00002
|
NM_001377.3(DYNC2H1):c.11312C>T (p.Ala3771Val)
|
rs760635983
|
0.00002
|
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met)
|
rs751030969
|
0.00002
|
NM_001379500.1(COL18A1):c.3028G>A (p.Gly1010Ser)
|
rs1057518766
|
0.00002
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
NM_001384732.1(CPLANE1):c.4634G>A (p.Arg1545His)
|
rs765457523
|
0.00002
|
NM_001386795.1(DTNA):c.177A>G (p.Ile59Met)
|
rs1057518968
|
0.00002
|
NM_001673.5(ASNS):c.728T>C (p.Val243Ala)
|
rs148111963
|
0.00002
|
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg)
|
rs752009614
|
0.00002
|
NM_001927.4(DES):c.1288+1G>A
|
rs112224037
|
0.00002
|
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)
|
rs104894678
|
0.00002
|
NM_002225.5(IVD):c.-8T>C
|
rs566691073
|
0.00002
|
NM_002225.5(IVD):c.-9A>T
|
rs373594717
|
0.00002
|
NM_002225.5(IVD):c.596G>T (p.Gly199Val)
|
rs121434285
|
0.00002
|
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
|
rs568885234
|
0.00002
|
NM_002296.4(LBR):c.1535G>A (p.Arg512Gln)
|
rs754049402
|
0.00002
|
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter)
|
rs1057516045
|
0.00002
|
NM_002296.4(LBR):c.1756C>T (p.Arg586Cys)
|
rs199675363
|
0.00002
|
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser)
|
rs765290711
|
0.00002
|
NM_002437.5(MPV17):c.376-9T>G
|
rs368900406
|
0.00002
|
NM_002528.7(NTHL1):c.791+1G>A
|
rs374616565
|
0.00002
|
NM_002617.4(PEX10):c.868C>G (p.His290Asp)
|
rs61752094
|
0.00002
|
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp)
|
rs775651976
|
0.00002
|
NM_002662.5(PLD1):c.2543+1G>T
|
rs779667018
|
0.00002
|
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)
|
rs199759055
|
0.00002
|
NM_002693.3(POLG):c.1250+5G>T
|
rs751221993
|
0.00002
|
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp)
|
rs556925652
|
0.00002
|
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)
|
rs367610201
|
0.00002
|
NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser)
|
rs548076633
|
0.00002
|
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)
|
rs121434582
|
0.00002
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu)
|
rs201372601
|
0.00002
|
NM_003059.3(SLC22A4):c.338G>A (p.Cys113Tyr)
|
rs768484124
|
0.00002
|
NM_003322.6(TULP1):c.1063G>A (p.Asp355Asn)
|
rs1085307806
|
0.00002
|
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln)
|
rs770045008
|
0.00002
|
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter)
|
rs1291760879
|
0.00002
|
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp)
|
rs763526610
|
0.00002
|
NM_003846.3(PEX11B):c.361C>T (p.Gln121Ter)
|
rs782365743
|
0.00002
|
NM_003849.4(SUCLG1):c.825+1G>A
|
rs750388794
|
0.00002
|
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg)
|
rs757212984
|
0.00002
|
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys)
|
rs111033203
|
0.00002
|
NM_004044.7(ATIC):c.1277A>G (p.Lys426Arg)
|
rs121434478
|
0.00002
|
NM_004183.4(BEST1):c.302C>T (p.Pro101Leu)
|
rs374517178
|
0.00002
|
NM_004482.4(GALNT3):c.485G>A (p.Arg162Gln)
|
rs766717305
|
0.00002
|
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly)
|
rs755254230
|
0.00002
|
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr)
|
rs386833933
|
0.00002
|
NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln)
|
rs531148057
|
0.00002
|
NM_004826.4(ECEL1):c.1507-9G>A
|
rs797045548
|
0.00002
|
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)
|
rs727503326
|
0.00002
|
NM_005051.3(QARS1):c.1570C>T (p.Arg524Trp)
|
rs774980346
|
0.00002
|
NM_005247.4(FGF3):c.166C>T (p.Leu56Phe)
|
rs782324453
|
0.00002
|
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala)
|
rs200856070
|
0.00002
|
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)
|
rs776384541
|
0.00002
|
NM_005548.3(KARS1):c.690A>T (p.Arg230Ser)
|
rs1370913867
|
0.00002
|
NM_005560.6(LAMA5):c.6101A>G (p.Asp2034Gly)
|
rs773956500
|
0.00002
|
NM_005560.6(LAMA5):c.7975C>T (p.Arg2659Trp)
|
rs201012962
|
0.00002
|
NM_005591.4(MRE11):c.77T>C (p.Met26Thr)
|
rs372068015
|
0.00002
|
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)
|
rs200038732
|
0.00002
|
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)
|
rs780375860
|
0.00002
|
NM_005908.4(MANBA):c.378+1G>A
|
rs142029636
|
0.00002
|
NM_006019.4(TCIRG1):c.117+1G>A
|
rs377303800
|
0.00002
|
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter)
|
rs754982151
|
0.00002
|
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)
|
rs137853100
|
0.00002
|
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp)
|
rs146918863
|
0.00002
|
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe)
|
rs143960270
|
0.00002
|
NM_006623.4(PHGDH):c.374C>T (p.Thr125Met)
|
rs764618040
|
0.00002
|
NM_006767.4(LZTR1):c.2463dup (p.Asp822fs)
|
rs781251567
|
0.00002
|
NM_006929.5(SKIC2):c.757C>T (p.Arg253Ter)
|
rs768503878
|
0.00002
|
NM_007059.4(KPTN):c.863G>A (p.Arg288Gln)
|
rs772378754
|
0.00002
|
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp)
|
rs587782268
|
0.00002
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His)
|
rs781254437
|
0.00002
|
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)
|
rs587780194
|
0.00002
|
NM_007289.4(MME):c.1914+1G>A
|
rs1003705057
|
0.00002
|
NM_007294.4(BRCA1):c.5332+4A>G
|
rs80358166
|
0.00002
|
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln)
|
rs765548847
|
0.00002
|
NM_012203.2(GRHPR):c.866-2A>G
|
rs200316691
|
0.00002
|
NM_012470.4(TNPO3):c.2542del (p.Tyr848fs)
|
rs773574448
|
0.00002
|
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)
|
rs774242915
|
0.00002
|
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln)
|
rs1287725303
|
0.00002
|
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys)
|
rs587780423
|
0.00002
|
NM_014043.4(CHMP2B):c.376C>T (p.Gln126Ter)
|
rs1203007423
|
0.00002
|
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys)
|
rs527236086
|
0.00002
|
NM_014297.5(ETHE1):c.2T>C (p.Met1Thr)
|
rs1470124674
|
0.00002
|
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser)
|
rs758938066
|
0.00002
|
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys)
|
rs113994123
|
0.00002
|
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu)
|
rs772757427
|
0.00002
|
NM_014915.3(ANKRD26):c.1035_1036insT (p.Lys346Ter)
|
rs780613456
|
0.00002
|
NM_014946.4(SPAST):c.631G>A (p.Val211Ile)
|
rs143003434
|
0.00002
|
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter)
|
rs780849567
|
0.00002
|
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser)
|
rs759806045
|
0.00002
|
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys)
|
rs372535542
|
0.00002
|
NM_015047.3(EMC1):c.245C>T (p.Thr82Met)
|
rs869320625
|
0.00002
|
NM_015214.3(DDHD2):c.724C>T (p.Arg242Cys)
|
rs1380005347
|
0.00002
|
NM_015346.4(ZFYVE26):c.3139+2T>G
|
rs767164213
|
0.00002
|
NM_015346.4(ZFYVE26):c.5791-6G>A
|
rs771906344
|
0.00002
|
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys)
|
rs750340477
|
0.00002
|
NM_015693.4(INTU):c.1288C>T (p.Arg430Cys)
|
rs1227833863
|
0.00002
|
NM_015713.5(RRM2B):c.118C>T (p.Arg40Cys)
|
rs776184830
|
0.00002
|
NM_015909.4(NBAS):c.758T>G (p.Val253Gly)
|
rs764164808
|
0.00002
|
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys)
|
rs778531326
|
0.00002
|
NM_016222.4(DDX41):c.653G>A (p.Gly218Asp)
|
rs371460149
|
0.00002
|
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys)
|
rs878854411
|
0.00002
|
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr)
|
rs201067821
|
0.00002
|
NM_016247.4(IMPG2):c.911G>A (p.Gly304Asp)
|
rs749723076
|
0.00002
|
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter)
|
rs780124402
|
0.00002
|
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys)
|
rs376357016
|
0.00002
|
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu)
|
rs376328153
|
0.00002
|
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter)
|
rs774508076
|
0.00002
|
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys)
|
rs773023974
|
0.00002
|
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)
|
rs764622793
|
0.00002
|
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln)
|
rs121918207
|
0.00002
|
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp)
|
rs767713084
|
0.00002
|
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter)
|
rs553697188
|
0.00002
|
NM_018344.6(SLC29A3):c.401G>A (p.Arg134His)
|
rs761175955
|
0.00002
|
NM_019098.5(CNGB3):c.1320+4A>G
|
rs1026427970
|
0.00002
|
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys)
|
rs375909217
|
0.00002
|
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser)
|
rs375244642
|
0.00002
|
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu)
|
rs202083272
|
0.00002
|
NM_020191.4(MRPS22):c.502C>T (p.Arg168Trp)
|
rs544369132
|
0.00002
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val)
|
rs748118737
|
0.00002
|
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys)
|
rs767150990
|
0.00002
|
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu)
|
rs368377980
|
0.00002
|
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro)
|
rs201100272
|
0.00002
|
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln)
|
rs758152252
|
0.00002
|
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg)
|
rs758657734
|
0.00002
|
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys)
|
rs371188899
|
0.00002
|
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn)
|
rs369501114
|
0.00002
|
NM_022132.5(MCCC2):c.129+3A>G
|
rs1352606118
|
0.00002
|
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)
|
rs773774134
|
0.00002
|
NM_022370.4(ROBO3):c.1379A>G (p.Gln460Arg)
|
rs771613910
|
0.00002
|
NM_022552.5(DNMT3A):c.2141C>G (p.Ser714Cys)
|
rs367909007
|
0.00002
|
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)
|
rs1247934219
|
0.00002
|
NM_024417.5(FDXR):c.221C>T (p.Pro74Leu)
|
rs746953590
|
0.00002
|
NM_024422.6(DSC2):c.1938T>G (p.Tyr646Ter)
|
rs397517395
|
0.00002
|
NM_024649.5(BBS1):c.1110+329C>T
|
rs571170303
|
0.00002
|
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)
|
rs193922709
|
0.00002
|
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys)
|
rs367584549
|
0.00002
|
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)
|
rs1460517643
|
0.00002
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_024741.3(ZNF408):c.1699C>T (p.Arg567Ter)
|
rs774627405
|
0.00002
|
NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter)
|
rs369159801
|
0.00002
|
NM_025137.4(SPG11):c.2317-13C>G
|
rs372670941
|
0.00002
|
NM_025216.3(WNT10A):c.311G>A (p.Arg104His)
|
rs374910216
|
0.00002
|
NM_030662.4(MAP2K2):c.528G>A (p.Ala176=)
|
rs767939999
|
0.00002
|
NM_030662.4(MAP2K2):c.787G>A (p.Gly263Arg)
|
rs730880522
|
0.00002
|
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln)
|
rs771028960
|
0.00002
|
NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu)
|
rs762165359
|
0.00002
|
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)
|
rs121918527
|
0.00002
|
NM_031407.7(HUWE1):c.12980G>A (p.Arg4327Gln)
|
rs1290768701
|
0.00002
|
NM_031885.5(BBS2):c.118G>T (p.Val40Phe)
|
rs886043059
|
0.00002
|
NM_032237.5(POMK):c.905T>A (p.Val302Asp)
|
rs199756983
|
0.00002
|
NM_032607.3(CREB3L3):c.718G>A (p.Glu240Lys)
|
rs778428363
|
0.00002
|
NM_033109.5(PNPT1):c.575G>A (p.Arg192Gln)
|
rs772153760
|
0.00002
|
NM_033163.5(FGF8):c.451G>A (p.Gly151Ser)
|
rs606231407
|
0.00002
|
NM_033337.3(CAV3):c.442C>T (p.Arg148Trp)
|
rs730880422
|
0.00002
|
NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys)
|
rs553547069
|
0.00002
|
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)
|
rs766785968
|
0.00002
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
NM_053025.4(MYLK):c.1517-2A>G
|
rs770709606
|
0.00002
|
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter)
|
rs778050996
|
0.00002
|
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg)
|
rs199751308
|
0.00002
|
NM_058216.3(RAD51C):c.571+5G>A
|
rs145779113
|
0.00002
|
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)
|
rs375733283
|
0.00002
|
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys)
|
rs144045461
|
0.00002
|
NM_138370.3(PKDCC):c.785T>G (p.Leu262Arg)
|
rs373676533
|
0.00002
|
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys)
|
rs267606762
|
0.00002
|
NM_138413.4(HOGA1):c.385G>A (p.Gly129Arg)
|
rs778171847
|
0.00002
|
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu)
|
rs191201723
|
0.00002
|
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)
|
rs367970695
|
0.00002
|
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro)
|
rs748196998
|
0.00002
|
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro)
|
rs757148837
|
0.00002
|
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
|
rs893497345
|
0.00002
|
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala)
|
rs890884615
|
0.00002
|
NM_139125.4(MASP1):c.1576C>T (p.Arg526Ter)
|
rs377074720
|
0.00002
|
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His)
|
rs55940927
|
0.00002
|
NM_147196.3(TMIE):c.211+5G>A
|
rs375470385
|
0.00002
|
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)
|
rs759088490
|
0.00002
|
NM_152783.5(D2HGDH):c.1255C>T (p.Arg419Cys)
|
rs769832110
|
0.00002
|
NM_153033.5(KCTD7):c.458G>A (p.Arg153His)
|
rs765235486
|
0.00002
|
NM_170707.4(LMNA):c.658C>T (p.Arg220Cys)
|
rs370134870
|
0.00002
|
NM_173842.3(IL1RN):c.63A>G (p.Ser21=)
|
rs763872895
|
0.00002
|
NM_176787.5(PIGN):c.787C>A (p.His263Asn)
|
rs376934090
|
0.00002
|
NM_194248.3(OTOF):c.5713-2A>G
|
rs111033455
|
0.00002
|
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp)
|
rs368790049
|
0.00002
|
NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp)
|
rs139300604
|
0.00002
|
NM_203290.4(POLR1C):c.322C>T (p.His108Tyr)
|
rs1015942660
|
0.00002
|
NM_206933.4(USH2A):c.15520-1G>A
|
rs767265734
|
0.00002
|
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)
|
rs746071929
|
0.00002
|
NM_206933.4(USH2A):c.5857+2T>C
|
rs397518022
|
0.00002
|
NM_207346.3(TSEN54):c.370-2A>G
|
rs762922379
|
0.00002
|
NR_003051.4(RMRP):n.16G>T
|
rs902313238
|
0.00002
|
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp)
|
rs781424858
|
0.00001
|
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)
|
rs753928772
|
0.00001
|
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg)
|
rs875989854
|
0.00001
|
NM_000016.6(ACADM):c.447G>T (p.Met149Ile)
|
rs121434277
|
0.00001
|
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala)
|
rs745844469
|
0.00001
|
NM_000016.6(ACADM):c.599+5G>A
|
rs875989861
|
0.00001
|
NM_000016.6(ACADM):c.661G>A (p.Gly221Arg)
|
rs753627680
|
0.00001
|
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln)
|
rs373852490
|
0.00001
|
NM_000016.6(ACADM):c.92G>A (p.Arg31His)
|
rs529894272
|
0.00001
|
NM_000017.4(ACADS):c.107dup (p.Thr37fs)
|
rs750941135
|
0.00001
|
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu)
|
rs183161718
|
0.00001
|
NM_000017.4(ACADS):c.1A>G (p.Met1Val)
|
rs1291226969
|
0.00001
|
NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer)
|
rs1346829948
|
0.00001
|
NM_000017.4(ACADS):c.578C>T (p.Ser193Leu)
|
rs369167716
|
0.00001
|
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser)
|
rs746368198
|
0.00001
|
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)
|
rs398123079
|
0.00001
|
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr)
|
rs1567565733
|
0.00001
|
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)
|
rs758928307
|
0.00001
|
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)
|
rs1057523504
|
0.00001
|
NM_000018.4(ACADVL):c.1183-15A>G
|
rs765390290
|
0.00001
|
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)
|
rs149116708
|
0.00001
|
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro)
|
rs1384021857
|
0.00001
|
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)
|
rs765356942
|
0.00001
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)
|
rs766742117
|
0.00001
|
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)
|
rs200366828
|
0.00001
|
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)
|
rs1085307648
|
0.00001
|
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)
|
rs750043368
|
0.00001
|
NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro)
|
rs1416443472
|
0.00001
|
NM_000018.4(ACADVL):c.428G>A (p.Gly143Asp)
|
rs1458941582
|
0.00001
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg)
|
rs763630981
|
0.00001
|
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg)
|
rs748329498
|
0.00001
|
NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly)
|
rs767063791
|
0.00001
|
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)
|
rs749159573
|
0.00001
|
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)
|
rs202216257
|
0.00001
|
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)
|
rs200573371
|
0.00001
|
NM_000018.4(ACADVL):c.899T>G (p.Met300Arg)
|
rs142765230
|
0.00001
|
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)
|
rs377295639
|
0.00001
|
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)
|
rs761086326
|
0.00001
|
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)
|
rs120074148
|
0.00001
|
NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp)
|
rs768072967
|
0.00001
|
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu)
|
rs1283365095
|
0.00001
|
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)
|
rs121908717
|
0.00001
|
NM_000022.4(ADA):c.445C>T (p.Arg149Trp)
|
rs121908733
|
0.00001
|
NM_000022.4(ADA):c.58G>A (p.Gly20Arg)
|
rs121908724
|
0.00001
|
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)
|
rs121908740
|
0.00001
|
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)
|
rs751635016
|
0.00001
|
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)
|
rs759692350
|
0.00001
|
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)
|
rs199810179
|
0.00001
|
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)
|
rs748936034
|
0.00001
|
NM_000023.4(SGCA):c.851G>A (p.Arg284His)
|
rs369359375
|
0.00001
|
NM_000023.4(SGCA):c.957-11C>G
|
rs1391089933
|
0.00001
|
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys)
|
rs774159147
|
0.00001
|
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)
|
rs777821034
|
0.00001
|
NM_000027.4(AGA):c.770C>T (p.Thr257Ile)
|
rs386833434
|
0.00001
|
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn)
|
rs886055840
|
0.00001
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
NM_000033.4(ABCD1):c.1937C>T (p.Ala646Val)
|
rs1258368672
|
0.00001
|
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)
|
rs782293513
|
0.00001
|
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)
|
rs782487174
|
0.00001
|
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)
|
rs782083931
|
0.00001
|
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)
|
rs41281039
|
0.00001
|
NM_000038.6(APC):c.1867C>T (p.Arg623Trp)
|
rs730881238
|
0.00001
|
NM_000038.6(APC):c.3083G>T (p.Ser1028Ile)
|
rs1114167617
|
0.00001
|
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg)
|
rs753829097
|
0.00001
|
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu)
|
rs767219084
|
0.00001
|
NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser)
|
rs1465993279
|
0.00001
|
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr)
|
rs1247117898
|
0.00001
|
NM_000046.5(ARSB):c.275C>T (p.Thr92Met)
|
rs751010538
|
0.00001
|
NM_000046.5(ARSB):c.499G>A (p.Gly167Arg)
|
rs1554087999
|
0.00001
|
NM_000046.5(ARSB):c.900T>A (p.Asp300Glu)
|
rs1280123243
|
0.00001
|
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys)
|
rs886062406
|
0.00001
|
NM_000048.4(ASL):c.1136G>A (p.Arg379His)
|
rs200853731
|
0.00001
|
NM_000048.4(ASL):c.1141G>C (p.Gly381Arg)
|
rs1301059768
|
0.00001
|
NM_000048.4(ASL):c.1154G>A (p.Arg385His)
|
rs746120802
|
0.00001
|
NM_000048.4(ASL):c.281G>A (p.Arg94His)
|
rs777437569
|
0.00001
|
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)
|
rs561367199
|
0.00001
|
NM_000048.4(ASL):c.507G>C (p.Trp169Cys)
|
rs759952363
|
0.00001
|
NM_000048.4(ASL):c.772G>A (p.Glu258Lys)
|
rs909358635
|
0.00001
|
NM_000048.4(ASL):c.890G>A (p.Arg297Gln)
|
rs750431938
|
0.00001
|
NM_000048.4(ASL):c.91G>A (p.Asp31Asn)
|
rs754995756
|
0.00001
|
NM_000049.4(ASPA):c.432G>A (p.Lys144=)
|
rs754087904
|
0.00001
|
NM_000049.4(ASPA):c.539G>T (p.Gly180Val)
|
rs1014551540
|
0.00001
|
NM_000049.4(ASPA):c.634+1G>T
|
rs753871454
|
0.00001
|
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg)
|
rs377217076
|
0.00001
|
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser)
|
rs750505963
|
0.00001
|
NM_000051.4(ATM):c.1695A>G (p.Glu565=)
|
rs780932013
|
0.00001
|
NM_000051.4(ATM):c.1838T>G (p.Val613Gly)
|
rs762018538
|
0.00001
|
NM_000051.4(ATM):c.2376+3A>T
|
rs758083563
|
0.00001
|
NM_000051.4(ATM):c.2467-2A>C
|
rs1555082050
|
0.00001
|
NM_000051.4(ATM):c.2838+4A>G
|
rs876659907
|
0.00001
|
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr)
|
rs876660628
|
0.00001
|
NM_000051.4(ATM):c.3965T>C (p.Leu1322Pro)
|
rs786203306
|
0.00001
|
NM_000051.4(ATM):c.496+3A>G
|
rs876658311
|
0.00001
|
NM_000051.4(ATM):c.5005+1G>T
|
rs1057517427
|
0.00001
|
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro)
|
rs747800057
|
0.00001
|
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)
|
rs587779844
|
0.00001
|
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys)
|
rs876658415
|
0.00001
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000051.4(ATM):c.6807G>A (p.Gln2269=)
|
rs587780638
|
0.00001
|
NM_000051.4(ATM):c.7307+3_7307+4insGTTC
|
rs587782288
|
0.00001
|
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln)
|
rs587782310
|
0.00001
|
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)
|
rs774281788
|
0.00001
|
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg)
|
rs587782692
|
0.00001
|
NM_000051.4(ATM):c.7629+2T>C
|
rs786203059
|
0.00001
|
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys)
|
rs767670019
|
0.00001
|
NM_000051.4(ATM):c.7984G>A (p.Val2662Ile)
|
rs1315805984
|
0.00001
|
NM_000051.4(ATM):c.8105T>G (p.Ile2702Arg)
|
rs876659735
|
0.00001
|
NM_000053.4(ATP7B):c.1946+6T>C
|
rs751287778
|
0.00001
|
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp)
|
rs1394999756
|
0.00001
|
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val)
|
rs769927137
|
0.00001
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
NM_000053.4(ATP7B):c.2355+4A>G
|
rs776572343
|
0.00001
|
NM_000053.4(ATP7B):c.2518C>A (p.Pro840Thr)
|
rs1017756733
|
0.00001
|
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)
|
rs121907994
|
0.00001
|
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)
|
rs774028495
|
0.00001
|
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg)
|
rs193922104
|
0.00001
|
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser)
|
rs750891085
|
0.00001
|
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)
|
rs587783309
|
0.00001
|
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val)
|
rs1206016866
|
0.00001
|
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)
|
rs755817220
|
0.00001
|
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)
|
rs374628199
|
0.00001
|
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)
|
rs767464491
|
0.00001
|
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)
|
rs776300396
|
0.00001
|
NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys)
|
rs776848753
|
0.00001
|
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile)
|
rs121918557
|
0.00001
|
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg)
|
rs115624085
|
0.00001
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg)
|
rs148394770
|
0.00001
|
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg)
|
rs746218707
|
0.00001
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn)
|
rs397507713
|
0.00001
|
NM_000059.4(BRCA2):c.632-3C>G
|
rs568027879
|
0.00001
|
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys)
|
rs431825358
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys)
|
rs80359064
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)
|
rs80359076
|
0.00001
|
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)
|
rs80359082
|
0.00001
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu)
|
rs80338777
|
0.00001
|
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)
|
rs770073633
|
0.00001
|
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)
|
rs1157720606
|
0.00001
|
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)
|
rs201627041
|
0.00001
|
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp)
|
rs774273767
|
0.00001
|
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln)
|
rs988027905
|
0.00001
|
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)
|
rs139836397
|
0.00001
|
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)
|
rs142004418
|
0.00001
|
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)
|
rs372438001
|
0.00001
|
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)
|
rs764370512
|
0.00001
|
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala)
|
rs587780291
|
0.00001
|
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val)
|
rs763719290
|
0.00001
|
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn)
|
rs779701414
|
0.00001
|
NM_000070.3(CAPN3):c.749A>G (p.Lys250Arg)
|
rs779939785
|
0.00001
|
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)
|
rs1555420652
|
0.00001
|
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)
|
rs121964971
|
0.00001
|
NM_000077.5(CDKN2A):c.104G>C (p.Gly35Ala)
|
rs746834149
|
0.00001
|
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)
|
rs779169597
|
0.00001
|
NM_000080.4(CHRNE):c.-96C>T
|
rs748144899
|
0.00001
|
NM_000081.4(LYST):c.7780+2C>T
|
rs760108842
|
0.00001
|
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro)
|
rs1023099235
|
0.00001
|
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His)
|
rs780834658
|
0.00001
|
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu)
|
rs149892539
|
0.00001
|
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp)
|
rs746691295
|
0.00001
|
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu)
|
rs202179484
|
0.00001
|
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val)
|
rs918420911
|
0.00001
|
NM_000090.4(COL3A1):c.4254+3A>G
|
rs376799861
|
0.00001
|
NM_000091.5(COL4A3):c.1270G>T (p.Gly424Cys)
|
rs776919202
|
0.00001
|
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg)
|
rs1457269547
|
0.00001
|
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)
|
rs778034451
|
0.00001
|
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)
|
rs202147112
|
0.00001
|
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg)
|
rs1293137291
|
0.00001
|
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)
|
rs778886174
|
0.00001
|
NM_000091.5(COL4A3):c.4351C>G (p.His1451Asp)
|
rs1291948462
|
0.00001
|
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)
|
rs775373641
|
0.00001
|
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)
|
rs752452590
|
0.00001
|
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln)
|
rs1380878336
|
0.00001
|
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)
|
rs1014839148
|
0.00001
|
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu)
|
rs755649235
|
0.00001
|
NM_000092.5(COL4A4):c.1360G>A (p.Gly454Arg)
|
rs1319908269
|
0.00001
|
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys)
|
rs779930511
|
0.00001
|
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu)
|
rs781660254
|
0.00001
|
NM_000092.5(COL4A4):c.3317G>A (p.Gly1106Asp)
|
rs1559482299
|
0.00001
|
NM_000092.5(COL4A4):c.3452G>C (p.Gly1151Ala)
|
rs371803356
|
0.00001
|
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg)
|
rs775926807
|
0.00001
|
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr)
|
rs1386495377
|
0.00001
|
NM_000093.5(COL5A1):c.2818G>A (p.Gly940Ser)
|
rs1131691874
|
0.00001
|
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)
|
rs777625241
|
0.00001
|
NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr)
|
rs377138881
|
0.00001
|
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu)
|
rs121912845
|
0.00001
|
NM_000094.4(COL7A1):c.6395G>A (p.Gly2132Asp)
|
rs755669902
|
0.00001
|
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu)
|
rs1233025207
|
0.00001
|
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln)
|
rs377182638
|
0.00001
|
NM_000095.3(COMP):c.762+1G>A
|
rs755374221
|
0.00001
|
NM_000097.7(CPOX):c.1171C>T (p.Arg391Trp)
|
rs375923779
|
0.00001
|
NM_000098.3(CPT2):c.1115A>G (p.His372Arg)
|
rs1212235186
|
0.00001
|
NM_000098.3(CPT2):c.461A>G (p.Asn154Ser)
|
rs772269793
|
0.00001
|
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp)
|
rs756839691
|
0.00001
|
NM_000098.3(CPT2):c.674G>A (p.Arg225His)
|
rs794727616
|
0.00001
|
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs)
|
rs1044894207
|
0.00001
|
NM_000110.4(DPYD):c.632A>G (p.Tyr211Cys)
|
rs72549307
|
0.00001
|
NM_000110.4(DPYD):c.704G>A (p.Arg235Gln)
|
rs755416212
|
0.00001
|
NM_000111.3(SLC26A3):c.1136G>C (p.Gly379Ala)
|
rs386833446
|
0.00001
|
NM_000124.4(ERCC6):c.1398-2A>G
|
rs1317145066
|
0.00001
|
NM_000124.4(ERCC6):c.814G>A (p.Glu272Lys)
|
rs768589918
|
0.00001
|
NM_000126.4(ETFA):c.2T>C (p.Met1Thr)
|
rs727503918
|
0.00001
|
NM_000128.4(F11):c.1103G>C (p.Gly368Ala)
|
rs748926718
|
0.00001
|
NM_000128.4(F11):c.1546G>A (p.Val516Met)
|
rs200622588
|
0.00001
|
NM_000128.4(F11):c.1789G>A (p.Glu597Lys)
|
rs281875251
|
0.00001
|
NM_000128.4(F11):c.302A>G (p.Lys101Arg)
|
rs281875272
|
0.00001
|
NM_000128.4(F11):c.599G>A (p.Cys200Tyr)
|
rs757817254
|
0.00001
|
NM_000132.4(F8):c.599A>G (p.Glu200Gly)
|
rs782158761
|
0.00001
|
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)
|
rs200433372
|
0.00001
|
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg)
|
rs782198570
|
0.00001
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
0.00001
|
NM_000135.4(FANCA):c.3G>T (p.Met1Ile)
|
rs1555581729
|
0.00001
|
NM_000137.4(FAH):c.81+2T>A
|
rs772895065
|
0.00001
|
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys)
|
rs752010116
|
0.00001
|
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)
|
rs794728291
|
0.00001
|
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys)
|
rs548296552
|
0.00001
|
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg)
|
rs1267721327
|
0.00001
|
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)
|
rs1439487763
|
0.00001
|
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)
|
rs1406315227
|
0.00001
|
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His)
|
rs373320952
|
0.00001
|
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys)
|
rs76702162
|
0.00001
|
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys)
|
rs779749926
|
0.00001
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys)
|
rs1161109360
|
0.00001
|
NM_000142.5(FGFR3):c.1618A>G (p.Asn540Asp)
|
rs1057519049
|
0.00001
|
NM_000143.4(FH):c.1048C>T (p.Arg350Trp)
|
rs755436052
|
0.00001
|
NM_000143.4(FH):c.151C>T (p.Arg51Trp)
|
rs778678782
|
0.00001
|
NM_000143.4(FH):c.194A>G (p.Asp65Gly)
|
rs145116688
|
0.00001
|
NM_000143.4(FH):c.1A>G (p.Met1Val)
|
rs776806414
|
0.00001
|
NM_000143.4(FH):c.208G>A (p.Ala70Thr)
|
rs587782207
|
0.00001
|
NM_000143.4(FH):c.222A>T (p.Arg74Ser)
|
rs146739519
|
0.00001
|
NM_000143.4(FH):c.405T>G (p.His135Gln)
|
rs1298815479
|
0.00001
|
NM_000143.4(FH):c.817G>A (p.Ala273Thr)
|
rs772190176
|
0.00001
|
NM_000143.4(FH):c.908T>C (p.Leu303Ser)
|
rs201502246
|
0.00001
|
NM_000146.4(FTL):c.1A>G (p.Met1Val)
|
rs139732572
|
0.00001
|
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala)
|
rs515726229
|
0.00001
|
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)
|
rs372486238
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
|
rs748047271
|
0.00001
|
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720
|
0.00001
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
NM_000152.5(GAA):c.1626C>G (p.Pro542=)
|
rs947585663
|
0.00001
|
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)
|
rs753505203
|
0.00001
|
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
|
rs763456921
|
0.00001
|
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
|
rs577042191
|
0.00001
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)
|
rs534192892
|
0.00001
|
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)
|
rs1403885484
|
0.00001
|
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)
|
rs1245412108
|
0.00001
|
NM_000152.5(GAA):c.316C>T (p.Arg106Cys)
|
rs915675670
|
0.00001
|
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
|
rs772607616
|
0.00001
|
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro)
|
rs1200769534
|
0.00001
|
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln)
|
rs887930208
|
0.00001
|
NM_000153.4(GALC):c.1898C>T (p.Thr633Met)
|
rs766762599
|
0.00001
|
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)
|
rs1249991480
|
0.00001
|
NM_000153.4(GALC):c.583-6T>A
|
rs398123176
|
0.00001
|
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)
|
rs1436074042
|
0.00001
|
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys)
|
rs1363497653
|
0.00001
|
NM_000154.2(GALK1):c.841G>A (p.Val281Met)
|
rs753571180
|
0.00001
|
NM_000154.2(GALK1):c.919_921del (p.Met307del)
|
rs1247635972
|
0.00001
|
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys)
|
rs111033806
|
0.00001
|
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)
|
rs111033666
|
0.00001
|
NM_000155.4(GALT):c.590A>G (p.Asp197Gly)
|
rs1554709359
|
0.00001
|
NM_000155.4(GALT):c.593T>C (p.Ile198Thr)
|
rs1483461355
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)
|
rs111033766
|
0.00001
|
NM_000155.4(GALT):c.883C>A (p.Pro295Thr)
|
rs111033783
|
0.00001
|
NM_000155.4(GALT):c.961C>T (p.His321Tyr)
|
rs367543266
|
0.00001
|
NM_000156.6(GAMT):c.224C>T (p.Ala75Val)
|
rs1441030187
|
0.00001
|
NM_000156.6(GAMT):c.391+15G>T
|
rs367567416
|
0.00001
|
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)
|
rs374306700
|
0.00001
|
NM_000157.4(GBA1):c.593C>T (p.Pro198Leu)
|
rs80222298
|
0.00001
|
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys)
|
rs780431086
|
0.00001
|
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg)
|
rs771405370
|
0.00001
|
NM_000158.4(GBE1):c.1444C>G (p.Gln482Glu)
|
rs758786811
|
0.00001
|
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu)
|
rs777589783
|
0.00001
|
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)
|
rs552094593
|
0.00001
|
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)
|
rs137852891
|
0.00001
|
NM_000158.4(GBE1):c.721A>G (p.Met241Val)
|
rs747155575
|
0.00001
|
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)
|
rs137852893
|
0.00001
|
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)
|
rs745360675
|
0.00001
|
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys)
|
rs780976048
|
0.00001
|
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)
|
rs139851890
|
0.00001
|
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg)
|
rs1176799813
|
0.00001
|
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu)
|
rs1449724176
|
0.00001
|
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)
|
rs751742575
|
0.00001
|
NM_000159.4(GCDH):c.852+5G>A
|
rs886054243
|
0.00001
|
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr)
|
rs373203481
|
0.00001
|
NM_000162.5(GCK):c.1364T>A (p.Val455Glu)
|
rs753795627
|
0.00001
|
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)
|
rs759072800
|
0.00001
|
NM_000162.5(GCK):c.605T>C (p.Met202Thr)
|
rs193922311
|
0.00001
|
NM_000162.5(GCK):c.755G>T (p.Cys252Phe)
|
rs1372204515
|
0.00001
|
NM_000162.5(GCK):c.757G>A (p.Val253Ile)
|
rs748964205
|
0.00001
|
NM_000162.5(GCK):c.951C>G (p.His317Gln)
|
rs1379908545
|
0.00001
|
NM_000163.5(GHR):c.504T>G (p.His168Gln)
|
rs121909373
|
0.00001
|
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln)
|
rs962041031
|
0.00001
|
NM_000166.6(GJB1):c.14G>T (p.Gly5Val)
|
rs1064793139
|
0.00001
|
NM_000166.6(GJB1):c.268C>T (p.Leu90Phe)
|
rs1299325261
|
0.00001
|
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)
|
rs768834663
|
0.00001
|
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)
|
rs869312162
|
0.00001
|
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)
|
rs782449839
|
0.00001
|
NM_000169.3(GLA):c.596T>C (p.Val199Ala)
|
rs781871113
|
0.00001
|
NM_000169.3(GLA):c.868A>C (p.Met290Leu)
|
rs375538532
|
0.00001
|
NM_000169.3(GLA):c.870G>C (p.Met290Ile)
|
rs869312438
|
0.00001
|
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)
|
rs150171524
|
0.00001
|
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg)
|
rs765384489
|
0.00001
|
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys)
|
rs386833544
|
0.00001
|
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)
|
rs386833556
|
0.00001
|
NM_000170.3(GLDC):c.2869T>C (p.Ser957Pro)
|
rs386833571
|
0.00001
|
NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp)
|
rs772574530
|
0.00001
|
NM_000178.4(GSS):c.754C>T (p.Arg252Ter)
|
rs749741013
|
0.00001
|
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His)
|
rs779617676
|
0.00001
|
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val)
|
rs182024561
|
0.00001
|
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser)
|
rs587779285
|
0.00001
|
NM_000179.3(MSH6):c.4053_4081dup (p.*1361Leuext*3)
|
rs2104583584
|
0.00001
|
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu)
|
rs878853343
|
0.00001
|
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)
|
rs398123234
|
0.00001
|
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)
|
rs786205673
|
0.00001
|
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)
|
rs200438844
|
0.00001
|
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr)
|
rs137852774
|
0.00001
|
NM_000183.3(HADHB):c.1148C>T (p.Ser383Leu)
|
rs144711755
|
0.00001
|
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)
|
rs780351691
|
0.00001
|
NM_000183.3(HADHB):c.998C>T (p.Pro333Leu)
|
rs770736746
|
0.00001
|
NM_000187.4(HGD):c.473C>T (p.Pro158Leu)
|
rs375396766
|
0.00001
|
NM_000191.3(HMGCL):c.497+4A>G
|
rs568718845
|
0.00001
|
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys)
|
rs121917780
|
0.00001
|
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)
|
rs1057521146
|
0.00001
|
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)
|
rs775112689
|
0.00001
|
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)
|
rs1479831530
|
0.00001
|
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr)
|
rs1329133410
|
0.00001
|
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)
|
rs1046551417
|
0.00001
|
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu)
|
rs745884647
|
0.00001
|
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg)
|
rs398123246
|
0.00001
|
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)
|
rs794727896
|
0.00001
|
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)
|
rs794726878
|
0.00001
|
NM_000204.5(CFI):c.1A>G (p.Met1Val)
|
rs770655669
|
0.00001
|
NM_000204.5(CFI):c.452A>G (p.Asn151Ser)
|
rs772044176
|
0.00001
|
NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp)
|
rs781062792
|
0.00001
|
NM_000215.4(JAK3):c.1767C>T (p.Gly589=)
|
rs193922362
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr)
|
rs368507376
|
0.00001
|
NM_000218.3(KCNQ1):c.1598G>A (p.Arg533Gln)
|
rs574321120
|
0.00001
|
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser)
|
rs780676796
|
0.00001
|
NM_000218.3(KCNQ1):c.575G>A (p.Arg192His)
|
rs199472698
|
0.00001
|
NM_000218.3(KCNQ1):c.683+5G>A
|
rs397508122
|
0.00001
|
NM_000218.3(KCNQ1):c.698T>C (p.Leu233Pro)
|
rs780236727
|
0.00001
|
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)
|
rs199472720
|
0.00001
|
NM_000218.3(KCNQ1):c.827C>T (p.Ser276Phe)
|
rs794728514
|
0.00001
|
NM_000232.5(SGCB):c.265G>A (p.Val89Met)
|
rs762652676
|
0.00001
|
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)
|
rs751427686
|
0.00001
|
NM_000234.3(LIG1):c.2311C>T (p.Arg771Trp)
|
rs121434561
|
0.00001
|
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro)
|
rs772684869
|
0.00001
|
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr)
|
rs199472910
|
0.00001
|
NM_000238.4(KCNH2):c.188C>A (p.Pro63His)
|
rs766379103
|
0.00001
|
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp)
|
rs12720441
|
0.00001
|
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His)
|
rs199473432
|
0.00001
|
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)
|
rs104895128
|
0.00001
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)
|
rs63751596
|
0.00001
|
NM_000249.4(MLH1):c.306G>A (p.Glu102=)
|
rs63751665
|
0.00001
|
NM_000249.4(MLH1):c.492A>C (p.Lys164Asn)
|
rs765014361
|
0.00001
|
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln)
|
rs759263820
|
0.00001
|
NM_000255.4(MMUT):c.295A>G (p.Met99Val)
|
rs1467385866
|
0.00001
|
NM_000255.4(MMUT):c.556A>G (p.Met186Val)
|
rs148331800
|
0.00001
|
NM_000256.3(MYBPC3):c.1457+5G>A
|
rs727503202
|
0.00001
|
NM_000256.3(MYBPC3):c.1685C>T (p.Ala562Val)
|
rs730880694
|
0.00001
|
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile)
|
rs730880551
|
0.00001
|
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=)
|
rs397515957
|
0.00001
|
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn)
|
rs727503185
|
0.00001
|
NM_000256.3(MYBPC3):c.2737+5G>A
|
rs398123280
|
0.00001
|
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr)
|
rs397516053
|
0.00001
|
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile)
|
rs730880868
|
0.00001
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala)
|
rs397516119
|
0.00001
|
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn)
|
rs564101364
|
0.00001
|
NM_000257.4(MYH7):c.1700G>A (p.Arg567His)
|
rs377491278
|
0.00001
|
NM_000257.4(MYH7):c.2573G>A (p.Arg858His)
|
rs2856897
|
0.00001
|
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)
|
rs730880761
|
0.00001
|
NM_000257.4(MYH7):c.3094G>A (p.Asp1032Asn)
|
rs730880765
|
0.00001
|
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)
|
rs397516179
|
0.00001
|
NM_000257.4(MYH7):c.3337G>A (p.Ala1113Thr)
|
rs193922388
|
0.00001
|
NM_000257.4(MYH7):c.343T>C (p.Tyr115His)
|
rs397516183
|
0.00001
|
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys)
|
rs730880785
|
0.00001
|
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys)
|
rs727503246
|
0.00001
|
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)
|
rs727504325
|
0.00001
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
NM_000257.4(MYH7):c.445G>A (p.Glu149Lys)
|
rs773740053
|
0.00001
|
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala)
|
rs397516218
|
0.00001
|
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)
|
rs397516225
|
0.00001
|
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His)
|
rs373514686
|
0.00001
|
NM_000257.4(MYH7):c.550A>C (p.Lys184Gln)
|
rs730880843
|
0.00001
|
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys)
|
rs730880821
|
0.00001
|
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)
|
rs753392652
|
0.00001
|
NM_000257.4(MYH7):c.610C>T (p.Arg204Cys)
|
rs397516259
|
0.00001
|
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)
|
rs45516091
|
0.00001
|
NM_000257.4(MYH7):c.728G>A (p.Arg243His)
|
rs267606910
|
0.00001
|
NM_000258.3(MYL3):c.193C>T (p.Pro65Ser)
|
rs730880960
|
0.00001
|
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)
|
rs104893750
|
0.00001
|
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)
|
rs797044511
|
0.00001
|
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)
|
rs111033219
|
0.00001
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly)
|
rs757460257
|
0.00001
|
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu)
|
rs1478464275
|
0.00001
|
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)
|
rs397516323
|
0.00001
|
NM_000260.4(MYO7A):c.6356A>G (p.Gln2119Arg)
|
rs1029122324
|
0.00001
|
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His)
|
rs1555621454
|
0.00001
|
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)
|
rs1358994052
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000264.5(PTCH1):c.395-1G>A
|
rs368869806
|
0.00001
|
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)
|
rs1555637232
|
0.00001
|
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)
|
rs1555636659
|
0.00001
|
NM_000271.5(NPC1):c.1947+5G>C
|
rs770321568
|
0.00001
|
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn)
|
rs1428599096
|
0.00001
|
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly)
|
rs1057517978
|
0.00001
|
NM_000271.5(NPC1):c.2933G>A (p.Arg978His)
|
rs752728865
|
0.00001
|
NM_000271.5(NPC1):c.2956G>A (p.Gly986Ser)
|
rs1364834942
|
0.00001
|
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly)
|
rs1415921261
|
0.00001
|
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)
|
rs372947142
|
0.00001
|
NM_000271.5(NPC1):c.743G>T (p.Gly248Val)
|
rs1230538609
|
0.00001
|
NM_000274.4(OAT):c.162C>A (p.Asn54Lys)
|
rs121965048
|
0.00001
|
NM_000274.4(OAT):c.416T>G (p.Met139Arg)
|
rs1043163922
|
0.00001
|
NM_000274.4(OAT):c.698A>G (p.Gln233Arg)
|
rs386833615
|
0.00001
|
NM_000275.3(OCA2):c.1045-9T>G
|
rs755604671
|
0.00001
|
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly)
|
rs147816326
|
0.00001
|
NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn)
|
rs1455447337
|
0.00001
|
NM_000275.3(OCA2):c.2079G>A (p.Glu693=)
|
rs1374558186
|
0.00001
|
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg)
|
rs768934658
|
0.00001
|
NM_000277.3(PAH):c.1124A>G (p.Gln375Arg)
|
rs1874694173
|
0.00001
|
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)
|
rs1402168594
|
0.00001
|
NM_000277.3(PAH):c.161T>C (p.Leu54Ser)
|
rs199475677
|
0.00001
|
NM_000277.3(PAH):c.169G>A (p.Glu57Lys)
|
rs140945592
|
0.00001
|
NM_000277.3(PAH):c.212G>A (p.Arg71His)
|
rs62508695
|
0.00001
|
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)
|
rs80297647
|
0.00001
|
NM_000277.3(PAH):c.511G>A (p.Gly171Arg)
|
rs199475613
|
0.00001
|
NM_000277.3(PAH):c.559T>C (p.Trp187Arg)
|
rs62507272
|
0.00001
|
NM_000277.3(PAH):c.712A>C (p.Thr238Pro)
|
rs199475577
|
0.00001
|
NM_000277.3(PAH):c.811C>T (p.His271Tyr)
|
rs62517164
|
0.00001
|
NM_000277.3(PAH):c.828G>A (p.Met276Ile)
|
rs62514954
|
0.00001
|
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)
|
rs937519016
|
0.00001
|
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys)
|
rs999241357
|
0.00001
|
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)
|
rs1387778734
|
0.00001
|
NM_000282.4(PCCA):c.2dup (p.Met1fs)
|
rs1179536678
|
0.00001
|
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro)
|
rs774457925
|
0.00001
|
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)
|
rs778530330
|
0.00001
|
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)
|
rs1444049793
|
0.00001
|
NM_000283.4(PDE6B):c.1712C>T (p.Thr571Met)
|
rs761619791
|
0.00001
|
NM_000283.4(PDE6B):c.1726G>A (p.Gly576Ser)
|
rs753925314
|
0.00001
|
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)
|
rs780521818
|
0.00001
|
NM_000287.4(PEX6):c.1231A>G (p.Met411Val)
|
rs752177240
|
0.00001
|
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)
|
rs267608246
|
0.00001
|
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)
|
rs187131358
|
0.00001
|
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr)
|
rs137852534
|
0.00001
|
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys)
|
rs752961445
|
0.00001
|
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg)
|
rs764220898
|
0.00001
|
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr)
|
rs1358047518
|
0.00001
|
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln)
|
rs768002493
|
0.00001
|
NM_000298.6(PKLR):c.1493G>A (p.Arg498His)
|
rs758327704
|
0.00001
|
NM_000298.6(PKLR):c.187G>A (p.Ala63Thr)
|
rs1165604977
|
0.00001
|
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)
|
rs1032781250
|
0.00001
|
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)
|
rs755402538
|
0.00001
|
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)
|
rs759513930
|
0.00001
|
NM_000303.3(PMM2):c.255G>A (p.Gln85=)
|
rs115344041
|
0.00001
|
NM_000303.3(PMM2):c.28C>T (p.Leu10Phe)
|
rs1215262242
|
0.00001
|
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)
|
rs767831048
|
0.00001
|
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro)
|
rs757040733
|
0.00001
|
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser)
|
rs949271895
|
0.00001
|
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)
|
rs78290141
|
0.00001
|
NM_000306.4(POU1F1):c.143-2A>G
|
rs746709336
|
0.00001
|
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro)
|
rs386833639
|
0.00001
|
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)
|
rs746043871
|
0.00001
|
NM_000312.4(PROC):c.811C>T (p.Arg271Trp)
|
rs767112991
|
0.00001
|
NM_000317.3(PTS):c.347A>G (p.Asp116Gly)
|
rs104894279
|
0.00001
|
NM_000317.3(PTS):c.46C>T (p.Arg16Cys)
|
rs104894274
|
0.00001
|
NM_000317.3(PTS):c.95G>A (p.Ser32Asn)
|
rs374871539
|
0.00001
|
NM_000321.3(RB1):c.1206C>T (p.Ser402=)
|
rs752679968
|
0.00001
|
NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu)
|
rs772861671
|
0.00001
|
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly)
|
rs767471467
|
0.00001
|
NM_000330.4(RS1):c.554C>T (p.Thr185Met)
|
rs61753173
|
0.00001
|
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu)
|
rs121908552
|
0.00001
|
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr)
|
rs1318966106
|
0.00001
|
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn)
|
rs779687673
|
0.00001
|
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=)
|
rs1204915217
|
0.00001
|
NM_000335.5(SCN5A):c.2422C>T (p.Arg808Cys)
|
rs749864465
|
0.00001
|
NM_000335.5(SCN5A):c.2431C>T (p.Arg811Cys)
|
rs794728864
|
0.00001
|
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln)
|
rs199473584
|
0.00001
|
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys)
|
rs199473171
|
0.00001
|
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His)
|
rs199473172
|
0.00001
|
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)
|
rs199473180
|
0.00001
|
NM_000335.5(SCN5A):c.2911C>T (p.Arg971Cys)
|
rs61737825
|
0.00001
|
NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr)
|
rs1373296470
|
0.00001
|
NM_000335.5(SCN5A):c.3647T>G (p.Leu1216Arg)
|
rs794728876
|
0.00001
|
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)
|
rs137854602
|
0.00001
|
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=)
|
rs754221948
|
0.00001
|
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys)
|
rs45514691
|
0.00001
|
NM_000335.5(SCN5A):c.4873C>T (p.Arg1625Cys)
|
rs918933961
|
0.00001
|
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)
|
rs199473286
|
0.00001
|
NM_000335.5(SCN5A):c.5065G>A (p.Asp1689Asn)
|
rs1060499900
|
0.00001
|
NM_000335.5(SCN5A):c.5375T>A (p.Met1792Lys)
|
rs794728897
|
0.00001
|
NM_000335.5(SCN5A):c.5473C>T (p.Arg1825Cys)
|
rs199473635
|
0.00001
|
NM_000335.5(SCN5A):c.5737A>G (p.Arg1913Gly)
|
rs766751878
|
0.00001
|
NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe)
|
rs772258197
|
0.00001
|
NM_000335.5(SCN5A):c.656G>A (p.Arg219His)
|
rs878855296
|
0.00001
|
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln)
|
rs199473071
|
0.00001
|
NM_000335.5(SCN5A):c.680T>C (p.Leu227Pro)
|
rs760011764
|
0.00001
|
NM_000335.5(SCN5A):c.689T>C (p.Ile230Thr)
|
rs199473073
|
0.00001
|
NM_000335.5(SCN5A):c.820G>A (p.Gly274Ser)
|
rs794728852
|
0.00001
|
NM_000350.3(ABCA4):c.1817G>A (p.Gly606Asp)
|
rs147932486
|
0.00001
|
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu)
|
rs1057520211
|
0.00001
|
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)
|
rs575453437
|
0.00001
|
NM_000350.3(ABCA4):c.2042G>A (p.Arg681Gln)
|
rs761380652
|
0.00001
|
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr)
|
rs374410829
|
0.00001
|
NM_000350.3(ABCA4):c.2608C>T (p.Pro870Ser)
|
rs867875828
|
0.00001
|
NM_000350.3(ABCA4):c.2919-10T>C
|
rs886044733
|
0.00001
|
NM_000350.3(ABCA4):c.3005G>A (p.Arg1002Gln)
|
rs752000268
|
0.00001
|
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg)
|
rs775661924
|
0.00001
|
NM_000350.3(ABCA4):c.4124C>T (p.Ala1375Val)
|
rs1267585230
|
0.00001
|
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)
|
rs758835368
|
0.00001
|
NM_000350.3(ABCA4):c.5836-3C>A
|
rs1064793013
|
0.00001
|
NM_000350.3(ABCA4):c.6146A>C (p.Lys2049Thr)
|
rs760481450
|
0.00001
|
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)
|
rs781716640
|
0.00001
|
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro)
|
rs797045206
|
0.00001
|
NM_000352.6(ABCC8):c.2556+1G>A
|
rs749271190
|
0.00001
|
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr)
|
rs1266053680
|
0.00001
|
NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val)
|
rs772094360
|
0.00001
|
NM_000352.6(ABCC8):c.4225A>G (p.Ile1409Val)
|
rs776100468
|
0.00001
|
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys)
|
rs1468762603
|
0.00001
|
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)
|
rs768017509
|
0.00001
|
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)
|
rs1201126343
|
0.00001
|
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln)
|
rs775488556
|
0.00001
|
NM_000353.3(TAT):c.355C>T (p.Arg119Trp)
|
rs758306831
|
0.00001
|
NM_000359.3(TGM1):c.1075G>A (p.Val359Met)
|
rs202037016
|
0.00001
|
NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys)
|
rs147516124
|
0.00001
|
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys)
|
rs201853046
|
0.00001
|
NM_000359.3(TGM1):c.430G>A (p.Gly144Arg)
|
rs778635368
|
0.00001
|
NM_000359.3(TGM1):c.791G>A (p.Arg264Gln)
|
rs781006633
|
0.00001
|
NM_000359.3(TGM1):c.871G>A (p.Gly291Ser)
|
rs1437822062
|
0.00001
|
NM_000360.4(TH):c.2T>C (p.Met1Thr)
|
rs201932766
|
0.00001
|
NM_000360.4(TH):c.604C>T (p.Arg202Cys)
|
rs1021029193
|
0.00001
|
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln)
|
rs727503506
|
0.00001
|
NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp)
|
rs730881071
|
0.00001
|
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn)
|
rs397516348
|
0.00001
|
NM_000363.5(TNNI3):c.493G>T (p.Glu165Ter)
|
rs1057521530
|
0.00001
|
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val)
|
rs727504285
|
0.00001
|
NM_000372.5(TYR):c.149C>T (p.Ser50Leu)
|
rs61753181
|
0.00001
|
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp)
|
rs747941115
|
0.00001
|
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys)
|
rs1231469574
|
0.00001
|
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys)
|
rs745721296
|
0.00001
|
NM_000387.6(SLC25A20):c.536A>G (p.Asp179Gly)
|
rs1205051168
|
0.00001
|
NM_000387.6(SLC25A20):c.824G>A (p.Arg275Gln)
|
rs376342597
|
0.00001
|
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg)
|
rs1064794291
|
0.00001
|
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)
|
rs765380155
|
0.00001
|
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys)
|
rs1035033641
|
0.00001
|
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala)
|
rs756530648
|
0.00001
|
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly)
|
rs1192702664
|
0.00001
|
NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs)
|
rs772673105
|
0.00001
|
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg)
|
rs772811492
|
0.00001
|
NM_000396.4(CTSK):c.235G>A (p.Gly79Arg)
|
rs750609110
|
0.00001
|
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys)
|
rs543277216
|
0.00001
|
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly)
|
rs121965018
|
0.00001
|
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys)
|
rs371546950
|
0.00001
|
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)
|
rs771510541
|
0.00001
|
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln)
|
rs773024366
|
0.00001
|
NM_000419.5(ITGA2B):c.1210+105A>G
|
rs992856733
|
0.00001
|
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg)
|
rs920771326
|
0.00001
|
NM_000426.4(LAMA2):c.3556-13T>A
|
rs775278003
|
0.00001
|
NM_000432.4(MYL2):c.125G>A (p.Gly42Asp)
|
rs863225117
|
0.00001
|
NM_000434.4(NEU1):c.869G>A (p.Arg290Gln)
|
rs758877243
|
0.00001
|
NM_000435.3(NOTCH3):c.2038C>T (p.Arg680Cys)
|
rs1250956327
|
0.00001
|
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys)
|
rs1057519101
|
0.00001
|
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr)
|
rs1266914122
|
0.00001
|
NM_000439.5(PCSK1):c.1625A>G (p.Asp542Gly)
|
rs1327701164
|
0.00001
|
NM_000440.3(PDE6A):c.1620G>A (p.Glu540=)
|
rs727504072
|
0.00001
|
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys)
|
rs148425972
|
0.00001
|
NM_000441.2(SLC26A4):c.1265T>G (p.Val422Gly)
|
rs1057520369
|
0.00001
|
NM_000441.2(SLC26A4):c.1708-1G>A
|
rs759414956
|
0.00001
|
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)
|
rs397516424
|
0.00001
|
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro)
|
rs727504303
|
0.00001
|
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile)
|
rs1481765326
|
0.00001
|
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)
|
rs111033454
|
0.00001
|
NM_000441.2(SLC26A4):c.918+2T>C
|
rs912147281
|
0.00001
|
NM_000443.4(ABCB4):c.1151G>A (p.Gly384Glu)
|
rs886894962
|
0.00001
|
NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala)
|
rs779885518
|
0.00001
|
NM_000443.4(ABCB4):c.3326G>A (p.Arg1109Lys)
|
rs757931203
|
0.00001
|
NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe)
|
rs367855127
|
0.00001
|
NM_000448.3(RAG1):c.1178G>T (p.Gly393Val)
|
rs1554944856
|
0.00001
|
NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp)
|
rs768860215
|
0.00001
|
NM_000454.5(SOD1):c.193T>C (p.Phe65Leu)
|
rs1030039318
|
0.00001
|
NM_000455.5(STK11):c.971C>T (p.Pro324Leu)
|
rs367807476
|
0.00001
|
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg)
|
rs61750407
|
0.00001
|
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)
|
rs121434455
|
0.00001
|
NM_000466.3(PEX1):c.2636T>C (p.Leu879Ser)
|
rs1362906637
|
0.00001
|
NM_000478.6(ALPL):c.1022A>G (p.His341Arg)
|
rs1382219911
|
0.00001
|
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)
|
rs766656419
|
0.00001
|
NM_000478.6(ALPL):c.1444C>A (p.His482Asn)
|
rs780857373
|
0.00001
|
NM_000478.6(ALPL):c.1454C>T (p.Ala485Val)
|
rs886044912
|
0.00001
|
NM_000478.6(ALPL):c.283G>A (p.Val95Met)
|
rs139811782
|
0.00001
|
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys)
|
rs200621180
|
0.00001
|
NM_000481.4(AMT):c.212A>C (p.His71Pro)
|
rs1053797603
|
0.00001
|
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)
|
rs779483959
|
0.00001
|
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)
|
rs866625610
|
0.00001
|
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)
|
rs74315461
|
0.00001
|
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys)
|
rs527640350
|
0.00001
|
NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp)
|
rs768704768
|
0.00001
|
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg)
|
rs397508154
|
0.00001
|
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)
|
rs397508187
|
0.00001
|
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)
|
rs758900656
|
0.00001
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
0.00001
|
NM_000492.4(CFTR):c.1585-9412A>G
|
rs397508229
|
0.00001
|
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)
|
rs773569201
|
0.00001
|
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)
|
rs186089140
|
0.00001
|
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)
|
rs397508375
|
0.00001
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
NM_000492.4(CFTR):c.2679G>T (p.Gly893=)
|
rs397508419
|
0.00001
|
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)
|
rs369521395
|
0.00001
|
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)
|
rs397508436
|
0.00001
|
NM_000492.4(CFTR):c.2846A>T (p.His949Leu)
|
rs397508444
|
0.00001
|
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)
|
rs397508488
|
0.00001
|
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg)
|
rs397508494
|
0.00001
|
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
|
rs186045772
|
0.00001
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)
|
rs121909040
|
0.00001
|
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser)
|
rs397508606
|
0.00001
|
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)
|
rs121909015
|
0.00001
|
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)
|
rs397508674
|
0.00001
|
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser)
|
rs397508692
|
0.00001
|
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)
|
rs397508699
|
0.00001
|
NM_000492.4(CFTR):c.4243-2A>G
|
rs397508705
|
0.00001
|
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)
|
rs397508727
|
0.00001
|
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)
|
rs397508763
|
0.00001
|
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)
|
rs397508804
|
0.00001
|
NM_000492.4(CFTR):c.869+5G>A
|
rs533959068
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)
|
rs1489638195
|
0.00001
|
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)
|
rs267601810
|
0.00001
|
NM_000498.3(CYP11B2):c.541C>T (p.Arg181Trp)
|
rs28931609
|
0.00001
|
NM_000506.5(F2):c.1814_1815del (p.His605fs)
|
rs776618390
|
0.00001
|
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)
|
rs1401175486
|
0.00001
|
NM_000512.5(GALNS):c.1483-15A>G
|
rs1461992033
|
0.00001
|
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr)
|
rs1404888504
|
0.00001
|
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser)
|
rs1303492021
|
0.00001
|
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)
|
rs398123434
|
0.00001
|
NM_000512.5(GALNS):c.281G>A (p.Arg94His)
|
rs727503946
|
0.00001
|
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly)
|
rs1427663367
|
0.00001
|
NM_000512.5(GALNS):c.638C>T (p.Ala213Val)
|
rs770239604
|
0.00001
|
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp)
|
rs775300515
|
0.00001
|
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro)
|
rs41529844
|
0.00001
|
NM_000518.5(HBB):c.-122T>A
|
rs1272414751
|
0.00001
|
NM_000518.5(HBB):c.341T>A (p.Val114Glu)
|
rs34484056
|
0.00001
|
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)
|
rs750727201
|
0.00001
|
NM_000520.6(HEXA):c.536A>G (p.His179Arg)
|
rs747372270
|
0.00001
|
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)
|
rs566580738
|
0.00001
|
NM_000520.6(HEXA):c.972T>A (p.Val324=)
|
rs28942072
|
0.00001
|
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)
|
rs762892362
|
0.00001
|
NM_000521.4(HEXB):c.1614-16_1622dup
|
rs756912360
|
0.00001
|
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)
|
rs938611392
|
0.00001
|
NM_000521.4(HEXB):c.558+5G>A
|
rs892920643
|
0.00001
|
NM_000525.4(KCNJ11):c.130G>A (p.Val44Met)
|
rs1282255458
|
0.00001
|
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met)
|
rs1057518775
|
0.00001
|
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys)
|
rs1174593640
|
0.00001
|
NM_000527.4(LDLR):c.-120C>T
|
rs875989886
|
0.00001
|
NM_000527.5(LDLR):c.1004G>A (p.Gly335Asp)
|
rs869320650
|
0.00001
|
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)
|
rs730882098
|
0.00001
|
NM_000527.5(LDLR):c.1153C>G (p.Leu385Val)
|
rs879254808
|
0.00001
|
NM_000527.5(LDLR):c.1186+5G>C
|
rs879254821
|
0.00001
|
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)
|
rs730882099
|
0.00001
|
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)
|
rs552422789
|
0.00001
|
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)
|
rs748554592
|
0.00001
|
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala)
|
rs779732323
|
0.00001
|
NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro)
|
rs200143634
|
0.00001
|
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys)
|
rs193922568
|
0.00001
|
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)
|
rs730882106
|
0.00001
|
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp)
|
rs878854025
|
0.00001
|
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu)
|
rs879254976
|
0.00001
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00001
|
NM_000527.5(LDLR):c.1845G>A (p.Glu615=)
|
rs879255047
|
0.00001
|
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)
|
rs754536745
|
0.00001
|
NM_000527.5(LDLR):c.190+4A>T
|
rs769446356
|
0.00001
|
NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser)
|
rs764550980
|
0.00001
|
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)
|
rs730882110
|
0.00001
|
NM_000527.5(LDLR):c.1966C>A (p.His656Asn)
|
rs762815611
|
0.00001
|
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro)
|
rs193922570
|
0.00001
|
NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn)
|
rs879255142
|
0.00001
|
NM_000527.5(LDLR):c.299A>T (p.Asp100Val)
|
rs879254460
|
0.00001
|
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg)
|
rs140807148
|
0.00001
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr)
|
rs730882080
|
0.00001
|
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu)
|
rs777321035
|
0.00001
|
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)
|
rs771917370
|
0.00001
|
NM_000527.5(LDLR):c.632A>T (p.His211Leu)
|
rs879254603
|
0.00001
|
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)
|
rs577934998
|
0.00001
|
NM_000527.5(LDLR):c.709C>T (p.Arg237Cys)
|
rs879254657
|
0.00001
|
NM_000527.5(LDLR):c.746T>C (p.Ile249Thr)
|
rs879254665
|
0.00001
|
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)
|
rs730882090
|
0.00001
|
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)
|
rs375495026
|
0.00001
|
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly)
|
rs767618089
|
0.00001
|
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys)
|
rs776421777
|
0.00001
|
NM_000527.5(LDLR):c.932A>C (p.Lys311Thr)
|
rs761765254
|
0.00001
|
NM_000527.5(LDLR):c.947A>G (p.Asn316Ser)
|
rs730882094
|
0.00001
|
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)
|
rs746834464
|
0.00001
|
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val)
|
rs772853856
|
0.00001
|
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu)
|
rs746702002
|
0.00001
|
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn)
|
rs772108001
|
0.00001
|
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)
|
rs763257568
|
0.00001
|
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu)
|
rs746808159
|
0.00001
|
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)
|
rs772562587
|
0.00001
|
NM_000530.8(MPZ):c.186C>G (p.Ile62Met)
|
rs121913605
|
0.00001
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099
|
0.00001
|
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr)
|
rs121913609
|
0.00001
|
NM_000530.8(MPZ):c.385G>A (p.Val129Ile)
|
rs201156403
|
0.00001
|
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)
|
rs572010627
|
0.00001
|
NM_000531.6(OTC):c.286T>C (p.Ser96Pro)
|
rs184053962
|
0.00001
|
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala)
|
rs796052024
|
0.00001
|
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
|
rs756414710
|
0.00001
|
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp)
|
rs375999824
|
0.00001
|
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)
|
rs730881915
|
0.00001
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)
|
rs188006077
|
0.00001
|
NM_000535.7(PMS2):c.506G>A (p.Arg169His)
|
rs730881917
|
0.00001
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
0.00001
|
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys)
|
rs193922573
|
0.00001
|
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln)
|
rs113332073
|
0.00001
|
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
|
rs193922839
|
0.00001
|
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser)
|
rs193922849
|
0.00001
|
NM_000540.3(RYR1):c.131G>A (p.Arg44His)
|
rs139161723
|
0.00001
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
NM_000540.3(RYR1):c.15021G>C (p.Gln5007His)
|
rs376293495
|
0.00001
|
NM_000540.3(RYR1):c.1559T>C (p.Leu520Pro)
|
rs1384515505
|
0.00001
|
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln)
|
rs772978260
|
0.00001
|
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn)
|
rs118192160
|
0.00001
|
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)
|
rs565825739
|
0.00001
|
NM_000540.3(RYR1):c.2682G>T (p.Pro894=)
|
rs919322708
|
0.00001
|
NM_000540.3(RYR1):c.326G>A (p.Arg109Gln)
|
rs762278203
|
0.00001
|
NM_000540.3(RYR1):c.328C>T (p.His110Tyr)
|
rs767777113
|
0.00001
|
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys)
|
rs769744438
|
0.00001
|
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp)
|
rs763944786
|
0.00001
|
NM_000540.3(RYR1):c.4777C>T (p.Arg1593Trp)
|
rs1229854214
|
0.00001
|
NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser)
|
rs536596969
|
0.00001
|
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met)
|
rs193922799
|
0.00001
|
NM_000540.3(RYR1):c.7043A>G (p.Glu2348Gly)
|
rs193922801
|
0.00001
|
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln)
|
rs1387126664
|
0.00001
|
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly)
|
rs976108591
|
0.00001
|
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)
|
rs193922809
|
0.00001
|
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp)
|
rs193922826
|
0.00001
|
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)
|
rs193922829
|
0.00001
|
NM_000540.3(RYR1):c.8291A>G (p.Glu2764Gly)
|
rs1403616422
|
0.00001
|
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp)
|
rs1157851269
|
0.00001
|
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu)
|
rs754002399
|
0.00001
|
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu)
|
rs758210285
|
0.00001
|
NM_000540.3(RYR1):c.983G>A (p.Arg328Gln)
|
rs755875230
|
0.00001
|
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg)
|
rs1206562843
|
0.00001
|
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)
|
rs794727629
|
0.00001
|
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)
|
rs763566905
|
0.00001
|
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)
|
rs748589919
|
0.00001
|
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)
|
rs1554935669
|
0.00001
|
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp)
|
rs779927660
|
0.00001
|
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe)
|
rs193922587
|
0.00001
|
NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys)
|
rs1316999782
|
0.00001
|
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)
|
rs1286294151
|
0.00001
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.328C>T (p.Arg110Cys)
|
rs587781371
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.472C>T (p.Arg158Cys)
|
rs587780068
|
0.00001
|
NM_000546.6(TP53):c.523C>T (p.Arg175Cys)
|
rs138729528
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
|
rs587782664
|
0.00001
|
NM_000548.5(TSC2):c.886G>A (p.Val296Met)
|
rs747237113
|
0.00001
|
NM_000550.3(TYRP1):c.1133A>G (p.Asn378Ser)
|
rs771055145
|
0.00001
|
NM_000552.5(VWF):c.2278C>T (p.Arg760Cys)
|
rs61748466
|
0.00001
|
NM_000552.5(VWF):c.3944G>A (p.Arg1315His)
|
rs61749396
|
0.00001
|
NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr)
|
rs61750084
|
0.00001
|
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp)
|
rs765749454
|
0.00001
|
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg)
|
rs772347559
|
0.00001
|
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)
|
rs182923857
|
0.00001
|
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)
|
rs398123486
|
0.00001
|
NM_000709.4(BCKDHA):c.836A>G (p.Tyr279Cys)
|
rs367823977
|
0.00001
|
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)
|
rs398123515
|
0.00001
|
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn)
|
rs773528195
|
0.00001
|
NM_000719.7(CACNA1C):c.2569C>G (p.Pro857Ala)
|
rs1391136601
|
0.00001
|
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln)
|
rs730880056
|
0.00001
|
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro)
|
rs1406298698
|
0.00001
|
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)
|
rs730882199
|
0.00001
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)
|
rs72551317
|
0.00001
|
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met)
|
rs371707778
|
0.00001
|
NM_001005242.3(PKP2):c.1379-1998C>T
|
rs151212477
|
0.00001
|
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs)
|
rs967826828
|
0.00001
|
NM_001006658.3(CR2):c.1613A>G (p.His538Arg)
|
rs763755514
|
0.00001
|
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp)
|
rs1243531358
|
0.00001
|
NM_001008216.2(GALE):c.449C>T (p.Thr150Met)
|
rs765353795
|
0.00001
|
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)
|
rs752793757
|
0.00001
|
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr)
|
rs397516382
|
0.00001
|
NM_001018005.2(TPM1):c.82G>C (p.Asp28His)
|
rs397516391
|
0.00001
|
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr)
|
rs199476321
|
0.00001
|
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe)
|
rs529893298
|
0.00001
|
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)
|
rs121917786
|
0.00001
|
NM_001018115.3(FANCD2):c.491+1G>A
|
rs943009372
|
0.00001
|
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)
|
rs778289599
|
0.00001
|
NM_001031689.3(PLAA):c.1487-1G>A
|
rs1426488816
|
0.00001
|
NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr)
|
rs770792767
|
0.00001
|
NM_001034116.2(EIF2B4):c.1191+2T>C
|
rs751867352
|
0.00001
|
NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser)
|
rs753850982
|
0.00001
|
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)
|
rs764698152
|
0.00001
|
NM_001035.3(RYR2):c.14869T>A (p.Cys4957Ser)
|
rs758500988
|
0.00001
|
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys)
|
rs730880191
|
0.00001
|
NM_001035.3(RYR2):c.365G>A (p.Arg122His)
|
rs727503396
|
0.00001
|
NM_001035.3(RYR2):c.4040T>G (p.Met1347Arg)
|
rs193922625
|
0.00001
|
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys)
|
rs1290534109
|
0.00001
|
NM_001037333.3(CYFIP2):c.1684C>T (p.Arg562Trp)
|
rs1663188420
|
0.00001
|
NM_001038603.3(MARVELD2):c.1147-2A>G
|
rs763062791
|
0.00001
|
NM_001040716.2(PC):c.806G>A (p.Arg269Gln)
|
rs1349343839
|
0.00001
|
NM_001042432.2(CLN3):c.47-1G>A
|
rs1555469477
|
0.00001
|
NM_001042432.2(CLN3):c.837+5G>A
|
rs756848924
|
0.00001
|
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr)
|
rs754639587
|
0.00001
|
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu)
|
rs754511534
|
0.00001
|
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp)
|
rs431905516
|
0.00001
|
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys)
|
rs199634446
|
0.00001
|
NM_001048174.2(MUTYH):c.1102+1G>A
|
rs587781337
|
0.00001
|
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs)
|
rs587780086
|
0.00001
|
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg)
|
rs558707786
|
0.00001
|
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp)
|
rs587781864
|
0.00001
|
NM_001048174.2(MUTYH):c.470G>A (p.Arg157Gln)
|
rs533899702
|
0.00001
|
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu)
|
rs768553551
|
0.00001
|
NM_001048174.2(MUTYH):c.992C>T (p.Pro331Leu)
|
rs1060501323
|
0.00001
|
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)
|
rs199422117
|
0.00001
|
NM_001077365.2(POMT1):c.697_699del (p.Asn233del)
|
rs761863400
|
0.00001
|
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp)
|
rs558187116
|
0.00001
|
NM_001080.3(ALDH5A1):c.1478A>G (p.Asn493Ser)
|
rs776978579
|
0.00001
|
NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His)
|
rs773814880
|
0.00001
|
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly)
|
rs757605946
|
0.00001
|
NM_001081.4(CUBN):c.6821+3A>G
|
rs767078847
|
0.00001
|
NM_001082971.2(DDC):c.361T>C (p.Trp121Arg)
|
rs371117662
|
0.00001
|
NM_001082971.2(DDC):c.923A>T (p.Asn308Ile)
|
rs375716771
|
0.00001
|
NM_001083116.3(PRF1):c.1018G>A (p.Asp340Asn)
|
rs754079962
|
0.00001
|
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro)
|
rs764596094
|
0.00001
|
NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe)
|
rs137853311
|
0.00001
|
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys)
|
rs1064797047
|
0.00001
|
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe)
|
rs138808921
|
0.00001
|
NM_001114753.3(ENG):c.-10C>T
|
rs756994701
|
0.00001
|
NM_001114753.3(ENG):c.790G>A (p.Asp264Asn)
|
rs1210433339
|
0.00001
|
NM_001122955.4(BSCL2):c.405-11A>G
|
rs1434874435
|
0.00001
|
NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser)
|
rs886039754
|
0.00001
|
NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe)
|
rs748547209
|
0.00001
|
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp)
|
rs1041531529
|
0.00001
|
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys)
|
rs121908243
|
0.00001
|
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)
|
rs757820496
|
0.00001
|
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)
|
rs1393804220
|
0.00001
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
0.00001
|
NM_001142800.2(EYS):c.5644+5G>A
|
rs794727412
|
0.00001
|
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro)
|
rs1278246029
|
0.00001
|
NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp)
|
rs377314861
|
0.00001
|
NM_001145678.3(KIAA0825):c.2173A>T (p.Lys725Ter)
|
rs956457873
|
0.00001
|
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)
|
rs121912683
|
0.00001
|
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)
|
rs869025431
|
0.00001
|
NM_001159773.2(CANT1):c.734C>T (p.Pro245Leu)
|
rs761853610
|
0.00001
|
NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe)
|
rs370050799
|
0.00001
|
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn)
|
rs193302900
|
0.00001
|
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)
|
rs1255744452
|
0.00001
|
NM_001164508.2(NEB):c.19101+5G>A
|
rs374929094
|
0.00001
|
NM_001164508.2(NEB):c.2211+5G>T
|
rs797045736
|
0.00001
|
NM_001164508.2(NEB):c.23127+2T>C
|
rs112610938
|
0.00001
|
NM_001164508.2(NEB):c.8020G>A (p.Glu2674Lys)
|
rs369224273
|
0.00001
|
NM_001165963.4(SCN1A):c.2240T>C (p.Ile747Thr)
|
rs980156920
|
0.00001
|
NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met)
|
rs750901301
|
0.00001
|
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser)
|
rs398123591
|
0.00001
|
NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln)
|
rs1057517802
|
0.00001
|
NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly)
|
rs779408186
|
0.00001
|
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)
|
rs779526456
|
0.00001
|
NM_001177701.3(IFT27):c.234+1G>A
|
rs1159774355
|
0.00001
|
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met)
|
rs376917645
|
0.00001
|
NM_001182.5(ALDH7A1):c.607T>G (p.Trp203Gly)
|
rs555896752
|
0.00001
|
NM_001191061.2(SLC25A22):c.735_736del (p.Pro245_Cys246insTer)
|
rs796053242
|
0.00001
|
NM_001194998.2(CEP152):c.88-2A>G
|
rs537376932
|
0.00001
|
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg)
|
rs753034799
|
0.00001
|
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter)
|
rs777327250
|
0.00001
|
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys)
|
rs775497984
|
0.00001
|
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser)
|
rs761934676
|
0.00001
|
NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp)
|
rs992324423
|
0.00001
|
NM_001205293.3(CACNA1E):c.4777A>G (p.Ile1593Val)
|
rs1159957403
|
0.00001
|
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter)
|
rs186643840
|
0.00001
|
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)
|
rs387907119
|
0.00001
|
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)
|
rs768701595
|
0.00001
|
NM_001267550.2(TTN):c.10303+2T>C
|
rs371596417
|
0.00001
|
NM_001267550.2(TTN):c.104399del (p.Arg34800fs)
|
rs747662439
|
0.00001
|
NM_001267550.2(TTN):c.105805del (p.Thr35269fs)
|
rs752787097
|
0.00001
|
NM_001267550.2(TTN):c.12016_12019dup (p.Gly4007fs)
|
rs1553940935
|
0.00001
|
NM_001267550.2(TTN):c.14093-1G>A
|
rs869312099
|
0.00001
|
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter)
|
rs772235481
|
0.00001
|
NM_001267550.2(TTN):c.20395C>T (p.Arg6799Trp)
|
rs751534449
|
0.00001
|
NM_001267550.2(TTN):c.22930C>T (p.Arg7644Ter)
|
rs1340940049
|
0.00001
|
NM_001267550.2(TTN):c.26482+1G>C
|
rs1440418037
|
0.00001
|
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr)
|
rs369108107
|
0.00001
|
NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter)
|
rs1441434215
|
0.00001
|
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)
|
rs878854299
|
0.00001
|
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter)
|
rs727504499
|
0.00001
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00001
|
NM_001267550.2(TTN):c.44816-1G>A
|
rs749705939
|
0.00001
|
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter)
|
rs397517580
|
0.00001
|
NM_001267550.2(TTN):c.51436+1G>A
|
rs761807131
|
0.00001
|
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His)
|
rs559590585
|
0.00001
|
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter)
|
rs768431507
|
0.00001
|
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter)
|
rs794729275
|
0.00001
|
NM_001267550.2(TTN):c.68786C>T (p.Ser22929Leu)
|
rs764365298
|
0.00001
|
NM_001267550.2(TTN):c.68824+5G>C
|
rs749639627
|
0.00001
|
NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr)
|
rs786205539
|
0.00001
|
NM_001267550.2(TTN):c.72669del (p.Asp24224fs)
|
rs727504531
|
0.00001
|
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)
|
rs146572907
|
0.00001
|
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys)
|
rs727504244
|
0.00001
|
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln)
|
rs730881101
|
0.00001
|
NM_001276345.2(TNNT2):c.601-1G>A
|
rs483352835
|
0.00001
|
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)
|
rs367785431
|
0.00001
|
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu)
|
rs1190944498
|
0.00001
|
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)
|
rs765715798
|
0.00001
|
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro)
|
rs201989042
|
0.00001
|
NM_001287491.2(TET3):c.5030C>T (p.Pro1677Leu)
|
rs1691236972
|
0.00001
|
NM_001288705.3(CSF1R):c.2392G>A (p.Gly798Arg)
|
rs1209791630
|
0.00001
|
NM_001289808.2(CRYAB):c.2T>C (p.Met1Thr)
|
rs577253222
|
0.00001
|
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)
|
rs760373259
|
0.00001
|
NM_001297.5(CNGB1):c.2294G>A (p.Arg765His)
|
rs761839551
|
0.00001
|
NM_001297.5(CNGB1):c.2438C>T (p.Ser813Leu)
|
rs747258045
|
0.00001
|
NM_001298.3(CNGA3):c.983T>C (p.Ile328Thr)
|
rs752170364
|
0.00001
|
NM_001303.4(COX10):c.982G>A (p.Ala328Thr)
|
rs777911169
|
0.00001
|
NM_001303256.3(MORC2):c.2888A>G (p.Asn963Ser)
|
rs781162787
|
0.00001
|
NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu)
|
rs587783157
|
0.00001
|
NM_001349.4(DARS1):c.1459C>T (p.Arg487Cys)
|
rs587776984
|
0.00001
|
NM_001349338.3(FOXP1):c.1523C>T (p.Thr508Met)
|
rs2037693846
|
0.00001
|
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)
|
rs1261821166
|
0.00001
|
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
|
rs1260631800
|
0.00001
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
NM_001354768.3(NRL):c.544C>T (p.Gln182Ter)
|
rs901811301
|
0.00001
|
NM_001358530.2(MOCS1):c.1150+20G>A
|
rs752653792
|
0.00001
|
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys)
|
rs751603831
|
0.00001
|
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys)
|
rs371302153
|
0.00001
|
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His)
|
rs142213147
|
0.00001
|
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro)
|
rs1354718634
|
0.00001
|
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser)
|
rs1478872904
|
0.00001
|
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)
|
rs80338855
|
0.00001
|
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser)
|
rs769218623
|
0.00001
|
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)
|
rs779896782
|
0.00001
|
NM_001360.3(DHCR7):c.889A>C (p.Ile297Leu)
|
rs1085307926
|
0.00001
|
NM_001360016.2(G6PD):c.242G>A (p.Arg81His)
|
rs782308266
|
0.00001
|
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met)
|
rs782771682
|
0.00001
|
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn)
|
rs781906610
|
0.00001
|
NM_001363118.2(SLC52A2):c.505C>T (p.Arg169Cys)
|
rs782345472
|
0.00001
|
NM_001365999.1(SZT2):c.9269G>A (p.Arg3090His)
|
rs374490896
|
0.00001
|
NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter)
|
rs756032160
|
0.00001
|
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter)
|
rs758112779
|
0.00001
|
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)
|
rs397515541
|
0.00001
|
NM_001369.3(DNAH5):c.5146C>T (p.Arg1716Trp)
|
rs368644722
|
0.00001
|
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp)
|
rs868151020
|
0.00001
|
NM_001369.3(DNAH5):c.8147T>C (p.Ile2716Thr)
|
rs746501395
|
0.00001
|
NM_001369.3(DNAH5):c.8396G>A (p.Arg2799Gln)
|
rs1182948401
|
0.00001
|
NM_001369268.1(ACAN):c.7108T>C (p.Tyr2370His)
|
rs1555457492
|
0.00001
|
NM_001370466.1(NOD2):c.565+1G>A
|
rs766614906
|
0.00001
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)
|
rs749460715
|
0.00001
|
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)
|
rs771537277
|
0.00001
|
NM_001370658.1(BTD):c.176G>A (p.Arg59His)
|
rs397514343
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)
|
rs397514359
|
0.00001
|
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)
|
rs397514363
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)
|
rs397514370
|
0.00001
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00001
|
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)
|
rs397514381
|
0.00001
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)
|
rs397514383
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln)
|
rs1275962600
|
0.00001
|
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His)
|
rs749704755
|
0.00001
|
NM_001371904.1(APOA5):c.888del (p.Ile296fs)
|
rs1477198098
|
0.00001
|
NM_001371986.1(UNC80):c.8723G>A (p.Arg2908Gln)
|
rs1255262851
|
0.00001
|
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu)
|
rs376245108
|
0.00001
|
NM_001374828.1(ARID1B):c.3236-1G>A
|
rs752642190
|
0.00001
|
NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu)
|
rs770569272
|
0.00001
|
NM_001378615.1(CC2D2A):c.4550C>G (p.Thr1517Ser)
|
rs780673487
|
0.00001
|
NM_001378969.1(KCND3):c.1645C>T (p.Arg549Cys)
|
rs1294150954
|
0.00001
|
NM_001379270.1(CNGA1):c.818G>A (p.Arg273Gln)
|
rs371238926
|
0.00001
|
NM_001379286.1(ZNF423):c.3274G>A (p.Val1092Ile)
|
rs759221881
|
0.00001
|
NM_001379610.1(SPINK1):c.190A>G (p.Asn64Asp)
|
rs1261616345
|
0.00001
|
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)
|
rs772988029
|
0.00001
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
0.00001
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
0.00001
|
NM_001384140.1(PCDH15):c.4211+2T>G
|
rs753832779
|
0.00001
|
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln)
|
rs368682034
|
0.00001
|
NM_001393500.2(TOMT):c.73C>T (p.Arg25Ter)
|
rs1298804148
|
0.00001
|
NM_001453.3(FOXC1):c.486C>G (p.Phe162Leu)
|
rs1581373871
|
0.00001
|
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met)
|
rs1420394583
|
0.00001
|
NM_001486.4(GCKR):c.1312C>T (p.His438Tyr)
|
rs745955443
|
0.00001
|
NM_001540.5(HSPB1):c.570G>C (p.Gln190His)
|
rs764297134
|
0.00001
|
NM_001605.3(AARS1):c.1997T>C (p.Val666Ala)
|
rs145056270
|
0.00001
|
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn)
|
rs763757370
|
0.00001
|
NM_001605.3(AARS1):c.976C>T (p.Arg326Trp)
|
rs777601008
|
0.00001
|
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys)
|
rs772862676
|
0.00001
|
NM_001673.5(ASNS):c.1614G>A (p.Met538Ile)
|
rs767700335
|
0.00001
|
NM_001673.5(ASNS):c.614A>C (p.His205Pro)
|
rs1252577998
|
0.00001
|
NM_001830.4(CLCN4):c.2183C>T (p.Thr728Met)
|
rs483352716
|
0.00001
|
NM_001844.5(COL2A1):c.1645G>A (p.Gly549Ser)
|
rs907944585
|
0.00001
|
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=)
|
rs794727533
|
0.00001
|
NM_001844.5(COL2A1):c.2966G>A (p.Arg989His)
|
rs756155678
|
0.00001
|
NM_001845.6(COL4A1):c.4204G>A (p.Gly1402Ser)
|
rs1179536054
|
0.00001
|
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp)
|
rs567124920
|
0.00001
|
NM_001846.4(COL4A2):c.1012-1G>A
|
rs1224451609
|
0.00001
|
NM_001846.4(COL4A2):c.1776+1G>A
|
rs886039602
|
0.00001
|
NM_001846.4(COL4A2):c.3598G>A (p.Gly1200Ser)
|
rs1271683445
|
0.00001
|
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg)
|
rs797044947
|
0.00001
|
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg)
|
rs727503883
|
0.00001
|
NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser)
|
rs778364096
|
0.00001
|
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys)
|
rs2078408746
|
0.00001
|
NM_001852.4(COL9A2):c.1603+1G>A
|
rs1322708706
|
0.00001
|
NM_001853.4(COL9A3):c.1387G>A (p.Gly463Arg)
|
rs776587206
|
0.00001
|
NM_001854.4(COL11A1):c.1003G>T (p.Glu335Ter)
|
rs776004614
|
0.00001
|
NM_001875.5(CPS1):c.1837-8A>G
|
rs1290474919
|
0.00001
|
NM_001875.5(CPS1):c.2740G>C (p.Asp914His)
|
rs765484849
|
0.00001
|
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs)
|
rs1318756445
|
0.00001
|
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val)
|
rs121912595
|
0.00001
|
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)
|
rs778117194
|
0.00001
|
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)
|
rs1392934477
|
0.00001
|
NM_001875.5(CPS1):c.4274+2T>C
|
rs1374322297
|
0.00001
|
NM_001876.4(CPT1A):c.1027T>G (p.Phe343Val)
|
rs80356783
|
0.00001
|
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg)
|
rs80356784
|
0.00001
|
NM_001876.4(CPT1A):c.317G>A (p.Ser106Asn)
|
rs766819782
|
0.00001
|
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn)
|
rs763407972
|
0.00001
|
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)
|
rs1449113689
|
0.00001
|
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter)
|
rs767760099
|
0.00001
|
NM_001918.5(DBT):c.5C>T (p.Ala2Val)
|
rs398123672
|
0.00001
|
NM_001927.4(DES):c.1063C>T (p.Arg355Ter)
|
rs762808690
|
0.00001
|
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys)
|
rs770921270
|
0.00001
|
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)
|
rs121913042
|
0.00001
|
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)
|
rs772976948
|
0.00001
|
NM_002180.3(IGHMBP2):c.1582G>A (p.Ala528Thr)
|
rs724159960
|
0.00001
|
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg)
|
rs398123680
|
0.00001
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
NM_002234.4(KCNA5):c.1727C>T (p.Ala576Val)
|
rs121908592
|
0.00001
|
NM_002241.5(KCNJ10):c.179T>C (p.Ile60Thr)
|
rs759993423
|
0.00001
|
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)
|
rs138943405
|
0.00001
|
NM_002296.4(LBR):c.1366C>G (p.Leu456Val)
|
rs377110126
|
0.00001
|
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp)
|
rs1270099780
|
0.00001
|
NM_002335.4(LRP5):c.1507G>A (p.Gly503Arg)
|
rs766988509
|
0.00001
|
NM_002335.4(LRP5):c.199G>A (p.Ala67Thr)
|
rs544861971
|
0.00001
|
NM_002470.4(MYH3):c.4357-10G>A
|
rs374066994
|
0.00001
|
NM_002474.3(MYH11):c.2098C>T (p.Arg700Trp)
|
rs886038932
|
0.00001
|
NM_002529.4(NTRK1):c.2143G>A (p.Val715Met)
|
rs759190964
|
0.00001
|
NM_002529.4(NTRK1):c.2312G>A (p.Arg771His)
|
rs780724170
|
0.00001
|
NM_002617.4(PEX10):c.913-2A>C
|
rs758250423
|
0.00001
|
NM_002633.3(PGM1):c.1264C>T (p.Arg422Trp)
|
rs748019294
|
0.00001
|
NM_002693.3(POLG):c.1283T>C (p.Leu428Pro)
|
rs774610098
|
0.00001
|
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)
|
rs764287987
|
0.00001
|
NM_002693.3(POLG):c.2573C>T (p.Thr858Ile)
|
rs759128787
|
0.00001
|
NM_002693.3(POLG):c.2620T>A (p.Leu874Met)
|
rs758402960
|
0.00001
|
NM_002693.3(POLG):c.2657T>C (p.Leu886Pro)
|
rs769210629
|
0.00001
|
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)
|
rs140079523
|
0.00001
|
NM_002693.3(POLG):c.3347T>C (p.Met1116Thr)
|
rs764036283
|
0.00001
|
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser)
|
rs753864625
|
0.00001
|
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)
|
rs776031396
|
0.00001
|
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn)
|
rs149921636
|
0.00001
|
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)
|
rs781256643
|
0.00001
|
NM_002693.3(POLG):c.425T>C (p.Leu142Pro)
|
rs1064797202
|
0.00001
|
NM_002693.3(POLG):c.926G>A (p.Arg309His)
|
rs780953863
|
0.00001
|
NM_002693.3(POLG):c.955A>G (p.Lys319Glu)
|
rs766465907
|
0.00001
|
NM_002734.5(PRKAR1A):c.545C>T (p.Thr182Met)
|
rs199801675
|
0.00001
|
NM_002739.5(PRKCG):c.1764+1G>T
|
rs1406338491
|
0.00001
|
NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu)
|
rs1303074743
|
0.00001
|
NM_002860.4(ALDH18A1):c.2110G>A (p.Glu704Lys)
|
rs758219423
|
0.00001
|
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter)
|
rs1462559161
|
0.00001
|
NM_002878.4(RAD51D):c.619T>C (p.Ser207Pro)
|
rs372365287
|
0.00001
|
NM_002880.4(RAF1):c.791A>T (p.His264Leu)
|
rs1057517887
|
0.00001
|
NM_002887.4(RARS1):c.1414C>T (p.Arg472Ter)
|
rs180760483
|
0.00001
|
NM_002900.3(RBP3):c.863C>A (p.Pro288His)
|
rs917821437
|
0.00001
|
NM_002907.4(RECQL):c.1476C>G (p.Tyr492Ter)
|
rs370785080
|
0.00001
|
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)
|
rs587778661
|
0.00001
|
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys)
|
rs756676111
|
0.00001
|
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)
|
rs746187344
|
0.00001
|
NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg)
|
rs1408166345
|
0.00001
|
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe)
|
rs386134222
|
0.00001
|
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)
|
rs727504159
|
0.00001
|
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys)
|
rs762126547
|
0.00001
|
NM_003060.4(SLC22A5):c.394-16T>A
|
rs775097754
|
0.00001
|
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)
|
rs1178584184
|
0.00001
|
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)
|
rs386134197
|
0.00001
|
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn)
|
rs772578415
|
0.00001
|
NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val)
|
rs121434500
|
0.00001
|
NM_003119.4(SPG7):c.1552+2dup
|
rs1567928509
|
0.00001
|
NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr)
|
rs2058661391
|
0.00001
|
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys)
|
rs752257333
|
0.00001
|
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln)
|
rs782021521
|
0.00001
|
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met)
|
rs1232197674
|
0.00001
|
NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr)
|
rs80338884
|
0.00001
|
NM_003240.5(LEFTY2):c.1030C>A (p.Pro344Thr)
|
rs777139964
|
0.00001
|
NM_003242.6(TGFBR2):c.95-2A>G
|
rs779131465
|
0.00001
|
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
|
rs267607125
|
0.00001
|
NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp)
|
rs730881061
|
0.00001
|
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys)
|
rs527236117
|
0.00001
|
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)
|
rs398123697
|
0.00001
|
NM_003361.4(UMOD):c.326T>A (p.Val109Glu)
|
rs780462125
|
0.00001
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
NM_003476.5(CSRP3):c.364C>T (p.Arg122Ter)
|
rs902082118
|
0.00001
|
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr)
|
rs761507504
|
0.00001
|
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val)
|
rs201657455
|
0.00001
|
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys)
|
rs587784347
|
0.00001
|
NM_003560.4(PLA2G6):c.2249G>A (p.Cys750Tyr)
|
rs751225193
|
0.00001
|
NM_003630.3(PEX3):c.389G>A (p.Arg130Gln)
|
rs758701470
|
0.00001
|
NM_003640.5(ELP1):c.1461-2A>G
|
rs866046915
|
0.00001
|
NM_003664.5(AP3B1):c.3131+1G>A
|
rs766116144
|
0.00001
|
NM_003721.4(RFXANK):c.438+5G>A
|
rs1196984337
|
0.00001
|
NM_003722.5(TP63):c.109C>T (p.Arg37Ter)
|
rs147340040
|
0.00001
|
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly)
|
rs922800309
|
0.00001
|
NM_003850.3(SUCLA2):c.1219C>T (p.Arg407Trp)
|
rs1233249991
|
0.00001
|
NM_003896.4(ST3GAL5):c.82+1G>C
|
rs878854615
|
0.00001
|
NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln)
|
rs780293535
|
0.00001
|
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)
|
rs1326514987
|
0.00001
|
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)
|
rs104894403
|
0.00001
|
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)
|
rs111033361
|
0.00001
|
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)
|
rs80338946
|
0.00001
|
NM_004004.6(GJB2):c.584T>C (p.Met195Thr)
|
rs1378679640
|
0.00001
|
NM_004035.7(ACOX1):c.176G>C (p.Arg59Pro)
|
rs777937235
|
0.00001
|
NM_004035.7(ACOX1):c.679G>A (p.Gly227Ser)
|
rs1002618350
|
0.00001
|
NM_004092.4(ECHS1):c.268G>A (p.Gly90Arg)
|
rs1085307550
|
0.00001
|
NM_004092.4(ECHS1):c.463G>A (p.Gly155Ser)
|
rs555404939
|
0.00001
|
NM_004092.4(ECHS1):c.712G>C (p.Ala238Pro)
|
rs142639185
|
0.00001
|
NM_004153.4(ORC1):c.266T>C (p.Phe89Ser)
|
rs387906827
|
0.00001
|
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)
|
rs778207102
|
0.00001
|
NM_004168.4(SDHA):c.150+1G>A
|
rs1057523165
|
0.00001
|
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)
|
rs9809219
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.923C>T (p.Thr308Met)
|
rs1457666982
|
0.00001
|
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn)
|
rs267606676
|
0.00001
|
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln)
|
rs752742151
|
0.00001
|
NM_004211.5(SLC6A5):c.2070+1G>A
|
rs770660705
|
0.00001
|
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln)
|
rs763410987
|
0.00001
|
NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp)
|
rs864622198
|
0.00001
|
NM_004360.5(CDH1):c.731A>G (p.Asp244Gly)
|
rs1064794231
|
0.00001
|
NM_004415.4(DSP):c.2985G>A (p.Glu995=)
|
rs768858918
|
0.00001
|
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp)
|
rs764827256
|
0.00001
|
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val)
|
rs776428695
|
0.00001
|
NM_004453.4(ETFDH):c.257G>A (p.Arg86His)
|
rs777655131
|
0.00001
|
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr)
|
rs141407224
|
0.00001
|
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr)
|
rs371260517
|
0.00001
|
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)
|
rs537038850
|
0.00001
|
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg)
|
rs763541530
|
0.00001
|
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg)
|
rs754082348
|
0.00001
|
NM_004530.6(MMP2):c.538G>A (p.Asp180Asn)
|
rs786205497
|
0.00001
|
NM_004551.3(NDUFS3):c.374G>A (p.Arg125His)
|
rs138867882
|
0.00001
|
NM_004560.4(ROR2):c.1970G>A (p.Arg657His)
|
rs529829552
|
0.00001
|
NM_004560.4(ROR2):c.2239C>T (p.Arg747Ter)
|
rs374646337
|
0.00001
|
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His)
|
rs755827803
|
0.00001
|
NM_004614.5(TK2):c.181A>G (p.Ser61Gly)
|
rs747276038
|
0.00001
|
NM_004614.5(TK2):c.310C>T (p.Arg104Cys)
|
rs1194187379
|
0.00001
|
NM_004614.5(TK2):c.311G>A (p.Arg104His)
|
rs770318536
|
0.00001
|
NM_004614.5(TK2):c.497A>T (p.Asp166Val)
|
rs921593414
|
0.00001
|
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp)
|
rs768210838
|
0.00001
|
NM_004628.5(XPC):c.1A>G (p.Met1Val)
|
rs763678756
|
0.00001
|
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His)
|
rs386833861
|
0.00001
|
NM_004646.4(NPHS1):c.1170+7C>T
|
rs906888001
|
0.00001
|
NM_004646.4(NPHS1):c.2815+3A>G
|
rs1223946044
|
0.00001
|
NM_004646.4(NPHS1):c.320C>T (p.Ala107Val)
|
rs386833934
|
0.00001
|
NM_004655.4(AXIN2):c.1713-2A>G
|
rs766170422
|
0.00001
|
NM_004655.4(AXIN2):c.1908-2A>G
|
rs978837790
|
0.00001
|
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg)
|
rs754498075
|
0.00001
|
NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe)
|
rs121908610
|
0.00001
|
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp)
|
rs754730601
|
0.00001
|
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)
|
rs532757890
|
0.00001
|
NM_004863.4(SPTLC2):c.1075G>A (p.Val359Met)
|
rs267607090
|
0.00001
|
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu)
|
rs104894586
|
0.00001
|
NM_004870.4(MPDU1):c.511del (p.Leu171fs)
|
rs756471132
|
0.00001
|
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)
|
rs768600603
|
0.00001
|
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)
|
rs1012819766
|
0.00001
|
NM_004985.5(KRAS):c.149C>T (p.Thr50Ile)
|
rs1407509439
|
0.00001
|
NM_005002.5(NDUFA9):c.199C>T (p.Arg67Ter)
|
rs758574474
|
0.00001
|
NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys)
|
rs149271416
|
0.00001
|
NM_005033.3(EXOSC9):c.329dup (p.Arg111fs)
|
rs754121759
|
0.00001
|
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)
|
rs1410990711
|
0.00001
|
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)
|
rs185476065
|
0.00001
|
NM_005051.3(QARS1):c.1207C>T (p.Arg403Trp)
|
rs587777332
|
0.00001
|
NM_005051.3(QARS1):c.1389-3C>A
|
rs368358627
|
0.00001
|
NM_005051.3(QARS1):c.794G>A (p.Arg265His)
|
rs916890735
|
0.00001
|
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)
|
rs368695664
|
0.00001
|
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp)
|
rs374604570
|
0.00001
|
NM_005101.4(ISG15):c.83T>A (p.Leu28Gln)
|
rs1245686232
|
0.00001
|
NM_005198.5(CHKB):c.940C>T (p.Arg314Cys)
|
rs200919604
|
0.00001
|
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln)
|
rs1581573705
|
0.00001
|
NM_005228.5(EGFR):c.2386G>A (p.Gly796Ser)
|
rs754426793
|
0.00001
|
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln)
|
rs373197800
|
0.00001
|
NM_005422.4(TECTA):c.5839C>T (p.Arg1947Cys)
|
rs1428598791
|
0.00001
|
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys)
|
rs1455568421
|
0.00001
|
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)
|
rs372732220
|
0.00001
|
NM_005476.7(GNE):c.301C>T (p.Arg101Cys)
|
rs148523065
|
0.00001
|
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)
|
rs786204476
|
0.00001
|
NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys)
|
rs758468167
|
0.00001
|
NM_005502.4(ABCA1):c.2014C>T (p.Arg672Trp)
|
rs759576379
|
0.00001
|
NM_005591.4(MRE11):c.2070+2T>A
|
rs786202801
|
0.00001
|
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg)
|
rs1394188143
|
0.00001
|
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)
|
rs773204705
|
0.00001
|
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)
|
rs756251887
|
0.00001
|
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)
|
rs377225525
|
0.00001
|
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu)
|
rs1315020035
|
0.00001
|
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp)
|
rs376581557
|
0.00001
|
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys)
|
rs757094189
|
0.00001
|
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys)
|
rs886041241
|
0.00001
|
NM_005677.4(COLQ):c.954+1G>A
|
rs757060689
|
0.00001
|
NM_005732.4(RAD50):c.3939A>T (p.Ter1313Tyr)
|
rs121912629
|
0.00001
|
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile)
|
rs730880216
|
0.00001
|
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser)
|
rs121913561
|
0.00001
|
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu)
|
rs56160159
|
0.00001
|
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys)
|
rs200688214
|
0.00001
|
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser)
|
rs749490263
|
0.00001
|
NM_005989.4(AKR1D1):c.509A>G (p.Asn170Ser)
|
rs753124330
|
0.00001
|
NM_005993.5(TBCD):c.3125C>T (p.Pro1042Leu)
|
rs760635077
|
0.00001
|
NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser)
|
rs772606107
|
0.00001
|
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu)
|
rs773900146
|
0.00001
|
NM_006005.3(WFS1):c.2108G>A (p.Arg703His)
|
rs1323852277
|
0.00001
|
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys)
|
rs567563179
|
0.00001
|
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)
|
rs777785526
|
0.00001
|
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)
|
rs200851583
|
0.00001
|
NM_006060.6(IKZF1):c.550C>T (p.Arg184Trp)
|
rs1584926038
|
0.00001
|
NM_006182.4(DDR2):c.2255G>A (p.Arg752His)
|
rs1374086542
|
0.00001
|
NM_006208.3(ENPP1):c.1652A>G (p.Tyr551Cys)
|
rs753071702
|
0.00001
|
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His)
|
rs886042002
|
0.00001
|
NM_006231.4(POLE):c.2562-2A>C
|
rs751662353
|
0.00001
|
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter)
|
rs139603739
|
0.00001
|
NM_006231.4(POLE):c.5812-1G>T
|
rs1296022681
|
0.00001
|
NM_006231.4(POLE):c.6658-2A>G
|
rs751217859
|
0.00001
|
NM_006231.4(POLE):c.941C>G (p.Ser314Ter)
|
rs869312803
|
0.00001
|
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln)
|
rs1131691266
|
0.00001
|
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)
|
rs121434502
|
0.00001
|
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)
|
rs780978419
|
0.00001
|
NM_006363.6(SEC23B):c.1873C>A (p.Leu625Ile)
|
rs368458175
|
0.00001
|
NM_006363.6(SEC23B):c.742G>A (p.Glu248Lys)
|
rs398124227
|
0.00001
|
NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter)
|
rs1215612827
|
0.00001
|
NM_006432.5(NPC2):c.190+5G>A
|
rs80358268
|
0.00001
|
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)
|
rs786205211
|
0.00001
|
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)
|
rs148862100
|
0.00001
|
NM_006494.4(ERF):c.247C>T (p.Arg83Trp)
|
rs766762597
|
0.00001
|
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln)
|
rs80359815
|
0.00001
|
NM_006516.4(SLC2A1):c.695G>A (p.Arg232His)
|
rs139412383
|
0.00001
|
NM_006516.4(SLC2A1):c.865G>A (p.Ala289Thr)
|
rs796053252
|
0.00001
|
NM_006767.4(LZTR1):c.1261-2A>G
|
rs759240190
|
0.00001
|
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs)
|
rs1460026299
|
0.00001
|
NM_006767.4(LZTR1):c.2407-2A>G
|
rs1158550690
|
0.00001
|
NM_006767.4(LZTR1):c.263+1G>A
|
rs761241914
|
0.00001
|
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)
|
rs587777177
|
0.00001
|
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)
|
rs1223430276
|
0.00001
|
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val)
|
rs912546325
|
0.00001
|
NM_006859.4(LIAS):c.983T>A (p.Phe328Tyr)
|
rs1064793165
|
0.00001
|
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys)
|
rs201579632
|
0.00001
|
NM_006907.4(PYCR1):c.797+2T>C
|
rs768235246
|
0.00001
|
NM_006941.4(SOX10):c.482G>A (p.Arg161His)
|
rs750566714
|
0.00001
|
NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys)
|
rs755165065
|
0.00001
|
NM_007059.4(KPTN):c.428C>T (p.Pro143Leu)
|
rs372955218
|
0.00001
|
NM_007126.5(VCP):c.1460G>A (p.Arg487His)
|
rs767379602
|
0.00001
|
NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val)
|
rs763958615
|
0.00001
|
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His)
|
rs730881688
|
0.00001
|
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn)
|
rs28909980
|
0.00001
|
NM_007194.4(CHEK2):c.1260-1G>A
|
rs786201906
|
0.00001
|
NM_007194.4(CHEK2):c.1260-8A>G
|
rs863224747
|
0.00001
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr)
|
rs1060502688
|
0.00001
|
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg)
|
rs72552323
|
0.00001
|
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile)
|
rs730881684
|
0.00001
|
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe)
|
rs745646057
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007194.4(CHEK2):c.792+2T>C
|
rs545982789
|
0.00001
|
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys)
|
rs587782460
|
0.00001
|
NM_007215.4(POLG2):c.544C>T (p.Arg182Trp)
|
rs886037843
|
0.00001
|
NM_007272.3(CTRC):c.494-1G>C
|
rs766917452
|
0.00001
|
NM_007289.4(MME):c.1753G>A (p.Glu585Lys)
|
rs757277227
|
0.00001
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
NM_007294.4(BRCA1):c.442-1G>T
|
rs1351019392
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro)
|
rs80357474
|
0.00001
|
NM_007294.4(BRCA1):c.5406+5G>T
|
rs80358073
|
0.00001
|
NM_007294.4(BRCA1):c.5407-25T>A
|
rs758780152
|
0.00001
|
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr)
|
rs995403413
|
0.00001
|
NM_012123.4(MTO1):c.1261-5T>G
|
rs1275100093
|
0.00001
|
NM_012123.4(MTO1):c.1933C>A (p.Arg645Ser)
|
rs746382157
|
0.00001
|
NM_012123.4(MTO1):c.791C>T (p.Pro264Leu)
|
rs1025884753
|
0.00001
|
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln)
|
rs371179032
|
0.00001
|
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter)
|
rs1331106064
|
0.00001
|
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp)
|
rs121908081
|
0.00001
|
NM_012318.3(LETM1):c.1178G>A (p.Arg393His)
|
rs201808137
|
0.00001
|
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)
|
rs1234745577
|
0.00001
|
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)
|
rs587779410
|
0.00001
|
NM_012470.4(TNPO3):c.1334C>T (p.Ala445Val)
|
rs1585339231
|
0.00001
|
NM_013242.3(CFAP20):c.337C>T (p.Arg113Trp)
|
rs767845554
|
0.00001
|
NM_013322.3(SNX10):c.284G>A (p.Arg95His)
|
rs897553060
|
0.00001
|
NM_013328.4(PYCR2):c.40G>C (p.Ala14Pro)
|
rs1210762206
|
0.00001
|
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys)
|
rs563710728
|
0.00001
|
NM_013432.5(TONSL):c.1958C>T (p.Thr653Met)
|
rs755055463
|
0.00001
|
NM_013432.5(TONSL):c.595G>A (p.Glu199Lys)
|
rs1335783881
|
0.00001
|
NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln)
|
rs750899715
|
0.00001
|
NM_014049.5(ACAD9):c.453+2T>A
|
rs1179305061
|
0.00001
|
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val)
|
rs762521317
|
0.00001
|
NM_014055.4(IFT81):c.1150C>T (p.Arg384Cys)
|
rs143130309
|
0.00001
|
NM_014140.4(SMARCAL1):c.1439C>T (p.Pro480Leu)
|
rs758367100
|
0.00001
|
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp)
|
rs119473038
|
0.00001
|
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp)
|
rs1480919035
|
0.00001
|
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly)
|
rs760916142
|
0.00001
|
NM_014231.5(VAMP1):c.315T>A (p.Cys105Ter)
|
rs1237437677
|
0.00001
|
NM_014249.4(NR2E3):c.1007T>C (p.Leu336Pro)
|
rs752883545
|
0.00001
|
NM_014249.4(NR2E3):c.931C>T (p.Arg311Trp)
|
rs767442358
|
0.00001
|
NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg)
|
rs548769905
|
0.00001
|
NM_014254.3(RXYLT1):c.914+6T>G
|
rs748809209
|
0.00001
|
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)
|
rs121918329
|
0.00001
|
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)
|
rs1440541889
|
0.00001
|
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe)
|
rs139805032
|
0.00001
|
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)
|
rs911764681
|
0.00001
|
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)
|
rs750181262
|
0.00001
|
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)
|
rs121908420
|
0.00001
|
NM_014391.3(ANKRD1):c.790C>T (p.Arg264Cys)
|
rs786205461
|
0.00001
|
NM_014625.4(NPHS2):c.416T>G (p.Leu139Arg)
|
rs1345260812
|
0.00001
|
NM_014639.4(SKIC3):c.1499G>T (p.Gly500Val)
|
rs138144509
|
0.00001
|
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala)
|
rs1057518064
|
0.00001
|
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp)
|
rs755315693
|
0.00001
|
NM_014727.3(KMT2B):c.3050C>T (p.Ala1017Val)
|
rs1969301334
|
0.00001
|
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)
|
rs745790694
|
0.00001
|
NM_014845.6(FIG4):c.290-2A>T
|
rs587777715
|
0.00001
|
NM_014874.4(MFN2):c.707C>T (p.Thr236Met)
|
rs773159585
|
0.00001
|
NM_014915.3(ANKRD26):c.-126T>C
|
rs1589393792
|
0.00001
|
NM_014946.4(SPAST):c.1783A>G (p.Ser595Gly)
|
rs1553321245
|
0.00001
|
NM_014946.4(SPAST):c.1817G>A (p.Arg606His)
|
rs768077366
|
0.00001
|
NM_015107.3(PHF8):c.1731-1G>A
|
rs797044651
|
0.00001
|
NM_015107.3(PHF8):c.1731-2A>G
|
rs1437750762
|
0.00001
|
NM_015166.4(MLC1):c.240G>A (p.Met80Ile)
|
rs281875310
|
0.00001
|
NM_015330.6(SPECC1L):c.3247G>A (p.Gly1083Ser)
|
rs786201031
|
0.00001
|
NM_015338.6(ASXL1):c.141-2A>G
|
rs768868045
|
0.00001
|
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)
|
rs551541795
|
0.00001
|
NM_015450.3(POT1):c.233T>C (p.Ile78Thr)
|
rs947005337
|
0.00001
|
NM_015466.4(PTPN23):c.2486C>T (p.Pro829Leu)
|
rs138076291
|
0.00001
|
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)
|
rs752205161
|
0.00001
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)
|
rs267607038
|
0.00001
|
NM_015631.6(TCTN3):c.627+1G>A
|
rs1566074908
|
0.00001
|
NM_015713.5(RRM2B):c.253_255del (p.Glu85del)
|
rs515726184
|
0.00001
|
NM_015713.5(RRM2B):c.962del (p.Thr321fs)
|
rs1435623358
|
0.00001
|
NM_015909.4(NBAS):c.1549C>T (p.Arg517Cys)
|
rs370526257
|
0.00001
|
NM_015909.4(NBAS):c.2524G>T (p.Val842Phe)
|
rs1085307944
|
0.00001
|
NM_015909.4(NBAS):c.842C>T (p.Pro281Leu)
|
rs140256463
|
0.00001
|
NM_015915.5(ATL1):c.1247G>A (p.Arg416His)
|
rs1395551564
|
0.00001
|
NM_015937.6(PIGT):c.550G>A (p.Glu184Lys)
|
rs774753616
|
0.00001
|
NM_015959.4(TMX2):c.392del (p.Leu131fs)
|
rs758529293
|
0.00001
|
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp)
|
rs774976459
|
0.00001
|
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His)
|
rs1486994359
|
0.00001
|
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg)
|
rs746166328
|
0.00001
|
NM_016222.4(DDX41):c.649T>C (p.Ser217Pro)
|
rs376867329
|
0.00001
|
NM_016239.4(MYO15A):c.4216G>A (p.Glu1406Lys)
|
rs759810756
|
0.00001
|
NM_016239.4(MYO15A):c.4310A>G (p.Tyr1437Cys)
|
rs749812958
|
0.00001
|
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn)
|
rs767270134
|
0.00001
|
NM_016239.4(MYO15A):c.5693G>A (p.Arg1898Gln)
|
rs756752580
|
0.00001
|
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln)
|
rs760980785
|
0.00001
|
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser)
|
rs375459945
|
0.00001
|
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)
|
rs765443042
|
0.00001
|
NM_016327.3(UPB1):c.38T>C (p.Leu13Ser)
|
rs200688546
|
0.00001
|
NM_016341.4(PLCE1):c.2960A>G (p.His987Arg)
|
rs762245091
|
0.00001
|
NM_016373.4(WWOX):c.605+5G>A
|
rs1039151413
|
0.00001
|
NM_016529.6(ATP8A2):c.145G>T (p.Asp49Tyr)
|
rs864309608
|
0.00001
|
NM_016648.4(LARP7):c.552+1G>T
|
rs200544616
|
0.00001
|
NM_017534.6(MYH2):c.5472+1G>A
|
rs758888662
|
0.00001
|
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)
|
rs762972459
|
0.00001
|
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)
|
rs375431575
|
0.00001
|
NM_017763.6(RNF43):c.1111C>T (p.Arg371Ter)
|
rs771831816
|
0.00001
|
NM_017775.4(TTC19):c.1A>G (p.Met1Val)
|
rs749196122
|
0.00001
|
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
|
rs773684291
|
0.00001
|
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala)
|
rs780597592
|
0.00001
|
NM_017791.3(FLVCR2):c.1318G>A (p.Gly440Ser)
|
rs752732384
|
0.00001
|
NM_017837.4(PIGV):c.1415T>C (p.Leu472Pro)
|
rs774605091
|
0.00001
|
NM_017837.4(PIGV):c.844_846del (p.Asp282del)
|
rs2081360507
|
0.00001
|
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)
|
rs1451777867
|
0.00001
|
NM_017882.3(CLN6):c.407G>A (p.Arg136His)
|
rs769701646
|
0.00001
|
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)
|
rs746753722
|
0.00001
|
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter)
|
rs559590419
|
0.00001
|
NM_018006.5(TRMU):c.2T>G (p.Met1Arg)
|
rs118203992
|
0.00001
|
NM_018062.4(FANCL):c.273+1G>C
|
rs144729980
|
0.00001
|
NM_018082.6(POLR3B):c.2278G>A (p.Ala760Thr)
|
rs146513209
|
0.00001
|
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys)
|
rs371453512
|
0.00001
|
NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys)
|
rs751459271
|
0.00001
|
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter)
|
rs763770476
|
0.00001
|
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)
|
rs142500730
|
0.00001
|
NM_018668.5(VPS33B):c.96+1G>T
|
rs1567232168
|
0.00001
|
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter)
|
rs1064794819
|
0.00001
|
NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu)
|
rs556384043
|
0.00001
|
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)
|
rs587779411
|
0.00001
|
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)
|
rs538412810
|
0.00001
|
NM_019066.5(MAGEL2):c.2296C>T (p.Arg766Ter)
|
rs1249139977
|
0.00001
|
NM_019098.5(CNGB3):c.1306A>C (p.Ser436Arg)
|
rs748354081
|
0.00001
|
NM_019109.5(ALG1):c.652C>T (p.Pro218Ser)
|
rs528261173
|
0.00001
|
NM_019616.4(F7):c.443G>A (p.Arg148His)
|
rs375134790
|
0.00001
|
NM_019842.4(KCNQ5):c.2725C>T (p.Arg909Ter)
|
rs776643693
|
0.00001
|
NM_019892.6(INPP5E):c.1669C>T (p.Arg557Cys)
|
rs1024279229
|
0.00001
|
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr)
|
rs765327224
|
0.00001
|
NM_019892.6(INPP5E):c.907G>A (p.Val303Met)
|
rs746212325
|
0.00001
|
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys)
|
rs375996272
|
0.00001
|
NM_020166.5(MCCC1):c.1682-3A>G
|
rs760180709
|
0.00001
|
NM_020320.5(RARS2):c.1650+5G>A
|
rs750433723
|
0.00001
|
NM_020320.5(RARS2):c.517G>A (p.Asp173Asn)
|
rs769045045
|
0.00001
|
NM_020365.5(EIF2B3):c.89T>C (p.Val30Ala)
|
rs752636698
|
0.00001
|
NM_020433.5(JPH2):c.421T>C (p.Tyr141His)
|
rs387906897
|
0.00001
|
NM_020442.6(VARS2):c.1468C>T (p.Arg490Ter)
|
rs778868393
|
0.00001
|
NM_020451.3(SELENON):c.1501-1G>A
|
rs750138587
|
0.00001
|
NM_020451.3(SELENON):c.878A>G (p.His293Arg)
|
rs776738184
|
0.00001
|
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val)
|
rs755985958
|
0.00001
|
NM_020533.3(MCOLN1):c.681-19A>C
|
rs768736321
|
0.00001
|
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys)
|
rs121912816
|
0.00001
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
NM_020549.5(CHAT):c.243G>A (p.Trp81Ter)
|
rs1384661323
|
0.00001
|
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His)
|
rs1443883930
|
0.00001
|
NM_020638.3(FGF23):c.107G>A (p.Trp36Ter)
|
rs1064795205
|
0.00001
|
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu)
|
rs193922704
|
0.00001
|
NM_020686.6(ABAT):c.538C>T (p.Arg180Trp)
|
rs746589996
|
0.00001
|
NM_020738.4(KIDINS220):c.3585+1G>A
|
rs775189420
|
0.00001
|
NM_020745.4(AARS2):c.959C>T (p.Ala320Val)
|
rs201471937
|
0.00001
|
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys)
|
rs200187887
|
0.00001
|
NM_020765.3(UBR4):c.4045C>G (p.Arg1349Gly)
|
rs776593168
|
0.00001
|
NM_020774.4(MIB1):c.1417C>T (p.Gln473Ter)
|
rs1386314249
|
0.00001
|
NM_020778.5(ALPK3):c.182+1G>A
|
rs1963449829
|
0.00001
|
NM_020778.5(ALPK3):c.4768C>T (p.Arg1590Ter)
|
rs541612157
|
0.00001
|
NM_020919.4(ALS2):c.2606A>C (p.Gln869Pro)
|
rs1355321952
|
0.00001
|
NM_020937.4(FANCM):c.1060C>T (p.Gln354Ter)
|
rs1156577591
|
0.00001
|
NM_020944.3(GBA2):c.1905G>A (p.Thr635=)
|
rs369401526
|
0.00001
|
NM_020975.6(RET):c.433G>A (p.Val145Ile)
|
rs1311922451
|
0.00001
|
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln)
|
rs1415420832
|
0.00001
|
NM_021008.4(DEAF1):c.716A>G (p.Glu239Gly)
|
rs1064795812
|
0.00001
|
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys)
|
rs1375601977
|
0.00001
|
NM_021625.5(TRPV4):c.2211G>A (p.Trp737Ter)
|
rs1035249096
|
0.00001
|
NM_021625.5(TRPV4):c.812G>A (p.Arg271His)
|
rs387907219
|
0.00001
|
NM_021625.5(TRPV4):c.935C>T (p.Ala312Val)
|
rs751139506
|
0.00001
|
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp)
|
rs374997012
|
0.00001
|
NM_021922.3(FANCE):c.1114-8G>A
|
rs878854342
|
0.00001
|
NM_021922.3(FANCE):c.1510-1G>A
|
rs772678337
|
0.00001
|
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu)
|
rs764158202
|
0.00001
|
NM_021942.6(TRAPPC11):c.3189+1G>A
|
rs1170374164
|
0.00001
|
NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys)
|
rs746357591
|
0.00001
|
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys)
|
rs119485088
|
0.00001
|
NM_022041.4(GAN):c.806G>A (p.Arg269Gln)
|
rs759581558
|
0.00001
|
NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp)
|
rs727504455
|
0.00001
|
NM_022124.6(CDH23):c.2398-1G>T
|
rs751788879
|
0.00001
|
NM_022124.6(CDH23):c.3220G>A (p.Asp1074Asn)
|
rs750452808
|
0.00001
|
NM_022124.6(CDH23):c.3580-11G>A
|
rs769972347
|
0.00001
|
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu)
|
rs771353319
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)
|
rs121908355
|
0.00001
|
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg)
|
rs766045910
|
0.00001
|
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)
|
rs767575019
|
0.00001
|
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His)
|
rs745367639
|
0.00001
|
NM_022132.5(MCCC2):c.302C>T (p.Ser101Phe)
|
rs748028684
|
0.00001
|
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)
|
rs119103222
|
0.00001
|
NM_022132.5(MCCC2):c.578G>A (p.Arg193His)
|
rs535519604
|
0.00001
|
NM_022367.4(SEMA4A):c.1528C>T (p.Arg510Trp)
|
rs1028250483
|
0.00001
|
NM_022370.4(ROBO3):c.733C>T (p.Arg245Trp)
|
rs121918277
|
0.00001
|
NM_022445.4(TPK1):c.382C>T (p.Leu128Phe)
|
rs760881424
|
0.00001
|
NM_022455.5(NSD1):c.4411C>G (p.Arg1471Gly)
|
rs570278338
|
0.00001
|
NM_022552.5(DNMT3A):c.875T>C (p.Ile292Thr)
|
rs777306476
|
0.00001
|
NM_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys)
|
rs748913297
|
0.00001
|
NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val)
|
rs777812455
|
0.00001
|
NM_024063.3(AFG2B):c.2087G>T (p.Cys696Phe)
|
rs747249958
|
0.00001
|
NM_024079.5(ALG8):c.1134G>T (p.Trp378Cys)
|
rs867450807
|
0.00001
|
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser)
|
rs747785577
|
0.00001
|
NM_024301.5(FKRP):c.544T>C (p.Tyr182His)
|
rs753390261
|
0.00001
|
NM_024301.5(FKRP):c.968G>A (p.Arg323His)
|
rs1349031936
|
0.00001
|
NM_024306.5(FA2H):c.691T>C (p.Tyr231His)
|
rs878855081
|
0.00001
|
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys)
|
rs387907039
|
0.00001
|
NM_024306.5(FA2H):c.782A>G (p.His261Arg)
|
rs761645282
|
0.00001
|
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys)
|
rs1481471124
|
0.00001
|
NM_024407.5(NDUFS7):c.343C>T (p.Arg115Cys)
|
rs11551664
|
0.00001
|
NM_024407.5(NDUFS7):c.415G>A (p.Asp139Asn)
|
rs1171276645
|
0.00001
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr)
|
rs727505361
|
0.00001
|
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)
|
rs759785462
|
0.00001
|
NM_024577.4(SH3TC2):c.529+1G>A
|
rs769410348
|
0.00001
|
NM_024596.5(MCPH1):c.2214+2T>C
|
rs575037500
|
0.00001
|
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)
|
rs121917778
|
0.00001
|
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)
|
rs878855095
|
0.00001
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)
|
rs1555202697
|
0.00001
|
NM_024711.6(GIMAP6):c.257G>A (p.Trp86Ter)
|
rs767832540
|
0.00001
|
NM_024818.6(UBA5):c.169A>G (p.Met57Val)
|
rs532178791
|
0.00001
|
NM_024996.7(GFM1):c.1910-1G>A
|
rs1462851267
|
0.00001
|
NM_024996.7(GFM1):c.424del (p.Val142fs)
|
rs886058120
|
0.00001
|
NM_024996.7(GFM1):c.455A>C (p.Gln152Pro)
|
rs780319278
|
0.00001
|
NM_024996.7(GFM1):c.776A>G (p.Asn259Ser)
|
rs375512235
|
0.00001
|
NM_025077.4(TOE1):c.-37T>A
|
rs759654665
|
0.00001
|
NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys)
|
rs759662469
|
0.00001
|
NM_025129.5(FUZ):c.851G>T (p.Arg284Leu)
|
rs368721486
|
0.00001
|
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
|
rs763083098
|
0.00001
|
NM_025150.5(TARS2):c.1036C>T (p.Arg346Cys)
|
rs749476185
|
0.00001
|
NM_025150.5(TARS2):c.326G>A (p.Arg109Gln)
|
rs760526545
|
0.00001
|
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys)
|
rs318240759
|
0.00001
|
NM_025216.3(WNT10A):c.661G>A (p.Gly221Arg)
|
rs775380022
|
0.00001
|
NM_025243.4(SLC19A3):c.1252C>G (p.Gln418Glu)
|
rs368364131
|
0.00001
|
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu)
|
rs764053964
|
0.00001
|
NM_031307.4(PUS3):c.497G>A (p.Arg166Gln)
|
rs200876642
|
0.00001
|
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)
|
rs750506474
|
0.00001
|
NM_031885.5(BBS2):c.471G>A (p.Thr157=)
|
rs749983428
|
0.00001
|
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)
|
rs797045155
|
0.00001
|
NM_032043.3(BRIP1):c.1A>G (p.Met1Val)
|
rs764585550
|
0.00001
|
NM_032043.3(BRIP1):c.206-2A>G
|
rs786203700
|
0.00001
|
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)
|
rs764803896
|
0.00001
|
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)
|
rs730881622
|
0.00001
|
NM_032043.3(BRIP1):c.2905+3A>G
|
rs1555573247
|
0.00001
|
NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs)
|
rs777367075
|
0.00001
|
NM_032043.3(BRIP1):c.627+5G>A
|
rs745727200
|
0.00001
|
NM_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu)
|
rs76091978
|
0.00001
|
NM_032380.5(GFM2):c.64-16_64-3del
|
rs751852874
|
0.00001
|
NM_032608.7(MYO18B):c.3775+1G>C
|
rs539007966
|
0.00001
|
NM_032866.5(CGNL1):c.2322T>C (p.His774=)
|
rs483352760
|
0.00001
|
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly)
|
rs772548770
|
0.00001
|
NM_033109.5(PNPT1):c.337C>T (p.Pro113Ser)
|
rs930190521
|
0.00001
|
NM_033109.5(PNPT1):c.517G>A (p.Ala173Thr)
|
rs774425075
|
0.00001
|
NM_033380.3(COL4A5):c.3899G>C (p.Gly1300Ala)
|
rs1252928330
|
0.00001
|
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys)
|
rs865842167
|
0.00001
|
NM_033409.4(SLC52A3):c.211G>A (p.Glu71Lys)
|
rs267606683
|
0.00001
|
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)
|
rs755919767
|
0.00001
|
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp)
|
rs555811074
|
0.00001
|
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)
|
rs749936057
|
0.00001
|
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)
|
rs749758687
|
0.00001
|
NM_052845.4(MMAB):c.584G>A (p.Arg195His)
|
rs756195708
|
0.00001
|
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr)
|
rs1335391766
|
0.00001
|
NM_053025.4(MYLK):c.535C>T (p.Arg179Ter)
|
rs761508149
|
0.00001
|
NM_053025.4(MYLK):c.901C>T (p.Gln301Ter)
|
rs545515041
|
0.00001
|
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu)
|
rs1554725724
|
0.00001
|
NM_054012.4(ASS1):c.206T>C (p.Val69Ala)
|
rs771594651
|
0.00001
|
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)
|
rs121908643
|
0.00001
|
NM_054012.4(ASS1):c.577G>A (p.Gly193Arg)
|
rs1311437424
|
0.00001
|
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp)
|
rs1043964127
|
0.00001
|
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)
|
rs775163147
|
0.00001
|
NM_058216.3(RAD51C):c.571+4A>G
|
rs587780257
|
0.00001
|
NM_058216.3(RAD51C):c.905-2_905-1del
|
rs587781995
|
0.00001
|
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp)
|
rs730881932
|
0.00001
|
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln)
|
rs779834376
|
0.00001
|
NM_080680.3(COL11A2):c.3850C>T (p.Arg1284Trp)
|
rs886061315
|
0.00001
|
NM_080680.3(COL11A2):c.939+1G>A
|
rs750173113
|
0.00001
|
NM_080916.3(DGUOK):c.757_759del (p.Asn253del)
|
rs775276142
|
0.00001
|
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln)
|
rs535885178
|
0.00001
|
NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr)
|
rs143929819
|
0.00001
|
NM_133259.4(LRPPRC):c.2398G>A (p.Gly800Ser)
|
rs747400412
|
0.00001
|
NM_133259.4(LRPPRC):c.695A>G (p.Glu232Gly)
|
rs765911841
|
0.00001
|
NM_138364.4(PRMT9):c.773A>T (p.Asp258Val)
|
rs200956405
|
0.00001
|
NM_138395.4(MARS2):c.175C>T (p.His59Tyr)
|
rs754121141
|
0.00001
|
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly)
|
rs796052084
|
0.00001
|
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr)
|
rs777601935
|
0.00001
|
NM_138413.4(HOGA1):c.533T>A (p.Leu178Gln)
|
rs796052090
|
0.00001
|
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala)
|
rs779492256
|
0.00001
|
NM_138413.4(HOGA1):c.818T>C (p.Ile273Thr)
|
rs758795356
|
0.00001
|
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)
|
rs777377414
|
0.00001
|
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr)
|
rs1229349983
|
0.00001
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val)
|
rs776845008
|
0.00001
|
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
|
rs369292828
|
0.00001
|
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)
|
rs794727366
|
0.00001
|
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro)
|
rs750588859
|
0.00001
|
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys)
|
rs752646435
|
0.00001
|
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)
|
rs747895516
|
0.00001
|
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)
|
rs748540413
|
0.00001
|
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys)
|
rs141093030
|
0.00001
|
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)
|
rs137852946
|
0.00001
|
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)
|
rs752994816
|
0.00001
|
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)
|
rs764880309
|
0.00001
|
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)
|
rs747322128
|
0.00001
|
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)
|
rs794727759
|
0.00001
|
NM_138694.4(PKHD1):c.8480T>C (p.Leu2827Pro)
|
rs776157924
|
0.00001
|
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr)
|
rs1374086784
|
0.00001
|
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val)
|
rs778329699
|
0.00001
|
NM_139242.4(MTFMT):c.434T>G (p.Val145Gly)
|
rs1064793194
|
0.00001
|
NM_139343.3(BIN1):c.1461+1G>A
|
rs764951306
|
0.00001
|
NM_144573.4(NEXN):c.688-1G>C
|
rs761030548
|
0.00001
|
NM_144672.4(OTOA):c.1249C>T (p.Leu417Phe)
|
rs764182550
|
0.00001
|
NM_144687.4(NLRP12):c.2360dup (p.Met787fs)
|
rs768447330
|
0.00001
|
NM_145207.3(AFG2A):c.1877G>C (p.Trp626Ser)
|
rs375343753
|
0.00001
|
NM_145207.3(AFG2A):c.2321G>A (p.Arg774His)
|
rs539850739
|
0.00001
|
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)
|
rs761707323
|
0.00001
|
NM_152305.3(POGLUT1):c.466T>A (p.Tyr156Asn)
|
rs751780827
|
0.00001
|
NM_152305.3(POGLUT1):c.922T>C (p.Trp308Arg)
|
rs763045710
|
0.00001
|
NM_152393.4(KLHL40):c.100G>C (p.Asp34His)
|
rs778565563
|
0.00001
|
NM_152443.3(RDH12):c.671C>T (p.Thr224Ile)
|
rs200302290
|
0.00001
|
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu)
|
rs367543072
|
0.00001
|
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)
|
rs367543074
|
0.00001
|
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp)
|
rs780598553
|
0.00001
|
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys)
|
rs386834104
|
0.00001
|
NM_152564.5(VPS13B):c.7051-1G>A
|
rs930144563
|
0.00001
|
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)
|
rs771456483
|
0.00001
|
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)
|
rs1357690062
|
0.00001
|
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser)
|
rs142593414
|
0.00001
|
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)
|
rs776730549
|
0.00001
|
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His)
|
rs769611275
|
0.00001
|
NM_153033.5(KCTD7):c.172G>A (p.Gly58Arg)
|
rs750033880
|
0.00001
|
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp)
|
rs754476100
|
0.00001
|
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)
|
rs387907260
|
0.00001
|
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val)
|
rs368001837
|
0.00001
|
NM_153240.5(NPHP3):c.3287T>C (p.Leu1096Pro)
|
rs777276873
|
0.00001
|
NM_153240.5(NPHP3):c.3422T>C (p.Leu1141Pro)
|
rs1057521090
|
0.00001
|
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp)
|
rs548129734
|
0.00001
|
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)
|
rs1017946059
|
0.00001
|
NM_153717.3(EVC):c.928C>G (p.Leu310Val)
|
rs145300726
|
0.00001
|
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)
|
rs267607564
|
0.00001
|
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)
|
rs150840924
|
0.00001
|
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)
|
rs62636506
|
0.00001
|
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)
|
rs267607598
|
0.00001
|
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys)
|
rs28928902
|
0.00001
|
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg)
|
rs786205448
|
0.00001
|
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)
|
rs60864230
|
0.00001
|
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)
|
rs794728591
|
0.00001
|
NM_170707.4(LMNA):c.659G>A (p.Arg220His)
|
rs780066296
|
0.00001
|
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp)
|
rs879253898
|
0.00001
|
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys)
|
rs897976020
|
0.00001
|
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)
|
rs1328584680
|
0.00001
|
NM_173477.5(USH1G):c.1093G>A (p.Asp365Asn)
|
rs538983393
|
0.00001
|
NM_173630.4(RTTN):c.2552C>T (p.Ala851Val)
|
rs374285374
|
0.00001
|
NM_173630.4(RTTN):c.6301T>C (p.Cys2101Arg)
|
rs201253231
|
0.00001
|
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg)
|
rs768892432
|
0.00001
|
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr)
|
rs764603059
|
0.00001
|
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)
|
rs374603772
|
0.00001
|
NM_176787.5(PIGN):c.2237T>G (p.Ile746Arg)
|
rs771266203
|
0.00001
|
NM_176787.5(PIGN):c.562C>T (p.His188Tyr)
|
rs773629540
|
0.00001
|
NM_176787.5(PIGN):c.996T>G (p.Ile332Met)
|
rs1060499763
|
0.00001
|
NM_176869.3(PPA2):c.346C>T (p.Pro116Ser)
|
rs373735128
|
0.00001
|
NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr)
|
rs763320093
|
0.00001
|
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)
|
rs267607017
|
0.00001
|
NM_182894.3(VSX2):c.667G>A (p.Gly223Arg)
|
rs755799430
|
0.00001
|
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp)
|
rs398124571
|
0.00001
|
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser)
|
rs398124576
|
0.00001
|
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys)
|
rs398124580
|
0.00001
|
NM_194248.3(OTOF):c.3277G>A (p.Glu1093Lys)
|
rs1064795233
|
0.00001
|
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys)
|
rs142111099
|
0.00001
|
NM_198253.3(TERT):c.2080G>A (p.Val694Met)
|
rs121918662
|
0.00001
|
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr)
|
rs398123523
|
0.00001
|
NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln)
|
rs1445637165
|
0.00001
|
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile)
|
rs193922728
|
0.00001
|
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)
|
rs1271816211
|
0.00001
|
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg)
|
rs749746650
|
0.00001
|
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp)
|
rs1665481687
|
0.00001
|
NM_201253.3(CRB1):c.4006-10A>G
|
rs766850702
|
0.00001
|
NM_201525.4(ADGRG1):c.1490T>C (p.Leu497Pro)
|
rs587783654
|
0.00001
|
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp)
|
rs1003615909
|
0.00001
|
NM_201548.5(CERKL):c.613+4_613+5del
|
rs766131721
|
0.00001
|
NM_203290.4(POLR1C):c.922+2T>C
|
rs778556895
|
0.00001
|
NM_205861.3(DHDDS):c.724G>A (p.Glu242Lys)
|
rs1229969030
|
0.00001
|
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)
|
rs1172628170
|
0.00001
|
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys)
|
rs1268140508
|
0.00001
|
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His)
|
rs1040917329
|
0.00001
|
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)
|
rs770553471
|
0.00001
|
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)
|
rs1393503590
|
0.00001
|
NM_206933.4(USH2A):c.176G>A (p.Gly59Glu)
|
rs1378799607
|
0.00001
|
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)
|
rs547581739
|
0.00001
|
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg)
|
rs1064793287
|
0.00001
|
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)
|
rs751479180
|
0.00001
|
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)
|
rs139311927
|
0.00001
|
NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro)
|
rs757315203
|
0.00001
|
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro)
|
rs1162305984
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NM_207122.2(EXT2):c.1305+2T>C
|
rs202153611
|
0.00001
|
NM_207361.6(FREM2):c.8176+2dup
|
rs779126010
|
0.00001
|
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp)
|
rs1323349209
|
0.00001
|
NM_213599.3(ANO5):c.368C>T (p.Ser123Leu)
|
rs575008764
|
0.00001
|
NM_213653.4(HJV):c.976C>T (p.Arg326Ter)
|
rs74315324
|
0.00001
|
G6PD NARA
|
rs587776730
|
|
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1
|
|
|
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
|
|
|
GRCh37/hg19 2q21.1(chr2:131477947-131956516)x1
|
|
|
GRCh37/hg19 5p15.2(chr5:11691081-11883119)x1
|
|
|
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1
|
|
|
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1
|
|
|
GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1
|
|
|
NC_000018.9:g.77748581_77748614del34
|
rs535089924
|
|
NC_012920.1(MT-ATP6):m.9035T>C
|
rs1603222000
|
|
NC_012920.1(MT-CYB):m.1630A>G
|
rs1603218588
|
|
NC_012920.1:m.14732A>G
|
rs527236202
|
|
NC_012920.1:m.14743A>G
|
rs527236161
|
|
NC_012920.1:m.14891C>G
|
rs386419981
|
|
NC_012920.1:m.14974C>G
|
rs527236168
|
|
NC_012920.1:m.15349C>A
|
rs527236201
|
|
NC_012920.1:m.15890C>A
|
rs527236196
|
|
NC_012920.1:m.15932T>G
|
rs527236199
|
|
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu)
|
rs760335676
|
|
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr)
|
rs1448376709
|
|
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly)
|
rs875989863
|
|
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala)
|
rs1647188699
|
|
NM_000016.6(ACADM):c.388-19T>A
|
rs1553123252
|
|
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del)
|
rs875989857
|
|
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp)
|
rs1553123263
|
|
NM_000016.6(ACADM):c.494C>T (p.Ala165Val)
|
rs1260394550
|
|
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del)
|
rs1553123869
|
|
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr)
|
rs1647485086
|
|
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr)
|
rs983879715
|
|
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)
|
rs149678400
|
|
NM_000016.6(ACADM):c.946-6T>G
|
rs765793260
|
|
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr)
|
rs202078273
|
|
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser)
|
rs202124189
|
|
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr)
|
rs780571371
|
|
NM_000017.4(ACADS):c.910dup (p.Leu304fs)
|
rs1057516606
|
|
NM_000017.4(ACADS):c.974G>A (p.Arg325Gln)
|
rs932525260
|
|
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val)
|
rs934797393
|
|
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)
|
|
|
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)
|
rs754325237
|
|
NM_000018.4(ACADVL):c.1072A>G (p.Lys358Glu)
|
|
|
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn)
|
rs1331739604
|
|
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)
|
rs776063244
|
|
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr)
|
rs1419478766
|
|
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val)
|
rs2071345754
|
|
NM_000018.4(ACADVL):c.1321G>A (p.Gly441Ser)
|
rs2071346777
|
|
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)
|
rs886043236
|
|
NM_000018.4(ACADVL):c.1376G>C (p.Arg459Pro)
|
rs751995154
|
|
NM_000018.4(ACADVL):c.138+2dup
|
rs1555527548
|
|
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys)
|
rs2071355499
|
|
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro)
|
rs201350598
|
|
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp)
|
rs781613690
|
|
NM_000018.4(ACADVL):c.1678+3_1678+6del
|
rs759135941
|
|
NM_000018.4(ACADVL):c.1808del (p.Cys603fs)
|
rs2142990894
|
|
NM_000018.4(ACADVL):c.1882del (p.Gln628fs)
|
rs1597541142
|
|
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe)
|
rs1452402269
|
|
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe)
|
rs1161495077
|
|
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala)
|
rs796051907
|
|
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln)
|
rs2071160066
|
|
NM_000018.4(ACADVL):c.277G>A (p.Val93Met)
|
|
|
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser)
|
rs398123088
|
|
NM_000018.4(ACADVL):c.430C>G (p.Leu144Val)
|
|
|
NM_000018.4(ACADVL):c.436G>C (p.Val146Leu)
|
rs398123089
|
|
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)
|
rs375284481
|
|
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)
|
rs796051920
|
|
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro)
|
rs1131691808
|
|
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp)
|
rs796051909
|
|
NM_000018.4(ACADVL):c.605T>A (p.Leu202His)
|
rs398123090
|
|
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)
|
rs768975918
|
|
NM_000018.4(ACADVL):c.638C>T (p.Ala213Val)
|
rs2071252145
|
|
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val)
|
rs1192969297
|
|
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile)
|
rs1241935771
|
|
NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys)
|
rs575789958
|
|
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu)
|
rs387906253
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)
|
|
|
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp)
|
rs886042080
|
|
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)
|
rs1591361995
|
|
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)
|
rs866364527
|
|
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro)
|
rs1592224349
|
|
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr)
|
rs1940813707
|
|
NM_000020.3(ACVRL1):c.1246+5G>A
|
rs1940838881
|
|
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu)
|
rs2139084385
|
|
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del)
|
rs1940959480
|
|
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro)
|
rs1057523573
|
|
NM_000020.3(ACVRL1):c.154A>G (p.Thr52Ala)
|
rs1131691346
|
|
NM_000020.3(ACVRL1):c.526-6C>G
|
rs1438077609
|
|
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro)
|
rs1555152790
|
|
NM_000020.3(ACVRL1):c.590C>A (p.Thr197Lys)
|
rs1555152796
|
|
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys)
|
rs754283265
|
|
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)
|
rs762773076
|
|
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe)
|
rs768643771
|
|
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro)
|
rs1565594217
|
|
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu)
|
rs863223411
|
|
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val)
|
rs63751130
|
|
NM_000022.4(ADA):c.1078+2T>C
|
|
|
NM_000022.4(ADA):c.716G>A (p.Gly239Asp)
|
rs1312320956
|
|
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys)
|
rs890921874
|
|
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del)
|
rs1555568383
|
|
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)
|
rs1161291343
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser)
|
rs574376340
|
|
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)
|
rs757481230
|
|
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe)
|
rs750844090
|
|
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly)
|
rs137852623
|
|
NM_000026.4(ADSL):c.-21T>A
|
|
|
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)
|
rs121964907
|
|
NM_000027.4(AGA):c.365C>A (p.Thr122Lys)
|
rs771563230
|
|
NM_000027.4(AGA):c.537C>A (p.Cys179Ter)
|
rs748171793
|
|
NM_000027.4(AGA):c.698+1G>T
|
rs1057517175
|
|
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)
|
rs386833433
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg)
|
rs747043550
|
|
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp)
|
rs180177217
|
|
NM_000030.3(AGXT):c.781C>G (p.His261Asp)
|
rs778567956
|
|
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro)
|
rs180177271
|
|
NM_000032.5(ALAS2):c.1355G>T (p.Arg452Leu)
|
|
|
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
|
rs2091762647
|
|
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)
|
rs2091764510
|
|
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)
|
rs2148399015
|
|
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)
|
rs201774661
|
|
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro)
|
rs2148399201
|
|
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)
|
rs782041940
|
|
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
|
|
|
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro)
|
rs2148399307
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala)
|
rs1603236086
|
|
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del)
|
rs1569540680
|
|
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu)
|
rs398123113
|
|
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)
|
rs1569540710
|
|
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)
|
rs2091709505
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
|
|
|
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)
|
rs1603232243
|
|
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly)
|
rs1557053241
|
|
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu)
|
rs200585150
|
|
NM_000035.4(ALDOB):c.306_317dup (p.Val104_Ile107dup)
|
rs1376128325
|
|
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro)
|
rs1554702433
|
|
NM_000038.6(APC):c.1902T>G (p.Ser634Arg)
|
rs876659460
|
|
NM_000038.6(APC):c.3084T>A (p.Ser1028Arg)
|
rs876660265
|
|
NM_000038.6(APC):c.423-11A>G
|
rs1580358224
|
|
NM_000038.6(APC):c.423-3T>A
|
rs587782293
|
|
NM_000038.6(APC):c.423-3_423-2del
|
rs863225354
|
|
NM_000038.6(APC):c.423-8A>G
|
rs2149614206
|
|
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly)
|
rs138367627
|
|
NM_000038.6(APC):c.645+1G>A
|
rs863225370
|
|
NM_000038.6(APC):c.834G>A (p.Gln278=)
|
rs1060503261
|
|
NM_000038.6(APC):c.8446C>T (p.Arg2816Ter)
|
|
|
NM_000039.3(APOA1):c.548T>C (p.Leu183Pro)
|
|
|
NM_000039.3(APOA1):c.85dup (p.Gln29fs)
|
rs753348565
|
|
NM_000043.6(FAS):c.536T>G (p.Leu179Arg)
|
rs1554851718
|
|
NM_000045.4(ARG1):c.314_345delinsATGCAAGCATCAGGATGACT (p.Ile105_His115delinsAsnAlaSerIleArgMetThr)
|
|
|
NM_000045.4(ARG1):c.860AAG[1] (p.Glu288del)
|
rs1399124034
|
|
NM_000046.5(ARSB):c.1001G>T (p.Ser334Ile)
|
rs1554079311
|
|
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)
|
rs1057520739
|
|
NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu)
|
rs906245021
|
|
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp)
|
rs1554069655
|
|
NM_000046.5(ARSB):c.206C>T (p.Thr69Met)
|
rs1554032175
|
|
NM_000046.5(ARSB):c.323G>T (p.Gly108Val)
|
rs768802200
|
|
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg)
|
rs779378413
|
|
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp)
|
rs1402584432
|
|
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro)
|
rs727503809
|
|
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)
|
rs762614315
|
|
NM_000048.4(ASL):c.1080G>C (p.Met360Ile)
|
rs1786857910
|
|
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg)
|
rs1554328459
|
|
NM_000048.4(ASL):c.1300G>T (p.Val434Leu)
|
rs773071023
|
|
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe)
|
|
|
NM_000048.4(ASL):c.437G>A (p.Arg146Gln)
|
rs796051931
|
|
NM_000048.4(ASL):c.503G>A (p.Arg168His)
|
rs727503811
|
|
NM_000048.4(ASL):c.571C>G (p.Arg191Gly)
|
rs143508372
|
|
NM_000048.4(ASL):c.675C>G (p.Ile225Met)
|
rs1554327265
|
|
NM_000048.4(ASL):c.718+5G>A
|
rs869312990
|
|
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe)
|
rs199565861
|
|
NM_000049.4(ASPA):c.542C>T (p.Pro181Leu)
|
rs1335267315
|
|
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro)
|
rs1555538144
|
|
NM_000051.4(ATM):c.-30-1G>T
|
rs869312754
|
|
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser)
|
rs786203230
|
|
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr)
|
rs876660661
|
|
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)
|
rs786203783
|
|
NM_000051.4(ATM):c.2251-4A>G
|
rs786202935
|
|
NM_000051.4(ATM):c.2377-2A>G
|
rs1057516553
|
|
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg)
|
rs775644968
|
|
NM_000051.4(ATM):c.2466+5G>C
|
rs1064795969
|
|
NM_000051.4(ATM):c.2838+6T>C
|
rs781730571
|
|
NM_000051.4(ATM):c.2921+2dup
|
rs1565424654
|
|
NM_000051.4(ATM):c.2960G>A (p.Cys987Tyr)
|
rs1555085052
|
|
NM_000051.4(ATM):c.3092A>T (p.Glu1031Val)
|
rs758708495
|
|
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)
|
rs568461905
|
|
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser)
|
rs864622654
|
|
NM_000051.4(ATM):c.3994-160T>C
|
rs2082548304
|
|
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)
|
rs730881391
|
|
NM_000051.4(ATM):c.4888G>A (p.Asp1630Asn)
|
rs1555101921
|
|
NM_000051.4(ATM):c.4910-2A>T
|
rs1555103156
|
|
NM_000051.4(ATM):c.497-1G>T
|
rs778624615
|
|
NM_000051.4(ATM):c.5011G>T (p.Val1671Phe)
|
rs1057523385
|
|
NM_000051.4(ATM):c.513C>T (p.Tyr171=)
|
rs786201693
|
|
NM_000051.4(ATM):c.5177+5G>A
|
rs759373136
|
|
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu)
|
rs373789346
|
|
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile)
|
rs587781963
|
|
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys)
|
rs1555110591
|
|
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)
|
rs864622251
|
|
NM_000051.4(ATM):c.6198+3A>G
|
rs786202092
|
|
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser)
|
rs1555114558
|
|
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly)
|
rs1565520641
|
|
NM_000051.4(ATM):c.6899G>C (p.Trp2300Ser)
|
rs1555119899
|
|
NM_000051.4(ATM):c.7013T>C (p.Leu2338Pro)
|
rs1555120997
|
|
NM_000051.4(ATM):c.742C>G (p.Arg248Gly)
|
|
|
NM_000051.4(ATM):c.743G>T (p.Arg248Leu)
|
rs769166447
|
|
NM_000051.4(ATM):c.7630-3C>G
|
rs587782448
|
|
NM_000051.4(ATM):c.7788+3A>G
|
rs869312788
|
|
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp)
|
rs587780639
|
|
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)
|
rs863224440
|
|
NM_000051.4(ATM):c.7927+5del
|
rs786204437
|
|
NM_000051.4(ATM):c.7928-2A>G
|
rs864622610
|
|
NM_000051.4(ATM):c.8150A>G (p.Lys2717Arg)
|
rs1555127353
|
|
NM_000051.4(ATM):c.8151G>A (p.Lys2717=)
|
rs1591192550
|
|
NM_000051.4(ATM):c.8268G>A (p.Lys2756=)
|
rs1555128642
|
|
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)
|
rs1555128642
|
|
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)
|
rs121434216
|
|
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu)
|
rs529296539
|
|
NM_000051.4(ATM):c.8687A>C (p.Gln2896Pro)
|
rs2089494486
|
|
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs)
|
rs1555152058
|
|
NM_000052.7(ATP7A):c.1329del (p.Leu444fs)
|
rs2149083474
|
|
NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro)
|
rs72554639
|
|
NM_000052.7(ATP7A):c.2172G>T (p.Gln724His)
|
rs797045348
|
|
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp)
|
rs797045350
|
|
NM_000052.7(ATP7A):c.2917-4A>G
|
rs2149104823
|
|
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)
|
rs797045365
|
|
NM_000052.7(ATP7A):c.3801+4A>G
|
rs797045387
|
|
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu)
|
rs572122562
|
|
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)
|
rs749363958
|
|
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val)
|
rs587783301
|
|
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys)
|
rs1212479289
|
|
NM_000053.4(ATP7B):c.2120A>G (p.Gln707Arg)
|
|
|
NM_000053.4(ATP7B):c.2122-3C>T
|
rs1593726901
|
|
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala)
|
rs1555291285
|
|
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu)
|
rs766907687
|
|
NM_000053.4(ATP7B):c.2507G>A (p.Gly836Glu)
|
rs773809011
|
|
NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala)
|
|
|
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly)
|
rs752634617
|
|
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile)
|
rs1340729837
|
|
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn)
|
rs540935874
|
|
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)
|
rs121907993
|
|
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys)
|
rs28942076
|
|
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro)
|
rs587783307
|
|
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu)
|
rs778543794
|
|
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly)
|
rs1555286478
|
|
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu)
|
rs1555285911
|
|
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr)
|
rs778825095
|
|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
|
|
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)
|
rs377297166
|
|
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)
|
rs587783315
|
|
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg)
|
rs1555283946
|
|
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)
|
rs1375884723
|
|
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)
|
rs778914828
|
|
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg)
|
rs373748155
|
|
NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro)
|
rs780811477
|
|
NM_000053.4(ATP7B):c.4125-2A>G
|
rs1555282347
|
|
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs)
|
rs1345677703
|
|
NM_000057.4(BLM):c.1221-2A>C
|
rs1555419779
|
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)
|
rs758311406
|
|
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)
|
rs367543029
|
|
NM_000057.4(BLM):c.98+2dup
|
rs1555418016
|
|
NM_000059.4(BRCA2):c.3504G>T (p.Met1168Ile)
|
rs1555283267
|
|
NM_000059.4(BRCA2):c.425+1G>A
|
rs587782590
|
|
NM_000059.4(BRCA2):c.425+2T>C
|
rs876661045
|
|
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile)
|
rs397507713
|
|
NM_000059.4(BRCA2):c.475+4del
|
rs276174848
|
|
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)
|
rs397507359
|
|
NM_000059.4(BRCA2):c.68-2A>G
|
rs769152395
|
|
NM_000059.4(BRCA2):c.681+1G>A
|
rs398122565
|
|
NM_000059.4(BRCA2):c.6849del (p.Ser2284fs)
|
rs761744738
|
|
NM_000059.4(BRCA2):c.6866T>G (p.Leu2289Ter)
|
rs1555285146
|
|
NM_000059.4(BRCA2):c.7007+5G>A
|
rs81002816
|
|
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro)
|
rs80358979
|
|
NM_000059.4(BRCA2):c.7618-10T>G
|
rs864622573
|
|
NM_000059.4(BRCA2):c.7682A>C (p.Gln2561Pro)
|
rs55647716
|
|
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys)
|
rs587782715
|
|
NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg)
|
rs80359002
|
|
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)
|
rs398122591
|
|
NM_000059.4(BRCA2):c.7787G>A (p.Gly2596Glu)
|
rs1064795140
|
|
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del)
|
rs80359682
|
|
NM_000059.4(BRCA2):c.7796A>G (p.Glu2599Gly)
|
rs780715340
|
|
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp)
|
rs80359009
|
|
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val)
|
rs80359009
|
|
NM_000059.4(BRCA2):c.7832A>G (p.Asp2611Gly)
|
rs80359010
|
|
NM_000059.4(BRCA2):c.7847C>T (p.Ser2616Phe)
|
rs1174303167
|
|
NM_000059.4(BRCA2):c.7857G>C (p.Trp2619Cys)
|
rs80359011
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
NM_000059.4(BRCA2):c.7874G>T (p.Arg2625Ile)
|
rs864622552
|
|
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro)
|
rs80359021
|
|
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)
|
rs80359022
|
|
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)
|
rs80359024
|
|
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp)
|
rs80359029
|
|
NM_000059.4(BRCA2):c.8059G>T (p.Val2687Phe)
|
rs80359044
|
|
NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His)
|
rs80359061
|
|
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn)
|
rs41293511
|
|
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala)
|
rs41293513
|
|
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu)
|
rs1060502432
|
|
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del)
|
rs80359698
|
|
NM_000059.4(BRCA2):c.8243G>T (p.Gly2748Val)
|
rs80359071
|
|
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile)
|
rs1434821822
|
|
NM_000059.4(BRCA2):c.8351G>T (p.Arg2784Leu)
|
rs80359076
|
|
NM_000059.4(BRCA2):c.8362T>C (p.Trp2788Arg)
|
rs80359079
|
|
NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser)
|
rs80359080
|
|
NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro)
|
rs28897751
|
|
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu)
|
rs80359083
|
|
NM_000059.4(BRCA2):c.8471G>C (p.Arg2824Thr)
|
rs431825366
|
|
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)
|
rs80359100
|
|
NM_000059.4(BRCA2):c.8487+3A>G
|
rs81002806
|
|
NM_000059.4(BRCA2):c.8754+4A>G
|
rs81002893
|
|
NM_000059.4(BRCA2):c.8954-3C>G
|
rs81002844
|
|
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del)
|
rs80359736
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000059.4(BRCA2):c.9008G>A (p.Gly3003Glu)
|
rs1566253139
|
|
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp)
|
rs397507416
|
|
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro)
|
rs80359161
|
|
NM_000059.4(BRCA2):c.9217G>T (p.Asp3073Tyr)
|
rs876658262
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu)
|
rs80359187
|
|
NM_000059.4(BRCA2):c.9302T>C (p.Leu3101Pro)
|
rs28897758
|
|
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg)
|
rs28897758
|
|
NM_000059.4(BRCA2):c.9364G>C (p.Ala3122Pro)
|
rs587782313
|
|
NM_000059.4(BRCA2):c.9374T>A (p.Leu3125His)
|
rs80359209
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter)
|
rs80359251
|
|
NM_000069.3(CACNA1S):c.1678G>T (p.Ala560Ser)
|
rs763794604
|
|
NM_000069.3(CACNA1S):c.2689A>G (p.Arg897Gly)
|
rs1572039465
|
|
NM_000069.3(CACNA1S):c.4113+1G>A
|
rs1558056376
|
|
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)
|
rs794727895
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly)
|
rs886042895
|
|
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=)
|
rs886043432
|
|
NM_000070.3(CAPN3):c.1745+4_1745+7del
|
rs794727082
|
|
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp)
|
rs770894443
|
|
NM_000070.3(CAPN3):c.2255ACG[1] (p.Asp753del)
|
rs886043333
|
|
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr)
|
rs946415346
|
|
NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser)
|
rs886042296
|
|
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)
|
rs1555420468
|
|
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg)
|
rs1085307995
|
|
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)
|
rs760417941
|
|
NM_000071.3(CBS):c.1064C>T (p.Ala355Val)
|
rs772384826
|
|
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)
|
rs121964968
|
|
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)
|
rs199948079
|
|
NM_000071.3(CBS):c.233C>G (p.Pro78Arg)
|
rs786204608
|
|
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
|
|
|
NM_000071.3(CBS):c.284T>C (p.Ile95Thr)
|
rs1347662650
|
|
NM_000071.3(CBS):c.306G>C (p.Lys102Asn)
|
rs786204609
|
|
NM_000071.3(CBS):c.359A>G (p.Asp120Gly)
|
rs1982750491
|
|
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)
|
rs745704046
|
|
NM_000071.3(CBS):c.502G>A (p.Val168Met)
|
rs121964970
|
|
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)
|
rs794727835
|
|
NM_000071.3(CBS):c.683A>G (p.Asn228Ser)
|
rs1555874803
|
|
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)
|
rs1176770868
|
|
NM_000071.3(CBS):c.808_810del (p.Glu270del)
|
rs760710691
|
|
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)
|
rs141502207
|
|
NM_000074.3(CD40LG):c.755G>A (p.Gly252Asp)
|
|
|
NM_000077.5(CDKN2A):c.203C>T (p.Ala68Val)
|
rs1060501260
|
|
NM_000077.5(CDKN2A):c.251A>C (p.Asp84Ala)
|
rs587782792
|
|
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn)
|
rs121913381
|
|
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu)
|
rs121913386
|
|
NM_000077.5(CDKN2A):c.67G>T (p.Gly23Cys)
|
rs1131691186
|
|
NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe)
|
rs483353046
|
|
NM_000080.4(CHRNE):c.1220-2A>G
|
rs1309292778
|
|
NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?)
|
rs1555546038
|
|
NM_000080.4(CHRNE):c.452_454del (p.Glu151del)
|
rs2151098283
|
|
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)
|
rs121909516
|
|
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln)
|
rs2151097307
|
|
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)
|
rs370019023
|
|
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser)
|
rs80338669
|
|
NM_000081.4(LYST):c.5719A>G (p.Ile1907Val)
|
|
|
NM_000081.4(LYST):c.7460+3_7460+6del
|
|
|
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala)
|
rs1085307989
|
|
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys)
|
rs756199349
|
|
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu)
|
rs1380726444
|
|
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val)
|
rs1460714146
|
|
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val)
|
rs2116373070
|
|
NM_000083.3(CLCN1):c.2789del (p.Pro930fs)
|
rs749552056
|
|
NM_000083.3(CLCN1):c.434-2_434dup
|
rs753470655
|
|
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg)
|
rs369773321
|
|
NM_000083.3(CLCN1):c.685G>A (p.Val229Met)
|
rs761601545
|
|
NM_000083.3(CLCN1):c.980-3C>G
|
rs1802714707
|
|
NM_000088.4(COL1A1):c.3823T>C (p.Trp1275Arg)
|
rs1555571769
|
|
NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val)
|
rs1131692326
|
|
NM_000089.4(COL1A2):c.115G>A (p.Gly39Arg)
|
|
|
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg)
|
rs193922165
|
|
NM_000090.4(COL3A1):c.1232G>A (p.Gly411Glu)
|
rs886038816
|
|
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val)
|
rs2153502692
|
|
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=)
|
rs587779565
|
|
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg)
|
rs1559878824
|
|
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
|
|
|
NM_000091.5(COL4A3):c.190G>C (p.Gly64Arg)
|
rs917643323
|
|
NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp)
|
rs779489401
|
|
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu)
|
rs2072040353
|
|
NM_000091.5(COL4A3):c.2567G>T (p.Gly856Val)
|
|
|
NM_000091.5(COL4A3):c.2585G>C (p.Gly862Ala)
|
|
|
NM_000091.5(COL4A3):c.2593G>A (p.Gly865Ser)
|
rs1559897190
|
|
NM_000091.5(COL4A3):c.2657-1G>T
|
rs373324875
|
|
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)
|
rs1553762113
|
|
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])
|
rs756539994
|
|
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)
|
rs1175052474
|
|
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser)
|
rs920061910
|
|
NM_000091.5(COL4A3):c.997G>A (p.Gly333Arg)
|
rs761819520
|
|
NM_000092.5(COL4A4):c.1293_1310del (p.Lys434_Gly439del)
|
rs1362664502
|
|
NM_000092.5(COL4A4):c.1831G>A (p.Gly611Ser)
|
rs758860164
|
|
NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp)
|
rs2150277040
|
|
NM_000092.5(COL4A4):c.2438G>A (p.Gly813Glu)
|
rs2150251009
|
|
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val)
|
rs1576189036
|
|
NM_000092.5(COL4A4):c.2654G>A (p.Gly885Asp)
|
rs1425028482
|
|
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val)
|
rs1559480099
|
|
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys)
|
rs1158350974
|
|
NM_000092.5(COL4A4):c.4315G>A (p.Gly1439Ser)
|
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
NM_000092.5(COL4A4):c.870G>A (p.Lys290=)
|
rs2060620860
|
|
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys)
|
rs1835194794
|
|
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys)
|
rs2132747882
|
|
NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser)
|
rs863223445
|
|
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg)
|
rs1838467288
|
|
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=)
|
rs863223452
|
|
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn)
|
rs1588615451
|
|
NM_000094.4(COL7A1):c.151C>G (p.Arg51Gly)
|
|
|
NM_000094.4(COL7A1):c.682+5G>A
|
rs767647070
|
|
NM_000094.4(COL7A1):c.846G>A (p.Glu282=)
|
rs770216458
|
|
NM_000095.3(COMP):c.604-2A>C
|
rs1459554830
|
|
NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser)
|
rs1645443275
|
|
NM_000098.3(CPT2):c.1822G>C (p.Asp608His)
|
rs780286639
|
|
NM_000098.3(CPT2):c.371G>C (p.Arg124Pro)
|
rs1131691925
|
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)
|
rs556794126
|
|
NM_000108.5(DLD):c.1463del (p.Pro488fs)
|
rs1554400720
|
|
NM_000110.4(DPYD):c.1764del (p.Arg589fs)
|
rs1346124437
|
|
NM_000111.3(SLC26A3):c.392C>G (p.Pro131Arg)
|
rs386833481
|
|
NM_000116.5(TAFAZZIN):c.284+5G>A
|
|
|
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro)
|
rs397515739
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)
|
rs397515746
|
|
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu)
|
rs1557194488
|
|
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter)
|
rs397515750
|
|
NM_000117.3(EMD):c.548C>T (p.Pro183Leu)
|
rs104894805
|
|
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs)
|
rs770925947
|
|
NM_000124.4(ERCC6):c.1432_1433insTC (p.Lys478fs)
|
rs886047037
|
|
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)
|
rs779140971
|
|
NM_000126.4(ETFA):c.963+1del
|
rs746488455
|
|
NM_000127.3(EXT1):c.568_570del (p.His190del)
|
rs1817877188
|
|
NM_000128.4(F11):c.1288G>T (p.Ala430Ser)
|
|
|
NM_000128.4(F11):c.1481-1G>T
|
rs1057516506
|
|
NM_000128.4(F11):c.218+4A>G
|
rs767240420
|
|
NM_000128.4(F11):c.449C>T (p.Thr150Met)
|
rs1340928778
|
|
NM_000128.4(F11):c.977G>A (p.Arg326His)
|
rs1554082932
|
|
NM_000129.4(F13A1):c.233G>T (p.Arg78Leu)
|
rs768024997
|
|
NM_000130.5(F5):c.1498T>G (p.Cys500Gly)
|
rs1571581722
|
|
NM_000132.4(F8):c.1468A>G (p.Arg490Gly)
|
rs1603435026
|
|
NM_000132.4(F8):c.5815G>C (p.Ala1939Pro)
|
rs1603432979
|
|
NM_000132.4(F8):c.6400T>C (p.Tyr2134His)
|
|
|
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile)
|
rs373079141
|
|
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)
|
rs1416639878
|
|
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His)
|
rs1567635573
|
|
NM_000135.4(FANCA):c.1475A>G (p.His492Arg)
|
rs925457555
|
|
NM_000135.4(FANCA):c.1776+7A>G
|
rs1555552070
|
|
NM_000135.4(FANCA):c.189+2T>A
|
rs2041094594
|
|
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)
|
rs1555547935
|
|
NM_000135.4(FANCA):c.2316+1_2316+3del
|
rs2039275264
|
|
NM_000135.4(FANCA):c.2602-13CT[2]
|
rs577636020
|
|
NM_000135.4(FANCA):c.2638C>G (p.Arg880Gly)
|
rs762804216
|
|
NM_000135.4(FANCA):c.2778+83C>G
|
rs750997715
|
|
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs)
|
rs1405317971
|
|
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)
|
rs545772434
|
|
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)
|
rs1380850249
|
|
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3934+1G>A
|
rs2062087795
|
|
NM_000135.4(FANCA):c.4010+2T>C
|
rs2062067746
|
|
NM_000135.4(FANCA):c.4261-2A>G
|
rs915983602
|
|
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn)
|
rs748856769
|
|
NM_000135.4(FANCA):c.710-10G>A
|
rs2040524006
|
|
NM_000135.4(FANCA):c.826+2T>C
|
rs2143585058
|
|
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)
|
rs1447363475
|
|
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)
|
rs370974124
|
|
NM_000137.4(FAH):c.1097_1099del (p.Ser366del)
|
|
|
NM_000137.4(FAH):c.974C>T (p.Thr325Met)
|
rs770713168
|
|
NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr)
|
rs1555400606
|
|
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr)
|
rs1597581001
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys)
|
rs1303389437
|
|
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu)
|
rs794728185
|
|
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)
|
rs794728290
|
|
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr)
|
rs886039038
|
|
NM_000138.5(FBN1):c.2639G>A (p.Gly880Asp)
|
rs886038953
|
|
NM_000138.5(FBN1):c.2861G>A (p.Arg954His)
|
rs112911555
|
|
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg)
|
rs794728200
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp)
|
rs1555398670
|
|
NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser)
|
rs1555398668
|
|
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg)
|
rs1555407429
|
|
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)
|
rs1366894709
|
|
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)
|
rs1555398512
|
|
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp)
|
rs1555398397
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val)
|
rs1566908083
|
|
NM_000138.5(FBN1):c.4146T>A (p.Asn1382Lys)
|
rs794728218
|
|
NM_000138.5(FBN1):c.4172G>T (p.Cys1391Phe)
|
rs1352478541
|
|
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup)
|
rs1555397404
|
|
NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg)
|
rs794728223
|
|
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala)
|
rs1555397216
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys)
|
rs730880102
|
|
NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro)
|
rs769588424
|
|
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)
|
rs1555396789
|
|
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)
|
rs794728333
|
|
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)
|
rs1555395826
|
|
NM_000138.5(FBN1):c.5788+5G>T
|
rs193922219
|
|
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)
|
rs886038967
|
|
NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr)
|
rs1555395261
|
|
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)
|
rs794728162
|
|
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)
|
rs794728251
|
|
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr)
|
rs1555395189
|
|
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn)
|
rs794728252
|
|
NM_000138.5(FBN1):c.6541T>C (p.Cys2181Arg)
|
rs1131691373
|
|
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr)
|
rs910656654
|
|
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg)
|
rs886038976
|
|
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly)
|
rs1597522584
|
|
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser)
|
rs794728255
|
|
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly)
|
rs1060501032
|
|
NM_000138.5(FBN1):c.6872-14A>G
|
rs1064793119
|
|
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)
|
rs794728262
|
|
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys)
|
rs754047254
|
|
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe)
|
rs1555394398
|
|
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)
|
rs1555394243
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe)
|
rs112118237
|
|
NM_000138.5(FBN1):c.7819+3A>C
|
rs1555394135
|
|
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His)
|
rs113722038
|
|
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr)
|
rs1555401011
|
|
NM_000141.5(FGFR2):c.1274G>A (p.Arg425Gln)
|
|
|
NM_000142.5(FGFR3):c.1663G>C (p.Val555Leu)
|
rs1474187970
|
|
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys)
|
rs886043613
|
|
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)
|
rs727503926
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.157G>A (p.Glu53Lys)
|
rs863224013
|
|
NM_000143.4(FH):c.1A>C (p.Met1Leu)
|
rs776806414
|
|
NM_000143.4(FH):c.214A>C (p.Thr72Pro)
|
rs886039362
|
|
NM_000143.4(FH):c.452T>A (p.Met151Lys)
|
rs1660099266
|
|
NM_000143.4(FH):c.706A>G (p.Thr236Ala)
|
rs1064793126
|
|
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup)
|
rs863223984
|
|
NM_000143.4(FH):c.839G>A (p.Gly280Asp)
|
rs863223969
|
|
NM_000143.4(FH):c.892G>C (p.Ala298Pro)
|
rs201395553
|
|
NM_000143.4(FH):c.937G>A (p.Glu313Lys)
|
rs863224001
|
|
NM_000143.4(FH):c.965T>G (p.Val322Gly)
|
rs863224003
|
|
NM_000143.4(FH):c.988A>C (p.Thr330Pro)
|
rs776313200
|
|
NM_000143.4(FH):c.998G>A (p.Cys333Tyr)
|
rs1553341032
|
|
NM_000144.5(FXN):c.493C>T (p.Arg165Cys)
|
rs138034837
|
|
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val)
|
rs753232669
|
|
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala)
|
rs104894571
|
|
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)
|
rs2056021410
|
|
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro)
|
rs1555560128
|
|
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)
|
rs2056092151
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)
|
rs776008078
|
|
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn)
|
rs1555600179
|
|
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del)
|
rs1555600235
|
|
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965
|
|
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)
|
rs1428112902
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)
|
rs2143891559
|
|
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe)
|
rs1265892085
|
|
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)
|
rs1555601633
|
|
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)
|
rs398123172
|
|
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg)
|
rs1555601773
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu)
|
rs752921215
|
|
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg)
|
rs1555602703
|
|
NM_000152.5(GAA):c.2799+2C>A
|
rs1555603318
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
NM_000152.5(GAA):c.546+5G>T
|
rs756024023
|
|
NM_000152.5(GAA):c.569G>T (p.Arg190Leu)
|
rs528367092
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
NM_000152.5(GAA):c.732G>C (p.Gln244His)
|
rs1178922366
|
|
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
NM_000153.4(GALC):c.136G>C (p.Asp46His)
|
rs751975987
|
|
NM_000153.4(GALC):c.1400C>T (p.Thr467Ile)
|
rs750431739
|
|
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)
|
rs202135871
|
|
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter)
|
rs1884501856
|
|
NM_000153.4(GALC):c.203C>T (p.Ser68Phe)
|
rs1555383892
|
|
NM_000153.4(GALC):c.411_413del (p.Lys139del)
|
rs1555383687
|
|
NM_000153.4(GALC):c.578T>C (p.Ile193Thr)
|
rs1555383498
|
|
NM_000153.4(GALC):c.680A>G (p.Asp227Gly)
|
rs1886495923
|
|
NM_000153.4(GALC):c.830G>A (p.Ser277Asn)
|
rs1886145312
|
|
NM_000154.2(GALK1):c.130C>T (p.His44Tyr)
|
rs1555748926
|
|
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn)
|
rs775317639
|
|
NM_000155.4(GALT):c.203A>C (p.His68Pro)
|
rs193922247
|
|
NM_000155.4(GALT):c.329G>A (p.Gly110Glu)
|
rs1057523885
|
|
NM_000155.4(GALT):c.385A>T (p.Met129Leu)
|
rs193922248
|
|
NM_000155.4(GALT):c.394C>T (p.His132Tyr)
|
rs111033688
|
|
NM_000155.4(GALT):c.405G>A (p.Ser135=)
|
rs141232328
|
|
NM_000155.4(GALT):c.547C>A (p.Pro183Thr)
|
rs111033721
|
|
NM_000155.4(GALT):c.552C>A (p.His184Gln)
|
rs111033717
|
|
NM_000155.4(GALT):c.572C>T (p.Ala191Val)
|
rs794727838
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
NM_000155.4(GALT):c.812A>G (p.Glu271Gly)
|
rs111033765
|
|
NM_000155.4(GALT):c.893T>C (p.Met298Thr)
|
rs886042064
|
|
NM_000156.6(GAMT):c.274A>G (p.Asn92Asp)
|
|
|
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp)
|
rs760101382
|
|
NM_000157.4(GBA1):c.1227C>A (p.Asn409Lys)
|
rs749227753
|
|
NM_000157.4(GBA1):c.680_681delinsGG (p.Asn227Arg)
|
rs786200979
|
|
NM_000157.4(GBA1):c.706C>T (p.Leu236Phe)
|
rs1671865905
|
|
NM_000158.4(GBE1):c.1336-1G>A
|
rs375253942
|
|
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr)
|
rs1456579860
|
|
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)
|
rs1367364158
|
|
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)
|
rs754525424
|
|
NM_000158.4(GBE1):c.992+2T>G
|
rs772349876
|
|
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val)
|
rs778153326
|
|
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro)
|
rs1555751379
|
|
NM_000159.4(GCDH):c.203G>C (p.Arg68Thr)
|
rs1417389111
|
|
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)
|
rs566417795
|
|
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)
|
rs139851890
|
|
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr)
|
rs1555749927
|
|
NM_000159.4(GCDH):c.528C>G (p.Cys176Trp)
|
rs756345321
|
|
NM_000159.4(GCDH):c.566G>C (p.Ser189Thr)
|
rs764774411
|
|
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln)
|
rs121434373
|
|
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)
|
rs964724051
|
|
NM_000159.4(GCDH):c.91+5G>A
|
rs952356983
|
|
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu)
|
rs794726972
|
|
NM_000161.3(GCH1):c.305T>C (p.Met102Thr)
|
rs2140127042
|
|
NM_000161.3(GCH1):c.400G>A (p.Asp134Asn)
|
rs1353623780
|
|
NM_000161.3(GCH1):c.689T>C (p.Met230Thr)
|
rs2140038798
|
|
NM_000161.3(GCH1):c.745A>G (p.Arg249Gly)
|
rs2039600745
|
|
NM_000162.5(GCK):c.1020-10C>A
|
rs193922257
|
|
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn)
|
rs1064793134
|
|
NM_000162.5(GCK):c.1113C>G (p.Cys371Trp)
|
rs556581174
|
|
NM_000162.5(GCK):c.1130G>A (p.Arg377His)
|
rs193922264
|
|
NM_000162.5(GCK):c.113A>C (p.Gln38Pro)
|
rs1064794268
|
|
NM_000162.5(GCK):c.1147T>C (p.Ser383Pro)
|
rs749298368
|
|
NM_000162.5(GCK):c.1151C>T (p.Ala384Val)
|
rs1583591747
|
|
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro)
|
rs193922268
|
|
NM_000162.5(GCK):c.115_117del (p.Lys39del)
|
rs2096283216
|
|
NM_000162.5(GCK):c.1160C>T (p.Ala387Val)
|
rs193921338
|
|
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp)
|
rs2096271482
|
|
NM_000162.5(GCK):c.1174C>G (p.Arg392Gly)
|
rs1167124132
|
|
NM_000162.5(GCK):c.1229G>A (p.Gly410Asp)
|
rs1554334546
|
|
NM_000162.5(GCK):c.122T>C (p.Met41Thr)
|
rs1057524906
|
|
NM_000162.5(GCK):c.1247A>C (p.His416Pro)
|
rs1583591303
|
|
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu)
|
rs1554334478
|
|
NM_000162.5(GCK):c.134T>C (p.Leu45Pro)
|
rs1131691598
|
|
NM_000162.5(GCK):c.158C>T (p.Ala53Val)
|
rs2128823130
|
|
NM_000162.5(GCK):c.215G>A (p.Gly72Glu)
|
rs2128822720
|
|
NM_000162.5(GCK):c.364C>A (p.Leu122Ile)
|
rs1554335616
|
|
NM_000162.5(GCK):c.364C>G (p.Leu122Val)
|
rs1554335616
|
|
NM_000162.5(GCK):c.389T>C (p.Ile130Thr)
|
|
|
NM_000162.5(GCK):c.477C>G (p.Ile159Met)
|
rs1554335567
|
|
NM_000162.5(GCK):c.478G>A (p.Asp160Asn)
|
rs1554335566
|
|
NM_000162.5(GCK):c.491T>C (p.Leu164Pro)
|
rs2096278847
|
|
NM_000162.5(GCK):c.540T>G (p.Asn180Lys)
|
rs1554335444
|
|
NM_000162.5(GCK):c.566T>C (p.Ile189Thr)
|
rs1554335441
|
|
NM_000162.5(GCK):c.572G>A (p.Arg191Gln)
|
rs886042610
|
|
NM_000162.5(GCK):c.595G>A (p.Val199Met)
|
rs1554335417
|
|
NM_000162.5(GCK):c.601G>T (p.Ala201Ser)
|
rs794727775
|
|
NM_000162.5(GCK):c.610A>G (p.Asn204Asp)
|
rs2128821512
|
|
NM_000162.5(GCK):c.623C>T (p.Ala208Val)
|
rs746913146
|
|
NM_000162.5(GCK):c.688T>C (p.Cys230Arg)
|
rs794727839
|
|
NM_000162.5(GCK):c.730G>A (p.Val244Met)
|
rs1240035630
|
|
NM_000162.5(GCK):c.737G>A (p.Gly246Glu)
|
rs1583596522
|
|
NM_000162.5(GCK):c.748C>T (p.Arg250Cys)
|
rs1057524904
|
|
NM_000162.5(GCK):c.772G>A (p.Gly258Ser)
|
rs1583596378
|
|
NM_000162.5(GCK):c.871A>G (p.Lys291Glu)
|
rs193922335
|
|
NM_000162.5(GCK):c.878T>C (p.Ile293Thr)
|
rs2128820046
|
|
NM_000166.6(GJB1):c.109G>T (p.Val37Leu)
|
rs1057518946
|
|
NM_000166.6(GJB1):c.113T>G (p.Val38Gly)
|
rs863224612
|
|
NM_000166.6(GJB1):c.136G>A (p.Asp46Asn)
|
|
|
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro)
|
rs913934445
|
|
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg)
|
rs1602348876
|
|
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg)
|
rs1555937077
|
|
NM_000166.6(GJB1):c.215C>T (p.Ser72Phe)
|
rs2092543301
|
|
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn)
|
rs876661119
|
|
NM_000166.6(GJB1):c.376C>T (p.His126Tyr)
|
rs879253995
|
|
NM_000166.6(GJB1):c.392T>G (p.Leu131Arg)
|
rs1555937166
|
|
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys)
|
rs1555937009
|
|
NM_000166.6(GJB1):c.526_555dup (p.Thr176_Thr185dup)
|
rs1555937221
|
|
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu)
|
rs1555937244
|
|
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1])
|
rs116840823
|
|
NM_000166.6(GJB1):c.610C>A (p.Leu204Ile)
|
rs1064795540
|
|
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
|
rs1060501002
|
|
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)
|
rs1602348662
|
|
NM_000166.6(GJB1):c.83T>C (p.Ile28Thr)
|
rs768834663
|
|
NM_000168.6(GLI3):c.1880A>G (p.His627Arg)
|
|
|
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu)
|
rs730880441
|
|
NM_000169.3(GLA):c.1116_1117delinsAT (p.Gly373Cys)
|
rs1928127475
|
|
NM_000169.3(GLA):c.1124G>C (p.Gly375Ala)
|
rs869312164
|
|
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)
|
rs781838005
|
|
NM_000169.3(GLA):c.254G>T (p.Gly85Val)
|
rs1569304898
|
|
NM_000169.3(GLA):c.265C>T (p.Leu89Phe)
|
rs1555986305
|
|
NM_000169.3(GLA):c.281G>T (p.Cys94Phe)
|
rs113173389
|
|
NM_000169.3(GLA):c.400T>G (p.Tyr134Asp)
|
rs727503951
|
|
NM_000169.3(GLA):c.500T>C (p.Leu167Pro)
|
rs1928319806
|
|
NM_000169.3(GLA):c.607G>A (p.Glu203Lys)
|
rs869312345
|
|
NM_000169.3(GLA):c.639+4A>T
|
rs398123215
|
|
NM_000169.3(GLA):c.641C>T (p.Pro214Leu)
|
rs869312150
|
|
NM_000169.3(GLA):c.692A>C (p.Asp231Ala)
|
rs1569303295
|
|
NM_000169.3(GLA):c.717A>G (p.Ile239Met)
|
rs1928192530
|
|
NM_000169.3(GLA):c.758T>C (p.Ile253Thr)
|
rs727505292
|
|
NM_000170.3(GLDC):c.1595C>G (p.Thr532Arg)
|
rs386833527
|
|
NM_000170.3(GLDC):c.1654A>G (p.Met552Val)
|
rs386833529
|
|
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn)
|
rs1554646634
|
|
NM_000170.3(GLDC):c.1832T>G (p.Val611Gly)
|
rs386833533
|
|
NM_000170.3(GLDC):c.1926+5G>A
|
rs1554644678
|
|
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del)
|
rs769625871
|
|
NM_000170.3(GLDC):c.2259C>G (p.His753Gln)
|
rs2129719894
|
|
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser)
|
rs386833551
|
|
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val)
|
rs750384225
|
|
NM_000170.3(GLDC):c.2519T>A (p.Met840Lys)
|
rs386833561
|
|
NM_000170.3(GLDC):c.2521G>C (p.Ala841Pro)
|
rs386833562
|
|
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del)
|
rs1554642294
|
|
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn)
|
rs1554641505
|
|
NM_000170.3(GLDC):c.560C>G (p.Thr187Arg)
|
rs386833582
|
|
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys)
|
rs386833584
|
|
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys)
|
rs1597638398
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)
|
rs750528093
|
|
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del)
|
rs1064793600
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del)
|
rs587782858
|
|
NM_000179.3(MSH6):c.2591G>A (p.Gly864Glu)
|
rs587781306
|
|
NM_000179.3(MSH6):c.2873A>G (p.Gln958Arg)
|
rs876660185
|
|
NM_000179.3(MSH6):c.2927G>A (p.Arg976His)
|
rs63751113
|
|
NM_000179.3(MSH6):c.3023C>T (p.Thr1008Ile)
|
rs1558667779
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro)
|
rs587779254
|
|
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly)
|
rs63750617
|
|
NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp)
|
rs1316409501
|
|
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser)
|
rs587779264
|
|
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys)
|
rs587779264
|
|
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)
|
rs376799914
|
|
NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del)
|
rs63751427
|
|
NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp)
|
rs587779935
|
|
NM_000179.3(MSH6):c.3691GTT[1] (p.Val1232del)
|
rs587779284
|
|
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del)
|
rs876658650
|
|
NM_000179.3(MSH6):c.3802-7_3802-4del
|
rs876661171
|
|
NM_000179.3(MSH6):c.3927_3938dup (p.Glu1310_Ile1313dup)
|
rs1670125444
|
|
NM_000179.3(MSH6):c.3947G>A (p.Gly1316Glu)
|
rs876661174
|
|
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)
|
rs1553333753
|
|
NM_000179.3(MSH6):c.4002-6_4002-1del
|
rs1670205307
|
|
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)
|
rs587779318
|
|
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu)
|
rs61750184
|
|
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg)
|
rs768206746
|
|
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)
|
|
|
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr)
|
rs1302470051
|
|
NM_000181.4(GUSB):c.1534G>A (p.Gly512Arg)
|
rs794726973
|
|
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe)
|
rs2149118712
|
|
NM_000186.4(CFH):c.58G>A (p.Asp20Asn)
|
rs1553270437
|
|
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)
|
rs536814318
|
|
NM_000190.4(HMBS):c.655G>A (p.Ala219Thr)
|
rs767103817
|
|
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys)
|
rs1287973337
|
|
NM_000193.4(SHH):c.1222GGC[5] (p.Gly411dup)
|
rs769920627
|
|
NM_000193.4(SHH):c.424G>A (p.Glu142Lys)
|
|
|
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn)
|
rs1064794815
|
|
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys)
|
rs1567914835
|
|
NM_000199.5(SGSH):c.1380del (p.Leu461fs)
|
rs1555620092
|
|
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)
|
rs1131691434
|
|
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
|
|
|
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)
|
rs34520362
|
|
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu)
|
rs104894635
|
|
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)
|
rs765361603
|
|
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg)
|
rs1385473515
|
|
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala)
|
rs758756630
|
|
NM_000202.8(IDS):c.121_123del (p.Leu41del)
|
rs2124066296
|
|
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg)
|
rs199422229
|
|
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu)
|
rs2123994251
|
|
NM_000202.8(IDS):c.1494del (p.Arg498fs)
|
|
|
NM_000202.8(IDS):c.187A>G (p.Asn63Asp)
|
rs193302909
|
|
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs)
|
rs1715314710
|
|
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)
|
|
|
NM_000206.3(IL2RG):c.545G>A (p.Cys182Tyr)
|
rs1064794027
|
|
NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg)
|
rs1569479909
|
|
NM_000206.3(IL2RG):c.924G>A (p.Ser308=)
|
rs2092255386
|
|
NM_000207.3(INS):c.125T>C (p.Val42Ala)
|
rs886037863
|
|
NM_000207.3(INS):c.299G>A (p.Cys100Tyr)
|
|
|
NM_000208.4(INSR):c.356C>T (p.Ala119Val)
|
|
|
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro)
|
rs1598694640
|
|
NM_000212.3(ITGB3):c.362-1G>A
|
rs1567764299
|
|
NM_000213.5(ITGB4):c.2550+1G>A
|
rs545619665
|
|
NM_000214.3(JAG1):c.1339T>C (p.Cys447Arg)
|
rs863223651
|
|
NM_000214.3(JAG1):c.463G>C (p.Ala155Pro)
|
|
|
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys)
|
rs794727618
|
|
NM_000214.3(JAG1):c.62T>C (p.Leu21Pro)
|
rs876660977
|
|
NM_000214.3(JAG1):c.64T>C (p.Cys22Arg)
|
rs1555831004
|
|
NM_000214.3(JAG1):c.820G>A (p.Gly274Ser)
|
rs2122615095
|
|
NM_000215.4(JAK3):c.1207C>T (p.Arg403Cys)
|
|
|
NM_000215.4(JAK3):c.1915-1G>A
|
|
|
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)
|
rs149452625
|
|
NM_000218.3(KCNQ1):c.1031C>A (p.Ala344Glu)
|
rs199472763
|
|
NM_000218.3(KCNQ1):c.1049G>T (p.Gly350Val)
|
rs794728524
|
|
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His)
|
rs199472767
|
|
NM_000218.3(KCNQ1):c.1178A>T (p.Lys393Met)
|
rs199472775
|
|
NM_000218.3(KCNQ1):c.1685G>T (p.Arg562Met)
|
rs199472802
|
|
NM_000218.3(KCNQ1):c.1771C>T (p.Arg591Cys)
|
rs199473483
|
|
NM_000218.3(KCNQ1):c.1810dup (p.Gln604fs)
|
rs1848361555
|
|
NM_000218.3(KCNQ1):c.526T>C (p.Trp176Arg)
|
rs1554892900
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
NM_000218.3(KCNQ1):c.556G>A (p.Gly186Ser)
|
rs199473398
|
|
NM_000218.3(KCNQ1):c.580G>C (p.Ala194Pro)
|
rs199472699
|
|
NM_000218.3(KCNQ1):c.677C>T (p.Ala226Val)
|
rs199472707
|
|
NM_000218.3(KCNQ1):c.797T>G (p.Leu266Arg)
|
rs199473460
|
|
NM_000218.3(KCNQ1):c.850_852del (p.Glu284del)
|
rs1064796353
|
|
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)
|
rs120074186
|
|
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser)
|
rs199472753
|
|
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys)
|
rs199473645
|
|
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp)
|
rs199473362
|
|
NM_000222.3(KIT):c.1669T>G (p.Trp557Gly)
|
rs121913235
|
|
NM_000222.3(KIT):c.1670G>C (p.Trp557Ser)
|
rs1057520032
|
|
NM_000222.3(KIT):c.1675G>A (p.Val559Ile)
|
rs121913520
|
|
NM_000222.3(KIT):c.1961T>C (p.Val654Ala)
|
rs121913523
|
|
NM_000222.3(KIT):c.2009C>T (p.Thr670Ile)
|
rs121913516
|
|
NM_000222.3(KIT):c.2447A>T (p.Asp816Val)
|
rs121913507
|
|
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys)
|
rs121913514
|
|
NM_000228.3(LAMB3):c.3G>A (p.Met1Ile)
|
|
|
NM_000228.3(LAMB3):c.947G>A (p.Cys316Tyr)
|
rs1553277738
|
|
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)
|
rs781760379
|
|
NM_000231.3(SGCG):c.575T>G (p.Leu192Arg)
|
rs1555245351
|
|
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs)
|
rs1207685911
|
|
NM_000232.5(SGCB):c.243+3_243+6del
|
rs1553940660
|
|
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala)
|
rs1018529334
|
|
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)
|
rs104893871
|
|
NM_000232.5(SGCB):c.346A>G (p.Met116Val)
|
rs752168132
|
|
NM_000232.5(SGCB):c.753+5G>A
|
rs936193061
|
|
NM_000235.4(LIPA):c.1052ACG[1] (p.Asp352del)
|
rs767207643
|
|
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg)
|
rs1554866097
|
|
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg)
|
rs766364179
|
|
NM_000237.3(LPL):c.995C>T (p.Thr332Ile)
|
rs2128838568
|
|
NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn)
|
rs199472905
|
|
NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg)
|
rs794728370
|
|
NM_000238.4(KCNH2):c.1520C>T (p.Pro507Leu)
|
rs794728372
|
|
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp)
|
rs199472915
|
|
NM_000238.4(KCNH2):c.1849T>C (p.Phe617Leu)
|
rs796052195
|
|
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=)
|
rs794728384
|
|
NM_000238.4(KCNH2):c.2390C>A (p.Ala797Asp)
|
rs794728389
|
|
NM_000238.4(KCNH2):c.2417G>A (p.Gly806Glu)
|
rs199473000
|
|
NM_000238.4(KCNH2):c.2468G>A (p.Arg823Gln)
|
rs1064793147
|
|
NM_000238.4(KCNH2):c.296A>G (p.Tyr99Cys)
|
rs199472854
|
|
NM_000238.4(KCNH2):c.3007G>T (p.Asp1003Tyr)
|
rs794728402
|
|
NM_000238.4(KCNH2):c.3125T>C (p.Leu1042Pro)
|
rs886039064
|
|
NM_000238.4(KCNH2):c.387C>G (p.Phe129Leu)
|
rs764831888
|
|
NM_000238.4(KCNH2):c.916+1G>A
|
|
|
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr)
|
rs199473487
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu)
|
rs104895089
|
|
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs)
|
rs1355225244
|
|
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)
|
rs104895093
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs)
|
rs104895138
|
|
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys)
|
rs121913246
|
|
NM_000249.4(MLH1):c.1039-3C>G
|
rs730881737
|
|
NM_000249.4(MLH1):c.1178T>C (p.Leu393Pro)
|
rs786203413
|
|
NM_000249.4(MLH1):c.1595G>A (p.Gly532Asp)
|
rs2084640841
|
|
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp)
|
rs267607843
|
|
NM_000249.4(MLH1):c.1652A>C (p.Asn551Thr)
|
rs63750271
|
|
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)
|
rs63751596
|
|
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val)
|
rs1559578814
|
|
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser)
|
rs587781796
|
|
NM_000249.4(MLH1):c.1731+1G>C
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe)
|
rs63751713
|
|
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del)
|
rs63750486
|
|
NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser)
|
rs587778952
|
|
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly)
|
rs1064795693
|
|
NM_000249.4(MLH1):c.1897-2A>G
|
rs267607871
|
|
NM_000249.4(MLH1):c.200G>T (p.Gly67Val)
|
rs63749939
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val)
|
rs63750864
|
|
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly)
|
rs587778985
|
|
NM_000249.4(MLH1):c.2262del (p.Arg755fs)
|
rs267607904
|
|
NM_000249.4(MLH1):c.292G>A (p.Gly98Ser)
|
rs267607725
|
|
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser)
|
rs267607726
|
|
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)
|
rs63750453
|
|
NM_000249.4(MLH1):c.344T>A (p.Ile115Asn)
|
rs764120517
|
|
NM_000249.4(MLH1):c.439G>C (p.Gly147Arg)
|
rs267607747
|
|
NM_000249.4(MLH1):c.545+4_545+5del
|
|
|
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)
|
rs63751711
|
|
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp)
|
rs63750555
|
|
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro)
|
rs63751448
|
|
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu)
|
rs876658657
|
|
NM_000251.2(MSH2):c.-82G>C
|
rs866991159
|
|
NM_000251.3(MSH2):c.1033_1034insTAT (p.Gln344_Trp345insLeu)
|
rs587782374
|
|
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr)
|
rs63751604
|
|
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del)
|
rs587779082
|
|
NM_000251.3(MSH2):c.1661+5G>T
|
rs267607972
|
|
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro)
|
rs1553368561
|
|
NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1871T>G (p.Ile624Ser)
|
rs1114167870
|
|
NM_000251.3(MSH2):c.1890A>T (p.Gly630=)
|
|
|
NM_000251.3(MSH2):c.19G>T (p.Glu7Ter)
|
rs375561490
|
|
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys)
|
rs63751668
|
|
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)
|
rs587779133
|
|
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu)
|
rs63751432
|
|
NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu)
|
rs63751155
|
|
NM_000251.3(MSH2):c.2459-12A>G
|
rs267608012
|
|
NM_000251.3(MSH2):c.2680dup (p.Met894fs)
|
rs876658211
|
|
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro)
|
rs63751291
|
|
NM_000251.3(MSH2):c.646-1G>T
|
rs1114167888
|
|
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)
|
rs587779976
|
|
NM_000251.3(MSH2):c.942+3A>G
|
rs193922376
|
|
NM_000252.3(MTM1):c.1260+5G>A
|
rs587783769
|
|
NM_000252.3(MTM1):c.1291G>A (p.Asp431Asn)
|
rs886044782
|
|
NM_000252.3(MTM1):c.1537_1564delinsAACTGGA (p.Phe513_Leu522delinsAsnTrpIle)
|
rs398123271
|
|
NM_000253.4(MTTP):c.-149C>A
|
rs886058955
|
|
NM_000255.4(MMUT):c.1942G>A (p.Gly648Ser)
|
|
|
NM_000255.4(MMUT):c.1956+2T>C
|
rs750619189
|
|
NM_000255.4(MMUT):c.912-1G>A
|
rs1561957527
|
|
NM_000256.3(MYBPC3):c.1224-19G>A
|
rs587776699
|
|
NM_000256.3(MYBPC3):c.1505G>T (p.Arg502Leu)
|
rs397515907
|
|
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)
|
rs727504287
|
|
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg)
|
rs397515912
|
|
NM_000256.3(MYBPC3):c.1654G>T (p.Ala552Ser)
|
rs727504887
|
|
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)
|
rs371564200
|
|
NM_000256.3(MYBPC3):c.1927+1G>A
|
rs2142859053
|
|
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu)
|
rs397515938
|
|
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu)
|
rs375675796
|
|
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)
|
rs727504288
|
|
NM_000256.3(MYBPC3):c.2449C>G (p.Arg817Gly)
|
rs727503188
|
|
NM_000256.3(MYBPC3):c.2450G>C (p.Arg817Pro)
|
rs397515964
|
|
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)
|
rs775404728
|
|
NM_000256.3(MYBPC3):c.2543C>A (p.Ala848Glu)
|
rs730880569
|
|
NM_000256.3(MYBPC3):c.2905+5G>T
|
rs193922381
|
|
NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val)
|
rs397515993
|
|
NM_000256.3(MYBPC3):c.2942A>C (p.Gln981Pro)
|
rs730880582
|
|
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)
|
rs730880674
|
|
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)
|
rs187705120
|
|
NM_000256.3(MYBPC3):c.3584G>T (p.Gly1195Val)
|
rs730880595
|
|
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val)
|
rs727504259
|
|
NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys)
|
rs730880602
|
|
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys)
|
rs730880603
|
|
NM_000256.3(MYBPC3):c.3815-1G>A
|
rs397516044
|
|
NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp)
|
rs727504380
|
|
NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile)
|
rs397516045
|
|
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser)
|
rs397516053
|
|
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His)
|
rs730880624
|
|
NM_000256.3(MYBPC3):c.821+3G>T
|
rs727503213
|
|
NM_000256.3(MYBPC3):c.821+5G>A
|
rs397516077
|
|
NM_000256.3(MYBPC3):c.905+1G>T
|
rs767698543
|
|
NM_000257.4(MYH7):c.1003G>C (p.Ala335Pro)
|
rs727503272
|
|
NM_000257.4(MYH7):c.1148A>G (p.Lys383Arg)
|
rs397516092
|
|
NM_000257.4(MYH7):c.1166G>A (p.Gly389Glu)
|
rs727503268
|
|
NM_000257.4(MYH7):c.1180G>A (p.Asp394Asn)
|
rs397516093
|
|
NM_000257.4(MYH7):c.1283C>T (p.Ala428Val)
|
rs727503266
|
|
NM_000257.4(MYH7):c.1318G>A (p.Val440Met)
|
rs397516098
|
|
NM_000257.4(MYH7):c.1319T>C (p.Val440Ala)
|
rs1244840759
|
|
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser)
|
rs730880159
|
|
NM_000257.4(MYH7):c.1358G>T (p.Arg453Leu)
|
rs397516101
|
|
NM_000257.4(MYH7):c.1479G>A (p.Met493Ile)
|
rs730880876
|
|
NM_000257.4(MYH7):c.1532T>C (p.Ile511Thr)
|
rs397516110
|
|
NM_000257.4(MYH7):c.1664A>G (p.Asn555Ser)
|
rs876661215
|
|
NM_000257.4(MYH7):c.1757T>C (p.Val586Ala)
|
rs397516121
|
|
NM_000257.4(MYH7):c.1805A>G (p.Asn602Ser)
|
rs730880880
|
|
NM_000257.4(MYH7):c.2051T>C (p.Met684Thr)
|
rs606231332
|
|
NM_000257.4(MYH7):c.2063T>C (p.Leu688Pro)
|
rs730880731
|
|
NM_000257.4(MYH7):c.2069T>C (p.Met690Thr)
|
rs397516128
|
|
NM_000257.4(MYH7):c.2129C>A (p.Pro710His)
|
rs727504272
|
|
NM_000257.4(MYH7):c.2129C>T (p.Pro710Leu)
|
rs727504272
|
|
NM_000257.4(MYH7):c.2149G>A (p.Asp717Asn)
|
rs1057524857
|
|
NM_000257.4(MYH7):c.2153T>G (p.Phe718Cys)
|
rs1060501432
|
|
NM_000257.4(MYH7):c.2198G>A (p.Gly733Glu)
|
rs727504241
|
|
NM_000257.4(MYH7):c.2213G>C (p.Ser738Thr)
|
rs730880894
|
|
NM_000257.4(MYH7):c.2284A>G (p.Lys762Glu)
|
|
|
NM_000257.4(MYH7):c.2287G>A (p.Val763Met)
|
rs727504253
|
|
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn)
|
rs730880895
|
|
NM_000257.4(MYH7):c.2347C>T (p.Arg783Cys)
|
rs727503258
|
|
NM_000257.4(MYH7):c.2455C>T (p.Arg819Trp)
|
rs1064793206
|
|
NM_000257.4(MYH7):c.2467G>C (p.Gly823Arg)
|
rs1566531657
|
|
NM_000257.4(MYH7):c.2471T>C (p.Val824Ala)
|
rs727503255
|
|
NM_000257.4(MYH7):c.2473A>C (p.Lys825Gln)
|
rs730880743
|
|
NM_000257.4(MYH7):c.2497T>C (p.Tyr833His)
|
rs730880746
|
|
NM_000257.4(MYH7):c.2525G>A (p.Ser842Asn)
|
rs397516154
|
|
NM_000257.4(MYH7):c.2572C>G (p.Arg858Gly)
|
rs2754158
|
|
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu)
|
rs730880749
|
|
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro)
|
rs727504356
|
|
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)
|
rs138049878
|
|
NM_000257.4(MYH7):c.2609G>T (p.Arg870Leu)
|
rs36211715
|
|
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile)
|
rs1060505018
|
|
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del)
|
rs193922387
|
|
NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu)
|
rs727503254
|
|
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val)
|
rs727503254
|
|
NM_000257.4(MYH7):c.2707G>A (p.Glu903Lys)
|
rs730880756
|
|
NM_000257.4(MYH7):c.2714G>C (p.Cys905Ser)
|
rs730880757
|
|
NM_000257.4(MYH7):c.2783A>T (p.Asp928Val)
|
rs727504558
|
|
NM_000257.4(MYH7):c.2821C>T (p.Arg941Cys)
|
rs750435648
|
|
NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)
|
rs121913629
|
|
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn)
|
rs886039204
|
|
NM_000257.4(MYH7):c.3020T>C (p.Leu1007Pro)
|
rs730880763
|
|
NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys)
|
rs727504274
|
|
NM_000257.4(MYH7):c.3621C>G (p.Ile1207Met)
|
rs529700838
|
|
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys)
|
rs794727410
|
|
NM_000257.4(MYH7):c.4126G>A (p.Glu1376Lys)
|
rs730880791
|
|
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp)
|
rs730880910
|
|
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys)
|
rs730880792
|
|
NM_000257.4(MYH7):c.415G>T (p.Val139Leu)
|
rs2138684666
|
|
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys)
|
rs397516208
|
|
NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys)
|
rs730880800
|
|
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys)
|
rs876657884
|
|
NM_000257.4(MYH7):c.4470G>C (p.Glu1490Asp)
|
rs730880911
|
|
NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln)
|
rs730880810
|
|
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys)
|
rs763538103
|
|
NM_000257.4(MYH7):c.506G>A (p.Arg169Lys)
|
rs397516237
|
|
NM_000257.4(MYH7):c.5380C>G (p.Gln1794Glu)
|
rs397516247
|
|
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys)
|
rs730880816
|
|
NM_000257.4(MYH7):c.5399C>T (p.Ala1800Val)
|
rs730880817
|
|
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp)
|
rs145734640
|
|
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln)
|
rs730880822
|
|
NM_000257.4(MYH7):c.5726G>C (p.Arg1909Pro)
|
rs397516253
|
|
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)
|
rs397516260
|
|
NM_000257.4(MYH7):c.646C>G (p.Leu216Val)
|
rs772488436
|
|
NM_000257.4(MYH7):c.676G>A (p.Ala226Thr)
|
rs1057517773
|
|
NM_000257.4(MYH7):c.686C>T (p.Ala229Val)
|
rs876657888
|
|
NM_000257.4(MYH7):c.689T>C (p.Phe230Ser)
|
rs886038844
|
|
NM_000257.4(MYH7):c.707T>C (p.Val236Ala)
|
rs397516262
|
|
NM_000257.4(MYH7):c.725C>G (p.Ser242Cys)
|
rs730880921
|
|
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys)
|
rs730880922
|
|
NM_000257.4(MYH7):c.743T>C (p.Ile248Thr)
|
rs727504280
|
|
NM_000257.4(MYH7):c.773T>C (p.Leu258Ser)
|
rs876661377
|
|
NM_000257.4(MYH7):c.848A>G (p.Tyr283Cys)
|
rs727503274
|
|
NM_000257.4(MYH7):c.968T>A (p.Ile323Asn)
|
rs397516275
|
|
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)
|
rs139794067
|
|
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)
|
rs139794067
|
|
NM_000258.3(MYL3):c.463C>G (p.His155Asp)
|
rs199474706
|
|
NM_000258.3(MYL3):c.466G>T (p.Val156Leu)
|
rs199474707
|
|
NM_000260.4(MYO7A):c.132+5G>A
|
rs397516284
|
|
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
|
rs782063761
|
|
NM_000260.4(MYO7A):c.1903T>C (p.Cys635Arg)
|
rs797044514
|
|
NM_000260.4(MYO7A):c.1979G>T (p.Gly660Val)
|
rs1555078946
|
|
NM_000260.4(MYO7A):c.2905-1G>C
|
rs1171417339
|
|
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly)
|
rs1555090196
|
|
NM_000260.4(MYO7A):c.3602G>A (p.Cys1201Tyr)
|
rs117966637
|
|
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)
|
rs751242455
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
NM_000260.4(MYO7A):c.6025G>A (p.Ala2009Thr)
|
rs397516325
|
|
NM_000260.4(MYO7A):c.6041A>G (p.His2014Arg)
|
rs2135762079
|
|
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)
|
rs876657655
|
|
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)
|
rs797044491
|
|
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)
|
rs1364203992
|
|
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)
|
rs770684838
|
|
NM_000263.4(NAGLU):c.680A>C (p.His227Pro)
|
rs747155746
|
|
NM_000264.5(PTCH1):c.114dup (p.Leu39fs)
|
rs751977093
|
|
NM_000264.5(PTCH1):c.1737AGT[1] (p.Val582del)
|
rs1588578556
|
|
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile)
|
rs1554700630
|
|
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro)
|
rs1556002568
|
|
NM_000268.4(NF2):c.641T>C (p.Leu214Pro)
|
rs1601618585
|
|
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly)
|
rs1192824648
|
|
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)
|
rs1298238512
|
|
NM_000271.5(NPC1):c.1327-2dup
|
rs1555636712
|
|
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro)
|
rs893564568
|
|
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)
|
rs1338658857
|
|
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys)
|
rs1555632003
|
|
NM_000271.5(NPC1):c.3754+3A>C
|
rs1208252513
|
|
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr)
|
rs111256741
|
|
NM_000271.5(NPC1):c.57+4A>G
|
rs1057519229
|
|
NM_000271.5(NPC1):c.574T>C (p.Tyr192His)
|
|
|
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del)
|
rs1243863645
|
|
NM_000273.3(GPR143):c.352G>A (p.Gly118Arg)
|
rs2146700794
|
|
NM_000274.4(OAT):c.1118G>A (p.Gly373Glu)
|
rs386833595
|
|
NM_000274.4(OAT):c.192_193del (p.Gly65fs)
|
rs386833600
|
|
NM_000274.4(OAT):c.461G>T (p.Arg154Leu)
|
rs121965039
|
|
NM_000274.4(OAT):c.472_486del (p.Tyr158_Gly162del)
|
rs386833611
|
|
NM_000274.4(OAT):c.583G>T (p.Asp195Tyr)
|
rs386833614
|
|
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg)
|
rs747214535
|
|
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)
|
rs779850564
|
|
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg)
|
rs886043514
|
|
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
|
rs767489236
|
|
NM_000275.3(OCA2):c.646+1G>A
|
|
|
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer)
|
rs281865431
|
|
NM_000277.3(PAH):c.1004A>C (p.Lys335Thr)
|
rs281865434
|
|
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)
|
rs62516062
|
|
NM_000277.3(PAH):c.1066-13T>G
|
rs1435691439
|
|
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)
|
rs376480977
|
|
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu)
|
rs1555203681
|
|
NM_000277.3(PAH):c.1171A>G (p.Ser391Gly)
|
rs281865453
|
|
NM_000277.3(PAH):c.1240T>C (p.Tyr414His)
|
rs281865437
|
|
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln)
|
rs1445893088
|
|
NM_000277.3(PAH):c.124_126del (p.Lys42del)
|
rs1555209578
|
|
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del)
|
rs199475628
|
|
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser)
|
rs199475696
|
|
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)
|
rs764974157
|
|
NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr)
|
rs281865432
|
|
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)
|
rs62517167
|
|
NM_000277.3(PAH):c.301G>A (p.Asp101Asn)
|
rs1555207979
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
NM_000277.3(PAH):c.441+6T>A
|
rs199475698
|
|
NM_000277.3(PAH):c.441+6T>C
|
rs199475698
|
|
NM_000277.3(PAH):c.443G>T (p.Gly148Val)
|
rs1555205655
|
|
NM_000277.3(PAH):c.493G>C (p.Ala165Pro)
|
rs199475626
|
|
NM_000277.3(PAH):c.506G>C (p.Arg169Pro)
|
rs199475679
|
|
NM_000277.3(PAH):c.510-5T>A
|
rs1875378128
|
|
NM_000277.3(PAH):c.523C>T (p.Pro175Ser)
|
rs199475604
|
|
NM_000277.3(PAH):c.561G>C (p.Trp187Cys)
|
rs62507336
|
|
NM_000277.3(PAH):c.568G>A (p.Val190Met)
|
rs281865441
|
|
NM_000277.3(PAH):c.617A>G (p.Tyr206Cys)
|
rs62508728
|
|
NM_000277.3(PAH):c.620A>G (p.Asn207Ser)
|
rs62508721
|
|
NM_000277.3(PAH):c.637C>T (p.Leu213Phe)
|
rs1131691945
|
|
NM_000277.3(PAH):c.649T>C (p.Cys217Arg)
|
rs62508718
|
|
NM_000277.3(PAH):c.668A>T (p.Asn223Ile)
|
rs201245932
|
|
NM_000277.3(PAH):c.682G>A (p.Glu228Lys)
|
rs281865444
|
|
NM_000277.3(PAH):c.740G>A (p.Gly247Asp)
|
rs199475579
|
|
NM_000277.3(PAH):c.781C>G (p.Arg261Gly)
|
rs5030850
|
|
NM_000277.3(PAH):c.800A>T (p.Gln267Leu)
|
rs778154939
|
|
NM_000277.3(PAH):c.812A>T (p.His271Leu)
|
rs199475692
|
|
NM_000277.3(PAH):c.869A>T (p.His290Leu)
|
rs62642919
|
|
NM_000277.3(PAH):c.870T>G (p.His290Gln)
|
rs751203209
|
|
NM_000277.3(PAH):c.887A>G (p.Asp296Gly)
|
rs281865446
|
|
NM_000277.3(PAH):c.895T>C (p.Phe299Leu)
|
rs796064504
|
|
NM_000277.3(PAH):c.899C>T (p.Ala300Val)
|
rs199475609
|
|
NM_000277.3(PAH):c.912+3A>C
|
rs281865450
|
|
NM_000277.3(PAH):c.912G>A (p.Gln304=)
|
rs199475583
|
|
NM_000277.3(PAH):c.913-3C>G
|
rs281865451
|
|
NM_000277.3(PAH):c.913-8A>G
|
rs281865452
|
|
NM_000282.4(PCCA):c.1353+5_1353+9del
|
rs764045674
|
|
NM_000282.4(PCCA):c.1643+1_1643+2dup
|
rs1555425626
|
|
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg)
|
rs2152811823
|
|
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)
|
rs749875940
|
|
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp)
|
rs1555396108
|
|
NM_000282.4(PCCA):c.947T>A (p.Met316Lys)
|
rs137861347
|
|
NM_000284.4(PDHA1):c.311T>C (p.Leu104Pro)
|
rs794727621
|
|
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)
|
|
|
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp)
|
rs771063294
|
|
NM_000287.4(PEX6):c.2095-21_2095-10del
|
rs772869377
|
|
NM_000287.4(PEX6):c.659G>T (p.Gly220Val)
|
rs267608203
|
|
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)
|
rs61753236
|
|
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln)
|
rs267608257
|
|
NM_000289.6(PFKM):c.238-3A>G
|
|
|
NM_000291.4(PGK1):c.639C>T (p.Gly213=)
|
rs797044505
|
|
NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln)
|
rs2048199652
|
|
NM_000292.3(PHKA2):c.3645_3646dup (p.Thr1216fs)
|
rs2147799052
|
|
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys)
|
rs2053339231
|
|
NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs)
|
rs921982028
|
|
NM_000297.4(PKD2):c.1258A>G (p.Arg420Gly)
|
rs1727651995
|
|
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp)
|
rs1578135842
|
|
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del)
|
rs778896252
|
|
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro)
|
rs1578153598
|
|
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro)
|
rs2110104859
|
|
NM_000298.6(PKLR):c.1174G>A (p.Ala392Thr)
|
rs1403323591
|
|
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp)
|
rs755522396
|
|
NM_000298.6(PKLR):c.1378G>A (p.Val460Met)
|
rs752034960
|
|
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser)
|
rs139002629
|
|
NM_000298.6(PKLR):c.1670G>C (p.Gly557Ala)
|
rs1674489086
|
|
NM_000298.6(PKLR):c.1705C>T (p.Arg569Trp)
|
|
|
NM_000298.6(PKLR):c.514G>C (p.Glu172Gln)
|
|
|
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)
|
rs769648248
|
|
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)
|
rs387906824
|
|
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr)
|
rs765433263
|
|
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys)
|
rs104894530
|
|
NM_000303.3(PMM2):c.353C>G (p.Thr118Ser)
|
|
|
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala)
|
rs958073558
|
|
NM_000303.3(PMM2):c.457A>G (p.Ile153Val)
|
rs1596489094
|
|
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg)
|
rs150577656
|
|
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr)
|
rs1555449795
|
|
NM_000303.3(PMM2):c.617del (p.Phe206fs)
|
rs1555449810
|
|
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp)
|
rs758340382
|
|
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter)
|
rs763091085
|
|
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro)
|
rs1555565276
|
|
NM_000304.4(PMP22):c.245T>C (p.Leu82Pro)
|
rs878853113
|
|
NM_000304.4(PMP22):c.248TCT[1] (p.Phe84del)
|
rs1597607920
|
|
NM_000304.4(PMP22):c.341C>T (p.Ala114Val)
|
rs1217342392
|
|
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)
|
rs1597597627
|
|
NM_000304.4(PMP22):c.418T>C (p.Trp140Arg)
|
rs1555564040
|
|
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys)
|
rs104894624
|
|
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg)
|
rs906563423
|
|
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu)
|
rs386833631
|
|
NM_000310.4(PPT1):c.362+5G>A
|
rs796052924
|
|
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser)
|
rs386833662
|
|
NM_000312.4(PROC):c.1155G>A (p.Met385Ile)
|
rs1688692415
|
|
NM_000312.4(PROC):c.355_372del (p.Ser119_Ser124del)
|
rs1436671530
|
|
NM_000312.4(PROC):c.548G>T (p.Cys183Phe)
|
rs1284942525
|
|
NM_000312.4(PROC):c.793C>T (p.Leu265Phe)
|
rs121918156
|
|
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)
|
rs121918472
|
|
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg)
|
rs1554826024
|
|
NM_000314.8(PTEN):c.105G>A (p.Met35Ile)
|
rs1554893782
|
|
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg)
|
rs786204854
|
|
NM_000314.8(PTEN):c.106G>C (p.Gly36Arg)
|
rs786204854
|
|
NM_000314.8(PTEN):c.1133_1136del (p.Arg378fs)
|
rs1064794878
|
|
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys)
|
rs1057518425
|
|
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr)
|
rs1554893824
|
|
NM_000314.8(PTEN):c.152ATG[1] (p.Asp52del)
|
rs1589617371
|
|
NM_000314.8(PTEN):c.182A>G (p.His61Arg)
|
rs398123316
|
|
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly)
|
rs869312775
|
|
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)
|
rs121909241
|
|
NM_000314.8(PTEN):c.402G>C (p.Met134Ile)
|
rs1114167676
|
|
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)
|
rs1060500126
|
|
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)
|
rs786204865
|
|
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys)
|
rs864622341
|
|
NM_000314.8(PTEN):c.592ATG[1] (p.Met199del)
|
rs1064793244
|
|
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser)
|
rs786204867
|
|
NM_000314.8(PTEN):c.635-3C>G
|
rs1085308056
|
|
NM_000314.8(PTEN):c.64G>C (p.Asp22His)
|
rs876660420
|
|
NM_000314.8(PTEN):c.67T>G (p.Leu23Val)
|
rs876661244
|
|
NM_000314.8(PTEN):c.722T>C (p.Phe241Ser)
|
rs121909240
|
|
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn)
|
rs1554825266
|
|
NM_000314.8(PTEN):c.802-2del
|
rs886047397
|
|
NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser)
|
rs886041877
|
|
NM_000314.8(PTEN):c.91A>G (p.Asn31Asp)
|
rs1859093459
|
|
NM_000317.3(PTS):c.108C>G (p.Asn36Lys)
|
rs1449216377
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
|
NM_000317.3(PTS):c.281A>G (p.Asp94Gly)
|
rs1057517811
|
|
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)
|
rs779681799
|
|
NM_000317.3(PTS):c.83+1G>A
|
rs927103678
|
|
NM_000321.3(RB1):c.1960G>A (p.Val654Met)
|
rs483352690
|
|
NM_000321.3(RB1):c.1961T>A (p.Val654Glu)
|
rs769113950
|
|
NM_000321.3(RB1):c.1964A>G (p.Tyr655Cys)
|
rs774196937
|
|
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser)
|
rs1131690891
|
|
NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs)
|
rs1799984208
|
|
NM_000322.5(PRPH2):c.457A>G (p.Lys153Glu)
|
rs2152010930
|
|
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr)
|
rs786205579
|
|
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys)
|
rs1064793237
|
|
NM_000322.5(PRPH2):c.582T>A (p.Asp194Glu)
|
rs1331346375
|
|
NM_000322.5(PRPH2):c.583C>G (p.Arg195Gly)
|
rs1322278463
|
|
NM_000322.5(PRPH2):c.595A>G (p.Asn199Asp)
|
rs757988141
|
|
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)
|
rs61755805
|
|
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu)
|
rs986748364
|
|
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)
|
rs61755809
|
|
NM_000322.5(PRPH2):c.737G>C (p.Trp246Ser)
|
rs1582764697
|
|
NM_000322.5(PRPH2):c.758C>A (p.Ala253Asp)
|
rs2152005234
|
|
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del)
|
rs1582764519
|
|
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu)
|
rs1582759492
|
|
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)
|
rs1645824187
|
|
NM_000329.3(RPE65):c.536C>T (p.Ala179Val)
|
rs1645898265
|
|
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)
|
rs192907397
|
|
NM_000330.4(RS1):c.404G>C (p.Gly135Ala)
|
|
|
NM_000330.4(RS1):c.52+3A>G
|
rs2147209764
|
|
NM_000334.4(SCN4A):c.1173del (p.Phe392fs)
|
rs1235665641
|
|
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)
|
rs121908552
|
|
NM_000334.4(SCN4A):c.1762A>G (p.Ile588Val)
|
rs2144798704
|
|
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)
|
rs1057518865
|
|
NM_000334.4(SCN4A):c.3445G>T (p.Val1149Leu)
|
rs1908692348
|
|
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu)
|
rs121908545
|
|
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His)
|
rs748517635
|
|
NM_000335.5(SCN5A):c.2701G>A (p.Glu901Lys)
|
rs199473174
|
|
NM_000335.5(SCN5A):c.2816T>C (p.Leu939Pro)
|
rs2061581608
|
|
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile)
|
rs199473054
|
|
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)
|
rs137854609
|
|
NM_000335.5(SCN5A):c.4134CAA[1] (p.Asn1379del)
|
rs794728922
|
|
NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln)
|
rs199473249
|
|
NM_000335.5(SCN5A):c.4335G>A (p.Met1445Ile)
|
rs794728936
|
|
NM_000335.5(SCN5A):c.4343A>T (p.Tyr1448Phe)
|
rs199473613
|
|
NM_000335.5(SCN5A):c.4393A>G (p.Ile1465Val)
|
rs794728881
|
|
NM_000335.5(SCN5A):c.4414T>C (p.Phe1472Leu)
|
rs1057523393
|
|
NM_000335.5(SCN5A):c.4427A>C (p.Lys1476Thr)
|
|
|
NM_000335.5(SCN5A):c.4434+5G>A
|
rs1057520531
|
|
NM_000335.5(SCN5A):c.4481A>C (p.Tyr1494Ser)
|
rs199473262
|
|
NM_000335.5(SCN5A):c.4490T>C (p.Met1497Thr)
|
rs199473263
|
|
NM_000335.5(SCN5A):c.4717G>A (p.Glu1573Lys)
|
rs199473620
|
|
NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg)
|
rs199473292
|
|
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile)
|
rs199473293
|
|
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met)
|
rs199473297
|
|
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser)
|
rs199473298
|
|
NM_000335.5(SCN5A):c.5317A>T (p.Asn1773Tyr)
|
rs199473633
|
|
NM_000335.5(SCN5A):c.5543A>G (p.His1848Arg)
|
rs794728898
|
|
NM_000335.5(SCN5A):c.5620_5622dup (p.Met1874dup)
|
rs1474459822
|
|
NM_000335.5(SCN5A):c.664C>G (p.Arg222Gly)
|
rs794728849
|
|
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys)
|
rs199473082
|
|
NM_000340.2(SLC2A2):c.469G>C (p.Gly157Arg)
|
rs750836049
|
|
NM_000340.2(SLC2A2):c.589G>C (p.Val197Leu)
|
rs121909741
|
|
NM_000342.4(SLC4A1):c.1987ATG[1] (p.Met664del)
|
|
|
NM_000342.4(SLC4A1):c.2188C>T (p.Arg730Cys)
|
rs770569237
|
|
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp)
|
rs373916826
|
|
NM_000343.4(SLC5A1):c.1006C>T (p.Arg336Cys)
|
rs768831308
|
|
NM_000344.4(SMN1):c.*3+1G>A
|
rs1290417835
|
|
NM_000344.4(SMN1):c.818A>T (p.His273Leu)
|
rs1554082114
|
|
NM_000346.4(SOX9):c.507C>G (p.His169Gln)
|
rs2229989
|
|
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His)
|
rs61748548
|
|
NM_000350.3(ABCA4):c.1570A>G (p.Lys524Glu)
|
rs1570394071
|
|
NM_000350.3(ABCA4):c.1844T>C (p.Val615Ala)
|
rs2101078285
|
|
NM_000350.3(ABCA4):c.2036A>T (p.Glu679Val)
|
rs1553192420
|
|
NM_000350.3(ABCA4):c.2353C>G (p.Arg785Gly)
|
rs781254854
|
|
NM_000350.3(ABCA4):c.2791G>T (p.Val931Leu)
|
rs58331765
|
|
NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys)
|
rs398123338
|
|
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser)
|
rs368846708
|
|
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg)
|
rs1064793011
|
|
NM_000350.3(ABCA4):c.3639CCA[1] (p.His1215del)
|
rs1570367398
|
|
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=)
|
rs1064797113
|
|
NM_000350.3(ABCA4):c.4220C>T (p.Pro1407Leu)
|
rs1064797091
|
|
NM_000350.3(ABCA4):c.4519G>T (p.Gly1507Trp)
|
rs568792949
|
|
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu)
|
rs886046564
|
|
NM_000350.3(ABCA4):c.4859A>T (p.Asn1620Ile)
|
rs1659893012
|
|
NM_000350.3(ABCA4):c.5196+1056A>G
|
rs886044749
|
|
NM_000350.3(ABCA4):c.5510C>T (p.Pro1837Leu)
|
rs1571250077
|
|
NM_000350.3(ABCA4):c.5584+6T>C
|
rs61750633
|
|
NM_000350.3(ABCA4):c.5714+5G>T
|
rs61751407
|
|
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn)
|
rs1553186514
|
|
NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser)
|
rs2297669
|
|
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro)
|
rs2100993895
|
|
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn)
|
rs1571242070
|
|
NM_000350.3(ABCA4):c.769-784C>T
|
|
|
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)
|
rs193922397
|
|
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro)
|
rs1402090677
|
|
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)
|
rs797045208
|
|
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly)
|
rs1484689392
|
|
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)
|
rs547150342
|
|
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro)
|
rs1352191146
|
|
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)
|
rs2133711315
|
|
NM_000352.6(ABCC8):c.343A>G (p.Met115Val)
|
rs146695489
|
|
NM_000352.6(ABCC8):c.3551C>T (p.Ala1184Val)
|
rs137852675
|
|
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met)
|
rs193922403
|
|
NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro)
|
rs796891223
|
|
NM_000352.6(ABCC8):c.579+2T>A
|
rs1449198328
|
|
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)
|
|
|
NM_000352.6(ABCC8):c.917G>T (p.Arg306Leu)
|
|
|
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr)
|
rs121909212
|
|
NM_000359.3(TGM1):c.635C>T (p.Ser212Phe)
|
rs1555306304
|
|
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
|
|
|
NM_000360.4(TH):c.1118C>T (p.Thr373Met)
|
rs868563700
|
|
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
|
|
|
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)
|
rs575326605
|
|
NM_000360.4(TH):c.628G>A (p.Ala210Thr)
|
rs1260455415
|
|
NM_000360.4(TH):c.90+13G>T
|
rs77140743
|
|
NM_000360.4(TH):c.90+7dup
|
rs780485650
|
|
NM_000360.4(TH):c.917G>A (p.Arg306His)
|
rs28934580
|
|
NM_000363.5(TNNI3):c.114A>T (p.Lys38Asn)
|
rs730881066
|
|
NM_000363.5(TNNI3):c.131C>G (p.Ser44Trp)
|
rs730881085
|
|
NM_000363.5(TNNI3):c.204del (p.Arg69fs)
|
rs727504872
|
|
NM_000363.5(TNNI3):c.302A>G (p.His101Arg)
|
rs730881087
|
|
NM_000363.5(TNNI3):c.488C>T (p.Ala163Val)
|
rs727504367
|
|
NM_000363.5(TNNI3):c.502G>A (p.Asp168Asn)
|
rs1085308019
|
|
NM_000363.5(TNNI3):c.562G>A (p.Val188Met)
|
rs193922409
|
|
NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu)
|
rs730881080
|
|
NM_000363.5(TNNI3):c.602T>C (p.Met201Thr)
|
rs727504365
|
|
NM_000368.5(TSC1):c.1029+3A>G
|
rs1554817334
|
|
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser)
|
rs1554820662
|
|
NM_000368.5(TSC1):c.2042-5A>G
|
rs118203627
|
|
NM_000368.5(TSC1):c.737+3A>G
|
rs118203439
|
|
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys)
|
rs118203436
|
|
NM_000369.5(TSHR):c.1462T>C (p.Trp488Arg)
|
rs2140111252
|
|
NM_000371.4(TTR):c.194C>T (p.Ala65Val)
|
rs730881169
|
|
NM_000371.4(TTR):c.220G>C (p.Glu74Gln)
|
rs1555631393
|
|
NM_000371.4(TTR):c.259G>C (p.Gly87Arg)
|
rs11541799
|
|
NM_000371.4(TTR):c.302C>T (p.Ala101Val)
|
rs1555631417
|
|
NM_000371.4(TTR):c.310A>C (p.Ile104Leu)
|
rs781345808
|
|
NM_000371.4(TTR):c.326A>T (p.Glu109Val)
|
rs2073511444
|
|
NM_000371.4(TTR):c.418G>T (p.Ala140Ser)
|
rs876658108
|
|
NM_000372.5(TYR):c.1037-3C>G
|
|
|
NM_000372.5(TYR):c.1130T>C (p.Val377Ala)
|
|
|
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala)
|
rs797046081
|
|
NM_000372.5(TYR):c.1259A>G (p.His420Arg)
|
rs2135324283
|
|
NM_000372.5(TYR):c.1588T>A (p.Ter530Lys)
|
rs2135332829
|
|
NM_000372.5(TYR):c.524T>C (p.Leu175Pro)
|
rs1064795343
|
|
NM_000372.5(TYR):c.803TCT[1] (p.Phe269del)
|
rs1064796028
|
|
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn)
|
rs200305064
|
|
NM_000377.3(WAS):c.397G>A (p.Glu133Lys)
|
rs2062417344
|
|
NM_000380.4(XPA):c.323G>T (p.Cys108Phe)
|
rs104894131
|
|
NM_000382.3(ALDH3A2):c.1339A>G (p.Lys447Glu)
|
|
|
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)
|
rs72547554
|
|
NM_000382.3(ALDH3A2):c.681-14T>G
|
rs1400349287
|
|
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys)
|
rs179363875
|
|
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg)
|
rs754932526
|
|
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
|
|
|
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
|
|
|
NM_000384.3(APOB):c.12529C>T (p.Arg4177Ter)
|
|
|
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)
|
rs760832994
|
|
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del)
|
rs562574661
|
|
NM_000384.3(APOB):c.149G>A (p.Arg50Gln)
|
rs1465696669
|
|
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)
|
|
|
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
|
|
|
NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys)
|
rs747335514
|
|
NM_000388.4(CASR):c.101T>C (p.Leu34Pro)
|
rs1559955362
|
|
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys)
|
rs1576859379
|
|
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser)
|
rs2107649591
|
|
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp)
|
rs193922436
|
|
NM_000388.4(CASR):c.372C>A (p.Asn124Lys)
|
rs757571398
|
|
NM_000388.4(CASR):c.61G>A (p.Gly21Arg)
|
rs1064794290
|
|
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro)
|
rs1060502179
|
|
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val)
|
rs786205465
|
|
NM_000392.5(ABCC2):c.4175_4180del (p.Arg1392_Met1393del)
|
rs749662916
|
|
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=)
|
rs1553515794
|
|
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=)
|
rs878853978
|
|
NM_000394.4(CRYAA):c.440del (p.Gln147fs)
|
rs1114167311
|
|
NM_000396.4(CTSK):c.541T>C (p.Tyr181His)
|
rs868112062
|
|
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)
|
|
|
NM_000398.7(CYB5R3):c.434C>T (p.Pro145Leu)
|
|
|
NM_000399.5(EGR2):c.1066G>C (p.Glu356Gln)
|
rs751448371
|
|
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)
|
rs376556895
|
|
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)
|
rs137852320
|
|
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)
|
rs137852337
|
|
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)
|
rs968221254
|
|
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser)
|
rs794727165
|
|
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)
|
rs977975596
|
|
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu)
|
rs730882196
|
|
NM_000407.5(GP1BB):c.400G>A (p.Glu134Lys)
|
rs2145796377
|
|
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)
|
rs1554068136
|
|
NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg)
|
rs1554068272
|
|
NM_000419.5(ITGA2B):c.1021G>A (p.Ala341Thr)
|
rs2048616842
|
|
NM_000419.5(ITGA2B):c.1139G>A (p.Gly380Asp)
|
|
|
NM_000419.5(ITGA2B):c.2150T>C (p.Leu717Pro)
|
rs2143447451
|
|
NM_000419.5(ITGA2B):c.476G>T (p.Gly159Val)
|
rs2048641442
|
|
NM_000419.5(ITGA2B):c.59T>G (p.Leu20Arg)
|
|
|
NM_000419.5(ITGA2B):c.800G>A (p.Gly267Glu)
|
rs2048627164
|
|
NM_000419.5(ITGA2B):c.886G>A (p.Gly296Arg)
|
rs753264426
|
|
NM_000419.5(ITGA2B):c.889G>C (p.Ala297Pro)
|
rs531610168
|
|
NM_000423.3(KRT2):c.566T>C (p.Phe189Ser)
|
rs1064795317
|
|
NM_000426.4(LAMA2):c.1467+1G>A
|
rs1554234161
|
|
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)
|
rs143680577
|
|
NM_000426.4(LAMA2):c.6992+5G>A
|
rs1221715098
|
|
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln)
|
rs202247792
|
|
NM_000426.4(LAMA2):c.8244+3_8244+6del
|
rs746678525
|
|
NM_000428.3(LTBP2):c.3652+1G>C
|
rs773910322
|
|
NM_000431.4(MVK):c.904C>T (p.Gln302Ter)
|
rs886048933
|
|
NM_000431.4(MVK):c.943C>G (p.Leu315Val)
|
|
|
NM_000432.4(MYL2):c.188del (p.Asn63fs)
|
rs1177936172
|
|
NM_000432.4(MYL2):c.3+1G>T
|
rs730880948
|
|
NM_000432.4(MYL2):c.431_432del (p.Pro144fs)
|
rs1566147422
|
|
NM_000432.4(MYL2):c.488A>G (p.Glu163Gly)
|
rs397516407
|
|
NM_000432.4(MYL2):c.92_93+1del
|
rs751392310
|
|
NM_000435.3(NOTCH3):c.1305T>G (p.Cys435Trp)
|
rs2046907170
|
|
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr)
|
rs886041513
|
|
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys)
|
rs754554486
|
|
NM_000435.3(NOTCH3):c.1903C>T (p.Arg635Cys)
|
rs753801611
|
|
NM_000435.3(NOTCH3):c.208G>T (p.Gly70Cys)
|
|
|
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly)
|
rs1599395616
|
|
NM_000435.3(NOTCH3):c.3084G>C (p.Trp1028Cys)
|
rs2046832726
|
|
NM_000435.3(NOTCH3):c.3782G>A (p.Cys1261Tyr)
|
|
|
NM_000435.3(NOTCH3):c.3893G>T (p.Cys1298Phe)
|
rs2046807248
|
|
NM_000435.3(NOTCH3):c.3944G>A (p.Cys1315Tyr)
|
rs1432396805
|
|
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr)
|
rs1599394351
|
|
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del)
|
rs767540194
|
|
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)
|
rs141252097
|
|
NM_000441.2(SLC26A4):c.1001+4A>G
|
rs1262298247
|
|
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)
|
rs397516414
|
|
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)
|
rs201660407
|
|
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala)
|
rs1057520369
|
|
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del)
|
rs111033207
|
|
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp)
|
rs1314376649
|
|
NM_000441.2(SLC26A4):c.1670G>A (p.Gly557Asp)
|
rs939755872
|
|
NM_000441.2(SLC26A4):c.1707+6T>C
|
rs727505230
|
|
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)
|
|
|
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)
|
rs397516427
|
|
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)
|
rs111033310
|
|
NM_000441.2(SLC26A4):c.260A>G (p.Asp87Gly)
|
rs111033344
|
|
NM_000441.2(SLC26A4):c.347G>A (p.Gly116Asp)
|
rs2129311246
|
|
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
|
|
|
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)
|
rs752916287
|
|
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg)
|
rs1085308012
|
|
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys)
|
rs886043680
|
|
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys)
|
rs374873766
|
|
NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp)
|
|
|
NM_000444.6(PHEX):c.1960T>A (p.Phe654Ile)
|
rs1935508894
|
|
NM_000444.6(PHEX):c.2018T>C (p.Leu673Pro)
|
|
|
NM_000444.6(PHEX):c.2070+5G>C
|
rs1057517797
|
|
NM_000444.6(PHEX):c.332_334del (p.Val111del)
|
rs1064795949
|
|
NM_000444.6(PHEX):c.499T>C (p.Trp167Arg)
|
rs1064796435
|
|
NM_000444.6(PHEX):c.914T>G (p.Leu305Arg)
|
rs1064796929
|
|
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
|
|
|
NM_000448.3(RAG1):c.2564A>G (p.Asn855Ser)
|
rs199474690
|
|
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln)
|
rs1064793249
|
|
NM_000454.5(SOD1):c.122A>G (p.Glu41Gly)
|
rs1568809149
|
|
NM_000455.5(STK11):c.323A>G (p.Lys108Arg)
|
rs1057520040
|
|
NM_000455.5(STK11):c.329T>A (p.Val110Asp)
|
rs2145420687
|
|
NM_000455.5(STK11):c.374+2T>C
|
rs1555737480
|
|
NM_000455.5(STK11):c.407T>C (p.Met136Thr)
|
rs1060499958
|
|
NM_000455.5(STK11):c.737ACA[1] (p.Asn247del)
|
|
|
NM_000455.5(STK11):c.854T>C (p.Leu285Pro)
|
rs1555738724
|
|
NM_000455.5(STK11):c.869T>C (p.Leu290Pro)
|
rs1057524439
|
|
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
|
|
|
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
|
|
|
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
|
|
|
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
|
|
|
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln)
|
|
|
NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro)
|
rs2147545592
|
|
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
|
|
|
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
|
|
|
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
|
|
|
NM_000459.5(TEK):c.2753G>A (p.Arg918His)
|
rs1554701458
|
|
NM_000459.5(TEK):c.857G>T (p.Gly286Val)
|
rs2131150099
|
|
NM_000463.3(UGT1A1):c.1463C>T (p.Ser488Phe)
|
rs72551360
|
|
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu)
|
rs35350960
|
|
NM_000465.4(BARD1):c.1568+5G>A
|
|
|
NM_000465.4(BARD1):c.1569-7T>G
|
rs1559395026
|
|
NM_000465.4(BARD1):c.1677+5G>A
|
rs587780019
|
|
NM_000465.4(BARD1):c.2001+3A>G
|
rs1553612461
|
|
NM_000465.4(BARD1):c.2002-1G>A
|
rs762601855
|
|
NM_000465.4(BARD1):c.2002-2A>C
|
rs876658260
|
|
NM_000465.4(BARD1):c.2002-2A>G
|
rs876658260
|
|
NM_000465.4(BARD1):c.2002-2A>T
|
rs876658260
|
|
NM_000465.4(BARD1):c.211T>A (p.Cys71Ser)
|
rs1060501308
|
|
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs)
|
rs786203811
|
|
NM_000465.4(BARD1):c.215+5_215+8del
|
rs876658777
|
|
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg)
|
rs1559437198
|
|
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)
|
rs752514155
|
|
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del)
|
rs886043984
|
|
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)
|
rs1484321655
|
|
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)
|
rs954814470
|
|
NM_000466.3(PEX1):c.3115del (p.Thr1039fs)
|
rs1562846257
|
|
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr)
|
rs1057524727
|
|
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly)
|
rs1219494274
|
|
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val)
|
rs1644719715
|
|
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr)
|
rs1553414563
|
|
NM_000478.6(ALPL):c.106A>C (p.Thr36Pro)
|
rs747167000
|
|
NM_000478.6(ALPL):c.1143C>G (p.His381Gln)
|
rs749419329
|
|
NM_000478.6(ALPL):c.1331A>G (p.Gln444Arg)
|
rs1644752699
|
|
NM_000478.6(ALPL):c.1343C>T (p.Pro448Leu)
|
rs1131691372
|
|
NM_000478.6(ALPL):c.188G>T (p.Gly63Val)
|
rs1490668038
|
|
NM_000478.6(ALPL):c.318G>C (p.Gln106His)
|
rs1553412268
|
|
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser)
|
rs1384701659
|
|
NM_000478.6(ALPL):c.337ACCGCC[3] (p.113TA[3])
|
rs2148158314
|
|
NM_000478.6(ALPL):c.368C>A (p.Ala123Asp)
|
rs1188506084
|
|
NM_000478.6(ALPL):c.416G>A (p.Cys139Tyr)
|
|
|
NM_000478.6(ALPL):c.422C>A (p.Thr141Asn)
|
rs916300043
|
|
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg)
|
rs1644512630
|
|
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro)
|
rs121918004
|
|
NM_000478.6(ALPL):c.643A>G (p.Ile215Val)
|
|
|
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys)
|
rs1553413155
|
|
NM_000478.6(ALPL):c.658G>A (p.Gly220Arg)
|
rs747488546
|
|
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala)
|
rs121918018
|
|
NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del)
|
rs1553414078
|
|
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del)
|
rs768940499
|
|
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)
|
rs1167886830
|
|
NM_000481.4(AMT):c.311G>A (p.Gly104Glu)
|
rs753221440
|
|
NM_000481.4(AMT):c.797T>C (p.Leu266Pro)
|
rs2049051428
|
|
NM_000481.4(AMT):c.970_972del (p.Met324del)
|
rs386833691
|
|
NM_000484.4(APP):c.2030A>G (p.His677Arg)
|
rs63749953
|
|
NM_000487.6(ARSA):c.1108-3C>G
|
rs1001100248
|
|
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly)
|
rs2146717703
|
|
NM_000487.6(ARSA):c.1200C>T (p.Phe400=)
|
rs1175674325
|
|
NM_000487.6(ARSA):c.418C>G (p.His140Asp)
|
rs199476358
|
|
NM_000487.6(ARSA):c.421C>T (p.Gln141Ter)
|
rs1057516730
|
|
NM_000487.6(ARSA):c.937C>G (p.Arg313Gly)
|
rs551472773
|
|
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp)
|
rs199476390
|
|
NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe)
|
rs1057521987
|
|
NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr)
|
rs122445110
|
|
NM_000490.5(AVP):c.229GAG[1] (p.Glu78del)
|
rs2066119604
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro)
|
rs1562892293
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)
|
rs397508170
|
|
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)
|
rs397508191
|
|
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)
|
rs1554382664
|
|
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)
|
rs121908805
|
|
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)
|
rs79282516
|
|
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)
|
|
|
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu)
|
rs1800091
|
|
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met)
|
rs1800092
|
|
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)
|
rs397508225
|
|
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)
|
rs1554384440
|
|
NM_000492.4(CFTR):c.164+2dup
|
rs1554375870
|
|
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
|
|
|
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)
|
rs397508280
|
|
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)
|
rs397508297
|
|
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile)
|
rs397508308
|
|
NM_000492.4(CFTR):c.1826A>T (p.His609Leu)
|
rs397508310
|
|
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)
|
rs397508315
|
|
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala)
|
rs1554389290
|
|
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu)
|
rs397508357
|
|
NM_000492.4(CFTR):c.253G>C (p.Gly85Arg)
|
|
|
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp)
|
rs397508432
|
|
NM_000492.4(CFTR):c.2907A>C (p.Ala969=)
|
rs377502207
|
|
NM_000492.4(CFTR):c.2909-15T>G
|
rs397508455
|
|
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro)
|
rs137975784
|
|
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)
|
rs397508462
|
|
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)
|
rs193922516
|
|
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)
|
rs397508490
|
|
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser)
|
rs397508491
|
|
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)
|
rs397508498
|
|
NM_000492.4(CFTR):c.3119T>C (p.Leu1040Pro)
|
|
|
NM_000492.4(CFTR):c.3140-11A>G
|
|
|
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr)
|
rs121909020
|
|
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)
|
rs397508520
|
|
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn)
|
rs397508522
|
|
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp)
|
rs397508523
|
|
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
|
rs113993958
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala)
|
rs397508541
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3717+5G>A
|
rs193922520
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)
|
rs77010898
|
|
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)
|
rs397508634
|
|
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg)
|
rs753173837
|
|
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)
|
rs397508731
|
|
NM_000492.4(CFTR):c.488A>T (p.Lys163Met)
|
rs1562889435
|
|
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)
|
rs397508744
|
|
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu)
|
rs397508748
|
|
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)
|
rs397508753
|
|
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys)
|
rs397508755
|
|
NM_000492.4(CFTR):c.614C>G (p.Pro205Arg)
|
rs397508769
|
|
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)
|
rs1554380515
|
|
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr)
|
rs397508792
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_000504.4(F10):c.160G>A (p.Glu54Lys)
|
rs121964939
|
|
NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg)
|
rs2142993896
|
|
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del)
|
rs1567519221
|
|
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn)
|
rs1967935603
|
|
NM_000512.5(GALNS):c.121-7C>G
|
rs1004936255
|
|
NM_000512.5(GALNS):c.122T>A (p.Met41Lys)
|
rs1555523411
|
|
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)
|
rs752937387
|
|
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser)
|
rs1204485789
|
|
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)
|
rs760300454
|
|
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)
|
rs1597515555
|
|
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser)
|
rs948490589
|
|
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu)
|
rs2143005523
|
|
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys)
|
rs2143005086
|
|
NM_000512.5(GALNS):c.289T>G (p.Phe97Val)
|
rs2143005083
|
|
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly)
|
rs2143005072
|
|
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln)
|
rs746949976
|
|
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg)
|
rs794727625
|
|
NM_000512.5(GALNS):c.425A>G (p.His142Arg)
|
rs1288895691
|
|
NM_000512.5(GALNS):c.426T>A (p.His142Gln)
|
rs754616917
|
|
NM_000512.5(GALNS):c.448C>T (p.His150Tyr)
|
rs1168278189
|
|
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu)
|
rs2143002437
|
|
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys)
|
rs1301146300
|
|
NM_000512.5(GALNS):c.47T>A (p.Val16Glu)
|
rs794729202
|
|
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)
|
rs761725425
|
|
NM_000512.5(GALNS):c.499T>G (p.Phe167Val)
|
rs148565559
|
|
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys)
|
rs786205899
|
|
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr)
|
rs2143002331
|
|
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser)
|
rs2143002317
|
|
NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp)
|
rs2143001744
|
|
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)
|
rs368603508
|
|
NM_000512.5(GALNS):c.707A>G (p.His236Arg)
|
rs398123441
|
|
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del)
|
rs1389218771
|
|
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)
|
rs118204448
|
|
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)
|
rs2142999202
|
|
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr)
|
rs137854537
|
|
NM_000516.7(GNAS):c.304G>A (p.Ala102Thr)
|
rs2146178601
|
|
NM_000516.7(GNAS):c.305C>T (p.Ala102Val)
|
rs1131691999
|
|
NM_000516.7(GNAS):c.499_501del (p.Asn167del)
|
rs2090976492
|
|
NM_000516.7(GNAS):c.502G>A (p.Glu168Lys)
|
|
|
NM_000516.7(GNAS):c.569A>G (p.Tyr190Cys)
|
|
|
NM_000516.7(GNAS):c.575C>T (p.Pro192Leu)
|
rs2091273769
|
|
NM_000516.7(GNAS):c.883G>T (p.Asp295Tyr)
|
rs2146291027
|
|
NM_000517.6(HBA2):c.326C>A (p.Thr109Asn)
|
rs63750010
|
|
NM_000518.4(HBB):c.137T>C (p.Phe46Ser)
|
rs33978338
|
|
NM_000518.4(HBB):c.191A>G (p.His64Arg)
|
rs33985544
|
|
NM_000518.5(HBB):c.*132C>T
|
rs1420779550
|
|
NM_000518.5(HBB):c.-138C>A
|
rs33944208
|
|
NM_000518.5(HBB):c.90C>T (p.Gly30=)
|
rs35578002
|
|
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
|
rs1554918013
|
|
NM_000520.6(HEXA):c.1074-7_1074-3del
|
rs759219683
|
|
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)
|
rs121907973
|
|
NM_000520.6(HEXA):c.611A>G (p.His204Arg)
|
rs121907976
|
|
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)
|
rs758166013
|
|
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)
|
rs1057521137
|
|
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile)
|
rs1057519462
|
|
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)
|
rs121907977
|
|
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)
|
rs794727091
|
|
NM_000521.4(HEXB):c.1586T>G (p.Leu529Arg)
|
rs745454291
|
|
NM_000521.4(HEXB):c.1613+15_1613+18dup
|
rs779273534
|
|
NM_000523.4(HOXD13):c.894_896del (p.Asn298del)
|
rs749985629
|
|
NM_000525.4(KCNJ11):c.536A>C (p.Glu179Ala)
|
rs587783671
|
|
NM_000527.4(LDLR):c.-101T>C
|
rs747068848
|
|
NM_000527.4(LDLR):c.-136C>G
|
rs879254374
|
|
NM_000527.4(LDLR):c.-138T>C
|
rs879254372
|
|
NM_000527.4(LDLR):c.-138del
|
rs387906307
|
|
NM_000527.4(LDLR):c.-139_-130del
|
rs2077055015
|
|
NM_000527.4(LDLR):c.-140C>A
|
|
|
NM_000527.4(LDLR):c.-140C>G
|
rs875989887
|
|
NM_000527.4(LDLR):c.-140C>T
|
rs875989887
|
|
NM_000527.4(LDLR):c.-149C>A
|
rs879254368
|
|
NM_000527.4(LDLR):c.-152C>T
|
|
|
NM_000527.4(LDLR):c.-156C>T
|
rs879254364
|
|
NM_000527.4(LDLR):c.-97G>A
|
rs944580031
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg)
|
rs544453230
|
|
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val)
|
rs869320650
|
|
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys)
|
rs879254750
|
|
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr)
|
rs755757866
|
|
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr)
|
rs139361635
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000527.5(LDLR):c.1060+10G>A
|
|
|
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)
|
rs755449669
|
|
NM_000527.5(LDLR):c.1066G>C (p.Asp356His)
|
rs767767730
|
|
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr)
|
rs767767730
|
|
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)
|
rs879254781
|
|
NM_000527.5(LDLR):c.1070A>G (p.Glu357Gly)
|
rs753248521
|
|
NM_000527.5(LDLR):c.1088C>A (p.Thr363Asn)
|
rs200533979
|
|
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu)
|
rs373144619
|
|
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
|
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
|
|
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val)
|
rs752951310
|
|
NM_000527.5(LDLR):c.1154T>G (p.Leu385Arg)
|
rs879254809
|
|
NM_000527.5(LDLR):c.1186+5G>A
|
rs879254821
|
|
NM_000527.5(LDLR):c.1186G>A (p.Gly396Ser)
|
rs879254820
|
|
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp)
|
rs875989918
|
|
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del)
|
rs879254826
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
|
|
NM_000527.5(LDLR):c.1202T>A (p.Leu401His)
|
rs121908038
|
|
NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del)
|
rs879254830
|
|
NM_000527.5(LDLR):c.1210A>C (p.Thr404Pro)
|
rs879254834
|
|
NM_000527.5(LDLR):c.1210A>T (p.Thr404Ser)
|
|
|
NM_000527.5(LDLR):c.1222G>C (p.Glu408Gln)
|
rs137943601
|
|
NM_000527.5(LDLR):c.1223A>C (p.Glu408Ala)
|
rs879254838
|
|
NM_000527.5(LDLR):c.1230G>C (p.Arg410Ser)
|
rs879254839
|
|
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
|
|
|
NM_000527.5(LDLR):c.1255T>C (p.Tyr419His)
|
rs879254847
|
|
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg)
|
rs879254851
|
|
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys)
|
rs368708058
|
|
NM_000527.5(LDLR):c.1285G>C (p.Val429Leu)
|
rs28942078
|
|
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro)
|
rs28942079
|
|
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val)
|
rs730882100
|
|
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro)
|
rs1555805237
|
|
NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg)
|
rs745343524
|
|
NM_000527.5(LDLR):c.1318A>G (p.Arg440Gly)
|
rs879254861
|
|
NM_000527.5(LDLR):c.1322T>A (p.Ile441Asn)
|
rs879254862
|
|
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met)
|
rs5933
|
|
NM_000527.5(LDLR):c.1324T>C (p.Tyr442His)
|
rs879254863
|
|
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser)
|
rs879254866
|
|
NM_000527.5(LDLR):c.1340C>G (p.Ser447Cys)
|
rs879254870
|
|
NM_000527.5(LDLR):c.1366C>T (p.Leu456Phe)
|
rs761004553
|
|
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys)
|
rs879254889
|
|
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
|
|
|
NM_000527.5(LDLR):c.1403T>A (p.Val468Asp)
|
rs879254890
|
|
NM_000527.5(LDLR):c.1408A>G (p.Ser470Gly)
|
rs1057516128
|
|
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn)
|
rs730882102
|
|
NM_000527.5(LDLR):c.1418T>A (p.Ile473Asn)
|
rs879254895
|
|
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val)
|
rs879254897
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
|
|
NM_000527.5(LDLR):c.1441G>A (p.Val481Met)
|
rs879254903
|
|
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg)
|
rs879254905
|
|
NM_000527.5(LDLR):c.1455C>G (p.His485Gln)
|
rs879254908
|
|
NM_000527.5(LDLR):c.1460A>G (p.Asn487Ser)
|
rs879254912
|
|
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
|
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro)
|
rs879254936
|
|
NM_000527.5(LDLR):c.1552A>G (p.Lys518Glu)
|
rs879254937
|
|
NM_000527.5(LDLR):c.1567G>T (p.Val523Leu)
|
|
|
NM_000527.5(LDLR):c.1570G>A (p.Val524Met)
|
|
|
NM_000527.5(LDLR):c.1576C>A (p.Pro526Thr)
|
rs730882106
|
|
NM_000527.5(LDLR):c.1577C>A (p.Pro526His)
|
rs879254944
|
|
NM_000527.5(LDLR):c.1577C>G (p.Pro526Arg)
|
rs879254944
|
|
NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu)
|
|
|
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
|
|
|
NM_000527.5(LDLR):c.1586+5G>A
|
rs781362878
|
|
NM_000527.5(LDLR):c.1586+5G>C
|
rs781362878
|
|
NM_000527.5(LDLR):c.1592T>G (p.Met531Arg)
|
rs779913921
|
|
NM_000527.5(LDLR):c.1600_1608del (p.Thr534_Trp536del)
|
rs879254953
|
|
NM_000527.5(LDLR):c.1618G>T (p.Ala540Ser)
|
rs769370816
|
|
NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro)
|
rs879254968
|
|
NM_000527.5(LDLR):c.1646G>C (p.Gly549Ala)
|
rs28941776
|
|
NM_000527.5(LDLR):c.1684_1686dup (p.Trp562dup)
|
rs879254983
|
|
NM_000527.5(LDLR):c.1686G>T (p.Trp562Cys)
|
rs879254985
|
|
NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del)
|
rs879254421
|
|
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)
|
rs397509365
|
|
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp)
|
rs28942082
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
|
|
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu)
|
rs777188764
|
|
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe)
|
rs1205480064
|
|
NM_000527.5(LDLR):c.1731G>C (p.Trp577Cys)
|
rs875989928
|
|
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys)
|
rs875989928
|
|
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)
|
rs875989930
|
|
NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro)
|
rs879255010
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser)
|
rs879255025
|
|
NM_000527.5(LDLR):c.1796T>G (p.Leu599Trp)
|
rs879255025
|
|
NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp)
|
|
|
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr)
|
rs72658865
|
|
NM_000527.5(LDLR):c.1828T>C (p.Ser610Pro)
|
rs2077475503
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.1840T>A (p.Phe614Ile)
|
rs879255043
|
|
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys)
|
rs879255045
|
|
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly)
|
rs1057519677
|
|
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu)
|
rs747134711
|
|
NM_000527.5(LDLR):c.185C>G (p.Thr62Arg)
|
rs376207800
|
|
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys)
|
rs875989933
|
|
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly)
|
rs879255060
|
|
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr)
|
rs879255066
|
|
NM_000527.5(LDLR):c.1883T>C (p.Ile628Thr)
|
rs879255067
|
|
NM_000527.5(LDLR):c.1885T>G (p.Phe629Val)
|
rs765736500
|
|
NM_000527.5(LDLR):c.188G>A (p.Cys63Tyr)
|
rs879254427
|
|
NM_000527.5(LDLR):c.1907G>A (p.Gly636Asp)
|
rs879255072
|
|
NM_000527.5(LDLR):c.1907G>T (p.Gly636Val)
|
rs879255072
|
|
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)
|
rs794728584
|
|
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val)
|
rs879255075
|
|
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
|
|
|
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu)
|
rs879255081
|
|
NM_000527.5(LDLR):c.1952A>T (p.Asp651Val)
|
rs563382937
|
|
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)
|
rs875989936
|
|
NM_000527.5(LDLR):c.1957G>T (p.Val653Phe)
|
rs879255085
|
|
NM_000527.5(LDLR):c.1958T>G (p.Val653Gly)
|
rs879255086
|
|
NM_000527.5(LDLR):c.1960C>T (p.Leu654Phe)
|
rs879255087
|
|
NM_000527.5(LDLR):c.1968C>G (p.His656Gln)
|
rs879255091
|
|
NM_000527.5(LDLR):c.1981C>G (p.Pro661Ala)
|
rs1182317785
|
|
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
|
|
|
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser)
|
rs770744861
|
|
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser)
|
rs745753810
|
|
NM_000527.5(LDLR):c.2041T>A (p.Cys681Ser)
|
|
|
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp)
|
rs879255137
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly)
|
rs879255139
|
|
NM_000527.5(LDLR):c.2100C>G (p.Asp700Glu)
|
rs759858813
|
|
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser)
|
rs193922570
|
|
NM_000527.5(LDLR):c.2119G>T (p.Asp707Tyr)
|
rs879255142
|
|
NM_000527.5(LDLR):c.2125A>G (p.Arg709Gly)
|
rs1057519684
|
|
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
|
rs370018159
|
|
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
|
|
|
NM_000527.5(LDLR):c.2260G>T (p.Gly754Trp)
|
rs559239150
|
|
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp)
|
rs574337291
|
|
NM_000527.5(LDLR):c.2312-3C>A
|
|
|
NM_000527.5(LDLR):c.2389+4A>G
|
rs758493597
|
|
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
|
|
|
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu)
|
rs750518671
|
|
NM_000527.5(LDLR):c.2392CTC[1] (p.Leu799del)
|
rs879255195
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
NM_000527.5(LDLR):c.2397_2412del (p.Val800fs)
|
rs879255197
|
|
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del)
|
rs879255201
|
|
NM_000527.5(LDLR):c.240C>A (p.Asn80Lys)
|
rs879254444
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
NM_000527.5(LDLR):c.241C>A (p.Arg81Ser)
|
rs730882078
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.2479G>T (p.Val827Phe)
|
rs137853964
|
|
NM_000527.5(LDLR):c.251C>G (p.Pro84Arg)
|
rs875989892
|
|
NM_000527.5(LDLR):c.251C>T (p.Pro84Leu)
|
rs875989892
|
|
NM_000527.5(LDLR):c.2547+5G>A
|
rs879255226
|
|
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del)
|
rs879254451
|
|
NM_000527.5(LDLR):c.283T>G (p.Cys95Gly)
|
rs879254456
|
|
NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr)
|
rs879254457
|
|
NM_000527.5(LDLR):c.292G>C (p.Gly98Arg)
|
rs750474121
|
|
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn)
|
rs879254459
|
|
NM_000527.5(LDLR):c.2T>C (p.Met1Thr)
|
rs1555800701
|
|
NM_000527.5(LDLR):c.311G>T (p.Cys104Phe)
|
rs875989895
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
NM_000527.5(LDLR):c.313+5G>A
|
|
|
NM_000527.5(LDLR):c.313+6T>C
|
rs879254468
|
|
NM_000527.5(LDLR):c.355G>A (p.Gly119Arg)
|
rs869320648
|
|
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro)
|
rs879254495
|
|
NM_000527.5(LDLR):c.370C>T (p.Arg124Trp)
|
rs879254498
|
|
NM_000527.5(LDLR):c.397G>A (p.Asp133Asn)
|
rs879254513
|
|
NM_000527.5(LDLR):c.44T>A (p.Leu15His)
|
rs879254390
|
|
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro)
|
rs879254390
|
|
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
|
|
|
NM_000527.5(LDLR):c.47T>C (p.Leu16Pro)
|
rs879254391
|
|
NM_000527.5(LDLR):c.482T>A (p.Ile161Asn)
|
rs754933794
|
|
NM_000527.5(LDLR):c.491T>C (p.Leu164Pro)
|
rs879254544
|
|
NM_000527.5(LDLR):c.510C>A (p.Asp170Glu)
|
rs1060499931
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe)
|
rs376459828
|
|
NM_000527.5(LDLR):c.613C>G (p.Leu205Val)
|
rs1131692196
|
|
NM_000527.5(LDLR):c.629T>A (p.Ile210Asn)
|
rs879254601
|
|
NM_000527.5(LDLR):c.656_661del (p.Gly219_Pro220del)
|
rs879254617
|
|
NM_000527.5(LDLR):c.672C>A (p.Asp224Glu)
|
rs1057519658
|
|
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg)
|
rs879254659
|
|
NM_000527.5(LDLR):c.737G>A (p.Gly246Glu)
|
rs879254661
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000527.5(LDLR):c.758G>C (p.Arg253Pro)
|
rs139507589
|
|
NM_000527.5(LDLR):c.768C>A (p.Asp256Glu)
|
rs879254671
|
|
NM_000527.5(LDLR):c.799G>A (p.Glu267Lys)
|
rs879254679
|
|
NM_000527.5(LDLR):c.800A>C (p.Glu267Ala)
|
rs879254680
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg)
|
rs879254692
|
|
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383
|
|
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg)
|
rs879254697
|
|
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr)
|
rs879254707
|
|
NM_000527.5(LDLR):c.887G>C (p.Cys296Ser)
|
rs879254707
|
|
NM_000527.5(LDLR):c.895G>A (p.Ala299Thr)
|
rs879254711
|
|
NM_000527.5(LDLR):c.895G>T (p.Ala299Ser)
|
rs879254711
|
|
NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr)
|
rs879254715
|
|
NM_000527.5(LDLR):c.910G>C (p.Asp304His)
|
rs121908030
|
|
NM_000527.5(LDLR):c.914G>C (p.Trp305Ser)
|
rs879254717
|
|
NM_000527.5(LDLR):c.915G>C (p.Trp305Cys)
|
rs757252110
|
|
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn)
|
rs879254719
|
|
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg)
|
rs761765254
|
|
NM_000527.5(LDLR):c.937T>C (p.Cys313Arg)
|
rs879254728
|
|
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp)
|
rs13306512
|
|
NM_000527.5(LDLR):c.941-12G>A
|
rs879254734
|
|
NM_000527.5(LDLR):c.941-4G>A
|
|
|
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile)
|
rs879254742
|
|
NM_000527.5(LDLR):c.980A>C (p.His327Pro)
|
rs2077361686
|
|
NM_000527.5(LDLR):c.981C>A (p.His327Gln)
|
rs1060499933
|
|
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro)
|
rs864621980
|
|
NM_000528.4(MAN2B1):c.1336C>T (p.His446Tyr)
|
|
|
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe)
|
rs864621984
|
|
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter)
|
rs886054230
|
|
NM_000528.4(MAN2B1):c.159+2T>C
|
rs1057516501
|
|
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe)
|
rs864621975
|
|
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)
|
rs387906261
|
|
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)
|
rs398123456
|
|
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp)
|
rs864621994
|
|
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro)
|
rs1555706137
|
|
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)
|
rs758765126
|
|
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser)
|
rs864621991
|
|
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)
|
rs864621977
|
|
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly)
|
rs864622732
|
|
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys)
|
rs1571820092
|
|
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys)
|
rs1571820067
|
|
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu)
|
rs879254297
|
|
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala)
|
rs1553259760
|
|
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)
|
rs797044941
|
|
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn)
|
rs1553259647
|
|
NM_000530.8(MPZ):c.424G>T (p.Val142Phe)
|
rs876661257
|
|
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys)
|
rs121913603
|
|
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)
|
rs1571818632
|
|
NM_000530.8(MPZ):c.646-2A>G
|
rs1670228122
|
|
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)
|
rs755446743
|
|
NM_000530.8(MPZ):c.88A>G (p.Ile30Val)
|
rs1386345719
|
|
NM_000531.5(OTC):c.-116C>T
|
rs1555971006
|
|
NM_000531.6(OTC):c.608C>T (p.Ser203Phe)
|
rs72558410
|
|
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu)
|
rs142982097
|
|
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
|
|
|
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
|
|
|
NM_000532.5(PCCB):c.183+3G>C
|
rs398123461
|
|
NM_000532.5(PCCB):c.183+5G>A
|
rs879253813
|
|
NM_000532.5(PCCB):c.319G>A (p.Val107Met)
|
rs1553774114
|
|
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
|
rs760499581
|
|
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala)
|
rs1052979420
|
|
NM_000532.5(PCCB):c.749A>G (p.His250Arg)
|
rs1933813724
|
|
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser)
|
rs1553778909
|
|
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)
|
rs752029455
|
|
NM_000535.7(PMS2):c.163+5G>C
|
|
|
NM_000535.7(PMS2):c.2007-2_2007-1delinsCA
|
rs1782473185
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys)
|
rs200824831
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
NM_000535.7(PMS2):c.353+1G>A
|
rs113517055
|
|
NM_000535.7(PMS2):c.354-2A>G
|
rs786202098
|
|
NM_000535.7(PMS2):c.804-10T>G
|
rs267608151
|
|
NM_000535.7(PMS2):c.903+1G>A
|
rs1554300689
|
|
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr)
|
rs909264507
|
|
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys)
|
rs142322202
|
|
NM_000539.3(RHO):c.677T>C (p.Leu226Pro)
|
rs2084786958
|
|
NM_000540.3(RYR1):c.10501G>T (p.Asp3501Tyr)
|
rs763259167
|
|
NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu)
|
rs1600921854
|
|
NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys)
|
rs1600989183
|
|
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu)
|
rs193922842
|
|
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr)
|
rs777016690
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del)
|
rs1238215145
|
|
NM_000540.3(RYR1):c.12652T>C (p.Phe4218Leu)
|
rs1568581720
|
|
NM_000540.3(RYR1):c.12700G>A (p.Val4234Met)
|
|
|
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)
|
rs193922748
|
|
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)
|
rs753208767
|
|
NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val)
|
rs1599646668
|
|
NM_000540.3(RYR1):c.13724A>C (p.Asn4575Thr)
|
rs1568591803
|
|
NM_000540.3(RYR1):c.13918A>G (p.Met4640Val)
|
rs756850145
|
|
NM_000540.3(RYR1):c.13952A>G (p.His4651Arg)
|
rs118192139
|
|
NM_000540.3(RYR1):c.14104T>C (p.Trp4702Arg)
|
rs2145874187
|
|
NM_000540.3(RYR1):c.14285C>T (p.Pro4762Leu)
|
|
|
NM_000540.3(RYR1):c.14386T>C (p.Tyr4796His)
|
rs1568604251
|
|
NM_000540.3(RYR1):c.1440+2T>G
|
rs1555767403
|
|
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp)
|
rs886039586
|
|
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del)
|
rs1555803810
|
|
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys)
|
rs886042826
|
|
NM_000540.3(RYR1):c.14573A>G (p.Asn4858Ser)
|
rs1555803933
|
|
NM_000540.3(RYR1):c.14581C>A (p.Arg4861Ser)
|
|
|
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn)
|
rs587784373
|
|
NM_000540.3(RYR1):c.14642T>C (p.Met4881Thr)
|
rs1568605367
|
|
NM_000540.3(RYR1):c.14647-3_14647del
|
rs1568611362
|
|
NM_000540.3(RYR1):c.14672G>A (p.Gly4891Asp)
|
rs398123470
|
|
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)
|
rs118192170
|
|
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys)
|
rs886044196
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
NM_000540.3(RYR1):c.14801A>G (p.Gln4934Arg)
|
rs1568611775
|
|
NM_000540.3(RYR1):c.14809A>G (p.Ile4937Val)
|
rs2145917369
|
|
NM_000540.3(RYR1):c.14815G>A (p.Asp4939Asn)
|
rs760010175
|
|
NM_000540.3(RYR1):c.14817C>G (p.Asp4939Glu)
|
rs193922895
|
|
NM_000540.3(RYR1):c.14929G>C (p.Glu4977Gln)
|
rs200777598
|
|
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys)
|
rs757399861
|
|
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)
|
rs776252106
|
|
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr)
|
rs118192113
|
|
NM_000540.3(RYR1):c.2287G>A (p.Val763Met)
|
rs369947687
|
|
NM_000540.3(RYR1):c.3713_3715dup (p.Ser1238dup)
|
rs761789667
|
|
NM_000540.3(RYR1):c.3799C>A (p.Pro1267Thr)
|
rs564495912
|
|
NM_000540.3(RYR1):c.3800C>A (p.Pro1267His)
|
rs150495044
|
|
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg)
|
rs150495044
|
|
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg)
|
rs193922744
|
|
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp)
|
rs1568436081
|
|
NM_000540.3(RYR1):c.5435T>C (p.Leu1812Pro)
|
rs1969278145
|
|
NM_000540.3(RYR1):c.6220AAG[2] (p.Lys2076del)
|
|
|
NM_000540.3(RYR1):c.643G>A (p.Gly215Arg)
|
rs1393197844
|
|
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr)
|
rs745432757
|
|
NM_000540.3(RYR1):c.6612C>G (p.His2204Gln)
|
rs141646642
|
|
NM_000540.3(RYR1):c.6701G>A (p.Arg2234His)
|
|
|
NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg)
|
rs1969830618
|
|
NM_000540.3(RYR1):c.6814C>T (p.Pro2272Ser)
|
rs777460436
|
|
NM_000540.3(RYR1):c.7006C>T (p.Arg2336Cys)
|
rs1218605372
|
|
NM_000540.3(RYR1):c.7035C>G (p.Ser2345Arg)
|
rs1448949048
|
|
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met)
|
rs746971794
|
|
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)
|
rs1600822174
|
|
NM_000540.3(RYR1):c.7310C>T (p.Ala2437Val)
|
rs193922812
|
|
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln)
|
rs193922815
|
|
NM_000540.3(RYR1):c.8554C>T (p.Arg2852Ter)
|
rs886054396
|
|
NM_000540.3(RYR1):c.9130T>C (p.Cys3044Arg)
|
rs1970727401
|
|
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)
|
rs1568440962
|
|
NM_000540.3(RYR1):c.97A>G (p.Lys33Glu)
|
rs193922746
|
|
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp)
|
rs193922762
|
|
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.1547A>G (p.His516Arg)
|
rs754979734
|
|
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser)
|
rs2134024060
|
|
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro)
|
rs1554934109
|
|
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro)
|
rs780134410
|
|
NM_000543.5(SMPD1):c.56del (p.Gln19fs)
|
rs1554933746
|
|
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg)
|
rs1564923612
|
|
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe)
|
rs1847925080
|
|
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg)
|
rs757934797
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu)
|
rs202081954
|
|
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.1135C>T (p.Pro379Ser)
|
|
|
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)
|
rs371717826
|
|
NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile)
|
rs2135854451
|
|
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu)
|
rs1876667856
|
|
NM_000545.8(HNF1A):c.445A>G (p.Asn149Asp)
|
rs1565883574
|
|
NM_000545.8(HNF1A):c.526+5_526+8del
|
rs2135833007
|
|
NM_000545.8(HNF1A):c.616T>A (p.Trp206Arg)
|
rs1057524898
|
|
NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp)
|
rs1555211922
|
|
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp)
|
rs397516434
|
|
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
|
rs730881999
|
|
NM_000546.6(TP53):c.405C>G (p.Cys135Trp)
|
rs1057519976
|
|
NM_000546.6(TP53):c.427G>A (p.Val143Met)
|
rs587782620
|
|
NM_000546.6(TP53):c.464C>A (p.Thr155Asn)
|
rs786202752
|
|
NM_000546.6(TP53):c.470T>C (p.Val157Ala)
|
rs1131691023
|
|
NM_000546.6(TP53):c.482_487del (p.Ala161_Tyr163delinsAsp)
|
rs2073376974
|
|
NM_000546.6(TP53):c.528C>G (p.Cys176Trp)
|
rs1057519980
|
|
NM_000546.6(TP53):c.560-9T>A
|
rs794727781
|
|
NM_000546.6(TP53):c.569C>G (p.Pro190Arg)
|
rs876660825
|
|
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)
|
rs760043106
|
|
NM_000546.6(TP53):c.587G>T (p.Arg196Leu)
|
rs483352697
|
|
NM_000546.6(TP53):c.589G>A (p.Val197Met)
|
rs786204041
|
|
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)
|
rs1057520008
|
|
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)
|
rs1057520008
|
|
NM_000546.6(TP53):c.643A>G (p.Ser215Gly)
|
rs886039484
|
|
NM_000546.6(TP53):c.645T>G (p.Ser215Arg)
|
rs1057520001
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
NM_000546.6(TP53):c.655C>T (p.Pro219Ser)
|
rs879253894
|
|
NM_000546.6(TP53):c.698ACTACA[1] (p.Asn235_Tyr236del)
|
rs794727846
|
|
NM_000546.6(TP53):c.709A>G (p.Met237Val)
|
rs730882004
|
|
NM_000546.6(TP53):c.717C>G (p.Asn239Lys)
|
rs1057522275
|
|
NM_000546.6(TP53):c.724T>A (p.Cys242Ser)
|
rs1057519982
|
|
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)
|
rs863224451
|
|
NM_000546.6(TP53):c.827C>A (p.Ala276Asp)
|
rs786202082
|
|
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)
|
rs763098116
|
|
NM_000546.6(TP53):c.835G>A (p.Gly279Arg)
|
rs1555525248
|
|
NM_000546.6(TP53):c.836G>A (p.Gly279Glu)
|
rs1064793881
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
NM_000546.6(TP53):c.848G>C (p.Arg283Pro)
|
rs371409680
|
|
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala)
|
rs45484892
|
|
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)
|
rs137854298
|
|
NM_000548.5(TSC2):c.1257+5G>A
|
rs2151157428
|
|
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro)
|
rs397515206
|
|
NM_000548.5(TSC2):c.1778A>G (p.His593Arg)
|
rs45517198
|
|
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro)
|
rs1567458244
|
|
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro)
|
rs45517206
|
|
NM_000548.5(TSC2):c.2113G>A (p.Val705Met)
|
rs397515241
|
|
NM_000548.5(TSC2):c.225+2T>C
|
rs397515105
|
|
NM_000548.5(TSC2):c.2339T>C (p.Leu780Pro)
|
rs2151328709
|
|
NM_000548.5(TSC2):c.2355G>A (p.Gln785=)
|
rs2088708544
|
|
NM_000548.5(TSC2):c.2356-4_2356-3delinsAG
|
|
|
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu)
|
rs45517236
|
|
NM_000548.5(TSC2):c.2774A>G (p.Asp925Gly)
|
rs1555508942
|
|
NM_000548.5(TSC2):c.2859dup (p.Lys954fs)
|
rs796053504
|
|
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg)
|
rs2090628516
|
|
NM_000548.5(TSC2):c.5068G>A (p.Asp1690Asn)
|
rs137854882
|
|
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)
|
rs45517414
|
|
NM_000548.5(TSC2):c.884C>A (p.Ala295Asp)
|
rs1596288578
|
|
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg)
|
rs397515108
|
|
NM_000550.3(TYRP1):c.919G>A (p.Glu307Lys)
|
|
|
NM_000551.4(VHL):c.1A>G (p.Met1Val)
|
rs1060503557
|
|
NM_000551.4(VHL):c.250G>A (p.Val84Met)
|
rs5030827
|
|
NM_000551.4(VHL):c.311G>T (p.Gly104Val)
|
rs869025630
|
|
NM_000551.4(VHL):c.326T>A (p.Ile109Asn)
|
rs398123482
|
|
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys)
|
rs869025633
|
|
NM_000551.4(VHL):c.393C>A (p.Asn131Lys)
|
rs1064794272
|
|
NM_000551.4(VHL):c.558_560del (p.Glu186del)
|
rs1559429813
|
|
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)
|
rs28940300
|
|
NM_000551.4(VHL):c.593T>C (p.Leu198Pro)
|
rs869025667
|
|
NM_000552.5(VWF):c.2311A>G (p.Met771Val)
|
rs1212894308
|
|
NM_000552.5(VWF):c.3389G>A (p.Cys1130Tyr)
|
rs267607324
|
|
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr)
|
rs1591865026
|
|
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)
|
rs61749370
|
|
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
|
rs61749370
|
|
NM_000552.5(VWF):c.449T>C (p.Leu150Pro)
|
rs61753994
|
|
NM_000552.5(VWF):c.7483del (p.Leu2495fs)
|
rs1229452874
|
|
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)
|
rs149834874
|
|
NM_000553.6(WRN):c.1350+1G>T
|
rs752202315
|
|
NM_000553.6(WRN):c.1898+2T>G
|
rs772319506
|
|
NM_000553.6(WRN):c.3819+1G>C
|
rs748618811
|
|
NM_000554.6(CRX):c.124G>A (p.Glu42Lys)
|
rs863224863
|
|
NM_000554.6(CRX):c.605del (p.Cys202fs)
|
rs878853383
|
|
NM_000593.6(TAP1):c.1937G>A (p.Gly646Asp)
|
rs765527607
|
|
NM_000618.5(IGF1):c.274G>A (p.Val92Met)
|
rs121912430
|
|
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)
|
rs1131691438
|
|
NM_000642.3(AGL):c.4259+5G>A
|
rs780504025
|
|
NM_000642.3(AGL):c.772T>C (p.Ser258Pro)
|
rs886039873
|
|
NM_000701.8(ATP1A1):c.2707G>A (p.Gly903Arg)
|
rs983463553
|
|
NM_000702.4(ATP1A2):c.1133C>T (p.Thr378Ile)
|
rs28934002
|
|
NM_000702.4(ATP1A2):c.848C>T (p.Ala283Val)
|
rs1553244740
|
|
NM_000702.4(ATP1A2):c.970G>A (p.Gly324Ser)
|
rs1570987954
|
|
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)
|
rs755691417
|
|
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)
|
rs398123498
|
|
NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)
|
|
|
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val)
|
rs887411374
|
|
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp)
|
rs373713279
|
|
NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)
|
|
|
NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly)
|
rs764247545
|
|
NM_000718.4(CACNA1B):c.5536+1G>A
|
|
|
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs)
|
rs786205782
|
|
NM_000719.7(CACNA1C):c.2284C>T (p.Leu762Phe)
|
rs2061710859
|
|
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu)
|
rs750835733
|
|
NM_000719.7(CACNA1C):c.3631A>G (p.Lys1211Glu)
|
rs786205759
|
|
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile)
|
rs193922615
|
|
NM_000738.3(CHRM1):c.1274T>C (p.Phe425Ser)
|
rs2135039016
|
|
NM_000751.3(CHRND):c.932+5G>A
|
rs797045474
|
|
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg)
|
rs1470602732
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)
|
rs199638075
|
|
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)
|
rs144701596
|
|
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)
|
rs374507635
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del)
|
rs983649759
|
|
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)
|
|
|
NM_000814.6(GABRB3):c.756G>A (p.Met252Ile)
|
|
|
NM_000814.6(GABRB3):c.916A>G (p.Ile306Val)
|
rs1889965563
|
|
NM_000834.5(GRIN2B):c.1306T>C (p.Cys436Arg)
|
rs1565478152
|
|
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile)
|
rs1057519004
|
|
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1])
|
rs1555111511
|
|
NM_000834.5(GRIN2B):c.1946A>G (p.Asn649Ser)
|
rs879253945
|
|
NM_000834.5(GRIN2B):c.2471T>G (p.Met824Arg)
|
rs1565455878
|
|
NM_000834.5(GRIN2B):c.3332G>A (p.Arg1111His)
|
rs876661167
|
|
NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val)
|
|
|
NM_000875.5(IGF1R):c.3530G>A (p.Arg1177His)
|
rs1596476159
|
|
NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu)
|
rs1562989913
|
|
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His)
|
rs199473369
|
|
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr)
|
rs199473380
|
|
NM_000900.5(MGP):c.56G>A (p.Cys19Tyr)
|
rs1555094473
|
|
NM_000900.5(MGP):c.56G>T (p.Cys19Phe)
|
rs1555094473
|
|
NM_000937.5(POLR2A):c.418C>T (p.Arg140Trp)
|
rs1329988533
|
|
NM_000937.5(POLR2A):c.83C>G (p.Pro28Arg)
|
rs1388837601
|
|
NM_000944.5(PPP3CA):c.700G>C (p.Asp234His)
|
rs2110249848
|
|
NM_000969.5(RPL5):c.715A>G (p.Met239Val)
|
|
|
NM_000977.4(RPL13):c.548G>A (p.Arg183His)
|
rs1597676540
|
|
NM_001001331.4(ATP2B2):c.2765C>T (p.Ser922Leu)
|
rs1057520233
|
|
NM_001001548.3(CD36):c.1181_1185dup (p.Glu397fs)
|
rs757570230
|
|
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs)
|
rs780114238
|
|
NM_001001548.3(CD36):c.660_669del (p.Asn220fs)
|
rs778808650
|
|
NM_001002010.5(NT5C3A):c.895-2A>G
|
rs1583884979
|
|
NM_001002295.2(GATA3):c.790T>C (p.Cys264Arg)
|
rs767074039
|
|
NM_001003694.2(BRPF1):c.2812dup (p.Gln938fs)
|
rs762904815
|
|
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys)
|
rs797045412
|
|
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys)
|
rs1587667544
|
|
NM_001003841.3(SLC6A19):c.1296_1297del (p.Met432fs)
|
rs762942358
|
|
NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del)
|
rs1064794465
|
|
NM_001004334.4(GPR179):c.2427dup (p.Pro810fs)
|
rs757246221
|
|
NM_001004334.4(GPR179):c.3138_3139del (p.Glu1046fs)
|
rs776189685
|
|
NM_001005242.3(PKP2):c.1170+4_1170+7del
|
rs397516988
|
|
NM_001005242.3(PKP2):c.1415A>G (p.Lys472Arg)
|
rs749926313
|
|
NM_001005242.3(PKP2):c.1709T>C (p.Leu570Pro)
|
|
|
NM_001005242.3(PKP2):c.2357+5G>A
|
rs1555141020
|
|
NM_001005273.3(CHD3):c.2656C>T (p.His886Tyr)
|
rs2151569587
|
|
NM_001005273.3(CHD3):c.3559C>T (p.Arg1187Cys)
|
rs2151603656
|
|
NM_001005337.3(PKP1):c.1199C>T (p.Pro400Leu)
|
rs483352688
|
|
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)
|
rs267606772
|
|
NM_001005361.3(DNM2):c.1564C>T (p.Arg522Cys)
|
rs2072577342
|
|
NM_001005361.3(DNM2):c.1678G>A (p.Glu560Lys)
|
rs879254086
|
|
NM_001005373.4(LRSAM1):c.175-2A>T
|
rs1035054313
|
|
NM_001005373.4(LRSAM1):c.2033G>A (p.Cys678Tyr)
|
|
|
NM_001007228.2(SPOP):c.305T>G (p.Phe102Cys)
|
rs193920894
|
|
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His)
|
rs2111857835
|
|
NM_001008537.3(NEXMIF):c.864AGA[1] (p.Glu289del)
|
|
|
NM_001009944.3(PKD1):c.10850T>C (p.Leu3617Pro)
|
rs1567158067
|
|
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val)
|
rs1483214870
|
|
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln)
|
rs1555446330
|
|
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser)
|
rs1303102528
|
|
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp)
|
rs1555445740
|
|
NM_001009944.3(PKD1):c.12003+14_12003+33del
|
rs1567148835
|
|
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del)
|
rs1555444468
|
|
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu)
|
rs2091413514
|
|
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys)
|
rs1567216536
|
|
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val)
|
rs1060499699
|
|
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met)
|
rs2855341
|
|
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg)
|
rs58598099
|
|
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg)
|
rs1555458704
|
|
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)
|
rs1555458413
|
|
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg)
|
rs2151801188
|
|
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys)
|
rs1458516705
|
|
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del)
|
rs2092482302
|
|
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)
|
rs1567198691
|
|
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu)
|
rs2092438025
|
|
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys)
|
rs1596550613
|
|
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del)
|
rs1596550396
|
|
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro)
|
rs1567191044
|
|
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp)
|
rs151257298
|
|
NM_001009944.3(PKD1):c.7483T>A (p.Cys2495Ser)
|
rs2092338268
|
|
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del)
|
rs1596527370
|
|
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro)
|
rs1567177684
|
|
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)
|
rs1555449635
|
|
NM_001011658.4(TRAPPC2):c.239-10_239-7del
|
rs2146773091
|
|
NM_001012339.3(DNAJC21):c.434A>G (p.Asp145Gly)
|
|
|
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val)
|
rs199476306
|
|
NM_001018005.2(TPM1):c.457C>G (p.His153Asp)
|
rs397516372
|
|
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln)
|
rs727504290
|
|
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr)
|
rs199476312
|
|
NM_001018005.2(TPM1):c.533G>A (p.Arg178His)
|
rs397516375
|
|
NM_001018005.2(TPM1):c.592A>G (p.Lys198Glu)
|
rs730881140
|
|
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys)
|
rs397516486
|
|
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn)
|
rs727503518
|
|
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val)
|
rs397516387
|
|
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)
|
|
|
NM_001024630.4(RUNX2):c.436G>A (p.Gly146Arg)
|
|
|
NM_001025356.3(ANO6):c.2339_2342del (p.Leu780fs)
|
|
|
NM_001029.5(RPS26):c.344T>C (p.Met115Thr)
|
|
|
NM_001029883.3(PCARE):c.707T>G (p.Ile236Ser)
|
rs1396413765
|
|
NM_001029896.2(WDR45):c.827+2dup
|
rs1602537729
|
|
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala)
|
rs1554286384
|
|
NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val)
|
rs1554778420
|
|
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del)
|
rs796053381
|
|
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)
|
rs786205598
|
|
NM_001032382.2(PQBP1):c.181G>A (p.Gly61Arg)
|
rs2147471872
|
|
NM_001032386.2(SUOX):c.352C>T (p.His118Tyr)
|
|
|
NM_001033044.4(GLUL):c.-13-2A>G
|
rs2101936731
|
|
NM_001033044.4(GLUL):c.1A>G (p.Met1Val)
|
rs1131691970
|
|
NM_001033044.4(GLUL):c.3G>A (p.Met1Ile)
|
rs2101936697
|
|
NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn)
|
rs1839765652
|
|
NM_001033855.3(DCLRE1C):c.82G>C (p.Ala28Pro)
|
|
|
NM_001033855.3(DCLRE1C):c.95C>G (p.Ser32Cys)
|
|
|
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe)
|
rs969498121
|
|
NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs)
|
rs2067170858
|
|
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro)
|
rs1064797366
|
|
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly)
|
rs62638643
|
|
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu)
|
rs786205455
|
|
NM_001035.3(RYR2):c.1250G>T (p.Arg417Leu)
|
rs751428303
|
|
NM_001035.3(RYR2):c.12526G>A (p.Val4176Met)
|
rs794728828
|
|
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val)
|
rs794728792
|
|
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp)
|
rs794728799
|
|
NM_001035.3(RYR2):c.14173T>A (p.Tyr4725Asn)
|
rs876661387
|
|
NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg)
|
rs1402571360
|
|
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp)
|
rs886038888
|
|
NM_001035.3(RYR2):c.6829T>C (p.Cys2277Arg)
|
rs794727676
|
|
NM_001035.3(RYR2):c.6899A>G (p.Asp2300Gly)
|
rs1681104142
|
|
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys)
|
rs786205830
|
|
NM_001037.5(SCN1B):c.448+201C>T
|
rs2151746638
|
|
NM_001037.5(SCN1B):c.449-2A>G
|
rs1600370558
|
|
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs)
|
rs750744696
|
|
NM_001039348.3(EFEMP1):c.163T>C (p.Cys55Arg)
|
rs1572851186
|
|
NM_001039876.3(SYNE4):c.973-2A>T
|
|
|
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs)
|
rs747392139
|
|
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln)
|
rs755003900
|
|
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro)
|
rs796053116
|
|
NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile)
|
rs1699477928
|
|
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp)
|
rs796053121
|
|
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr)
|
rs1057518373
|
|
NM_001040142.2(SCN2A):c.2939C>G (p.Ala980Gly)
|
rs1700069190
|
|
NM_001040142.2(SCN2A):c.3643G>T (p.Val1215Phe)
|
rs1064795832
|
|
NM_001040142.2(SCN2A):c.4534C>T (p.Pro1512Ser)
|
rs1558879940
|
|
NM_001040142.2(SCN2A):c.5485C>T (p.Leu1829Phe)
|
rs1553463676
|
|
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)
|
rs2105403536
|
|
NM_001040142.2(SCN2A):c.622G>A (p.Val208Met)
|
rs1064796373
|
|
NM_001040616.3(LINS1):c.431del (p.Leu144fs)
|
rs764442764
|
|
NM_001040716.2(PC):c.1185+5_1185+8del
|
rs748620956
|
|
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr)
|
rs796052029
|
|
NM_001040716.2(PC):c.1825+1G>A
|
rs1565214970
|
|
NM_001040716.2(PC):c.1876C>T (p.Arg626Trp)
|
rs1591122325
|
|
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp)
|
rs1555015018
|
|
NM_001040716.2(PC):c.584C>T (p.Ala195Val)
|
rs1436643226
|
|
NM_001040716.2(PC):c.788G>A (p.Arg263Gln)
|
rs769177104
|
|
NM_001040716.2(PC):c.796T>G (p.Ser266Ala)
|
rs113994142
|
|
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer)
|
rs776569472
|
|
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu)
|
rs386833733
|
|
NM_001042432.2(CLN3):c.790+3A>C
|
rs386833738
|
|
NM_001042492.3(NF1):c.-272G>A
|
rs1911510393
|
|
NM_001042492.3(NF1):c.1062+3A>G
|
rs1057521098
|
|
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser)
|
rs1567836090
|
|
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser)
|
rs1555611581
|
|
NM_001042492.3(NF1):c.1405A>G (p.Lys469Glu)
|
rs1555612271
|
|
NM_001042492.3(NF1):c.1527+2dup
|
rs1597698533
|
|
NM_001042492.3(NF1):c.1527+5G>C
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro)
|
rs886052798
|
|
NM_001042492.3(NF1):c.1655T>C (p.Leu552Pro)
|
rs1555613193
|
|
NM_001042492.3(NF1):c.204+3_204+6del
|
rs1567814632
|
|
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro)
|
rs1131691132
|
|
NM_001042492.3(NF1):c.2117C>T (p.Ala706Val)
|
rs2151425819
|
|
NM_001042492.3(NF1):c.2325+3A>T
|
|
|
NM_001042492.3(NF1):c.2410-13A>G
|
rs1567848711
|
|
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg)
|
rs1555605393
|
|
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser)
|
rs1135402831
|
|
NM_001042492.3(NF1):c.281T>G (p.Leu94Arg)
|
rs1597629884
|
|
NM_001042492.3(NF1):c.288+4A>G
|
rs781459468
|
|
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys)
|
rs1555614438
|
|
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro)
|
rs1597716348
|
|
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu)
|
rs1555614619
|
|
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp)
|
rs2067137147
|
|
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala)
|
rs2067142076
|
|
NM_001042492.3(NF1):c.3589G>A (p.Ala1197Thr)
|
rs2151435523
|
|
NM_001042492.3(NF1):c.3590C>T (p.Ala1197Val)
|
rs370820478
|
|
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg)
|
rs1555615047
|
|
NM_001042492.3(NF1):c.3974+260T>G
|
rs1567853044
|
|
NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg)
|
rs2151451647
|
|
NM_001042492.3(NF1):c.4226T>G (p.Met1409Arg)
|
rs1555618508
|
|
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His)
|
rs1555618518
|
|
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro)
|
rs199474733
|
|
NM_001042492.3(NF1):c.4382T>G (p.Met1461Arg)
|
rs754639587
|
|
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro)
|
rs2151470213
|
|
NM_001042492.3(NF1):c.479+5G>T
|
rs1567818033
|
|
NM_001042492.3(NF1):c.5033A>G (p.Tyr1678Cys)
|
rs1555533347
|
|
NM_001042492.3(NF1):c.5285T>A (p.Val1762Asp)
|
rs1555533550
|
|
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro)
|
rs2151541565
|
|
NM_001042492.3(NF1):c.5548G>T (p.Val1850Phe)
|
rs1597832397
|
|
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)
|
rs1567820765
|
|
NM_001042492.3(NF1):c.5609+5G>T
|
rs1597832498
|
|
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del)
|
rs1131691081
|
|
NM_001042492.3(NF1):c.5651T>G (p.Phe1884Cys)
|
|
|
NM_001042492.3(NF1):c.5711A>G (p.Asn1904Ser)
|
rs864622647
|
|
NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg)
|
rs786203824
|
|
NM_001042492.3(NF1):c.5787G>T (p.Glu1929Asp)
|
rs786202591
|
|
NM_001042492.3(NF1):c.5836T>A (p.Leu1946Met)
|
rs1422333640
|
|
NM_001042492.3(NF1):c.586G>A (p.Glu196Lys)
|
rs876659079
|
|
NM_001042492.3(NF1):c.590C>G (p.Thr197Arg)
|
rs1597658021
|
|
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro)
|
rs1555534411
|
|
NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg)
|
rs2069606635
|
|
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His)
|
rs1555534432
|
|
NM_001042492.3(NF1):c.6118T>C (p.Ser2040Pro)
|
rs1567616704
|
|
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe)
|
rs2069671270
|
|
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn)
|
rs1135402882
|
|
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro)
|
rs199474756
|
|
NM_001042492.3(NF1):c.6642+18A>G
|
rs1555534893
|
|
NM_001042492.3(NF1):c.6705-17G>A
|
rs1064795966
|
|
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn)
|
rs1060500373
|
|
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg)
|
rs1597848100
|
|
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg)
|
rs1555535179
|
|
NM_001042492.3(NF1):c.7025T>G (p.Leu2342Arg)
|
rs2151561874
|
|
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del)
|
rs1085307506
|
|
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro)
|
rs1567826623
|
|
NM_001042492.3(NF1):c.7970+4_7970+7del
|
rs1064794279
|
|
NM_001042492.3(NF1):c.7970+5G>A
|
rs1567627286
|
|
NM_001042492.3(NF1):c.888+789A>G
|
rs1597660974
|
|
NM_001042492.3(NF1):c.99A>G (p.Lys33=)
|
rs786203280
|
|
NM_001042603.3(KDM5A):c.1726C>T (p.Gln576Ter)
|
rs773333271
|
|
NM_001042681.2(RERE):c.1681_1684del (p.Glu561fs)
|
rs1641706044
|
|
NM_001042750.2(STAG2):c.2860C>T (p.Arg954Cys)
|
rs1603150613
|
|
NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp)
|
rs1579729357
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
NM_001048174.2(MUTYH):c.1258C>G (p.His420Asp)
|
rs786202133
|
|
NM_001048174.2(MUTYH):c.1417C>T (p.Gln473Ter)
|
rs932830392
|
|
NM_001048174.2(MUTYH):c.1434+4A>G
|
rs876658323
|
|
NM_001048174.2(MUTYH):c.1466_1467delinsAG (p.Cys489Ter)
|
rs587782716
|
|
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)
|
rs748170941
|
|
NM_001048174.2(MUTYH):c.299A>G (p.Tyr100Cys)
|
rs876660615
|
|
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
|
|
|
NM_001048174.2(MUTYH):c.317A>T (p.Glu106Val)
|
rs864622450
|
|
NM_001048174.2(MUTYH):c.420G>A (p.Glu140=)
|
rs876658641
|
|
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)
|
rs1057517765
|
|
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
|
rs587780749
|
|
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)
|
rs104895271
|
|
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His)
|
rs1057521250
|
|
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu)
|
rs1554122947
|
|
NM_001069.3(TUBB2A):c.872A>C (p.Gln291Pro)
|
rs863224939
|
|
NM_001077197.2(PDE11A):c.20_21del (p.Arg7fs)
|
rs202117698
|
|
NM_001077350.3(NPRL3):c.1559dup (p.Arg521fs)
|
rs2141895084
|
|
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro)
|
rs1899872500
|
|
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu)
|
rs1898841618
|
|
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)
|
rs138902646
|
|
NM_001077620.3(PRCD):c.74C>T (p.Pro25Leu)
|
rs757471313
|
|
NM_001079.4(ZAP70):c.1748G>A (p.Arg583His)
|
rs1017182331
|
|
NM_001079668.3(NKX2-1):c.606G>C (p.Gln202His)
|
rs762575015
|
|
NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu)
|
rs1057519223
|
|
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del)
|
rs1554766855
|
|
NM_001079802.2(FKTN):c.748T>C (p.Cys250Arg)
|
rs398123558
|
|
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly)
|
rs267606814
|
|
NM_001079866.2(BCS1L):c.-49-539T>A
|
rs386833855
|
|
NM_001079866.2(BCS1L):c.320+1G>T
|
rs386833856
|
|
NM_001079866.2(BCS1L):c.399del (p.Glu133fs)
|
rs751484879
|
|
NM_001080.3(ALDH5A1):c.1015-3C>G
|
rs2127387935
|
|
NM_001080.3(ALDH5A1):c.1267A>G (p.Thr423Ala)
|
|
|
NM_001080.3(ALDH5A1):c.1498G>C (p.Val500Leu)
|
rs999671766
|
|
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu)
|
rs2076985517
|
|
NM_001080449.3(DNA2):c.1244del (p.Cys415fs)
|
|
|
NM_001080449.3(DNA2):c.662C>G (p.Ala221Gly)
|
rs751031650
|
|
NM_001080510.5(METTL23):c.275CAC[1] (p.Pro93del)
|
rs773937309
|
|
NM_001080517.3(SETD5):c.1043G>A (p.Arg348Gln)
|
rs2125194268
|
|
NM_001080517.3(SETD5):c.1782+1G>T
|
|
|
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs)
|
rs765301342
|
|
NM_001082971.2(DDC):c.478C>T (p.Arg160Trp)
|
rs886062374
|
|
NM_001083116.3(PRF1):c.443C>G (p.Ala148Gly)
|
rs142012387
|
|
NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del)
|
rs764610550
|
|
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe)
|
rs587784460
|
|
NM_001083962.2(TCF4):c.1744C>T (p.Arg582Cys)
|
rs2047109965
|
|
NM_001083962.2(TCF4):c.1774G>A (p.Gly592Ser)
|
rs751190049
|
|
NM_001089.3(ABCA3):c.1112-20G>A
|
|
|
NM_001098.3(ACO2):c.1802G>A (p.Gly601Asp)
|
rs863223881
|
|
NM_001098.3(ACO2):c.2011C>T (p.Arg671Trp)
|
rs377518755
|
|
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser)
|
rs1060499609
|
|
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter)
|
rs1060499576
|
|
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val)
|
rs137853322
|
|
NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val)
|
rs2148407095
|
|
NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu)
|
rs1553255312
|
|
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser)
|
rs398123563
|
|
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu)
|
rs748592740
|
|
NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys)
|
rs878854374
|
|
NM_001100913.3(PACS2):c.623C>T (p.Ser208Phe)
|
rs2141147698
|
|
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu)
|
rs886041309
|
|
NM_001101.5(ACTB):c.1066T>C (p.Trp356Arg)
|
rs2128241170
|
|
NM_001101.5(ACTB):c.124G>A (p.Gly42Ser)
|
rs1562719872
|
|
NM_001102564.3(IFT43):c.8A>G (p.Asp3Gly)
|
rs144776609
|
|
NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys)
|
rs1559655653
|
|
NM_001110219.3(GJB6):c.63del (p.Lys22fs)
|
rs770612890
|
|
NM_001110556.2(FLNA):c.134A>G (p.Gln45Arg)
|
rs398123613
|
|
NM_001110556.2(FLNA):c.382G>A (p.Ala128Thr)
|
|
|
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)
|
rs137853317
|
|
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala)
|
rs61751449
|
|
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val)
|
rs587783104
|
|
NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys)
|
rs267608642
|
|
NM_001110792.2(MECP2):c.1A>G (p.Met1Val)
|
rs587783132
|
|
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu)
|
rs587783132
|
|
NM_001110792.2(MECP2):c.2T>C (p.Met1Thr)
|
rs2066907057
|
|
NM_001110792.2(MECP2):c.325G>T (p.Asp109Tyr)
|
rs61754448
|
|
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser)
|
rs61754452
|
|
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys)
|
rs267608388
|
|
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro)
|
rs61748383
|
|
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp)
|
rs267608470
|
|
NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly)
|
rs61748403
|
|
NM_001110792.2(MECP2):c.503A>C (p.Asp168Ala)
|
rs61748407
|
|
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly)
|
rs61748407
|
|
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile)
|
rs61748410
|
|
NM_001110792.2(MECP2):c.517G>T (p.Gly173Trp)
|
rs61748416
|
|
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val)
|
rs61748417
|
|
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu)
|
rs61749723
|
|
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu)
|
rs61751440
|
|
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg)
|
rs61751441
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)
|
rs1602260263
|
|
NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp)
|
rs2074117985
|
|
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter)
|
rs1849236683
|
|
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)
|
rs2131885751
|
|
NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr)
|
rs1131691931
|
|
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser)
|
rs1830433526
|
|
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly)
|
rs1554809363
|
|
NM_001114753.3(ENG):c.1586G>A (p.Arg529His)
|
rs863223538
|
|
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)
|
rs1830376644
|
|
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)
|
rs1830302008
|
|
NM_001114753.3(ENG):c.512G>C (p.Arg171Pro)
|
rs756980265
|
|
NM_001114753.3(ENG):c.569T>A (p.Met190Lys)
|
rs1830602163
|
|
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)
|
rs1830597676
|
|
NM_001114753.3(ENG):c.713T>A (p.Val238Glu)
|
rs1060501415
|
|
NM_001122630.2(CDKN1C):c.100G>A (p.Glu34Lys)
|
rs1848977184
|
|
NM_001122659.3(EDNRB):c.350_361del (p.Ile117_Ser120del)
|
|
|
NM_001126108.2(SLC12A3):c.1001G>A (p.Arg334Gln)
|
|
|
NM_001126108.2(SLC12A3):c.1045C>G (p.Pro349Ala)
|
|
|
NM_001126108.2(SLC12A3):c.671C>A (p.Ala224Asp)
|
rs1437937060
|
|
NM_001127178.3(PIGG):c.1030A>C (p.Met344Leu)
|
rs757141700
|
|
NM_001127178.3(PIGG):c.641A>G (p.His214Arg)
|
|
|
NM_001127222.2(CACNA1A):c.1039G>A (p.Gly347Ser)
|
rs977960069
|
|
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg)
|
rs2144980758
|
|
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)
|
rs764839814
|
|
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup)
|
rs776584949
|
|
NM_001127222.2(CACNA1A):c.3946G>A (p.Asp1316Asn)
|
rs1568485068
|
|
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln)
|
rs1568447650
|
|
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met)
|
rs1057521920
|
|
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)
|
rs1555736565
|
|
NM_001127222.2(CACNA1A):c.5702G>A (p.Arg1901His)
|
rs2144595024
|
|
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)
|
rs797045424
|
|
NM_001127222.2(CACNA1A):c.631+5G>A
|
rs786200963
|
|
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg)
|
rs1057522420
|
|
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)
|
rs1555773764
|
|
NM_001127453.2(GSDME):c.212-1G>A
|
rs1790597003
|
|
NM_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser)
|
rs1561587910
|
|
NM_001127644.2(GABRA1):c.610C>T (p.Arg204Cys)
|
|
|
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)
|
rs727503940
|
|
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile)
|
rs796052492
|
|
NM_001127644.2(GABRA1):c.851T>C (p.Val284Ala)
|
rs794727962
|
|
NM_001127644.2(GABRA1):c.859G>A (p.Val287Ile)
|
rs796052493
|
|
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile)
|
rs796052496
|
|
NM_001127644.2(GABRA1):c.923C>A (p.Ala308Asp)
|
rs1554087620
|
|
NM_001127644.2(GABRA1):c.932C>T (p.Thr311Ile)
|
rs1581220210
|
|
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)
|
rs61752132
|
|
NM_001127649.3(PEX26):c.228C>T (p.Gly76=)
|
rs786205556
|
|
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His)
|
rs863225436
|
|
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)
|
rs794727279
|
|
NM_001128636.4(ELFN1):c.42_49del (p.Ala15fs)
|
rs2128605586
|
|
NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu)
|
rs869320716
|
|
NM_001130004.2(ACTN1):c.1019C>T (p.Thr340Met)
|
rs1594771155
|
|
NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met)
|
rs372031019
|
|
NM_001130004.2(ACTN1):c.2212C>T (p.Arg738Trp)
|
rs387907349
|
|
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln)
|
rs1567871600
|
|
NM_001130144.3(LTBP3):c.3877_3909dup (p.Pro1293_Arg1303dup)
|
rs2135114515
|
|
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys)
|
rs199473690
|
|
NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg)
|
rs1599366076
|
|
NM_001130987.2(DYSF):c.1003-3C>A
|
rs2087101244
|
|
NM_001130987.2(DYSF):c.1033+4A>T
|
rs1397221551
|
|
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg)
|
rs766891289
|
|
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu574_Leu575insVal)
|
rs1446214240
|
|
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)
|
rs886042878
|
|
NM_001130987.2(DYSF):c.2697+5G>A
|
rs2092213253
|
|
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)
|
rs727503910
|
|
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)
|
rs141704244
|
|
NM_001130987.2(DYSF):c.5060A>G (p.Tyr1687Cys)
|
rs1553412643
|
|
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)
|
rs398123807
|
|
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly)
|
rs267607005
|
|
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs)
|
rs727504763
|
|
NM_001134363.3(RBM20):c.3267dup (p.Ile1090fs)
|
rs760334885
|
|
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser)
|
rs757713617
|
|
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln)
|
rs753203288
|
|
NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly)
|
rs1057518070
|
|
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr)
|
rs796052550
|
|
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr)
|
rs1555483699
|
|
NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys)
|
rs1572996700
|
|
NM_001139.3(ALOX12B):c.46_48del (p.Ser16del)
|
rs886053573
|
|
NM_001139.3(ALOX12B):c.769C>G (p.His257Asp)
|
rs1233776328
|
|
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn)
|
rs1977170764
|
|
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu)
|
rs1567985822
|
|
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro)
|
rs1977160529
|
|
NM_001142800.2(EYS):c.1299+5_1299+8del
|
rs1562140604
|
|
NM_001142800.2(EYS):c.2000G>A (p.Arg667His)
|
rs549456693
|
|
NM_001142800.2(EYS):c.2023+5G>T
|
rs1287889008
|
|
NM_001142800.2(EYS):c.525_527del (p.Glu176del)
|
rs780433094
|
|
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser)
|
rs915505702
|
|
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly)
|
rs1554163993
|
|
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs)
|
rs886044149
|
|
NM_001142864.4(PIEZO1):c.5389C>T (p.Arg1797Cys)
|
|
|
NM_001142864.4(PIEZO1):c.6328C>T (p.Arg2110Trp)
|
|
|
NM_001144061.2(COPB1):c.-57-2A>G
|
|
|
NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=)
|
rs774544844
|
|
NM_001148.6(ANK2):c.11859+2T>G
|
|
|
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys)
|
rs1556639109
|
|
NM_001159699.2(FHL1):c.509A>C (p.His170Pro)
|
rs1484795726
|
|
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro)
|
rs2132705299
|
|
NM_001161352.2(KCNMA1):c.1987A>G (p.Ile663Val)
|
rs2092522027
|
|
NM_001161352.2(KCNMA1):c.2572C>T (p.Arg858Trp)
|
rs199681253
|
|
NM_001161352.2(KCNMA1):c.2593C>T (p.Arg865Cys)
|
rs1591664697
|
|
NM_001163435.3(TBCK):c.1740CTT[2] (p.Phe582del)
|
rs909658169
|
|
NM_001163435.3(TBCK):c.2512C>T (p.Gln838Ter)
|
rs1740799305
|
|
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?)
|
rs1592107594
|
|
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)
|
rs786204477
|
|
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del)
|
rs1432360280
|
|
NM_001164508.2(NEB):c.1569+1G>A
|
rs1553605553
|
|
NM_001164508.2(NEB):c.19102-10_19102-4del
|
rs1577576425
|
|
NM_001164508.2(NEB):c.2211+5G>A
|
rs797045736
|
|
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg)
|
rs1575897069
|
|
NM_001164508.2(NEB):c.23929-2A>C
|
rs1553569122
|
|
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup)
|
rs1288870299
|
|
NM_001164508.2(NEB):c.5031+1G>A
|
rs1553495140
|
|
NM_001164760.2(PRKAR1B):c.586G>A (p.Glu196Lys)
|
rs76344857
|
|
NM_001165963.4(SCN1A):c.1091G>T (p.Ser364Ile)
|
rs752775574
|
|
NM_001165963.4(SCN1A):c.1204T>C (p.Phe402Leu)
|
rs796053094
|
|
NM_001165963.4(SCN1A):c.2360T>C (p.Met787Thr)
|
rs773695263
|
|
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)
|
rs121918785
|
|
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met)
|
rs796052986
|
|
NM_001165963.4(SCN1A):c.2941C>A (p.Leu981Ile)
|
rs1057518112
|
|
NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn)
|
|
|
NM_001165963.4(SCN1A):c.3632G>A (p.Cys1211Tyr)
|
rs1574060743
|
|
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp)
|
rs1553532470
|
|
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro)
|
rs398123592
|
|
NM_001165963.4(SCN1A):c.383+5C>A
|
rs1060502185
|
|
NM_001165963.4(SCN1A):c.3879+5G>A
|
rs796052999
|
|
NM_001165963.4(SCN1A):c.3879+5G>T
|
rs796052999
|
|
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro)
|
rs1553525337
|
|
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)
|
rs1690574155
|
|
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)
|
rs1573991676
|
|
NM_001165963.4(SCN1A):c.4338+5G>A
|
rs796053011
|
|
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)
|
rs796053090
|
|
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)
|
rs575368466
|
|
NM_001165963.4(SCN1A):c.5053G>T (p.Ala1685Ser)
|
rs760249153
|
|
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
|
|
|
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn)
|
rs796053035
|
|
NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser)
|
rs797045940
|
|
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser)
|
rs794727415
|
|
NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp)
|
rs756519197
|
|
NM_001165963.4(SCN1A):c.672G>C (p.Leu224Phe)
|
|
|
NM_001165963.4(SCN1A):c.748G>A (p.Val250Ile)
|
rs796052962
|
|
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)
|
rs779184118
|
|
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg)
|
rs1602544454
|
|
NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile)
|
rs1057517687
|
|
NM_001171.6(ABCC6):c.2293C>G (p.Arg765Gly)
|
rs776513864
|
|
NM_001171.6(ABCC6):c.4279G>A (p.Glu1427Lys)
|
|
|
NM_001173464.2(KIF21A):c.1991T>C (p.Leu664Pro)
|
rs1555167299
|
|
NM_001174147.2(LMX1B):c.226T>G (p.Trp76Gly)
|
rs1057520783
|
|
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs)
|
rs752472169
|
|
NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys)
|
rs747597620
|
|
NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr)
|
rs886059849
|
|
NM_001182.5(ALDH7A1):c.494G>T (p.Gly165Val)
|
rs375491094
|
|
NM_001182.5(ALDH7A1):c.826A>C (p.Thr276Pro)
|
rs796052260
|
|
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro)
|
rs1602636688
|
|
NM_001184880.2(PCDH19):c.1435G>A (p.Asp479Asn)
|
rs1064794763
|
|
NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro)
|
rs1928375454
|
|
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg)
|
rs796052819
|
|
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile)
|
rs863224907
|
|
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)
|
rs369638371
|
|
NM_001194.4(HCN2):c.1106A>G (p.Asn369Ser)
|
rs2144519137
|
|
NM_001194.4(HCN2):c.1432_1434del (p.Glu478del)
|
rs2144522815
|
|
NM_001195263.2(PDZD7):c.2796_2798del (p.Arg933del)
|
rs770336804
|
|
NM_001195263.2(PDZD7):c.2850del (p.Ser953fs)
|
rs1025144704
|
|
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)
|
rs200664140
|
|
NM_001195553.2(DCX):c.263C>T (p.Thr88Met)
|
|
|
NM_001197104.2(KMT2A):c.2719C>T (p.Pro907Ser)
|
rs1064797056
|
|
NM_001199107.2(TBC1D24):c.1171C>G (p.Pro391Ala)
|
rs1435411888
|
|
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu)
|
rs1057519630
|
|
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg)
|
rs574204412
|
|
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter)
|
rs1057523275
|
|
NM_001202.6(BMP4):c.928C>T (p.Arg310Cys)
|
rs770777693
|
|
NM_001205293.3(CACNA1E):c.586C>T (p.Arg196Trp)
|
rs1651121815
|
|
NM_001212.4(C1QBP):c.562_564del (p.Tyr188del)
|
rs755568057
|
|
NM_001212.4(C1QBP):c.576+2T>A
|
|
|
NM_001220.5(CAMK2B):c.560G>A (p.Arg187His)
|
|
|
NM_001242957.3(MAK):c.1700_1703del (p.Asn567fs)
|
rs1347914291
|
|
NM_001243226.3(TCF4):c.74del (p.Asn25fs)
|
rs752700752
|
|
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
|
|
|
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)
|
rs140328142
|
|
NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro)
|
rs672601368
|
|
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln)
|
rs749718096
|
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln)
|
rs775399768
|
|
NM_001253852.3(AP4B1):c.1328T>C (p.Leu443Pro)
|
rs746890435
|
|
NM_001253852.3(AP4B1):c.338+5G>A
|
rs1019204290
|
|
NM_001256071.3(RNF213):c.14566T>C (p.Cys4856Arg)
|
rs2080231811
|
|
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile)
|
rs727503492
|
|
NM_001256317.3(TMPRSS3):c.1180G>C (p.Asp394His)
|
rs111033537
|
|
NM_001256317.3(TMPRSS3):c.1333G>A (p.Glu445Lys)
|
|
|
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)
|
rs2065880189
|
|
NM_001256789.3(CACNA1F):c.3020G>A (p.Gly1007Glu)
|
rs1064794711
|
|
NM_001257180.2(SLC20A2):c.1784C>T (p.Thr595Met)
|
rs387906654
|
|
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)
|
rs150857620
|
|
NM_001267550.2(TTN):c.10285_10288dup (p.Asn3430fs)
|
rs2088191243
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
NM_001267550.2(TTN):c.105428del (p.Gly35143fs)
|
rs886042825
|
|
NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter)
|
rs886042795
|
|
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs)
|
|
|
NM_001267550.2(TTN):c.12405del (p.Asn4135fs)
|
rs727503658
|
|
NM_001267550.2(TTN):c.15691C>T (p.Gln5231Ter)
|
|
|
NM_001267550.2(TTN):c.15775+1G>A
|
rs1353528319
|
|
NM_001267550.2(TTN):c.22745_22746del (p.Ser7582fs)
|
rs779549899
|
|
NM_001267550.2(TTN):c.30356_30359del (p.Glu10119fs)
|
rs2154290001
|
|
NM_001267550.2(TTN):c.31846+1G>A
|
rs794727043
|
|
NM_001267550.2(TTN):c.32240G>A (p.Gly10747Asp)
|
rs1328991757
|
|
NM_001267550.2(TTN):c.36087_36090del (p.Ser12030fs)
|
rs2154260181
|
|
NM_001267550.2(TTN):c.3742_3745del (p.Ser1248fs)
|
rs2154347788
|
|
NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter)
|
rs974323028
|
|
NM_001267550.2(TTN):c.40537del (p.Glu13513fs)
|
rs1553756349
|
|
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu)
|
rs587780488
|
|
NM_001267550.2(TTN):c.40723+1del
|
rs876658058
|
|
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter)
|
rs869312043
|
|
NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter)
|
rs794729380
|
|
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs)
|
rs1553742630
|
|
NM_001267550.2(TTN):c.43141C>T (p.Gln14381Ter)
|
rs754568652
|
|
NM_001267550.2(TTN):c.44281+1G>A
|
rs771562210
|
|
NM_001267550.2(TTN):c.44338del (p.Thr14780fs)
|
|
|
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter)
|
rs368200299
|
|
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter)
|
rs1554008881
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
NM_001267550.2(TTN):c.48638+5G>T
|
rs397517594
|
|
NM_001267550.2(TTN):c.51739+1G>C
|
rs727504799
|
|
NM_001267550.2(TTN):c.53881+5G>T
|
rs753527304
|
|
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)
|
rs144135510
|
|
NM_001267550.2(TTN):c.64688del (p.Pro21563fs)
|
rs774395395
|
|
NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter)
|
rs1193046655
|
|
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter)
|
rs748313513
|
|
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter)
|
rs145649088
|
|
NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs)
|
rs794729397
|
|
NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter)
|
rs727503688
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
NM_001267550.2(TTN):c.87716del (p.Gly29239fs)
|
rs869312028
|
|
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs)
|
rs779129892
|
|
NM_001267550.2(TTN):c.9220C>T (p.Arg3074Ter)
|
rs780706937
|
|
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)
|
rs869320739
|
|
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp)
|
rs869320744
|
|
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs)
|
rs1275153634
|
|
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu)
|
rs1060503519
|
|
NM_001271.4(CHD2):c.236T>C (p.Leu79Pro)
|
|
|
NM_001271.4(CHD2):c.2705A>G (p.His902Arg)
|
rs2053935622
|
|
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
|
|
|
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu)
|
rs1555444603
|
|
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys)
|
rs2054200789
|
|
NM_001273.5(CHD4):c.3326T>C (p.Ile1109Thr)
|
rs2136213384
|
|
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser)
|
rs397516451
|
|
NM_001276345.2(TNNT2):c.286G>A (p.Asp96Asn)
|
rs1553282768
|
|
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn)
|
rs397516459
|
|
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys)
|
rs397516465
|
|
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His)
|
rs397516466
|
|
NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln)
|
rs121964860
|
|
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)
|
rs369181536
|
|
NM_001276345.2(TNNT2):c.851+5G>A
|
rs193922620
|
|
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro)
|
rs397516484
|
|
NM_001277115.2(DNAH11):c.4095+2C>A
|
rs532007878
|
|
NM_001277115.2(DNAH11):c.495+1G>T
|
|
|
NM_001278116.2(L1CAM):c.179G>T (p.Ser60Ile)
|
|
|
NM_001278116.2(L1CAM):c.3500C>T (p.Pro1167Leu)
|
rs2064682269
|
|
NM_001278512.2(AP3B2):c.3235_3238del (p.Thr1079fs)
|
rs756807665
|
|
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala)
|
rs747618415
|
|
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys)
|
rs1226708979
|
|
NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter)
|
rs886056775
|
|
NM_001282531.3(ADNP):c.3069_3072del (p.Arg1023fs)
|
rs1279657093
|
|
NM_001283009.2(RTEL1):c.1266+3_1266+80del
|
rs2090574236
|
|
NM_001283009.2(RTEL1):c.2141+5G>A
|
rs398123050
|
|
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu)
|
rs1470145133
|
|
NM_001283009.2(RTEL1):c.396-74A>C
|
rs1555899773
|
|
NM_001283009.2(RTEL1):c.901_919+72del
|
rs1569090870
|
|
NM_001289125.3(IFNAR2):c.157T>C (p.Ser53Pro)
|
rs1987287426
|
|
NM_001291415.2(KDM6A):c.3811T>C (p.Trp1271Arg)
|
rs2045816079
|
|
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys)
|
rs1286857064
|
|
NM_001298.3(CNGA3):c.-37-1G>C
|
rs1553447991
|
|
NM_001298.3(CNGA3):c.1307G>A (p.Arg436Gln)
|
|
|
NM_001298.3(CNGA3):c.827A>G (p.Asn276Ser)
|
rs199474697
|
|
NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys)
|
rs2149071722
|
|
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys)
|
rs2040817364
|
|
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)
|
rs1064795559
|
|
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp)
|
rs368448387
|
|
NM_001318510.2(ACSL4):c.1586G>A (p.Arg529His)
|
rs1569420470
|
|
NM_001318525.2(TRAPPC2L):c.5C>G (p.Ala2Gly)
|
rs751046231
|
|
NM_001318852.2(MAPK8IP3):c.1201G>A (p.Gly401Arg)
|
rs1596711175
|
|
NM_001318852.2(MAPK8IP3):c.1577G>A (p.Arg526Gln)
|
rs1596780112
|
|
NM_001318852.2(MAPK8IP3):c.2985C>G (p.His995Gln)
|
rs1163583945
|
|
NM_001319074.4(RAX2):c.465_475del (p.Ala156fs)
|
rs886041039
|
|
NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)
|
rs1554169984
|
|
NM_001320752.2(STS):c.1114C>T (p.Arg372Trp)
|
rs1064795456
|
|
NM_001320752.2(STS):c.97G>A (p.Gly33Ser)
|
rs2147081459
|
|
NM_001321075.3(DLG4):c.1693C>T (p.His565Tyr)
|
|
|
NM_001321120.2(TBX4):c.749G>A (p.Arg250Gln)
|
rs1555883469
|
|
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val)
|
rs727502788
|
|
NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser)
|
rs1925264314
|
|
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)
|
rs122460158
|
|
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg)
|
rs1602272932
|
|
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val)
|
rs863225066
|
|
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr)
|
rs1555950468
|
|
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu)
|
rs1602232972
|
|
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr)
|
rs1555940536
|
|
NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter)
|
rs199546979
|
|
NM_001330078.2(NRXN1):c.4173_4188delinsGTGTCCCTAA (p.Asp1391_Asp1396delinsGluCysProTer)
|
rs1553400438
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001330260.2(SCN8A):c.2706del (p.Glu903fs)
|
rs2138862858
|
|
NM_001330260.2(SCN8A):c.4115A>G (p.Asn1372Ser)
|
rs2138904379
|
|
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val)
|
rs886041670
|
|
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe)
|
rs1555229496
|
|
NM_001330260.2(SCN8A):c.5620G>C (p.Val1874Leu)
|
rs781602116
|
|
NM_001330288.2(SMARCC2):c.1382+1G>A
|
|
|
NM_001330311.2(DVL1):c.1731del (p.Ser578fs)
|
rs1553172962
|
|
NM_001346754.2(PIGW):c.617_620del (p.Val206fs)
|
rs753385776
|
|
NM_001347721.2(DYRK1A):c.1001A>G (p.Asp334Gly)
|
rs1601280230
|
|
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg)
|
rs797044525
|
|
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
|
|
|
NM_001348716.2(KDM6B):c.4737+1G>A
|
rs2151380267
|
|
NM_001348800.3(ZBTB20):c.1873A>G (p.Met625Val)
|
rs1064795382
|
|
NM_001348800.3(ZBTB20):c.616G>A (p.Asp206Asn)
|
rs779190582
|
|
NM_001349338.3(FOXP1):c.1438G>A (p.Glu480Lys)
|
|
|
NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser)
|
rs1559602593
|
|
NM_001349338.3(FOXP1):c.1652+5G>A
|
rs794727216
|
|
NM_001349338.3(FOXP1):c.511-3C>A
|
rs778983019
|
|
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
|
|
|
NM_001353345.2(SETD1B):c.5392C>T (p.Arg1798Cys)
|
rs2137589027
|
|
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
|
|
|
NM_001354604.2(MITF):c.1072G>A (p.Val358Met)
|
rs1271000541
|
|
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg)
|
rs28999969
|
|
NM_001355436.2(SPTB):c.154C>T (p.Arg52Trp)
|
rs1594796374
|
|
NM_001355436.2(SPTB):c.443G>A (p.Gly148Asp)
|
rs2082929857
|
|
NM_001355436.2(SPTB):c.5898C>T (p.Gly1966=)
|
rs2139488882
|
|
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln)
|
rs1555371769
|
|
NM_001356.5(DDX3X):c.1462C>T (p.Arg488Cys)
|
rs796052234
|
|
NM_001356.5(DDX3X):c.1676T>A (p.Leu559His)
|
rs1064794993
|
|
NM_001356.5(DDX3X):c.788G>A (p.Arg263His)
|
rs867967504
|
|
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del)
|
rs1555953527
|
|
NM_001358921.2(COQ2):c.-30del
|
rs1418018696
|
|
NM_001358921.2(COQ2):c.138dup (p.Ala47fs)
|
rs759310292
|
|
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro)
|
rs1317526744
|
|
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser)
|
rs61757582
|
|
NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly)
|
rs61757582
|
|
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln)
|
rs80338864
|
|
NM_001360.3(DHCR7):c.1348del (p.Arg450fs)
|
rs886042362
|
|
NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His)
|
rs201270451
|
|
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro)
|
rs201150384
|
|
NM_001360.3(DHCR7):c.438T>G (p.Asn146Lys)
|
rs949177
|
|
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg)
|
rs121909764
|
|
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly)
|
rs1406131499
|
|
NM_001360.3(DHCR7):c.808A>G (p.Met270Val)
|
rs1555146021
|
|
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp)
|
rs142808899
|
|
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys)
|
rs367585401
|
|
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)
|
|
|
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
|
|
|
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala)
|
rs202122673
|
|
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile)
|
rs2148332084
|
|
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala)
|
rs199474830
|
|
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr)
|
rs1050829
|
|
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
|
|
|
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
|
|
|
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly)
|
rs2070375134
|
|
NM_001363.5(DKC1):c.191T>G (p.Val64Gly)
|
rs2071739379
|
|
NM_001363.5(DKC1):c.915+10G>A
|
rs1603429509
|
|
NM_001363118.2(SLC52A2):c.-110-1G>A
|
rs1554853682
|
|
NM_001363118.2(SLC52A2):c.1088C>T (p.Pro363Leu)
|
rs797045202
|
|
NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu)
|
rs748793969
|
|
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu)
|
rs181461079
|
|
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys)
|
rs797044911
|
|
NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter)
|
rs886042662
|
|
NM_001365999.1(SZT2):c.4370TCT[1] (p.Phe1458del)
|
rs587777099
|
|
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln)
|
rs1602292076
|
|
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg)
|
rs727503840
|
|
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp)
|
rs587783367
|
|
NM_001367721.1(CASK):c.802T>C (p.Tyr268His)
|
rs137852817
|
|
NM_001369.3(DNAH5):c.11168T>A (p.Leu3723Gln)
|
rs1554033862
|
|
NM_001369.3(DNAH5):c.12779A>T (p.Asp4260Val)
|
rs1744309029
|
|
NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys)
|
rs1320036244
|
|
NM_001369.3(DNAH5):c.7579_7590del (p.Thr2527_Asp2530del)
|
rs1554058577
|
|
NM_001369268.1(ACAN):c.1460C>T (p.Thr487Ile)
|
rs2141585529
|
|
NM_001370259.2(MEN1):c.1185+1G>A
|
rs1941661315
|
|
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del)
|
rs794728661
|
|
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val)
|
rs1114167543
|
|
NM_001370259.2(MEN1):c.654+3A>T
|
rs1064793168
|
|
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro)
|
rs1592647281
|
|
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)
|
rs397514408
|
|
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)
|
rs146600671
|
|
NM_001370658.1(BTD):c.1503del (p.Arg502fs)
|
rs1163419871
|
|
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)
|
rs144717999
|
|
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)
|
rs1249246307
|
|
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)
|
rs750363004
|
|
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)
|
rs397514376
|
|
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
|
|
|
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)
|
rs397514380
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)
|
rs1057520533
|
|
NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr)
|
rs756204684
|
|
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp)
|
rs1043984708
|
|
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys)
|
rs993001712
|
|
NM_001371904.1(APOA5):c.494dup (p.Val166fs)
|
|
|
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs)
|
rs749294057
|
|
NM_001371986.1(UNC80):c.5161C>T (p.Arg1721Cys)
|
rs1266989763
|
|
NM_001371986.1(UNC80):c.9708+1G>A
|
|
|
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg)
|
rs397516891
|
|
NM_001374385.1(ATP8B1):c.3118G>A (p.Gly1040Arg)
|
|
|
NM_001375380.1(EBF3):c.454C>T (p.Arg152Cys)
|
rs2134623972
|
|
NM_001375524.1(TRRAP):c.3140G>A (p.Arg1047His)
|
rs2116495297
|
|
NM_001375524.1(TRRAP):c.5596C>T (p.Arg1866Cys)
|
rs1791432323
|
|
NM_001375524.1(TRRAP):c.5713A>G (p.Lys1905Glu)
|
rs1791437854
|
|
NM_001376.5(DYNC1H1):c.12760G>A (p.Gly4254Arg)
|
|
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564
|
|
NM_001376.5(DYNC1H1):c.1826T>C (p.Ile609Thr)
|
rs2047933165
|
|
NM_001376.5(DYNC1H1):c.2252G>A (p.Arg751Gln)
|
rs2141275001
|
|
NM_001376.5(DYNC1H1):c.4808G>C (p.Arg1603Thr)
|
rs1555409418
|
|
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys)
|
rs1057518961
|
|
NM_001376.5(DYNC1H1):c.7072C>T (p.Arg2358Cys)
|
rs879254019
|
|
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln)
|
rs713993043
|
|
NM_001376.5(DYNC1H1):c.9142G>A (p.Glu3048Lys)
|
rs1555410941
|
|
NM_001377.3(DYNC2H1):c.12581C>T (p.Ser4194Phe)
|
rs886042136
|
|
NM_001377.3(DYNC2H1):c.3847G>C (p.Asp1283His)
|
rs1555050986
|
|
NM_001377.3(DYNC2H1):c.5771A>T (p.Asp1924Val)
|
rs1565368733
|
|
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val)
|
rs963717773
|
|
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp)
|
rs1555057881
|
|
NM_001377142.1(PLCB4):c.1223T>C (p.Phe408Ser)
|
rs2148407785
|
|
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del)
|
rs63750688
|
|
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)
|
rs1553757628
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001378452.1(ITPR1):c.829A>G (p.Ser277Gly)
|
rs1559603629
|
|
NM_001378454.1(ALMS1):c.12462+1del
|
rs750907119
|
|
NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del)
|
rs606231461
|
|
NM_001378477.3(NYX):c.920A>G (p.Asn307Ser)
|
rs62637035
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378615.1(CC2D2A):c.4315-6_4315-3del
|
rs926806639
|
|
NM_001378615.1(CC2D2A):c.4726G>C (p.Asp1576His)
|
rs1064794798
|
|
NM_001378964.1(CDON):c.3395C>T (p.Pro1132Leu)
|
rs754025360
|
|
NM_001378969.1(KCND3):c.1051T>C (p.Phe351Leu)
|
rs1064794895
|
|
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile)
|
rs786205867
|
|
NM_001378969.1(KCND3):c.1489_1490del (p.Leu497fs)
|
rs1664228420
|
|
NM_001378974.1(FBXW11):c.1150C>T (p.Arg384Trp)
|
rs1758081729
|
|
NM_001378974.1(FBXW11):c.856T>C (p.Trp286Arg)
|
rs1758225061
|
|
NM_001379403.1(WDR26):c.1196G>A (p.Arg399Gln)
|
rs1673967254
|
|
NM_001379500.1(COL18A1):c.3620C>T (p.Ser1207Phe)
|
rs1085307837
|
|
NM_001379500.1(COL18A1):c.3847G>T (p.Gly1283Trp)
|
rs1085307935
|
|
NM_001382391.1(CSPP1):c.3330+2T>C
|
|
|
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)
|
rs766020802
|
|
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs)
|
rs766484375
|
|
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro)
|
rs745683775
|
|
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)
|
rs559623184
|
|
NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr)
|
rs149907912
|
|
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)
|
|
|
NM_001393769.1(MED12L):c.3664+2T>G
|
|
|
NM_001395656.1(ROBO2):c.292G>T (p.Gly98Trp)
|
rs2071367863
|
|
NM_001395891.1(CLASP1):c.196-560A>G
|
rs1208611147
|
|
NM_001395891.1(CLASP1):c.196-604C>T
|
rs181195449
|
|
NM_001395891.1(CLASP1):c.196-607G>A
|
rs180755563
|
|
NM_001399.5(EDA):c.707-13T>G
|
rs2147511678
|
|
NM_001399.5(EDA):c.794A>G (p.Asp265Gly)
|
rs727504750
|
|
NM_001399.5(EDA):c.931T>C (p.Tyr311His)
|
rs1085307599
|
|
NM_001429.4(EP300):c.2997+1G>A
|
rs1169505007
|
|
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu)
|
rs1555911573
|
|
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser)
|
rs1210404526
|
|
NM_001451.3(FOXF1):c.322A>G (p.Lys108Glu)
|
rs1969551030
|
|
NM_001457.4(FLNB):c.5375_5377del (p.Glu1792del)
|
rs1470699812
|
|
NM_001458.5(FLNC):c.3193-2A>G
|
rs749889670
|
|
NM_001458.5(FLNC):c.4951+2T>C
|
rs1585164316
|
|
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)
|
rs387906587
|
|
NM_001458.5(FLNC):c.6451G>A (p.Gly2151Ser)
|
rs1563003159
|
|
NM_001482.3(GATM):c.1237C>T (p.Arg413Trp)
|
rs1244824806
|
|
NM_001482.3(GATM):c.553G>C (p.Ala185Pro)
|
rs2140644920
|
|
NM_001540.5(HSPB1):c.438dup (p.Gly147fs)
|
rs747325717
|
|
NM_001556.3(IKBKB):c.512A>G (p.Lys171Arg)
|
rs1064795873
|
|
NM_001563.4(IMPG1):c.1157C>A (p.Ala386Asp)
|
rs144437882
|
|
NM_001605.3(AARS1):c.736C>T (p.Arg246Ter)
|
rs756337758
|
|
NM_001611.5(ACP5):c.772A>C (p.Ser258Arg)
|
|
|
NM_001613.4(ACTA2):c.215C>T (p.Pro72Leu)
|
rs1060500134
|
|
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val)
|
rs397516683
|
|
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn)
|
rs727502878
|
|
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)
|
rs1568060200
|
|
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val)
|
rs782217473
|
|
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)
|
|
|
NM_001614.5(ACTG1):c.998C>G (p.Pro333Arg)
|
|
|
NM_001658.4(ARF1):c.278A>G (p.Asp93Gly)
|
rs2124857932
|
|
NM_001673.5(ASNS):c.1193A>G (p.Tyr398Cys)
|
rs1166271142
|
|
NM_001673.5(ASNS):c.1283A>G (p.Tyr428Cys)
|
rs1791279467
|
|
NM_001673.5(ASNS):c.736C>T (p.Arg246Cys)
|
rs757828751
|
|
NM_001673.5(ASNS):c.753_755del (p.Arg252del)
|
rs752897486
|
|
NM_001692.4(ATP6V1B1):c.367+1G>A
|
rs1343871627
|
|
NM_001723.7(DST):c.22del (p.Tyr8fs)
|
rs775912185
|
|
NM_001735.3(C5):c.957CAA[1] (p.Asn320del)
|
rs772444483
|
|
NM_001739.2(CA5A):c.767_774+13del
|
rs762768981
|
|
NM_001754.5(RUNX1):c.1036dup (p.Arg346fs)
|
rs1601333612
|
|
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys)
|
rs1057519750
|
|
NM_001754.5(RUNX1):c.965C>G (p.Ser322Ter)
|
rs2145906974
|
|
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile)
|
rs587777620
|
|
NM_001770.6(CD19):c.1303+1G>C
|
rs372929312
|
|
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys)
|
rs199984052
|
|
NM_001807.6(CEL):c.337C>T (p.Gln113Ter)
|
rs1200339761
|
|
NM_001830.4(CLCN4):c.2167C>T (p.Arg723Trp)
|
rs1924842665
|
|
NM_001830.4(CLCN4):c.265G>A (p.Asp89Asn)
|
rs1064794385
|
|
NM_001830.4(CLCN4):c.43G>A (p.Asp15Asn)
|
rs879255591
|
|
NM_001830.4(CLCN4):c.944G>A (p.Arg315His)
|
rs1374813094
|
|
NM_001844.5(COL2A1):c.1266+5G>A
|
rs1064794958
|
|
NM_001844.5(COL2A1):c.139T>C (p.Trp47Arg)
|
rs1064793352
|
|
NM_001844.5(COL2A1):c.1996-9G>A
|
rs2136555221
|
|
NM_001844.5(COL2A1):c.3655G>T (p.Asp1219Tyr)
|
rs760093841
|
|
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys)
|
rs141951587
|
|
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg)
|
rs1565664095
|
|
NM_001844.5(COL2A1):c.602G>A (p.Gly201Glu)
|
|
|
NM_001844.5(COL2A1):c.870+5G>A
|
rs794727095
|
|
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)
|
|
|
NM_001845.6(COL4A1):c.3574G>C (p.Gly1192Arg)
|
rs2139156269
|
|
NM_001845.6(COL4A1):c.3905G>C (p.Gly1302Ala)
|
rs1877385413
|
|
NM_001845.6(COL4A1):c.4583C>T (p.Pro1528Leu)
|
rs1085307967
|
|
NM_001845.6(COL4A1):c.607G>A (p.Gly203Arg)
|
rs1057519191
|
|
NM_001845.6(COL4A1):c.823G>A (p.Gly275Arg)
|
|
|
NM_001845.6(COL4A1):c.943C>T (p.Arg315Cys)
|
rs1057517719
|
|
NM_001846.4(COL4A2):c.1287_1339+1dup
|
rs1566539998
|
|
NM_001846.4(COL4A2):c.1759G>A (p.Gly587Ser)
|
|
|
NM_001846.4(COL4A2):c.1898G>A (p.Gly633Asp)
|
rs1057523764
|
|
NM_001846.4(COL4A2):c.2285G>A (p.Gly762Glu)
|
rs1882538642
|
|
NM_001846.4(COL4A2):c.826-1G>T
|
|
|
NM_001848.3(COL6A1):c.1425del (p.Gly476fs)
|
rs878854398
|
|
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg)
|
rs764556767
|
|
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del)
|
rs1085307560
|
|
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp)
|
rs886043351
|
|
NM_001848.3(COL6A1):c.814G>A (p.Gly272Ser)
|
rs398123640
|
|
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg)
|
rs794727059
|
|
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1])
|
rs773493556
|
|
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn)
|
rs786205642
|
|
NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val)
|
rs1085307668
|
|
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)
|
rs794727419
|
|
NM_001849.4(COL6A2):c.2593_2608dup (p.Asp870fs)
|
rs1555877258
|
|
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)
|
rs201854898
|
|
NM_001849.4(COL6A2):c.3058T>C (p.Ter1020Gln)
|
rs886044576
|
|
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn)
|
rs983938730
|
|
NM_001852.4(COL9A2):c.1242del (p.Gly415fs)
|
rs756694568
|
|
NM_001854.4(COL11A1):c.2241+5G>T
|
rs2101800665
|
|
NM_001854.4(COL11A1):c.2522G>T (p.Gly841Val)
|
rs1663311706
|
|
NM_001854.4(COL11A1):c.3276+5G>A
|
rs2101406246
|
|
NM_001854.4(COL11A1):c.3816+5G>A
|
rs1057524237
|
|
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg)
|
rs1672165764
|
|
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp)
|
rs1553511785
|
|
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp)
|
rs772782772
|
|
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys)
|
rs1553516443
|
|
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro)
|
rs398123653
|
|
NM_001876.4(CPT1A):c.1367C>T (p.Ser456Leu)
|
rs1478167106
|
|
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys)
|
rs80356791
|
|
NM_001876.4(CPT1A):c.693+1G>A
|
rs1055176086
|
|
NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu)
|
rs1554085478
|
|
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)
|
rs121913412
|
|
NM_001904.4(CTNNB1):c.1405C>T (p.Arg469Cys)
|
rs2125640126
|
|
NM_001904.4(CTNNB1):c.2138-1G>C
|
rs1057521882
|
|
NM_001904.4(CTNNB1):c.2239_2242dup (p.Tyr748Ter)
|
rs2125653590
|
|
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)
|
rs768389398
|
|
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)
|
rs1217050849
|
|
NM_001918.5(DBT):c.51+1G>C
|
|
|
NM_001927.4(DES):c.1064G>C (p.Arg355Pro)
|
rs61368398
|
|
NM_001927.4(DES):c.1353C>G (p.Ile451Met)
|
rs121913002
|
|
NM_001927.4(DES):c.1358C>T (p.Thr453Ile)
|
rs267607488
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_001927.4(DES):c.1366G>A (p.Gly456Arg)
|
rs397516690
|
|
NM_001927.4(DES):c.380G>C (p.Arg127Pro)
|
rs397516694
|
|
NM_001927.4(DES):c.985C>T (p.Gln329Ter)
|
rs759320891
|
|
NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del)
|
rs1568317152
|
|
NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr)
|
rs797044566
|
|
NM_001942.4(DSG1):c.1684G>A (p.Gly562Arg)
|
rs2071779127
|
|
NM_001943.5(DSG2):c.1109dup (p.Thr371fs)
|
rs1555627118
|
|
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs)
|
rs775256998
|
|
NM_001943.5(DSG2):c.1487dup (p.Cys496fs)
|
rs730880347
|
|
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)
|
rs121913010
|
|
NM_001943.5(DSG2):c.2955del (p.Val986fs)
|
rs1064794709
|
|
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)
|
rs397516706
|
|
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)
|
rs794728093
|
|
NM_001943.5(DSG2):c.875G>T (p.Arg292Leu)
|
rs185821167
|
|
NM_001958.5(EEF1A2):c.1366CAGAAGGCG[1] (p.456QKA[1])
|
rs879255373
|
|
NM_001958.5(EEF1A2):c.374C>A (p.Ala125Glu)
|
rs1057518587
|
|
NM_001972.4(ELANE):c.558C>A (p.Val186=)
|
rs878855317
|
|
NM_001991.5(EZH1):c.2033C>G (p.Ala678Gly)
|
rs2053293877
|
|
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu)
|
rs1751115198
|
|
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys)
|
rs1750918319
|
|
NM_001999.4(FBN2):c.3974-9A>G
|
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln)
|
rs1064797086
|
|
NM_002017.5(FLI1):c.1019G>A (p.Arg340His)
|
rs1131691896
|
|
NM_002017.5(FLI1):c.1028A>G (p.Tyr343Cys)
|
rs1064797084
|
|
NM_002024.6(FMR1):c.1325G>A (p.Arg442Gln)
|
|
|
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn)
|
rs104894808
|
|
NM_002055.5(GFAP):c.1171+472G>A
|
rs748860341
|
|
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln)
|
rs797044569
|
|
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln)
|
rs267607510
|
|
NM_002055.5(GFAP):c.620A>T (p.Glu207Val)
|
rs1555574517
|
|
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser)
|
rs1231842600
|
|
NM_002074.5(GNB1):c.347G>A (p.Gly116Asp)
|
rs1646670079
|
|
NM_002103.5(GYS1):c.1A>C (p.Met1Leu)
|
rs748334413
|
|
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu)
|
rs1576203003
|
|
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr)
|
rs756985703
|
|
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)
|
rs724159994
|
|
NM_002181.4(IHH):c.949G>A (p.Val317Met)
|
rs886044074
|
|
NM_002225.5(IVD):c.457-2A>G
|
rs771914739
|
|
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)
|
rs796051982
|
|
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)
|
rs1221254988
|
|
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
|
NM_002225.5(IVD):c.848A>G (p.Glu283Gly)
|
rs1314850102
|
|
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
|
|
|
NM_002225.5(IVD):c.863C>T (p.Ala288Val)
|
rs886042098
|
|
NM_002230.4(JUP):c.468G>A (p.Pro156=)
|
rs886037753
|
|
NM_002303.6(LEPR):c.2642G>T (p.Cys881Phe)
|
rs992720162
|
|
NM_002317.7(LOX):c.1044T>A (p.Ser348Arg)
|
rs1561417568
|
|
NM_002334.4(LRP4):c.3472C>T (p.Arg1158Trp)
|
rs886048351
|
|
NM_002334.4(LRP4):c.3698A>C (p.Glu1233Ala)
|
rs1940998166
|
|
NM_002335.4(LRP5):c.1732C>T (p.Arg578Trp)
|
|
|
NM_002335.4(LRP5):c.3446T>A (p.Leu1149Gln)
|
rs200389686
|
|
NM_002381.5(MATN3):c.653A>G (p.Tyr218Cys)
|
rs1673092558
|
|
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg)
|
rs34540312
|
|
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn)
|
rs1799660837
|
|
NM_002397.5(MEF2C):c.44G>A (p.Arg15His)
|
rs1202957297
|
|
NM_002430.3(MN1):c.3778G>T (p.Glu1260Ter)
|
rs1933302820
|
|
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter)
|
rs147334255
|
|
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter)
|
rs1601319501
|
|
NM_002435.3(MPI):c.1023del (p.Val342fs)
|
rs1555479441
|
|
NM_002435.3(MPI):c.1054del
|
rs752976348
|
|
NM_002435.3(MPI):c.796G>A (p.Glu266Lys)
|
rs1595822583
|
|
NM_002437.5(MPV17):c.107A>C (p.Gln36Pro)
|
rs762327729
|
|
NM_002437.5(MPV17):c.190C>T (p.Pro64Ser)
|
|
|
NM_002437.5(MPV17):c.275A>C (p.Asp92Ala)
|
rs1057524366
|
|
NM_002439.5(MSH3):c.127G>A (p.Ala43Thr)
|
rs1351260483
|
|
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys)
|
rs121913621
|
|
NM_002470.4(MYH3):c.3568_3576del (p.Val1190_Ala1192del)
|
rs2142395389
|
|
NM_002470.4(MYH3):c.3611T>C (p.Leu1204Pro)
|
rs1057518008
|
|
NM_002470.4(MYH3):c.4522C>T (p.Gln1508Ter)
|
rs779530750
|
|
NM_002471.4(MYH6):c.5050C>T (p.Gln1684Ter)
|
rs1849911056
|
|
NM_002473.6(MYH9):c.257T>A (p.Met86Lys)
|
rs774334908
|
|
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln)
|
rs267606902
|
|
NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro)
|
rs1555554139
|
|
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)
|
rs730880147
|
|
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter)
|
rs1563516254
|
|
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)
|
rs751570713
|
|
NM_002485.5(NBN):c.340G>T (p.Val114Phe)
|
rs771034958
|
|
NM_002499.4(NEO1):c.2935C>G (p.Pro979Ala)
|
rs483352721
|
|
NM_002500.5(NEUROD1):c.616dup (p.His206fs)
|
rs387906384
|
|
NM_002524.5(NRAS):c.268T>C (p.Phe90Leu)
|
rs1393160852
|
|
NM_002529.4(NTRK1):c.1946G>A (p.Arg649Gln)
|
rs786205449
|
|
NM_002591.4(PCK1):c.824del (p.Gly275fs)
|
rs748437548
|
|
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys)
|
rs138008832
|
|
NM_002617.4(PEX10):c.551del (p.Ile184fs)
|
rs1557910202
|
|
NM_002641.4(PIGA):c.1183G>A (p.Glu395Lys)
|
rs1060499666
|
|
NM_002641.4(PIGA):c.145G>A (p.Val49Met)
|
rs1569180100
|
|
NM_002641.4(PIGA):c.242G>A (p.Arg81His)
|
rs1922162801
|
|
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln)
|
rs1555945553
|
|
NM_002641.4(PIGA):c.98A>G (p.His33Arg)
|
rs797044924
|
|
NM_002653.5(PITX1):c.793G>T (p.Gly265Cys)
|
rs141612135
|
|
NM_002667.5(PLN):c.63_64dup (p.Gln22fs)
|
rs794729138
|
|
NM_002691.4(POLD1):c.3185A>G (p.Gln1062Arg)
|
rs2039339156
|
|
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp)
|
rs371334941
|
|
NM_002693.3(POLG):c.1862G>A (p.Gly621Asp)
|
rs1567190247
|
|
NM_002693.3(POLG):c.2265+1G>A
|
|
|
NM_002693.3(POLG):c.2287G>C (p.Gly763Arg)
|
rs1567187837
|
|
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr)
|
rs1003442806
|
|
NM_002693.3(POLG):c.2437GTG[1] (p.Val814del)
|
rs1596353095
|
|
NM_002693.3(POLG):c.2591A>T (p.Asn864Ile)
|
rs121918050
|
|
NM_002693.3(POLG):c.264C>G (p.Phe88Leu)
|
rs144439703
|
|
NM_002693.3(POLG):c.2854G>A (p.Gly952Ser)
|
rs531744363
|
|
NM_002693.3(POLG):c.2862C>G (p.Ile954Met)
|
rs2152060967
|
|
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)
|
rs121918049
|
|
NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly)
|
rs1567185468
|
|
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup)
|
rs1064794213
|
|
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg)
|
rs796052913
|
|
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn)
|
rs1085307741
|
|
NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala)
|
rs772737979
|
|
NM_002693.3(POLG):c.824G>A (p.Arg275Gln)
|
rs1555453950
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
NM_002709.3(PPP1CB):c.104G>A (p.Arg35Gln)
|
|
|
NM_002709.3(PPP1CB):c.820G>A (p.Glu274Lys)
|
rs886037955
|
|
NM_002739.5(PRKCG):c.1764+1G>A
|
rs1406338491
|
|
NM_002739.5(PRKCG):c.347A>G (p.His116Arg)
|
rs2068657131
|
|
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp)
|
rs1471641294
|
|
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln)
|
rs397516790
|
|
NM_002764.4(PRPS1):c.395C>T (p.Ser132Phe)
|
rs1925561449
|
|
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile)
|
rs193922655
|
|
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg)
|
rs193922656
|
|
NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser)
|
rs397507440
|
|
NM_002772.3(TMPRSS15):c.533-2A>G
|
|
|
NM_002775.5(HTRA1):c.523G>C (p.Val175Leu)
|
|
|
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly)
|
rs397509344
|
|
NM_002834.5(PTPN11):c.1402A>G (p.Thr468Ala)
|
rs397507537
|
|
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile)
|
rs397507503
|
|
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)
|
rs397507511
|
|
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)
|
rs121918465
|
|
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)
|
rs397507519
|
|
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del)
|
rs397507524
|
|
NM_002834.5(PTPN11):c.782T>G (p.Leu261Arg)
|
rs765642157
|
|
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)
|
rs397507531
|
|
NM_002860.4(ALDH18A1):c.232G>A (p.Gly78Ser)
|
|
|
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr)
|
rs1057519413
|
|
NM_002878.4(RAD51D):c.1A>G (p.Met1Val)
|
rs561425038
|
|
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu)
|
rs561425038
|
|
NM_002878.4(RAD51D):c.263+1G>A
|
rs1555570242
|
|
NM_002878.4(RAD51D):c.264-1G>A
|
rs2091622013
|
|
NM_002878.4(RAD51D):c.2dup (p.Met1fs)
|
rs772306012
|
|
NM_002878.4(RAD51D):c.480+1G>A
|
rs1597862471
|
|
NM_002878.4(RAD51D):c.620C>G (p.Ser207Trp)
|
rs370228071
|
|
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu)
|
rs730880382
|
|
NM_002880.4(RAF1):c.1850A>T (p.Asn617Ile)
|
|
|
NM_002880.4(RAF1):c.1871C>G (p.Ser624Cys)
|
rs1057524239
|
|
NM_002880.4(RAF1):c.1880G>C (p.Arg627Pro)
|
|
|
NM_002880.4(RAF1):c.388T>A (p.Phe130Ile)
|
rs397516821
|
|
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly)
|
rs397516825
|
|
NM_002890.3(RASA1):c.2708G>A (p.Arg903Gln)
|
rs2112509032
|
|
NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs)
|
rs1554051094
|
|
NM_002894.3(RBBP8):c.2515C>T (p.Arg839Ter)
|
rs1064796899
|
|
NM_002907.4(RECQL):c.132_135del (p.Lys44_Lys45insTer)
|
rs775055596
|
|
NM_002907.4(RECQL):c.1461_1462del (p.Asn488fs)
|
|
|
NM_002907.4(RECQL):c.493_497del (p.Ser164_Ser165insTer)
|
rs1565570957
|
|
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter)
|
rs1597229404
|
|
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn)
|
rs690016543
|
|
NM_002972.4(SBF1):c.5382_5383del (p.Tyr1795fs)
|
rs1603430221
|
|
NM_002972.4(SBF1):c.5394_5395del (p.Ala1799fs)
|
rs1234122324
|
|
NM_002972.4(SBF1):c.897+1G>A
|
rs374026247
|
|
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)
|
rs876658477
|
|
NM_003002.4(SDHD):c.436G>C (p.Asp146His)
|
|
|
NM_003036.4(SKI):c.104C>G (p.Pro35Arg)
|
rs397514589
|
|
NM_003036.4(SKI):c.352G>A (p.Glu118Lys)
|
rs869025525
|
|
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg)
|
rs1064795099
|
|
NM_003042.4(SLC6A1):c.187G>A (p.Gly63Ser)
|
rs1057523845
|
|
NM_003049.4(SLC10A1):c.34_38del (p.Phe12fs)
|
rs747530550
|
|
NM_003049.4(SLC10A1):c.754C>A (p.Arg252Ser)
|
rs141269120
|
|
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del)
|
rs876661296
|
|
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)
|
rs767337086
|
|
NM_003060.4(SLC22A5):c.1064C>T (p.Ser355Leu)
|
|
|
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu)
|
rs886042092
|
|
NM_003060.4(SLC22A5):c.1138G>A (p.Ala380Thr)
|
|
|
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)
|
rs267607053
|
|
NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys)
|
rs1183338050
|
|
NM_003060.4(SLC22A5):c.1595_1604dup (p.Pro536fs)
|
rs796052040
|
|
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)
|
rs72552726
|
|
NM_003060.4(SLC22A5):c.44G>A (p.Gly15Glu)
|
rs751129547
|
|
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu)
|
rs1437174685
|
|
NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser)
|
rs1319889867
|
|
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)
|
rs72552723
|
|
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)
|
rs386134199
|
|
NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)
|
|
|
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val)
|
rs72552728
|
|
NM_003060.4(SLC22A5):c.902C>G (p.Ala301Gly)
|
|
|
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu)
|
rs1554623112
|
|
NM_003070.5(SMARCA2):c.3314G>T (p.Arg1105Leu)
|
rs281875197
|
|
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)
|
rs2086534839
|
|
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val)
|
rs2146416371
|
|
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met)
|
rs1600278307
|
|
NM_003072.5(SMARCA4):c.2716C>T (p.Arg906Cys)
|
rs898406635
|
|
NM_003072.5(SMARCA4):c.2777A>G (p.Asn926Ser)
|
rs1555778797
|
|
NM_003072.5(SMARCA4):c.2896C>T (p.Arg966Trp)
|
rs1227826852
|
|
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val)
|
rs1600388982
|
|
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His)
|
rs770680174
|
|
NM_003072.5(SMARCA4):c.3986G>A (p.Arg1329His)
|
rs1555785361
|
|
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn)
|
rs1568963037
|
|
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His)
|
rs398122368
|
|
NM_003073.5(SMARCB1):c.1142C>G (p.Thr381Arg)
|
rs1387467529
|
|
NM_003073.5(SMARCB1):c.80T>G (p.Met27Arg)
|
rs763994045
|
|
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val)
|
rs267607072
|
|
NM_003076.5(SMARCD1):c.494G>A (p.Arg165Gln)
|
|
|
NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys)
|
rs786205426
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003106.4(SOX2):c.389G>C (p.Gly130Ala)
|
rs121918652
|
|
NM_003107.3(SOX4):c.182G>A (p.Arg61Gln)
|
rs1763098947
|
|
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
|
|
|
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)
|
rs368373840
|
|
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp)
|
rs151249432
|
|
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg)
|
rs368541637
|
|
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)
|
rs864622507
|
|
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile)
|
rs758702550
|
|
NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp)
|
rs2152412388
|
|
NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)
|
|
|
NM_003119.4(SPG7):c.69G>A (p.Trp23Ter)
|
|
|
NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro)
|
rs567686069
|
|
NM_003126.4(SPTA1):c.1406_1408del (p.His469del)
|
rs775280006
|
|
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)
|
rs41273519
|
|
NM_003128.3(SPTBN1):c.3007C>T (p.Arg1003Trp)
|
rs2103938644
|
|
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup)
|
rs782488388
|
|
NM_003235.5(TG):c.3847+1G>C
|
|
|
NM_003238.6(TGFB2):c.458G>A (p.Arg153His)
|
rs1057518684
|
|
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp)
|
rs199660234
|
|
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser)
|
rs193922660
|
|
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn)
|
rs2125436704
|
|
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr)
|
|
|
NM_003242.6(TGFBR2):c.1275G>A (p.Met425Ile)
|
|
|
NM_003242.6(TGFBR2):c.1525-1G>A
|
rs1699706945
|
|
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val)
|
rs863223853
|
|
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val)
|
rs727503476
|
|
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr)
|
rs727503477
|
|
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys)
|
rs863223856
|
|
NM_003280.3(TNNC1):c.161C>A (p.Pro54His)
|
rs876661393
|
|
NM_003322.6(TULP1):c.961T>G (p.Tyr321Asp)
|
rs794726991
|
|
NM_003332.4(TYROBP):c.151_152insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC (p.Asp50_Leu51insProAlaAspGlyArgLeuValLeuGlyAspArgAspGlyArg)
|
rs762708303
|
|
NM_003358.3(UGCG):c.142dup (p.Ser48fs)
|
rs2118539976
|
|
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu)
|
rs780475918
|
|
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro)
|
rs1567311288
|
|
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro)
|
rs1228791562
|
|
NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys)
|
rs1064796542
|
|
NM_003361.4(UMOD):c.628G>A (p.Gly210Ser)
|
rs1567309965
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe)
|
rs2051315439
|
|
NM_003412.4(ZIC1):c.1092C>A (p.Cys364Ter)
|
rs1064794698
|
|
NM_003470.3(USP7):c.3043G>A (p.Glu1015Lys)
|
|
|
NM_003470.3(USP7):c.841A>G (p.Lys281Glu)
|
rs2141203936
|
|
NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr)
|
rs1943100257
|
|
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys)
|
rs1555185875
|
|
NM_003482.4(KMT2D):c.15544G>C (p.Gly5182Arg)
|
rs1942591901
|
|
NM_003482.4(KMT2D):c.15565G>A (p.Gly5189Arg)
|
rs1555185701
|
|
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del)
|
rs587783704
|
|
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln)
|
rs200088180
|
|
NM_003482.4(KMT2D):c.4421G>A (p.Cys1474Tyr)
|
rs587783718
|
|
NM_003482.4(KMT2D):c.838A>G (p.Arg280Gly)
|
rs1555198244
|
|
NM_003491.4(NAA10):c.10C>G (p.Arg4Gly)
|
rs2148537151
|
|
NM_003491.4(NAA10):c.347G>A (p.Arg116Gln)
|
rs2065169655
|
|
NM_003491.4(NAA10):c.455_458del (p.Thr152fs)
|
rs2148534324
|
|
NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys)
|
rs786205672
|
|
NM_003545.4(H4C5):c.136C>T (p.Arg46Cys)
|
rs950721550
|
|
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn)
|
rs1555988382
|
|
NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)
|
|
|
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu)
|
rs1451486649
|
|
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)
|
rs387906863
|
|
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu)
|
rs776753796
|
|
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser)
|
rs745643715
|
|
NM_003590.5(CUL3):c.2281C>T (p.Arg761Cys)
|
|
|
NM_003619.4(PRSS12):c.1413_1416dup (p.His473fs)
|
rs752784904
|
|
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro)
|
rs779027563
|
|
NM_003665.4(FCN3):c.349del (p.Leu117fs)
|
rs532781899
|
|
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser)
|
rs397516863
|
|
NM_003673.4(TCAP):c.472C>T (p.Arg158Cys)
|
rs397516863
|
|
NM_003676.4(DEGS1):c.395A>G (p.His132Arg)
|
rs1558209997
|
|
NM_003676.4(DEGS1):c.565A>G (p.Asn189Asp)
|
rs771864122
|
|
NM_003709.4(KLF7):c.410C>T (p.Thr137Met)
|
rs1276619385
|
|
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn)
|
rs1057518995
|
|
NM_003718.5(CDK13):c.2251C>T (p.Arg751Ter)
|
rs1295790880
|
|
NM_003718.5(CDK13):c.2578C>T (p.Arg860Ter)
|
rs775898119
|
|
NM_003718.5(CDK13):c.2611A>G (p.Thr871Ala)
|
rs2150526768
|
|
NM_003718.5(CDK13):c.2668C>T (p.Arg890Ter)
|
|
|
NM_003718.5(CDK13):c.484dup (p.Ala162fs)
|
rs1405252481
|
|
NM_003721.4(RFXANK):c.713-1G>A
|
rs2060720733
|
|
NM_003722.5(TP63):c.1655T>G (p.Phe552Cys)
|
rs886039443
|
|
NM_003722.5(TP63):c.566C>T (p.Ser189Leu)
|
rs866938979
|
|
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)
|
rs56126236
|
|
NM_003742.4(ABCB11):c.1444G>A (p.Asp482Asn)
|
rs1558897179
|
|
NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser)
|
rs886043807
|
|
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
|
|
|
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)
|
rs867525294
|
|
NM_003742.4(ABCB11):c.236T>A (p.Val79Glu)
|
rs886044603
|
|
NM_003742.4(ABCB11):c.409G>A (p.Glu137Lys)
|
rs1026511416
|
|
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)
|
rs1382100120
|
|
NM_003748.4(ALDH4A1):c.1505G>A (p.Gly502Asp)
|
|
|
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
|
|
|
NM_003748.4(ALDH4A1):c.866+1G>A
|
rs78532707
|
|
NM_003791.4(MBTPS1):c.2831+5G>T
|
|
|
NM_003849.4(SUCLG1):c.719T>G (p.Leu240Arg)
|
|
|
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val)
|
rs1011464708
|
|
NM_003859.3(DPM1):c.439C>T (p.Arg147Cys)
|
rs1225648834
|
|
NM_003865.3(HESX1):c.3G>A (p.Met1Ile)
|
rs2107566038
|
|
NM_003923.3(FOXH1):c.232A>G (p.Lys78Glu)
|
rs143221196
|
|
NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys)
|
rs1560466246
|
|
NM_003977.4(AIP):c.645+2T>C
|
rs1293512916
|
|
NM_003982.4(SLC7A7):c.1013G>A (p.Gly338Asp)
|
rs386833795
|
|
NM_003982.4(SLC7A7):c.1273T>C (p.Cys425Arg)
|
rs386833802
|
|
NM_003998.4(NFKB1):c.1210+1G>A
|
rs2149203552
|
|
NM_004004.6(GJB2):c.128T>C (p.Val43Ala)
|
|
|
NM_004004.6(GJB2):c.161A>G (p.Asn54Ser)
|
rs2137308512
|
|
NM_004004.6(GJB2):c.187G>A (p.Val63Met)
|
rs370696868
|
|
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)
|
rs1291519904
|
|
NM_004004.6(GJB2):c.284T>C (p.Val95Ala)
|
rs1250849257
|
|
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
|
rs111033196
|
|
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala)
|
rs779018464
|
|
NM_004004.6(GJB2):c.532G>T (p.Val178Leu)
|
rs1275901105
|
|
NM_004006.3(DMD):c.170T>G (p.Leu57Arg)
|
rs886044431
|
|
NM_004006.3(DMD):c.3922-3C>T
|
rs786205603
|
|
NM_004006.3(DMD):c.649G>A (p.Asp217Asn)
|
rs2077187880
|
|
NM_004006.3(DMD):c.9649+2dup
|
rs1602695597
|
|
NM_004006.3(DMD):c.9937T>G (p.Cys3313Gly)
|
|
|
NM_004040.4(RHOB):c.218C>T (p.Ser73Phe)
|
rs550750241
|
|
NM_004046.6(ATP5F1A):c.1037C>T (p.Ser346Phe)
|
rs2144178477
|
|
NM_004069.6(AP2S1):c.28C>T (p.Arg10Trp)
|
rs1064795235
|
|
NM_004082.5(DCTN1):c.279+1G>T
|
rs1393363759
|
|
NM_004092.4(ECHS1):c.412G>A (p.Ala138Thr)
|
|
|
NM_004092.4(ECHS1):c.836T>C (p.Phe279Ser)
|
rs1554885535
|
|
NM_004183.4(BEST1):c.33T>G (p.Asn11Lys)
|
rs281865531
|
|
NM_004183.4(BEST1):c.424_426dup (p.Ser142dup)
|
rs1591284563
|
|
NM_004183.4(BEST1):c.568A>T (p.Asn190Tyr)
|
|
|
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)
|
rs727503824
|
|
NM_004187.5(KDM5C):c.2138C>T (p.Thr713Met)
|
rs1064794733
|
|
NM_004208.4(AIFM1):c.1006G>A (p.Glu336Lys)
|
rs1603223158
|
|
NM_004208.4(AIFM1):c.1020G>T (p.Met340Ile)
|
|
|
NM_004208.4(AIFM1):c.1208A>T (p.Asn403Ile)
|
|
|
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu)
|
rs2030801584
|
|
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys)
|
rs886703882
|
|
NM_004247.4(EFTUD2):c.2562-2_2562-1del
|
rs2050474390
|
|
NM_004247.4(EFTUD2):c.2627C>T (p.Pro876Leu)
|
rs2145431518
|
|
NM_004273.5(CHST3):c.430G>A (p.Gly144Ser)
|
rs1360950889
|
|
NM_004273.5(CHST3):c.688G>A (p.Glu230Lys)
|
rs774599785
|
|
NM_004281.4(BAG3):c.1630G>C (p.Asp544His)
|
rs786205466
|
|
NM_004287.5(GOSR2):c.22dup (p.Thr8fs)
|
rs746855352
|
|
NM_004320.6(ATP2A1):c.2284C>T (p.Arg762Cys)
|
rs758893778
|
|
NM_004329.3(BMPR1A):c.1217G>T (p.Arg406Leu)
|
rs587780107
|
|
NM_004329.3(BMPR1A):c.1328G>A (p.Arg443His)
|
rs876659155
|
|
NM_004329.3(BMPR1A):c.1330T>C (p.Cys444Arg)
|
rs774061725
|
|
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr)
|
rs199476089
|
|
NM_004329.3(BMPR1A):c.1508G>A (p.Cys503Tyr)
|
rs869312790
|
|
NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile)
|
rs1064793490
|
|
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys)
|
rs587782494
|
|
NM_004329.3(BMPR1A):c.869-9A>G
|
rs2133588734
|
|
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr)
|
rs121913370
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg)
|
rs397516905
|
|
NM_004333.6(BRAF):c.826G>C (p.Val276Leu)
|
rs1057518105
|
|
NM_004360.5(CDH1):c.1198G>A (p.Asp400Asn)
|
rs1960893142
|
|
NM_004360.5(CDH1):c.1320+1G>A
|
|
|
NM_004360.5(CDH1):c.2100del (p.Val701fs)
|
rs1555517136
|
|
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp)
|
rs776975632
|
|
NM_004360.5(CDH1):c.2276G>C (p.Gly759Ala)
|
rs945866627
|
|
NM_004360.5(CDH1):c.2296-3A>G
|
rs113067020
|
|
NM_004360.5(CDH1):c.2439+5_2439+8del
|
rs587782810
|
|
NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup)
|
rs746430067
|
|
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys)
|
rs760446904
|
|
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn)
|
rs1574975196
|
|
NM_004370.6(COL12A1):c.334+1G>A
|
|
|
NM_004370.6(COL12A1):c.6067+1G>A
|
rs1766265062
|
|
NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter)
|
rs371399251
|
|
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys)
|
rs587783481
|
|
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)
|
rs1596839714
|
|
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)
|
rs1555471931
|
|
NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser)
|
rs1064794963
|
|
NM_004380.3(CREBBP):c.712G>A (p.Val238Met)
|
rs146887252
|
|
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs)
|
rs774763657
|
|
NM_004415.4(DSP):c.8208dup (p.Val2737fs)
|
rs1581825892
|
|
NM_004415.4(DSP):c.868G>A (p.Glu290Lys)
|
rs397516974
|
|
NM_004429.5(EFNB1):c.365T>C (p.Met122Thr)
|
rs1556106318
|
|
NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp)
|
rs769965440
|
|
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala)
|
rs754418186
|
|
NM_004453.4(ETFDH):c.1116+2T>C
|
rs1561247874
|
|
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)
|
rs1561251388
|
|
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)
|
rs534388496
|
|
NM_004453.4(ETFDH):c.405+3A>G
|
rs796051965
|
|
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)
|
rs549150456
|
|
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val)
|
rs369912835
|
|
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro)
|
rs1482632936
|
|
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)
|
rs1450977775
|
|
NM_004463.3(FGD1):c.1556G>A (p.Arg519His)
|
rs398124157
|
|
NM_004463.3(FGD1):c.1564C>T (p.Arg522Cys)
|
rs398124159
|
|
NM_004463.3(FGD1):c.1565G>A (p.Arg522His)
|
rs137853264
|
|
NM_004519.4(KCNQ3):c.956A>G (p.Tyr319Cys)
|
rs1554627218
|
|
NM_004523.4(KIF11):c.1834T>C (p.Ser612Pro)
|
rs1844763810
|
|
NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys)
|
rs387906642
|
|
NM_004544.4(NDUFA10):c.604dup (p.His202fs)
|
rs746019378
|
|
NM_004544.4(NDUFA10):c.76-2A>G
|
rs917371150
|
|
NM_004563.4(PCK2):c.509C>T (p.Pro170Leu)
|
|
|
NM_004586.3(RPS6KA3):c.1603-5A>G
|
rs1569194162
|
|
NM_004606.5(TAF1):c.3648A>G (p.Gln1216=)
|
rs2034990430
|
|
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp)
|
rs864321629
|
|
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe)
|
rs863223812
|
|
NM_004612.4(TGFBR1):c.733G>A (p.Glu245Lys)
|
rs1057524497
|
|
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys)
|
rs1588585570
|
|
NM_004614.5(TK2):c.415G>T (p.Ala139Ser)
|
rs138479499
|
|
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp)
|
rs869025541
|
|
NM_004628.5(XPC):c.2194dup (p.Leu732fs)
|
rs1309116467
|
|
NM_004646.4(NPHS1):c.-489GA[7]
|
rs139954720
|
|
NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr)
|
|
|
NM_004646.4(NPHS1):c.2072-6C>G
|
rs200253809
|
|
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys)
|
rs778951863
|
|
NM_004646.4(NPHS1):c.2928-3del
|
|
|
NM_004646.4(NPHS1):c.3286+5G>A
|
rs1555759089
|
|
NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys)
|
rs143092783
|
|
NM_004646.4(NPHS1):c.3555_3574del (p.Ser1186fs)
|
rs767832658
|
|
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs)
|
rs1186290245
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro)
|
rs373835033
|
|
NM_004656.4(BAP1):c.1891-1G>A
|
rs1705011794
|
|
NM_004656.4(BAP1):c.422A>G (p.His141Arg)
|
rs1705201896
|
|
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp)
|
rs910211860
|
|
NM_004656.4(BAP1):c.659+3A>C
|
rs878854741
|
|
NM_004700.4(KCNQ4):c.1012C>T (p.Arg338Trp)
|
rs2148320413
|
|
NM_004700.4(KCNQ4):c.839C>A (p.Thr280Lys)
|
rs2148319965
|
|
NM_004700.4(KCNQ4):c.860G>T (p.Gly287Val)
|
rs2148320011
|
|
NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu)
|
rs760907496
|
|
NM_004722.4(AP4M1):c.544-8_544-3del
|
rs1064794383
|
|
NM_004782.4(SNAP29):c.354dup (p.Leu119fs)
|
rs751575036
|
|
NM_004813.4(PEX16):c.956_958del (p.Pro319del)
|
rs754790425
|
|
NM_004817.4(TJP2):c.1202A>G (p.Glu401Gly)
|
rs1057515614
|
|
NM_004817.4(TJP2):c.1444del (p.Asp482fs)
|
rs727503479
|
|
NM_004818.3(DDX23):c.1886T>G (p.Ile629Ser)
|
rs1938405472
|
|
NM_004818.3(DDX23):c.2264C>T (p.Thr755Met)
|
rs1938372282
|
|
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs)
|
rs776075679
|
|
NM_004820.5(CYP7B1):c.1A>G (p.Met1Val)
|
rs891749853
|
|
NM_004859.4(CLTC):c.2325_2327del (p.Ile776del)
|
rs1598233581
|
|
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
|
|
|
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser)
|
rs749643952
|
|
NM_004928.3(CFAP410):c.143+3A>T
|
|
|
NM_004928.3(CFAP410):c.96+4del
|
rs1268187387
|
|
NM_004937.3(CTNS):c.225+5_225+8del
|
rs1555561048
|
|
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys)
|
rs777367316
|
|
NM_004949.5(DSC2):c.1234dup (p.Thr412fs)
|
rs397517390
|
|
NM_004958.4(MTOR):c.4444C>T (p.Arg1482Cys)
|
rs1031980569
|
|
NM_004958.4(MTOR):c.5911G>A (p.Ala1971Thr)
|
rs1057524049
|
|
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)
|
rs959316981
|
|
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg)
|
rs1601071839
|
|
NM_004975.4(KCNB1):c.841G>A (p.Glu281Lys)
|
rs1601071708
|
|
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)
|
rs1984264748
|
|
NM_004975.4(KCNB1):c.917G>A (p.Arg306His)
|
rs1984262011
|
|
NM_004977.3(KCNC3):c.1196C>T (p.Ser399Leu)
|
rs1437049667
|
|
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)
|
rs747618525
|
|
NM_004984.4(KIF5A):c.698T>C (p.Leu233Pro)
|
rs1594915468
|
|
NM_004984.4(KIF5A):c.968G>A (p.Arg323Gln)
|
rs2140163000
|
|
NM_004999.4(MYO6):c.3137+1G>A
|
rs200713129
|
|
NM_004999.4(MYO6):c.3610C>T (p.Arg1204Trp)
|
rs876657911
|
|
NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu)
|
rs35263902
|
|
NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly)
|
rs1557669079
|
|
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val)
|
rs752600100
|
|
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)
|
rs1379395211
|
|
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
|
|
|
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)
|
rs1569482153
|
|
NM_005138.3(SCO2):c.244_246del (p.Lys82del)
|
rs757005556
|
|
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser)
|
rs397517059
|
|
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile)
|
rs727504308
|
|
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)
|
|
|
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr)
|
rs1555418793
|
|
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu)
|
rs727504323
|
|
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val)
|
rs730880404
|
|
NM_005188.4(CBL):c.1222T>C (p.Trp408Arg)
|
rs755557498
|
|
NM_005188.4(CBL):c.2107C>G (p.Pro703Ala)
|
rs1229733932
|
|
NM_005199.5(CHRNG):c.351-9T>C
|
rs764382582
|
|
NM_005214.5(CTLA4):c.118G>A (p.Val40Met)
|
rs1553657378
|
|
NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr)
|
rs1553657387
|
|
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)
|
rs1553657429
|
|
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys)
|
rs1581573923
|
|
NM_005236.3(ERCC4):c.580_584+1del
|
rs776329282
|
|
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val)
|
rs1555321308
|
|
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr)
|
rs1881803464
|
|
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys)
|
rs786205012
|
|
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe)
|
rs1555321334
|
|
NM_005249.5(FOXG1):c.824G>C (p.Arg275Pro)
|
rs1555321361
|
|
NM_005262.3(GFER):c.199del (p.Arg67fs)
|
rs863224028
|
|
NM_005267.5(GJA8):c.565C>T (p.Pro189Ser)
|
rs2149015924
|
|
NM_005276.4(GPD1):c.361G>A (p.Gly121Arg)
|
rs35428353
|
|
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr)
|
rs727503093
|
|
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile)
|
rs1568211172
|
|
NM_005422.4(TECTA):c.5692T>C (p.Cys1898Arg)
|
rs1591464207
|
|
NM_005422.4(TECTA):c.6016G>A (p.Asp2006Asn)
|
rs2134215546
|
|
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs)
|
rs763401560
|
|
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer)
|
rs746142129
|
|
NM_005431.2(XRCC2):c.96del (p.Phe32fs)
|
rs730882048
|
|
NM_005445.4(SMC3):c.181C>T (p.Arg61Trp)
|
rs866273473
|
|
NM_005450.6(NOG):c.125C>T (p.Pro42Leu)
|
rs1018505000
|
|
NM_005465.7(AKT3):c.1330A>G (p.Ile444Val)
|
rs1574509510
|
|
NM_005465.7(AKT3):c.803T>C (p.Val268Ala)
|
rs1674673024
|
|
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys)
|
rs986773986
|
|
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)
|
rs387906347
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005476.7(GNE):c.211A>T (p.Arg71Trp)
|
rs886044539
|
|
NM_005476.7(GNE):c.910G>A (p.Gly304Arg)
|
rs755743750
|
|
NM_005477.3(HCN4):c.1590G>C (p.Lys530Asn)
|
rs1555475961
|
|
NM_005515.4(MNX1):c.832C>T (p.Leu278Phe)
|
rs370066878
|
|
NM_005515.4(MNX1):c.885A>C (p.Lys295Asn)
|
rs1064794653
|
|
NM_005518.4(HMGCS2):c.334C>T (p.Arg112Trp)
|
|
|
NM_005548.3(KARS1):c.1486T>C (p.Cys496Arg)
|
rs776736207
|
|
NM_005585.5(SMAD6):c.124C>T (p.Arg42Ter)
|
rs1447391811
|
|
NM_005585.5(SMAD6):c.511G>T (p.Glu171Ter)
|
rs1893037722
|
|
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter)
|
rs760571406
|
|
NM_005585.5(SMAD6):c.706C>T (p.Gln236Ter)
|
|
|
NM_005585.5(SMAD6):c.817G>T (p.Glu273Ter)
|
rs1259557323
|
|
NM_005591.4(MRE11):c.21-6_26del
|
rs587780138
|
|
NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser)
|
rs1057518966
|
|
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr)
|
rs954192338
|
|
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val)
|
rs1465752595
|
|
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)
|
|
|
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)
|
rs119103256
|
|
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)
|
|
|
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)
|
rs367990192
|
|
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
|
|
|
NM_005619.5(RTN2):c.938dup (p.Thr314fs)
|
rs748397131
|
|
NM_005629.4(SLC6A8):c.191_193del (p.Ser64del)
|
rs2091437670
|
|
NM_005633.4(SOS1):c.1646C>A (p.Thr549Lys)
|
rs730881046
|
|
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys)
|
rs1553353452
|
|
NM_005633.4(SOS1):c.323A>G (p.Glu108Gly)
|
rs886041923
|
|
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys)
|
rs2149946003
|
|
NM_005677.4(COLQ):c.1162G>A (p.Asp388Asn)
|
rs1008156537
|
|
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter)
|
rs143766249
|
|
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys)
|
rs767956337
|
|
NM_005732.4(RAD50):c.3753-5T>A
|
rs1581024884
|
|
NM_005732.4(RAD50):c.3763del (p.Ser1255fs)
|
rs760621534
|
|
NM_005732.4(RAD50):c.3799dup (p.Ile1267fs)
|
rs1554101324
|
|
NM_005732.4(RAD50):c.3806_3807del (p.His1269fs)
|
rs1085307088
|
|
NM_005857.5(ZMPSTE24):c.951_954+2del
|
rs747563189
|
|
NM_005859.5(PURA):c.305T>C (p.Leu102Pro)
|
rs793888531
|
|
NM_005859.5(PURA):c.486C>G (p.Asn162Lys)
|
rs1085307826
|
|
NM_005859.5(PURA):c.493G>A (p.Gly165Ser)
|
rs1561793272
|
|
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)
|
rs779647632
|
|
NM_005861.4(STUB1):c.824del (p.Leu275fs)
|
rs2039704654
|
|
NM_005861.4(STUB1):c.832del (p.Glu278fs)
|
rs1555475529
|
|
NM_005862.3(STAG1):c.659A>G (p.His220Arg)
|
rs1057519153
|
|
NM_005901.6(SMAD2):c.358C>T (p.Arg120Ter)
|
|
|
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys)
|
rs886039177
|
|
NM_005902.4(SMAD3):c.110_115del (p.Ser37_Val39delinsIle)
|
rs863223769
|
|
NM_005902.4(SMAD3):c.1187T>A (p.Ile396Asn)
|
rs1595965957
|
|
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln)
|
rs1566991387
|
|
NM_005902.4(SMAD3):c.269G>A (p.Arg90His)
|
rs886038803
|
|
NM_005902.4(SMAD3):c.346AAG[1] (p.Lys117del)
|
rs2140294164
|
|
NM_005902.4(SMAD3):c.371C>T (p.Pro124Leu)
|
rs886039050
|
|
NM_005902.4(SMAD3):c.533-1G>A
|
rs1350129614
|
|
NM_005902.4(SMAD3):c.607+1G>T
|
rs1060500771
|
|
NM_005909.5(MAP1B):c.4967A>C (p.Gln1656Pro)
|
|
|
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile)
|
rs1555691402
|
|
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del)
|
rs1297161027
|
|
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr)
|
rs1056919085
|
|
NM_005989.4(AKR1D1):c.940T>C (p.Trp314Arg)
|
rs1315777461
|
|
NM_005993.5(TBCD):c.1126G>A (p.Val376Met)
|
rs183349235
|
|
NM_005993.5(TBCD):c.1739G>A (p.Arg580Gln)
|
rs780523169
|
|
NM_006005.3(WFS1):c.1046TCT[1] (p.Phe350del)
|
rs1560418164
|
|
NM_006005.3(WFS1):c.1289C>T (p.Ser430Leu)
|
rs1235562712
|
|
NM_006005.3(WFS1):c.1511C>G (p.Pro504Arg)
|
rs28937892
|
|
NM_006005.3(WFS1):c.1922C>A (p.Thr641Lys)
|
rs376626985
|
|
NM_006005.3(WFS1):c.2061G>C (p.Gln687His)
|
rs760938537
|
|
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met)
|
rs28937894
|
|
NM_006005.3(WFS1):c.2311G>T (p.Asp771Tyr)
|
|
|
NM_006005.3(WFS1):c.529C>T (p.Arg177Cys)
|
rs760631912
|
|
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del)
|
rs752461187
|
|
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer)
|
rs863224264
|
|
NM_006009.4(TUBA1A):c.188C>T (p.Pro63Leu)
|
rs2121247772
|
|
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala)
|
rs1565627795
|
|
NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln)
|
rs2121246284
|
|
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu)
|
rs1565627304
|
|
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val)
|
rs587784489
|
|
NM_006009.4(TUBA1A):c.528G>C (p.Gln176His)
|
|
|
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His)
|
rs886043627
|
|
NM_006015.6(ARID1A):c.4101G>A (p.Gln1367=)
|
rs2081109271
|
|
NM_006015.6(ARID1A):c.5125C>T (p.Leu1709Phe)
|
rs2081163988
|
|
NM_006019.4(TCIRG1):c.117+4A>C
|
rs751881962
|
|
NM_006019.4(TCIRG1):c.2415-2A>G
|
rs1555000376
|
|
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs)
|
rs886048594
|
|
NM_006019.4(TCIRG1):c.418-21A>G
|
rs1855249165
|
|
NM_006060.6(IKZF1):c.448T>C (p.Cys150Arg)
|
rs1812147849
|
|
NM_006060.6(IKZF1):c.485G>T (p.Arg162Leu)
|
rs770551610
|
|
NM_006060.6(IKZF1):c.548G>A (p.Arg183His)
|
rs1812172495
|
|
NM_006073.4(TRDN):c.1166-1G>A
|
rs1298986609
|
|
NM_006073.4(TRDN):c.1794del (p.Lys598fs)
|
rs1412913007
|
|
NM_006073.4(TRDN):c.1900_1903del (p.Glu634fs)
|
rs750469686
|
|
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp)
|
rs1555625363
|
|
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)
|
rs587784505
|
|
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu)
|
rs587784506
|
|
NM_006086.4(TUBB3):c.982G>A (p.Glu328Lys)
|
rs1057518686
|
|
NM_006087.4(TUBB4A):c.673C>T (p.Leu225Phe)
|
rs1568409639
|
|
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln)
|
rs121434229
|
|
NM_006147.4(IRF6):c.911T>C (p.Leu304Pro)
|
rs1064793154
|
|
NM_006147.4(IRF6):c.961G>A (p.Val321Met)
|
rs2102536882
|
|
NM_006204.4(PDE6C):c.1613T>C (p.Phe538Ser)
|
rs786205462
|
|
NM_006204.4(PDE6C):c.2141T>A (p.Ile714Asn)
|
rs1064797148
|
|
NM_006206.6(PDGFRA):c.2536G>T (p.Asp846Tyr)
|
rs121908588
|
|
NM_006206.6(PDGFRA):c.451C>T (p.Arg151Cys)
|
rs1449637193
|
|
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)
|
rs397517199
|
|
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)
|
rs121913286
|
|
NM_006231.4(POLE):c.1020+1G>T
|
rs1064794748
|
|
NM_006231.4(POLE):c.1021-26_1045delinsGTTCTACACC
|
rs1555229232
|
|
NM_006231.4(POLE):c.1487del (p.Gly496fs)
|
rs1555228358
|
|
NM_006231.4(POLE):c.1A>G (p.Met1Val)
|
rs878854847
|
|
NM_006231.4(POLE):c.205-2A>G
|
rs2043148194
|
|
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter)
|
rs1555225958
|
|
NM_006231.4(POLE):c.2T>C (p.Met1Thr)
|
rs879254126
|
|
NM_006231.4(POLE):c.4149+2T>C
|
rs1064796760
|
|
NM_006231.4(POLE):c.4290+1G>A
|
rs1565940214
|
|
NM_006231.4(POLE):c.4480_4481del (p.Gln1494fs)
|
rs1593733806
|
|
NM_006231.4(POLE):c.4551+2_4551+3del
|
rs1251654299
|
|
NM_006231.4(POLE):c.5378+1G>T
|
rs747165215
|
|
NM_006231.4(POLE):c.5552+1G>A
|
rs1555221894
|
|
NM_006231.4(POLE):c.5553-1G>A
|
rs1064796152
|
|
NM_006231.4(POLE):c.6136+1G>T
|
rs1593708662
|
|
NM_006231.4(POLE):c.6623del (p.Gln2208fs)
|
rs1555301070
|
|
NM_006236.3(POU3F3):c.1303_1305del (p.Glu435del)
|
|
|
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val)
|
rs1064794719
|
|
NM_006261.5(PROP1):c.611del (p.Gly204fs)
|
rs1554182368
|
|
NM_006261.5(PROP1):c.629dup (p.Pro211fs)
|
rs761018422
|
|
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg)
|
rs387907213
|
|
NM_006269.2(RP1):c.3319C>G (p.Gln1107Glu)
|
rs939932729
|
|
NM_006294.5(UQCRB):c.324G>T (p.Trp108Cys)
|
rs863224258
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del)
|
rs797045991
|
|
NM_006306.4(SMC1A):c.124A>G (p.Met42Val)
|
rs1556891104
|
|
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly)
|
rs587784405
|
|
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His)
|
rs587784407
|
|
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)
|
rs587784422
|
|
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys)
|
rs864309526
|
|
NM_006329.4(FBLN5):c.161G>A (p.Arg54Gln)
|
rs759434738
|
|
NM_006343.3(MERTK):c.2163T>A (p.His721Gln)
|
rs749472520
|
|
NM_006343.3(MERTK):c.2577_2578dup (p.Ser860fs)
|
rs1342715176
|
|
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro)
|
rs373301983
|
|
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)
|
rs549586181
|
|
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp)
|
rs76436818
|
|
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del)
|
rs1911196248
|
|
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs)
|
rs1064797215
|
|
NM_006493.4(CLN5):c.173+5G>A
|
rs2034192763
|
|
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro)
|
rs386833976
|
|
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)
|
rs386833977
|
|
NM_006494.4(ERF):c.194G>A (p.Arg65Gln)
|
rs587777009
|
|
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp)
|
rs267607059
|
|
NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser)
|
rs1085308009
|
|
NM_006516.4(SLC2A1):c.523G>C (p.Gly175Arg)
|
rs1085308009
|
|
NM_006516.4(SLC2A1):c.593T>C (p.Leu198Pro)
|
rs2124449372
|
|
NM_006516.4(SLC2A1):c.631C>T (p.Pro211Ser)
|
rs796053247
|
|
NM_006516.4(SLC2A1):c.643C>T (p.Leu215Phe)
|
rs1570592813
|
|
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys)
|
rs2124448063
|
|
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His)
|
rs727504155
|
|
NM_006531.5(IFT88):c.1082dup (p.Asn361fs)
|
rs1594100988
|
|
NM_006531.5(IFT88):c.2087G>C (p.Arg696Pro)
|
rs373832683
|
|
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)
|
rs886037963
|
|
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln)
|
rs1567610917
|
|
NM_006565.4(CTCF):c.1129C>A (p.Arg377Ser)
|
rs1555535157
|
|
NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly)
|
rs770597592
|
|
NM_006567.5(FARS2):c.253C>G (p.Pro85Ala)
|
rs770035560
|
|
NM_006567.5(FARS2):c.457A>G (p.Arg153Gly)
|
rs1561990337
|
|
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg)
|
rs587777770
|
|
NM_006623.4(PHGDH):c.781G>A (p.Val261Met)
|
rs267606947
|
|
NM_006642.5(SDCCAG8):c.1853+1G>A
|
rs1573930690
|
|
NM_006662.3(SRCAP):c.1135-2A>G
|
|
|
NM_006662.3(SRCAP):c.8257C>T (p.Arg2753Trp)
|
rs1131691316
|
|
NM_006734.4(HIVEP2):c.2683G>A (p.Glu895Lys)
|
rs1775559365
|
|
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys)
|
rs199474721
|
|
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser)
|
rs1064794000
|
|
NM_006767.4(LZTR1):c.1199T>C (p.Met400Thr)
|
|
|
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)
|
rs747430075
|
|
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His)
|
rs935736801
|
|
NM_006767.4(LZTR1):c.1339T>G (p.Phe447Val)
|
rs1312334046
|
|
NM_006767.4(LZTR1):c.1687G>C (p.Glu563Gln)
|
rs1374240053
|
|
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln)
|
rs370638947
|
|
NM_006767.4(LZTR1):c.209A>G (p.Lys70Arg)
|
|
|
NM_006767.4(LZTR1):c.2443C>T (p.Gln815Ter)
|
|
|
NM_006767.4(LZTR1):c.320+1G>A
|
rs943939913
|
|
NM_006767.4(LZTR1):c.347C>T (p.Ala116Val)
|
|
|
NM_006767.4(LZTR1):c.370GTC[1] (p.Val125del)
|
rs755783378
|
|
NM_006767.4(LZTR1):c.400+1G>C
|
rs1555927561
|
|
NM_006767.4(LZTR1):c.401-1G>C
|
rs747225246
|
|
NM_006767.4(LZTR1):c.651+5G>A
|
rs766055427
|
|
NM_006767.4(LZTR1):c.677C>T (p.Pro226Leu)
|
rs2147964011
|
|
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu)
|
rs397514670
|
|
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)
|
rs1064795331
|
|
NM_006772.3(SYNGAP1):c.1802C>A (p.Ala601Glu)
|
rs1761012352
|
|
NM_006772.3(SYNGAP1):c.3238G>A (p.Ala1080Thr)
|
rs1200128322
|
|
NM_006772.3(SYNGAP1):c.3494C>T (p.Ser1165Leu)
|
rs875989808
|
|
NM_006772.3(SYNGAP1):c.3583-6G>A
|
rs869312674
|
|
NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe)
|
rs1761209473
|
|
NM_006772.3(SYNGAP1):c.388-3C>G
|
rs1448169616
|
|
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys)
|
rs1554121206
|
|
NM_006796.3(AFG3L2):c.1219G>A (p.Asp407Asn)
|
rs2143171648
|
|
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr)
|
rs1598820805
|
|
NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp)
|
rs1567948262
|
|
NM_006852.6(TLK2):c.1637G>A (p.Arg546Gln)
|
rs2147165727
|
|
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp)
|
rs1555639254
|
|
NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser)
|
rs150736372
|
|
NM_006895.3(HNMT):c.475del (p.His159fs)
|
rs765863580
|
|
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu)
|
rs1557960268
|
|
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)
|
rs869312687
|
|
NM_006914.4(RORB):c.1163T>A (p.Ile388Asn)
|
|
|
NM_006914.4(RORB):c.784T>C (p.Cys262Arg)
|
rs2118516548
|
|
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del)
|
rs1556313414
|
|
NM_006915.3(RP2):c.768G>C (p.Glu256Asp)
|
rs1227276668
|
|
NM_006941.4(SOX10):c.323T>C (p.Met108Thr)
|
rs1932464492
|
|
NM_006946.4(SPTBN2):c.185C>A (p.Thr62Asn)
|
rs2135526299
|
|
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro)
|
rs1554984881
|
|
NM_006949.4(STXBP2):c.703C>G (p.Arg235Gly)
|
rs753879238
|
|
NM_006950.3(SYN1):c.614T>A (p.Leu205Gln)
|
rs2057892972
|
|
NM_007055.4(POLR3A):c.1649A>G (p.Tyr550Cys)
|
rs886047289
|
|
NM_007055.4(POLR3A):c.1862G>A (p.Gly621Asp)
|
rs757718124
|
|
NM_007055.4(POLR3A):c.2011T>C (p.Trp671Arg)
|
rs1446265632
|
|
NM_007055.4(POLR3A):c.2533A>G (p.Thr845Ala)
|
|
|
NM_007055.4(POLR3A):c.2547C>G (p.Phe849Leu)
|
rs1847342207
|
|
NM_007055.4(POLR3A):c.3014G>T (p.Arg1005Leu)
|
rs200118797
|
|
NM_007059.4(KPTN):c.863+5G>A
|
rs774473819
|
|
NM_007078.3(LDB3):c.1609del (p.Gln537fs)
|
rs727503129
|
|
NM_007103.4(NDUFV1):c.733G>A (p.Val245Met)
|
|
|
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln)
|
rs1745369142
|
|
NM_007118.4(TRIO):c.4103A>G (p.Asp1368Gly)
|
rs2152363791
|
|
NM_007194.4(CHEK2):c.1102G>A (p.Asp368Asn)
|
rs755127902
|
|
NM_007194.4(CHEK2):c.1159A>G (p.Thr387Ala)
|
rs771387164
|
|
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys)
|
rs200928781
|
|
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu)
|
rs587780170
|
|
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr)
|
rs578218280
|
|
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del)
|
rs876659422
|
|
NM_007194.4(CHEK2):c.1461+5G>A
|
rs769841229
|
|
NM_007194.4(CHEK2):c.1542+3A>G
|
rs1060502722
|
|
NM_007194.4(CHEK2):c.1A>G (p.Met1Val)
|
rs863224748
|
|
NM_007194.4(CHEK2):c.1A>T (p.Met1Leu)
|
rs863224748
|
|
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile)
|
rs786203977
|
|
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)
|
rs786203192
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007194.4(CHEK2):c.593-1G>C
|
rs786203229
|
|
NM_007194.4(CHEK2):c.762G>T (p.Arg254Ser)
|
rs878854922
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007198.4(PLPBP):c.199G>A (p.Glu67Lys)
|
|
|
NM_007215.4(POLG2):c.873C>G (p.Tyr291Ter)
|
rs1555668353
|
|
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro)
|
rs376854895
|
|
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)
|
rs587784367
|
|
NM_007272.3(CTRC):c.231-2A>G
|
rs1570783505
|
|
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg)
|
rs202058123
|
|
NM_007294.4(BRCA1):c.122A>T (p.His41Leu)
|
rs80357276
|
|
NM_007294.4(BRCA1):c.134+5G>A
|
rs80358038
|
|
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)
|
rs80357150
|
|
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg)
|
rs28897672
|
|
NM_007294.4(BRCA1):c.203T>G (p.Ile68Arg)
|
rs80357116
|
|
NM_007294.4(BRCA1):c.4096+3A>G
|
rs80358015
|
|
NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His)
|
rs80356857
|
|
NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr)
|
rs273900729
|
|
NM_007294.4(BRCA1):c.442C>T (p.Gln148Ter)
|
rs876659614
|
|
NM_007294.4(BRCA1):c.4484+5G>T
|
rs886040910
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.4951T>C (p.Ser1651Pro)
|
rs879254042
|
|
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)
|
rs80357390
|
|
NM_007294.4(BRCA1):c.5003T>C (p.Phe1668Ser)
|
rs1567772408
|
|
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
|
rs80358343
|
|
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5074+3A>G
|
rs80358181
|
|
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)
|
rs80187739
|
|
NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala)
|
rs397509222
|
|
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del)
|
rs80358345
|
|
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)
|
rs80356993
|
|
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr)
|
rs397507241
|
|
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro)
|
rs41293459
|
|
NM_007294.4(BRCA1):c.5096G>T (p.Arg1699Leu)
|
rs41293459
|
|
NM_007294.4(BRCA1):c.5098A>G (p.Thr1700Ala)
|
rs397509227
|
|
NM_007294.4(BRCA1):c.5107T>G (p.Tyr1703Asp)
|
rs863224763
|
|
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)
|
rs80356860
|
|
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)
|
rs80357132
|
|
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly)
|
rs80357243
|
|
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)
|
rs45444999
|
|
NM_007294.4(BRCA1):c.5152+5G>A
|
rs80358165
|
|
NM_007294.4(BRCA1):c.5152+6T>C
|
rs80358074
|
|
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly)
|
rs1567769155
|
|
NM_007294.4(BRCA1):c.5153G>C (p.Trp1718Ser)
|
rs41293461
|
|
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)
|
rs80357239
|
|
NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro)
|
rs483353100
|
|
NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5194-12G>A
|
rs80358079
|
|
NM_007294.4(BRCA1):c.5202T>G (p.Phe1734Leu)
|
rs869320780
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5210GAG[1] (p.Gly1738del)
|
rs80358347
|
|
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)
|
rs80356937
|
|
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu)
|
rs80357450
|
|
NM_007294.4(BRCA1):c.5215G>T (p.Asp1739Tyr)
|
rs80357283
|
|
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)
|
rs80357227
|
|
NM_007294.4(BRCA1):c.5236C>G (p.His1746Asp)
|
rs80357146
|
|
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)
|
rs397509243
|
|
NM_007294.4(BRCA1):c.5254G>A (p.Ala1752Thr)
|
rs80357074
|
|
NM_007294.4(BRCA1):c.5333-6T>G
|
rs397509266
|
|
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)
|
rs398122697
|
|
NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp)
|
rs80357069
|
|
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr)
|
rs80357078
|
|
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.5425G>T (p.Val1809Phe)
|
rs28897698
|
|
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg)
|
rs80357040
|
|
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala)
|
rs1800751
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)
|
rs80356959
|
|
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)
|
rs80356959
|
|
NM_007294.4(BRCA1):c.5513T>G (p.Val1838Gly)
|
rs80357107
|
|
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser)
|
rs398122702
|
|
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg)
|
rs80357299
|
|
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn)
|
rs80357368
|
|
NM_007294.4(BRCA1):c.5522G>C (p.Ser1841Thr)
|
rs80357368
|
|
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys)
|
rs80357258
|
|
NM_007294.4(BRCA1):c.5564del (p.Ile1855fs)
|
rs1555574355
|
|
NM_007294.4(BRCA1):c.5578dup (p.His1860fs)
|
rs397507254
|
|
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)
|
rs80357438
|
|
NM_007294.4(BRCA1):c.670G>A (p.Ala224Thr)
|
rs431825419
|
|
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.80+5G>A
|
rs80358045
|
|
NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro)
|
rs80357266
|
|
NM_007315.4(STAT1):c.1168A>G (p.Met390Val)
|
rs1574648919
|
|
NM_007315.4(STAT1):c.629G>A (p.Arg210Lys)
|
rs1693996119
|
|
NM_007315.4(STAT1):c.850G>A (p.Glu284Lys)
|
rs1574657750
|
|
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys)
|
rs2045826576
|
|
NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met)
|
rs780680047
|
|
NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln)
|
rs1554770044
|
|
NM_007327.4(GRIN1):c.1910C>T (p.Ala637Val)
|
rs1554770221
|
|
NM_007327.4(GRIN1):c.1974C>G (p.Asp658Glu)
|
rs1064795712
|
|
NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu)
|
rs1328780843
|
|
NM_007327.4(GRIN1):c.2417C>T (p.Ala806Val)
|
rs1554770589
|
|
NM_007327.4(GRIN1):c.2444G>A (p.Gly815Glu)
|
rs1833698535
|
|
NM_007327.4(GRIN1):c.2500G>C (p.Glu834Gln)
|
rs1588735834
|
|
NM_007327.4(GRIN1):c.421G>A (p.Val141Met)
|
rs1293947350
|
|
NM_007327.4(GRIN1):c.448G>A (p.Val150Met)
|
rs1187375556
|
|
NM_007373.4(SHOC2):c.517A>G (p.Met173Val)
|
rs1057518206
|
|
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)
|
rs730881020
|
|
NM_007375.4(TARDBP):c.893G>T (p.Gly298Val)
|
rs1643653768
|
|
NM_012062.5(DNM1L):c.25_28delinsCACT (p.Asn9_Lys10delinsHisTer)
|
rs1555229978
|
|
NM_012079.6(DGAT1):c.1007TCT[2] (p.Phe338del)
|
rs782575471
|
|
NM_012079.6(DGAT1):c.629_631del (p.Ser210del)
|
rs782577883
|
|
NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del)
|
rs545551160
|
|
NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu)
|
rs141970072
|
|
NM_012144.4(DNAI1):c.1204G>A (p.Gly402Ser)
|
rs746647838
|
|
NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys)
|
rs755377651
|
|
NM_012199.5(AGO1):c.2342C>T (p.Thr781Met)
|
rs2148725999
|
|
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del)
|
rs1553154062
|
|
NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu)
|
|
|
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs)
|
rs1554749639
|
|
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr)
|
rs200632069
|
|
NM_012208.4(HARS2):c.1403G>C (p.Gly468Ala)
|
rs748402163
|
|
NM_012208.4(HARS2):c.389A>G (p.Tyr130Cys)
|
rs763261995
|
|
NM_012469.4(PRPF6):c.514C>T (p.Arg172Trp)
|
rs369787039
|
|
NM_012472.6(DNAAF11):c.79_80del (p.Ser27fs)
|
rs769220870
|
|
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser)
|
rs1554616627
|
|
NM_013247.5(HTRA2):c.1318C>T (p.Gln440Ter)
|
|
|
NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del)
|
rs748007618
|
|
NM_013275.6(ANKRD11):c.7564G>A (p.Glu2522Lys)
|
rs2033533123
|
|
NM_013275.6(ANKRD11):c.7735C>T (p.Arg2579Cys)
|
rs1567537413
|
|
NM_013275.6(ANKRD11):c.7789A>T (p.Lys2597Ter)
|
rs2033085976
|
|
NM_013328.4(PYCR2):c.596G>A (p.Arg199Gln)
|
|
|
NM_013328.4(PYCR2):c.647T>G (p.Met216Arg)
|
|
|
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)
|
rs1553157428
|
|
NM_013339.4(ALG6):c.908_910del (p.Cys303del)
|
rs1057517952
|
|
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter)
|
rs1452558347
|
|
NM_013382.7(POMT2):c.559C>T (p.Leu187Phe)
|
rs398124265
|
|
NM_013432.5(TONSL):c.1837G>T (p.Val613Leu)
|
rs778625348
|
|
NM_013432.5(TONSL):c.329G>A (p.Trp110Ter)
|
rs1002531030
|
|
NM_013432.5(TONSL):c.866-1G>C
|
rs1424148372
|
|
NM_013438.5(UBQLN1):c.377del (p.Asn126fs)
|
rs1060499753
|
|
NM_013450.4(BAZ2B):c.2105dup (p.Ser703fs)
|
|
|
NM_014000.3(VCL):c.1225C>T (p.Arg409Ter)
|
rs202005455
|
|
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys)
|
rs2147938135
|
|
NM_014014.5(SNRNP200):c.1627C>T (p.Pro543Ser)
|
rs1057519143
|
|
NM_014014.5(SNRNP200):c.2044C>T (p.Pro682Ser)
|
rs2063893838
|
|
NM_014023.4(WDR37):c.344C>T (p.Thr115Ile)
|
rs1833994284
|
|
NM_014049.5(ACAD9):c.1622A>G (p.Tyr541Cys)
|
|
|
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs)
|
rs917547961
|
|
NM_014053.4(FLVCR1):c.1317G>A (p.Met439Ile)
|
rs1665113651
|
|
NM_014053.4(FLVCR1):c.1593+5_1593+8del
|
rs771159212
|
|
NM_014055.4(IFT81):c.134T>C (p.Ile45Thr)
|
rs1227213671
|
|
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala)
|
rs1057518487
|
|
NM_014225.6(PPP2R1A):c.275C>T (p.Pro92Leu)
|
rs950558629
|
|
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)
|
rs1057519947
|
|
NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro)
|
rs2089686081
|
|
NM_014233.4(UBTF):c.2164G>T (p.Asp722Tyr)
|
rs483352703
|
|
NM_014249.4(NR2E3):c.223G>T (p.Val75Leu)
|
rs750284532
|
|
NM_014249.4(NR2E3):c.289C>T (p.Arg97Cys)
|
rs775720634
|
|
NM_014249.4(NR2E3):c.767C>T (p.Ala256Val)
|
rs377257254
|
|
NM_014270.5(SLC7A9):c.217G>A (p.Gly73Arg)
|
|
|
NM_014305.4(TGDS):c.270_271del (p.Lys91fs)
|
rs727502809
|
|
NM_014314.4(RIGI):c.2660T>C (p.Ile887Thr)
|
rs1064795754
|
|
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)
|
rs1114167288
|
|
NM_014362.4(HIBCH):c.439-2A>G
|
rs1180861300
|
|
NM_014384.3(ACAD8):c.473A>G (p.Tyr158Cys)
|
rs779385985
|
|
NM_014423.4(AFF4):c.773G>A (p.Arg258Gln)
|
rs2150098310
|
|
NM_014425.5(INVS):c.875C>T (p.Pro292Leu)
|
rs1831916010
|
|
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)
|
rs1673582111
|
|
NM_014585.6(SLC40A1):c.238G>T (p.Gly80Cys)
|
|
|
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr)
|
rs1490010141
|
|
NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln)
|
rs776859868
|
|
NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys)
|
rs869312709
|
|
NM_014712.3(SETD1A):c.2665C>T (p.Arg889Trp)
|
|
|
NM_014714.4(IFT140):c.2767_2768+2del
|
rs769075694
|
|
NM_014727.3(KMT2B):c.5114G>A (p.Arg1705Gln)
|
rs1555731980
|
|
NM_014795.4(ZEB2):c.3047G>A (p.Arg1016Gln)
|
rs2149875484
|
|
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp)
|
rs1703292916
|
|
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del)
|
rs876661144
|
|
NM_014874.4(MFN2):c.239G>T (p.Gly80Val)
|
rs139827903
|
|
NM_014874.4(MFN2):c.272T>G (p.Val91Gly)
|
rs1569816262
|
|
NM_014874.4(MFN2):c.392A>G (p.Asn131Ser)
|
rs776404901
|
|
NM_014874.4(MFN2):c.711A>T (p.Glu237Asp)
|
rs1557525000
|
|
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)
|
rs587777875
|
|
NM_014946.4(SPAST):c.1173G>A (p.Leu391=)
|
rs1679218212
|
|
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro)
|
rs1558331867
|
|
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg)
|
rs1553318317
|
|
NM_014946.4(SPAST):c.1477G>C (p.Asp493His)
|
rs1060499939
|
|
NM_014946.4(SPAST):c.1537-11A>G
|
rs549538513
|
|
NM_014946.4(SPAST):c.1762T>C (p.Ser588Pro)
|
rs1131691972
|
|
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg)
|
rs145206063
|
|
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs)
|
rs756288878
|
|
NM_014975.3(MAST1):c.1565G>A (p.Gly522Glu)
|
rs1323140691
|
|
NM_014975.3(MAST1):c.278C>T (p.Ser93Leu)
|
rs878853165
|
|
NM_014989.7(RIMS1):c.3194+1G>A
|
rs1057519205
|
|
NM_014991.6(WDFY3):c.8467C>T (p.Arg2823Trp)
|
rs1131692269
|
|
NM_015021.3(ZNF292):c.7003C>T (p.Arg2335Ter)
|
rs1168689294
|
|
NM_015046.7(SETX):c.7121_7122del (p.Val2374fs)
|
rs765371601
|
|
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg)
|
rs1553252938
|
|
NM_015047.3(EMC1):c.2858T>C (p.Phe953Ser)
|
rs1267383375
|
|
NM_015076.5(CDK19):c.594G>C (p.Trp198Cys)
|
rs1779473213
|
|
NM_015076.5(CDK19):c.95A>G (p.Tyr32Cys)
|
rs1783517622
|
|
NM_015139.3(SLC35D1):c.398C>T (p.Pro133Leu)
|
rs1558168052
|
|
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys)
|
rs1569244190
|
|
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp)
|
rs771025246
|
|
NM_015178.3(RHOBTB2):c.1376A>G (p.Asp459Gly)
|
rs1811011518
|
|
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)
|
rs1554504681
|
|
NM_015178.3(RHOBTB2):c.394C>T (p.Arg132Ter)
|
rs1585190351
|
|
NM_015202.5(KATNIP):c.2788C>T (p.Gln930Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)
|
rs1567800920
|
|
NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys)
|
rs768574664
|
|
NM_015294.6(TRIM37):c.586C>T (p.Gln196Ter)
|
rs1568191596
|
|
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter)
|
rs386834005
|
|
NM_015311.3(OBSL1):c.1534+5G>C
|
rs775172922
|
|
NM_015311.3(OBSL1):c.4535dup (p.Ile1513fs)
|
rs1434485676
|
|
NM_015335.5(MED13L):c.2333C>T (p.Ala778Val)
|
rs1555247422
|
|
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys)
|
rs2137290227
|
|
NM_015447.4(CAMSAP1):c.2638C>T (p.Gln880Ter)
|
|
|
NM_015450.3(POT1):c.1781_1782del (p.Gly594fs)
|
rs1562972380
|
|
NM_015466.4(PTPN23):c.4651_4652dup (p.Leu1552fs)
|
rs1576235873
|
|
NM_015488.5(PNKD):c.20C>T (p.Ala7Val)
|
rs121434512
|
|
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)
|
rs1553162910
|
|
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)
|
rs371753672
|
|
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)
|
rs753855245
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])
|
rs1789934246
|
|
NM_015599.3(PGM3):c.1513C>T (p.Arg505Ter)
|
rs1786845541
|
|
NM_015629.4(PRPF31):c.1146+2T>G
|
rs2073971890
|
|
NM_015629.4(PRPF31):c.682G>C (p.Ala228Pro)
|
rs2146421585
|
|
NM_015629.4(PRPF31):c.912_914dup (p.Val305dup)
|
rs2073927586
|
|
NM_015634.4(KIFBP):c.1083dup (p.Ala362fs)
|
rs769950460
|
|
NM_015634.4(KIFBP):c.1516dup (p.Ile506fs)
|
rs781469363
|
|
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)
|
rs1408840913
|
|
NM_015713.5(RRM2B):c.122G>A (p.Arg41Gln)
|
rs200273673
|
|
NM_015713.5(RRM2B):c.662A>G (p.Asn221Ser)
|
rs863224193
|
|
NM_015713.5(RRM2B):c.674_675delinsAT (p.Ser225Asn)
|
rs2132549396
|
|
NM_015713.5(RRM2B):c.790-2A>G
|
rs1441534206
|
|
NM_015836.4(WARS2):c.797del (p.Pro266fs)
|
rs746478253
|
|
NM_015909.4(NBAS):c.646A>C (p.Ser216Arg)
|
rs1663516243
|
|
NM_015909.4(NBAS):c.7041_7043del (p.Leu2348del)
|
rs1485416933
|
|
NM_015915.5(ATL1):c.1024C>G (p.Pro342Ala)
|
rs1555365509
|
|
NM_015915.5(ATL1):c.1193C>A (p.Ser398Tyr)
|
rs864622083
|
|
NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln)
|
rs397514712
|
|
NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp)
|
rs2140239163
|
|
NM_015915.5(ATL1):c.458G>C (p.Ser153Thr)
|
|
|
NM_015915.5(ATL1):c.740A>G (p.His247Arg)
|
rs2140226883
|
|
NM_015915.5(ATL1):c.781_782insA (p.Phe261fs)
|
rs1181733510
|
|
NM_015922.3(NSDHL):c.727G>A (p.Val243Met)
|
rs587784224
|
|
NM_015937.6(PIGT):c.1595C>T (p.Thr532Met)
|
rs1466637488
|
|
NM_015937.6(PIGT):c.709G>C (p.Glu237Gln)
|
|
|
NM_015949.3(GET4):c.837A>G (p.Ile279Met)
|
rs1844404490
|
|
NM_015981.4(CAMK2A):c.884C>A (p.Ala295Asp)
|
|
|
NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys)
|
rs76483206
|
|
NM_016032.4(ZDHHC9):c.496G>A (p.Asp166Asn)
|
rs2124105757
|
|
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys)
|
rs1163170578
|
|
NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu)
|
rs772721937
|
|
NM_016111.4(TELO2):c.2291+1G>A
|
rs76038845
|
|
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)
|
rs1131692228
|
|
NM_016188.5(ACTL6B):c.1219T>C (p.Trp407Arg)
|
rs2131330754
|
|
NM_016188.5(ACTL6B):c.695del (p.Pro232fs)
|
rs779550102
|
|
NM_016203.4(PRKAG2):c.1646A>C (p.Asp549Ala)
|
rs730880982
|
|
NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)
|
|
|
NM_016222.4(DDX41):c.1018T>A (p.Tyr340Asn)
|
|
|
NM_016222.4(DDX41):c.1030G>T (p.Asp344Tyr)
|
|
|
NM_016222.4(DDX41):c.1046T>A (p.Met349Lys)
|
|
|
NM_016222.4(DDX41):c.1334_1336del (p.Val445del)
|
rs2127436133
|
|
NM_016222.4(DDX41):c.986AGA[2] (p.Lys331del)
|
|
|
NM_016239.4(MYO15A):c.4072G>A (p.Gly1358Ser)
|
|
|
NM_016247.4(IMPG2):c.3713+5G>A
|
rs1706250496
|
|
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter)
|
rs587777127
|
|
NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter)
|
rs1484856529
|
|
NM_016373.4(WWOX):c.1204G>T (p.Glu402Ter)
|
rs200839945
|
|
NM_016519.6(AMBN):c.571-1G>C
|
|
|
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)
|
rs150384171
|
|
NM_016628.5(WAC):c.381+4_381+7del
|
rs1564400647
|
|
NM_016955.4(SEPSECS):c.114+3A>G
|
|
|
NM_017415.3(KLHL3):c.1079G>A (p.Arg360Gln)
|
rs1561586322
|
|
NM_017547.4(FOXRED1):c.239A>G (p.Tyr80Cys)
|
rs863224019
|
|
NM_017547.4(FOXRED1):c.682C>T (p.Arg228Trp)
|
rs758966293
|
|
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg)
|
rs754529382
|
|
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser)
|
rs1843232044
|
|
NM_017635.5(KMT5B):c.2597_2598del (p.Ser866fs)
|
rs888239971
|
|
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter)
|
rs184469579
|
|
NM_017654.4(SAMD9):c.2419G>A (p.Val807Ile)
|
rs1554337067
|
|
NM_017654.4(SAMD9):c.3728_3731del (p.Asn1243fs)
|
rs778111446
|
|
NM_017654.4(SAMD9):c.4198C>T (p.Pro1400Ser)
|
rs1584251663
|
|
NM_017763.6(RNF43):c.1976dup (p.Pro660fs)
|
rs755128667
|
|
NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile)
|
rs1804154342
|
|
NM_017780.4(CHD7):c.4406A>G (p.Tyr1469Cys)
|
rs2150779357
|
|
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu)
|
rs1060503188
|
|
NM_017791.3(FLVCR2):c.998G>A (p.Arg333His)
|
rs757778790
|
|
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter)
|
rs531916765
|
|
NM_017837.4(PIGV):c.198G>A (p.Trp66Ter)
|
|
|
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs)
|
rs1456129845
|
|
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp)
|
rs104894484
|
|
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)
|
rs768422260
|
|
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)
|
rs1427643616
|
|
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)
|
rs115079861
|
|
NM_017934.7(PHIP):c.2854C>T (p.Arg952Ter)
|
|
|
NM_017934.7(PHIP):c.5317C>T (p.Arg1773Ter)
|
rs1554193405
|
|
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)
|
rs753112330
|
|
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del)
|
rs762710723
|
|
NM_018052.5(VAC14):c.947-2A>G
|
|
|
NM_018055.5(NODAL):c.2T>C (p.Met1Thr)
|
|
|
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs)
|
rs750871999
|
|
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter)
|
rs529201454
|
|
NM_018082.6(POLR3B):c.1124A>T (p.Asp375Val)
|
rs2037451945
|
|
NM_018082.6(POLR3B):c.2099A>C (p.Asn700Thr)
|
rs2037839447
|
|
NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)
|
|
|
NM_018122.5(DARS2):c.1762C>G (p.Leu588Val)
|
rs972404343
|
|
NM_018122.5(DARS2):c.505C>T (p.Leu169Phe)
|
rs1064794825
|
|
NM_018122.5(DARS2):c.749T>C (p.Leu250Pro)
|
rs778283912
|
|
NM_018161.5(NADSYN1):c.1765-7T>A
|
|
|
NM_018255.4(ELP2):c.293dup (p.Leu98fs)
|
rs529659464
|
|
NM_018319.4(TDP1):c.341_342del (p.Lys114fs)
|
rs769278668
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
NM_018486.3(HDAC8):c.1112-2A>G
|
rs1131690790
|
|
NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp)
|
rs1556007534
|
|
NM_018684.4(ZC4H2):c.638G>A (p.Arg213Gln)
|
rs2147345630
|
|
NM_018713.3(SLC30A10):c.1006C>T (p.His336Tyr)
|
rs770740586
|
|
NM_018941.4(CLN8):c.46C>A (p.Leu16Met)
|
rs386834129
|
|
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys)
|
rs1808862287
|
|
NM_018972.4(GDAP1):c.194A>G (p.Glu65Gly)
|
rs2131496131
|
|
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)
|
rs104894076
|
|
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter)
|
rs1554547986
|
|
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly)
|
rs150989205
|
|
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln)
|
rs879254192
|
|
NM_019108.4(SMG9):c.701+4A>G
|
rs869312742
|
|
NM_019109.4(ALG1):c.149A>G (p.Gln50Arg)
|
rs794726944
|
|
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg)
|
rs1057520122
|
|
NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup)
|
rs1436106795
|
|
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp)
|
rs387906926
|
|
NM_019616.4(F7):c.149C>G (p.Ser50Cys)
|
rs546856641
|
|
NM_019616.4(F7):c.739+3_739+6del
|
rs754785708
|
|
NM_019888.3(MC3R):c.892_893delinsTC (p.Ile298Ser)
|
rs2146061616
|
|
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu)
|
rs398124352
|
|
NM_020166.5(MCCC1):c.1681+2dup
|
|
|
NM_020207.7(ERCC6L2):c.1111C>T (p.Arg371Cys)
|
|
|
NM_020247.5(COQ8A):c.1805C>A (p.Pro602Gln)
|
rs61995958
|
|
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu)
|
rs61995958
|
|
NM_020320.5(RARS2):c.-2A>G
|
rs201150141
|
|
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)
|
|
|
NM_020320.5(RARS2):c.734G>A (p.Arg245Gln)
|
|
|
NM_020338.4(ZMIZ1):c.859G>A (p.Ala287Thr)
|
rs1472883107
|
|
NM_020365.5(EIF2B3):c.32G>T (p.Gly11Val)
|
rs754415797
|
|
NM_020366.4(RPGRIP1):c.2367+23del
|
rs781728563
|
|
NM_020433.5(JPH2):c.1213G>T (p.Ala405Ser)
|
rs557878787
|
|
NM_020433.5(JPH2):c.424G>T (p.Gly142Ter)
|
rs765874503
|
|
NM_020435.4(GJC2):c.118G>C (p.Ala40Pro)
|
rs1302747902
|
|
NM_020435.4(GJC2):c.716T>C (p.Val239Ala)
|
|
|
NM_020435.4(GJC2):c.733T>A (p.Cys245Ser)
|
rs1571908056
|
|
NM_020435.4(GJC2):c.883C>T (p.Gln295Ter)
|
rs1375875748
|
|
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe)
|
rs767530943
|
|
NM_020451.3(SELENON):c.402_403+2del
|
rs773670891
|
|
NM_020451.3(SELENON):c.873-2A>G
|
rs1176143542
|
|
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met)
|
rs754097561
|
|
NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu)
|
rs754097561
|
|
NM_020693.4(DSCAML1):c.1231G>A (p.Val411Ile)
|
rs759222737
|
|
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1])
|
rs1398218251
|
|
NM_020719.3(PRR12):c.5187del (p.Glu1730fs)
|
rs1568430264
|
|
NM_020745.4(AARS2):c.2728_2755del (p.Thr910fs)
|
rs780343109
|
|
NM_020771.4(HACE1):c.2552dup (p.Gly852fs)
|
rs745394044
|
|
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs)
|
rs527847958
|
|
NM_020778.5(ALPK3):c.135_143+12del
|
|
|
NM_020778.5(ALPK3):c.3965+2T>C
|
|
|
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)
|
rs765513105
|
|
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs)
|
rs755184077
|
|
NM_020822.3(KCNT1):c.108del (p.Arg37fs)
|
|
|
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)
|
rs200694691
|
|
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
|
|
|
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp)
|
rs1193627908
|
|
NM_020964.3(EPG5):c.5943-9_5943-5del
|
rs773330060
|
|
NM_020975.6(RET):c.2752A>G (p.Met918Val)
|
rs377767442
|
|
NM_020987.5(ANK3):c.2902G>C (p.Asp968His)
|
rs730882195
|
|
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg)
|
rs886041715
|
|
NM_020988.3(GNAO1):c.448A>C (p.Asn150His)
|
rs2037660713
|
|
NM_020988.3(GNAO1):c.604G>A (p.Val202Ile)
|
rs1297388989
|
|
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu)
|
rs1590017652
|
|
NM_021008.4(DEAF1):c.661T>C (p.Ser221Pro)
|
rs1860668289
|
|
NM_021098.3(CACNA1H):c.2051C>A (p.Pro684His)
|
rs767983680
|
|
NM_021625.5(TRPV4):c.1303G>A (p.Glu435Lys)
|
rs1890412444
|
|
NM_021830.5(TWNK):c.1003C>A (p.Pro335Thr)
|
rs1554887028
|
|
NM_021830.5(TWNK):c.1272C>G (p.Phe424Leu)
|
rs773918715
|
|
NM_021871.4(FGA):c.1718G>T (p.Arg573Leu)
|
rs78506343
|
|
NM_021939.4(FKBP10):c.1015C>T (p.Arg339Trp)
|
rs377642451
|
|
NM_021954.4(GJA3):c.184G>A (p.Glu62Lys)
|
rs2141138365
|
|
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg)
|
rs121918422
|
|
NM_021969.3(NR0B2):c.157_166del (p.His53fs)
|
rs540387719
|
|
NM_022095.4(ZNF335):c.2442+1G>A
|
|
|
NM_022095.4(ZNF335):c.3158C>T (p.Pro1053Leu)
|
rs768092083
|
|
NM_022124.6(CDH23):c.1246_1266del (p.Ala416_Glu422del)
|
rs397517305
|
|
NM_022124.6(CDH23):c.3575_3576delinsGT (p.Val1192Gly)
|
rs1554862262
|
|
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)
|
rs121908351
|
|
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
|
rs137937502
|
|
NM_022124.6(CDH23):c.4845G>A (p.Ser1615=)
|
rs542618168
|
|
NM_022124.6(CDH23):c.5820+5G>A
|
rs2132940635
|
|
NM_022124.6(CDH23):c.9058_9060del (p.Arg3020del)
|
rs786205612
|
|
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly)
|
rs1459143051
|
|
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
|
|
|
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter)
|
rs768272570
|
|
NM_022132.5(MCCC2):c.351_353del (p.Gly118del)
|
rs758794885
|
|
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal)
|
rs797044772
|
|
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg)
|
rs1443551700
|
|
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs)
|
rs1570452214
|
|
NM_022367.4(SEMA4A):c.1000del (p.Arg334fs)
|
rs756475595
|
|
NM_022437.3(ABCG8):c.1877G>T (p.Gly626Val)
|
|
|
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg)
|
rs1554200207
|
|
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser)
|
rs1554204110
|
|
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys)
|
rs398124380
|
|
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr)
|
rs587784195
|
|
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr)
|
rs587784205
|
|
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys)
|
rs147828672
|
|
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)
|
rs147001633
|
|
NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg)
|
rs760854242
|
|
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met)
|
rs1554162016
|
|
NM_022765.4(MICAL1):c.2291_2300del (p.Gly764fs)
|
rs1447618526
|
|
NM_022773.4(LMF1):c.1024C>T (p.Arg342Ter)
|
|
|
NM_022773.4(LMF1):c.383T>A (p.Leu128Ter)
|
rs2072617381
|
|
NM_022787.4(NMNAT1):c.752A>C (p.His251Pro)
|
rs1208495291
|
|
NM_023036.6(DNAI2):c.701G>A (p.Gly234Asp)
|
rs897911822
|
|
NM_023067.4(FOXL2):c.313_315del (p.Asn105del)
|
rs1057516154
|
|
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro)
|
rs1057516160
|
|
NM_023110.3(FGFR1):c.2153G>A (p.Arg718His)
|
rs1415925468
|
|
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys)
|
rs1554570706
|
|
NM_023110.3(FGFR1):c.448+1G>C
|
rs376416531
|
|
NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp)
|
rs1246231808
|
|
NM_024079.5(ALG8):c.856T>G (p.Trp286Gly)
|
rs794727931
|
|
NM_024120.5(NDUFAF5):c.718-1G>A
|
rs1359810808
|
|
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln)
|
rs1040187200
|
|
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter)
|
rs2076453599
|
|
NM_024301.5(FKRP):c.1016G>A (p.Arg339His)
|
rs1450841129
|
|
NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr)
|
rs121918217
|
|
NM_024306.5(FA2H):c.139G>A (p.Glu47Lys)
|
rs1057518032
|
|
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val)
|
rs34946266
|
|
NM_024411.5(PDYN):c.658_659del (p.Trp220fs)
|
rs748307861
|
|
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly)
|
rs794728075
|
|
NM_024422.6(DSC2):c.2125+1del
|
rs794728072
|
|
NM_024422.6(DSC2):c.2398del (p.Ala800fs)
|
rs397517399
|
|
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs)
|
rs794728077
|
|
NM_024426.6(WT1):c.649A>G (p.Ile217Val)
|
rs1384974578
|
|
NM_024496.4(IRF2BPL):c.519C>G (p.Tyr173Ter)
|
rs1555377415
|
|
NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys)
|
rs1225502334
|
|
NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr)
|
rs1457494794
|
|
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)
|
rs74555752
|
|
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val)
|
rs139653980
|
|
NM_024577.4(SH3TC2):c.3676-8G>A
|
rs772823083
|
|
NM_024577.4(SH3TC2):c.748_750del (p.Tyr250del)
|
rs1064795016
|
|
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter)
|
rs572671721
|
|
NM_024596.5(MCPH1):c.2453-1G>C
|
rs587783739
|
|
NM_024598.4(USB1):c.518T>G (p.Leu173Arg)
|
rs1555498563
|
|
NM_024642.5(GALNT12):c.2T>C (p.Met1Thr)
|
rs1005081558
|
|
NM_024642.5(GALNT12):c.710G>A (p.Trp237Ter)
|
|
|
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)
|
rs863224782
|
|
NM_024665.7(TBL1XR1):c.86G>A (p.Gly29Asp)
|
rs879255421
|
|
NM_024665.7(TBL1XR1):c.970T>G (p.Ser324Ala)
|
rs2108437312
|
|
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr)
|
rs1553810255
|
|
NM_024675.3(PALB2):c.2587-2A>G
|
rs1060502787
|
|
NM_024675.4(PALB2):c.104T>C (p.Leu35Pro)
|
rs141047069
|
|
NM_024675.4(PALB2):c.1684+1G>A
|
rs1555461148
|
|
NM_024675.4(PALB2):c.1685-1G>A
|
rs1057520645
|
|
NM_024675.4(PALB2):c.1685-1G>C
|
rs1057520645
|
|
NM_024675.4(PALB2):c.18G>T (p.Gly6=)
|
rs587782462
|
|
NM_024675.4(PALB2):c.2587-1G>C
|
rs761214886
|
|
NM_024675.4(PALB2):c.2587-2A>C
|
rs1060502787
|
|
NM_024675.4(PALB2):c.2768T>G (p.Val923Gly)
|
rs1597082876
|
|
NM_024675.4(PALB2):c.2996+5G>T
|
rs879254193
|
|
NM_024675.4(PALB2):c.2997-1G>A
|
rs754465466
|
|
NM_024675.4(PALB2):c.311C>T (p.Pro104Leu)
|
rs1555461835
|
|
NM_024675.4(PALB2):c.3201+1G>C
|
rs587776423
|
|
NM_024675.4(PALB2):c.3201G>A (p.Met1067Ile)
|
rs1555458809
|
|
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)
|
rs876659859
|
|
NM_024675.4(PALB2):c.49-1G>A
|
rs1440838364
|
|
NM_024675.4(PALB2):c.49-2A>G
|
|
|
NM_024675.4(PALB2):c.49-2A>T
|
rs786203245
|
|
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
|
|
|
NM_024685.4(BBS10):c.1949del (p.Gly650fs)
|
rs769028262
|
|
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys)
|
rs756632517
|
|
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs)
|
rs1555202687
|
|
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn)
|
rs2150668444
|
|
NM_024747.6(HPS6):c.238dup (p.Asp80fs)
|
rs281865108
|
|
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu)
|
rs587780332
|
|
NM_024876.4(COQ8B):c.748G>C (p.Asp250His)
|
rs769834604
|
|
NM_024915.4(GRHL2):c.21-2A>G
|
rs1811191593
|
|
NM_024996.7(GFM1):c.573-1G>C
|
rs2108009356
|
|
NM_024996.7(GFM1):c.749G>A (p.Arg250Gln)
|
rs752251570
|
|
NM_024996.7(GFM1):c.829dup (p.Ser277fs)
|
rs771865940
|
|
NM_025099.6(CTC1):c.833G>T (p.Gly278Val)
|
rs768853291
|
|
NM_025103.4(IFT74):c.256+1G>C
|
|
|
NM_025114.4(CEP290):c.6447del (p.Glu2149fs)
|
rs1157238971
|
|
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)
|
rs569673313
|
|
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)
|
rs312262737
|
|
NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val)
|
rs1057518874
|
|
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg)
|
rs371334506
|
|
NM_025150.5(TARS2):c.1026G>C (p.Glu342Asp)
|
|
|
NM_025150.5(TARS2):c.774+5G>T
|
|
|
NM_030632.3(ASXL3):c.6110del (p.Pro2037fs)
|
rs747712363
|
|
NM_030665.4(RAI1):c.3440G>A (p.Arg1147Gln)
|
|
|
NM_030773.4(TUBB1):c.230G>A (p.Arg77Gln)
|
rs572988631
|
|
NM_030773.4(TUBB1):c.745G>C (p.Asp249His)
|
rs2091981798
|
|
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser)
|
rs1057517996
|
|
NM_030773.4(TUBB1):c.844C>T (p.Arg282Ter)
|
|
|
NM_030777.4(SLC2A10):c.254T>C (p.Leu85Pro)
|
rs754120063
|
|
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys)
|
rs776679653
|
|
NM_030962.4(SBF2):c.2476G>A (p.Val826Ile)
|
rs1564917788
|
|
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys)
|
rs1554700678
|
|
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser)
|
rs1085307129
|
|
NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn)
|
rs1325394060
|
|
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp)
|
rs1057520538
|
|
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs)
|
rs754216321
|
|
NM_032043.3(BRIP1):c.1140+3del
|
rs2145331108
|
|
NM_032043.3(BRIP1):c.1340+5G>C
|
rs869312791
|
|
NM_032043.3(BRIP1):c.1341-3C>G
|
rs864622597
|
|
NM_032043.3(BRIP1):c.2097+1G>C
|
rs786202941
|
|
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)
|
rs786203717
|
|
NM_032043.3(BRIP1):c.3125_3128dup (p.Ser1043fs)
|
rs2061318885
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
|
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)
|
rs778664039
|
|
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs)
|
rs756853672
|
|
NM_032043.3(BRIP1):c.3440dup (p.Asn1147fs)
|
rs753683450
|
|
NM_032043.3(BRIP1):c.93+4_93+7del
|
rs1224034842
|
|
NM_032043.3(BRIP1):c.93+5G>A
|
rs730881629
|
|
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg)
|
rs1060499795
|
|
NM_032119.4(ADGRV1):c.15980TCT[1] (p.Phe5328del)
|
rs766355750
|
|
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs)
|
rs772940104
|
|
NM_032271.3(TRAF7):c.1798G>A (p.Gly600Ser)
|
rs2141298527
|
|
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)
|
rs1331463984
|
|
NM_032316.3(NICN1):c.*2319A>G
|
rs1434994550
|
|
NM_032380.5(GFM2):c.883del (p.Val295fs)
|
|
|
NM_032415.7(CARD11):c.128C>T (p.Thr43Met)
|
rs2115094112
|
|
NM_032415.7(CARD11):c.224G>A (p.Arg75Gln)
|
rs1064795280
|
|
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter)
|
rs200628199
|
|
NM_032485.6(MCM8):c.1033C>T (p.Arg345Ter)
|
rs757546009
|
|
NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter)
|
rs1555450681
|
|
NM_032536.4(NTNG2):c.858-13G>A
|
rs1840794100
|
|
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe)
|
rs786205457
|
|
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter)
|
rs148395034
|
|
NM_032632.5(PAPOLA):c.1464A>G (p.Val488=)
|
rs483352759
|
|
NM_032730.5(RTN4IP1):c.890A>G (p.Tyr297Cys)
|
rs749329916
|
|
NM_032756.4(HPDL):c.569C>T (p.Pro190Leu)
|
rs368625962
|
|
NM_032756.4(HPDL):c.816_817del (p.Val273fs)
|
rs2149082140
|
|
NM_032806.6(POMGNT2):c.607_618del (p.Phe203_Tyr206del)
|
rs774277094
|
|
NM_032833.5(PPP1R15B):c.1973G>A (p.Arg658His)
|
rs759466766
|
|
NM_032856.5(WDR73):c.1132del (p.Arg378fs)
|
rs747109506
|
|
NM_033028.5(BBS4):c.864+1G>C
|
rs2151047618
|
|
NM_033056.4(PCDH15):c.4368-3_4369dup
|
rs866966373
|
|
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)
|
rs748086016
|
|
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs)
|
rs1287068204
|
|
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)
|
rs794727197
|
|
NM_033100.4(CDHR1):c.827G>A (p.Gly276Asp)
|
rs1589300382
|
|
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu)
|
rs2034823903
|
|
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)
|
rs28936686
|
|
NM_033337.3(CAV3):c.57C>A (p.Cys19Ter)
|
rs1182984115
|
|
NM_033360.4(KRAS):c.189G>T (p.Glu63Asp)
|
rs1592808357
|
|
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile)
|
rs1555194026
|
|
NM_033380.3(COL4A5):c.1033-6A>G
|
rs869025330
|
|
NM_033380.3(COL4A5):c.1588-10C>G
|
rs1603290097
|
|
NM_033380.3(COL4A5):c.2767+4A>G
|
|
|
NM_033380.3(COL4A5):c.3116G>A (p.Gly1039Asp)
|
rs1556421658
|
|
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser)
|
rs2147982351
|
|
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His)
|
rs2068539626
|
|
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp)
|
rs2147759208
|
|
NM_033380.3(COL4A5):c.687+5G>A
|
rs1556405930
|
|
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln)
|
rs777034646
|
|
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)
|
rs773059864
|
|
NM_052859.4(RFT1):c.1154A>G (p.Asn385Ser)
|
|
|
NM_052867.4(NALCN):c.3064A>G (p.Ile1022Val)
|
rs1555381108
|
|
NM_052867.4(NALCN):c.4004G>A (p.Ser1335Asn)
|
rs2139471533
|
|
NM_052876.4(NACC1):c.71G>A (p.Arg24Gln)
|
|
|
NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser)
|
rs928811814
|
|
NM_054012.4(ASS1):c.1087C>G (p.Arg363Gly)
|
rs121908640
|
|
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu)
|
rs376371866
|
|
NM_058195.4(CDKN2A):c.58del (p.Arg19_Val20insTer)
|
rs1563902931
|
|
NM_058195.4(CDKN2A):c.97dup (p.Glu33fs)
|
rs779306249
|
|
NM_058216.3(RAD51C):c.485G>A (p.Gly162Glu)
|
rs35151472
|
|
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn)
|
rs755849719
|
|
NM_058216.3(RAD51C):c.837+4_837+7del
|
rs727503760
|
|
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg)
|
rs1555602158
|
|
NM_058246.4(DNAJB6):c.265T>C (p.Phe89Leu)
|
rs387907150
|
|
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro)
|
rs397514662
|
|
NM_078470.6(COX15):c.211C>T (p.Arg71Ter)
|
|
|
NM_078480.3(PUF60):c.1489ATC[1] (p.Ile498del)
|
rs1064794916
|
|
NM_078480.3(PUF60):c.1673_1674del (p.Ser558fs)
|
rs1816304706
|
|
NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup)
|
rs755700896
|
|
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn)
|
rs2145836461
|
|
NM_080680.3(COL11A2):c.1119+1G>C
|
rs367706373
|
|
NM_080680.3(COL11A2):c.1179+1G>A
|
|
|
NM_080680.3(COL11A2):c.4438G>A (p.Gly1480Arg)
|
rs1172866556
|
|
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)
|
rs748440351
|
|
NM_130797.4(DPP6):c.157_184del (p.Pro53fs)
|
rs2129062565
|
|
NM_130837.3(OPA1):c.1055A>C (p.Gln352Pro)
|
rs2109014902
|
|
NM_130837.3(OPA1):c.1174C>G (p.His392Asp)
|
rs1553877591
|
|
NM_130837.3(OPA1):c.1202G>A (p.Arg401Gln)
|
rs1180256773
|
|
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro)
|
rs1553877946
|
|
NM_130837.3(OPA1):c.1498C>A (p.Arg500Ser)
|
rs886043340
|
|
NM_130837.3(OPA1):c.1498C>T (p.Arg500Cys)
|
|
|
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del)
|
rs794727173
|
|
NM_130837.3(OPA1):c.1935+3A>G
|
rs398124300
|
|
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly)
|
rs2109139343
|
|
NM_130839.5(UBE3A):c.1007T>C (p.Met336Thr)
|
rs863225071
|
|
NM_130839.5(UBE3A):c.1742A>G (p.Asn581Ser)
|
rs587784517
|
|
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp)
|
rs587784528
|
|
NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu)
|
rs1951433087
|
|
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His)
|
rs774857058
|
|
NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln)
|
rs1017711925
|
|
NM_133433.4(NIPBL):c.3855+5G>A
|
rs80358378
|
|
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg)
|
rs587783948
|
|
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)
|
rs80358380
|
|
NM_133433.4(NIPBL):c.64+5G>A
|
rs587784011
|
|
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His)
|
rs587784020
|
|
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile)
|
rs587784023
|
|
NM_133443.4(GPT2):c.1172C>T (p.Pro391Leu)
|
rs140993544
|
|
NM_133443.4(GPT2):c.1441G>A (p.Gly481Ser)
|
rs745565332
|
|
NM_133459.4(CCBE1):c.213-1G>A
|
rs201030273
|
|
NM_133497.4(KCNV2):c.1015G>A (p.Asp339Asn)
|
|
|
NM_133497.4(KCNV2):c.1381G>T (p.Gly461Ter)
|
rs149648640
|
|
NM_138376.3(TTC5):c.418C>T (p.Gln140Ter)
|
|
|
NM_138395.4(MARS2):c.872del (p.Gly291fs)
|
rs1340079929
|
|
NM_138413.4(HOGA1):c.110G>T (p.Gly37Val)
|
rs772722925
|
|
NM_138413.4(HOGA1):c.134C>G (p.Pro45Arg)
|
rs764396564
|
|
NM_138413.4(HOGA1):c.908G>A (p.Arg303His)
|
|
|
NM_138459.5(NUS1):c.869G>A (p.Arg290His)
|
rs886037858
|
|
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
|
|
|
NM_138576.4(BCL11B):c.1097G>A (p.Arg366Gln)
|
rs1566794698
|
|
NM_138576.4(BCL11B):c.2507G>A (p.Ser836Asn)
|
rs2139752892
|
|
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly)
|
rs1772510920
|
|
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro)
|
rs1320401077
|
|
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)
|
rs1385935333
|
|
NM_138694.4(PKHD1):c.11785+1_11785+35del
|
rs761547193
|
|
NM_138694.4(PKHD1):c.1233+1G>A
|
rs886061623
|
|
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del)
|
rs1554217913
|
|
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg)
|
rs727504092
|
|
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp)
|
rs1554214097
|
|
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp)
|
rs794727466
|
|
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter)
|
rs886061619
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)
|
rs1581809655
|
|
NM_138694.4(PKHD1):c.5342C>T (p.Thr1781Ile)
|
rs1554197025
|
|
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys)
|
rs913487671
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
|
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys)
|
rs1554144226
|
|
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys)
|
rs1554223332
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu)
|
rs375145340
|
|
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)
|
rs1554232224
|
|
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del)
|
rs1554221478
|
|
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg)
|
rs770068023
|
|
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr)
|
rs1288017883
|
|
NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)
|
|
|
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)
|
rs146649803
|
|
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp)
|
rs1184981709
|
|
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys)
|
rs104894746
|
|
NM_139058.3(ARX):c.447GGCCGC[3] (p.Ala154_Ala155dup)
|
rs398124512
|
|
NM_139242.4(MTFMT):c.645+3A>G
|
|
|
NM_139242.4(MTFMT):c.669G>T (p.Leu223Phe)
|
rs372732702
|
|
NM_139276.3(STAT3):c.1772A>T (p.Lys591Met)
|
rs193922719
|
|
NM_139276.3(STAT3):c.1859C>T (p.Thr620Ile)
|
rs1567708034
|
|
NM_139276.3(STAT3):c.82A>G (p.Met28Val)
|
rs2145013673
|
|
NM_139279.6(MCFD2):c.47T>C (p.Leu16Pro)
|
rs1572611822
|
|
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln)
|
rs267606681
|
|
NM_144573.4(NEXN):c.1878dup (p.Asp627fs)
|
rs2102181621
|
|
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs)
|
rs775629965
|
|
NM_144573.4(NEXN):c.1935C>G (p.Phe645Leu)
|
rs794729086
|
|
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu)
|
rs727504599
|
|
NM_144672.4(OTOA):c.1265G>T (p.Gly422Val)
|
rs200689333
|
|
NM_144672.4(OTOA):c.1880C>G (p.Pro627Arg)
|
rs727503351
|
|
NM_144773.4(PROKR2):c.254G>A (p.Arg85His)
|
rs74315418
|
|
NM_144773.4(PROKR2):c.58del (p.His20fs)
|
rs587777834
|
|
NM_144991.3(TSPEAR):c.1870G>T (p.Glu624Ter)
|
rs587717339
|
|
NM_144997.7(FLCN):c.1177-5_1177-3del
|
rs767671406
|
|
NM_144997.7(FLCN):c.553T>C (p.Ser185Pro)
|
rs876657646
|
|
NM_144997.7(FLCN):c.763C>T (p.His255Tyr)
|
rs879255664
|
|
NM_145199.3(LIPT1):c.488C>T (p.Ser163Leu)
|
rs1553515438
|
|
NM_145199.3(LIPT1):c.79dup (p.Thr27fs)
|
rs757713207
|
|
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu)
|
rs552219028
|
|
NM_145207.3(AFG2A):c.2159C>T (p.Ala720Val)
|
|
|
NM_145239.3(PRRT2):c.884G>A (p.Arg295Gln)
|
rs1468206811
|
|
NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter)
|
|
|
NM_145331.3(MAP3K7):c.820C>T (p.Arg274Cys)
|
rs2127974439
|
|
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp)
|
rs1554612377
|
|
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)
|
rs886041396
|
|
NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val)
|
|
|
NM_152296.5(ATP1A3):c.569C>T (p.Pro190Leu)
|
rs1599723609
|
|
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg)
|
rs2145977694
|
|
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser)
|
rs763283033
|
|
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu)
|
rs778481181
|
|
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly)
|
rs1594865341
|
|
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs)
|
rs1180933570
|
|
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup)
|
rs386834068
|
|
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs)
|
rs764544747
|
|
NM_152564.5(VPS13B):c.3G>A (p.Met1Ile)
|
rs1060499779
|
|
NM_152564.5(VPS13B):c.5908+2dup
|
rs587777381
|
|
NM_152564.5(VPS13B):c.9331-1G>T
|
rs386834119
|
|
NM_152618.3(BBS12):c.1151del (p.Ser384fs)
|
rs1553941404
|
|
NM_152618.3(BBS12):c.1291C>T (p.Arg431Trp)
|
rs756955366
|
|
NM_152654.3(DAND5):c.396_397dup (p.Tyr133fs)
|
rs768842269
|
|
NM_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu)
|
rs1554341671
|
|
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys)
|
rs1562789302
|
|
NM_152703.5(SAMD9L):c.4224dup (p.Gln1409fs)
|
rs759143613
|
|
NM_152707.4(SLC25A16):c.92G>T (p.Arg31Leu)
|
rs771745123
|
|
NM_152906.7(TANGO2):c.149T>C (p.Leu50Pro)
|
rs1328647913
|
|
NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro)
|
rs104894605
|
|
NM_153006.3(NAGS):c.1552G>A (p.Ala518Thr)
|
|
|
NM_153006.3(NAGS):c.872T>A (p.Ile291Asn)
|
|
|
NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp)
|
rs867319899
|
|
NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg)
|
rs200415747
|
|
NM_153240.5(NPHP3):c.1985+5G>A
|
rs754508002
|
|
NM_153240.5(NPHP3):c.974T>C (p.Leu325Pro)
|
rs1560014265
|
|
NM_153240.5(NPHP3):c.985T>C (p.Cys329Arg)
|
rs766285779
|
|
NM_153638.4(PANK2):c.42_67del (p.Ala15fs)
|
rs760822872
|
|
NM_153682.3(PIGP):c.290del (p.Asn97fs)
|
rs759209452
|
|
NM_153700.2(STRC):c.5125A>G (p.Thr1709Ala)
|
rs1336307815
|
|
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)
|
rs863225238
|
|
NM_153717.3(EVC):c.2449+1G>A
|
rs1553893423
|
|
NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter)
|
rs58528565
|
|
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu)
|
rs58789393
|
|
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr)
|
rs60446065
|
|
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly)
|
rs28928902
|
|
NM_170707.4(LMNA):c.1698+1G>C
|
rs1553266337
|
|
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)
|
rs918645468
|
|
NM_170707.4(LMNA):c.344A>T (p.Glu115Val)
|
rs794728588
|
|
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro)
|
rs397517902
|
|
NM_170707.4(LMNA):c.513+2T>G
|
rs1553264668
|
|
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu)
|
rs267607629
|
|
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)
|
rs199474724
|
|
NM_170707.4(LMNA):c.938T>C (p.Leu313Pro)
|
rs2102886618
|
|
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met)
|
rs118192219
|
|
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile)
|
rs794727741
|
|
NM_172250.3(MMAA):c.1114del (p.Gln372fs)
|
rs765726949
|
|
NM_172250.3(MMAA):c.439+4_439+7del
|
rs1553957939
|
|
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly)
|
rs920825350
|
|
NM_172351.3(CD46):c.1082+2T>G
|
rs1184770295
|
|
NM_172351.3(CD46):c.944-1G>C
|
|
|
NM_172362.3(KCNH1):c.1478C>A (p.Thr493Asn)
|
rs1574266171
|
|
NM_172364.5(CACNA2D4):c.1564C>T (p.Arg522Ter)
|
|
|
NM_172364.5(CACNA2D4):c.548_554del (p.Leu183fs)
|
rs1210621191
|
|
NM_173076.3(ABCA12):c.179G>C (p.Arg60Pro)
|
rs762065937
|
|
NM_173477.5(USH1G):c.251T>C (p.Leu84Pro)
|
rs397517927
|
|
NM_173630.4(RTTN):c.4295G>A (p.Arg1432His)
|
rs1465962355
|
|
NM_173660.5(DOK7):c.533-2A>G
|
|
|
NM_173689.7(CRB2):c.597_600delinsTCATGTCAACGTGCCCTGGTCAACGGGCACCCGT (p.His200_Asp201insValAsnValProTrpSerThrGlyThrArg)
|
rs2132756010
|
|
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu)
|
rs778849441
|
|
NM_174936.4(PCSK9):c.316G>A (p.Gly106Arg)
|
rs2100267180
|
|
NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg)
|
rs1057519691
|
|
NM_174936.4(PCSK9):c.644G>A (p.Arg215His)
|
rs794728683
|
|
NM_175914.5(HNF4A):c.239G>A (p.Cys80Tyr)
|
rs2146375487
|
|
NM_175914.5(HNF4A):c.577G>T (p.Asp193Tyr)
|
|
|
NM_175914.5(HNF4A):c.868C>T (p.Arg290Cys)
|
rs1555817727
|
|
NM_175914.5(HNF4A):c.869G>A (p.Arg290His)
|
rs1191912908
|
|
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu)
|
rs369429452
|
|
NM_175914.5(HNF4A):c.932G>A (p.Arg311His)
|
rs1375557127
|
|
NM_176787.5(PIGN):c.160C>T (p.Leu54Phe)
|
rs1599663316
|
|
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu)
|
rs201835155
|
|
NM_176824.3(BBS7):c.1891-2A>C
|
rs1057519027
|
|
NM_176869.3(PPA2):c.938C>A (p.Ser313Ter)
|
rs151331559
|
|
NM_176869.3(PPA2):c.939+2T>C
|
rs757950857
|
|
NM_177400.3(NKX6-2):c.234dup (p.Leu79fs)
|
rs765650727
|
|
NM_177402.5(SYT2):c.797_801+1del
|
|
|
NM_177438.3(DICER1):c.4889G>T (p.Arg1630Leu)
|
rs368343829
|
|
NM_177438.3(DICER1):c.5096-12G>A
|
rs1566750865
|
|
NM_177438.3(DICER1):c.5452G>A (p.Ala1818Thr)
|
rs1889802883
|
|
NM_177438.3(DICER1):c.5656G>A (p.Gly1886Arg)
|
rs1566744851
|
|
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs)
|
rs1211773372
|
|
NM_177550.5(SLC13A5):c.369-2A>G
|
rs1973796030
|
|
NM_177550.5(SLC13A5):c.785T>C (p.Leu262Pro)
|
rs1973699059
|
|
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His)
|
rs1057518092
|
|
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter)
|
rs1034583315
|
|
NM_177924.5(ASAH1):c.994G>C (p.Asp332His)
|
rs941670381
|
|
NM_177924.5(ASAH1):c.998G>A (p.Arg333His)
|
rs1588974098
|
|
NM_177965.4(CFAP418):c.374+1G>C
|
|
|
NM_178012.5(TUBB2B):c.533C>T (p.Thr178Met)
|
rs1057520391
|
|
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)
|
rs145844329
|
|
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter)
|
rs201017122
|
|
NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly)
|
rs1560092712
|
|
NM_181458.4(PAX3):c.241G>T (p.Gly81Cys)
|
rs483353059
|
|
NM_181486.4(TBX5):c.242+4A>G
|
rs886044059
|
|
NM_181486.4(TBX5):c.510+5G>A
|
rs1555226301
|
|
NM_181783.4(TMTC3):c.747TGT[1] (p.Val251del)
|
rs771461068
|
|
NM_181882.3(PRX):c.3198del (p.Phe1066fs)
|
rs1599651549
|
|
NM_182760.4(SUMF1):c.536G>C (p.Trp179Ser)
|
|
|
NM_182931.3(KMT2E):c.1130+2T>C
|
rs1554394210
|
|
NM_182943.3(PLOD2):c.2122-2A>G
|
|
|
NM_182961.4(SYNE1):c.16390-2A>C
|
rs759460806
|
|
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)
|
rs398124562
|
|
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly)
|
rs869312126
|
|
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn)
|
rs398124575
|
|
NM_183050.4(BCKDHB):c.885del (p.Gly296fs)
|
rs398124599
|
|
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)
|
rs1554205541
|
|
NM_183065.4(TMEM107):c.*718G>A
|
rs201686383
|
|
NM_183065.4(TMEM107):c.*745C>G
|
rs746503581
|
|
NM_183075.3(CYP2U1):c.1355A>T (p.Asp452Val)
|
|
|
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala)
|
rs1896186645
|
|
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro)
|
rs104894497
|
|
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg)
|
rs80356585
|
|
NM_194277.3(FRMD7):c.782G>A (p.Arg261Gln)
|
rs1332489637
|
|
NM_194279.4(ISCA2):c.297del (p.Phe99fs)
|
rs778755775
|
|
NM_194454.3(KRIT1):c.2142+2dup
|
|
|
NM_197968.4(ZMYM2):c.1765C>T (p.Arg589Ter)
|
rs1952668177
|
|
NM_198253.3(TERT):c.-124C>T
|
rs1242535815
|
|
NM_198253.3(TERT):c.2329G>A (p.Val777Met)
|
rs1554040129
|
|
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu)
|
rs387907251
|
|
NM_198428.3(BBS9):c.1812del (p.Glu604fs)
|
rs1229015450
|
|
NM_198514.4(NHLRC2):c.1A>G (p.Met1Val)
|
rs2134678958
|
|
NM_198880.3(QRICH1):c.2266C>T (p.Arg756Trp)
|
|
|
NM_198880.3(QRICH1):c.851C>T (p.Pro284Leu)
|
rs2093408453
|
|
NM_198904.4(GABRG2):c.247C>T (p.Pro83Ser)
|
rs587777365
|
|
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys)
|
rs2113325423
|
|
NM_198904.4(GABRG2):c.893A>C (p.Lys298Thr)
|
rs1764627724
|
|
NM_198994.3(TGM6):c.1430_1439del (p.Gly477fs)
|
rs760886419
|
|
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro)
|
rs377293829
|
|
NM_199355.4(ADAMTS18):c.719A>T (p.Glu240Val)
|
|
|
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg)
|
rs878853370
|
|
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala)
|
rs773233587
|
|
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr)
|
rs1471328495
|
|
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del)
|
rs1433518605
|
|
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)
|
rs1450635782
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1])
|
rs786205252
|
|
NM_201548.5(CERKL):c.1546_1565dup (p.Gly523fs)
|
rs1064797278
|
|
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys)
|
rs569826109
|
|
NM_201596.3(CACNB2):c.1311C>A (p.Phe437Leu)
|
rs560020203
|
|
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile)
|
rs1554131502
|
|
NM_203486.3(DLL3):c.529_535del (p.Arg177fs)
|
rs1452482256
|
|
NM_205767.2(MICOS13):c.260del
|
rs759580358
|
|
NM_205768.3(ZBTB18):c.1307G>A (p.Arg436His)
|
rs1572531765
|
|
NM_205768.3(ZBTB18):c.142C>G (p.Arg48Gly)
|
rs1135401770
|
|
NM_205850.3(SLC24A5):c.546T>A (p.Ser182Arg)
|
rs1057517995
|
|
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)
|
rs397517963
|
|
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del)
|
rs1241034250
|
|
NM_206933.4(USH2A):c.12261G>C (p.Trp4087Cys)
|
|
|
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)
|
rs139474806
|
|
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)
|
rs727504551
|
|
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)
|
rs527236124
|
|
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys)
|
rs1423536179
|
|
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu)
|
rs1237333884
|
|
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)
|
rs201513512
|
|
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val)
|
rs772624410
|
|
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr)
|
rs751035557
|
|
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
|
rs368798834
|
|
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu)
|
rs1230923403
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu)
|
rs199645514
|
|
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)
|
rs886039867
|
|
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)
|
|
|
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
|
rs878853412
|
|
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser)
|
rs111033412
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.7415A>C (p.Gln2472Pro)
|
rs2102470142
|
|
NM_206933.4(USH2A):c.847A>G (p.Arg283Gly)
|
rs2102658767
|
|
NM_206965.2(FTCD):c.1366dup (p.Glu456fs)
|
rs777099958
|
|
NM_206965.2(FTCD):c.990dup (p.Pro331fs)
|
rs398124234
|
|
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe)
|
rs773779627
|
|
NM_213599.3(ANO5):c.1538C>T (p.Thr513Ile)
|
rs281865467
|
|
NM_213599.3(ANO5):c.2498T>G (p.Met833Arg)
|
|
|
NM_213599.3(ANO5):c.2503_2505del (p.Phe835del)
|
rs794727350
|
|
NM_213653.4(HJV):c.950G>A (p.Cys317Tyr)
|
rs1553769457
|
|
NR_003051.4(RMRP):n.52C>T
|
rs1064793373
|
|
NR_163945.1(LDLR-AS1):n.265_266delinsAGGAGTTTGCAGAA
|
rs879254365
|
|
Single allele
|
|
|
c.(190+1_191-1)_(694+1_695-1)dup
|
|
|
c.(313+1_314-1)_(1186+1_1187-1)dup
|
|
|