NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)
|
rs17602729
|
0.08701
|
NM_014049.5(ACAD9):c.-44_-41dup
|
rs387906242
|
0.04863
|
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
NM_000552.5(VWF):c.4196G>A (p.Arg1399His)
|
rs1800382
|
0.00907
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
FIBRINOGEN PARIS 1
|
rs2066862
|
0.00546
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr)
|
rs151098394
|
0.00465
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
NM_032588.4(TRIM63):c.*2G>A
|
rs77965623
|
0.00441
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_004970.3(IGFALS):c.860C>T (p.Pro287Leu)
|
rs35706152
|
0.00428
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)
|
rs61730509
|
0.00389
|
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile)
|
rs61752478
|
0.00384
|
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr)
|
rs58599399
|
0.00373
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_000053.4(ATP7B):c.3557-6C>T
|
rs140708492
|
0.00314
|
NM_005993.5(TBCD):c.2852+3A>G
|
rs187081192
|
0.00308
|
NM_002163.4(IRF8):c.602C>T (p.Ala201Val)
|
rs144424711
|
0.00301
|
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg)
|
rs141184379
|
0.00297
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_000282.4(PCCA):c.231+15C>T
|
rs202049874
|
0.00291
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_016363.5(GP6):c.307C>G (p.Leu103Val)
|
rs28969501
|
0.00283
|
NM_015702.3(MMADHC):c.-8C>T
|
rs180812156
|
0.00282
|
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)
|
rs34702903
|
0.00276
|
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
|
rs6054
|
0.00275
|
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)
|
rs6161
|
0.00262
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter)
|
rs28362286
|
0.00262
|
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)
|
rs146519878
|
0.00261
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_000055.4(BCHE):c.635C>T (p.Ala212Val)
|
rs114706984
|
0.00254
|
NM_000035.4(ALDOB):c.799+6G>A
|
rs141888548
|
0.00251
|
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly)
|
rs538912281
|
0.00247
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp)
|
rs121913212
|
0.00235
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_000552.5(VWF):c.4315G>A (p.Val1439Met)
|
rs150077670
|
0.00229
|
NM_000552.5(VWF):c.3089A>G (p.Gln1030Arg)
|
rs145125264
|
0.00222
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp)
|
rs371307947
|
0.00222
|
NM_000212.3(ITGB3):c.557C>T (p.Pro186Leu)
|
rs61736876
|
0.00221
|
NM_033026.6(PCLO):c.10767C>G (p.Asp3589Glu)
|
rs149879954
|
0.00221
|
NM_003922.4(HERC1):c.3374G>A (p.Gly1125Asp)
|
rs80203202
|
0.00219
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp)
|
rs61750625
|
0.00217
|
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)
|
rs56157422
|
0.00217
|
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro)
|
rs149602485
|
0.00217
|
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg)
|
rs139010200
|
0.00216
|
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)
|
rs147559466
|
0.00210
|
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)
|
rs116134953
|
0.00210
|
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)
|
rs36220240
|
0.00209
|
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp)
|
rs35859650
|
0.00208
|
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)
|
rs104895100
|
0.00207
|
NM_000484.4(APP):c.2212-11_2212-10del
|
rs112965435
|
0.00206
|
NM_001625.4(AK2):c.602A>T (p.Tyr201Phe)
|
rs113711467
|
0.00206
|
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)
|
rs148378319
|
0.00203
|
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)
|
rs41269557
|
0.00201
|
NM_000228.3(LAMB3):c.332A>G (p.Asp111Gly)
|
rs55824996
|
0.00198
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00189
|
NM_000071.3(CBS):c.954+8G>A
|
rs76292057
|
0.00188
|
NM_016653.3(MAP3K20):c.744+9A>G
|
rs148211031
|
0.00181
|
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu)
|
rs138825640
|
0.00175
|
NM_001994.3(F13B):c.1163A>T (p.Glu388Val)
|
rs5991
|
0.00175
|
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)
|
rs587780057
|
0.00174
|
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)
|
rs150734270
|
0.00173
|
NM_000520.6(HEXA):c.346+13C>T
|
rs200871198
|
0.00173
|
NM_015175.3(NBEAL2):c.5600C>T (p.Thr1867Ile)
|
rs187699322
|
0.00172
|
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser)
|
rs145553827
|
0.00171
|
NM_001025356.3(ANO6):c.1274G>A (p.Arg425Gln)
|
rs142960268
|
0.00170
|
NM_001163735.2(MYO19):c.1024G>A (p.Glu342Lys)
|
rs200728833
|
0.00170
|
NM_014244.5(ADAMTS2):c.2842G>A (p.Asp948Asn)
|
rs758419331
|
0.00169
|
NM_000552.5(VWF):c.8378T>C (p.Val2793Ala)
|
rs143743709
|
0.00168
|
NM_001497.4(B4GALT1):c.259C>T (p.Pro87Ser)
|
rs149181384
|
0.00166
|
NM_030777.4(SLC2A10):c.-15C>T
|
rs377142129
|
0.00166
|
NM_017721.5(CC2D1A):c.1357-2A>C
|
rs200557641
|
0.00164
|
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)
|
rs141399869
|
0.00163
|
NM_138694.4(PKHD1):c.8951-13C>T
|
rs112249812
|
0.00163
|
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val)
|
rs143933602
|
0.00162
|
NM_001369268.1(ACAN):c.5368T>A (p.Ser1790Thr)
|
rs201149160
|
0.00162
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_000108.5(DLD):c.338-18T>A
|
rs184851386
|
0.00160
|
NM_000352.6(ABCC8):c.3399+13G>A
|
rs182340196
|
0.00160
|
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys)
|
rs112237881
|
0.00159
|
NM_000376.3(VDR):c.1085C>T (p.Thr362Ile)
|
rs11574115
|
0.00159
|
NM_005502.4(ABCA1):c.2543-3C>T
|
rs139457469
|
0.00159
|
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)
|
rs141521925
|
0.00159
|
NM_173689.7(CRB2):c.3128C>T (p.Ser1043Phe)
|
rs35578485
|
0.00159
|
NM_001206744.2(TPO):c.2715_2724dup (p.Ala909fs)
|
rs554989865
|
0.00157
|
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)
|
rs148411623
|
0.00155
|
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00155
|
NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg)
|
rs114782902
|
0.00155
|
NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys)
|
rs79295927
|
0.00155
|
NM_003665.4(FCN3):c.232+1G>A
|
rs141300199
|
0.00153
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
NM_001378454.1(ALMS1):c.10079-11C>T
|
rs368250605
|
0.00151
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
NM_000426.4(LAMA2):c.1782+14T>C
|
rs191215452
|
0.00147
|
NM_198129.4(LAMA3):c.8851C>T (p.Arg2951Cys)
|
rs61752346
|
0.00147
|
NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys)
|
rs145201970
|
0.00146
|
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)
|
rs77820367
|
0.00146
|
NM_031471.6(FERMT3):c.527C>T (p.Ala176Val)
|
rs113348354
|
0.00146
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
NM_000030.3(AGXT):c.866G>A (p.Arg289His)
|
rs61729604
|
0.00143
|
NM_022436.3(ABCG5):c.50T>G (p.Val17Gly)
|
rs72542427
|
0.00142
|
NM_005186.4(CAPN1):c.1474G>A (p.Gly492Arg)
|
rs17883283
|
0.00140
|
NM_000044.6(AR):c.2395C>G (p.Gln799Glu)
|
rs137852591
|
0.00137
|
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr)
|
rs139852818
|
0.00137
|
NM_022772.4(EPS8L2):c.1584G>C (p.Trp528Cys)
|
rs184903112
|
0.00137
|
NM_000243.3(MEFV):c.1610+10G>T
|
rs11466033
|
0.00136
|
NM_003235.5(TG):c.1567T>C (p.Ser523Pro)
|
rs116062097
|
0.00135
|
NM_005141.5(FGB):c.298C>T (p.Pro100Ser)
|
rs2227434
|
0.00134
|
NM_001379500.1(COL18A1):c.3920C>T (p.Ser1307Leu)
|
rs61735035
|
0.00133
|
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)
|
rs142736845
|
0.00133
|
NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys)
|
rs150602845
|
0.00132
|
NM_001267550.2(TTN):c.40223A>G (p.Glu13408Gly)
|
rs183950862
|
0.00132
|
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu)
|
rs547116063
|
0.00131
|
NM_015202.5(KATNIP):c.2051C>A (p.Ser684Tyr)
|
rs144244281
|
0.00131
|
NM_001363711.2(DUOX2):c.3232G>A (p.Val1078Met)
|
rs147772932
|
0.00130
|
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile)
|
rs35555197
|
0.00130
|
NM_000529.2(MC2R):c.133G>A (p.Val45Ile)
|
rs148298654
|
0.00128
|
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr)
|
rs73019664
|
0.00128
|
NM_001369268.1(ACAN):c.2953A>G (p.Thr985Ala)
|
rs200194458
|
0.00128
|
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)
|
rs35201073
|
0.00128
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
NM_000552.5(VWF):c.1817G>A (p.Arg606Gln)
|
rs200586078
|
0.00127
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met)
|
rs75685607
|
0.00126
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_000155.3(GALT):c.-179C>T
|
rs62557482
|
0.00125
|
NM_001079802.2(FKTN):c.166-4A>G
|
rs193922689
|
0.00125
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
NM_016363.5(GP6):c.172C>T (p.Arg58Cys)
|
rs199588110
|
0.00125
|
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)
|
rs150149784
|
0.00124
|
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp)
|
rs61758863
|
0.00124
|
NM_001061.7(TBXAS1):c.179G>A (p.Arg60His)
|
rs6138
|
0.00124
|
NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu)
|
rs113443891
|
0.00123
|
NM_006514.4(SCN10A):c.-8A>T
|
rs200901459
|
0.00123
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)
|
rs61754767
|
0.00121
|
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln)
|
rs41311778
|
0.00121
|
NM_003355.3(UCP2):c.169G>A (p.Ala57Thr)
|
rs145662569
|
0.00121
|
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00120
|
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln)
|
rs61755431
|
0.00119
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_016023.5(OTUD6B):c.-39A>G
|
rs199542428
|
0.00119
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_000527.5(LDLR):c.*19G>A
|
rs56270417
|
0.00117
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser)
|
rs148935720
|
0.00116
|
NM_016023.5(OTUD6B):c.389C>A (p.Ala130Asp)
|
rs143832637
|
0.00116
|
NM_152783.5(D2HGDH):c.490+16C>T
|
rs375775579
|
0.00116
|
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter)
|
rs149266909
|
0.00116
|
NM_020066.5(FMN2):c.2821G>A (p.Gly941Arg)
|
rs141094573
|
0.00115
|
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)
|
rs11568514
|
0.00114
|
NM_005559.4(LAMA1):c.3164G>A (p.Arg1055Gln)
|
rs150940045
|
0.00114
|
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)
|
rs146344855
|
0.00113
|
NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys)
|
rs200900510
|
0.00113
|
NM_001163735.2(MYO19):c.1052T>A (p.Ile351Asn)
|
rs199978039
|
0.00112
|
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser)
|
rs115259839
|
0.00112
|
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile)
|
rs139073821
|
0.00112
|
NM_139027.6(ADAMTS13):c.2944G>A (p.Gly982Arg)
|
rs36222275
|
0.00112
|
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)
|
rs144873307
|
0.00111
|
NM_000552.5(VWF):c.974G>T (p.Cys325Phe)
|
rs11837584
|
0.00111
|
NM_003824.4(FADD):c.620C>T (p.Ala207Val)
|
rs146934620
|
0.00109
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00108
|
NM_001041.4(SI):c.2320A>G (p.Arg774Gly)
|
rs147207752
|
0.00108
|
NM_015713.5(RRM2B):c.48+96G>C
|
rs200373694
|
0.00108
|
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)
|
rs140895792
|
0.00108
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe)
|
rs201888323
|
0.00106
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu)
|
rs201889290
|
0.00106
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
NM_000053.4(ATP7B):c.*16G>A
|
rs193922100
|
0.00105
|
NM_001994.3(F13B):c.1935A>T (p.Arg645Ser)
|
rs149091258
|
0.00104
|
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)
|
rs117390537
|
0.00103
|
NM_021870.3(FGG):c.*500C>T
|
rs183036893
|
0.00103
|
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)
|
rs140690030
|
0.00103
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00102
|
NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr)
|
rs550949678
|
0.00102
|
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)
|
rs61750603
|
0.00101
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser)
|
rs141721173
|
0.00100
|
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)
|
rs143616240
|
0.00100
|
NM_001206744.2(TPO):c.*54C>T
|
rs180847489
|
0.00099
|
NM_001256317.3(TMPRSS3):c.1360T>C (p.Ter454Arg)
|
rs149919890
|
0.00098
|
NM_001369268.1(ACAN):c.5567G>A (p.Ser1856Asn)
|
rs200762388
|
0.00098
|
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp)
|
rs121965090
|
0.00098
|
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr)
|
rs141068211
|
0.00098
|
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)
|
rs117874766
|
0.00097
|
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln)
|
rs142599919
|
0.00096
|
NM_001010874.5(TECRL):c.893T>C (p.Val298Ala)
|
rs146610448
|
0.00096
|
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val)
|
rs200398000
|
0.00096
|
NM_001084.5(PLOD3):c.1093G>A (p.Ala365Thr)
|
rs150873622
|
0.00096
|
NM_001291303.3(FAT4):c.7052A>G (p.Asn2351Ser)
|
rs145105421
|
0.00096
|
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)
|
rs200334298
|
0.00096
|
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)
|
rs56355310
|
0.00095
|
NM_004807.3(HS6ST1):c.1121G>A (p.Ser374Asn)
|
rs61732021
|
0.00094
|
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)
|
rs142822371
|
0.00093
|
NM_000552.5(VWF):c.7150C>T (p.Arg2384Trp)
|
rs145697622
|
0.00093
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys)
|
rs139954767
|
0.00093
|
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)
|
rs35224686
|
0.00092
|
NM_000243.3(MEFV):c.911-12G>A
|
rs372016564
|
0.00092
|
NM_001710.6(CFB):c.837C>G (p.Asp279Glu)
|
rs147564718
|
0.00092
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile)
|
rs149487315
|
0.00091
|
NM_001261826.3(AP3D1):c.1363G>A (p.Ala455Thr)
|
rs200459002
|
0.00091
|
NM_001291303.3(FAT4):c.7231A>T (p.Thr2411Ser)
|
rs147297895
|
0.00091
|
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)
|
rs200190291
|
0.00090
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
NM_000174.5(GP9):c.368C>T (p.Pro123Leu)
|
rs202229101
|
0.00089
|
NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile)
|
rs115924432
|
0.00089
|
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)
|
rs111619594
|
0.00089
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)
|
rs199768740
|
0.00087
|
NM_004970.3(IGFALS):c.1357C>G (p.Leu453Val)
|
rs149707428
|
0.00087
|
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr)
|
rs536963649
|
0.00087
|
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00086
|
NM_003922.4(HERC1):c.1259C>T (p.Thr420Met)
|
rs201387092
|
0.00086
|
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)
|
rs77300588
|
0.00085
|
NM_016343.4(CENPF):c.4520C>T (p.Ser1507Phe)
|
rs145589304
|
0.00085
|
NM_000552.5(VWF):c.1892C>T (p.Ala631Val)
|
rs199963222
|
0.00084
|
NM_001193315.2(VIPAS39):c.1460C>T (p.Ser487Leu)
|
rs140365206
|
0.00084
|
NM_000071.3(CBS):c.*18G>A
|
rs200259659
|
0.00083
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser)
|
rs200935518
|
0.00083
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_000152.5(GAA):c.1755-18T>C
|
rs201399518
|
0.00082
|
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)
|
rs143626223
|
0.00082
|
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)
|
rs35068278
|
0.00082
|
NM_000063.6(C2):c.2171C>T (p.Pro724Leu)
|
rs145050210
|
0.00081
|
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys)
|
rs201834513
|
0.00081
|
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
|
rs201617713
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_018668.5(VPS33B):c.1714T>G (p.Phe572Val)
|
rs145092724
|
0.00079
|
NM_000110.4(DPYD):c.868A>G (p.Lys290Glu)
|
rs146356975
|
0.00078
|
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His)
|
rs184256941
|
0.00078
|
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser)
|
rs199874928
|
0.00078
|
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met)
|
rs557989446
|
0.00078
|
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro)
|
rs368060
|
0.00077
|
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys)
|
rs112250644
|
0.00077
|
NM_032387.5(WNK4):c.2157+6G>C
|
rs61755607
|
0.00077
|
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)
|
rs3219494
|
0.00076
|
NM_001365276.2(TNXB):c.2633G>A (p.Gly878Asp)
|
rs201647307
|
0.00076
|
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)
|
rs139703788
|
0.00076
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_000112.4(SLC26A2):c.782C>G (p.Ser261Cys)
|
rs114260147
|
0.00075
|
NM_000552.5(VWF):c.5384C>T (p.Ala1795Val)
|
rs146729537
|
0.00075
|
NM_001142800.2(EYS):c.3694A>T (p.Ile1232Phe)
|
rs190009374
|
0.00075
|
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)
|
rs148783445
|
0.00074
|
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly)
|
rs141649383
|
0.00074
|
NM_004562.3(PRKN):c.52G>A (p.Asp18Asn)
|
rs146288080
|
0.00074
|
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys)
|
rs147869493
|
0.00074
|
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)
|
rs202190568
|
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_000552.5(VWF):c.2340C>G (p.Asn780Lys)
|
rs143904314
|
0.00073
|
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val)
|
rs138126912
|
0.00073
|
NM_001365999.1(SZT2):c.6343C>G (p.Pro2115Ala)
|
rs147309177
|
0.00073
|
NM_004947.5(DOCK3):c.5145+4C>T
|
rs138743227
|
0.00073
|
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser)
|
rs72556555
|
0.00073
|
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys)
|
rs200206105
|
0.00073
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)
|
rs138687850
|
0.00072
|
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr)
|
rs144321760
|
0.00071
|
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)
|
rs201758548
|
0.00071
|
NM_000243.3(MEFV):c.277+6C>T
|
rs7199464
|
0.00071
|
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)
|
rs141387770
|
0.00071
|
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met)
|
rs41299658
|
0.00071
|
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)
|
rs148541407
|
0.00071
|
NM_001164508.2(NEB):c.3184A>G (p.Lys1062Glu)
|
rs192117840
|
0.00071
|
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys)
|
rs189553632
|
0.00071
|
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His)
|
rs137853902
|
0.00071
|
NM_145199.3(LIPT1):c.369del (p.Lys123fs)
|
rs552120721
|
0.00071
|
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter)
|
rs142539932
|
0.00070
|
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser)
|
rs114900922
|
0.00070
|
NM_003748.4(ALDH4A1):c.199G>A (p.Val67Met)
|
rs141327098
|
0.00070
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro)
|
rs201591640
|
0.00070
|
NM_000277.3(PAH):c.30C>G (p.Gly10=)
|
rs1801145
|
0.00069
|
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe)
|
rs199794705
|
0.00069
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
NM_000228.3(LAMB3):c.*19G>A
|
rs369211699
|
0.00068
|
NM_000383.4(AIRE):c.1118C>T (p.Ala373Val)
|
rs79212994
|
0.00068
|
NM_014875.3(KIF14):c.265G>A (p.Ala89Thr)
|
rs143156660
|
0.00068
|
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)
|
rs145208175
|
0.00068
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val)
|
rs9448884
|
0.00068
|
NM_000520.5(HEXA):c.-768A>G
|
rs539186923
|
0.00067
|
NM_005430.4(WNT1):c.754G>C (p.Gly252Arg)
|
rs200151492
|
0.00067
|
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)
|
rs148033154
|
0.00067
|
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg)
|
rs139425622
|
0.00066
|
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)
|
rs150334966
|
0.00066
|
NM_000426.4(LAMA2):c.6268+5G>C
|
rs182064878
|
0.00066
|
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
0.00066
|
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)
|
rs142558799
|
0.00066
|
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)
|
rs139203363
|
0.00066
|
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)
|
rs145651593
|
0.00066
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00066
|
NM_000306.4(POU1F1):c.605-5T>G
|
rs201406891
|
0.00065
|
NM_001164508.2(NEB):c.217C>T (p.Arg73Trp)
|
rs77994592
|
0.00065
|
NM_001256071.3(RNF213):c.14677G>C (p.Glu4893Gln)
|
rs143163385
|
0.00065
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
NM_001625.4(AK2):c.614G>A (p.Gly205Glu)
|
rs202182972
|
0.00065
|
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys)
|
rs144915346
|
0.00065
|
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln)
|
rs200780796
|
0.00065
|
NM_016343.4(CENPF):c.9158G>A (p.Arg3053Gln)
|
rs143976001
|
0.00065
|
NM_020632.3(ATP6V0A4):c.419C>T (p.Thr140Met)
|
rs144802156
|
0.00065
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_001377.3(DYNC2H1):c.8831A>G (p.Gln2944Arg)
|
rs201252553
|
0.00064
|
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys)
|
rs138218277
|
0.00064
|
NM_000054.7(AVPR2):c.913G>A (p.Ala305Thr)
|
rs145953185
|
0.00063
|
NM_000260.4(MYO7A):c.3750+5G>A
|
rs111033391
|
0.00063
|
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg)
|
rs144155507
|
0.00063
|
NM_000552.5(VWF):c.4130C>T (p.Ala1377Val)
|
rs141211612
|
0.00063
|
NM_001374385.1(ATP8B1):c.1498T>C (p.Tyr500His)
|
rs147642236
|
0.00063
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_033087.4(ALG2):c.348+6G>A
|
rs368075764
|
0.00063
|
NM_000053.4(ATP7B):c.1543+13C>T
|
rs200171850
|
0.00062
|
NM_001195248.2(APTX):c.-5+1G>T
|
rs146487634
|
0.00062
|
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)
|
rs150233690
|
0.00062
|
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met)
|
rs201177183
|
0.00062
|
NM_000091.5(COL4A3):c.2020+18A>C
|
rs374992426
|
0.00061
|
NM_000543.5(SMPD1):c.340G>A (p.Val114Met)
|
rs142215226
|
0.00061
|
NM_001089.3(ABCA3):c.385G>A (p.Val129Met)
|
rs137924161
|
0.00061
|
NM_001126108.2(SLC12A3):c.2285+8G>A
|
rs199854613
|
0.00061
|
NM_001365999.1(SZT2):c.9887G>T (p.Gly3296Val)
|
rs368272173
|
0.00061
|
NM_001372044.2(SHANK3):c.3257G>T (p.Gly1086Val)
|
rs767058690
|
0.00061
|
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)
|
rs151332923
|
0.00061
|
NM_015627.3(LDLRAP1):c.284G>A (p.Arg95Gln)
|
rs139877665
|
0.00061
|
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)
|
rs141622697
|
0.00061
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys)
|
rs138087806
|
0.00061
|
NM_000157.4(GBA1):c.1506-12C>T
|
rs368832292
|
0.00060
|
NM_001040716.2(PC):c.496G>A (p.Val166Ile)
|
rs147697454
|
0.00060
|
NM_001369268.1(ACAN):c.1448G>A (p.Arg483His)
|
rs200950723
|
0.00060
|
NM_001384732.1(CPLANE1):c.8462-1G>C
|
rs151279194
|
0.00060
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
NM_003355.3(UCP2):c.140G>A (p.Ser47Asn)
|
rs144018051
|
0.00060
|
NM_018713.3(SLC30A10):c.284C>T (p.Thr95Ile)
|
rs188273166
|
0.00060
|
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)
|
rs186924074
|
0.00059
|
NM_000237.3(LPL):c.542-8C>T
|
rs201634558
|
0.00059
|
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)
|
rs199676994
|
0.00059
|
NM_001257096.2(PAX1):c.937G>A (p.Gly313Ser)
|
rs149840627
|
0.00059
|
NM_006412.4(AGPAT2):c.761C>T (p.Thr254Ile)
|
rs147616533
|
0.00059
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)
|
rs373913704
|
0.00059
|
NM_000512.5(GALNS):c.1242+3A>G
|
rs377067312
|
0.00058
|
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro)
|
rs202227966
|
0.00058
|
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln)
|
rs201673771
|
0.00058
|
NM_018897.3(DNAH7):c.5360A>G (p.Asp1787Gly)
|
rs374415212
|
0.00058
|
NM_207361.6(FREM2):c.7535G>A (p.Arg2512His)
|
rs61978626
|
0.00058
|
NR_003051.3(RMRP):n.-12A>C
|
rs372044910
|
0.00058
|
NM_000277.3(PAH):c.289A>C (p.Ile97Leu)
|
rs142516271
|
0.00057
|
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)
|
rs149425237
|
0.00057
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)
|
rs201252809
|
0.00057
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_018249.6(CDK5RAP2):c.4039C>G (p.Leu1347Val)
|
rs144012972
|
0.00057
|
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)
|
rs150838488
|
0.00057
|
NM_198525.3(KIF7):c.2959G>A (p.Glu987Lys)
|
rs146626238
|
0.00057
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
NM_000069.3(CACNA1S):c.5049-2A>G
|
rs148989517
|
0.00056
|
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala)
|
rs144072210
|
0.00056
|
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys)
|
rs200242497
|
0.00056
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00056
|
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)
|
rs61760160
|
0.00056
|
NM_005502.4(ABCA1):c.5636+18A>C
|
rs111671370
|
0.00056
|
NM_020297.4(ABCC9):c.2238-1G>A
|
rs141281214
|
0.00056
|
NM_020778.5(ALPK3):c.2965G>A (p.Gly989Arg)
|
rs115074675
|
0.00056
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00055
|
NM_001164508.2(NEB):c.14869T>A (p.Tyr4957Asn)
|
rs756192566
|
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_002427.4(MMP13):c.190A>C (p.Met64Leu)
|
rs111947721
|
0.00055
|
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met)
|
rs1021523079
|
0.00055
|
NM_020458.4(TTC7A):c.974G>A (p.Arg325Gln)
|
rs144971707
|
0.00055
|
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly)
|
rs201896662
|
0.00054
|
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)
|
rs200396166
|
0.00054
|
NM_005502.4(ABCA1):c.2115+17C>T
|
rs371944946
|
0.00054
|
NM_014875.3(KIF14):c.2096G>A (p.Arg699His)
|
rs147597734
|
0.00054
|
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)
|
rs141046414
|
0.00054
|
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)
|
rs146303208
|
0.00053
|
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs)
|
rs772106076
|
0.00053
|
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)
|
rs34946978
|
0.00053
|
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala)
|
rs201735487
|
0.00053
|
NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys)
|
rs374073337
|
0.00053
|
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys)
|
rs201252375
|
0.00053
|
NM_003664.5(AP3B1):c.3131+5G>T
|
rs191616060
|
0.00053
|
NM_004970.3(IGFALS):c.1478G>A (p.Arg493His)
|
rs200380381
|
0.00053
|
NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu)
|
rs140218677
|
0.00053
|
NM_138694.4(PKHD1):c.1119-18C>G
|
rs367960459
|
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_000302.4(PLOD1):c.1584+17C>T
|
rs200962113
|
0.00052
|
NM_000875.5(IGF1R):c.3187-5C>T
|
rs45495500
|
0.00052
|
NM_001128840.3(CACNA1D):c.2812-14G>T
|
rs369180125
|
0.00052
|
NM_000082.4(ERCC8):c.175A>T (p.Met59Leu)
|
rs140343389
|
0.00051
|
NM_000521.4(HEXB):c.715G>A (p.Val239Ile)
|
rs145056714
|
0.00051
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg)
|
rs148975262
|
0.00051
|
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala)
|
rs200467041
|
0.00051
|
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu)
|
rs77937237
|
0.00051
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val)
|
rs137853911
|
0.00051
|
NM_173689.7(CRB2):c.755-12G>A
|
rs199716560
|
0.00051
|
NM_199242.3(UNC13D):c.3160A>G (p.Ile1054Val)
|
rs150952348
|
0.00051
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
NM_001005242.3(PKP2):c.1379-2109G>A
|
rs139159464
|
0.00050
|
NM_002615.7(SERPINF1):c.1076G>A (p.Arg359Gln)
|
rs144198046
|
0.00050
|
NM_021870.3(FGG):c.140C>T (p.Thr47Ile)
|
rs138511699
|
0.00050
|
NM_025074.7(FRAS1):c.7163G>A (p.Ser2388Asn)
|
rs77601278
|
0.00050
|
NM_138694.4(PKHD1):c.11507-11C>T
|
rs201478327
|
0.00050
|
NM_001139.3(ALOX12B):c.526G>A (p.Glu176Lys)
|
rs149039053
|
0.00049
|
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)
|
rs147415641
|
0.00049
|
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)
|
rs45487699
|
0.00049
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00048
|
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala)
|
rs144703247
|
0.00048
|
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile)
|
rs61749376
|
0.00048
|
NM_001267550.2(TTN):c.31763-1G>A
|
rs202234172
|
0.00048
|
NM_001291303.3(FAT4):c.13417G>A (p.Val4473Ile)
|
rs145835705
|
0.00048
|
NM_001377299.1(NDUFS2):c.1276G>T (p.Ala426Ser)
|
rs186476170
|
0.00048
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
NM_005022.4(PFN1):c.350A>G (p.Glu117Gly)
|
rs140547520
|
0.00048
|
NM_007262.5(PARK7):c.535G>A (p.Ala179Thr)
|
rs71653622
|
0.00048
|
NM_015274.3(MAN2B2):c.1766T>C (p.Ile589Thr)
|
rs148488843
|
0.00048
|
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter)
|
rs67608943
|
0.00048
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)
|
rs140714512
|
0.00047
|
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln)
|
rs137852682
|
0.00047
|
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)
|
rs3739173
|
0.00047
|
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp)
|
rs144783615
|
0.00047
|
NM_000030.3(AGXT):c.1048G>A (p.Gly350Ser)
|
rs199610919
|
0.00046
|
NM_000492.4(CFTR):c.601G>A (p.Val201Met)
|
rs138338446
|
0.00046
|
NM_000497.4(CYP11B1):c.518A>G (p.Lys173Arg)
|
rs142163070
|
0.00046
|
NM_001082971.2(DDC):c.435+6G>T
|
rs373041067
|
0.00046
|
NM_001128178.3(NPHP1):c.771+134G>A
|
rs140151060
|
0.00046
|
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)
|
rs149974794
|
0.00046
|
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg)
|
rs371943746
|
0.00046
|
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)
|
rs140842479
|
0.00046
|
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu)
|
rs147426388
|
0.00046
|
NM_001643.2(APOA2):c.121G>A (p.Val41Met)
|
rs142522492
|
0.00046
|
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu)
|
rs138158369
|
0.00046
|
NM_004369.4(COL6A3):c.3680-5C>T
|
rs370146203
|
0.00046
|
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)
|
rs148839812
|
0.00046
|
NM_012114.3(CASP14):c.719A>T (p.Tyr240Phe)
|
rs141111994
|
0.00046
|
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp)
|
rs200346497
|
0.00046
|
NM_025233.7(COASY):c.247G>T (p.Val83Phe)
|
rs115817227
|
0.00046
|
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu)
|
rs145431028
|
0.00046
|
NM_000094.4(COL7A1):c.4636G>C (p.Gly1546Arg)
|
rs73831831
|
0.00045
|
NM_000302.4(PLOD1):c.905C>A (p.Ser302Tyr)
|
rs565765056
|
0.00045
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_001098671.2(RASGRP2):c.371+7G>T
|
rs181901181
|
0.00045
|
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val)
|
rs201348580
|
0.00045
|
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser)
|
rs199917289
|
0.00045
|
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln)
|
rs139193948
|
0.00045
|
NM_015506.3(MMACHC):c.277-4C>G
|
rs199889403
|
0.00045
|
NM_020821.3(VPS13C):c.1102A>G (p.Thr368Ala)
|
rs150098264
|
0.00045
|
NM_033026.6(PCLO):c.311G>A (p.Arg104His)
|
rs201699382
|
0.00045
|
NM_000275.3(OCA2):c.1336A>G (p.Met446Val)
|
rs140566426
|
0.00044
|
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln)
|
rs146494724
|
0.00044
|
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn)
|
rs72646501
|
0.00044
|
NM_001083116.3(PRF1):c.368G>A (p.Arg123His)
|
rs139336186
|
0.00044
|
NM_001166114.2(PNPLA6):c.3914-8G>A
|
rs374861157
|
0.00044
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_020066.5(FMN2):c.575A>T (p.Gln192Leu)
|
rs150505248
|
0.00044
|
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)
|
rs200955930
|
0.00044
|
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)
|
rs184770596
|
0.00044
|
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys)
|
rs147070644
|
0.00044
|
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys)
|
rs180177290
|
0.00043
|
NM_000140.5(FECH):c.362A>G (p.Glu121Gly)
|
rs141813907
|
0.00043
|
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)
|
rs150763745
|
0.00043
|
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)
|
rs144476686
|
0.00043
|
NM_001083116.3(PRF1):c.82C>T (p.Arg28Cys)
|
rs141660796
|
0.00043
|
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln)
|
rs201622536
|
0.00043
|
NM_015202.5(KATNIP):c.4387G>A (p.Asp1463Asn)
|
rs146850516
|
0.00043
|
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met)
|
rs199644216
|
0.00043
|
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn)
|
rs148456883
|
0.00043
|
NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala)
|
rs150363383
|
0.00043
|
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln)
|
rs143639400
|
0.00043
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr)
|
rs146931108
|
0.00042
|
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu)
|
rs148225281
|
0.00042
|
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr)
|
rs75429891
|
0.00042
|
NM_001061.7(TBXAS1):c.263T>C (p.Ile88Thr)
|
rs184269562
|
0.00042
|
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr)
|
rs138262189
|
0.00042
|
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)
|
rs139145143
|
0.00042
|
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)
|
rs142486910
|
0.00042
|
NM_000045.4(ARG1):c.798A>C (p.Lys266Asn)
|
rs111253965
|
0.00041
|
NM_000053.4(ATP7B):c.1555G>A (p.Val519Met)
|
rs192957846
|
0.00041
|
NM_000144.5(FXN):c.118C>T (p.Arg40Cys)
|
rs145854903
|
0.00041
|
NM_000153.4(GALC):c.235C>T (p.Arg79Cys)
|
rs73312829
|
0.00041
|
NM_000298.6(PKLR):c.1435C>T (p.Arg479Cys)
|
rs201406712
|
0.00041
|
NM_000518.4(HBB):c.-51T>C
|
rs386134236
|
0.00041
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00041
|
NM_001017995.3(SH3PXD2B):c.1291G>A (p.Ala431Thr)
|
rs142779141
|
0.00041
|
NM_001358530.2(MOCS1):c.431G>A (p.Arg144Gln)
|
rs138822116
|
0.00041
|
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)
|
rs202111717
|
0.00041
|
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln)
|
rs150815925
|
0.00041
|
NM_003322.6(TULP1):c.1495C>T (p.Pro499Ser)
|
rs138772407
|
0.00041
|
NM_005677.4(COLQ):c.1074+4C>T
|
rs201227079
|
0.00041
|
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)
|
rs541276426
|
0.00041
|
NM_014875.3(KIF14):c.1017A>T (p.Glu339Asp)
|
rs140036867
|
0.00041
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
NM_139027.6(ADAMTS13):c.2936G>A (p.Arg979Gln)
|
rs142779872
|
0.00041
|
NM_207346.3(TSEN54):c.1313G>A (p.Arg438Gln)
|
rs200228117
|
0.00041
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln)
|
rs150710403
|
0.00040
|
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His)
|
rs748887038
|
0.00040
|
NM_001114753.3(ENG):c.-9G>A
|
rs368423516
|
0.00040
|
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)
|
rs55850344
|
0.00040
|
NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys)
|
rs144901788
|
0.00040
|
NM_138694.4(PKHD1):c.7911+19T>C
|
rs201017366
|
0.00040
|
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00039
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met)
|
rs148052192
|
0.00039
|
NM_000492.4(CFTR):c.1210-12_1210-11insG
|
rs4148705
|
0.00039
|
NM_000518.5(HBB):c.316-96G>C
|
rs193922561
|
0.00039
|
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys)
|
rs192813057
|
0.00039
|
NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val)
|
rs28383480
|
0.00039
|
NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg)
|
rs140334007
|
0.00039
|
NM_005373.3(MPL):c.1102G>T (p.Val368Leu)
|
rs149810307
|
0.00039
|
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)
|
rs370906851
|
0.00039
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
NM_139027.6(ADAMTS13):c.415-5C>T
|
rs200230025
|
0.00039
|
NM_173076.3(ABCA12):c.5747C>T (p.Thr1916Ile)
|
rs373276045
|
0.00039
|
NM_177965.4(CFAP418):c.521A>G (p.Lys174Arg)
|
rs148114532
|
0.00039
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)
|
rs756883400
|
0.00038
|
NM_000552.5(VWF):c.8084C>G (p.Pro2695Arg)
|
rs76459136
|
0.00038
|
NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr)
|
rs149871856
|
0.00038
|
NM_002185.5(IL7R):c.214G>C (p.Glu72Gln)
|
rs148001159
|
0.00038
|
NM_015175.3(NBEAL2):c.3387G>A (p.Ala1129=)
|
rs371065166
|
0.00038
|
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)
|
rs201898615
|
0.00038
|
NM_032551.5(KISS1R):c.1167C>A (p.Cys389Ter)
|
rs371771794
|
0.00038
|
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)
|
rs201346206
|
0.00038
|
NM_000525.4(KCNJ11):c.37G>A (p.Val13Met)
|
rs139079635
|
0.00037
|
NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter)
|
rs201976061
|
0.00037
|
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser)
|
rs201971114
|
0.00037
|
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met)
|
rs779248881
|
0.00037
|
NM_005876.5(SPEG):c.1649C>T (p.Pro550Leu)
|
rs747464249
|
0.00037
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_000344.4(SMN1):c.835-8C>A
|
rs200146682
|
0.00036
|
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His)
|
rs149755500
|
0.00036
|
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val)
|
rs200075429
|
0.00036
|
NM_001378615.1(CC2D2A):c.4438-9C>A
|
rs117667651
|
0.00036
|
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
NM_015404.4(WHRN):c.2417C>T (p.Pro806Leu)
|
rs149897775
|
0.00036
|
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)
|
rs200128474
|
0.00036
|
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly)
|
rs145137472
|
0.00036
|
NM_000071.3(CBS):c.1223+13G>A
|
rs533660793
|
0.00035
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)
|
rs139968089
|
0.00035
|
NM_000277.3(PAH):c.299A>G (p.His100Arg)
|
rs148393887
|
0.00035
|
NM_000303.3(PMM2):c.713G>A (p.Arg238His)
|
rs151319324
|
0.00035
|
NM_000376.3(VDR):c.1016T>C (p.Val339Ala)
|
rs187843998
|
0.00035
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
NM_000518.5(HBB):c.93G>T (p.Arg31Ser)
|
rs1135071
|
0.00035
|
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg)
|
rs201714437
|
0.00035
|
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)
|
rs200001206
|
0.00035
|
NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser)
|
rs142693704
|
0.00035
|
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)
|
rs138000380
|
0.00035
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00034
|
NM_000053.4(ATP7B):c.2448-11G>A
|
rs200450017
|
0.00034
|
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)
|
rs142352887
|
0.00034
|
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His)
|
rs150139276
|
0.00034
|
NM_001142800.2(EYS):c.3568+5T>C
|
rs539477235
|
0.00034
|
NM_001164508.2(NEB):c.71C>T (p.Pro24Leu)
|
rs185496567
|
0.00034
|
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp)
|
rs201793958
|
0.00034
|
NM_001267550.2(TTN):c.53287+6G>A
|
rs149890360
|
0.00034
|
NM_001267550.2(TTN):c.99866-10C>T
|
rs773128928
|
0.00034
|
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val)
|
rs273585625
|
0.00034
|
NM_001379610.1(SPINK1):c.198A>C (p.Lys66Asn)
|
rs143014431
|
0.00034
|
NM_016343.4(CENPF):c.6668A>G (p.Gln2223Arg)
|
rs150277836
|
0.00034
|
NM_017777.4(MKS1):c.496C>T (p.Arg166Trp)
|
rs201845154
|
0.00034
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_020365.5(EIF2B3):c.979C>T (p.Pro327Ser)
|
rs146286158
|
0.00034
|
NM_021870.3(FGG):c.124G>A (p.Gly42Ser)
|
rs202132393
|
0.00034
|
NM_021942.6(TRAPPC11):c.2851+5G>A
|
rs373713956
|
0.00034
|
NM_052989.3(IFT122):c.1553G>A (p.Arg518His)
|
rs138223055
|
0.00034
|
NM_080669.6(SLC46A1):c.1256A>G (p.Asn419Ser)
|
rs141992236
|
0.00034
|
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser)
|
rs199769508
|
0.00034
|
NM_001061.7(TBXAS1):c.734A>G (p.Asn245Ser)
|
rs55856189
|
0.00033
|
NM_001103146.3(GIGYF2):c.167A>G (p.Asn56Ser)
|
rs72554080
|
0.00033
|
NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp)
|
rs201790260
|
0.00033
|
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser)
|
rs138843691
|
0.00033
|
NM_030777.4(SLC2A10):c.1289-6C>T
|
rs199967429
|
0.00033
|
NM_033026.6(PCLO):c.8483C>T (p.Thr2828Ile)
|
rs189352647
|
0.00033
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met)
|
rs201061621
|
0.00032
|
NM_000110.4(DPYD):c.2180-11G>A
|
rs377136032
|
0.00032
|
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)
|
rs104895155
|
0.00032
|
NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr)
|
rs373165011
|
0.00032
|
NM_000518.5(HBB):c.-106G>C
|
rs63750681
|
0.00032
|
NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile)
|
rs151294087
|
0.00032
|
NM_001089.3(ABCA3):c.418A>C (p.Asn140His)
|
rs45447801
|
0.00032
|
NM_001267550.2(TTN):c.8902+16T>A
|
rs66507451
|
0.00032
|
NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile)
|
rs200568988
|
0.00032
|
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile)
|
rs373211307
|
0.00032
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_020297.4(ABCC9):c.1165-20del
|
rs768812471
|
0.00032
|
NM_022436.3(ABCG5):c.431T>C (p.Val144Ala)
|
rs376797531
|
0.00032
|
NM_183065.4(TMEM107):c.*638C>T
|
rs368022715
|
0.00032
|
NM_000110.4(DPYD):c.1358C>G (p.Pro453Arg)
|
rs144395748
|
0.00031
|
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu)
|
rs149133229
|
0.00031
|
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)
|
rs145540754
|
0.00031
|
NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met)
|
rs138325444
|
0.00031
|
NM_001035.3(RYR2):c.11092-6A>T
|
rs397516501
|
0.00031
|
NM_001039141.3(TRIOBP):c.6556G>A (p.Gly2186Ser)
|
rs191901426
|
0.00031
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr)
|
rs148615988
|
0.00031
|
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)
|
rs140664731
|
0.00031
|
NM_001378615.1(CC2D2A):c.613G>A (p.Gly205Arg)
|
rs147499316
|
0.00031
|
NM_001379451.1(BCORL1):c.3604G>A (p.Glu1202Lys)
|
rs767569401
|
0.00031
|
NM_002598.4(PDCD2):c.82C>T (p.Pro28Ser)
|
rs773036976
|
0.00031
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
NM_005045.4(RELN):c.2944A>C (p.Ile982Leu)
|
rs143972828
|
0.00031
|
NM_014946.4(SPAST):c.1735A>C (p.Asn579His)
|
rs144594804
|
0.00031
|
NM_030777.4(SLC2A10):c.746A>G (p.Asn249Ser)
|
rs531533787
|
0.00031
|
NM_078470.6(COX15):c.329C>T (p.Pro110Leu)
|
rs144644373
|
0.00031
|
NM_139076.3(ABRAXAS1):c.1011del (p.Ala338fs)
|
rs764429803
|
0.00031
|
NM_173477.5(USH1G):c.310A>G (p.Met104Val)
|
rs149529031
|
0.00031
|
NM_000022.4(ADA):c.643G>A (p.Ala215Thr)
|
rs114025668
|
0.00030
|
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)
|
rs149827260
|
0.00030
|
NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu)
|
rs201824781
|
0.00030
|
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)
|
rs12720452
|
0.00030
|
NM_000552.5(VWF):c.7025G>A (p.Arg2342His)
|
rs34120165
|
0.00030
|
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=)
|
rs138936064
|
0.00030
|
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser)
|
rs75022916
|
0.00030
|
NM_001360.3(DHCR7):c.376G>A (p.Val126Ile)
|
rs143587828
|
0.00030
|
NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser)
|
rs191172038
|
0.00030
|
NM_001379659.1(ZNF142):c.1718G>A (p.Arg573His)
|
rs139412557
|
0.00030
|
NM_024537.4(CARS2):c.563C>T (p.Thr188Met)
|
rs142034206
|
0.00030
|
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln)
|
rs61742716
|
0.00030
|
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)
|
rs141921797
|
0.00029
|
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00029
|
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)
|
rs148545569
|
0.00029
|
NM_000153.4(GALC):c.49A>G (p.Met17Val)
|
rs376662045
|
0.00029
|
NM_000155.4(GALT):c.*8G>A
|
rs370285476
|
0.00029
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_000336.3(SCNN1B):c.803A>G (p.His268Arg)
|
rs138004955
|
0.00029
|
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn)
|
rs201759207
|
0.00029
|
NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser)
|
rs145463632
|
0.00029
|
NM_001134363.3(RBM20):c.567G>T (p.Gln189His)
|
rs377623370
|
0.00029
|
NM_001148.6(ANK2):c.11009C>A (p.Thr3670Asn)
|
rs45608232
|
0.00029
|
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)
|
rs188917199
|
0.00029
|
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)
|
rs200513274
|
0.00029
|
NM_001360.3(DHCR7):c.988G>A (p.Val330Met)
|
rs139724817
|
0.00029
|
NM_001363711.2(DUOX2):c.1547G>A (p.Arg516His)
|
rs143818717
|
0.00029
|
NM_001365951.3(KIF1B):c.2115+7081C>T
|
rs376558549
|
0.00029
|
NM_001367624.2(ZNF469):c.845G>A (p.Gly282Glu)
|
rs757999676
|
0.00029
|
NM_001556.3(IKBKB):c.318+6G>T
|
rs17875678
|
0.00029
|
NM_002206.3(ITGA7):c.2035C>A (p.Leu679Met)
|
rs142326016
|
0.00029
|
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala)
|
rs377767450
|
0.00029
|
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)
|
rs149653983
|
0.00029
|
NM_014141.6(CNTNAP2):c.1879G>A (p.Val627Ile)
|
rs147447659
|
0.00029
|
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg)
|
rs201428088
|
0.00029
|
NM_017433.5(MYO3A):c.426T>G (p.His142Gln)
|
rs189595832
|
0.00029
|
NM_017777.4(MKS1):c.1414C>T (p.Arg472Cys)
|
rs181513926
|
0.00029
|
NM_152443.3(RDH12):c.869T>G (p.Val290Gly)
|
rs61740289
|
0.00029
|
NM_000027.4(AGA):c.806+3A>G
|
rs368144874
|
0.00028
|
NM_000484.4(APP):c.742G>A (p.Asp248Asn)
|
rs200103591
|
0.00028
|
NM_000527.5(LDLR):c.940+16G>A
|
rs72658859
|
0.00028
|
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)
|
rs202039659
|
0.00028
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
NM_001194998.2(CEP152):c.3839A>G (p.Asp1280Gly)
|
rs539483307
|
0.00028
|
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=)
|
rs377281121
|
0.00028
|
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)
|
rs145068530
|
0.00028
|
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg)
|
rs147346173
|
0.00028
|
NM_015275.3(WASHC4):c.2159A>G (p.Asn720Ser)
|
rs113419458
|
0.00028
|
NM_020778.5(ALPK3):c.4808T>C (p.Leu1603Pro)
|
rs145058237
|
0.00028
|
NM_030662.4(MAP2K2):c.-4C>G
|
rs747742961
|
0.00028
|
NM_032387.5(WNK4):c.1800del (p.Ala601fs)
|
rs61755595
|
0.00028
|
NM_182943.3(PLOD2):c.1451G>A (p.Arg484His)
|
rs142909885
|
0.00028
|
NM_000335.5(SCN5A):c.3837+8T>C
|
rs372405305
|
0.00027
|
NM_000518.5(HBB):c.316-19T>A
|
rs191535077
|
0.00027
|
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr)
|
rs190790872
|
0.00027
|
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met)
|
rs200248944
|
0.00027
|
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)
|
rs202012910
|
0.00027
|
NM_006129.5(BMP1):c.2075C>T (p.Ser692Phe)
|
rs201303856
|
0.00027
|
NM_006258.4(PRKG1):c.1466A>T (p.Tyr489Phe)
|
rs149710600
|
0.00027
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
NM_019892.6(INPP5E):c.875G>A (p.Arg292His)
|
rs199873582
|
0.00027
|
NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe)
|
rs148997255
|
0.00027
|
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys)
|
rs374057859
|
0.00027
|
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile)
|
rs56239539
|
0.00027
|
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)
|
rs201963516
|
0.00027
|
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)
|
rs188146577
|
0.00027
|
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala)
|
rs540292629
|
0.00026
|
NM_000057.4(BLM):c.191A>T (p.Asp64Val)
|
rs140382474
|
0.00026
|
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys)
|
rs139434755
|
0.00026
|
NM_000101.4(CYBA):c.203+5G>A
|
rs200590340
|
0.00026
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
NM_000155.4(GALT):c.253-5G>A
|
rs762136953
|
0.00026
|
NM_000512.5(GALNS):c.1482+4A>G
|
rs377407678
|
0.00026
|
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)
|
rs370053963
|
0.00026
|
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala)
|
rs150667217
|
0.00026
|
NM_001267550.2(TTN):c.38297-9T>A
|
rs199610136
|
0.00026
|
NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser)
|
rs370809363
|
0.00026
|
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)
|
rs750610895
|
0.00026
|
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro)
|
rs372541479
|
0.00026
|
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)
|
rs370771532
|
0.00026
|
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)
|
rs201213079
|
0.00026
|
NM_002693.3(POLG):c.328C>T (p.His110Tyr)
|
rs139599587
|
0.00026
|
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu)
|
rs374814563
|
0.00026
|
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser)
|
rs115246424
|
0.00026
|
NM_005559.4(LAMA1):c.1796C>T (p.Thr599Met)
|
rs148234507
|
0.00026
|
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp)
|
rs373359206
|
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_017534.6(MYH2):c.3128C>T (p.Ser1043Phe)
|
rs200217946
|
0.00026
|
NM_032415.7(CARD11):c.2276G>A (p.Arg759Gln)
|
rs148354898
|
0.00026
|
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)
|
rs189601972
|
0.00025
|
NM_000080.4(CHRNE):c.46+5G>A
|
rs375802288
|
0.00025
|
NM_000096.4(CP):c.2158C>T (p.Arg720Trp)
|
rs145784949
|
0.00025
|
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)
|
rs202051939
|
0.00025
|
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)
|
rs145229963
|
0.00025
|
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile)
|
rs1183369398
|
0.00025
|
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg)
|
rs576907642
|
0.00025
|
NM_000369.5(TSHR):c.100G>A (p.Glu34Lys)
|
rs45499704
|
0.00025
|
NM_000492.4(CFTR):c.846A>T (p.Glu282Asp)
|
rs142864834
|
0.00025
|
NM_000552.5(VWF):c.56-7C>T
|
rs374802332
|
0.00025
|
NM_000795.4(DRD2):c.191C>T (p.Ala64Val)
|
rs201137518
|
0.00025
|
NM_000823.4(GHRHR):c.29T>G (p.Val10Gly)
|
rs139599160
|
0.00025
|
NM_001365999.1(SZT2):c.2888A>G (p.Lys963Arg)
|
rs144176855
|
0.00025
|
NM_001395891.1(CLASP1):c.196-562G>A
|
rs370715569
|
0.00025
|
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)
|
rs373264436
|
0.00025
|
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter)
|
rs200390529
|
0.00025
|
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)
|
rs148205441
|
0.00025
|
NM_002691.4(POLD1):c.3257G>A (p.Arg1086Gln)
|
rs3219457
|
0.00025
|
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser)
|
rs114970039
|
0.00025
|
NM_003466.4(PAX8):c.1009T>G (p.Ser337Ala)
|
rs199939219
|
0.00025
|
NM_004366.6(CLCN2):c.246C>G (p.Phe82Leu)
|
rs140463309
|
0.00025
|
NM_014049.5(ACAD9):c.1149+5C>A
|
rs367985938
|
0.00025
|
NM_019109.5(ALG1):c.1036C>A (p.Pro346Thr)
|
rs143676440
|
0.00025
|
NM_022114.4(PRDM16):c.2666C>T (p.Pro889Leu)
|
rs201814961
|
0.00025
|
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys)
|
rs141349745
|
0.00025
|
NM_182943.3(PLOD2):c.2110G>A (p.Glu704Lys)
|
rs140079753
|
0.00025
|
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)
|
rs199766465
|
0.00025
|
NM_000055.4(BCHE):c.155C>T (p.Thr52Met)
|
rs56309853
|
0.00024
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys)
|
rs144857480
|
0.00024
|
NM_000152.5(GAA):c.1552-14C>T
|
rs199715011
|
0.00024
|
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser)
|
rs199472820
|
0.00024
|
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)
|
rs377225516
|
0.00024
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly)
|
rs199473113
|
0.00024
|
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)
|
rs61752424
|
0.00024
|
NM_000481.4(AMT):c.635T>C (p.Val212Ala)
|
rs201141125
|
0.00024
|
NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp)
|
rs151193056
|
0.00024
|
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln)
|
rs188996850
|
0.00024
|
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)
|
rs200193877
|
0.00024
|
NM_001353108.3(CEP63):c.2038C>T (p.Arg680Cys)
|
rs141217824
|
0.00024
|
NM_001365999.1(SZT2):c.9172G>A (p.Val3058Met)
|
rs143959495
|
0.00024
|
NM_001384140.1(PCDH15):c.298G>A (p.Gly100Arg)
|
rs140716525
|
0.00024
|
NM_001384474.1(LOXHD1):c.3979T>A (p.Phe1327Ile)
|
rs749667545
|
0.00024
|
NM_001851.6(COL9A1):c.1423G>A (p.Gly475Ser)
|
rs143320197
|
0.00024
|
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)
|
rs200488568
|
0.00024
|
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser)
|
rs201543030
|
0.00024
|
NM_003322.6(TULP1):c.190+6C>T
|
rs529180227
|
0.00024
|
NM_003922.4(HERC1):c.6788G>A (p.Ser2263Asn)
|
rs200964205
|
0.00024
|
NM_004004.6(GJB2):c.-127G>C
|
rs727503068
|
0.00024
|
NM_004369.4(COL6A3):c.8978G>A (p.Arg2993His)
|
rs201888442
|
0.00024
|
NM_005562.3(LAMC2):c.2014+5T>C
|
rs377208927
|
0.00024
|
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)
|
rs80357257
|
0.00024
|
NM_012062.5(DNM1L):c.305C>T (p.Thr102Met)
|
rs201929226
|
0.00024
|
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)
|
rs142053576
|
0.00024
|
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)
|
rs146584570
|
0.00024
|
NM_015627.3(LDLRAP1):c.907G>A (p.Asp303Asn)
|
rs199605881
|
0.00024
|
NM_015836.4(WARS2):c.791A>G (p.Tyr264Cys)
|
rs139194636
|
0.00024
|
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)
|
rs527421775
|
0.00024
|
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)
|
rs374852145
|
0.00024
|
NM_025137.4(SPG11):c.491C>T (p.Ser164Leu)
|
rs148175530
|
0.00024
|
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr)
|
rs149537641
|
0.00024
|
NM_170601.5(SIAE):c.1211T>C (p.Phe404Ser)
|
rs201877149
|
0.00024
|
NM_203446.3(SYNJ1):c.125-17A>G
|
rs113560074
|
0.00024
|
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)
|
rs139955975
|
0.00023
|
NM_000129.4(F13A1):c.1492G>T (p.Ala498Ser)
|
rs745888361
|
0.00023
|
NM_000152.5(GAA):c.2040+17G>A
|
rs534129336
|
0.00023
|
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)
|
rs752492870
|
0.00023
|
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn)
|
rs146810389
|
0.00023
|
NM_000552.5(VWF):c.6016G>A (p.Glu2006Lys)
|
rs140229844
|
0.00023
|
NM_001005242.3(PKP2):c.1379-2025G>A
|
rs537458442
|
0.00023
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)
|
rs201819948
|
0.00023
|
NM_001174089.2(SLC4A11):c.902C>T (p.Thr301Met)
|
rs139941321
|
0.00023
|
NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His)
|
rs199781261
|
0.00023
|
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala)
|
rs368877793
|
0.00023
|
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn)
|
rs374411782
|
0.00023
|
NM_004415.4(DSP):c.2794-4dup
|
rs397516924
|
0.00023
|
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)
|
rs541943893
|
0.00023
|
NM_015627.3(LDLRAP1):c.344+4C>T
|
rs371561646
|
0.00023
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
NM_022437.3(ABCG8):c.1648G>A (p.Ala550Thr)
|
rs149441561
|
0.00023
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)
|
rs144095826
|
0.00023
|
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)
|
rs375991767
|
0.00023
|
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser)
|
rs2235011
|
0.00022
|
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)
|
rs146243469
|
0.00022
|
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly)
|
rs68071147
|
0.00022
|
NM_000070.3(CAPN3):c.1813G>A (p.Val605Ile)
|
rs200759807
|
0.00022
|
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His)
|
rs146179135
|
0.00022
|
NM_000155.3(GALT):c.-739C>T
|
rs778861821
|
0.00022
|
NM_000301.5(PLG):c.2134G>A (p.Gly712Arg)
|
rs202074006
|
0.00022
|
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)
|
rs139486832
|
0.00022
|
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn)
|
rs142788946
|
0.00022
|
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)
|
rs142540482
|
0.00022
|
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His)
|
rs138978909
|
0.00022
|
NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr)
|
rs61752864
|
0.00022
|
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)
|
rs149542398
|
0.00022
|
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg)
|
rs144565124
|
0.00022
|
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp)
|
rs201189784
|
0.00022
|
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu)
|
rs140986055
|
0.00022
|
NM_001261826.3(AP3D1):c.3596C>T (p.Thr1199Met)
|
rs200727342
|
0.00022
|
NM_001267550.2(TTN):c.107377+14C>T
|
rs367908657
|
0.00022
|
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys)
|
rs192553687
|
0.00022
|
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn)
|
rs371759532
|
0.00022
|
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu)
|
rs201682415
|
0.00022
|
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)
|
rs201023772
|
0.00022
|
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp)
|
rs374663067
|
0.00022
|
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg)
|
rs201154998
|
0.00022
|
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln)
|
rs199615641
|
0.00022
|
NM_002615.7(SERPINF1):c.441G>C (p.Lys147Asn)
|
rs138341386
|
0.00022
|
NM_021175.4(HAMP):c.175C>G (p.Arg59Gly)
|
rs779021719
|
0.00022
|
NM_024782.3(NHEJ1):c.170G>A (p.Arg57Gln)
|
rs61753339
|
0.00022
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val)
|
rs200220848
|
0.00022
|
NM_033026.6(PCLO):c.14209C>A (p.Leu4737Ile)
|
rs199650110
|
0.00022
|
NM_054012.4(ASS1):c.-4C>T
|
rs138350285
|
0.00022
|
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu)
|
rs147933501
|
0.00022
|
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)
|
rs147351244
|
0.00022
|
NM_153603.4(COG7):c.86C>T (p.Ala29Val)
|
rs146918812
|
0.00022
|
NM_198578.4(LRRK2):c.5822G>A (p.Arg1941His)
|
rs77428810
|
0.00022
|
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu)
|
rs376494248
|
0.00021
|
NM_000051.4(ATM):c.4871A>G (p.His1624Arg)
|
rs56354559
|
0.00021
|
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr)
|
rs145812395
|
0.00021
|
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val)
|
rs199855658
|
0.00021
|
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln)
|
rs139446305
|
0.00021
|
NM_000104.4(CYP1B1):c.1102C>T (p.Arg368Cys)
|
rs72480442
|
0.00021
|
NM_000155.3(GALT):c.-121C>G
|
rs368046870
|
0.00021
|
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)
|
rs371140684
|
0.00021
|
NM_000302.4(PLOD1):c.1789C>T (p.Pro597Ser)
|
rs141692280
|
0.00021
|
NM_000388.4(CASR):c.2237C>T (p.Ala746Val)
|
rs139417576
|
0.00021
|
NM_000487.6(ARSA):c.656G>A (p.Arg219His)
|
rs148403406
|
0.00021
|
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg)
|
rs371934474
|
0.00021
|
NM_001035.3(RYR2):c.2613+4C>G
|
rs371880082
|
0.00021
|
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys)
|
rs149342980
|
0.00021
|
NM_001134407.3(GRIN2A):c.736C>A (p.Leu246Ile)
|
rs555768104
|
0.00021
|
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)
|
rs374873057
|
0.00021
|
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser)
|
rs191927501
|
0.00021
|
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp)
|
rs540161344
|
0.00021
|
NM_001378454.1(ALMS1):c.12362+17_12362+18del
|
rs768207589
|
0.00021
|
NM_002160.4(TNC):c.6494A>G (p.Gln2165Arg)
|
rs200330029
|
0.00021
|
NM_002485.5(NBN):c.786C>A (p.Phe262Leu)
|
rs372159380
|
0.00021
|
NM_003742.4(ABCB11):c.2191C>T (p.Pro731Ser)
|
rs201240844
|
0.00021
|
NM_006129.5(BMP1):c.2438C>T (p.Ala813Val)
|
rs140902180
|
0.00021
|
NM_006432.5(NPC2):c.292A>C (p.Asn98His)
|
rs142858704
|
0.00021
|
NM_006514.4(SCN10A):c.724T>A (p.Ser242Thr)
|
rs140288103
|
0.00021
|
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu)
|
rs80357147
|
0.00021
|
NM_015272.5(RPGRIP1L):c.1177G>A (p.Glu393Lys)
|
rs375776718
|
0.00021
|
NM_018993.4(RIN2):c.2398A>T (p.Ser800Cys)
|
rs368984007
|
0.00021
|
NM_030780.5(SLC25A32):c.440G>A (p.Arg147His)
|
rs142329098
|
0.00021
|
NM_033305.3(VPS13A):c.6379-19T>G
|
rs766881111
|
0.00021
|
NM_138694.4(PKHD1):c.8554+3A>G
|
rs370312392
|
0.00021
|
NM_182961.4(SYNE1):c.15202A>G (p.Lys5068Glu)
|
rs139805184
|
0.00021
|
NM_198253.3(TERT):c.3257G>A (p.Arg1086His)
|
rs200288187
|
0.00021
|
NM_199242.3(UNC13D):c.1759C>T (p.Arg587Cys)
|
rs148574729
|
0.00021
|
NR_003051.4(RMRP):n.59_60insA
|
rs1053360711
|
0.00021
|
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu)
|
rs145068043
|
0.00020
|
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)
|
rs139983160
|
0.00020
|
NM_000152.5(GAA):c.1888+10_1888+11insC
|
rs748036956
|
0.00020
|
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)
|
rs104895151
|
0.00020
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly)
|
rs145718830
|
0.00020
|
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His)
|
rs950293866
|
0.00020
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)
|
rs200831060
|
0.00020
|
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)
|
rs367720439
|
0.00020
|
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)
|
rs201831707
|
0.00020
|
NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr)
|
rs138672490
|
0.00020
|
NM_018249.6(CDK5RAP2):c.4297+5G>A
|
rs201798027
|
0.00020
|
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg)
|
rs398124359
|
0.00020
|
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu)
|
rs139547269
|
0.00020
|
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)
|
rs374362883
|
0.00020
|
NM_031471.6(FERMT3):c.1080-5C>T
|
rs143722885
|
0.00020
|
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser)
|
rs199589074
|
0.00020
|
NM_138694.4(PKHD1):c.7734-6C>A
|
rs367564272
|
0.00020
|
NM_000016.6(ACADM):c.187G>C (p.Val63Leu)
|
rs149308824
|
0.00019
|
NM_000051.4(ATM):c.2495G>A (p.Arg832His)
|
rs199875915
|
0.00019
|
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)
|
rs35962982
|
0.00019
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly)
|
rs376398239
|
0.00019
|
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn)
|
rs80358782
|
0.00019
|
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)
|
rs121912863
|
0.00019
|
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr)
|
rs149342284
|
0.00019
|
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)
|
rs143152201
|
0.00019
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala)
|
rs143321486
|
0.00019
|
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)
|
rs143347747
|
0.00019
|
NM_000196.4(HSD11B2):c.440G>A (p.Arg147His)
|
rs13306425
|
0.00019
|
NM_000251.3(MSH2):c.481G>A (p.Val161Ile)
|
rs149511545
|
0.00019
|
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr)
|
rs373946195
|
0.00019
|
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)
|
rs369195493
|
0.00019
|
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu)
|
rs45609733
|
0.00019
|
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)
|
rs146786552
|
0.00019
|
NM_000443.4(ABCB4):c.1313C>T (p.Thr438Met)
|
rs142271471
|
0.00019
|
NM_000443.4(ABCB4):c.2137G>A (p.Val713Met)
|
rs373122168
|
0.00019
|
NM_000484.4(APP):c.982C>T (p.Arg328Trp)
|
rs200978018
|
0.00019
|
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)
|
rs149279509
|
0.00019
|
NM_000492.4(CFTR):c.31G>A (p.Val11Ile)
|
rs1800072
|
0.00019
|
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)
|
rs145900055
|
0.00019
|
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys)
|
rs150691494
|
0.00019
|
NM_001083116.3(PRF1):c.563C>T (p.Pro188Leu)
|
rs150156593
|
0.00019
|
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)
|
rs201299260
|
0.00019
|
NM_001126108.2(SLC12A3):c.1709C>T (p.Ala570Val)
|
rs201130736
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_001142864.4(PIEZO1):c.3922C>G (p.Leu1308Val)
|
rs532112751
|
0.00019
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
NM_001267550.2(TTN):c.39548-8A>G
|
rs369594816
|
0.00019
|
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)
|
rs200797552
|
0.00019
|
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys)
|
rs199646089
|
0.00019
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser)
|
rs148609143
|
0.00019
|
NM_001365088.1(SLC12A6):c.1417A>G (p.Asn473Asp)
|
rs370477960
|
0.00019
|
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)
|
rs200945460
|
0.00019
|
NM_001367561.1(DOCK7):c.1585C>T (p.Leu529Phe)
|
rs142744313
|
0.00019
|
NM_001367624.2(ZNF469):c.9214G>A (p.Gly3072Ser)
|
rs557364171
|
0.00019
|
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg)
|
rs539112266
|
0.00019
|
NM_001378615.1(CC2D2A):c.2197G>A (p.Gly733Arg)
|
rs372259202
|
0.00019
|
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile)
|
rs369387744
|
0.00019
|
NM_001710.6(CFB):c.1407C>G (p.Ile469Met)
|
rs201798809
|
0.00019
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
NM_002103.5(GYS1):c.1890G>A (p.Ala630=)
|
rs142457302
|
0.00019
|
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp)
|
rs727503234
|
0.00019
|
NM_002485.5(NBN):c.37+6G>A
|
rs540868733
|
0.00019
|
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)
|
rs374746113
|
0.00019
|
NM_003632.3(CNTNAP1):c.2703G>A (p.Met901Ile)
|
rs146094809
|
0.00019
|
NM_003849.4(SUCLG1):c.101C>T (p.Pro34Leu)
|
rs149809280
|
0.00019
|
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys)
|
rs370093129
|
0.00019
|
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp)
|
rs386833960
|
0.00019
|
NM_005559.4(LAMA1):c.8447G>A (p.Arg2816Gln)
|
rs200996196
|
0.00019
|
NM_006129.5(BMP1):c.239G>A (p.Arg80His)
|
rs73549580
|
0.00019
|
NM_006623.4(PHGDH):c.1258G>A (p.Glu420Lys)
|
rs140979375
|
0.00019
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg)
|
rs80357436
|
0.00019
|
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr)
|
rs138958351
|
0.00019
|
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys)
|
rs200067423
|
0.00019
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
NM_020631.6(PLEKHG5):c.2575C>T (p.Arg859Cys)
|
rs150666859
|
0.00019
|
NM_022437.3(ABCG8):c.1753A>T (p.Thr585Ser)
|
rs371166792
|
0.00019
|
NM_030777.4(SLC2A10):c.781G>A (p.Val261Ile)
|
rs372561968
|
0.00019
|
NM_054012.4(ASS1):c.299G>A (p.Arg100His)
|
rs138279074
|
0.00019
|
NM_133378.4(TTN):c.19928-7C>T
|
rs771244164
|
0.00019
|
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)
|
rs121908253
|
0.00019
|
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met)
|
rs115282699
|
0.00019
|
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro)
|
rs148407223
|
0.00019
|
NM_198129.4(LAMA3):c.5780C>T (p.Thr1927Ile)
|
rs146039146
|
0.00019
|
NM_199242.3(UNC13D):c.3145C>G (p.Pro1049Ala)
|
rs750743318
|
0.00019
|
NM_203446.3(SYNJ1):c.3580G>C (p.Ala1194Pro)
|
rs77164494
|
0.00019
|
NM_213599.3(ANO5):c.797C>T (p.Pro266Leu)
|
rs745908606
|
0.00019
|
NM_000038.6(APC):c.6637A>G (p.Met2213Val)
|
rs186926737
|
0.00018
|
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)
|
rs757549770
|
0.00018
|
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)
|
rs776625874
|
0.00018
|
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met)
|
rs199473333
|
0.00018
|
NM_000370.3(TTPA):c.204+6C>T
|
rs574780098
|
0.00018
|
NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu)
|
rs199662246
|
0.00018
|
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg)
|
rs143501870
|
0.00018
|
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser)
|
rs188598190
|
0.00018
|
NM_000552.5(VWF):c.5014G>A (p.Gly1672Arg)
|
rs61750598
|
0.00018
|
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)
|
rs372304158
|
0.00018
|
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp)
|
rs201991864
|
0.00018
|
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)
|
rs373491468
|
0.00018
|
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala)
|
rs201922910
|
0.00018
|
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp)
|
rs200728232
|
0.00018
|
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)
|
rs200775919
|
0.00018
|
NM_001378454.1(ALMS1):c.649A>G (p.Ile217Val)
|
rs200944504
|
0.00018
|
NM_001379500.1(COL18A1):c.3133G>A (p.Glu1045Lys)
|
rs200427354
|
0.00018
|
NM_002273.4(KRT8):c.1392G>T (p.Lys464Asn)
|
rs201507031
|
0.00018
|
NM_002335.4(LRP5):c.4049T>G (p.Leu1350Arg)
|
rs531205284
|
0.00018
|
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)
|
rs587780091
|
0.00018
|
NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu)
|
rs201200122
|
0.00018
|
NM_003560.4(PLA2G6):c.1835G>T (p.Arg612Leu)
|
rs200117092
|
0.00018
|
NM_004260.4(RECQL4):c.1697T>C (p.Leu566Pro)
|
rs201648505
|
0.00018
|
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)
|
rs369697947
|
0.00018
|
NM_020117.11(LARS1):c.1501G>A (p.Ala501Thr)
|
rs139960441
|
0.00018
|
NM_021098.3(CACNA1H):c.4120G>A (p.Val1374Met)
|
rs201855332
|
0.00018
|
NM_025074.7(FRAS1):c.3963G>C (p.Lys1321Asn)
|
rs370629874
|
0.00018
|
NM_030662.4(MAP2K2):c.919+10G>A
|
rs780890887
|
0.00018
|
NM_032040.5(CCDC8):c.1605A>C (p.Glu535Asp)
|
rs146060947
|
0.00018
|
NM_053025.4(MYLK):c.1612C>T (p.Arg538Trp)
|
rs55672414
|
0.00018
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
NM_000051.4(ATM):c.7552C>T (p.Pro2518Ser)
|
rs374876799
|
0.00017
|
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met)
|
rs200125037
|
0.00017
|
NM_000152.5(GAA):c.1320G>T (p.Met440Ile)
|
rs550837627
|
0.00017
|
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe)
|
rs187833337
|
0.00017
|
NM_000372.5(TYR):c.915C>A (p.Asp305Glu)
|
rs142170797
|
0.00017
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
NM_000553.6(WRN):c.2114C>T (p.Thr705Ile)
|
rs141563618
|
0.00017
|
NM_000747.3(CHRNB1):c.725G>A (p.Arg242His)
|
rs79220301
|
0.00017
|
NM_001267550.2(TTN):c.106349C>G (p.Thr35450Ser)
|
rs371022420
|
0.00017
|
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys)
|
rs148018042
|
0.00017
|
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val)
|
rs370644359
|
0.00017
|
NM_001267550.2(TTN):c.65575+10T>C
|
rs72646864
|
0.00017
|
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)
|
rs200586877
|
0.00017
|
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg)
|
rs727503147
|
0.00017
|
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)
|
rs199557190
|
0.00017
|
NM_003630.3(PEX3):c.456+3A>G
|
rs113147921
|
0.00017
|
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys)
|
rs201664019
|
0.00017
|
NM_005633.4(SOS1):c.3347-1G>A
|
rs141565234
|
0.00017
|
NM_005732.4(RAD50):c.2903G>A (p.Gly968Glu)
|
rs199895166
|
0.00017
|
NM_015275.3(WASHC4):c.3286G>A (p.Ala1096Thr)
|
rs113168943
|
0.00017
|
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
|
rs371753672
|
0.00017
|
NM_015627.3(LDLRAP1):c.850G>A (p.Ala284Thr)
|
rs144622500
|
0.00017
|
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile)
|
rs139808557
|
0.00017
|
NM_019098.5(CNGB3):c.1178+6T>C
|
rs151236891
|
0.00017
|
NM_021098.3(CACNA1H):c.2542G>A (p.Gly848Ser)
|
rs374272094
|
0.00017
|
NM_024334.3(TMEM43):c.361A>G (p.Met121Val)
|
rs369878538
|
0.00017
|
NM_025137.4(SPG11):c.667+5C>T
|
rs375485062
|
0.00017
|
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile)
|
rs146158125
|
0.00017
|
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys)
|
rs140804406
|
0.00017
|
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)
|
rs143026267
|
0.00017
|
NM_000051.4(ATM):c.2848C>T (p.Leu950Phe)
|
rs763064034
|
0.00016
|
NM_000057.4(BLM):c.3751+10C>T
|
rs199685140
|
0.00016
|
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val)
|
rs373291490
|
0.00016
|
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys)
|
rs2229820
|
0.00016
|
NM_000104.4(CYP1B1):c.487C>T (p.Arg163Cys)
|
rs104894978
|
0.00016
|
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr)
|
rs140890215
|
0.00016
|
NM_000146.4(FTL):c.169G>A (p.Glu57Lys)
|
rs201241191
|
0.00016
|
NM_000157.4(GBA1):c.535G>C (p.Asp179His)
|
rs147138516
|
0.00016
|
NM_000237.3(LPL):c.1325T>G (p.Val442Gly)
|
rs116403115
|
0.00016
|
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)
|
rs192378817
|
0.00016
|
NM_000275.3(OCA2):c.1239+5G>C
|
rs757119713
|
0.00016
|
NM_000326.5(RLBP1):c.925C>T (p.Gln309Ter)
|
rs769666232
|
0.00016
|
NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp)
|
rs376901046
|
0.00016
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)
|
rs375968016
|
0.00016
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
NM_000552.5(VWF):c.2071C>A (p.Pro691Thr)
|
rs199623726
|
0.00016
|
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val)
|
rs150923481
|
0.00016
|
NM_000552.5(VWF):c.7433G>A (p.Arg2478Gln)
|
rs111752224
|
0.00016
|
NM_000557.5(GDF5):c.241G>A (p.Gly81Arg)
|
rs148658511
|
0.00016
|
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)
|
rs199583774
|
0.00016
|
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val)
|
rs145129959
|
0.00016
|
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)
|
rs547005691
|
0.00016
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)
|
rs200420897
|
0.00016
|
NM_001042545.2(LTBP4):c.3268G>A (p.Ala1090Thr)
|
rs372105249
|
0.00016
|
NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys)
|
rs147480076
|
0.00016
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
0.00016
|
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)
|
rs143059463
|
0.00016
|
NM_001134363.3(RBM20):c.2547T>A (p.Asn849Lys)
|
rs562882648
|
0.00016
|
NM_001134363.3(RBM20):c.761C>T (p.Ser254Leu)
|
rs766868824
|
0.00016
|
NM_001148.6(ANK2):c.11032+19A>G
|
rs200769962
|
0.00016
|
NM_001174089.2(SLC4A11):c.1700G>A (p.Gly567Asp)
|
rs139078082
|
0.00016
|
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp)
|
rs202182978
|
0.00016
|
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys)
|
rs543102139
|
0.00016
|
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His)
|
rs115867512
|
0.00016
|
NM_001267550.2(TTN):c.60734G>A (p.Arg20245Gln)
|
rs575837567
|
0.00016
|
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln)
|
rs148684589
|
0.00016
|
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln)
|
rs141965360
|
0.00016
|
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser)
|
rs776256093
|
0.00016
|
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro)
|
rs201091376
|
0.00016
|
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His)
|
rs202001776
|
0.00016
|
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His)
|
rs575939045
|
0.00016
|
NM_001384474.1(LOXHD1):c.3371G>A (p.Arg1124His)
|
rs762111513
|
0.00016
|
NM_001385875.1(ZFYVE27):c.149A>G (p.Tyr50Cys)
|
rs199548555
|
0.00016
|
NM_001395413.1(POR):c.841C>A (p.Pro281Thr)
|
rs72557937
|
0.00016
|
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg)
|
rs201058867
|
0.00016
|
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)
|
rs146403088
|
0.00016
|
NM_004341.5(CAD):c.1984G>A (p.Val662Ile)
|
rs147722428
|
0.00016
|
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln)
|
rs367630003
|
0.00016
|
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser)
|
rs145650440
|
0.00016
|
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)
|
rs200476515
|
0.00016
|
NM_004614.5(TK2):c.548G>A (p.Arg183Gln)
|
rs780333412
|
0.00016
|
NM_005458.8(GABBR2):c.1364C>A (p.Thr455Asn)
|
rs373607825
|
0.00016
|
NM_005562.3(LAMC2):c.503+6T>C
|
rs375623003
|
0.00016
|
NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly)
|
rs774277300
|
0.00016
|
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr)
|
rs727504636
|
0.00016
|
NM_006567.5(FARS2):c.1268G>A (p.Arg423Gln)
|
rs148921184
|
0.00016
|
NM_006767.4(LZTR1):c.1517C>T (p.Pro506Leu)
|
rs763950976
|
0.00016
|
NM_006796.3(AFG3L2):c.536A>G (p.Tyr179Cys)
|
rs368594369
|
0.00016
|
NM_006883.2(SHOX):c.-432-3C>A
|
rs1030279647
|
0.00016
|
NM_014244.5(ADAMTS2):c.1629+6G>A
|
rs377268307
|
0.00016
|
NM_014780.5(CUL7):c.2693C>G (p.Ser898Trp)
|
rs141829168
|
0.00016
|
NM_015175.3(NBEAL2):c.1613G>A (p.Arg538His)
|
rs368310677
|
0.00016
|
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp)
|
rs185873402
|
0.00016
|
NM_017547.4(FOXRED1):c.920G>A (p.Gly307Glu)
|
rs145888229
|
0.00016
|
NM_018127.7(ELAC2):c.2375C>T (p.Ala792Val)
|
rs767378629
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val)
|
rs144037310
|
0.00016
|
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter)
|
rs138846118
|
0.00016
|
NM_021625.5(TRPV4):c.956C>T (p.Ser319Leu)
|
rs377518118
|
0.00016
|
NM_025137.4(SPG11):c.6878G>A (p.Arg2293Gln)
|
rs201721414
|
0.00016
|
NM_033118.4(MYLK2):c.157G>A (p.Asp53Asn)
|
rs200204126
|
0.00016
|
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met)
|
rs201076557
|
0.00016
|
NM_139076.3(ABRAXAS1):c.272A>T (p.Asn91Ile)
|
rs767146349
|
0.00016
|
NM_144670.6(A2ML1):c.3824C>T (p.Thr1275Ile)
|
rs368114048
|
0.00016
|
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile)
|
rs139418842
|
0.00016
|
NM_145207.3(AFG2A):c.1912A>G (p.Lys638Glu)
|
rs560475969
|
0.00016
|
NM_000051.4(ATM):c.2887A>G (p.Met963Val)
|
rs374353016
|
0.00015
|
NM_000051.4(ATM):c.7244C>G (p.Ala2415Gly)
|
rs370567994
|
0.00015
|
NM_000059.4(BRCA2):c.2813C>A (p.Ala938Glu)
|
rs55773834
|
0.00015
|
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)
|
rs747026964
|
0.00015
|
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala)
|
rs376144196
|
0.00015
|
NM_000235.4(LIPA):c.966+3A>T
|
rs201242614
|
0.00015
|
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)
|
rs140754514
|
0.00015
|
NM_000312.4(PROC):c.703A>C (p.Lys235Gln)
|
rs370086431
|
0.00015
|
NM_000383.4(AIRE):c.1312G>A (p.Gly438Arg)
|
rs553396434
|
0.00015
|
NM_000388.4(CASR):c.757C>A (p.Gln253Lys)
|
rs202179597
|
0.00015
|
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys)
|
rs138587317
|
0.00015
|
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
NM_000552.5(VWF):c.2344C>T (p.Arg782Trp)
|
rs61748471
|
0.00015
|
NM_000552.5(VWF):c.7730-4C>G
|
rs71581030
|
0.00015
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
NM_001080.3(ALDH5A1):c.1316C>T (p.Thr439Ile)
|
rs139633130
|
0.00015
|
NM_001083116.3(PRF1):c.674G>A (p.Arg225Gln)
|
rs140281371
|
0.00015
|
NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter)
|
rs199475953
|
0.00015
|
NM_001256007.3(PNPLA8):c.587T>C (p.Ile196Thr)
|
rs147092803
|
0.00015
|
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)
|
rs115150240
|
0.00015
|
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro)
|
rs780405420
|
0.00015
|
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)
|
rs200355367
|
0.00015
|
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu)
|
rs200132226
|
0.00015
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
NM_001369268.1(ACAN):c.1948G>A (p.Val650Met)
|
rs201414869
|
0.00015
|
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys)
|
rs200293447
|
0.00015
|
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)
|
rs199604280
|
0.00015
|
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp)
|
rs730880478
|
0.00015
|
NM_002474.3(MYH11):c.1749+4C>G
|
rs776271431
|
0.00015
|
NM_003238.6(TGFB2):c.199G>A (p.Val67Met)
|
rs201761868
|
0.00015
|
NM_003647.3(DGKE):c.713G>A (p.Gly238Glu)
|
rs201154049
|
0.00015
|
NM_003919.3(SGCE):c.391A>G (p.Ile131Val)
|
rs370609227
|
0.00015
|
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)
|
rs111033194
|
0.00015
|
NM_004369.4(COL6A3):c.6749C>T (p.Pro2250Leu)
|
rs140728855
|
0.00015
|
NM_006182.4(DDR2):c.932G>A (p.Ser311Asn)
|
rs189870832
|
0.00015
|
NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly)
|
rs370890802
|
0.00015
|
NM_015459.5(ATL3):c.580C>T (p.Arg194Cys)
|
rs372986534
|
0.00015
|
NM_017757.3(ZNF407):c.1526C>T (p.Pro509Leu)
|
rs376677482
|
0.00015
|
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser)
|
rs142867987
|
0.00015
|
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)
|
rs201393026
|
0.00015
|
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr)
|
rs147054690
|
0.00015
|
NM_144670.6(A2ML1):c.565C>T (p.Pro189Ser)
|
rs780009431
|
0.00015
|
NM_207034.3(EDN3):c.554C>T (p.Thr185Met)
|
rs368327225
|
0.00015
|
NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp)
|
rs147165460
|
0.00015
|
NM_000022.4(ADA):c.591T>A (p.His197Gln)
|
rs142456343
|
0.00014
|
NM_000049.4(ASPA):c.427A>G (p.Ile143Val)
|
rs199565861
|
0.00014
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala)
|
rs142455912
|
0.00014
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00014
|
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val)
|
rs200642204
|
0.00014
|
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe)
|
rs200563529
|
0.00014
|
NM_000057.4(BLM):c.842A>C (p.His281Pro)
|
rs202042636
|
0.00014
|
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)
|
rs28933673
|
0.00014
|
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
|
rs191989961
|
0.00014
|
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu)
|
rs377272529
|
0.00014
|
NM_000142.5(FGFR3):c.158G>C (p.Ser53Thr)
|
rs201433984
|
0.00014
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
NM_000155.4(GALT):c.1132A>G (p.Ile378Val)
|
rs111033819
|
0.00014
|
NM_000155.4(GALT):c.688-4C>T
|
rs374014228
|
0.00014
|
NM_000243.3(MEFV):c.1502G>A (p.Arg501His)
|
rs104895196
|
0.00014
|
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)
|
rs377403073
|
0.00014
|
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp)
|
rs11553676
|
0.00014
|
NM_000344.4(SMN1):c.864G>T (p.Arg288Ser)
|
rs368899583
|
0.00014
|
NM_000348.4(SRD5A2):c.702C>G (p.Phe234Leu)
|
rs9332966
|
0.00014
|
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)
|
rs121909207
|
0.00014
|
NM_000400.4(ERCC2):c.2083C>T (p.Arg695Cys)
|
rs201392911
|
0.00014
|
NM_000419.5(ITGA2B):c.408+16C>T
|
rs377288289
|
0.00014
|
NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala)
|
rs267607353
|
0.00014
|
NM_000552.5(VWF):c.6965A>T (p.Glu2322Val)
|
rs201792015
|
0.00014
|
NM_001025295.3(IFITM5):c.68C>T (p.Ala23Val)
|
rs552104680
|
0.00014
|
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)
|
rs200070226
|
0.00014
|
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn)
|
rs199750975
|
0.00014
|
NM_001244710.2(GFPT1):c.716G>A (p.Arg239Gln)
|
rs555854564
|
0.00014
|
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)
|
rs376634193
|
0.00014
|
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)
|
rs397517478
|
0.00014
|
NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met)
|
rs371455094
|
0.00014
|
NM_001267550.2(TTN):c.21962-6C>T
|
rs374870814
|
0.00014
|
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu)
|
rs184815126
|
0.00014
|
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)
|
rs201541213
|
0.00014
|
NM_001267550.2(TTN):c.86002A>G (p.Ile28668Val)
|
rs72648225
|
0.00014
|
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu)
|
rs146199720
|
0.00014
|
NM_001267550.2(TTN):c.97436G>A (p.Arg32479His)
|
rs369845358
|
0.00014
|
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys)
|
rs377599569
|
0.00014
|
NM_001267550.2(TTN):c.9795A>C (p.Arg3265Ser)
|
rs141708467
|
0.00014
|
NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp)
|
rs766496010
|
0.00014
|
NM_001369268.1(ACAN):c.2203G>A (p.Glu735Lys)
|
rs202060628
|
0.00014
|
NM_001369369.1(FOXN1):c.1749del (p.Cys586fs)
|
rs773519376
|
0.00014
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys)
|
rs199842209
|
0.00014
|
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr)
|
rs755855285
|
0.00014
|
NM_002335.4(LRP5):c.1199C>T (p.Ala400Val)
|
rs201320326
|
0.00014
|
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser)
|
rs150415679
|
0.00014
|
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys)
|
rs376682837
|
0.00014
|
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg)
|
rs141440715
|
0.00014
|
NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala)
|
rs766925398
|
0.00014
|
NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys)
|
rs786205846
|
0.00014
|
NM_003937.3(KYNU):c.291-7A>G
|
rs369879960
|
0.00014
|
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)
|
rs201004645
|
0.00014
|
NM_004239.4(TRIP11):c.5719+2T>C
|
rs199736345
|
0.00014
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
NM_004415.4(DSP):c.521G>T (p.Cys174Phe)
|
rs377507763
|
0.00014
|
NM_004415.4(DSP):c.889G>A (p.Asp297Asn)
|
rs201930322
|
0.00014
|
NM_005188.4(CBL):c.2513G>T (p.Gly838Val)
|
rs144191570
|
0.00014
|
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn)
|
rs138800446
|
0.00014
|
NM_005732.4(RAD50):c.259C>T (p.Arg87Cys)
|
rs143802516
|
0.00014
|
NM_007194.4(CHEK2):c.-4C>T
|
rs374938148
|
0.00014
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
NM_015158.5(KANK1):c.151G>A (p.Asp51Asn)
|
rs201262082
|
0.00014
|
NM_015957.4(APIP):c.-95G>C
|
rs538595954
|
0.00014
|
NM_022081.6(HPS4):c.1621A>G (p.Met541Val)
|
rs202104505
|
0.00014
|
NM_032119.4(ADGRV1):c.8585A>G (p.Tyr2862Cys)
|
rs876657827
|
0.00014
|
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp)
|
rs141597706
|
0.00014
|
NM_032730.5(RTN4IP1):c.415C>T (p.Pro139Ser)
|
rs148788441
|
0.00014
|
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp)
|
rs151294221
|
0.00014
|
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)
|
rs149331537
|
0.00014
|
NM_138422.4(ADAT3):c.988G>A (p.Asp330Asn)
|
rs202206209
|
0.00014
|
NM_139027.6(ADAMTS13):c.539+7G>A
|
rs184864675
|
0.00014
|
NM_176787.5(PIGN):c.2750C>T (p.Thr917Met)
|
rs61755364
|
0.00014
|
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe)
|
rs200142963
|
0.00014
|
NM_182760.4(SUMF1):c.875A>G (p.Tyr292Cys)
|
rs148841895
|
0.00014
|
NM_182943.3(PLOD2):c.1128G>A (p.Met376Ile)
|
rs202241126
|
0.00014
|
NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln)
|
rs149042169
|
0.00014
|
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg)
|
rs118204430
|
0.00013
|
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)
|
rs145078268
|
0.00013
|
NM_000051.4(ATM):c.131A>G (p.Asp44Gly)
|
rs150143957
|
0.00013
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile)
|
rs202196488
|
0.00013
|
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg)
|
rs142243359
|
0.00013
|
NM_000059.4(BRCA2):c.68-3T>G
|
rs786201770
|
0.00013
|
NM_000071.3(CBS):c.670C>T (p.Arg224Cys)
|
rs139456571
|
0.00013
|
NM_000123.4(ERCC5):c.739A>G (p.Ile247Val)
|
rs200504271
|
0.00013
|
NM_000155.4(GALT):c.507+12C>T
|
rs199572263
|
0.00013
|
NM_000180.4(GUCY2D):c.1979G>A (p.Arg660Gln)
|
rs61750162
|
0.00013
|
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)
|
rs199472776
|
0.00013
|
NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp)
|
rs199473022
|
0.00013
|
NM_000277.3(PAH):c.65C>A (p.Thr22Lys)
|
rs199565868
|
0.00013
|
NM_000302.4(PLOD1):c.975+14G>A
|
rs371184529
|
0.00013
|
NM_000314.6(PTEN):c.-859A>G
|
rs876661029
|
0.00013
|
NM_000335.5(SCN5A):c.1891-8G>A
|
rs12720064
|
0.00013
|
NM_000431.4(MVK):c.877G>A (p.Val293Met)
|
rs104895356
|
0.00013
|
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser)
|
rs138593305
|
0.00013
|
NM_000492.4(CFTR):c.1679+16T>C
|
rs397508262
|
0.00013
|
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln)
|
rs397508395
|
0.00013
|
NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln)
|
rs147515913
|
0.00013
|
NM_000552.5(VWF):c.1870G>A (p.Gly624Ser)
|
rs542226383
|
0.00013
|
NM_000719.7(CACNA1C):c.6034C>T (p.Arg2012Trp)
|
rs553500083
|
0.00013
|
NM_000747.3(CHRNB1):c.167T>C (p.Val56Ala)
|
rs759668768
|
0.00013
|
NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys)
|
rs148355179
|
0.00013
|
NM_001018115.3(FANCD2):c.2976+6T>C
|
rs201875004
|
0.00013
|
NM_001040616.3(LINS1):c.134C>T (p.Thr45Ile)
|
rs144575104
|
0.00013
|
NM_001042492.3(NF1):c.2032C>G (p.Pro678Ala)
|
rs758691069
|
0.00013
|
NM_001042545.2(LTBP4):c.2176G>C (p.Glu726Gln)
|
rs199691160
|
0.00013
|
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)
|
rs780163791
|
0.00013
|
NM_001142800.2(EYS):c.5038A>G (p.Asn1680Asp)
|
rs540546920
|
0.00013
|
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr)
|
rs183589498
|
0.00013
|
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg)
|
rs371568550
|
0.00013
|
NM_001164508.2(NEB):c.2639G>A (p.Arg880His)
|
rs202026890
|
0.00013
|
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)
|
rs397517783
|
0.00013
|
NM_001267550.2(TTN):c.10115-4G>A
|
rs367648529
|
0.00013
|
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu)
|
rs199778910
|
0.00013
|
NM_001267550.2(TTN):c.62534C>G (p.Thr20845Arg)
|
rs727505316
|
0.00013
|
NM_001267550.2(TTN):c.62681G>T (p.Cys20894Phe)
|
rs370080086
|
0.00013
|
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)
|
rs375693396
|
0.00013
|
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)
|
rs72648240
|
0.00013
|
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)
|
rs139364109
|
0.00013
|
NM_001365999.1(SZT2):c.2228A>G (p.His743Arg)
|
rs545593466
|
0.00013
|
NM_001367624.2(ZNF469):c.10889G>A (p.Arg3630His)
|
rs758123475
|
0.00013
|
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln)
|
rs200378498
|
0.00013
|
NM_001378454.1(ALMS1):c.646+15T>G
|
rs200821435
|
0.00013
|
NM_001943.5(DSG2):c.45+9C>G
|
rs376573409
|
0.00013
|
NM_002471.4(MYH6):c.2383C>T (p.Arg795Trp)
|
rs202120238
|
0.00013
|
NM_002485.5(NBN):c.1124+6G>T
|
rs375862750
|
0.00013
|
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe)
|
rs199517389
|
0.00013
|
NM_004006.3(DMD):c.357+5G>A
|
rs778431187
|
0.00013
|
NM_004408.4(DNM1):c.849+6C>T
|
rs527412689
|
0.00013
|
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)
|
rs111368396
|
0.00013
|
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00013
|
NM_004646.4(NPHS1):c.2591G>A (p.Arg864His)
|
rs143986233
|
0.00013
|
NM_005045.4(RELN):c.5398C>G (p.Leu1800Val)
|
rs150148125
|
0.00013
|
NM_005585.5(SMAD6):c.194C>G (p.Pro65Arg)
|
rs990598927
|
0.00013
|
NM_006904.7(PRKDC):c.11591G>A (p.Arg3864His)
|
rs373169292
|
0.00013
|
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg)
|
rs141870580
|
0.00013
|
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu)
|
rs41293451
|
0.00013
|
NM_014639.4(SKIC3):c.4514T>C (p.Leu1505Ser)
|
rs376720108
|
0.00013
|
NM_014855.3(AP5Z1):c.2287G>A (p.Val763Met)
|
rs147369435
|
0.00013
|
NM_018112.3(TMEM38B):c.836C>A (p.Ser279Ter)
|
rs140344242
|
0.00013
|
NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile)
|
rs201379287
|
0.00013
|
NM_022124.6(CDH23):c.5187G>A (p.Thr1729=)
|
rs376386945
|
0.00013
|
NM_022437.3(ABCG8):c.275G>A (p.Ser92Asn)
|
rs372921526
|
0.00013
|
NM_023110.3(FGFR1):c.241A>G (p.Ile81Val)
|
rs201574031
|
0.00013
|
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp)
|
rs368082152
|
0.00013
|
NM_025074.7(FRAS1):c.5039G>A (p.Arg1680Gln)
|
rs201110914
|
0.00013
|
NM_058004.4(PI4KA):c.4666G>A (p.Val1556Met)
|
rs144363917
|
0.00013
|
NM_080911.3(UNG):c.593A>G (p.His198Arg)
|
rs201388456
|
0.00013
|
NM_130837.3(OPA1):c.344C>T (p.Ala115Val)
|
rs200983556
|
0.00013
|
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val)
|
rs142146981
|
0.00013
|
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu)
|
rs199624315
|
0.00013
|
NM_174936.4(PCSK9):c.1495C>T (p.Arg499Cys)
|
rs201395805
|
0.00013
|
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln)
|
rs747390615
|
0.00013
|
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp)
|
rs140184929
|
0.00013
|
NM_000051.4(ATM):c.3628A>G (p.Met1210Val)
|
rs138212452
|
0.00012
|
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)
|
rs145667735
|
0.00012
|
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe)
|
rs377595814
|
0.00012
|
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)
|
rs199773340
|
0.00012
|
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)
|
rs139610577
|
0.00012
|
NM_000104.4(CYP1B1):c.1033C>T (p.Leu345Phe)
|
rs66583685
|
0.00012
|
NM_000132.4(F8):c.222G>A (p.Thr74=)
|
rs1232517683
|
0.00012
|
NM_000135.4(FANCA):c.1640C>T (p.Ala547Val)
|
rs550821697
|
0.00012
|
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys)
|
rs556748657
|
0.00012
|
NM_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)
|
rs587782651
|
0.00012
|
NM_000293.3(PHKB):c.1741G>A (p.Asp581Asn)
|
rs202127217
|
0.00012
|
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
|
rs121909298
|
0.00012
|
NM_000382.3(ALDH3A2):c.128C>T (p.Thr43Met)
|
rs112971072
|
0.00012
|
NM_000426.4(LAMA2):c.4993G>A (p.Gly1665Arg)
|
rs373997222
|
0.00012
|
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)
|
rs371107552
|
0.00012
|
NM_000517.6(HBA2):c.409C>A (p.Leu137Met)
|
rs41364652
|
0.00012
|
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser)
|
rs369117208
|
0.00012
|
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met)
|
rs148134639
|
0.00012
|
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val)
|
rs528213425
|
0.00012
|
NM_001042492.3(NF1):c.2191C>T (p.Leu731Phe)
|
rs185204667
|
0.00012
|
NM_001164508.2(NEB):c.10735C>G (p.Leu3579Val)
|
rs149384863
|
0.00012
|
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)
|
rs560537668
|
0.00012
|
NM_001267550.2(TTN):c.1943G>C (p.Arg648Thr)
|
rs550441902
|
0.00012
|
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg)
|
rs184713215
|
0.00012
|
NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro)
|
rs115303497
|
0.00012
|
NM_001267550.2(TTN):c.43244G>A (p.Ser14415Asn)
|
rs370342831
|
0.00012
|
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)
|
rs375676529
|
0.00012
|
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln)
|
rs370890454
|
0.00012
|
NM_001267550.2(TTN):c.80160T>G (p.Ile26720Met)
|
rs376363284
|
0.00012
|
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)
|
rs368443217
|
0.00012
|
NM_001349253.2(SCN11A):c.4282G>A (p.Gly1428Ser)
|
rs201336927
|
0.00012
|
NM_001349253.2(SCN11A):c.712C>T (p.Arg238Cys)
|
rs146942592
|
0.00012
|
NM_001365308.1(BMPER):c.1792T>C (p.Tyr598His)
|
rs570211162
|
0.00012
|
NM_001369268.1(ACAN):c.1975C>G (p.Gln659Glu)
|
rs181923062
|
0.00012
|
NM_001377.3(DYNC2H1):c.12268G>A (p.Val4090Ile)
|
rs376545196
|
0.00012
|
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser)
|
rs187887110
|
0.00012
|
NM_001852.4(COL9A2):c.217C>T (p.Pro73Ser)
|
rs375150574
|
0.00012
|
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile)
|
rs369925361
|
0.00012
|
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser)
|
rs368614463
|
0.00012
|
NM_003332.4(TYROBP):c.310G>A (p.Asp104Asn)
|
rs377005575
|
0.00012
|
NM_003573.2(LTBP4):c.25T>C (p.Phe9Leu)
|
rs769281501
|
0.00012
|
NM_003673.4(TCAP):c.209G>A (p.Arg70Gln)
|
rs552865793
|
0.00012
|
NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys)
|
rs539087982
|
0.00012
|
NM_004168.4(SDHA):c.205G>A (p.Ala69Thr)
|
rs370481102
|
0.00012
|
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn)
|
rs143727462
|
0.00012
|
NM_004369.4(COL6A3):c.2525T>C (p.Phe842Ser)
|
rs369930821
|
0.00012
|
NM_004415.4(DSP):c.2134G>A (p.Val712Met)
|
rs397516922
|
0.00012
|
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu)
|
rs146705974
|
0.00012
|
NM_005199.5(CHRNG):c.1421G>A (p.Arg474His)
|
rs16829216
|
0.00012
|
NM_006767.4(LZTR1):c.1449+3G>A
|
rs369605093
|
0.00012
|
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)
|
rs142236568
|
0.00012
|
NM_014780.5(CUL7):c.25G>C (p.Glu9Gln)
|
rs375192347
|
0.00012
|
NM_015627.3(LDLRAP1):c.622G>A (p.Ala208Thr)
|
rs146122441
|
0.00012
|
NM_020366.4(RPGRIP1):c.1904C>G (p.Ala635Gly)
|
rs200325360
|
0.00012
|
NM_021927.3(GUF1):c.1432A>G (p.Ile478Val)
|
rs142349872
|
0.00012
|
NM_024700.4(SNIP1):c.559C>T (p.Arg187Trp)
|
rs186332019
|
0.00012
|
NM_032040.5(CCDC8):c.1555del (p.Arg519fs)
|
rs745914961
|
0.00012
|
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu)
|
rs144923036
|
0.00012
|
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys)
|
rs146682969
|
0.00012
|
NM_058216.3(RAD51C):c.200A>G (p.Glu67Gly)
|
rs375451955
|
0.00012
|
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala)
|
rs376652526
|
0.00012
|
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)
|
rs758217005
|
0.00012
|
NM_152783.5(D2HGDH):c.997+6G>A
|
rs749247772
|
0.00012
|
NM_194248.3(OTOF):c.2523+5G>A
|
rs201745796
|
0.00012
|
NM_199242.3(UNC13D):c.2191G>A (p.Val731Met)
|
rs377549461
|
0.00012
|
NM_206933.4(USH2A):c.7924A>G (p.Ile2642Val)
|
rs143523460
|
0.00012
|
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr)
|
rs730881342
|
0.00011
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile)
|
rs587780634
|
0.00011
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys)
|
rs531980488
|
0.00011
|
NM_000053.4(ATP7B):c.1195G>A (p.Ala399Thr)
|
rs370203816
|
0.00011
|
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr)
|
rs200728096
|
0.00011
|
NM_000064.4(C3):c.2047+7G>A
|
rs770932217
|
0.00011
|
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser)
|
rs187054121
|
0.00011
|
NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp)
|
rs376026619
|
0.00011
|
NM_000090.4(COL3A1):c.1694C>A (p.Pro565His)
|
rs144260440
|
0.00011
|
NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu)
|
rs200984988
|
0.00011
|
NM_000104.4(CYP1B1):c.319C>G (p.Leu107Val)
|
rs56339482
|
0.00011
|
NM_000111.3(SLC26A3):c.1193C>T (p.Ser398Phe)
|
rs143839547
|
0.00011
|
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)
|
rs143181565
|
0.00011
|
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)
|
rs63750370
|
0.00011
|
NM_000179.3(MSH6):c.942C>G (p.Ser314Arg)
|
rs150440246
|
0.00011
|
NM_000218.3(KCNQ1):c.1388G>C (p.Ser463Thr)
|
rs184636161
|
0.00011
|
NM_000219.6(KCNE1):c.23C>T (p.Ala8Val)
|
rs199473348
|
0.00011
|
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)
|
rs756322372
|
0.00011
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)
|
rs150478207
|
0.00011
|
NM_000251.3(MSH2):c.1386+94A>G
|
rs546035846
|
0.00011
|
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val)
|
rs63750684
|
0.00011
|
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)
|
rs752200396
|
0.00011
|
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)
|
rs199552354
|
0.00011
|
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu)
|
rs199792389
|
0.00011
|
NM_000314.8(PTEN):c.-835C>T
|
rs587779994
|
0.00011
|
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln)
|
rs368114790
|
0.00011
|
NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys)
|
rs144705160
|
0.00011
|
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp)
|
rs201807974
|
0.00011
|
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)
|
rs201140528
|
0.00011
|
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met)
|
rs143860237
|
0.00011
|
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg)
|
rs142432539
|
0.00011
|
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)
|
rs376968326
|
0.00011
|
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)
|
rs397508556
|
0.00011
|
NM_000492.4(CFTR):c.806T>C (p.Ile269Thr)
|
rs201016820
|
0.00011
|
NM_000500.9(CYP21A2):c.371C>T (p.Thr124Ile)
|
rs566065375
|
0.00011
|
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro)
|
rs146938346
|
0.00011
|
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His)
|
rs370236216
|
0.00011
|
NM_000631.5(NCF4):c.758+50C>T
|
rs201021542
|
0.00011
|
NM_000642.3(AGL):c.341G>A (p.Arg114His)
|
rs150146360
|
0.00011
|
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser)
|
rs75326924
|
0.00011
|
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp)
|
rs370219248
|
0.00011
|
NM_001017995.3(SH3PXD2B):c.262C>T (p.Arg88Trp)
|
rs191035319
|
0.00011
|
NM_001099287.2(NIPAL4):c.890T>C (p.Ile297Thr)
|
rs369432304
|
0.00011
|
NM_001110556.2(FLNA):c.5764G>A (p.Val1922Met)
|
rs371366175
|
0.00011
|
NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His)
|
rs148124447
|
0.00011
|
NM_001142800.2(EYS):c.1349A>C (p.Asn450Thr)
|
rs138255012
|
0.00011
|
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys)
|
rs527250558
|
0.00011
|
NM_001257180.2(SLC20A2):c.295G>A (p.Ala99Thr)
|
rs149761291
|
0.00011
|
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr)
|
rs201112096
|
0.00011
|
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)
|
rs200716018
|
0.00011
|
NM_001267550.2(TTN):c.45617-13C>T
|
rs570853409
|
0.00011
|
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)
|
rs377571654
|
0.00011
|
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met)
|
rs116142642
|
0.00011
|
NM_001267550.2(TTN):c.61484G>A (p.Arg20495His)
|
rs775137607
|
0.00011
|
NM_001267550.2(TTN):c.63233A>C (p.Lys21078Thr)
|
rs879227779
|
0.00011
|
NM_001267550.2(TTN):c.66844T>C (p.Tyr22282His)
|
rs745992545
|
0.00011
|
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met)
|
rs779064962
|
0.00011
|
NM_001267550.2(TTN):c.7618C>T (p.Arg2540Cys)
|
rs368574470
|
0.00011
|
NM_001267550.2(TTN):c.97193-16T>G
|
rs371317486
|
0.00011
|
NM_001267550.2(TTN):c.99982G>A (p.Val33328Met)
|
rs372302484
|
0.00011
|
NM_001367561.1(DOCK7):c.4429A>G (p.Thr1477Ala)
|
rs777656293
|
0.00011
|
NM_001377299.1(NDUFS2):c.875T>C (p.Met292Thr)
|
rs150667550
|
0.00011
|
NM_001378454.1(ALMS1):c.12151C>T (p.Arg4051Cys)
|
rs201874056
|
0.00011
|
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu)
|
rs187132771
|
0.00011
|
NM_001379500.1(COL18A1):c.2744G>A (p.Arg915Gln)
|
rs570708678
|
0.00011
|
NM_001382567.1(STIM1):c.1847C>T (p.Ala616Val)
|
rs750326949
|
0.00011
|
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp)
|
rs540100675
|
0.00011
|
NM_001497.4(B4GALT1):c.392C>T (p.Pro131Leu)
|
rs150774756
|
0.00011
|
NM_001846.4(COL4A2):c.1978+4T>C
|
rs372577230
|
0.00011
|
NM_001927.4(DES):c.407T>A (p.Leu136His)
|
rs397516695
|
0.00011
|
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly)
|
rs369868954
|
0.00011
|
NM_001953.5(TYMP):c.1441C>T (p.Gln481Ter)
|
rs200735968
|
0.00011
|
NM_002335.4(LRP5):c.3245A>G (p.Tyr1082Cys)
|
rs113804402
|
0.00011
|
NM_002361.4(MAG):c.1292T>A (p.Leu431Gln)
|
rs199969989
|
0.00011
|
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg)
|
rs373629059
|
0.00011
|
NM_002474.3(MYH11):c.3530C>T (p.Thr1177Met)
|
rs201391947
|
0.00011
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
NM_002485.5(NBN):c.505C>T (p.Arg169Cys)
|
rs182756889
|
0.00011
|
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys)
|
rs11568437
|
0.00011
|
NM_004006.3(DMD):c.295A>G (p.Ile99Val)
|
rs149428656
|
0.00011
|
NM_004628.5(XPC):c.1178G>A (p.Arg393Gln)
|
rs376220736
|
0.00011
|
NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr)
|
rs141340466
|
0.00011
|
NM_005188.4(CBL):c.2360G>A (p.Arg787His)
|
rs200220863
|
0.00011
|
NM_005359.6(SMAD4):c.466A>T (p.Met156Leu)
|
rs534355764
|
0.00011
|
NM_005585.5(SMAD6):c.908C>T (p.Thr303Met)
|
rs146363463
|
0.00011
|
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)
|
rs79783591
|
0.00011
|
NM_006231.4(POLE):c.4169G>A (p.Arg1390His)
|
rs200776293
|
0.00011
|
NM_006231.4(POLE):c.6050G>A (p.Arg2017His)
|
rs144178150
|
0.00011
|
NM_006231.4(POLE):c.6658-7C>A
|
rs531482240
|
0.00011
|
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg)
|
rs369588682
|
0.00011
|
NM_012114.3(CASP14):c.449T>A (p.Met150Lys)
|
rs370502147
|
0.00011
|
NM_014714.4(IFT140):c.634+6G>C
|
rs368229365
|
0.00011
|
NM_015166.4(MLC1):c.65G>A (p.Arg22Gln)
|
rs184241759
|
0.00011
|
NM_015311.3(OBSL1):c.4285G>A (p.Val1429Met)
|
rs375101491
|
0.00011
|
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
NM_018196.4(TMLHE):c.248C>T (p.Ala83Val)
|
rs149189246
|
0.00011
|
NM_018941.4(CLN8):c.599T>C (p.Met200Thr)
|
rs368646951
|
0.00011
|
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys)
|
rs147844153
|
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_020975.6(RET):c.2556C>G (p.Ile852Met)
|
rs377767426
|
0.00011
|
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met)
|
rs199796910
|
0.00011
|
NM_024809.5(TCTN2):c.1234+5C>G
|
rs201382614
|
0.00011
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
0.00011
|
NM_025216.3(WNT10A):c.427C>T (p.His143Tyr)
|
rs202024965
|
0.00011
|
NM_030777.4(SLC2A10):c.1204G>A (p.Ala402Thr)
|
rs147710229
|
0.00011
|
NM_032040.5(CCDC8):c.1609C>T (p.Gln537Ter)
|
rs144181069
|
0.00011
|
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr)
|
rs771410054
|
0.00011
|
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala)
|
rs111033517
|
0.00011
|
NM_033028.5(BBS4):c.1541_1551del (p.Glu514fs)
|
rs748758201
|
0.00011
|
NM_033337.3(CAV3):c.125A>C (p.Glu42Ala)
|
rs137901165
|
0.00011
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
NM_139276.3(STAT3):c.2082T>A (p.His694Gln)
|
rs139701269
|
0.00011
|
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)
|
rs369292480
|
0.00011
|
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val)
|
rs202048210
|
0.00011
|
NM_153676.4(USH1C):c.407G>A (p.Arg136Gln)
|
rs558663132
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_177924.5(ASAH1):c.219A>G (p.Leu73=)
|
rs141785977
|
0.00011
|
NM_178170.3(NEK8):c.583G>A (p.Glu195Lys)
|
rs752331372
|
0.00011
|
NM_198569.3(ADGRG6):c.2143G>A (p.Gly715Arg)
|
rs372427661
|
0.00011
|
NM_206933.4(USH2A):c.188G>A (p.Arg63Gln)
|
rs369806765
|
0.00011
|
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)
|
rs373440614
|
0.00010
|
NM_000051.4(ATM):c.1631T>C (p.Leu544Ser)
|
rs375754332
|
0.00010
|
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)
|
rs377648506
|
0.00010
|
NM_000053.4(ATP7B):c.3243+5G>A
|
rs373193482
|
0.00010
|
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met)
|
rs368545738
|
0.00010
|
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)
|
rs189925962
|
0.00010
|
NM_000070.3(CAPN3):c.1524+3G>A
|
rs374188055
|
0.00010
|
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe)
|
rs749895856
|
0.00010
|
NM_000124.4(ERCC6):c.565A>G (p.Thr189Ala)
|
rs138822457
|
0.00010
|
NM_000137.4(FAH):c.1193G>A (p.Gly398Glu)
|
rs141946827
|
0.00010
|
NM_000155.4(GALT):c.864C>T (p.Asn288=)
|
rs372134800
|
0.00010
|
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)
|
rs200785120
|
0.00010
|
NM_000171.4(GLRA1):c.89G>A (p.Arg30His)
|
rs199910297
|
0.00010
|
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)
|
rs542838372
|
0.00010
|
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys)
|
rs372990379
|
0.00010
|
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser)
|
rs587779934
|
0.00010
|
NM_000243.3(MEFV):c.1043G>A (p.Arg348His)
|
rs104895198
|
0.00010
|
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)
|
rs200764804
|
0.00010
|
NM_000277.3(PAH):c.280A>G (p.Ile94Val)
|
rs528078207
|
0.00010
|
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr)
|
rs200413804
|
0.00010
|
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)
|
rs142894102
|
0.00010
|
NM_000344.4(SMN1):c.*1G>A
|
rs763144752
|
0.00010
|
NM_000370.3(TTPA):c.575G>A (p.Arg192His)
|
rs121917850
|
0.00010
|
NM_000383.4(AIRE):c.1450G>A (p.Val484Met)
|
rs367966318
|
0.00010
|
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu)
|
rs193922417
|
0.00010
|
NM_000441.2(SLC26A4):c.415+4A>G
|
rs368280107
|
0.00010
|
NM_000451.4(SHOX):c.545-10T>C
|
rs370327147
|
0.00010
|
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)
|
rs74315466
|
0.00010
|
NM_000492.4(CFTR):c.2279C>T (p.Thr760Met)
|
rs397508359
|
0.00010
|
NM_000492.4(CFTR):c.2957T>C (p.Leu986Pro)
|
rs565971160
|
0.00010
|
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)
|
rs149353983
|
0.00010
|
NM_000518.5(HBB):c.*65C>G
|
rs1490059160
|
0.00010
|
NM_000531.6(OTC):c.127C>A (p.Leu43Ile)
|
rs72554309
|
0.00010
|
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu)
|
rs587780062
|
0.00010
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)
|
rs200553205
|
0.00010
|
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)
|
rs564930066
|
0.00010
|
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)
|
rs147754007
|
0.00010
|
NM_001048174.2(MUTYH):c.640G>T (p.Val214Leu)
|
rs769766446
|
0.00010
|
NM_001077418.3(TMEM231):c.559G>A (p.Gly187Ser)
|
rs563492919
|
0.00010
|
NM_001080517.3(SETD5):c.2426A>G (p.Tyr809Cys)
|
rs1270531724
|
0.00010
|
NM_001081.4(CUBN):c.6268A>G (p.Lys2090Glu)
|
rs201374966
|
0.00010
|
NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His)
|
rs781881872
|
0.00010
|
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)
|
rs199870606
|
0.00010
|
NM_001135022.2(ELMOD3):c.298C>T (p.Gln100Ter)
|
rs753265000
|
0.00010
|
NM_001164277.2(SLC37A4):c.871+6C>T
|
rs377101167
|
0.00010
|
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn)
|
rs368007942
|
0.00010
|
NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln)
|
rs201954720
|
0.00010
|
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr)
|
rs142414432
|
0.00010
|
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys)
|
rs371552518
|
0.00010
|
NM_001267550.2(TTN):c.33286C>T (p.Arg11096Cys)
|
rs377710763
|
0.00010
|
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser)
|
rs144609506
|
0.00010
|
NM_001267550.2(TTN):c.5577G>T (p.Arg1859Ser)
|
rs551538420
|
0.00010
|
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu)
|
rs142453163
|
0.00010
|
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile)
|
rs371362606
|
0.00010
|
NM_001267550.2(TTN):c.81869G>C (p.Gly27290Ala)
|
rs200240728
|
0.00010
|
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly)
|
rs368023868
|
0.00010
|
NM_001267550.2(TTN):c.84448T>C (p.Tyr28150His)
|
rs397517727
|
0.00010
|
NM_001267550.2(TTN):c.84946G>C (p.Glu28316Gln)
|
rs183238138
|
0.00010
|
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile)
|
rs200709344
|
0.00010
|
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg)
|
rs200854704
|
0.00010
|
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)
|
rs542266962
|
0.00010
|
NM_001367624.2(ZNF469):c.6809C>A (p.Ser2270Tyr)
|
rs273585624
|
0.00010
|
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser)
|
rs531648685
|
0.00010
|
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)
|
rs199615803
|
0.00010
|
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=)
|
rs371511963
|
0.00010
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00010
|
NM_001711.6(BGN):c.838C>T (p.Arg280Trp)
|
rs370486954
|
0.00010
|
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser)
|
rs146807421
|
0.00010
|
NM_002435.3(MPI):c.748G>A (p.Gly250Ser)
|
rs748090636
|
0.00010
|
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln)
|
rs746211825
|
0.00010
|
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)
|
rs181860632
|
0.00010
|
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys)
|
rs111033564
|
0.00010
|
NM_002769.5(PRSS1):c.283C>T (p.Arg95Cys)
|
rs201775810
|
0.00010
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)
|
rs774568101
|
0.00010
|
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser)
|
rs200702528
|
0.00010
|
NM_003611.3(OFD1):c.1128A>C (p.Lys376Asn)
|
rs758883184
|
0.00010
|
NM_003640.5(ELP1):c.3931+1G>T
|
rs143674809
|
0.00010
|
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln)
|
rs200488448
|
0.00010
|
NM_003849.4(SUCLG1):c.22G>T (p.Ala8Ser)
|
rs374871796
|
0.00010
|
NM_004004.6(GJB2):c.37G>A (p.Val13Met)
|
rs768130937
|
0.00010
|
NM_004998.4(MYO1E):c.1513C>A (p.His505Asn)
|
rs139820649
|
0.00010
|
NM_005585.5(SMAD6):c.277A>T (p.Met93Leu)
|
rs781686740
|
0.00010
|
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile)
|
rs375550588
|
0.00010
|
NM_006231.4(POLE):c.556G>A (p.Ala186Thr)
|
rs375213599
|
0.00010
|
NM_006514.4(SCN10A):c.1661T>C (p.Leu554Pro)
|
rs138404783
|
0.00010
|
NM_012448.4(STAT5B):c.2161G>A (p.Gly721Ser)
|
rs750095303
|
0.00010
|
NM_014141.6(CNTNAP2):c.755-5C>T
|
rs369675346
|
0.00010
|
NM_015909.4(NBAS):c.6827C>T (p.Thr2276Met)
|
rs144615326
|
0.00010
|
NM_017952.6(PTCD3):c.805-3C>T
|
rs199732602
|
0.00010
|
NM_019892.6(INPP5E):c.1457G>A (p.Arg486His)
|
rs367592401
|
0.00010
|
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met)
|
rs781597943
|
0.00010
|
NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter)
|
rs201285915
|
0.00010
|
NM_024301.5(FKRP):c.731G>A (p.Arg244His)
|
rs764641619
|
0.00010
|
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)
|
rs199815871
|
0.00010
|
NM_024747.6(HPS6):c.2326T>C (p.Ter776Arg)
|
rs200206362
|
0.00010
|
NM_032119.4(ADGRV1):c.11581-2dup
|
rs745783842
|
0.00010
|
NM_032119.4(ADGRV1):c.3934G>A (p.Val1312Met)
|
rs199552258
|
0.00010
|
NM_053025.4(MYLK):c.1255A>C (p.Lys419Gln)
|
rs773391076
|
0.00010
|
NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs)
|
rs759052246
|
0.00010
|
NM_181507.2(HPS5):c.1127C>T (p.Thr376Ile)
|
rs764861032
|
0.00010
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr)
|
rs375806217
|
0.00009
|
NM_000033.4(ABCD1):c.1399G>A (p.Val467Met)
|
rs192525493
|
0.00009
|
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val)
|
rs202210810
|
0.00009
|
NM_000038.6(APC):c.95A>G (p.Asn32Ser)
|
rs539108537
|
0.00009
|
NM_000051.4(ATM):c.133C>T (p.Arg45Trp)
|
rs3218684
|
0.00009
|
NM_000051.4(ATM):c.332-3T>C
|
rs376116157
|
0.00009
|
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)
|
rs2229021
|
0.00009
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)
|
rs587778079
|
0.00009
|
NM_000055.4(BCHE):c.676A>G (p.Ser226Gly)
|
rs370077923
|
0.00009
|
NM_000059.4(BRCA2):c.10087A>G (p.Ile3363Val)
|
rs55881945
|
0.00009
|
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu)
|
rs374691587
|
0.00009
|
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg)
|
rs80358566
|
0.00009
|
NM_000059.4(BRCA2):c.7006C>T (p.Arg2336Cys)
|
rs431825347
|
0.00009
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
NM_000077.5(CDKN2A):c.325G>C (p.Ala109Pro)
|
rs372481694
|
0.00009
|
NM_000093.5(COL5A1):c.191C>T (p.Thr64Met)
|
rs777376620
|
0.00009
|
NM_000104.4(CYP1B1):c.592G>A (p.Val198Ile)
|
rs59472972
|
0.00009
|
NM_000117.3(EMD):c.470G>A (p.Arg157Gln)
|
rs148515772
|
0.00009
|
NM_000133.4(F9):c.1345C>T (p.Arg449Trp)
|
rs757996262
|
0.00009
|
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln)
|
rs370346767
|
0.00009
|
NM_000138.5(FBN1):c.5225-13T>G
|
rs367786211
|
0.00009
|
NM_000138.5(FBN1):c.8141C>T (p.Ala2714Val)
|
rs772795413
|
0.00009
|
NM_000152.5(GAA):c.546+6C>T
|
rs375727055
|
0.00009
|
NM_000154.2(GALK1):c.743G>A (p.Arg248Gln)
|
rs368904895
|
0.00009
|
NM_000157.4(GBA1):c.605G>A (p.Arg202Gln)
|
rs398123531
|
0.00009
|
NM_000161.3(GCH1):c.610G>A (p.Val204Ile)
|
rs200891969
|
0.00009
|
NM_000170.3(GLDC):c.2378A>T (p.Asp793Val)
|
rs150833015
|
0.00009
|
NM_000179.3(MSH6):c.1730G>A (p.Arg577His)
|
rs376220212
|
0.00009
|
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)
|
rs201268637
|
0.00009
|
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys)
|
rs199472880
|
0.00009
|
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu)
|
rs587779074
|
0.00009
|
NM_000251.3(MSH2):c.1505A>G (p.Asp502Gly)
|
rs148192104
|
0.00009
|
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)
|
rs63751107
|
0.00009
|
NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys)
|
rs145677314
|
0.00009
|
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)
|
rs727504355
|
0.00009
|
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)
|
rs200939753
|
0.00009
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
NM_000335.5(SCN5A):c.368C>T (p.Ala123Val)
|
rs765699394
|
0.00009
|
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn)
|
rs199473599
|
0.00009
|
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)
|
rs199473278
|
0.00009
|
NM_000337.6(SGCD):c.160A>G (p.Ile54Val)
|
rs200671745
|
0.00009
|
NM_000350.3(ABCA4):c.2431C>T (p.Arg811Cys)
|
rs758777521
|
0.00009
|
NM_000360.4(TH):c.1358G>A (p.Arg453His)
|
rs759599321
|
0.00009
|
NM_000384.3(APOB):c.10402A>G (p.Met3468Val)
|
rs149887185
|
0.00009
|
NM_000384.3(APOB):c.10700C>T (p.Thr3567Met)
|
rs368278927
|
0.00009
|
NM_000388.4(CASR):c.1510G>A (p.Val504Met)
|
rs201536450
|
0.00009
|
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly)
|
rs200845884
|
0.00009
|
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys)
|
rs145465528
|
0.00009
|
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)
|
rs727505080
|
0.00009
|
NM_000448.3(RAG1):c.2753G>A (p.Arg918His)
|
rs368073575
|
0.00009
|
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu)
|
rs587782333
|
0.00009
|
NM_000465.4(BARD1):c.764A>G (p.Asn255Ser)
|
rs138904906
|
0.00009
|
NM_000466.3(PEX1):c.3130G>A (p.Gly1044Arg)
|
rs371136331
|
0.00009
|
NM_000492.4(CFTR):c.137C>T (p.Ala46Val)
|
rs151020603
|
0.00009
|
NM_000492.4(CFTR):c.1454G>C (p.Ser485Thr)
|
rs143980575
|
0.00009
|
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)
|
rs55928397
|
0.00009
|
NM_000492.4(CFTR):c.2909-6T>C
|
rs369612622
|
0.00009
|
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val)
|
rs374403559
|
0.00009
|
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)
|
rs140502196
|
0.00009
|
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp)
|
rs397508814
|
0.00009
|
NM_000512.5(GALNS):c.857C>T (p.Thr286Met)
|
rs137927658
|
0.00009
|
NM_000518.4(HBB):c.-132G>T
|
rs887821047
|
0.00009
|
NM_000518.5(HBB):c.316-179A>C
|
rs185607297
|
0.00009
|
NM_000527.5(LDLR):c.1586+15C>T
|
rs371716068
|
0.00009
|
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)
|
rs151207122
|
0.00009
|
NM_000531.6(OTC):c.385C>T (p.Arg129Cys)
|
rs140046498
|
0.00009
|
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)
|
rs63751023
|
0.00009
|
NM_000545.8(HNF1A):c.1721G>A (p.Ser574Asn)
|
rs773895173
|
0.00009
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_000552.5(VWF):c.6908C>T (p.Thr2303Met)
|
rs149432685
|
0.00009
|
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp)
|
rs373336888
|
0.00009
|
NM_000781.3(CYP11A1):c.269+4A>G
|
rs199573967
|
0.00009
|
NM_001001548.3(CD36):c.875G>T (p.Arg292Ile)
|
rs200757788
|
0.00009
|
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn)
|
rs200947767
|
0.00009
|
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln)
|
rs727503404
|
0.00009
|
NM_001035.3(RYR2):c.463+9C>T
|
rs559545973
|
0.00009
|
NM_001035.3(RYR2):c.6441-8C>G
|
rs770177812
|
0.00009
|
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr)
|
rs587780744
|
0.00009
|
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)
|
rs200872702
|
0.00009
|
NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln)
|
rs140156029
|
0.00009
|
NM_001079802.2(FKTN):c.1172+13T>C
|
rs768792475
|
0.00009
|
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln)
|
rs201727231
|
0.00009
|
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr)
|
rs193922677
|
0.00009
|
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys)
|
rs515726212
|
0.00009
|
NM_001126049.2(KLLN):c.-1036G>A
|
rs567739104
|
0.00009
|
NM_001126108.2(SLC12A3):c.2920G>A (p.Val974Ile)
|
rs373092349
|
0.00009
|
NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met)
|
rs199649417
|
0.00009
|
NM_001164508.2(NEB):c.1152+5G>A
|
rs111404077
|
0.00009
|
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006
|
0.00009
|
NM_001243133.2(NLRP3):c.526C>T (p.Arg176Trp)
|
rs201867990
|
0.00009
|
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)
|
rs145285434
|
0.00009
|
NM_001257291.2(SLC9A7):c.923C>T (p.Ala308Val)
|
rs146304021
|
0.00009
|
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val)
|
rs200675195
|
0.00009
|
NM_001267550.2(TTN):c.17184A>G (p.Glu5728=)
|
rs200984007
|
0.00009
|
NM_001267550.2(TTN):c.17437T>A (p.Cys5813Ser)
|
rs368692616
|
0.00009
|
NM_001267550.2(TTN):c.24227-16G>A
|
rs377340591
|
0.00009
|
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr)
|
rs371163094
|
0.00009
|
NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala)
|
rs199561793
|
0.00009
|
NM_001267550.2(TTN):c.39212-17A>G
|
rs770122983
|
0.00009
|
NM_001267550.2(TTN):c.47242A>C (p.Asn15748His)
|
rs368988689
|
0.00009
|
NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val)
|
rs199768159
|
0.00009
|
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp)
|
rs201623791
|
0.00009
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00009
|
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)
|
rs372812312
|
0.00009
|
NM_001267550.2(TTN):c.7058-17C>T
|
rs572098454
|
0.00009
|
NM_001267550.2(TTN):c.7597A>G (p.Ile2533Val)
|
rs372407708
|
0.00009
|
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val)
|
rs373738818
|
0.00009
|
NM_001267550.2(TTN):c.93860T>C (p.Phe31287Ser)
|
rs374887049
|
0.00009
|
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr)
|
rs201023432
|
0.00009
|
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)
|
rs377412567
|
0.00009
|
NM_001276345.2(TNNT2):c.720-4G>T
|
rs201753429
|
0.00009
|
NM_001360016.2(G6PD):c.244A>C (p.Lys82Gln)
|
rs782065240
|
0.00009
|
NM_001367624.2(ZNF469):c.8426C>T (p.Pro2809Leu)
|
rs1054270904
|
0.00009
|
NM_001370658.1(BTD):c.262A>G (p.Ile88Val)
|
rs976185636
|
0.00009
|
NM_001377299.1(NDUFS2):c.1105G>A (p.Ala369Thr)
|
rs200509897
|
0.00009
|
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg)
|
rs202114540
|
0.00009
|
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu)
|
rs914898490
|
0.00009
|
NM_001378454.1(ALMS1):c.9908-13C>T
|
rs373325114
|
0.00009
|
NM_001382567.1(STIM1):c.408G>C (p.Glu136Asp)
|
rs200648767
|
0.00009
|
NM_001384732.1(CPLANE1):c.6512G>A (p.Arg2171Gln)
|
rs377742483
|
0.00009
|
NM_001458.5(FLNC):c.5128G>A (p.Glu1710Lys)
|
rs200077114
|
0.00009
|
NM_001606.5(ABCA2):c.3883-3C>T
|
rs542477663
|
0.00009
|
NM_001943.5(DSG2):c.379-3C>T
|
rs376556524
|
0.00009
|
NM_002230.4(JUP):c.892G>A (p.Gly298Ser)
|
rs199597864
|
0.00009
|
NM_002471.4(MYH6):c.3612G>C (p.Glu1204Asp)
|
rs751153777
|
0.00009
|
NM_002972.4(SBF1):c.1399G>A (p.Val467Ile)
|
rs192339446
|
0.00009
|
NM_003119.4(SPG7):c.584A>G (p.Tyr195Cys)
|
rs145776296
|
0.00009
|
NM_003172.4(SURF1):c.17C>T (p.Ala6Val)
|
rs587727919
|
0.00009
|
NM_003476.5(CSRP3):c.49G>A (p.Val17Ile)
|
rs767932680
|
0.00009
|
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys)
|
rs374886575
|
0.00009
|
NM_004004.6(GJB2):c.487A>G (p.Met163Val)
|
rs80338949
|
0.00009
|
NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser)
|
rs1244241099
|
0.00009
|
NM_004130.4(GYG1):c.788A>C (p.Gln263Pro)
|
rs746892694
|
0.00009
|
NM_004273.5(CHST3):c.1044C>G (p.Ile348Met)
|
rs3740128
|
0.00009
|
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met)
|
rs55932635
|
0.00009
|
NM_004415.4(DSP):c.5513G>A (p.Arg1838His)
|
rs377715841
|
0.00009
|
NM_004588.5(SCN2B):c.281G>A (p.Arg94Gln)
|
rs774866184
|
0.00009
|
NM_004977.3(KCNC3):c.804G>T (p.Trp268Cys)
|
rs1015358035
|
0.00009
|
NM_005188.4(CBL):c.1566T>C (p.Ala522=)
|
rs371065029
|
0.00009
|
NM_005188.4(CBL):c.590+20A>G
|
rs769677676
|
0.00009
|
NM_005476.7(GNE):c.1412-4G>A
|
rs146067766
|
0.00009
|
NM_005535.3(IL12RB1):c.128C>T (p.Ser43Leu)
|
rs189309495
|
0.00009
|
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp)
|
rs558267822
|
0.00009
|
NM_005633.4(SOS1):c.214-17T>C
|
rs369722808
|
0.00009
|
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn)
|
rs199856844
|
0.00009
|
NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr)
|
rs150401251
|
0.00009
|
NM_005751.5(AKAP9):c.2930A>G (p.Asn977Ser)
|
rs369206894
|
0.00009
|
NM_005751.5(AKAP9):c.6905C>T (p.Thr2302Met)
|
rs368444006
|
0.00009
|
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)
|
rs758719669
|
0.00009
|
NM_006506.5(RASA2):c.1674+16T>A
|
rs769778924
|
0.00009
|
NM_006576.4(AVIL):c.1729G>A (p.Gly577Ser)
|
rs748204951
|
0.00009
|
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp)
|
rs776893978
|
0.00009
|
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu)
|
rs145983824
|
0.00009
|
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)
|
rs587780189
|
0.00009
|
NM_007289.4(MME):c.2067C>A (p.Asn689Lys)
|
rs146536523
|
0.00009
|
NM_014244.5(ADAMTS2):c.3088+15G>A
|
rs910578729
|
0.00009
|
NM_014251.3(SLC25A13):c.848+3A>C
|
rs369402461
|
0.00009
|
NM_014714.4(IFT140):c.37G>T (p.Asp13Tyr)
|
rs554065722
|
0.00009
|
NM_014727.3(KMT2B):c.6760C>A (p.Pro2254Thr)
|
rs763536557
|
0.00009
|
NM_015046.7(SETX):c.2750T>C (p.Met917Thr)
|
rs376022544
|
0.00009
|
NM_015311.3(OBSL1):c.5060T>C (p.Leu1687Pro)
|
rs757858688
|
0.00009
|
NM_015474.4(SAMHD1):c.167G>A (p.Arg56His)
|
rs147891080
|
0.00009
|
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=)
|
rs376450705
|
0.00009
|
NM_016553.5(NUP62):c.796G>A (p.Gly266Ser)
|
rs200690516
|
0.00009
|
NM_017534.6(MYH2):c.2546C>T (p.Ala849Val)
|
rs374630865
|
0.00009
|
NM_017777.4(MKS1):c.858+6C>T
|
rs368774719
|
0.00009
|
NM_018112.3(TMEM38B):c.818A>G (p.Lys273Arg)
|
rs146026425
|
0.00009
|
NM_019112.4(ABCA7):c.3578-2A>G
|
rs376824416
|
0.00009
|
NM_020361.5(CPA6):c.748-1G>A
|
rs201265791
|
0.00009
|
NM_020365.5(EIF2B3):c.590C>T (p.Thr197Met)
|
rs749213552
|
0.00009
|
NM_020631.6(PLEKHG5):c.2885C>T (p.Ser962Leu)
|
rs369440409
|
0.00009
|
NM_020778.5(ALPK3):c.2181G>C (p.Glu727Asp)
|
rs56191073
|
0.00009
|
NM_020921.4(NIN):c.3403G>A (p.Val1135Ile)
|
rs150722174
|
0.00009
|
NM_021098.3(CACNA1H):c.6023G>T (p.Ser2008Ile)
|
rs750277154
|
0.00009
|
NM_022114.4(PRDM16):c.1537G>A (p.Gly513Ser)
|
rs200278862
|
0.00009
|
NM_022124.6(CDH23):c.3029G>A (p.Arg1010His)
|
rs370107953
|
0.00009
|
NM_022436.3(ABCG5):c.112C>G (p.Leu38Val)
|
rs375829761
|
0.00009
|
NM_022725.4(FANCF):c.860A>G (p.Tyr287Cys)
|
rs750623273
|
0.00009
|
NM_024649.5(BBS1):c.1110+15C>T
|
rs371084544
|
0.00009
|
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)
|
rs515726072
|
0.00009
|
NM_025257.3(SLC44A4):c.22G>A (p.Glu8Lys)
|
rs374954632
|
0.00009
|
NM_032119.4(ADGRV1):c.8779G>A (p.Val2927Ile)
|
rs547397177
|
0.00009
|
NM_033159.4(HYAL1):c.1201C>T (p.Arg401Trp)
|
rs202067357
|
0.00009
|
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His)
|
rs139817477
|
0.00009
|
NM_054012.4(ASS1):c.19G>A (p.Val7Met)
|
rs149938546
|
0.00009
|
NM_133259.4(LRPPRC):c.2210+4A>C
|
rs190007694
|
0.00009
|
NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys)
|
rs760016065
|
0.00009
|
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg)
|
rs369932370
|
0.00009
|
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met)
|
rs559947948
|
0.00009
|
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)
|
rs56851164
|
0.00009
|
NM_173076.3(ABCA12):c.1446A>C (p.Glu482Asp)
|
rs368135271
|
0.00009
|
NM_173076.3(ABCA12):c.2592+6A>C
|
rs375214951
|
0.00009
|
NM_182925.5(FLT4):c.2563G>A (p.Ala855Thr)
|
rs121909657
|
0.00009
|
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln)
|
rs80356601
|
0.00009
|
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)
|
rs745693690
|
0.00009
|
NM_207346.3(TSEN54):c.1173G>C (p.Gln391His)
|
rs577958629
|
0.00009
|
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln)
|
rs587782298
|
0.00008
|
NM_000051.4(ATM):c.4329C>A (p.His1443Gln)
|
rs377065665
|
0.00008
|
NM_000051.4(ATM):c.6497T>C (p.Val2166Ala)
|
rs1232551114
|
0.00008
|
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)
|
rs200431631
|
0.00008
|
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)
|
rs587779867
|
0.00008
|
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly)
|
rs782196306
|
0.00008
|
NM_000057.4(BLM):c.3310G>A (p.Gly1104Ser)
|
rs141269464
|
0.00008
|
NM_000059.4(BRCA2):c.9872C>G (p.Ser3291Cys)
|
rs200210279
|
0.00008
|
NM_000075.4(CDK4):c.886C>T (p.His296Tyr)
|
rs2227954
|
0.00008
|
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile)
|
rs199672291
|
0.00008
|
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val)
|
rs761179248
|
0.00008
|
NM_000104.4(CYP1B1):c.859G>A (p.Ala287Thr)
|
rs201544164
|
0.00008
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)
|
rs758390382
|
0.00008
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)
|
rs199876321
|
0.00008
|
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln)
|
rs138362632
|
0.00008
|
NM_000237.3(LPL):c.134C>A (p.Thr45Asn)
|
rs143944126
|
0.00008
|
NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys)
|
rs199472885
|
0.00008
|
NM_000249.4(MLH1):c.1558+5G>A
|
rs199935667
|
0.00008
|
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)
|
rs371944271
|
0.00008
|
NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met)
|
rs199473634
|
0.00008
|
NM_000337.6(SGCD):c.566A>G (p.Lys189Arg)
|
rs538002169
|
0.00008
|
NM_000350.3(ABCA4):c.1552G>A (p.Glu518Lys)
|
rs369860406
|
0.00008
|
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met)
|
rs201351976
|
0.00008
|
NM_000352.6(ABCC8):c.375C>G (p.His125Gln)
|
rs60637558
|
0.00008
|
NM_000380.4(XPA):c.731A>G (p.His244Arg)
|
rs144725456
|
0.00008
|
NM_000400.4(ERCC2):c.733G>A (p.Asp245Asn)
|
rs777291413
|
0.00008
|
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn)
|
rs372592018
|
0.00008
|
NM_000455.5(STK11):c.920+5G>A
|
rs587780013
|
0.00008
|
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)
|
rs376727038
|
0.00008
|
NM_000465.4(BARD1):c.1985T>G (p.Leu662Arg)
|
rs556775078
|
0.00008
|
NM_000477.7(ALB):c.725G>A (p.Arg242His)
|
rs75002628
|
0.00008
|
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)
|
rs143456784
|
0.00008
|
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)
|
rs199791061
|
0.00008
|
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys)
|
rs397508430
|
0.00008
|
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr)
|
rs184724618
|
0.00008
|
NM_000501.4(ELN):c.1358-198G>A
|
rs192461213
|
0.00008
|
NM_000518.5(HBB):c.*91G>A
|
rs193922549
|
0.00008
|
NM_000527.5(LDLR):c.1503G>A (p.Ala501=)
|
rs368889457
|
0.00008
|
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp)
|
rs530993704
|
0.00008
|
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)
|
rs142548565
|
0.00008
|
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys)
|
rs754476250
|
0.00008
|
NM_000543.5(SMPD1):c.1253G>A (p.Arg418Gln)
|
rs767722360
|
0.00008
|
NM_000551.4(VHL):c.5C>T (p.Pro2Leu)
|
rs111246617
|
0.00008
|
NM_000552.5(VWF):c.7724G>A (p.Arg2575His)
|
rs373321657
|
0.00008
|
NM_000631.5(NCF4):c.179G>A (p.Arg60His)
|
rs369847561
|
0.00008
|
NM_000642.3(AGL):c.1423+3A>G
|
rs766117687
|
0.00008
|
NM_001005242.3(PKP2):c.194C>T (p.Ala65Val)
|
rs139924723
|
0.00008
|
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile)
|
rs371086868
|
0.00008
|
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr)
|
rs192816572
|
0.00008
|
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)
|
rs144111588
|
0.00008
|
NM_001048174.2(MUTYH):c.1504G>T (p.Asp502Tyr)
|
rs147923905
|
0.00008
|
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)
|
rs147718169
|
0.00008
|
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)
|
rs375798246
|
0.00008
|
NM_001136472.2(LITAF):c.268C>T (p.Arg90Cys)
|
rs375665454
|
0.00008
|
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser)
|
rs751724804
|
0.00008
|
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn)
|
rs368165922
|
0.00008
|
NM_001244710.2(GFPT1):c.1597+5A>G
|
rs373420002
|
0.00008
|
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)
|
rs772957495
|
0.00008
|
NM_001267550.2(TTN):c.20837-6T>C
|
rs761982704
|
0.00008
|
NM_001267550.2(TTN):c.2767G>A (p.Glu923Lys)
|
rs369195237
|
0.00008
|
NM_001267550.2(TTN):c.2776-14T>C
|
rs201611946
|
0.00008
|
NM_001267550.2(TTN):c.3713C>A (p.Thr1238Asn)
|
rs147020824
|
0.00008
|
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr)
|
rs377037421
|
0.00008
|
NM_001267550.2(TTN):c.63137T>C (p.Ile21046Thr)
|
rs368868562
|
0.00008
|
NM_001267550.2(TTN):c.71944A>G (p.Asn23982Asp)
|
rs199755820
|
0.00008
|
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met)
|
rs397517759
|
0.00008
|
NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu)
|
rs762265902
|
0.00008
|
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys)
|
rs371807358
|
0.00008
|
NM_001384474.1(LOXHD1):c.2317C>T (p.Arg773Cys)
|
rs376186520
|
0.00008
|
NM_001904.4(CTNNB1):c.1803+3A>G
|
rs771700200
|
0.00008
|
NM_002087.4(GRN):c.229G>A (p.Val77Ile)
|
rs148531161
|
0.00008
|
NM_002150.3(HPD):c.446A>G (p.Lys149Arg)
|
rs374690828
|
0.00008
|
NM_002230.4(JUP):c.809T>A (p.Leu270Gln)
|
rs794729040
|
0.00008
|
NM_002471.4(MYH6):c.1002T>A (p.Asp334Glu)
|
rs371859345
|
0.00008
|
NM_002474.3(MYH11):c.3293+5C>T
|
rs766421052
|
0.00008
|
NM_002485.5(NBN):c.671G>A (p.Gly224Glu)
|
rs199845467
|
0.00008
|
NM_002529.4(NTRK1):c.2057G>A (p.Arg686His)
|
rs754452975
|
0.00008
|
NM_002769.5(PRSS1):c.284G>A (p.Arg95His)
|
rs375820192
|
0.00008
|
NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg)
|
rs201313861
|
0.00008
|
NM_002878.4(RAD51D):c.973G>A (p.Gly325Ser)
|
rs587780106
|
0.00008
|
NM_005215.4(DCC):c.2260G>A (p.Val754Met)
|
rs775565634
|
0.00008
|
NM_005518.4(HMGCS2):c.821G>A (p.Arg274His)
|
rs370058829
|
0.00008
|
NM_005591.4(MRE11):c.913C>T (p.Arg305Trp)
|
rs372000848
|
0.00008
|
NM_005732.4(RAD50):c.3769T>G (p.Ser1257Ala)
|
rs786201205
|
0.00008
|
NM_005993.5(TBCD):c.2178+5A>G
|
rs371823710
|
0.00008
|
NM_006031.6(PCNT):c.6625G>A (p.Ala2209Thr)
|
rs769183047
|
0.00008
|
NM_006096.4(NDRG1):c.1051C>T (p.Arg351Ter)
|
rs765621411
|
0.00008
|
NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys)
|
rs150564856
|
0.00008
|
NM_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys)
|
rs200129338
|
0.00008
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
NM_007194.4(CHEK2):c.1259+8A>G
|
rs368388249
|
0.00008
|
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met)
|
rs558321010
|
0.00008
|
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)
|
rs562517792
|
0.00008
|
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro)
|
rs273900712
|
0.00008
|
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val)
|
rs28897696
|
0.00008
|
NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly)
|
rs772684048
|
0.00008
|
NM_012186.3(FOXE3):c.127G>A (p.Glu43Lys)
|
rs1030716081
|
0.00008
|
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys)
|
rs761622978
|
0.00008
|
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)
|
rs749383532
|
0.00008
|
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
|
rs747676277
|
0.00008
|
NM_015311.3(OBSL1):c.3445G>A (p.Gly1149Arg)
|
rs200771559
|
0.00008
|
NM_017534.6(MYH2):c.5263C>T (p.Arg1755Cys)
|
rs202006788
|
0.00008
|
NM_017755.6(NSUN2):c.2137G>A (p.Glu713Lys)
|
rs200232369
|
0.00008
|
NM_020366.4(RPGRIP1):c.2510C>G (p.Ala837Gly)
|
rs373515194
|
0.00008
|
NM_024312.5(GNPTAB):c.1960A>G (p.Ser654Gly)
|
rs151209875
|
0.00008
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00008
|
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)
|
rs730881887
|
0.00008
|
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala)
|
rs376619846
|
0.00008
|
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)
|
rs104886270
|
0.00008
|
NM_054012.4(ASS1):c.245T>C (p.Leu82Pro)
|
rs559043503
|
0.00008
|
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr)
|
rs748221725
|
0.00008
|
NM_170707.4(LMNA):c.1488+6T>G
|
rs369642101
|
0.00008
|
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met)
|
rs765594825
|
0.00008
|
NM_174936.4(PCSK9):c.479G>A (p.Arg160Gln)
|
rs367620267
|
0.00008
|
NM_181507.2(HPS5):c.1379G>T (p.Gly460Val)
|
rs563393844
|
0.00008
|
NM_182961.4(SYNE1):c.24635G>A (p.Arg8212His)
|
rs766462111
|
0.00008
|
NM_203447.4(DOCK8):c.2740G>A (p.Ala914Thr)
|
rs375665207
|
0.00008
|
NR_003051.3(RMRP):n.-22T>C
|
rs947939533
|
0.00008
|
NM_000038.6(APC):c.1408+3A>G
|
rs534358523
|
0.00007
|
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg)
|
rs587779804
|
0.00007
|
NM_000039.3(APOA1):c.158A>G (p.Tyr53Cys)
|
rs750185173
|
0.00007
|
NM_000045.4(ARG1):c.665+4G>A
|
rs371976737
|
0.00007
|
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)
|
rs147515380
|
0.00007
|
NM_000051.4(ATM):c.290T>C (p.Ile97Thr)
|
rs786203011
|
0.00007
|
NM_000051.4(ATM):c.3793T>C (p.Phe1265Leu)
|
rs371526361
|
0.00007
|
NM_000051.4(ATM):c.496+4T>C
|
rs587781375
|
0.00007
|
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)
|
rs202208861
|
0.00007
|
NM_000053.4(ATP7B):c.1947-4C>T
|
rs74904335
|
0.00007
|
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)
|
rs431825302
|
0.00007
|
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn)
|
rs756125442
|
0.00007
|
NM_000092.5(COL4A4):c.3532G>A (p.Gly1178Ser)
|
rs780504632
|
0.00007
|
NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met)
|
rs375391843
|
0.00007
|
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)
|
rs375241473
|
0.00007
|
NM_000133.4(F9):c.1346G>A (p.Arg449Gln)
|
rs143018900
|
0.00007
|
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys)
|
rs140992397
|
0.00007
|
NM_000147.5(FUCA1):c.1A>G (p.Met1Val)
|
rs558338123
|
0.00007
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_000170.3(GLDC):c.661G>A (p.Val221Ile)
|
rs144043066
|
0.00007
|
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys)
|
rs370170143
|
0.00007
|
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)
|
rs147445322
|
0.00007
|
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp)
|
rs575678784
|
0.00007
|
NM_000249.4(MLH1):c.*4T>C
|
rs750794400
|
0.00007
|
NM_000249.4(MLH1):c.117-10G>A
|
rs576724240
|
0.00007
|
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)
|
rs63750809
|
0.00007
|
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)
|
rs148317871
|
0.00007
|
NM_000251.3(MSH2):c.1087G>T (p.Val363Leu)
|
rs377345366
|
0.00007
|
NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg)
|
rs202147520
|
0.00007
|
NM_000302.4(PLOD1):c.1115A>G (p.Asp372Gly)
|
rs377497101
|
0.00007
|
NM_000344.4(SMN1):c.865T>A (p.Cys289Ser)
|
rs187925143
|
0.00007
|
NM_000371.4(TTR):c.280G>C (p.Asp94His)
|
rs730881164
|
0.00007
|
NM_000388.4(CASR):c.848T>C (p.Ile283Thr)
|
rs142745096
|
0.00007
|
NM_000397.4(CYBB):c.1496A>C (p.Lys499Thr)
|
rs201356986
|
0.00007
|
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala)
|
rs373888280
|
0.00007
|
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val)
|
rs561561515
|
0.00007
|
NM_000478.6(ALPL):c.575T>C (p.Met192Thr)
|
rs765011829
|
0.00007
|
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)
|
rs193922497
|
0.00007
|
NM_000492.4(CFTR):c.948T>G (p.Phe316Leu)
|
rs78742051
|
0.00007
|
NM_000518.4(HBB):c.34G>A (p.Val12Ile)
|
rs33974228
|
0.00007
|
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys)
|
rs147502219
|
0.00007
|
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu)
|
rs759109699
|
0.00007
|
NM_000535.7(PMS2):c.1280G>A (p.Arg427His)
|
rs112902065
|
0.00007
|
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)
|
rs63751211
|
0.00007
|
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln)
|
rs587781909
|
0.00007
|
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)
|
rs371673459
|
0.00007
|
NM_000548.5(TSC2):c.619G>A (p.Val207Ile)
|
rs139929314
|
0.00007
|
NM_000552.5(VWF):c.658-3C>A
|
rs377196768
|
0.00007
|
NM_000552.5(VWF):c.6890C>T (p.Pro2297Leu)
|
rs201372397
|
0.00007
|
NM_001035.3(RYR2):c.51T>C (p.Asp17=)
|
rs373674802
|
0.00007
|
NM_001042492.3(NF1):c.1528-10T>C
|
rs376174484
|
0.00007
|
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)
|
rs376655102
|
0.00007
|
NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp)
|
rs373766973
|
0.00007
|
NM_001164508.2(NEB):c.17023C>T (p.Arg5675Cys)
|
rs547231033
|
0.00007
|
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr)
|
rs148057999
|
0.00007
|
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met)
|
rs200744555
|
0.00007
|
NM_001267550.2(TTN):c.103828C>T (p.Arg34610Cys)
|
rs376443365
|
0.00007
|
NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu)
|
rs369947439
|
0.00007
|
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg)
|
rs201229221
|
0.00007
|
NM_001267550.2(TTN):c.32035G>A (p.Val10679Ile)
|
rs369932282
|
0.00007
|
NM_001267550.2(TTN):c.35185G>A (p.Glu11729Lys)
|
rs762444896
|
0.00007
|
NM_001267550.2(TTN):c.53444T>C (p.Ile17815Thr)
|
rs374563054
|
0.00007
|
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)
|
rs377000174
|
0.00007
|
NM_001267550.2(TTN):c.72475A>G (p.Ile24159Val)
|
rs371764714
|
0.00007
|
NM_001267550.2(TTN):c.96883G>A (p.Val32295Met)
|
rs199532781
|
0.00007
|
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
|
rs45466197
|
0.00007
|
NM_001278116.2(L1CAM):c.1124-6_1124-3dup
|
rs782713149
|
0.00007
|
NM_001365999.1(SZT2):c.9287-8T>C
|
rs183871754
|
0.00007
|
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=)
|
rs373364340
|
0.00007
|
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln)
|
rs376602261
|
0.00007
|
NM_001378454.1(ALMS1):c.9449G>A (p.Ser3150Asn)
|
rs34029285
|
0.00007
|
NM_001379451.1(BCORL1):c.4079_4081del (p.Asp1360_Leu1361delinsVal)
|
rs781578120
|
0.00007
|
NM_001379500.1(COL18A1):c.651+17C>T
|
rs578202936
|
0.00007
|
NM_001384474.1(LOXHD1):c.2599-12C>T
|
rs892676326
|
0.00007
|
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys)
|
rs758746181
|
0.00007
|
NM_001846.4(COL4A2):c.4534T>C (p.Trp1512Arg)
|
rs200314049
|
0.00007
|
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)
|
rs778958318
|
0.00007
|
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser)
|
rs397516747
|
0.00007
|
NM_002299.4(LCT):c.2761G>T (p.Ala921Ser)
|
rs149891578
|
0.00007
|
NM_002471.4(MYH6):c.4036C>T (p.Arg1346Trp)
|
rs372736126
|
0.00007
|
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu)
|
rs367760321
|
0.00007
|
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr)
|
rs201781110
|
0.00007
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
NM_003001.5(SDHC):c.98C>T (p.Thr33Met)
|
rs148566767
|
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_004360.5(CDH1):c.1289T>G (p.Val430Gly)
|
rs730881665
|
0.00007
|
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln)
|
rs144106775
|
0.00007
|
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg)
|
rs139673146
|
0.00007
|
NM_004415.4(DSP):c.8172G>T (p.Gln2724His)
|
rs372569211
|
0.00007
|
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe)
|
rs570069789
|
0.00007
|
NM_004655.4(AXIN2):c.2182G>A (p.Ala728Thr)
|
rs141260153
|
0.00007
|
NM_004990.4(MARS1):c.734A>G (p.Glu245Gly)
|
rs778753999
|
0.00007
|
NM_005546.4(ITK):c.768+3A>G
|
rs374214545
|
0.00007
|
NM_005591.4(MRE11):c.482A>G (p.Lys161Arg)
|
rs587782294
|
0.00007
|
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu)
|
rs730881026
|
0.00007
|
NM_006031.6(PCNT):c.418C>T (p.Pro140Ser)
|
rs774241611
|
0.00007
|
NM_006231.4(POLE):c.3311C>T (p.Thr1104Met)
|
rs531705054
|
0.00007
|
NM_006567.5(FARS2):c.973G>A (p.Asp325Asn)
|
rs764427452
|
0.00007
|
NM_006904.7(PRKDC):c.593G>A (p.Arg198His)
|
rs368974848
|
0.00007
|
NM_006939.4(SOS2):c.2707G>A (p.Val903Met)
|
rs745788940
|
0.00007
|
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val)
|
rs755783805
|
0.00007
|
NM_007078.3(LDB3):c.422C>T (p.Thr141Ile)
|
rs141078955
|
0.00007
|
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val)
|
rs375130261
|
0.00007
|
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu)
|
rs201084748
|
0.00007
|
NM_007294.4(BRCA1):c.5467+8G>A
|
rs80358062
|
0.00007
|
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met)
|
rs80357001
|
0.00007
|
NM_013246.3(CLCF1):c.89G>A (p.Arg30His)
|
rs772890565
|
0.00007
|
NM_021922.3(FANCE):c.598C>T (p.Arg200Cys)
|
rs763151358
|
0.00007
|
NM_022124.6(CDH23):c.3142C>T (p.Arg1048Cys)
|
rs181843079
|
0.00007
|
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
|
rs373480195
|
0.00007
|
NM_022124.6(CDH23):c.8057T>C (p.Val2686Ala)
|
rs371567666
|
0.00007
|
NM_022437.3(ABCG8):c.586C>T (p.Arg196Trp)
|
rs200433692
|
0.00007
|
NM_024334.3(TMEM43):c.-4C>T
|
rs760598925
|
0.00007
|
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser)
|
rs45543843
|
0.00007
|
NM_025137.4(SPG11):c.31G>C (p.Ala11Pro)
|
rs529316227
|
0.00007
|
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met)
|
rs756414393
|
0.00007
|
NM_138694.4(PKHD1):c.11869C>T (p.Arg3957Cys)
|
rs146680689
|
0.00007
|
NM_139076.3(ABRAXAS1):c.178+9T>C
|
rs367733190
|
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_175914.5(HNF4A):c.569C>T (p.Pro190Leu)
|
rs201749293
|
0.00007
|
NM_176787.5(PIGN):c.776T>C (p.Phe259Ser)
|
rs370310838
|
0.00007
|
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)
|
rs541918040
|
0.00007
|
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His)
|
rs201386640
|
0.00007
|
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser)
|
rs752811693
|
0.00007
|
NR_003051.3(RMRP):n.271T>C
|
rs377349293
|
0.00007
|
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr)
|
rs760892123
|
0.00006
|
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)
|
rs775537775
|
0.00006
|
NM_000022.4(ADA):c.446G>A (p.Arg149Gln)
|
rs121908737
|
0.00006
|
NM_000030.3(AGXT):c.704C>T (p.Thr235Met)
|
rs763751076
|
0.00006
|
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His)
|
rs369586696
|
0.00006
|
NM_000038.6(APC):c.1193A>G (p.Lys398Arg)
|
rs145912662
|
0.00006
|
NM_000038.6(APC):c.2461G>A (p.Val821Ile)
|
rs138498551
|
0.00006
|
NM_000038.6(APC):c.4249A>C (p.Ile1417Leu)
|
rs200166878
|
0.00006
|
NM_000038.6(APC):c.5216A>G (p.Lys1739Arg)
|
rs769558291
|
0.00006
|
NM_000038.6(APC):c.5774C>A (p.Pro1925His)
|
rs762682111
|
0.00006
|
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn)
|
rs538230198
|
0.00006
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
NM_000051.4(ATM):c.115A>G (p.Thr39Ala)
|
rs779297339
|
0.00006
|
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)
|
rs148705269
|
0.00006
|
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)
|
rs3218708
|
0.00006
|
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile)
|
rs375190373
|
0.00006
|
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser)
|
rs587780632
|
0.00006
|
NM_000051.4(ATM):c.8495G>A (p.Arg2832His)
|
rs529296539
|
0.00006
|
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)
|
rs139379666
|
0.00006
|
NM_000051.4(ATM):c.946T>C (p.Tyr316His)
|
rs142317485
|
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_000053.4(ATP7B):c.352G>A (p.Asp118Asn)
|
rs769655497
|
0.00006
|
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu)
|
rs532177115
|
0.00006
|
NM_000054.7(AVPR2):c.1031G>A (p.Arg344Gln)
|
rs368996823
|
0.00006
|
NM_000055.4(BCHE):c.1627C>T (p.Arg543Cys)
|
rs199660374
|
0.00006
|
NM_000057.4(BLM):c.542G>T (p.Ser181Ile)
|
rs587779893
|
0.00006
|
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg)
|
rs55833327
|
0.00006
|
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val)
|
rs587779357
|
0.00006
|
NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser)
|
rs587782601
|
0.00006
|
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys)
|
rs80358862
|
0.00006
|
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg)
|
rs371067421
|
0.00006
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
NM_000059.4(BRCA2):c.8125A>G (p.Ser2709Gly)
|
rs398122596
|
0.00006
|
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys)
|
rs80338782
|
0.00006
|
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr)
|
rs138857720
|
0.00006
|
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg)
|
rs201098477
|
0.00006
|
NM_000071.3(CBS):c.737-10C>T
|
rs546751042
|
0.00006
|
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)
|
rs199907548
|
0.00006
|
NM_000081.4(LYST):c.6149G>A (p.Arg2050Gln)
|
rs376311093
|
0.00006
|
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr)
|
rs368500877
|
0.00006
|
NM_000090.4(COL3A1):c.1156C>T (p.Pro386Ser)
|
rs757192342
|
0.00006
|
NM_000091.5(COL4A3):c.16G>T (p.Ala6Ser)
|
rs770024296
|
0.00006
|
NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp)
|
rs59086055
|
0.00006
|
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
NM_000129.4(F13A1):c.799-13C>T
|
rs188094485
|
0.00006
|
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)
|
rs201494304
|
0.00006
|
NM_000136.3(FANCC):c.767A>G (p.His256Arg)
|
rs730881716
|
0.00006
|
NM_000136.3(FANCC):c.843+5G>A
|
rs369082921
|
0.00006
|
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro)
|
rs377722423
|
0.00006
|
NM_000138.5(FBN1):c.1961-14T>C
|
rs373918202
|
0.00006
|
NM_000138.5(FBN1):c.2921G>A (p.Arg974His)
|
rs763094223
|
0.00006
|
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr)
|
rs376659156
|
0.00006
|
NM_000138.5(FBN1):c.7204+7C>G
|
rs371763964
|
0.00006
|
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg)
|
rs193922233
|
0.00006
|
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)
|
rs149062442
|
0.00006
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
NM_000152.5(GAA):c.1195-15G>A
|
rs373840229
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
NM_000153.4(GALC):c.206G>A (p.Arg69Gln)
|
rs371523347
|
0.00006
|
NM_000158.4(GBE1):c.785G>A (p.Arg262His)
|
rs369574719
|
0.00006
|
NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn)
|
rs367658155
|
0.00006
|
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)
|
rs201135624
|
0.00006
|
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)
|
rs61753793
|
0.00006
|
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)
|
rs376799914
|
0.00006
|
NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr)
|
rs150990541
|
0.00006
|
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)
|
rs199594809
|
0.00006
|
NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp)
|
rs773763465
|
0.00006
|
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp)
|
rs374486449
|
0.00006
|
NM_000190.4(HMBS):c.745G>A (p.Ala249Thr)
|
rs763844879
|
0.00006
|
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)
|
rs138771756
|
0.00006
|
NM_000195.5(HPS1):c.695C>T (p.Ala232Val)
|
rs764420988
|
0.00006
|
NM_000215.4(JAK3):c.2350+6C>T
|
rs200193137
|
0.00006
|
NM_000228.3(LAMB3):c.1721G>A (p.Arg574His)
|
rs370280436
|
0.00006
|
NM_000231.3(SGCG):c.385G>A (p.Gly129Ser)
|
rs747046381
|
0.00006
|
NM_000237.3(LPL):c.1123A>G (p.Asn375Asp)
|
rs780133524
|
0.00006
|
NM_000243.3(MEFV):c.1759+7C>T
|
rs772667365
|
0.00006
|
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)
|
rs104895132
|
0.00006
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
NM_000249.4(MLH1):c.242C>T (p.Thr81Ile)
|
rs63751069
|
0.00006
|
NM_000249.4(MLH1):c.453G>A (p.Thr151=)
|
rs369521379
|
0.00006
|
NM_000251.3(MSH2):c.1077-7A>G
|
rs370807334
|
0.00006
|
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro)
|
rs587779086
|
0.00006
|
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)
|
rs41295296
|
0.00006
|
NM_000251.3(MSH2):c.2634+7C>G
|
rs905179122
|
0.00006
|
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)
|
rs573916965
|
0.00006
|
NM_000256.3(MYBPC3):c.1255C>T (p.Arg419Cys)
|
rs368770848
|
0.00006
|
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
|
rs376754645
|
0.00006
|
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)
|
rs369437262
|
0.00006
|
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg)
|
rs781713344
|
0.00006
|
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr)
|
rs745803719
|
0.00006
|
NM_000291.4(PGK1):c.1192G>A (p.Ala398Thr)
|
rs199644680
|
0.00006
|
NM_000291.4(PGK1):c.375T>A (p.His125Gln)
|
rs142134146
|
0.00006
|
NM_000334.4(SCN4A):c.367G>A (p.Gly123Arg)
|
rs377572814
|
0.00006
|
NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys)
|
rs373118001
|
0.00006
|
NM_000335.5(SCN5A):c.6001G>A (p.Ala2001Thr)
|
rs771018427
|
0.00006
|
NM_000352.6(ABCC8):c.1924-13A>G
|
rs369865762
|
0.00006
|
NM_000352.6(ABCC8):c.2389C>T (p.Arg797Trp)
|
rs142620721
|
0.00006
|
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys)
|
rs200563930
|
0.00006
|
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)
|
rs184709702
|
0.00006
|
NM_000369.5(TSHR):c.1574T>C (p.Phe525Ser)
|
rs200138601
|
0.00006
|
NM_000388.4(CASR):c.3055G>A (p.Gly1019Arg)
|
rs1060502848
|
0.00006
|
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu)
|
rs150401168
|
0.00006
|
NM_000400.4(ERCC2):c.2015C>T (p.Thr672Met)
|
rs200438494
|
0.00006
|
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg)
|
rs370843758
|
0.00006
|
NM_000435.3(NOTCH3):c.5467G>A (p.Asp1823Asn)
|
rs763602970
|
0.00006
|
NM_000441.2(SLC26A4):c.-4+5G>A
|
rs727503425
|
0.00006
|
NM_000447.3(PSEN2):c.53C>T (p.Thr18Met)
|
rs143061887
|
0.00006
|
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn)
|
rs368547224
|
0.00006
|
NM_000455.5(STK11):c.1069G>A (p.Glu357Lys)
|
rs759473833
|
0.00006
|
NM_000465.4(BARD1):c.119C>T (p.Ala40Val)
|
rs71579841
|
0.00006
|
NM_000465.4(BARD1):c.1240A>T (p.Met414Leu)
|
rs759601398
|
0.00006
|
NM_000465.4(BARD1):c.1585C>T (p.Arg529Trp)
|
rs375515606
|
0.00006
|
NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn)
|
rs376256852
|
0.00006
|
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)
|
rs200359745
|
0.00006
|
NM_000492.4(CFTR):c.1934T>A (p.Met645Lys)
|
rs377731410
|
0.00006
|
NM_000492.4(CFTR):c.2145A>C (p.Gln715His)
|
rs141235765
|
0.00006
|
NM_000492.4(CFTR):c.2597G>A (p.Cys866Tyr)
|
rs193922506
|
0.00006
|
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)
|
rs1800123
|
0.00006
|
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn)
|
rs146947665
|
0.00006
|
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile)
|
rs772774651
|
0.00006
|
NM_000492.4(CFTR):c.451C>A (p.Gln151Lys)
|
rs397508720
|
0.00006
|
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg)
|
rs397508788
|
0.00006
|
NM_000492.4(CFTR):c.842T>C (p.Met281Thr)
|
rs397508802
|
0.00006
|
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys)
|
rs112162204
|
0.00006
|
NM_000492.4(CFTR):c.974A>G (p.Tyr325Cys)
|
rs373998255
|
0.00006
|
NM_000493.4(COL10A1):c.737T>C (p.Ile246Thr)
|
rs764388204
|
0.00006
|
NM_000518.5(HBB):c.*132C>A
|
rs1420779550
|
0.00006
|
NM_000518.5(HBB):c.*73T>C
|
rs1265505530
|
0.00006
|
NM_000518.5(HBB):c.316-189A>G
|
rs1034207896
|
0.00006
|
NM_000527.5(LDLR):c.1846-10G>T
|
rs368243304
|
0.00006
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
NM_000527.5(LDLR):c.233G>A (p.Arg78His)
|
rs146675823
|
0.00006
|
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser)
|
rs13306510
|
0.00006
|
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val)
|
rs587780039
|
0.00006
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00006
|
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln)
|
rs368516768
|
0.00006
|
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly)
|
rs143235330
|
0.00006
|
NM_000535.7(PMS2):c.1937G>T (p.Arg646Met)
|
rs372341850
|
0.00006
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)
|
rs587781934
|
0.00006
|
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)
|
rs116314131
|
0.00006
|
NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp)
|
rs766887342
|
0.00006
|
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)
|
rs150993059
|
0.00006
|
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met)
|
rs760235443
|
0.00006
|
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys)
|
rs746818096
|
0.00006
|
NM_000545.8(HNF1A):c.245C>T (p.Thr82Met)
|
rs568123980
|
0.00006
|
NM_000552.5(VWF):c.1324C>T (p.Arg442Cys)
|
rs148247755
|
0.00006
|
NM_000552.5(VWF):c.4747C>T (p.Arg1583Trp)
|
rs61750116
|
0.00006
|
NM_000552.5(VWF):c.7135C>T (p.Arg2379Cys)
|
rs61751283
|
0.00006
|
NM_000942.5(PPIB):c.224A>G (p.Asn75Ser)
|
rs202087362
|
0.00006
|
NM_001003841.3(SLC6A19):c.1117G>A (p.Ala373Thr)
|
rs775834401
|
0.00006
|
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)
|
rs397516999
|
0.00006
|
NM_001018115.3(FANCD2):c.3290G>A (p.Arg1097Gln)
|
rs755748094
|
0.00006
|
NM_001035.3(RYR2):c.10494+13T>G
|
rs796484463
|
0.00006
|
NM_001035.3(RYR2):c.13237C>A (p.Pro4413Thr)
|
rs773441342
|
0.00006
|
NM_001035.3(RYR2):c.4596+4C>T
|
rs397516532
|
0.00006
|
NM_001035.3(RYR2):c.8437-3T>C
|
rs924080705
|
0.00006
|
NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser)
|
rs140523180
|
0.00006
|
NM_001042492.3(NF1):c.5961G>A (p.Gln1987=)
|
rs757536610
|
0.00006
|
NM_001044385.3(TMEM237):c.1160-1G>A
|
rs747465681
|
0.00006
|
NM_001048174.2(MUTYH):c.1381G>A (p.Ala461Thr)
|
rs587782263
|
0.00006
|
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln)
|
rs369677603
|
0.00006
|
NM_001079802.2(FKTN):c.781-9T>C
|
rs370564232
|
0.00006
|
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile)
|
rs755092516
|
0.00006
|
NM_001079872.2(CUL4B):c.*7G>A
|
rs769730471
|
0.00006
|
NM_001080449.3(DNA2):c.1909G>A (p.Val637Ile)
|
rs746522359
|
0.00006
|
NM_001081.4(CUBN):c.7400A>G (p.Asn2467Ser)
|
rs200197243
|
0.00006
|
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val)
|
rs780320724
|
0.00006
|
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)
|
rs121908235
|
0.00006
|
NM_001127222.2(CACNA1A):c.6922G>A (p.Gly2308Ser)
|
rs758924907
|
0.00006
|
NM_001134363.3(RBM20):c.442G>A (p.Gly148Ser)
|
rs375200447
|
0.00006
|
NM_001134407.3(GRIN2A):c.3103G>A (p.Asp1035Asn)
|
rs540445580
|
0.00006
|
NM_001134793.2(HYLS1):c.712C>T (p.Arg238Cys)
|
rs367894289
|
0.00006
|
NM_001143854.2(RPH3A):c.229G>A (p.Gly77Arg)
|
rs375430419
|
0.00006
|
NM_001148.6(ANK2):c.11354A>G (p.Gln3785Arg)
|
rs150808807
|
0.00006
|
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His)
|
rs556930902
|
0.00006
|
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly)
|
rs149430473
|
0.00006
|
NM_001164508.2(NEB):c.78+6G>A
|
rs376085885
|
0.00006
|
NM_001164508.2(NEB):c.7931G>A (p.Arg2644Gln)
|
rs557950249
|
0.00006
|
NM_001182.5(ALDH7A1):c.1150G>A (p.Ala384Thr)
|
rs140947675
|
0.00006
|
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro)
|
rs140102105
|
0.00006
|
NM_001193315.2(VIPAS39):c.1363C>T (p.Arg455Trp)
|
rs149168488
|
0.00006
|
NM_001199397.3(NEK1):c.3437G>A (p.Arg1146Lys)
|
rs751475605
|
0.00006
|
NM_001242896.3(DEPDC5):c.5G>A (p.Arg2Lys)
|
rs756142773
|
0.00006
|
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu)
|
rs199696688
|
0.00006
|
NM_001257096.2(PAX1):c.*204G>A
|
rs748872583
|
0.00006
|
NM_001267550.2(TTN):c.102398T>C (p.Ile34133Thr)
|
rs764179161
|
0.00006
|
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys)
|
rs777626473
|
0.00006
|
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)
|
rs727504476
|
0.00006
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00006
|
NM_001267550.2(TTN):c.17821A>G (p.Ile5941Val)
|
rs397517487
|
0.00006
|
NM_001267550.2(TTN):c.19541G>T (p.Trp6514Leu)
|
rs760007747
|
0.00006
|
NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys)
|
rs754885396
|
0.00006
|
NM_001267550.2(TTN):c.24785-16A>G
|
rs201107387
|
0.00006
|
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser)
|
rs369385294
|
0.00006
|
NM_001267550.2(TTN):c.3514C>A (p.Leu1172Ile)
|
rs375735354
|
0.00006
|
NM_001267550.2(TTN):c.39547+19T>C
|
rs559113689
|
0.00006
|
NM_001267550.2(TTN):c.43970G>C (p.Cys14657Ser)
|
rs774245300
|
0.00006
|
NM_001267550.2(TTN):c.4462A>G (p.Thr1488Ala)
|
rs146732280
|
0.00006
|
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu)
|
rs200931793
|
0.00006
|
NM_001267550.2(TTN):c.49367G>A (p.Arg16456His)
|
rs768914789
|
0.00006
|
NM_001267550.2(TTN):c.51704G>A (p.Arg17235Gln)
|
rs573695008
|
0.00006
|
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)
|
rs72646819
|
0.00006
|
NM_001267550.2(TTN):c.55661G>A (p.Arg18554Gln)
|
rs202126861
|
0.00006
|
NM_001267550.2(TTN):c.57382A>G (p.Met19128Val)
|
rs138367112
|
0.00006
|
NM_001267550.2(TTN):c.58732+6C>T
|
rs778350235
|
0.00006
|
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr)
|
rs376465623
|
0.00006
|
NM_001267550.2(TTN):c.67014C>A (p.Asn22338Lys)
|
rs761241302
|
0.00006
|
NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile)
|
rs183056142
|
0.00006
|
NM_001267550.2(TTN):c.69103G>A (p.Val23035Ile)
|
rs200878877
|
0.00006
|
NM_001267550.2(TTN):c.74504A>G (p.Tyr24835Cys)
|
rs201724962
|
0.00006
|
NM_001267550.2(TTN):c.75458C>T (p.Ser25153Leu)
|
rs368058280
|
0.00006
|
NM_001267550.2(TTN):c.80733T>G (p.Ile26911Met)
|
rs371965190
|
0.00006
|
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu)
|
rs190721759
|
0.00006
|
NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln)
|
rs764437671
|
0.00006
|
NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn)
|
rs757300589
|
0.00006
|
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn)
|
rs200621611
|
0.00006
|
NM_001267550.2(TTN):c.9512A>G (p.Asn3171Ser)
|
rs139992576
|
0.00006
|
NM_001278716.2(FBXL4):c.1622C>T (p.Thr541Ile)
|
rs1391578014
|
0.00006
|
NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr)
|
rs140400648
|
0.00006
|
NM_001360.3(DHCR7):c.1406G>A (p.Arg469His)
|
rs201150384
|
0.00006
|
NM_001365276.2(TNXB):c.85C>T (p.Arg29Trp)
|
rs368512272
|
0.00006
|
NM_001365951.3(KIF1B):c.4019C>A (p.Ser1340Tyr)
|
rs202229713
|
0.00006
|
NM_001367624.2(ZNF469):c.992C>T (p.Ala331Val)
|
rs149485731
|
0.00006
|
NM_001369268.1(ACAN):c.551C>T (p.Thr184Met)
|
rs771509541
|
0.00006
|
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His)
|
rs770380730
|
0.00006
|
NM_001377304.1(GFI1B):c.550C>T (p.Arg184Cys)
|
rs771408008
|
0.00006
|
NM_001378452.1(ITPR1):c.7630G>A (p.Val2544Ile)
|
rs371726673
|
0.00006
|
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp)
|
rs573748379
|
0.00006
|
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr)
|
rs757364858
|
0.00006
|
NM_001378454.1(ALMS1):c.1237+9C>G
|
rs201471551
|
0.00006
|
NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu)
|
rs202002052
|
0.00006
|
NM_001378454.1(ALMS1):c.2570C>T (p.Ser857Phe)
|
rs538743256
|
0.00006
|
NM_001378454.1(ALMS1):c.3038A>G (p.Tyr1013Cys)
|
rs371893544
|
0.00006
|
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr)
|
rs373638043
|
0.00006
|
NM_001378778.1(MPDZ):c.2776G>A (p.Ala926Thr)
|
rs144992780
|
0.00006
|
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=)
|
rs368308772
|
0.00006
|
NM_001386795.1(DTNA):c.1915A>G (p.Asn639Asp)
|
rs779045040
|
0.00006
|
NM_001457.4(FLNB):c.1688T>C (p.Ile563Thr)
|
rs145891515
|
0.00006
|
NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn)
|
rs777061037
|
0.00006
|
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys)
|
rs374973240
|
0.00006
|
NM_001606.5(ABCA2):c.746G>A (p.Arg249Gln)
|
rs752675380
|
0.00006
|
NM_001677.4(ATP1B1):c.781G>A (p.Val261Ile)
|
rs772382642
|
0.00006
|
NM_001846.4(COL4A2):c.1465G>A (p.Asp489Asn)
|
rs777186602
|
0.00006
|
NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr)
|
rs537170841
|
0.00006
|
NM_001876.4(CPT1A):c.1496C>T (p.Ala499Val)
|
rs753866589
|
0.00006
|
NM_001918.5(DBT):c.1281+5A>G
|
rs199571242
|
0.00006
|
NM_001943.5(DSG2):c.513G>T (p.Leu171Phe)
|
rs199926617
|
0.00006
|
NM_002025.4(AFF2):c.896C>T (p.Pro299Leu)
|
rs368459122
|
0.00006
|
NM_002225.5(IVD):c.490A>G (p.Met164Val)
|
rs574434706
|
0.00006
|
NM_002427.4(MMP13):c.1117C>A (p.Leu373Met)
|
rs112373498
|
0.00006
|
NM_002471.4(MYH6):c.2600A>G (p.Lys867Arg)
|
rs143284278
|
0.00006
|
NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys)
|
rs397516762
|
0.00006
|
NM_002474.3(MYH11):c.3858+13C>T
|
rs375738696
|
0.00006
|
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr)
|
rs587781881
|
0.00006
|
NM_002637.4(PHKA1):c.2339C>T (p.Ala780Val)
|
rs782403774
|
0.00006
|
NM_002691.4(POLD1):c.301A>T (p.Ile101Phe)
|
rs140858857
|
0.00006
|
NM_002769.5(PRSS1):c.541A>G (p.Ser181Gly)
|
rs376907511
|
0.00006
|
NM_002834.5(PTPN11):c.853+17C>T
|
rs746692191
|
0.00006
|
NM_002878.4(RAD51D):c.629C>T (p.Ala210Val)
|
rs376855484
|
0.00006
|
NM_002972.4(SBF1):c.956A>G (p.His319Arg)
|
rs372068556
|
0.00006
|
NM_003701.4(TNFSF11):c.544G>A (p.Val182Met)
|
rs139991365
|
0.00006
|
NM_003722.5(TP63):c.2021G>A (p.Arg674His)
|
rs34713855
|
0.00006
|
NM_003742.4(ABCB11):c.3407A>G (p.Lys1136Arg)
|
rs752974260
|
0.00006
|
NM_003793.4(CTSF):c.734G>A (p.Arg245His)
|
rs767931300
|
0.00006
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
0.00006
|
NM_004006.3(DMD):c.11041A>T (p.Arg3681Ter)
|
rs1477369230
|
0.00006
|
NM_004006.3(DMD):c.8219A>G (p.Asp2740Gly)
|
rs771051897
|
0.00006
|
NM_004333.6(BRAF):c.505-12A>G
|
rs377433501
|
0.00006
|
NM_004333.6(BRAF):c.52C>G (p.Leu18Val)
|
rs1222192591
|
0.00006
|
NM_004341.5(CAD):c.5158G>A (p.Glu1720Lys)
|
rs749076924
|
0.00006
|
NM_004360.5(CDH1):c.1241C>A (p.Thr414Asn)
|
rs755571454
|
0.00006
|
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp)
|
rs587780119
|
0.00006
|
NM_004360.5(CDH1):c.846G>A (p.Met282Ile)
|
rs200932258
|
0.00006
|
NM_004366.6(CLCN2):c.2156C>T (p.Ser719Leu)
|
rs138573287
|
0.00006
|
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg)
|
rs201442000
|
0.00006
|
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys)
|
rs138053929
|
0.00006
|
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys)
|
rs773113261
|
0.00006
|
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn)
|
rs138588403
|
0.00006
|
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr)
|
rs1131691336
|
0.00006
|
NM_004655.4(AXIN2):c.1201-7C>T
|
rs760667639
|
0.00006
|
NM_004667.6(HERC2):c.4091G>A (p.Cys1364Tyr)
|
rs923003032
|
0.00006
|
NM_004947.5(DOCK3):c.4825C>T (p.Arg1609Trp)
|
rs372827222
|
0.00006
|
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser)
|
rs764599897
|
0.00006
|
NM_005562.3(LAMC2):c.3014A>G (p.Gln1005Arg)
|
rs781587803
|
0.00006
|
NM_005591.4(MRE11):c.358A>G (p.Ile120Val)
|
rs372131911
|
0.00006
|
NM_005591.4(MRE11):c.391G>A (p.Asp131Asn)
|
rs368403414
|
0.00006
|
NM_005629.4(SLC6A8):c.1025T>C (p.Ile342Thr)
|
rs781962672
|
0.00006
|
NM_005677.4(COLQ):c.1019G>A (p.Arg340His)
|
rs375225755
|
0.00006
|
NM_006182.4(DDR2):c.187C>G (p.Leu63Val)
|
rs144594252
|
0.00006
|
NM_006231.4(POLE):c.3459+8C>T
|
rs375852759
|
0.00006
|
NM_006231.4(POLE):c.6262C>T (p.Pro2088Ser)
|
rs749342382
|
0.00006
|
NM_006258.4(PRKG1):c.1928G>A (p.Arg643Lys)
|
rs770812712
|
0.00006
|
NM_006270.5(RRAS):c.409G>A (p.Val137Ile)
|
rs757080959
|
0.00006
|
NM_006502.3(POLH):c.2074A>G (p.Thr692Ala)
|
rs199562456
|
0.00006
|
NM_006502.3(POLH):c.332G>A (p.Arg111His)
|
rs758423288
|
0.00006
|
NM_006506.5(RASA2):c.-15G>C
|
rs767937276
|
0.00006
|
NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser)
|
rs368649599
|
0.00006
|
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)
|
rs550922200
|
0.00006
|
NM_006767.4(LZTR1):c.372C>T (p.Val124=)
|
rs371891909
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys)
|
rs138040612
|
0.00006
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00006
|
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)
|
rs137853010
|
0.00006
|
NM_007294.4(BRCA1):c.135-3T>C
|
rs759417413
|
0.00006
|
NM_007294.4(BRCA1):c.1747A>G (p.Lys583Glu)
|
rs80356928
|
0.00006
|
NM_007294.4(BRCA1):c.1802A>G (p.His601Arg)
|
rs371631805
|
0.00006
|
NM_007294.4(BRCA1):c.3346G>C (p.Val1116Leu)
|
rs55909400
|
0.00006
|
NM_012123.4(MTO1):c.1996C>T (p.Arg666Ter)
|
rs200217371
|
0.00006
|
NM_013339.4(ALG6):c.338G>A (p.Arg113His)
|
rs768372697
|
0.00006
|
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr)
|
rs367857040
|
0.00006
|
NM_014780.5(CUL7):c.4625G>A (p.Arg1542Gln)
|
rs189054608
|
0.00006
|
NM_014795.4(ZEB2):c.2275A>G (p.Arg759Gly)
|
rs748354087
|
0.00006
|
NM_015311.3(OBSL1):c.1388G>A (p.Arg463His)
|
rs767476866
|
0.00006
|
NM_015443.4(KANSL1):c.1277G>A (p.Arg426His)
|
rs764291274
|
0.00006
|
NM_015627.3(LDLRAP1):c.747+13G>A
|
rs202247605
|
0.00006
|
NM_015910.7(WDPCP):c.1163G>A (p.Ser388Asn)
|
rs780625068
|
0.00006
|
NM_016955.4(SEPSECS):c.388+3A>G
|
rs757504141
|
0.00006
|
NM_017534.6(MYH2):c.5041G>A (p.Glu1681Lys)
|
rs144934663
|
0.00006
|
NM_017882.3(CLN6):c.278C>T (p.Thr93Met)
|
rs150001589
|
0.00006
|
NM_017882.3(CLN6):c.728C>T (p.Ala243Val)
|
rs767164948
|
0.00006
|
NM_018006.5(TRMU):c.82+5G>C
|
rs771076163
|
0.00006
|
NM_018112.3(TMEM38B):c.319T>C (p.Tyr107His)
|
rs746623351
|
0.00006
|
NM_018896.5(CACNA1G):c.3553C>T (p.Arg1185Cys)
|
rs573971701
|
0.00006
|
NM_018979.4(WNK1):c.6616G>C (p.Val2206Leu)
|
rs141160595
|
0.00006
|
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val)
|
rs199956627
|
0.00006
|
NM_020117.11(LARS1):c.967A>G (p.Ile323Val)
|
rs754428997
|
0.00006
|
NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val)
|
rs376701259
|
0.00006
|
NM_020365.5(EIF2B3):c.22A>T (p.Met8Leu)
|
rs182877101
|
0.00006
|
NM_020533.3(MCOLN1):c.1120G>A (p.Gly374Ser)
|
rs749914804
|
0.00006
|
NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser)
|
rs387907308
|
0.00006
|
NM_021098.3(CACNA1H):c.4567-4A>G
|
rs1055632728
|
0.00006
|
NM_022124.6(CDH23):c.419G>A (p.Arg140His)
|
rs201361229
|
0.00006
|
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys)
|
rs368743687
|
0.00006
|
NM_024120.5(NDUFAF5):c.519+4A>G
|
rs373951216
|
0.00006
|
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr)
|
rs149390820
|
0.00006
|
NM_024649.5(BBS1):c.1535G>A (p.Arg512His)
|
rs202205304
|
0.00006
|
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser)
|
rs200048921
|
0.00006
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
NM_024782.3(NHEJ1):c.805G>T (p.Ala269Ser)
|
rs150272598
|
0.00006
|
NM_024782.3(NHEJ1):c.806C>T (p.Ala269Val)
|
rs143112457
|
0.00006
|
NM_025219.3(DNAJC5):c.419C>T (p.Ala140Val)
|
rs144915847
|
0.00006
|
NM_030662.4(MAP2K2):c.451-7C>T
|
rs780396876
|
0.00006
|
NM_030662.4(MAP2K2):c.604G>A (p.Val202Met)
|
rs769471250
|
0.00006
|
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg)
|
rs75218052
|
0.00006
|
NM_030787.4(CFHR5):c.242C>T (p.Pro81Leu)
|
rs544857720
|
0.00006
|
NM_032043.3(BRIP1):c.1629-3T>C
|
rs587780828
|
0.00006
|
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu)
|
rs147755155
|
0.00006
|
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)
|
rs587780235
|
0.00006
|
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser)
|
rs587780251
|
0.00006
|
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)
|
rs201047375
|
0.00006
|
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)
|
rs200058876
|
0.00006
|
NM_032520.5(GNPTG):c.74C>A (p.Ala25Glu)
|
rs137853826
|
0.00006
|
NM_032588.4(TRIM63):c.224G>A (p.Cys75Tyr)
|
rs200811483
|
0.00006
|
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln)
|
rs148458576
|
0.00006
|
NM_053025.4(MYLK):c.1798G>A (p.Val600Ile)
|
rs766027720
|
0.00006
|
NM_053025.4(MYLK):c.4268C>T (p.Thr1423Met)
|
rs776975714
|
0.00006
|
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly)
|
rs587781383
|
0.00006
|
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)
|
rs201523760
|
0.00006
|
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu)
|
rs573992101
|
0.00006
|
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp)
|
rs201210830
|
0.00006
|
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu)
|
rs749294509
|
0.00006
|
NM_144670.6(A2ML1):c.1595C>T (p.Pro532Leu)
|
rs373823890
|
0.00006
|
NM_144773.4(PROKR2):c.1058G>A (p.Arg353His)
|
rs576243101
|
0.00006
|
NM_144773.4(PROKR2):c.349C>T (p.Arg117Trp)
|
rs142008002
|
0.00006
|
NM_144991.3(TSPEAR):c.730C>T (p.Arg244Trp)
|
rs372173836
|
0.00006
|
NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln)
|
rs201573515
|
0.00006
|
NM_152594.3(SPRED1):c.1289G>C (p.Gly430Ala)
|
rs749389617
|
0.00006
|
NM_153704.6(TMEM67):c.651+5G>A
|
rs970248353
|
0.00006
|
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)
|
rs202036490
|
0.00006
|
NM_153717.3(EVC):c.940-150T>C
|
rs576076928
|
0.00006
|
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)
|
rs201583907
|
0.00006
|
NM_170707.4(LMNA):c.937-7C>G
|
rs267607681
|
0.00006
|
NM_173660.5(DOK7):c.973C>T (p.Arg325Trp)
|
rs376280466
|
0.00006
|
NM_174936.4(PCSK9):c.1300C>T (p.Arg434Trp)
|
rs757143429
|
0.00006
|
NM_174936.4(PCSK9):c.1384T>C (p.Ser462Pro)
|
rs746115963
|
0.00006
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly)
|
rs193922472
|
0.00006
|
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr)
|
rs143700362
|
0.00006
|
NM_177924.5(ASAH1):c.968G>A (p.Arg323His)
|
rs144363797
|
0.00006
|
NM_182914.3(SYNE2):c.4252G>C (p.Val1418Leu)
|
rs770898049
|
0.00006
|
NM_199242.3(UNC13D):c.32G>C (p.Arg11Pro)
|
rs574927621
|
0.00006
|
NM_206933.4(USH2A):c.10451G>A (p.Arg3484Gln)
|
rs771999994
|
0.00006
|
NM_206933.4(USH2A):c.1143+12C>T
|
rs727505167
|
0.00006
|
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)
|
rs111033419
|
0.00006
|
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)
|
rs111033529
|
0.00006
|
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys)
|
rs200696560
|
0.00006
|
NM_207346.3(TSEN54):c.758G>A (p.Gly253Asp)
|
rs369801130
|
0.00006
|
NM_207346.3(TSEN54):c.881G>A (p.Arg294Gln)
|
rs150805182
|
0.00006
|
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser)
|
rs765423779
|
0.00005
|
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys)
|
rs782376163
|
0.00005
|
NM_000033.4(ABCD1):c.854G>A (p.Arg285His)
|
rs782635828
|
0.00005
|
NM_000038.6(APC):c.2438A>G (p.Asn813Ser)
|
rs201522866
|
0.00005
|
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)
|
rs587782397
|
0.00005
|
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)
|
rs55723361
|
0.00005
|
NM_000051.4(ATM):c.3016A>G (p.Met1006Val)
|
rs139893395
|
0.00005
|
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00005
|
NM_000051.4(ATM):c.6160G>T (p.Ala2054Ser)
|
rs587779853
|
0.00005
|
NM_000051.4(ATM):c.9031A>G (p.Met3011Val)
|
rs372795527
|
0.00005
|
NM_000059.4(BRCA2):c.1694C>T (p.Ala565Val)
|
rs55821741
|
0.00005
|
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg)
|
rs28897720
|
0.00005
|
NM_000059.4(BRCA2):c.5503A>G (p.Asn1835Asp)
|
rs80358771
|
0.00005
|
NM_000059.4(BRCA2):c.5741G>C (p.Ser1914Thr)
|
rs80358801
|
0.00005
|
NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn)
|
rs56324666
|
0.00005
|
NM_000059.4(BRCA2):c.695A>G (p.Tyr232Cys)
|
rs372188754
|
0.00005
|
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser)
|
rs398122714
|
0.00005
|
NM_000059.4(BRCA2):c.9353T>C (p.Met3118Thr)
|
rs56204128
|
0.00005
|
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg)
|
rs539765620
|
0.00005
|
NM_000117.3(EMD):c.215A>T (p.Asp72Val)
|
rs794729021
|
0.00005
|
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg)
|
rs141422170
|
0.00005
|
NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys)
|
rs730881723
|
0.00005
|
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met)
|
rs149917017
|
0.00005
|
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)
|
rs587779905
|
0.00005
|
NM_000138.5(FBN1):c.346+16C>T
|
rs369090026
|
0.00005
|
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser)
|
rs746127796
|
0.00005
|
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)
|
rs193922245
|
0.00005
|
NM_000152.5(GAA):c.1075+9T>C
|
rs751918816
|
0.00005
|
NM_000152.5(GAA):c.2725G>A (p.Val909Met)
|
rs138407065
|
0.00005
|
NM_000154.2(GALK1):c.830G>A (p.Arg277Gln)
|
rs370029131
|
0.00005
|
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu)
|
rs201518545
|
0.00005
|
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)
|
rs730881793
|
0.00005
|
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met)
|
rs267608089
|
0.00005
|
NM_000182.5(HADHA):c.764A>G (p.Lys255Arg)
|
rs754673524
|
0.00005
|
NM_000195.5(HPS1):c.2057A>G (p.Gln686Arg)
|
rs372189642
|
0.00005
|
NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln)
|
rs145974930
|
0.00005
|
NM_000219.6(KCNE1):c.95G>A (p.Arg32His)
|
rs17857111
|
0.00005
|
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu)
|
rs76420733
|
0.00005
|
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala)
|
rs778686119
|
0.00005
|
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)
|
rs756975501
|
0.00005
|
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)
|
rs63750760
|
0.00005
|
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)
|
rs63750430
|
0.00005
|
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)
|
rs35045067
|
0.00005
|
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)
|
rs371614039
|
0.00005
|
NM_000251.3(MSH2):c.2267C>G (p.Thr756Ser)
|
rs372383829
|
0.00005
|
NM_000251.3(MSH2):c.2694A>C (p.Glu898Asp)
|
rs890670494
|
0.00005
|
NM_000256.3(MYBPC3):c.3190+4C>T
|
rs571457875
|
0.00005
|
NM_000257.4(MYH7):c.5559+4C>T
|
rs727504319
|
0.00005
|
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp)
|
rs747529593
|
0.00005
|
NM_000287.4(PEX6):c.2891dup (p.Gln965fs)
|
rs753862792
|
0.00005
|
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)
|
rs749720760
|
0.00005
|
NM_000314.8(PTEN):c.-837C>T
|
rs786204940
|
0.00005
|
NM_000329.3(RPE65):c.254G>A (p.Arg85His)
|
rs61752870
|
0.00005
|
NM_000335.5(SCN5A):c.3337G>A (p.Asp1113Asn)
|
rs199473195
|
0.00005
|
NM_000335.5(SCN5A):c.3664-7T>A
|
rs373156650
|
0.00005
|
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn)
|
rs145265791
|
0.00005
|
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg)
|
rs375144225
|
0.00005
|
NM_000371.4(TTR):c.385G>A (p.Ala129Thr)
|
rs267607159
|
0.00005
|
NM_000426.4(LAMA2):c.7681G>A (p.Gly2561Ser)
|
rs200341138
|
0.00005
|
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn)
|
rs199567559
|
0.00005
|
NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser)
|
rs750834241
|
0.00005
|
NM_000451.4(SHOX):c.-65C>A
|
rs922062046
|
0.00005
|
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp)
|
rs587780715
|
0.00005
|
NM_000465.4(BARD1):c.2161G>A (p.Ala721Thr)
|
rs554708247
|
0.00005
|
NM_000465.4(BARD1):c.499C>T (p.Pro167Ser)
|
rs767584985
|
0.00005
|
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)
|
rs200059956
|
0.00005
|
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
NM_000492.4(CFTR):c.1691A>G (p.Lys564Arg)
|
rs375325315
|
0.00005
|
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)
|
rs201295415
|
0.00005
|
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr)
|
rs201444561
|
0.00005
|
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val)
|
rs148604667
|
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_000497.4(CYP11B1):c.457G>A (p.Ala153Thr)
|
rs200151403
|
0.00005
|
NM_000518.5(HBB):c.316-30A>C
|
rs193922558
|
0.00005
|
NM_000527.5(LDLR):c.1988-19T>C
|
rs369606726
|
0.00005
|
NM_000535.7(PMS2):c.101G>T (p.Ser34Ile)
|
rs370612538
|
0.00005
|
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly)
|
rs144389038
|
0.00005
|
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser)
|
rs376258383
|
0.00005
|
NM_000535.7(PMS2):c.71A>C (p.His24Pro)
|
rs139233015
|
0.00005
|
NM_000540.3(RYR1):c.11269A>G (p.Met3757Val)
|
rs189249768
|
0.00005
|
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val)
|
rs397515296
|
0.00005
|
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg)
|
rs186867242
|
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_001005242.3(PKP2):c.1379-2072C>T
|
rs758950276
|
0.00005
|
NM_001005242.3(PKP2):c.1809T>G (p.Cys603Trp)
|
rs767935208
|
0.00005
|
NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys)
|
rs564987195
|
0.00005
|
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val)
|
rs62640587
|
0.00005
|
NM_001036.6(RYR3):c.6452C>T (p.Ala2151Val)
|
rs748718316
|
0.00005
|
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)
|
rs370789267
|
0.00005
|
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)
|
rs138227618
|
0.00005
|
NM_001127222.2(CACNA1A):c.6770C>T (p.Ala2257Val)
|
rs755099305
|
0.00005
|
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp)
|
rs375698433
|
0.00005
|
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)
|
rs779241085
|
0.00005
|
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln)
|
rs749038401
|
0.00005
|
NM_001142800.2(EYS):c.904C>T (p.Leu302Phe)
|
rs202064483
|
0.00005
|
NM_001164508.2(NEB):c.2819A>G (p.Tyr940Cys)
|
rs369875205
|
0.00005
|
NM_001174089.2(SLC4A11):c.430G>A (p.Ala144Thr)
|
rs752287261
|
0.00005
|
NM_001243279.3(ACSF3):c.1670C>T (p.Pro557Leu)
|
rs780364085
|
0.00005
|
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys)
|
rs570233664
|
0.00005
|
NM_001244710.2(GFPT1):c.1324+3G>A
|
rs367865496
|
0.00005
|
NM_001267550.2(TTN):c.101213G>A (p.Arg33738His)
|
rs192391568
|
0.00005
|
NM_001267550.2(TTN):c.105424G>A (p.Glu35142Lys)
|
rs765274398
|
0.00005
|
NM_001267550.2(TTN):c.105521G>A (p.Arg35174His)
|
rs756575734
|
0.00005
|
NM_001267550.2(TTN):c.16550C>T (p.Ser5517Leu)
|
rs769165258
|
0.00005
|
NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln)
|
rs375652574
|
0.00005
|
NM_001267550.2(TTN):c.2506G>A (p.Gly836Ser)
|
rs751157908
|
0.00005
|
NM_001267550.2(TTN):c.33328C>T (p.Pro11110Ser)
|
rs565328082
|
0.00005
|
NM_001267550.2(TTN):c.415C>T (p.Arg139Trp)
|
rs752970602
|
0.00005
|
NM_001267550.2(TTN):c.51185G>A (p.Ser17062Asn)
|
rs876658064
|
0.00005
|
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln)
|
rs376932266
|
0.00005
|
NM_001267550.2(TTN):c.54999A>T (p.Glu18333Asp)
|
rs764950995
|
0.00005
|
NM_001267550.2(TTN):c.57593A>G (p.Asn19198Ser)
|
rs199787097
|
0.00005
|
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly)
|
rs755949982
|
0.00005
|
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln)
|
rs373062007
|
0.00005
|
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr)
|
rs527704660
|
0.00005
|
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys)
|
rs201614524
|
0.00005
|
NM_001267550.2(TTN):c.899C>A (p.Thr300Asn)
|
rs376737897
|
0.00005
|
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp)
|
rs397517755
|
0.00005
|
NM_001267550.2(TTN):c.93130G>A (p.Gly31044Ser)
|
rs750213547
|
0.00005
|
NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg)
|
rs147903846
|
0.00005
|
NM_001271938.2(MEGF8):c.4858G>A (p.Val1620Ile)
|
rs748419823
|
0.00005
|
NM_001271938.2(MEGF8):c.7468C>T (p.Arg2490Cys)
|
rs368024107
|
0.00005
|
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys)
|
rs778692687
|
0.00005
|
NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys)
|
rs531038145
|
0.00005
|
NM_001367624.2(ZNF469):c.6880G>A (p.Gly2294Arg)
|
rs773187176
|
0.00005
|
NM_001367624.2(ZNF469):c.9050G>A (p.Ser3017Asn)
|
rs1383712865
|
0.00005
|
NM_001370100.5(ZMYND11):c.1456C>T (p.His486Tyr)
|
rs964671911
|
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_001371986.1(UNC80):c.9224C>T (p.Pro3075Leu)
|
rs544636492
|
0.00005
|
NM_001374385.1(ATP8B1):c.1681G>A (p.Ala561Thr)
|
rs372806297
|
0.00005
|
NM_001378454.1(ALMS1):c.3860C>T (p.Ser1287Leu)
|
rs375231416
|
0.00005
|
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala)
|
rs770424780
|
0.00005
|
NM_001378454.1(ALMS1):c.5447A>G (p.Tyr1816Cys)
|
rs780110659
|
0.00005
|
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile)
|
rs373286582
|
0.00005
|
NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr)
|
rs200432874
|
0.00005
|
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly)
|
rs562740927
|
0.00005
|
NM_001655.5(ARCN1):c.1301G>A (p.Arg434Gln)
|
rs146311433
|
0.00005
|
NM_001852.4(COL9A2):c.682C>T (p.Pro228Ser)
|
rs370064150
|
0.00005
|
NM_002160.4(TNC):c.3413C>T (p.Thr1138Met)
|
rs371671996
|
0.00005
|
NM_002185.5(IL7R):c.617G>A (p.Arg206Gln)
|
rs193922644
|
0.00005
|
NM_002230.4(JUP):c.412G>A (p.Glu138Lys)
|
rs150245906
|
0.00005
|
NM_002334.4(LRP4):c.5653C>T (p.Arg1885Ter)
|
rs147138337
|
0.00005
|
NM_002471.4(MYH6):c.3785G>A (p.Arg1262His)
|
rs544358806
|
0.00005
|
NM_002485.5(NBN):c.52C>A (p.Leu18Ile)
|
rs587781939
|
0.00005
|
NM_002485.5(NBN):c.664T>C (p.Phe222Leu)
|
rs541992192
|
0.00005
|
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln)
|
rs202007590
|
0.00005
|
NM_002691.4(POLD1):c.2972G>A (p.Cys991Tyr)
|
rs775264944
|
0.00005
|
NM_002778.4(PSAP):c.797C>T (p.Ala266Val)
|
rs772161921
|
0.00005
|
NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met)
|
rs150116445
|
0.00005
|
NM_003322.6(TULP1):c.539G>A (p.Arg180His)
|
rs146004382
|
0.00005
|
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu)
|
rs374572413
|
0.00005
|
NM_004006.3(DMD):c.10442A>G (p.Gln3481Arg)
|
rs368594777
|
0.00005
|
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn)
|
rs771877780
|
0.00005
|
NM_004082.5(DCTN1):c.3215C>G (p.Ala1072Gly)
|
rs780875333
|
0.00005
|
NM_004333.6(BRAF):c.1992+8T>C
|
rs753545284
|
0.00005
|
NM_004341.5(CAD):c.6367G>A (p.Gly2123Ser)
|
rs367846045
|
0.00005
|
NM_004360.5(CDH1):c.1019C>T (p.Thr340Met)
|
rs61747631
|
0.00005
|
NM_004360.5(CDH1):c.1988A>G (p.Tyr663Cys)
|
rs372182377
|
0.00005
|
NM_004385.5(VCAN):c.9049G>C (p.Ala3017Pro)
|
rs774896703
|
0.00005
|
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs)
|
rs778545351
|
0.00005
|
NM_004525.3(LRP2):c.11461G>A (p.Ala3821Thr)
|
rs778317120
|
0.00005
|
NM_004655.4(AXIN2):c.1450G>A (p.Gly484Ser)
|
rs371446806
|
0.00005
|
NM_004750.5(CRLF1):c.242G>A (p.Arg81His)
|
rs104894670
|
0.00005
|
NM_005005.3(NDUFB9):c.1A>G (p.Met1Val)
|
rs369824948
|
0.00005
|
NM_005045.4(RELN):c.9478C>G (p.Leu3160Val)
|
rs185075003
|
0.00005
|
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp)
|
rs112330156
|
0.00005
|
NM_005502.4(ABCA1):c.3902-19C>T
|
rs868826271
|
0.00005
|
NM_005502.4(ABCA1):c.5757+12C>T
|
rs769533549
|
0.00005
|
NM_005633.4(SOS1):c.2312T>C (p.Ile771Thr)
|
rs557328600
|
0.00005
|
NM_005732.4(RAD50):c.2750C>T (p.Thr917Ile)
|
rs562172843
|
0.00005
|
NM_005732.4(RAD50):c.3230G>A (p.Arg1077Gln)
|
rs104895051
|
0.00005
|
NM_005732.4(RAD50):c.3496C>T (p.Arg1166Trp)
|
rs587782577
|
0.00005
|
NM_005751.5(AKAP9):c.6376A>C (p.Ser2126Arg)
|
rs775673048
|
0.00005
|
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu)
|
rs377026877
|
0.00005
|
NM_006231.4(POLE):c.1735C>T (p.Arg579Cys)
|
rs116260568
|
0.00005
|
NM_006506.5(RASA2):c.2226A>T (p.Ala742=)
|
rs754617499
|
0.00005
|
NM_006734.4(HIVEP2):c.5621-7G>T
|
rs749037306
|
0.00005
|
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)
|
rs149850248
|
0.00005
|
NM_006767.4(LZTR1):c.1785+19G>A
|
rs777075178
|
0.00005
|
NM_006796.3(AFG3L2):c.1762G>A (p.Ala588Thr)
|
rs374828650
|
0.00005
|
NM_006904.7(PRKDC):c.12343A>G (p.Asn4115Asp)
|
rs529354763
|
0.00005
|
NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg)
|
rs34575645
|
0.00005
|
NM_006949.4(STXBP2):c.1356+5G>A
|
rs748635794
|
0.00005
|
NM_007078.3(LDB3):c.1547G>A (p.Arg516Gln)
|
rs762985970
|
0.00005
|
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)
|
rs201727685
|
0.00005
|
NM_007294.4(BRCA1):c.2387C>T (p.Thr796Ile)
|
rs80357364
|
0.00005
|
NM_007315.4(STAT1):c.1582+7G>A
|
rs762378892
|
0.00005
|
NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro)
|
rs145907585
|
0.00005
|
NM_013382.7(POMT2):c.1124C>T (p.Thr375Ile)
|
rs542912704
|
0.00005
|
NM_014008.5(CCDC22):c.1600C>T (p.Arg534Trp)
|
rs148054424
|
0.00005
|
NM_014009.4(FOXP3):c.816+6C>T
|
rs781919619
|
0.00005
|
NM_014363.6(SACS):c.11363G>A (p.Arg3788His)
|
rs147369196
|
0.00005
|
NM_015215.4(CAMTA1):c.718G>A (p.Val240Met)
|
rs755920468
|
0.00005
|
NM_015311.3(OBSL1):c.4420C>T (p.Arg1474Ter)
|
rs764560783
|
0.00005
|
NM_015466.4(PTPN23):c.2689C>T (p.Pro897Ser)
|
rs375853008
|
0.00005
|
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp)
|
rs182489063
|
0.00005
|
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)
|
rs760826751
|
0.00005
|
NM_017534.6(MYH2):c.1535C>T (p.Thr512Met)
|
rs376478405
|
0.00005
|
NM_018062.4(FANCL):c.1051_1052dup (p.Ser351fs)
|
rs750871999
|
0.00005
|
NM_018062.4(FANCL):c.374+18_374+29del
|
rs775890254
|
0.00005
|
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe)
|
rs550485638
|
0.00005
|
NM_020366.4(RPGRIP1):c.2512A>G (p.Ile838Val)
|
rs772480252
|
0.00005
|
NM_020762.4(SRGAP1):c.2734A>G (p.Arg912Gly)
|
rs572030421
|
0.00005
|
NM_020778.5(ALPK3):c.4575G>T (p.Lys1525Asn)
|
rs116112514
|
0.00005
|
NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu)
|
rs376835062
|
0.00005
|
NM_021913.5(AXL):c.236C>T (p.Ala79Val)
|
rs776776986
|
0.00005
|
NM_021927.3(GUF1):c.715A>G (p.Ile239Val)
|
rs7666143
|
0.00005
|
NM_022124.6(CDH23):c.3407G>A (p.Arg1136His)
|
rs753822806
|
0.00005
|
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)
|
rs146434474
|
0.00005
|
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu)
|
rs730881894
|
0.00005
|
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His)
|
rs758453972
|
0.00005
|
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu)
|
rs202220799
|
0.00005
|
NM_030777.4(SLC2A10):c.395G>A (p.Arg132Gln)
|
rs376346077
|
0.00005
|
NM_032043.3(BRIP1):c.1688A>G (p.Asp563Gly)
|
rs577768294
|
0.00005
|
NM_032043.3(BRIP1):c.2863A>C (p.Asn955His)
|
rs587782244
|
0.00005
|
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met)
|
rs587781666
|
0.00005
|
NM_032119.4(ADGRV1):c.4703G>A (p.Ser1568Asn)
|
rs758104018
|
0.00005
|
NM_033337.3(CAV3):c.451G>A (p.Val151Ile)
|
rs780870487
|
0.00005
|
NM_033380.3(COL4A5):c.4550G>A (p.Arg1517His)
|
rs104886285
|
0.00005
|
NM_057176.3(BSND):c.673C>T (p.Gln225Ter)
|
rs776107884
|
0.00005
|
NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp)
|
rs148356158
|
0.00005
|
NM_139076.3(ABRAXAS1):c.853C>T (p.Arg285Trp)
|
rs150371881
|
0.00005
|
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)
|
rs767068756
|
0.00005
|
NM_152618.3(BBS12):c.1198G>A (p.Val400Met)
|
rs771136797
|
0.00005
|
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)
|
rs201296399
|
0.00005
|
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp)
|
rs781180515
|
0.00005
|
NM_173076.3(ABCA12):c.4969G>A (p.Val1657Met)
|
rs201708455
|
0.00005
|
NM_174936.4(PCSK9):c.1630G>A (p.Ala544Thr)
|
rs1026987232
|
0.00005
|
NM_182961.4(SYNE1):c.6231-12T>C
|
rs370687503
|
0.00005
|
NM_194248.3(OTOF):c.1871G>A (p.Arg624Gln)
|
rs775956205
|
0.00005
|
NM_198129.4(LAMA3):c.8162T>C (p.Ile2721Thr)
|
rs144798744
|
0.00005
|
NM_203447.4(DOCK8):c.2205+6G>C
|
rs1386347360
|
0.00005
|
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val)
|
rs753594462
|
0.00005
|
NM_206933.4(USH2A):c.2792G>A (p.Cys931Tyr)
|
rs145383772
|
0.00005
|
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp)
|
rs201281141
|
0.00005
|
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)
|
rs533700989
|
0.00005
|
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala)
|
rs373057729
|
0.00004
|
NM_000016.6(ACADM):c.388-5G>A
|
rs759254037
|
0.00004
|
NM_000036.3(AMPD1):c.1974+1G>A
|
rs145328844
|
0.00004
|
NM_000038.6(APC):c.2297C>T (p.Ala766Val)
|
rs200339830
|
0.00004
|
NM_000038.6(APC):c.2627G>A (p.Arg876Gln)
|
rs373428732
|
0.00004
|
NM_000038.6(APC):c.317G>A (p.Arg106His)
|
rs201764637
|
0.00004
|
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser)
|
rs730881244
|
0.00004
|
NM_000038.6(APC):c.3368A>C (p.Gln1123Pro)
|
rs587779789
|
0.00004
|
NM_000038.6(APC):c.3436C>T (p.Arg1146Cys)
|
rs202168805
|
0.00004
|
NM_000038.6(APC):c.4073C>T (p.Ala1358Val)
|
rs730881249
|
0.00004
|
NM_000038.6(APC):c.4395T>A (p.Ser1465Arg)
|
rs779898882
|
0.00004
|
NM_000038.6(APC):c.449A>G (p.Lys150Arg)
|
rs371085910
|
0.00004
|
NM_000038.6(APC):c.4714A>T (p.Ile1572Phe)
|
rs750107668
|
0.00004
|
NM_000038.6(APC):c.4901C>T (p.Pro1634Leu)
|
rs370433763
|
0.00004
|
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)
|
rs368080169
|
0.00004
|
NM_000038.6(APC):c.5540C>T (p.Thr1847Met)
|
rs371686531
|
0.00004
|
NM_000038.6(APC):c.5839A>G (p.Thr1947Ala)
|
rs746346292
|
0.00004
|
NM_000038.6(APC):c.6019T>C (p.Tyr2007His)
|
rs745811356
|
0.00004
|
NM_000038.6(APC):c.6020A>G (p.Tyr2007Cys)
|
rs752604668
|
0.00004
|
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe)
|
rs372418435
|
0.00004
|
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)
|
rs35540155
|
0.00004
|
NM_000038.6(APC):c.669A>C (p.Gln223His)
|
rs769482880
|
0.00004
|
NM_000038.6(APC):c.6977G>A (p.Arg2326Gln)
|
rs531178000
|
0.00004
|
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro)
|
rs375586273
|
0.00004
|
NM_000038.6(APC):c.7540A>G (p.Thr2514Ala)
|
rs545125246
|
0.00004
|
NM_000038.6(APC):c.7570A>G (p.Lys2524Glu)
|
rs143060722
|
0.00004
|
NM_000038.6(APC):c.883A>G (p.Ser295Gly)
|
rs587780611
|
0.00004
|
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile)
|
rs147122522
|
0.00004
|
NM_000051.4(ATM):c.2836A>G (p.Met946Val)
|
rs587781992
|
0.00004
|
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)
|
rs587781545
|
0.00004
|
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)
|
rs370282831
|
0.00004
|
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met)
|
rs759951393
|
0.00004
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met)
|
rs587781712
|
0.00004
|
NM_000051.4(ATM):c.5278A>G (p.Met1760Val)
|
rs151327241
|
0.00004
|
NM_000051.4(ATM):c.6179G>C (p.Arg2060Pro)
|
rs376521407
|
0.00004
|
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)
|
rs730881325
|
0.00004
|
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)
|
rs141534716
|
0.00004
|
NM_000051.4(ATM):c.9149C>T (p.Pro3050Leu)
|
rs778267979
|
0.00004
|
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)
|
rs778775834
|
0.00004
|
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser)
|
rs760713333
|
0.00004
|
NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp)
|
rs182659444
|
0.00004
|
NM_000053.4(ATP7B):c.3623C>T (p.Thr1208Met)
|
rs370713752
|
0.00004
|
NM_000053.4(ATP7B):c.4070C>T (p.Ala1357Val)
|
rs769949264
|
0.00004
|
NM_000055.4(BCHE):c.1544G>C (p.Ser515Thr)
|
rs371869257
|
0.00004
|
NM_000055.4(BCHE):c.1574A>T (p.Glu525Val)
|
rs121918556
|
0.00004
|
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)
|
rs55880859
|
0.00004
|
NM_000057.4(BLM):c.2696G>A (p.Arg899Gln)
|
rs748054605
|
0.00004
|
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala)
|
rs56016241
|
0.00004
|
NM_000059.4(BRCA2):c.136C>T (p.Pro46Ser)
|
rs80358425
|
0.00004
|
NM_000059.4(BRCA2):c.3167A>G (p.Gln1056Arg)
|
rs431825301
|
0.00004
|
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys)
|
rs375125172
|
0.00004
|
NM_000059.4(BRCA2):c.3749A>G (p.Glu1250Gly)
|
rs56400215
|
0.00004
|
NM_000059.4(BRCA2):c.3900_3902del (p.Met1300_Thr1301delinsIle)
|
rs397507697
|
0.00004
|
NM_000059.4(BRCA2):c.4412G>T (p.Arg1471Ile)
|
rs786203839
|
0.00004
|
NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys)
|
rs376338226
|
0.00004
|
NM_000059.4(BRCA2):c.5626G>A (p.Glu1876Lys)
|
rs397507793
|
0.00004
|
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val)
|
rs80358817
|
0.00004
|
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys)
|
rs80358842
|
0.00004
|
NM_000059.4(BRCA2):c.6196G>A (p.Val2066Ile)
|
rs397507365
|
0.00004
|
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met)
|
rs80358866
|
0.00004
|
NM_000059.4(BRCA2):c.6295A>G (p.Arg2099Gly)
|
rs398122551
|
0.00004
|
NM_000059.4(BRCA2):c.631+18G>A
|
rs759965817
|
0.00004
|
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)
|
rs80358927
|
0.00004
|
NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly)
|
rs756105620
|
0.00004
|
NM_000059.4(BRCA2):c.9247A>G (p.Lys3083Glu)
|
rs80359190
|
0.00004
|
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys)
|
rs80359237
|
0.00004
|
NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met)
|
rs202131129
|
0.00004
|
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)
|
rs749863676
|
0.00004
|
NM_000070.3(CAPN3):c.1678A>G (p.Thr560Ala)
|
rs146845466
|
0.00004
|
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)
|
rs190793093
|
0.00004
|
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu)
|
rs755106884
|
0.00004
|
NM_000075.4(CDK4):c.898G>A (p.Gly300Ser)
|
rs879254241
|
0.00004
|
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg)
|
rs747895358
|
0.00004
|
NM_000090.4(COL3A1):c.2489C>T (p.Pro830Leu)
|
rs886038849
|
0.00004
|
NM_000090.4(COL3A1):c.3433A>G (p.Ser1145Gly)
|
rs147706051
|
0.00004
|
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr)
|
rs550665335
|
0.00004
|
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)
|
rs184730597
|
0.00004
|
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val)
|
rs369000939
|
0.00004
|
NM_000096.4(CP):c.623A>G (p.Glu208Gly)
|
rs200933607
|
0.00004
|
NM_000098.3(CPT2):c.1189G>A (p.Val397Ile)
|
rs201745292
|
0.00004
|
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)
|
rs373638740
|
0.00004
|
NM_000104.4(CYP1B1):c.128G>C (p.Arg43Pro)
|
rs1344079298
|
0.00004
|
NM_000104.4(CYP1B1):c.431A>G (p.Gln144Arg)
|
rs753847648
|
0.00004
|
NM_000110.4(DPYD):c.321+15A>C
|
rs370363977
|
0.00004
|
NM_000112.4(SLC26A2):c.797C>T (p.Thr266Ile)
|
rs199789515
|
0.00004
|
NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr)
|
rs121434576
|
0.00004
|
NM_000124.4(ERCC6):c.3083A>T (p.Asp1028Val)
|
rs1474441899
|
0.00004
|
NM_000129.4(F13A1):c.1504G>A (p.Gly502Arg)
|
rs121913068
|
0.00004
|
NM_000132.4(F8):c.5009C>T (p.Thr1670Ile)
|
rs200396298
|
0.00004
|
NM_000136.3(FANCC):c.1604G>A (p.Arg535His)
|
rs587779902
|
0.00004
|
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile)
|
rs778966663
|
0.00004
|
NM_000138.5(FBN1):c.1880G>A (p.Arg627His)
|
rs746073643
|
0.00004
|
NM_000138.5(FBN1):c.1951G>A (p.Val651Met)
|
rs1335043561
|
0.00004
|
NM_000138.5(FBN1):c.2419+13T>A
|
rs372885314
|
0.00004
|
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser)
|
rs778181932
|
0.00004
|
NM_000138.5(FBN1):c.3462C>T (p.Ile1154=)
|
rs144339604
|
0.00004
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)
|
rs530059069
|
0.00004
|
NM_000138.5(FBN1):c.7700-13G>C
|
rs775509707
|
0.00004
|
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser)
|
rs758748297
|
0.00004
|
NM_000142.5(FGFR3):c.2028C>T (p.Asp676=)
|
rs754598297
|
0.00004
|
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)
|
rs543360994
|
0.00004
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
NM_000153.4(GALC):c.1709C>A (p.Thr570Asn)
|
rs540808138
|
0.00004
|
NM_000153.4(GALC):c.2041G>A (p.Val681Met)
|
rs200607029
|
0.00004
|
NM_000153.4(GALC):c.226G>A (p.Glu76Lys)
|
rs778447883
|
0.00004
|
NM_000153.4(GALC):c.500A>G (p.Asn167Ser)
|
rs768993170
|
0.00004
|
NM_000155.4(GALT):c.197C>T (p.Pro66Leu)
|
rs111033656
|
0.00004
|
NM_000155.4(GALT):c.44C>T (p.Ser15Leu)
|
rs759270191
|
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_000173.7(GP1BA):c.380G>A (p.Arg127Gln)
|
rs749454966
|
0.00004
|
NM_000178.4(GSS):c.472C>T (p.Arg158Trp)
|
rs761900749
|
0.00004
|
NM_000179.3(MSH6):c.1144C>T (p.His382Tyr)
|
rs587779207
|
0.00004
|
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)
|
rs200938360
|
0.00004
|
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)
|
rs369456858
|
0.00004
|
NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg)
|
rs201096652
|
0.00004
|
NM_000179.3(MSH6):c.3257C>T (p.Pro1086Leu)
|
rs780345806
|
0.00004
|
NM_000179.3(MSH6):c.749T>C (p.Val250Ala)
|
rs587781275
|
0.00004
|
NM_000179.3(MSH6):c.972A>C (p.Lys324Asn)
|
rs876658610
|
0.00004
|
NM_000181.4(GUSB):c.1244C>T (p.Pro415Leu)
|
rs751025746
|
0.00004
|
NM_000190.4(HMBS):c.655G>T (p.Ala219Ser)
|
rs767103817
|
0.00004
|
NM_000190.4(HMBS):c.65G>A (p.Arg22His)
|
rs760087108
|
0.00004
|
NM_000195.5(HPS1):c.389T>C (p.Ile130Thr)
|
rs367640909
|
0.00004
|
NM_000218.3(KCNQ1):c.1945G>A (p.Asp649Asn)
|
rs781333509
|
0.00004
|
NM_000218.3(KCNQ1):c.889G>A (p.Gly297Ser)
|
rs34320941
|
0.00004
|
NM_000237.3(LPL):c.373G>A (p.Ala125Thr)
|
rs199675233
|
0.00004
|
NM_000238.4(KCNH2):c.823A>C (p.Ser275Arg)
|
rs1268162009
|
0.00004
|
NM_000239.3(LYZ):c.156G>A (p.Trp52Ter)
|
rs764263034
|
0.00004
|
NM_000239.3(LYZ):c.175C>T (p.Arg59Ter)
|
rs374990260
|
0.00004
|
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)
|
rs144270019
|
0.00004
|
NM_000243.3(MEFV):c.1587+7G>A
|
rs375555497
|
0.00004
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
NM_000243.3(MEFV):c.611G>A (p.Arg204His)
|
rs775663363
|
0.00004
|
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr)
|
rs141344760
|
0.00004
|
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr)
|
rs63751145
|
0.00004
|
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)
|
rs63751630
|
0.00004
|
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)
|
rs267607840
|
0.00004
|
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys)
|
rs63750465
|
0.00004
|
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)
|
rs367654552
|
0.00004
|
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)
|
rs371302926
|
0.00004
|
NM_000249.4(MLH1):c.945C>G (p.His315Gln)
|
rs587779959
|
0.00004
|
NM_000249.4(MLH1):c.9C>G (p.Phe3Leu)
|
rs779759678
|
0.00004
|
NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu)
|
rs63750611
|
0.00004
|
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys)
|
rs63750029
|
0.00004
|
NM_000251.3(MSH2):c.1601G>A (p.Arg534His)
|
rs587778523
|
0.00004
|
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe)
|
rs730881777
|
0.00004
|
NM_000251.3(MSH2):c.860G>C (p.Gly287Ala)
|
rs587782567
|
0.00004
|
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)
|
rs773819168
|
0.00004
|
NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys)
|
rs397516033
|
0.00004
|
NM_000257.4(MYH7):c.211G>A (p.Val71Met)
|
rs730880830
|
0.00004
|
NM_000257.4(MYH7):c.2585C>T (p.Ala862Val)
|
rs149576470
|
0.00004
|
NM_000257.4(MYH7):c.5790+14T>A
|
rs370553746
|
0.00004
|
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys)
|
rs143852164
|
0.00004
|
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu)
|
rs368687817
|
0.00004
|
NM_000264.5(PTCH1):c.1388C>G (p.Ser463Cys)
|
rs764195249
|
0.00004
|
NM_000264.5(PTCH1):c.1894G>A (p.Asp632Asn)
|
rs559293815
|
0.00004
|
NM_000264.5(PTCH1):c.3005C>T (p.Thr1002Met)
|
rs769924767
|
0.00004
|
NM_000264.5(PTCH1):c.71C>T (p.Pro24Leu)
|
rs767973616
|
0.00004
|
NM_000271.5(NPC1):c.2911+4C>T
|
rs186588103
|
0.00004
|
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys)
|
rs145297180
|
0.00004
|
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val)
|
rs113371321
|
0.00004
|
NM_000275.3(OCA2):c.530_532del (p.Trp177del)
|
rs763726841
|
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.2084C>T (p.Ser695Phe)
|
rs767559014
|
0.00004
|
NM_000293.3(PHKB):c.754T>C (p.Phe252Leu)
|
rs373920188
|
0.00004
|
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)
|
rs756046682
|
0.00004
|
NM_000314.6(PTEN):c.-856C>G
|
rs587779996
|
0.00004
|
NM_000330.4(RS1):c.522+5G>A
|
rs200074383
|
0.00004
|
NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg)
|
rs886053249
|
0.00004
|
NM_000335.5(SCN5A):c.2002G>A (p.Val668Ile)
|
rs768055977
|
0.00004
|
NM_000335.5(SCN5A):c.2597C>T (p.Ser866Leu)
|
rs755194086
|
0.00004
|
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg)
|
rs199473260
|
0.00004
|
NM_000335.5(SCN5A):c.4807G>A (p.Val1603Met)
|
rs199473280
|
0.00004
|
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln)
|
rs199473069
|
0.00004
|
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter)
|
rs794728940
|
0.00004
|
NM_000336.3(SCNN1B):c.1904G>A (p.Ser635Asn)
|
rs13306629
|
0.00004
|
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)
|
rs759961510
|
0.00004
|
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His)
|
rs372153432
|
0.00004
|
NM_000363.5(TNNI3):c.372+7C>T
|
rs367809676
|
0.00004
|
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe)
|
rs1461609607
|
0.00004
|
NM_000369.5(TSHR):c.2120G>A (p.Arg707Gln)
|
rs368452281
|
0.00004
|
NM_000370.3(TTPA):c.95G>A (p.Arg32Gln)
|
rs780199989
|
0.00004
|
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln)
|
rs757953998
|
0.00004
|
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp)
|
rs753641926
|
0.00004
|
NM_000400.4(ERCC2):c.442C>T (p.His148Tyr)
|
rs201382232
|
0.00004
|
NM_000410.4(HFE):c.175G>A (p.Val59Met)
|
rs111033557
|
0.00004
|
NM_000416.3(IFNGR1):c.547A>G (p.Ile183Val)
|
rs752756474
|
0.00004
|
NM_000432.4(MYL2):c.459G>C (p.Lys153Asn)
|
rs149078011
|
0.00004
|
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)
|
rs397516431
|
0.00004
|
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu)
|
rs143456575
|
0.00004
|
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp)
|
rs202164519
|
0.00004
|
NM_000455.5(STK11):c.298C>G (p.Gln100Glu)
|
rs757841535
|
0.00004
|
NM_000455.5(STK11):c.316C>T (p.Arg106Trp)
|
rs587782115
|
0.00004
|
NM_000455.5(STK11):c.631C>T (p.Arg211Trp)
|
rs185087320
|
0.00004
|
NM_000455.5(STK11):c.827G>T (p.Gly276Val)
|
rs749927908
|
0.00004
|
NM_000465.4(BARD1):c.1294C>T (p.Leu432Phe)
|
rs185164724
|
0.00004
|
NM_000465.4(BARD1):c.1877A>G (p.Asn626Ser)
|
rs587781443
|
0.00004
|
NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr)
|
rs587780030
|
0.00004
|
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)
|
rs142864491
|
0.00004
|
NM_000465.4(BARD1):c.365-7C>T
|
rs745929983
|
0.00004
|
NM_000465.4(BARD1):c.581G>A (p.Arg194Lys)
|
rs181748854
|
0.00004
|
NM_000465.4(BARD1):c.644A>G (p.Asn215Ser)
|
rs774929973
|
0.00004
|
NM_000465.4(BARD1):c.76A>G (p.Met26Val)
|
rs587781570
|
0.00004
|
NM_000465.4(BARD1):c.97G>C (p.Ala33Pro)
|
rs587782465
|
0.00004
|
NM_000478.6(ALPL):c.1541C>T (p.Ala514Val)
|
rs371373128
|
0.00004
|
NM_000481.4(AMT):c.752C>G (p.Pro251Arg)
|
rs770999859
|
0.00004
|
NM_000492.4(CFTR):c.1210G>C (p.Gly404Arg)
|
rs200899224
|
0.00004
|
NM_000492.4(CFTR):c.1680-6T>G
|
rs949851823
|
0.00004
|
NM_000492.4(CFTR):c.1718C>T (p.Ser573Phe)
|
rs772223589
|
0.00004
|
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)
|
rs397508293
|
0.00004
|
NM_000492.4(CFTR):c.2375G>A (p.Arg792Gln)
|
rs369040061
|
0.00004
|
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile)
|
rs397508397
|
0.00004
|
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln)
|
rs769448889
|
0.00004
|
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala)
|
rs397508511
|
0.00004
|
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu)
|
rs397508542
|
0.00004
|
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe)
|
rs139729994
|
0.00004
|
NM_000492.4(CFTR):c.355A>G (p.Ile119Val)
|
rs193922518
|
0.00004
|
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)
|
rs201958172
|
0.00004
|
NM_000492.4(CFTR):c.4096A>T (p.Ile1366Phe)
|
rs770345073
|
0.00004
|
NM_000492.4(CFTR):c.454A>T (p.Met152Leu)
|
rs397508721
|
0.00004
|
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala)
|
rs200885306
|
0.00004
|
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu)
|
rs775701644
|
0.00004
|
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)
|
rs397508818
|
0.00004
|
NM_000498.3(CYP11B2):c.59G>A (p.Arg20Lys)
|
rs1463986346
|
0.00004
|
NM_000518.5(HBB):c.316-81T>A
|
rs911937119
|
0.00004
|
NM_000520.5(HEXA):c.-2343_-2342delAA
|
rs561605340
|
0.00004
|
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser)
|
rs121907982
|
0.00004
|
NM_000527.5(LDLR):c.1078G>C (p.Asp360His)
|
rs777926251
|
0.00004
|
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg)
|
rs72658858
|
0.00004
|
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg)
|
rs536111818
|
0.00004
|
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala)
|
rs587781382
|
0.00004
|
NM_000535.7(PMS2):c.13G>C (p.Glu5Gln)
|
rs372539944
|
0.00004
|
NM_000535.7(PMS2):c.1501G>A (p.Val501Met)
|
rs540287433
|
0.00004
|
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln)
|
rs587780044
|
0.00004
|
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)
|
rs553286217
|
0.00004
|
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln)
|
rs63751284
|
0.00004
|
NM_000535.7(PMS2):c.422G>C (p.Gly141Ala)
|
rs376931673
|
0.00004
|
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser)
|
rs777903002
|
0.00004
|
NM_000535.7(PMS2):c.961G>A (p.Val321Ile)
|
rs377043696
|
0.00004
|
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=)
|
rs770132934
|
0.00004
|
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn)
|
rs749780769
|
0.00004
|
NM_000546.6(TP53):c.28G>A (p.Val10Ile)
|
rs535274413
|
0.00004
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val)
|
rs753907159
|
0.00004
|
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser)
|
rs761181064
|
0.00004
|
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp)
|
rs192567788
|
0.00004
|
NM_000548.5(TSC2):c.921C>G (p.His307Gln)
|
rs878854121
|
0.00004
|
NM_000550.3(TYRP1):c.1538C>G (p.Pro513Arg)
|
rs532941663
|
0.00004
|
NM_000551.4(VHL):c.631A>C (p.Met211Leu)
|
rs200019083
|
0.00004
|
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser)
|
rs61750070
|
0.00004
|
NM_000552.5(VWF):c.7493C>A (p.Ala2498Asp)
|
rs369669154
|
0.00004
|
NM_000552.5(VWF):c.8164C>G (p.Pro2722Ala)
|
rs62641244
|
0.00004
|
NM_000742.4(CHRNA2):c.1117T>C (p.Cys373Arg)
|
rs137965290
|
0.00004
|
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser)
|
rs778458082
|
0.00004
|
NM_000875.5(IGF1R):c.721G>A (p.Ala241Thr)
|
rs775630539
|
0.00004
|
NM_001002294.3(FMO3):c.613C>T (p.Arg205Cys)
|
rs28363549
|
0.00004
|
NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp)
|
rs377381866
|
0.00004
|
NM_001005242.3(PKP2):c.1379-2102C>G
|
rs762631031
|
0.00004
|
NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr)
|
rs558637427
|
0.00004
|
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn)
|
rs373222905
|
0.00004
|
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)
|
rs543320028
|
0.00004
|
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu)
|
rs138096771
|
0.00004
|
NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr)
|
rs767659342
|
0.00004
|
NM_001035.3(RYR2):c.1005+7C>T
|
rs774100182
|
0.00004
|
NM_001035.3(RYR2):c.11557+15G>A
|
rs761490797
|
0.00004
|
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)
|
rs750117613
|
0.00004
|
NM_001035.3(RYR2):c.13913+17A>G
|
rs371894104
|
0.00004
|
NM_001035.3(RYR2):c.2718+19T>C
|
rs773320230
|
0.00004
|
NM_001035.3(RYR2):c.3896T>C (p.Ile1299Thr)
|
rs772551383
|
0.00004
|
NM_001035.3(RYR2):c.3971G>C (p.Gly1324Ala)
|
rs773678614
|
0.00004
|
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)
|
rs770863319
|
0.00004
|
NM_001036.6(RYR3):c.12978+3A>G
|
rs775487863
|
0.00004
|
NM_001036.6(RYR3):c.9142C>T (p.Arg3048Cys)
|
rs763223227
|
0.00004
|
NM_001039770.3(TMPPE):c.-398A>G
|
rs369627064
|
0.00004
|
NM_001040142.2(SCN2A):c.5672T>A (p.Val1891Asp)
|
rs758908934
|
0.00004
|
NM_001042492.3(NF1):c.181A>G (p.Ile61Val)
|
rs754295034
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001042492.3(NF1):c.61-9T>C
|
rs780956522
|
0.00004
|
NM_001042492.3(NF1):c.6428-3C>T
|
rs374014162
|
0.00004
|
NM_001042492.3(NF1):c.7528A>G (p.Thr2510Ala)
|
rs145794301
|
0.00004
|
NM_001044385.3(TMEM237):c.574C>T (p.Arg192Cys)
|
rs202092408
|
0.00004
|
NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala)
|
rs375597447
|
0.00004
|
NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys)
|
rs200229669
|
0.00004
|
NM_001048174.2(MUTYH):c.305-6C>T
|
rs376600220
|
0.00004
|
NM_001048174.2(MUTYH):c.523C>T (p.Arg175Cys)
|
rs587780748
|
0.00004
|
NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile)
|
rs759295912
|
0.00004
|
NM_001048174.2(MUTYH):c.797G>A (p.Arg266His)
|
rs146044717
|
0.00004
|
NM_001077365.2(POMT1):c.699+85C>G
|
rs369000699
|
0.00004
|
NM_001083116.3(PRF1):c.614A>G (p.Asn205Ser)
|
rs770354747
|
0.00004
|
NM_001083116.3(PRF1):c.719G>A (p.Arg240His)
|
rs751390468
|
0.00004
|
NM_001103.4(ACTN2):c.1862G>A (p.Arg621His)
|
rs368040932
|
0.00004
|
NM_001110556.2(FLNA):c.6175G>A (p.Glu2059Lys)
|
rs782779958
|
0.00004
|
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu)
|
rs149907021
|
0.00004
|
NM_001126049.2(KLLN):c.-1039G>A
|
rs587779999
|
0.00004
|
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln)
|
rs561858384
|
0.00004
|
NM_001128159.3(VPS53):c.418C>T (p.Arg140Cys)
|
rs762571777
|
0.00004
|
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
|
rs200763627
|
0.00004
|
NM_001128918.3(MARK3):c.1917-11A>G
|
rs557344866
|
0.00004
|
NM_001130823.3(DNMT1):c.2471C>T (p.Thr824Met)
|
rs140993011
|
0.00004
|
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys)
|
rs752946123
|
0.00004
|
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu)
|
rs191342808
|
0.00004
|
NM_001134363.3(RBM20):c.533G>A (p.Arg178Gln)
|
rs561085365
|
0.00004
|
NM_001134407.3(GRIN2A):c.989C>T (p.Pro330Leu)
|
rs367543120
|
0.00004
|
NM_001134771.2(SLC12A5):c.74G>A (p.Arg25Gln)
|
rs555710024
|
0.00004
|
NM_001142800.2(EYS):c.3164+7A>T
|
rs963551759
|
0.00004
|
NM_001142800.2(EYS):c.3226T>C (p.Cys1076Arg)
|
rs780935714
|
0.00004
|
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu)
|
rs1161453292
|
0.00004
|
NM_001142800.2(EYS):c.9235C>G (p.Leu3079Val)
|
rs760931603
|
0.00004
|
NM_001148.6(ANK2):c.6973G>C (p.Asp2325His)
|
rs1298469624
|
0.00004
|
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)
|
rs533233215
|
0.00004
|
NM_001164508.2(NEB):c.21417+3A>G
|
rs148950085
|
0.00004
|
NM_001164508.2(NEB):c.23710C>T (p.Arg7904Cys)
|
rs758166991
|
0.00004
|
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg)
|
rs760903716
|
0.00004
|
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His)
|
rs752216307
|
0.00004
|
NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys)
|
rs369647740
|
0.00004
|
NM_001243133.2(NLRP3):c.2151-9A>C
|
rs762817427
|
0.00004
|
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)
|
rs147538370
|
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_001267550.2(TTN):c.102272G>A (p.Arg34091Gln)
|
rs763708375
|
0.00004
|
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His)
|
rs757918924
|
0.00004
|
NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr)
|
rs751914956
|
0.00004
|
NM_001267550.2(TTN):c.11066T>C (p.Ile3689Thr)
|
rs527924868
|
0.00004
|
NM_001267550.2(TTN):c.197C>T (p.Thr66Met)
|
rs372755739
|
0.00004
|
NM_001267550.2(TTN):c.22303C>T (p.Pro7435Ser)
|
rs375037712
|
0.00004
|
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)
|
rs183482849
|
0.00004
|
NM_001267550.2(TTN):c.24196G>A (p.Asp8066Asn)
|
rs755202091
|
0.00004
|
NM_001267550.2(TTN):c.24571G>A (p.Glu8191Lys)
|
rs201326258
|
0.00004
|
NM_001267550.2(TTN):c.26564G>T (p.Gly8855Val)
|
rs767057972
|
0.00004
|
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln)
|
rs570608843
|
0.00004
|
NM_001267550.2(TTN):c.2840C>T (p.Ser947Leu)
|
rs761200839
|
0.00004
|
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)
|
rs375266859
|
0.00004
|
NM_001267550.2(TTN):c.30826T>G (p.Ser10276Ala)
|
rs778063825
|
0.00004
|
NM_001267550.2(TTN):c.30857T>C (p.Ile10286Thr)
|
rs369094355
|
0.00004
|
NM_001267550.2(TTN):c.30941T>C (p.Ile10314Thr)
|
rs886055288
|
0.00004
|
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys)
|
rs772195716
|
0.00004
|
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter)
|
rs1384922524
|
0.00004
|
NM_001267550.2(TTN):c.39535C>T (p.Pro13179Ser)
|
rs752224211
|
0.00004
|
NM_001267550.2(TTN):c.39887C>G (p.Pro13296Arg)
|
rs760464072
|
0.00004
|
NM_001267550.2(TTN):c.40409-1G>A
|
rs1285884266
|
0.00004
|
NM_001267550.2(TTN):c.40558+1G>A
|
rs368219776
|
0.00004
|
NM_001267550.2(TTN):c.43748-9T>G
|
rs1048557788
|
0.00004
|
NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn)
|
rs370904881
|
0.00004
|
NM_001267550.2(TTN):c.47278G>A (p.Gly15760Ser)
|
rs372404266
|
0.00004
|
NM_001267550.2(TTN):c.49049-16G>A
|
rs369011743
|
0.00004
|
NM_001267550.2(TTN):c.52434T>G (p.Ile17478Met)
|
rs554368924
|
0.00004
|
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met)
|
rs370629962
|
0.00004
|
NM_001267550.2(TTN):c.61588C>A (p.Pro20530Thr)
|
rs755700079
|
0.00004
|
NM_001267550.2(TTN):c.6367C>T (p.Arg2123Trp)
|
rs777316854
|
0.00004
|
NM_001267550.2(TTN):c.71341G>A (p.Val23781Ile)
|
rs146483596
|
0.00004
|
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser)
|
rs757343393
|
0.00004
|
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His)
|
rs397517725
|
0.00004
|
NM_001267550.2(TTN):c.78039A>C (p.Glu26013Asp)
|
rs755117644
|
0.00004
|
NM_001267550.2(TTN):c.78383G>A (p.Arg26128His)
|
rs757957389
|
0.00004
|
NM_001267550.2(TTN):c.83821G>A (p.Glu27941Lys)
|
rs545954394
|
0.00004
|
NM_001267550.2(TTN):c.90748G>A (p.Glu30250Lys)
|
rs200651247
|
0.00004
|
NM_001267550.2(TTN):c.94604G>T (p.Gly31535Val)
|
rs200302364
|
0.00004
|
NM_001267550.2(TTN):c.95395A>G (p.Ile31799Val)
|
rs370916420
|
0.00004
|
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)
|
rs367979582
|
0.00004
|
NM_001291303.3(FAT4):c.14311C>T (p.Arg4771Cys)
|
rs144845192
|
0.00004
|
NM_001318510.2(ACSL4):c.1490C>T (p.Ala497Val)
|
rs956339615
|
0.00004
|
NM_001318510.2(ACSL4):c.517-6C>T
|
rs1218350261
|
0.00004
|
NM_001330.5(CTF1):c.454G>C (p.Ala152Pro)
|
rs1467275471
|
0.00004
|
NM_001349253.2(SCN11A):c.1054A>G (p.Met352Val)
|
rs757066072
|
0.00004
|
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)
|
rs149399432
|
0.00004
|
NM_001352754.2(ARMC9):c.1340C>T (p.Pro447Leu)
|
rs778877264
|
0.00004
|
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro)
|
rs104893747
|
0.00004
|
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)
|
rs547012639
|
0.00004
|
NM_001365308.1(BMPER):c.932G>C (p.Gly311Ala)
|
rs779852774
|
0.00004
|
NM_001365951.3(KIF1B):c.3259+3A>C
|
rs1388178227
|
0.00004
|
NM_001367624.2(ZNF469):c.2063C>A (p.Thr688Asn)
|
rs281865146
|
0.00004
|
NM_001367624.2(ZNF469):c.290C>T (p.Pro97Leu)
|
rs273585617
|
0.00004
|
NM_001367624.2(ZNF469):c.4276G>A (p.Glu1426Lys)
|
rs868174994
|
0.00004
|
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe)
|
rs773758818
|
0.00004
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
NM_001374385.1(ATP8B1):c.212G>A (p.Arg71His)
|
rs148715351
|
0.00004
|
NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His)
|
rs759549373
|
0.00004
|
NM_001377.3(DYNC2H1):c.740G>A (p.Arg247Gln)
|
rs761391585
|
0.00004
|
NM_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu)
|
rs199683521
|
0.00004
|
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser)
|
rs541576664
|
0.00004
|
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile)
|
rs201990757
|
0.00004
|
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn)
|
rs200454461
|
0.00004
|
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe)
|
rs375842278
|
0.00004
|
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly)
|
rs549778430
|
0.00004
|
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln)
|
rs778162209
|
0.00004
|
NM_001378454.1(ALMS1):c.9782-19C>A
|
rs777706370
|
0.00004
|
NM_001378457.1(DMXL2):c.1682A>G (p.Asn561Ser)
|
rs750656460
|
0.00004
|
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His)
|
rs369442293
|
0.00004
|
NM_001384140.1(PCDH15):c.944C>T (p.Pro315Leu)
|
rs138299477
|
0.00004
|
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys)
|
rs561122654
|
0.00004
|
NM_001384732.1(CPLANE1):c.2645A>G (p.Tyr882Cys)
|
rs1012462823
|
0.00004
|
NM_001384732.1(CPLANE1):c.8410C>T (p.Pro2804Ser)
|
rs377107065
|
0.00004
|
NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val)
|
rs761156912
|
0.00004
|
NM_001386795.1(DTNA):c.1841C>T (p.Thr614Met)
|
rs757959636
|
0.00004
|
NM_001386795.1(DTNA):c.904G>A (p.Ala302Thr)
|
rs199983981
|
0.00004
|
NM_001492.6(GDF1):c.796G>A (p.Ala266Thr)
|
rs755707666
|
0.00004
|
NM_001677.4(ATP1B1):c.790A>G (p.Thr264Ala)
|
rs760933888
|
0.00004
|
NM_001846.4(COL4A2):c.1513G>A (p.Ala505Thr)
|
rs753867828
|
0.00004
|
NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn)
|
rs199842980
|
0.00004
|
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu)
|
rs202094480
|
0.00004
|
NM_001908.5(CTSB):c.991C>T (p.Arg331Cys)
|
rs148519031
|
0.00004
|
NM_001909.5(CTSD):c.283G>A (p.Val95Ile)
|
rs141482597
|
0.00004
|
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu)
|
rs587779409
|
0.00004
|
NM_001927.4(DES):c.109C>T (p.Arg37Trp)
|
rs537881554
|
0.00004
|
NM_001931.5(DLAT):c.1541C>T (p.Ala514Val)
|
rs368631614
|
0.00004
|
NM_001931.5(DLAT):c.208C>T (p.Arg70Trp)
|
rs782051284
|
0.00004
|
NM_001943.5(DSG2):c.1878A>G (p.Leu626=)
|
rs771576658
|
0.00004
|
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser)
|
rs200804638
|
0.00004
|
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr)
|
rs752137335
|
0.00004
|
NM_001963.6(EGF):c.1180C>T (p.Arg394Ter)
|
rs369702571
|
0.00004
|
NM_001963.6(EGF):c.1864C>T (p.Arg622Ter)
|
rs759896124
|
0.00004
|
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=)
|
rs532983875
|
0.00004
|
NM_002047.4(GARS1):c.59T>C (p.Leu20Pro)
|
rs756664556
|
0.00004
|
NM_002160.4(TNC):c.3967A>G (p.Thr1323Ala)
|
rs200961533
|
0.00004
|
NM_002225.5(IVD):c.1124G>A (p.Gly375Asp)
|
rs769261274
|
0.00004
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
NM_002230.4(JUP):c.1219G>A (p.Val407Ile)
|
rs370913228
|
0.00004
|
NM_002230.4(JUP):c.607C>T (p.Arg203Cys)
|
rs147354282
|
0.00004
|
NM_002230.4(JUP):c.624C>G (p.Ile208Met)
|
rs566435665
|
0.00004
|
NM_002294.3(LAMP2):c.-7C>T
|
rs762305947
|
0.00004
|
NM_002294.3(LAMP2):c.1093+9C>T
|
rs371259269
|
0.00004
|
NM_002294.3(LAMP2):c.928+6C>T
|
rs769837038
|
0.00004
|
NM_002335.4(LRP5):c.1226C>T (p.Thr409Met)
|
rs199686378
|
0.00004
|
NM_002471.4(MYH6):c.3124C>A (p.Gln1042Lys)
|
rs756244326
|
0.00004
|
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His)
|
rs533942127
|
0.00004
|
NM_002474.3(MYH11):c.1768G>A (p.Ala590Thr)
|
rs745516001
|
0.00004
|
NM_002474.3(MYH11):c.2579A>T (p.Glu860Val)
|
rs373789068
|
0.00004
|
NM_002474.3(MYH11):c.2785G>T (p.Ala929Ser)
|
rs906679954
|
0.00004
|
NM_002474.3(MYH11):c.301G>A (p.Val101Met)
|
rs375159635
|
0.00004
|
NM_002485.5(NBN):c.224G>C (p.Gly75Ala)
|
rs587782179
|
0.00004
|
NM_002485.5(NBN):c.506G>A (p.Arg169His)
|
rs776134250
|
0.00004
|
NM_002485.5(NBN):c.683T>G (p.Ile228Arg)
|
rs777460725
|
0.00004
|
NM_002485.5(NBN):c.73G>A (p.Val25Ile)
|
rs587781748
|
0.00004
|
NM_002485.5(NBN):c.803C>T (p.Thr268Met)
|
rs535602436
|
0.00004
|
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu)
|
rs776848222
|
0.00004
|
NM_002693.3(POLG):c.3649G>C (p.Ala1217Pro)
|
rs569063066
|
0.00004
|
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)
|
rs148786642
|
0.00004
|
NM_002693.3(POLG):c.487C>T (p.Pro163Ser)
|
rs758454871
|
0.00004
|
NM_002693.3(POLG):c.863G>A (p.Arg288His)
|
rs796052902
|
0.00004
|
NM_002769.5(PRSS1):c.247G>C (p.Gly83Arg)
|
rs372411481
|
0.00004
|
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser)
|
rs751437780
|
0.00004
|
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)
|
rs572274623
|
0.00004
|
NM_002878.4(RAD51D):c.101C>T (p.Ala34Val)
|
rs876658968
|
0.00004
|
NM_002878.4(RAD51D):c.185C>T (p.Ser62Leu)
|
rs374357106
|
0.00004
|
NM_002878.4(RAD51D):c.493C>T (p.Arg165Trp)
|
rs544654228
|
0.00004
|
NM_003119.4(SPG7):c.1198C>T (p.Arg400Trp)
|
rs748024868
|
0.00004
|
NM_003172.4(SURF1):c.324-11T>C
|
rs375398247
|
0.00004
|
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn)
|
rs146277116
|
0.00004
|
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)
|
rs371209879
|
0.00004
|
NM_003384.3(VRK1):c.683C>T (p.Thr228Met)
|
rs146113610
|
0.00004
|
NM_003476.5(CSRP3):c.230C>G (p.Ala77Gly)
|
rs772138289
|
0.00004
|
NM_003477.3(PDHX):c.248C>T (p.Ala83Val)
|
rs745866603
|
0.00004
|
NM_003560.4(PLA2G6):c.1375C>T (p.Arg459Trp)
|
rs753484966
|
0.00004
|
NM_003647.3(DGKE):c.117G>C (p.Trp39Cys)
|
rs201377251
|
0.00004
|
NM_003742.4(ABCB11):c.1468A>G (p.Asn490Asp)
|
rs553076953
|
0.00004
|
NM_004004.6(GJB2):c.-30C>T
|
rs397516867
|
0.00004
|
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys)
|
rs397516875
|
0.00004
|
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr)
|
rs765172751
|
0.00004
|
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)
|
rs375599392
|
0.00004
|
NM_004004.6(GJB2):c.88A>G (p.Ile30Val)
|
rs374625633
|
0.00004
|
NM_004006.3(DMD):c.4397A>G (p.Asn1466Ser)
|
rs910214749
|
0.00004
|
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser)
|
rs766746479
|
0.00004
|
NM_004006.3(DMD):c.6049C>A (p.Leu2017Ile)
|
rs201532491
|
0.00004
|
NM_004082.5(DCTN1):c.1324A>G (p.Met442Val)
|
rs763480310
|
0.00004
|
NM_004100.5(EYA4):c.1223G>A (p.Arg408His)
|
rs760787542
|
0.00004
|
NM_004100.5(EYA4):c.529G>A (p.Val177Ile)
|
rs776409783
|
0.00004
|
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)
|
rs139881415
|
0.00004
|
NM_004208.4(AIFM1):c.141A>C (p.Glu47Asp)
|
rs369523358
|
0.00004
|
NM_004281.4(BAG3):c.1291A>G (p.Lys431Glu)
|
rs1374652846
|
0.00004
|
NM_004281.4(BAG3):c.191C>T (p.Ser64Phe)
|
rs780615753
|
0.00004
|
NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val)
|
rs376651641
|
0.00004
|
NM_004329.3(BMPR1A):c.583C>A (p.Gln195Lys)
|
rs771910503
|
0.00004
|
NM_004341.5(CAD):c.5347G>A (p.Val1783Ile)
|
rs775234790
|
0.00004
|
NM_004360.5(CDH1):c.1244T>C (p.Ile415Thr)
|
rs587782372
|
0.00004
|
NM_004360.5(CDH1):c.1501G>A (p.Val501Met)
|
rs368690400
|
0.00004
|
NM_004360.5(CDH1):c.1793G>A (p.Arg598Gln)
|
rs780759537
|
0.00004
|
NM_004360.5(CDH1):c.1865A>G (p.Asn622Ser)
|
rs147925149
|
0.00004
|
NM_004360.5(CDH1):c.1936+8C>T
|
rs776624068
|
0.00004
|
NM_004360.5(CDH1):c.2246G>A (p.Arg749Gln)
|
rs530717933
|
0.00004
|
NM_004360.5(CDH1):c.2336G>A (p.Arg779Gln)
|
rs587781311
|
0.00004
|
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)
|
rs587781312
|
0.00004
|
NM_004370.6(COL12A1):c.2314C>T (p.Pro772Ser)
|
rs370256196
|
0.00004
|
NM_004393.6(DAG1):c.2326C>T (p.Arg776Cys)
|
rs752441031
|
0.00004
|
NM_004415.4(DSP):c.137G>A (p.Gly46Asp)
|
rs140403872
|
0.00004
|
NM_004415.4(DSP):c.5795G>A (p.Arg1932His)
|
rs770522444
|
0.00004
|
NM_004493.3(HSD17B10):c.486+3G>A
|
rs949464841
|
0.00004
|
NM_004523.4(KIF11):c.2836C>T (p.His946Tyr)
|
rs201290831
|
0.00004
|
NM_004614.5(TK2):c.278A>G (p.Asn93Ser)
|
rs142291440
|
0.00004
|
NM_004628.5(XPC):c.2453A>G (p.Lys818Arg)
|
rs367953088
|
0.00004
|
NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys)
|
rs752712664
|
0.00004
|
NM_004937.3(CTNS):c.970+5G>A
|
rs753451110
|
0.00004
|
NM_004958.4(MTOR):c.1870C>T (p.Arg624Cys)
|
rs780398729
|
0.00004
|
NM_005045.4(RELN):c.10102G>A (p.Gly3368Arg)
|
rs753769576
|
0.00004
|
NM_005050.4(ABCD4):c.362G>A (p.Arg121His)
|
rs201744101
|
0.00004
|
NM_005188.4(CBL):c.1648C>T (p.Arg550Trp)
|
rs202065722
|
0.00004
|
NM_005188.4(CBL):c.1942-17T>C
|
rs907111206
|
0.00004
|
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln)
|
rs374672276
|
0.00004
|
NM_005247.4(FGF3):c.280G>A (p.Gly94Arg)
|
rs782507721
|
0.00004
|
NM_005327.7(HADH):c.908G>T (p.Gly303Val)
|
rs575378007
|
0.00004
|
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)
|
rs148784027
|
0.00004
|
NM_005413.4(SIX3):c.164G>A (p.Gly55Glu)
|
rs772677168
|
0.00004
|
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)
|
rs369328625
|
0.00004
|
NM_005585.5(SMAD6):c.776T>C (p.Val259Ala)
|
rs1049275389
|
0.00004
|
NM_005591.4(MRE11):c.1052G>A (p.Arg351His)
|
rs587780133
|
0.00004
|
NM_005633.4(SOS1):c.2587C>A (p.Gln863Lys)
|
rs141501083
|
0.00004
|
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys)
|
rs768113420
|
0.00004
|
NM_005633.4(SOS1):c.3857C>T (p.Ser1286Phe)
|
rs374341202
|
0.00004
|
NM_005732.4(RAD50):c.281T>C (p.Ile94Thr)
|
rs768127412
|
0.00004
|
NM_005732.4(RAD50):c.3420G>A (p.Met1140Ile)
|
rs748377319
|
0.00004
|
NM_005732.4(RAD50):c.625G>C (p.Glu209Gln)
|
rs587780158
|
0.00004
|
NM_005732.4(RAD50):c.695C>A (p.Ala232Asp)
|
rs28903089
|
0.00004
|
NM_005901.6(SMAD2):c.242G>T (p.Cys81Phe)
|
rs908853616
|
0.00004
|
NM_005902.4(SMAD3):c.872-12G>C
|
rs768529580
|
0.00004
|
NM_006019.4(TCIRG1):c.391G>A (p.Val131Met)
|
rs377377656
|
0.00004
|
NM_006312.6(NCOR2):c.6520C>T (p.Arg2174Cys)
|
rs761892157
|
0.00004
|
NM_006383.4(CIB2):c.130A>G (p.Met44Val)
|
rs142260703
|
0.00004
|
NM_006506.5(RASA2):c.656C>T (p.Pro219Leu)
|
rs944578775
|
0.00004
|
NM_006506.5(RASA2):c.71C>T (p.Pro24Leu)
|
rs536687230
|
0.00004
|
NM_006662.3(SRCAP):c.8405C>T (p.Ser2802Phe)
|
rs376510159
|
0.00004
|
NM_006767.4(LZTR1):c.1183G>A (p.Val395Ile)
|
rs373591504
|
0.00004
|
NM_006767.4(LZTR1):c.1433G>A (p.Arg478Gln)
|
rs138036477
|
0.00004
|
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met)
|
rs199586863
|
0.00004
|
NM_006767.4(LZTR1):c.400+10C>T
|
rs375186405
|
0.00004
|
NM_006767.4(LZTR1):c.946G>A (p.Val316Met)
|
rs370315661
|
0.00004
|
NM_006785.4(MALT1):c.92A>G (p.Asn31Ser)
|
rs888829305
|
0.00004
|
NM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg)
|
rs569343105
|
0.00004
|
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu)
|
rs747031778
|
0.00004
|
NM_007074.4(CORO1A):c.1237G>A (p.Gly413Arg)
|
rs751313483
|
0.00004
|
NM_007103.4(NDUFV1):c.248C>T (p.Ser83Leu)
|
rs779150755
|
0.00004
|
NM_007118.4(TRIO):c.1143G>C (p.Gln381His)
|
rs369621289
|
0.00004
|
NM_007194.4(CHEK2):c.*2dup
|
rs749257861
|
0.00004
|
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=)
|
rs201544715
|
0.00004
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)
|
rs141776984
|
0.00004
|
NM_007294.4(BRCA1):c.-16A>G
|
rs777262055
|
0.00004
|
NM_007294.4(BRCA1):c.1016A>C (p.Lys339Thr)
|
rs587781737
|
0.00004
|
NM_007294.4(BRCA1):c.2518A>G (p.Ser840Gly)
|
rs377475866
|
0.00004
|
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys)
|
rs80356955
|
0.00004
|
NM_007294.4(BRCA1):c.2936G>A (p.Arg979His)
|
rs80356985
|
0.00004
|
NM_007294.4(BRCA1):c.3394A>G (p.Asn1132Asp)
|
rs530464947
|
0.00004
|
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)
|
rs397509100
|
0.00004
|
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys)
|
rs41293457
|
0.00004
|
NM_007294.4(BRCA1):c.976G>C (p.Glu326Gln)
|
rs773433679
|
0.00004
|
NM_007373.4(SHOC2):c.1423-15T>C
|
rs775689426
|
0.00004
|
NM_012463.4(ATP6V0A2):c.298C>G (p.Gln100Glu)
|
rs551494374
|
0.00004
|
NM_012463.4(ATP6V0A2):c.410C>T (p.Thr137Ile)
|
rs780788821
|
0.00004
|
NM_013382.7(POMT2):c.1785G>A (p.Pro595=)
|
rs202237807
|
0.00004
|
NM_013975.4(LIG3):c.2796+20C>T
|
rs778468086
|
0.00004
|
NM_014009.4(FOXP3):c.152G>A (p.Arg51Gln)
|
rs1170772176
|
0.00004
|
NM_014009.4(FOXP3):c.323C>T (p.Thr108Met)
|
rs782572328
|
0.00004
|
NM_014049.5(ACAD9):c.1684G>A (p.Asp562Asn)
|
rs547697115
|
0.00004
|
NM_014049.5(ACAD9):c.538C>T (p.Leu180Phe)
|
rs146453758
|
0.00004
|
NM_014141.6(CNTNAP2):c.511C>T (p.Arg171Cys)
|
rs375032955
|
0.00004
|
NM_014704.4(CEP104):c.46G>A (p.Glu16Lys)
|
rs200997681
|
0.00004
|
NM_014704.4(CEP104):c.889C>G (p.Leu297Val)
|
rs367663723
|
0.00004
|
NM_014780.5(CUL7):c.2947C>T (p.Arg983Cys)
|
rs147713438
|
0.00004
|
NM_014780.5(CUL7):c.3893A>G (p.Asn1298Ser)
|
rs765531212
|
0.00004
|
NM_014845.6(FIG4):c.2080A>G (p.Met694Val)
|
rs143531641
|
0.00004
|
NM_015311.3(OBSL1):c.1034G>A (p.Arg345Gln)
|
rs781161790
|
0.00004
|
NM_015404.4(WHRN):c.2540A>G (p.Gln847Arg)
|
rs545326842
|
0.00004
|
NM_015602.4(TOR1AIP1):c.1456G>A (p.Ala486Thr)
|
rs138345857
|
0.00004
|
NM_015627.3(LDLRAP1):c.452G>A (p.Arg151Gln)
|
rs764804901
|
0.00004
|
NM_015631.6(TCTN3):c.1520dup (p.Gly508fs)
|
rs755903123
|
0.00004
|
NM_015909.4(NBAS):c.245G>A (p.Arg82His)
|
rs763005913
|
0.00004
|
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)
|
rs146539065
|
0.00004
|
NM_017547.4(FOXRED1):c.1112C>T (p.Pro371Leu)
|
rs773871022
|
0.00004
|
NM_017547.4(FOXRED1):c.7C>T (p.Arg3Trp)
|
rs756466676
|
0.00004
|
NM_017617.5(NOTCH1):c.1903+10C>G
|
rs375704312
|
0.00004
|
NM_017721.5(CC2D1A):c.542G>A (p.Arg181His)
|
rs542798158
|
0.00004
|
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu)
|
rs113938624
|
0.00004
|
NM_017934.7(PHIP):c.3766C>G (p.Leu1256Val)
|
rs975606164
|
0.00004
|
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser)
|
rs373386030
|
0.00004
|
NM_018136.5(ASPM):c.5302C>T (p.Arg1768Trp)
|
rs770335356
|
0.00004
|
NM_018668.5(VPS33B):c.1170+5G>A
|
rs201431055
|
0.00004
|
NM_018941.4(CLN8):c.545C>T (p.Ala182Val)
|
rs541994118
|
0.00004
|
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser)
|
rs386834136
|
0.00004
|
NM_019066.5(MAGEL2):c.2797G>A (p.Asp933Asn)
|
rs567298347
|
0.00004
|
NM_019109.5(ALG1):c.814C>T (p.Arg272Cys)
|
rs774593969
|
0.00004
|
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu)
|
rs199517715
|
0.00004
|
NM_020320.5(RARS2):c.1718C>T (p.Thr573Ile)
|
rs541516452
|
0.00004
|
NM_020533.3(MCOLN1):c.1134+5G>A
|
rs781005728
|
0.00004
|
NM_020944.3(GBA2):c.1A>T (p.Met1Leu)
|
rs770566458
|
0.00004
|
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)
|
rs79853121
|
0.00004
|
NM_021098.3(CACNA1H):c.2990C>T (p.Ala997Val)
|
rs375023370
|
0.00004
|
NM_021098.3(CACNA1H):c.4736G>A (p.Arg1579Gln)
|
rs367947771
|
0.00004
|
NM_021628.3(ALOXE3):c.397A>G (p.Arg133Gly)
|
rs373520842
|
0.00004
|
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr)
|
rs78257946
|
0.00004
|
NM_021942.6(TRAPPC11):c.2330A>C (p.Gln777Pro)
|
rs758105113
|
0.00004
|
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup)
|
rs281865164
|
0.00004
|
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn)
|
rs727502920
|
0.00004
|
NM_022124.6(CDH23):c.1745G>A (p.Arg582Gln)
|
rs200263980
|
0.00004
|
NM_022124.6(CDH23):c.5747G>A (p.Arg1916His)
|
rs746971522
|
0.00004
|
NM_022124.6(CDH23):c.6557C>T (p.Ser2186Leu)
|
rs770370555
|
0.00004
|
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu)
|
rs1257849672
|
0.00004
|
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)
|
rs751970792
|
0.00004
|
NM_022436.3(ABCG5):c.658A>G (p.Thr220Ala)
|
rs781732933
|
0.00004
|
NM_022455.5(NSD1):c.3220C>T (p.Arg1074Cys)
|
rs775044010
|
0.00004
|
NM_022455.5(NSD1):c.3311A>G (p.His1104Arg)
|
rs758125212
|
0.00004
|
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro)
|
rs373836524
|
0.00004
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00004
|
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr)
|
rs777688726
|
0.00004
|
NM_024422.6(DSC2):c.2251-20G>A
|
rs779900062
|
0.00004
|
NM_024422.6(DSC2):c.286A>G (p.Ile96Val)
|
rs772447450
|
0.00004
|
NM_024422.6(DSC2):c.408A>G (p.Arg136=)
|
rs561653481
|
0.00004
|
NM_024570.4(RNASEH2B):c.744A>C (p.Lys248Asn)
|
rs748144224
|
0.00004
|
NM_024649.5(BBS1):c.745G>A (p.Val249Ile)
|
rs139145556
|
0.00004
|
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys)
|
rs373483056
|
0.00004
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
rs537258442
|
0.00004
|
NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr)
|
rs756116550
|
0.00004
|
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser)
|
rs587782579
|
0.00004
|
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)
|
rs376641234
|
0.00004
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys)
|
rs747785029
|
0.00004
|
NM_024675.4(PALB2):c.668T>C (p.Ile223Thr)
|
rs150517167
|
0.00004
|
NM_025074.7(FRAS1):c.10894C>T (p.Pro3632Ser)
|
rs576835969
|
0.00004
|
NM_025074.7(FRAS1):c.2080G>A (p.Glu694Lys)
|
rs773007418
|
0.00004
|
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His)
|
rs763801479
|
0.00004
|
NM_025265.4(TSEN2):c.472G>A (p.Val158Ile)
|
rs763286358
|
0.00004
|
NM_030662.4(MAP2K2):c.841C>T (p.Arg281Trp)
|
rs759998177
|
0.00004
|
NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn)
|
rs367623970
|
0.00004
|
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys)
|
rs766873519
|
0.00004
|
NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys)
|
rs746505864
|
0.00004
|
NM_032043.3(BRIP1):c.1000G>A (p.Ala334Thr)
|
rs535414791
|
0.00004
|
NM_032043.3(BRIP1):c.1090A>T (p.Ile364Phe)
|
rs770306753
|
0.00004
|
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp)
|
rs369631413
|
0.00004
|
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys)
|
rs146031731
|
0.00004
|
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp)
|
rs578022079
|
0.00004
|
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His)
|
rs367816363
|
0.00004
|
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala)
|
rs372799558
|
0.00004
|
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala)
|
rs202072866
|
0.00004
|
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe)
|
rs533184563
|
0.00004
|
NM_032119.4(ADGRV1):c.12335T>G (p.Leu4112Trp)
|
rs550815037
|
0.00004
|
NM_032121.5(MAGT1):c.31T>G (p.Phe11Val)
|
rs913458526
|
0.00004
|
NM_032444.4(SLX4):c.800C>T (p.Ala267Val)
|
rs752160984
|
0.00004
|
NM_032634.4(PIGO):c.365G>A (p.Arg122Gln)
|
rs756043994
|
0.00004
|
NM_033056.4(PCDH15):c.4864del (p.Ser1622fs)
|
rs1393195833
|
0.00004
|
NM_033380.3(COL4A5):c.4003C>T (p.Pro1335Ser)
|
rs757653472
|
0.00004
|
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)
|
rs765547005
|
0.00004
|
NM_053025.4(MYLK):c.1570G>A (p.Ala524Thr)
|
rs375501508
|
0.00004
|
NM_053025.4(MYLK):c.2132C>T (p.Thr711Met)
|
rs531232445
|
0.00004
|
NM_053025.4(MYLK):c.2391-16C>T
|
rs780727874
|
0.00004
|
NM_053025.4(MYLK):c.4303G>A (p.Val1435Met)
|
rs375433770
|
0.00004
|
NM_053025.4(MYLK):c.695C>T (p.Thr232Met)
|
rs55935214
|
0.00004
|
NM_058216.3(RAD51C):c.635G>A (p.Arg212His)
|
rs200857129
|
0.00004
|
NM_058216.3(RAD51C):c.721G>A (p.Val241Met)
|
rs184033132
|
0.00004
|
NM_058216.3(RAD51C):c.956G>A (p.Arg319Gln)
|
rs367846829
|
0.00004
|
NM_130797.4(DPP6):c.1820C>T (p.Pro607Leu)
|
rs760754791
|
0.00004
|
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter)
|
rs148430495
|
0.00004
|
NM_133459.4(CCBE1):c.916-2A>G
|
rs367990953
|
0.00004
|
NM_138694.4(PKHD1):c.2280-10C>T
|
rs749295454
|
0.00004
|
NM_138694.4(PKHD1):c.3433G>A (p.Val1145Ile)
|
rs147035447
|
0.00004
|
NM_139076.3(ABRAXAS1):c.580G>T (p.Ala194Ser)
|
rs1020540603
|
0.00004
|
NM_139319.3(SLC17A8):c.638C>G (p.Pro213Arg)
|
rs369209552
|
0.00004
|
NM_144670.6(A2ML1):c.1081-2A>G
|
rs377270924
|
0.00004
|
NM_144670.6(A2ML1):c.1378G>A (p.Gly460Ser)
|
rs758716034
|
0.00004
|
NM_144670.6(A2ML1):c.1774C>T (p.Arg592Trp)
|
rs748309907
|
0.00004
|
NM_144670.6(A2ML1):c.375G>T (p.Gln125His)
|
rs377484849
|
0.00004
|
NM_144991.3(TSPEAR):c.1819G>A (p.Asp607Asn)
|
rs587622341
|
0.00004
|
NM_145239.3(PRRT2):c.304G>A (p.Glu102Lys)
|
rs748419907
|
0.00004
|
NM_152296.5(ATP1A3):c.2885C>A (p.Pro962His)
|
rs145179304
|
0.00004
|
NM_152443.3(RDH12):c.284G>A (p.Arg95Gln)
|
rs765914942
|
0.00004
|
NM_153026.3(PRICKLE1):c.2044C>T (p.Arg682Cys)
|
rs768954477
|
0.00004
|
NM_153717.3(EVC):c.2305-6C>T
|
rs781705295
|
0.00004
|
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)
|
rs374726751
|
0.00004
|
NM_170707.4(LMNA):c.467G>A (p.Arg156His)
|
rs764475194
|
0.00004
|
NM_172107.4(KCNQ2):c.2315C>T (p.Pro772Leu)
|
rs774206764
|
0.00004
|
NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp)
|
rs141423405
|
0.00004
|
NM_173076.3(ABCA12):c.6305A>T (p.Tyr2102Phe)
|
rs770806176
|
0.00004
|
NM_174934.4(SCN4B):c.463+3A>T
|
rs751139039
|
0.00004
|
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala)
|
rs772677312
|
0.00004
|
NM_174936.4(PCSK9):c.1863+1G>A
|
rs765335983
|
0.00004
|
NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp)
|
rs193922477
|
0.00004
|
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln)
|
rs371124358
|
0.00004
|
NM_181458.4(PAX3):c.874G>A (p.Gly292Arg)
|
rs142651003
|
0.00004
|
NM_181552.4(CUX1):c.358G>A (p.Glu120Lys)
|
rs1042943750
|
0.00004
|
NM_182914.3(SYNE2):c.11108A>G (p.Glu3703Gly)
|
rs763363520
|
0.00004
|
NM_182914.3(SYNE2):c.11665G>A (p.Ala3889Thr)
|
rs759802358
|
0.00004
|
NM_182943.3(PLOD2):c.1138C>T (p.Arg380Cys)
|
rs376005437
|
0.00004
|
NM_182943.3(PLOD2):c.1280A>G (p.Asn427Ser)
|
rs893004444
|
0.00004
|
NM_182961.4(SYNE1):c.4075A>G (p.Thr1359Ala)
|
rs377718960
|
0.00004
|
NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe)
|
rs398124591
|
0.00004
|
NM_199242.3(UNC13D):c.335G>C (p.Cys112Ser)
|
rs141540493
|
0.00004
|
NM_199242.3(UNC13D):c.5C>T (p.Ala2Val)
|
rs752295384
|
0.00004
|
NM_201548.5(CERKL):c.950G>A (p.Arg317His)
|
rs150587104
|
0.00004
|
NM_203446.3(SYNJ1):c.1744A>G (p.Thr582Ala)
|
rs370817503
|
0.00004
|
NM_206933.4(USH2A):c.10807G>A (p.Ala3603Thr)
|
rs539580993
|
0.00004
|
NM_206933.4(USH2A):c.10931C>T (p.Thr3644Met)
|
rs185823130
|
0.00004
|
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)
|
rs749889050
|
0.00004
|
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly)
|
rs201026468
|
0.00004
|
NM_207346.3(TSEN54):c.1430+4C>T
|
rs202109896
|
0.00004
|
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys)
|
rs537072819
|
0.00003
|
NM_000017.4(ACADS):c.991G>A (p.Ala331Thr)
|
rs1267288663
|
0.00003
|
NM_000018.4(ACADVL):c.1931G>A (p.Arg644Gln)
|
rs774762384
|
0.00003
|
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)
|
rs777820729
|
0.00003
|
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)
|
rs121908718
|
0.00003
|
NM_000022.4(ADA):c.945G>A (p.Met315Ile)
|
rs889823379
|
0.00003
|
NM_000033.4(ABCD1):c.31C>G (p.Arg11Gly)
|
rs1224689084
|
0.00003
|
NM_000038.6(APC):c.1241G>A (p.Arg414His)
|
rs730881233
|
0.00003
|
NM_000038.6(APC):c.1495C>G (p.Arg499Gly)
|
rs137854580
|
0.00003
|
NM_000038.6(APC):c.2090C>T (p.Ala697Val)
|
rs761733547
|
0.00003
|
NM_000038.6(APC):c.3299C>T (p.Ser1100Phe)
|
rs863224541
|
0.00003
|
NM_000038.6(APC):c.3529A>G (p.Ile1177Val)
|
rs369834416
|
0.00003
|
NM_000038.6(APC):c.379A>G (p.Ser127Gly)
|
rs200089324
|
0.00003
|
NM_000038.6(APC):c.4016G>A (p.Gly1339Asp)
|
rs781621926
|
0.00003
|
NM_000038.6(APC):c.5179T>C (p.Cys1727Arg)
|
rs758815860
|
0.00003
|
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser)
|
rs587779799
|
0.00003
|
NM_000038.6(APC):c.647G>A (p.Arg216Gln)
|
rs76685252
|
0.00003
|
NM_000038.6(APC):c.7174C>A (p.Pro2392Thr)
|
rs730881257
|
0.00003
|
NM_000038.6(APC):c.757G>A (p.Gly253Ser)
|
rs772806807
|
0.00003
|
NM_000038.6(APC):c.8273A>G (p.Glu2758Gly)
|
rs371616945
|
0.00003
|
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)
|
rs369264968
|
0.00003
|
NM_000044.6(AR):c.2659A>G (p.Met887Val)
|
rs755226547
|
0.00003
|
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe)
|
rs370240037
|
0.00003
|
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)
|
rs377597949
|
0.00003
|
NM_000051.4(ATM):c.1608-3T>C
|
rs774196176
|
0.00003
|
NM_000051.4(ATM):c.1943T>C (p.Val648Ala)
|
rs141175037
|
0.00003
|
NM_000051.4(ATM):c.2150G>C (p.Arg717Pro)
|
rs768874297
|
0.00003
|
NM_000051.4(ATM):c.2354G>A (p.Arg785His)
|
rs587782128
|
0.00003
|
NM_000051.4(ATM):c.2396C>T (p.Ala799Val)
|
rs199954262
|
0.00003
|
NM_000051.4(ATM):c.2449G>C (p.Asp817His)
|
rs587778067
|
0.00003
|
NM_000051.4(ATM):c.2561C>A (p.Ser854Tyr)
|
rs778123895
|
0.00003
|
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg)
|
rs730881353
|
0.00003
|
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00003
|
NM_000051.4(ATM):c.2942G>A (p.Arg981His)
|
rs755896387
|
0.00003
|
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)
|
rs372966951
|
0.00003
|
NM_000051.4(ATM):c.3544G>C (p.Glu1182Gln)
|
rs377349886
|
0.00003
|
NM_000051.4(ATM):c.379A>T (p.Thr127Ser)
|
rs587781741
|
0.00003
|
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr)
|
rs769980220
|
0.00003
|
NM_000051.4(ATM):c.4437-7A>G
|
rs370354306
|
0.00003
|
NM_000051.4(ATM):c.4444T>C (p.Cys1482Arg)
|
rs752559455
|
0.00003
|
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr)
|
rs786201215
|
0.00003
|
NM_000051.4(ATM):c.5005+7T>C
|
rs527286038
|
0.00003
|
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln)
|
rs373789346
|
0.00003
|
NM_000051.4(ATM):c.649A>G (p.Ile217Val)
|
rs547045780
|
0.00003
|
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp)
|
rs730881311
|
0.00003
|
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys)
|
rs730881383
|
0.00003
|
NM_000051.4(ATM):c.8152-6C>T
|
rs200389039
|
0.00003
|
NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del)
|
rs772383075
|
0.00003
|
NM_000053.4(ATP7B):c.3106G>A (p.Val1036Ile)
|
rs761147984
|
0.00003
|
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His)
|
rs778749563
|
0.00003
|
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met)
|
rs587779891
|
0.00003
|
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr)
|
rs80358396
|
0.00003
|
NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)
|
rs587782137
|
0.00003
|
NM_000059.4(BRCA2):c.1216G>A (p.Ala406Thr)
|
rs751535164
|
0.00003
|
NM_000059.4(BRCA2):c.1219C>G (p.Gln407Glu)
|
rs781079248
|
0.00003
|
NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg)
|
rs587780646
|
0.00003
|
NM_000059.4(BRCA2):c.2593G>C (p.Glu865Gln)
|
rs587782014
|
0.00003
|
NM_000059.4(BRCA2):c.3329A>T (p.Glu1110Val)
|
rs587782072
|
0.00003
|
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)
|
rs28897723
|
0.00003
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
NM_000059.4(BRCA2):c.4527A>C (p.Gln1509His)
|
rs56283738
|
0.00003
|
NM_000059.4(BRCA2):c.5228G>A (p.Ser1743Asn)
|
rs587782714
|
0.00003
|
NM_000059.4(BRCA2):c.5632A>G (p.Asn1878Asp)
|
rs397507358
|
0.00003
|
NM_000059.4(BRCA2):c.663T>G (p.Phe221Leu)
|
rs80358891
|
0.00003
|
NM_000059.4(BRCA2):c.6827C>A (p.Pro2276His)
|
rs748541466
|
0.00003
|
NM_000059.4(BRCA2):c.6842-14A>G
|
rs81002821
|
0.00003
|
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val)
|
rs80359162
|
0.00003
|
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile)
|
rs80359194
|
0.00003
|
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn)
|
rs200844059
|
0.00003
|
NM_000070.3(CAPN3):c.2417T>G (p.Ile806Ser)
|
rs753854306
|
0.00003
|
NM_000070.3(CAPN3):c.440G>A (p.Arg147Gln)
|
rs139671324
|
0.00003
|
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)
|
rs863223434
|
0.00003
|
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)
|
rs756467921
|
0.00003
|
NM_000071.3(CBS):c.415G>A (p.Gly139Arg)
|
rs121964965
|
0.00003
|
NM_000075.4(CDK4):c.254G>A (p.Arg85Gln)
|
rs587778184
|
0.00003
|
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly)
|
rs372670098
|
0.00003
|
NM_000077.5(CDKN2A):c.25A>T (p.Met9Leu)
|
rs748866274
|
0.00003
|
NM_000083.3(CLCN1):c.2437C>A (p.Pro813Thr)
|
rs139881658
|
0.00003
|
NM_000089.4(COL1A2):c.700C>T (p.Arg234Cys)
|
rs1206388800
|
0.00003
|
NM_000090.4(COL3A1):c.1816-4T>C
|
rs765128089
|
0.00003
|
NM_000090.4(COL3A1):c.2038C>T (p.Pro680Ser)
|
rs372027308
|
0.00003
|
NM_000090.4(COL3A1):c.2125G>T (p.Ala709Ser)
|
rs201468881
|
0.00003
|
NM_000096.4(CP):c.1049C>A (p.Ala350Asp)
|
rs386134127
|
0.00003
|
NM_000110.4(DPYD):c.1796T>C (p.Met599Thr)
|
rs147601618
|
0.00003
|
NM_000110.4(DPYD):c.2378C>T (p.Thr793Ile)
|
rs547099198
|
0.00003
|
NM_000110.4(DPYD):c.2657G>A (p.Arg886His)
|
rs1801267
|
0.00003
|
NM_000112.4(SLC26A2):c.403C>A (p.Gln135Lys)
|
rs386833504
|
0.00003
|
NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu)
|
rs116715649
|
0.00003
|
NM_000132.4(F8):c.2852C>G (p.Ser951Cys)
|
rs138183956
|
0.00003
|
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln)
|
rs781876217
|
0.00003
|
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg)
|
rs768676657
|
0.00003
|
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)
|
rs747189975
|
0.00003
|
NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val)
|
rs539103389
|
0.00003
|
NM_000138.5(FBN1):c.5066-7C>G
|
rs377369765
|
0.00003
|
NM_000138.5(FBN1):c.6314-16A>G
|
rs759468929
|
0.00003
|
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)
|
rs146063839
|
0.00003
|
NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile)
|
rs778027769
|
0.00003
|
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg)
|
rs374630707
|
0.00003
|
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys)
|
rs750199580
|
0.00003
|
NM_000141.5(FGFR2):c.2195+7G>A
|
rs377397478
|
0.00003
|
NM_000152.5(GAA):c.1437+8G>A
|
rs779194427
|
0.00003
|
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)
|
rs61736895
|
0.00003
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
NM_000153.4(GALC):c.2035T>C (p.Phe679Leu)
|
rs779202612
|
0.00003
|
NM_000154.2(GALK1):c.552C>G (p.Ile184Met)
|
rs773416476
|
0.00003
|
NM_000155.4(GALT):c.200G>A (p.Arg67His)
|
rs758430398
|
0.00003
|
NM_000155.4(GALT):c.640G>A (p.Gly214Arg)
|
rs1413579895
|
0.00003
|
NM_000162.5(GCK):c.142G>A (p.Glu48Lys)
|
rs759514960
|
0.00003
|
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln)
|
rs869312163
|
0.00003
|
NM_000179.3(MSH6):c.-2G>T
|
rs374748889
|
0.00003
|
NM_000179.3(MSH6):c.-6G>C
|
rs730881822
|
0.00003
|
NM_000179.3(MSH6):c.1120_1122del (p.Lys374del)
|
rs587781660
|
0.00003
|
NM_000179.3(MSH6):c.1822A>G (p.Ile608Val)
|
rs201613780
|
0.00003
|
NM_000179.3(MSH6):c.1870G>A (p.Gly624Ser)
|
rs868760377
|
0.00003
|
NM_000179.3(MSH6):c.1915G>A (p.Glu639Lys)
|
rs143517321
|
0.00003
|
NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr)
|
rs587779926
|
0.00003
|
NM_000179.3(MSH6):c.3173-10C>T
|
rs587780559
|
0.00003
|
NM_000179.3(MSH6):c.3197A>G (p.Tyr1066Cys)
|
rs372103816
|
0.00003
|
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His)
|
rs63750253
|
0.00003
|
NM_000179.3(MSH6):c.3772C>G (p.Gln1258Glu)
|
rs63750554
|
0.00003
|
NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys)
|
rs367912290
|
0.00003
|
NM_000179.3(MSH6):c.3800T>C (p.Met1267Thr)
|
rs148445930
|
0.00003
|
NM_000179.3(MSH6):c.3930G>C (p.Glu1310Asp)
|
rs267608129
|
0.00003
|
NM_000179.3(MSH6):c.3974A>G (p.Lys1325Arg)
|
rs876658189
|
0.00003
|
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys)
|
rs730881813
|
0.00003
|
NM_000179.3(MSH6):c.719G>A (p.Arg240Gln)
|
rs542848931
|
0.00003
|
NM_000182.5(HADHA):c.1391C>T (p.Ala464Val)
|
rs147409050
|
0.00003
|
NM_000188.3(HK1):c.2381G>A (p.Arg794Gln)
|
rs780518562
|
0.00003
|
NM_000199.5(SGSH):c.391G>A (p.Val131Met)
|
rs370636303
|
0.00003
|
NM_000204.5(CFI):c.1071T>G (p.Ile357Met)
|
rs200881135
|
0.00003
|
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp)
|
rs768554175
|
0.00003
|
NM_000218.3(KCNQ1):c.1514+3G>A
|
rs374767819
|
0.00003
|
NM_000228.3(LAMB3):c.2036C>T (p.Pro679Leu)
|
rs201223111
|
0.00003
|
NM_000232.5(SGCB):c.191T>C (p.Leu64Ser)
|
rs747795143
|
0.00003
|
NM_000237.3(LPL):c.190G>A (p.Val64Met)
|
rs114101772
|
0.00003
|
NM_000238.4(KCNH2):c.2792C>T (p.Pro931Leu)
|
rs749759697
|
0.00003
|
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)
|
rs199473011
|
0.00003
|
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp)
|
rs373394254
|
0.00003
|
NM_000243.3(MEFV):c.1886dup (p.Pro630fs)
|
rs876660997
|
0.00003
|
NM_000243.3(MEFV):c.2123G>A (p.Arg708His)
|
rs200375017
|
0.00003
|
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)
|
rs104895201
|
0.00003
|
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu)
|
rs104895134
|
0.00003
|
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn)
|
rs771044689
|
0.00003
|
NM_000249.4(MLH1):c.1562T>A (p.Leu521His)
|
rs1258738224
|
0.00003
|
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)
|
rs56185292
|
0.00003
|
NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln)
|
rs63749900
|
0.00003
|
NM_000249.4(MLH1):c.453+20G>T
|
rs759417195
|
0.00003
|
NM_000249.4(MLH1):c.991G>A (p.Glu331Lys)
|
rs550914672
|
0.00003
|
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys)
|
rs752373431
|
0.00003
|
NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys)
|
rs63751412
|
0.00003
|
NM_000251.3(MSH2):c.1382A>C (p.Asp461Ala)
|
rs730881756
|
0.00003
|
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)
|
rs56170584
|
0.00003
|
NM_000251.3(MSH2):c.1724A>G (p.Asp575Gly)
|
rs370330868
|
0.00003
|
NM_000251.3(MSH2):c.211+8C>T
|
rs267607916
|
0.00003
|
NM_000251.3(MSH2):c.2211-5T>G
|
rs368596736
|
0.00003
|
NM_000251.3(MSH2):c.2458+8C>G
|
rs189025757
|
0.00003
|
NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr)
|
rs747700106
|
0.00003
|
NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp)
|
rs587781453
|
0.00003
|
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys)
|
rs587779969
|
0.00003
|
NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)
|
rs767747378
|
0.00003
|
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)
|
rs375351205
|
0.00003
|
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp)
|
rs267607938
|
0.00003
|
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu)
|
rs1269517446
|
0.00003
|
NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln)
|
rs727504346
|
0.00003
|
NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys)
|
rs397516069
|
0.00003
|
NM_000257.4(MYH7):c.5471A>G (p.Asn1824Ser)
|
rs760218400
|
0.00003
|
NM_000258.3(MYL3):c.245C>T (p.Ala82Val)
|
rs752549068
|
0.00003
|
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro)
|
rs372188355
|
0.00003
|
NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys)
|
rs781916427
|
0.00003
|
NM_000271.5(NPC1):c.3689T>C (p.Leu1230Ser)
|
rs374150662
|
0.00003
|
NM_000275.3(OCA2):c.1048G>A (p.Val350Met)
|
rs533478642
|
0.00003
|
NM_000276.4(OCRL):c.40A>G (p.Thr14Ala)
|
rs371099243
|
0.00003
|
NM_000277.3(PAH):c.157C>T (p.Arg53Cys)
|
rs199475619
|
0.00003
|
NM_000282.4(PCCA):c.2T>C (p.Met1Thr)
|
rs372093520
|
0.00003
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_000292.3(PHKA2):c.200G>A (p.Arg67His)
|
rs768524028
|
0.00003
|
NM_000302.4(PLOD1):c.1772G>A (p.Gly591Asp)
|
rs748646169
|
0.00003
|
NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu)
|
rs557317492
|
0.00003
|
NM_000303.3(PMM2):c.200T>G (p.Val67Gly)
|
rs751986971
|
0.00003
|
NM_000311.5(PRNP):c.565G>A (p.Val189Ile)
|
rs1178466848
|
0.00003
|
NM_000314.8(PTEN):c.-799G>C
|
rs587779992
|
0.00003
|
NM_000334.4(SCN4A):c.4540G>A (p.Asp1514Asn)
|
rs374278037
|
0.00003
|
NM_000335.5(SCN5A):c.1706G>A (p.Arg569Gln)
|
rs769292594
|
0.00003
|
NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile)
|
rs557957405
|
0.00003
|
NM_000335.5(SCN5A):c.482+10T>G
|
rs762598150
|
0.00003
|
NM_000335.5(SCN5A):c.5371G>A (p.Asp1791Asn)
|
rs727504495
|
0.00003
|
NM_000335.5(SCN5A):c.5752C>T (p.Arg1918Cys)
|
rs199473328
|
0.00003
|
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp)
|
rs371308670
|
0.00003
|
NM_000350.3(ABCA4):c.2147C>T (p.Thr716Met)
|
rs61749426
|
0.00003
|
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys)
|
rs59852838
|
0.00003
|
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln)
|
rs1420601296
|
0.00003
|
NM_000359.3(TGM1):c.248G>A (p.Arg83Gln)
|
rs771051927
|
0.00003
|
NM_000371.4(TTR):c.370C>T (p.Arg124Cys)
|
rs745834030
|
0.00003
|
NM_000381.4(MID1):c.1888G>A (p.Asp630Asn)
|
rs150291968
|
0.00003
|
NM_000383.4(AIRE):c.1031C>T (p.Thr344Ile)
|
rs929430876
|
0.00003
|
NM_000384.3(APOB):c.10541C>T (p.Ala3514Val)
|
rs1450324476
|
0.00003
|
NM_000388.4(CASR):c.1327C>A (p.Leu443Ile)
|
rs267599574
|
0.00003
|
NM_000388.4(CASR):c.566A>G (p.Asn189Ser)
|
rs762998933
|
0.00003
|
NM_000393.5(COL5A2):c.1005+3A>G
|
rs375809563
|
0.00003
|
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val)
|
rs886039197
|
0.00003
|
NM_000393.5(COL5A2):c.2711C>T (p.Pro904Leu)
|
rs189320512
|
0.00003
|
NM_000404.4(GLB1):c.734-8A>G
|
rs398123357
|
0.00003
|
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His)
|
rs201009485
|
0.00003
|
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)
|
rs748057401
|
0.00003
|
NM_000426.4(LAMA2):c.4717+4C>T
|
rs200898063
|
0.00003
|
NM_000443.4(ABCB4):c.1801G>T (p.Ala601Ser)
|
rs1037196284
|
0.00003
|
NM_000443.4(ABCB4):c.857C>T (p.Ala286Val)
|
rs765478923
|
0.00003
|
NM_000444.6(PHEX):c.598A>G (p.Asn200Asp)
|
rs1293482406
|
0.00003
|
NM_000448.3(RAG1):c.2258A>T (p.His753Leu)
|
rs199474687
|
0.00003
|
NM_000455.5(STK11):c.1193C>T (p.Ala398Val)
|
rs768058962
|
0.00003
|
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg)
|
rs878853996
|
0.00003
|
NM_000465.4(BARD1):c.1724G>A (p.Ser575Asn)
|
rs774352844
|
0.00003
|
NM_000465.4(BARD1):c.1904-5G>A
|
rs376639978
|
0.00003
|
NM_000465.4(BARD1):c.212G>T (p.Cys71Phe)
|
rs1064793959
|
0.00003
|
NM_000465.4(BARD1):c.2137G>A (p.Val713Met)
|
rs546077003
|
0.00003
|
NM_000465.4(BARD1):c.266C>T (p.Pro89Leu)
|
rs780241203
|
0.00003
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn)
|
rs556880586
|
0.00003
|
NM_000492.4(CFTR):c.1231A>G (p.Lys411Glu)
|
rs748155731
|
0.00003
|
NM_000492.4(CFTR):c.1247A>G (p.Asn416Ser)
|
rs777850419
|
0.00003
|
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser)
|
rs397508185
|
0.00003
|
NM_000492.4(CFTR):c.1429C>T (p.Pro477Ser)
|
rs139054556
|
0.00003
|
NM_000492.4(CFTR):c.1450C>T (p.His484Tyr)
|
rs397508210
|
0.00003
|
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser)
|
rs762224063
|
0.00003
|
NM_000492.4(CFTR):c.1766G>C (p.Ser589Thr)
|
rs397508300
|
0.00003
|
NM_000492.4(CFTR):c.1951G>A (p.Asp651Asn)
|
rs780526529
|
0.00003
|
NM_000492.4(CFTR):c.204A>T (p.Lys68Asn)
|
rs397508335
|
0.00003
|
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly)
|
rs145449046
|
0.00003
|
NM_000492.4(CFTR):c.2392C>T (p.Pro798Ser)
|
rs138069616
|
0.00003
|
NM_000492.4(CFTR):c.2476G>A (p.Glu826Lys)
|
rs397508381
|
0.00003
|
NM_000492.4(CFTR):c.250T>C (p.Tyr84His)
|
rs745756794
|
0.00003
|
NM_000492.4(CFTR):c.2540A>G (p.Asn847Ser)
|
rs562851847
|
0.00003
|
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
NM_000492.4(CFTR):c.2836A>G (p.Lys946Glu)
|
rs397508443
|
0.00003
|
NM_000492.4(CFTR):c.2895C>A (p.Asn965Lys)
|
rs779569793
|
0.00003
|
NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu)
|
rs373561883
|
0.00003
|
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)
|
rs193922516
|
0.00003
|
NM_000492.4(CFTR):c.3128T>A (p.Leu1043Gln)
|
rs1026006397
|
0.00003
|
NM_000492.4(CFTR):c.3473G>A (p.Arg1158Gln)
|
rs763401376
|
0.00003
|
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys)
|
rs377295859
|
0.00003
|
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile)
|
rs769931559
|
0.00003
|
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe)
|
rs145545286
|
0.00003
|
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser)
|
rs368427311
|
0.00003
|
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)
|
rs397508670
|
0.00003
|
NM_000492.4(CFTR):c.489+8T>G
|
rs727504712
|
0.00003
|
NM_000492.4(CFTR):c.561C>A (p.Asn187Lys)
|
rs397508754
|
0.00003
|
NM_000492.4(CFTR):c.610G>A (p.Ala204Thr)
|
rs748026786
|
0.00003
|
NM_000492.4(CFTR):c.674G>A (p.Cys225Tyr)
|
rs866473559
|
0.00003
|
NM_000492.4(CFTR):c.697C>G (p.Leu233Val)
|
rs775713428
|
0.00003
|
NM_000492.4(CFTR):c.837A>T (p.Glu279Asp)
|
rs773509355
|
0.00003
|
NM_000501.4(ELN):c.1168G>A (p.Gly390Arg)
|
rs372889752
|
0.00003
|
NM_000512.5(GALNS):c.269G>A (p.Arg90Gln)
|
rs754731091
|
0.00003
|
NM_000518.4(HBB):c.404T>C (p.Val135Ala)
|
rs33966761
|
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.316-28G>A
|
rs771736852
|
0.00003
|
NM_000518.5(HBB):c.316-7C>A
|
rs34483965
|
0.00003
|
NM_000518.5(HBB):c.50G>A (p.Gly17Asp)
|
rs33962676
|
0.00003
|
NM_000520.6(HEXA):c.640G>A (p.Glu214Lys)
|
rs1227959449
|
0.00003
|
NM_000527.5(LDLR):c.1954A>G (p.Met652Val)
|
rs730882111
|
0.00003
|
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro)
|
rs879255203
|
0.00003
|
NM_000527.5(LDLR):c.2510A>G (p.His837Arg)
|
rs150631538
|
0.00003
|
NM_000528.4(MAN2B1):c.1230+5G>T
|
rs1398531876
|
0.00003
|
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val)
|
rs967834240
|
0.00003
|
NM_000528.4(MAN2B1):c.2355+6T>A
|
rs1052970162
|
0.00003
|
NM_000535.7(PMS2):c.1096G>C (p.Asp366His)
|
rs141769057
|
0.00003
|
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg)
|
rs146848345
|
0.00003
|
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr)
|
rs63750686
|
0.00003
|
NM_000535.7(PMS2):c.1720C>T (p.Pro574Ser)
|
rs758018736
|
0.00003
|
NM_000535.7(PMS2):c.1732C>A (p.Arg578Ser)
|
rs63750534
|
0.00003
|
NM_000535.7(PMS2):c.1837A>C (p.Lys613Gln)
|
rs63751230
|
0.00003
|
NM_000535.7(PMS2):c.1954A>T (p.Ile652Phe)
|
rs748927376
|
0.00003
|
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)
|
rs587780045
|
0.00003
|
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser)
|
rs864622274
|
0.00003
|
NM_000535.7(PMS2):c.355G>A (p.Asp119Asn)
|
rs587781913
|
0.00003
|
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu)
|
rs761748894
|
0.00003
|
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp)
|
rs573374779
|
0.00003
|
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp)
|
rs876661233
|
0.00003
|
NM_000535.7(PMS2):c.751G>A (p.Val251Met)
|
rs142434011
|
0.00003
|
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)
|
rs114185660
|
0.00003
|
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)
|
rs120074122
|
0.00003
|
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys)
|
rs371544082
|
0.00003
|
NM_000546.6(TP53):c.329G>A (p.Arg110His)
|
rs11540654
|
0.00003
|
NM_000546.6(TP53):c.467G>A (p.Arg156His)
|
rs371524413
|
0.00003
|
NM_000548.5(TSC2):c.4901G>A (p.Arg1634His)
|
rs201694466
|
0.00003
|
NM_000552.5(VWF):c.2435C>T (p.Pro812Leu)
|
rs62643631
|
0.00003
|
NM_000552.5(VWF):c.5311G>A (p.Gly1771Arg)
|
rs370016586
|
0.00003
|
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)
|
rs374528680
|
0.00003
|
NM_000720.4(CACNA1D):c.1502C>T (p.Ala501Val)
|
rs748425556
|
0.00003
|
NM_000744.7(CHRNA4):c.442C>T (p.Arg148Trp)
|
rs121912243
|
0.00003
|
NM_000784.4(CYP27A1):c.20C>T (p.Ala7Val)
|
rs1364383591
|
0.00003
|
NM_001005242.3(PKP2):c.611G>A (p.Arg204His)
|
rs755215178
|
0.00003
|
NM_001008216.2(GALE):c.652G>A (p.Gly218Arg)
|
rs747453873
|
0.00003
|
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn)
|
rs773329559
|
0.00003
|
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val)
|
rs767834829
|
0.00003
|
NM_001018005.2(TPM1):c.563+16G>A
|
rs375227208
|
0.00003
|
NM_001018005.2(TPM1):c.563+347C>T
|
rs759081217
|
0.00003
|
NM_001035.3(RYR2):c.11497G>A (p.Asp3833Asn)
|
rs768711283
|
0.00003
|
NM_001035.3(RYR2):c.13327G>A (p.Glu4443Lys)
|
rs1409192667
|
0.00003
|
NM_001035.3(RYR2):c.5762G>A (p.Arg1921Gln)
|
rs370568809
|
0.00003
|
NM_001036.6(RYR3):c.7802A>G (p.Lys2601Arg)
|
rs754866375
|
0.00003
|
NM_001039591.3(USP9X):c.5875A>G (p.Ile1959Val)
|
rs748796919
|
0.00003
|
NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu)
|
rs769840061
|
0.00003
|
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser)
|
rs753189381
|
0.00003
|
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser)
|
rs1060500299
|
0.00003
|
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val)
|
rs957203033
|
0.00003
|
NM_001048174.2(MUTYH):c.1007G>A (p.Arg336His)
|
rs587780741
|
0.00003
|
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln)
|
rs587780081
|
0.00003
|
NM_001048174.2(MUTYH):c.263G>A (p.Arg88Gln)
|
rs587782683
|
0.00003
|
NM_001048174.2(MUTYH):c.356A>G (p.Asn119Ser)
|
rs771641237
|
0.00003
|
NM_001048174.2(MUTYH):c.953C>T (p.Ser318Leu)
|
rs587778538
|
0.00003
|
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr)
|
rs587782773
|
0.00003
|
NM_001077365.2(POMT1):c.1963C>T (p.Leu655Phe)
|
rs547373832
|
0.00003
|
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys)
|
rs397514609
|
0.00003
|
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr)
|
rs373418195
|
0.00003
|
NM_001083116.3(PRF1):c.112G>A (p.Val38Met)
|
rs201909472
|
0.00003
|
NM_001085049.3(MRAS):c.500C>G (p.Ala167Gly)
|
rs762347485
|
0.00003
|
NM_001101362.3(KBTBD13):c.230A>G (p.Glu77Gly)
|
rs1384295949
|
0.00003
|
NM_001103.4(ACTN2):c.2162G>A (p.Arg721His)
|
rs546431200
|
0.00003
|
NM_001103.4(ACTN2):c.401T>C (p.Ile134Thr)
|
rs770368711
|
0.00003
|
NM_001110219.3(GJB6):c.322C>T (p.Arg108Ter)
|
rs772862268
|
0.00003
|
NM_001110556.2(FLNA):c.3224C>T (p.Pro1075Leu)
|
rs782406278
|
0.00003
|
NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr)
|
rs370202395
|
0.00003
|
NM_001110556.2(FLNA):c.3695C>T (p.Thr1232Ile)
|
rs782495669
|
0.00003
|
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)
|
rs782281134
|
0.00003
|
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met)
|
rs369791082
|
0.00003
|
NM_001110556.2(FLNA):c.806T>A (p.Leu269Gln)
|
rs782157170
|
0.00003
|
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys)
|
rs782314807
|
0.00003
|
NM_001110792.2(MECP2):c.641C>G (p.Ala214Gly)
|
rs587783138
|
0.00003
|
NM_001111125.3(IQSEC2):c.4050C>A (p.His1350Gln)
|
rs1449945045
|
0.00003
|
NM_001114753.3(ENG):c.690-5C>T
|
rs374628465
|
0.00003
|
NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr)
|
rs200395970
|
0.00003
|
NM_001126049.2(KLLN):c.-803T>A
|
rs587782616
|
0.00003
|
NM_001127178.3(PIGG):c.956C>T (p.Ala319Val)
|
rs779032464
|
0.00003
|
NM_001127222.2(CACNA1A):c.35A>G (p.Tyr12Cys)
|
rs994265107
|
0.00003
|
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met)
|
rs776203885
|
0.00003
|
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met)
|
rs769739410
|
0.00003
|
NM_001130987.2(DYSF):c.3170G>A (p.Arg1057Gln)
|
rs149617331
|
0.00003
|
NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu)
|
rs766153322
|
0.00003
|
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)
|
rs1015857165
|
0.00003
|
NM_001145809.2(MYH14):c.1631C>T (p.Pro544Leu)
|
rs371300947
|
0.00003
|
NM_001145809.2(MYH14):c.488G>A (p.Arg163Gln)
|
rs558956312
|
0.00003
|
NM_001148.6(ANK2):c.3572G>A (p.Arg1191Gln)
|
rs780110299
|
0.00003
|
NM_001148.6(ANK2):c.4912A>G (p.Asn1638Asp)
|
rs748573794
|
0.00003
|
NM_001148.6(ANK2):c.8417T>C (p.Val2806Ala)
|
rs769091762
|
0.00003
|
NM_001160372.4(TRAPPC9):c.805C>T (p.Arg269Trp)
|
rs779077167
|
0.00003
|
NM_001164508.2(NEB):c.19101+4C>T
|
rs778716460
|
0.00003
|
NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu)
|
rs149225252
|
0.00003
|
NM_001174089.2(SLC4A11):c.2213C>T (p.Thr738Met)
|
rs267607066
|
0.00003
|
NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser)
|
rs758972393
|
0.00003
|
NM_001232.4(CASQ2):c.234+3A>G
|
rs727502909
|
0.00003
|
NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys)
|
rs373227317
|
0.00003
|
NM_001267550.2(TTN):c.102105T>A (p.Asp34035Glu)
|
rs370647845
|
0.00003
|
NM_001267550.2(TTN):c.104027C>G (p.Thr34676Arg)
|
rs761644963
|
0.00003
|
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met)
|
rs747161494
|
0.00003
|
NM_001267550.2(TTN):c.106489T>G (p.Ser35497Ala)
|
rs369870182
|
0.00003
|
NM_001267550.2(TTN):c.14093-4G>A
|
rs373530196
|
0.00003
|
NM_001267550.2(TTN):c.15196A>G (p.Ser5066Gly)
|
rs756793304
|
0.00003
|
NM_001267550.2(TTN):c.16160G>C (p.Arg5387Thr)
|
rs748155563
|
0.00003
|
NM_001267550.2(TTN):c.19715-1G>A
|
rs767658044
|
0.00003
|
NM_001267550.2(TTN):c.21163G>T (p.Gly7055Trp)
|
rs375219301
|
0.00003
|
NM_001267550.2(TTN):c.23295A>C (p.Glu7765Asp)
|
rs774259283
|
0.00003
|
NM_001267550.2(TTN):c.25829A>G (p.His8610Arg)
|
rs561059250
|
0.00003
|
NM_001267550.2(TTN):c.26380T>G (p.Leu8794Val)
|
rs372229450
|
0.00003
|
NM_001267550.2(TTN):c.26C>T (p.Thr9Met)
|
rs146123323
|
0.00003
|
NM_001267550.2(TTN):c.27676T>C (p.Cys9226Arg)
|
rs372820178
|
0.00003
|
NM_001267550.2(TTN):c.27928G>A (p.Val9310Ile)
|
rs200207722
|
0.00003
|
NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile)
|
rs763955552
|
0.00003
|
NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln)
|
rs376287951
|
0.00003
|
NM_001267550.2(TTN):c.35083G>A (p.Glu11695Lys)
|
rs376117402
|
0.00003
|
NM_001267550.2(TTN):c.35357C>G (p.Pro11786Arg)
|
rs375057451
|
0.00003
|
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)
|
rs199889888
|
0.00003
|
NM_001267550.2(TTN):c.41098G>A (p.Val13700Ile)
|
rs748716483
|
0.00003
|
NM_001267550.2(TTN):c.41932G>A (p.Glu13978Lys)
|
rs746667196
|
0.00003
|
NM_001267550.2(TTN):c.44916T>A (p.Val14972=)
|
rs373390402
|
0.00003
|
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn)
|
rs727503622
|
0.00003
|
NM_001267550.2(TTN):c.48118C>T (p.Arg16040Cys)
|
rs774736458
|
0.00003
|
NM_001267550.2(TTN):c.48461-18C>G
|
rs759697221
|
0.00003
|
NM_001267550.2(TTN):c.48853A>C (p.Lys16285Gln)
|
rs780017546
|
0.00003
|
NM_001267550.2(TTN):c.49235C>G (p.Ala16412Gly)
|
rs746659077
|
0.00003
|
NM_001267550.2(TTN):c.50812G>C (p.Glu16938Gln)
|
rs72677250
|
0.00003
|
NM_001267550.2(TTN):c.57826C>T (p.Leu19276Phe)
|
rs756493505
|
0.00003
|
NM_001267550.2(TTN):c.61447C>T (p.Arg20483Cys)
|
rs770139489
|
0.00003
|
NM_001267550.2(TTN):c.65276-16C>T
|
rs370634364
|
0.00003
|
NM_001267550.2(TTN):c.73213G>A (p.Glu24405Lys)
|
rs764485436
|
0.00003
|
NM_001267550.2(TTN):c.74814T>A (p.Ser24938Arg)
|
rs747593205
|
0.00003
|
NM_001267550.2(TTN):c.76088G>A (p.Arg25363His)
|
rs749274818
|
0.00003
|
NM_001267550.2(TTN):c.77093T>G (p.Val25698Gly)
|
rs759278736
|
0.00003
|
NM_001267550.2(TTN):c.7975C>G (p.Leu2659Val)
|
rs747894424
|
0.00003
|
NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val)
|
rs371498697
|
0.00003
|
NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg)
|
rs769162510
|
0.00003
|
NM_001267550.2(TTN):c.8902+1G>A
|
rs770392096
|
0.00003
|
NM_001267550.2(TTN):c.90845C>T (p.Thr30282Met)
|
rs756769026
|
0.00003
|
NM_001267550.2(TTN):c.93674T>C (p.Ile31225Thr)
|
rs727505175
|
0.00003
|
NM_001267550.2(TTN):c.95068G>A (p.Val31690Met)
|
rs727503543
|
0.00003
|
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile)
|
rs150930737
|
0.00003
|
NM_001267550.2(TTN):c.96008T>C (p.Ile32003Thr)
|
rs745962752
|
0.00003
|
NM_001267550.2(TTN):c.98252T>C (p.Ile32751Thr)
|
rs746586029
|
0.00003
|
NM_001267550.2(TTN):c.98524G>A (p.Ala32842Thr)
|
rs199647622
|
0.00003
|
NM_001267550.2(TTN):c.99518G>A (p.Cys33173Tyr)
|
rs761362832
|
0.00003
|
NM_001267550.2(TTN):c.99536T>C (p.Val33179Ala)
|
rs576759867
|
0.00003
|
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn)
|
rs148516831
|
0.00003
|
NM_001278116.2(L1CAM):c.3322+11G>A
|
rs1372534909
|
0.00003
|
NM_001282531.3(ADNP):c.2849A>G (p.His950Arg)
|
rs1282824691
|
0.00003
|
NM_001291303.3(FAT4):c.10940A>G (p.Asp3647Gly)
|
rs780015426
|
0.00003
|
NM_001365536.1(SCN9A):c.4629G>A (p.Met1543Ile)
|
rs200328637
|
0.00003
|
NM_001365999.1(SZT2):c.3466G>A (p.Gly1156Arg)
|
rs370691670
|
0.00003
|
NM_001365999.1(SZT2):c.4166+4A>G
|
rs184298720
|
0.00003
|
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val)
|
rs1050035768
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_001376.5(DYNC1H1):c.11460+4G>A
|
rs201518717
|
0.00003
|
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg)
|
rs758727391
|
0.00003
|
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys)
|
rs755441612
|
0.00003
|
NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys)
|
rs371214841
|
0.00003
|
NM_001378120.1(MBD5):c.1135A>G (p.Thr379Ala)
|
rs959566693
|
0.00003
|
NM_001378452.1(ITPR1):c.7272+15T>A
|
rs777868994
|
0.00003
|
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His)
|
rs45576434
|
0.00003
|
NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly)
|
rs754439156
|
0.00003
|
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr)
|
rs1356972872
|
0.00003
|
NM_001378454.1(ALMS1):c.3076G>C (p.Ala1026Pro)
|
rs201451396
|
0.00003
|
NM_001378454.1(ALMS1):c.3484A>G (p.Thr1162Ala)
|
rs763680884
|
0.00003
|
NM_001378454.1(ALMS1):c.6379C>T (p.Pro2127Ser)
|
rs771800459
|
0.00003
|
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu)
|
rs373985919
|
0.00003
|
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val)
|
rs1027248513
|
0.00003
|
NM_001378964.1(CDON):c.1741A>G (p.Ile581Val)
|
rs141782811
|
0.00003
|
NM_001379200.1(TBX1):c.164C>T (p.Pro55Leu)
|
rs1464455403
|
0.00003
|
NM_001379500.1(COL18A1):c.1221+12C>T
|
rs765348415
|
0.00003
|
NM_001382430.1(AKT1):c.362G>A (p.Arg121Gln)
|
rs1457484217
|
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_001384474.1(LOXHD1):c.6071C>T (p.Thr2024Met)
|
rs369043488
|
0.00003
|
NM_001384474.1(LOXHD1):c.723C>A (p.Asn241Lys)
|
rs1364819556
|
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_001386795.1(DTNA):c.68-7G>A
|
rs372126412
|
0.00003
|
NM_001457.4(FLNB):c.3792C>A (p.Asp1264Glu)
|
rs200622119
|
0.00003
|
NM_001458.5(FLNC):c.7823C>T (p.Thr2608Met)
|
rs1175931652
|
0.00003
|
NM_001556.3(IKBKB):c.2114+3A>G
|
rs56329631
|
0.00003
|
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn)
|
rs777832794
|
0.00003
|
NM_001673.5(ASNS):c.1570C>T (p.Arg524Cys)
|
rs373078034
|
0.00003
|
NM_001848.3(COL6A1):c.665G>A (p.Arg222His)
|
rs780638665
|
0.00003
|
NM_001927.4(DES):c.-6G>A
|
rs774967446
|
0.00003
|
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile)
|
rs200830807
|
0.00003
|
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr)
|
rs548046212
|
0.00003
|
NM_002047.4(GARS1):c.52C>A (p.Leu18Met)
|
rs368574634
|
0.00003
|
NM_002109.6(HARS1):c.797G>A (p.Arg266His)
|
rs765223763
|
0.00003
|
NM_002156.5(HSPD1):c.385G>A (p.Glu129Lys)
|
rs139436185
|
0.00003
|
NM_002185.5(IL7R):c.706+3A>G
|
rs200036151
|
0.00003
|
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys)
|
rs782354654
|
0.00003
|
NM_002230.4(JUP):c.1996G>A (p.Val666Met)
|
rs372369061
|
0.00003
|
NM_002471.4(MYH6):c.233A>G (p.Gln78Arg)
|
rs772216708
|
0.00003
|
NM_002471.4(MYH6):c.2984C>G (p.Thr995Ser)
|
rs753891816
|
0.00003
|
NM_002474.3(MYH11):c.2237C>G (p.Ala746Gly)
|
rs778651094
|
0.00003
|
NM_002474.3(MYH11):c.2659G>A (p.Glu887Lys)
|
rs201387564
|
0.00003
|
NM_002485.5(NBN):c.2226T>A (p.Asp742Glu)
|
rs767523514
|
0.00003
|
NM_002485.5(NBN):c.284A>G (p.Asp95Gly)
|
rs545276922
|
0.00003
|
NM_002633.3(PGM1):c.318C>G (p.Ile106Met)
|
rs781551165
|
0.00003
|
NM_002693.3(POLG):c.2977C>T (p.Arg993Cys)
|
rs551811489
|
0.00003
|
NM_002693.3(POLG):c.3383G>A (p.Arg1128His)
|
rs1405268319
|
0.00003
|
NM_002734.5(PRKAR1A):c.756A>C (p.Lys252Asn)
|
rs1242606073
|
0.00003
|
NM_002755.4(MAP2K1):c.901G>A (p.Gly301Arg)
|
rs773890369
|
0.00003
|
NM_002769.5(PRSS1):c.200+10G>T
|
rs200217253
|
0.00003
|
NM_002769.5(PRSS1):c.200+18G>A
|
rs778658500
|
0.00003
|
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser)
|
rs188854022
|
0.00003
|
NM_002834.5(PTPN11):c.1642T>C (p.Ser548Pro)
|
rs1057517907
|
0.00003
|
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr)
|
rs397507528
|
0.00003
|
NM_002878.4(RAD51D):c.208G>A (p.Asp70Asn)
|
rs142189122
|
0.00003
|
NM_002878.4(RAD51D):c.481-8C>T
|
rs762247126
|
0.00003
|
NM_002878.4(RAD51D):c.53A>G (p.Gln18Arg)
|
rs546225564
|
0.00003
|
NM_002878.4(RAD51D):c.878C>T (p.Ala293Val)
|
rs769732230
|
0.00003
|
NM_002878.4(RAD51D):c.911G>A (p.Gly304Asp)
|
rs200615280
|
0.00003
|
NM_002880.4(RAF1):c.1109-17G>C
|
rs770431112
|
0.00003
|
NM_002880.4(RAF1):c.1921A>G (p.Thr641Ala)
|
rs1183812590
|
0.00003
|
NM_003042.4(SLC6A1):c.1559C>T (p.Thr520Met)
|
rs372892801
|
0.00003
|
NM_003042.4(SLC6A1):c.582G>A (p.Glu194=)
|
rs372085480
|
0.00003
|
NM_003239.5(TGFB3):c.797G>A (p.Arg266His)
|
rs142069844
|
0.00003
|
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp)
|
rs757774610
|
0.00003
|
NM_003383.5(VLDLR):c.2429T>C (p.Met810Thr)
|
rs561039600
|
0.00003
|
NM_003611.3(OFD1):c.324G>A (p.Met108Ile)
|
rs763219658
|
0.00003
|
NM_003659.4(AGPS):c.1855+6C>A
|
rs772552134
|
0.00003
|
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)
|
rs28931592
|
0.00003
|
NM_004004.6(GJB2):c.488T>C (p.Met163Thr)
|
rs1273330603
|
0.00003
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
NM_004006.3(DMD):c.1586T>C (p.Leu529Ser)
|
rs889238270
|
0.00003
|
NM_004092.4(ECHS1):c.8C>T (p.Ala3Val)
|
rs372408822
|
0.00003
|
NM_004100.5(EYA4):c.824C>G (p.Ala275Gly)
|
rs748654006
|
0.00003
|
NM_004260.4(RECQL4):c.962G>A (p.Gly321Glu)
|
rs1220650736
|
0.00003
|
NM_004281.4(BAG3):c.961C>T (p.Pro321Ser)
|
rs376832654
|
0.00003
|
NM_004329.3(BMPR1A):c.1420G>C (p.Val474Leu)
|
rs567733221
|
0.00003
|
NM_004360.5(CDH1):c.1318A>G (p.Lys440Glu)
|
rs778212100
|
0.00003
|
NM_004360.5(CDH1):c.2204C>T (p.Ala735Val)
|
rs587782464
|
0.00003
|
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys)
|
rs769076258
|
0.00003
|
NM_004360.5(CDH1):c.688-4T>C
|
rs781633588
|
0.00003
|
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu)
|
rs369025518
|
0.00003
|
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys)
|
rs141805096
|
0.00003
|
NM_004453.4(ETFDH):c.1503T>G (p.Asp501Glu)
|
rs752947878
|
0.00003
|
NM_004519.4(KCNQ3):c.2443G>T (p.Asp815Tyr)
|
rs530506549
|
0.00003
|
NM_004553.6(NDUFS6):c.247C>T (p.Arg83Trp)
|
rs863224110
|
0.00003
|
NM_004614.5(TK2):c.124+6G>C
|
rs772063515
|
0.00003
|
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)
|
rs143649022
|
0.00003
|
NM_004655.4(AXIN2):c.2021C>T (p.Pro674Leu)
|
rs1341498392
|
0.00003
|
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp)
|
rs748955220
|
0.00003
|
NM_005045.4(RELN):c.2176T>A (p.Phe726Ile)
|
rs200007424
|
0.00003
|
NM_005045.4(RELN):c.4640G>A (p.Arg1547Gln)
|
rs774277969
|
0.00003
|
NM_005045.4(RELN):c.7147G>A (p.Ala2383Thr)
|
rs978248682
|
0.00003
|
NM_005138.3(SCO2):c.281T>C (p.Leu94Pro)
|
rs138294250
|
0.00003
|
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu)
|
rs373989524
|
0.00003
|
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His)
|
rs111385795
|
0.00003
|
NM_005359.6(SMAD4):c.956-3T>C
|
rs748283001
|
0.00003
|
NM_005502.4(ABCA1):c.302+17G>T
|
rs367919230
|
0.00003
|
NM_005502.4(ABCA1):c.6184G>A (p.Gly2062Arg)
|
rs752051518
|
0.00003
|
NM_005502.4(ABCA1):c.725C>G (p.Thr242Arg)
|
rs775987152
|
0.00003
|
NM_005534.4(IFNGR2):c.436A>G (p.Ile146Val)
|
rs776581325
|
0.00003
|
NM_005591.4(MRE11):c.476T>C (p.Val159Ala)
|
rs140130291
|
0.00003
|
NM_005664.4(MKRN3):c.1034G>A (p.Arg345His)
|
rs375705600
|
0.00003
|
NM_005732.4(RAD50):c.*8C>T
|
rs374990431
|
0.00003
|
NM_005732.4(RAD50):c.1970-7A>C
|
rs370034340
|
0.00003
|
NM_005732.4(RAD50):c.2718+10T>G
|
rs765764447
|
0.00003
|
NM_005732.4(RAD50):c.785T>G (p.Leu262Arg)
|
rs201728859
|
0.00003
|
NM_005765.3(ATP6AP2):c.455G>A (p.Arg152His)
|
rs184634552
|
0.00003
|
NM_005901.6(SMAD2):c.784+7T>A
|
rs1429670443
|
0.00003
|
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val)
|
rs1317532064
|
0.00003
|
NM_005902.4(SMAD3):c.632C>T (p.Pro211Leu)
|
rs772510704
|
0.00003
|
NM_006231.4(POLE):c.4091G>A (p.Arg1364His)
|
rs369171111
|
0.00003
|
NM_006231.4(POLE):c.4112G>A (p.Arg1371Gln)
|
rs535074635
|
0.00003
|
NM_006231.4(POLE):c.5609G>A (p.Arg1870His)
|
rs758619238
|
0.00003
|
NM_006261.5(PROP1):c.550G>C (p.Ala184Pro)
|
rs746409513
|
0.00003
|
NM_006270.5(RRAS):c.573-4A>C
|
rs901398553
|
0.00003
|
NM_006308.3(HSPB3):c.437C>T (p.Pro146Leu)
|
rs376650697
|
0.00003
|
NM_006502.3(POLH):c.2009A>G (p.Asn670Ser)
|
rs377690160
|
0.00003
|
NM_006662.3(SRCAP):c.391C>G (p.Pro131Ala)
|
rs148079550
|
0.00003
|
NM_006662.3(SRCAP):c.7523C>T (p.Pro2508Leu)
|
rs201916514
|
0.00003
|
NM_006767.4(LZTR1):c.1591G>A (p.Asp531Asn)
|
rs138615487
|
0.00003
|
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)
|
rs1390048261
|
0.00003
|
NM_006767.4(LZTR1):c.989G>T (p.Ser330Ile)
|
rs376331457
|
0.00003
|
NM_006790.3(MYOT):c.182A>C (p.His61Pro)
|
rs372276337
|
0.00003
|
NM_006796.3(AFG3L2):c.292+2T>C
|
rs779805236
|
0.00003
|
NM_006912.6(RIT1):c.506A>G (p.Tyr169Cys)
|
rs763208084
|
0.00003
|
NM_006915.3(RP2):c.49C>T (p.Pro17Ser)
|
rs782103396
|
0.00003
|
NM_006939.4(SOS2):c.1282G>A (p.Asp428Asn)
|
rs146283711
|
0.00003
|
NM_006939.4(SOS2):c.1417C>T (p.His473Tyr)
|
rs756637706
|
0.00003
|
NM_006939.4(SOS2):c.3497T>C (p.Met1166Thr)
|
rs764483791
|
0.00003
|
NM_006939.4(SOS2):c.3814C>T (p.Arg1272Cys)
|
rs1005498417
|
0.00003
|
NM_006949.4(STXBP2):c.1026+3G>A
|
rs759183489
|
0.00003
|
NM_007078.3(LDB3):c.905T>C (p.Ile302Thr)
|
rs777489502
|
0.00003
|
NM_007103.4(NDUFV1):c.331A>G (p.Lys111Glu)
|
rs369089940
|
0.00003
|
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly)
|
rs560973106
|
0.00003
|
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro)
|
rs587781960
|
0.00003
|
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu)
|
rs587782541
|
0.00003
|
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp)
|
rs533475838
|
0.00003
|
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys)
|
rs149501505
|
0.00003
|
NM_007194.4(CHEK2):c.953G>A (p.Arg318His)
|
rs143611747
|
0.00003
|
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile)
|
rs80357273
|
0.00003
|
NM_007294.4(BRCA1):c.179A>G (p.Gln60Arg)
|
rs373655067
|
0.00003
|
NM_007294.4(BRCA1):c.1881C>G (p.Val627=)
|
rs80356838
|
0.00003
|
NM_007294.4(BRCA1):c.2299A>G (p.Ser767Gly)
|
rs80357194
|
0.00003
|
NM_007294.4(BRCA1):c.2758G>T (p.Val920Leu)
|
rs80357361
|
0.00003
|
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser)
|
rs80356919
|
0.00003
|
NM_007294.4(BRCA1):c.398G>A (p.Arg133His)
|
rs80357357
|
0.00003
|
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg)
|
rs80357079
|
0.00003
|
NM_007294.4(BRCA1):c.457A>C (p.Ser153Arg)
|
rs28897674
|
0.00003
|
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu)
|
rs80357012
|
0.00003
|
NM_012452.3(TNFRSF13B):c.61+67del
|
rs1423111679
|
0.00003
|
NM_014026.6(DCPS):c.865G>A (p.Gly289Ser)
|
rs188923397
|
0.00003
|
NM_014049.5(ACAD9):c.1298G>A (p.Arg433Gln)
|
rs781156571
|
0.00003
|
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys)
|
rs1057523761
|
0.00003
|
NM_014141.6(CNTNAP2):c.3798C>T (p.Gly1266=)
|
rs1483110052
|
0.00003
|
NM_014141.6(CNTNAP2):c.3950A>G (p.Asn1317Ser)
|
rs148611916
|
0.00003
|
NM_014141.6(CNTNAP2):c.416A>G (p.Asn139Ser)
|
rs370517200
|
0.00003
|
NM_014159.7(SETD2):c.7660G>A (p.Val2554Ile)
|
rs768564000
|
0.00003
|
NM_014336.5(AIPL1):c.112C>T (p.Arg38Cys)
|
rs200899521
|
0.00003
|
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met)
|
rs769260277
|
0.00003
|
NM_014625.4(NPHS2):c.872G>A (p.Arg291Gln)
|
rs751767084
|
0.00003
|
NM_014797.3(ZBTB24):c.1235A>G (p.His412Arg)
|
rs548726702
|
0.00003
|
NM_014797.3(ZBTB24):c.464A>G (p.Asn155Ser)
|
rs764146606
|
0.00003
|
NM_014844.5(TECPR2):c.3868G>A (p.Val1290Met)
|
rs759184941
|
0.00003
|
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)
|
rs561190371
|
0.00003
|
NM_015046.7(SETX):c.503G>A (p.Arg168Gln)
|
rs772017103
|
0.00003
|
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu)
|
rs747214324
|
0.00003
|
NM_015702.3(MMADHC):c.757G>A (p.Gly253Arg)
|
rs766533747
|
0.00003
|
NM_016203.4(PRKAG2):c.1584+8G>A
|
rs762649633
|
0.00003
|
NM_016343.4(CENPF):c.4892C>T (p.Thr1631Met)
|
rs769388025
|
0.00003
|
NM_016589.4(TIMMDC1):c.524C>T (p.Thr175Met)
|
rs370482859
|
0.00003
|
NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter)
|
rs773969315
|
0.00003
|
NM_017635.5(KMT5B):c.1922C>T (p.Ala641Val)
|
rs575248505
|
0.00003
|
NM_017721.5(CC2D1A):c.380C>T (p.Pro127Leu)
|
rs750108401
|
0.00003
|
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)
|
rs886285802
|
0.00003
|
NM_018706.7(DHTKD1):c.2318C>T (p.Pro773Leu)
|
rs200355418
|
0.00003
|
NM_020117.11(LARS1):c.1183G>A (p.Asp395Asn)
|
rs762386770
|
0.00003
|
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro)
|
rs757362635
|
0.00003
|
NM_020207.7(ERCC6L2):c.3107A>G (p.Gln1036Arg)
|
rs376412922
|
0.00003
|
NM_020297.4(ABCC9):c.1063G>T (p.Ala355Ser)
|
rs145455570
|
0.00003
|
NM_020822.3(KCNT1):c.3671C>T (p.Ser1224Phe)
|
rs769083534
|
0.00003
|
NM_021008.4(DEAF1):c.1348C>T (p.Pro450Ser)
|
rs374222357
|
0.00003
|
NM_021830.5(TWNK):c.1802G>A (p.Arg601Gln)
|
rs141315771
|
0.00003
|
NM_021830.5(TWNK):c.1925A>G (p.Lys642Arg)
|
rs748463127
|
0.00003
|
NM_021939.4(FKBP10):c.476G>A (p.Ser159Asn)
|
rs1157950850
|
0.00003
|
NM_021999.5(ITM2B):c.55G>A (p.Glu19Lys)
|
rs772385941
|
0.00003
|
NM_022114.4(PRDM16):c.3357G>C (p.Glu1119Asp)
|
rs756442796
|
0.00003
|
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)
|
rs368496658
|
0.00003
|
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)
|
rs756231829
|
0.00003
|
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys)
|
rs370922401
|
0.00003
|
NM_022124.6(CDH23):c.8878G>A (p.Val2960Ile)
|
rs748152139
|
0.00003
|
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln)
|
rs111033467
|
0.00003
|
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp)
|
rs375907609
|
0.00003
|
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val)
|
rs760420191
|
0.00003
|
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys)
|
rs771006240
|
0.00003
|
NM_024105.4(ALG12):c.671C>T (p.Thr224Met)
|
rs755892540
|
0.00003
|
NM_024301.5(FKRP):c.395G>C (p.Gly132Ala)
|
rs755588907
|
0.00003
|
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys)
|
rs140347235
|
0.00003
|
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln)
|
rs757651177
|
0.00003
|
NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His)
|
rs201996575
|
0.00003
|
NM_024411.5(PDYN):c.-19-1G>C
|
rs769835663
|
0.00003
|
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn)
|
rs140856220
|
0.00003
|
NM_024675.4(PALB2):c.108+12G>A
|
rs558824045
|
0.00003
|
NM_024675.4(PALB2):c.110G>A (p.Arg37His)
|
rs202194596
|
0.00003
|
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser)
|
rs367578415
|
0.00003
|
NM_024675.4(PALB2):c.1405T>C (p.Cys469Arg)
|
rs1060502789
|
0.00003
|
NM_024675.4(PALB2):c.1647C>A (p.His549Gln)
|
rs747842085
|
0.00003
|
NM_024675.4(PALB2):c.1766C>T (p.Thr589Met)
|
rs773340677
|
0.00003
|
NM_024675.4(PALB2):c.1846G>C (p.Asp616His)
|
rs786201907
|
0.00003
|
NM_024675.4(PALB2):c.1882_1890del (p.Lys628_Cys630del)
|
rs587778583
|
0.00003
|
NM_024675.4(PALB2):c.2057G>A (p.Arg686Lys)
|
rs267604470
|
0.00003
|
NM_024675.4(PALB2):c.20A>G (p.Lys7Arg)
|
rs947155109
|
0.00003
|
NM_024675.4(PALB2):c.226A>G (p.Ile76Val)
|
rs541028076
|
0.00003
|
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)
|
rs587780214
|
0.00003
|
NM_024675.4(PALB2):c.2997-9T>C
|
rs765733708
|
0.00003
|
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)
|
rs138273800
|
0.00003
|
NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser)
|
rs730881878
|
0.00003
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
NM_025000.4(DCAF17):c.1468A>G (p.Ile490Val)
|
rs140422102
|
0.00003
|
NM_025074.7(FRAS1):c.7768C>T (p.Arg2590Cys)
|
rs368735572
|
0.00003
|
NM_025265.4(TSEN2):c.241T>G (p.Ser81Ala)
|
rs774798241
|
0.00003
|
NM_030662.4(MAP2K2):c.581-5T>C
|
rs757662989
|
0.00003
|
NM_030662.4(MAP2K2):c.581-9C>T
|
rs539611844
|
0.00003
|
NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile)
|
rs373375540
|
0.00003
|
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)
|
rs4988349
|
0.00003
|
NM_032043.3(BRIP1):c.1660C>G (p.Gln554Glu)
|
rs777217004
|
0.00003
|
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)
|
rs200960251
|
0.00003
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
NM_032043.3(BRIP1):c.2492+8G>C
|
rs772953115
|
0.00003
|
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr)
|
rs757668121
|
0.00003
|
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)
|
rs761405340
|
0.00003
|
NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter)
|
rs542698396
|
0.00003
|
NM_032119.4(ADGRV1):c.18601A>C (p.Asn6201His)
|
rs201299038
|
0.00003
|
NM_032119.4(ADGRV1):c.2039A>G (p.Asp680Gly)
|
rs547076322
|
0.00003
|
NM_032444.4(SLX4):c.3799C>T (p.Arg1267Cys)
|
rs201422743
|
0.00003
|
NM_032444.4(SLX4):c.485C>T (p.Thr162Met)
|
rs140876043
|
0.00003
|
NM_032578.4(MYPN):c.1013G>A (p.Arg338His)
|
rs149852773
|
0.00003
|
NM_032588.4(TRIM63):c.390C>G (p.Ile130Met)
|
rs377334933
|
0.00003
|
NM_033056.4(PCDH15):c.4976A>G (p.Asp1659Gly)
|
rs754402677
|
0.00003
|
NM_033337.3(CAV3):c.305C>T (p.Ala102Val)
|
rs868638613
|
0.00003
|
NM_033629.6(TREX1):c.-26-1G>A
|
rs749323787
|
0.00003
|
NM_033641.4(COL4A6):c.2656G>A (p.Ala886Thr)
|
rs138246637
|
0.00003
|
NM_052859.4(RFT1):c.200G>A (p.Arg67His)
|
rs753527390
|
0.00003
|
NM_053025.4(MYLK):c.169C>T (p.Arg57Trp)
|
rs776636237
|
0.00003
|
NM_053025.4(MYLK):c.4838-3C>T
|
rs776825316
|
0.00003
|
NM_053025.4(MYLK):c.5447G>A (p.Arg1816His)
|
rs140636141
|
0.00003
|
NM_053025.4(MYLK):c.559C>T (p.Arg187Trp)
|
rs372482276
|
0.00003
|
NM_053025.4(MYLK):c.754+16C>T
|
rs377397996
|
0.00003
|
NM_054012.4(ASS1):c.298C>T (p.Arg100Cys)
|
rs370695114
|
0.00003
|
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)
|
rs587780253
|
0.00003
|
NM_058216.3(RAD51C):c.77A>T (p.Lys26Met)
|
rs746026526
|
0.00003
|
NM_080680.3(COL11A2):c.3138G>C (p.Glu1046Asp)
|
rs773329088
|
0.00003
|
NM_130837.3(OPA1):c.611-9A>G
|
rs372157755
|
0.00003
|
NM_133259.4(LRPPRC):c.124G>A (p.Ala42Thr)
|
rs752575254
|
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_138694.4(PKHD1):c.4039G>A (p.Val1347Met)
|
rs201087689
|
0.00003
|
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)
|
rs770494581
|
0.00003
|
NM_139027.6(ADAMTS13):c.1979G>A (p.Arg660Gln)
|
rs117943654
|
0.00003
|
NM_139076.3(ABRAXAS1):c.533G>T (p.Gly178Val)
|
rs773434048
|
0.00003
|
NM_139076.3(ABRAXAS1):c.890G>T (p.Cys297Phe)
|
rs377162113
|
0.00003
|
NM_139276.3(STAT3):c.1049+9T>G
|
rs374408588
|
0.00003
|
NM_144670.6(A2ML1):c.1387A>C (p.Lys463Gln)
|
rs764536586
|
0.00003
|
NM_144670.6(A2ML1):c.1833+10T>C
|
rs753086817
|
0.00003
|
NM_144670.6(A2ML1):c.3343C>T (p.Pro1115Ser)
|
rs372562512
|
0.00003
|
NM_144670.6(A2ML1):c.653A>G (p.Lys218Arg)
|
rs1253780933
|
0.00003
|
NM_144773.4(PROKR2):c.403C>T (p.Arg135Cys)
|
rs149396342
|
0.00003
|
NM_144773.4(PROKR2):c.629A>G (p.Gln210Arg)
|
rs74315417
|
0.00003
|
NM_152594.3(SPRED1):c.1202G>T (p.Cys401Phe)
|
rs779058019
|
0.00003
|
NM_152594.3(SPRED1):c.583-9G>T
|
rs1421813002
|
0.00003
|
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)
|
rs878855233
|
0.00003
|
NM_170707.4(LMNA):c.1756G>A (p.Val586Met)
|
rs758048062
|
0.00003
|
NM_172107.4(KCNQ2):c.2260G>A (p.Ala754Thr)
|
rs773822234
|
0.00003
|
NM_172250.3(MMAA):c.587G>A (p.Arg196Gln)
|
rs144389160
|
0.00003
|
NM_173354.5(SIK1):c.2120C>T (p.Pro707Leu)
|
rs988303758
|
0.00003
|
NM_173660.5(DOK7):c.638G>A (p.Arg213Gln)
|
rs371408752
|
0.00003
|
NM_174934.4(SCN4B):c.464-12C>T
|
rs375056921
|
0.00003
|
NM_174936.4(PCSK9):c.278G>A (p.Arg93His)
|
rs763855534
|
0.00003
|
NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val)
|
rs774111430
|
0.00003
|
NM_181303.2(NLGN3):c.26C>T (p.Ser9Leu)
|
rs777601149
|
0.00003
|
NM_181332.3(NLGN4X):c.1144G>A (p.Gly382Ser)
|
rs760969834
|
0.00003
|
NM_182914.3(SYNE2):c.8474G>A (p.Arg2825Lys)
|
rs748757670
|
0.00003
|
NM_198252.3(GSN):c.753+1G>A
|
rs369830648
|
0.00003
|
NM_199242.3(UNC13D):c.3134C>T (p.Thr1045Met)
|
rs201146973
|
0.00003
|
NM_201384.3(PLEC):c.10802G>A (p.Arg3601Gln)
|
rs369570610
|
0.00003
|
NM_201548.5(CERKL):c.1159+3G>A
|
rs373597465
|
0.00003
|
NM_203447.4(DOCK8):c.3454G>A (p.Glu1152Lys)
|
rs1438287343
|
0.00003
|
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln)
|
rs375978706
|
0.00003
|
NM_206933.4(USH2A):c.13832C>T (p.Ala4611Val)
|
rs376077079
|
0.00003
|
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val)
|
rs527689947
|
0.00003
|
NM_206937.2(LIG4):c.2584C>T (p.His862Tyr)
|
rs201176444
|
0.00003
|
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)
|
rs758111285
|
0.00002
|
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu)
|
rs1356652354
|
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_000019.4(ACAT1):c.968T>C (p.Ile323Thr)
|
rs755806238
|
0.00002
|
NM_000038.6(APC):c.1589T>C (p.Val530Ala)
|
rs202199891
|
0.00002
|
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)
|
rs756859993
|
0.00002
|
NM_000038.6(APC):c.2222A>G (p.Asn741Ser)
|
rs150209825
|
0.00002
|
NM_000038.6(APC):c.2444A>C (p.Asn815Thr)
|
rs762990578
|
0.00002
|
NM_000038.6(APC):c.2764C>T (p.Leu922Phe)
|
rs150543576
|
0.00002
|
NM_000038.6(APC):c.2780C>G (p.Ala927Gly)
|
rs587781500
|
0.00002
|
NM_000038.6(APC):c.284C>T (p.Ser95Phe)
|
rs146221748
|
0.00002
|
NM_000038.6(APC):c.5060G>A (p.Arg1687Gln)
|
rs779068685
|
0.00002
|
NM_000038.6(APC):c.5308A>G (p.Lys1770Glu)
|
rs551183536
|
0.00002
|
NM_000038.6(APC):c.5957C>T (p.Pro1986Leu)
|
rs756266694
|
0.00002
|
NM_000038.6(APC):c.6487A>C (p.Lys2163Gln)
|
rs759728732
|
0.00002
|
NM_000038.6(APC):c.6512G>A (p.Gly2171Glu)
|
rs748745776
|
0.00002
|
NM_000038.6(APC):c.6588A>C (p.Lys2196Asn)
|
rs961108427
|
0.00002
|
NM_000038.6(APC):c.6670A>G (p.Ile2224Val)
|
rs374597207
|
0.00002
|
NM_000038.6(APC):c.6958C>T (p.Pro2320Ser)
|
rs587778036
|
0.00002
|
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser)
|
rs377308875
|
0.00002
|
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly)
|
rs767286063
|
0.00002
|
NM_000038.6(APC):c.8141G>A (p.Arg2714His)
|
rs747362422
|
0.00002
|
NM_000039.3(APOA1):c.41C>T (p.Thr14Met)
|
rs778560581
|
0.00002
|
NM_000046.5(ARSB):c.305G>A (p.Arg102His)
|
rs759356342
|
0.00002
|
NM_000048.4(ASL):c.1267G>A (p.Asp423Asn)
|
rs778321544
|
0.00002
|
NM_000048.4(ASL):c.62T>C (p.Met21Thr)
|
rs774392615
|
0.00002
|
NM_000051.4(ATM):c.1271C>A (p.Pro424His)
|
rs147472613
|
0.00002
|
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln)
|
rs760676955
|
0.00002
|
NM_000051.4(ATM):c.175G>T (p.Ala59Ser)
|
rs752527112
|
0.00002
|
NM_000051.4(ATM):c.1792A>G (p.Ile598Val)
|
rs730881343
|
0.00002
|
NM_000051.4(ATM):c.1855A>C (p.Asn619His)
|
rs140882609
|
0.00002
|
NM_000051.4(ATM):c.2036G>T (p.Gly679Val)
|
rs544123518
|
0.00002
|
NM_000051.4(ATM):c.2159G>A (p.Arg720His)
|
rs55830714
|
0.00002
|
NM_000051.4(ATM):c.2258T>C (p.Met753Thr)
|
rs587781607
|
0.00002
|
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe)
|
rs876660498
|
0.00002
|
NM_000051.4(ATM):c.3402+3A>G
|
rs786203688
|
0.00002
|
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)
|
rs587778073
|
0.00002
|
NM_000051.4(ATM):c.3743A>G (p.Tyr1248Cys)
|
rs766226370
|
0.00002
|
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys)
|
rs778123057
|
0.00002
|
NM_000051.4(ATM):c.4437-9C>T
|
rs766003804
|
0.00002
|
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys)
|
rs730881393
|
0.00002
|
NM_000051.4(ATM):c.5005+8A>G
|
rs1204604787
|
0.00002
|
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)
|
rs375131360
|
0.00002
|
NM_000051.4(ATM):c.518G>T (p.Arg173Met)
|
rs372694758
|
0.00002
|
NM_000051.4(ATM):c.5418A>G (p.Ile1806Met)
|
rs763020528
|
0.00002
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
NM_000051.4(ATM):c.6163A>G (p.Ile2055Val)
|
rs758038580
|
0.00002
|
NM_000051.4(ATM):c.6823A>G (p.Ile2275Val)
|
rs587779857
|
0.00002
|
NM_000051.4(ATM):c.7240C>A (p.Gln2414Lys)
|
rs863224462
|
0.00002
|
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys)
|
rs755009196
|
0.00002
|
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile)
|
rs587779870
|
0.00002
|
NM_000051.4(ATM):c.8187A>C (p.Gln2729His)
|
rs587781946
|
0.00002
|
NM_000051.4(ATM):c.8450A>G (p.Tyr2817Cys)
|
rs747764678
|
0.00002
|
NM_000052.7(ATP7A):c.4227-1G>A
|
rs782283173
|
0.00002
|
NM_000053.4(ATP7B):c.1869+20A>G
|
rs566255910
|
0.00002
|
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala)
|
rs777791532
|
0.00002
|
NM_000053.4(ATP7B):c.3749C>G (p.Ala1250Gly)
|
rs372042739
|
0.00002
|
NM_000055.4(BCHE):c.459A>T (p.Leu153Phe)
|
rs747598704
|
0.00002
|
NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe)
|
rs374569385
|
0.00002
|
NM_000057.4(BLM):c.2171T>C (p.Val724Ala)
|
rs750687788
|
0.00002
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
rs80358390
|
0.00002
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
rs55853199
|
0.00002
|
NM_000059.4(BRCA2):c.10240A>G (p.Thr3414Ala)
|
rs80358405
|
0.00002
|
NM_000059.4(BRCA2):c.1376T>C (p.Leu459Ser)
|
rs587781799
|
0.00002
|
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala)
|
rs750341436
|
0.00002
|
NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys)
|
rs397507603
|
0.00002
|
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser)
|
rs373400041
|
0.00002
|
NM_000059.4(BRCA2):c.1814T>C (p.Ile605Thr)
|
rs80358468
|
0.00002
|
NM_000059.4(BRCA2):c.1817C>T (p.Pro606Leu)
|
rs80358469
|
0.00002
|
NM_000059.4(BRCA2):c.1993A>G (p.Thr665Ala)
|
rs144192844
|
0.00002
|
NM_000059.4(BRCA2):c.229A>G (p.Thr77Ala)
|
rs80358500
|
0.00002
|
NM_000059.4(BRCA2):c.2389A>G (p.Lys797Glu)
|
rs587782737
|
0.00002
|
NM_000059.4(BRCA2):c.266C>T (p.Pro89Leu)
|
rs748609599
|
0.00002
|
NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly)
|
rs80358559
|
0.00002
|
NM_000059.4(BRCA2):c.3208G>T (p.Ala1070Ser)
|
rs372433502
|
0.00002
|
NM_000059.4(BRCA2):c.3256A>G (p.Ile1086Val)
|
rs80358571
|
0.00002
|
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile)
|
rs80358575
|
0.00002
|
NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro)
|
rs80358577
|
0.00002
|
NM_000059.4(BRCA2):c.3479G>A (p.Arg1160Lys)
|
rs183920365
|
0.00002
|
NM_000059.4(BRCA2):c.3494A>G (p.His1165Arg)
|
rs587782201
|
0.00002
|
NM_000059.4(BRCA2):c.353G>A (p.Arg118His)
|
rs80358603
|
0.00002
|
NM_000059.4(BRCA2):c.3697G>A (p.Ala1233Thr)
|
rs80358613
|
0.00002
|
NM_000059.4(BRCA2):c.3698C>T (p.Ala1233Val)
|
rs745700206
|
0.00002
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val)
|
rs398122776
|
0.00002
|
NM_000059.4(BRCA2):c.4429A>G (p.Ile1477Val)
|
rs1159807733
|
0.00002
|
NM_000059.4(BRCA2):c.4819A>G (p.Ile1607Val)
|
rs200582465
|
0.00002
|
NM_000059.4(BRCA2):c.4854T>A (p.Asp1618Glu)
|
rs80358708
|
0.00002
|
NM_000059.4(BRCA2):c.5096A>G (p.Asp1699Gly)
|
rs80358732
|
0.00002
|
NM_000059.4(BRCA2):c.5113A>G (p.Ile1705Val)
|
rs80358737
|
0.00002
|
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala)
|
rs80358742
|
0.00002
|
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys)
|
rs587776466
|
0.00002
|
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile)
|
rs80358766
|
0.00002
|
NM_000059.4(BRCA2):c.5660C>T (p.Thr1887Met)
|
rs397507795
|
0.00002
|
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala)
|
rs41293499
|
0.00002
|
NM_000059.4(BRCA2):c.5836T>C (p.Ser1946Pro)
|
rs80358811
|
0.00002
|
NM_000059.4(BRCA2):c.5839C>T (p.Pro1947Ser)
|
rs80358812
|
0.00002
|
NM_000059.4(BRCA2):c.5893C>T (p.Leu1965Phe)
|
rs398122542
|
0.00002
|
NM_000059.4(BRCA2):c.5897A>G (p.His1966Arg)
|
rs80358823
|
0.00002
|
NM_000059.4(BRCA2):c.5921C>T (p.Thr1974Ile)
|
rs55730620
|
0.00002
|
NM_000059.4(BRCA2):c.5937C>G (p.Ser1979Arg)
|
rs28897737
|
0.00002
|
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr)
|
rs587781760
|
0.00002
|
NM_000059.4(BRCA2):c.6098T>A (p.Ile2033Lys)
|
rs398122548
|
0.00002
|
NM_000059.4(BRCA2):c.6125A>G (p.Gln2042Arg)
|
rs80358852
|
0.00002
|
NM_000059.4(BRCA2):c.6176G>A (p.Ser2059Asn)
|
rs587780657
|
0.00002
|
NM_000059.4(BRCA2):c.6550C>G (p.Gln2184Glu)
|
rs80358887
|
0.00002
|
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys)
|
rs397507875
|
0.00002
|
NM_000059.4(BRCA2):c.680C>T (p.Ala227Val)
|
rs149565664
|
0.00002
|
NM_000059.4(BRCA2):c.6848C>A (p.Pro2283His)
|
rs80358910
|
0.00002
|
NM_000059.4(BRCA2):c.7021C>T (p.Arg2341Cys)
|
rs41293505
|
0.00002
|
NM_000059.4(BRCA2):c.7418G>A (p.Cys2473Tyr)
|
rs55924966
|
0.00002
|
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile)
|
rs587782191
|
0.00002
|
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)
|
rs80358980
|
0.00002
|
NM_000059.4(BRCA2):c.7618C>A (p.Leu2540Met)
|
rs397507390
|
0.00002
|
NM_000059.4(BRCA2):c.7643A>G (p.His2548Arg)
|
rs80358992
|
0.00002
|
NM_000059.4(BRCA2):c.7684T>C (p.Phe2562Leu)
|
rs80358995
|
0.00002
|
NM_000059.4(BRCA2):c.7822C>G (p.Pro2608Ala)
|
rs879255308
|
0.00002
|
NM_000059.4(BRCA2):c.8002A>G (p.Arg2668Gly)
|
rs276174900
|
0.00002
|
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu)
|
rs80359036
|
0.00002
|
NM_000059.4(BRCA2):c.8331+3A>C
|
rs876659382
|
0.00002
|
NM_000059.4(BRCA2):c.8488-10A>G
|
rs749196803
|
0.00002
|
NM_000059.4(BRCA2):c.8737G>C (p.Asp2913His)
|
rs144322424
|
0.00002
|
NM_000059.4(BRCA2):c.8739C>G (p.Asp2913Glu)
|
rs786201996
|
0.00002
|
NM_000059.4(BRCA2):c.8756G>T (p.Gly2919Val)
|
rs80359131
|
0.00002
|
NM_000059.4(BRCA2):c.8942A>G (p.Glu2981Gly)
|
rs398122716
|
0.00002
|
NM_000059.4(BRCA2):c.9098C>T (p.Thr3033Ile)
|
rs431825374
|
0.00002
|
NM_000059.4(BRCA2):c.9455A>G (p.Glu3152Gly)
|
rs80359219
|
0.00002
|
NM_000059.4(BRCA2):c.9548T>C (p.Ile3183Thr)
|
rs755201475
|
0.00002
|
NM_000059.4(BRCA2):c.9649-9T>G
|
rs765352313
|
0.00002
|
NM_000059.4(BRCA2):c.9934A>G (p.Ile3312Val)
|
rs80359254
|
0.00002
|
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro)
|
rs758795961
|
0.00002
|
NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln)
|
rs373407950
|
0.00002
|
NM_000077.5(CDKN2A):c.151G>A (p.Val51Ile)
|
rs762630679
|
0.00002
|
NM_000077.5(CDKN2A):c.400G>C (p.Ala134Pro)
|
rs372599739
|
0.00002
|
NM_000077.5(CDKN2A):c.459C>T (p.Asp153=)
|
rs778871932
|
0.00002
|
NM_000080.4(CHRNE):c.1466C>T (p.Pro489Leu)
|
rs575920043
|
0.00002
|
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)
|
rs372635387
|
0.00002
|
NM_000089.4(COL1A2):c.2933G>A (p.Arg978His)
|
rs559605075
|
0.00002
|
NM_000090.4(COL3A1):c.1885A>G (p.Lys629Glu)
|
rs1466862530
|
0.00002
|
NM_000090.4(COL3A1):c.3145C>A (p.Pro1049Thr)
|
rs775562650
|
0.00002
|
NM_000090.4(COL3A1):c.3653C>T (p.Pro1218Leu)
|
rs763901831
|
0.00002
|
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)
|
rs534253913
|
0.00002
|
NM_000091.5(COL4A3):c.4027+10C>T
|
rs778737711
|
0.00002
|
NM_000093.5(COL5A1):c.5371-8T>C
|
rs1352923765
|
0.00002
|
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His)
|
rs147040026
|
0.00002
|
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His)
|
rs756258247
|
0.00002
|
NM_000094.4(COL7A1):c.7882C>T (p.Arg2628Trp)
|
rs376588113
|
0.00002
|
NM_000096.4(CP):c.229G>C (p.Asp77His)
|
rs200683433
|
0.00002
|
NM_000096.4(CP):c.583G>A (p.Gly195Arg)
|
rs750451693
|
0.00002
|
NM_000104.4(CYP1B1):c.1198C>T (p.Pro400Ser)
|
rs768047511
|
0.00002
|
NM_000110.4(DPYD):c.1108A>G (p.Ile370Val)
|
rs72549305
|
0.00002
|
NM_000110.4(DPYD):c.545T>A (p.Met182Lys)
|
rs779728902
|
0.00002
|
NM_000112.4(SLC26A2):c.472C>T (p.Arg158Cys)
|
rs762787339
|
0.00002
|
NM_000122.2(ERCC3):c.351A>T (p.Lys117Asn)
|
rs762430357
|
0.00002
|
NM_000124.4(ERCC6):c.2230C>T (p.Arg744Trp)
|
rs368188837
|
0.00002
|
NM_000126.4(ETFA):c.494T>C (p.Val165Ala)
|
rs749455172
|
0.00002
|
NM_000128.4(F11):c.683G>A (p.Arg228Gln)
|
rs281875246
|
0.00002
|
NM_000132.4(F8):c.1030A>C (p.Lys344Gln)
|
rs782395704
|
0.00002
|
NM_000136.3(FANCC):c.233C>A (p.Pro78His)
|
rs138722298
|
0.00002
|
NM_000136.3(FANCC):c.565C>G (p.Pro189Ala)
|
rs377620735
|
0.00002
|
NM_000136.3(FANCC):c.770T>C (p.Leu257Pro)
|
rs1060502515
|
0.00002
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu)
|
rs764827921
|
0.00002
|
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)
|
rs778258207
|
0.00002
|
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln)
|
rs794728328
|
0.00002
|
NM_000138.5(FBN1):c.2678-14G>A
|
rs369475895
|
0.00002
|
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
|
rs148076256
|
0.00002
|
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His)
|
rs137854456
|
0.00002
|
NM_000138.5(FBN1):c.4336+4A>C
|
rs764099050
|
0.00002
|
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu)
|
rs368650399
|
0.00002
|
NM_000138.5(FBN1):c.5918-12T>G
|
rs751115639
|
0.00002
|
NM_000138.5(FBN1):c.62C>T (p.Thr21Met)
|
rs1489806847
|
0.00002
|
NM_000138.5(FBN1):c.6732G>A (p.Met2244Ile)
|
rs780960909
|
0.00002
|
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn)
|
rs775558051
|
0.00002
|
NM_000138.5(FBN1):c.7454-6T>C
|
rs1253572031
|
0.00002
|
NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn)
|
rs121913112
|
0.00002
|
NM_000152.5(GAA):c.1195-22C>T
|
rs1038744830
|
0.00002
|
NM_000152.5(GAA):c.868A>G (p.Asn290Asp)
|
rs552929702
|
0.00002
|
NM_000155.3(GALT):c.-392A>T
|
rs924095458
|
0.00002
|
NM_000157.4(GBA1):c.247C>T (p.Arg83Cys)
|
rs1141812
|
0.00002
|
NM_000157.4(GBA1):c.941A>G (p.Asn314Ser)
|
rs535896234
|
0.00002
|
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)
|
rs1264734195
|
0.00002
|
NM_000162.5(GCK):c.394G>A (p.Asp132Asn)
|
rs762419802
|
0.00002
|
NM_000163.5(GHR):c.206C>T (p.Thr69Ile)
|
rs75028043
|
0.00002
|
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)
|
rs104894833
|
0.00002
|
NM_000179.3(MSH6):c.1732C>T (p.His578Tyr)
|
rs768854566
|
0.00002
|
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)
|
rs41295270
|
0.00002
|
NM_000179.3(MSH6):c.2168G>C (p.Gly723Ala)
|
rs759403696
|
0.00002
|
NM_000179.3(MSH6):c.2511C>G (p.His837Gln)
|
rs587779925
|
0.00002
|
NM_000179.3(MSH6):c.2551A>G (p.Ser851Gly)
|
rs762352116
|
0.00002
|
NM_000179.3(MSH6):c.257C>T (p.Thr86Ile)
|
rs768444916
|
0.00002
|
NM_000179.3(MSH6):c.25A>G (p.Ser9Gly)
|
rs41294986
|
0.00002
|
NM_000179.3(MSH6):c.2624T>C (p.Met875Thr)
|
rs774774596
|
0.00002
|
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn)
|
rs730881798
|
0.00002
|
NM_000179.3(MSH6):c.2857G>A (p.Glu953Lys)
|
rs753034685
|
0.00002
|
NM_000179.3(MSH6):c.2950A>C (p.Asn984His)
|
rs146359682
|
0.00002
|
NM_000179.3(MSH6):c.3557G>A (p.Gly1186Asp)
|
rs587781690
|
0.00002
|
NM_000179.3(MSH6):c.3740C>G (p.Thr1247Ser)
|
rs786204182
|
0.00002
|
NM_000179.3(MSH6):c.3801+4T>C
|
rs758830540
|
0.00002
|
NM_000179.3(MSH6):c.3979A>C (p.Asn1327His)
|
rs756216566
|
0.00002
|
NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp)
|
rs786204130
|
0.00002
|
NM_000179.3(MSH6):c.728G>A (p.Arg243His)
|
rs370157832
|
0.00002
|
NM_000179.3(MSH6):c.94G>T (p.Gly32Cys)
|
rs776859837
|
0.00002
|
NM_000180.4(GUCY2D):c.1618C>T (p.Arg540Cys)
|
rs61749754
|
0.00002
|
NM_000181.4(GUSB):c.1790-2dup
|
rs764071830
|
0.00002
|
NM_000182.5(HADHA):c.677G>A (p.Gly226Glu)
|
rs143919136
|
0.00002
|
NM_000183.3(HADHB):c.362T>C (p.Leu121Pro)
|
rs773127211
|
0.00002
|
NM_000190.4(HMBS):c.67G>A (p.Val23Met)
|
rs776931683
|
0.00002
|
NM_000199.5(SGSH):c.683A>G (p.Asn228Ser)
|
rs771177142
|
0.00002
|
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val)
|
rs527336882
|
0.00002
|
NM_000203.5(IDUA):c.1349C>A (p.Pro450His)
|
rs895626490
|
0.00002
|
NM_000203.5(IDUA):c.1828+5G>A
|
rs565649151
|
0.00002
|
NM_000215.4(JAK3):c.1503G>T (p.Gln501His)
|
rs201283129
|
0.00002
|
NM_000215.4(JAK3):c.268G>A (p.Val90Met)
|
rs1016346013
|
0.00002
|
NM_000228.3(LAMB3):c.2110G>C (p.Glu704Gln)
|
rs750850607
|
0.00002
|
NM_000231.3(SGCG):c.535G>A (p.Val179Met)
|
rs139072866
|
0.00002
|
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser)
|
rs562875924
|
0.00002
|
NM_000238.4(KCNH2):c.3289G>A (p.Val1097Ile)
|
rs199473030
|
0.00002
|
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val)
|
rs1057519328
|
0.00002
|
NM_000243.3(MEFV):c.1229G>A (p.Arg410His)
|
rs1399033974
|
0.00002
|
NM_000243.3(MEFV):c.1759+12G>A
|
rs749730274
|
0.00002
|
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)
|
rs104895202
|
0.00002
|
NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu)
|
rs746092199
|
0.00002
|
NM_000243.3(MEFV):c.239G>A (p.Arg80His)
|
rs201075710
|
0.00002
|
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)
|
rs104895124
|
0.00002
|
NM_000249.4(MLH1):c.1890T>G (p.Ile630Met)
|
rs774878438
|
0.00002
|
NM_000249.4(MLH1):c.776T>C (p.Leu259Ser)
|
rs56250509
|
0.00002
|
NM_000249.4(MLH1):c.790C>T (p.His264Tyr)
|
rs63751597
|
0.00002
|
NM_000249.4(MLH1):c.928A>G (p.Thr310Ala)
|
rs779581111
|
0.00002
|
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln)
|
rs63750268
|
0.00002
|
NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala)
|
rs150503781
|
0.00002
|
NM_000251.3(MSH2):c.116G>C (p.Arg39Pro)
|
rs587782759
|
0.00002
|
NM_000251.3(MSH2):c.1276+7A>G
|
rs748554540
|
0.00002
|
NM_000251.3(MSH2):c.1570C>T (p.Arg524Cys)
|
rs755818010
|
0.00002
|
NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro)
|
rs774440277
|
0.00002
|
NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile)
|
rs267608015
|
0.00002
|
NM_000251.3(MSH2):c.2621A>G (p.Tyr874Cys)
|
rs775390721
|
0.00002
|
NM_000251.3(MSH2):c.2777T>A (p.Ile926Asn)
|
rs199747712
|
0.00002
|
NM_000251.3(MSH2):c.792+5A>G
|
rs267607935
|
0.00002
|
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)
|
rs750746034
|
0.00002
|
NM_000251.3(MSH2):c.894G>C (p.Gln298His)
|
rs587781397
|
0.00002
|
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His)
|
rs727504396
|
0.00002
|
NM_000257.4(MYH7):c.11C>T (p.Ser4Leu)
|
rs758659692
|
0.00002
|
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)
|
rs397516142
|
0.00002
|
NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser)
|
rs367546859
|
0.00002
|
NM_000257.4(MYH7):c.3854-5C>T
|
rs752385694
|
0.00002
|
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His)
|
rs750836033
|
0.00002
|
NM_000257.4(MYH7):c.4762C>T (p.Arg1588Cys)
|
rs1194197356
|
0.00002
|
NM_000257.4(MYH7):c.5090G>A (p.Arg1697Gln)
|
rs766831916
|
0.00002
|
NM_000257.4(MYH7):c.5537G>A (p.Arg1846His)
|
rs757803046
|
0.00002
|
NM_000258.3(MYL3):c.136T>C (p.Phe46Leu)
|
rs730880953
|
0.00002
|
NM_000258.3(MYL3):c.152T>C (p.Ile51Thr)
|
rs749017586
|
0.00002
|
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly)
|
rs193922391
|
0.00002
|
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met)
|
rs782681743
|
0.00002
|
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys)
|
rs782459520
|
0.00002
|
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys)
|
rs111534474
|
0.00002
|
NM_000260.4(MYO7A):c.5522C>T (p.Thr1841Met)
|
rs746667217
|
0.00002
|
NM_000262.3(NAGA):c.358G>A (p.Ala120Thr)
|
rs749506008
|
0.00002
|
NM_000274.4(OAT):c.46C>T (p.Arg16Cys)
|
rs778757920
|
0.00002
|
NM_000302.4(PLOD1):c.742-6C>T
|
rs569632202
|
0.00002
|
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)
|
rs386833640
|
0.00002
|
NM_000314.6(PTEN):c.-929G>A
|
rs1554889924
|
0.00002
|
NM_000314.8(PTEN):c.-765G>A
|
rs587776674
|
0.00002
|
NM_000321.3(RB1):c.2491A>G (p.Ile831Val)
|
rs761068783
|
0.00002
|
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)
|
rs62637004
|
0.00002
|
NM_000334.4(SCN4A):c.1378G>A (p.Glu460Lys)
|
rs540596321
|
0.00002
|
NM_000334.4(SCN4A):c.3002G>A (p.Arg1001His)
|
rs770588235
|
0.00002
|
NM_000334.4(SCN4A):c.56C>T (p.Pro19Leu)
|
rs745506979
|
0.00002
|
NM_000335.5(SCN5A):c.157C>T (p.Arg53Trp)
|
rs878859550
|
0.00002
|
NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile)
|
rs958480279
|
0.00002
|
NM_000335.5(SCN5A):c.3067C>T (p.Arg1023Cys)
|
rs745435760
|
0.00002
|
NM_000335.5(SCN5A):c.5735G>A (p.Arg1912His)
|
rs199473327
|
0.00002
|
NM_000350.3(ABCA4):c.2304C>G (p.Ile768Met)
|
rs946594091
|
0.00002
|
NM_000350.3(ABCA4):c.3449G>A (p.Cys1150Tyr)
|
rs375783686
|
0.00002
|
NM_000352.6(ABCC8):c.1886C>T (p.Pro629Leu)
|
rs375862506
|
0.00002
|
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln)
|
rs755707550
|
0.00002
|
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr)
|
rs761862121
|
0.00002
|
NM_000352.6(ABCC8):c.3175G>A (p.Asp1059Asn)
|
rs755718934
|
0.00002
|
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)
|
rs141322087
|
0.00002
|
NM_000360.4(TH):c.1061C>T (p.Ala354Val)
|
rs763039181
|
0.00002
|
NM_000363.5(TNNI3):c.283-9C>T
|
rs759922995
|
0.00002
|
NM_000372.5(TYR):c.646T>A (p.Leu216Met)
|
rs61754363
|
0.00002
|
NM_000382.3(ALDH3A2):c.1393G>A (p.Gly465Ser)
|
rs371197295
|
0.00002
|
NM_000382.3(ALDH3A2):c.1443+1G>A
|
rs199548781
|
0.00002
|
NM_000388.4(CASR):c.220A>C (p.Met74Leu)
|
rs745377913
|
0.00002
|
NM_000393.5(COL5A2):c.3826A>G (p.Ser1276Gly)
|
rs555111281
|
0.00002
|
NM_000396.4(CTSK):c.137G>A (p.Arg46Gln)
|
rs200870056
|
0.00002
|
NM_000400.4(ERCC2):c.1774C>T (p.Arg592Cys)
|
rs190678702
|
0.00002
|
NM_000414.4(HSD17B4):c.587C>T (p.Ala196Val)
|
rs550705310
|
0.00002
|
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys)
|
rs143626559
|
0.00002
|
NM_000426.4(LAMA2):c.358G>A (p.Glu120Lys)
|
rs778869610
|
0.00002
|
NM_000435.3(NOTCH3):c.6266C>T (p.Pro2089Leu)
|
rs749288986
|
0.00002
|
NM_000441.2(SLC26A4):c.1300G>A (p.Ala434Thr)
|
rs757552791
|
0.00002
|
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn)
|
rs759360026
|
0.00002
|
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)
|
rs199588131
|
0.00002
|
NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn)
|
rs994170964
|
0.00002
|
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe)
|
rs760040670
|
0.00002
|
NM_000455.5(STK11):c.-9G>A
|
rs770466669
|
0.00002
|
NM_000455.5(STK11):c.1040C>T (p.Ala347Val)
|
rs587782058
|
0.00002
|
NM_000455.5(STK11):c.1108+3G>A
|
rs755746417
|
0.00002
|
NM_000455.5(STK11):c.1168G>A (p.Val390Met)
|
rs374078532
|
0.00002
|
NM_000455.5(STK11):c.1229C>T (p.Ala410Val)
|
rs372329880
|
0.00002
|
NM_000455.5(STK11):c.944C>T (p.Pro315Leu)
|
rs766958608
|
0.00002
|
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser)
|
rs982085453
|
0.00002
|
NM_000465.4(BARD1):c.159-7C>T
|
rs533403598
|
0.00002
|
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn)
|
rs370771157
|
0.00002
|
NM_000465.4(BARD1):c.1693C>T (p.Arg565Cys)
|
rs587782279
|
0.00002
|
NM_000465.4(BARD1):c.443G>A (p.Ser148Asn)
|
rs1220764138
|
0.00002
|
NM_000465.4(BARD1):c.476G>A (p.Ser159Asn)
|
rs786203226
|
0.00002
|
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly)
|
rs16852741
|
0.00002
|
NM_000465.4(BARD1):c.776A>G (p.Asp259Gly)
|
rs587780036
|
0.00002
|
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys)
|
rs398123419
|
0.00002
|
NM_000492.4(CFTR):c.127G>A (p.Val43Ile)
|
rs370586917
|
0.00002
|
NM_000492.4(CFTR):c.1453A>T (p.Ser485Cys)
|
rs138427145
|
0.00002
|
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg)
|
rs368516826
|
0.00002
|
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly)
|
rs374453187
|
0.00002
|
NM_000492.4(CFTR):c.1680-13A>G
|
rs757981933
|
0.00002
|
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly)
|
rs397508270
|
0.00002
|
NM_000492.4(CFTR):c.1762G>A (p.Glu588Lys)
|
rs755986694
|
0.00002
|
NM_000492.4(CFTR):c.2490+5G>T
|
rs764466147
|
0.00002
|
NM_000492.4(CFTR):c.2629T>G (p.Ser877Ala)
|
rs761531223
|
0.00002
|
NM_000492.4(CFTR):c.2687C>T (p.Thr896Ile)
|
rs752617117
|
0.00002
|
NM_000492.4(CFTR):c.2713G>C (p.Val905Leu)
|
rs886186687
|
0.00002
|
NM_000492.4(CFTR):c.2908+19G>C
|
rs370683572
|
0.00002
|
NM_000492.4(CFTR):c.3325A>G (p.Ile1109Val)
|
rs759394109
|
0.00002
|
NM_000492.4(CFTR):c.3503A>G (p.Asp1168Gly)
|
rs150326506
|
0.00002
|
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val)
|
rs749662161
|
0.00002
|
NM_000492.4(CFTR):c.3983T>C (p.Ile1328Thr)
|
rs115762793
|
0.00002
|
NM_000492.4(CFTR):c.4045G>A (p.Gly1349Ser)
|
rs201686600
|
0.00002
|
NM_000492.4(CFTR):c.4261G>T (p.Val1421Leu)
|
rs578237673
|
0.00002
|
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)
|
rs367850319
|
0.00002
|
NM_000492.4(CFTR):c.76A>G (p.Lys26Glu)
|
rs759726535
|
0.00002
|
NM_000492.4(CFTR):c.869+8G>T
|
rs773933167
|
0.00002
|
NM_000492.4(CFTR):c.964G>A (p.Val322Met)
|
rs1800085
|
0.00002
|
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe)
|
rs193922533
|
0.00002
|
NM_000494.4(COL17A1):c.3580T>C (p.Ser1194Pro)
|
rs139697030
|
0.00002
|
NM_000500.9(CYP21A2):c.922T>G (p.Leu308Val)
|
rs994764994
|
0.00002
|
NM_000501.4(ELN):c.133+6G>A
|
rs1216357938
|
0.00002
|
NM_000512.5(GALNS):c.1052C>T (p.Ala351Val)
|
rs761386453
|
0.00002
|
NM_000515.5(GH1):c.350A>G (p.Gln117Arg)
|
rs142396035
|
0.00002
|
NM_000518.5(HBB):c.*93A>T
|
rs901033731
|
0.00002
|
NM_000518.5(HBB):c.-21T>C
|
rs772919319
|
0.00002
|
NM_000518.5(HBB):c.151A>T (p.Thr51Ser)
|
rs63750336
|
0.00002
|
NM_000518.5(HBB):c.223G>A (p.Gly75Ser)
|
rs33916541
|
0.00002
|
NM_000518.5(HBB):c.41C>T (p.Ala14Val)
|
rs35203747
|
0.00002
|
NM_000520.5(HEXA):c.-593T>C
|
rs1483623884
|
0.00002
|
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp)
|
rs751592419
|
0.00002
|
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His)
|
rs771797701
|
0.00002
|
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn)
|
rs767767730
|
0.00002
|
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)
|
rs149227308
|
0.00002
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn)
|
rs201971888
|
0.00002
|
NM_000527.5(LDLR):c.1900C>T (p.Leu634Phe)
|
rs1279368649
|
0.00002
|
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser)
|
rs747721968
|
0.00002
|
NM_000528.4(MAN2B1):c.2945C>T (p.Pro982Leu)
|
rs376856949
|
0.00002
|
NM_000531.6(OTC):c.380C>T (p.Thr127Met)
|
rs762910963
|
0.00002
|
NM_000535.7(PMS2):c.139C>G (p.Leu47Val)
|
rs766203500
|
0.00002
|
NM_000535.7(PMS2):c.1435C>G (p.His479Asp)
|
rs376344586
|
0.00002
|
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val)
|
rs150630090
|
0.00002
|
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr)
|
rs587782671
|
0.00002
|
NM_000535.7(PMS2):c.23+7G>C
|
rs878854047
|
0.00002
|
NM_000535.7(PMS2):c.964G>A (p.Val322Ile)
|
rs587782208
|
0.00002
|
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys)
|
rs111272095
|
0.00002
|
NM_000540.3(RYR1):c.4710C>T (p.Asn1570=)
|
rs763113534
|
0.00002
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys)
|
rs755394212
|
0.00002
|
NM_000546.6(TP53):c.464C>G (p.Thr155Ser)
|
rs786202752
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_000546.6(TP53):c.665C>T (p.Pro222Leu)
|
rs146340390
|
0.00002
|
NM_000548.5(TSC2):c.3610+4C>T
|
rs201978396
|
0.00002
|
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)
|
rs104893831
|
0.00002
|
NM_000552.5(VWF):c.4000C>T (p.Arg1334Trp)
|
rs746810319
|
0.00002
|
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr)
|
rs779439947
|
0.00002
|
NM_000642.3(AGL):c.3836+3A>G
|
rs372921189
|
0.00002
|
NM_000709.4(BCKDHA):c.508C>T (p.Pro170Ser)
|
rs34956071
|
0.00002
|
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)
|
rs145901144
|
0.00002
|
NM_000718.4(CACNA1B):c.4584G>C (p.Leu1528=)
|
rs1363673878
|
0.00002
|
NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu)
|
rs752247655
|
0.00002
|
NM_000744.7(CHRNA4):c.35T>C (p.Leu12Pro)
|
rs1060503516
|
0.00002
|
NM_001005242.3(PKP2):c.1379-1972G>A
|
rs779392697
|
0.00002
|
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr)
|
rs727503373
|
0.00002
|
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu)
|
rs746530389
|
0.00002
|
NM_001008216.2(GALE):c.878C>T (p.Pro293Leu)
|
rs775072430
|
0.00002
|
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser)
|
rs144064367
|
0.00002
|
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu)
|
rs757316102
|
0.00002
|
NM_001035.3(RYR2):c.12331A>C (p.Asn4111His)
|
rs192890834
|
0.00002
|
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys)
|
rs397516527
|
0.00002
|
NM_001035.3(RYR2):c.458C>T (p.Thr153Ile)
|
rs766802574
|
0.00002
|
NM_001035.3(RYR2):c.9259C>T (p.Pro3087Ser)
|
rs777736127
|
0.00002
|
NM_001036.6(RYR3):c.13784C>G (p.Ala4595Gly)
|
rs770077165
|
0.00002
|
NM_001037.5(SCN1B):c.448+100G>T
|
rs779658201
|
0.00002
|
NM_001042492.3(NF1):c.3970A>G (p.Thr1324Ala)
|
rs189522993
|
0.00002
|
NM_001042492.3(NF1):c.4958G>A (p.Arg1653His)
|
rs763413441
|
0.00002
|
NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys)
|
rs762169098
|
0.00002
|
NM_001042492.3(NF1):c.8073T>G (p.His2691Gln)
|
rs375468032
|
0.00002
|
NM_001042517.2(DIAPH3):c.1561A>G (p.Thr521Ala)
|
rs775151037
|
0.00002
|
NM_001042545.2(LTBP4):c.2638C>T (p.Pro880Ser)
|
rs761312837
|
0.00002
|
NM_001048174.2(MUTYH):c.1165C>T (p.Arg389Cys)
|
rs773370513
|
0.00002
|
NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His)
|
rs373803765
|
0.00002
|
NM_001048174.2(MUTYH):c.1172C>A (p.Ala391Asp)
|
rs369299948
|
0.00002
|
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln)
|
rs587782120
|
0.00002
|
NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp)
|
rs779997419
|
0.00002
|
NM_001048174.2(MUTYH):c.504G>C (p.Glu168Asp)
|
rs587781645
|
0.00002
|
NM_001048174.2(MUTYH):c.83A>G (p.Asn28Ser)
|
rs563275223
|
0.00002
|
NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala)
|
rs587778537
|
0.00002
|
NM_001077350.3(NPRL3):c.1330G>A (p.Ala444Thr)
|
rs368198378
|
0.00002
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
NM_001077365.2(POMT1):c.2098G>A (p.Gly700Arg)
|
rs912556508
|
0.00002
|
NM_001082486.2(ACD):c.1004G>A (p.Arg335His)
|
rs774558672
|
0.00002
|
NM_001083116.3(PRF1):c.886T>C (p.Tyr296His)
|
rs148237800
|
0.00002
|
NM_001085049.3(MRAS):c.548G>A (p.Ser183Asn)
|
rs562054267
|
0.00002
|
NM_001103.4(ACTN2):c.1081A>G (p.Met361Val)
|
rs368409665
|
0.00002
|
NM_001103.4(ACTN2):c.536+6C>G
|
rs771398006
|
0.00002
|
NM_001103.4(ACTN2):c.892C>T (p.Arg298Cys)
|
rs1060503683
|
0.00002
|
NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys)
|
rs781928289
|
0.00002
|
NM_001110556.2(FLNA):c.5447C>T (p.Ala1816Val)
|
rs12395634
|
0.00002
|
NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly)
|
rs953454766
|
0.00002
|
NM_001110556.2(FLNA):c.7259T>C (p.Val2420Ala)
|
rs782289803
|
0.00002
|
NM_001110792.2(MECP2):c.1151A>C (p.His384Pro)
|
rs782019867
|
0.00002
|
NM_001110792.2(MECP2):c.1153T>C (p.Ser385Pro)
|
rs782420258
|
0.00002
|
NM_001110792.2(MECP2):c.1154C>A (p.Ser385Ter)
|
rs267608569
|
0.00002
|
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu)
|
rs193922676
|
0.00002
|
NM_001110792.2(MECP2):c.1483G>A (p.Glu495Lys)
|
rs587777421
|
0.00002
|
NM_001110792.2(MECP2):c.52G>A (p.Glu18Lys)
|
rs1234894476
|
0.00002
|
NM_001113378.2(FANCI):c.3188A>T (p.Asp1063Val)
|
rs142756279
|
0.00002
|
NM_001114134.2(EPB42):c.1041G>T (p.Gln347His)
|
rs574359460
|
0.00002
|
NM_001128159.3(VPS53):c.2371C>T (p.Arg791Cys)
|
rs1188509631
|
0.00002
|
NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr)
|
rs560905645
|
0.00002
|
NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr)
|
rs587782837
|
0.00002
|
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp)
|
rs527435707
|
0.00002
|
NM_001130987.2(DYSF):c.3517C>T (p.Arg1173Cys)
|
rs372297758
|
0.00002
|
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu)
|
rs773837400
|
0.00002
|
NM_001134407.3(GRIN2A):c.2908C>T (p.Arg970Trp)
|
rs765257420
|
0.00002
|
NM_001136472.2(LITAF):c.479G>A (p.Arg160His)
|
rs864622744
|
0.00002
|
NM_001148.6(ANK2):c.10646G>A (p.Arg3549His)
|
rs768351547
|
0.00002
|
NM_001148.6(ANK2):c.2044C>G (p.Leu682Val)
|
rs749503484
|
0.00002
|
NM_001148.6(ANK2):c.3067G>A (p.Gly1023Arg)
|
rs151127289
|
0.00002
|
NM_001148.6(ANK2):c.5426C>T (p.Ala1809Val)
|
rs531261130
|
0.00002
|
NM_001148.6(ANK2):c.9703C>T (p.Pro3235Ser)
|
rs202098889
|
0.00002
|
NM_001164508.2(NEB):c.20342G>A (p.Arg6781His)
|
rs752285938
|
0.00002
|
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His)
|
rs759962661
|
0.00002
|
NM_001194998.2(CEP152):c.2148-17G>A
|
rs751691427
|
0.00002
|
NM_001194998.2(CEP152):c.4094-1G>A
|
rs759175035
|
0.00002
|
NM_001197104.2(KMT2A):c.10901-5A>G
|
rs369909433
|
0.00002
|
NM_001199138.2(NLRC4):c.104G>A (p.Arg35His)
|
rs755228287
|
0.00002
|
NM_001220.5(CAMK2B):c.1176+9C>G
|
rs766988307
|
0.00002
|
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp)
|
rs563580010
|
0.00002
|
NM_001244008.2(KIF1A):c.3509G>A (p.Ser1170Asn)
|
rs776451256
|
0.00002
|
NM_001267550.2(TTN):c.100696A>G (p.Thr33566Ala)
|
rs878854282
|
0.00002
|
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp)
|
rs367926247
|
0.00002
|
NM_001267550.2(TTN):c.103996C>G (p.Pro34666Ala)
|
rs201240519
|
0.00002
|
NM_001267550.2(TTN):c.1450G>A (p.Asp484Asn)
|
rs768211726
|
0.00002
|
NM_001267550.2(TTN):c.2219G>A (p.Arg740His)
|
rs28933405
|
0.00002
|
NM_001267550.2(TTN):c.24701C>T (p.Thr8234Ile)
|
rs369521909
|
0.00002
|
NM_001267550.2(TTN):c.2504C>A (p.Ala835Asp)
|
rs200572298
|
0.00002
|
NM_001267550.2(TTN):c.26179G>A (p.Val8727Ile)
|
rs544958705
|
0.00002
|
NM_001267550.2(TTN):c.28754-11T>C
|
rs146738622
|
0.00002
|
NM_001267550.2(TTN):c.34925C>T (p.Ala11642Val)
|
rs375391365
|
0.00002
|
NM_001267550.2(TTN):c.41980C>T (p.Pro13994Ser)
|
rs201232835
|
0.00002
|
NM_001267550.2(TTN):c.43691C>G (p.Ser14564Cys)
|
rs377015571
|
0.00002
|
NM_001267550.2(TTN):c.52679A>T (p.Asp17560Val)
|
rs954068043
|
0.00002
|
NM_001267550.2(TTN):c.5503C>A (p.Gln1835Lys)
|
rs537070177
|
0.00002
|
NM_001267550.2(TTN):c.55405A>C (p.Thr18469Pro)
|
rs1044328956
|
0.00002
|
NM_001267550.2(TTN):c.59827G>A (p.Glu19943Lys)
|
rs751863629
|
0.00002
|
NM_001267550.2(TTN):c.59917G>A (p.Asp19973Asn)
|
rs148353350
|
0.00002
|
NM_001267550.2(TTN):c.63794-15T>C
|
rs762325051
|
0.00002
|
NM_001267550.2(TTN):c.64816G>C (p.Asp21606His)
|
rs751046367
|
0.00002
|
NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr)
|
rs727505036
|
0.00002
|
NM_001267550.2(TTN):c.67487A>G (p.Lys22496Arg)
|
rs397517669
|
0.00002
|
NM_001267550.2(TTN):c.68818G>A (p.Glu22940Lys)
|
rs1443126035
|
0.00002
|
NM_001267550.2(TTN):c.76070G>A (p.Arg25357His)
|
rs397517703
|
0.00002
|
NM_001267550.2(TTN):c.81029T>C (p.Val27010Ala)
|
rs369235214
|
0.00002
|
NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu)
|
rs766419568
|
0.00002
|
NM_001267550.2(TTN):c.89054A>G (p.Lys29685Arg)
|
rs773157007
|
0.00002
|
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu)
|
rs587780983
|
0.00002
|
NM_001267550.2(TTN):c.96871A>T (p.Thr32291Ser)
|
rs1377452178
|
0.00002
|
NM_001276345.2(TNNT2):c.110C>G (p.Ala37Gly)
|
rs776406819
|
0.00002
|
NM_001276345.2(TNNT2):c.40G>A (p.Glu14Lys)
|
rs772890125
|
0.00002
|
NM_001276345.2(TNNT2):c.720-6G>A
|
rs113471285
|
0.00002
|
NM_001289808.2(CRYAB):c.325-2A>G
|
rs202024436
|
0.00002
|
NM_001291303.3(FAT4):c.9156C>A (p.Asp3052Glu)
|
rs761372826
|
0.00002
|
NM_001292034.3(TAB2):c.1747A>G (p.Ile583Val)
|
rs202240545
|
0.00002
|
NM_001292063.2(OTOG):c.2525C>A (p.Pro842His)
|
rs560987450
|
0.00002
|
NM_001303256.3(MORC2):c.2243T>C (p.Val748Ala)
|
rs746418433
|
0.00002
|
NM_001322934.2(NFKB2):c.1726G>C (p.Glu576Gln)
|
rs1306109565
|
0.00002
|
NM_001330260.2(SCN8A):c.1876T>C (p.Ser626Pro)
|
rs753009673
|
0.00002
|
NM_001349253.2(SCN11A):c.2944C>T (p.Arg982Ter)
|
rs145290679
|
0.00002
|
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp)
|
rs775773057
|
0.00002
|
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe)
|
rs782757170
|
0.00002
|
NM_001365088.1(SLC12A6):c.3427A>G (p.Ser1143Gly)
|
rs1322848611
|
0.00002
|
NM_001367624.2(ZNF469):c.3119A>C (p.Lys1040Thr)
|
rs273585619
|
0.00002
|
NM_001369268.1(ACAN):c.1201G>A (p.Val401Ile)
|
rs200027891
|
0.00002
|
NM_001369268.1(ACAN):c.553C>A (p.Pro185Thr)
|
rs751285545
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_001372043.1(PCSK5):c.5315T>C (p.Leu1772Pro)
|
rs905582676
|
0.00002
|
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met)
|
rs751030969
|
0.00002
|
NM_001378454.1(ALMS1):c.10261C>A (p.Pro3421Thr)
|
rs763306448
|
0.00002
|
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln)
|
rs148044176
|
0.00002
|
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr)
|
rs45630562
|
0.00002
|
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala)
|
rs760866713
|
0.00002
|
NM_001378454.1(ALMS1):c.7541-6C>T
|
rs1408073039
|
0.00002
|
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu)
|
rs996036496
|
0.00002
|
NM_001378454.1(ALMS1):c.9075A>G (p.Pro3025=)
|
rs1278648561
|
0.00002
|
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser)
|
rs775666186
|
0.00002
|
NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His)
|
rs886940102
|
0.00002
|
NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter)
|
rs750954043
|
0.00002
|
NM_001379500.1(COL18A1):c.979C>T (p.Arg327Trp)
|
rs551388856
|
0.00002
|
NM_001379610.1(SPINK1):c.-14G>A
|
rs373391756
|
0.00002
|
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe)
|
rs750009006
|
0.00002
|
NM_001384140.1(PCDH15):c.841A>G (p.Thr281Ala)
|
rs773843633
|
0.00002
|
NM_001384474.1(LOXHD1):c.5930G>A (p.Arg1977His)
|
rs1456219036
|
0.00002
|
NM_001386298.1(CIC):c.6664C>T (p.Arg2222Trp)
|
rs773220927
|
0.00002
|
NM_001386393.1(PANK2):c.203C>T (p.Ser68Leu)
|
rs137852969
|
0.00002
|
NM_001429.4(EP300):c.1094A>G (p.Asn365Ser)
|
rs747431211
|
0.00002
|
NM_001448.3(GPC4):c.650C>T (p.Ala217Val)
|
rs2068380433
|
0.00002
|
NM_001457.4(FLNB):c.5051A>G (p.Tyr1684Cys)
|
rs376280025
|
0.00002
|
NM_001458.5(FLNC):c.4270G>A (p.Gly1424Arg)
|
rs1202331272
|
0.00002
|
NM_001493.3(GDI1):c.1192-5T>C
|
rs782184019
|
0.00002
|
NM_001690.4(ATP6V1A):c.590A>G (p.Glu197Gly)
|
rs747456726
|
0.00002
|
NM_001845.6(COL4A1):c.4970C>T (p.Thr1657Met)
|
rs779139113
|
0.00002
|
NM_001846.4(COL4A2):c.2344G>A (p.Gly782Arg)
|
rs768662646
|
0.00002
|
NM_001854.4(COL11A1):c.1309-7G>A
|
rs748684225
|
0.00002
|
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg)
|
rs760895692
|
0.00002
|
NM_001875.5(CPS1):c.1255C>T (p.Arg419Trp)
|
rs139818667
|
0.00002
|
NM_001887.4(CRYBB1):c.692G>A (p.Arg231His)
|
rs745344551
|
0.00002
|
NM_001918.5(DBT):c.1A>G (p.Met1Val)
|
rs759312184
|
0.00002
|
NM_001927.4(DES):c.1325C>A (p.Thr442Asn)
|
rs121913005
|
0.00002
|
NM_001927.4(DES):c.167T>A (p.Val56Glu)
|
rs1170549656
|
0.00002
|
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met)
|
rs200137091
|
0.00002
|
NM_001985.3(ETFB):c.134C>T (p.Ala45Val)
|
rs770414295
|
0.00002
|
NM_001999.4(FBN2):c.3349G>A (p.Asp1117Asn)
|
rs537477883
|
0.00002
|
NM_002180.3(IGHMBP2):c.790C>T (p.Arg264Cys)
|
rs139497493
|
0.00002
|
NM_002185.5(IL7R):c.653G>A (p.Ser218Asn)
|
rs374232919
|
0.00002
|
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser)
|
rs544110604
|
0.00002
|
NM_002225.5(IVD):c.596G>T (p.Gly199Val)
|
rs121434285
|
0.00002
|
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe)
|
rs142213474
|
0.00002
|
NM_002230.4(JUP):c.1804C>T (p.Arg602Cys)
|
rs199511559
|
0.00002
|
NM_002230.4(JUP):c.286G>A (p.Glu96Lys)
|
rs191683892
|
0.00002
|
NM_002230.4(JUP):c.682A>G (p.Ile228Val)
|
rs374566089
|
0.00002
|
NM_002230.4(JUP):c.951G>C (p.Gln317His)
|
rs782215140
|
0.00002
|
NM_002294.3(LAMP2):c.1094-10C>T
|
rs1278507301
|
0.00002
|
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser)
|
rs765290711
|
0.00002
|
NM_002471.4(MYH6):c.3135G>T (p.Lys1045Asn)
|
rs758449996
|
0.00002
|
NM_002471.4(MYH6):c.3697G>A (p.Val1233Ile)
|
rs144761217
|
0.00002
|
NM_002471.4(MYH6):c.4182G>C (p.Lys1394Asn)
|
rs753160962
|
0.00002
|
NM_002471.4(MYH6):c.4624C>A (p.Leu1542Met)
|
rs750721562
|
0.00002
|
NM_002471.4(MYH6):c.5111C>T (p.Ala1704Val)
|
rs776961989
|
0.00002
|
NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile)
|
rs201383498
|
0.00002
|
NM_002471.4(MYH6):c.5660C>T (p.Ala1887Val)
|
rs767096302
|
0.00002
|
NM_002474.3(MYH11):c.3214G>A (p.Ala1072Thr)
|
rs759155353
|
0.00002
|
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)
|
rs587780773
|
0.00002
|
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu)
|
rs863224714
|
0.00002
|
NM_002485.5(NBN):c.1591A>G (p.Ile531Val)
|
rs587782330
|
0.00002
|
NM_002485.5(NBN):c.1667T>A (p.Val556Glu)
|
rs558023830
|
0.00002
|
NM_002485.5(NBN):c.1845+3A>G
|
rs587780777
|
0.00002
|
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys)
|
rs766602873
|
0.00002
|
NM_002485.5(NBN):c.1925A>G (p.Lys642Arg)
|
rs587781547
|
0.00002
|
NM_002485.5(NBN):c.193G>A (p.Val65Ile)
|
rs778998026
|
0.00002
|
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)
|
rs730881856
|
0.00002
|
NM_002485.5(NBN):c.2070+4G>A
|
rs876660950
|
0.00002
|
NM_002485.5(NBN):c.775G>A (p.Glu259Lys)
|
rs201559159
|
0.00002
|
NM_002485.5(NBN):c.940G>A (p.Val314Met)
|
rs529845940
|
0.00002
|
NM_002691.4(POLD1):c.1666G>A (p.Val556Ile)
|
rs762273084
|
0.00002
|
NM_002691.4(POLD1):c.2250+5G>C
|
rs772130395
|
0.00002
|
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala)
|
rs767216577
|
0.00002
|
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)
|
rs367610201
|
0.00002
|
NM_002693.3(POLG):c.3266A>G (p.Gln1089Arg)
|
rs369716454
|
0.00002
|
NM_002734.5(PRKAR1A):c.329C>T (p.Ala110Val)
|
rs1194755479
|
0.00002
|
NM_002769.5(PRSS1):c.200C>T (p.Ser67Phe)
|
rs765342413
|
0.00002
|
NM_002769.5(PRSS1):c.35C>T (p.Ala12Val)
|
rs772363999
|
0.00002
|
NM_002769.5(PRSS1):c.361G>A (p.Ala121Thr)
|
rs199422123
|
0.00002
|
NM_002769.5(PRSS1):c.454+5G>T
|
rs1468322371
|
0.00002
|
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)
|
rs201247699
|
0.00002
|
NM_002834.5(PTPN11):c.1649C>T (p.Ala550Val)
|
rs767712281
|
0.00002
|
NM_002878.4(RAD51D):c.738+3G>A
|
rs751062153
|
0.00002
|
NM_002878.4(RAD51D):c.872G>A (p.Arg291His)
|
rs150134822
|
0.00002
|
NM_002880.4(RAF1):c.1193+17C>T
|
rs753928357
|
0.00002
|
NM_002880.4(RAF1):c.819C>G (p.Asp273Glu)
|
rs771675427
|
0.00002
|
NM_002880.4(RAF1):c.952C>T (p.Arg318Trp)
|
rs759433668
|
0.00002
|
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu)
|
rs201372601
|
0.00002
|
NM_003036.4(SKI):c.1211+17C>T
|
rs753878221
|
0.00002
|
NM_003098.3(SNTA1):c.702-7C>G
|
rs780688953
|
0.00002
|
NM_003098.3(SNTA1):c.70G>A (p.Gly24Ser)
|
rs786205847
|
0.00002
|
NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg)
|
rs367582146
|
0.00002
|
NM_003738.5(PTCH2):c.1081C>T (p.Gln361Ter)
|
rs757205202
|
0.00002
|
NM_003738.5(PTCH2):c.1783C>T (p.His595Tyr)
|
rs199563590
|
0.00002
|
NM_003738.5(PTCH2):c.70C>G (p.Gln24Glu)
|
rs1038343665
|
0.00002
|
NM_003764.4(STX11):c.842T>G (p.Phe281Cys)
|
rs560006390
|
0.00002
|
NM_003907.3(EIF2B5):c.1153A>G (p.Ile385Val)
|
rs113994073
|
0.00002
|
NM_003982.4(SLC7A7):c.371T>C (p.Leu124Pro)
|
rs386833814
|
0.00002
|
NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe)
|
rs375329908
|
0.00002
|
NM_004006.3(DMD):c.4427T>C (p.Met1476Thr)
|
rs371646182
|
0.00002
|
NM_004006.3(DMD):c.4604C>T (p.Thr1535Met)
|
rs1431604157
|
0.00002
|
NM_004006.3(DMD):c.9695G>A (p.Arg3232His)
|
rs751095907
|
0.00002
|
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr)
|
rs770931871
|
0.00002
|
NM_004100.5(EYA4):c.-14A>G
|
rs760845191
|
0.00002
|
NM_004100.5(EYA4):c.1107+10C>G
|
rs752586864
|
0.00002
|
NM_004100.5(EYA4):c.704C>T (p.Pro235Leu)
|
rs765608642
|
0.00002
|
NM_004304.5(ALK):c.2569C>T (p.His857Tyr)
|
rs754393402
|
0.00002
|
NM_004320.6(ATP2A1):c.971G>A (p.Arg324His)
|
rs751166692
|
0.00002
|
NM_004329.3(BMPR1A):c.-8A>G
|
rs546681014
|
0.00002
|
NM_004329.3(BMPR1A):c.1333A>G (p.Ile445Val)
|
rs587781503
|
0.00002
|
NM_004329.3(BMPR1A):c.560G>A (p.Arg187His)
|
rs189059377
|
0.00002
|
NM_004333.6(BRAF):c.*7T>C
|
rs727502903
|
0.00002
|
NM_004341.5(CAD):c.5014G>A (p.Ala1672Thr)
|
rs369531964
|
0.00002
|
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln)
|
rs373364873
|
0.00002
|
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu)
|
rs587782359
|
0.00002
|
NM_004360.5(CDH1):c.1178T>A (p.Ile393Asn)
|
rs34466743
|
0.00002
|
NM_004360.5(CDH1):c.1423G>A (p.Val475Met)
|
rs587782113
|
0.00002
|
NM_004360.5(CDH1):c.1679C>T (p.Thr560Met)
|
rs746481984
|
0.00002
|
NM_004360.5(CDH1):c.2254G>A (p.Val752Ile)
|
rs587781351
|
0.00002
|
NM_004360.5(CDH1):c.2600A>G (p.Asn867Ser)
|
rs587782623
|
0.00002
|
NM_004360.5(CDH1):c.388-8C>T
|
rs774601444
|
0.00002
|
NM_004360.5(CDH1):c.406C>A (p.Gln136Lys)
|
rs753886948
|
0.00002
|
NM_004360.5(CDH1):c.531+3A>G
|
rs766563354
|
0.00002
|
NM_004360.5(CDH1):c.845T>C (p.Met282Thr)
|
rs730881652
|
0.00002
|
NM_004370.6(COL12A1):c.1741C>T (p.Arg581Cys)
|
rs764727126
|
0.00002
|
NM_004415.4(DSP):c.2675G>A (p.Arg892His)
|
rs758592774
|
0.00002
|
NM_004415.4(DSP):c.384G>A (p.Met128Ile)
|
rs930440897
|
0.00002
|
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg)
|
rs746782582
|
0.00002
|
NM_004415.4(DSP):c.4610G>A (p.Arg1537His)
|
rs762135558
|
0.00002
|
NM_004415.4(DSP):c.6345G>T (p.Leu2115Phe)
|
rs766950975
|
0.00002
|
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)
|
rs372393122
|
0.00002
|
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)
|
rs869025397
|
0.00002
|
NM_004453.4(ETFDH):c.1732C>T (p.Arg578Trp)
|
rs763912783
|
0.00002
|
NM_004525.3(LRP2):c.13847C>T (p.Ser4616Leu)
|
rs140802648
|
0.00002
|
NM_004525.3(LRP2):c.8141C>T (p.Ser2714Leu)
|
rs774369141
|
0.00002
|
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr)
|
rs766157497
|
0.00002
|
NM_004612.4(TGFBR1):c.503G>A (p.Arg168His)
|
rs777965779
|
0.00002
|
NM_004646.4(NPHS1):c.-3G>A
|
rs1039683723
|
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_004655.4(AXIN2):c.1384C>T (p.Pro462Ser)
|
rs1060502156
|
0.00002
|
NM_004722.4(AP4M1):c.1346A>G (p.Tyr449Cys)
|
rs754456635
|
0.00002
|
NM_004733.4(SLC33A1):c.763G>A (p.Val255Ile)
|
rs1173522838
|
0.00002
|
NM_004984.4(KIF5A):c.1222C>T (p.Arg408Cys)
|
rs767181570
|
0.00002
|
NM_004984.4(KIF5A):c.2134C>T (p.Arg712Trp)
|
rs779614400
|
0.00002
|
NM_004990.4(MARS1):c.277C>T (p.Gln93Ter)
|
rs958058841
|
0.00002
|
NM_005045.4(RELN):c.10019C>T (p.Ser3340Leu)
|
rs1469215547
|
0.00002
|
NM_005045.4(RELN):c.3287A>G (p.Gln1096Arg)
|
rs780325204
|
0.00002
|
NM_005051.3(QARS1):c.1570C>T (p.Arg524Trp)
|
rs774980346
|
0.00002
|
NM_005097.4(LGI1):c.1316C>T (p.Ser439Leu)
|
rs143808356
|
0.00002
|
NM_005120.3(MED12):c.204+7C>T
|
rs776275934
|
0.00002
|
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser)
|
rs867576281
|
0.00002
|
NM_005120.3(MED12):c.5893C>T (p.Pro1965Ser)
|
rs2092336419
|
0.00002
|
NM_005188.4(CBL):c.1563+16T>G
|
rs767609973
|
0.00002
|
NM_005188.4(CBL):c.1783A>G (p.Ile595Val)
|
rs775675805
|
0.00002
|
NM_005188.4(CBL):c.195+14T>G
|
rs1011872703
|
0.00002
|
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln)
|
rs144894769
|
0.00002
|
NM_005188.4(CBL):c.2287G>A (p.Gly763Ser)
|
rs1454216416
|
0.00002
|
NM_005188.4(CBL):c.664A>C (p.Met222Leu)
|
rs773611782
|
0.00002
|
NM_005199.5(CHRNG):c.199G>A (p.Glu67Lys)
|
rs544552194
|
0.00002
|
NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn)
|
rs1303934222
|
0.00002
|
NM_005343.4(HRAS):c.450+17C>T
|
rs367869009
|
0.00002
|
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg)
|
rs866841518
|
0.00002
|
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)
|
rs776384541
|
0.00002
|
NM_005502.4(ABCA1):c.1912C>T (p.Arg638Trp)
|
rs199571829
|
0.00002
|
NM_005502.4(ABCA1):c.4050+8G>A
|
rs371581830
|
0.00002
|
NM_005591.4(MRE11):c.1139G>A (p.Arg380His)
|
rs587781646
|
0.00002
|
NM_005591.4(MRE11):c.1501-4C>G
|
rs377584386
|
0.00002
|
NM_005591.4(MRE11):c.77T>C (p.Met26Thr)
|
rs372068015
|
0.00002
|
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)
|
rs750195683
|
0.00002
|
NM_005618.4(DLL1):c.1822G>A (p.Gly608Arg)
|
rs771135690
|
0.00002
|
NM_005629.4(SLC6A8):c.833G>A (p.Arg278His)
|
rs782802482
|
0.00002
|
NM_005633.4(SOS1):c.2062C>A (p.Arg688=)
|
rs186246534
|
0.00002
|
NM_005633.4(SOS1):c.3412A>G (p.Ile1138Val)
|
rs56248239
|
0.00002
|
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile)
|
rs758258471
|
0.00002
|
NM_005676.5(RBM10):c.457G>A (p.Gly153Ser)
|
rs1198280152
|
0.00002
|
NM_005751.5(AKAP9):c.3736A>G (p.Arg1246Gly)
|
rs779232513
|
0.00002
|
NM_005751.5(AKAP9):c.48+5G>A
|
rs377559019
|
0.00002
|
NM_005751.5(AKAP9):c.5581A>G (p.Ile1861Val)
|
rs778877483
|
0.00002
|
NM_005902.4(SMAD3):c.400+5G>T
|
rs766829176
|
0.00002
|
NM_005984.5(SLC25A1):c.737C>A (p.Thr246Asn)
|
rs2083964037
|
0.00002
|
NM_006013.5(RPL10):c.484C>T (p.Arg162Cys)
|
rs372041364
|
0.00002
|
NM_006059.4(LAMC3):c.4159G>A (p.Ala1387Thr)
|
rs769688460
|
0.00002
|
NM_006231.4(POLE):c.6605C>T (p.Thr2202Met)
|
rs764457707
|
0.00002
|
NM_006258.4(PRKG1):c.478+5G>A
|
rs763059343
|
0.00002
|
NM_006270.5(RRAS):c.10G>T (p.Gly4Trp)
|
rs2081015843
|
0.00002
|
NM_006270.5(RRAS):c.454-19G>A
|
rs776793181
|
0.00002
|
NM_006270.5(RRAS):c.627G>T (p.Lys209Asn)
|
rs771557284
|
0.00002
|
NM_006306.4(SMC1A):c.1546-5C>T
|
rs1556889651
|
0.00002
|
NM_006361.6(HOXB13):c.215G>T (p.Gly72Val)
|
rs774579054
|
0.00002
|
NM_006393.3(NEBL):c.2044C>T (p.Gln682Ter)
|
rs763512999
|
0.00002
|
NM_006516.4(SLC2A1):c.103G>T (p.Ala35Ser)
|
rs796053245
|
0.00002
|
NM_006767.4(LZTR1):c.1085G>A (p.Arg362Gln)
|
rs745476291
|
0.00002
|
NM_006767.4(LZTR1):c.1175C>T (p.Ala392Val)
|
rs767354230
|
0.00002
|
NM_006767.4(LZTR1):c.2263C>T (p.Arg755Trp)
|
rs141161152
|
0.00002
|
NM_006767.4(LZTR1):c.2326-6T>C
|
rs199965510
|
0.00002
|
NM_006767.4(LZTR1):c.344C>T (p.Pro115Leu)
|
rs756852884
|
0.00002
|
NM_006772.3(SYNGAP1):c.1677-4C>G
|
rs538524761
|
0.00002
|
NM_006772.3(SYNGAP1):c.3172G>A (p.Gly1058Ser)
|
rs767071930
|
0.00002
|
NM_006892.4(DNMT3B):c.1297+6G>A
|
rs755091404
|
0.00002
|
NM_006915.3(RP2):c.481G>T (p.Asp161Tyr)
|
rs150333404
|
0.00002
|
NM_006939.4(SOS2):c.1156G>C (p.Asp386His)
|
rs776909576
|
0.00002
|
NM_006939.4(SOS2):c.2347G>T (p.Ala783Ser)
|
rs774498876
|
0.00002
|
NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu)
|
rs752525400
|
0.00002
|
NM_006946.4(SPTBN2):c.1844G>A (p.Arg615Gln)
|
rs768742849
|
0.00002
|
NM_006949.4(STXBP2):c.1190C>T (p.Ala397Val)
|
rs1309026455
|
0.00002
|
NM_007055.4(POLR3A):c.2521G>A (p.Gly841Ser)
|
rs192332506
|
0.00002
|
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)
|
rs373073383
|
0.00002
|
NM_007194.4(CHEK2):c.1562G>A (p.Arg521Gln)
|
rs373959274
|
0.00002
|
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)
|
rs371657037
|
0.00002
|
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp)
|
rs751653049
|
0.00002
|
NM_007194.4(CHEK2):c.295C>T (p.Leu99Phe)
|
rs537051622
|
0.00002
|
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His)
|
rs781254437
|
0.00002
|
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)
|
rs575910805
|
0.00002
|
NM_007194.4(CHEK2):c.608A>G (p.Asp203Gly)
|
rs587782813
|
0.00002
|
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)
|
rs587782347
|
0.00002
|
NM_007259.5(VPS45):c.1371+5A>G
|
rs369221126
|
0.00002
|
NM_007294.4(BRCA1):c.*20C>T
|
rs375042815
|
0.00002
|
NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly)
|
rs730881442
|
0.00002
|
NM_007294.4(BRCA1):c.1342C>T (p.His448Tyr)
|
rs786203578
|
0.00002
|
NM_007294.4(BRCA1):c.1361G>A (p.Ser454Asn)
|
rs80357181
|
0.00002
|
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)
|
rs80356895
|
0.00002
|
NM_007294.4(BRCA1):c.2008G>A (p.Glu670Lys)
|
rs80357029
|
0.00002
|
NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro)
|
rs28897680
|
0.00002
|
NM_007294.4(BRCA1):c.2263G>A (p.Glu755Lys)
|
rs41286296
|
0.00002
|
NM_007294.4(BRCA1):c.2897T>C (p.Ile966Thr)
|
rs879254045
|
0.00002
|
NM_007294.4(BRCA1):c.3815A>G (p.Asn1272Ser)
|
rs772703445
|
0.00002
|
NM_007294.4(BRCA1):c.5128G>A (p.Gly1710Arg)
|
rs397509229
|
0.00002
|
NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala)
|
rs80357451
|
0.00002
|
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)
|
rs80357323
|
0.00002
|
NM_007294.4(BRCA1):c.733G>T (p.Asp245Tyr)
|
rs147519994
|
0.00002
|
NM_007294.4(BRCA1):c.994C>T (p.Arg332Trp)
|
rs80357176
|
0.00002
|
NM_007373.4(SHOC2):c.961A>G (p.Thr321Ala)
|
rs779218281
|
0.00002
|
NM_012310.5(KIF4A):c.2183G>A (p.Arg728Gln)
|
rs199529123
|
0.00002
|
NM_012464.5(TLL1):c.3017C>T (p.Pro1006Leu)
|
rs996415364
|
0.00002
|
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln)
|
rs1287725303
|
0.00002
|
NM_013339.4(ALG6):c.839G>A (p.Cys280Tyr)
|
rs756608021
|
0.00002
|
NM_013382.7(POMT2):c.1006+5G>A
|
rs587780422
|
0.00002
|
NM_013382.7(POMT2):c.796G>A (p.Gly266Arg)
|
rs761773211
|
0.00002
|
NM_013975.4(LIG3):c.446G>A (p.Arg149Gln)
|
rs772050625
|
0.00002
|
NM_014159.7(SETD2):c.4804A>G (p.Ile1602Val)
|
rs374749926
|
0.00002
|
NM_014332.3(SMPX):c.139C>T (p.Pro47Ser)
|
rs750405885
|
0.00002
|
NM_014467.3(SRPX2):c.961+1G>A
|
rs1303998333
|
0.00002
|
NM_014625.4(NPHS2):c.622G>A (p.Ala208Thr)
|
rs200587413
|
0.00002
|
NM_014639.4(SKIC3):c.2703A>T (p.Gln901His)
|
rs201479762
|
0.00002
|
NM_014639.4(SKIC3):c.3637G>A (p.Gly1213Arg)
|
rs763389035
|
0.00002
|
NM_014694.4(ADAMTSL2):c.1213G>A (p.Glu405Lys)
|
rs983037163
|
0.00002
|
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu)
|
rs772757427
|
0.00002
|
NM_014915.3(ANKRD26):c.1153A>G (p.Thr385Ala)
|
rs375318218
|
0.00002
|
NM_015046.7(SETX):c.2921T>C (p.Ile974Thr)
|
rs765768857
|
0.00002
|
NM_015046.7(SETX):c.5552G>A (p.Arg1851His)
|
rs137978070
|
0.00002
|
NM_015404.4(WHRN):c.2234G>A (p.Arg745His)
|
rs555619169
|
0.00002
|
NM_015474.4(SAMHD1):c.2T>C (p.Met1Thr)
|
rs923362391
|
0.00002
|
NM_015474.4(SAMHD1):c.841G>A (p.Glu281Lys)
|
rs747675634
|
0.00002
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
NM_015627.3(LDLRAP1):c.710C>T (p.Pro237Leu)
|
rs746229586
|
0.00002
|
NM_015631.6(TCTN3):c.1087C>T (p.Arg363Cys)
|
rs777277759
|
0.00002
|
NM_016151.4(TAOK2):c.2078G>A (p.Arg693Gln)
|
rs755472068
|
0.00002
|
NM_016203.4(PRKAG2):c.106C>T (p.His36Tyr)
|
rs377603922
|
0.00002
|
NM_016203.4(PRKAG2):c.685-5C>A
|
rs779931367
|
0.00002
|
NM_016553.5(NUP62):c.811A>T (p.Thr271Ser)
|
rs763897777
|
0.00002
|
NM_016599.5(MYOZ2):c.76+8T>C
|
rs773231367
|
0.00002
|
NM_016604.4(KDM3B):c.3203C>G (p.Thr1068Arg)
|
rs150418257
|
0.00002
|
NM_016938.5(EFEMP2):c.1016A>T (p.Gln339Leu)
|
rs754118526
|
0.00002
|
NM_016938.5(EFEMP2):c.368-5C>T
|
rs201248112
|
0.00002
|
NM_017617.5(NOTCH1):c.2835C>G (p.Asp945Glu)
|
rs756174213
|
0.00002
|
NM_017617.5(NOTCH1):c.3900C>T (p.Thr1300=)
|
rs201791826
|
0.00002
|
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys)
|
rs147841035
|
0.00002
|
NM_017617.5(NOTCH1):c.4543C>T (p.Leu1515Phe)
|
rs765839822
|
0.00002
|
NM_017721.5(CC2D1A):c.2146C>T (p.Leu716Phe)
|
rs770391486
|
0.00002
|
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser)
|
rs200863680
|
0.00002
|
NM_017777.4(MKS1):c.1678T>C (p.Ter560Gln)
|
rs1286667377
|
0.00002
|
NM_017866.6(TMEM70):c.590A>T (p.Gln197Leu)
|
rs760235714
|
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_018076.5(ODAD2):c.844G>A (p.Val282Ile)
|
rs191594899
|
0.00002
|
NM_018418.5(SPATA7):c.1100A>G (p.Tyr367Cys)
|
rs768788013
|
0.00002
|
NM_018418.5(SPATA7):c.94+5G>A
|
rs371618316
|
0.00002
|
NM_018444.4(PDP1):c.1589T>C (p.Val530Ala)
|
rs1388317775
|
0.00002
|
NM_019112.4(ABCA7):c.2929G>A (p.Gly977Ser)
|
rs758004382
|
0.00002
|
NM_019892.6(INPP5E):c.1133G>A (p.Arg378His)
|
rs758951947
|
0.00002
|
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile)
|
rs750331066
|
0.00002
|
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser)
|
rs375244642
|
0.00002
|
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser)
|
rs202197951
|
0.00002
|
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys)
|
rs767150990
|
0.00002
|
NM_020366.4(RPGRIP1):c.2618A>G (p.His873Arg)
|
rs573418252
|
0.00002
|
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu)
|
rs118203956
|
0.00002
|
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu)
|
rs368377980
|
0.00002
|
NM_020533.3(MCOLN1):c.497G>T (p.Cys166Phe)
|
rs797044826
|
0.00002
|
NM_020549.5(CHAT):c.1300G>A (p.Gly434Ser)
|
rs115964813
|
0.00002
|
NM_020708.5(SLC12A5):c.2876C>T (p.Thr959Met)
|
rs759314815
|
0.00002
|
NM_020822.3(KCNT1):c.2199G>T (p.Glu733Asp)
|
rs772800657
|
0.00002
|
NM_020975.6(RET):c.134C>T (p.Ala45Val)
|
rs763526874
|
0.00002
|
NM_020975.6(RET):c.2041C>G (p.Gln681Glu)
|
rs567241943
|
0.00002
|
NM_020975.6(RET):c.3233C>T (p.Thr1078Met)
|
rs762952212
|
0.00002
|
NM_020975.6(RET):c.625+10G>A
|
rs371974705
|
0.00002
|
NM_021098.3(CACNA1H):c.2071G>A (p.Gly691Ser)
|
rs377664706
|
0.00002
|
NM_021939.4(FKBP10):c.1549G>T (p.Val517Phe)
|
rs112668233
|
0.00002
|
NM_021942.6(TRAPPC11):c.829A>G (p.Lys277Glu)
|
rs368689327
|
0.00002
|
NM_022089.4(ATP13A2):c.1321A>T (p.Ile441Phe)
|
rs772446950
|
0.00002
|
NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp)
|
rs199624796
|
0.00002
|
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn)
|
rs770665588
|
0.00002
|
NM_022132.5(MCCC2):c.1549G>A (p.Gly517Arg)
|
rs979584886
|
0.00002
|
NM_024312.5(GNPTAB):c.2354T>G (p.Leu785Trp)
|
rs144060383
|
0.00002
|
NM_024334.3(TMEM43):c.1000+5G>T
|
rs376589026
|
0.00002
|
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala)
|
rs397517386
|
0.00002
|
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)
|
rs758139447
|
0.00002
|
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)
|
rs193922709
|
0.00002
|
NM_024665.7(TBL1XR1):c.356G>C (p.Ser119Thr)
|
rs756214140
|
0.00002
|
NM_024665.7(TBL1XR1):c.961A>G (p.Thr321Ala)
|
rs753108357
|
0.00002
|
NM_024675.4(PALB2):c.1594C>T (p.Pro532Ser)
|
rs763007754
|
0.00002
|
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu)
|
rs45464991
|
0.00002
|
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)
|
rs369132015
|
0.00002
|
NM_024675.4(PALB2):c.2989G>T (p.Asp997Tyr)
|
rs1555459513
|
0.00002
|
NM_024747.6(HPS6):c.1816C>T (p.Arg606Cys)
|
rs200618225
|
0.00002
|
NM_024809.5(TCTN2):c.1813G>A (p.Glu605Lys)
|
rs768079186
|
0.00002
|
NM_025215.6(PUS1):c.127C>T (p.Pro43Ser)
|
rs928144275
|
0.00002
|
NM_025243.4(SLC19A3):c.607C>T (p.Pro203Ser)
|
rs767146802
|
0.00002
|
NM_030578.4(B9D2):c.484G>T (p.Gly162Cys)
|
rs760322583
|
0.00002
|
NM_030662.4(MAP2K2):c.449T>C (p.Met150Thr)
|
rs1441349097
|
0.00002
|
NM_030662.4(MAP2K2):c.450+14G>A
|
rs397517414
|
0.00002
|
NM_030662.4(MAP2K2):c.491G>T (p.Arg164Met)
|
rs751317148
|
0.00002
|
NM_030662.4(MAP2K2):c.529-10T>C
|
rs551098822
|
0.00002
|
NM_031407.7(HUWE1):c.6149G>A (p.Arg2050Gln)
|
rs782428636
|
0.00002
|
NM_031407.7(HUWE1):c.7204+12G>A
|
rs782423789
|
0.00002
|
NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp)
|
rs587780225
|
0.00002
|
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met)
|
rs28997572
|
0.00002
|
NM_032043.3(BRIP1):c.3188C>T (p.Ser1063Leu)
|
rs575998972
|
0.00002
|
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn)
|
rs587781923
|
0.00002
|
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln)
|
rs587780248
|
0.00002
|
NM_032043.3(BRIP1):c.386C>T (p.Pro129Leu)
|
rs587780831
|
0.00002
|
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser)
|
rs730881623
|
0.00002
|
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu)
|
rs565458815
|
0.00002
|
NM_032043.3(BRIP1):c.638A>G (p.His213Arg)
|
rs376760085
|
0.00002
|
NM_032043.3(BRIP1):c.791G>A (p.Arg264Gln)
|
rs758360637
|
0.00002
|
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met)
|
rs550031006
|
0.00002
|
NM_032043.3(BRIP1):c.820A>G (p.Thr274Ala)
|
rs62620988
|
0.00002
|
NM_032888.4(COL27A1):c.295G>A (p.Ala99Thr)
|
rs748194962
|
0.00002
|
NM_033109.5(PNPT1):c.251C>T (p.Ala84Val)
|
rs145552327
|
0.00002
|
NM_033337.3(CAV3):c.442C>T (p.Arg148Trp)
|
rs730880422
|
0.00002
|
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)
|
rs730880473
|
0.00002
|
NM_033629.6(TREX1):c.383G>A (p.Arg128His)
|
rs751124579
|
0.00002
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
NM_053025.4(MYLK):c.4540A>G (p.Asn1514Asp)
|
rs2059054614
|
0.00002
|
NM_054012.4(ASS1):c.920G>A (p.Arg307His)
|
rs571576756
|
0.00002
|
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg)
|
rs199751308
|
0.00002
|
NM_058216.3(RAD51C):c.705+10A>G
|
rs377586976
|
0.00002
|
NM_058216.3(RAD51C):c.746G>A (p.Arg249His)
|
rs730881925
|
0.00002
|
NM_058246.4(DNAJB6):c.791G>A (p.Arg264Gln)
|
rs969715884
|
0.00002
|
NM_080873.3(ASB11):c.871T>C (p.Cys291Arg)
|
rs772919113
|
0.00002
|
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)
|
rs375733283
|
0.00002
|
NM_130837.3(OPA1):c.838A>G (p.Thr280Ala)
|
rs774668971
|
0.00002
|
NM_133259.4(LRPPRC):c.3350G>A (p.Arg1117Gln)
|
rs369972045
|
0.00002
|
NM_133433.4(NIPBL):c.6988C>G (p.Pro2330Ala)
|
rs764147606
|
0.00002
|
NM_138694.4(PKHD1):c.11310+19C>T
|
rs767496904
|
0.00002
|
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)
|
rs367970695
|
0.00002
|
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly)
|
rs369626030
|
0.00002
|
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro)
|
rs748196998
|
0.00002
|
NM_139076.3(ABRAXAS1):c.662C>T (p.Ser221Leu)
|
rs1415231112
|
0.00002
|
NM_139076.3(ABRAXAS1):c.82G>C (p.Asp28His)
|
rs1262474994
|
0.00002
|
NM_144670.6(A2ML1):c.1438G>A (p.Asp480Asn)
|
rs368024371
|
0.00002
|
NM_144670.6(A2ML1):c.2010C>A (p.Asp670Glu)
|
rs763091079
|
0.00002
|
NM_144670.6(A2ML1):c.2117G>A (p.Gly706Asp)
|
rs772497821
|
0.00002
|
NM_144670.6(A2ML1):c.2276C>T (p.Ala759Val)
|
rs774472456
|
0.00002
|
NM_144670.6(A2ML1):c.269C>T (p.Thr90Ile)
|
rs369174815
|
0.00002
|
NM_144670.6(A2ML1):c.2765-18T>A
|
rs759540195
|
0.00002
|
NM_144670.6(A2ML1):c.3105A>G (p.Thr1035=)
|
rs201335448
|
0.00002
|
NM_144670.6(A2ML1):c.3933+4A>G
|
rs779680238
|
0.00002
|
NM_144670.6(A2ML1):c.409+1G>A
|
rs1454374124
|
0.00002
|
NM_144670.6(A2ML1):c.881C>T (p.Ala294Val)
|
rs775772721
|
0.00002
|
NM_148897.3(SDR9C7):c.1A>G (p.Met1Val)
|
rs749359344
|
0.00002
|
NM_152594.3(SPRED1):c.1282C>T (p.Arg428Cys)
|
rs941091989
|
0.00002
|
NM_152594.3(SPRED1):c.182G>A (p.Arg61His)
|
rs750686148
|
0.00002
|
NM_153033.5(KCTD7):c.614C>T (p.Pro205Leu)
|
rs151338966
|
0.00002
|
NM_153676.4(USH1C):c.266G>A (p.Arg89His)
|
rs749647539
|
0.00002
|
NM_153704.6(TMEM67):c.2132A>C (p.Asp711Ala)
|
rs781383498
|
0.00002
|
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys)
|
rs373584456
|
0.00002
|
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)
|
rs121912493
|
0.00002
|
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys)
|
rs777841827
|
0.00002
|
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)
|
rs1060502216
|
0.00002
|
NM_173483.4(CYP4F22):c.-1-1G>A
|
rs200464692
|
0.00002
|
NM_174878.3(CLRN1):c.571G>A (p.Val191Ile)
|
rs777257033
|
0.00002
|
NM_174934.4(SCN4B):c.594-2A>G
|
rs375535030
|
0.00002
|
NM_174936.4(PCSK9):c.1070G>A (p.Arg357His)
|
rs370507566
|
0.00002
|
NM_174936.4(PCSK9):c.2003G>T (p.Ser668Ile)
|
rs1235101437
|
0.00002
|
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser)
|
rs1063239
|
0.00002
|
NM_176787.5(PIGN):c.787C>A (p.His263Asn)
|
rs376934090
|
0.00002
|
NM_176824.3(BBS7):c.442A>C (p.Asn148His)
|
rs982037757
|
0.00002
|
NM_182961.4(SYNE1):c.13181T>G (p.Leu4394Arg)
|
rs763501028
|
0.00002
|
NM_182961.4(SYNE1):c.14335G>T (p.Ala4779Ser)
|
rs368490158
|
0.00002
|
NM_182961.4(SYNE1):c.18972+4T>C
|
rs774096623
|
0.00002
|
NM_183050.4(BCKDHB):c.79C>T (p.Pro27Ser)
|
rs955755199
|
0.00002
|
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp)
|
rs368790049
|
0.00002
|
NM_198129.4(LAMA3):c.8192C>T (p.Thr2731Met)
|
rs776754771
|
0.00002
|
NM_198252.3(GSN):c.1870A>G (p.Lys624Glu)
|
rs756053203
|
0.00002
|
NM_198407.2(GHSR):c.847C>T (p.Arg283Ter)
|
rs148371213
|
0.00002
|
NM_198578.4(LRRK2):c.3026A>C (p.His1009Pro)
|
rs375146075
|
0.00002
|
NM_198578.4(LRRK2):c.4894G>C (p.Glu1632Gln)
|
rs200580973
|
0.00002
|
NM_198681.4(PLEKHG5):c.-195C>T
|
rs534044053
|
0.00002
|
NM_198994.3(TGM6):c.1337-15T>C
|
rs754392096
|
0.00002
|
NM_199242.3(UNC13D):c.1056-8C>T
|
rs766550767
|
0.00002
|
NM_199242.3(UNC13D):c.1933C>T (p.Arg645Trp)
|
rs768266670
|
0.00002
|
NM_201253.3(CRB1):c.2752A>T (p.Ser918Cys)
|
rs776426313
|
0.00002
|
NM_203447.4(DOCK8):c.2381T>C (p.Leu794Pro)
|
rs769117348
|
0.00002
|
NM_203447.4(DOCK8):c.3254A>G (p.Asn1085Ser)
|
rs527474230
|
0.00002
|
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)
|
rs746071929
|
0.00002
|
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu)
|
rs397518027
|
0.00002
|
NM_207361.6(FREM2):c.6416G>T (p.Gly2139Val)
|
rs371458568
|
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.1238G>A (p.Arg413His)
|
rs1337929727
|
0.00001
|
NM_000016.6(ACADM):c.92G>A (p.Arg31His)
|
rs529894272
|
0.00001
|
NM_000017.4(ACADS):c.460C>T (p.Leu154Phe)
|
rs368500899
|
0.00001
|
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)
|
rs398123079
|
0.00001
|
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr)
|
rs1351976589
|
0.00001
|
NM_000018.4(ACADVL):c.1182+3G>T
|
rs376281637
|
0.00001
|
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)
|
rs766742117
|
0.00001
|
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg)
|
rs370282954
|
0.00001
|
NM_000018.4(ACADVL):c.1678+4A>T
|
rs1057518417
|
0.00001
|
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)
|
rs750043368
|
0.00001
|
NM_000018.4(ACADVL):c.628A>C (p.Thr210Pro)
|
rs775400380
|
0.00001
|
NM_000018.4(ACADVL):c.725C>T (p.Thr242Ile)
|
rs769631635
|
0.00001
|
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)
|
rs202216257
|
0.00001
|
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala)
|
rs398123095
|
0.00001
|
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)
|
rs120074148
|
0.00001
|
NM_000022.4(ADA):c.539T>C (p.Ile180Thr)
|
rs1421855638
|
0.00001
|
NM_000022.4(ADA):c.778G>A (p.Glu260Lys)
|
rs1235719506
|
0.00001
|
NM_000022.4(ADA):c.88T>C (p.Tyr30His)
|
rs775324175
|
0.00001
|
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)
|
rs1046633404
|
0.00001
|
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg)
|
rs1569541033
|
0.00001
|
NM_000033.4(ABCD1):c.1991+8C>T
|
rs2091774199
|
0.00001
|
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)
|
rs782487174
|
0.00001
|
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)
|
rs41281039
|
0.00001
|
NM_000038.6(APC):c.1110G>A (p.Leu370=)
|
rs1439967202
|
0.00001
|
NM_000038.6(APC):c.1286C>T (p.Pro429Leu)
|
rs1003390887
|
0.00001
|
NM_000038.6(APC):c.1290C>T (p.Gly430=)
|
rs730881234
|
0.00001
|
NM_000038.6(APC):c.1291A>G (p.Met431Val)
|
rs730881235
|
0.00001
|
NM_000038.6(APC):c.1321C>A (p.Pro441Thr)
|
rs1444245614
|
0.00001
|
NM_000038.6(APC):c.1441G>A (p.Val481Met)
|
rs587780542
|
0.00001
|
NM_000038.6(APC):c.1478A>G (p.Tyr493Cys)
|
rs770649674
|
0.00001
|
NM_000038.6(APC):c.1483A>G (p.Ile495Val)
|
rs372047677
|
0.00001
|
NM_000038.6(APC):c.1580G>C (p.Arg527Thr)
|
rs1554081889
|
0.00001
|
NM_000038.6(APC):c.1691G>A (p.Arg564Gln)
|
rs747418061
|
0.00001
|
NM_000038.6(APC):c.1811C>G (p.Ala604Gly)
|
rs370955311
|
0.00001
|
NM_000038.6(APC):c.1895T>C (p.Ile632Thr)
|
rs587781360
|
0.00001
|
NM_000038.6(APC):c.212G>A (p.Arg71His)
|
rs750503329
|
0.00001
|
NM_000038.6(APC):c.2414G>A (p.Arg805Gln)
|
rs200593940
|
0.00001
|
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)
|
rs186641437
|
0.00001
|
NM_000038.6(APC):c.2545G>A (p.Asp849Asn)
|
rs752193945
|
0.00001
|
NM_000038.6(APC):c.262C>T (p.Arg88Trp)
|
rs746592911
|
0.00001
|
NM_000038.6(APC):c.2677G>A (p.Glu893Lys)
|
rs199740875
|
0.00001
|
NM_000038.6(APC):c.268A>G (p.Lys90Glu)
|
rs763184444
|
0.00001
|
NM_000038.6(APC):c.2942C>G (p.Pro981Arg)
|
rs587779784
|
0.00001
|
NM_000038.6(APC):c.3128C>T (p.Pro1043Leu)
|
rs1030285956
|
0.00001
|
NM_000038.6(APC):c.3161A>C (p.His1054Pro)
|
rs777538550
|
0.00001
|
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser)
|
rs151286353
|
0.00001
|
NM_000038.6(APC):c.3415A>C (p.Lys1139Gln)
|
rs201550951
|
0.00001
|
NM_000038.6(APC):c.343A>G (p.Met115Val)
|
rs1060503276
|
0.00001
|
NM_000038.6(APC):c.3653C>T (p.Thr1218Met)
|
rs377640390
|
0.00001
|
NM_000038.6(APC):c.4534G>A (p.Asp1512Asn)
|
rs778699501
|
0.00001
|
NM_000038.6(APC):c.4594G>A (p.Asp1532Asn)
|
rs730881251
|
0.00001
|
NM_000038.6(APC):c.468C>G (p.Asp156Glu)
|
rs752627126
|
0.00001
|
NM_000038.6(APC):c.4898C>T (p.Thr1633Ile)
|
rs765215625
|
0.00001
|
NM_000038.6(APC):c.5194A>G (p.Met1732Val)
|
rs752065261
|
0.00001
|
NM_000038.6(APC):c.5365G>C (p.Val1789Leu)
|
rs1554086666
|
0.00001
|
NM_000038.6(APC):c.5386A>G (p.Lys1796Glu)
|
rs367577259
|
0.00001
|
NM_000038.6(APC):c.5759G>A (p.Arg1920Gln)
|
rs587780599
|
0.00001
|
NM_000038.6(APC):c.5866A>G (p.Ile1956Val)
|
rs749597014
|
0.00001
|
NM_000038.6(APC):c.5918G>A (p.Ser1973Asn)
|
rs4987109
|
0.00001
|
NM_000038.6(APC):c.5987A>T (p.Gln1996Leu)
|
rs587779802
|
0.00001
|
NM_000038.6(APC):c.6127A>G (p.Ile2043Val)
|
rs876660233
|
0.00001
|
NM_000038.6(APC):c.6196A>G (p.Arg2066Gly)
|
rs786204043
|
0.00001
|
NM_000038.6(APC):c.6203T>C (p.Met2068Thr)
|
rs863224547
|
0.00001
|
NM_000038.6(APC):c.6446A>C (p.His2149Pro)
|
rs749230730
|
0.00001
|
NM_000038.6(APC):c.646-8T>A
|
rs879254149
|
0.00001
|
NM_000038.6(APC):c.6491G>C (p.Gly2164Ala)
|
rs1490726940
|
0.00001
|
NM_000038.6(APC):c.6640A>G (p.Lys2214Glu)
|
rs1055951639
|
0.00001
|
NM_000038.6(APC):c.6658A>G (p.Asn2220Asp)
|
rs374464049
|
0.00001
|
NM_000038.6(APC):c.6674C>G (p.Ser2225Cys)
|
rs759307079
|
0.00001
|
NM_000038.6(APC):c.6700C>T (p.Pro2234Ser)
|
rs749507584
|
0.00001
|
NM_000038.6(APC):c.688C>T (p.Arg230Cys)
|
rs587779805
|
0.00001
|
NM_000038.6(APC):c.6896C>T (p.Pro2299Leu)
|
rs876658800
|
0.00001
|
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg)
|
rs1057517549
|
0.00001
|
NM_000038.6(APC):c.7012C>T (p.Pro2338Ser)
|
rs571304880
|
0.00001
|
NM_000038.6(APC):c.730-9T>A
|
rs780218375
|
0.00001
|
NM_000038.6(APC):c.7389A>C (p.Glu2463Asp)
|
rs587782127
|
0.00001
|
NM_000038.6(APC):c.7478T>C (p.Leu2493Pro)
|
rs769889352
|
0.00001
|
NM_000038.6(APC):c.749A>G (p.His250Arg)
|
rs774296531
|
0.00001
|
NM_000038.6(APC):c.764A>G (p.His255Arg)
|
rs530670052
|
0.00001
|
NM_000038.6(APC):c.7654A>T (p.Ser2552Cys)
|
rs1554088567
|
0.00001
|
NM_000038.6(APC):c.775C>T (p.Arg259Trp)
|
rs762117133
|
0.00001
|
NM_000038.6(APC):c.7793C>A (p.Thr2598Asn)
|
rs747339588
|
0.00001
|
NM_000038.6(APC):c.7822G>A (p.Ala2608Thr)
|
rs878853471
|
0.00001
|
NM_000038.6(APC):c.7877C>T (p.Thr2626Ile)
|
rs730881268
|
0.00001
|
NM_000038.6(APC):c.8057T>C (p.Val2686Ala)
|
rs757901425
|
0.00001
|
NM_000038.6(APC):c.8182G>A (p.Val2728Met)
|
rs587778045
|
0.00001
|
NM_000038.6(APC):c.8213T>C (p.Ile2738Thr)
|
rs863224552
|
0.00001
|
NM_000038.6(APC):c.8276G>A (p.Arg2759His)
|
rs538289470
|
0.00001
|
NM_000038.6(APC):c.8378G>A (p.Ser2793Asn)
|
rs374853436
|
0.00001
|
NM_000038.6(APC):c.8390G>A (p.Ser2797Asn)
|
rs1060503339
|
0.00001
|
NM_000038.6(APC):c.918T>G (p.Ser306Arg)
|
rs730881231
|
0.00001
|
NM_000038.6(APC):c.989T>C (p.Met330Thr)
|
rs1554079959
|
0.00001
|
NM_000039.3(APOA1):c.275C>T (p.Thr92Ile)
|
rs766422306
|
0.00001
|
NM_000044.6(AR):c.1175C>G (p.Pro392Arg)
|
rs773996740
|
0.00001
|
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr)
|
rs1247117898
|
0.00001
|
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys)
|
rs886062406
|
0.00001
|
NM_000048.4(ASL):c.1141G>C (p.Gly381Arg)
|
rs1301059768
|
0.00001
|
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp)
|
rs727503812
|
0.00001
|
NM_000049.4(ASPA):c.432G>A (p.Lys144=)
|
rs754087904
|
0.00001
|
NM_000049.4(ASPA):c.637A>G (p.Lys213Glu)
|
rs528179434
|
0.00001
|
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg)
|
rs377217076
|
0.00001
|
NM_000051.4(ATM):c.1021G>A (p.Val341Ile)
|
rs200601781
|
0.00001
|
NM_000051.4(ATM):c.1132A>G (p.Ser378Gly)
|
rs587779811
|
0.00001
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
NM_000051.4(ATM):c.1477C>T (p.Arg493Cys)
|
rs750280306
|
0.00001
|
NM_000051.4(ATM):c.1688T>G (p.Met563Arg)
|
rs750815208
|
0.00001
|
NM_000051.4(ATM):c.1741T>G (p.Leu581Val)
|
rs876659822
|
0.00001
|
NM_000051.4(ATM):c.1814A>G (p.His605Arg)
|
rs771877351
|
0.00001
|
NM_000051.4(ATM):c.1838T>G (p.Val613Gly)
|
rs762018538
|
0.00001
|
NM_000051.4(ATM):c.185+10T>C
|
rs1555054317
|
0.00001
|
NM_000051.4(ATM):c.185+8A>G
|
rs753891198
|
0.00001
|
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys)
|
rs546087885
|
0.00001
|
NM_000051.4(ATM):c.2051A>G (p.Gln684Arg)
|
rs772393149
|
0.00001
|
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)
|
rs765965513
|
0.00001
|
NM_000051.4(ATM):c.2168T>C (p.Val723Ala)
|
rs745399310
|
0.00001
|
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys)
|
rs3205809
|
0.00001
|
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg)
|
rs587779819
|
0.00001
|
NM_000051.4(ATM):c.2353C>T (p.Arg785Cys)
|
rs587778065
|
0.00001
|
NM_000051.4(ATM):c.2377A>G (p.Lys793Glu)
|
rs587781583
|
0.00001
|
NM_000051.4(ATM):c.241A>G (p.Asn81Asp)
|
rs758962678
|
0.00001
|
NM_000051.4(ATM):c.2474T>G (p.Phe825Cys)
|
rs1060501648
|
0.00001
|
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)
|
rs370269552
|
0.00001
|
NM_000051.4(ATM):c.2635A>G (p.Ile879Val)
|
rs556598169
|
0.00001
|
NM_000051.4(ATM):c.2655A>T (p.Leu885Phe)
|
rs730881351
|
0.00001
|
NM_000051.4(ATM):c.2720G>T (p.Cys907Phe)
|
rs775371838
|
0.00001
|
NM_000051.4(ATM):c.280A>G (p.Met94Val)
|
rs864622758
|
0.00001
|
NM_000051.4(ATM):c.2838+4A>G
|
rs876659907
|
0.00001
|
NM_000051.4(ATM):c.2889G>A (p.Met963Ile)
|
rs35098825
|
0.00001
|
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser)
|
rs730881354
|
0.00001
|
NM_000051.4(ATM):c.3017T>C (p.Met1006Thr)
|
rs1421074475
|
0.00001
|
NM_000051.4(ATM):c.3231T>A (p.Phe1077Leu)
|
rs971770683
|
0.00001
|
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)
|
rs149911447
|
0.00001
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser)
|
rs730881358
|
0.00001
|
NM_000051.4(ATM):c.3284+7G>C
|
rs371629629
|
0.00001
|
NM_000051.4(ATM):c.3328G>A (p.Ala1110Thr)
|
rs147112946
|
0.00001
|
NM_000051.4(ATM):c.3388G>A (p.Gly1130Arg)
|
rs587781911
|
0.00001
|
NM_000051.4(ATM):c.3407A>G (p.His1136Arg)
|
rs768490475
|
0.00001
|
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu)
|
rs567344545
|
0.00001
|
NM_000051.4(ATM):c.3577-7C>T
|
rs558667657
|
0.00001
|
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys)
|
rs760928285
|
0.00001
|
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro)
|
rs183532834
|
0.00001
|
NM_000051.4(ATM):c.37C>T (p.Arg13Cys)
|
rs141586345
|
0.00001
|
NM_000051.4(ATM):c.3823A>T (p.Ile1275Phe)
|
rs2082378278
|
0.00001
|
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)
|
rs183263185
|
0.00001
|
NM_000051.4(ATM):c.3952G>T (p.Val1318Phe)
|
rs587778074
|
0.00001
|
NM_000051.4(ATM):c.3956A>G (p.Tyr1319Cys)
|
rs1424433891
|
0.00001
|
NM_000051.4(ATM):c.400G>A (p.Gly134Ser)
|
rs2234998
|
0.00001
|
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met)
|
rs587781785
|
0.00001
|
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly)
|
rs751169467
|
0.00001
|
NM_000051.4(ATM):c.4109+10T>C
|
rs1236628481
|
0.00001
|
NM_000051.4(ATM):c.4110-9C>A
|
rs730881367
|
0.00001
|
NM_000051.4(ATM):c.4153G>T (p.Val1385Leu)
|
rs1064794484
|
0.00001
|
NM_000051.4(ATM):c.4256T>C (p.Leu1419Pro)
|
rs1060501622
|
0.00001
|
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys)
|
rs754181173
|
0.00001
|
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)
|
rs779718362
|
0.00001
|
NM_000051.4(ATM):c.4667A>G (p.Tyr1556Cys)
|
rs587782037
|
0.00001
|
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)
|
rs587782506
|
0.00001
|
NM_000051.4(ATM):c.4880A>T (p.Gln1627Leu)
|
rs786203857
|
0.00001
|
NM_000051.4(ATM):c.488A>G (p.Gln163Arg)
|
rs876660598
|
0.00001
|
NM_000051.4(ATM):c.4909+3G>A
|
rs778685122
|
0.00001
|
NM_000051.4(ATM):c.496+3A>G
|
rs876658311
|
0.00001
|
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn)
|
rs748900588
|
0.00001
|
NM_000051.4(ATM):c.5362G>A (p.Gly1788Ser)
|
rs730881373
|
0.00001
|
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe)
|
rs764784077
|
0.00001
|
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)
|
rs758908522
|
0.00001
|
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln)
|
rs587782236
|
0.00001
|
NM_000051.4(ATM):c.5674+6C>G
|
rs780204400
|
0.00001
|
NM_000051.4(ATM):c.5707A>G (p.Lys1903Glu)
|
rs765027485
|
0.00001
|
NM_000051.4(ATM):c.5750G>C (p.Arg1917Thr)
|
rs377289524
|
0.00001
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00001
|
NM_000051.4(ATM):c.5914A>G (p.Lys1972Glu)
|
rs1060501652
|
0.00001
|
NM_000051.4(ATM):c.6025T>C (p.Tyr2009His)
|
rs199586999
|
0.00001
|
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys)
|
rs876658415
|
0.00001
|
NM_000051.4(ATM):c.6068G>A (p.Gly2023Glu)
|
rs1486220915
|
0.00001
|
NM_000051.4(ATM):c.6121A>G (p.Met2041Val)
|
rs759753186
|
0.00001
|
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val)
|
rs755973863
|
0.00001
|
NM_000051.4(ATM):c.6232T>C (p.Ser2078Pro)
|
rs587779854
|
0.00001
|
NM_000051.4(ATM):c.6257A>T (p.Tyr2086Phe)
|
rs730881380
|
0.00001
|
NM_000051.4(ATM):c.6332A>G (p.His2111Arg)
|
rs876658300
|
0.00001
|
NM_000051.4(ATM):c.640T>C (p.Ser214Pro)
|
rs747053710
|
0.00001
|
NM_000051.4(ATM):c.6500A>G (p.Tyr2167Cys)
|
rs768155385
|
0.00001
|
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr)
|
rs878853532
|
0.00001
|
NM_000051.4(ATM):c.655T>C (p.Cys219Arg)
|
rs771685059
|
0.00001
|
NM_000051.4(ATM):c.663-8C>A
|
rs1060501661
|
0.00001
|
NM_000051.4(ATM):c.6652A>C (p.Ser2218Arg)
|
rs749261367
|
0.00001
|
NM_000051.4(ATM):c.6741T>G (p.Ile2247Met)
|
rs876658607
|
0.00001
|
NM_000051.4(ATM):c.6759A>C (p.Lys2253Asn)
|
rs1060501602
|
0.00001
|
NM_000051.4(ATM):c.6784G>C (p.Ala2262Pro)
|
rs587781674
|
0.00001
|
NM_000051.4(ATM):c.6835A>G (p.Lys2279Glu)
|
rs756898113
|
0.00001
|
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val)
|
rs200940211
|
0.00001
|
NM_000051.4(ATM):c.7016G>A (p.Arg2339Lys)
|
rs1305313302
|
0.00001
|
NM_000051.4(ATM):c.7122A>C (p.Glu2374Asp)
|
rs376159946
|
0.00001
|
NM_000051.4(ATM):c.7135C>G (p.Leu2379Val)
|
rs778888033
|
0.00001
|
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala)
|
rs776266049
|
0.00001
|
NM_000051.4(ATM):c.7382G>A (p.Arg2461His)
|
rs768461085
|
0.00001
|
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)
|
rs774281788
|
0.00001
|
NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe)
|
rs753262623
|
0.00001
|
NM_000051.4(ATM):c.7690G>A (p.Ala2564Thr)
|
rs940285361
|
0.00001
|
NM_000051.4(ATM):c.76G>C (p.Glu26Gln)
|
rs730881361
|
0.00001
|
NM_000051.4(ATM):c.7788+7G>A
|
rs749610251
|
0.00001
|
NM_000051.4(ATM):c.78A>T (p.Glu26Asp)
|
rs786202953
|
0.00001
|
NM_000051.4(ATM):c.7996A>G (p.Thr2666Ala)
|
rs745775382
|
0.00001
|
NM_000051.4(ATM):c.8032G>A (p.Gly2678Arg)
|
rs766730487
|
0.00001
|
NM_000051.4(ATM):c.8231A>C (p.Glu2744Ala)
|
rs764003317
|
0.00001
|
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr)
|
rs746475628
|
0.00001
|
NM_000051.4(ATM):c.8370A>C (p.Arg2790Ser)
|
rs1010206130
|
0.00001
|
NM_000051.4(ATM):c.8371T>C (p.Tyr2791His)
|
rs1020805015
|
0.00001
|
NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu)
|
rs938431501
|
0.00001
|
NM_000051.4(ATM):c.8530A>G (p.Ile2844Val)
|
rs756230327
|
0.00001
|
NM_000051.4(ATM):c.8672G>A (p.Gly2891Asp)
|
rs748192003
|
0.00001
|
NM_000051.4(ATM):c.8716G>A (p.Val2906Ile)
|
rs587780643
|
0.00001
|
NM_000051.4(ATM):c.8810T>C (p.Val2937Ala)
|
rs587782149
|
0.00001
|
NM_000051.4(ATM):c.8848G>A (p.Glu2950Lys)
|
rs898091069
|
0.00001
|
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu)
|
rs147695170
|
0.00001
|
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)
|
rs148061139
|
0.00001
|
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)
|
rs373634671
|
0.00001
|
NM_000053.4(ATP7B):c.1142T>G (p.Ile381Ser)
|
rs766943890
|
0.00001
|
NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val)
|
rs770903362
|
0.00001
|
NM_000053.4(ATP7B):c.2138A>G (p.Tyr713Cys)
|
rs756883878
|
0.00001
|
NM_000053.4(ATP7B):c.2858A>C (p.Tyr953Ser)
|
rs767877891
|
0.00001
|
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser)
|
rs750891085
|
0.00001
|
NM_000053.4(ATP7B):c.3637G>A (p.Gly1213Ser)
|
rs745918596
|
0.00001
|
NM_000053.4(ATP7B):c.3700G>T (p.Val1234Phe)
|
rs193922108
|
0.00001
|
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met)
|
rs373748155
|
0.00001
|
NM_000053.4(ATP7B):c.470G>T (p.Cys157Phe)
|
rs551275663
|
0.00001
|
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg)
|
rs115624085
|
0.00001
|
NM_000057.4(BLM):c.1474T>C (p.Phe492Leu)
|
rs764182382
|
0.00001
|
NM_000057.4(BLM):c.2490G>A (p.Thr830=)
|
rs765233032
|
0.00001
|
NM_000057.4(BLM):c.2551C>G (p.Gln851Glu)
|
rs767638712
|
0.00001
|
NM_000057.4(BLM):c.3021G>A (p.Met1007Ile)
|
rs1244649224
|
0.00001
|
NM_000057.4(BLM):c.3451C>T (p.Leu1151Phe)
|
rs1469527799
|
0.00001
|
NM_000057.4(BLM):c.44G>A (p.Arg15His)
|
rs752755503
|
0.00001
|
NM_000059.4(BRCA2):c.10024G>A (p.Glu3342Lys)
|
rs28897761
|
0.00001
|
NM_000059.4(BRCA2):c.1002T>G (p.His334Gln)
|
rs544942885
|
0.00001
|
NM_000059.4(BRCA2):c.10070C>T (p.Thr3357Ile)
|
rs80358388
|
0.00001
|
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly)
|
rs80358389
|
0.00001
|
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)
|
rs397507568
|
0.00001
|
NM_000059.4(BRCA2):c.10238C>A (p.Thr3413Lys)
|
rs730881584
|
0.00001
|
NM_000059.4(BRCA2):c.10249T>C (p.Tyr3417His)
|
rs535952730
|
0.00001
|
NM_000059.4(BRCA2):c.1054T>C (p.Tyr352His)
|
rs542343726
|
0.00001
|
NM_000059.4(BRCA2):c.107C>T (p.Ser36Phe)
|
rs730881554
|
0.00001
|
NM_000059.4(BRCA2):c.1094C>T (p.Pro365Leu)
|
rs730881578
|
0.00001
|
NM_000059.4(BRCA2):c.1097T>C (p.Leu366Ser)
|
rs886040345
|
0.00001
|
NM_000059.4(BRCA2):c.1127T>C (p.Phe376Ser)
|
rs80358410
|
0.00001
|
NM_000059.4(BRCA2):c.1131G>C (p.Glu377Asp)
|
rs777845659
|
0.00001
|
NM_000059.4(BRCA2):c.1153A>C (p.Lys385Gln)
|
rs80358411
|
0.00001
|
NM_000059.4(BRCA2):c.1225G>A (p.Glu409Lys)
|
rs80358416
|
0.00001
|
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg)
|
rs80358417
|
0.00001
|
NM_000059.4(BRCA2):c.1279G>C (p.Asp427His)
|
rs147797288
|
0.00001
|
NM_000059.4(BRCA2):c.1315T>G (p.Phe439Val)
|
rs80358420
|
0.00001
|
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His)
|
rs80358423
|
0.00001
|
NM_000059.4(BRCA2):c.1381G>A (p.Glu461Lys)
|
rs587782159
|
0.00001
|
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)
|
rs80358439
|
0.00001
|
NM_000059.4(BRCA2):c.1558T>G (p.Phe520Val)
|
rs80358441
|
0.00001
|
NM_000059.4(BRCA2):c.1600G>A (p.Glu534Lys)
|
rs276174810
|
0.00001
|
NM_000059.4(BRCA2):c.1705C>A (p.Gln569Lys)
|
rs397507274
|
0.00001
|
NM_000059.4(BRCA2):c.1742C>T (p.Ser581Phe)
|
rs587778118
|
0.00001
|
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys)
|
rs80358459
|
0.00001
|
NM_000059.4(BRCA2):c.1775A>G (p.Tyr592Cys)
|
rs772156559
|
0.00001
|
NM_000059.4(BRCA2):c.1805G>T (p.Gly602Val)
|
rs398122732
|
0.00001
|
NM_000059.4(BRCA2):c.181C>G (p.Leu61Val)
|
rs771011731
|
0.00001
|
NM_000059.4(BRCA2):c.1949A>G (p.Asn650Ser)
|
rs773619645
|
0.00001
|
NM_000059.4(BRCA2):c.1966A>G (p.Thr656Ala)
|
rs398122736
|
0.00001
|
NM_000059.4(BRCA2):c.2014A>G (p.Arg672Gly)
|
rs587781647
|
0.00001
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser)
|
rs276174818
|
0.00001
|
NM_000059.4(BRCA2):c.2173A>G (p.Lys725Glu)
|
rs431825294
|
0.00001
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
NM_000059.4(BRCA2):c.2287C>G (p.His763Asp)
|
rs863224585
|
0.00001
|
NM_000059.4(BRCA2):c.2290G>C (p.Glu764Gln)
|
rs587782158
|
0.00001
|
NM_000059.4(BRCA2):c.2330A>G (p.Asp777Gly)
|
rs780489283
|
0.00001
|
NM_000059.4(BRCA2):c.2348T>G (p.Val783Gly)
|
rs768143929
|
0.00001
|
NM_000059.4(BRCA2):c.2380A>G (p.Met794Val)
|
rs786203635
|
0.00001
|
NM_000059.4(BRCA2):c.240A>G (p.Ile80Met)
|
rs80358505
|
0.00001
|
NM_000059.4(BRCA2):c.2443A>G (p.Met815Val)
|
rs786203814
|
0.00001
|
NM_000059.4(BRCA2):c.2451G>T (p.Lys817Asn)
|
rs767686668
|
0.00001
|
NM_000059.4(BRCA2):c.2471T>C (p.Leu824Ser)
|
rs397507631
|
0.00001
|
NM_000059.4(BRCA2):c.2491G>A (p.Val831Ile)
|
rs397507287
|
0.00001
|
NM_000059.4(BRCA2):c.2507C>T (p.Pro836Leu)
|
rs397507288
|
0.00001
|
NM_000059.4(BRCA2):c.2524G>C (p.Val842Leu)
|
rs587782454
|
0.00001
|
NM_000059.4(BRCA2):c.2554A>C (p.Asn852His)
|
rs775531301
|
0.00001
|
NM_000059.4(BRCA2):c.2633A>T (p.Asp878Val)
|
rs765618026
|
0.00001
|
NM_000059.4(BRCA2):c.2729A>G (p.His910Arg)
|
rs760792501
|
0.00001
|
NM_000059.4(BRCA2):c.2755G>A (p.Glu919Lys)
|
rs431825298
|
0.00001
|
NM_000059.4(BRCA2):c.2837A>G (p.Asp946Gly)
|
rs55972907
|
0.00001
|
NM_000059.4(BRCA2):c.2841G>T (p.Leu947Phe)
|
rs769971508
|
0.00001
|
NM_000059.4(BRCA2):c.2881C>G (p.Gln961Glu)
|
rs80358538
|
0.00001
|
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)
|
rs397507296
|
0.00001
|
NM_000059.4(BRCA2):c.2920G>A (p.Asp974Asn)
|
rs539613324
|
0.00001
|
NM_000059.4(BRCA2):c.2980G>A (p.Ala994Thr)
|
rs587782223
|
0.00001
|
NM_000059.4(BRCA2):c.298A>G (p.Lys100Glu)
|
rs80358546
|
0.00001
|
NM_000059.4(BRCA2):c.3005A>C (p.Asn1002Thr)
|
rs730881518
|
0.00001
|
NM_000059.4(BRCA2):c.3007C>G (p.His1003Asp)
|
rs878853565
|
0.00001
|
NM_000059.4(BRCA2):c.3100A>G (p.Ile1034Val)
|
rs755227053
|
0.00001
|
NM_000059.4(BRCA2):c.3101T>C (p.Ile1034Thr)
|
rs545974734
|
0.00001
|
NM_000059.4(BRCA2):c.316+18G>A
|
rs760439858
|
0.00001
|
NM_000059.4(BRCA2):c.3188A>G (p.Gln1063Arg)
|
rs775030825
|
0.00001
|
NM_000059.4(BRCA2):c.3206C>T (p.Ser1069Phe)
|
rs80358563
|
0.00001
|
NM_000059.4(BRCA2):c.3238G>C (p.Asp1080His)
|
rs1064794159
|
0.00001
|
NM_000059.4(BRCA2):c.3245A>G (p.Lys1082Arg)
|
rs80358569
|
0.00001
|
NM_000059.4(BRCA2):c.3251G>A (p.Ser1084Asn)
|
rs543748012
|
0.00001
|
NM_000059.4(BRCA2):c.3302A>G (p.His1101Arg)
|
rs398122761
|
0.00001
|
NM_000059.4(BRCA2):c.3330A>C (p.Glu1110Asp)
|
rs369294255
|
0.00001
|
NM_000059.4(BRCA2):c.3344C>G (p.Ser1115Cys)
|
rs879255448
|
0.00001
|
NM_000059.4(BRCA2):c.343A>G (p.Lys115Glu)
|
rs56242644
|
0.00001
|
NM_000059.4(BRCA2):c.3451A>G (p.Ile1151Val)
|
rs80358591
|
0.00001
|
NM_000059.4(BRCA2):c.3453C>G (p.Ile1151Met)
|
rs80358592
|
0.00001
|
NM_000059.4(BRCA2):c.3482A>G (p.Asp1161Gly)
|
rs1060502458
|
0.00001
|
NM_000059.4(BRCA2):c.34T>G (p.Phe12Val)
|
rs80358597
|
0.00001
|
NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val)
|
rs202230438
|
0.00001
|
NM_000059.4(BRCA2):c.3640G>A (p.Val1214Met)
|
rs1015087797
|
0.00001
|
NM_000059.4(BRCA2):c.3661T>C (p.Ser1221Pro)
|
rs80358611
|
0.00001
|
NM_000059.4(BRCA2):c.3667C>T (p.His1223Tyr)
|
rs786203756
|
0.00001
|
NM_000059.4(BRCA2):c.3901A>T (p.Thr1301Ser)
|
rs779899032
|
0.00001
|
NM_000059.4(BRCA2):c.3966C>G (p.Asn1322Lys)
|
rs80358647
|
0.00001
|
NM_000059.4(BRCA2):c.4105T>C (p.Ser1369Pro)
|
rs138567364
|
0.00001
|
NM_000059.4(BRCA2):c.413G>T (p.Cys138Phe)
|
rs397507324
|
0.00001
|
NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser)
|
rs431825318
|
0.00001
|
NM_000059.4(BRCA2):c.4244A>G (p.Glu1415Gly)
|
rs1060502399
|
0.00001
|
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn)
|
rs397507713
|
0.00001
|
NM_000059.4(BRCA2):c.428C>G (p.Pro143Arg)
|
rs587782795
|
0.00001
|
NM_000059.4(BRCA2):c.4316C>A (p.Ala1439Asp)
|
rs80358667
|
0.00001
|
NM_000059.4(BRCA2):c.4344T>G (p.Asn1448Lys)
|
rs1064793724
|
0.00001
|
NM_000059.4(BRCA2):c.4372C>T (p.His1458Tyr)
|
rs80358672
|
0.00001
|
NM_000059.4(BRCA2):c.442T>C (p.Cys148Arg)
|
rs80358677
|
0.00001
|
NM_000059.4(BRCA2):c.4436G>C (p.Ser1479Thr)
|
rs80358678
|
0.00001
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
rs80358679
|
0.00001
|
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)
|
rs80358684
|
0.00001
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
NM_000059.4(BRCA2):c.4567G>C (p.Gly1523Arg)
|
rs587781418
|
0.00001
|
NM_000059.4(BRCA2):c.4622A>G (p.Lys1541Arg)
|
rs747899091
|
0.00001
|
NM_000059.4(BRCA2):c.4672A>C (p.Ser1558Arg)
|
rs587782822
|
0.00001
|
NM_000059.4(BRCA2):c.4695G>T (p.Lys1565Asn)
|
rs587782522
|
0.00001
|
NM_000059.4(BRCA2):c.4747A>G (p.Ile1583Val)
|
rs56072130
|
0.00001
|
NM_000059.4(BRCA2):c.4747A>T (p.Ile1583Phe)
|
rs56072130
|
0.00001
|
NM_000059.4(BRCA2):c.4759G>A (p.Ala1587Thr)
|
rs56137239
|
0.00001
|
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn)
|
rs397507341
|
0.00001
|
NM_000059.4(BRCA2):c.4861T>G (p.Cys1621Gly)
|
rs1060502419
|
0.00001
|
NM_000059.4(BRCA2):c.489T>G (p.Ser163Arg)
|
rs398122787
|
0.00001
|
NM_000059.4(BRCA2):c.4987G>C (p.Val1663Leu)
|
rs587781763
|
0.00001
|
NM_000059.4(BRCA2):c.5045G>A (p.Ser1682Asn)
|
rs41293493
|
0.00001
|
NM_000059.4(BRCA2):c.5144T>C (p.Leu1715Ser)
|
rs1064793634
|
0.00001
|
NM_000059.4(BRCA2):c.5153A>G (p.Asn1718Ser)
|
rs80358739
|
0.00001
|
NM_000059.4(BRCA2):c.516+17G>C
|
rs765435155
|
0.00001
|
NM_000059.4(BRCA2):c.517-17A>G
|
rs1060504603
|
0.00001
|
NM_000059.4(BRCA2):c.5186A>C (p.Lys1729Thr)
|
rs772860507
|
0.00001
|
NM_000059.4(BRCA2):c.5200G>A (p.Glu1734Lys)
|
rs786202543
|
0.00001
|
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)
|
rs756463217
|
0.00001
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
NM_000059.4(BRCA2):c.5272A>G (p.Asn1758Asp)
|
rs80358750
|
0.00001
|
NM_000059.4(BRCA2):c.5344C>A (p.Gln1782Lys)
|
rs80358757
|
0.00001
|
NM_000059.4(BRCA2):c.5373A>G (p.Ile1791Met)
|
rs1060502406
|
0.00001
|
NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe)
|
rs779967765
|
0.00001
|
NM_000059.4(BRCA2):c.5536A>G (p.Ile1846Val)
|
rs587782375
|
0.00001
|
NM_000059.4(BRCA2):c.5590G>A (p.Asp1864Asn)
|
rs587781536
|
0.00001
|
NM_000059.4(BRCA2):c.5663A>G (p.Lys1888Arg)
|
rs80358791
|
0.00001
|
NM_000059.4(BRCA2):c.5683G>A (p.Glu1895Lys)
|
rs146351301
|
0.00001
|
NM_000059.4(BRCA2):c.5693A>G (p.Asp1898Gly)
|
rs876658786
|
0.00001
|
NM_000059.4(BRCA2):c.5714A>G (p.His1905Arg)
|
rs80358796
|
0.00001
|
NM_000059.4(BRCA2):c.5782G>A (p.Glu1928Lys)
|
rs56253082
|
0.00001
|
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn)
|
rs80358820
|
0.00001
|
NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr)
|
rs1060502377
|
0.00001
|
NM_000059.4(BRCA2):c.5903C>T (p.Ser1968Leu)
|
rs587782597
|
0.00001
|
NM_000059.4(BRCA2):c.5961G>T (p.Gln1987His)
|
rs387907575
|
0.00001
|
NM_000059.4(BRCA2):c.6037A>G (p.Lys2013Glu)
|
rs80358840
|
0.00001
|
NM_000059.4(BRCA2):c.6115T>A (p.Leu2039Ile)
|
rs370026879
|
0.00001
|
NM_000059.4(BRCA2):c.6117A>C (p.Leu2039Phe)
|
rs1566233950
|
0.00001
|
NM_000059.4(BRCA2):c.6121T>C (p.Ser2041Pro)
|
rs1160083526
|
0.00001
|
NM_000059.4(BRCA2):c.619A>G (p.Thr207Ala)
|
rs80358858
|
0.00001
|
NM_000059.4(BRCA2):c.620C>T (p.Thr207Ile)
|
rs41293471
|
0.00001
|
NM_000059.4(BRCA2):c.6271A>C (p.Ser2091Arg)
|
rs398122550
|
0.00001
|
NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys)
|
rs397507838
|
0.00001
|
NM_000059.4(BRCA2):c.6287C>G (p.Pro2096Arg)
|
rs587781396
|
0.00001
|
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del)
|
rs80359581
|
0.00001
|
NM_000059.4(BRCA2):c.6403A>C (p.Asn2135His)
|
rs80358876
|
0.00001
|
NM_000059.4(BRCA2):c.6413T>A (p.Val2138Asp)
|
rs80358877
|
0.00001
|
NM_000059.4(BRCA2):c.6442T>G (p.Ser2148Ala)
|
rs1314863621
|
0.00001
|
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)
|
rs80358880
|
0.00001
|
NM_000059.4(BRCA2):c.6450A>C (p.Lys2150Asn)
|
rs876658814
|
0.00001
|
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu)
|
rs276174873
|
0.00001
|
NM_000059.4(BRCA2):c.6467C>T (p.Ser2156Phe)
|
rs765575482
|
0.00001
|
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)
|
rs398122560
|
0.00001
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
rs431825344
|
0.00001
|
NM_000059.4(BRCA2):c.6638C>T (p.Ser2213Phe)
|
rs75925841
|
0.00001
|
NM_000059.4(BRCA2):c.6641C>T (p.Thr2214Ile)
|
rs1566235063
|
0.00001
|
NM_000059.4(BRCA2):c.6646T>G (p.Ser2216Ala)
|
rs918816907
|
0.00001
|
NM_000059.4(BRCA2):c.6698C>A (p.Ala2233Asp)
|
rs41293501
|
0.00001
|
NM_000059.4(BRCA2):c.67+13T>C
|
rs1555280121
|
0.00001
|
NM_000059.4(BRCA2):c.67+18A>G
|
rs1057524048
|
0.00001
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)
|
rs80358904
|
0.00001
|
NM_000059.4(BRCA2):c.6806T>C (p.Ile2269Thr)
|
rs398122564
|
0.00001
|
NM_000059.4(BRCA2):c.6815G>A (p.Arg2272Lys)
|
rs199522406
|
0.00001
|
NM_000059.4(BRCA2):c.682-13A>G
|
rs81002888
|
0.00001
|
NM_000059.4(BRCA2):c.6842-11T>A
|
rs81002877
|
0.00001
|
NM_000059.4(BRCA2):c.6875A>G (p.Glu2292Gly)
|
rs397507378
|
0.00001
|
NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys)
|
rs80358914
|
0.00001
|
NM_000059.4(BRCA2):c.694T>C (p.Tyr232His)
|
rs398122572
|
0.00001
|
NM_000059.4(BRCA2):c.6966G>T (p.Met2322Ile)
|
rs80358924
|
0.00001
|
NM_000059.4(BRCA2):c.6973G>C (p.Val2325Leu)
|
rs757647065
|
0.00001
|
NM_000059.4(BRCA2):c.6991A>G (p.Thr2331Ala)
|
rs80358926
|
0.00001
|
NM_000059.4(BRCA2):c.7001C>T (p.Pro2334Leu)
|
rs748816192
|
0.00001
|
NM_000059.4(BRCA2):c.7005T>C (p.Phe2335=)
|
rs1261716229
|
0.00001
|
NM_000059.4(BRCA2):c.7022G>A (p.Arg2341His)
|
rs786202839
|
0.00001
|
NM_000059.4(BRCA2):c.7042A>C (p.Asn2348His)
|
rs55742659
|
0.00001
|
NM_000059.4(BRCA2):c.7066T>G (p.Phe2356Val)
|
rs863224596
|
0.00001
|
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys)
|
rs80358940
|
0.00001
|
NM_000059.4(BRCA2):c.714_716dup (p.Glu238_Ser239insArg)
|
rs80359640
|
0.00001
|
NM_000059.4(BRCA2):c.7349A>T (p.Asn2450Ile)
|
rs761505767
|
0.00001
|
NM_000059.4(BRCA2):c.7390C>G (p.Gln2464Glu)
|
rs572945276
|
0.00001
|
NM_000059.4(BRCA2):c.7394C>T (p.Ala2465Val)
|
rs80358960
|
0.00001
|
NM_000059.4(BRCA2):c.7402G>A (p.Val2468Ile)
|
rs730881553
|
0.00001
|
NM_000059.4(BRCA2):c.7411A>G (p.Thr2471Ala)
|
rs771087264
|
0.00001
|
NM_000059.4(BRCA2):c.7438T>G (p.Leu2480Val)
|
rs80358965
|
0.00001
|
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly)
|
rs80358966
|
0.00001
|
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly)
|
rs80358970
|
0.00001
|
NM_000059.4(BRCA2):c.7472A>G (p.Gln2491Arg)
|
rs185012573
|
0.00001
|
NM_000059.4(BRCA2):c.7484T>C (p.Ile2495Thr)
|
rs80358974
|
0.00001
|
NM_000059.4(BRCA2):c.7540A>G (p.Lys2514Glu)
|
rs864622624
|
0.00001
|
NM_000059.4(BRCA2):c.7585G>A (p.Gly2529Ser)
|
rs398122585
|
0.00001
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
NM_000059.4(BRCA2):c.7637C>T (p.Ser2546Phe)
|
rs398122586
|
0.00001
|
NM_000059.4(BRCA2):c.7706G>A (p.Gly2569Asp)
|
rs587781943
|
0.00001
|
NM_000059.4(BRCA2):c.7739A>G (p.Gln2580Arg)
|
rs1064795508
|
0.00001
|
NM_000059.4(BRCA2):c.7769C>G (p.Ser2590Cys)
|
rs786202615
|
0.00001
|
NM_000059.4(BRCA2):c.7805+8A>G
|
rs81002847
|
0.00001
|
NM_000059.4(BRCA2):c.7806-6del
|
rs764374133
|
0.00001
|
NM_000059.4(BRCA2):c.784G>A (p.Ala262Thr)
|
rs397507393
|
0.00001
|
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys)
|
rs431825358
|
0.00001
|
NM_000059.4(BRCA2):c.7882A>G (p.Ile2628Val)
|
rs1483187442
|
0.00001
|
NM_000059.4(BRCA2):c.7916C>T (p.Pro2639Leu)
|
rs774723315
|
0.00001
|
NM_000059.4(BRCA2):c.7930A>G (p.Asn2644Asp)
|
rs431825360
|
0.00001
|
NM_000059.4(BRCA2):c.7931A>G (p.Asn2644Ser)
|
rs80359020
|
0.00001
|
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)
|
rs80359800
|
0.00001
|
NM_000059.4(BRCA2):c.7A>G (p.Ile3Val)
|
rs770479195
|
0.00001
|
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg)
|
rs587782519
|
0.00001
|
NM_000059.4(BRCA2):c.8119A>G (p.Lys2707Glu)
|
rs1046479731
|
0.00001
|
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg)
|
rs786204274
|
0.00001
|
NM_000059.4(BRCA2):c.8183T>C (p.Val2728Ala)
|
rs587781719
|
0.00001
|
NM_000059.4(BRCA2):c.8186A>G (p.Lys2729Arg)
|
rs755946384
|
0.00001
|
NM_000059.4(BRCA2):c.825A>T (p.Lys275Asn)
|
rs397507399
|
0.00001
|
NM_000059.4(BRCA2):c.8262T>G (p.His2754Gln)
|
rs587776472
|
0.00001
|
NM_000059.4(BRCA2):c.8293T>G (p.Cys2765Gly)
|
rs768247528
|
0.00001
|
NM_000059.4(BRCA2):c.8300C>G (p.Pro2767Arg)
|
rs397507401
|
0.00001
|
NM_000059.4(BRCA2):c.8331+14C>T
|
rs1287378096
|
0.00001
|
NM_000059.4(BRCA2):c.8332-6G>T
|
rs587780872
|
0.00001
|
NM_000059.4(BRCA2):c.8432A>G (p.Asp2811Gly)
|
rs80359090
|
0.00001
|
NM_000059.4(BRCA2):c.8435G>A (p.Gly2812Glu)
|
rs80359091
|
0.00001
|
NM_000059.4(BRCA2):c.8440A>G (p.Asn2814Asp)
|
rs876660312
|
0.00001
|
NM_000059.4(BRCA2):c.8450G>T (p.Cys2817Phe)
|
rs786201992
|
0.00001
|
NM_000059.4(BRCA2):c.8452G>A (p.Val2818Ile)
|
rs80359094
|
0.00001
|
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val)
|
rs80359097
|
0.00001
|
NM_000059.4(BRCA2):c.8488-20del
|
rs1566249132
|
0.00001
|
NM_000059.4(BRCA2):c.8518A>G (p.Ile2840Val)
|
rs80359103
|
0.00001
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
NM_000059.4(BRCA2):c.8539G>A (p.Glu2847Lys)
|
rs80359108
|
0.00001
|
NM_000059.4(BRCA2):c.8630A>G (p.Glu2877Gly)
|
rs1064794960
|
0.00001
|
NM_000059.4(BRCA2):c.8632+14T>C
|
rs730881596
|
0.00001
|
NM_000059.4(BRCA2):c.8708A>G (p.Glu2903Gly)
|
rs730881566
|
0.00001
|
NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly)
|
rs80359130
|
0.00001
|
NM_000059.4(BRCA2):c.8755-17A>G
|
rs431825370
|
0.00001
|
NM_000059.4(BRCA2):c.8765G>A (p.Ser2922Asn)
|
rs730881567
|
0.00001
|
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala)
|
rs151174152
|
0.00001
|
NM_000059.4(BRCA2):c.8902A>G (p.Thr2968Ala)
|
rs587782021
|
0.00001
|
NM_000059.4(BRCA2):c.8915T>G (p.Leu2972Trp)
|
rs80359142
|
0.00001
|
NM_000059.4(BRCA2):c.902A>G (p.Asp301Gly)
|
rs730881508
|
0.00001
|
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro)
|
rs80359155
|
0.00001
|
NM_000059.4(BRCA2):c.9101A>G (p.Gln3034Arg)
|
rs80359164
|
0.00001
|
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu)
|
rs202155613
|
0.00001
|
NM_000059.4(BRCA2):c.9118-18T>C
|
rs1555288527
|
0.00001
|
NM_000059.4(BRCA2):c.9249A>T (p.Lys3083Asn)
|
rs80359191
|
0.00001
|
NM_000059.4(BRCA2):c.9257-20T>G
|
rs1223021680
|
0.00001
|
NM_000059.4(BRCA2):c.9319A>G (p.Ile3107Val)
|
rs879255336
|
0.00001
|
NM_000059.4(BRCA2):c.9338T>C (p.Ile3113Thr)
|
rs770003991
|
0.00001
|
NM_000059.4(BRCA2):c.938C>T (p.Ser313Phe)
|
rs397507428
|
0.00001
|
NM_000059.4(BRCA2):c.9472A>G (p.Thr3158Ala)
|
rs786204284
|
0.00001
|
NM_000059.4(BRCA2):c.9477C>A (p.Phe3159Leu)
|
rs80359221
|
0.00001
|
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala)
|
rs587782568
|
0.00001
|
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)
|
rs876658365
|
0.00001
|
NM_000059.4(BRCA2):c.9547A>G (p.Ile3183Val)
|
rs377123889
|
0.00001
|
NM_000059.4(BRCA2):c.9560A>G (p.Asn3187Ser)
|
rs1329182873
|
0.00001
|
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala)
|
rs80359227
|
0.00001
|
NM_000059.4(BRCA2):c.9690A>T (p.Leu3230Phe)
|
rs80359238
|
0.00001
|
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr)
|
rs397507435
|
0.00001
|
NM_000059.4(BRCA2):c.9812T>C (p.Leu3271Ser)
|
rs397507436
|
0.00001
|
NM_000059.4(BRCA2):c.9839C>A (p.Pro3280His)
|
rs80359246
|
0.00001
|
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys)
|
rs148895719
|
0.00001
|
NM_000070.3(CAPN3):c.398C>T (p.Ala133Val)
|
rs774685118
|
0.00001
|
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)
|
rs1555420652
|
0.00001
|
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His)
|
rs149591108
|
0.00001
|
NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp)
|
rs200580015
|
0.00001
|
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)
|
rs121964971
|
0.00001
|
NM_000075.4(CDK4):c.155G>A (p.Ser52Asn)
|
rs760719270
|
0.00001
|
NM_000075.4(CDK4):c.219-7T>C
|
rs543798269
|
0.00001
|
NM_000075.4(CDK4):c.346A>G (p.Thr116Ala)
|
rs2063052002
|
0.00001
|
NM_000075.4(CDK4):c.352A>C (p.Lys118Gln)
|
rs772689692
|
0.00001
|
NM_000075.4(CDK4):c.605G>C (p.Cys202Ser)
|
rs1424791303
|
0.00001
|
NM_000075.4(CDK4):c.629G>A (p.Arg210Gln)
|
rs373619077
|
0.00001
|
NM_000075.4(CDK4):c.841C>G (p.His281Asp)
|
rs876659522
|
0.00001
|
NM_000077.5(CDKN2A):c.106G>A (p.Ala36Thr)
|
rs777948908
|
0.00001
|
NM_000077.5(CDKN2A):c.320G>A (p.Arg107His)
|
rs370823171
|
0.00001
|
NM_000077.5(CDKN2A):c.343G>T (p.Val115Leu)
|
rs779913365
|
0.00001
|
NM_000077.5(CDKN2A):c.375T>A (p.Asp125Glu)
|
rs1290057397
|
0.00001
|
NM_000077.5(CDKN2A):c.412A>G (p.Arg138Gly)
|
rs145012438
|
0.00001
|
NM_000077.5(CDKN2A):c.416G>A (p.Gly139Asp)
|
rs149937815
|
0.00001
|
NM_000077.5(CDKN2A):c.427G>A (p.Ala143Thr)
|
rs754195015
|
0.00001
|
NM_000081.4(LYST):c.3250G>A (p.Ala1084Thr)
|
rs376496670
|
0.00001
|
NM_000081.4(LYST):c.5578A>G (p.Met1860Val)
|
rs368738466
|
0.00001
|
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His)
|
rs763850295
|
0.00001
|
NM_000083.3(CLCN1):c.1976C>T (p.Ala659Val)
|
rs1336908700
|
0.00001
|
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp)
|
rs746691295
|
0.00001
|
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val)
|
rs918420911
|
0.00001
|
NM_000090.4(COL3A1):c.1050+7_1050+8del
|
rs759415640
|
0.00001
|
NM_000090.4(COL3A1):c.1455+12A>G
|
rs752647323
|
0.00001
|
NM_000090.4(COL3A1):c.178G>A (p.Val60Ile)
|
rs762028131
|
0.00001
|
NM_000090.4(COL3A1):c.1972G>A (p.Glu658Lys)
|
rs189846410
|
0.00001
|
NM_000090.4(COL3A1):c.3071G>A (p.Arg1024Gln)
|
rs1484867480
|
0.00001
|
NM_000090.4(COL3A1):c.3824-11T>G
|
rs766096022
|
0.00001
|
NM_000090.4(COL3A1):c.4254+10A>G
|
rs1045801346
|
0.00001
|
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly)
|
rs1415901923
|
0.00001
|
NM_000090.4(COL3A1):c.4300C>T (p.Arg1434Cys)
|
rs747324731
|
0.00001
|
NM_000090.4(COL3A1):c.745-7T>C
|
rs776306752
|
0.00001
|
NM_000091.5(COL4A3):c.1367_1369del (p.Tyr456del)
|
rs762420854
|
0.00001
|
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg)
|
rs1293137291
|
0.00001
|
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg)
|
rs766208466
|
0.00001
|
NM_000091.5(COL4A3):c.527C>G (p.Pro176Arg)
|
rs759869958
|
0.00001
|
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met)
|
rs573527081
|
0.00001
|
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp)
|
rs377511303
|
0.00001
|
NM_000092.5(COL4A4):c.485C>T (p.Pro162Leu)
|
rs901711159
|
0.00001
|
NM_000093.5(COL5A1):c.2485-11C>T
|
rs756350498
|
0.00001
|
NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr)
|
rs377138881
|
0.00001
|
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu)
|
rs1233025207
|
0.00001
|
NM_000094.4(COL7A1):c.8167C>T (p.Pro2723Ser)
|
rs774540354
|
0.00001
|
NM_000098.3(CPT2):c.1115A>G (p.His372Arg)
|
rs1212235186
|
0.00001
|
NM_000098.3(CPT2):c.1493G>A (p.Arg498His)
|
rs776645157
|
0.00001
|
NM_000098.3(CPT2):c.1751A>G (p.His584Arg)
|
rs750604350
|
0.00001
|
NM_000098.3(CPT2):c.673C>T (p.Arg225Cys)
|
rs759733220
|
0.00001
|
NM_000104.4(CYP1B1):c.277C>T (p.Pro93Ser)
|
rs1156997078
|
0.00001
|
NM_000110.4(DPYD):c.3034G>T (p.Glu1012Ter)
|
rs761584058
|
0.00001
|
NM_000110.4(DPYD):c.36C>G (p.Ile12Met)
|
rs376273539
|
0.00001
|
NM_000110.4(DPYD):c.632A>G (p.Tyr211Cys)
|
rs72549307
|
0.00001
|
NM_000123.4(ERCC5):c.2383G>A (p.Ala795Thr)
|
rs751772171
|
0.00001
|
NM_000123.4(ERCC5):c.2556A>G (p.Ile852Met)
|
rs780704053
|
0.00001
|
NM_000124.4(ERCC6):c.-14-2A>G
|
rs760663515
|
0.00001
|
NM_000124.4(ERCC6):c.899C>T (p.Ala300Val)
|
rs373471724
|
0.00001
|
NM_000128.4(F11):c.1103G>C (p.Gly368Ala)
|
rs748926718
|
0.00001
|
NM_000128.4(F11):c.1693G>A (p.Glu565Lys)
|
rs281875275
|
0.00001
|
NM_000128.4(F11):c.365G>A (p.Gly122Asp)
|
rs369650561
|
0.00001
|
NM_000132.4(F8):c.989A>G (p.His330Arg)
|
rs782498015
|
0.00001
|
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg)
|
rs777736014
|
0.00001
|
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)
|
rs748713183
|
0.00001
|
NM_000136.3(FANCC):c.1048A>G (p.Met350Val)
|
rs863224607
|
0.00001
|
NM_000136.3(FANCC):c.436_438del (p.Tyr146del)
|
rs761347179
|
0.00001
|
NM_000136.3(FANCC):c.46A>G (p.Met16Val)
|
rs1390412870
|
0.00001
|
NM_000136.3(FANCC):c.521+10_521+13del
|
rs1372625836
|
0.00001
|
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr)
|
rs767302089
|
0.00001
|
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg)
|
rs730881717
|
0.00001
|
NM_000136.3(FANCC):c.835T>A (p.Ser279Thr)
|
rs757190154
|
0.00001
|
NM_000137.4(FAH):c.742G>A (p.Gly248Arg)
|
rs774861939
|
0.00001
|
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys)
|
rs749133312
|
0.00001
|
NM_000138.5(FBN1):c.1586G>A (p.Arg529Gln)
|
rs1441536824
|
0.00001
|
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile)
|
rs1485432119
|
0.00001
|
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp)
|
rs752999845
|
0.00001
|
NM_000138.5(FBN1):c.1634G>A (p.Arg545His)
|
rs193922179
|
0.00001
|
NM_000138.5(FBN1):c.2106G>T (p.Gln702His)
|
rs778835898
|
0.00001
|
NM_000138.5(FBN1):c.2113+17A>G
|
rs1246446564
|
0.00001
|
NM_000138.5(FBN1):c.2113+19A>T
|
rs541501178
|
0.00001
|
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg)
|
rs778951277
|
0.00001
|
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val)
|
rs149681175
|
0.00001
|
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys)
|
rs548296552
|
0.00001
|
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)
|
rs1439487763
|
0.00001
|
NM_000138.5(FBN1):c.3464-3C>T
|
rs770992241
|
0.00001
|
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr)
|
rs755375255
|
0.00001
|
NM_000138.5(FBN1):c.365G>A (p.Arg122His)
|
rs1010750845
|
0.00001
|
NM_000138.5(FBN1):c.3711C>T (p.Thr1237=)
|
rs536369260
|
0.00001
|
NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn)
|
rs573187346
|
0.00001
|
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg)
|
rs187177496
|
0.00001
|
NM_000138.5(FBN1):c.4312A>G (p.Ser1438Gly)
|
rs1309215883
|
0.00001
|
NM_000138.5(FBN1):c.442C>T (p.Pro148Ser)
|
rs780624885
|
0.00001
|
NM_000138.5(FBN1):c.4943-3T>C
|
rs367594261
|
0.00001
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
NM_000138.5(FBN1):c.5225-19C>T
|
rs375761937
|
0.00001
|
NM_000138.5(FBN1):c.5296+13G>A
|
rs781168268
|
0.00001
|
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser)
|
rs397515823
|
0.00001
|
NM_000138.5(FBN1):c.5546-17A>G
|
rs758777360
|
0.00001
|
NM_000138.5(FBN1):c.5776A>G (p.Asn1926Asp)
|
rs1060501097
|
0.00001
|
NM_000138.5(FBN1):c.5977G>A (p.Asp1993Asn)
|
rs377671719
|
0.00001
|
NM_000138.5(FBN1):c.6163+2dup
|
rs794728315
|
0.00001
|
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser)
|
rs760055383
|
0.00001
|
NM_000138.5(FBN1):c.6871+12C>A
|
rs770526904
|
0.00001
|
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr)
|
rs148831709
|
0.00001
|
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu)
|
rs397515844
|
0.00001
|
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)
|
rs199750146
|
0.00001
|
NM_000138.5(FBN1):c.7183G>A (p.Gly2395Arg)
|
rs1448650040
|
0.00001
|
NM_000138.5(FBN1):c.7484A>G (p.Asn2495Ser)
|
rs1252037822
|
0.00001
|
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser)
|
rs111231879
|
0.00001
|
NM_000138.5(FBN1):c.8051+20G>T
|
rs781718760
|
0.00001
|
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln)
|
rs552157433
|
0.00001
|
NM_000138.5(FBN1):c.8257C>G (p.Leu2753Val)
|
rs1253681259
|
0.00001
|
NM_000138.5(FBN1):c.8593A>G (p.Lys2865Glu)
|
rs775732785
|
0.00001
|
NM_000141.5(FGFR2):c.569G>A (p.Arg190Gln)
|
rs759750319
|
0.00001
|
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu)
|
rs79184941
|
0.00001
|
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe)
|
rs761325047
|
0.00001
|
NM_000142.5(FGFR3):c.370C>T (p.Arg124Trp)
|
rs199740841
|
0.00001
|
NM_000143.4(FH):c.817G>A (p.Ala273Thr)
|
rs772190176
|
0.00001
|
NM_000146.4(FTL):c.-182C>T
|
rs886037622
|
0.00001
|
NM_000147.5(FUCA1):c.485G>A (p.Arg162Gln)
|
rs372045495
|
0.00001
|
NM_000151.4(G6PC1):c.356A>G (p.His119Arg)
|
rs1401928680
|
0.00001
|
NM_000152.5(GAA):c.1075+4G>A
|
rs754290055
|
0.00001
|
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)
|
rs372486238
|
0.00001
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn)
|
rs755272974
|
0.00001
|
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
|
rs772607616
|
0.00001
|
NM_000153.4(GALC):c.*12G>A
|
rs372641636
|
0.00001
|
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln)
|
rs887930208
|
0.00001
|
NM_000153.4(GALC):c.1489+9T>C
|
rs747839251
|
0.00001
|
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro)
|
rs1418694289
|
0.00001
|
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser)
|
rs769851272
|
0.00001
|
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)
|
rs1249991480
|
0.00001
|
NM_000153.4(GALC):c.251A>G (p.Asp84Gly)
|
rs1555383882
|
0.00001
|
NM_000153.4(GALC):c.486C>A (p.Asp162Glu)
|
rs767286511
|
0.00001
|
NM_000153.4(GALC):c.869G>A (p.Arg290His)
|
rs746806459
|
0.00001
|
NM_000154.2(GALK1):c.106G>C (p.Gly36Arg)
|
rs1214866139
|
0.00001
|
NM_000154.2(GALK1):c.202C>T (p.Arg68Cys)
|
rs1365349586
|
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.469G>A (p.Val157Ile)
|
rs1173928130
|
0.00001
|
NM_000155.4(GALT):c.564+7G>A
|
rs760189807
|
0.00001
|
NM_000155.4(GALT):c.593T>C (p.Ile198Thr)
|
rs1483461355
|
0.00001
|
NM_000155.4(GALT):c.632G>C (p.Ser211Thr)
|
rs3824553
|
0.00001
|
NM_000155.4(GALT):c.82+13C>T
|
rs776194301
|
0.00001
|
NM_000155.4(GALT):c.82+15G>A
|
rs752065555
|
0.00001
|
NM_000156.6(GAMT):c.391+15G>T
|
rs367567416
|
0.00001
|
NM_000156.6(GAMT):c.467C>A (p.Ala156Asp)
|
rs368221789
|
0.00001
|
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)
|
rs374306700
|
0.00001
|
NM_000157.4(GBA1):c.1151C>T (p.Ser384Phe)
|
rs868591897
|
0.00001
|
NM_000157.4(GBA1):c.473T>C (p.Ile158Thr)
|
rs77834747
|
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.1693C>T (p.Arg565Trp)
|
rs552094593
|
0.00001
|
NM_000158.4(GBE1):c.2107T>G (p.Ter703Gly)
|
rs1400238963
|
0.00001
|
NM_000158.4(GBE1):c.842T>G (p.Ile281Ser)
|
rs1704706672
|
0.00001
|
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu)
|
rs1449724176
|
0.00001
|
NM_000159.4(GCDH):c.826G>T (p.Val276Leu)
|
rs763300541
|
0.00001
|
NM_000159.4(GCDH):c.833C>T (p.Pro278Leu)
|
rs755054282
|
0.00001
|
NM_000159.4(GCDH):c.852+5G>A
|
rs886054243
|
0.00001
|
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys)
|
rs1328059662
|
0.00001
|
NM_000162.5(GCK):c.1386G>T (p.Met462Ile)
|
rs193922285
|
0.00001
|
NM_000162.5(GCK):c.605T>C (p.Met202Thr)
|
rs193922311
|
0.00001
|
NM_000162.5(GCK):c.824G>A (p.Arg275His)
|
rs767565869
|
0.00001
|
NM_000162.5(GCK):c.951C>G (p.His317Gln)
|
rs1379908545
|
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.801+14C>T
|
rs200744672
|
0.00001
|
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala)
|
rs557412758
|
0.00001
|
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg)
|
rs765384489
|
0.00001
|
NM_000170.3(GLDC):c.2324A>G (p.His775Arg)
|
rs386833555
|
0.00001
|
NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp)
|
rs772574530
|
0.00001
|
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro)
|
rs1356375715
|
0.00001
|
NM_000171.4(GLRA1):c.1158C>A (p.Asn386Lys)
|
rs776916010
|
0.00001
|
NM_000171.4(GLRA1):c.525G>A (p.Met175Ile)
|
rs1341348939
|
0.00001
|
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val)
|
rs730881788
|
0.00001
|
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)
|
rs375974046
|
0.00001
|
NM_000179.3(MSH6):c.1133G>A (p.Arg378Lys)
|
rs587779205
|
0.00001
|
NM_000179.3(MSH6):c.1146C>G (p.His382Gln)
|
rs1572721856
|
0.00001
|
NM_000179.3(MSH6):c.1163A>T (p.His388Leu)
|
rs786201185
|
0.00001
|
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)
|
rs63750065
|
0.00001
|
NM_000179.3(MSH6):c.1214C>G (p.Ser405Cys)
|
rs730881790
|
0.00001
|
NM_000179.3(MSH6):c.134G>C (p.Gly45Ala)
|
rs1114167802
|
0.00001
|
NM_000179.3(MSH6):c.1376C>G (p.Ser459Cys)
|
rs587782346
|
0.00001
|
NM_000179.3(MSH6):c.148T>C (p.Trp50Arg)
|
rs374597395
|
0.00001
|
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)
|
rs63751009
|
0.00001
|
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp)
|
rs373726731
|
0.00001
|
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala)
|
rs63751098
|
0.00001
|
NM_000179.3(MSH6):c.1646C>G (p.Ser549Cys)
|
rs200447622
|
0.00001
|
NM_000179.3(MSH6):c.1655A>G (p.His552Arg)
|
rs1064793423
|
0.00001
|
NM_000179.3(MSH6):c.1757T>C (p.Val586Ala)
|
rs730881792
|
0.00001
|
NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu)
|
rs755847154
|
0.00001
|
NM_000179.3(MSH6):c.2001T>A (p.Asp667Glu)
|
rs1361745058
|
0.00001
|
NM_000179.3(MSH6):c.2006T>C (p.Ile669Thr)
|
rs555209664
|
0.00001
|
NM_000179.3(MSH6):c.2030G>C (p.Ser677Thr)
|
rs587779224
|
0.00001
|
NM_000179.3(MSH6):c.2056G>T (p.Gly686Cys)
|
rs1060502934
|
0.00001
|
NM_000179.3(MSH6):c.2141C>G (p.Ser714Cys)
|
rs730881796
|
0.00001
|
NM_000179.3(MSH6):c.2282G>C (p.Arg761Thr)
|
rs587779233
|
0.00001
|
NM_000179.3(MSH6):c.2291C>A (p.Thr764Asn)
|
rs561198849
|
0.00001
|
NM_000179.3(MSH6):c.2320C>G (p.Leu774Val)
|
rs864622324
|
0.00001
|
NM_000179.3(MSH6):c.233G>A (p.Arg78Lys)
|
rs864622425
|
0.00001
|
NM_000179.3(MSH6):c.2410A>G (p.Lys804Glu)
|
rs1064793552
|
0.00001
|
NM_000179.3(MSH6):c.241G>A (p.Ala81Thr)
|
rs587779239
|
0.00001
|
NM_000179.3(MSH6):c.260+7G>A
|
rs774479750
|
0.00001
|
NM_000179.3(MSH6):c.2600T>G (p.Val867Gly)
|
rs139598980
|
0.00001
|
NM_000179.3(MSH6):c.263G>A (p.Cys88Tyr)
|
rs1060502911
|
0.00001
|
NM_000179.3(MSH6):c.2693C>G (p.Pro898Arg)
|
rs876661281
|
0.00001
|
NM_000179.3(MSH6):c.2762C>T (p.Ala921Val)
|
rs1060502936
|
0.00001
|
NM_000179.3(MSH6):c.2776C>T (p.Leu926Phe)
|
rs587781318
|
0.00001
|
NM_000179.3(MSH6):c.2855T>C (p.Leu952Pro)
|
rs587781743
|
0.00001
|
NM_000179.3(MSH6):c.2875C>T (p.Arg959Cys)
|
rs751973865
|
0.00001
|
NM_000179.3(MSH6):c.2882G>C (p.Arg961Thr)
|
rs587781458
|
0.00001
|
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala)
|
rs746631156
|
0.00001
|
NM_000179.3(MSH6):c.2960C>T (p.Thr987Ile)
|
rs587779928
|
0.00001
|
NM_000179.3(MSH6):c.2962C>T (p.Arg988Cys)
|
rs61753795
|
0.00001
|
NM_000179.3(MSH6):c.3014G>A (p.Arg1005Gln)
|
rs587782324
|
0.00001
|
NM_000179.3(MSH6):c.3049A>G (p.Asn1017Asp)
|
rs1060502943
|
0.00001
|
NM_000179.3(MSH6):c.3181C>G (p.Leu1061Val)
|
rs1553331250
|
0.00001
|
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)
|
rs376452612
|
0.00001
|
NM_000179.3(MSH6):c.3312T>A (p.Phe1104Leu)
|
rs747441460
|
0.00001
|
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn)
|
rs773955368
|
0.00001
|
NM_000179.3(MSH6):c.3363G>C (p.Glu1121Asp)
|
rs377226210
|
0.00001
|
NM_000179.3(MSH6):c.336C>A (p.Asn112Lys)
|
rs1182444882
|
0.00001
|
NM_000179.3(MSH6):c.3465G>T (p.Gln1155His)
|
rs766817979
|
0.00001
|
NM_000179.3(MSH6):c.3604A>G (p.Met1202Val)
|
rs369778514
|
0.00001
|
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr)
|
rs587779273
|
0.00001
|
NM_000179.3(MSH6):c.361C>T (p.Arg121Cys)
|
rs763593669
|
0.00001
|
NM_000179.3(MSH6):c.3649A>G (p.Arg1217Gly)
|
rs587780677
|
0.00001
|
NM_000179.3(MSH6):c.3686A>G (p.Asn1229Ser)
|
rs730881807
|
0.00001
|
NM_000179.3(MSH6):c.3713C>G (p.Thr1238Ser)
|
rs755349360
|
0.00001
|
NM_000179.3(MSH6):c.3725G>T (p.Arg1242Leu)
|
rs63750119
|
0.00001
|
NM_000179.3(MSH6):c.3779T>C (p.Val1260Ala)
|
rs1212740618
|
0.00001
|
NM_000179.3(MSH6):c.3782C>T (p.Ala1261Val)
|
rs773171352
|
0.00001
|
NM_000179.3(MSH6):c.3809T>A (p.Met1270Lys)
|
rs777617756
|
0.00001
|
NM_000179.3(MSH6):c.3886A>G (p.Lys1296Glu)
|
rs575714670
|
0.00001
|
NM_000179.3(MSH6):c.4068G>C (p.Leu1356Phe)
|
rs192740549
|
0.00001
|
NM_000179.3(MSH6):c.435A>C (p.Lys145Asn)
|
rs1321666742
|
0.00001
|
NM_000179.3(MSH6):c.457+7G>C
|
rs781280171
|
0.00001
|
NM_000179.3(MSH6):c.533G>A (p.Arg178His)
|
rs786204186
|
0.00001
|
NM_000179.3(MSH6):c.533G>T (p.Arg178Leu)
|
rs786204186
|
0.00001
|
NM_000179.3(MSH6):c.566A>T (p.Lys189Met)
|
rs1060502889
|
0.00001
|
NM_000179.3(MSH6):c.667A>G (p.Asn223Asp)
|
rs374041375
|
0.00001
|
NM_000179.3(MSH6):c.854G>T (p.Ser285Ile)
|
rs63750878
|
0.00001
|
NM_000179.3(MSH6):c.898C>T (p.Arg300Trp)
|
rs779858670
|
0.00001
|
NM_000179.3(MSH6):c.997A>G (p.Thr333Ala)
|
rs886056143
|
0.00001
|
NM_000180.4(GUCY2D):c.1996C>T (p.Arg666Trp)
|
rs757387072
|
0.00001
|
NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu)
|
rs771629102
|
0.00001
|
NM_000181.4(GUSB):c.1222C>T (p.Pro408Ser)
|
rs779091113
|
0.00001
|
NM_000182.5(HADHA):c.67+17G>C
|
rs574255291
|
0.00001
|
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr)
|
rs137852774
|
0.00001
|
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg)
|
rs796051970
|
0.00001
|
NM_000183.3(HADHB):c.608G>A (p.Arg203Gln)
|
rs749861331
|
0.00001
|
NM_000190.4(HMBS):c.163G>T (p.Ala55Ser)
|
rs118204106
|
0.00001
|
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln)
|
rs199587895
|
0.00001
|
NM_000191.3(HMGCL):c.704A>G (p.His235Arg)
|
rs990313450
|
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_000203.5(IDUA):c.1070C>T (p.Pro357Leu)
|
rs918621189
|
0.00001
|
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)
|
rs780165694
|
0.00001
|
NM_000203.5(IDUA):c.535A>G (p.Thr179Ala)
|
rs766030255
|
0.00001
|
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)
|
rs546933529
|
0.00001
|
NM_000208.4(INSR):c.1151A>G (p.Asn384Ser)
|
rs1419106670
|
0.00001
|
NM_000209.4(PDX1):c.110A>T (p.Tyr37Phe)
|
rs1242190304
|
0.00001
|
NM_000214.3(JAG1):c.2413C>T (p.Arg805Trp)
|
rs1458651228
|
0.00001
|
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser)
|
rs780676796
|
0.00001
|
NM_000218.3(KCNQ1):c.683+5G>A
|
rs397508122
|
0.00001
|
NM_000231.3(SGCG):c.703C>T (p.Leu235Phe)
|
rs763780768
|
0.00001
|
NM_000237.3(LPL):c.590G>A (p.Arg197His)
|
rs372668179
|
0.00001
|
NM_000238.4(KCNH2):c.1946-8G>A
|
rs1384850938
|
0.00001
|
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His)
|
rs199473432
|
0.00001
|
NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala)
|
rs786205422
|
0.00001
|
NM_000243.3(MEFV):c.1261-13G>A
|
rs778114467
|
0.00001
|
NM_000243.3(MEFV):c.1356+11A>C
|
rs548648384
|
0.00001
|
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys)
|
rs104895101
|
0.00001
|
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)
|
rs550970304
|
0.00001
|
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)
|
rs104895165
|
0.00001
|
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)
|
rs104895102
|
0.00001
|
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)
|
rs104895154
|
0.00001
|
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)
|
rs104895130
|
0.00001
|
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)
|
rs104895076
|
0.00001
|
NM_000243.3(MEFV):c.448G>A (p.Gly150Arg)
|
rs1959088372
|
0.00001
|
NM_000243.3(MEFV):c.589G>C (p.Gly197Arg)
|
rs765450054
|
0.00001
|
NM_000243.3(MEFV):c.679A>G (p.Arg227Gly)
|
rs1302994748
|
0.00001
|
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
NM_000245.4(MET):c.2851T>C (p.Phe951Leu)
|
rs756670611
|
0.00001
|
NM_000245.4(MET):c.490C>G (p.Pro164Ala)
|
rs765759353
|
0.00001
|
NM_000246.4(CIITA):c.2027A>T (p.Gln676Leu)
|
rs574001136
|
0.00001
|
NM_000246.4(CIITA):c.3326C>T (p.Thr1109Met)
|
rs1013962316
|
0.00001
|
NM_000249.4(MLH1):c.*3A>G
|
rs587778880
|
0.00001
|
NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp)
|
rs587781750
|
0.00001
|
NM_000249.4(MLH1):c.1060G>A (p.Gly354Ser)
|
rs752962453
|
0.00001
|
NM_000249.4(MLH1):c.1063C>T (p.Pro355Ser)
|
rs756347993
|
0.00001
|
NM_000249.4(MLH1):c.1064C>T (p.Pro355Leu)
|
rs587782467
|
0.00001
|
NM_000249.4(MLH1):c.116+8G>A
|
rs904872305
|
0.00001
|
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn)
|
rs587779951
|
0.00001
|
NM_000249.4(MLH1):c.1245T>G (p.Asp415Glu)
|
rs750563193
|
0.00001
|
NM_000249.4(MLH1):c.1277A>T (p.Gln426Leu)
|
rs876659252
|
0.00001
|
NM_000249.4(MLH1):c.1451A>G (p.Asp484Gly)
|
rs876659795
|
0.00001
|
NM_000249.4(MLH1):c.1490G>A (p.Arg497Gln)
|
rs754554026
|
0.00001
|
NM_000249.4(MLH1):c.1500C>G (p.Ile500Met)
|
rs887474856
|
0.00001
|
NM_000249.4(MLH1):c.1538T>C (p.Ile513Thr)
|
rs876658689
|
0.00001
|
NM_000249.4(MLH1):c.1558+10C>T
|
rs765913871
|
0.00001
|
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)
|
rs63751596
|
0.00001
|
NM_000249.4(MLH1):c.1731+8T>C
|
rs370108219
|
0.00001
|
NM_000249.4(MLH1):c.1744C>G (p.Leu582Val)
|
rs63751713
|
0.00001
|
NM_000249.4(MLH1):c.1834G>A (p.Val612Ile)
|
rs587779956
|
0.00001
|
NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu)
|
rs377241633
|
0.00001
|
NM_000249.4(MLH1):c.1896+7C>T
|
rs863224339
|
0.00001
|
NM_000249.4(MLH1):c.2161T>C (p.Tyr721His)
|
rs1453792999
|
0.00001
|
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys)
|
rs587778986
|
0.00001
|
NM_000249.4(MLH1):c.306+4A>G
|
rs267607733
|
0.00001
|
NM_000249.4(MLH1):c.306G>A (p.Glu102=)
|
rs63751665
|
0.00001
|
NM_000249.4(MLH1):c.359C>G (p.Ala120Gly)
|
rs267607740
|
0.00001
|
NM_000249.4(MLH1):c.454-6G>A
|
rs781238673
|
0.00001
|
NM_000249.4(MLH1):c.541G>A (p.Gly181Ser)
|
rs1064795694
|
0.00001
|
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu)
|
rs587779029
|
0.00001
|
NM_000249.4(MLH1):c.622C>T (p.Pro208Ser)
|
rs587781509
|
0.00001
|
NM_000249.4(MLH1):c.652T>C (p.Ser218Pro)
|
rs750650349
|
0.00001
|
NM_000249.4(MLH1):c.677+7C>G
|
rs556224377
|
0.00001
|
NM_000249.4(MLH1):c.677+9A>G
|
rs1060500696
|
0.00001
|
NM_000249.4(MLH1):c.704A>T (p.Asp235Val)
|
rs587781505
|
0.00001
|
NM_000249.4(MLH1):c.743A>G (p.Asn248Ser)
|
rs587782800
|
0.00001
|
NM_000249.4(MLH1):c.79C>T (p.Arg27Trp)
|
rs756398627
|
0.00001
|
NM_000249.4(MLH1):c.848A>G (p.Tyr283Cys)
|
rs201931669
|
0.00001
|
NM_000249.4(MLH1):c.863C>T (p.Thr288Ile)
|
rs786203878
|
0.00001
|
NM_000249.4(MLH1):c.887T>C (p.Leu296Ser)
|
rs63750547
|
0.00001
|
NM_000251.3(MSH2):c.-9G>C
|
rs547444746
|
0.00001
|
NM_000251.3(MSH2):c.1076+12G>C
|
rs755616171
|
0.00001
|
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)
|
rs776174711
|
0.00001
|
NM_000251.3(MSH2):c.1148G>A (p.Arg383Gln)
|
rs376934727
|
0.00001
|
NM_000251.3(MSH2):c.115C>A (p.Arg39=)
|
rs786202334
|
0.00001
|
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr)
|
rs878853798
|
0.00001
|
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)
|
rs751431238
|
0.00001
|
NM_000251.3(MSH2):c.1316C>T (p.Pro439Leu)
|
rs771789692
|
0.00001
|
NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn)
|
rs587781331
|
0.00001
|
NM_000251.3(MSH2):c.1489A>G (p.Ile497Val)
|
rs755501968
|
0.00001
|
NM_000251.3(MSH2):c.1511-12T>C
|
rs539257378
|
0.00001
|
NM_000251.3(MSH2):c.1622C>T (p.Thr541Ile)
|
rs864622079
|
0.00001
|
NM_000251.3(MSH2):c.1709A>G (p.Tyr570Cys)
|
rs587779963
|
0.00001
|
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser)
|
rs747504492
|
0.00001
|
NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg)
|
rs779447213
|
0.00001
|
NM_000251.3(MSH2):c.1819A>G (p.Ser607Gly)
|
rs772991620
|
0.00001
|
NM_000251.3(MSH2):c.1897A>G (p.Ile633Val)
|
rs771695599
|
0.00001
|
NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr)
|
rs864622093
|
0.00001
|
NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)
|
rs374840361
|
0.00001
|
NM_000251.3(MSH2):c.192C>G (p.Ile64Met)
|
rs1395172053
|
0.00001
|
NM_000251.3(MSH2):c.199A>G (p.Met67Val)
|
rs768824654
|
0.00001
|
NM_000251.3(MSH2):c.2039G>A (p.Arg680Gln)
|
rs1203462814
|
0.00001
|
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)
|
rs755920849
|
0.00001
|
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile)
|
rs63750790
|
0.00001
|
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile)
|
rs587781996
|
0.00001
|
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr)
|
rs772662439
|
0.00001
|
NM_000251.3(MSH2):c.220A>C (p.Asn74His)
|
rs150548839
|
0.00001
|
NM_000251.3(MSH2):c.2211-7G>A
|
rs764972956
|
0.00001
|
NM_000251.3(MSH2):c.2386A>G (p.Thr796Ala)
|
rs876660738
|
0.00001
|
NM_000251.3(MSH2):c.2407A>G (p.Thr803Ala)
|
rs63751168
|
0.00001
|
NM_000251.3(MSH2):c.2437A>G (p.Met813Val)
|
rs63749841
|
0.00001
|
NM_000251.3(MSH2):c.2458+4T>C
|
rs1038735071
|
0.00001
|
NM_000251.3(MSH2):c.2571T>G (p.Ile857Met)
|
rs1400051085
|
0.00001
|
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu)
|
rs730881772
|
0.00001
|
NM_000251.3(MSH2):c.2649T>G (p.Ile883Met)
|
rs768983827
|
0.00001
|
NM_000251.3(MSH2):c.2661C>G (p.Phe887Leu)
|
rs1290935051
|
0.00001
|
NM_000251.3(MSH2):c.266T>C (p.Val89Ala)
|
rs876659747
|
0.00001
|
NM_000251.3(MSH2):c.286C>T (p.Arg96Cys)
|
rs1443234544
|
0.00001
|
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys)
|
rs587779971
|
0.00001
|
NM_000251.3(MSH2):c.366+4A>C
|
rs876659880
|
0.00001
|
NM_000251.3(MSH2):c.395A>T (p.Glu132Val)
|
rs1486720679
|
0.00001
|
NM_000251.3(MSH2):c.476G>T (p.Arg159Ile)
|
rs786202921
|
0.00001
|
NM_000251.3(MSH2):c.509A>G (p.Gln170Arg)
|
rs1114167865
|
0.00001
|
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)
|
rs141021599
|
0.00001
|
NM_000251.3(MSH2):c.574A>T (p.Ile192Phe)
|
rs768006988
|
0.00001
|
NM_000251.3(MSH2):c.589A>C (p.Lys197Gln)
|
rs778573140
|
0.00001
|
NM_000251.3(MSH2):c.646-13T>C
|
rs761205332
|
0.00001
|
NM_000251.3(MSH2):c.646-3T>C
|
rs267607930
|
0.00001
|
NM_000251.3(MSH2):c.700A>G (p.Thr234Ala)
|
rs1212577306
|
0.00001
|
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)
|
rs199676483
|
0.00001
|
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)
|
rs63751455
|
0.00001
|
NM_000251.3(MSH2):c.742A>G (p.Lys248Glu)
|
rs587779178
|
0.00001
|
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser)
|
rs587781294
|
0.00001
|
NM_000251.3(MSH2):c.814G>A (p.Ala272Thr)
|
rs1558463956
|
0.00001
|
NM_000255.4(MMUT):c.556A>G (p.Met186Val)
|
rs148331800
|
0.00001
|
NM_000256.3(MYBPC3):c.112G>A (p.Val38Met)
|
rs1299024877
|
0.00001
|
NM_000256.3(MYBPC3):c.1219G>A (p.Gly407Ser)
|
rs727505266
|
0.00001
|
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His)
|
rs397515923
|
0.00001
|
NM_000256.3(MYBPC3):c.1976T>C (p.Ile659Thr)
|
rs397515941
|
0.00001
|
NM_000256.3(MYBPC3):c.2915G>A (p.Arg972Gln)
|
rs761696555
|
0.00001
|
NM_000256.3(MYBPC3):c.3568C>T (p.Arg1190Cys)
|
rs755160084
|
0.00001
|
NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln)
|
rs762225417
|
0.00001
|
NM_000257.4(MYH7):c.1699C>T (p.Arg567Cys)
|
rs771771163
|
0.00001
|
NM_000257.4(MYH7):c.201+13C>T
|
rs781529698
|
0.00001
|
NM_000257.4(MYH7):c.2044+18G>A
|
rs1406715881
|
0.00001
|
NM_000257.4(MYH7):c.2286+7A>G
|
rs758365123
|
0.00001
|
NM_000257.4(MYH7):c.2286G>A (p.Lys762=)
|
rs958169569
|
0.00001
|
NM_000257.4(MYH7):c.22G>A (p.Val8Ile)
|
rs754388460
|
0.00001
|
NM_000257.4(MYH7):c.2573G>A (p.Arg858His)
|
rs2856897
|
0.00001
|
NM_000257.4(MYH7):c.2908G>A (p.Ala970Thr)
|
rs1446657813
|
0.00001
|
NM_000257.4(MYH7):c.3245+2T>G
|
rs113859723
|
0.00001
|
NM_000257.4(MYH7):c.3337G>A (p.Ala1113Thr)
|
rs193922388
|
0.00001
|
NM_000257.4(MYH7):c.3407G>A (p.Arg1136His)
|
rs730880905
|
0.00001
|
NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu)
|
rs546586969
|
0.00001
|
NM_000257.4(MYH7):c.3781A>C (p.Ser1261Arg)
|
rs193922389
|
0.00001
|
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys)
|
rs730880785
|
0.00001
|
NM_000257.4(MYH7):c.4424G>A (p.Arg1475His)
|
rs1176998293
|
0.00001
|
NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys)
|
rs750987717
|
0.00001
|
NM_000257.4(MYH7):c.5029C>T (p.Arg1677Cys)
|
rs377461670
|
0.00001
|
NM_000257.4(MYH7):c.5341C>T (p.Arg1781Cys)
|
rs397516245
|
0.00001
|
NM_000257.4(MYH7):c.5519T>C (p.Met1840Thr)
|
rs149193520
|
0.00001
|
NM_000258.3(MYL3):c.235G>A (p.Val79Ile)
|
rs150634297
|
0.00001
|
NM_000258.3(MYL3):c.517A>G (p.Met173Val)
|
rs199474708
|
0.00001
|
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys)
|
rs995330889
|
0.00001
|
NM_000260.4(MYO7A):c.338T>C (p.Ile113Thr)
|
rs1168387013
|
0.00001
|
NM_000260.4(MYO7A):c.3750+4C>T
|
rs764701863
|
0.00001
|
NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser)
|
rs535102352
|
0.00001
|
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)
|
rs1215582852
|
0.00001
|
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln)
|
rs904118831
|
0.00001
|
NM_000263.4(NAGLU):c.757G>A (p.Val253Ile)
|
rs764452721
|
0.00001
|
NM_000264.5(PTCH1):c.2936A>G (p.Asn979Ser)
|
rs758907408
|
0.00001
|
NM_000264.5(PTCH1):c.394+6_394+17del
|
rs774338309
|
0.00001
|
NM_000271.5(NPC1):c.1870G>A (p.Val624Ile)
|
rs76615690
|
0.00001
|
NM_000271.5(NPC1):c.1883A>G (p.Tyr628Cys)
|
rs2058768795
|
0.00001
|
NM_000271.5(NPC1):c.2596A>G (p.Met866Val)
|
rs771088243
|
0.00001
|
NM_000271.5(NPC1):c.302T>G (p.Phe101Cys)
|
rs548191894
|
0.00001
|
NM_000271.5(NPC1):c.83A>G (p.Tyr28Cys)
|
rs1232191827
|
0.00001
|
NM_000275.3(OCA2):c.1064C>T (p.Ala355Val)
|
rs570914443
|
0.00001
|
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly)
|
rs147816326
|
0.00001
|
NM_000275.3(OCA2):c.1378C>T (p.Leu460Phe)
|
rs748692597
|
0.00001
|
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys)
|
rs137853831
|
0.00001
|
NM_000277.3(PAH):c.176A>T (p.Asp59Val)
|
rs199475672
|
0.00001
|
NM_000277.3(PAH):c.532G>A (p.Glu178Lys)
|
rs1448720360
|
0.00001
|
NM_000277.3(PAH):c.969+6T>A
|
rs62517196
|
0.00001
|
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro)
|
rs794727479
|
0.00001
|
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro)
|
rs774457925
|
0.00001
|
NM_000284.4(PDHA1):c.900-2dup
|
rs779132922
|
0.00001
|
NM_000285.4(PEPD):c.563C>T (p.Thr188Met)
|
rs141623136
|
0.00001
|
NM_000289.6(PFKM):c.733C>T (p.Arg245Cys)
|
rs1592742248
|
0.00001
|
NM_000292.3(PHKA2):c.3601T>C (p.Tyr1201His)
|
rs373407231
|
0.00001
|
NM_000292.3(PHKA2):c.535G>A (p.Ala179Thr)
|
rs749441642
|
0.00001
|
NM_000294.3(PHKG2):c.1099C>T (p.Gln367Ter)
|
rs1320107162
|
0.00001
|
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn)
|
rs767427889
|
0.00001
|
NM_000302.4(PLOD1):c.1027G>A (p.Glu343Lys)
|
rs748344499
|
0.00001
|
NM_000302.4(PLOD1):c.740A>G (p.Lys247Arg)
|
rs762431149
|
0.00001
|
NM_000302.4(PLOD1):c.741+4G>C
|
rs763641520
|
0.00001
|
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met)
|
rs374597380
|
0.00001
|
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)
|
rs755402538
|
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_000305.3(PON2):c.293G>A (p.Arg98Gln)
|
rs374262764
|
0.00001
|
NM_000310.4(PPT1):c.433G>C (p.Gly145Arg)
|
rs369186379
|
0.00001
|
NM_000314.6(PTEN):c.-912T>C
|
rs535142665
|
0.00001
|
NM_000314.6(PTEN):c.-923C>T
|
rs786204936
|
0.00001
|
NM_000314.6(PTEN):c.-927C>G
|
rs1158800882
|
0.00001
|
NM_000314.8(PTEN):c.-796C>T
|
rs1217530014
|
0.00001
|
NM_000314.8(PTEN):c.635-8C>A
|
rs780495238
|
0.00001
|
NM_000314.8(PTEN):c.801+8C>G
|
rs1057517630
|
0.00001
|
NM_000317.3(PTS):c.347A>G (p.Asp116Gly)
|
rs104894279
|
0.00001
|
NM_000318.3(PEX2):c.782A>G (p.His261Arg)
|
rs749956542
|
0.00001
|
NM_000321.3(RB1):c.-149G>T
|
rs1014776340
|
0.00001
|
NM_000321.3(RB1):c.1024A>T (p.Thr342Ser)
|
rs751263356
|
0.00001
|
NM_000329.3(RPE65):c.1189A>G (p.Ser397Gly)
|
rs749942889
|
0.00001
|
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr)
|
rs577335767
|
0.00001
|
NM_000330.4(RS1):c.554C>T (p.Thr185Met)
|
rs61753173
|
0.00001
|
NM_000334.4(SCN4A):c.4270G>A (p.Val1424Ile)
|
rs375844960
|
0.00001
|
NM_000334.4(SCN4A):c.4742A>G (p.Tyr1581Cys)
|
rs912147252
|
0.00001
|
NM_000335.5(SCN5A):c.1018C>T (p.Arg340Trp)
|
rs199473094
|
0.00001
|
NM_000335.5(SCN5A):c.1190T>C (p.Ile397Thr)
|
rs199473105
|
0.00001
|
NM_000335.5(SCN5A):c.1338+18C>T
|
rs761031894
|
0.00001
|
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln)
|
rs199473121
|
0.00001
|
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln)
|
rs199473124
|
0.00001
|
NM_000335.5(SCN5A):c.1981C>T (p.Arg661Trp)
|
rs199473139
|
0.00001
|
NM_000335.5(SCN5A):c.2081A>G (p.Tyr694Cys)
|
rs1438675647
|
0.00001
|
NM_000335.5(SCN5A):c.210T>G (p.Asn70Lys)
|
rs199473050
|
0.00001
|
NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys)
|
rs199473582
|
0.00001
|
NM_000335.5(SCN5A):c.2251G>A (p.Val751Ile)
|
rs772681454
|
0.00001
|
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His)
|
rs566251672
|
0.00001
|
NM_000335.5(SCN5A):c.2431C>T (p.Arg811Cys)
|
rs794728864
|
0.00001
|
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)
|
rs199473180
|
0.00001
|
NM_000335.5(SCN5A):c.3133G>A (p.Val1045Met)
|
rs527480102
|
0.00001
|
NM_000335.5(SCN5A):c.3561G>T (p.Gly1187=)
|
rs17221875
|
0.00001
|
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)
|
rs137854602
|
0.00001
|
NM_000335.5(SCN5A):c.5065G>A (p.Asp1689Asn)
|
rs1060499900
|
0.00001
|
NM_000335.5(SCN5A):c.6024C>G (p.Asp2008Glu)
|
rs757114635
|
0.00001
|
NM_000335.5(SCN5A):c.610G>A (p.Ala204Thr)
|
rs1378168869
|
0.00001
|
NM_000335.5(SCN5A):c.703+11G>A
|
rs779138392
|
0.00001
|
NM_000335.5(SCN5A):c.944T>C (p.Leu315Pro)
|
rs199473564
|
0.00001
|
NM_000337.6(SGCD):c.193-12G>T
|
rs727503421
|
0.00001
|
NM_000337.6(SGCD):c.31C>T (p.Arg11Trp)
|
rs566181541
|
0.00001
|
NM_000337.6(SGCD):c.340A>G (p.Ile114Val)
|
rs760206240
|
0.00001
|
NM_000338.3(SLC12A1):c.2755G>C (p.Asp919His)
|
rs772842522
|
0.00001
|
NM_000338.3(SLC12A1):c.595C>T (p.Arg199Cys)
|
rs780448089
|
0.00001
|
NM_000344.4(SMN1):c.835-33T>G
|
rs1335244738
|
0.00001
|
NM_000344.4(SMN1):c.835-3C>T
|
rs772466166
|
0.00001
|
NM_000350.3(ABCA4):c.2042G>A (p.Arg681Gln)
|
rs761380652
|
0.00001
|
NM_000350.3(ABCA4):c.3005G>A (p.Arg1002Gln)
|
rs752000268
|
0.00001
|
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe)
|
rs542947894
|
0.00001
|
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro)
|
rs797045206
|
0.00001
|
NM_000352.6(ABCC8):c.1801G>A (p.Val601Ile)
|
rs1955813180
|
0.00001
|
NM_000352.6(ABCC8):c.2391-6C>T
|
rs556416038
|
0.00001
|
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile)
|
rs775776658
|
0.00001
|
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser)
|
rs137852673
|
0.00001
|
NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser)
|
rs773448052
|
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.886G>A (p.Gly296Arg)
|
rs148529020
|
0.00001
|
NM_000359.3(TGM1):c.1075G>A (p.Val359Met)
|
rs202037016
|
0.00001
|
NM_000359.3(TGM1):c.2180G>A (p.Arg727Gln)
|
rs775373347
|
0.00001
|
NM_000359.3(TGM1):c.412G>A (p.Glu138Lys)
|
rs765478385
|
0.00001
|
NM_000363.5(TNNI3):c.322G>A (p.Asp108Asn)
|
rs766958196
|
0.00001
|
NM_000363.5(TNNI3):c.34C>T (p.Pro12Ser)
|
rs553214254
|
0.00001
|
NM_000363.5(TNNI3):c.373-17C>T
|
rs769481190
|
0.00001
|
NM_000363.5(TNNI3):c.550-12G>A
|
rs754944128
|
0.00001
|
NM_000363.5(TNNI3):c.632G>T (p.Ter211Leu)
|
rs730881084
|
0.00001
|
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr)
|
rs397514806
|
0.00001
|
NM_000369.5(TSHR):c.692+3G>A
|
rs552128204
|
0.00001
|
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)
|
rs397515524
|
0.00001
|
NM_000371.4(TTR):c.301G>A (p.Ala101Thr)
|
rs730881165
|
0.00001
|
NM_000371.4(TTR):c.69G>A (p.Thr23=)
|
rs752579437
|
0.00001
|
NM_000384.3(APOB):c.10535C>T (p.Thr3512Ile)
|
rs145861016
|
0.00001
|
NM_000388.4(CASR):c.106G>A (p.Gly36Arg)
|
rs193922420
|
0.00001
|
NM_000388.4(CASR):c.1367A>G (p.Glu456Gly)
|
rs2074639185
|
0.00001
|
NM_000388.4(CASR):c.1861G>A (p.Val621Met)
|
rs751538967
|
0.00001
|
NM_000388.4(CASR):c.2147G>A (p.Arg716His)
|
rs201670662
|
0.00001
|
NM_000388.4(CASR):c.2638G>A (p.Ala880Thr)
|
rs763865303
|
0.00001
|
NM_000391.4(TPP1):c.1076-17C>T
|
rs1258440716
|
0.00001
|
NM_000391.4(TPP1):c.959T>G (p.Val320Gly)
|
rs1314521780
|
0.00001
|
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe)
|
rs778385867
|
0.00001
|
NM_000393.5(COL5A2):c.1563+5A>G
|
rs777118100
|
0.00001
|
NM_000393.5(COL5A2):c.4217A>G (p.Lys1406Arg)
|
rs754932150
|
0.00001
|
NM_000393.5(COL5A2):c.690+17T>C
|
rs1171215082
|
0.00001
|
NM_000396.4(CTSK):c.235G>A (p.Gly79Arg)
|
rs750609110
|
0.00001
|
NM_000400.4(ERCC2):c.1963G>T (p.Asp655Tyr)
|
rs1411740455
|
0.00001
|
NM_000400.4(ERCC2):c.1A>G (p.Met1Val)
|
rs757252017
|
0.00001
|
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn)
|
rs121913023
|
0.00001
|
NM_000400.4(ERCC2):c.2137G>C (p.Gly713Arg)
|
rs121913022
|
0.00001
|
NM_000400.4(ERCC2):c.732C>G (p.Ile244Met)
|
rs373375265
|
0.00001
|
NM_000404.4(GLB1):c.785G>C (p.Gly262Ala)
|
rs377174858
|
0.00001
|
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys)
|
rs371546950
|
0.00001
|
NM_000410.4(HFE):c.196C>T (p.Arg66Cys)
|
rs747739169
|
0.00001
|
NM_000410.4(HFE):c.283G>C (p.Asp95His)
|
rs750836160
|
0.00001
|
NM_000414.4(HSD17B4):c.1992G>C (p.Trp664Cys)
|
rs752858179
|
0.00001
|
NM_000414.4(HSD17B4):c.751C>T (p.Arg251Trp)
|
rs771780974
|
0.00001
|
NM_000426.4(LAMA2):c.2089A>G (p.Ile697Val)
|
rs778059153
|
0.00001
|
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg)
|
rs920771326
|
0.00001
|
NM_000426.4(LAMA2):c.554G>T (p.Arg185Leu)
|
rs150586612
|
0.00001
|
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His)
|
rs779326725
|
0.00001
|
NM_000426.4(LAMA2):c.7691T>C (p.Leu2564Pro)
|
rs121913570
|
0.00001
|
NM_000430.4(PAFAH1B1):c.1046G>A (p.Gly349Glu)
|
rs1480224569
|
0.00001
|
NM_000434.4(NEU1):c.869G>A (p.Arg290Gln)
|
rs758877243
|
0.00001
|
NM_000434.4(NEU1):c.914G>A (p.Arg305His)
|
rs774362886
|
0.00001
|
NM_000441.2(SLC26A4):c.1146C>G (p.Asn382Lys)
|
rs780791787
|
0.00001
|
NM_000441.2(SLC26A4):c.1243A>G (p.Ser415Gly)
|
rs756818321
|
0.00001
|
NM_000441.2(SLC26A4):c.1265T>G (p.Val422Gly)
|
rs1057520369
|
0.00001
|
NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala)
|
rs56017519
|
0.00001
|
NM_000441.2(SLC26A4):c.2228T>C (p.Leu743Ser)
|
rs1057517303
|
0.00001
|
NM_000441.2(SLC26A4):c.299T>C (p.Leu100Pro)
|
rs1057518810
|
0.00001
|
NM_000441.2(SLC26A4):c.397T>C (p.Ser133Pro)
|
rs121908365
|
0.00001
|
NM_000441.2(SLC26A4):c.921G>A (p.Thr307=)
|
rs765644650
|
0.00001
|
NM_000443.4(ABCB4):c.1217G>A (p.Arg406Gln)
|
rs763807769
|
0.00001
|
NM_000443.4(ABCB4):c.2000C>T (p.Thr667Ile)
|
rs756777858
|
0.00001
|
NM_000443.4(ABCB4):c.602C>T (p.Thr201Met)
|
rs753318087
|
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_000451.4(SHOX):c.199C>T (p.Pro67Ser)
|
rs200663078
|
0.00001
|
NM_000451.4(SHOX):c.414G>C (p.Glu138Asp)
|
rs750602920
|
0.00001
|
NM_000455.5(STK11):c.-1C>T
|
rs759284466
|
0.00001
|
NM_000455.5(STK11):c.1015C>G (p.Pro339Ala)
|
rs769644352
|
0.00001
|
NM_000455.5(STK11):c.1016C>T (p.Pro339Leu)
|
rs567896256
|
0.00001
|
NM_000455.5(STK11):c.1036G>A (p.Gly346Ser)
|
rs375431906
|
0.00001
|
NM_000455.5(STK11):c.1135C>A (p.His379Asn)
|
rs762124698
|
0.00001
|
NM_000455.5(STK11):c.1142G>C (p.Gly381Ala)
|
rs765419233
|
0.00001
|
NM_000455.5(STK11):c.1147C>T (p.Arg383Cys)
|
rs535449626
|
0.00001
|
NM_000455.5(STK11):c.1148G>A (p.Arg383His)
|
rs730881990
|
0.00001
|
NM_000455.5(STK11):c.1151G>A (p.Arg384Gln)
|
rs371102112
|
0.00001
|
NM_000455.5(STK11):c.116G>T (p.Arg39Leu)
|
rs786203250
|
0.00001
|
NM_000455.5(STK11):c.1175T>C (p.Met392Thr)
|
rs876661013
|
0.00001
|
NM_000455.5(STK11):c.1189G>T (p.Ala397Ser)
|
rs587780008
|
0.00001
|
NM_000455.5(STK11):c.1217C>T (p.Ala406Val)
|
rs748202003
|
0.00001
|
NM_000455.5(STK11):c.1248G>C (p.Lys416Asn)
|
rs1459406168
|
0.00001
|
NM_000455.5(STK11):c.1276C>T (p.Arg426Trp)
|
rs587782687
|
0.00001
|
NM_000455.5(STK11):c.299A>G (p.Gln100Arg)
|
rs1060499957
|
0.00001
|
NM_000455.5(STK11):c.358G>A (p.Glu120Lys)
|
rs775595174
|
0.00001
|
NM_000455.5(STK11):c.427G>A (p.Val143Met)
|
rs779987540
|
0.00001
|
NM_000455.5(STK11):c.434A>G (p.Glu145Gly)
|
rs369764220
|
0.00001
|
NM_000455.5(STK11):c.449T>C (p.Val150Ala)
|
rs587781802
|
0.00001
|
NM_000455.5(STK11):c.464+8del
|
rs878853989
|
0.00001
|
NM_000455.5(STK11):c.839C>T (p.Pro280Leu)
|
rs1356762205
|
0.00001
|
NM_000455.5(STK11):c.921-9C>T
|
rs761688641
|
0.00001
|
NM_000455.5(STK11):c.947C>G (p.Ala316Gly)
|
rs751709130
|
0.00001
|
NM_000455.5(STK11):c.94A>G (p.Thr32Ala)
|
rs755210880
|
0.00001
|
NM_000455.5(STK11):c.991C>T (p.Arg331Trp)
|
rs876658594
|
0.00001
|
NM_000463.3(UGT1A1):c.1130G>T (p.Gly377Val)
|
rs1283652721
|
0.00001
|
NM_000465.4(BARD1):c.1007G>A (p.Cys336Tyr)
|
rs779527817
|
0.00001
|
NM_000465.4(BARD1):c.1009A>G (p.Arg337Gly)
|
rs1016845338
|
0.00001
|
NM_000465.4(BARD1):c.1013C>A (p.Thr338Asn)
|
rs587781313
|
0.00001
|
NM_000465.4(BARD1):c.1016G>A (p.Ser339Asn)
|
rs201261729
|
0.00001
|
NM_000465.4(BARD1):c.1055T>C (p.Val352Ala)
|
rs773918507
|
0.00001
|
NM_000465.4(BARD1):c.1138A>G (p.Asn380Asp)
|
rs876658971
|
0.00001
|
NM_000465.4(BARD1):c.1159T>C (p.Phe387Leu)
|
rs759370463
|
0.00001
|
NM_000465.4(BARD1):c.1265T>C (p.Val422Ala)
|
rs76824305
|
0.00001
|
NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala)
|
rs730881408
|
0.00001
|
NM_000465.4(BARD1):c.1544C>G (p.Ser515Cys)
|
rs746878509
|
0.00001
|
NM_000465.4(BARD1):c.1568+10T>G
|
rs1375582645
|
0.00001
|
NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr)
|
rs587780022
|
0.00001
|
NM_000465.4(BARD1):c.1721G>T (p.Gly574Val)
|
rs1218730514
|
0.00001
|
NM_000465.4(BARD1):c.1808C>A (p.Thr603Lys)
|
rs730881421
|
0.00001
|
NM_000465.4(BARD1):c.1960C>T (p.Pro654Ser)
|
rs876658741
|
0.00001
|
NM_000465.4(BARD1):c.2054A>G (p.His685Arg)
|
rs368488821
|
0.00001
|
NM_000465.4(BARD1):c.2066A>G (p.Asp689Gly)
|
rs1060501312
|
0.00001
|
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val)
|
rs150121935
|
0.00001
|
NM_000465.4(BARD1):c.2146A>G (p.Thr716Ala)
|
rs878854006
|
0.00001
|
NM_000465.4(BARD1):c.2209A>G (p.Ile737Val)
|
rs761655616
|
0.00001
|
NM_000465.4(BARD1):c.2255A>G (p.Gln752Arg)
|
rs755369095
|
0.00001
|
NM_000465.4(BARD1):c.2294A>G (p.Asp765Gly)
|
rs730881426
|
0.00001
|
NM_000465.4(BARD1):c.2324T>A (p.Leu775His)
|
rs907023461
|
0.00001
|
NM_000465.4(BARD1):c.2324_2325del (p.Leu775fs)
|
rs587782046
|
0.00001
|
NM_000465.4(BARD1):c.335G>A (p.Arg112Gln)
|
rs587781591
|
0.00001
|
NM_000465.4(BARD1):c.382C>T (p.Pro128Ser)
|
rs878854011
|
0.00001
|
NM_000465.4(BARD1):c.427A>G (p.Ile143Val)
|
rs1060501289
|
0.00001
|
NM_000465.4(BARD1):c.449G>A (p.Arg150Gln)
|
rs730881412
|
0.00001
|
NM_000465.4(BARD1):c.49G>A (p.Gly17Arg)
|
rs746495820
|
0.00001
|
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys)
|
rs587780032
|
0.00001
|
NM_000465.4(BARD1):c.583G>T (p.Ala195Ser)
|
rs755641562
|
0.00001
|
NM_000465.4(BARD1):c.586A>G (p.Lys196Glu)
|
rs376259263
|
0.00001
|
NM_000465.4(BARD1):c.614A>G (p.Lys205Arg)
|
rs587782437
|
0.00001
|
NM_000465.4(BARD1):c.65C>T (p.Ser22Phe)
|
rs876659724
|
0.00001
|
NM_000465.4(BARD1):c.928T>G (p.Ser310Ala)
|
rs886041139
|
0.00001
|
NM_000465.4(BARD1):c.964C>T (p.Arg322Cys)
|
rs786203129
|
0.00001
|
NM_000465.4(BARD1):c.965G>A (p.Arg322His)
|
rs774251286
|
0.00001
|
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter)
|
rs755549316
|
0.00001
|
NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly)
|
rs745852247
|
0.00001
|
NM_000478.6(ALPL):c.1190G>A (p.Gly397Asp)
|
rs1400042777
|
0.00001
|
NM_000478.6(ALPL):c.1349G>A (p.Arg450His)
|
rs150799088
|
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.530C>T (p.Ala177Val)
|
rs1114167438
|
0.00001
|
NM_000478.6(ALPL):c.650T>C (p.Val217Ala)
|
rs777699004
|
0.00001
|
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys)
|
rs199476370
|
0.00001
|
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg)
|
rs375493957
|
0.00001
|
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly)
|
rs199476388
|
0.00001
|
NM_000487.6(ARSA):c.989A>G (p.His330Arg)
|
rs1359332879
|
0.00001
|
NM_000489.6(ATRX):c.1253G>A (p.Arg418Gln)
|
rs1557142053
|
0.00001
|
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr)
|
rs782530243
|
0.00001
|
NM_000489.6(ATRX):c.5786A>G (p.Lys1929Arg)
|
rs1569528833
|
0.00001
|
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys)
|
rs397508147
|
0.00001
|
NM_000492.4(CFTR):c.1133A>G (p.Gln378Arg)
|
rs768589673
|
0.00001
|
NM_000492.4(CFTR):c.1209+6A>G
|
rs749054857
|
0.00001
|
NM_000492.4(CFTR):c.1209+7A>T
|
rs767301152
|
0.00001
|
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys)
|
rs766063304
|
0.00001
|
NM_000492.4(CFTR):c.1343T>C (p.Ile448Thr)
|
rs748642635
|
0.00001
|
NM_000492.4(CFTR):c.1407G>T (p.Met469Ile)
|
rs143218779
|
0.00001
|
NM_000492.4(CFTR):c.142A>C (p.Asn48His)
|
rs1248202161
|
0.00001
|
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)
|
rs754152822
|
0.00001
|
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp)
|
rs774945680
|
0.00001
|
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr)
|
rs397508220
|
0.00001
|
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu)
|
rs387906368
|
0.00001
|
NM_000492.4(CFTR):c.1606A>G (p.Lys536Glu)
|
rs148173473
|
0.00001
|
NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr)
|
rs144745159
|
0.00001
|
NM_000492.4(CFTR):c.1811C>G (p.Thr604Ser)
|
rs397508308
|
0.00001
|
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln)
|
rs397508342
|
0.00001
|
NM_000492.4(CFTR):c.2168G>T (p.Gly723Val)
|
rs200531709
|
0.00001
|
NM_000492.4(CFTR):c.2291G>A (p.Arg764Gln)
|
rs1417904716
|
0.00001
|
NM_000492.4(CFTR):c.2410G>A (p.Glu804Lys)
|
rs1792049376
|
0.00001
|
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)
|
rs397508375
|
0.00001
|
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly)
|
rs377447726
|
0.00001
|
NM_000492.4(CFTR):c.2433G>T (p.Arg811Ser)
|
rs778688276
|
0.00001
|
NM_000492.4(CFTR):c.2469A>T (p.Glu823Asp)
|
rs777667933
|
0.00001
|
NM_000492.4(CFTR):c.260T>C (p.Phe87Ser)
|
rs1310658028
|
0.00001
|
NM_000492.4(CFTR):c.2627C>T (p.Ala876Val)
|
rs1472821278
|
0.00001
|
NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys)
|
rs397508418
|
0.00001
|
NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly)
|
rs766181463
|
0.00001
|
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)
|
rs369521395
|
0.00001
|
NM_000492.4(CFTR):c.273+4A>G
|
rs387906374
|
0.00001
|
NM_000492.4(CFTR):c.274-13T>C
|
rs1021474992
|
0.00001
|
NM_000492.4(CFTR):c.2846A>T (p.His949Leu)
|
rs397508444
|
0.00001
|
NM_000492.4(CFTR):c.2876C>T (p.Ala959Val)
|
rs397508448
|
0.00001
|
NM_000492.4(CFTR):c.2908+4C>A
|
rs372266030
|
0.00001
|
NM_000492.4(CFTR):c.2909-99del
|
rs1213436263
|
0.00001
|
NM_000492.4(CFTR):c.2946T>G (p.Ile982Met)
|
rs748430234
|
0.00001
|
NM_000492.4(CFTR):c.2973A>G (p.Ile991Met)
|
rs370181570
|
0.00001
|
NM_000492.4(CFTR):c.2981T>G (p.Phe994Cys)
|
rs397508469
|
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.3139+19G>A
|
rs751210436
|
0.00001
|
NM_000492.4(CFTR):c.3139+3A>G
|
rs950336425
|
0.00001
|
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile)
|
rs140883683
|
0.00001
|
NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys)
|
rs150020260
|
0.00001
|
NM_000492.4(CFTR):c.3275A>G (p.Tyr1092Cys)
|
rs764434414
|
0.00001
|
NM_000492.4(CFTR):c.3368-20C>T
|
rs761144879
|
0.00001
|
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu)
|
rs1434504483
|
0.00001
|
NM_000492.4(CFTR):c.3382A>G (p.Arg1128Gly)
|
rs397508549
|
0.00001
|
NM_000492.4(CFTR):c.3391A>G (p.Ile1131Val)
|
rs755472768
|
0.00001
|
NM_000492.4(CFTR):c.3406G>A (p.Ala1136Thr)
|
rs755968404
|
0.00001
|
NM_000492.4(CFTR):c.3407C>T (p.Ala1136Val)
|
rs1562916044
|
0.00001
|
NM_000492.4(CFTR):c.3444C>A (p.Asn1148Lys)
|
rs397508565
|
0.00001
|
NM_000492.4(CFTR):c.3468+6T>C
|
rs547442588
|
0.00001
|
NM_000492.4(CFTR):c.3562T>C (p.Ser1188Pro)
|
rs762167681
|
0.00001
|
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val)
|
rs75647395
|
0.00001
|
NM_000492.4(CFTR):c.3674C>T (p.Ala1225Val)
|
rs770358073
|
0.00001
|
NM_000492.4(CFTR):c.3713A>G (p.Gln1238Arg)
|
rs397508594
|
0.00001
|
NM_000492.4(CFTR):c.3763T>A (p.Ser1255Thr)
|
rs121909041
|
0.00001
|
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser)
|
rs397508606
|
0.00001
|
NM_000492.4(CFTR):c.3803A>G (p.Gln1268Arg)
|
rs766370233
|
0.00001
|
NM_000492.4(CFTR):c.3868C>A (p.Pro1290Thr)
|
rs397508619
|
0.00001
|
NM_000492.4(CFTR):c.3925C>G (p.Gln1309Glu)
|
rs193922732
|
0.00001
|
NM_000492.4(CFTR):c.3935A>G (p.Asp1312Gly)
|
rs397508646
|
0.00001
|
NM_000492.4(CFTR):c.3963+6G>T
|
rs1793110791
|
0.00001
|
NM_000492.4(CFTR):c.4033G>A (p.Val1345Ile)
|
rs1371379517
|
0.00001
|
NM_000492.4(CFTR):c.4048C>T (p.His1350Tyr)
|
rs955306189
|
0.00001
|
NM_000492.4(CFTR):c.4064G>T (p.Cys1355Phe)
|
rs755028771
|
0.00001
|
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)
|
rs397508674
|
0.00001
|
NM_000492.4(CFTR):c.4115C>T (p.Pro1372Leu)
|
rs397508677
|
0.00001
|
NM_000492.4(CFTR):c.4136+52del
|
rs779110970
|
0.00001
|
NM_000492.4(CFTR):c.4137-7T>C
|
rs1400171855
|
0.00001
|
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser)
|
rs397508692
|
0.00001
|
NM_000492.4(CFTR):c.4207A>G (p.Arg1403Gly)
|
rs970498675
|
0.00001
|
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)
|
rs397508699
|
0.00001
|
NM_000492.4(CFTR):c.4237T>C (p.Phe1413Leu)
|
rs142092183
|
0.00001
|
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro)
|
rs397508708
|
0.00001
|
NM_000492.4(CFTR):c.4277C>T (p.Ser1426Phe)
|
rs762847468
|
0.00001
|
NM_000492.4(CFTR):c.4297G>A (p.Glu1433Lys)
|
rs750559671
|
0.00001
|
NM_000492.4(CFTR):c.4312C>T (p.Arg1438Trp)
|
rs397508711
|
0.00001
|
NM_000492.4(CFTR):c.4313G>A (p.Arg1438Gln)
|
rs975983947
|
0.00001
|
NM_000492.4(CFTR):c.4436G>A (p.Arg1479Lys)
|
rs1325117166
|
0.00001
|
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr)
|
rs397508725
|
0.00001
|
NM_000492.4(CFTR):c.529A>T (p.Ile177Phe)
|
rs1267579802
|
0.00001
|
NM_000492.4(CFTR):c.530T>C (p.Ile177Thr)
|
rs397508747
|
0.00001
|
NM_000492.4(CFTR):c.538C>G (p.Leu180Val)
|
rs374163420
|
0.00001
|
NM_000492.4(CFTR):c.579+4del
|
rs745591601
|
0.00001
|
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)
|
rs397508763
|
0.00001
|
NM_000492.4(CFTR):c.625G>T (p.Ala209Ser)
|
rs397508772
|
0.00001
|
NM_000492.4(CFTR):c.721G>A (p.Gly241Arg)
|
rs397508789
|
0.00001
|
NM_000492.4(CFTR):c.773G>T (p.Arg258Ile)
|
rs377514639
|
0.00001
|
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)
|
rs397508804
|
0.00001
|
NM_000492.4(CFTR):c.869+14A>G
|
rs1554380834
|
0.00001
|
NM_000492.4(CFTR):c.925G>A (p.Ala309Thr)
|
rs148013312
|
0.00001
|
NM_000492.4(CFTR):c.944T>C (p.Phe315Ser)
|
rs760319837
|
0.00001
|
NM_000492.4(CFTR):c.960A>T (p.Leu320Phe)
|
rs56093012
|
0.00001
|
NM_000492.4(CFTR):c.980T>G (p.Leu327Arg)
|
rs141115171
|
0.00001
|
NM_000492.4(CFTR):c.992T>A (p.Ile331Asn)
|
rs397508825
|
0.00001
|
NM_000500.9(CYP21A2):c.49C>T (p.Arg17Cys)
|
rs757608533
|
0.00001
|
NM_000512.5(GALNS):c.758G>A (p.Arg253Gln)
|
rs769560969
|
0.00001
|
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser)
|
rs764070268
|
0.00001
|
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro)
|
rs41529844
|
0.00001
|
NM_000518.4(HBB):c.149C>T (p.Ser50Phe)
|
rs33960931
|
0.00001
|
NM_000518.4(HBB):c.371C>A (p.Thr124Asn)
|
rs33935383
|
0.00001
|
NM_000518.4(HBB):c.44T>C (p.Leu15Pro)
|
rs33935445
|
0.00001
|
NM_000518.5(HBB):c.*104G>A
|
rs1564873881
|
0.00001
|
NM_000518.5(HBB):c.*62A>G
|
rs1046868746
|
0.00001
|
NM_000518.5(HBB):c.*74A>G
|
rs369101035
|
0.00001
|
NM_000518.5(HBB):c.*97G>C
|
rs770911771
|
0.00001
|
NM_000518.5(HBB):c.-100G>A
|
rs281864524
|
0.00001
|
NM_000518.5(HBB):c.-122T>A
|
rs1272414751
|
0.00001
|
NM_000518.5(HBB):c.-4C>T
|
rs1035531758
|
0.00001
|
NM_000518.5(HBB):c.309C>A (p.Asn103Lys)
|
rs34227486
|
0.00001
|
NM_000518.5(HBB):c.316-102C>A
|
rs1468940510
|
0.00001
|
NM_000518.5(HBB):c.316-114C>A
|
rs1003790835
|
0.00001
|
NM_000518.5(HBB):c.316-124A>T
|
rs1184042209
|
0.00001
|
NM_000518.5(HBB):c.316-130T>C
|
rs956857115
|
0.00001
|
NM_000518.5(HBB):c.316-145G>A
|
rs1005042281
|
0.00001
|
NM_000518.5(HBB):c.316-99T>G
|
rs1232651664
|
0.00001
|
NM_000518.5(HBB):c.341T>A (p.Val114Glu)
|
rs34484056
|
0.00001
|
NM_000518.5(HBB):c.353A>G (p.His118Arg)
|
rs33935673
|
0.00001
|
NM_000518.5(HBB):c.380T>C (p.Val127Ala)
|
rs33925391
|
0.00001
|
NM_000518.5(HBB):c.93-15T>C
|
rs35456885
|
0.00001
|
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln)
|
rs745432499
|
0.00001
|
NM_000521.4(HEXB):c.509G>A (p.Arg170Gln)
|
rs759538325
|
0.00001
|
NM_000527.5(LDLR):c.1060+18C>A
|
rs780579614
|
0.00001
|
NM_000527.5(LDLR):c.1186+10G>C
|
rs781336025
|
0.00001
|
NM_000527.5(LDLR):c.1186+5G>C
|
rs879254821
|
0.00001
|
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys)
|
rs193922568
|
0.00001
|
NM_000527.5(LDLR):c.1420C>G (p.Gln474Glu)
|
rs201967266
|
0.00001
|
NM_000527.5(LDLR):c.1587-11C>T
|
rs201957233
|
0.00001
|
NM_000527.5(LDLR):c.1943C>T (p.Ser648Phe)
|
rs1555807266
|
0.00001
|
NM_000527.5(LDLR):c.2075C>G (p.Pro692Arg)
|
rs1568611894
|
0.00001
|
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg)
|
rs766903209
|
0.00001
|
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile)
|
rs547268730
|
0.00001
|
NM_000527.5(LDLR):c.398A>C (p.Asp133Ala)
|
rs1317204420
|
0.00001
|
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro)
|
rs763233960
|
0.00001
|
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)
|
rs771917370
|
0.00001
|
NM_000527.5(LDLR):c.694+8C>T
|
rs370855899
|
0.00001
|
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg)
|
rs879254682
|
0.00001
|
NM_000527.5(LDLR):c.811G>A (p.Val271Ile)
|
rs749220643
|
0.00001
|
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)
|
rs375495026
|
0.00001
|
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys)
|
rs776421777
|
0.00001
|
NM_000527.5(LDLR):c.941-5C>T
|
rs750183389
|
0.00001
|
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His)
|
rs775247526
|
0.00001
|
NM_000531.6(OTC):c.374C>T (p.Thr125Met)
|
rs72554356
|
0.00001
|
NM_000532.5(PCCB):c.182G>A (p.Arg61Gln)
|
rs909550005
|
0.00001
|
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp)
|
rs754752068
|
0.00001
|
NM_000535.7(PMS2):c.1058C>T (p.Ala353Val)
|
rs543676323
|
0.00001
|
NM_000535.7(PMS2):c.1092T>A (p.Asp364Glu)
|
rs370066853
|
0.00001
|
NM_000535.7(PMS2):c.1126C>T (p.Pro376Ser)
|
rs730881911
|
0.00001
|
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr)
|
rs370752614
|
0.00001
|
NM_000535.7(PMS2):c.1397G>C (p.Gly466Ala)
|
rs1339878885
|
0.00001
|
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser)
|
rs373114291
|
0.00001
|
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu)
|
rs587782602
|
0.00001
|
NM_000535.7(PMS2):c.1678T>A (p.Cys560Ser)
|
rs370455197
|
0.00001
|
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val)
|
rs770625733
|
0.00001
|
NM_000535.7(PMS2):c.1720C>G (p.Pro574Ala)
|
rs758018736
|
0.00001
|
NM_000535.7(PMS2):c.1723A>G (p.Asn575Asp)
|
rs142506484
|
0.00001
|
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)
|
rs762100304
|
0.00001
|
NM_000535.7(PMS2):c.2000A>C (p.Glu667Ala)
|
rs1404270894
|
0.00001
|
NM_000535.7(PMS2):c.2007-9T>C
|
rs1194759833
|
0.00001
|
NM_000535.7(PMS2):c.2033T>C (p.Ile678Thr)
|
rs587782553
|
0.00001
|
NM_000535.7(PMS2):c.2081A>T (p.Asp694Val)
|
rs1554295876
|
0.00001
|
NM_000535.7(PMS2):c.2128G>A (p.Glu710Lys)
|
rs1060503131
|
0.00001
|
NM_000535.7(PMS2):c.2175-9G>A
|
rs1057522324
|
0.00001
|
NM_000535.7(PMS2):c.2365A>T (p.Met789Leu)
|
rs377259633
|
0.00001
|
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile)
|
rs368737800
|
0.00001
|
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln)
|
rs1060503143
|
0.00001
|
NM_000535.7(PMS2):c.2412G>C (p.Lys804Asn)
|
rs547715146
|
0.00001
|
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys)
|
rs730881919
|
0.00001
|
NM_000535.7(PMS2):c.244G>A (p.Gly82Ser)
|
rs754191682
|
0.00001
|
NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys)
|
rs587782828
|
0.00001
|
NM_000535.7(PMS2):c.251-9C>G
|
rs1064793639
|
0.00001
|
NM_000535.7(PMS2):c.2526C>G (p.Asn842Lys)
|
rs755478893
|
0.00001
|
NM_000535.7(PMS2):c.289G>A (p.Asp97Asn)
|
rs1395998044
|
0.00001
|
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)
|
rs188006077
|
0.00001
|
NM_000535.7(PMS2):c.353+3G>A
|
rs766373982
|
0.00001
|
NM_000535.7(PMS2):c.354-5C>G
|
rs200591010
|
0.00001
|
NM_000535.7(PMS2):c.354-7C>T
|
rs758471869
|
0.00001
|
NM_000535.7(PMS2):c.354C>T (p.Ser118=)
|
rs760615315
|
0.00001
|
NM_000535.7(PMS2):c.403C>G (p.Leu135Val)
|
rs876658423
|
0.00001
|
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys)
|
rs758561884
|
0.00001
|
NM_000535.7(PMS2):c.647G>T (p.Cys216Phe)
|
rs730881908
|
0.00001
|
NM_000535.7(PMS2):c.740C>G (p.Pro247Arg)
|
rs1173245928
|
0.00001
|
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr)
|
rs775445157
|
0.00001
|
NM_000535.7(PMS2):c.778T>A (p.Ser260Thr)
|
rs1259974071
|
0.00001
|
NM_000535.7(PMS2):c.803+9A>G
|
rs1784516917
|
0.00001
|
NM_000535.7(PMS2):c.804-15A>G
|
rs1448706115
|
0.00001
|
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln)
|
rs375507981
|
0.00001
|
NM_000535.7(PMS2):c.934A>G (p.Met312Val)
|
rs786202567
|
0.00001
|
NM_000535.7(PMS2):c.962T>C (p.Val321Ala)
|
rs186448384
|
0.00001
|
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)
|
rs587782852
|
0.00001
|
NM_000536.4(RAG2):c.1006A>G (p.Lys336Glu)
|
rs1490516072
|
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.1739A>G (p.Asn580Ser)
|
rs373301841
|
0.00001
|
NM_000540.3(RYR1):c.3014G>A (p.Ser1005Asn)
|
rs780145264
|
0.00001
|
NM_000540.3(RYR1):c.328C>T (p.His110Tyr)
|
rs767777113
|
0.00001
|
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp)
|
rs763944786
|
0.00001
|
NM_000540.3(RYR1):c.6797-7C>T
|
rs994688451
|
0.00001
|
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln)
|
rs1387126664
|
0.00001
|
NM_000540.3(RYR1):c.7446T>C (p.Asp2482=)
|
rs374058542
|
0.00001
|
NM_000540.3(RYR1):c.8638G>A (p.Glu2880Lys)
|
rs112772310
|
0.00001
|
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu)
|
rs762652935
|
0.00001
|
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)
|
rs763566905
|
0.00001
|
NM_000543.5(SMPD1):c.1486G>A (p.Gly496Ser)
|
rs1554935371
|
0.00001
|
NM_000543.5(SMPD1):c.1833C>G (p.His611Gln)
|
rs1397949984
|
0.00001
|
NM_000543.5(SMPD1):c.305A>G (p.Asn102Ser)
|
rs373475928
|
0.00001
|
NM_000545.8(HNF1A):c.1243G>A (p.Gly415Arg)
|
rs368683806
|
0.00001
|
NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser)
|
rs200639058
|
0.00001
|
NM_000545.8(HNF1A):c.50T>A (p.Leu17His)
|
rs1480672278
|
0.00001
|
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)
|
rs1286294151
|
0.00001
|
NM_000545.8(HNF1A):c.955G>A (p.Gly319Ser)
|
rs137853240
|
0.00001
|
NM_000546.6(TP53):c.1066G>C (p.Gly356Arg)
|
rs766786605
|
0.00001
|
NM_000546.6(TP53):c.1078G>A (p.Gly360Arg)
|
rs786203298
|
0.00001
|
NM_000546.6(TP53):c.188C>T (p.Ala63Val)
|
rs372201428
|
0.00001
|
NM_000546.6(TP53):c.328C>T (p.Arg110Cys)
|
rs587781371
|
0.00001
|
NM_000546.6(TP53):c.376-2dup
|
rs751253294
|
0.00001
|
NM_000546.6(TP53):c.523C>T (p.Arg175Cys)
|
rs138729528
|
0.00001
|
NM_000546.6(TP53):c.587G>A (p.Arg196Gln)
|
rs483352697
|
0.00001
|
NM_000546.6(TP53):c.800G>A (p.Arg267Gln)
|
rs587780075
|
0.00001
|
NM_000546.6(TP53):c.919+7A>C
|
rs199527475
|
0.00001
|
NM_000546.6(TP53):c.943T>A (p.Ser315Thr)
|
rs762620193
|
0.00001
|
NM_000548.5(TSC2):c.*4C>T
|
rs368282661
|
0.00001
|
NM_000548.5(TSC2):c.1463T>C (p.Val488Ala)
|
rs760205499
|
0.00001
|
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys)
|
rs45517178
|
0.00001
|
NM_000548.5(TSC2):c.3734G>A (p.Arg1245Gln)
|
rs746588726
|
0.00001
|
NM_000548.5(TSC2):c.5299C>G (p.Leu1767Val)
|
rs1051758
|
0.00001
|
NM_000551.4(VHL):c.338G>C (p.Arg113Pro)
|
rs767062290
|
0.00001
|
NM_000551.4(VHL):c.538A>G (p.Ile180Val)
|
rs377715747
|
0.00001
|
NM_000552.5(VWF):c.1319G>A (p.Cys440Tyr)
|
rs372938917
|
0.00001
|
NM_000552.5(VWF):c.1730-5C>T
|
rs569984866
|
0.00001
|
NM_000552.5(VWF):c.3320A>G (p.Tyr1107Cys)
|
rs267607319
|
0.00001
|
NM_000552.5(VWF):c.4079T>C (p.Val1360Ala)
|
rs267607338
|
0.00001
|
NM_000552.5(VWF):c.55G>A (p.Gly19Arg)
|
rs61753983
|
0.00001
|
NM_000642.3(AGL):c.413G>A (p.Gly138Glu)
|
rs773384152
|
0.00001
|
NM_000702.4(ATP1A2):c.2015C>T (p.Ser672Leu)
|
rs145701604
|
0.00001
|
NM_000709.4(BCKDHA):c.836A>G (p.Tyr279Cys)
|
rs367823977
|
0.00001
|
NM_000719.7(CACNA1C):c.2569C>G (p.Pro857Ala)
|
rs1391136601
|
0.00001
|
NM_000719.7(CACNA1C):c.5330G>A (p.Arg1777His)
|
rs189719120
|
0.00001
|
NM_000733.4(CD3E):c.8C>T (p.Ser3Leu)
|
rs771841066
|
0.00001
|
NM_000742.4(CHRNA2):c.724A>G (p.Ser242Gly)
|
rs544814869
|
0.00001
|
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)
|
rs730882199
|
0.00001
|
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys)
|
rs587780327
|
0.00001
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00001
|
NM_000810.4(GABRA5):c.86+1G>A
|
rs375945386
|
0.00001
|
NM_000814.6(GABRB3):c.1078C>T (p.Arg360Trp)
|
rs771568810
|
0.00001
|
NM_000829.4(GRIA4):c.614A>G (p.Gln205Arg)
|
rs769158689
|
0.00001
|
NM_000834.5(GRIN2B):c.998A>G (p.Asn333Ser)
|
rs748965398
|
0.00001
|
NM_000875.5(IGF1R):c.-4A>G
|
rs2052295004
|
0.00001
|
NM_000890.5(KCNJ5):c.590C>T (p.Ala197Val)
|
rs1389181295
|
0.00001
|
NM_000937.5(POLR2A):c.4223G>A (p.Arg1408His)
|
rs1357998618
|
0.00001
|
NM_001003694.2(BRPF1):c.2441G>A (p.Arg814His)
|
rs769038359
|
0.00001
|
NM_001003800.2(BICD2):c.2258+6C>T
|
rs566572599
|
0.00001
|
NM_001005242.3(PKP2):c.1129A>G (p.Ile377Val)
|
rs1565596114
|
0.00001
|
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile)
|
rs192041220
|
0.00001
|
NM_001005242.3(PKP2):c.1574G>A (p.Gly525Asp)
|
rs898915439
|
0.00001
|
NM_001005242.3(PKP2):c.1985T>C (p.Leu662Pro)
|
rs878854709
|
0.00001
|
NM_001005242.3(PKP2):c.224G>A (p.Gly75Glu)
|
rs267603443
|
0.00001
|
NM_001005242.3(PKP2):c.746G>A (p.Ser249Asn)
|
rs1085307949
|
0.00001
|
NM_001005242.3(PKP2):c.934T>G (p.Ser312Ala)
|
rs756604557
|
0.00001
|
NM_001005273.3(CHD3):c.1510G>A (p.Val504Met)
|
rs752833740
|
0.00001
|
NM_001007553.3(CSDE1):c.989G>A (p.Arg330Gln)
|
rs777390495
|
0.00001
|
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser)
|
rs121908046
|
0.00001
|
NM_001008216.2(GALE):c.658C>T (p.Arg220Trp)
|
rs764909409
|
0.00001
|
NM_001008537.3(NEXMIF):c.502G>A (p.Gly168Ser)
|
rs771489500
|
0.00001
|
NM_001018005.2(TPM1):c.673A>G (p.Ile225Val)
|
rs193922410
|
0.00001
|
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val)
|
rs199476322
|
0.00001
|
NM_001018113.3(FANCB):c.230T>C (p.Met77Thr)
|
rs753536320
|
0.00001
|
NM_001018113.3(FANCB):c.2521A>G (p.Lys841Glu)
|
rs767194178
|
0.00001
|
NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln)
|
rs755975980
|
0.00001
|
NM_001018115.3(FANCD2):c.4281+69G>A
|
rs754606069
|
0.00001
|
NM_001025603.2(RFX5):c.37A>G (p.Thr13Ala)
|
rs746726678
|
0.00001
|
NM_001032283.3(TMPO):c.565+1275A>G
|
rs763320036
|
0.00001
|
NM_001032283.3(TMPO):c.565+2178G>A
|
rs1343917914
|
0.00001
|
NM_001033855.3(DCLRE1C):c.251C>G (p.Ser84Cys)
|
rs747849702
|
0.00001
|
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr)
|
rs1317003987
|
0.00001
|
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe)
|
rs377712921
|
0.00001
|
NM_001035.3(RYR2):c.10142+4T>C
|
rs397516496
|
0.00001
|
NM_001035.3(RYR2):c.10266G>C (p.Gln3422His)
|
rs368064371
|
0.00001
|
NM_001035.3(RYR2):c.10529G>T (p.Arg3510Leu)
|
rs375947003
|
0.00001
|
NM_001035.3(RYR2):c.11036A>G (p.Lys3679Arg)
|
rs758125356
|
0.00001
|
NM_001035.3(RYR2):c.11484G>T (p.Lys3828Asn)
|
rs1200279072
|
0.00001
|
NM_001035.3(RYR2):c.1170+10T>C
|
rs760377600
|
0.00001
|
NM_001035.3(RYR2):c.13379A>G (p.Gln4460Arg)
|
rs762879895
|
0.00001
|
NM_001035.3(RYR2):c.13984G>A (p.Gly4662Ser)
|
rs886039213
|
0.00001
|
NM_001035.3(RYR2):c.14152-3T>C
|
rs376797615
|
0.00001
|
NM_001035.3(RYR2):c.1526G>A (p.Ser509Asn)
|
rs1558850631
|
0.00001
|
NM_001035.3(RYR2):c.2306G>A (p.Arg769Gln)
|
rs754901791
|
0.00001
|
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu)
|
rs371157868
|
0.00001
|
NM_001035.3(RYR2):c.284T>A (p.Val95Glu)
|
rs900519025
|
0.00001
|
NM_001035.3(RYR2):c.463+10T>C
|
rs193922627
|
0.00001
|
NM_001035.3(RYR2):c.5575G>A (p.Glu1859Lys)
|
rs755584806
|
0.00001
|
NM_001035.3(RYR2):c.5821C>A (p.Arg1941Ser)
|
rs754811291
|
0.00001
|
NM_001035.3(RYR2):c.5916+9A>G
|
rs1002006336
|
0.00001
|
NM_001035.3(RYR2):c.616G>A (p.Ala206Thr)
|
rs930769080
|
0.00001
|
NM_001035.3(RYR2):c.7040T>C (p.Met2347Thr)
|
rs1177415020
|
0.00001
|
NM_001035.3(RYR2):c.773+18T>C
|
rs758435186
|
0.00001
|
NM_001035.3(RYR2):c.7733+12A>C
|
rs1024864893
|
0.00001
|
NM_001035.3(RYR2):c.8714+20A>G
|
rs1176577543
|
0.00001
|
NM_001035.3(RYR2):c.9295G>C (p.Val3099Leu)
|
rs745616771
|
0.00001
|
NM_001035.3(RYR2):c.9874G>A (p.Glu3292Lys)
|
rs553445235
|
0.00001
|
NM_001037.5(SCN1B):c.374G>A (p.Arg125His)
|
rs759839781
|
0.00001
|
NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro)
|
rs786205834
|
0.00001
|
NM_001039213.4(CEACAM16):c.623G>A (p.Ser208Asn)
|
rs573717477
|
0.00001
|
NM_001039591.3(USP9X):c.437G>A (p.Arg146Lys)
|
rs374612695
|
0.00001
|
NM_001041.4(SI):c.3236G>T (p.Arg1079Ile)
|
rs1307836828
|
0.00001
|
NM_001042492.3(NF1):c.1392+7T>C
|
rs773017698
|
0.00001
|
NM_001042492.3(NF1):c.1549G>A (p.Glu517Lys)
|
rs587778548
|
0.00001
|
NM_001042492.3(NF1):c.1769T>C (p.Met590Thr)
|
rs761559887
|
0.00001
|
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val)
|
rs745906742
|
0.00001
|
NM_001042492.3(NF1):c.2189A>C (p.Asn730Thr)
|
rs778033578
|
0.00001
|
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala)
|
rs748064845
|
0.00001
|
NM_001042492.3(NF1):c.2447G>A (p.Arg816Gln)
|
rs762709897
|
0.00001
|
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro)
|
rs768425956
|
0.00001
|
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr)
|
rs754639587
|
0.00001
|
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn)
|
rs876660093
|
0.00001
|
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala)
|
rs747584987
|
0.00001
|
NM_001042492.3(NF1):c.541C>G (p.Gln181Glu)
|
rs753529924
|
0.00001
|
NM_001042492.3(NF1):c.5610-7C>T
|
rs553657123
|
0.00001
|
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser)
|
rs1024333224
|
0.00001
|
NM_001042492.3(NF1):c.6819+6T>C
|
rs1407700643
|
0.00001
|
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val)
|
rs137966859
|
0.00001
|
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val)
|
rs748027595
|
0.00001
|
NM_001042492.3(NF1):c.7645T>C (p.Ser2549Pro)
|
rs767458044
|
0.00001
|
NM_001042492.3(NF1):c.7822G>C (p.Glu2608Gln)
|
rs1597866487
|
0.00001
|
NM_001042492.3(NF1):c.7841A>G (p.Lys2614Arg)
|
rs587781502
|
0.00001
|
NM_001042492.3(NF1):c.8378-4C>T
|
rs587782700
|
0.00001
|
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro)
|
rs587782686
|
0.00001
|
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg)
|
rs778233452
|
0.00001
|
NM_001042545.2(LTBP4):c.1274G>A (p.Arg425His)
|
rs566716472
|
0.00001
|
NM_001042545.2(LTBP4):c.1870C>T (p.Pro624Ser)
|
rs903754296
|
0.00001
|
NM_001042681.2(RERE):c.2557G>A (p.Gly853Ser)
|
rs1297285666
|
0.00001
|
NM_001044385.3(TMEM237):c.869+5T>C
|
rs530769303
|
0.00001
|
NM_001048174.2(MUTYH):c.1217C>T (p.Thr406Met)
|
rs587780084
|
0.00001
|
NM_001048174.2(MUTYH):c.1484G>A (p.Arg495His)
|
rs374655042
|
0.00001
|
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg)
|
rs558707786
|
0.00001
|
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)
|
rs755653922
|
0.00001
|
NM_001048174.2(MUTYH):c.293G>A (p.Arg98Gln)
|
rs587781444
|
0.00001
|
NM_001048174.2(MUTYH):c.310G>A (p.Val104Ile)
|
rs763273196
|
0.00001
|
NM_001048174.2(MUTYH):c.409G>A (p.Ala137Thr)
|
rs201103359
|
0.00001
|
NM_001048174.2(MUTYH):c.427A>G (p.Asn143Asp)
|
rs773674701
|
0.00001
|
NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys)
|
rs537292657
|
0.00001
|
NM_001048174.2(MUTYH):c.595G>A (p.Ala199Thr)
|
rs369854269
|
0.00001
|
NM_001048174.2(MUTYH):c.635C>T (p.Ala212Val)
|
rs369120013
|
0.00001
|
NM_001048174.2(MUTYH):c.796C>T (p.Arg266Cys)
|
rs199840380
|
0.00001
|
NM_001048174.2(MUTYH):c.820G>T (p.Val274Leu)
|
rs760889663
|
0.00001
|
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu)
|
rs558173961
|
0.00001
|
NM_001048174.2(MUTYH):c.914-8G>A
|
rs757672024
|
0.00001
|
NM_001063.4(TF):c.1180G>A (p.Glu394Lys)
|
rs121918680
|
0.00001
|
NM_001077418.3(TMEM231):c.944T>G (p.Leu315Ter)
|
rs756652972
|
0.00001
|
NM_001079.4(ZAP70):c.329C>T (p.Pro110Leu)
|
rs1263938808
|
0.00001
|
NM_001079802.2(FKTN):c.1298C>T (p.Thr433Met)
|
rs201590151
|
0.00001
|
NM_001079866.2(BCS1L):c.413C>T (p.Thr138Met)
|
rs775793638
|
0.00001
|
NM_001080414.4(CCDC88C):c.3904G>A (p.Glu1302Lys)
|
rs761146967
|
0.00001
|
NM_001082486.2(ACD):c.124G>A (p.Val42Ile)
|
rs758513965
|
0.00001
|
NM_001082538.3(TCTN1):c.1034C>T (p.Ser345Leu)
|
rs764428510
|
0.00001
|
NM_001082971.2(DDC):c.710T>C (p.Phe237Ser)
|
rs755511614
|
0.00001
|
NM_001082971.2(DDC):c.73G>A (p.Glu25Lys)
|
rs756869400
|
0.00001
|
NM_001083116.3(PRF1):c.512C>A (p.Thr171Asn)
|
rs1455960914
|
0.00001
|
NM_001083116.3(PRF1):c.559C>T (p.Pro187Ser)
|
rs780042742
|
0.00001
|
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp)
|
rs202217604
|
0.00001
|
NM_001083614.2(EARS2):c.610G>A (p.Gly204Ser)
|
rs397514592
|
0.00001
|
NM_001085049.3(MRAS):c.*6C>G
|
rs969101151
|
0.00001
|
NM_001085049.3(MRAS):c.16G>A (p.Val6Ile)
|
rs778102030
|
0.00001
|
NM_001085049.3(MRAS):c.348-17G>A
|
rs574806189
|
0.00001
|
NM_001099274.3(TINF2):c.802G>C (p.Val268Leu)
|
rs369926102
|
0.00001
|
NM_001099922.3(ALG13):c.1643T>C (p.Val548Ala)
|
rs1238751751
|
0.00001
|
NM_001100913.3(PACS2):c.1781-7C>T
|
rs1555412976
|
0.00001
|
NM_001100913.3(PACS2):c.2630A>G (p.Lys877Arg)
|
rs782685668
|
0.00001
|
NM_001105206.3(LAMA4):c.153C>A (p.Ser51Arg)
|
rs782192817
|
0.00001
|
NM_001110556.2(FLNA):c.2521C>T (p.Arg841Trp)
|
rs782772998
|
0.00001
|
NM_001110556.2(FLNA):c.4069C>T (p.Arg1357Trp)
|
rs373073505
|
0.00001
|
NM_001110556.2(FLNA):c.6415C>T (p.Arg2139Trp)
|
rs782761341
|
0.00001
|
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe)
|
rs1340029095
|
0.00001
|
NM_001111125.3(IQSEC2):c.2000A>G (p.Asn667Ser)
|
rs782321409
|
0.00001
|
NM_001122630.2(CDKN1C):c.377C>T (p.Pro126Leu)
|
rs1445830484
|
0.00001
|
NM_001122769.3(LCA5):c.1418A>C (p.Glu473Ala)
|
rs550772415
|
0.00001
|
NM_001122769.3(LCA5):c.2T>C (p.Met1Thr)
|
rs1331645027
|
0.00001
|
NM_001122955.4(BSCL2):c.485G>A (p.Arg162Gln)
|
rs768780378
|
0.00001
|
NM_001126049.2(KLLN):c.-1018C>T
|
rs1858332063
|
0.00001
|
NM_001126049.2(KLLN):c.-1027G>A
|
rs1355012894
|
0.00001
|
NM_001126108.2(SLC12A3):c.1258G>A (p.Ala420Thr)
|
rs137970015
|
0.00001
|
NM_001127222.2(CACNA1A):c.1189T>G (p.Ser397Ala)
|
rs745753973
|
0.00001
|
NM_001127222.2(CACNA1A):c.1393T>G (p.Ser465Ala)
|
rs1195950626
|
0.00001
|
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=)
|
rs756972061
|
0.00001
|
NM_001127222.2(CACNA1A):c.2818A>G (p.Arg940Gly)
|
rs778220824
|
0.00001
|
NM_001127222.2(CACNA1A):c.979-7C>T
|
rs1375150525
|
0.00001
|
NM_001127644.2(GABRA1):c.1297A>G (p.Ile433Val)
|
rs1057518405
|
0.00001
|
NM_001128159.3(VPS53):c.1213G>C (p.Asp405His)
|
rs1326877109
|
0.00001
|
NM_001128225.3(SLC39A13):c.616G>A (p.Gly206Ser)
|
rs772303012
|
0.00001
|
NM_001128425.2(MUTYH):c.167G>A (p.Gly56Glu)
|
rs587781374
|
0.00001
|
NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val)
|
rs587780747
|
0.00001
|
NM_001130438.3(SPTAN1):c.649C>G (p.Gln217Glu)
|
rs756290749
|
0.00001
|
NM_001130987.2(DYSF):c.1150-21C>T
|
rs532850915
|
0.00001
|
NM_001130987.2(DYSF):c.1499G>A (p.Arg500His)
|
rs775370021
|
0.00001
|
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His)
|
rs759675023
|
0.00001
|
NM_001130987.2(DYSF):c.2816C>T (p.Ser939Leu)
|
rs535323489
|
0.00001
|
NM_001130987.2(DYSF):c.722C>T (p.Ser241Phe)
|
rs754343148
|
0.00001
|
NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu)
|
rs1258728780
|
0.00001
|
NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys)
|
rs369835514
|
0.00001
|
NM_001134363.3(RBM20):c.676G>A (p.Ala226Thr)
|
rs1033220280
|
0.00001
|
NM_001134407.3(GRIN2A):c.3722G>A (p.Arg1241Gln)
|
rs886042648
|
0.00001
|
NM_001134407.3(GRIN2A):c.3809A>T (p.Asp1270Val)
|
rs750649530
|
0.00001
|
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg)
|
rs1264460804
|
0.00001
|
NM_001139.3(ALOX12B):c.1324C>T (p.Arg442Trp)
|
rs764862348
|
0.00001
|
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu)
|
rs548565748
|
0.00001
|
NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp)
|
rs762212630
|
0.00001
|
NM_001142800.2(EYS):c.3443G>A (p.Arg1148Lys)
|
rs1334016191
|
0.00001
|
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro)
|
rs1278246029
|
0.00001
|
NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp)
|
rs886061672
|
0.00001
|
NM_001142800.2(EYS):c.7775G>A (p.Gly2592Glu)
|
rs1471859071
|
0.00001
|
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro)
|
rs569561277
|
0.00001
|
NM_001142800.2(EYS):c.939T>G (p.Ser313Arg)
|
rs774342993
|
0.00001
|
NM_001144967.3(NEDD4L):c.482A>G (p.Glu161Gly)
|
rs746022345
|
0.00001
|
NM_001145809.2(MYH14):c.-3-6C>T
|
rs886054586
|
0.00001
|
NM_001145809.2(MYH14):c.4987C>T (p.Arg1663Trp)
|
rs375795690
|
0.00001
|
NM_001145809.2(MYH14):c.5042A>G (p.Glu1681Gly)
|
rs1206556550
|
0.00001
|
NM_001145809.2(MYH14):c.5534G>A (p.Arg1845Gln)
|
rs201040702
|
0.00001
|
NM_001148.6(ANK2):c.10562C>T (p.Pro3521Leu)
|
rs766421377
|
0.00001
|
NM_001148.6(ANK2):c.10645C>T (p.Arg3549Cys)
|
rs1056477885
|
0.00001
|
NM_001148.6(ANK2):c.4393C>A (p.Gln1465Lys)
|
rs761254386
|
0.00001
|
NM_001148.6(ANK2):c.6601A>G (p.Ser2201Gly)
|
rs201717651
|
0.00001
|
NM_001148.6(ANK2):c.7247G>A (p.Arg2416Gln)
|
rs766001488
|
0.00001
|
NM_001148.6(ANK2):c.9145C>T (p.Arg3049Trp)
|
rs1201870166
|
0.00001
|
NM_001159699.2(FHL1):c.204+6G>A
|
rs763404867
|
0.00001
|
NM_001161352.2(KCNMA1):c.3147+10C>T
|
rs777007748
|
0.00001
|
NM_001163435.3(TBCK):c.659-19T>C
|
rs1212469599
|
0.00001
|
NM_001164277.2(SLC37A4):c.1124+2dup
|
rs1459811938
|
0.00001
|
NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg)
|
rs1272300904
|
0.00001
|
NM_001164508.2(NEB):c.10418T>A (p.Met3473Lys)
|
rs1199616055
|
0.00001
|
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)
|
rs1255744452
|
0.00001
|
NM_001164508.2(NEB):c.17179A>G (p.Arg5727Gly)
|
rs1165026867
|
0.00001
|
NM_001164508.2(NEB):c.17634+5G>A
|
rs749700121
|
0.00001
|
NM_001164508.2(NEB):c.20113G>A (p.Val6705Ile)
|
rs774095156
|
0.00001
|
NM_001164508.2(NEB):c.24556C>T (p.Arg8186Cys)
|
rs765313781
|
0.00001
|
NM_001164508.2(NEB):c.4299+9G>A
|
rs746505680
|
0.00001
|
NM_001164508.2(NEB):c.6478A>T (p.Asn2160Tyr)
|
rs2099084057
|
0.00001
|
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)
|
rs750548574
|
0.00001
|
NM_001164508.2(NEB):c.8791A>G (p.Lys2931Glu)
|
rs1049915348
|
0.00001
|
NM_001165963.4(SCN1A):c.1171-19C>A
|
rs929127955
|
0.00001
|
NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr)
|
rs758871507
|
0.00001
|
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser)
|
rs398123591
|
0.00001
|
NM_001170629.2(CHD8):c.7045G>C (p.Val2349Leu)
|
rs754271832
|
0.00001
|
NM_001174089.2(SLC4A11):c.1861C>T (p.Arg621Cys)
|
rs754299888
|
0.00001
|
NM_001174150.2(ARL13B):c.963G>C (p.Lys321Asn)
|
rs2076893671
|
0.00001
|
NM_001184880.2(PCDH19):c.2509A>G (p.Asn837Asp)
|
rs1284670769
|
0.00001
|
NM_001197104.2(KMT2A):c.11322-6C>A
|
rs1950921220
|
0.00001
|
NM_001197104.2(KMT2A):c.82G>T (p.Gly28Trp)
|
rs782113710
|
0.00001
|
NM_001199753.2(CPT1C):c.740C>T (p.Pro247Leu)
|
rs765359581
|
0.00001
|
NM_001201543.2(FAM161A):c.2020G>T (p.Glu674Ter)
|
rs998875938
|
0.00001
|
NM_001206744.2(TPO):c.2077C>T (p.Arg693Trp)
|
rs121908087
|
0.00001
|
NM_001211.6(BUB1B):c.1919C>T (p.Pro640Leu)
|
rs370388424
|
0.00001
|
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro)
|
rs28989185
|
0.00001
|
NM_001242896.3(DEPDC5):c.3623C>T (p.Ala1208Val)
|
rs772280549
|
0.00001
|
NM_001243279.3(ACSF3):c.1061G>A (p.Arg354Gln)
|
rs544775512
|
0.00001
|
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)
|
rs387907119
|
0.00001
|
NM_001244008.2(KIF1A):c.1360G>A (p.Ala454Thr)
|
rs1575598898
|
0.00001
|
NM_001244008.2(KIF1A):c.2479C>T (p.Arg827Cys)
|
rs376012799
|
0.00001
|
NM_001244008.2(KIF1A):c.3829C>T (p.Arg1277Trp)
|
rs374076405
|
0.00001
|
NM_001244008.2(KIF1A):c.5095G>A (p.Val1699Met)
|
rs1559472826
|
0.00001
|
NM_001244189.2(KIAA0586):c.1A>G (p.Met1Val)
|
rs1298293774
|
0.00001
|
NM_001244710.2(GFPT1):c.2055+1G>T
|
rs868258818
|
0.00001
|
NM_001261826.3(AP3D1):c.2329G>A (p.Val777Ile)
|
rs775564429
|
0.00001
|
NM_001261826.3(AP3D1):c.2711C>T (p.Pro904Leu)
|
rs535799229
|
0.00001
|
NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys)
|
rs943777958
|
0.00001
|
NM_001267550.2(TTN):c.101875G>A (p.Glu33959Lys)
|
rs886055224
|
0.00001
|
NM_001267550.2(TTN):c.102638A>G (p.Asn34213Ser)
|
rs375332499
|
0.00001
|
NM_001267550.2(TTN):c.103780C>T (p.Arg34594Cys)
|
rs879240376
|
0.00001
|
NM_001267550.2(TTN):c.105134A>T (p.Asp35045Val)
|
rs1001393566
|
0.00001
|
NM_001267550.2(TTN):c.105449G>A (p.Cys35150Tyr)
|
rs554953169
|
0.00001
|
NM_001267550.2(TTN):c.106117C>A (p.Gln35373Lys)
|
rs778126842
|
0.00001
|
NM_001267550.2(TTN):c.14095G>T (p.Ala4699Ser)
|
rs1172448062
|
0.00001
|
NM_001267550.2(TTN):c.15495A>C (p.Lys5165Asn)
|
rs794729608
|
0.00001
|
NM_001267550.2(TTN):c.16790C>T (p.Ser5597Phe)
|
rs754116386
|
0.00001
|
NM_001267550.2(TTN):c.17279C>T (p.Thr5760Met)
|
rs770310501
|
0.00001
|
NM_001267550.2(TTN):c.17326A>G (p.Ile5776Val)
|
rs767553328
|
0.00001
|
NM_001267550.2(TTN):c.17461+14G>A
|
rs751425418
|
0.00001
|
NM_001267550.2(TTN):c.17717G>T (p.Cys5906Phe)
|
rs1239818599
|
0.00001
|
NM_001267550.2(TTN):c.19036G>A (p.Val6346Met)
|
rs537966944
|
0.00001
|
NM_001267550.2(TTN):c.20317C>T (p.Leu6773Phe)
|
rs189557659
|
0.00001
|
NM_001267550.2(TTN):c.20633A>C (p.Glu6878Ala)
|
rs752107739
|
0.00001
|
NM_001267550.2(TTN):c.20836+9A>G
|
rs982238257
|
0.00001
|
NM_001267550.2(TTN):c.21107A>T (p.Asp7036Val)
|
rs767695386
|
0.00001
|
NM_001267550.2(TTN):c.21172G>C (p.Gly7058Arg)
|
rs786205401
|
0.00001
|
NM_001267550.2(TTN):c.21524G>C (p.Arg7175Thr)
|
rs1578045796
|
0.00001
|
NM_001267550.2(TTN):c.2203T>C (p.Tyr735His)
|
rs754432983
|
0.00001
|
NM_001267550.2(TTN):c.2260G>A (p.Ala754Thr)
|
rs754073908
|
0.00001
|
NM_001267550.2(TTN):c.25832A>G (p.Asn8611Ser)
|
rs779262321
|
0.00001
|
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr)
|
rs369108107
|
0.00001
|
NM_001267550.2(TTN):c.29078C>T (p.Ala9693Val)
|
rs767793508
|
0.00001
|
NM_001267550.2(TTN):c.29857G>T (p.Gly9953Cys)
|
rs770212603
|
0.00001
|
NM_001267550.2(TTN):c.31426+1G>C
|
rs6749719
|
0.00001
|
NM_001267550.2(TTN):c.3164+13G>C
|
rs750352603
|
0.00001
|
NM_001267550.2(TTN):c.32011+15T>G
|
rs886055285
|
0.00001
|
NM_001267550.2(TTN):c.32858C>T (p.Ala10953Val)
|
rs773225325
|
0.00001
|
NM_001267550.2(TTN):c.34612+1G>A
|
rs577363824
|
0.00001
|
NM_001267550.2(TTN):c.34650A>C (p.Glu11550Asp)
|
rs747549288
|
0.00001
|
NM_001267550.2(TTN):c.34670C>T (p.Pro11557Leu)
|
rs887706962
|
0.00001
|
NM_001267550.2(TTN):c.3785T>C (p.Ile1262Thr)
|
rs752505720
|
0.00001
|
NM_001267550.2(TTN):c.39284C>A (p.Pro13095His)
|
rs770419196
|
0.00001
|
NM_001267550.2(TTN):c.39715G>T (p.Glu13239Ter)
|
rs879110681
|
0.00001
|
NM_001267550.2(TTN):c.40558+4T>C
|
rs398124451
|
0.00001
|
NM_001267550.2(TTN):c.40595T>G (p.Val13532Gly)
|
rs756446770
|
0.00001
|
NM_001267550.2(TTN):c.40669G>A (p.Val13557Ile)
|
rs1170853214
|
0.00001
|
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly)
|
rs370978752
|
0.00001
|
NM_001267550.2(TTN):c.40877-7A>G
|
rs727505201
|
0.00001
|
NM_001267550.2(TTN):c.4101C>A (p.Ser1367Arg)
|
rs1307238681
|
0.00001
|
NM_001267550.2(TTN):c.42252A>G (p.Ile14084Met)
|
rs1163597313
|
0.00001
|
NM_001267550.2(TTN):c.42401G>A (p.Arg14134Gln)
|
rs764083952
|
0.00001
|
NM_001267550.2(TTN):c.43478A>G (p.Glu14493Gly)
|
rs1316766072
|
0.00001
|
NM_001267550.2(TTN):c.44816C>G (p.Pro14939Arg)
|
rs1186119697
|
0.00001
|
NM_001267550.2(TTN):c.45369C>G (p.Ile15123Met)
|
rs1160173197
|
0.00001
|
NM_001267550.2(TTN):c.45895G>A (p.Glu15299Lys)
|
rs397517582
|
0.00001
|
NM_001267550.2(TTN):c.48446T>C (p.Met16149Thr)
|
rs760582847
|
0.00001
|
NM_001267550.2(TTN):c.48498T>G (p.Asp16166Glu)
|
rs1429263816
|
0.00001
|
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys)
|
rs185789611
|
0.00001
|
NM_001267550.2(TTN):c.51355T>G (p.Phe17119Val)
|
rs370696020
|
0.00001
|
NM_001267550.2(TTN):c.52397A>G (p.Asp17466Gly)
|
rs377156953
|
0.00001
|
NM_001267550.2(TTN):c.54380G>C (p.Gly18127Ala)
|
rs371971395
|
0.00001
|
NM_001267550.2(TTN):c.54532C>T (p.Arg18178Cys)
|
rs554701601
|
0.00001
|
NM_001267550.2(TTN):c.54646G>A (p.Val18216Ile)
|
rs2054164910
|
0.00001
|
NM_001267550.2(TTN):c.55340C>T (p.Pro18447Leu)
|
rs397517622
|
0.00001
|
NM_001267550.2(TTN):c.57018T>A (p.Asp19006Glu)
|
rs780515211
|
0.00001
|
NM_001267550.2(TTN):c.58490T>C (p.Met19497Thr)
|
rs375365886
|
0.00001
|
NM_001267550.2(TTN):c.60059G>A (p.Gly20020Asp)
|
rs1430427636
|
0.00001
|
NM_001267550.2(TTN):c.60221-15A>G
|
rs979267983
|
0.00001
|
NM_001267550.2(TTN):c.60266T>C (p.Val20089Ala)
|
rs886039085
|
0.00001
|
NM_001267550.2(TTN):c.62124G>T (p.Arg20708Ser)
|
rs377175428
|
0.00001
|
NM_001267550.2(TTN):c.63332C>T (p.Ser21111Phe)
|
rs547033801
|
0.00001
|
NM_001267550.2(TTN):c.64001A>G (p.Asn21334Ser)
|
rs753121509
|
0.00001
|
NM_001267550.2(TTN):c.64283T>C (p.Val21428Ala)
|
rs1576014979
|
0.00001
|
NM_001267550.2(TTN):c.6462C>G (p.Ile2154Met)
|
rs780879621
|
0.00001
|
NM_001267550.2(TTN):c.65486A>G (p.Gln21829Arg)
|
rs886038921
|
0.00001
|
NM_001267550.2(TTN):c.66332T>A (p.Ile22111Lys)
|
rs374614550
|
0.00001
|
NM_001267550.2(TTN):c.66545A>G (p.Tyr22182Cys)
|
rs879016147
|
0.00001
|
NM_001267550.2(TTN):c.67051G>T (p.Val22351Leu)
|
rs764048936
|
0.00001
|
NM_001267550.2(TTN):c.6791-11A>G
|
rs368202177
|
0.00001
|
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)
|
rs727505352
|
0.00001
|
NM_001267550.2(TTN):c.68825-7T>A
|
rs767881914
|
0.00001
|
NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser)
|
rs758398301
|
0.00001
|
NM_001267550.2(TTN):c.70013G>A (p.Arg23338Gln)
|
rs78916558
|
0.00001
|
NM_001267550.2(TTN):c.71624C>A (p.Thr23875Asn)
|
rs771783837
|
0.00001
|
NM_001267550.2(TTN):c.72317A>C (p.Asn24106Thr)
|
rs1386956312
|
0.00001
|
NM_001267550.2(TTN):c.74047G>A (p.Glu24683Lys)
|
rs755064877
|
0.00001
|
NM_001267550.2(TTN):c.76087C>T (p.Arg25363Cys)
|
rs757511354
|
0.00001
|
NM_001267550.2(TTN):c.77049T>G (p.Ile25683Met)
|
rs755225678
|
0.00001
|
NM_001267550.2(TTN):c.7783A>G (p.Met2595Val)
|
rs760786665
|
0.00001
|
NM_001267550.2(TTN):c.79342G>A (p.Val26448Met)
|
rs1380054566
|
0.00001
|
NM_001267550.2(TTN):c.79636A>G (p.Thr26546Ala)
|
rs775053902
|
0.00001
|
NM_001267550.2(TTN):c.80209T>A (p.Cys26737Ser)
|
rs566764105
|
0.00001
|
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr)
|
rs368263400
|
0.00001
|
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val)
|
rs727504723
|
0.00001
|
NM_001267550.2(TTN):c.85756A>G (p.Ile28586Val)
|
rs1187128207
|
0.00001
|
NM_001267550.2(TTN):c.85861T>C (p.Tyr28621His)
|
rs751308383
|
0.00001
|
NM_001267550.2(TTN):c.86638T>G (p.Tyr28880Asp)
|
rs1244106142
|
0.00001
|
NM_001267550.2(TTN):c.87077C>T (p.Pro29026Leu)
|
rs876658090
|
0.00001
|
NM_001267550.2(TTN):c.88059C>A (p.Ser29353Arg)
|
rs1311421658
|
0.00001
|
NM_001267550.2(TTN):c.89258T>A (p.Leu29753His)
|
rs369279892
|
0.00001
|
NM_001267550.2(TTN):c.89425C>T (p.Arg29809Trp)
|
rs112777680
|
0.00001
|
NM_001267550.2(TTN):c.89492A>C (p.Lys29831Thr)
|
rs1404072291
|
0.00001
|
NM_001267550.2(TTN):c.92383G>A (p.Val30795Ile)
|
rs369025866
|
0.00001
|
NM_001267550.2(TTN):c.94142T>C (p.Phe31381Ser)
|
rs751185223
|
0.00001
|
NM_001267550.2(TTN):c.95021T>C (p.Val31674Ala)
|
rs754222897
|
0.00001
|
NM_001267550.2(TTN):c.95431C>T (p.Pro31811Ser)
|
rs373291051
|
0.00001
|
NM_001267550.2(TTN):c.95486C>G (p.Thr31829Arg)
|
rs762048345
|
0.00001
|
NM_001267550.2(TTN):c.95494G>A (p.Glu31832Lys)
|
rs753982218
|
0.00001
|
NM_001267550.2(TTN):c.95728C>T (p.Pro31910Ser)
|
rs199618831
|
0.00001
|
NM_001267550.2(TTN):c.96985C>T (p.Pro32329Ser)
|
rs759641873
|
0.00001
|
NM_001267550.2(TTN):c.97201G>C (p.Gly32401Arg)
|
rs1371025709
|
0.00001
|
NM_001267550.2(TTN):c.9802C>T (p.Pro3268Ser)
|
rs912372716
|
0.00001
|
NM_001267550.2(TTN):c.9989-16T>C
|
rs564482474
|
0.00001
|
NM_001271938.2(MEGF8):c.584C>T (p.Pro195Leu)
|
rs1305476517
|
0.00001
|
NM_001271938.2(MEGF8):c.901G>A (p.Gly301Ser)
|
rs369528104
|
0.00001
|
NM_001276345.2(TNNT2):c.254T>G (p.Val85Gly)
|
rs730881095
|
0.00001
|
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile)
|
rs397516482
|
0.00001
|
NM_001278293.3(ARL6):c.291T>A (p.Ser97Arg)
|
rs2037381055
|
0.00001
|
NM_001278512.2(AP3B2):c.1256G>A (p.Arg419His)
|
rs750705900
|
0.00001
|
NM_001282426.2(PIK3CG):c.1480C>T (p.Gln494Ter)
|
rs1584318294
|
0.00001
|
NM_001283009.2(RTEL1):c.1877A>G (p.Lys626Arg)
|
rs1018679403
|
0.00001
|
NM_001283009.2(RTEL1):c.637C>T (p.Arg213Trp)
|
rs560281693
|
0.00001
|
NM_001286.5(CLCN6):c.1561T>G (p.Phe521Val)
|
rs776387131
|
0.00001
|
NM_001289.6(CLIC2):c.454A>G (p.Thr152Ala)
|
rs1557316156
|
0.00001
|
NM_001291303.3(FAT4):c.11482G>A (p.Val3828Ile)
|
rs773534151
|
0.00001
|
NM_001291415.2(KDM6A):c.533A>G (p.Lys178Arg)
|
rs758358984
|
0.00001
|
NM_001291867.2(NHS):c.691C>T (p.Arg231Trp)
|
rs749420963
|
0.00001
|
NM_001297.5(CNGB1):c.2294G>A (p.Arg765His)
|
rs761839551
|
0.00001
|
NM_001303052.2(MYT1L):c.1673G>A (p.Arg558His)
|
rs746083137
|
0.00001
|
NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr)
|
rs372297066
|
0.00001
|
NM_001304717.4(PTEN):c.-332G>A
|
rs876661046
|
0.00001
|
NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu)
|
rs587783157
|
0.00001
|
NM_001330.5(CTF1):c.34C>T (p.Gln12Ter)
|
rs369917781
|
0.00001
|
NM_001330078.2(NRXN1):c.1361G>A (p.Arg454Gln)
|
rs199592328
|
0.00001
|
NM_001330260.2(SCN8A):c.80G>A (p.Arg27Lys)
|
rs1303731165
|
0.00001
|
NM_001330574.2(ZNF711):c.1387A>T (p.Thr463Ser)
|
rs1414779618
|
0.00001
|
NM_001347721.2(DYRK1A):c.301-8C>T
|
rs991072716
|
0.00001
|
NM_001348323.3(TRIP12):c.2362A>G (p.Lys788Glu)
|
rs1373424845
|
0.00001
|
NM_001351132.2(PEX5):c.1669C>T (p.Arg557Trp)
|
rs1281539463
|
0.00001
|
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala)
|
rs764148793
|
0.00001
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
NM_001352514.2(HLCS):c.442A>G (p.Met148Val)
|
rs764841449
|
0.00001
|
NM_001353921.2(ARHGEF9):c.475A>G (p.Ile159Val)
|
rs1556389367
|
0.00001
|
NM_001353921.2(ARHGEF9):c.667C>T (p.Arg223Cys)
|
rs782139620
|
0.00001
|
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys)
|
rs371302153
|
0.00001
|
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser)
|
rs1478872904
|
0.00001
|
NM_001360.3(DHCR7):c.232G>A (p.Gly78Arg)
|
rs373352413
|
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.956C>T (p.Thr319Met)
|
rs766583874
|
0.00001
|
NM_001363711.2(DUOX2):c.3116G>A (p.Arg1039Gln)
|
rs772992566
|
0.00001
|
NM_001365088.1(SLC12A6):c.1118+4C>T
|
rs773294017
|
0.00001
|
NM_001365536.1(SCN9A):c.5858C>T (p.Thr1953Ile)
|
rs1222885641
|
0.00001
|
NM_001365536.1(SCN9A):c.5954A>G (p.Glu1985Gly)
|
rs755850299
|
0.00001
|
NM_001365951.3(KIF1B):c.2572A>G (p.Arg858Gly)
|
rs779626536
|
0.00001
|
NM_001365999.1(SZT2):c.2533C>G (p.Leu845Val)
|
rs181729793
|
0.00001
|
NM_001367624.2(ZNF469):c.4271C>A (p.Ser1424Tyr)
|
rs1022664528
|
0.00001
|
NM_001367624.2(ZNF469):c.5384C>A (p.Ala1795Asp)
|
rs1013562167
|
0.00001
|
NM_001367624.2(ZNF469):c.6073G>C (p.Ala2025Pro)
|
rs1318556892
|
0.00001
|
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met)
|
rs273585626
|
0.00001
|
NM_001367721.1(CASK):c.524T>C (p.Val175Ala)
|
rs781247892
|
0.00001
|
NM_001368397.1(FRMPD4):c.1954T>A (p.Ser652Thr)
|
rs1277751974
|
0.00001
|
NM_001369268.1(ACAN):c.512C>T (p.Ala171Val)
|
rs371065660
|
0.00001
|
NM_001369369.1(FOXN1):c.1106T>C (p.Ile369Thr)
|
rs867638414
|
0.00001
|
NM_001370259.2(MEN1):c.1567G>A (p.Ala523Thr)
|
rs760683615
|
0.00001
|
NM_001370259.2(MEN1):c.655-5C>G
|
rs752563214
|
0.00001
|
NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)
|
rs397514419
|
0.00001
|
NM_001370658.1(BTD):c.197T>G (p.Met66Arg)
|
rs587783002
|
0.00001
|
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser)
|
rs397514353
|
0.00001
|
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)
|
rs397514370
|
0.00001
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
NM_001371986.1(UNC80):c.2281G>A (p.Gly761Arg)
|
rs930093689
|
0.00001
|
NM_001374623.1(PNPLA1):c.496C>T (p.Arg166Cys)
|
rs372072356
|
0.00001
|
NM_001376.5(DYNC1H1):c.10241A>G (p.Asn3414Ser)
|
rs1555411393
|
0.00001
|
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp)
|
rs745569868
|
0.00001
|
NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys)
|
rs774162709
|
0.00001
|
NM_001378120.1(MBD5):c.1850A>G (p.His617Arg)
|
rs1370214658
|
0.00001
|
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val)
|
rs749163361
|
0.00001
|
NM_001378454.1(ALMS1):c.10078+2dup
|
rs755740074
|
0.00001
|
NM_001378454.1(ALMS1):c.10526A>G (p.His3509Arg)
|
rs1674949532
|
0.00001
|
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn)
|
rs767078704
|
0.00001
|
NM_001378454.1(ALMS1):c.12256C>T (p.Arg4086Trp)
|
rs779618627
|
0.00001
|
NM_001378454.1(ALMS1):c.12463-14C>G
|
rs766656843
|
0.00001
|
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly)
|
rs143478466
|
0.00001
|
NM_001378454.1(ALMS1):c.1927G>A (p.Glu643Lys)
|
rs769734500
|
0.00001
|
NM_001378454.1(ALMS1):c.2136C>T (p.Leu712=)
|
rs747504060
|
0.00001
|
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala)
|
rs772260271
|
0.00001
|
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe)
|
rs574757598
|
0.00001
|
NM_001378454.1(ALMS1):c.3268C>G (p.Pro1090Ala)
|
rs376232524
|
0.00001
|
NM_001378454.1(ALMS1):c.3407C>T (p.Thr1136Ile)
|
rs756805885
|
0.00001
|
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg)
|
rs368955191
|
0.00001
|
NM_001378454.1(ALMS1):c.4454T>C (p.Ile1485Thr)
|
rs564400636
|
0.00001
|
NM_001378454.1(ALMS1):c.4765C>A (p.His1589Asn)
|
rs771703863
|
0.00001
|
NM_001378454.1(ALMS1):c.4789G>A (p.Val1597Ile)
|
rs759914299
|
0.00001
|
NM_001378454.1(ALMS1):c.5575A>G (p.Ile1859Val)
|
rs1558650343
|
0.00001
|
NM_001378454.1(ALMS1):c.7067C>T (p.Ser2356Leu)
|
rs757852651
|
0.00001
|
NM_001378454.1(ALMS1):c.901A>C (p.Ile301Leu)
|
rs534913971
|
0.00001
|
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe)
|
rs144588413
|
0.00001
|
NM_001378454.1(ALMS1):c.9545C>T (p.Pro3182Leu)
|
rs1475730829
|
0.00001
|
NM_001378454.1(ALMS1):c.9553A>T (p.Met3185Leu)
|
rs1421714540
|
0.00001
|
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe)
|
rs771768835
|
0.00001
|
NM_001378615.1(CC2D2A):c.3452T>C (p.Val1151Ala)
|
rs863225170
|
0.00001
|
NM_001378615.1(CC2D2A):c.3851G>A (p.Arg1284His)
|
rs754586025
|
0.00001
|
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)
|
rs763486732
|
0.00001
|
NM_001378615.1(CC2D2A):c.4550C>G (p.Thr1517Ser)
|
rs780673487
|
0.00001
|
NM_001378778.1(MPDZ):c.4145C>T (p.Pro1382Leu)
|
rs145892665
|
0.00001
|
NM_001379270.1(CNGA1):c.818G>A (p.Arg273Gln)
|
rs371238926
|
0.00001
|
NM_001379286.1(ZNF423):c.2621C>T (p.Pro874Leu)
|
rs959264947
|
0.00001
|
NM_001379451.1(BCORL1):c.3768G>C (p.Glu1256Asp)
|
rs1447366476
|
0.00001
|
NM_001379610.1(SPINK1):c.194+6T>C
|
rs761201715
|
0.00001
|
NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys)
|
rs515726208
|
0.00001
|
NM_001379610.1(SPINK1):c.38C>T (p.Ala13Val)
|
rs770387107
|
0.00001
|
NM_001379610.1(SPINK1):c.82A>G (p.Arg28Gly)
|
rs375368064
|
0.00001
|
NM_001384140.1(PCDH15):c.3374-7C>T
|
rs377480411
|
0.00001
|
NM_001384474.1(LOXHD1):c.3808T>C (p.Cys1270Arg)
|
rs140776419
|
0.00001
|
NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu)
|
rs1442825433
|
0.00001
|
NM_001384732.1(CPLANE1):c.7588+7A>G
|
rs773662834
|
0.00001
|
NM_001384732.1(CPLANE1):c.9310+6A>T
|
rs1347208910
|
0.00001
|
NM_001385012.1(NBEA):c.5366+4G>A
|
rs745512250
|
0.00001
|
NM_001386140.1(MTTP):c.1691T>C (p.Ile564Thr)
|
rs745447480
|
0.00001
|
NM_001386140.1(MTTP):c.74G>A (p.Gly25Asp)
|
rs762413666
|
0.00001
|
NM_001386298.1(CIC):c.6340C>T (p.Arg2114Trp)
|
rs540906276
|
0.00001
|
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala)
|
rs137852965
|
0.00001
|
NM_001386795.1(DTNA):c.1753G>A (p.Ala585Thr)
|
rs767501382
|
0.00001
|
NM_001386795.1(DTNA):c.68-5A>G
|
rs1243110074
|
0.00001
|
NM_001394372.1(BICRA):c.515C>T (p.Pro172Leu)
|
rs1599846930
|
0.00001
|
NM_001458.5(FLNC):c.5251C>T (p.Arg1751Cys)
|
rs1585165163
|
0.00001
|
NM_001482.3(GATM):c.616C>T (p.Arg206Cys)
|
rs769023072
|
0.00001
|
NM_001493.3(GDI1):c.720-16G>A
|
rs1047041485
|
0.00001
|
NM_001605.3(AARS1):c.1537A>C (p.Lys513Gln)
|
rs1960156160
|
0.00001
|
NM_001605.3(AARS1):c.1726A>C (p.Ile576Leu)
|
rs755027471
|
0.00001
|
NM_001605.3(AARS1):c.1805T>C (p.Met602Thr)
|
rs1319699374
|
0.00001
|
NM_001613.4(ACTA2):c.107T>C (p.Ile36Thr)
|
rs772919504
|
0.00001
|
NM_001673.5(ASNS):c.437T>C (p.Phe146Ser)
|
rs1476175517
|
0.00001
|
NM_001673.5(ASNS):c.758T>G (p.Ile253Ser)
|
rs761044095
|
0.00001
|
NM_001768.7(CD8A):c.52G>T (p.Ala18Ser)
|
rs1401592907
|
0.00001
|
NM_001830.4(CLCN4):c.2084G>A (p.Arg695His)
|
rs760081067
|
0.00001
|
NM_001830.4(CLCN4):c.448A>C (p.Ile150Leu)
|
rs1281964124
|
0.00001
|
NM_001845.6(COL4A1):c.1990+7T>C
|
rs773725275
|
0.00001
|
NM_001848.3(COL6A1):c.2188G>A (p.Gly730Arg)
|
rs1297620940
|
0.00001
|
NM_001848.3(COL6A1):c.3012C>G (p.Phe1004Leu)
|
rs1171160953
|
0.00001
|
NM_001849.4(COL6A2):c.2434G>A (p.Val812Met)
|
rs746393019
|
0.00001
|
NM_001852.4(COL9A2):c.1972G>A (p.Val658Met)
|
rs773159349
|
0.00001
|
NM_001853.4(COL9A3):c.1054-12C>T
|
rs1462378174
|
0.00001
|
NM_001853.4(COL9A3):c.1750G>A (p.Gly584Ser)
|
rs780489761
|
0.00001
|
NM_001854.4(COL11A1):c.4609-8C>A
|
rs777390779
|
0.00001
|
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val)
|
rs766125631
|
0.00001
|
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn)
|
rs763407972
|
0.00001
|
NM_001918.5(DBT):c.1217G>T (p.Gly406Val)
|
rs767154711
|
0.00001
|
NM_001918.5(DBT):c.902G>A (p.Arg301His)
|
rs770981889
|
0.00001
|
NM_001927.4(DES):c.-9G>A
|
rs1359188472
|
0.00001
|
NM_001931.5(DLAT):c.1345T>C (p.Ser449Pro)
|
rs1555181432
|
0.00001
|
NM_001943.5(DSG2):c.1466T>C (p.Val489Ala)
|
rs748619993
|
0.00001
|
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu)
|
rs374875442
|
0.00001
|
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)
|
rs121913042
|
0.00001
|
NM_001963.6(EGF):c.2687T>C (p.Val896Ala)
|
rs778040733
|
0.00001
|
NM_001985.3(ETFB):c.645dup (p.Val216fs)
|
rs1428088327
|
0.00001
|
NM_001999.4(FBN2):c.8302A>C (p.Asn2768His)
|
rs1262933234
|
0.00001
|
NM_002025.4(AFF2):c.1702G>A (p.Val568Ile)
|
rs1369501597
|
0.00001
|
NM_002047.4(GARS1):c.101G>A (p.Arg34Gln)
|
rs1189675611
|
0.00001
|
NM_002087.4(GRN):c.473G>A (p.Cys158Tyr)
|
rs63750163
|
0.00001
|
NM_002087.4(GRN):c.620T>C (p.Met207Thr)
|
rs776198499
|
0.00001
|
NM_002109.6(HARS1):c.1311+4T>C
|
rs958234389
|
0.00001
|
NM_002109.6(HARS1):c.202C>T (p.Arg68Trp)
|
rs757279674
|
0.00001
|
NM_002109.6(HARS1):c.506G>A (p.Arg169Gln)
|
rs146922029
|
0.00001
|
NM_002150.3(HPD):c.479A>G (p.Tyr160Cys)
|
rs137852865
|
0.00001
|
NM_002160.4(TNC):c.5743A>G (p.Thr1915Ala)
|
rs1180536647
|
0.00001
|
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg)
|
rs398123680
|
0.00001
|
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr)
|
rs763422682
|
0.00001
|
NM_002230.4(JUP):c.100G>A (p.Val34Met)
|
rs794729029
|
0.00001
|
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp)
|
rs782205755
|
0.00001
|
NM_002230.4(JUP):c.1774-8C>T
|
rs781837434
|
0.00001
|
NM_002230.4(JUP):c.209-8G>A
|
rs1165044090
|
0.00001
|
NM_002230.4(JUP):c.950A>T (p.Gln317Leu)
|
rs782509792
|
0.00001
|
NM_002234.4(KCNA5):c.1574G>A (p.Arg525Gln)
|
rs1274977803
|
0.00001
|
NM_002299.4(LCT):c.677T>C (p.Ile226Thr)
|
rs747805112
|
0.00001
|
NM_002335.4(LRP5):c.98C>T (p.Pro33Leu)
|
rs753259758
|
0.00001
|
NM_002354.3(EPCAM):c.11C>T (p.Pro4Leu)
|
rs778641299
|
0.00001
|
NM_002471.4(MYH6):c.1903A>G (p.Lys635Glu)
|
rs1566512077
|
0.00001
|
NM_002471.4(MYH6):c.2169-8C>T
|
rs1006825673
|
0.00001
|
NM_002471.4(MYH6):c.2292+1G>A
|
rs771569935
|
0.00001
|
NM_002471.4(MYH6):c.3733-19C>T
|
rs753409868
|
0.00001
|
NM_002471.4(MYH6):c.3859+7G>A
|
rs748958937
|
0.00001
|
NM_002471.4(MYH6):c.4307G>A (p.Arg1436His)
|
rs142556730
|
0.00001
|
NM_002471.4(MYH6):c.4798C>A (p.Gln1600Lys)
|
rs770068575
|
0.00001
|
NM_002471.4(MYH6):c.5653G>A (p.Glu1885Lys)
|
rs760353963
|
0.00001
|
NM_002471.4(MYH6):c.5767C>T (p.Arg1923Ter)
|
rs765861895
|
0.00001
|
NM_002471.4(MYH6):c.643-3T>C
|
rs113552091
|
0.00001
|
NM_002471.4(MYH6):c.71T>C (p.Leu24Pro)
|
rs1320990570
|
0.00001
|
NM_002473.6(MYH9):c.1409A>G (p.Asn470Ser)
|
rs751720764
|
0.00001
|
NM_002473.6(MYH9):c.2405G>A (p.Arg802Gln)
|
rs765414397
|
0.00001
|
NM_002473.6(MYH9):c.5766-5C>T
|
rs746967490
|
0.00001
|
NM_002474.3(MYH11):c.1576-4A>G
|
rs189193825
|
0.00001
|
NM_002474.3(MYH11):c.1864+8C>T
|
rs1297078684
|
0.00001
|
NM_002474.3(MYH11):c.2098C>T (p.Arg700Trp)
|
rs886038932
|
0.00001
|
NM_002474.3(MYH11):c.2426G>A (p.Arg809Lys)
|
rs534802983
|
0.00001
|
NM_002474.3(MYH11):c.2446A>C (p.Met816Leu)
|
rs1243566183
|
0.00001
|
NM_002474.3(MYH11):c.2476T>C (p.Tyr826His)
|
rs1436181127
|
0.00001
|
NM_002474.3(MYH11):c.3124C>T (p.Arg1042Trp)
|
rs774490005
|
0.00001
|
NM_002474.3(MYH11):c.3152A>G (p.Gln1051Arg)
|
rs1555557294
|
0.00001
|
NM_002474.3(MYH11):c.3233T>C (p.Ile1078Thr)
|
rs193922629
|
0.00001
|
NM_002474.3(MYH11):c.4200G>T (p.Glu1400Asp)
|
rs754997732
|
0.00001
|
NM_002474.3(MYH11):c.4543G>A (p.Asp1515Asn)
|
rs200909802
|
0.00001
|
NM_002474.3(MYH11):c.5089G>A (p.Ala1697Thr)
|
rs538145374
|
0.00001
|
NM_002474.3(MYH11):c.5095G>A (p.Ala1699Thr)
|
rs200410021
|
0.00001
|
NM_002474.3(MYH11):c.5299G>A (p.Glu1767Lys)
|
rs377663370
|
0.00001
|
NM_002474.3(MYH11):c.5302C>G (p.Gln1768Glu)
|
rs901502893
|
0.00001
|
NM_002474.3(MYH11):c.5485C>G (p.Gln1829Glu)
|
rs1005977032
|
0.00001
|
NM_002474.3(MYH11):c.62T>C (p.Ile21Thr)
|
rs777372840
|
0.00001
|
NM_002485.5(NBN):c.-7C>A
|
rs1210776869
|
0.00001
|
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg)
|
rs756023239
|
0.00001
|
NM_002485.5(NBN):c.1066G>A (p.Ala356Thr)
|
rs777259845
|
0.00001
|
NM_002485.5(NBN):c.1177T>C (p.Phe393Leu)
|
rs941732827
|
0.00001
|
NM_002485.5(NBN):c.1193A>G (p.Gln398Arg)
|
rs746965070
|
0.00001
|
NM_002485.5(NBN):c.1247T>C (p.Met416Thr)
|
rs863224713
|
0.00001
|
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr)
|
rs587780774
|
0.00001
|
NM_002485.5(NBN):c.1628A>G (p.Glu543Gly)
|
rs587781624
|
0.00001
|
NM_002485.5(NBN):c.1659G>A (p.Met553Ile)
|
rs876659960
|
0.00001
|
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly)
|
rs763926389
|
0.00001
|
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser)
|
rs876658681
|
0.00001
|
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro)
|
rs746632073
|
0.00001
|
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)
|
rs199657566
|
0.00001
|
NM_002485.5(NBN):c.2073C>T (p.Val691=)
|
rs876658178
|
0.00001
|
NM_002485.5(NBN):c.2132A>T (p.His711Leu)
|
rs1810035825
|
0.00001
|
NM_002485.5(NBN):c.2134C>T (p.His712Tyr)
|
rs781520763
|
0.00001
|
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser)
|
rs587780093
|
0.00001
|
NM_002485.5(NBN):c.321-3C>T
|
rs751356470
|
0.00001
|
NM_002485.5(NBN):c.37+7G>A
|
rs372850559
|
0.00001
|
NM_002485.5(NBN):c.448C>T (p.Leu150Phe)
|
rs773119929
|
0.00001
|
NM_002485.5(NBN):c.468A>C (p.Lys156Asn)
|
rs730881858
|
0.00001
|
NM_002485.5(NBN):c.584+9T>C
|
rs746913991
|
0.00001
|
NM_002485.5(NBN):c.596C>G (p.Pro199Arg)
|
rs730881844
|
0.00001
|
NM_002485.5(NBN):c.644G>A (p.Arg215Gln)
|
rs61753718
|
0.00001
|
NM_002485.5(NBN):c.772G>C (p.Glu258Gln)
|
rs922057169
|
0.00001
|
NM_002485.5(NBN):c.938C>T (p.Ala313Val)
|
rs730881862
|
0.00001
|
NM_002524.5(NRAS):c.290+15A>G
|
rs373417606
|
0.00001
|
NM_002529.4(NTRK1):c.647A>G (p.Gln216Arg)
|
rs1471711796
|
0.00001
|
NM_002547.3(OPHN1):c.1270T>G (p.Phe424Val)
|
rs942810312
|
0.00001
|
NM_002615.7(SERPINF1):c.316C>T (p.Arg106Trp)
|
rs781059865
|
0.00001
|
NM_002691.4(POLD1):c.1291A>G (p.Ile431Val)
|
rs752444746
|
0.00001
|
NM_002691.4(POLD1):c.202+3A>G
|
rs375365167
|
0.00001
|
NM_002691.4(POLD1):c.394G>A (p.Asp132Asn)
|
rs781132734
|
0.00001
|
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)
|
rs764287987
|
0.00001
|
NM_002693.3(POLG):c.1736G>A (p.Arg579Gln)
|
rs746406535
|
0.00001
|
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln)
|
rs1001570418
|
0.00001
|
NM_002693.3(POLG):c.2221G>A (p.Asp741Asn)
|
rs751736420
|
0.00001
|
NM_002693.3(POLG):c.2620T>A (p.Leu874Met)
|
rs758402960
|
0.00001
|
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu)
|
rs1057523186
|
0.00001
|
NM_002693.3(POLG):c.3346A>G (p.Met1116Val)
|
rs201144044
|
0.00001
|
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn)
|
rs149921636
|
0.00001
|
NM_002734.5(PRKAR1A):c.25A>C (p.Ser9Arg)
|
rs778468626
|
0.00001
|
NM_002734.5(PRKAR1A):c.27T>G (p.Ser9Arg)
|
rs745391692
|
0.00001
|
NM_002734.5(PRKAR1A):c.51A>T (p.Glu17Asp)
|
rs771518581
|
0.00001
|
NM_002734.5(PRKAR1A):c.545C>T (p.Thr182Met)
|
rs199801675
|
0.00001
|
NM_002734.5(PRKAR1A):c.790C>T (p.Arg264Cys)
|
rs2085877268
|
0.00001
|
NM_002734.5(PRKAR1A):c.891+6G>T
|
rs1222751049
|
0.00001
|
NM_002734.5(PRKAR1A):c.974-6C>A
|
rs745570426
|
0.00001
|
NM_002755.4(MAP2K1):c.439-14A>G
|
rs754725417
|
0.00001
|
NM_002755.4(MAP2K1):c.871A>G (p.Arg291Gly)
|
rs747807884
|
0.00001
|
NM_002755.4(MAP2K1):c.896-7T>C
|
rs772786705
|
0.00001
|
NM_002755.4(MAP2K1):c.939G>C (p.Leu313Phe)
|
rs1361965478
|
0.00001
|
NM_002769.5(PRSS1):c.-2C>A
|
rs766465080
|
0.00001
|
NM_002769.5(PRSS1):c.163G>C (p.Glu55Gln)
|
rs1365488828
|
0.00001
|
NM_002769.5(PRSS1):c.454+7G>A
|
rs755175379
|
0.00001
|
NM_002769.5(PRSS1):c.497T>C (p.Leu166Pro)
|
rs776120935
|
0.00001
|
NM_002769.5(PRSS1):c.589C>T (p.Gln197Ter)
|
rs757054367
|
0.00001
|
NM_002778.4(PSAP):c.1350+4C>T
|
rs769353440
|
0.00001
|
NM_002834.5(PTPN11):c.15-19C>A
|
rs779587904
|
0.00001
|
NM_002834.5(PTPN11):c.1600-11C>G
|
rs1472156150
|
0.00001
|
NM_002834.5(PTPN11):c.1697C>T (p.Thr566Met)
|
rs150730493
|
0.00001
|
NM_002834.5(PTPN11):c.642+19T>C
|
rs772465708
|
0.00001
|
NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg)
|
rs777603059
|
0.00001
|
NM_002838.5(PTPRC):c.3G>T (p.Met1Ile)
|
rs759182888
|
0.00001
|
NM_002878.4(RAD51D):c.263+1503C>T
|
rs753486358
|
0.00001
|
NM_002878.4(RAD51D):c.292T>A (p.Tyr98Asn)
|
rs730881946
|
0.00001
|
NM_002878.4(RAD51D):c.296C>T (p.Thr99Ile)
|
rs1339099286
|
0.00001
|
NM_002878.4(RAD51D):c.346G>A (p.Val116Ile)
|
rs753009349
|
0.00001
|
NM_002878.4(RAD51D):c.34C>G (p.Leu12Val)
|
rs773065220
|
0.00001
|
NM_002878.4(RAD51D):c.356G>A (p.Cys119Tyr)
|
rs759730492
|
0.00001
|
NM_002878.4(RAD51D):c.419G>A (p.Gly140Glu)
|
rs730881945
|
0.00001
|
NM_002878.4(RAD51D):c.481-5T>G
|
rs374382703
|
0.00001
|
NM_002878.4(RAD51D):c.80C>A (p.Thr27Lys)
|
rs139642328
|
0.00001
|
NM_002878.4(RAD51D):c.865G>A (p.Gly289Ser)
|
rs587782129
|
0.00001
|
NM_002878.4(RAD51D):c.871C>T (p.Arg291Cys)
|
rs372038369
|
0.00001
|
NM_002878.4(RAD51D):c.910G>T (p.Gly304Cys)
|
rs759392029
|
0.00001
|
NM_002878.4(RAD51D):c.955C>T (p.Gln319Ter)
|
rs794726988
|
0.00001
|
NM_002880.4(RAF1):c.-4A>C
|
rs368465923
|
0.00001
|
NM_002880.4(RAF1):c.1247A>G (p.Asn416Ser)
|
rs774198365
|
0.00001
|
NM_002880.4(RAF1):c.1741A>G (p.Met581Val)
|
rs752063874
|
0.00001
|
NM_002880.4(RAF1):c.1895_1918del (p.Glu632_Thr640delinsAla)
|
rs2058255431
|
0.00001
|
NM_002880.4(RAF1):c.1910G>A (p.Cys637Tyr)
|
rs769639669
|
0.00001
|
NM_002880.4(RAF1):c.1928C>T (p.Pro643Leu)
|
rs1382398408
|
0.00001
|
NM_002880.4(RAF1):c.424-6T>C
|
rs983999914
|
0.00001
|
NM_002880.4(RAF1):c.845G>A (p.Arg282Gln)
|
rs752713997
|
0.00001
|
NM_002972.4(SBF1):c.2828C>T (p.Thr943Met)
|
rs987368963
|
0.00001
|
NM_003000.3(SDHB):c.482A>G (p.Asp161Gly)
|
rs1049317868
|
0.00001
|
NM_003000.3(SDHB):c.49A>G (p.Thr17Ala)
|
rs1060503756
|
0.00001
|
NM_003000.3(SDHB):c.679A>G (p.Thr227Ala)
|
rs1191046308
|
0.00001
|
NM_003036.4(SKI):c.1767+7G>A
|
rs199962561
|
0.00001
|
NM_003036.4(SKI):c.2140C>T (p.Arg714Cys)
|
rs1361712039
|
0.00001
|
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)
|
rs746187344
|
0.00001
|
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys)
|
rs762126547
|
0.00001
|
NM_003060.4(SLC22A5):c.694A>G (p.Thr232Ala)
|
rs188698686
|
0.00001
|
NM_003060.4(SLC22A5):c.932C>G (p.Thr311Ser)
|
rs770408585
|
0.00001
|
NM_003060.4(SLC22A5):c.949G>A (p.Glu317Lys)
|
rs774792831
|
0.00001
|
NM_003070.5(SMARCA2):c.4231C>T (p.Gln1411Ter)
|
rs752254761
|
0.00001
|
NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn)
|
rs769322487
|
0.00001
|
NM_003098.3(SNTA1):c.1339C>T (p.Arg447Ter)
|
rs1187536758
|
0.00001
|
NM_003098.3(SNTA1):c.1425+1G>A
|
rs113809208
|
0.00001
|
NM_003098.3(SNTA1):c.1425C>T (p.Ile475=)
|
rs775932782
|
0.00001
|
NM_003098.3(SNTA1):c.467A>G (p.Lys156Arg)
|
rs772004957
|
0.00001
|
NM_003098.3(SNTA1):c.759T>A (p.Asp253Glu)
|
rs759487225
|
0.00001
|
NM_003119.4(SPG7):c.1235C>T (p.Ala412Val)
|
rs746668495
|
0.00001
|
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln)
|
rs756535079
|
0.00001
|
NM_003221.4(TFAP2B):c.861G>C (p.Arg287Ser)
|
rs777687254
|
0.00001
|
NM_003239.5(TGFB3):c.11A>G (p.His4Arg)
|
rs371772819
|
0.00001
|
NM_003242.6(TGFBR2):c.1525-6C>G
|
rs748388518
|
0.00001
|
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu)
|
rs755070814
|
0.00001
|
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg)
|
rs759362407
|
0.00001
|
NM_003280.3(TNNC1):c.442A>G (p.Ile148Val)
|
rs397516848
|
0.00001
|
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)
|
rs373519519
|
0.00001
|
NM_003383.5(VLDLR):c.1115A>G (p.Lys372Arg)
|
rs759045327
|
0.00001
|
NM_003392.7(WNT5A):c.289G>A (p.Ala97Thr)
|
rs763870268
|
0.00001
|
NM_003392.7(WNT5A):c.530G>C (p.Trp177Ser)
|
rs1231823028
|
0.00001
|
NM_003476.5(CSRP3):c.255C>T (p.Gly85=)
|
rs752338221
|
0.00001
|
NM_003477.3(PDHX):c.44G>A (p.Arg15His)
|
rs387906998
|
0.00001
|
NM_003482.4(KMT2D):c.12605A>C (p.Gln4202Pro)
|
rs1276517318
|
0.00001
|
NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro)
|
rs1403125636
|
0.00001
|
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln)
|
rs587784332
|
0.00001
|
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val)
|
rs201657455
|
0.00001
|
NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser)
|
rs754204295
|
0.00001
|
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln)
|
rs312262864
|
0.00001
|
NM_003640.5(ELP1):c.3784A>G (p.Thr1262Ala)
|
rs200634033
|
0.00001
|
NM_003719.5(PDE8B):c.125G>C (p.Gly42Ala)
|
rs886060754
|
0.00001
|
NM_003745.2(SOCS1):c.424G>C (p.Glu142Gln)
|
rs765480579
|
0.00001
|
NM_003793.4(CTSF):c.1358G>A (p.Trp453Ter)
|
rs1188816866
|
0.00001
|
NM_003793.4(CTSF):c.1370G>A (p.Trp457Ter)
|
rs888414145
|
0.00001
|
NM_003793.4(CTSF):c.752C>T (p.Thr251Ile)
|
rs775268694
|
0.00001
|
NM_003801.4(GPAA1):c.1164+1A>G
|
rs782802396
|
0.00001
|
NM_003850.3(SUCLA2):c.1147C>T (p.Arg383Cys)
|
rs781744671
|
0.00001
|
NM_003865.3(HESX1):c.244G>C (p.Glu82Gln)
|
rs980166573
|
0.00001
|
NM_004004.6(GJB2):c.-22-7T>C
|
rs372197957
|
0.00001
|
NM_004004.6(GJB2):c.126G>T (p.Glu42Asp)
|
rs535635403
|
0.00001
|
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
|
rs727504309
|
0.00001
|
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)
|
rs104894403
|
0.00001
|
NM_004004.6(GJB2):c.331A>G (p.Ile111Val)
|
rs1003660637
|
0.00001
|
NM_004004.6(GJB2):c.584T>C (p.Met195Thr)
|
rs1378679640
|
0.00001
|
NM_004006.3(DMD):c.1000T>A (p.Leu334Met)
|
rs1280415176
|
0.00001
|
NM_004006.3(DMD):c.10262C>T (p.Ala3421Val)
|
rs104894791
|
0.00001
|
NM_004006.3(DMD):c.2905G>A (p.Val969Ile)
|
rs750582245
|
0.00001
|
NM_004006.3(DMD):c.3982C>G (p.Gln1328Glu)
|
rs745640786
|
0.00001
|
NM_004006.3(DMD):c.5739+8T>C
|
rs1321625981
|
0.00001
|
NM_004006.3(DMD):c.5986G>A (p.Val1996Met)
|
rs2097556758
|
0.00001
|
NM_004006.3(DMD):c.6151C>T (p.Arg2051Trp)
|
rs140791274
|
0.00001
|
NM_004006.3(DMD):c.6152G>A (p.Arg2051Gln)
|
rs756696562
|
0.00001
|
NM_004006.3(DMD):c.7873-6C>A
|
rs764629897
|
0.00001
|
NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu)
|
rs151087470
|
0.00001
|
NM_004035.7(ACOX1):c.551C>T (p.Ser184Leu)
|
rs780887410
|
0.00001
|
NM_004035.7(ACOX1):c.679G>A (p.Gly227Ser)
|
rs1002618350
|
0.00001
|
NM_004082.5(DCTN1):c.1217G>A (p.Arg406Lys)
|
rs1040712616
|
0.00001
|
NM_004082.5(DCTN1):c.1784G>A (p.Ser595Asn)
|
rs1243051229
|
0.00001
|
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu)
|
rs1168354526
|
0.00001
|
NM_004100.5(EYA4):c.438-15T>C
|
rs752763979
|
0.00001
|
NM_004168.4(SDHA):c.629G>A (p.Arg210Gln)
|
rs762108779
|
0.00001
|
NM_004171.4(SLC1A2):c.1422-6C>G
|
rs1453510369
|
0.00001
|
NM_004208.4(AIFM1):c.1631C>T (p.Pro544Leu)
|
rs1569415383
|
0.00001
|
NM_004281.4(BAG3):c.1202C>G (p.Ala401Gly)
|
rs775153939
|
0.00001
|
NM_004281.4(BAG3):c.362G>A (p.Arg121Gln)
|
rs876657746
|
0.00001
|
NM_004304.5(ALK):c.3358C>T (p.Arg1120Trp)
|
rs774951734
|
0.00001
|
NM_004304.5(ALK):c.3421G>A (p.Asp1141Asn)
|
rs748493584
|
0.00001
|
NM_004320.6(ATP2A1):c.1442A>T (p.Lys481Met)
|
rs1288758939
|
0.00001
|
NM_004320.6(ATP2A1):c.2932A>G (p.Ile978Val)
|
rs768415562
|
0.00001
|
NM_004329.3(BMPR1A):c.-6T>C
|
rs1047677696
|
0.00001
|
NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=)
|
rs1060503407
|
0.00001
|
NM_004329.3(BMPR1A):c.1153G>A (p.Val385Ile)
|
rs1060503396
|
0.00001
|
NM_004329.3(BMPR1A):c.1444A>G (p.Ile482Val)
|
rs974639091
|
0.00001
|
NM_004329.3(BMPR1A):c.562C>T (p.Arg188Cys)
|
rs879254272
|
0.00001
|
NM_004329.3(BMPR1A):c.572G>A (p.Arg191His)
|
rs746231785
|
0.00001
|
NM_004329.3(BMPR1A):c.688A>G (p.Ile230Val)
|
rs730881433
|
0.00001
|
NM_004329.3(BMPR1A):c.869-4A>C
|
rs964020576
|
0.00001
|
NM_004329.3(BMPR1A):c.97A>G (p.Thr33Ala)
|
rs748515167
|
0.00001
|
NM_004333.6(BRAF):c.1166G>A (p.Arg389His)
|
rs577372072
|
0.00001
|
NM_004333.6(BRAF):c.1178-10A>G
|
rs527835644
|
0.00001
|
NM_004333.6(BRAF):c.1369A>T (p.Ile457Phe)
|
rs1008100536
|
0.00001
|
NM_004333.6(BRAF):c.1673G>A (p.Arg558Gln)
|
rs1278812236
|
0.00001
|
NM_004333.6(BRAF):c.1690A>G (p.Met564Val)
|
rs745783052
|
0.00001
|
NM_004333.6(BRAF):c.2029G>A (p.Asp677Asn)
|
rs886041260
|
0.00001
|
NM_004333.6(BRAF):c.612G>C (p.Glu204Asp)
|
rs1202874043
|
0.00001
|
NM_004333.6(BRAF):c.82G>A (p.Gly28Ser)
|
rs1437317949
|
0.00001
|
NM_004341.5(CAD):c.1579G>A (p.Glu527Lys)
|
rs141698954
|
0.00001
|
NM_004341.5(CAD):c.2171G>A (p.Gly724Glu)
|
rs777961046
|
0.00001
|
NM_004341.5(CAD):c.2335G>T (p.Ala779Ser)
|
rs369354492
|
0.00001
|
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln)
|
rs763410987
|
0.00001
|
NM_004341.5(CAD):c.6671G>A (p.Arg2224His)
|
rs138694992
|
0.00001
|
NM_004360.5(CDH1):c.-8G>A
|
rs879449703
|
0.00001
|
NM_004360.5(CDH1):c.1070C>A (p.Thr357Lys)
|
rs1260033180
|
0.00001
|
NM_004360.5(CDH1):c.1149G>C (p.Gln383His)
|
rs786202510
|
0.00001
|
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys)
|
rs372838203
|
0.00001
|
NM_004360.5(CDH1):c.1214A>G (p.Asn405Ser)
|
rs587778175
|
0.00001
|
NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser)
|
rs773441320
|
0.00001
|
NM_004360.5(CDH1):c.1348T>A (p.Tyr450Asn)
|
rs750741214
|
0.00001
|
NM_004360.5(CDH1):c.1351A>C (p.Ile451Leu)
|
rs377416092
|
0.00001
|
NM_004360.5(CDH1):c.1478T>C (p.Val493Ala)
|
rs786202407
|
0.00001
|
NM_004360.5(CDH1):c.1566-7C>T
|
rs747783435
|
0.00001
|
NM_004360.5(CDH1):c.1843A>G (p.Ile615Val)
|
rs1003012321
|
0.00001
|
NM_004360.5(CDH1):c.185G>T (p.Gly62Val)
|
rs786203727
|
0.00001
|
NM_004360.5(CDH1):c.203A>G (p.Tyr68Cys)
|
rs1284989530
|
0.00001
|
NM_004360.5(CDH1):c.2053G>A (p.Val685Met)
|
rs550612843
|
0.00001
|
NM_004360.5(CDH1):c.2164+3A>G
|
rs750651204
|
0.00001
|
NM_004360.5(CDH1):c.2201G>C (p.Arg734Thr)
|
rs587781859
|
0.00001
|
NM_004360.5(CDH1):c.2264A>G (p.Tyr755Cys)
|
rs187289510
|
0.00001
|
NM_004360.5(CDH1):c.2335C>T (p.Arg779Trp)
|
rs876660183
|
0.00001
|
NM_004360.5(CDH1):c.2369C>T (p.Thr790Ile)
|
rs587780120
|
0.00001
|
NM_004360.5(CDH1):c.254T>C (p.Val85Ala)
|
rs878854688
|
0.00001
|
NM_004360.5(CDH1):c.2603G>A (p.Arg868His)
|
rs369126891
|
0.00001
|
NM_004360.5(CDH1):c.49-8C>A
|
rs774761552
|
0.00001
|
NM_004360.5(CDH1):c.595A>T (p.Thr199Ser)
|
rs876658424
|
0.00001
|
NM_004360.5(CDH1):c.665G>A (p.Arg222Lys)
|
rs1555515287
|
0.00001
|
NM_004369.4(COL6A3):c.7031G>A (p.Gly2344Glu)
|
rs367725413
|
0.00001
|
NM_004393.6(DAG1):c.229T>C (p.Ser77Pro)
|
rs2050743041
|
0.00001
|
NM_004407.4(DMP1):c.709A>G (p.Met237Val)
|
rs201413886
|
0.00001
|
NM_004408.4(DNM1):c.1891G>C (p.Gly631Arg)
|
rs1333859821
|
0.00001
|
NM_004415.4(DSP):c.1012C>T (p.Leu338Phe)
|
rs774852168
|
0.00001
|
NM_004415.4(DSP):c.117G>T (p.Arg39Ser)
|
rs748578019
|
0.00001
|
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys)
|
rs781084693
|
0.00001
|
NM_004415.4(DSP):c.1575-16C>G
|
rs756806835
|
0.00001
|
NM_004415.4(DSP):c.170+16G>A
|
rs1475829163
|
0.00001
|
NM_004415.4(DSP):c.2372T>C (p.Leu791Pro)
|
rs1406788095
|
0.00001
|
NM_004415.4(DSP):c.2515C>T (p.His839Tyr)
|
rs1561693806
|
0.00001
|
NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser)
|
rs1218975129
|
0.00001
|
NM_004415.4(DSP):c.308G>A (p.Arg103Gln)
|
rs775015862
|
0.00001
|
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)
|
rs762238621
|
0.00001
|
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)
|
rs761331634
|
0.00001
|
NM_004415.4(DSP):c.385C>T (p.Arg129Trp)
|
rs777763456
|
0.00001
|
NM_004415.4(DSP):c.3905G>A (p.Arg1302His)
|
rs760691999
|
0.00001
|
NM_004415.4(DSP):c.4112A>G (p.Asn1371Ser)
|
rs369649373
|
0.00001
|
NM_004415.4(DSP):c.4118C>T (p.Thr1373Ile)
|
rs762930286
|
0.00001
|
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro)
|
rs751972271
|
0.00001
|
NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln)
|
rs397516942
|
0.00001
|
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg)
|
rs377344768
|
0.00001
|
NM_004415.4(DSP):c.5396A>G (p.Gln1799Arg)
|
rs987386495
|
0.00001
|
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu)
|
rs794728104
|
0.00001
|
NM_004415.4(DSP):c.5833C>T (p.Arg1945Cys)
|
rs1456378645
|
0.00001
|
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro)
|
rs397516950
|
0.00001
|
NM_004415.4(DSP):c.598-5C>T
|
rs765653540
|
0.00001
|
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)
|
rs557263443
|
0.00001
|
NM_004415.4(DSP):c.7583A>G (p.Tyr2528Cys)
|
rs746932951
|
0.00001
|
NM_004415.4(DSP):c.946A>G (p.Met316Val)
|
rs201672777
|
0.00001
|
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val)
|
rs776428695
|
0.00001
|
NM_004453.4(ETFDH):c.1331T>C (p.Val444Ala)
|
rs760234838
|
0.00001
|
NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg)
|
rs1156517377
|
0.00001
|
NM_004453.4(ETFDH):c.296G>A (p.Arg99His)
|
rs376630579
|
0.00001
|
NM_004463.3(FGD1):c.68C>G (p.Pro23Arg)
|
rs1358236718
|
0.00001
|
NM_004493.3(HSD17B10):c.364C>G (p.Leu122Val)
|
rs28935476
|
0.00001
|
NM_004519.4(KCNQ3):c.1800-12G>A
|
rs761923188
|
0.00001
|
NM_004519.4(KCNQ3):c.914A>G (p.Asp305Gly)
|
rs118192248
|
0.00001
|
NM_004519.4(KCNQ3):c.98C>T (p.Ala33Val)
|
rs761196042
|
0.00001
|
NM_004525.3(LRP2):c.10697C>G (p.Thr3566Ser)
|
rs756870198
|
0.00001
|
NM_004525.3(LRP2):c.1742T>C (p.Ile581Thr)
|
rs779652105
|
0.00001
|
NM_004525.3(LRP2):c.5626A>G (p.Ile1876Val)
|
rs763254934
|
0.00001
|
NM_004525.3(LRP2):c.8372G>A (p.Arg2791Lys)
|
rs139266058
|
0.00001
|
NM_004562.3(PRKN):c.205A>G (p.Ile69Val)
|
rs766391627
|
0.00001
|
NM_004612.4(TGFBR1):c.1435G>A (p.Gly479Arg)
|
rs377194685
|
0.00001
|
NM_004614.5(TK2):c.156+6T>G
|
rs758270948
|
0.00001
|
NM_004614.5(TK2):c.588A>T (p.Arg196Ser)
|
rs752949191
|
0.00001
|
NM_004628.5(XPC):c.2011C>T (p.Arg671Cys)
|
rs771891932
|
0.00001
|
NM_004628.5(XPC):c.2765A>C (p.Lys922Thr)
|
rs767346855
|
0.00001
|
NM_004646.4(NPHS1):c.1234G>A (p.Gly412Ser)
|
rs142008044
|
0.00001
|
NM_004646.4(NPHS1):c.218C>T (p.Pro73Leu)
|
rs752777463
|
0.00001
|
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys)
|
rs753476209
|
0.00001
|
NM_004655.4(AXIN2):c.1969G>A (p.Ala657Thr)
|
rs1254934681
|
0.00001
|
NM_004655.4(AXIN2):c.2141+5G>A
|
rs769868369
|
0.00001
|
NM_004655.4(AXIN2):c.2405+7G>A
|
rs373593841
|
0.00001
|
NM_004700.4(KCNQ4):c.1463G>A (p.Arg488His)
|
rs371301199
|
0.00001
|
NM_004750.5(CRLF1):c.646C>T (p.Arg216Cys)
|
rs556029569
|
0.00001
|
NM_004870.4(MPDU1):c.511del (p.Leu171fs)
|
rs756471132
|
0.00001
|
NM_004984.4(KIF5A):c.1063G>T (p.Ala355Ser)
|
rs749301835
|
0.00001
|
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val)
|
rs121434444
|
0.00001
|
NM_004985.5(KRAS):c.112-12C>T
|
rs202104024
|
0.00001
|
NM_004985.5(KRAS):c.149C>T (p.Thr50Ile)
|
rs1407509439
|
0.00001
|
NM_004985.5(KRAS):c.451-5538A>G
|
rs755967833
|
0.00001
|
NM_005045.4(RELN):c.4457A>G (p.Asn1486Ser)
|
rs202161592
|
0.00001
|
NM_005045.4(RELN):c.5630C>A (p.Ser1877Tyr)
|
rs1253194353
|
0.00001
|
NM_005045.4(RELN):c.6467G>T (p.Gly2156Val)
|
rs1830260428
|
0.00001
|
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)
|
rs368695664
|
0.00001
|
NM_005055.5(RAPSN):c.691-5C>T
|
rs1291023159
|
0.00001
|
NM_005061.3(RPL3L):c.922G>A (p.Asp308Asn)
|
rs771732216
|
0.00001
|
NM_005076.5(CNTN2):c.940C>T (p.Arg314Ter)
|
rs1422381117
|
0.00001
|
NM_005084.4(PLA2G7):c.663+1G>A
|
rs201899866
|
0.00001
|
NM_005141.5(FGB):c.656A>G (p.Gln219Arg)
|
rs778766319
|
0.00001
|
NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr)
|
rs370256882
|
0.00001
|
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)
|
rs121912676
|
0.00001
|
NM_005188.4(CBL):c.1244G>T (p.Gly415Val)
|
rs1388592245
|
0.00001
|
NM_005188.4(CBL):c.1288G>A (p.Val430Met)
|
rs991981291
|
0.00001
|
NM_005188.4(CBL):c.1298C>T (p.Pro433Leu)
|
rs140627020
|
0.00001
|
NM_005188.4(CBL):c.1637C>T (p.Pro546Leu)
|
rs751274314
|
0.00001
|
NM_005188.4(CBL):c.1925G>T (p.Ser642Ile)
|
rs571045498
|
0.00001
|
NM_005188.4(CBL):c.2155G>A (p.Ala719Thr)
|
rs757126995
|
0.00001
|
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg)
|
rs587778159
|
0.00001
|
NM_005188.4(CBL):c.2533G>A (p.Gly845Ser)
|
rs997859448
|
0.00001
|
NM_005188.4(CBL):c.469A>G (p.Ile157Val)
|
rs730880430
|
0.00001
|
NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg)
|
rs749814308
|
0.00001
|
NM_005257.6(GATA6):c.508G>A (p.Val170Met)
|
rs1343278963
|
0.00001
|
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile)
|
rs935130398
|
0.00001
|
NM_005343.4(HRAS):c.112-13T>A
|
rs766582484
|
0.00001
|
NM_005359.6(SMAD4):c.-3C>G
|
rs886053892
|
0.00001
|
NM_005359.6(SMAD4):c.1039A>G (p.Ile347Val)
|
rs747360831
|
0.00001
|
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val)
|
rs1064794204
|
0.00001
|
NM_005359.6(SMAD4):c.249+7C>T
|
rs754207663
|
0.00001
|
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser)
|
rs281875323
|
0.00001
|
NM_005359.6(SMAD4):c.457C>T (p.Pro153Ser)
|
rs751763157
|
0.00001
|
NM_005359.6(SMAD4):c.554C>T (p.Pro185Leu)
|
rs770798845
|
0.00001
|
NM_005359.6(SMAD4):c.698A>G (p.His233Arg)
|
rs1555685910
|
0.00001
|
NM_005359.6(SMAD4):c.956-4A>G
|
rs1295343500
|
0.00001
|
NM_005373.3(MPL):c.1327G>C (p.Gly443Arg)
|
rs895171793
|
0.00001
|
NM_005373.3(MPL):c.185C>T (p.Thr62Ile)
|
rs201727975
|
0.00001
|
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)
|
rs762009737
|
0.00001
|
NM_005477.3(HCN4):c.1331A>T (p.Asp444Val)
|
rs1444329166
|
0.00001
|
NM_005502.4(ABCA1):c.2375A>G (p.Glu792Gly)
|
rs762990532
|
0.00001
|
NM_005502.4(ABCA1):c.5192C>G (p.Ser1731Cys)
|
rs760507032
|
0.00001
|
NM_005502.4(ABCA1):c.5621T>G (p.Phe1874Cys)
|
rs754410874
|
0.00001
|
NM_005502.4(ABCA1):c.6181G>A (p.Gly2061Ser)
|
rs751548064
|
0.00001
|
NM_005502.4(ABCA1):c.6346A>G (p.Ile2116Val)
|
rs752356763
|
0.00001
|
NM_005502.4(ABCA1):c.689G>A (p.Arg230His)
|
rs767710036
|
0.00001
|
NM_005529.7(HSPG2):c.10777G>C (p.Val3593Leu)
|
rs1342251864
|
0.00001
|
NM_005529.7(HSPG2):c.2420C>T (p.Thr807Met)
|
rs1307282477
|
0.00001
|
NM_005559.4(LAMA1):c.7051-9T>A
|
rs1472738373
|
0.00001
|
NM_005591.4(MRE11):c.1046G>A (p.Arg349Gln)
|
rs864622683
|
0.00001
|
NM_005591.4(MRE11):c.1936G>A (p.Val646Ile)
|
rs531090481
|
0.00001
|
NM_005591.4(MRE11):c.463C>T (p.Arg155Cys)
|
rs587782512
|
0.00001
|
NM_005591.4(MRE11):c.661A>C (p.Ser221Arg)
|
rs587781272
|
0.00001
|
NM_005591.4(MRE11):c.931G>T (p.Asp311Tyr)
|
rs150138701
|
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.475G>A (p.Gly159Arg)
|
rs760654579
|
0.00001
|
NM_005629.4(SLC6A8):c.913-8T>C
|
rs1557045039
|
0.00001
|
NM_005633.4(SOS1):c.1202+3G>A
|
rs904487658
|
0.00001
|
NM_005633.4(SOS1):c.1931T>C (p.Ile644Thr)
|
rs769891933
|
0.00001
|
NM_005633.4(SOS1):c.2391-17T>C
|
rs551161418
|
0.00001
|
NM_005633.4(SOS1):c.2489A>G (p.Asn830Ser)
|
rs397517158
|
0.00001
|
NM_005633.4(SOS1):c.2511-9T>A
|
rs769427441
|
0.00001
|
NM_005633.4(SOS1):c.2990T>C (p.Met997Thr)
|
rs1321926273
|
0.00001
|
NM_005633.4(SOS1):c.2998A>T (p.Ser1000Cys)
|
rs730881031
|
0.00001
|
NM_005633.4(SOS1):c.2999G>A (p.Ser1000Asn)
|
rs891035934
|
0.00001
|
NM_005633.4(SOS1):c.3257C>T (p.Pro1086Leu)
|
rs730881028
|
0.00001
|
NM_005633.4(SOS1):c.350T>G (p.Val117Gly)
|
rs201085754
|
0.00001
|
NM_005633.4(SOS1):c.3510+9A>G
|
rs1229357367
|
0.00001
|
NM_005633.4(SOS1):c.3662G>C (p.Arg1221Thr)
|
rs768987761
|
0.00001
|
NM_005633.4(SOS1):c.376G>A (p.Val126Ile)
|
rs755770649
|
0.00001
|
NM_005633.4(SOS1):c.511-5T>C
|
rs1558491271
|
0.00001
|
NM_005633.4(SOS1):c.688T>G (p.Phe230Val)
|
rs397517177
|
0.00001
|
NM_005633.4(SOS1):c.754A>C (p.Ile252Leu)
|
rs1158811958
|
0.00001
|
NM_005633.4(SOS1):c.847T>C (p.Phe283Leu)
|
rs1222945881
|
0.00001
|
NM_005633.4(SOS1):c.985G>A (p.Glu329Lys)
|
rs756679265
|
0.00001
|
NM_005677.4(COLQ):c.1214G>T (p.Cys405Phe)
|
rs1336071409
|
0.00001
|
NM_005677.4(COLQ):c.1A>G (p.Met1Val)
|
rs754147251
|
0.00001
|
NM_005732.4(RAD50):c.129+5G>A
|
rs587781409
|
0.00001
|
NM_005732.4(RAD50):c.1353T>A (p.Ser451Arg)
|
rs587782523
|
0.00001
|
NM_005732.4(RAD50):c.2092A>G (p.Ile698Val)
|
rs781213977
|
0.00001
|
NM_005732.4(RAD50):c.2502G>C (p.Glu834Asp)
|
rs377438445
|
0.00001
|
NM_005732.4(RAD50):c.3206G>T (p.Arg1069Ile)
|
rs769003601
|
0.00001
|
NM_005732.4(RAD50):c.3767G>A (p.Arg1256His)
|
rs786203127
|
0.00001
|
NM_005732.4(RAD50):c.3824A>G (p.Glu1275Gly)
|
rs372924978
|
0.00001
|
NM_005751.5(AKAP9):c.10523G>A (p.Cys3508Tyr)
|
rs750007670
|
0.00001
|
NM_005751.5(AKAP9):c.11347C>T (p.Arg3783Ter)
|
rs376277241
|
0.00001
|
NM_005751.5(AKAP9):c.11348G>A (p.Arg3783Gln)
|
rs143967328
|
0.00001
|
NM_005751.5(AKAP9):c.2312C>A (p.Ala771Glu)
|
rs1259922164
|
0.00001
|
NM_005751.5(AKAP9):c.5460G>T (p.Glu1820Asp)
|
rs890787072
|
0.00001
|
NM_005787.6(ALG3):c.611C>T (p.Ala204Val)
|
rs1719034314
|
0.00001
|
NM_005902.4(SMAD3):c.532+8C>T
|
rs370879516
|
0.00001
|
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)
|
rs1057519360
|
0.00001
|
NM_006030.4(CACNA2D2):c.2935C>T (p.Leu979Phe)
|
rs587637498
|
0.00001
|
NM_006073.4(TRDN):c.1567+2T>C
|
rs1384476992
|
0.00001
|
NM_006118.4(HAX1):c.136C>T (p.Arg46Cys)
|
rs1170911395
|
0.00001
|
NM_006180.6(NTRK2):c.1937+18G>C
|
rs201024551
|
0.00001
|
NM_006231.4(POLE):c.1760A>G (p.Lys587Arg)
|
rs750826256
|
0.00001
|
NM_006231.4(POLE):c.2214G>C (p.Lys738Asn)
|
rs749305408
|
0.00001
|
NM_006231.4(POLE):c.272G>A (p.Gly91Glu)
|
rs376348304
|
0.00001
|
NM_006231.4(POLE):c.4018A>G (p.Ser1340Gly)
|
rs1248556901
|
0.00001
|
NM_006231.4(POLE):c.4445-7T>C
|
rs754001064
|
0.00001
|
NM_006231.4(POLE):c.5678+1G>A
|
rs138748289
|
0.00001
|
NM_006231.4(POLE):c.5726G>A (p.Arg1909Gln)
|
rs201455049
|
0.00001
|
NM_006231.4(POLE):c.6298C>G (p.Pro2100Ala)
|
rs562071800
|
0.00001
|
NM_006258.4(PRKG1):c.2053G>C (p.Asp685His)
|
rs1398800687
|
0.00001
|
NM_006258.4(PRKG1):c.763-8C>T
|
rs777859336
|
0.00001
|
NM_006270.5(RRAS):c.-5G>A
|
rs1177664746
|
0.00001
|
NM_006270.5(RRAS):c.153+13del
|
rs1224992203
|
0.00001
|
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys)
|
rs537601977
|
0.00001
|
NM_006270.5(RRAS):c.325G>A (p.Ala109Thr)
|
rs1358894507
|
0.00001
|
NM_006270.5(RRAS):c.421G>A (p.Gly141Arg)
|
rs373485975
|
0.00001
|
NM_006270.5(RRAS):c.496G>A (p.Val166Met)
|
rs151171681
|
0.00001
|
NM_006270.5(RRAS):c.562C>T (p.Arg188Trp)
|
rs538230538
|
0.00001
|
NM_006361.6(HOXB13):c.199C>T (p.Pro67Ser)
|
rs587780161
|
0.00001
|
NM_006393.3(NEBL):c.1961A>T (p.Asn654Ile)
|
rs1839521789
|
0.00001
|
NM_006415.4(SPTLC1):c.655C>T (p.Arg219Ter)
|
rs758622840
|
0.00001
|
NM_006493.4(CLN5):c.472T>C (p.Trp158Arg)
|
rs147065248
|
0.00001
|
NM_006506.5(RASA2):c.133+10G>A
|
rs775544477
|
0.00001
|
NM_006506.5(RASA2):c.1886G>A (p.Arg629Gln)
|
rs1469875156
|
0.00001
|
NM_006506.5(RASA2):c.2225C>T (p.Ala742Val)
|
rs774848188
|
0.00001
|
NM_006506.5(RASA2):c.2329+7A>G
|
rs1444704196
|
0.00001
|
NM_006506.5(RASA2):c.847T>G (p.Ser283Ala)
|
rs186067272
|
0.00001
|
NM_006506.5(RASA2):c.863+13C>A
|
rs776517254
|
0.00001
|
NM_006514.4(SCN10A):c.3619G>T (p.Ala1207Ser)
|
rs756162245
|
0.00001
|
NM_006565.4(CTCF):c.2089G>A (p.Ala697Thr)
|
rs201916739
|
0.00001
|
NM_006623.4(PHGDH):c.880C>T (p.Arg294Cys)
|
rs1390624793
|
0.00001
|
NM_006662.3(SRCAP):c.4001C>T (p.Pro1334Leu)
|
rs560375220
|
0.00001
|
NM_006766.5(KAT6A):c.2689G>C (p.Glu897Gln)
|
rs1367238054
|
0.00001
|
NM_006766.5(KAT6A):c.3740G>T (p.Ser1247Ile)
|
rs1564005684
|
0.00001
|
NM_006767.4(LZTR1):c.1149+3A>G
|
rs542715642
|
0.00001
|
NM_006767.4(LZTR1):c.1260+11T>A
|
rs1298556569
|
0.00001
|
NM_006767.4(LZTR1):c.1260+3G>A
|
rs1408575907
|
0.00001
|
NM_006767.4(LZTR1):c.1283C>T (p.Thr428Met)
|
rs1253225013
|
0.00001
|
NM_006767.4(LZTR1):c.1354-5T>A
|
rs368421766
|
0.00001
|
NM_006767.4(LZTR1):c.1609C>T (p.Arg537Trp)
|
rs754507552
|
0.00001
|
NM_006767.4(LZTR1):c.1615G>A (p.Gly539Ser)
|
rs1232362523
|
0.00001
|
NM_006767.4(LZTR1):c.1616-11C>G
|
rs767886246
|
0.00001
|
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs)
|
rs1460026299
|
0.00001
|
NM_006767.4(LZTR1):c.1735G>A (p.Val579Met)
|
rs765416902
|
0.00001
|
NM_006767.4(LZTR1):c.1842G>A (p.Met614Ile)
|
rs763044573
|
0.00001
|
NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln)
|
rs781776791
|
0.00001
|
NM_006767.4(LZTR1):c.1907C>T (p.Pro636Leu)
|
rs553579098
|
0.00001
|
NM_006767.4(LZTR1):c.1934T>G (p.Val645Gly)
|
rs1190268151
|
0.00001
|
NM_006767.4(LZTR1):c.1943-6C>A
|
rs757311430
|
0.00001
|
NM_006767.4(LZTR1):c.1964T>C (p.Met655Thr)
|
rs199696566
|
0.00001
|
NM_006767.4(LZTR1):c.2216C>T (p.Ser739Leu)
|
rs762991620
|
0.00001
|
NM_006767.4(LZTR1):c.2278T>C (p.Cys760Arg)
|
rs1419388177
|
0.00001
|
NM_006767.4(LZTR1):c.2312A>G (p.Gln771Arg)
|
rs766983171
|
0.00001
|
NM_006767.4(LZTR1):c.482del (p.Gln161fs)
|
rs1924462309
|
0.00001
|
NM_006767.4(LZTR1):c.542C>T (p.Thr181Met)
|
rs774992323
|
0.00001
|
NM_006767.4(LZTR1):c.589G>A (p.Ala197Thr)
|
rs371522487
|
0.00001
|
NM_006767.4(LZTR1):c.658C>T (p.Gln220Ter)
|
rs749437251
|
0.00001
|
NM_006772.3(SYNGAP1):c.2225G>A (p.Arg742Gln)
|
rs959800067
|
0.00001
|
NM_006772.3(SYNGAP1):c.3583-3C>T
|
rs771888857
|
0.00001
|
NM_006785.4(MALT1):c.1868C>T (p.Pro623Leu)
|
rs1004957123
|
0.00001
|
NM_006904.7(PRKDC):c.1826C>T (p.Ala609Val)
|
rs761291525
|
0.00001
|
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu)
|
rs747376042
|
0.00001
|
NM_006929.5(SKIC2):c.1732C>T (p.Arg578Cys)
|
rs762204789
|
0.00001
|
NM_006939.4(SOS2):c.1633C>T (p.Arg545Cys)
|
rs148019428
|
0.00001
|
NM_006939.4(SOS2):c.189G>C (p.Gln63His)
|
rs771269309
|
0.00001
|
NM_006939.4(SOS2):c.1911A>T (p.Glu637Asp)
|
rs751563078
|
0.00001
|
NM_006939.4(SOS2):c.2958+17C>T
|
rs889359090
|
0.00001
|
NM_006939.4(SOS2):c.3026A>G (p.Asn1009Ser)
|
rs779413196
|
0.00001
|
NM_006939.4(SOS2):c.970-14T>A
|
rs758285778
|
0.00001
|
NM_006941.4(SOX10):c.622A>G (p.Lys208Glu)
|
rs1400625808
|
0.00001
|
NM_006946.4(SPTBN2):c.1753G>A (p.Glu585Lys)
|
rs573639670
|
0.00001
|
NM_006947.4(SRP72):c.1477C>A (p.Leu493Ile)
|
rs765292874
|
0.00001
|
NM_006949.4(STXBP2):c.184A>G (p.Asn62Asp)
|
rs368283130
|
0.00001
|
NM_006949.4(STXBP2):c.902+4C>T
|
rs1349313045
|
0.00001
|
NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly)
|
rs777547764
|
0.00001
|
NM_007078.3(LDB3):c.1805A>C (p.Tyr602Ser)
|
rs1349969494
|
0.00001
|
NM_007078.3(LDB3):c.281C>T (p.Pro94Leu)
|
rs772912790
|
0.00001
|
NM_007078.3(LDB3):c.655C>T (p.Arg219Ter)
|
rs727503123
|
0.00001
|
NM_007078.3(LDB3):c.892T>G (p.Ser298Ala)
|
rs953198544
|
0.00001
|
NM_007078.3(LDB3):c.91C>T (p.Arg31Trp)
|
rs367792378
|
0.00001
|
NM_007194.4(CHEK2):c.1013T>A (p.Leu338His)
|
rs374660293
|
0.00001
|
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His)
|
rs730881688
|
0.00001
|
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu)
|
rs121908703
|
0.00001
|
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys)
|
rs587780169
|
0.00001
|
NM_007194.4(CHEK2):c.1195G>A (p.Val399Ile)
|
rs876658682
|
0.00001
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
NM_007194.4(CHEK2):c.1438G>A (p.Ala480Thr)
|
rs773600515
|
0.00001
|
NM_007194.4(CHEK2):c.1462G>A (p.Asp488Asn)
|
rs886041173
|
0.00001
|
NM_007194.4(CHEK2):c.1499C>T (p.Ser500Phe)
|
rs28909981
|
0.00001
|
NM_007194.4(CHEK2):c.1522C>G (p.Leu508Val)
|
rs876660898
|
0.00001
|
NM_007194.4(CHEK2):c.158C>G (p.Ser53Cys)
|
rs753204096
|
0.00001
|
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys)
|
rs587781710
|
0.00001
|
NM_007194.4(CHEK2):c.1622C>T (p.Ala541Val)
|
rs2052180370
|
0.00001
|
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe)
|
rs730881695
|
0.00001
|
NM_007194.4(CHEK2):c.173G>C (p.Gly58Ala)
|
rs1569170717
|
0.00001
|
NM_007194.4(CHEK2):c.200C>A (p.Ser67Tyr)
|
rs886041171
|
0.00001
|
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys)
|
rs769819013
|
0.00001
|
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser)
|
rs876660788
|
0.00001
|
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr)
|
rs1060502688
|
0.00001
|
NM_007194.4(CHEK2):c.444+6T>C
|
rs1060502720
|
0.00001
|
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly)
|
rs587781652
|
0.00001
|
NM_007194.4(CHEK2):c.592+4A>G
|
rs375905418
|
0.00001
|
NM_007194.4(CHEK2):c.59A>G (p.Gln20Arg)
|
rs753257724
|
0.00001
|
NM_007194.4(CHEK2):c.629C>T (p.Ser210Leu)
|
rs767253467
|
0.00001
|
NM_007194.4(CHEK2):c.683+9T>C
|
rs1060504691
|
0.00001
|
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys)
|
rs587782460
|
0.00001
|
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp)
|
rs587780190
|
0.00001
|
NM_007194.4(CHEK2):c.908+10A>G
|
rs774973319
|
0.00001
|
NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp)
|
rs587780191
|
0.00001
|
NM_007215.4(POLG2):c.-5G>A
|
rs782806271
|
0.00001
|
NM_007294.4(BRCA1):c.1228G>A (p.Ala410Thr)
|
rs779974365
|
0.00001
|
NM_007294.4(BRCA1):c.1258G>T (p.Asp420Tyr)
|
rs80357488
|
0.00001
|
NM_007294.4(BRCA1):c.1333G>C (p.Glu445Gln)
|
rs80356915
|
0.00001
|
NM_007294.4(BRCA1):c.134+19dup
|
rs768647585
|
0.00001
|
NM_007294.4(BRCA1):c.135-18T>G
|
rs80358085
|
0.00001
|
NM_007294.4(BRCA1):c.1367T>C (p.Ile456Thr)
|
rs80357360
|
0.00001
|
NM_007294.4(BRCA1):c.1383T>A (p.Phe461Leu)
|
rs56046357
|
0.00001
|
NM_007294.4(BRCA1):c.1384G>A (p.Gly462Arg)
|
rs80357221
|
0.00001
|
NM_007294.4(BRCA1):c.1508A>G (p.Lys503Arg)
|
rs62625304
|
0.00001
|
NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys)
|
rs80357445
|
0.00001
|
NM_007294.4(BRCA1):c.1541C>T (p.Pro514Leu)
|
rs56100707
|
0.00001
|
NM_007294.4(BRCA1):c.1555A>C (p.Lys519Gln)
|
rs397508882
|
0.00001
|
NM_007294.4(BRCA1):c.1609A>G (p.Asn537Asp)
|
rs398122639
|
0.00001
|
NM_007294.4(BRCA1):c.1658A>G (p.His553Arg)
|
rs748431827
|
0.00001
|
NM_007294.4(BRCA1):c.1702C>T (p.Pro568Ser)
|
rs755122577
|
0.00001
|
NM_007294.4(BRCA1):c.1711A>G (p.Ile571Val)
|
rs1310719199
|
0.00001
|
NM_007294.4(BRCA1):c.1712T>C (p.Ile571Thr)
|
rs80357159
|
0.00001
|
NM_007294.4(BRCA1):c.172C>G (p.Pro58Ala)
|
rs397508904
|
0.00001
|
NM_007294.4(BRCA1):c.1766G>T (p.Ser589Ile)
|
rs1567798335
|
0.00001
|
NM_007294.4(BRCA1):c.1772T>C (p.Ile591Thr)
|
rs80356859
|
0.00001
|
NM_007294.4(BRCA1):c.1898C>T (p.Pro633Leu)
|
rs398122647
|
0.00001
|
NM_007294.4(BRCA1):c.1907G>A (p.Cys636Tyr)
|
rs398122649
|
0.00001
|
NM_007294.4(BRCA1):c.1920A>T (p.Gln640His)
|
rs587782843
|
0.00001
|
NM_007294.4(BRCA1):c.1922T>C (p.Ile641Thr)
|
rs730881474
|
0.00001
|
NM_007294.4(BRCA1):c.193A>G (p.Lys65Glu)
|
rs756948486
|
0.00001
|
NM_007294.4(BRCA1):c.2043T>G (p.Ser681Arg)
|
rs143920945
|
0.00001
|
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser)
|
rs397508934
|
0.00001
|
NM_007294.4(BRCA1):c.206C>T (p.Thr69Ile)
|
rs273898675
|
0.00001
|
NM_007294.4(BRCA1):c.2078A>G (p.Asp693Gly)
|
rs756748588
|
0.00001
|
NM_007294.4(BRCA1):c.2180C>T (p.Pro727Leu)
|
rs80356912
|
0.00001
|
NM_007294.4(BRCA1):c.2222C>G (p.Ser741Cys)
|
rs80357051
|
0.00001
|
NM_007294.4(BRCA1):c.2246A>T (p.Asp749Val)
|
rs730881479
|
0.00001
|
NM_007294.4(BRCA1):c.2252T>C (p.Met751Thr)
|
rs587781684
|
0.00001
|
NM_007294.4(BRCA1):c.2268G>C (p.Arg756Ser)
|
rs80356884
|
0.00001
|
NM_007294.4(BRCA1):c.2312T>C (p.Leu771Ser)
|
rs730881481
|
0.00001
|
NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp)
|
rs397507199
|
0.00001
|
NM_007294.4(BRCA1):c.2404G>C (p.Val802Leu)
|
rs876660885
|
0.00001
|
NM_007294.4(BRCA1):c.2416G>A (p.Ala806Thr)
|
rs80357144
|
0.00001
|
NM_007294.4(BRCA1):c.2468G>T (p.Arg823Ile)
|
rs876659731
|
0.00001
|
NM_007294.4(BRCA1):c.2483_2485del (p.Gly828_Phe829delinsVal)
|
rs80358331
|
0.00001
|
NM_007294.4(BRCA1):c.2564A>C (p.Gln855Pro)
|
rs768001441
|
0.00001
|
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His)
|
rs80356911
|
0.00001
|
NM_007294.4(BRCA1):c.2690C>T (p.Pro897Leu)
|
rs587776484
|
0.00001
|
NM_007294.4(BRCA1):c.2750T>C (p.Ile917Thr)
|
rs587781492
|
0.00001
|
NM_007294.4(BRCA1):c.2791G>T (p.Val931Leu)
|
rs763639161
|
0.00001
|
NM_007294.4(BRCA1):c.301+6T>C
|
rs753859240
|
0.00001
|
NM_007294.4(BRCA1):c.302-11G>A
|
rs1057521776
|
0.00001
|
NM_007294.4(BRCA1):c.302A>G (p.Tyr101Cys)
|
rs587781798
|
0.00001
|
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)
|
rs80357049
|
0.00001
|
NM_007294.4(BRCA1):c.3155A>G (p.Asn1052Ser)
|
rs398122672
|
0.00001
|
NM_007294.4(BRCA1):c.3169A>G (p.Ser1057Gly)
|
rs80357479
|
0.00001
|
NM_007294.4(BRCA1):c.3211G>A (p.Glu1071Lys)
|
rs41293445
|
0.00001
|
NM_007294.4(BRCA1):c.3221G>C (p.Arg1074Thr)
|
rs786202155
|
0.00001
|
NM_007294.4(BRCA1):c.3267G>T (p.Leu1089Phe)
|
rs767544239
|
0.00001
|
NM_007294.4(BRCA1):c.3305A>G (p.Asn1102Ser)
|
rs80356900
|
0.00001
|
NM_007294.4(BRCA1):c.3533G>A (p.Ser1178Asn)
|
rs1294360179
|
0.00001
|
NM_007294.4(BRCA1):c.3587C>T (p.Thr1196Ile)
|
rs80356944
|
0.00001
|
NM_007294.4(BRCA1):c.3625T>G (p.Leu1209Val)
|
rs273900711
|
0.00001
|
NM_007294.4(BRCA1):c.3652A>G (p.Ser1218Gly)
|
rs80356894
|
0.00001
|
NM_007294.4(BRCA1):c.3746C>G (p.Thr1249Ser)
|
rs80357099
|
0.00001
|
NM_007294.4(BRCA1):c.3750G>C (p.Glu1250Asp)
|
rs145903082
|
0.00001
|
NM_007294.4(BRCA1):c.3784T>C (p.Ser1262Pro)
|
rs1011096937
|
0.00001
|
NM_007294.4(BRCA1):c.380G>A (p.Ser127Asn)
|
rs80357189
|
0.00001
|
NM_007294.4(BRCA1):c.3848A>G (p.His1283Arg)
|
rs80357047
|
0.00001
|
NM_007294.4(BRCA1):c.3857G>C (p.Ser1286Thr)
|
rs142383077
|
0.00001
|
NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu)
|
rs80357254
|
0.00001
|
NM_007294.4(BRCA1):c.3902G>A (p.Ser1301Asn)
|
rs1057519496
|
0.00001
|
NM_007294.4(BRCA1):c.3944C>G (p.Pro1315Arg)
|
rs80357500
|
0.00001
|
NM_007294.4(BRCA1):c.4028A>T (p.Asp1343Val)
|
rs775339017
|
0.00001
|
NM_007294.4(BRCA1):c.4031A>G (p.Asp1344Gly)
|
rs55639854
|
0.00001
|
NM_007294.4(BRCA1):c.4032T>A (p.Asp1344Glu)
|
rs769589630
|
0.00001
|
NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly)
|
rs397507225
|
0.00001
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr)
|
rs55848034
|
0.00001
|
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg)
|
rs80356986
|
0.00001
|
NM_007294.4(BRCA1):c.4144T>A (p.Cys1382Ser)
|
rs786202106
|
0.00001
|
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)
|
rs78951648
|
0.00001
|
NM_007294.4(BRCA1):c.4237G>A (p.Glu1413Lys)
|
rs397509153
|
0.00001
|
NM_007294.4(BRCA1):c.4339C>A (p.Gln1447Lys)
|
rs80357067
|
0.00001
|
NM_007294.4(BRCA1):c.4361T>C (p.Val1454Ala)
|
rs587782606
|
0.00001
|
NM_007294.4(BRCA1):c.442-1G>T
|
rs1351019392
|
0.00001
|
NM_007294.4(BRCA1):c.4484+6A>C
|
rs879255297
|
0.00001
|
NM_007294.4(BRCA1):c.4485-8C>T
|
rs397507234
|
0.00001
|
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr)
|
rs80357470
|
0.00001
|
NM_007294.4(BRCA1):c.455T>C (p.Leu152Pro)
|
rs80357275
|
0.00001
|
NM_007294.4(BRCA1):c.4643C>T (p.Thr1548Met)
|
rs273900737
|
0.00001
|
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile)
|
rs80357076
|
0.00001
|
NM_007294.4(BRCA1):c.465A>T (p.Gln155His)
|
rs864622260
|
0.00001
|
NM_007294.4(BRCA1):c.4675+20A>G
|
rs780870669
|
0.00001
|
NM_007294.4(BRCA1):c.470C>G (p.Ser157Cys)
|
rs80357045
|
0.00001
|
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)
|
rs80356987
|
0.00001
|
NM_007294.4(BRCA1):c.484G>C (p.Val162Leu)
|
rs55816927
|
0.00001
|
NM_007294.4(BRCA1):c.4858A>G (p.Thr1620Ala)
|
rs8176219
|
0.00001
|
NM_007294.4(BRCA1):c.488G>C (p.Arg163Thr)
|
rs1369043501
|
0.00001
|
NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr)
|
rs80357061
|
0.00001
|
NM_007294.4(BRCA1):c.5075-18G>A
|
rs1060504564
|
0.00001
|
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp)
|
rs80357325
|
0.00001
|
NM_007294.4(BRCA1):c.5153-3T>C
|
rs375639469
|
0.00001
|
NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu)
|
rs398122695
|
0.00001
|
NM_007294.4(BRCA1):c.5406+5G>T
|
rs80358073
|
0.00001
|
NM_007294.4(BRCA1):c.5408G>A (p.Gly1803Asp)
|
rs80357149
|
0.00001
|
NM_007294.4(BRCA1):c.5501C>T (p.Thr1834Ile)
|
rs730881500
|
0.00001
|
NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln)
|
rs273902776
|
0.00001
|
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr)
|
rs755427809
|
0.00001
|
NM_007294.4(BRCA1):c.701C>A (p.Thr234Lys)
|
rs1555593290
|
0.00001
|
NM_007294.4(BRCA1):c.734A>T (p.Asp245Val)
|
rs80356865
|
0.00001
|
NM_007294.4(BRCA1):c.788G>A (p.Gly263Asp)
|
rs397509319
|
0.00001
|
NM_007294.4(BRCA1):c.80+7C>T
|
rs80358098
|
0.00001
|
NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg)
|
rs748156170
|
0.00001
|
NM_007327.4(GRIN1):c.2170A>T (p.Asn724Tyr)
|
rs766459225
|
0.00001
|
NM_012123.4(MTO1):c.791C>T (p.Pro264Leu)
|
rs1025884753
|
0.00001
|
NM_012243.3(SLC35A3):c.73C>T (p.Arg25Cys)
|
rs753997682
|
0.00001
|
NM_012388.4(BLOC1S6):c.335dup (p.His112fs)
|
rs762974622
|
0.00001
|
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)
|
rs587779410
|
0.00001
|
NM_012452.3(TNFRSF13B):c.11T>C (p.Leu4Pro)
|
rs2087749301
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1057A>G (p.Ile353Val)
|
rs374873455
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1214C>T (p.Pro405Leu)
|
rs750788949
|
0.00001
|
NM_012463.4(ATP6V0A2):c.806G>A (p.Arg269His)
|
rs1295585374
|
0.00001
|
NM_013275.6(ANKRD11):c.3869A>G (p.His1290Arg)
|
rs764356904
|
0.00001
|
NM_013382.7(POMT2):c.1699C>T (p.Pro567Ser)
|
rs727502858
|
0.00001
|
NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp)
|
rs372939905
|
0.00001
|
NM_013382.7(POMT2):c.244A>T (p.Ile82Phe)
|
rs373944477
|
0.00001
|
NM_013382.7(POMT2):c.275T>C (p.Met92Thr)
|
rs775489616
|
0.00001
|
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys)
|
rs199719668
|
0.00001
|
NM_013975.4(LIG3):c.1193A>G (p.Gln398Arg)
|
rs781367751
|
0.00001
|
NM_013975.4(LIG3):c.1555A>G (p.Asn519Asp)
|
rs763624496
|
0.00001
|
NM_014000.3(VCL):c.1292T>G (p.Ile431Ser)
|
rs766192312
|
0.00001
|
NM_014000.3(VCL):c.1798A>C (p.Ser600Arg)
|
rs397517236
|
0.00001
|
NM_014000.3(VCL):c.625A>T (p.Met209Leu)
|
rs144683137
|
0.00001
|
NM_014028.4(OSTM1):c.56C>T (p.Pro19Leu)
|
rs762141251
|
0.00001
|
NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln)
|
rs750899715
|
0.00001
|
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val)
|
rs762521317
|
0.00001
|
NM_014225.6(PPP2R1A):c.78+7A>C
|
rs1240197556
|
0.00001
|
NM_014233.4(UBTF):c.497A>G (p.Gln166Arg)
|
rs1426632040
|
0.00001
|
NM_014236.4(GNPAT):c.742C>T (p.Arg248Cys)
|
rs1442079596
|
0.00001
|
NM_014363.6(SACS):c.6235T>C (p.Phe2079Leu)
|
rs1364796862
|
0.00001
|
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)
|
rs911764681
|
0.00001
|
NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly)
|
rs762352013
|
0.00001
|
NM_014363.6(SACS):c.7187C>G (p.Thr2396Ser)
|
rs1303289497
|
0.00001
|
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu)
|
rs1213203489
|
0.00001
|
NM_014391.3(ANKRD1):c.193C>A (p.Gln65Lys)
|
rs139169078
|
0.00001
|
NM_014585.6(SLC40A1):c.887G>A (p.Arg296Gln)
|
rs772246537
|
0.00001
|
NM_014639.4(SKIC3):c.3646G>A (p.Val1216Ile)
|
rs555525541
|
0.00001
|
NM_014697.3(NOS1AP):c.1205C>T (p.Pro402Leu)
|
rs1249679104
|
0.00001
|
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala)
|
rs1057518064
|
0.00001
|
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp)
|
rs773768491
|
0.00001
|
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp)
|
rs755315693
|
0.00001
|
NM_014780.5(CUL7):c.3000G>A (p.Met1000Ile)
|
rs1239557315
|
0.00001
|
NM_014797.3(ZBTB24):c.1614G>C (p.Gln538His)
|
rs778764491
|
0.00001
|
NM_014797.3(ZBTB24):c.569A>G (p.Asn190Ser)
|
rs542752221
|
0.00001
|
NM_014844.5(TECPR2):c.2708C>T (p.Thr903Met)
|
rs752912949
|
0.00001
|
NM_014875.3(KIF14):c.3248C>T (p.Thr1083Ile)
|
rs766057394
|
0.00001
|
NM_014875.3(KIF14):c.88C>T (p.Leu30Phe)
|
rs936413897
|
0.00001
|
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe)
|
rs982668501
|
0.00001
|
NM_015021.3(ZNF292):c.3767A>T (p.Asp1256Val)
|
rs753893386
|
0.00001
|
NM_015107.3(PHF8):c.257C>T (p.Thr86Met)
|
rs782156466
|
0.00001
|
NM_015175.3(NBEAL2):c.6657C>A (p.Phe2219Leu)
|
rs749279630
|
0.00001
|
NM_015267.4(CUX2):c.2708G>A (p.Arg903His)
|
rs1376326529
|
0.00001
|
NM_015295.3(SMCHD1):c.1326T>G (p.Asp442Glu)
|
rs199596161
|
0.00001
|
NM_015311.3(OBSL1):c.5590dup (p.Ser1864fs)
|
rs750568728
|
0.00001
|
NM_015330.6(SPECC1L):c.1382G>A (p.Arg461Gln)
|
rs1169891186
|
0.00001
|
NM_015335.5(MED13L):c.3155G>A (p.Arg1052Gln)
|
rs977444793
|
0.00001
|
NM_015335.5(MED13L):c.6013A>T (p.Ile2005Phe)
|
rs1876518341
|
0.00001
|
NM_015404.4(WHRN):c.2542-1G>A
|
rs1250528376
|
0.00001
|
NM_015450.3(POT1):c.1832A>G (p.Asn611Ser)
|
rs376707680
|
0.00001
|
NM_015488.5(PNKD):c.551T>C (p.Leu184Pro)
|
rs1243303171
|
0.00001
|
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly)
|
rs1217366809
|
0.00001
|
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)
|
rs759921519
|
0.00001
|
NM_015559.3(SETBP1):c.4724del (p.Gln1575fs)
|
rs746925505
|
0.00001
|
NM_015627.3(LDLRAP1):c.223G>A (p.Val75Met)
|
rs767491845
|
0.00001
|
NM_015627.3(LDLRAP1):c.339A>G (p.Ile113Met)
|
rs780582666
|
0.00001
|
NM_015627.3(LDLRAP1):c.533-7C>A
|
rs990692653
|
0.00001
|
NM_015681.6(B9D1):c.236C>T (p.Pro79Leu)
|
rs919713893
|
0.00001
|
NM_015681.6(B9D1):c.467G>A (p.Arg156Gln)
|
rs886038205
|
0.00001
|
NM_015909.4(NBAS):c.335+4A>G
|
rs1352462112
|
0.00001
|
NM_015909.4(NBAS):c.3838C>T (p.Arg1280Trp)
|
rs368280415
|
0.00001
|
NM_015909.4(NBAS):c.6124A>G (p.Met2042Val)
|
rs745940158
|
0.00001
|
NM_015909.4(NBAS):c.680A>C (p.His227Pro)
|
rs748880753
|
0.00001
|
NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro)
|
rs387907195
|
0.00001
|
NM_016203.4(PRKAG2):c.137C>T (p.Pro46Leu)
|
rs373477232
|
0.00001
|
NM_016203.4(PRKAG2):c.659C>T (p.Pro220Leu)
|
rs200181419
|
0.00001
|
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln)
|
rs760980785
|
0.00001
|
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys)
|
rs371352836
|
0.00001
|
NM_016302.4(CRBN):c.1117C>T (p.Arg373Trp)
|
rs775940573
|
0.00001
|
NM_016335.6(PRODH):c.1615+1G>C
|
rs745902339
|
0.00001
|
NM_016343.4(CENPF):c.117T>G (p.Phe39Leu)
|
rs746591240
|
0.00001
|
NM_016529.6(ATP8A2):c.1295C>T (p.Thr432Met)
|
rs745650033
|
0.00001
|
NM_016953.4(PDE11A):c.2231T>G (p.Ile744Ser)
|
rs776319665
|
0.00001
|
NM_017415.3(KLHL3):c.1292G>A (p.Arg431Gln)
|
rs199469643
|
0.00001
|
NM_017617.5(NOTCH1):c.2261A>G (p.Asn754Ser)
|
rs761072761
|
0.00001
|
NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn)
|
rs375931404
|
0.00001
|
NM_017617.5(NOTCH1):c.4014+8C>G
|
rs748956877
|
0.00001
|
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val)
|
rs748862853
|
0.00001
|
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met)
|
rs769693988
|
0.00001
|
NM_017636.4(TRPM4):c.1795A>G (p.Met599Val)
|
rs139753455
|
0.00001
|
NM_017668.3(NDE1):c.948-3365C>T
|
rs374628714
|
0.00001
|
NM_017755.6(NSUN2):c.1103C>T (p.Thr368Met)
|
rs200705396
|
0.00001
|
NM_017757.3(ZNF407):c.3773G>A (p.Arg1258His)
|
rs747340041
|
0.00001
|
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
|
rs773684291
|
0.00001
|
NM_017780.4(CHD7):c.7140C>G (p.Ile2380Met)
|
rs1287878235
|
0.00001
|
NM_017952.6(PTCD3):c.719C>G (p.Ala240Gly)
|
rs760231243
|
0.00001
|
NM_018006.5(TRMU):c.2T>G (p.Met1Arg)
|
rs118203992
|
0.00001
|
NM_018062.4(FANCL):c.50C>G (p.Pro17Arg)
|
rs773768206
|
0.00001
|
NM_018100.4(EFHC1):c.139A>G (p.Ile47Val)
|
rs1764249771
|
0.00001
|
NM_018112.3(TMEM38B):c.-10G>A
|
rs757700902
|
0.00001
|
NM_018129.4(PNPO):c.148G>A (p.Glu50Lys)
|
rs549477447
|
0.00001
|
NM_018196.4(TMLHE):c.113C>T (p.Ala38Val)
|
rs781834884
|
0.00001
|
NM_018297.4(NGLY1):c.1A>G (p.Met1Val)
|
rs772627507
|
0.00001
|
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys)
|
rs201791209
|
0.00001
|
NM_018341.3(ERMARD):c.1607T>C (p.Leu536Pro)
|
rs1562350675
|
0.00001
|
NM_018418.5(SPATA7):c.620T>A (p.Phe207Tyr)
|
rs1177680731
|
0.00001
|
NM_018838.5(NDUFA12):c.260A>G (p.His87Arg)
|
rs781198263
|
0.00001
|
NM_018941.4(CLN8):c.509C>T (p.Thr170Met)
|
rs188259026
|
0.00001
|
NM_019014.6(POLR1B):c.1976A>G (p.Gln659Arg)
|
rs1476199084
|
0.00001
|
NM_019066.5(MAGEL2):c.3115G>A (p.Val1039Met)
|
rs1431980186
|
0.00001
|
NM_019066.5(MAGEL2):c.3526G>A (p.Glu1176Lys)
|
rs1890340333
|
0.00001
|
NM_019098.5(CNGB3):c.1306A>C (p.Ser436Arg)
|
rs748354081
|
0.00001
|
NM_019098.5(CNGB3):c.680T>C (p.Leu227Pro)
|
rs752920111
|
0.00001
|
NM_019109.5(ALG1):c.1146G>A (p.Met382Ile)
|
rs778368053
|
0.00001
|
NM_019109.5(ALG1):c.1359G>C (p.Trp453Cys)
|
rs775918513
|
0.00001
|
NM_019842.4(KCNQ5):c.2444T>C (p.Leu815Pro)
|
rs1204507146
|
0.00001
|
NM_019892.6(INPP5E):c.1669C>T (p.Arg557Cys)
|
rs1024279229
|
0.00001
|
NM_019892.6(INPP5E):c.907G>A (p.Val303Met)
|
rs746212325
|
0.00001
|
NM_020117.11(LARS1):c.3286A>G (p.Ile1096Val)
|
rs373129039
|
0.00001
|
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys)
|
rs1333357031
|
0.00001
|
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys)
|
rs375996272
|
0.00001
|
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)
|
rs746500530
|
0.00001
|
NM_020297.4(ABCC9):c.3669+1G>C
|
rs950805207
|
0.00001
|
NM_020297.4(ABCC9):c.4094T>C (p.Ile1365Thr)
|
rs1328493674
|
0.00001
|
NM_020297.4(ABCC9):c.4512T>A (p.Ala1504=)
|
rs777591544
|
0.00001
|
NM_020320.5(RARS2):c.1024A>G (p.Met342Val)
|
rs387907048
|
0.00001
|
NM_020320.5(RARS2):c.1650+5G>A
|
rs750433723
|
0.00001
|
NM_020338.4(ZMIZ1):c.595C>G (p.Pro199Ala)
|
rs1226022539
|
0.00001
|
NM_020365.5(EIF2B3):c.687T>G (p.Ile229Met)
|
rs538917969
|
0.00001
|
NM_020365.5(EIF2B3):c.935G>A (p.Arg312Gln)
|
rs776505832
|
0.00001
|
NM_020366.4(RPGRIP1):c.953C>T (p.Ala318Val)
|
rs1325466987
|
0.00001
|
NM_020433.5(JPH2):c.1394C>T (p.Pro465Leu)
|
rs908189174
|
0.00001
|
NM_020458.4(TTC7A):c.2515G>A (p.Ala839Thr)
|
rs202044972
|
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_020717.5(SHROOM4):c.30C>G (p.Tyr10Ter)
|
rs1428157543
|
0.00001
|
NM_020745.4(AARS2):c.1213G>A (p.Glu405Lys)
|
rs587777592
|
0.00001
|
NM_020822.3(KCNT1):c.2905G>A (p.Val969Ile)
|
rs1216283172
|
0.00001
|
NM_020822.3(KCNT1):c.3223G>A (p.Val1075Met)
|
rs771889785
|
0.00001
|
NM_020919.4(ALS2):c.329G>T (p.Gly110Val)
|
rs758017229
|
0.00001
|
NM_020928.2(ZSWIM6):c.2281C>T (p.Arg761Trp)
|
rs756935198
|
0.00001
|
NM_020975.6(RET):c.1277G>A (p.Cys426Tyr)
|
rs1387494484
|
0.00001
|
NM_020975.6(RET):c.1352C>T (p.Thr451Met)
|
rs774092678
|
0.00001
|
NM_020975.6(RET):c.2078G>A (p.Arg693His)
|
rs1332256523
|
0.00001
|
NM_020975.6(RET):c.2080C>T (p.Arg694Trp)
|
rs193922700
|
0.00001
|
NM_020975.6(RET):c.2607+5G>A
|
rs143862573
|
0.00001
|
NM_020975.6(RET):c.628G>A (p.Glu210Lys)
|
rs1060500762
|
0.00001
|
NM_020987.5(ANK3):c.4705T>G (p.Ser1569Ala)
|
rs375050420
|
0.00001
|
NM_021008.4(DEAF1):c.1294A>C (p.Thr432Pro)
|
rs1352647775
|
0.00001
|
NM_021120.4(DLG3):c.358-11T>C
|
rs1272977200
|
0.00001
|
NM_021625.5(TRPV4):c.2336+1G>A
|
rs771778984
|
0.00001
|
NM_021830.5(TWNK):c.1429C>T (p.Arg477Cys)
|
rs760427334
|
0.00001
|
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile)
|
rs369588002
|
0.00001
|
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp)
|
rs374997012
|
0.00001
|
NM_021942.6(TRAPPC11):c.2976G>A (p.Met992Ile)
|
rs1363823033
|
0.00001
|
NM_022081.6(HPS4):c.469T>C (p.Phe157Leu)
|
rs753375046
|
0.00001
|
NM_022114.4(PRDM16):c.658G>T (p.Val220Leu)
|
rs746597198
|
0.00001
|
NM_022124.6(CDH23):c.1478G>A (p.Gly493Glu)
|
rs397517308
|
0.00001
|
NM_022124.6(CDH23):c.2975C>T (p.Thr992Met)
|
rs765270590
|
0.00001
|
NM_022124.6(CDH23):c.3038G>A (p.Arg1013Gln)
|
rs767888617
|
0.00001
|
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu)
|
rs771353319
|
0.00001
|
NM_022124.6(CDH23):c.5536G>A (p.Asp1846Asn)
|
rs746323558
|
0.00001
|
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln)
|
rs759439688
|
0.00001
|
NM_022124.6(CDH23):c.7723G>A (p.Glu2575Lys)
|
rs762925264
|
0.00001
|
NM_022124.6(CDH23):c.8005A>G (p.Ile2669Val)
|
rs1841701549
|
0.00001
|
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp)
|
rs397517364
|
0.00001
|
NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn)
|
rs368603948
|
0.00001
|
NM_022132.5(MCCC2):c.116C>T (p.Ser39Phe)
|
rs398124371
|
0.00001
|
NM_022168.4(IFIH1):c.230G>A (p.Arg77Gln)
|
rs367851471
|
0.00001
|
NM_022168.4(IFIH1):c.77T>A (p.Ile26Asn)
|
rs1442046271
|
0.00001
|
NM_022356.4(P3H1):c.148G>A (p.Asp50Asn)
|
rs375176399
|
0.00001
|
NM_022437.3(ABCG8):c.1212-10G>C
|
rs765938367
|
0.00001
|
NM_022437.3(ABCG8):c.787C>T (p.Arg263Trp)
|
rs775957691
|
0.00001
|
NM_022489.4(INF2):c.700C>T (p.Arg234Ter)
|
rs750014286
|
0.00001
|
NM_022725.4(FANCF):c.436C>G (p.Leu146Val)
|
rs779428484
|
0.00001
|
NM_022725.4(FANCF):c.904G>A (p.Val302Met)
|
rs1196670435
|
0.00001
|
NM_022726.4(ELOVL4):c.370A>G (p.Ile124Val)
|
rs192103032
|
0.00001
|
NM_022770.4(GINS3):c.242G>A (p.Arg81Gln)
|
rs765540461
|
0.00001
|
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp)
|
rs781608303
|
0.00001
|
NM_023110.3(FGFR1):c.178G>A (p.Asp60Asn)
|
rs1586379709
|
0.00001
|
NM_024105.4(ALG12):c.1048G>A (p.Gly350Arg)
|
rs377095724
|
0.00001
|
NM_024120.5(NDUFAF5):c.285T>A (p.Asp95Glu)
|
rs781759926
|
0.00001
|
NM_024301.5(FKRP):c.970G>C (p.Glu324Gln)
|
rs886044183
|
0.00001
|
NM_024306.5(FA2H):c.649G>A (p.Gly217Arg)
|
rs775750642
|
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.965C>T (p.Ser322Leu)
|
rs373010581
|
0.00001
|
NM_024312.5(GNPTAB):c.1363G>T (p.Ala455Ser)
|
rs137853822
|
0.00001
|
NM_024312.5(GNPTAB):c.3314A>G (p.Tyr1105Cys)
|
rs775751653
|
0.00001
|
NM_024312.5(GNPTAB):c.3694-1G>A
|
rs1297022622
|
0.00001
|
NM_024312.5(GNPTAB):c.961A>G (p.Ser321Gly)
|
rs137853824
|
0.00001
|
NM_024334.3(TMEM43):c.1000+2T>C
|
rs748618994
|
0.00001
|
NM_024334.3(TMEM43):c.646G>A (p.Val216Met)
|
rs143735210
|
0.00001
|
NM_024407.5(NDUFS7):c.343C>T (p.Arg115Cys)
|
rs11551664
|
0.00001
|
NM_024407.5(NDUFS7):c.47G>A (p.Gly16Asp)
|
rs552179138
|
0.00001
|
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr)
|
rs999869714
|
0.00001
|
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn)
|
rs780446276
|
0.00001
|
NM_024422.6(DSC2):c.327A>G (p.Ile109Met)
|
rs373305929
|
0.00001
|
NM_024422.6(DSC2):c.425G>C (p.Cys142Ser)
|
rs1478081073
|
0.00001
|
NM_024496.4(IRF2BPL):c.631C>G (p.Leu211Val)
|
rs1480750400
|
0.00001
|
NM_024529.5(CDC73):c.841C>T (p.Arg281Cys)
|
rs754070093
|
0.00001
|
NM_024537.4(CARS2):c.1591C>T (p.Arg531Trp)
|
rs566143026
|
0.00001
|
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)
|
rs537759361
|
0.00001
|
NM_024649.5(BBS1):c.1121C>G (p.Thr374Ser)
|
rs759275651
|
0.00001
|
NM_024649.5(BBS1):c.890G>A (p.Arg297Gln)
|
rs372092113
|
0.00001
|
NM_024649.5(BBS1):c.952-20C>T
|
rs1189838889
|
0.00001
|
NM_024675.4(PALB2):c.1006A>C (p.Asn336His)
|
rs1060502774
|
0.00001
|
NM_024675.4(PALB2):c.1066A>G (p.Lys356Glu)
|
rs1202130508
|
0.00001
|
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile)
|
rs373298267
|
0.00001
|
NM_024675.4(PALB2):c.1178A>G (p.Lys393Arg)
|
rs765898856
|
0.00001
|
NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg)
|
rs768482110
|
0.00001
|
NM_024675.4(PALB2):c.1408A>G (p.Thr470Ala)
|
rs150636811
|
0.00001
|
NM_024675.4(PALB2):c.1468C>G (p.Pro490Ala)
|
rs878855101
|
0.00001
|
NM_024675.4(PALB2):c.1526G>A (p.Gly509Asp)
|
rs786203176
|
0.00001
|
NM_024675.4(PALB2):c.161A>G (p.Glu54Gly)
|
rs730881898
|
0.00001
|
NM_024675.4(PALB2):c.1659C>G (p.His553Gln)
|
rs370318597
|
0.00001
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
rs144617793
|
0.00001
|
NM_024675.4(PALB2):c.1886C>T (p.Ser629Phe)
|
rs1169756751
|
0.00001
|
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)
|
rs62625277
|
0.00001
|
NM_024675.4(PALB2):c.2129C>T (p.Thr710Met)
|
rs759024828
|
0.00001
|
NM_024675.4(PALB2):c.2204C>T (p.Pro735Leu)
|
rs199743500
|
0.00001
|
NM_024675.4(PALB2):c.2311A>G (p.Ser771Gly)
|
rs786202846
|
0.00001
|
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser)
|
rs786203296
|
0.00001
|
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr)
|
rs786203608
|
0.00001
|
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu)
|
rs774502617
|
0.00001
|
NM_024675.4(PALB2):c.2514+3dup
|
rs587781602
|
0.00001
|
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)
|
rs587782387
|
0.00001
|
NM_024675.4(PALB2):c.2624T>C (p.Met875Thr)
|
rs878855110
|
0.00001
|
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr)
|
rs878855111
|
0.00001
|
NM_024675.4(PALB2):c.2732C>A (p.Thr911Asn)
|
rs180177123
|
0.00001
|
NM_024675.4(PALB2):c.2788A>T (p.Asn930Tyr)
|
rs1227325413
|
0.00001
|
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg)
|
rs773831304
|
0.00001
|
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln)
|
rs515726103
|
0.00001
|
NM_024675.4(PALB2):c.2896A>G (p.Ile966Val)
|
rs786204248
|
0.00001
|
NM_024675.4(PALB2):c.2971G>T (p.Val991Phe)
|
rs765175665
|
0.00001
|
NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile)
|
rs367840862
|
0.00001
|
NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg)
|
rs143808171
|
0.00001
|
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr)
|
rs746872839
|
0.00001
|
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu)
|
rs756906403
|
0.00001
|
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)
|
rs377713277
|
0.00001
|
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)
|
rs515726108
|
0.00001
|
NM_024675.4(PALB2):c.3232T>A (p.Cys1078Ser)
|
rs876659587
|
0.00001
|
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala)
|
rs864622193
|
0.00001
|
NM_024675.4(PALB2):c.3449T>G (p.Leu1150Arg)
|
rs45566737
|
0.00001
|
NM_024675.4(PALB2):c.3476G>T (p.Trp1159Leu)
|
rs587782050
|
0.00001
|
NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val)
|
rs863224788
|
0.00001
|
NM_024675.4(PALB2):c.3539T>C (p.Ile1180Thr)
|
rs180177139
|
0.00001
|
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)
|
rs370404126
|
0.00001
|
NM_024675.4(PALB2):c.48+10G>C
|
rs1311681895
|
0.00001
|
NM_024675.4(PALB2):c.704C>A (p.Thr235Lys)
|
rs1385914265
|
0.00001
|
NM_024675.4(PALB2):c.764A>G (p.Asp255Gly)
|
rs776753788
|
0.00001
|
NM_024675.4(PALB2):c.769G>A (p.Gly257Ser)
|
rs587780824
|
0.00001
|
NM_024675.4(PALB2):c.813T>A (p.Ser271Arg)
|
rs786203246
|
0.00001
|
NM_024675.4(PALB2):c.856C>T (p.Pro286Ser)
|
rs45585833
|
0.00001
|
NM_024675.4(PALB2):c.878G>A (p.Gly293Asp)
|
rs876660398
|
0.00001
|
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly)
|
rs45561331
|
0.00001
|
NM_024675.4(PALB2):c.932A>G (p.Lys311Arg)
|
rs755129205
|
0.00001
|
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe)
|
rs767638924
|
0.00001
|
NM_024685.4(BBS10):c.986C>T (p.Ser329Leu)
|
rs1000990130
|
0.00001
|
NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg)
|
rs757416132
|
0.00001
|
NM_025000.4(DCAF17):c.508C>G (p.Gln170Glu)
|
rs1694851443
|
0.00001
|
NM_025074.7(FRAS1):c.4011G>A (p.Met1337Ile)
|
rs1175649987
|
0.00001
|
NM_025074.7(FRAS1):c.5455A>G (p.Asn1819Asp)
|
rs753627771
|
0.00001
|
NM_025074.7(FRAS1):c.8131T>C (p.Tyr2711His)
|
rs541053205
|
0.00001
|
NM_025077.4(TOE1):c.-38G>C
|
rs774530388
|
0.00001
|
NM_025077.4(TOE1):c.6C>T (p.Ala2=)
|
rs876659248
|
0.00001
|
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu)
|
rs747463477
|
0.00001
|
NM_025114.4(CEP290):c.1465C>A (p.Leu489Ile)
|
rs1231028240
|
0.00001
|
NM_025114.4(CEP290):c.2608A>C (p.Met870Leu)
|
rs2038321332
|
0.00001
|
NM_025114.4(CEP290):c.5573C>G (p.Thr1858Ser)
|
rs761261059
|
0.00001
|
NM_025114.4(CEP290):c.5709+5G>A
|
rs2035845308
|
0.00001
|
NM_025114.4(CEP290):c.770A>G (p.Tyr257Cys)
|
rs367772168
|
0.00001
|
NM_025137.4(SPG11):c.1255A>G (p.Ser419Gly)
|
rs747719668
|
0.00001
|
NM_025137.4(SPG11):c.3291+3A>G
|
rs773192977
|
0.00001
|
NM_025215.6(PUS1):c.973G>A (p.Val325Met)
|
rs1156671661
|
0.00001
|
NM_025216.3(WNT10A):c.1079G>T (p.Arg360Leu)
|
rs893127185
|
0.00001
|
NM_025216.3(WNT10A):c.661G>A (p.Gly221Arg)
|
rs775380022
|
0.00001
|
NM_025265.4(TSEN2):c.1369C>T (p.Arg457Ter)
|
rs139032110
|
0.00001
|
NM_030662.4(MAP2K2):c.1019C>T (p.Pro340Leu)
|
rs1277686711
|
0.00001
|
NM_030662.4(MAP2K2):c.1036G>A (p.Val346Ile)
|
rs1015139062
|
0.00001
|
NM_030662.4(MAP2K2):c.1092A>C (p.Thr364=)
|
rs779378237
|
0.00001
|
NM_030662.4(MAP2K2):c.1177G>A (p.Gly393Ser)
|
rs755887476
|
0.00001
|
NM_030662.4(MAP2K2):c.1195G>A (p.Ala399Thr)
|
rs1382101858
|
0.00001
|
NM_030662.4(MAP2K2):c.26T>C (p.Leu9Pro)
|
rs758307267
|
0.00001
|
NM_030662.4(MAP2K2):c.451-9G>A
|
rs765412949
|
0.00001
|
NM_030662.4(MAP2K2):c.528+17C>G
|
rs772831774
|
0.00001
|
NM_030662.4(MAP2K2):c.531T>C (p.Val177=)
|
rs528169616
|
0.00001
|
NM_030662.4(MAP2K2):c.987A>G (p.Pro329=)
|
rs1173273857
|
0.00001
|
NM_030777.4(SLC2A10):c.1187C>T (p.Pro396Leu)
|
rs755654519
|
0.00001
|
NM_030777.4(SLC2A10):c.598C>T (p.Pro200Ser)
|
rs764618846
|
0.00001
|
NM_030954.4(RNF170):c.640A>G (p.Ile214Val)
|
rs587780441
|
0.00001
|
NM_030973.4(MED25):c.1210G>A (p.Gly404Arg)
|
rs1213960931
|
0.00001
|
NM_031206.7(LAS1L):c.7T>C (p.Trp3Arg)
|
rs754948682
|
0.00001
|
NM_031448.6(C19orf12):c.83C>T (p.Ser28Phe)
|
rs1204865094
|
0.00001
|
NM_031471.6(FERMT3):c.1741G>A (p.Val581Met)
|
rs767660746
|
0.00001
|
NM_031885.5(BBS2):c.345+5G>A
|
rs1430976492
|
0.00001
|
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)
|
rs755796609
|
0.00001
|
NM_032043.3(BRIP1):c.103G>A (p.Gly35Arg)
|
rs373104267
|
0.00001
|
NM_032043.3(BRIP1):c.1054T>C (p.Tyr352His)
|
rs730881632
|
0.00001
|
NM_032043.3(BRIP1):c.1114C>T (p.Leu372Phe)
|
rs786202637
|
0.00001
|
NM_032043.3(BRIP1):c.1216G>T (p.Ala406Ser)
|
rs1060501747
|
0.00001
|
NM_032043.3(BRIP1):c.1467T>G (p.Ile489Met)
|
rs587780230
|
0.00001
|
NM_032043.3(BRIP1):c.1532A>G (p.Glu511Gly)
|
rs1555603565
|
0.00001
|
NM_032043.3(BRIP1):c.1594A>G (p.Met532Val)
|
rs876658383
|
0.00001
|
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met)
|
rs587782254
|
0.00001
|
NM_032043.3(BRIP1):c.1742G>A (p.Arg581Gln)
|
rs587778133
|
0.00001
|
NM_032043.3(BRIP1):c.1936-7A>T
|
rs1427111542
|
0.00001
|
NM_032043.3(BRIP1):c.1984G>A (p.Ala662Thr)
|
rs571340013
|
0.00001
|
NM_032043.3(BRIP1):c.2056A>G (p.Thr686Ala)
|
rs769820537
|
0.00001
|
NM_032043.3(BRIP1):c.2167G>A (p.Val723Ile)
|
rs145616741
|
0.00001
|
NM_032043.3(BRIP1):c.2284C>T (p.Arg762Cys)
|
rs587778136
|
0.00001
|
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val)
|
rs142806416
|
0.00001
|
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)
|
rs730881622
|
0.00001
|
NM_032043.3(BRIP1):c.2393G>A (p.Arg798Gln)
|
rs375082407
|
0.00001
|
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu)
|
rs587781830
|
0.00001
|
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln)
|
rs781609846
|
0.00001
|
NM_032043.3(BRIP1):c.2623G>C (p.Glu875Gln)
|
rs876659099
|
0.00001
|
NM_032043.3(BRIP1):c.2705T>C (p.Ile902Thr)
|
rs1060501781
|
0.00001
|
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser)
|
rs778916092
|
0.00001
|
NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr)
|
rs786201632
|
0.00001
|
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)
|
rs747907706
|
0.00001
|
NM_032043.3(BRIP1):c.3083A>T (p.Asn1028Ile)
|
rs1060501762
|
0.00001
|
NM_032043.3(BRIP1):c.3215C>T (p.Thr1072Ile)
|
rs786204068
|
0.00001
|
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr)
|
rs150813402
|
0.00001
|
NM_032043.3(BRIP1):c.3274C>T (p.Pro1092Ser)
|
rs768065626
|
0.00001
|
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)
|
rs587780830
|
0.00001
|
NM_032043.3(BRIP1):c.3460A>G (p.Arg1154Gly)
|
rs769359514
|
0.00001
|
NM_032119.4(ADGRV1):c.12032G>T (p.Gly4011Val)
|
rs369044000
|
0.00001
|
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His)
|
rs757860505
|
0.00001
|
NM_032119.4(ADGRV1):c.3338C>A (p.Ala1113Asp)
|
rs750334086
|
0.00001
|
NM_032119.4(ADGRV1):c.8963C>T (p.Pro2988Leu)
|
rs1172291379
|
0.00001
|
NM_032119.4(ADGRV1):c.929G>A (p.Gly310Glu)
|
rs766790920
|
0.00001
|
NM_032119.4(ADGRV1):c.940G>A (p.Ala314Thr)
|
rs533540279
|
0.00001
|
NM_032316.3(NICN1):c.*2325C>T
|
rs753743263
|
0.00001
|
NM_032578.4(MYPN):c.3017T>G (p.Ile1006Ser)
|
rs864622711
|
0.00001
|
NM_033028.5(BBS4):c.706T>C (p.Tyr236His)
|
rs746172575
|
0.00001
|
NM_033087.4(ALG2):c.85G>C (p.Ala29Pro)
|
rs202053471
|
0.00001
|
NM_033360.4(KRAS):c.*4+1G>A
|
rs780979221
|
0.00001
|
NM_033360.4(KRAS):c.491G>A (p.Arg164Gln)
|
rs758575947
|
0.00001
|
NM_033380.3(COL4A5):c.3899G>C (p.Gly1300Ala)
|
rs1252928330
|
0.00001
|
NM_033629.6(TREX1):c.308A>T (p.Asn103Ile)
|
rs770158462
|
0.00001
|
NM_033629.6(TREX1):c.590C>T (p.Ala197Val)
|
rs201954133
|
0.00001
|
NM_033629.6(TREX1):c.95C>T (p.Thr32Met)
|
rs755138065
|
0.00001
|
NM_033641.4(COL4A6):c.4243G>A (p.Gly1415Ser)
|
rs750744219
|
0.00001
|
NM_053025.4(MYLK):c.1315G>A (p.Gly439Arg)
|
rs190877071
|
0.00001
|
NM_053025.4(MYLK):c.1472A>G (p.Asn491Ser)
|
rs149802186
|
0.00001
|
NM_053025.4(MYLK):c.1690G>A (p.Gly564Ser)
|
rs1275836800
|
0.00001
|
NM_053025.4(MYLK):c.250G>A (p.Gly84Ser)
|
rs568619953
|
0.00001
|
NM_053025.4(MYLK):c.2899G>A (p.Val967Met)
|
rs201711566
|
0.00001
|
NM_053025.4(MYLK):c.3203A>G (p.Lys1068Arg)
|
rs148033472
|
0.00001
|
NM_053025.4(MYLK):c.3985+3G>A
|
rs2059656037
|
0.00001
|
NM_053025.4(MYLK):c.5620G>A (p.Gly1874Arg)
|
rs532767014
|
0.00001
|
NM_054012.4(ASS1):c.-5-10C>G
|
rs375136377
|
0.00001
|
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu)
|
rs1554725724
|
0.00001
|
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp)
|
rs1043964127
|
0.00001
|
NM_058216.3(RAD51C):c.1027-3C>T
|
rs587782459
|
0.00001
|
NM_058216.3(RAD51C):c.1096C>T (p.Arg366Trp)
|
rs587782449
|
0.00001
|
NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln)
|
rs373170458
|
0.00001
|
NM_058216.3(RAD51C):c.121G>A (p.Val41Met)
|
rs879254131
|
0.00001
|
NM_058216.3(RAD51C):c.128C>T (p.Pro43Leu)
|
rs766958594
|
0.00001
|
NM_058216.3(RAD51C):c.252G>T (p.Lys84Asn)
|
rs786202890
|
0.00001
|
NM_058216.3(RAD51C):c.28A>T (p.Met10Leu)
|
rs1452865935
|
0.00001
|
NM_058216.3(RAD51C):c.370T>A (p.Cys124Ser)
|
rs1273995533
|
0.00001
|
NM_058216.3(RAD51C):c.406A>T (p.Met136Leu)
|
rs587780254
|
0.00001
|
NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr)
|
rs587780838
|
0.00001
|
NM_058216.3(RAD51C):c.571+4A>G
|
rs587780257
|
0.00001
|
NM_058216.3(RAD51C):c.710G>A (p.Arg237Gln)
|
rs370393672
|
0.00001
|
NM_058216.3(RAD51C):c.779G>A (p.Arg260Gln)
|
rs730881926
|
0.00001
|
NM_058216.3(RAD51C):c.892G>C (p.Val298Leu)
|
rs1555602145
|
0.00001
|
NM_078470.6(COX15):c.430T>C (p.Phe144Leu)
|
rs767594997
|
0.00001
|
NM_080473.5(GATA5):c.1175G>A (p.Cys392Tyr)
|
rs782345116
|
0.00001
|
NM_080632.3(UPF3B):c.76G>A (p.Gly26Ser)
|
rs1050045607
|
0.00001
|
NM_130837.3(OPA1):c.2228C>T (p.Pro743Leu)
|
rs746579947
|
0.00001
|
NM_130837.3(OPA1):c.302G>A (p.Arg101His)
|
rs201856560
|
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_138395.4(MARS2):c.424C>T (p.Arg142Trp)
|
rs794726870
|
0.00001
|
NM_138422.4(ADAT3):c.806C>T (p.Pro269Leu)
|
rs748493151
|
0.00001
|
NM_138477.4(CDAN1):c.1867C>T (p.Arg623Trp)
|
rs141007889
|
0.00001
|
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)
|
rs777377414
|
0.00001
|
NM_138694.4(PKHD1):c.10132T>G (p.Trp3378Gly)
|
rs1784939891
|
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.6046A>T (p.Ser2016Cys)
|
rs1413693039
|
0.00001
|
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)
|
rs749454235
|
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_138927.4(SON):c.3300C>G (p.Asp1100Glu)
|
rs1160761975
|
0.00001
|
NM_139058.3(ARX):c.187G>A (p.Ala63Thr)
|
rs769996976
|
0.00001
|
NM_139076.3(ABRAXAS1):c.1102_1104del (p.Lys368del)
|
rs878855206
|
0.00001
|
NM_139076.3(ABRAXAS1):c.1152A>C (p.Lys384Asn)
|
rs763567031
|
0.00001
|
NM_139076.3(ABRAXAS1):c.233G>A (p.Gly78Asp)
|
rs587780265
|
0.00001
|
NM_139076.3(ABRAXAS1):c.311G>A (p.Arg104His)
|
rs542570943
|
0.00001
|
NM_139076.3(ABRAXAS1):c.473A>T (p.Lys158Ile)
|
rs1445851548
|
0.00001
|
NM_139076.3(ABRAXAS1):c.601A>C (p.Lys201Gln)
|
rs901660662
|
0.00001
|
NM_139076.3(ABRAXAS1):c.658G>A (p.Ala220Thr)
|
rs748861737
|
0.00001
|
NM_139076.3(ABRAXAS1):c.796+1G>A
|
rs1262378912
|
0.00001
|
NM_139076.3(ABRAXAS1):c.912A>T (p.Arg304Ser)
|
rs778300694
|
0.00001
|
NM_139242.4(MTFMT):c.434T>G (p.Val145Gly)
|
rs1064793194
|
0.00001
|
NM_139276.3(STAT3):c.1919A>T (p.Tyr640Phe)
|
rs769031989
|
0.00001
|
NM_139276.3(STAT3):c.1981G>T (p.Asp661Tyr)
|
rs747639500
|
0.00001
|
NM_139276.3(STAT3):c.368C>T (p.Ala123Val)
|
rs1475754644
|
0.00001
|
NM_139276.3(STAT3):c.372+10G>C
|
rs766222549
|
0.00001
|
NM_144573.4(NEXN):c.1805C>T (p.Thr602Met)
|
rs756709134
|
0.00001
|
NM_144573.4(NEXN):c.1981G>A (p.Gly661Arg)
|
rs876657929
|
0.00001
|
NM_144596.4(TTC8):c.452T>A (p.Ile151Asn)
|
rs774233751
|
0.00001
|
NM_144670.6(A2ML1):c.1231A>C (p.Thr411Pro)
|
rs371576976
|
0.00001
|
NM_144670.6(A2ML1):c.1248+7A>G
|
rs765019682
|
0.00001
|
NM_144670.6(A2ML1):c.1370G>A (p.Arg457Gln)
|
rs765417831
|
0.00001
|
NM_144670.6(A2ML1):c.1683+6A>G
|
rs370846070
|
0.00001
|
NM_144670.6(A2ML1):c.1991C>T (p.Ser664Leu)
|
rs187676229
|
0.00001
|
NM_144670.6(A2ML1):c.2238C>G (p.Asn746Lys)
|
rs369633399
|
0.00001
|
NM_144670.6(A2ML1):c.2429C>A (p.Ala810Asp)
|
rs778855832
|
0.00001
|
NM_144670.6(A2ML1):c.2458A>T (p.Ile820Phe)
|
rs1435627448
|
0.00001
|
NM_144670.6(A2ML1):c.2681G>A (p.Ser894Asn)
|
rs754026014
|
0.00001
|
NM_144670.6(A2ML1):c.2712+12T>A
|
rs774960083
|
0.00001
|
NM_144670.6(A2ML1):c.3495C>G (p.Ile1165Met)
|
rs868320081
|
0.00001
|
NM_144670.6(A2ML1):c.3502+14G>C
|
rs1277207408
|
0.00001
|
NM_144670.6(A2ML1):c.4221+17C>T
|
rs772852256
|
0.00001
|
NM_144670.6(A2ML1):c.4221+2T>C
|
rs959378735
|
0.00001
|
NM_144670.6(A2ML1):c.540T>G (p.Ile180Met)
|
rs377551636
|
0.00001
|
NM_144670.6(A2ML1):c.62C>T (p.Pro21Leu)
|
rs771087097
|
0.00001
|
NM_144670.6(A2ML1):c.844C>A (p.Leu282Ile)
|
rs1482427203
|
0.00001
|
NM_144670.6(A2ML1):c.970+13C>T
|
rs748203389
|
0.00001
|
NM_144997.7(FLCN):c.1390G>A (p.Glu464Lys)
|
rs1471793185
|
0.00001
|
NM_145239.3(PRRT2):c.490G>A (p.Glu164Lys)
|
rs752707110
|
0.00001
|
NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp)
|
rs387907128
|
0.00001
|
NM_152296.5(ATP1A3):c.274A>G (p.Ile92Val)
|
rs933392084
|
0.00001
|
NM_152305.3(POGLUT1):c.466T>A (p.Tyr156Asn)
|
rs751780827
|
0.00001
|
NM_152328.5(ADSS1):c.502G>A (p.Gly168Arg)
|
rs1290246650
|
0.00001
|
NM_152384.3(BBS5):c.900G>C (p.Val300=)
|
rs757001492
|
0.00001
|
NM_152594.3(SPRED1):c.170A>G (p.Asp57Gly)
|
rs959758606
|
0.00001
|
NM_152594.3(SPRED1):c.353G>A (p.Arg118Lys)
|
rs373381933
|
0.00001
|
NM_152906.7(TANGO2):c.711-11C>G
|
rs201850506
|
0.00001
|
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp)
|
rs754476100
|
0.00001
|
NM_153240.5(NPHP3):c.1190G>A (p.Arg397His)
|
rs755094682
|
0.00001
|
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln)
|
rs138630766
|
0.00001
|
NM_153252.5(BRWD3):c.4255T>G (p.Leu1419Val)
|
rs863224851
|
0.00001
|
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp)
|
rs397517874
|
0.00001
|
NM_153700.2(STRC):c.4792C>G (p.Leu1598Val)
|
rs753942597
|
0.00001
|
NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln)
|
rs750950408
|
0.00001
|
NM_153704.6(TMEM67):c.638G>A (p.Arg213His)
|
rs770605718
|
0.00001
|
NM_153717.3(EVC):c.1955G>A (p.Arg652His)
|
rs765024763
|
0.00001
|
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe)
|
rs370825749
|
0.00001
|
NM_153717.3(EVC):c.928C>G (p.Leu310Val)
|
rs145300726
|
0.00001
|
NM_170606.3(KMT2C):c.10239C>G (p.Ile3413Met)
|
rs1422436901
|
0.00001
|
NM_170606.3(KMT2C):c.14101C>T (p.Leu4701Phe)
|
rs772587003
|
0.00001
|
NM_170606.3(KMT2C):c.5851G>A (p.Asp1951Asn)
|
rs781220804
|
0.00001
|
NM_170606.3(KMT2C):c.6115G>C (p.Gly2039Arg)
|
rs376573154
|
0.00001
|
NM_170606.3(KMT2C):c.709A>G (p.Ile237Val)
|
rs587778510
|
0.00001
|
NM_170606.3(KMT2C):c.9041G>T (p.Gly3014Val)
|
rs2093213467
|
0.00001
|
NM_170707.4(LMNA):c.*722T>C
|
rs921268252
|
0.00001
|
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)
|
rs267607564
|
0.00001
|
NM_170707.4(LMNA):c.1870C>T (p.Arg624Cys)
|
rs140455668
|
0.00001
|
NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys)
|
rs987157491
|
0.00001
|
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp)
|
rs28937875
|
0.00001
|
NM_170784.3(MKKS):c.320A>G (p.Gln107Arg)
|
rs768772248
|
0.00001
|
NM_172107.4(KCNQ2):c.1394G>A (p.Arg465Gln)
|
rs1459078042
|
0.00001
|
NM_172107.4(KCNQ2):c.2117C>A (p.Ala706Asp)
|
rs980128101
|
0.00001
|
NM_172107.4(KCNQ2):c.2332G>A (p.Glu778Lys)
|
rs1264858438
|
0.00001
|
NM_173076.3(ABCA12):c.899A>G (p.Tyr300Cys)
|
rs778915456
|
0.00001
|
NM_173477.5(USH1G):c.1093G>A (p.Asp365Asn)
|
rs538983393
|
0.00001
|
NM_173477.5(USH1G):c.1339C>T (p.Arg447Trp)
|
rs773872479
|
0.00001
|
NM_173483.4(CYP4F22):c.1064C>T (p.Pro355Leu)
|
rs760727576
|
0.00001
|
NM_173483.4(CYP4F22):c.314C>T (p.Pro105Leu)
|
rs749972738
|
0.00001
|
NM_173495.3(PTCHD1):c.583G>A (p.Val195Ile)
|
rs769407241
|
0.00001
|
NM_173660.5(DOK7):c.635T>C (p.Leu212Pro)
|
rs553985062
|
0.00001
|
NM_174934.4(SCN4B):c.115A>G (p.Thr39Ala)
|
rs756210130
|
0.00001
|
NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys)
|
rs371030381
|
0.00001
|
NM_174936.4(PCSK9):c.1181G>T (p.Gly394Val)
|
rs376066497
|
0.00001
|
NM_174936.4(PCSK9):c.1192A>G (p.Met398Val)
|
rs766010409
|
0.00001
|
NM_174936.4(PCSK9):c.1475G>C (p.Ser492Thr)
|
rs537114569
|
0.00001
|
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)
|
rs374603772
|
0.00001
|
NM_174936.4(PCSK9):c.643C>T (p.Arg215Cys)
|
rs753505066
|
0.00001
|
NM_174936.4(PCSK9):c.812T>C (p.Ile271Thr)
|
rs753657596
|
0.00001
|
NM_175914.5(HNF4A):c.49+13G>A
|
rs759324522
|
0.00001
|
NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp)
|
rs1032164393
|
0.00001
|
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys)
|
rs1290868034
|
0.00001
|
NM_176824.3(BBS7):c.277T>G (p.Phe93Val)
|
rs750813339
|
0.00001
|
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp)
|
rs761403504
|
0.00001
|
NM_181507.2(HPS5):c.131G>A (p.Arg44Gln)
|
rs760835753
|
0.00001
|
NM_181507.2(HPS5):c.1652G>A (p.Arg551His)
|
rs1037863397
|
0.00001
|
NM_181507.2(HPS5):c.2169A>G (p.Ile723Met)
|
rs780480120
|
0.00001
|
NM_181523.3(PIK3R1):c.506C>T (p.Thr169Ile)
|
rs778443805
|
0.00001
|
NM_182925.5(FLT4):c.3894-1G>A
|
rs1164783220
|
0.00001
|
NM_182931.3(KMT2E):c.1132C>T (p.Pro378Ser)
|
rs200903934
|
0.00001
|
NM_182961.4(SYNE1):c.17332A>G (p.Ile5778Val)
|
rs762422242
|
0.00001
|
NM_182961.4(SYNE1):c.21199C>G (p.Leu7067Val)
|
rs749058571
|
0.00001
|
NM_182961.4(SYNE1):c.6031C>T (p.Arg2011Cys)
|
rs767563434
|
0.00001
|
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser)
|
rs398124576
|
0.00001
|
NM_194248.3(OTOF):c.2521G>A (p.Glu841Lys)
|
rs772729658
|
0.00001
|
NM_198129.4(LAMA3):c.6407C>T (p.Thr2136Ile)
|
rs370749309
|
0.00001
|
NM_198129.4(LAMA3):c.7627T>C (p.Tyr2543His)
|
rs778189535
|
0.00001
|
NM_198252.3(GSN):c.601_602insT (p.Arg201fs)
|
rs1277006645
|
0.00001
|
NM_198576.4(AGRN):c.1978C>T (p.Arg660Trp)
|
rs534519250
|
0.00001
|
NM_198904.4(GABRG2):c.631+1251G>T
|
rs1047885227
|
0.00001
|
NM_199242.3(UNC13D):c.2672T>C (p.Leu891Pro)
|
rs1359661881
|
0.00001
|
NM_199242.3(UNC13D):c.2756C>T (p.Ser919Phe)
|
rs748410297
|
0.00001
|
NM_199242.3(UNC13D):c.869C>T (p.Ser290Leu)
|
rs202020396
|
0.00001
|
NM_201253.3(CRB1):c.1349G>A (p.Cys450Tyr)
|
rs746597173
|
0.00001
|
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys)
|
rs137853136
|
0.00001
|
NM_203447.4(DOCK8):c.1823C>G (p.Pro608Arg)
|
rs189953367
|
0.00001
|
NM_203447.4(DOCK8):c.2675G>A (p.Ser892Asn)
|
rs1340101824
|
0.00001
|
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe)
|
rs770756678
|
0.00001
|
NM_206933.4(USH2A):c.10597T>C (p.Tyr3533His)
|
rs1288596700
|
0.00001
|
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)
|
rs1172628170
|
0.00001
|
NM_206933.4(USH2A):c.13279G>A (p.Gly4427Arg)
|
rs1255592098
|
0.00001
|
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala)
|
rs774759345
|
0.00001
|
NM_206933.4(USH2A):c.13664C>T (p.Pro4555Leu)
|
rs772415448
|
0.00001
|
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His)
|
rs1040917329
|
0.00001
|
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn)
|
rs374144657
|
0.00001
|
NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val)
|
rs748393788
|
0.00001
|
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)
|
rs147509797
|
0.00001
|
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile)
|
rs377254440
|
0.00001
|
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys)
|
rs749621457
|
0.00001
|
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg)
|
rs1064793287
|
0.00001
|
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser)
|
rs145459379
|
0.00001
|
NM_206933.4(USH2A):c.4314G>T (p.Arg1438Ser)
|
rs776039417
|
0.00001
|
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met)
|
rs373599651
|
0.00001
|
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu)
|
rs527598451
|
0.00001
|
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn)
|
rs759545289
|
0.00001
|
NM_206933.4(USH2A):c.6925T>G (p.Cys2309Gly)
|
rs772407116
|
0.00001
|
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile)
|
rs200382994
|
0.00001
|
NM_206933.4(USH2A):c.9655A>G (p.Thr3219Ala)
|
rs776395355
|
0.00001
|
NM_206933.4(USH2A):c.9974G>A (p.Gly3325Glu)
|
rs1378786390
|
0.00001
|
NM_207346.3(TSEN54):c.197T>C (p.Leu66Pro)
|
rs1388222262
|
0.00001
|
NM_207361.6(FREM2):c.4221T>A (p.Asp1407Glu)
|
rs1192686260
|
0.00001
|
NM_207361.6(FREM2):c.467G>T (p.Arg156Leu)
|
rs759269194
|
0.00001
|
NM_207361.6(FREM2):c.6445A>G (p.Met2149Val)
|
rs142821775
|
0.00001
|
NM_213599.3(ANO5):c.1203G>T (p.Trp401Cys)
|
rs886042339
|
0.00001
|
NC_000001.10:g.(120529706_120539619)_(120548212_120572528)dup
|
|
|
NC_000001.10:g.(1455998_1458123)_(1458280_1458890)del
|
|
|
NC_000001.10:g.(161277215_161279628)_(161279763_?)dup
|
|
|
NC_000001.10:g.(161298288_161310383)_(161334542_?)dup
|
|
|
NC_000001.10:g.(183529409_183532329)_(183559740_?)dup
|
|
|
NC_000001.10:g.(193181608_193202122)_(193223946_?)del
|
|
|
NC_000001.10:g.(215916678_215931936)_(215940131_215953184)dup
|
|
|
NC_000001.10:g.(226036256_226036597)_(226050552_226053596)del
|
|
|
NC_000001.10:g.(228432273_228433113)_(228433390_228434228)del
|
|
|
NC_000001.10:g.(235856787_235860382)_(236030207_?)dup
|
|
|
NC_000001.10:g.(31406190_31409489)_(31418331_31422973)dup
|
|
|
NC_000001.10:g.(39889867_39893126)_(39952811_?)dup
|
|
|
NC_000001.10:g.(7309687_7527889)_(7527962_7700459)dup
|
|
|
NC_000001.10:g.(97548027_97564044)_(97564189_97658624)del
|
|
|
NC_000001.10:g.(97848018_97915614)_(97981498_98015115)dup
|
|
|
NC_000001.10:g.(?_115215718)_(115220663_115220953)del
|
|
|
NC_000001.10:g.(?_1716723)_(1749315_1756835)dup
|
|
|
NC_000001.10:g.(?_220087605)_(220101994_?)dup
|
|
|
NC_000001.10:g.(?_46654354)_(46660074_46660224)dup
|
|
|
NC_000002.11:g.(178545632_178562059)_(178576607_178592385)dup
|
|
|
NC_000002.11:g.(228193506_228194321)_(228205097_228207460)dup
|
|
|
NC_000002.11:g.(47607109_47612304)_(47614168_?)dup
|
|
|
NC_000002.11:g.(73682423_73716760)_(73762077_73777393)dup
|
|
|
NC_000002.11:g.(98853194_98866780)_(98872638_98887144)del
|
|
|
NC_000002.11:g.(?_150426150)_(150443664_150444177)dup
|
|
|
NC_000002.11:g.(?_169779448)_(169887834_?)dup
|
|
|
NC_000002.11:g.(?_172290760)_(172341563_?)dup
|
|
|
NC_000002.11:g.(?_241653180)_(241709124_241710387)dup
|
|
|
NC_000002.11:g.(?_44113362)_(44223145_?)dup
|
|
|
NC_000002.11:g.(?_47596321)_(47596721_47600601)del
|
|
|
NC_000002.11:g.(?_47596341)_(47596701_?)dup
|
|
|
NC_000002.11:g.(?_87011727)_(87018838_?)dup
|
|
|
NC_000002.11:g.(?_98703594)_(98779440_98797478)del
|
|
|
NC_000003.11:g.(1427482_1443116)_(1445295_?)dup
|
|
|
NC_000003.11:g.(158384176_158399783)_(158410362_?)dup
|
|
|
NC_000003.11:g.(179137294_179138676)_(179169372_?)dup
|
|
|
NC_000003.11:g.(25761683_25770623)_(25792755_25805556)dup
|
|
|
NC_000003.11:g.(370038_382476)_(436556_439909)dup
|
|
|
NC_000003.11:g.(37089175_37090007)_(37090509_37091976)dup
|
|
|
NC_000003.11:g.(81643175_81691931)_(81754765_81810525)dup
|
|
|
NC_000003.11:g.(?_128445025)_(128533642_?)dup
|
|
|
NC_000003.11:g.(?_142168076)_(142168445_142171969)del
|
|
|
NC_000003.11:g.(?_179113875)_(179169259_?)dup
|
|
|
NC_000003.11:g.(?_4402828)_(4508967_?)dup
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NC_000003.11:g.(?_66119284)_(66429348_?)dup
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NC_000003.11:g.(?_93698982)_(93774523_?)dup
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NC_000004.11:g.(123949551_123977541)_(123977596_123978363)del
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NC_000004.11:g.(151656519_151682934)_(151936650_?)dup
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NC_000004.11:g.(159593643_159601618)_(159620283_159624574)dup
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NC_000004.11:g.(?_120056938)_(120108945_?)dup
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NC_000004.11:g.(?_1795019)_(1795771_1800980)dup
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NC_000005.9:g.(126758465_126769054)_(126769202_126770378)del
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NC_000005.9:g.(126781386_126783248)_(126784915_126790257)del
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NC_000005.9:g.(149633110_149636135)_(149636395_149637125)del
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NC_000005.9:g.(37213835_37221425)_(37249531_?)dup
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NC_000005.9:g.(37231152_37238958)_(37249531_?)dup
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NC_000005.9:g.(42566047_42629139)_(42629206_42688991)del
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NC_000005.9:g.(52954455_52978947)_(52979169_?)dup
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NC_000005.9:g.(60170511_60183266)_(60186914_60194102)dup
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NC_000005.9:g.(77473261_77477330)_(77477487_77511878)dup
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NC_000005.9:g.(89941909_89943314)_(89943582_89947420)del
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NC_000005.9:g.(?_1201709)_(1225227_?)dup
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NC_000005.9:g.(?_1253281)_(1278912_1279405)dup
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NC_000005.9:g.(?_155753766)_(155771688_155935610)dup
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NC_000005.9:g.(?_1801495)_(1816166_?)dup
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NC_000005.9:g.(?_218337)_(257198_?)dup
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NC_000005.9:g.(?_218434)_(257198_?)dup
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NC_000006.11:g.(10813957_10818082)_(10831111_?)dup
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NC_000006.11:g.(135679326_135715913)_(135732683_135748304)del
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NC_000006.11:g.(135726116_135732485)_(135818904_?)dup
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NC_000006.11:g.(51915094_51917873)_(51930876_51934254)dup
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NC_000006.11:g.(5261894_5368782)_(5545574_5613401)dup
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NC_000006.11:g.(65707597_65767506)_(65767621_66005755)dup
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NC_000006.11:g.(66063511_66094278)_(66205887_66349670)dup
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NC_000006.11:g.(66115261_66200486)_(66200601_66204555)dup
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NC_000006.11:g.(?_5108652)_(5261184_?)del
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NC_000006.11:g.(?_70385640)_(70411846_70423536)dup
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NC_000007.13:g.(?_6010555)_(6027252_6029430)dup
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NC_000007.13:g.(?_6010555)_(6048738_?)dup
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NC_000008.10:g.(100287483_100396435)_(100403933_100443764)dup
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NC_000008.10:g.(143957812_143958097)_(143961237_?)dup
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NC_000008.10:g.(48730123_48731962)_(48732072_48733279)del
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NC_000008.10:g.(48736558_48739216)_(48872744_?)dup
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NC_000008.10:g.(68115487_68116914)_(68130374_68131665)del
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NC_000008.10:g.(?_103216728)_(103251347_?)dup
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NC_000008.10:g.(?_143991974)_(143995835_143996120)dup
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NC_000008.10:g.(?_48872762)_(48890721_?)dup
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NC_000008.10:g.(?_74888376)_(74888727_74890990)dup
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NC_000008.10:g.(?_99130067)_(99146888_99148709)dup
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NC_000009.11:g.(133884975_133901671)_(133928353_133932315)del
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NC_000009.11:g.(139327732_139328500)_(139334275_?)dup
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NC_000009.11:g.(215030_271626)_(340322_368017)dup
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NC_000009.11:g.(340322_368017)_(465260_?)dup
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NC_000009.11:g.(36249395_36276890)_(36277054_?)dup
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NC_000009.11:g.(407070_414781)_(465260_?)dup
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NC_000009.11:g.(4985631_4985939)_(5090912_5123003)dup
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NC_000009.11:g.(504755_676889)_(677010_710803)del
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NC_000009.11:g.(5090912_5123003)_(5129949_?)dup
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NC_000009.11:g.(6565430_6587140)_(6645693_?)dup
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NC_000009.11:g.(94060359_94087599)_(94087687_94118164)del
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NC_000009.11:g.(?_117164359)_(117267737_?)dup
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NC_000009.11:g.(?_130697373)_(130700764_?)dup
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NC_000009.11:g.(?_214864)_(399260_404917)dup
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NC_000009.11:g.(?_4490467)_(4587470_?)dup
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NC_000009.12:g.35658023_35658024delinsTT
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rs2131809702
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NC_000010.10:g.(29782321_29783842)_(29784111_29788044)del
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NC_000010.10:g.(50714059_50732078)_(50747170_?)dup
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NC_000010.10:g.(56138703_56287571)_(56287638_56423931)dup
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NC_000010.10:g.(70196999_70202673)_(70231731_?)dup
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NC_000010.10:g.(75585106_75597225)_(75634350_?)dup
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NC_000010.10:g.(97397194_97402748)_(97416568_?)dup
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NC_000010.10:g.(?_124221068)_(124274424_?)dup
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NC_000010.10:g.(?_13685705)_(13696513_13698635)dup
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NC_000010.10:g.(?_50822082)_(50835832_50854550)dup
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NC_000010.10:g.(?_70173820)_(70231731_?)dup
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NC_000010.10:g.(?_88635623)_(88683477_?)dup
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NC_000010.10:g.(?_90973325)_(91011797_?)dup
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NC_000011.9:g.(108114846_108115514)_(108239827_?)dup
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NC_000011.9:g.(108225602_108235808)_(108236198_?)dup
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NC_000011.9:g.(108225602_108235808)_(108239827_?)dup
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NC_000011.9:g.(108225602_108235808)_(108239830_?)dup
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NC_000011.9:g.(117206397_117209281)_(117222705_117232550)dup
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NC_000011.9:g.(128628222_128638012)_(128651919_128675260)dup
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NC_000011.9:g.(34938363_34952950)_(34953032_34969052)dup
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NC_000011.9:g.(63426725_63438761)_(63439203_?)del
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NC_000011.9:g.(68575107_68579904)_(68609400_?)dup
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NC_000011.9:g.(70785658_70803467)_(70858385_70935742)dup
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NC_000011.9:g.(?_107992257)_(108018896_?)dup
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NC_000011.9:g.(?_18300216)_(18307007_18308137)del
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NC_000011.9:g.(?_85339636)_(85347581_?)dup
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NC_000011.9:g.(?_95566043)_(95657272_?)dup
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NC_000012.11:g.(122281739_122284767)_(122287697_122292608)del
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NC_000012.11:g.(122745995_122748118)_(122751042_?)dup
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NC_000012.11:g.(6184718_6204625)_(6233837_?)dup
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NC_000012.11:g.(8998819_9000144)_(9007428_9008104)del
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NC_000012.11:g.(95365397_95387945)_(95397474_?)dup
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NC_000012.11:g.(?_120875892)_(120878546_?)dup
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NC_000012.11:g.(?_120875915)_(120878534_?)dup
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NC_000012.11:g.(?_124105569)_(124118324_?)dup
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NC_000012.11:g.(?_124155659)_(124172725_124175079)dup
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NC_000012.11:g.(?_49688929)_(49691510_49691740)dup
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NC_000013.10:g.(101077986_101101505)_(101101560_101167680)dup
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NC_000013.10:g.(103525694_103527656)_(103528352_?)del
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NC_000013.10:g.(32937671_32944538)_(32973810_?)dup
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NC_000013.10:g.(60385058_60407240)_(60590280_60616823)del
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NC_000013.10:g.(?_20796100)_(20797635_20803718)del
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NC_000013.10:g.(?_23755059)_(23778029_23808749)dup
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NC_000013.10:g.(?_32889616)_(32929426_32930564)dup
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NC_000013.10:g.(?_32889616)_(32973810_?)dup
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NC_000014.8:g.(21794333_21795781)_(21798547_21802763)del
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NC_000014.8:g.(32315798_32319324)_(32319408_32328323)del
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NC_000014.8:g.(68251995_68252574)_(68283307_?)dup
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NC_000014.8:g.(?_102829248)_(102968819_?)dup
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NC_000015.9:g.(23062320_23086233)_(23086437_?)del
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NC_000015.9:g.(28443916_28446601)_(28447761_28451385)dup
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NC_000015.9:g.(32404101_32446107)_(32462385_?)dup
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NC_000015.9:g.(44865019_44865744)_(44867240_44876011)dup
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NC_000015.9:g.(62211649_62212265)_(62352665_?)dup
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NC_000015.9:g.(76518271_76523673)_(76523740_76566752)del
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NC_000015.9:g.(?_100940599)_(101084926_?)dup
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NC_000015.9:g.(?_31196075)_(31229463_31233768)dup
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NC_000015.9:g.(?_41679550)_(41694695_?)del
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NC_000015.9:g.(?_42651697)_(42704516_?)dup
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NC_000016.9:g.(23614991_23619184)_(23625413_23632682)dup
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NC_000016.9:g.(46940888_46943595)_(46965210_?)dup
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NC_000016.9:g.(47703329_47722951)_(47735435_?)dup
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NC_000016.9:g.(68849663_68853182)_(68863701_68867192)dup
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NC_000016.9:g.(89180896_89187208)_(89212458_89220497)dup
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NC_000016.9:g.(89818631_89824984)_(89883066_?)dup
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NC_000016.9:g.(89877480_89880927)_(89883066_?)dup
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NC_000016.9:g.(?_135799)_(143324_148142)dup
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NC_000016.9:g.(?_1560427)_(1576798_1607935)dup
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NC_000016.9:g.(?_23532074)_(23568672_?)dup
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NC_000016.9:g.(?_28853731)_(28857670_?)del
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NC_000016.9:g.(?_30194730)_(30200398_?)dup
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NC_000016.9:g.(?_30759745)_(30772498_?)dup
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NC_000016.9:g.(?_3704691)_(3708097_?)del
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NC_000016.9:g.(?_46723570)_(46732307_?)dup
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NC_000016.9:g.(?_46918273)_(46965202_?)dup
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NC_000016.9:g.(?_70286296)_(70296428_70298860)dup
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NC_000016.9:g.(?_730409)_(732802_?)dup
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NC_000016.9:g.(?_88880141)_(88909238_88923165)dup
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NC_000016.9:g.(?_88880141)_(88923375_?)dup
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NC_000016.9:g.(?_8891669)_(8895768_8898623)dup
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NC_000016.9:g.(?_8891669)_(8898701_8900172)dup
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NC_000016.9:g.(?_8891669)_(8905571_8906847)dup
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NC_000016.9:g.(?_89160216)_(89187322_89199543)dup
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NC_000017.10:g.(15164079_15168470)_(15168675_?)del
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NC_000017.10:g.(1665408_1670196)_(1680869_?)dup
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NC_000017.10:g.(18927697_18939270)_(18950337_?)del
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NC_000017.10:g.(29687722_29701030)_(29704696_?)dup
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NC_000017.10:g.(33426810_33427615)_(33434467_33445519)dup
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NC_000017.10:g.(35567405_35578644)_(35583374_35591889)dup
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NC_000017.10:g.(41199721_41201137)_(41276133_41277287)dup
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NC_000017.10:g.(41199721_41201137)_(41277382_?)dup
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NC_000017.10:g.(41199721_41201137)_(41277501_?)dup
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NC_000017.10:g.(41203135_41209068)_(41276133_41277287)dup
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NC_000017.10:g.(41203135_41209068)_(41277501_?)dup
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NC_000017.10:g.(41258551_41267742)_(41277501_?)dup
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NC_000017.10:g.(41267797_41276033)_(41277382_?)dup
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NC_000017.10:g.(602621_613772)_(618097_?)dup
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NC_000017.10:g.(75398786_75478225)_(75496676_?)dup
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NC_000017.10:g.(?_10293638)_(10298759_10299646)del
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NC_000017.10:g.(?_3379295)_(3402701_?)dup
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NC_000017.10:g.(?_411907)_(440417_455111)dup
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NC_000017.10:g.(?_78075324)_(78093682_?)dup
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NC_000017.10:g.41246248_(41276133_41277287)dup
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NC_000017.10:g.[(59861786_59870957)_(59886119_59924461)dup;(?_59870952)_(59886124_?)dup]
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NC_000017.11:g.(?_43044294)_(43124116_43125270)dup
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NC_000018.9:g.(44181431_44184068)_(44198254_44219578)dup
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NC_000018.9:g.(67742778_67753848)_(67753921_67755224)del
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NC_000018.9:g.(?_25530926)_(25532324_25543320)dup
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NC_000019.9:g.(44015719_44030352)_(44031409_?)dup
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NC_000019.9:g.(50204113_50204573)_(50204892_50207966)del
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NC_000019.9:g.(?_17448325)_(17450409_17451852)dup
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NC_000019.9:g.(?_17448325)_(17452132_17452286)dup
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NC_000019.9:g.(?_17448361)_(17450409_17451852)dup
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NC_000019.9:g.(?_7112275)_(7123001_7125293)dup
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NC_000020.10:g.(?_3190005)_(3204517_?)dup
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NC_000020.10:g.(?_3869569)_(3893282_3897573)dup
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NC_000021.8:g.(?_46825079)_(46933635_?)dup
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NC_000021.8:g.(?_46932478)_(46962355_?)dup
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NC_000022.10:g.(29083975_29085122)_(29085204_29090019)del
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NC_000022.10:g.(29083975_29085122)_(29085204_29090019)dup
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NC_000022.10:g.(38122511_38129304)_(38168772_38169789)dup
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NC_000022.10:g.(50500087_50502462)_(50524359_?)dup
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NC_000022.10:g.(?_18074901)_(18111589_?)del
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NC_000022.10:g.(?_29083730)_(29085204_29090019)dup
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NC_000022.10:g.(?_29083730)_(29121356_29130390)dup
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NC_000022.10:g.(?_36677322)_(36712715_36714251)dup
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NC_000022.10:g.(?_36677325)_(36714371_36715584)dup
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NC_000022.10:g.(?_36863092)_(36877688_?)dup
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|
|
NC_000023.10:g.(100656798_100658798)_(100658974_100662697)dup
|
|
|
NC_000023.10:g.(154754294_154774756)_(154774939_154842452)del
|
|
|
NC_000023.10:g.(31144791_31152218)_(31152312_31164407)dup
|
|
|
NC_000023.10:g.(31165636_31187559)_(31187719_31190464)dup
|
|
|
NC_000023.10:g.(31165636_31187559)_(31196088_31196785)dup
|
|
|
NC_000023.10:g.(31191722_31196048)_(31196088_31196785)del
|
|
|
NC_000023.10:g.(31191722_31196048)_(31196088_31196785)dup
|
|
|
NC_000023.10:g.(31201022_31222077)_(31222236_31224698)dup
|
|
|
NC_000023.10:g.(31241239_31279071)_(31792310_31838091)dup
|
|
|
NC_000023.10:g.(31279134_31341714)_(31645980_31676106)dup
|
|
|
NC_000023.10:g.(31366752_31462597)_(31525571_31645789)dup
|
|
|
NC_000023.10:g.(31366752_31462597)_(31986632_32235032)dup
|
|
|
NC_000023.10:g.(31676262_31697491)_(32305819_32328198)dup
|
|
|
NC_000023.10:g.(31747866_31792076)_(31986632_32235032)dup
|
|
|
NC_000023.10:g.(31792310_31838091)_(32490427_32503035)dup
|
|
|
NC_000023.10:g.(32305819_32328198)_(32328394_32360216)dup
|
|
|
NC_000023.10:g.(32328394_32360216)_(32360400_32361250)dup
|
|
|
NC_000023.10:g.(32328394_32360216)_(32366646_32380904)dup
|
|
|
NC_000023.10:g.(32366646_32380904)_(32430031_32456357)dup
|
|
|
NC_000023.10:g.(32381076_32382698)_(32382828_32383136)dup
|
|
|
NC_000023.10:g.(32382828_32383136)_(32383317_32398626)dup
|
|
|
NC_000023.10:g.(32383317_32398626)_(32398798_32404426)dup
|
|
|
NC_000023.10:g.(32407792_32408187)_(32408299_32429868)dup
|
|
|
NC_000023.10:g.(32408299_32429868)_(32563452_32583818)dup
|
|
|
NC_000023.10:g.(32456508_32459296)_(32459432_32466572)dup
|
|
|
NC_000023.10:g.(32459432_32466572)_(32663270_32715986)dup
|
|
|
NC_000023.10:g.(32466756_32472778)_(32472950_32481555)dup
|
|
|
NC_000023.10:g.(32563452_32583818)_(32613994_32632419)dup
|
|
|
NC_000023.10:g.(32613994_32632419)_(32663270_32715986)dup
|
|
|
NC_000023.10:g.(32867938_33038255)_(33229674_?)dup
|
|
|
NC_000023.10:g.(33038318_33229398)_(33229674_?)dup
|
|
|
NC_000023.10:g.(595562_601555)_(607559_?)dup
|
|
|
NC_000023.10:g.(?_135229558)_(135293519_?)dup
|
|
|
NC_000023.10:g.(?_14861528)_(14891192_?)dup
|
|
|
NC_000023.10:g.(?_151999510)_(152037908_?)dup
|
|
|
NC_000023.10:g.(?_20168028)_(20285028_?)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31152312_31164407)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31191722_31196048)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31241239_31279071)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31279134_31341714)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31341776_31366672)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31497221_31514904)dup
|
|
|
NC_000023.10:g.(?_31137344)_(31645980_31676106)dup
|
|
|
NC_000023.10:g.(?_37639269)_(37672715_?)dup
|
|
|
NC_000023.10:g.(?_46696346)_(46741794_?)dup
|
|
|
NC_000023.10:g.(?_5808066)_(5827281_5947320)dup
|
|
|
NC_000023.10:g.(?_585078)_(595562_601555)dup
|
|
|
NC_000023.10:g.(?_585078)_(607559_?)dup
|
|
|
NC_000023.10:g.(?_73641327)_(73753765_?)dup
|
|
|
NC_000023.10:g.(?_76760355)_(76777867_76778729)dup
|
|
|
NC_000023.10:g.(?_77081860)_(77131095_77150805)dup
|
|
|
NC_000023.11:g.(?_31119227)_(31348635_31444480)dup
|
|
|
NM_000016.6(ACADM):c.1205G>A (p.Gly402Asp)
|
|
|
NM_000016.6(ACADM):c.1205G>T (p.Gly402Val)
|
rs1553127382
|
|
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala)
|
rs1462472677
|
|
NM_000016.6(ACADM):c.388-12_388-10del
|
rs398123076
|
|
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser)
|
rs200754053
|
|
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu)
|
rs200724875
|
|
NM_000016.6(ACADM):c.631C>T (p.Pro211Ser)
|
rs2100408048
|
|
NM_000016.6(ACADM):c.653C>A (p.Ala218Asp)
|
|
|
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)
|
rs149678400
|
|
NM_000016.6(ACADM):c.683C>T (p.Thr228Ile)
|
rs149678400
|
|
NM_000016.6(ACADM):c.708+6G>T
|
rs958629659
|
|
NM_000016.6(ACADM):c.86G>T (p.Arg29Leu)
|
rs769906625
|
|
NM_000016.6(ACADM):c.905A>G (p.Tyr302Cys)
|
|
|
NM_000016.6(ACADM):c.[351A>C;362C>T]
|
|
|
NM_000017.4(ACADS):c.1195C>T (p.Arg399Trp)
|
rs375931905
|
|
NM_000017.4(ACADS):c.508G>A (p.Ala170Thr)
|
rs765604622
|
|
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)
|
rs754325237
|
|
NM_000018.4(ACADVL):c.1183-7A>G
|
rs750441118
|
|
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe)
|
rs1161495077
|
|
NM_000018.4(ACADVL):c.513C>G (p.Asp171Glu)
|
rs2071227581
|
|
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp)
|
rs796051909
|
|
NM_000018.4(ACADVL):c.736A>G (p.Ser246Gly)
|
rs1555528320
|
|
NM_000019.4(ACAT1):c.401T>C (p.Met134Thr)
|
|
|
NM_000019.4(ACAT1):c.613A>C (p.Asn205His)
|
rs748135542
|
|
NM_000019.4(ACAT1):c.730+6G>C
|
|
|
NM_000021.4(PSEN1):c.1132G>A (p.Gly378Arg)
|
|
|
NM_000021.4(PSEN1):c.485T>C (p.Ile162Thr)
|
|
|
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser)
|
rs1898533739
|
|
NM_000021.4(PSEN1):c.869-6C>T
|
|
|
NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)
|
|
|
NM_000022.4(ADA):c.1079-1G>A
|
|
|
NM_000023.4(SGCA):c.265C>T (p.Leu89Phe)
|
rs773161308
|
|
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del)
|
rs1555568383
|
|
NM_000023.4(SGCA):c.304G>A (p.Val102Ile)
|
rs1266940329
|
|
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys)
|
rs574376340
|
|
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)
|
rs757481230
|
|
NM_000023.4(SGCA):c.730T>A (p.Trp244Arg)
|
|
|
NM_000027.4(AGA):c.1007del (p.Asn336fs)
|
|
|
NM_000027.4(AGA):c.392C>T (p.Ser131Leu)
|
|
|
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)
|
rs386833433
|
|
NM_000030.2:c.165+15_166-18dup
|
|
|
NM_000030.3(AGXT):c.1168_1169del (p.Lys390fs)
|
|
|
NM_000030.3(AGXT):c.190A>T (p.Ile64Phe)
|
|
|
NM_000030.3(AGXT):c.283_285dup (p.Glu95dup)
|
rs180177190
|
|
NM_000030.3(AGXT):c.307G>T (p.Gly103Trp)
|
|
|
NM_000030.3(AGXT):c.385G>A (p.Asp129Asn)
|
rs180177212
|
|
NM_000030.3(AGXT):c.385G>C (p.Asp129His)
|
rs180177212
|
|
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro)
|
rs180177271
|
|
NM_000033.4(ABCD1):c.143C>T (p.Ala48Val)
|
|
|
NM_000033.4(ABCD1):c.1794G>T (p.Met598Ile)
|
|
|
NM_000033.4(ABCD1):c.314C>T (p.Thr105Ile)
|
rs2148388980
|
|
NM_000033.4(ABCD1):c.347G>A (p.Gly116Glu)
|
rs2091705857
|
|
NM_000033.4(ABCD1):c.688C>T (p.Leu230Phe)
|
rs2148389639
|
|
NM_000033.4(ABCD1):c.712G>A (p.Ala238Thr)
|
|
|
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu)
|
rs139442303
|
|
NM_000036.3(AMPD1):c.1319C>T (p.Ser440Phe)
|
|
|
NM_000037.4(ANK1):c.4642G>C (p.Asp1548His)
|
|
|
NM_000038.6(APC):c.1115A>G (p.Asn372Ser)
|
rs1580529465
|
|
NM_000038.6(APC):c.1120C>T (p.Arg374Trp)
|
rs947634162
|
|
NM_000038.6(APC):c.1319C>G (p.Ala440Gly)
|
rs1561545834
|
|
NM_000038.6(APC):c.1321C>G (p.Pro441Ala)
|
rs1444245614
|
|
NM_000038.6(APC):c.1412G>T (p.Gly471Val)
|
rs1191271600
|
|
NM_000038.6(APC):c.1440A>C (p.Gln480His)
|
rs863224537
|
|
NM_000038.6(APC):c.1440A>T (p.Gln480His)
|
rs863224537
|
|
NM_000038.6(APC):c.1446C>G (p.Asp482Glu)
|
rs1763766928
|
|
NM_000038.6(APC):c.146A>C (p.Lys49Thr)
|
rs587781587
|
|
NM_000038.6(APC):c.1481G>A (p.Ser494Asn)
|
rs1554081691
|
|
NM_000038.6(APC):c.1505G>T (p.Gly502Val)
|
|
|
NM_000038.6(APC):c.1579A>G (p.Arg527Gly)
|
rs751120046
|
|
NM_000038.6(APC):c.1626+6A>G
|
rs1197354854
|
|
NM_000038.6(APC):c.1912A>G (p.Ile638Val)
|
rs75117039
|
|
NM_000038.6(APC):c.1977C>A (p.Asn659Lys)
|
rs1561574172
|
|
NM_000038.6(APC):c.2074C>G (p.Pro692Ala)
|
|
|
NM_000038.6(APC):c.211C>A (p.Arg71Ser)
|
rs767741687
|
|
NM_000038.6(APC):c.2188A>G (p.Met730Val)
|
rs1580619095
|
|
NM_000038.6(APC):c.220G>C (p.Glu74Gln)
|
rs876658941
|
|
NM_000038.6(APC):c.2383C>A (p.Leu795Ile)
|
rs1442780982
|
|
NM_000038.6(APC):c.2419GAT[1] (p.Asp808del)
|
rs587781469
|
|
NM_000038.6(APC):c.2434G>C (p.Asp812His)
|
rs761178697
|
|
NM_000038.6(APC):c.2449G>A (p.Gly817Ser)
|
rs1169702353
|
|
NM_000038.6(APC):c.2483C>T (p.Thr828Ile)
|
rs786203696
|
|
NM_000038.6(APC):c.2503T>C (p.Ser835Pro)
|
rs748302469
|
|
NM_000038.6(APC):c.250G>A (p.Gly84Arg)
|
|
|
NM_000038.6(APC):c.2552G>A (p.Ser851Asn)
|
rs1554084260
|
|
NM_000038.6(APC):c.2593C>G (p.Pro865Ala)
|
rs192620988
|
|
NM_000038.6(APC):c.2707G>A (p.Asp903Asn)
|
rs587782610
|
|
NM_000038.6(APC):c.2840G>T (p.Cys947Phe)
|
rs997271472
|
|
NM_000038.6(APC):c.2870A>C (p.Lys957Thr)
|
rs777881096
|
|
NM_000038.6(APC):c.2923A>G (p.Lys975Glu)
|
rs780597635
|
|
NM_000038.6(APC):c.3125G>C (p.Ser1042Thr)
|
rs786203919
|
|
NM_000038.6(APC):c.3425A>G (p.Asn1142Ser)
|
rs138410865
|
|
NM_000038.6(APC):c.3445GAA[2] (p.Glu1151del)
|
rs761327787
|
|
NM_000038.6(APC):c.3469G>C (p.Glu1157Gln)
|
rs1554085038
|
|
NM_000038.6(APC):c.3535T>C (p.Tyr1179His)
|
rs751249843
|
|
NM_000038.6(APC):c.358A>G (p.Arg120Gly)
|
rs876659470
|
|
NM_000038.6(APC):c.3607G>C (p.Gly1203Arg)
|
rs1057518472
|
|
NM_000038.6(APC):c.3837_3845dup (p.1277_1279LSS[3])
|
rs1561587936
|
|
NM_000038.6(APC):c.4082C>T (p.Pro1361Leu)
|
rs1060503264
|
|
NM_000038.6(APC):c.4088A>G (p.Lys1363Arg)
|
rs373607243
|
|
NM_000038.6(APC):c.4091GTG[1] (p.Gly1365del)
|
rs1580643938
|
|
NM_000038.6(APC):c.4110A>T (p.Lys1370Asn)
|
rs876660867
|
|
NM_000038.6(APC):c.4147A>G (p.Met1383Val)
|
rs1064793836
|
|
NM_000038.6(APC):c.420G>C (p.Glu140Asp)
|
rs202161017
|
|
NM_000038.6(APC):c.4240G>C (p.Val1414Leu)
|
rs755300914
|
|
NM_000038.6(APC):c.4279C>G (p.Pro1427Ala)
|
rs876658499
|
|
NM_000038.6(APC):c.4349G>A (p.Arg1450Gln)
|
rs587782678
|
|
NM_000038.6(APC):c.437C>T (p.Ala146Val)
|
rs1305794169
|
|
NM_000038.6(APC):c.4462T>G (p.Leu1488Val)
|
rs765730576
|
|
NM_000038.6(APC):c.4562A>G (p.Glu1521Gly)
|
rs1765709676
|
|
NM_000038.6(APC):c.4692A>C (p.Leu1564Phe)
|
rs1060503364
|
|
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly)
|
rs138367627
|
|
NM_000038.6(APC):c.4765C>A (p.Arg1589Ser)
|
rs72541813
|
|
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)
|
rs72541813
|
|
NM_000038.6(APC):c.4813G>C (p.Val1605Leu)
|
rs1554086219
|
|
NM_000038.6(APC):c.4865A>G (p.Asn1622Ser)
|
rs2149925864
|
|
NM_000038.6(APC):c.4879C>A (p.Gln1627Lys)
|
rs1554086263
|
|
NM_000038.6(APC):c.4973G>C (p.Ser1658Thr)
|
rs1561596738
|
|
NM_000038.6(APC):c.5020G>A (p.Gly1674Arg)
|
rs899555020
|
|
NM_000038.6(APC):c.5026_5028del (p.Arg1676del)
|
rs768369050
|
|
NM_000038.6(APC):c.506T>C (p.Ile169Thr)
|
rs1757567981
|
|
NM_000038.6(APC):c.5140G>C (p.Asp1714His)
|
rs148275069
|
|
NM_000038.6(APC):c.5201A>C (p.Lys1734Thr)
|
rs1204161988
|
|
NM_000038.6(APC):c.5348C>T (p.Thr1783Ile)
|
rs878853456
|
|
NM_000038.6(APC):c.5421CAA[1] (p.Asn1808del)
|
rs587782002
|
|
NM_000038.6(APC):c.5465T>G (p.Val1822Gly)
|
rs459552
|
|
NM_000038.6(APC):c.5486A>G (p.Asn1829Ser)
|
rs767612847
|
|
NM_000038.6(APC):c.5501_5506del (p.Val1834_Arg1835del)
|
rs587778029
|
|
NM_000038.6(APC):c.5527C>A (p.Pro1843Thr)
|
rs1461006300
|
|
NM_000038.6(APC):c.5614G>A (p.Val1872Ile)
|
rs1580661875
|
|
NM_000038.6(APC):c.5650G>A (p.Ala1884Thr)
|
rs1580662124
|
|
NM_000038.6(APC):c.5688C>G (p.Ser1896Arg)
|
rs1561601778
|
|
NM_000038.6(APC):c.5738T>C (p.Ile1913Thr)
|
rs1413246437
|
|
NM_000038.6(APC):c.5778A>G (p.Ile1926Met)
|
rs1244090932
|
|
NM_000038.6(APC):c.5821C>A (p.Pro1941Thr)
|
|
|
NM_000038.6(APC):c.5879_5880delinsTA (p.Pro1960Leu)
|
rs587779801
|
|
NM_000038.6(APC):c.5894A>G (p.His1965Arg)
|
rs773776516
|
|
NM_000038.6(APC):c.5912C>A (p.Ser1971Tyr)
|
rs754691867
|
|
NM_000038.6(APC):c.5914C>T (p.Leu1972Phe)
|
rs1222940653
|
|
NM_000038.6(APC):c.5998A>G (p.Ser2000Gly)
|
rs587782271
|
|
NM_000038.6(APC):c.6001A>G (p.Lys2001Glu)
|
rs1580666566
|
|
NM_000038.6(APC):c.6047A>T (p.Asp2016Val)
|
rs1554087168
|
|
NM_000038.6(APC):c.6248T>C (p.Ile2083Thr)
|
rs758715972
|
|
NM_000038.6(APC):c.626A>G (p.Asp209Gly)
|
rs1554072636
|
|
NM_000038.6(APC):c.646-9T>C
|
rs1060504878
|
|
NM_000038.6(APC):c.6565A>C (p.Lys2189Gln)
|
rs1554087525
|
|
NM_000038.6(APC):c.6688A>G (p.Met2230Val)
|
rs751547785
|
|
NM_000038.6(APC):c.6746A>G (p.Lys2249Arg)
|
rs1766291767
|
|
NM_000038.6(APC):c.6767C>A (p.Pro2256Gln)
|
rs1766296574
|
|
NM_000038.6(APC):c.6812C>G (p.Pro2271Arg)
|
rs1561610413
|
|
NM_000038.6(APC):c.6853G>A (p.Val2285Ile)
|
rs1554087794
|
|
NM_000038.6(APC):c.6875T>G (p.Ile2292Arg)
|
rs762705847
|
|
NM_000038.6(APC):c.6926C>T (p.Pro2309Leu)
|
rs1060503329
|
|
NM_000038.6(APC):c.6944A>G (p.Gln2315Arg)
|
rs1060503273
|
|
NM_000038.6(APC):c.6966G>C (p.Gln2322His)
|
rs786204171
|
|
NM_000038.6(APC):c.6970C>G (p.Pro2324Ala)
|
rs770250821
|
|
NM_000038.6(APC):c.713A>G (p.Gln238Arg)
|
rs1759740429
|
|
NM_000038.6(APC):c.7211T>A (p.Met2404Lys)
|
rs864622246
|
|
NM_000038.6(APC):c.7303C>G (p.Pro2435Ala)
|
rs1114167590
|
|
NM_000038.6(APC):c.7306G>T (p.Val2436Leu)
|
rs1029102261
|
|
NM_000038.6(APC):c.7334A>G (p.Lys2445Arg)
|
rs1465349688
|
|
NM_000038.6(APC):c.7400C>T (p.Pro2467Leu)
|
rs758713824
|
|
NM_000038.6(APC):c.7598C>G (p.Ser2533Cys)
|
rs1766520094
|
|
NM_000038.6(APC):c.7603A>G (p.Ser2535Gly)
|
rs1403987270
|
|
NM_000038.6(APC):c.7612A>G (p.Arg2538Gly)
|
rs1766523945
|
|
NM_000038.6(APC):c.7619C>A (p.Pro2540Gln)
|
|
|
NM_000038.6(APC):c.7803T>G (p.Ser2601Arg)
|
rs2149994136
|
|
NM_000038.6(APC):c.7858T>A (p.Phe2620Ile)
|
rs587781816
|
|
NM_000038.6(APC):c.8006C>G (p.Pro2669Arg)
|
rs1335624903
|
|
NM_000038.6(APC):c.8138T>C (p.Met2713Thr)
|
rs1479889029
|
|
NM_000038.6(APC):c.813G>A (p.Met271Ile)
|
rs1064793903
|
|
NM_000038.6(APC):c.8146G>T (p.Val2716Leu)
|
rs587778044
|
|
NM_000038.6(APC):c.8203G>C (p.Gly2735Arg)
|
rs376392084
|
|
NM_000038.6(APC):c.8306A>G (p.Lys2769Arg)
|
rs878853475
|
|
NM_000038.6(APC):c.8321G>C (p.Ser2774Thr)
|
rs863224553
|
|
NM_000038.6(APC):c.835G>T (p.Gly279Cys)
|
rs1554079129
|
|
NM_000038.6(APC):c.8368C>G (p.Pro2790Ala)
|
rs1580692838
|
|
NM_000038.6(APC):c.8440A>G (p.Lys2814Glu)
|
rs756826512
|
|
NM_000038.6(APC):c.8473T>C (p.Ser2825Pro)
|
rs1766756689
|
|
NM_000038.6(APC):c.8492C>G (p.Pro2831Arg)
|
rs773513581
|
|
NM_000038.6(APC):c.933+7G>A
|
rs369087912
|
|
NM_000039.3(APOA1):c.*11_*15del
|
|
|
NM_000039.3(APOA1):c.11C>T (p.Ala4Val)
|
rs1265273561
|
|
NM_000039.3(APOA1):c.283T>C (p.Phe95Leu)
|
rs2134231444
|
|
NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del)
|
rs532489785
|
|
NM_000039.3(APOA1):c.752T>A (p.Val251Asp)
|
rs760566805
|
|
NM_000040.3(APOC3):c.271G>A (p.Val91Ile)
|
|
|
NM_000040.3(APOC3):c.56-15C>A
|
|
|
NM_000045.4(ARG1):c.314_345delinsATGCAAGCATCAGGATGACT (p.Ile105_His115delinsAsnAlaSerIleArgMetThr)
|
|
|
NM_000046.5(ARSB):c.1032C>A (p.Asn344Lys)
|
|
|
NM_000046.5(ARSB):c.1177C>T (p.His393Tyr)
|
|
|
NM_000046.5(ARSB):c.1595G>A (p.Trp532Ter)
|
|
|
NM_000046.5(ARSB):c.160G>C (p.Asp54His)
|
|
|
NM_000046.5(ARSB):c.175G>A (p.Asp59Asn)
|
rs1236509896
|
|
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln)
|
rs397514441
|
|
NM_000046.5(ARSB):c.274A>G (p.Thr92Ala)
|
|
|
NM_000046.5(ARSB):c.286A>G (p.Ser96Gly)
|
|
|
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg)
|
rs1554032095
|
|
NM_000046.5(ARSB):c.675C>A (p.Asn225Lys)
|
|
|
NM_000047.3(ARSL):c.1156G>T (p.Gly386Trp)
|
rs2147349610
|
|
NM_000047.3(ARSL):c.1672C>A (p.Gln558Lys)
|
rs2089175161
|
|
NM_000048.4(ASL):c.35G>T (p.Arg12Leu)
|
|
|
NM_000048.4(ASL):c.434A>G (p.Asp145Gly)
|
|
|
NM_000048.4(ASL):c.687C>G (p.Ser229Arg)
|
|
|
NM_000048.4(ASL):c.767T>C (p.Met256Thr)
|
|
|
NM_000049.4(ASPA):c.341A>C (p.Asp114Ala)
|
rs2073632657
|
|
NM_000049.4(ASPA):c.478C>T (p.Pro160Ser)
|
rs1342547785
|
|
NM_000049.4(ASPA):c.65G>A (p.Gly22Glu)
|
rs1256380639
|
|
NM_000049.4(ASPA):c.731A>T (p.His244Leu)
|
|
|
NM_000049.4(ASPA):c.902T>C (p.Leu301Pro)
|
|
|
NM_000051.4(ATM):c.100A>T (p.Ile34Phe)
|
rs1555054094
|
|
NM_000051.4(ATM):c.1096A>G (p.Ile366Val)
|
rs879254198
|
|
NM_000051.4(ATM):c.1139A>G (p.Tyr380Cys)
|
rs786203855
|
|
NM_000051.4(ATM):c.1192G>A (p.Asp398Asn)
|
rs876658833
|
|
NM_000051.4(ATM):c.1203G>C (p.Gln401His)
|
rs1214283617
|
|
NM_000051.4(ATM):c.1235+4_1235+5del
|
rs770033355
|
|
NM_000051.4(ATM):c.1249A>G (p.Thr417Ala)
|
rs863224556
|
|
NM_000051.4(ATM):c.1295T>G (p.Leu432Arg)
|
rs546621356
|
|
NM_000051.4(ATM):c.1300C>G (p.Pro434Ala)
|
rs1064795171
|
|
NM_000051.4(ATM):c.1354A>G (p.Thr452Ala)
|
rs1324524747
|
|
NM_000051.4(ATM):c.137A>C (p.His46Pro)
|
rs1591447177
|
|
NM_000051.4(ATM):c.1461T>G (p.Ile487Met)
|
rs2080108393
|
|
NM_000051.4(ATM):c.14T>G (p.Leu5Arg)
|
|
|
NM_000051.4(ATM):c.1555G>A (p.Val519Ile)
|
rs758056561
|
|
NM_000051.4(ATM):c.157A>C (p.Lys53Gln)
|
rs876659078
|
|
NM_000051.4(ATM):c.1609C>T (p.Pro537Ser)
|
rs1165590160
|
|
NM_000051.4(ATM):c.1642A>G (p.Thr548Ala)
|
rs878853486
|
|
NM_000051.4(ATM):c.1655C>G (p.Pro552Arg)
|
rs2135340121
|
|
NM_000051.4(ATM):c.1670T>G (p.Met557Arg)
|
rs786202770
|
|
NM_000051.4(ATM):c.1673G>T (p.Gly558Val)
|
rs1064795257
|
|
NM_000051.4(ATM):c.1689G>C (p.Met563Ile)
|
rs786202469
|
|
NM_000051.4(ATM):c.1723T>A (p.Ser575Thr)
|
rs1565385720
|
|
NM_000051.4(ATM):c.172G>C (p.Asp58His)
|
rs876660661
|
|
NM_000051.4(ATM):c.1763A>G (p.Asp588Gly)
|
rs2080177696
|
|
NM_000051.4(ATM):c.1800C>T (p.His600=)
|
rs750715942
|
|
NM_000051.4(ATM):c.1915G>C (p.Asp639His)
|
rs1591533828
|
|
NM_000051.4(ATM):c.1991C>A (p.Thr664Asn)
|
rs1231343218
|
|
NM_000051.4(ATM):c.2030G>A (p.Ser677Asn)
|
rs2080308052
|
|
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr)
|
rs1485409783
|
|
NM_000051.4(ATM):c.2056C>A (p.Leu686Ile)
|
rs1335638362
|
|
NM_000051.4(ATM):c.2124+5G>A
|
rs1565390942
|
|
NM_000051.4(ATM):c.2125A>G (p.Ile709Val)
|
rs864622259
|
|
NM_000051.4(ATM):c.2170G>A (p.Gly724Ser)
|
rs887317346
|
|
NM_000051.4(ATM):c.2337G>A (p.Met779Ile)
|
rs1227866298
|
|
NM_000051.4(ATM):c.2363G>A (p.Ser788Asn)
|
rs1555075809
|
|
NM_000051.4(ATM):c.2377-7A>G
|
rs2080691600
|
|
NM_000051.4(ATM):c.2386A>C (p.Asn796His)
|
rs201793499
|
|
NM_000051.4(ATM):c.2404T>C (p.Phe802Leu)
|
rs2080695065
|
|
NM_000051.4(ATM):c.2443A>G (p.Ile815Val)
|
rs746090916
|
|
NM_000051.4(ATM):c.2450A>T (p.Asp817Val)
|
rs587779821
|
|
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu)
|
rs199875915
|
|
NM_000051.4(ATM):c.2515G>C (p.Glu839Gln)
|
rs1246807453
|
|
NM_000051.4(ATM):c.2517A>T (p.Glu839Asp)
|
rs1060501697
|
|
NM_000051.4(ATM):c.251C>T (p.Ala84Val)
|
rs587781937
|
|
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu)
|
rs587781808
|
|
NM_000051.4(ATM):c.2557T>C (p.Ser853Pro)
|
rs876658913
|
|
NM_000051.4(ATM):c.2578G>C (p.Asp860His)
|
rs587779825
|
|
NM_000051.4(ATM):c.2606C>T (p.Ala869Val)
|
rs145513717
|
|
NM_000051.4(ATM):c.2680G>T (p.Asp894Tyr)
|
rs1400094698
|
|
NM_000051.4(ATM):c.2720G>A (p.Cys907Tyr)
|
rs775371838
|
|
NM_000051.4(ATM):c.2819A>C (p.Lys940Thr)
|
rs762078586
|
|
NM_000051.4(ATM):c.2819A>T (p.Lys940Ile)
|
rs762078586
|
|
NM_000051.4(ATM):c.2838+9C>T
|
rs370160823
|
|
NM_000051.4(ATM):c.289A>G (p.Ile97Val)
|
rs1565347206
|
|
NM_000051.4(ATM):c.2922-7dup
|
rs932219783
|
|
NM_000051.4(ATM):c.2962A>G (p.Lys988Glu)
|
rs772327699
|
|
NM_000051.4(ATM):c.2987A>G (p.His996Arg)
|
rs876660034
|
|
NM_000051.4(ATM):c.3078-16A>C
|
|
|
NM_000051.4(ATM):c.3080A>G (p.His1027Arg)
|
rs786204217
|
|
NM_000051.4(ATM):c.3174G>C (p.Trp1058Cys)
|
rs1064796080
|
|
NM_000051.4(ATM):c.3205C>A (p.Pro1069Thr)
|
rs751714261
|
|
NM_000051.4(ATM):c.3208G>A (p.Val1070Ile)
|
rs587780620
|
|
NM_000051.4(ATM):c.3413C>G (p.Ala1138Gly)
|
rs1565441399
|
|
NM_000051.4(ATM):c.3530G>A (p.Cys1177Tyr)
|
rs587782470
|
|
NM_000051.4(ATM):c.3558A>C (p.Glu1186Asp)
|
rs12786957
|
|
NM_000051.4(ATM):c.3665T>C (p.Leu1222Pro)
|
rs863224563
|
|
NM_000051.4(ATM):c.3677A>T (p.Asp1226Val)
|
rs1555092445
|
|
NM_000051.4(ATM):c.3689A>T (p.Asn1230Ile)
|
rs587782195
|
|
NM_000051.4(ATM):c.368A>G (p.Tyr123Cys)
|
rs759673348
|
|
NM_000051.4(ATM):c.3710T>G (p.Ile1237Ser)
|
rs786202897
|
|
NM_000051.4(ATM):c.3746+5G>C
|
|
|
NM_000051.4(ATM):c.3812T>C (p.Ile1271Thr)
|
rs1308232635
|
|
NM_000051.4(ATM):c.3832G>C (p.Asp1278His)
|
rs730881365
|
|
NM_000051.4(ATM):c.3939G>C (p.Glu1313Asp)
|
rs2082386564
|
|
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe)
|
rs1064794874
|
|
NM_000051.4(ATM):c.398A>T (p.Asn133Ile)
|
rs730881330
|
|
NM_000051.4(ATM):c.3993+10C>T
|
rs587782262
|
|
NM_000051.4(ATM):c.3994-11_3994-4del
|
rs1060501665
|
|
NM_000051.4(ATM):c.4085G>T (p.Ser1362Ile)
|
rs923836140
|
|
NM_000051.4(ATM):c.4145C>T (p.Pro1382Leu)
|
rs752460436
|
|
NM_000051.4(ATM):c.4236+9A>G
|
rs1591661022
|
|
NM_000051.4(ATM):c.4237G>A (p.Asp1413Asn)
|
rs1337392659
|
|
NM_000051.4(ATM):c.4291A>C (p.Asn1431His)
|
rs748144169
|
|
NM_000051.4(ATM):c.4304A>G (p.Lys1435Arg)
|
rs769980220
|
|
NM_000051.4(ATM):c.4311A>T (p.Arg1437Ser)
|
rs1555097507
|
|
NM_000051.4(ATM):c.4313T>C (p.Ile1438Thr)
|
|
|
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr)
|
rs587782126
|
|
NM_000051.4(ATM):c.4361A>G (p.Lys1454Arg)
|
rs1451928082
|
|
NM_000051.4(ATM):c.4400A>G (p.Asp1467Gly)
|
rs730881392
|
|
NM_000051.4(ATM):c.4420C>A (p.His1474Asn)
|
rs587779840
|
|
NM_000051.4(ATM):c.4426A>G (p.Ile1476Val)
|
rs1565457035
|
|
NM_000051.4(ATM):c.4516G>T (p.Val1506Leu)
|
rs760542469
|
|
NM_000051.4(ATM):c.4544A>C (p.Asn1515Thr)
|
rs1565461414
|
|
NM_000051.4(ATM):c.4600_4605del (p.Val1534_Gln1535del)
|
rs768183241
|
|
NM_000051.4(ATM):c.4727T>C (p.Ile1576Thr)
|
rs2082922133
|
|
NM_000051.4(ATM):c.4777-10dup
|
rs1398289633
|
|
NM_000051.4(ATM):c.4868T>C (p.Leu1623Pro)
|
rs786203017
|
|
NM_000051.4(ATM):c.489G>T (p.Gln163His)
|
rs1057523087
|
|
NM_000051.4(ATM):c.4931T>C (p.Met1644Thr)
|
rs55843558
|
|
NM_000051.4(ATM):c.4943T>C (p.Val1648Ala)
|
rs997081415
|
|
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val)
|
rs766053182
|
|
NM_000051.4(ATM):c.5096C>T (p.Ala1699Val)
|
rs992234584
|
|
NM_000051.4(ATM):c.5186T>C (p.Val1729Ala)
|
rs1179068103
|
|
NM_000051.4(ATM):c.5197G>C (p.Ala1733Pro)
|
|
|
NM_000051.4(ATM):c.523T>G (p.Tyr175Asp)
|
rs2079697425
|
|
NM_000051.4(ATM):c.5329G>A (p.Val1777Ile)
|
rs1064794192
|
|
NM_000051.4(ATM):c.533C>T (p.Pro178Leu)
|
rs1591499842
|
|
NM_000051.4(ATM):c.5372A>G (p.Asp1791Gly)
|
rs367987632
|
|
NM_000051.4(ATM):c.5402A>C (p.Asn1801Thr)
|
rs1555106445
|
|
NM_000051.4(ATM):c.5402A>G (p.Asn1801Ser)
|
rs1555106445
|
|
NM_000051.4(ATM):c.5459A>C (p.Lys1820Thr)
|
rs983664978
|
|
NM_000051.4(ATM):c.5608T>C (p.Phe1870Leu)
|
|
|
NM_000051.4(ATM):c.5675-7_5675-4del
|
rs1189695629
|
|
NM_000051.4(ATM):c.5749A>G (p.Arg1917Gly)
|
rs2083822627
|
|
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile)
|
rs587781963
|
|
NM_000051.4(ATM):c.5915A>C (p.Lys1972Thr)
|
rs730881377
|
|
NM_000051.4(ATM):c.6040G>C (p.Glu2014Gln)
|
rs375783941
|
|
NM_000051.4(ATM):c.6086C>G (p.Pro2029Arg)
|
rs863224575
|
|
NM_000051.4(ATM):c.6095+4A>G
|
rs1555113632
|
|
NM_000051.4(ATM):c.6119C>T (p.Ala2040Val)
|
rs1299506506
|
|
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp)
|
rs786203767
|
|
NM_000051.4(ATM):c.6179G>A (p.Arg2060His)
|
rs376521407
|
|
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe)
|
rs767406075
|
|
NM_000051.4(ATM):c.6263A>G (p.Asn2088Ser)
|
rs2084783116
|
|
NM_000051.4(ATM):c.6304G>C (p.Ala2102Pro)
|
rs1565503340
|
|
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser)
|
rs573290117
|
|
NM_000051.4(ATM):c.633C>G (p.Asp211Glu)
|
rs1060501634
|
|
NM_000051.4(ATM):c.6437G>A (p.Ser2146Asn)
|
rs56815840
|
|
NM_000051.4(ATM):c.6443A>T (p.Lys2148Ile)
|
rs730881382
|
|
NM_000051.4(ATM):c.644A>G (p.Lys215Arg)
|
rs755074633
|
|
NM_000051.4(ATM):c.6452G>C (p.Arg2151Thr)
|
rs2136222746
|
|
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr)
|
rs1555117132
|
|
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr)
|
rs587781562
|
|
NM_000051.4(ATM):c.6718G>C (p.Asp2240His)
|
rs587782478
|
|
NM_000051.4(ATM):c.6722A>G (p.Asn2241Ser)
|
rs786202583
|
|
NM_000051.4(ATM):c.6758A>C (p.Lys2253Thr)
|
rs786203332
|
|
NM_000051.4(ATM):c.6795C>G (p.Phe2265Leu)
|
rs3218699
|
|
NM_000051.4(ATM):c.6807+8del
|
rs1555119385
|
|
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)
|
rs1800061
|
|
NM_000051.4(ATM):c.6922G>A (p.Ala2308Thr)
|
rs1591134072
|
|
NM_000051.4(ATM):c.6952A>C (p.Lys2318Gln)
|
rs1449259481
|
|
NM_000051.4(ATM):c.695T>C (p.Ile232Thr)
|
rs786203502
|
|
NM_000051.4(ATM):c.6975+4T>G
|
rs876660240
|
|
NM_000051.4(ATM):c.6975G>A (p.Ala2325=)
|
rs556778314
|
|
NM_000051.4(ATM):c.6975G>C (p.Ala2325=)
|
rs556778314
|
|
NM_000051.4(ATM):c.6983C>T (p.Pro2328Leu)
|
rs786202730
|
|
NM_000051.4(ATM):c.703G>A (p.Ala235Thr)
|
rs76379269
|
|
NM_000051.4(ATM):c.7049T>C (p.Leu2350Ser)
|
rs2085820749
|
|
NM_000051.4(ATM):c.7128T>G (p.Ser2376Arg)
|
rs2136412428
|
|
NM_000051.4(ATM):c.7175delinsTCATTGA (p.Arg2392delinsLeuIleGlu)
|
rs2136415518
|
|
NM_000051.4(ATM):c.7229T>A (p.Phe2410Tyr)
|
rs758351633
|
|
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)
|
rs786203311
|
|
NM_000051.4(ATM):c.7253A>C (p.Lys2418Thr)
|
rs1565527146
|
|
NM_000051.4(ATM):c.73-3C>T
|
rs1555054039
|
|
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro)
|
rs1555123032
|
|
NM_000051.4(ATM):c.736A>T (p.Asn246Tyr)
|
|
|
NM_000051.4(ATM):c.737A>G (p.Asn246Ser)
|
rs781023264
|
|
NM_000051.4(ATM):c.7445T>C (p.Met2482Thr)
|
rs1555123191
|
|
NM_000051.4(ATM):c.7462T>C (p.Cys2488Arg)
|
rs1555123216
|
|
NM_000051.4(ATM):c.7560G>A (p.Met2520Ile)
|
rs1591167543
|
|
NM_000051.4(ATM):c.7685C>A (p.Ala2562Asp)
|
rs1322308382
|
|
NM_000051.4(ATM):c.7739G>T (p.Arg2580Ile)
|
rs761790685
|
|
NM_000051.4(ATM):c.7788+3A>G
|
rs869312788
|
|
NM_000051.4(ATM):c.779C>T (p.Pro260Leu)
|
rs961262202
|
|
NM_000051.4(ATM):c.7927+5G>A
|
rs1299306446
|
|
NM_000051.4(ATM):c.79G>T (p.Val27Phe)
|
rs754770960
|
|
NM_000051.4(ATM):c.805C>T (p.His269Tyr)
|
rs1591504278
|
|
NM_000051.4(ATM):c.8079AGG[1] (p.Gly2695del)
|
rs1565540828
|
|
NM_000051.4(ATM):c.8123A>T (p.Asp2708Val)
|
rs2086688080
|
|
NM_000051.4(ATM):c.8140C>A (p.Gln2714Lys)
|
rs1060501695
|
|
NM_000051.4(ATM):c.8251A>G (p.Thr2751Ala)
|
rs2086799919
|
|
NM_000051.4(ATM):c.8268G>A (p.Lys2756=)
|
rs1555128642
|
|
NM_000051.4(ATM):c.8269-10_8269-9del
|
rs587780641
|
|
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn)
|
rs587782417
|
|
NM_000051.4(ATM):c.8360C>T (p.Ala2787Val)
|
rs879253877
|
|
NM_000051.4(ATM):c.8377C>T (p.Pro2793Ser)
|
rs1174335574
|
|
NM_000051.4(ATM):c.840T>G (p.Ile280Met)
|
rs1591504482
|
|
NM_000051.4(ATM):c.8471G>A (p.Cys2824Tyr)
|
rs876660927
|
|
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)
|
rs121434216
|
|
NM_000051.4(ATM):c.8545C>G (p.Arg2849Gly)
|
rs587778080
|
|
NM_000051.4(ATM):c.8605G>C (p.Gly2869Arg)
|
rs748855312
|
|
NM_000051.4(ATM):c.8615A>G (p.His2872Arg)
|
rs1591273938
|
|
NM_000051.4(ATM):c.8660A>C (p.His2887Pro)
|
rs864622173
|
|
NM_000051.4(ATM):c.8671G>C (p.Gly2891Arg)
|
rs1565567541
|
|
NM_000051.4(ATM):c.8672-9T>C
|
rs2137283941
|
|
NM_000051.4(ATM):c.8702C>T (p.Pro2901Leu)
|
rs1565579149
|
|
NM_000051.4(ATM):c.872A>G (p.His291Arg)
|
rs1555067285
|
|
NM_000051.4(ATM):c.8762C>A (p.Thr2921Lys)
|
rs730881329
|
|
NM_000051.4(ATM):c.8787-3T>C
|
rs2089687765
|
|
NM_000051.4(ATM):c.8842A>G (p.Ile2948Val)
|
rs1333760745
|
|
NM_000051.4(ATM):c.8850+5dup
|
rs1400626849
|
|
NM_000051.4(ATM):c.8867C>T (p.Pro2956Leu)
|
rs1555151244
|
|
NM_000051.4(ATM):c.8895G>C (p.Leu2965Phe)
|
rs200899512
|
|
NM_000051.4(ATM):c.8906A>G (p.Tyr2969Cys)
|
rs376524155
|
|
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn)
|
rs587781413
|
|
NM_000051.4(ATM):c.903T>C (p.Gly301=)
|
rs876659335
|
|
NM_000051.4(ATM):c.9068G>A (p.Gly3023Asp)
|
rs769548726
|
|
NM_000051.4(ATM):c.9076C>G (p.Leu3026Val)
|
|
|
NM_000051.4(ATM):c.9142C>T (p.Leu3048Phe)
|
rs876660534
|
|
NM_000051.4(ATM):c.93G>C (p.Lys31Asn)
|
rs863224583
|
|
NM_000051.4(ATM):c.951T>G (p.Asp317Glu)
|
rs876659199
|
|
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
|
|
|
NM_000052.7(ATP7A):c.2068G>C (p.Glu690Gln)
|
|
|
NM_000052.7(ATP7A):c.3044G>C (p.Gly1015Ala)
|
rs2149104921
|
|
NM_000052.7(ATP7A):c.4385C>G (p.Ala1462Gly)
|
|
|
NM_000053.4(ATP7B):c.1100G>C (p.Gly367Ala)
|
|
|
NM_000053.4(ATP7B):c.1192A>G (p.Thr398Ala)
|
|
|
NM_000053.4(ATP7B):c.11A>C (p.Gln4Pro)
|
rs781780227
|
|
NM_000053.4(ATP7B):c.1247C>T (p.Ala416Val)
|
rs1951971023
|
|
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser)
|
rs763788226
|
|
NM_000053.4(ATP7B):c.131A>G (p.Tyr44Cys)
|
rs1209726590
|
|
NM_000053.4(ATP7B):c.1495T>C (p.Cys499Arg)
|
rs749968753
|
|
NM_000053.4(ATP7B):c.1543+15C>G
|
rs1365158305
|
|
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu)
|
rs572122562
|
|
NM_000053.4(ATP7B):c.1946+5dup
|
|
|
NM_000053.4(ATP7B):c.1947-5T>C
|
rs1958647927
|
|
NM_000053.4(ATP7B):c.199A>G (p.Met67Val)
|
|
|
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.2069C>T (p.Pro690Leu)
|
rs1555291809
|
|
NM_000053.4(ATP7B):c.2078C>A (p.Ser693Tyr)
|
rs1212479289
|
|
NM_000053.4(ATP7B):c.2122-3C>T
|
rs1593726901
|
|
NM_000053.4(ATP7B):c.2184C>G (p.Asn728Lys)
|
rs1202766392
|
|
NM_000053.4(ATP7B):c.2207C>T (p.Ala736Val)
|
|
|
NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser)
|
rs1555291181
|
|
NM_000053.4(ATP7B):c.2275A>T (p.Ser759Cys)
|
rs2139534075
|
|
NM_000053.4(ATP7B):c.2290T>C (p.Phe764Leu)
|
|
|
NM_000053.4(ATP7B):c.2306T>C (p.Met769Thr)
|
|
|
NM_000053.4(ATP7B):c.2390C>T (p.Ser797Phe)
|
rs1555290883
|
|
NM_000053.4(ATP7B):c.2448-4G>T
|
rs1593697433
|
|
NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu)
|
rs368589213
|
|
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly)
|
rs752634617
|
|
NM_000053.4(ATP7B):c.2581G>A (p.Ala861Thr)
|
|
|
NM_000053.4(ATP7B):c.2666A>T (p.His889Leu)
|
|
|
NM_000053.4(ATP7B):c.2826C>A (p.Ile942=)
|
rs758712064
|
|
NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu)
|
rs2139048200
|
|
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr)
|
rs1441316018
|
|
NM_000053.4(ATP7B):c.3235T>C (p.Cys1079Arg)
|
rs1376645882
|
|
NM_000053.4(ATP7B):c.3266G>T (p.Gly1089Val)
|
|
|
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr)
|
rs778825095
|
|
NM_000053.4(ATP7B):c.3298T>A (p.Cys1100Ser)
|
rs1566468882
|
|
NM_000053.4(ATP7B):c.3695_3697del (p.Thr1232_Gln1233delinsLys)
|
rs1957150974
|
|
NM_000053.4(ATP7B):c.3982G>A (p.Ala1328Thr)
|
rs1333619338
|
|
NM_000053.4(ATP7B):c.4057T>C (p.Trp1353Arg)
|
rs1160679283
|
|
NM_000053.4(ATP7B):c.4058G>C (p.Trp1353Ser)
|
|
|
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly)
|
rs557577836
|
|
NM_000053.4(ATP7B):c.4277G>T (p.Ser1426Ile)
|
|
|
NM_000054.7(AVPR2):c.1018C>T (p.Leu340Phe)
|
|
|
NM_000054.7(AVPR2):c.1099A>T (p.Lys367Ter)
|
|
|
NM_000054.7(AVPR2):c.377C>T (p.Ser126Phe)
|
rs2148514471
|
|
NM_000054.7(AVPR2):c.427C>T (p.Arg143Cys)
|
|
|
NM_000055.4(BCHE):c.119A>G (p.Lys40Arg)
|
|
|
NM_000055.4(BCHE):c.1802del (p.Gly601fs)
|
|
|
NM_000057.3(BLM):c.4080dupG
|
rs2151202230
|
|
NM_000057.4(BLM):c.1009A>G (p.Thr337Ala)
|
|
|
NM_000057.4(BLM):c.1075A>C (p.Thr359Pro)
|
rs1332024999
|
|
NM_000057.4(BLM):c.1592A>C (p.Lys531Thr)
|
rs1895966276
|
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
NM_000057.4(BLM):c.2323A>G (p.Arg775Gly)
|
rs2151165680
|
|
NM_000057.4(BLM):c.2522T>C (p.Ile841Thr)
|
rs767086502
|
|
NM_000057.4(BLM):c.2690C>G (p.Ser897Cys)
|
rs750600011
|
|
NM_000057.4(BLM):c.2824-1066del
|
rs1567055836
|
|
NM_000057.4(BLM):c.3005_3019del (p.Lys1002_Met1006del)
|
|
|
NM_000057.4(BLM):c.3047G>C (p.Arg1016Thr)
|
rs2151187181
|
|
NM_000057.4(BLM):c.380C>A (p.Thr127Asn)
|
rs1895613545
|
|
NM_000059.3(BRCA2):c.7241_7242inv (p.Ser2414Leu)
|
|
|
NM_000059.4(BRCA2):c.-18G>C
|
rs1593880555
|
|
NM_000059.4(BRCA2):c.10061del (p.Ser3354fs)
|
rs2073055112
|
|
NM_000059.4(BRCA2):c.10070C>G (p.Thr3357Arg)
|
rs80358388
|
|
NM_000059.4(BRCA2):c.10082A>C (p.Gln3361Pro)
|
rs751250810
|
|
NM_000059.4(BRCA2):c.10131A>C (p.Glu3377Asp)
|
rs1064793835
|
|
NM_000059.4(BRCA2):c.10132G>A (p.Asp3378Asn)
|
rs1593202359
|
|
NM_000059.4(BRCA2):c.10151G>A (p.Arg3384Gln)
|
rs80358397
|
|
NM_000059.4(BRCA2):c.10160C>G (p.Thr3387Ser)
|
rs863224584
|
|
NM_000059.4(BRCA2):c.10166C>T (p.Ser3389Phe)
|
rs431825279
|
|
NM_000059.4(BRCA2):c.10187G>A (p.Ser3396Asn)
|
rs889208749
|
|
NM_000059.4(BRCA2):c.10192C>T (p.Gln3398Ter)
|
rs1566261530
|
|
NM_000059.4(BRCA2):c.10211G>A (p.Cys3404Tyr)
|
rs587782614
|
|
NM_000059.4(BRCA2):c.10212_10213del (p.Cys3404_Glu3405delinsTer)
|
rs876660845
|
|
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser)
|
rs80358401
|
|
NM_000059.4(BRCA2):c.10225C>T (p.Gln3409Ter)
|
rs2137667834
|
|
NM_000059.4(BRCA2):c.10250A>G (p.Tyr3417Cys)
|
rs730881600
|
|
NM_000059.4(BRCA2):c.1058C>T (p.Ser353Leu)
|
rs769368098
|
|
NM_000059.4(BRCA2):c.1063G>C (p.Val355Leu)
|
rs2072403612
|
|
NM_000059.4(BRCA2):c.1066T>A (p.Ser356Thr)
|
rs398122722
|
|
NM_000059.4(BRCA2):c.1127T>G (p.Phe376Cys)
|
rs80358410
|
|
NM_000059.4(BRCA2):c.1216_1219delinsACCG (p.Ala406_Gln407delinsThrGlu)
|
rs886037742
|
|
NM_000059.4(BRCA2):c.1232T>C (p.Ile411Thr)
|
rs79597821
|
|
NM_000059.4(BRCA2):c.1235C>T (p.Pro412Leu)
|
rs876659628
|
|
NM_000059.4(BRCA2):c.128A>G (p.Asn43Ser)
|
rs2072285447
|
|
NM_000059.4(BRCA2):c.1317T>G (p.Phe439Leu)
|
rs1555281834
|
|
NM_000059.4(BRCA2):c.1322C>T (p.Thr441Ile)
|
rs1064793062
|
|
NM_000059.4(BRCA2):c.1354C>A (p.Leu452Ile)
|
rs80358424
|
|
NM_000059.4(BRCA2):c.1378A>C (p.Asn460His)
|
rs1270441968
|
|
NM_000059.4(BRCA2):c.1388C>G (p.Thr463Arg)
|
rs151011453
|
|
NM_000059.4(BRCA2):c.1424A>T (p.Glu475Val)
|
rs1213277350
|
|
NM_000059.4(BRCA2):c.1454A>G (p.Lys485Arg)
|
rs1593892915
|
|
NM_000059.4(BRCA2):c.1478C>T (p.Pro493Leu)
|
rs786202916
|
|
NM_000059.4(BRCA2):c.1483G>C (p.Ala495Pro)
|
rs80358437
|
|
NM_000059.4(BRCA2):c.1511C>G (p.Ser504Cys)
|
rs886037807
|
|
NM_000059.4(BRCA2):c.1553C>G (p.Ala518Gly)
|
rs2072416288
|
|
NM_000059.4(BRCA2):c.1627C>A (p.His543Asn)
|
rs80358446
|
|
NM_000059.4(BRCA2):c.1627C>T (p.His543Tyr)
|
rs80358446
|
|
NM_000059.4(BRCA2):c.1630A>G (p.Thr544Ala)
|
rs80358447
|
|
NM_000059.4(BRCA2):c.1655C>A (p.Ser552Tyr)
|
rs1566224045
|
|
NM_000059.4(BRCA2):c.1660T>C (p.Cys554Arg)
|
rs786202149
|
|
NM_000059.4(BRCA2):c.1666A>G (p.Asn556Asp)
|
rs587781794
|
|
NM_000059.4(BRCA2):c.1668T>G (p.Asn556Lys)
|
|
|
NM_000059.4(BRCA2):c.1718C>G (p.Ala573Gly)
|
rs1262187089
|
|
NM_000059.4(BRCA2):c.1728T>A (p.Asn576Lys)
|
rs1555282035
|
|
NM_000059.4(BRCA2):c.1756A>G (p.Lys586Glu)
|
rs397507275
|
|
NM_000059.4(BRCA2):c.1820A>G (p.Lys607Arg)
|
rs55962656
|
|
NM_000059.4(BRCA2):c.1825C>G (p.Gln609Glu)
|
rs80358472
|
|
NM_000059.4(BRCA2):c.1826A>G (p.Gln609Arg)
|
rs80358473
|
|
NM_000059.4(BRCA2):c.1841T>C (p.Ile614Thr)
|
rs1566224476
|
|
NM_000059.4(BRCA2):c.1861_1863delinsAGC (p.Glu621Ser)
|
rs2072424315
|
|
NM_000059.4(BRCA2):c.1865C>A (p.Ala622Glu)
|
rs80358477
|
|
NM_000059.4(BRCA2):c.1876G>A (p.Glu626Lys)
|
rs1566224551
|
|
NM_000059.4(BRCA2):c.1882C>T (p.Pro628Ser)
|
rs1163156807
|
|
NM_000059.4(BRCA2):c.1895C>G (p.Ala632Gly)
|
rs876659192
|
|
NM_000059.4(BRCA2):c.1909+11_1909+12insA
|
rs2072425470
|
|
NM_000059.4(BRCA2):c.1909+9G>T
|
rs794726969
|
|
NM_000059.4(BRCA2):c.1910-7del
|
rs2137481686
|
|
NM_000059.4(BRCA2):c.194C>T (p.Pro65Leu)
|
rs1566215861
|
|
NM_000059.4(BRCA2):c.1971G>T (p.Leu657Phe)
|
|
|
NM_000059.4(BRCA2):c.200G>C (p.Arg67Thr)
|
rs1239929428
|
|
NM_000059.4(BRCA2):c.2042T>C (p.Val681Ala)
|
rs1039304689
|
|
NM_000059.4(BRCA2):c.2044A>C (p.Ile682Leu)
|
rs398122738
|
|
NM_000059.4(BRCA2):c.205C>A (p.Pro69Thr)
|
rs876658614
|
|
NM_000059.4(BRCA2):c.2077T>C (p.Cys693Arg)
|
rs878853558
|
|
NM_000059.4(BRCA2):c.2091A>C (p.Lys697Asn)
|
rs876659230
|
|
NM_000059.4(BRCA2):c.2097G>T (p.Gln699His)
|
rs80358486
|
|
NM_000059.4(BRCA2):c.2119G>A (p.Asp707Asn)
|
rs80358487
|
|
NM_000059.4(BRCA2):c.2131T>C (p.Cys711Arg)
|
|
|
NM_000059.4(BRCA2):c.2197G>A (p.Val733Ile)
|
rs876658303
|
|
NM_000059.4(BRCA2):c.2206G>A (p.Ala736Thr)
|
rs730881513
|
|
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly)
|
rs397507283
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
NM_000059.4(BRCA2):c.2300G>C (p.Ser767Thr)
|
|
|
NM_000059.4(BRCA2):c.2308A>G (p.Ile770Val)
|
rs1593896607
|
|
NM_000059.4(BRCA2):c.230C>G (p.Thr77Ser)
|
rs1003162870
|
|
NM_000059.4(BRCA2):c.2333T>C (p.Val778Ala)
|
rs1064793704
|
|
NM_000059.4(BRCA2):c.2341A>C (p.Asn781His)
|
rs587782485
|
|
NM_000059.4(BRCA2):c.2345T>G (p.Leu782Arg)
|
rs876661019
|
|
NM_000059.4(BRCA2):c.2361A>C (p.Arg787Ser)
|
|
|
NM_000059.4(BRCA2):c.2362G>A (p.Gly788Ser)
|
rs1060502434
|
|
NM_000059.4(BRCA2):c.2389A>C (p.Lys797Gln)
|
rs587782737
|
|
NM_000059.4(BRCA2):c.2390A>G (p.Lys797Arg)
|
rs2072456610
|
|
NM_000059.4(BRCA2):c.2418T>G (p.Asp806Glu)
|
rs1131692107
|
|
NM_000059.4(BRCA2):c.2419G>A (p.Val807Ile)
|
rs2137486258
|
|
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)
|
rs80358507
|
|
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)
|
rs80358512
|
|
NM_000059.4(BRCA2):c.2474A>G (p.Asn825Ser)
|
rs1593897016
|
|
NM_000059.4(BRCA2):c.2476G>A (p.Glu826Lys)
|
rs1566226803
|
|
NM_000059.4(BRCA2):c.2480A>G (p.Asn827Ser)
|
rs1566226814
|
|
NM_000059.4(BRCA2):c.2485A>G (p.Lys829Glu)
|
rs1270048702
|
|
NM_000059.4(BRCA2):c.249G>C (p.Glu83Asp)
|
rs1442324599
|
|
NM_000059.4(BRCA2):c.24_25delinsTT (p.Arg8_Pro9delinsSerSer)
|
|
|
NM_000059.4(BRCA2):c.2515T>C (p.Tyr839His)
|
rs587778125
|
|
NM_000059.4(BRCA2):c.2522G>A (p.Arg841Lys)
|
rs587781915
|
|
NM_000059.4(BRCA2):c.2528C>T (p.Ala843Val)
|
rs80358517
|
|
NM_000059.4(BRCA2):c.2545G>T (p.Val849Leu)
|
rs786202105
|
|
NM_000059.4(BRCA2):c.2567A>G (p.Asn856Ser)
|
|
|
NM_000059.4(BRCA2):c.2580C>G (p.Ile860Met)
|
rs1593897261
|
|
NM_000059.4(BRCA2):c.2585A>G (p.Lys862Arg)
|
rs876659257
|
|
NM_000059.4(BRCA2):c.2600C>G (p.Thr867Ser)
|
rs2072460919
|
|
NM_000059.4(BRCA2):c.2629C>G (p.Pro877Ala)
|
rs80358524
|
|
NM_000059.4(BRCA2):c.2633A>G (p.Asp878Gly)
|
rs765618026
|
|
NM_000059.4(BRCA2):c.2656A>C (p.Asn886His)
|
|
|
NM_000059.4(BRCA2):c.2672T>A (p.Val891Asp)
|
rs1593897497
|
|
NM_000059.4(BRCA2):c.2679A>G (p.Gln893=)
|
rs786203640
|
|
NM_000059.4(BRCA2):c.2683G>A (p.Ala895Thr)
|
rs786203045
|
|
NM_000059.4(BRCA2):c.2705C>T (p.Ala902Val)
|
rs749258007
|
|
NM_000059.4(BRCA2):c.2714A>G (p.Asn905Ser)
|
rs730881515
|
|
NM_000059.4(BRCA2):c.2749G>A (p.Val917Ile)
|
rs1555282822
|
|
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val)
|
rs786201837
|
|
NM_000059.4(BRCA2):c.2819A>G (p.Gln940Arg)
|
rs1057520249
|
|
NM_000059.4(BRCA2):c.2843T>C (p.Val948Ala)
|
rs730881517
|
|
NM_000059.4(BRCA2):c.2892A>T (p.Lys964Asn)
|
rs587778119
|
|
NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala)
|
rs786203080
|
|
NM_000059.4(BRCA2):c.2922C>G (p.Asp974Glu)
|
rs929538989
|
|
NM_000059.4(BRCA2):c.2938G>T (p.Asp980Tyr)
|
rs397507298
|
|
NM_000059.4(BRCA2):c.2942A>G (p.Lys981Arg)
|
rs398122757
|
|
NM_000059.4(BRCA2):c.2968A>G (p.Met990Val)
|
rs876660083
|
|
NM_000059.4(BRCA2):c.2998A>C (p.Ile1000Leu)
|
rs1555282999
|
|
NM_000059.4(BRCA2):c.3043A>G (p.Lys1015Glu)
|
|
|
NM_000059.4(BRCA2):c.3071T>C (p.Ile1024Thr)
|
rs764921920
|
|
NM_000059.4(BRCA2):c.3074AGA[3] (p.Lys1026dup)
|
rs1342774938
|
|
NM_000059.4(BRCA2):c.3116CTA[1] (p.Thr1040del)
|
rs1064795908
|
|
NM_000059.4(BRCA2):c.3122G>C (p.Ser1041Thr)
|
rs276174832
|
|
NM_000059.4(BRCA2):c.3154G>C (p.Ala1052Pro)
|
rs730881520
|
|
NM_000059.4(BRCA2):c.3169A>G (p.Lys1057Glu)
|
rs1566227924
|
|
NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg)
|
rs786201916
|
|
NM_000059.4(BRCA2):c.3185C>G (p.Pro1062Arg)
|
rs564316199
|
|
NM_000059.4(BRCA2):c.3193A>T (p.Ile1065Phe)
|
rs2137494162
|
|
NM_000059.4(BRCA2):c.3197A>G (p.Asn1066Ser)
|
rs762752733
|
|
NM_000059.4(BRCA2):c.3225T>G (p.Ser1075Arg)
|
rs779228375
|
|
NM_000059.4(BRCA2):c.3239A>T (p.Asp1080Val)
|
|
|
NM_000059.4(BRCA2):c.3242G>A (p.Cys1081Tyr)
|
rs752871893
|
|
NM_000059.4(BRCA2):c.325G>A (p.Val109Ile)
|
rs1359975493
|
|
NM_000059.4(BRCA2):c.3268A>G (p.Met1090Val)
|
rs398122760
|
|
NM_000059.4(BRCA2):c.3270G>C (p.Met1090Ile)
|
rs80358574
|
|
NM_000059.4(BRCA2):c.3321A>C (p.Gln1107His)
|
rs397507306
|
|
NM_000059.4(BRCA2):c.3322A>C (p.Lys1108Gln)
|
rs1555283169
|
|
NM_000059.4(BRCA2):c.3324G>T (p.Lys1108Asn)
|
rs1555283170
|
|
NM_000059.4(BRCA2):c.3381T>G (p.Phe1127Leu)
|
rs1057522933
|
|
NM_000059.4(BRCA2):c.3382A>G (p.Thr1128Ala)
|
rs730881523
|
|
NM_000059.4(BRCA2):c.3406A>G (p.Ile1136Val)
|
rs876658683
|
|
NM_000059.4(BRCA2):c.340C>T (p.His114Tyr)
|
rs587778129
|
|
NM_000059.4(BRCA2):c.341A>C (p.His114Pro)
|
rs80358586
|
|
NM_000059.4(BRCA2):c.3422C>T (p.Thr1141Ile)
|
rs397507308
|
|
NM_000059.4(BRCA2):c.3437A>G (p.Glu1146Gly)
|
rs80358588
|
|
NM_000059.4(BRCA2):c.3443A>G (p.Gln1148Arg)
|
rs200808363
|
|
NM_000059.4(BRCA2):c.344_349delinsCTA (p.Lys115_Leu117delinsThrIle)
|
rs2137446242
|
|
NM_000059.4(BRCA2):c.3458A>G (p.Lys1153Arg)
|
rs80358594
|
|
NM_000059.4(BRCA2):c.348T>G (p.Ser116Arg)
|
rs397507309
|
|
NM_000059.4(BRCA2):c.3503T>A (p.Met1168Lys)
|
rs80358598
|
|
NM_000059.4(BRCA2):c.3506A>C (p.Asn1169Thr)
|
rs1194031580
|
|
NM_000059.4(BRCA2):c.3506A>G (p.Asn1169Ser)
|
rs1194031580
|
|
NM_000059.4(BRCA2):c.3512C>T (p.Pro1171Leu)
|
rs1566228707
|
|
NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp)
|
rs80358600
|
|
NM_000059.4(BRCA2):c.3556G>A (p.Val1186Ile)
|
rs587782420
|
|
NM_000059.4(BRCA2):c.3578C>T (p.Ala1193Val)
|
rs431825310
|
|
NM_000059.4(BRCA2):c.3593A>C (p.Asn1198Thr)
|
rs780927790
|
|
NM_000059.4(BRCA2):c.3630T>G (p.Asp1210Glu)
|
rs786202991
|
|
NM_000059.4(BRCA2):c.3662C>A (p.Ser1221Tyr)
|
rs397507313
|
|
NM_000059.4(BRCA2):c.3676A>C (p.Lys1226Gln)
|
rs730881525
|
|
NM_000059.4(BRCA2):c.3728A>C (p.Asp1243Ala)
|
|
|
NM_000059.4(BRCA2):c.3755C>A (p.Ser1252Tyr)
|
rs1361496246
|
|
NM_000059.4(BRCA2):c.3762G>T (p.Glu1254Asp)
|
rs777028631
|
|
NM_000059.4(BRCA2):c.3784T>G (p.Ser1262Ala)
|
rs2072488451
|
|
NM_000059.4(BRCA2):c.3796C>T (p.His1266Tyr)
|
rs1566229153
|
|
NM_000059.4(BRCA2):c.3797A>G (p.His1266Arg)
|
rs1555283399
|
|
NM_000059.4(BRCA2):c.37G>A (p.Glu13Lys)
|
rs80358622
|
|
NM_000059.4(BRCA2):c.3807_3808inv (p.Val1270Ile)
|
|
|
NM_000059.4(BRCA2):c.3816G>A (p.Met1272Ile)
|
rs1469541725
|
|
NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr)
|
rs80358625
|
|
NM_000059.4(BRCA2):c.3826G>A (p.Glu1276Lys)
|
rs878853575
|
|
NM_000059.4(BRCA2):c.3833A>G (p.His1278Arg)
|
rs1566229217
|
|
NM_000059.4(BRCA2):c.383A>G (p.Asp128Gly)
|
rs80358627
|
|
NM_000059.4(BRCA2):c.3852T>A (p.Ser1284Arg)
|
rs777895333
|
|
NM_000059.4(BRCA2):c.3861TAA[1] (p.Asn1288del)
|
rs276174837
|
|
NM_000059.4(BRCA2):c.3887A>G (p.Asn1296Ser)
|
|
|
NM_000059.4(BRCA2):c.3900G>A (p.Met1300Ile)
|
rs876659209
|
|
NM_000059.4(BRCA2):c.3902C>T (p.Thr1301Ile)
|
rs1455648880
|
|
NM_000059.4(BRCA2):c.3922G>A (p.Glu1308Lys)
|
rs80358638
|
|
NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser)
|
rs398122773
|
|
NM_000059.4(BRCA2):c.3958_3963del (p.Glu1320_Asp1321del)
|
rs2137501543
|
|
NM_000059.4(BRCA2):c.3964A>G (p.Asn1322Asp)
|
rs879255449
|
|
NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr)
|
rs80358646
|
|
NM_000059.4(BRCA2):c.3966_3968del (p.Asn1322del)
|
rs397507319
|
|
NM_000059.4(BRCA2):c.3970T>C (p.Tyr1324His)
|
rs879254067
|
|
NM_000059.4(BRCA2):c.4019A>T (p.Asp1340Val)
|
rs1555283506
|
|
NM_000059.4(BRCA2):c.4037_4043delinsT (p.Thr1346_Cys1348delinsIle)
|
rs276174841
|
|
NM_000059.4(BRCA2):c.4070T>G (p.Leu1357Arg)
|
rs55796504
|
|
NM_000059.4(BRCA2):c.4081C>G (p.Gln1361Glu)
|
rs587780652
|
|
NM_000059.4(BRCA2):c.4085A>T (p.His1362Leu)
|
rs1060502441
|
|
NM_000059.4(BRCA2):c.4089C>A (p.Asn1363Lys)
|
rs80359787
|
|
NM_000059.4(BRCA2):c.4093T>C (p.Cys1365Arg)
|
rs2137502841
|
|
NM_000059.4(BRCA2):c.4109G>C (p.Gly1370Ala)
|
rs587781406
|
|
NM_000059.4(BRCA2):c.4120A>G (p.Lys1374Glu)
|
rs864622126
|
|
NM_000059.4(BRCA2):c.4141_4143del (p.Lys1381del)
|
rs587782157
|
|
NM_000059.4(BRCA2):c.4156_4157delinsTG (p.Asp1386Cys)
|
rs2072497730
|
|
NM_000059.4(BRCA2):c.4165T>G (p.Phe1389Val)
|
rs1409088355
|
|
NM_000059.4(BRCA2):c.4184C>T (p.Ala1395Val)
|
rs1782230124
|
|
NM_000059.4(BRCA2):c.4189G>A (p.Glu1397Lys)
|
rs28897726
|
|
NM_000059.4(BRCA2):c.4190A>C (p.Glu1397Ala)
|
rs1566229868
|
|
NM_000059.4(BRCA2):c.4193C>T (p.Ala1398Val)
|
rs2072498593
|
|
NM_000059.4(BRCA2):c.41T>A (p.Ile14Asn)
|
rs1241704385
|
|
NM_000059.4(BRCA2):c.4243G>C (p.Glu1415Gln)
|
rs397507327
|
|
NM_000059.4(BRCA2):c.425+7_425+8insCATA
|
rs1593886125
|
|
NM_000059.4(BRCA2):c.4254A>G (p.Ile1418Met)
|
rs1064793378
|
|
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile)
|
rs397507713
|
|
NM_000059.4(BRCA2):c.426-12_426-8del
|
rs276174844
|
|
NM_000059.4(BRCA2):c.426-20T>G
|
rs1064795008
|
|
NM_000059.4(BRCA2):c.4274A>G (p.Asp1425Gly)
|
rs398122780
|
|
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr)
|
rs1403318277
|
|
NM_000059.4(BRCA2):c.4320A>C (p.Lys1440Asn)
|
rs769535925
|
|
NM_000059.4(BRCA2):c.4354C>G (p.Gln1452Glu)
|
rs431825319
|
|
NM_000059.4(BRCA2):c.4373A>G (p.His1458Arg)
|
rs587782185
|
|
NM_000059.4(BRCA2):c.4377C>G (p.Asn1459Lys)
|
rs80358673
|
|
NM_000059.4(BRCA2):c.437T>C (p.Leu146Pro)
|
rs539929888
|
|
NM_000059.4(BRCA2):c.4408A>G (p.Ile1470Val)
|
rs2137506004
|
|
NM_000059.4(BRCA2):c.440A>T (p.Gln147Leu)
|
rs80358674
|
|
NM_000059.4(BRCA2):c.4417A>G (p.Asn1473Asp)
|
rs80358675
|
|
NM_000059.4(BRCA2):c.443G>A (p.Cys148Tyr)
|
rs1204909245
|
|
NM_000059.4(BRCA2):c.4446_4451dup (p.Glu1482_Thr1483dup)
|
rs863224826
|
|
NM_000059.4(BRCA2):c.4464C>A (p.His1488Gln)
|
rs786203743
|
|
NM_000059.4(BRCA2):c.44_45insATT (p.Ile14_Phe15insLeu)
|
rs80359445
|
|
NM_000059.4(BRCA2):c.455C>A (p.Thr152Lys)
|
rs80358691
|
|
NM_000059.4(BRCA2):c.4584C>G (p.Ser1528Arg)
|
rs80359788
|
|
NM_000059.4(BRCA2):c.4612T>A (p.Ser1538Thr)
|
rs1566230812
|
|
NM_000059.4(BRCA2):c.4624G>A (p.Val1542Met)
|
rs28897729
|
|
NM_000059.4(BRCA2):c.4631A>G (p.Asn1544Ser)
|
rs587782753
|
|
NM_000059.4(BRCA2):c.4646A>T (p.Lys1549Ile)
|
|
|
NM_000059.4(BRCA2):c.465A>T (p.Arg155Ser)
|
rs1228857437
|
|
NM_000059.4(BRCA2):c.4670C>T (p.Thr1557Ile)
|
rs80358698
|
|
NM_000059.4(BRCA2):c.4723G>A (p.Asp1575Asn)
|
rs587782013
|
|
NM_000059.4(BRCA2):c.4727T>C (p.Leu1576Pro)
|
rs2072511723
|
|
NM_000059.4(BRCA2):c.4736C>T (p.Ala1579Val)
|
rs1555283920
|
|
NM_000059.4(BRCA2):c.476-3C>T
|
rs371431745
|
|
NM_000059.4(BRCA2):c.476-8A>G
|
rs1311844326
|
|
NM_000059.4(BRCA2):c.4801_4803del (p.Asp1601del)
|
rs730881609
|
|
NM_000059.4(BRCA2):c.4849A>C (p.Ser1617Arg)
|
rs80358707
|
|
NM_000059.4(BRCA2):c.4856A>G (p.Asn1619Ser)
|
rs80358709
|
|
NM_000059.4(BRCA2):c.4879C>A (p.Leu1627Ile)
|
rs2137511207
|
|
NM_000059.4(BRCA2):c.4933_4935del (p.Lys1645del)
|
rs80359472
|
|
NM_000059.4(BRCA2):c.4940C>A (p.Thr1647Lys)
|
rs1593903891
|
|
NM_000059.4(BRCA2):c.4952C>G (p.Pro1651Arg)
|
rs565268514
|
|
NM_000059.4(BRCA2):c.4957A>G (p.Thr1653Ala)
|
rs587782186
|
|
NM_000059.4(BRCA2):c.4987G>A (p.Val1663Ile)
|
rs587781763
|
|
NM_000059.4(BRCA2):c.4997A>G (p.Asn1666Ser)
|
rs1344419982
|
|
NM_000059.4(BRCA2):c.5003C>T (p.Ala1668Val)
|
rs80358724
|
|
NM_000059.4(BRCA2):c.5009C>T (p.Ala1670Val)
|
rs1566231551
|
|
NM_000059.4(BRCA2):c.5024G>A (p.Cys1675Tyr)
|
|
|
NM_000059.4(BRCA2):c.502C>G (p.Pro168Ala)
|
rs80358726
|
|
NM_000059.4(BRCA2):c.5098G>A (p.Gly1700Ser)
|
rs80358733
|
|
NM_000059.4(BRCA2):c.5125G>C (p.Asp1709His)
|
rs398122792
|
|
NM_000059.4(BRCA2):c.5125G>T (p.Asp1709Tyr)
|
rs398122792
|
|
NM_000059.4(BRCA2):c.516+14del
|
rs1336445194
|
|
NM_000059.4(BRCA2):c.516+17G>T
|
rs765435155
|
|
NM_000059.4(BRCA2):c.517-16T>C
|
rs81002839
|
|
NM_000059.4(BRCA2):c.5171T>C (p.Ile1724Thr)
|
rs80358743
|
|
NM_000059.4(BRCA2):c.518G>A (p.Gly173Asp)
|
rs28897702
|
|
NM_000059.4(BRCA2):c.5191C>T (p.His1731Tyr)
|
rs80358745
|
|
NM_000059.4(BRCA2):c.5209G>A (p.Asp1737Asn)
|
|
|
NM_000059.4(BRCA2):c.520C>T (p.Arg174Cys)
|
rs41293469
|
|
NM_000059.4(BRCA2):c.5210A>T (p.Asp1737Val)
|
rs587778120
|
|
NM_000059.4(BRCA2):c.5266G>C (p.Val1756Leu)
|
rs876659138
|
|
NM_000059.4(BRCA2):c.5272_5286del (p.Asn1758_Tyr1762del)
|
rs758071261
|
|
NM_000059.4(BRCA2):c.5299_5307del (p.Lys1767_Asp1769del)
|
rs80359504
|
|
NM_000059.4(BRCA2):c.5319_5342del (p.Glu1773_Glu1780del)
|
rs1593905133
|
|
NM_000059.4(BRCA2):c.5335G>A (p.Val1779Ile)
|
rs431825329
|
|
NM_000059.4(BRCA2):c.5351A>T (p.Asn1784Ile)
|
|
|
NM_000059.4(BRCA2):c.5353A>G (p.Thr1785Ala)
|
rs786202394
|
|
NM_000059.4(BRCA2):c.5365A>G (p.Lys1789Glu)
|
rs587782240
|
|
NM_000059.4(BRCA2):c.5380G>C (p.Val1794Leu)
|
|
|
NM_000059.4(BRCA2):c.539T>C (p.Ile180Thr)
|
rs80358761
|
|
NM_000059.4(BRCA2):c.5411T>C (p.Val1804Ala)
|
rs370252983
|
|
NM_000059.4(BRCA2):c.5419G>C (p.Asp1807His)
|
|
|
NM_000059.4(BRCA2):c.5422A>G (p.Ile1808Val)
|
|
|
NM_000059.4(BRCA2):c.542C>T (p.Ser181Phe)
|
rs1555281052
|
|
NM_000059.4(BRCA2):c.5438T>C (p.Leu1813Pro)
|
rs398122532
|
|
NM_000059.4(BRCA2):c.5456C>T (p.Pro1819Leu)
|
rs876659214
|
|
NM_000059.4(BRCA2):c.5458T>C (p.Cys1820Arg)
|
rs1566232493
|
|
NM_000059.4(BRCA2):c.5458T>G (p.Cys1820Gly)
|
rs1566232493
|
|
NM_000059.4(BRCA2):c.5465A>T (p.Asn1822Ile)
|
rs587781580
|
|
NM_000059.4(BRCA2):c.5483A>G (p.Lys1828Arg)
|
rs879255459
|
|
NM_000059.4(BRCA2):c.548G>A (p.Ser183Asn)
|
rs863224593
|
|
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr)
|
rs587782007
|
|
NM_000059.4(BRCA2):c.5495C>G (p.Ser1832Cys)
|
rs138489917
|
|
NM_000059.4(BRCA2):c.5505T>G (p.Asn1835Lys)
|
rs80358772
|
|
NM_000059.4(BRCA2):c.5508T>G (p.Asn1836Lys)
|
rs80358774
|
|
NM_000059.4(BRCA2):c.551T>C (p.Leu184Pro)
|
rs80358775
|
|
NM_000059.4(BRCA2):c.553G>A (p.Gly185Arg)
|
rs2072349608
|
|
NM_000059.4(BRCA2):c.5596T>C (p.Phe1866Leu)
|
rs80358779
|
|
NM_000059.4(BRCA2):c.5625G>T (p.Lys1875Asn)
|
rs1316343192
|
|
NM_000059.4(BRCA2):c.5636A>G (p.Glu1879Gly)
|
rs398122536
|
|
NM_000059.4(BRCA2):c.5649A>C (p.Lys1883Asn)
|
rs80358787
|
|
NM_000059.4(BRCA2):c.5659A>G (p.Thr1887Ala)
|
rs786202618
|
|
NM_000059.4(BRCA2):c.5668A>G (p.Met1890Val)
|
rs80358793
|
|
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)
|
rs397507359
|
|
NM_000059.4(BRCA2):c.5674G>A (p.Gly1892Ser)
|
rs786203948
|
|
NM_000059.4(BRCA2):c.5678G>T (p.Cys1893Phe)
|
rs2072535635
|
|
NM_000059.4(BRCA2):c.5708T>C (p.Ile1903Thr)
|
rs149474191
|
|
NM_000059.4(BRCA2):c.5731G>A (p.Asp1911Asn)
|
rs2072537137
|
|
NM_000059.4(BRCA2):c.5737T>G (p.Cys1913Gly)
|
rs80358799
|
|
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)
|
rs431825334
|
|
NM_000059.4(BRCA2):c.5753A>T (p.His1918Leu)
|
|
|
NM_000059.4(BRCA2):c.575T>A (p.Met192Lys)
|
rs80358805
|
|
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr)
|
rs80358805
|
|
NM_000059.4(BRCA2):c.5821A>G (p.Lys1941Glu)
|
rs1555284411
|
|
NM_000059.4(BRCA2):c.5831A>C (p.Lys1944Thr)
|
rs2137521445
|
|
NM_000059.4(BRCA2):c.5839C>G (p.Pro1947Ala)
|
rs80358812
|
|
NM_000059.4(BRCA2):c.587G>T (p.Ser196Ile)
|
rs80358818
|
|
NM_000059.4(BRCA2):c.5945G>C (p.Ser1982Thr)
|
rs28897738
|
|
NM_000059.4(BRCA2):c.595G>C (p.Ala199Pro)
|
rs376582345
|
|
NM_000059.4(BRCA2):c.5989A>G (p.Arg1997Gly)
|
rs1555284492
|
|
NM_000059.4(BRCA2):c.6071A>G (p.Gln2024Arg)
|
rs80358845
|
|
NM_000059.4(BRCA2):c.6076A>C (p.Thr2026Pro)
|
rs587782249
|
|
NM_000059.4(BRCA2):c.6080G>A (p.Arg2027Lys)
|
rs431825337
|
|
NM_000059.4(BRCA2):c.6088A>G (p.Asn2030Asp)
|
rs1555284539
|
|
NM_000059.4(BRCA2):c.6121T>A (p.Ser2041Thr)
|
rs1160083526
|
|
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro)
|
rs80358852
|
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
rs80358854
|
|
NM_000059.4(BRCA2):c.6172T>C (p.Phe2058Leu)
|
rs80358857
|
|
NM_000059.4(BRCA2):c.6181G>A (p.Ala2061Thr)
|
rs1555284585
|
|
NM_000059.4(BRCA2):c.6210A>T (p.Glu2070Asp)
|
rs1555284596
|
|
NM_000059.4(BRCA2):c.6222C>G (p.His2074Gln)
|
rs1555284601
|
|
NM_000059.4(BRCA2):c.6235G>A (p.Val2079Met)
|
|
|
NM_000059.4(BRCA2):c.6238T>G (p.Leu2080Val)
|
rs876658993
|
|
NM_000059.4(BRCA2):c.6242A>C (p.Glu2081Ala)
|
rs1593907983
|
|
NM_000059.4(BRCA2):c.6269A>G (p.His2090Arg)
|
rs397507366
|
|
NM_000059.4(BRCA2):c.631+7A>G
|
rs431825339
|
|
NM_000059.4(BRCA2):c.6315A>G (p.Ile2105Met)
|
rs398122552
|
|
NM_000059.4(BRCA2):c.6323G>T (p.Arg2108Leu)
|
rs35029074
|
|
NM_000059.4(BRCA2):c.6328G>C (p.Asp2110His)
|
rs1593908267
|
|
NM_000059.4(BRCA2):c.6411T>A (p.Asn2137Lys)
|
rs878853597
|
|
NM_000059.4(BRCA2):c.6415_6416delinsAT (p.Glu2139Ile)
|
rs1064795067
|
|
NM_000059.4(BRCA2):c.6416A>C (p.Glu2139Ala)
|
rs751071709
|
|
NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del)
|
rs80359588
|
|
NM_000059.4(BRCA2):c.6469C>G (p.Gln2157Glu)
|
rs397507859
|
|
NM_000059.4(BRCA2):c.6513_6514delinsCG (p.Ser2172Ala)
|
rs1064794089
|
|
NM_000059.4(BRCA2):c.6521T>C (p.Val2174Ala)
|
rs876659448
|
|
NM_000059.4(BRCA2):c.6553G>C (p.Ala2185Pro)
|
rs746070652
|
|
NM_000059.4(BRCA2):c.6562A>G (p.Lys2188Glu)
|
rs1135401833
|
|
NM_000059.4(BRCA2):c.6568G>A (p.Val2190Ile)
|
rs80358888
|
|
NM_000059.4(BRCA2):c.6568G>T (p.Val2190Leu)
|
rs80358888
|
|
NM_000059.4(BRCA2):c.6611C>A (p.Pro2204His)
|
rs1555284771
|
|
NM_000059.4(BRCA2):c.6614T>G (p.Val2205Gly)
|
rs730881546
|
|
NM_000059.4(BRCA2):c.6627A>G (p.Ile2209Met)
|
rs147275663
|
|
NM_000059.4(BRCA2):c.6679G>A (p.Ala2227Thr)
|
rs431825345
|
|
NM_000059.4(BRCA2):c.6691_6692delinsTT (p.Ala2231Phe)
|
rs1057517557
|
|
NM_000059.4(BRCA2):c.6698C>G (p.Ala2233Gly)
|
rs41293501
|
|
NM_000059.4(BRCA2):c.6711TGA[1] (p.Asp2238del)
|
rs786202738
|
|
NM_000059.4(BRCA2):c.6741T>A (p.Ser2247Arg)
|
rs80358898
|
|
NM_000059.4(BRCA2):c.6761T>A (p.Phe2254Tyr)
|
rs786202915
|
|
NM_000059.4(BRCA2):c.6787G>A (p.Val2263Ile)
|
rs1566235410
|
|
NM_000059.4(BRCA2):c.6792G>C (p.Leu2264Phe)
|
rs756182263
|
|
NM_000059.4(BRCA2):c.67G>C (p.Asp23His)
|
rs397507881
|
|
NM_000059.4(BRCA2):c.6805A>C (p.Ile2269Leu)
|
rs1300492434
|
|
NM_000059.4(BRCA2):c.681+6T>C
|
rs2072373896
|
|
NM_000059.4(BRCA2):c.682-13A>T
|
rs81002888
|
|
NM_000059.4(BRCA2):c.682-15C>T
|
rs864622084
|
|
NM_000059.4(BRCA2):c.6829C>T (p.Leu2277Phe)
|
rs786202214
|
|
NM_000059.4(BRCA2):c.6841G>A (p.Gly2281Arg)
|
rs1390926046
|
|
NM_000059.4(BRCA2):c.6842-14A>T
|
rs81002821
|
|
NM_000059.4(BRCA2):c.6842-20T>C
|
rs81002811
|
|
NM_000059.4(BRCA2):c.6842G>T (p.Gly2281Val)
|
rs80358908
|
|
NM_000059.4(BRCA2):c.6890T>C (p.Ile2297Thr)
|
rs1566236920
|
|
NM_000059.4(BRCA2):c.6916G>T (p.Ala2306Ser)
|
rs730881550
|
|
NM_000059.4(BRCA2):c.6922A>G (p.Lys2308Glu)
|
rs398122570
|
|
NM_000059.4(BRCA2):c.6923A>C (p.Lys2308Thr)
|
rs186810431
|
|
NM_000059.4(BRCA2):c.6937+11C>G
|
rs1330187616
|
|
NM_000059.4(BRCA2):c.6937+17A>T
|
rs1057522185
|
|
NM_000059.4(BRCA2):c.6937+8T>C
|
|
|
NM_000059.4(BRCA2):c.6938-13A>C
|
rs2072613692
|
|
NM_000059.4(BRCA2):c.6938-19T>C
|
rs2137541081
|
|
NM_000059.4(BRCA2):c.6956G>C (p.Arg2319Thr)
|
rs80358922
|
|
NM_000059.4(BRCA2):c.6959T>C (p.Leu2320Ser)
|
rs80358923
|
|
NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val)
|
rs876661032
|
|
NM_000059.4(BRCA2):c.7007+5G>A
|
rs81002816
|
|
NM_000059.4(BRCA2):c.7007+7_7007+8del
|
rs1555285373
|
|
NM_000059.4(BRCA2):c.7008-9C>T
|
rs186220967
|
|
NM_000059.4(BRCA2):c.7022G>T (p.Arg2341Leu)
|
rs786202839
|
|
NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln)
|
rs80358929
|
|
NM_000059.4(BRCA2):c.704A>G (p.Asn235Ser)
|
rs587780554
|
|
NM_000059.4(BRCA2):c.7051G>C (p.Ala2351Pro)
|
rs80358930
|
|
NM_000059.4(BRCA2):c.705T>G (p.Asn235Lys)
|
rs587781484
|
|
NM_000059.4(BRCA2):c.7067T>A (p.Phe2356Tyr)
|
rs587781844
|
|
NM_000059.4(BRCA2):c.7088A>G (p.Tyr2363Cys)
|
rs80358939
|
|
NM_000059.4(BRCA2):c.7095T>A (p.His2365Gln)
|
rs370708814
|
|
NM_000059.4(BRCA2):c.7166G>A (p.Arg2389Lys)
|
rs1302207132
|
|
NM_000059.4(BRCA2):c.7213G>C (p.Val2405Leu)
|
rs1555286046
|
|
NM_000059.4(BRCA2):c.7222C>A (p.Pro2408Thr)
|
rs398122577
|
|
NM_000059.4(BRCA2):c.7235C>T (p.Thr2412Ile)
|
rs397507384
|
|
NM_000059.4(BRCA2):c.7237A>G (p.Lys2413Glu)
|
rs1555286056
|
|
NM_000059.4(BRCA2):c.7256T>G (p.Val2419Gly)
|
|
|
NM_000059.4(BRCA2):c.7282T>G (p.Leu2428Val)
|
rs1057521856
|
|
NM_000059.4(BRCA2):c.7294A>G (p.Arg2432Gly)
|
rs1555286073
|
|
NM_000059.4(BRCA2):c.730G>T (p.Asp244Tyr)
|
rs80358956
|
|
NM_000059.4(BRCA2):c.7340A>T (p.Asn2447Ile)
|
rs763490852
|
|
NM_000059.4(BRCA2):c.7353C>A (p.Asp2451Glu)
|
|
|
NM_000059.4(BRCA2):c.7372A>C (p.Asn2458His)
|
rs1278943365
|
|
NM_000059.4(BRCA2):c.7415A>G (p.Lys2472Arg)
|
rs80358963
|
|
NM_000059.4(BRCA2):c.7418G>T (p.Cys2473Phe)
|
rs55924966
|
|
NM_000059.4(BRCA2):c.7429C>G (p.Pro2477Ala)
|
|
|
NM_000059.4(BRCA2):c.7434A>C (p.Leu2478Phe)
|
rs1593918707
|
|
NM_000059.4(BRCA2):c.7435+17del
|
rs1472572621
|
|
NM_000059.4(BRCA2):c.7435+18G>A
|
rs878853602
|
|
NM_000059.4(BRCA2):c.7436-20A>G
|
rs878853604
|
|
NM_000059.4(BRCA2):c.7499G>C (p.Arg2500Thr)
|
rs80358976
|
|
NM_000059.4(BRCA2):c.7505G>C (p.Arg2502Pro)
|
rs56070345
|
|
NM_000059.4(BRCA2):c.752C>G (p.Thr251Arg)
|
rs587781513
|
|
NM_000059.4(BRCA2):c.754G>C (p.Asp252His)
|
rs549269828
|
|
NM_000059.4(BRCA2):c.7550C>G (p.Thr2517Ser)
|
rs1555286277
|
|
NM_000059.4(BRCA2):c.7595C>A (p.Pro2532His)
|
rs967458408
|
|
NM_000059.4(BRCA2):c.7597T>A (p.Ser2533Thr)
|
rs786204150
|
|
NM_000059.4(BRCA2):c.7617+18A>G
|
rs2137563834
|
|
NM_000059.4(BRCA2):c.7618-16T>G
|
rs397507924
|
|
NM_000059.4(BRCA2):c.7618-18T>C
|
rs560091100
|
|
NM_000059.4(BRCA2):c.7622A>G (p.Tyr2541Cys)
|
rs1566242642
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
NM_000059.4(BRCA2):c.7630G>C (p.Gly2544Arg)
|
rs587781485
|
|
NM_000059.4(BRCA2):c.7682A>T (p.Gln2561Leu)
|
rs55647716
|
|
NM_000059.4(BRCA2):c.7686T>G (p.Phe2562Leu)
|
rs2137566775
|
|
NM_000059.4(BRCA2):c.7696G>T (p.Asp2566Tyr)
|
rs80358996
|
|
NM_000059.4(BRCA2):c.7723A>G (p.Thr2575Ala)
|
rs1064793308
|
|
NM_000059.4(BRCA2):c.7751G>A (p.Gly2584Asp)
|
rs80359001
|
|
NM_000059.4(BRCA2):c.776G>A (p.Arg259Lys)
|
rs1566221533
|
|
NM_000059.4(BRCA2):c.7772A>G (p.Asn2591Ser)
|
rs80359006
|
|
NM_000059.4(BRCA2):c.7783G>T (p.Ala2595Ser)
|
rs80359007
|
|
NM_000059.4(BRCA2):c.7828G>A (p.Val2610Met)
|
rs587780661
|
|
NM_000059.4(BRCA2):c.7874G>A (p.Arg2625Lys)
|
rs864622552
|
|
NM_000059.4(BRCA2):c.7880T>G (p.Ile2627Ser)
|
rs876658736
|
|
NM_000059.4(BRCA2):c.7891C>A (p.Leu2631Met)
|
rs876660528
|
|
NM_000059.4(BRCA2):c.7919A>G (p.Lys2640Arg)
|
rs397507394
|
|
NM_000059.4(BRCA2):c.7933A>G (p.Arg2645Gly)
|
rs876658889
|
|
NM_000059.4(BRCA2):c.7939C>G (p.Leu2647Val)
|
rs778391123
|
|
NM_000059.4(BRCA2):c.7976G>T (p.Arg2659Ile)
|
|
|
NM_000059.4(BRCA2):c.7977-4_7977-3del
|
rs876659992
|
|
NM_000059.4(BRCA2):c.7984A>G (p.Thr2662Ala)
|
rs1566245207
|
|
NM_000059.4(BRCA2):c.8100A>G (p.Ile2700Met)
|
rs1555286995
|
|
NM_000059.4(BRCA2):c.8114G>A (p.Ser2705Asn)
|
rs778806241
|
|
NM_000059.4(BRCA2):c.8116A>G (p.Asn2706Asp)
|
rs1196515495
|
|
NM_000059.4(BRCA2):c.812G>A (p.Gly271Glu)
|
rs1247032180
|
|
NM_000059.4(BRCA2):c.8141A>G (p.Gln2714Arg)
|
rs80359059
|
|
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu)
|
rs1060502432
|
|
NM_000059.4(BRCA2):c.8215G>T (p.Val2739Phe)
|
rs80359069
|
|
NM_000059.4(BRCA2):c.8225A>G (p.Asn2742Ser)
|
rs587782763
|
|
NM_000059.4(BRCA2):c.8246AGA[1] (p.Lys2750del)
|
rs80359703
|
|
NM_000059.4(BRCA2):c.8290G>A (p.Ala2764Thr)
|
rs786202189
|
|
NM_000059.4(BRCA2):c.8303T>A (p.Leu2768His)
|
rs587782732
|
|
NM_000059.4(BRCA2):c.8324T>C (p.Met2775Thr)
|
rs80359073
|
|
NM_000059.4(BRCA2):c.8324T>G (p.Met2775Arg)
|
rs80359073
|
|
NM_000059.4(BRCA2):c.832A>G (p.Ser278Gly)
|
rs2137465127
|
|
NM_000059.4(BRCA2):c.8331+16C>T
|
rs730881595
|
|
NM_000059.4(BRCA2):c.8332-2dup
|
rs2137596307
|
|
NM_000059.4(BRCA2):c.8353C>G (p.Pro2785Ala)
|
rs786202287
|
|
NM_000059.4(BRCA2):c.8354C>T (p.Pro2785Leu)
|
rs786202034
|
|
NM_000059.4(BRCA2):c.8366A>G (p.Tyr2789Cys)
|
rs398122603
|
|
NM_000059.4(BRCA2):c.8368A>G (p.Thr2790Ala)
|
rs80359081
|
|
NM_000059.4(BRCA2):c.8368A>T (p.Thr2790Ser)
|
rs80359081
|
|
NM_000059.4(BRCA2):c.8380T>A (p.Phe2794Ile)
|
rs1566248770
|
|
NM_000059.4(BRCA2):c.838A>G (p.Lys280Glu)
|
rs80359085
|
|
NM_000059.4(BRCA2):c.8393C>G (p.Pro2798Arg)
|
rs276174906
|
|
NM_000059.4(BRCA2):c.8419T>C (p.Ser2807Pro)
|
rs1555287637
|
|
NM_000059.4(BRCA2):c.8452G>T (p.Val2818Phe)
|
rs80359094
|
|
NM_000059.4(BRCA2):c.8455G>A (p.Asp2819Asn)
|
rs1479448614
|
|
NM_000059.4(BRCA2):c.8462T>C (p.Ile2821Thr)
|
rs80359096
|
|
NM_000059.4(BRCA2):c.8474C>T (p.Ala2825Val)
|
rs2072823455
|
|
NM_000059.4(BRCA2):c.8485C>A (p.Gln2829Lys)
|
rs80359099
|
|
NM_000059.4(BRCA2):c.8487+14T>A
|
rs767591414
|
|
NM_000059.4(BRCA2):c.8525G>T (p.Arg2842Leu)
|
rs80359105
|
|
NM_000059.4(BRCA2):c.8531A>C (p.Glu2844Ala)
|
rs900871740
|
|
NM_000059.4(BRCA2):c.8541A>C (p.Glu2847Asp)
|
rs1555287759
|
|
NM_000059.4(BRCA2):c.8588_8590dup (p.Glu2863dup)
|
rs730881616
|
|
NM_000059.4(BRCA2):c.860T>C (p.Met287Thr)
|
rs2072398884
|
|
NM_000059.4(BRCA2):c.8612A>C (p.Glu2871Ala)
|
rs1566249398
|
|
NM_000059.4(BRCA2):c.8632+12_8632+18delinsATATA
|
rs1555287796
|
|
NM_000059.4(BRCA2):c.8632+13A>G
|
rs1566249453
|
|
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys)
|
rs398122710
|
|
NM_000059.4(BRCA2):c.8632G>C (p.Glu2878Gln)
|
rs398122710
|
|
NM_000059.4(BRCA2):c.8633-11_8633-3del
|
rs2072873847
|
|
NM_000059.4(BRCA2):c.8633-17T>C
|
rs1566251324
|
|
NM_000059.4(BRCA2):c.8633-19_8633-17del
|
rs770871854
|
|
NM_000059.4(BRCA2):c.8633-3T>A
|
rs1283205861
|
|
NM_000059.4(BRCA2):c.8633-4T>A
|
rs397507407
|
|
NM_000059.4(BRCA2):c.8678A>G (p.Gln2893Arg)
|
rs1555288153
|
|
NM_000059.4(BRCA2):c.8678A>T (p.Gln2893Leu)
|
|
|
NM_000059.4(BRCA2):c.8690C>G (p.Ala2897Gly)
|
rs1555288157
|
|
NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val)
|
rs398122712
|
|
NM_000059.4(BRCA2):c.8704G>A (p.Ala2902Thr)
|
rs1555288163
|
|
NM_000059.4(BRCA2):c.8735C>T (p.Ala2912Val)
|
rs2072876151
|
|
NM_000059.4(BRCA2):c.8744C>T (p.Ala2915Val)
|
rs1310128359
|
|
NM_000059.4(BRCA2):c.8754+18C>T
|
rs768949172
|
|
NM_000059.4(BRCA2):c.8767G>A (p.Glu2923Lys)
|
rs1334458965
|
|
NM_000059.4(BRCA2):c.8771A>G (p.Glu2924Gly)
|
rs876658844
|
|
NM_000059.4(BRCA2):c.8774A>G (p.Gln2925Arg)
|
rs80359135
|
|
NM_000059.4(BRCA2):c.8800C>A (p.Gln2934Lys)
|
rs2137619340
|
|
NM_000059.4(BRCA2):c.8808G>C (p.Leu2936Phe)
|
rs80359138
|
|
NM_000059.4(BRCA2):c.880G>A (p.Glu294Lys)
|
rs397508009
|
|
NM_000059.4(BRCA2):c.8825C>A (p.Ala2942Asp)
|
rs373227180
|
|
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val)
|
rs373227180
|
|
NM_000059.4(BRCA2):c.8834A>G (p.Gln2945Arg)
|
rs587781800
|
|
NM_000059.4(BRCA2):c.8878C>A (p.Gln2960Lys)
|
rs80359140
|
|
NM_000059.4(BRCA2):c.8891G>C (p.Arg2964Thr)
|
rs1555288392
|
|
NM_000059.4(BRCA2):c.8905G>T (p.Val2969Leu)
|
rs59004709
|
|
NM_000059.4(BRCA2):c.8923G>A (p.Val2975Ile)
|
rs1006688520
|
|
NM_000059.4(BRCA2):c.8928C>G (p.Ser2976Arg)
|
rs771267741
|
|
NM_000059.4(BRCA2):c.8952A>G (p.Ser2984=)
|
rs876660709
|
|
NM_000059.4(BRCA2):c.8953+5G>C
|
rs397508023
|
|
NM_000059.4(BRCA2):c.8953+8T>A
|
rs1566252871
|
|
NM_000059.4(BRCA2):c.8954-13T>C
|
rs398122717
|
|
NM_000059.4(BRCA2):c.8955T>C (p.Val2985=)
|
rs2072907140
|
|
NM_000059.4(BRCA2):c.8957T>C (p.Ile2986Thr)
|
rs431825372
|
|
NM_000059.4(BRCA2):c.8975_8976insTGATTT (p.Pro2992_Ser2993insAspLeu)
|
rs1566253060
|
|
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp)
|
rs397507416
|
|
NM_000059.4(BRCA2):c.901G>A (p.Asp301Asn)
|
rs1555281626
|
|
NM_000059.4(BRCA2):c.9032T>G (p.Leu3011Arg)
|
rs80359155
|
|
NM_000059.4(BRCA2):c.9037A>G (p.Thr3013Ala)
|
rs1555288470
|
|
NM_000059.4(BRCA2):c.9043A>G (p.Lys3015Glu)
|
rs587781497
|
|
NM_000059.4(BRCA2):c.9049A>G (p.Lys3017Glu)
|
rs1555288473
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
NM_000059.4(BRCA2):c.9061G>A (p.Glu3021Lys)
|
rs1182648647
|
|
NM_000059.4(BRCA2):c.9073A>G (p.Ile3025Val)
|
rs879255470
|
|
NM_000059.4(BRCA2):c.9089C>G (p.Thr3030Arg)
|
rs587781792
|
|
NM_000059.4(BRCA2):c.9097A>C (p.Thr3033Pro)
|
rs766308212
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
NM_000059.4(BRCA2):c.9117+12T>A
|
rs1212956665
|
|
NM_000059.4(BRCA2):c.9117G>C (p.Pro3039=)
|
rs28897756
|
|
NM_000059.4(BRCA2):c.9117G>T (p.Pro3039=)
|
rs28897756
|
|
NM_000059.4(BRCA2):c.9118-14T>C
|
rs81002815
|
|
NM_000059.4(BRCA2):c.9118-6C>T
|
rs81002890
|
|
NM_000059.4(BRCA2):c.9160C>T (p.Pro3054Ser)
|
rs786204070
|
|
NM_000059.4(BRCA2):c.9161C>T (p.Pro3054Leu)
|
rs80359172
|
|
NM_000059.4(BRCA2):c.9177A>C (p.Lys3059Asn)
|
rs201561974
|
|
NM_000059.4(BRCA2):c.9190G>T (p.Asp3064Tyr)
|
rs80359177
|
|
NM_000059.4(BRCA2):c.9215T>A (p.Val3072Glu)
|
rs80359185
|
|
NM_000059.4(BRCA2):c.9232G>T (p.Val3078Phe)
|
rs1593938201
|
|
NM_000059.4(BRCA2):c.9256+8A>G
|
rs1312250808
|
|
NM_000059.4(BRCA2):c.9257-10del
|
rs276174919
|
|
NM_000059.4(BRCA2):c.9257-12T>C
|
rs2137651662
|
|
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)
|
rs80359195
|
|
NM_000059.4(BRCA2):c.9302T>C (p.Leu3101Pro)
|
rs28897758
|
|
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg)
|
rs276174923
|
|
NM_000059.4(BRCA2):c.9347C>G (p.Pro3116Arg)
|
rs1220080934
|
|
NM_000059.4(BRCA2):c.9350A>G (p.His3117Arg)
|
rs80359206
|
|
NM_000059.4(BRCA2):c.9352A>C (p.Met3118Leu)
|
rs1566258951
|
|
NM_000059.4(BRCA2):c.9365C>T (p.Ala3122Val)
|
rs571971903
|
|
NM_000059.4(BRCA2):c.9371A>G (p.Asn3124Ser)
|
rs28897759
|
|
NM_000059.4(BRCA2):c.9409A>T (p.Thr3137Ser)
|
rs746036918
|
|
NM_000059.4(BRCA2):c.9542T>G (p.Met3181Arg)
|
rs80359225
|
|
NM_000059.4(BRCA2):c.9544C>T (p.His3182Tyr)
|
rs2073040551
|
|
NM_000059.4(BRCA2):c.9555T>G (p.His3185Gln)
|
rs1593200915
|
|
NM_000059.4(BRCA2):c.9577A>G (p.Thr3193Ala)
|
rs2073041117
|
|
NM_000059.4(BRCA2):c.9617A>C (p.Gln3206Pro)
|
rs397507433
|
|
NM_000059.4(BRCA2):c.9625C>A (p.Pro3209Thr)
|
|
|
NM_000059.4(BRCA2):c.9637A>G (p.Asn3213Asp)
|
rs80359235
|
|
NM_000059.4(BRCA2):c.9649-16T>G
|
rs2137662424
|
|
NM_000059.4(BRCA2):c.9649-17T>C
|
rs1566260726
|
|
NM_000059.4(BRCA2):c.9649-6del
|
rs276174929
|
|
NM_000059.4(BRCA2):c.9651G>A (p.Met3217Ile)
|
rs431825379
|
|
NM_000059.4(BRCA2):c.967G>A (p.Val323Ile)
|
rs1566222487
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
NM_000059.4(BRCA2):c.9700A>G (p.Met3234Val)
|
rs730881574
|
|
NM_000059.4(BRCA2):c.9710G>A (p.Arg3237Lys)
|
rs730881575
|
|
NM_000059.4(BRCA2):c.971G>A (p.Arg324Lys)
|
rs397507435
|
|
NM_000059.4(BRCA2):c.9748T>A (p.Ser3250Thr)
|
rs1173590589
|
|
NM_000059.4(BRCA2):c.9874C>G (p.Pro3292Ala)
|
rs876660917
|
|
NM_000059.4(BRCA2):c.9898C>T (p.Pro3300Ser)
|
rs770868371
|
|
NM_000059.4(BRCA2):c.9901C>T (p.Pro3301Ser)
|
rs1566261153
|
|
NM_000059.4(BRCA2):c.9906_9907delinsTT (p.Arg3302_Ser3303delinsSerCys)
|
rs876659538
|
|
NM_000059.4(BRCA2):c.9913G>A (p.Gly3305Ser)
|
rs587782859
|
|
NM_000059.4(BRCA2):c.9936A>G (p.Ile3312Met)
|
rs80359255
|
|
NM_000059.4(BRCA2):c.9944_9948del (p.Lys3315fs)
|
rs2137665218
|
|
NM_000059.4(BRCA2):c.9945del (p.Glu3316fs)
|
rs431825381
|
|
NM_000059.4(BRCA2):c.9956C>A (p.Ser3319Tyr)
|
|
|
NM_000059.4(BRCA2):c.9971C>T (p.Pro3324Leu)
|
rs1593202112
|
|
NM_000059.4(BRCA2):c.9981A>T (p.Lys3327Asn)
|
rs587782098
|
|
NM_000059.4(BRCA2):c.9989A>T (p.Glu3330Val)
|
rs2137665575
|
|
NM_000059.4(BRCA2):c.9997_9998del (p.Leu3333fs)
|
rs730881621
|
|
NM_000061.3(BTK):c.141+5G>C
|
rs1927165677
|
|
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser)
|
rs1057519825
|
|
NM_000061.3(BTK):c.1852A>G (p.Arg618Gly)
|
rs1569290824
|
|
NM_000061.3(BTK):c.294C>A (p.Phe98Leu)
|
rs1927036921
|
|
NM_000061.3(BTK):c.310-8C>A
|
rs150930053
|
|
NM_000064.4(C3):c.1769G>C (p.Gly590Ala)
|
|
|
NM_000064.4(C3):c.555G>C (p.Gln185His)
|
|
|
NM_000069.3(CACNA1S):c.1694T>A (p.Leu565Gln)
|
rs2102142533
|
|
NM_000069.3(CACNA1S):c.185T>C (p.Phe62Ser)
|
|
|
NM_000069.3(CACNA1S):c.2658-14T>C
|
|
|
NM_000069.3(CACNA1S):c.3256-13G>T
|
|
|
NM_000069.3(CACNA1S):c.3287G>T (p.Arg1096Leu)
|
rs142102094
|
|
NM_000069.3(CACNA1S):c.356G>A (p.Arg119His)
|
rs749588662
|
|
NM_000069.3(CACNA1S):c.3609+1G>A
|
|
|
NM_000069.3(CACNA1S):c.4786G>T (p.Gly1596Ter)
|
rs751048080
|
|
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)
|
rs550371466
|
|
NM_000070.3(CAPN3):c.1191C>G (p.Phe397Leu)
|
|
|
NM_000070.3(CAPN3):c.1336G>A (p.Gly446Ser)
|
rs886042857
|
|
NM_000070.3(CAPN3):c.1834A>C (p.Asn612His)
|
|
|
NM_000070.3(CAPN3):c.2184+21G>A
|
|
|
NM_000070.3(CAPN3):c.2443C>G (p.Leu815Val)
|
|
|
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr)
|
rs946415346
|
|
NM_000070.3(CAPN3):c.535G>A (p.Asp179Asn)
|
|
|
NM_000070.3(CAPN3):c.575C>G (p.Thr192Ser)
|
|
|
NM_000070.3(CAPN3):c.638A>G (p.His213Arg)
|
rs768447053
|
|
NM_000071.3(CBS):c.1039G>T (p.Gly347Cys)
|
|
|
NM_000071.3(CBS):c.1096G>A (p.Glu366Lys)
|
|
|
NM_000071.3(CBS):c.1346T>G (p.Val449Gly)
|
|
|
NM_000071.3(CBS):c.1471C>T (p.Arg491Cys)
|
|
|
NM_000071.3(CBS):c.233C>G (p.Pro78Arg)
|
rs786204608
|
|
NM_000071.3(CBS):c.241C>G (p.Leu81Val)
|
|
|
NM_000071.3(CBS):c.306G>C (p.Lys102Asn)
|
rs786204609
|
|
NM_000071.3(CBS):c.491G>A (p.Arg164His)
|
|
|
NM_000071.3(CBS):c.844C>T (p.Pro282Ser)
|
rs1057518515
|
|
NM_000071.3(CBS):c.[233C>G;306G>C]
|
|
|
NM_000073.3(CD3G):c.389_391delinsTCT (p.Ala130_Val131delinsValPhe)
|
rs1591284990
|
|
NM_000073.3(CD3G):c.431A>G (p.Gln144Arg)
|
rs2134070842
|
|
NM_000074.3(CD40LG):c.335A>G (p.Glu112Gly)
|
|
|
NM_000074.3(CD40LG):c.429A>C (p.Lys143Asn)
|
rs1569377744
|
|
NM_000075.4(CDK4):c.132_143del (p.Gly45_Gly48del)
|
rs749094206
|
|
NM_000075.4(CDK4):c.156C>G (p.Ser52Arg)
|
rs1955237401
|
|
NM_000075.4(CDK4):c.217C>T (p.Arg73Trp)
|
rs1437365423
|
|
NM_000075.4(CDK4):c.262A>C (p.Lys88Gln)
|
rs2140387459
|
|
NM_000075.4(CDK4):c.376A>G (p.Arg126Gly)
|
rs1565806573
|
|
NM_000075.4(CDK4):c.632A>C (p.Lys211Thr)
|
rs765656720
|
|
NM_000075.4(CDK4):c.719G>C (p.Arg240Pro)
|
rs531817742
|
|
NM_000075.4(CDK4):c.767C>T (p.Pro256Leu)
|
rs1234167326
|
|
NM_000077.5(CDKN2A):c.150G>T (p.Gln50His)
|
rs1057519882
|
|
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val)
|
rs372266620
|
|
NM_000077.5(CDKN2A):c.198C>G (p.His66Gln)
|
rs374984975
|
|
NM_000077.5(CDKN2A):c.203C>G (p.Ala68Gly)
|
rs1060501260
|
|
NM_000077.5(CDKN2A):c.249C>A (p.His83Gln)
|
rs34968276
|
|
NM_000077.5(CDKN2A):c.253G>T (p.Ala85Ser)
|
rs878853646
|
|
NM_000077.5(CDKN2A):c.361C>G (p.Leu121Val)
|
rs142371511
|
|
NM_000077.5(CDKN2A):c.388C>A (p.Leu130Met)
|
rs1060501261
|
|
NM_000077.5(CDKN2A):c.403G>A (p.Gly135Arg)
|
rs1819686306
|
|
NM_000077.5(CDKN2A):c.434T>C (p.Ile145Thr)
|
rs730881680
|
|
NM_000077.5(CDKN2A):c.461T>A (p.Ile154Asn)
|
rs1554653284
|
|
NM_000077.5(CDKN2A):c.61G>T (p.Ala21Ser)
|
rs1064793082
|
|
NM_000080.4(CHRNE):c.703ATC[1] (p.Ile236del)
|
rs2151097320
|
|
NM_000080.4(CHRNE):c.914_915delinsTT (p.Gly305Val)
|
|
|
NM_000081.4(LYST):c.1691C>T (p.Ala564Val)
|
|
|
NM_000081.4(LYST):c.18C>G (p.Asn6Lys)
|
|
|
NM_000081.4(LYST):c.2304C>G (p.Cys768Trp)
|
|
|
NM_000081.4(LYST):c.2442T>A (p.Ser814Arg)
|
|
|
NM_000081.4(LYST):c.2570C>G (p.Ser857Cys)
|
|
|
NM_000081.4(LYST):c.3256G>A (p.Glu1086Lys)
|
|
|
NM_000081.4(LYST):c.5620T>C (p.Phe1874Leu)
|
|
|
NM_000081.4(LYST):c.6331A>G (p.Thr2111Ala)
|
|
|
NM_000081.4(LYST):c.7957A>G (p.Arg2653Gly)
|
|
|
NM_000081.4(LYST):c.9315+6T>C
|
|
|
NM_000081.4(LYST):c.9488A>G (p.Tyr3163Cys)
|
|
|
NM_000082.4(ERCC8):c.435_440delinsCAG (p.His148del)
|
|
|
NM_000083.3(CLCN1):c.1106A>C (p.His369Pro)
|
|
|
NM_000083.3(CLCN1):c.1363A>T (p.Asn455Tyr)
|
|
|
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val)
|
rs2116373070
|
|
NM_000083.3(CLCN1):c.1879A>C (p.Thr627Pro)
|
|
|
NM_000083.3(CLCN1):c.2533G>A (p.Gly845Ser)
|
|
|
NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe)
|
rs121912810
|
|
NM_000083.3(CLCN1):c.685G>A (p.Val229Met)
|
rs761601545
|
|
NM_000083.3(CLCN1):c.696+6C>T
|
|
|
NM_000083.3(CLCN1):c.809G>A (p.Gly270Asp)
|
rs1490537212
|
|
NM_000085.5(CLCNKB):c.1306A>T (p.Ile436Phe)
|
rs200239825
|
|
NM_000085.5(CLCNKB):c.806C>G (p.Thr269Ser)
|
rs2124096004
|
|
NM_000088.4(COL1A1):c.2451+14C>A
|
|
|
NM_000088.4(COL1A1):c.35T>G (p.Leu12Arg)
|
rs1555575857
|
|
NM_000089.4(COL1A2):c.1886C>A (p.Ala629Asp)
|
|
|
NM_000089.4(COL1A2):c.2462_2464del (p.Pro821del)
|
|
|
NM_000089.4(COL1A2):c.2674-6G>C
|
rs771442891
|
|
NM_000089.4(COL1A2):c.2713G>T (p.Ala905Ser)
|
rs1344095248
|
|
NM_000090.4(COL3A1):c.1297G>A (p.Glu433Lys)
|
rs150670470
|
|
NM_000090.4(COL3A1):c.1450G>A (p.Glu484Lys)
|
rs1559056497
|
|
NM_000090.4(COL3A1):c.1509+7_1509+21del
|
rs781662866
|
|
NM_000090.4(COL3A1):c.1661C>T (p.Pro554Leu)
|
rs1688305869
|
|
NM_000090.4(COL3A1):c.2237C>G (p.Pro746Arg)
|
rs2153503064
|
|
NM_000090.4(COL3A1):c.2362C>T (p.Pro788Ser)
|
rs749803388
|
|
NM_000090.4(COL3A1):c.2500G>C (p.Gly834Arg)
|
rs2153503381
|
|
NM_000090.4(COL3A1):c.2607+14C>T
|
|
|
NM_000090.4(COL3A1):c.2950G>A (p.Gly984Arg)
|
rs2153503630
|
|
NM_000090.4(COL3A1):c.3201+20A>G
|
rs2153503735
|
|
NM_000090.4(COL3A1):c.334-11C>G
|
|
|
NM_000090.4(COL3A1):c.343G>T (p.Gly115Cys)
|
rs964468427
|
|
NM_000090.4(COL3A1):c.3740G>C (p.Ser1247Thr)
|
|
|
NM_000090.4(COL3A1):c.4205C>T (p.Ala1402Val)
|
|
|
NM_000090.4(COL3A1):c.448-6C>A
|
rs751856761
|
|
NM_000090.4(COL3A1):c.554C>G (p.Pro185Arg)
|
rs886038977
|
|
NM_000090.4(COL3A1):c.55A>G (p.Thr19Ala)
|
rs1300339107
|
|
NM_000090.4(COL3A1):c.716C>A (p.Pro239His)
|
rs1688155467
|
|
NM_000090.4(COL3A1):c.745-10T>C
|
rs1048016555
|
|
NM_000090.4(COL3A1):c.76G>C (p.Glu26Gln)
|
rs1687767912
|
|
NM_000090.4(COL3A1):c.79+7A>T
|
rs1687768235
|
|
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
|
|
|
NM_000091.5(COL4A3):c.1617A>C (p.Glu539Asp)
|
rs2071190170
|
|
NM_000091.5(COL4A3):c.1987C>G (p.Pro663Ala)
|
rs747891356
|
|
NM_000091.5(COL4A3):c.2189G>C (p.Gly730Ala)
|
|
|
NM_000091.5(COL4A3):c.2210T>A (p.Leu737His)
|
rs760719817
|
|
NM_000091.5(COL4A3):c.223C>A (p.Gln75Lys)
|
|
|
NM_000091.5(COL4A3):c.2434G>A (p.Gly812Ser)
|
|
|
NM_000091.5(COL4A3):c.2489-3C>T
|
|
|
NM_000091.5(COL4A3):c.2509C>A (p.Pro837Thr)
|
rs2106163548
|
|
NM_000091.5(COL4A3):c.2522C>T (p.Pro841Leu)
|
|
|
NM_000091.5(COL4A3):c.2657-6C>T
|
|
|
NM_000091.5(COL4A3):c.26C>T (p.Pro9Leu)
|
|
|
NM_000091.5(COL4A3):c.2714C>T (p.Pro905Leu)
|
|
|
NM_000091.5(COL4A3):c.2935G>A (p.Gly979Ser)
|
rs948395447
|
|
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])
|
rs756539994
|
|
NM_000091.5(COL4A3):c.3337+3A>G
|
|
|
NM_000091.5(COL4A3):c.3974G>T (p.Gly1325Val)
|
|
|
NM_000091.5(COL4A3):c.3989T>C (p.Ile1330Thr)
|
|
|
NM_000091.5(COL4A3):c.4213G>C (p.Ala1405Pro)
|
|
|
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg)
|
rs2073646176
|
|
NM_000091.5(COL4A3):c.4862C>T (p.Thr1621Met)
|
|
|
NM_000091.5(COL4A3):c.525G>T (p.Leu175Phe)
|
|
|
NM_000091.5(COL4A3):c.716G>C (p.Gly239Ala)
|
rs1574699782
|
|
NM_000091.5(COL4A3):c.86A>G (p.Lys29Arg)
|
rs999240932
|
|
NM_000092.5(COL4A4):c.-9T>C
|
|
|
NM_000092.5(COL4A4):c.1053C>A (p.His351Gln)
|
|
|
NM_000092.5(COL4A4):c.1629G>C (p.Lys543Asn)
|
|
|
NM_000092.5(COL4A4):c.16A>G (p.Ile6Val)
|
|
|
NM_000092.5(COL4A4):c.1738C>T (p.Pro580Ser)
|
|
|
NM_000092.5(COL4A4):c.2647C>T (p.Pro883Ser)
|
|
|
NM_000092.5(COL4A4):c.2932G>C (p.Gly978Arg)
|
|
|
NM_000092.5(COL4A4):c.3289+5A>G
|
|
|
NM_000092.5(COL4A4):c.3357G>C (p.Arg1119Ser)
|
|
|
NM_000092.5(COL4A4):c.3668C>T (p.Pro1223Leu)
|
|
|
NM_000092.5(COL4A4):c.3844G>T (p.Gly1282Trp)
|
rs777134408
|
|
NM_000092.5(COL4A4):c.3923C>G (p.Pro1308Arg)
|
|
|
NM_000092.5(COL4A4):c.3973+17G>A
|
|
|
NM_000092.5(COL4A4):c.4063G>A (p.Gly1355Arg)
|
rs1553624029
|
|
NM_000092.5(COL4A4):c.4067C>T (p.Pro1356Leu)
|
|
|
NM_000092.5(COL4A4):c.4315G>A (p.Gly1439Ser)
|
|
|
NM_000092.5(COL4A4):c.4851G>C (p.Met1617Ile)
|
|
|
NM_000092.5(COL4A4):c.953C>T (p.Ser318Phe)
|
|
|
NM_000093.5(COL5A1):c.1318A>C (p.Thr440Pro)
|
|
|
NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys)
|
rs754948598
|
|
NM_000093.5(COL5A1):c.2187+19G>A
|
|
|
NM_000093.5(COL5A1):c.2433T>C (p.Gly811=)
|
rs1554798918
|
|
NM_000093.5(COL5A1):c.2485-14T>C
|
|
|
NM_000093.5(COL5A1):c.277+15C>A
|
|
|
NM_000093.5(COL5A1):c.2998G>A (p.Gly1000Ser)
|
rs765082093
|
|
NM_000093.5(COL5A1):c.3608G>A (p.Arg1203Gln)
|
rs1838524385
|
|
NM_000093.5(COL5A1):c.401G>A (p.Arg134His)
|
rs1442400098
|
|
NM_000093.5(COL5A1):c.4392+18T>C
|
|
|
NM_000093.5(COL5A1):c.4994A>T (p.Asp1665Val)
|
|
|
NM_000093.5(COL5A1):c.539T>C (p.Ile180Thr)
|
|
|
NM_000094.4(COL7A1):c.1334G>A (p.Arg445Gln)
|
|
|
NM_000094.4(COL7A1):c.1612C>T (p.Arg538Cys)
|
|
|
NM_000094.4(COL7A1):c.2111T>A (p.Ile704Asn)
|
|
|
NM_000094.4(COL7A1):c.2239A>G (p.Thr747Ala)
|
|
|
NM_000094.4(COL7A1):c.2317C>A (p.Pro773Thr)
|
|
|
NM_000094.4(COL7A1):c.2333G>C (p.Arg778Pro)
|
|
|
NM_000094.4(COL7A1):c.2543T>G (p.Val848Gly)
|
|
|
NM_000094.4(COL7A1):c.256G>A (p.Asp86Asn)
|
|
|
NM_000094.4(COL7A1):c.2622C>A (p.His874Gln)
|
|
|
NM_000094.4(COL7A1):c.2697C>G (p.His899Gln)
|
|
|
NM_000094.4(COL7A1):c.4015G>C (p.Glu1339Gln)
|
|
|
NM_000094.4(COL7A1):c.4093G>T (p.Gly1365Trp)
|
|
|
NM_000094.4(COL7A1):c.4342-13G>A
|
|
|
NM_000094.4(COL7A1):c.4351G>A (p.Glu1451Lys)
|
|
|
NM_000094.4(COL7A1):c.4502G>C (p.Gly1501Ala)
|
|
|
NM_000094.4(COL7A1):c.4753C>T (p.Pro1585Ser)
|
|
|
NM_000094.4(COL7A1):c.4786C>T (p.Pro1596Ser)
|
|
|
NM_000094.4(COL7A1):c.5333A>T (p.Asp1778Val)
|
|
|
NM_000094.4(COL7A1):c.5630G>A (p.Arg1877His)
|
|
|
NM_000094.4(COL7A1):c.5878G>C (p.Val1960Leu)
|
|
|
NM_000094.4(COL7A1):c.6257C>T (p.Pro2086Leu)
|
|
|
NM_000094.4(COL7A1):c.6457-13C>T
|
|
|
NM_000094.4(COL7A1):c.6818G>A (p.Ser2273Asn)
|
|
|
NM_000094.4(COL7A1):c.6946G>A (p.Gly2316Arg)
|
rs1575430201
|
|
NM_000094.4(COL7A1):c.7420C>T (p.Arg2474Cys)
|
|
|
NM_000094.4(COL7A1):c.7758+15A>T
|
|
|
NM_000094.4(COL7A1):c.846+18A>G
|
|
|
NM_000094.4(COL7A1):c.846G>A (p.Glu282=)
|
rs770216458
|
|
NM_000094.4(COL7A1):c.8800G>T (p.Val2934Phe)
|
rs903839030
|
|
NM_000095.3(COMP):c.762+13G>T
|
|
|
NM_000096.4(CP):c.1123T>C (p.Tyr375His)
|
rs386134128
|
|
NM_000096.4(CP):c.1del (p.Met1*)
|
rs750317184
|
|
NM_000098.3(CPT2):c.1822G>C (p.Asp608His)
|
rs780286639
|
|
NM_000098.3(CPT2):c.49G>T (p.Gly17Cys)
|
rs2100254762
|
|
NM_000098.3(CPT2):c.764A>G (p.Asp255Gly)
|
rs199673903
|
|
NM_000101.4(CYBA):c.2T>C (p.Met1Thr)
|
|
|
NM_000101.4(CYBA):c.472_484del (p.Pro160fs)
|
rs1272232395
|
|
NM_000101.4(CYBA):c.521delinsCGGC (p.Val174delinsAlaAla)
|
|
|
NM_000101.4(CYBA):c.74G>A (p.Gly25Asp)
|
rs179363891
|
|
NM_000101.4(CYBA):c.74G>T (p.Gly25Val)
|
rs179363891
|
|
NM_000102.4(CYP17A1):c.337G>A (p.Ala113Thr)
|
|
|
NM_000102.4(CYP17A1):c.484G>A (p.Gly162Arg)
|
|
|
NM_000102.4(CYP17A1):c.644T>G (p.Val215Gly)
|
rs1428700861
|
|
NM_000102.4(CYP17A1):c.776T>C (p.Ile259Thr)
|
rs1449519548
|
|
NM_000103.4(CYP19A1):c.1093C>T (p.Arg365Trp)
|
|
|
NM_000104.4(CYP1B1):c.1309C>G (p.Pro437Ala)
|
|
|
NM_000104.4(CYP1B1):c.284T>C (p.Val95Ala)
|
|
|
NM_000104.4(CYP1B1):c.31T>C (p.Trp11Arg)
|
|
|
NM_000104.4(CYP1B1):c.343G>C (p.Ala115Pro)
|
|
|
NM_000104.4(CYP1B1):c.350G>A (p.Arg117Gln)
|
rs1450783755
|
|
NM_000104.4(CYP1B1):c.732G>T (p.Met244Ile)
|
|
|
NM_000104.4(CYP1B1):c.883G>A (p.Ala295Thr)
|
rs772259541
|
|
NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu)
|
rs72549382
|
|
NM_000107.3(DDB2):c.702+4C>T
|
|
|
NM_000110.4(DPYD):c.1537G>C (p.Ala513Pro)
|
|
|
NM_000110.4(DPYD):c.2907+9C>G
|
|
|
NM_000110.4(DPYD):c.3040_3041del (p.Lys1014fs)
|
|
|
NM_000110.4(DPYD):c.3067C>T (p.Pro1023Ser)
|
rs114096998
|
|
NM_000110.4(DPYD):c.39+4C>G
|
|
|
NM_000110.4(DPYD):c.623G>A (p.Arg208Gln)
|
|
|
NM_000110.4(DPYD):c.710C>T (p.Pro237Leu)
|
|
|
NM_000110.4(DPYD):c.731A>C (p.Glu244Ala)
|
|
|
NM_000110.4(DPYD):c.967G>A (p.Ala323Thr)
|
|
|
NM_000111.3(SLC26A3):c.1181G>T (p.Ser394Ile)
|
|
|
NM_000111.3(SLC26A3):c.1372A>G (p.Ile458Val)
|
|
|
NM_000112.4(SLC26A2):c.1153G>A (p.Asp385Asn)
|
|
|
NM_000112.4(SLC26A2):c.2032_2033delinsCT (p.Gly678Leu)
|
rs2113699627
|
|
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer)
|
rs794729019
|
|
NM_000122.2(ERCC3):c.172G>T (p.Ala58Ser)
|
rs587778277
|
|
NM_000123.4(ERCC5):c.3021dup (p.Lys1008Ter)
|
|
|
NM_000123.4(ERCC5):c.3188_3192del (p.Thr1063fs)
|
rs2140543372
|
|
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter)
|
rs9514067
|
|
NM_000123.4(ERCC5):c.3256G>A (p.Gly1086Arg)
|
|
|
NM_000123.4(ERCC5):c.3556dup (p.Thr1186fs)
|
rs769870504
|
|
NM_000123.4(ERCC5):c.560A>C (p.Asp187Ala)
|
rs2140523174
|
|
NM_000123.4(ERCC5):c.881-26T>G
|
|
|
NM_000124.4(ERCC6):c.1339C>T (p.Arg447Trp)
|
|
|
NM_000124.4(ERCC6):c.1762TGG[1] (p.Trp589del)
|
rs760919459
|
|
NM_000124.4(ERCC6):c.2870T>G (p.Val957Gly)
|
|
|
NM_000124.4(ERCC6):c.3124C>T (p.Pro1042Ser)
|
rs1347404070
|
|
NM_000126.4(ETFA):c.733G>A (p.Val245Ile)
|
|
|
NM_000126.4(ETFA):c.963+1del
|
rs746488455
|
|
NM_000128.4(F11):c.1106A>C (p.Tyr369Ser)
|
|
|
NM_000128.4(F11):c.1288G>T (p.Ala430Ser)
|
|
|
NM_000128.4(F11):c.1305-10T>A
|
|
|
NM_000128.4(F11):c.452A>G (p.Tyr151Cys)
|
rs281875273
|
|
NM_000129.4(F13A1):c.1135G>C (p.Ala379Pro)
|
|
|
NM_000129.4(F13A1):c.1213G>A (p.Asp405Asn)
|
|
|
NM_000129.4(F13A1):c.1261G>A (p.Gly421Ser)
|
|
|
NM_000129.4(F13A1):c.1622G>A (p.Arg541Gln)
|
rs367679357
|
|
NM_000129.4(F13A1):c.1796T>C (p.Leu599Pro)
|
|
|
NM_000129.4(F13A1):c.872C>G (p.Ser291Trp)
|
|
|
NM_000132.4(F8):c.241G>A (p.Ala81Thr)
|
|
|
NM_000132.4(F8):c.241G>T (p.Ala81Ser)
|
|
|
NM_000132.4(F8):c.5545T>A (p.Phe1849Ile)
|
|
|
NM_000132.4(F8):c.6010A>G (p.Thr2004Ala)
|
|
|
NM_000132.4(F8):c.602G>A (p.Gly201Glu)
|
|
|
NM_000132.4(F8):c.6077A>G (p.His2026Arg)
|
|
|
NM_000132.4(F8):c.6400T>C (p.Tyr2134His)
|
|
|
NM_000132.4(F8):c.6523_6525del (p.Tyr2175del)
|
rs2072706332
|
|
NM_000132.4(F8):c.701C>G (p.Ser234Cys)
|
|
|
NM_000132.4(F8):c.766T>A (p.Tyr256Asn)
|
rs1569559955
|
|
NM_000132.4(F8):c.839G>A (p.Gly280Asp)
|
|
|
NM_000133.4(F9):c.1105C>T (p.Leu369Phe)
|
rs2148367939
|
|
NM_000133.4(F9):c.1148T>C (p.Leu383Pro)
|
rs1387119011
|
|
NM_000133.4(F9):c.374G>A (p.Gly125Glu)
|
|
|
NM_000133.4(F9):c.392-7_392-4del
|
rs2148361119
|
|
NM_000133.4(F9):c.424G>C (p.Glu142Gln)
|
|
|
NM_000133.4(F9):c.466T>C (p.Ser156Pro)
|
|
|
NM_000133.4(F9):c.682G>A (p.Val228Ile)
|
|
|
NM_000133.4(F9):c.971C>A (p.Pro324His)
|
|
|
NM_000133.4(F9):c.997C>T (p.Pro333Ser)
|
rs2148367784
|
|
NM_000135.4(FANCA):c.1715+8G>A
|
rs1209332039
|
|
NM_000135.4(FANCA):c.1871C>T (p.Ala624Val)
|
rs146491000
|
|
NM_000135.4(FANCA):c.199C>A (p.Pro67Thr)
|
rs575469396
|
|
NM_000135.4(FANCA):c.2602-13CT[2]
|
rs577636020
|
|
NM_000135.4(FANCA):c.3547T>G (p.Cys1183Gly)
|
rs763856094
|
|
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr)
|
rs765162125
|
|
NM_000135.4(FANCA):c.4309C>T (p.Gln1437Ter)
|
|
|
NM_000136.3(FANCC):c.1244C>T (p.Ala415Val)
|
rs550462055
|
|
NM_000136.3(FANCC):c.1310A>C (p.Gln437Pro)
|
rs912537449
|
|
NM_000136.3(FANCC):c.1534-5del
|
rs748342368
|
|
NM_000136.3(FANCC):c.3G>A (p.Met1Ile)
|
rs1368374192
|
|
NM_000136.3(FANCC):c.568C>T (p.Leu190Phe)
|
rs1800364
|
|
NM_000136.3(FANCC):c.592C>T (p.Pro198Ser)
|
rs2135427761
|
|
NM_000137.4(FAH):c.648C>G (p.Ile216Met)
|
rs147016995
|
|
NM_000138.5(FBN1):c.1036T>C (p.Ser346Pro)
|
rs727504361
|
|
NM_000138.5(FBN1):c.10G>A (p.Gly4Arg)
|
rs1890263469
|
|
NM_000138.5(FBN1):c.1147+19A>G
|
rs369942195
|
|
NM_000138.5(FBN1):c.1147+4A>G
|
rs2043844451
|
|
NM_000138.5(FBN1):c.1175C>G (p.Pro392Arg)
|
rs534127494
|
|
NM_000138.5(FBN1):c.1348A>G (p.Thr450Ala)
|
rs1566916727
|
|
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr)
|
rs1597581001
|
|
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys)
|
rs587782943
|
|
NM_000138.5(FBN1):c.1427G>T (p.Cys476Phe)
|
rs2043792070
|
|
NM_000138.5(FBN1):c.1513A>G (p.Ile505Val)
|
rs2043778389
|
|
NM_000138.5(FBN1):c.1526G>T (p.Gly509Val)
|
rs2141327790
|
|
NM_000138.5(FBN1):c.1538G>T (p.Cys513Phe)
|
rs1060501036
|
|
NM_000138.5(FBN1):c.1540C>G (p.Gln514Glu)
|
|
|
NM_000138.5(FBN1):c.164+4A>G
|
rs1890257515
|
|
NM_000138.5(FBN1):c.1714+5T>C
|
rs2043745384
|
|
NM_000138.5(FBN1):c.1723G>A (p.Glu575Lys)
|
rs1259811604
|
|
NM_000138.5(FBN1):c.1751A>G (p.Asn584Ser)
|
rs2043732580
|
|
NM_000138.5(FBN1):c.1972C>T (p.Arg658Trp)
|
rs751517759
|
|
NM_000138.5(FBN1):c.208G>A (p.Gly70Arg)
|
rs2044669023
|
|
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu)
|
rs794728185
|
|
NM_000138.5(FBN1):c.2179T>G (p.Cys727Gly)
|
rs1064794025
|
|
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg)
|
rs1555399361
|
|
NM_000138.5(FBN1):c.2422A>G (p.Ile808Val)
|
|
|
NM_000138.5(FBN1):c.248-17C>G
|
|
|
NM_000138.5(FBN1):c.2508T>A (p.Ser836Arg)
|
rs193922190
|
|
NM_000138.5(FBN1):c.2545A>G (p.Ile849Val)
|
rs2043596507
|
|
NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg)
|
rs2043595247
|
|
NM_000138.5(FBN1):c.2677+11C>T
|
|
|
NM_000138.5(FBN1):c.2729-17dup
|
rs35314876
|
|
NM_000138.5(FBN1):c.2804G>A (p.Cys935Tyr)
|
rs1566910918
|
|
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu)
|
rs758257941
|
|
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.3082+9T>C
|
rs746303949
|
|
NM_000138.5(FBN1):c.3144T>A (p.Ile1048=)
|
rs112384723
|
|
NM_000138.5(FBN1):c.3208+13G>A
|
rs2043527577
|
|
NM_000138.5(FBN1):c.3209-13T>C
|
|
|
NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile)
|
rs1352765609
|
|
NM_000138.5(FBN1):c.3590-11A>G
|
rs777262423
|
|
NM_000138.5(FBN1):c.3609A>G (p.Ile1203Met)
|
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3800A>G (p.Asp1267Gly)
|
|
|
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val)
|
rs1566908083
|
|
NM_000138.5(FBN1):c.391G>A (p.Asp131Asn)
|
rs2044550847
|
|
NM_000138.5(FBN1):c.4057G>T (p.Gly1353Trp)
|
rs187177496
|
|
NM_000138.5(FBN1):c.4174A>G (p.Lys1392Glu)
|
rs756683929
|
|
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)
|
rs747867726
|
|
NM_000138.5(FBN1):c.4409G>T (p.Cys1470Phe)
|
rs2043365537
|
|
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu)
|
rs370161725
|
|
NM_000138.5(FBN1):c.4550T>C (p.Phe1517Ser)
|
rs2043340822
|
|
NM_000138.5(FBN1):c.4570G>A (p.Val1524Ile)
|
rs2043340600
|
|
NM_000138.5(FBN1):c.4601G>C (p.Cys1534Ser)
|
rs112559031
|
|
NM_000138.5(FBN1):c.4714A>G (p.Thr1572Ala)
|
rs1597548645
|
|
NM_000138.5(FBN1):c.4940A>T (p.Asp1647Val)
|
rs1566903908
|
|
NM_000138.5(FBN1):c.4942+3A>G
|
rs2043313628
|
|
NM_000138.5(FBN1):c.4954T>C (p.Cys1652Arg)
|
rs1566903565
|
|
NM_000138.5(FBN1):c.4981G>A (p.Gly1661Arg)
|
rs2043300995
|
|
NM_000138.5(FBN1):c.5279A>G (p.Tyr1760Cys)
|
rs1597543452
|
|
NM_000138.5(FBN1):c.53C>T (p.Ala18Val)
|
|
|
NM_000138.5(FBN1):c.5494C>A (p.Arg1832Ser)
|
rs1566900499
|
|
NM_000138.5(FBN1):c.5558G>A (p.Cys1853Tyr)
|
rs1555395989
|
|
NM_000138.5(FBN1):c.5594G>C (p.Cys1865Ser)
|
rs2141252190
|
|
NM_000138.5(FBN1):c.5674A>G (p.Ile1892Val)
|
rs760170973
|
|
NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr)
|
rs397515827
|
|
NM_000138.5(FBN1):c.5788+4C>T
|
rs577301285
|
|
NM_000138.5(FBN1):c.5901T>A (p.Asp1967Glu)
|
rs1566898401
|
|
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)
|
rs886038967
|
|
NM_000138.5(FBN1):c.608T>C (p.Val203Ala)
|
rs2141358343
|
|
NM_000138.5(FBN1):c.6106T>C (p.Phe2036Leu)
|
rs2043116963
|
|
NM_000138.5(FBN1):c.6145A>C (p.Ser2049Arg)
|
rs1597529691
|
|
NM_000138.5(FBN1):c.6410G>A (p.Cys2137Tyr)
|
rs1555395206
|
|
NM_000138.5(FBN1):c.6541T>C (p.Cys2181Arg)
|
rs1131691373
|
|
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly)
|
rs1597522584
|
|
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met)
|
rs921997271
|
|
NM_000138.5(FBN1):c.669G>A (p.Met223Ile)
|
rs910928261
|
|
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly)
|
rs1060501032
|
|
NM_000138.5(FBN1):c.6809G>A (p.Gly2270Asp)
|
rs1566894274
|
|
NM_000138.5(FBN1):c.6866G>C (p.Cys2289Ser)
|
rs1566894230
|
|
NM_000138.5(FBN1):c.6872-15A>G
|
|
|
NM_000138.5(FBN1):c.6997+10G>C
|
rs2042997079
|
|
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)
|
rs794728262
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
NM_000138.5(FBN1):c.7082C>G (p.Ser2361Trp)
|
rs397515844
|
|
NM_000138.5(FBN1):c.718C>A (p.Arg240Ser)
|
rs137854480
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser)
|
rs771260695
|
|
NM_000138.5(FBN1):c.7271_7273del (p.Ser2424del)
|
|
|
NM_000138.5(FBN1):c.7327G>A (p.Val2443Ile)
|
|
|
NM_000138.5(FBN1):c.736+4A>G
|
|
|
NM_000138.5(FBN1):c.737-19_737-16del
|
rs748812494
|
|
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe)
|
rs1555394398
|
|
NM_000138.5(FBN1):c.7496T>C (p.Leu2499Pro)
|
|
|
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)
|
rs1555394243
|
|
NM_000138.5(FBN1):c.7542_7544dup (p.Gly2514_Phe2515insLeu)
|
|
|
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser)
|
rs794728336
|
|
NM_000138.5(FBN1):c.7666T>G (p.Phe2556Val)
|
rs193922234
|
|
NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe)
|
rs112118237
|
|
NM_000138.5(FBN1):c.7834_7839del (p.Leu2612_Ser2613del)
|
rs2141215073
|
|
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7861T>G (p.Ser2621Ala)
|
rs2042899021
|
|
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser)
|
rs763173031
|
|
NM_000138.5(FBN1):c.8005G>A (p.Gly2669Ser)
|
rs794728281
|
|
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg)
|
rs1555393666
|
|
NM_000138.5(FBN1):c.8227-8C>G
|
rs2141210191
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000138.5(FBN1):c.82A>G (p.Asn28Asp)
|
rs1555407418
|
|
NM_000138.5(FBN1):c.8326C>G (p.Arg2776Gly)
|
rs137854466
|
|
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser)
|
rs794728287
|
|
NM_000138.5(FBN1):c.8543A>G (p.Lys2848Arg)
|
rs765839151
|
|
NM_000140.5(FECH):c.1264C>T (p.Gln422Ter)
|
|
|
NM_000140.5(FECH):c.502C>T (p.Pro168Ser)
|
rs2122299647
|
|
NM_000141.5(FGFR2):c.181C>T (p.Arg61Cys)
|
|
|
NM_000141.5(FGFR2):c.202G>A (p.Ala68Thr)
|
|
|
NM_000142.5(FGFR3):c.1316G>C (p.Arg439Pro)
|
|
|
NM_000142.5(FGFR3):c.1411dup (p.Arg471fs)
|
|
|
NM_000142.5(FGFR3):c.1549A>G (p.Lys517Glu)
|
|
|
NM_000142.5(FGFR3):c.1630G>T (p.Ala544Ser)
|
|
|
NM_000142.5(FGFR3):c.2031-4G>A
|
|
|
NM_000142.5(FGFR3):c.2334del (p.Ser779fs)
|
|
|
NM_000143.4(FH):c.1153_1155dup (p.Ala385_Gln386insAla)
|
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.1495G>A (p.Glu499Lys)
|
rs750838853
|
|
NM_000143.4(FH):c.988A>C (p.Thr330Pro)
|
rs776313200
|
|
NM_000146.4(FTL):c.213C>A (p.Asn71Lys)
|
|
|
NM_000147.5(FUCA1):c.1285_1286insT (p.Asp429fs)
|
rs1186488065
|
|
NM_000147.5(FUCA1):c.524+5G>A
|
|
|
NM_000147.5(FUCA1):c.989G>A (p.Ser330Asn)
|
rs950763723
|
|
NM_000151.4(G6PC1):c.364G>A (p.Gly122Ser)
|
|
|
NM_000151.4(G6PC1):c.46A>G (p.Thr16Ala)
|
|
|
NM_000152.5(GAA):c.-32-13T>C
|
rs386834236
|
|
NM_000152.5(GAA):c.1000G>T (p.Gly334Cys)
|
rs886042960
|
|
NM_000152.5(GAA):c.1087A>G (p.Met363Val)
|
rs2039148780
|
|
NM_000152.5(GAA):c.1239C>G (p.Asp413Glu)
|
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
NM_000152.5(GAA):c.1375G>C (p.Asp459His)
|
rs535644999
|
|
NM_000152.5(GAA):c.1461C>G (p.Phe487Leu)
|
|
|
NM_000152.5(GAA):c.1679C>T (p.Ser560Phe)
|
rs576056187
|
|
NM_000152.5(GAA):c.1724A>T (p.Tyr575Phe)
|
|
|
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)
|
rs1428112902
|
|
NM_000152.5(GAA):c.1952G>T (p.Gly651Val)
|
rs939350425
|
|
NM_000152.5(GAA):c.1976T>C (p.Val659Ala)
|
|
|
NM_000152.5(GAA):c.2012T>A (p.Met671Lys)
|
|
|
NM_000152.5(GAA):c.2051C>A (p.Pro684Gln)
|
rs147327209
|
|
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)
|
rs398123172
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)
|
rs1292367136
|
|
NM_000152.5(GAA):c.2481+4C>G
|
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
NM_000152.5(GAA):c.623T>C (p.Leu208Pro)
|
rs2039071572
|
|
NM_000152.5(GAA):c.693G>T (p.Leu231=)
|
|
|
NM_000152.5(GAA):c.710C>A (p.Ala237Glu)
|
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
NM_000152.5(GAA):c.725C>T (p.Ala242Val)
|
rs745861849
|
|
NM_000152.5(GAA):c.860C>T (p.Pro287Leu)
|
rs1289916206
|
|
NM_000153.3(GALC):c.-66G>C
|
|
|
NM_000153.4(GALC):c.-80_-75delATCAGC
|
rs564526560
|
|
NM_000153.4(GALC):c.1065G>T (p.Trp355Cys)
|
|
|
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser)
|
rs759286485
|
|
NM_000153.4(GALC):c.1151T>C (p.Ile384Thr)
|
|
|
NM_000153.4(GALC):c.1162-4T>A
|
rs774455523
|
|
NM_000153.4(GALC):c.1199C>T (p.Pro400Leu)
|
|
|
NM_000153.4(GALC):c.187_195+10dup
|
|
|
NM_000153.4(GALC):c.621G>A (p.Lys207=)
|
rs1428763453
|
|
NM_000153.4(GALC):c.691G>A (p.Glu231Lys)
|
rs542231350
|
|
NM_000153.4(GALC):c.757C>T (p.His253Tyr)
|
|
|
NM_000153.4(GALC):c.973A>G (p.Met325Val)
|
rs772190761
|
|
NM_000154.1(GALK1):c.1108_1110delGAG
|
|
|
NM_000154.2(GALK1):c.505G>A (p.Val169Met)
|
rs2143602929
|
|
NM_000155.2(GALT):c.-119_-116delGTCA
|
rs111033640
|
|
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
|
|
|
NM_000155.3(GALT):c.-839_-837delTTT
|
rs549043849
|
|
NM_000155.4(GALT):c.1022T>C (p.Met341Thr)
|
rs1248681332
|
|
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly)
|
rs1821203474
|
|
NM_000155.4(GALT):c.1060-71dup
|
rs56121779
|
|
NM_000155.4(GALT):c.1094A>G (p.His365Arg)
|
rs1821228599
|
|
NM_000155.4(GALT):c.140A>G (p.His47Arg)
|
rs2132341581
|
|
NM_000155.4(GALT):c.143G>T (p.Arg48Leu)
|
|
|
NM_000155.4(GALT):c.155C>G (p.Pro52Arg)
|
rs2132341621
|
|
NM_000155.4(GALT):c.203A>C (p.His68Pro)
|
rs193922247
|
|
NM_000155.4(GALT):c.285T>G (p.Phe95Leu)
|
rs111033668
|
|
NM_000155.4(GALT):c.313G>A (p.Asp105Asn)
|
rs1564100971
|
|
NM_000155.4(GALT):c.346C>A (p.Leu116Ile)
|
rs1554709252
|
|
NM_000155.4(GALT):c.413C>G (p.Thr138Arg)
|
rs111033686
|
|
NM_000155.4(GALT):c.502_504del (p.Val168del)
|
rs1219976432
|
|
NM_000155.4(GALT):c.554C>T (p.Pro185Leu)
|
rs111033722
|
|
NM_000155.4(GALT):c.688-12_688-11del
|
rs777929860
|
|
NM_000155.4(GALT):c.754C>A (p.Gln252Lys)
|
rs1564101859
|
|
NM_000155.4(GALT):c.779_790del (p.His260_Arg263del)
|
rs111033762
|
|
NM_000155.4(GALT):c.793C>G (p.Pro265Ala)
|
rs111033764
|
|
NM_000155.4(GALT):c.815G>A (p.Arg272His)
|
rs111033831
|
|
NM_000155.4(GALT):c.815G>T (p.Arg272Leu)
|
|
|
NM_000155.4(GALT):c.820+18G>A
|
rs1564101965
|
|
NM_000155.4(GALT):c.833T>C (p.Ile278Thr)
|
rs111033778
|
|
NM_000155.4(GALT):c.904+7C>A
|
rs1564102104
|
|
NM_000156.6(GAMT):c.172TCC[3] (p.Ser59dup)
|
rs768895098
|
|
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys)
|
rs1569006974
|
|
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp)
|
rs760101382
|
|
NM_000156.6(GAMT):c.505T>C (p.Cys169Arg)
|
rs1600158346
|
|
NM_000156.6(GAMT):c.578A>G (p.Gln193Arg)
|
rs2082607477
|
|
NM_000156.6(GAMT):c.59G>T (p.Trp20Leu)
|
rs80338734
|
|
NM_000157.4(GBA1):c.1060G>C (p.Asp354His)
|
rs398123526
|
|
NM_000157.4(GBA1):c.1103G>A (p.Arg368His)
|
|
|
NM_000157.4(GBA1):c.1263C>A (p.Asn421Lys)
|
rs2148071759
|
|
NM_000157.4(GBA1):c.1275C>A (p.Asn425Lys)
|
rs1026993108
|
|
NM_000157.4(GBA1):c.136A>G (p.Lys46Glu)
|
|
|
NM_000157.4(GBA1):c.1534A>T (p.Lys512Ter)
|
rs1671660634
|
|
NM_000157.4(GBA1):c.232C>T (p.Arg78Cys)
|
|
|
NM_000157.4(GBA1):c.350T>C (p.Val117Ala)
|
|
|
NM_000157.4(GBA1):c.385G>A (p.Ala129Thr)
|
|
|
NM_000157.4(GBA1):c.469A>T (p.Ile157Phe)
|
|
|
NM_000157.4(GBA1):c.509G>A (p.Arg170His)
|
rs80356763
|
|
NM_000157.4(GBA1):c.588G>T (p.Lys196Asn)
|
|
|
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.1237G>C (p.Asp413His)
|
rs752711257
|
|
NM_000158.4(GBE1):c.1621A>T (p.Asn541Tyr)
|
|
|
NM_000159.4(GCDH):c.1000AAG[1] (p.Lys335del)
|
|
|
NM_000159.4(GCDH):c.1039C>T (p.Leu347Phe)
|
|
|
NM_000159.4(GCDH):c.169G>A (p.Glu57Lys)
|
|
|
NM_000159.4(GCDH):c.242C>T (p.Pro81Leu)
|
|
|
NM_000159.4(GCDH):c.280C>T (p.Arg94Trp)
|
rs771602677
|
|
NM_000159.4(GCDH):c.319G>A (p.Gly107Ser)
|
|
|
NM_000159.4(GCDH):c.380C>T (p.Ala127Val)
|
|
|
NM_000159.4(GCDH):c.397G>T (p.Val133Leu)
|
rs746388510
|
|
NM_000159.4(GCDH):c.531C>A (p.Phe177Leu)
|
|
|
NM_000159.4(GCDH):c.683G>T (p.Cys228Phe)
|
rs1970675873
|
|
NM_000159.4(GCDH):c.797T>C (p.Met266Thr)
|
rs771650894
|
|
NM_000159.4(GCDH):c.901G>A (p.Val301Met)
|
|
|
NM_000162.5(GCK):c.1012G>A (p.Val338Met)
|
|
|
NM_000162.5(GCK):c.1020-10C>A
|
rs193922257
|
|
NM_000162.5(GCK):c.1033C>G (p.Arg345Gly)
|
rs2096271919
|
|
NM_000162.5(GCK):c.1064T>C (p.Leu355Pro)
|
rs1583592156
|
|
NM_000162.5(GCK):c.1130G>T (p.Arg377Leu)
|
rs193922264
|
|
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly)
|
rs193922271
|
|
NM_000162.5(GCK):c.1222G>A (p.Val408Met)
|
rs1293307672
|
|
NM_000162.5(GCK):c.1298_1309del (p.Ser433_Ile436del)
|
|
|
NM_000162.5(GCK):c.1309A>C (p.Thr437Pro)
|
rs2096270595
|
|
NM_000162.5(GCK):c.130G>T (p.Gly44Cys)
|
|
|
NM_000162.5(GCK):c.1331G>A (p.Gly444Asp)
|
|
|
NM_000162.5(GCK):c.167A>C (p.Lys56Thr)
|
|
|
NM_000162.5(GCK):c.179C>T (p.Thr60Ile)
|
rs747783371
|
|
NM_000162.5(GCK):c.323A>G (p.Tyr108Cys)
|
|
|
NM_000162.5(GCK):c.350G>T (p.Gly117Val)
|
|
|
NM_000162.5(GCK):c.397T>C (p.Phe133Leu)
|
rs2128822093
|
|
NM_000162.5(GCK):c.440G>A (p.Gly147Asp)
|
rs193922296
|
|
NM_000162.5(GCK):c.457C>T (p.Pro153Ser)
|
rs193922300
|
|
NM_000162.5(GCK):c.45G>A (p.Lys15=)
|
|
|
NM_000162.5(GCK):c.551T>C (p.Leu184Pro)
|
rs2128821610
|
|
NM_000162.5(GCK):c.565A>G (p.Ile189Val)
|
|
|
NM_000162.5(GCK):c.567C>G (p.Ile189Met)
|
|
|
NM_000162.5(GCK):c.680-15C>A
|
rs369345791
|
|
NM_000162.5(GCK):c.688T>C (p.Cys230Arg)
|
rs794727839
|
|
NM_000162.5(GCK):c.691A>G (p.Asn231Asp)
|
rs2128820674
|
|
NM_000162.5(GCK):c.808CTG[1] (p.Leu271del)
|
rs2096275478
|
|
NM_000162.5(GCK):c.823C>G (p.Arg275Gly)
|
|
|
NM_000162.5(GCK):c.864G>C (p.Leu288=)
|
rs2128820056
|
|
NM_000163.5(GHR):c.910_911delinsA (p.Pro304fs)
|
|
|
NM_000165.5(GJA1):c.457C>T (p.Arg153Ter)
|
|
|
NM_000165.5(GJA1):c.887CTT[1] (p.Ser297del)
|
rs976659652
|
|
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1])
|
rs116840823
|
|
NM_000166.6(GJB1):c.658C>G (p.Arg220Gly)
|
rs104894814
|
|
NM_000166.6(GJB1):c.705C>A (p.Phe235Leu)
|
rs760150310
|
|
NM_000169.2(GLA):c.-79G>A
|
rs1928609406
|
|
NM_000169.3(GLA):c.1000-14dup
|
|
|
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)
|
rs144994244
|
|
NM_000169.3(GLA):c.1116_1117delinsAT (p.Gly373Cys)
|
rs1928127475
|
|
NM_000169.3(GLA):c.1244T>G (p.Leu415Arg)
|
rs112341092
|
|
NM_000169.3(GLA):c.138C>G (p.His46Gln)
|
rs869312253
|
|
NM_000169.3(GLA):c.151A>G (p.Met51Val)
|
|
|
NM_000169.3(GLA):c.167G>T (p.Cys56Phe)
|
rs869312258
|
|
NM_000169.3(GLA):c.187T>C (p.Cys63Arg)
|
rs1928578294
|
|
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)
|
rs781838005
|
|
NM_000169.3(GLA):c.369+5G>T
|
rs398123209
|
|
NM_000169.3(GLA):c.370G>T (p.Val124Phe)
|
|
|
NM_000169.3(GLA):c.409G>T (p.Val137Phe)
|
rs1928326653
|
|
NM_000169.3(GLA):c.56T>A (p.Leu19Gln)
|
rs1928592578
|
|
NM_000169.3(GLA):c.592_603del (p.Ile198_Ser201del)
|
rs1928284093
|
|
NM_000169.3(GLA):c.604T>C (p.Cys202Arg)
|
rs1569303843
|
|
NM_000169.3(GLA):c.639+852_639+855del
|
rs782584102
|
|
NM_000169.3(GLA):c.639G>A (p.Lys213=)
|
rs1928277930
|
|
NM_000169.3(GLA):c.640-336T>C
|
|
|
NM_000169.3(GLA):c.72G>C (p.Trp24Cys)
|
rs869312392
|
|
NM_000169.3(GLA):c.887T>A (p.Met296Lys)
|
rs869312442
|
|
NM_000169.3(GLA):c.890C>A (p.Ser297Tyr)
|
rs28935489
|
|
NM_000169.3(GLA):c.913_945dup (p.Pro305_Asp315dup)
|
rs2147471995
|
|
NM_000170.3(GLDC):c.1846A>G (p.Asn616Asp)
|
rs2129831435
|
|
NM_000170.3(GLDC):c.2315+6T>C
|
rs1817582202
|
|
NM_000170.3(GLDC):c.2606_2607delinsTA (p.Pro869Leu)
|
|
|
NM_000170.3(GLDC):c.2838+5G>A
|
rs386833568
|
|
NM_000170.3(GLDC):c.2969A>C (p.Asp990Ala)
|
|
|
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys)
|
rs386833584
|
|
NM_000170.3(GLDC):c.937G>T (p.Ala313Ser)
|
|
|
NM_000173.7(GP1BA):c.1202C>T (p.Thr401Ile)
|
|
|
NM_000173.7(GP1BA):c.1253C>G (p.Ala418Gly)
|
|
|
NM_000173.7(GP1BA):c.1406C>T (p.Thr469Ile)
|
|
|
NM_000173.7(GP1BA):c.1432T>G (p.Phe478Val)
|
|
|
NM_000173.7(GP1BA):c.1683G>T (p.Gln561His)
|
|
|
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys)
|
rs1597638398
|
|
NM_000173.7(GP1BA):c.1774C>T (p.Arg592Trp)
|
|
|
NM_000173.7(GP1BA):c.673T>C (p.Cys225Arg)
|
rs1394634674
|
|
NM_000173.7(GP1BA):c.715A>G (p.Asn239Asp)
|
|
|
NM_000174.5(GP9):c.124G>A (p.Gly42Arg)
|
|
|
NM_000174.5(GP9):c.241G>A (p.Asp81Asn)
|
|
|
NM_000174.5(GP9):c.284A>G (p.Tyr95Cys)
|
rs1946583076
|
|
NM_000178.4(GSS):c.1407C>A (p.Asp469Glu)
|
rs1419704426
|
|
NM_000178.4(GSS):c.800G>A (p.Arg267Gln)
|
|
|
NM_000179.3(MSH6):c.-17C>G
|
rs370816858
|
|
NM_000179.3(MSH6):c.-9G>A
|
rs1558644641
|
|
NM_000179.3(MSH6):c.1001A>C (p.Lys334Thr)
|
rs1558660066
|
|
NM_000179.3(MSH6):c.1006A>G (p.Thr336Ala)
|
rs1572721235
|
|
NM_000179.3(MSH6):c.104C>T (p.Ala35Val)
|
rs776547943
|
|
NM_000179.3(MSH6):c.1093T>C (p.Trp365Arg)
|
rs752628520
|
|
NM_000179.3(MSH6):c.113C>T (p.Pro38Leu)
|
rs1553408211
|
|
NM_000179.3(MSH6):c.1170T>A (p.Asp390Glu)
|
rs55882234
|
|
NM_000179.3(MSH6):c.1175A>T (p.Asp392Val)
|
rs1064794625
|
|
NM_000179.3(MSH6):c.1178C>T (p.Ala393Val)
|
rs764110569
|
|
NM_000179.3(MSH6):c.118G>A (p.Ala40Thr)
|
rs754231971
|
|
NM_000179.3(MSH6):c.1201G>A (p.Asp401Asn)
|
rs1669308138
|
|
NM_000179.3(MSH6):c.1220C>T (p.Thr407Ile)
|
rs1114167754
|
|
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)
|
rs750528093
|
|
NM_000179.3(MSH6):c.1513T>C (p.Tyr505His)
|
rs1558661932
|
|
NM_000179.3(MSH6):c.1561A>C (p.Thr521Pro)
|
rs587779916
|
|
NM_000179.3(MSH6):c.1631A>T (p.Glu544Val)
|
rs1669354962
|
|
NM_000179.3(MSH6):c.1658C>G (p.Thr553Ser)
|
rs1553413038
|
|
NM_000179.3(MSH6):c.1700A>G (p.Lys567Arg)
|
rs1558662651
|
|
NM_000179.3(MSH6):c.1729C>G (p.Arg577Gly)
|
rs542838372
|
|
NM_000179.3(MSH6):c.175C>A (p.Pro59Thr)
|
rs761033647
|
|
NM_000179.3(MSH6):c.1774G>A (p.Val592Ile)
|
rs1558662912
|
|
NM_000179.3(MSH6):c.1844G>T (p.Cys615Phe)
|
rs730881793
|
|
NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys)
|
rs772363120
|
|
NM_000179.3(MSH6):c.186_187inv (p.Ser63Ala)
|
|
|
NM_000179.3(MSH6):c.1871G>T (p.Gly624Val)
|
rs763606858
|
|
NM_000179.3(MSH6):c.1876C>G (p.Gln626Glu)
|
rs1553413253
|
|
NM_000179.3(MSH6):c.1936A>G (p.Lys646Glu)
|
rs2104377347
|
|
NM_000179.3(MSH6):c.1945G>T (p.Asp649Tyr)
|
rs1064793188
|
|
NM_000179.3(MSH6):c.1967C>T (p.Pro656Leu)
|
rs1669401102
|
|
NM_000179.3(MSH6):c.19C>A (p.Leu7Met)
|
rs1064795094
|
|
NM_000179.3(MSH6):c.19C>G (p.Leu7Val)
|
rs1064795094
|
|
NM_000179.3(MSH6):c.2018C>T (p.Pro673Leu)
|
rs864622085
|
|
NM_000179.3(MSH6):c.2053G>C (p.Gly685Arg)
|
rs1553413427
|
|
NM_000179.3(MSH6):c.2108T>C (p.Met703Thr)
|
rs1064793189
|
|
NM_000179.3(MSH6):c.2180C>A (p.Thr727Asn)
|
rs767861096
|
|
NM_000179.3(MSH6):c.2240T>G (p.Leu747Arg)
|
rs876660234
|
|
NM_000179.3(MSH6):c.2261C>A (p.Thr754Asn)
|
rs1669440639
|
|
NM_000179.3(MSH6):c.2372G>A (p.Arg791His)
|
rs755587950
|
|
NM_000179.3(MSH6):c.2415_2418delinsTTCT (p.Ile805_Ser806=)
|
rs1669459551
|
|
NM_000179.3(MSH6):c.247G>A (p.Ala83Thr)
|
rs755964436
|
|
NM_000179.3(MSH6):c.2541A>T (p.Glu847Asp)
|
rs1553413887
|
|
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del)
|
rs587782858
|
|
NM_000179.3(MSH6):c.260+11G>T
|
rs550120121
|
|
NM_000179.3(MSH6):c.260+5C>T
|
rs1440012800
|
|
NM_000179.3(MSH6):c.2633T>G (p.Val878Gly)
|
rs2020912
|
|
NM_000179.3(MSH6):c.2668G>T (p.Val890Phe)
|
rs786202628
|
|
NM_000179.3(MSH6):c.2753A>G (p.His918Arg)
|
rs754948438
|
|
NM_000179.3(MSH6):c.275_276inv (p.Pro92Leu)
|
|
|
NM_000179.3(MSH6):c.2850C>G (p.Ser950Arg)
|
rs571394629
|
|
NM_000179.3(MSH6):c.2875C>A (p.Arg959Ser)
|
rs751973865
|
|
NM_000179.3(MSH6):c.2956A>G (p.Thr986Ala)
|
rs1553414327
|
|
NM_000179.3(MSH6):c.2960C>G (p.Thr987Ser)
|
rs587779928
|
|
NM_000179.3(MSH6):c.2979A>T (p.Glu993Asp)
|
rs370462886
|
|
NM_000179.3(MSH6):c.2983G>C (p.Glu995Gln)
|
rs63750258
|
|
NM_000179.3(MSH6):c.3047C>T (p.Ala1016Val)
|
rs587779929
|
|
NM_000179.3(MSH6):c.3068A>G (p.Glu1023Gly)
|
rs1553414454
|
|
NM_000179.3(MSH6):c.3079G>C (p.Val1027Leu)
|
rs876658397
|
|
NM_000179.3(MSH6):c.3101G>A (p.Arg1034Gln)
|
rs181727939
|
|
NM_000179.3(MSH6):c.3104G>T (p.Arg1035Leu)
|
rs730881801
|
|
NM_000179.3(MSH6):c.3220A>G (p.Met1074Val)
|
rs730881804
|
|
NM_000179.3(MSH6):c.3253A>T (p.Thr1085Ser)
|
rs751563328
|
|
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His)
|
rs63750753
|
|
NM_000179.3(MSH6):c.328G>A (p.Val110Ile)
|
rs876659374
|
|
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)
|
rs63750442
|
|
NM_000179.3(MSH6):c.3364C>G (p.Gln1122Glu)
|
rs1060502892
|
|
NM_000179.3(MSH6):c.3395T>C (p.Val1132Ala)
|
rs1114167711
|
|
NM_000179.3(MSH6):c.3410T>C (p.Met1137Thr)
|
rs1553331742
|
|
NM_000179.3(MSH6):c.3438+16A>G
|
rs1469439866
|
|
NM_000179.3(MSH6):c.3459G>A (p.Met1153Ile)
|
rs1553332160
|
|
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys)
|
rs587779264
|
|
NM_000179.3(MSH6):c.34C>A (p.Pro12Thr)
|
rs587782084
|
|
NM_000179.3(MSH6):c.3527G>A (p.Arg1176Lys)
|
rs876661148
|
|
NM_000179.3(MSH6):c.3548T>A (p.Ile1183Lys)
|
rs1459635476
|
|
NM_000179.3(MSH6):c.3574G>C (p.Val1192Leu)
|
rs1669959178
|
|
NM_000179.3(MSH6):c.35C>T (p.Pro12Leu)
|
rs760603184
|
|
NM_000179.3(MSH6):c.3602T>A (p.Leu1201His)
|
|
|
NM_000179.3(MSH6):c.3623C>T (p.Ser1208Phe)
|
rs1572742021
|
|
NM_000179.3(MSH6):c.3634G>A (p.Val1212Met)
|
rs864622748
|
|
NM_000179.3(MSH6):c.3679_3690del (p.Ile1227_Ala1230del)
|
rs2104538290
|
|
NM_000179.3(MSH6):c.3698A>G (p.Lys1233Arg)
|
rs766557450
|
|
NM_000179.3(MSH6):c.3716T>C (p.Ile1239Thr)
|
rs786203816
|
|
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del)
|
rs876658650
|
|
NM_000179.3(MSH6):c.3730T>G (p.Leu1244Val)
|
rs1060502938
|
|
NM_000179.3(MSH6):c.3740C>T (p.Thr1247Ile)
|
rs786204182
|
|
NM_000179.3(MSH6):c.3752C>T (p.Ser1251Leu)
|
rs1558392317
|
|
NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala)
|
rs202066386
|
|
NM_000179.3(MSH6):c.3759AGA[1] (p.Glu1254del)
|
rs587779937
|
|
NM_000179.3(MSH6):c.3762_3763delinsTT (p.Glu1254_Asp1255delinsAspTyr)
|
rs878853738
|
|
NM_000179.3(MSH6):c.37A>C (p.Lys13Gln)
|
rs942019524
|
|
NM_000179.3(MSH6):c.3802-6_3802-4del
|
rs587781932
|
|
NM_000179.3(MSH6):c.3804A>G (p.Ala1268=)
|
rs1572746044
|
|
NM_000179.3(MSH6):c.3812_3838dup (p.Ser1279_Gln1280insLeuGluAsnGluCysGluAspProSer)
|
|
|
NM_000179.3(MSH6):c.383G>T (p.Arg128Leu)
|
rs63750143
|
|
NM_000179.3(MSH6):c.3843G>T (p.Glu1281Asp)
|
rs864622384
|
|
NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup)
|
rs1553333420
|
|
NM_000179.3(MSH6):c.3850_3851insGGA (p.Ile1283_Thr1284insArg)
|
rs1553333421
|
|
NM_000179.3(MSH6):c.3873G>C (p.Lys1291Asn)
|
rs1670110153
|
|
NM_000179.3(MSH6):c.3917C>T (p.Ala1306Val)
|
|
|
NM_000179.3(MSH6):c.3940C>G (p.Gln1314Glu)
|
rs1416452389
|
|
NM_000179.3(MSH6):c.3971A>C (p.Glu1324Ala)
|
rs1114167738
|
|
NM_000179.3(MSH6):c.3971AGA[1] (p.Lys1325del)
|
rs587779300
|
|
NM_000179.3(MSH6):c.3992G>A (p.Arg1331Gln)
|
rs184131049
|
|
NM_000179.3(MSH6):c.4044A>C (p.Glu1348Asp)
|
rs786203740
|
|
NM_000179.3(MSH6):c.4081dup (p.Ter1361LeuextTer?)
|
rs1060502898
|
|
NM_000179.3(MSH6):c.427G>A (p.Val143Ile)
|
rs876661110
|
|
NM_000179.3(MSH6):c.457+3A>G
|
rs1060502921
|
|
NM_000179.3(MSH6):c.457G>C (p.Gly153Arg)
|
rs1060502885
|
|
NM_000179.3(MSH6):c.458-5del
|
rs587781955
|
|
NM_000179.3(MSH6):c.458-9T>C
|
rs1572716040
|
|
NM_000179.3(MSH6):c.583G>T (p.Val195Phe)
|
rs267608038
|
|
NM_000179.3(MSH6):c.627+3G>A
|
rs876659495
|
|
NM_000179.3(MSH6):c.627+7C>G
|
rs1553411516
|
|
NM_000179.3(MSH6):c.661_672del (p.Glu221_Glu224del)
|
rs1553412079
|
|
NM_000179.3(MSH6):c.67G>A (p.Ala23Thr)
|
rs730881810
|
|
NM_000179.3(MSH6):c.680G>A (p.Ser227Asn)
|
rs587779317
|
|
NM_000179.3(MSH6):c.686A>G (p.Glu229Gly)
|
rs587782591
|
|
NM_000179.3(MSH6):c.733A>T (p.Ile245Leu)
|
rs762168786
|
|
NM_000179.3(MSH6):c.735A>G (p.Ile245Met)
|
rs2104294265
|
|
NM_000179.3(MSH6):c.743G>A (p.Arg248Gln)
|
rs764870249
|
|
NM_000179.3(MSH6):c.743G>C (p.Arg248Pro)
|
rs764870249
|
|
NM_000179.3(MSH6):c.773T>C (p.Ile258Thr)
|
rs1553412195
|
|
NM_000179.3(MSH6):c.802G>C (p.Asp268His)
|
rs1553412217
|
|
NM_000179.3(MSH6):c.899G>C (p.Arg300Pro)
|
rs55760494
|
|
NM_000179.3(MSH6):c.907A>T (p.Met303Leu)
|
rs977576724
|
|
NM_000179.3(MSH6):c.936_941del (p.Arg312_Lys313del)
|
rs1553412361
|
|
NM_000180.4(GUCY2D):c.2849C>T (p.Ala950Val)
|
rs61750181
|
|
NM_000180.4(GUCY2D):c.514C>T (p.Leu172Phe)
|
|
|
NM_000181.4(GUSB):c.1016A>G (p.Asn339Ser)
|
|
|
NM_000181.4(GUSB):c.1135A>G (p.Asn379Asp)
|
|
|
NM_000181.4(GUSB):c.11G>A (p.Gly4Glu)
|
rs1355624664
|
|
NM_000181.4(GUSB):c.151T>A (p.Phe51Ile)
|
rs2116062709
|
|
NM_000181.4(GUSB):c.1534G>A (p.Gly512Arg)
|
rs794726973
|
|
NM_000181.4(GUSB):c.1618G>A (p.Glu540Lys)
|
|
|
NM_000181.4(GUSB):c.1729C>T (p.Arg577Cys)
|
|
|
NM_000181.4(GUSB):c.1786del (p.Gln596fs)
|
|
|
NM_000181.4(GUSB):c.956T>C (p.Phe319Ser)
|
rs2115961823
|
|
NM_000182.5(HADHA):c.1828C>G (p.Arg610Gly)
|
rs267599303
|
|
NM_000182.5(HADHA):c.2010_2012del (p.Asp670del)
|
|
|
NM_000186.4(CFH):c.1356T>G (p.Ser452Arg)
|
|
|
NM_000186.4(CFH):c.1832G>A (p.Cys611Tyr)
|
rs2149108011
|
|
NM_000186.4(CFH):c.35T>C (p.Leu12Ser)
|
|
|
NM_000187.4(HGD):c.1040G>C (p.Arg347Pro)
|
|
|
NM_000187.4(HGD):c.342+3A>C
|
|
|
NM_000187.4(HGD):c.898G>T (p.Val300Leu)
|
|
|
NM_000188.3(HK1):c.1969G>A (p.Asp657Asn)
|
|
|
NM_000188.3(HK1):c.2662G>A (p.Val888Met)
|
rs1564575554
|
|
NM_000188.3(HK1):c.907G>A (p.Gly303Arg)
|
|
|
NM_000190.4(HMBS):c.232A>G (p.Thr78Ala)
|
|
|
NM_000190.4(HMBS):c.38A>G (p.Glu13Gly)
|
|
|
NM_000196.4(HSD11B2):c.1082G>A (p.Arg361His)
|
|
|
NM_000198.4(HSD3B2):c.638G>C (p.Ser213Thr)
|
|
|
NM_000198.4(HSD3B2):c.946C>T (p.Arg316Cys)
|
|
|
NM_000199.5(SGSH):c.1060G>C (p.Ala354Pro)
|
|
|
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)
|
rs1131691434
|
|
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr)
|
rs1385318543
|
|
NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys)
|
|
|
NM_000202.8(IDS):c.1643T>A (p.Leu548Ter)
|
|
|
NM_000202.8(IDS):c.350C>T (p.Ser117Phe)
|
|
|
NM_000202.8(IDS):c.400G>A (p.Gly134Arg)
|
|
|
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)
|
|
|
NM_000202.8(IDS):c.670G>A (p.Gly224Arg)
|
rs2089450754
|
|
NM_000202.8(IDS):c.934G>A (p.Gly312Ser)
|
rs903259179
|
|
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr)
|
rs780106243
|
|
NM_000203.5(IDUA):c.1222G>A (p.Ala408Thr)
|
|
|
NM_000203.5(IDUA):c.1262T>C (p.Leu421Pro)
|
rs2153022602
|
|
NM_000203.5(IDUA):c.1331_1342dup (p.Arg447_Ala448insAspAspThrArg)
|
|
|
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu)
|
rs1715210316
|
|
NM_000203.5(IDUA):c.1650G>A (p.Gln550=)
|
|
|
NM_000203.5(IDUA):c.457A>G (p.Lys153Glu)
|
rs1715035049
|
|
NM_000203.5(IDUA):c.493+6C>G
|
rs376738689
|
|
NM_000203.5(IDUA):c.502G>C (p.Gly168Arg)
|
rs753308650
|
|
NM_000203.5(IDUA):c.664G>T (p.Gly222Cys)
|
rs1367413817
|
|
NM_000203.5(IDUA):c.713T>G (p.Leu238Arg)
|
|
|
NM_000204.5(CFI):c.502A>G (p.Arg168Gly)
|
|
|
NM_000204.5(CFI):c.622G>A (p.Asp208Asn)
|
|
|
NM_000206.3(IL2RG):c.395T>A (p.Leu132His)
|
rs2092261278
|
|
NM_000206.3(IL2RG):c.484C>G (p.Leu162Val)
|
rs2147749821
|
|
NM_000206.3(IL2RG):c.545G>A (p.Cys182Tyr)
|
rs1064794027
|
|
NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg)
|
rs1569479909
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
NM_000209.4(PDX1):c.97C>T (p.Pro33Ser)
|
|
|
NM_000212.3(ITGB3):c.1435G>A (p.Gly479Arg)
|
|
|
NM_000212.3(ITGB3):c.1984C>T (p.Arg662Cys)
|
rs151219882
|
|
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys)
|
rs794727618
|
|
NM_000214.3(JAG1):c.733T>C (p.Cys245Arg)
|
rs2122620282
|
|
NM_000215.4(JAK3):c.3085dup (p.Ser1029fs)
|
|
|
NM_000215.4(JAK3):c.3281del (p.Gln1094fs)
|
rs2147669921
|
|
NM_000215.4(JAK3):c.874T>G (p.Phe292Val)
|
|
|
NM_000216.4(ANOS1):c.1428G>T (p.Glu476Asp)
|
|
|
NM_000217.3(KCNA1):c.607C>T (p.His203Tyr)
|
|
|
NM_000218.3(KCNQ1):c.1128G>T (p.Gln376His)
|
rs1848577607
|
|
NM_000218.3(KCNQ1):c.1251+13C>A
|
rs201364493
|
|
NM_000218.3(KCNQ1):c.130G>C (p.Gly44Arg)
|
|
|
NM_000218.3(KCNQ1):c.1394-6C>A
|
rs759714698
|
|
NM_000218.3(KCNQ1):c.1794G>A (p.Lys598=)
|
rs794728539
|
|
NM_000218.3(KCNQ1):c.202GCCGCGCCC[3] (p.68AAP[3])
|
rs397508107
|
|
NM_000218.3(KCNQ1):c.557G>C (p.Gly186Ala)
|
rs794728568
|
|
NM_000218.3(KCNQ1):c.922-3C>A
|
rs794728515
|
|
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys)
|
rs199473645
|
|
NM_000219.6(KCNE1):c.208A>C (p.Lys70Gln)
|
rs1568836235
|
|
NM_000228.3(LAMB3):c.1096C>T (p.Arg366Trp)
|
|
|
NM_000228.3(LAMB3):c.1485+4C>T
|
|
|
NM_000228.3(LAMB3):c.242G>C (p.Arg81Pro)
|
rs978039540
|
|
NM_000228.3(LAMB3):c.2507C>T (p.Ala836Val)
|
rs1666261853
|
|
NM_000228.3(LAMB3):c.3051+3G>A
|
|
|
NM_000228.3(LAMB3):c.3228+11G>A
|
rs1420480218
|
|
NM_000228.3(LAMB3):c.3G>A (p.Met1Ile)
|
|
|
NM_000228.3(LAMB3):c.973T>C (p.Cys325Arg)
|
|
|
NM_000231.3(SGCG):c.212T>C (p.Leu71Ser)
|
|
|
NM_000231.3(SGCG):c.269T>C (p.Leu90Ser)
|
|
|
NM_000232.5(SGCB):c.12GGC[5] (p.Ala9dup)
|
rs768838951
|
|
NM_000232.5(SGCB):c.416G>A (p.Gly139Asp)
|
rs1560567653
|
|
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser)
|
rs2228159
|
|
NM_000237.3(LPL):c.1094C>T (p.Ser365Phe)
|
|
|
NM_000237.3(LPL):c.1166A>C (p.Tyr389Ser)
|
|
|
NM_000237.3(LPL):c.1309G>A (p.Glu437Lys)
|
|
|
NM_000237.3(LPL):c.1394G>A (p.Cys465Tyr)
|
rs2128839829
|
|
NM_000237.3(LPL):c.178G>T (p.Val60Leu)
|
|
|
NM_000237.3(LPL):c.250-8_250-6del
|
|
|
NM_000237.3(LPL):c.410G>A (p.Arg137Gln)
|
|
|
NM_000237.3(LPL):c.430-20A>C
|
|
|
NM_000237.3(LPL):c.464T>C (p.Leu155Pro)
|
|
|
NM_000237.3(LPL):c.89-3C>T
|
|
|
NM_000237.3(LPL):c.8G>A (p.Ser3Asn)
|
|
|
NM_000237.3(LPL):c.925C>T (p.Arg309Cys)
|
|
|
NM_000238.4(KCNH2):c.-9G>A
|
rs1287855282
|
|
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp)
|
rs199472915
|
|
NM_000238.4(KCNH2):c.235G>A (p.Ala79Thr)
|
rs794728494
|
|
NM_000238.4(KCNH2):c.2437G>A (p.Ala813Thr)
|
rs1801032078
|
|
NM_000238.4(KCNH2):c.2482T>C (p.Cys828Arg)
|
rs1801029729
|
|
NM_000238.4(KCNH2):c.2651A>G (p.Gln884Arg)
|
rs1563149602
|
|
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys)
|
rs143512106
|
|
NM_000238.4(KCNH2):c.3087_3096delinsGC (p.Ser1029fs)
|
rs1554424085
|
|
NM_000238.4(KCNH2):c.499C>G (p.Leu167Val)
|
rs1801462947
|
|
NM_000238.4(KCNH2):c.551GCGCGGGCG[4] (p.Gly189_Ala190insGlyAlaGlyGlyAlaGly)
|
rs551056698
|
|
NM_000243.2(MEFV):c.[1105C>T;1223G>A]
|
|
|
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr)
|
rs11466023
|
|
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp)
|
rs1567233429
|
|
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)
|
rs104895173
|
|
NM_000243.3(MEFV):c.1425G>T (p.Gln475His)
|
rs2141669170
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
NM_000243.3(MEFV):c.1556A>T (p.Lys519Met)
|
|
|
NM_000243.3(MEFV):c.1727-2A>C
|
|
|
NM_000243.3(MEFV):c.1727-2A>G
|
|
|
NM_000243.3(MEFV):c.176C>G (p.Thr59Ser)
|
rs1959116488
|
|
NM_000243.3(MEFV):c.1793-19A>G
|
rs1958896562
|
|
NM_000243.3(MEFV):c.1883G>A (p.Arg628Lys)
|
|
|
NM_000243.3(MEFV):c.1895G>T (p.Gly632Val)
|
|
|
NM_000243.3(MEFV):c.1920C>G (p.Ile640Met)
|
rs104895115
|
|
NM_000243.3(MEFV):c.1945C>T (p.Leu649Phe)
|
|
|
NM_000243.3(MEFV):c.2078T>A (p.Met693Lys)
|
rs749052818
|
|
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu)
|
rs545517350
|
|
NM_000243.3(MEFV):c.2177T>A (p.Val726Asp)
|
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)
|
rs104895171
|
|
NM_000243.3(MEFV):c.2332C>T (p.Gln778Ter)
|
rs1366885918
|
|
NM_000243.3(MEFV):c.277+16C>A
|
rs781767206
|
|
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)
|
rs104895103
|
|
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)
|
rs147557169
|
|
NM_000243.3(MEFV):c.378G>T (p.Gly126=)
|
rs777867857
|
|
NM_000243.3(MEFV):c.382G>C (p.Glu128Gln)
|
|
|
NM_000243.3(MEFV):c.436C>T (p.Gln146Ter)
|
rs876660990
|
|
NM_000243.3(MEFV):c.539C>A (p.Pro180Gln)
|
rs104895134
|
|
NM_000243.3(MEFV):c.623G>C (p.Ser208Thr)
|
rs759326778
|
|
NM_000243.3(MEFV):c.662C>T (p.Pro221Leu)
|
rs1431118968
|
|
NM_000243.3(MEFV):c.787C>G (p.Leu263Val)
|
rs1567237104
|
|
NM_000243.3(MEFV):c.809A>G (p.Asn270Ser)
|
rs1567237067
|
|
NM_000243.3(MEFV):c.910+4A>G
|
rs1335042159
|
|
NM_000243.3(MEFV):c.[329T>C;442G>C]
|
|
|
NM_000245.4(MET):c.1306G>C (p.Glu436Gln)
|
rs200740468
|
|
NM_000245.4(MET):c.1910C>A (p.Ser637Tyr)
|
rs2116920387
|
|
NM_000245.4(MET):c.2209A>G (p.Ser737Gly)
|
rs755571526
|
|
NM_000245.4(MET):c.3658G>C (p.Val1220Leu)
|
rs121913670
|
|
NM_000249.4(MLH1):c.*6del
|
|
|
NM_000249.4(MLH1):c.-5C>T
|
rs868796932
|
|
NM_000249.4(MLH1):c.104T>A (p.Met35Lys)
|
rs63749906
|
|
NM_000249.4(MLH1):c.1072G>A (p.Glu358Lys)
|
rs1553650621
|
|
NM_000249.4(MLH1):c.1078G>T (p.Val360Phe)
|
rs878853775
|
|
NM_000249.4(MLH1):c.1081A>G (p.Lys361Glu)
|
rs786201875
|
|
NM_000249.4(MLH1):c.1088CAA[1] (p.Thr364del)
|
rs876660192
|
|
NM_000249.4(MLH1):c.110A>G (p.Glu37Gly)
|
rs876658410
|
|
NM_000249.4(MLH1):c.1122T>G (p.Ser374Arg)
|
rs759868546
|
|
NM_000249.4(MLH1):c.1136A>T (p.Tyr379Phe)
|
rs143009528
|
|
NM_000249.4(MLH1):c.1172A>G (p.Gln391Arg)
|
rs587782884
|
|
NM_000249.4(MLH1):c.117T>G (p.Cys39Trp)
|
rs1305605404
|
|
NM_000249.4(MLH1):c.1225C>G (p.Gln409Glu)
|
rs63751153
|
|
NM_000249.4(MLH1):c.125C>T (p.Ala42Val)
|
rs587778901
|
|
NM_000249.4(MLH1):c.1284T>G (p.Asp428Glu)
|
|
|
NM_000249.4(MLH1):c.1410-3C>G
|
rs2083690867
|
|
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly)
|
rs147939838
|
|
NM_000249.4(MLH1):c.1443G>A (p.Met481Ile)
|
rs1559558400
|
|
NM_000249.4(MLH1):c.1466A>C (p.Glu489Ala)
|
rs1553652986
|
|
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)
|
rs63750226
|
|
NM_000249.4(MLH1):c.1501A>G (p.Ile501Val)
|
rs748613173
|
|
NM_000249.4(MLH1):c.1572G>C (p.Met524Ile)
|
rs587779953
|
|
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile)
|
rs587779953
|
|
NM_000249.4(MLH1):c.1606C>T (p.Pro536Ser)
|
|
|
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp)
|
rs267607843
|
|
NM_000249.4(MLH1):c.1657A>G (p.Thr553Ala)
|
rs1559575796
|
|
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe)
|
rs786202693
|
|
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val)
|
rs1559578814
|
|
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe)
|
rs63751713
|
|
NM_000249.4(MLH1):c.1766C>T (p.Ala589Val)
|
rs63750016
|
|
NM_000249.4(MLH1):c.1775G>A (p.Ser592Asn)
|
rs587782621
|
|
NM_000249.4(MLH1):c.1874A>G (p.Tyr625Cys)
|
rs748851107
|
|
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly)
|
rs1064795693
|
|
NM_000249.4(MLH1):c.1897-2A>G
|
rs267607871
|
|
NM_000249.4(MLH1):c.1918C>G (p.Pro640Ala)
|
rs63749792
|
|
NM_000249.4(MLH1):c.1924C>G (p.Leu642Val)
|
rs577217817
|
|
NM_000249.4(MLH1):c.1936T>C (p.Tyr646His)
|
rs1553663884
|
|
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro)
|
rs587778964
|
|
NM_000249.4(MLH1):c.1985C>T (p.Thr662Ile)
|
rs1559591605
|
|
NM_000249.4(MLH1):c.1993A>T (p.Asn665Tyr)
|
|
|
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)
|
rs587778972
|
|
NM_000249.4(MLH1):c.2074T>C (p.Ser692Pro)
|
rs587779957
|
|
NM_000249.4(MLH1):c.2080_2081inv (p.Glu694Ser)
|
|
|
NM_000249.4(MLH1):c.2084C>G (p.Ser695Trp)
|
rs63749995
|
|
NM_000249.4(MLH1):c.2103G>T (p.Gln701His)
|
rs63750603
|
|
NM_000249.4(MLH1):c.210A>G (p.Lys70=)
|
rs63751191
|
|
NM_000249.4(MLH1):c.2172_2173delinsAG (p.Arg725Gly)
|
rs786203433
|
|
NM_000249.4(MLH1):c.2173C>T (p.Arg725Cys)
|
rs138584384
|
|
NM_000249.4(MLH1):c.2239C>T (p.Pro747Ser)
|
rs587779958
|
|
NM_000249.4(MLH1):c.253C>G (p.Leu85Val)
|
rs63750659
|
|
NM_000249.4(MLH1):c.25C>T (p.Arg9Trp)
|
rs587779000
|
|
NM_000249.4(MLH1):c.28C>T (p.Arg10Trp)
|
rs1193754562
|
|
NM_000249.4(MLH1):c.302G>T (p.Gly101Val)
|
rs267607727
|
|
NM_000249.4(MLH1):c.314C>T (p.Ala105Val)
|
rs867655979
|
|
NM_000249.4(MLH1):c.37G>C (p.Glu13Gln)
|
rs587779008
|
|
NM_000249.4(MLH1):c.380+10T>C
|
rs1553641403
|
|
NM_000249.4(MLH1):c.453G>T (p.Thr151=)
|
rs369521379
|
|
NM_000249.4(MLH1):c.589-9_589-6del
|
rs587779026
|
|
NM_000249.4(MLH1):c.617C>T (p.Thr206Ile)
|
rs2082346831
|
|
NM_000249.4(MLH1):c.677+26dup
|
rs755619350
|
|
NM_000249.4(MLH1):c.767G>A (p.Cys256Tyr)
|
rs876659662
|
|
NM_000249.4(MLH1):c.790C>G (p.His264Asp)
|
rs63751597
|
|
NM_000249.4(MLH1):c.791-49_791-45del
|
rs1559538882
|
|
NM_000249.4(MLH1):c.793C>G (p.Arg265Gly)
|
rs63751194
|
|
NM_000249.4(MLH1):c.830A>G (p.Glu277Gly)
|
|
|
NM_000249.4(MLH1):c.885-8C>T
|
rs762836160
|
|
NM_000249.4(MLH1):c.911A>G (p.Asp304Gly)
|
rs63750993
|
|
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu)
|
rs876658657
|
|
NM_000251.3(MSH2):c.-8G>T
|
rs1064795641
|
|
NM_000251.3(MSH2):c.1033_1034insTAT (p.Gln344_Trp345insLeu)
|
rs587782374
|
|
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg)
|
rs773177076
|
|
NM_000251.3(MSH2):c.1074G>C (p.Glu358Asp)
|
rs1477257356
|
|
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr)
|
rs63751604
|
|
NM_000251.3(MSH2):c.1079T>G (p.Leu360Trp)
|
rs1558478097
|
|
NM_000251.3(MSH2):c.10C>T (p.Gln4Ter)
|
rs878853797
|
|
NM_000251.3(MSH2):c.1139T>C (p.Leu380Ser)
|
rs730881755
|
|
NM_000251.3(MSH2):c.1191A>T (p.Gln397His)
|
rs768694189
|
|
NM_000251.3(MSH2):c.1243C>T (p.Pro415Ser)
|
rs35717997
|
|
NM_000251.3(MSH2):c.126C>G (p.Phe42Leu)
|
rs730881766
|
|
NM_000251.3(MSH2):c.1303G>A (p.Val435Ile)
|
rs876658240
|
|
NM_000251.3(MSH2):c.1303G>T (p.Val435Phe)
|
rs876658240
|
|
NM_000251.3(MSH2):c.1343C>G (p.Ser448Cys)
|
rs587782524
|
|
NM_000251.3(MSH2):c.1346A>G (p.Lys449Arg)
|
rs879254064
|
|
NM_000251.3(MSH2):c.1386+8A>G
|
rs1211676028
|
|
NM_000251.3(MSH2):c.1391A>G (p.Glu464Gly)
|
rs750737783
|
|
NM_000251.3(MSH2):c.1487TAA[1] (p.Ile497del)
|
rs1666732788
|
|
NM_000251.3(MSH2):c.1523G>T (p.Gly508Val)
|
|
|
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile)
|
rs373564353
|
|
NM_000251.3(MSH2):c.1593A>C (p.Lys531Asn)
|
rs1553366599
|
|
NM_000251.3(MSH2):c.1607A>T (p.Asn536Ile)
|
rs201722703
|
|
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)
|
rs749212640
|
|
NM_000251.3(MSH2):c.1631T>C (p.Ile544Thr)
|
rs587778524
|
|
NM_000251.3(MSH2):c.1642G>T (p.Gly548Cys)
|
rs63750538
|
|
NM_000251.3(MSH2):c.1657A>G (p.Asn553Asp)
|
rs772772789
|
|
NM_000251.3(MSH2):c.1661+5G>A
|
rs267607972
|
|
NM_000251.3(MSH2):c.1662-7T>C
|
rs1558514428
|
|
NM_000251.3(MSH2):c.166G>C (p.Glu56Gln)
|
rs587779102
|
|
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly)
|
rs786201077
|
|
NM_000251.3(MSH2):c.1714_1715delinsAT (p.Glu572Ile)
|
rs1558514635
|
|
NM_000251.3(MSH2):c.1778A>T (p.Gln593Leu)
|
rs1558517711
|
|
NM_000251.3(MSH2):c.1786_1790delinsGG (p.Asn596_Asp597delinsGly)
|
rs1558517764
|
|
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro)
|
rs1553368561
|
|
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)
|
rs587779113
|
|
NM_000251.3(MSH2):c.1861C>G (p.Arg621Gly)
|
rs63750508
|
|
NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1935A>C (p.Gln645His)
|
rs587780684
|
|
NM_000251.3(MSH2):c.1967A>C (p.Tyr656Ser)
|
rs185356145
|
|
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys)
|
rs63751668
|
|
NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp)
|
rs1060502020
|
|
NM_000251.3(MSH2):c.212-4T>G
|
rs1558456954
|
|
NM_000251.3(MSH2):c.2150G>A (p.Ser717Asn)
|
rs752883472
|
|
NM_000251.3(MSH2):c.215C>G (p.Ala72Gly)
|
rs1558457009
|
|
NM_000251.3(MSH2):c.2164G>T (p.Val722Phe)
|
rs587781996
|
|
NM_000251.3(MSH2):c.2239A>G (p.Ile747Val)
|
rs1553369652
|
|
NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser)
|
rs757268664
|
|
NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg)
|
rs1060502038
|
|
NM_000251.3(MSH2):c.2342C>T (p.Ala781Val)
|
|
|
NM_000251.3(MSH2):c.2354A>C (p.His785Pro)
|
rs200252727
|
|
NM_000251.3(MSH2):c.2354A>G (p.His785Arg)
|
rs200252727
|
|
NM_000251.3(MSH2):c.2439G>C (p.Met813Ile)
|
rs587781678
|
|
NM_000251.3(MSH2):c.2458+10A>G
|
rs1269379998
|
|
NM_000251.3(MSH2):c.2458+5G>A
|
rs1667404666
|
|
NM_000251.3(MSH2):c.2459-12A>G
|
rs267608012
|
|
NM_000251.3(MSH2):c.2515C>T (p.His839Tyr)
|
|
|
NM_000251.3(MSH2):c.2525A>G (p.Glu842Gly)
|
rs373393954
|
|
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu)
|
rs63750571
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg)
|
rs587780686
|
|
NM_000251.3(MSH2):c.2680dup (p.Met894fs)
|
rs876658211
|
|
NM_000251.3(MSH2):c.2693A>C (p.Glu898Ala)
|
rs1060502037
|
|
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile)
|
rs267608022
|
|
NM_000251.3(MSH2):c.271G>T (p.Asp91Tyr)
|
rs1558457163
|
|
NM_000251.3(MSH2):c.274C>A (p.Leu92Ile)
|
rs587779154
|
|
NM_000251.3(MSH2):c.2754G>C (p.Lys918Asn)
|
rs1553370893
|
|
NM_000251.3(MSH2):c.2756A>C (p.Asn919Thr)
|
|
|
NM_000251.3(MSH2):c.275T>A (p.Leu92His)
|
rs1387584638
|
|
NM_000251.3(MSH2):c.283G>A (p.Val95Ile)
|
rs1323488764
|
|
NM_000251.3(MSH2):c.328A>C (p.Lys110Gln)
|
rs587779970
|
|
NM_000251.3(MSH2):c.367-3T>C
|
rs1558458845
|
|
NM_000251.3(MSH2):c.36G>C (p.Glu12Asp)
|
rs1558451303
|
|
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)
|
rs730881768
|
|
NM_000251.3(MSH2):c.403C>G (p.Leu135Val)
|
rs193096019
|
|
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)
|
rs193096019
|
|
NM_000251.3(MSH2):c.433A>G (p.Ile145Val)
|
rs876659264
|
|
NM_000251.3(MSH2):c.434T>C (p.Ile145Thr)
|
rs774132884
|
|
NM_000251.3(MSH2):c.464T>G (p.Val155Gly)
|
rs876658188
|
|
NM_000251.3(MSH2):c.470G>C (p.Gly157Ala)
|
rs765489269
|
|
NM_000251.3(MSH2):c.496G>T (p.Val166Leu)
|
rs1672668358
|
|
NM_000251.3(MSH2):c.506T>C (p.Ile169Thr)
|
rs1060502011
|
|
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro)
|
rs63751291
|
|
NM_000251.3(MSH2):c.667C>G (p.Leu223Val)
|
rs1558461660
|
|
NM_000251.3(MSH2):c.700A>T (p.Thr234Ser)
|
rs1212577306
|
|
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)
|
rs587779976
|
|
NM_000251.3(MSH2):c.719A>G (p.Asp240Gly)
|
rs878853822
|
|
NM_000251.3(MSH2):c.774G>T (p.Leu258Phe)
|
rs755965129
|
|
NM_000251.3(MSH2):c.789T>G (p.Asn263Lys)
|
rs878853823
|
|
NM_000251.3(MSH2):c.79C>A (p.Pro27Thr)
|
rs878853826
|
|
NM_000251.3(MSH2):c.79C>T (p.Pro27Ser)
|
rs878853826
|
|
NM_000251.3(MSH2):c.845A>C (p.Asp282Ala)
|
rs587779978
|
|
NM_000251.3(MSH2):c.845A>G (p.Asp282Gly)
|
rs587779978
|
|
NM_000251.3(MSH2):c.874A>C (p.Thr292Pro)
|
rs104895022
|
|
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)
|
rs757892928
|
|
NM_000251.3(MSH2):c.8T>G (p.Val3Gly)
|
|
|
NM_000252.3(MTM1):c.1405C>G (p.His469Asp)
|
|
|
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser)
|
rs2148488364
|
|
NM_000255.4(MMUT):c.1162A>G (p.Asn388Asp)
|
|
|
NM_000255.4(MMUT):c.1942G>A (p.Gly648Ser)
|
|
|
NM_000255.4(MMUT):c.398G>A (p.Gly133Glu)
|
|
|
NM_000255.4(MMUT):c.398G>T (p.Gly133Val)
|
|
|
NM_000255.4(MMUT):c.694A>T (p.Ile232Phe)
|
|
|
NM_000256.3(MYBPC3):c.1036C>T (p.Arg346Cys)
|
rs1236178301
|
|
NM_000256.3(MYBPC3):c.1072G>T (p.Asp358Tyr)
|
rs746267533
|
|
NM_000256.3(MYBPC3):c.1351+3G>T
|
|
|
NM_000256.3(MYBPC3):c.194C>T (p.Thr65Met)
|
rs753300898
|
|
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)
|
rs727504288
|
|
NM_000256.3(MYBPC3):c.2507T>C (p.Met836Thr)
|
rs1555121215
|
|
NM_000256.3(MYBPC3):c.2537T>A (p.Val846Asp)
|
rs193922379
|
|
NM_000256.3(MYBPC3):c.2557G>T (p.Gly853Cys)
|
|
|
NM_000256.3(MYBPC3):c.2602G>A (p.Gly868Ser)
|
rs775890771
|
|
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His)
|
rs371401403
|
|
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu)
|
rs371401403
|
|
NM_000256.3(MYBPC3):c.2737+20A>G
|
rs2095881689
|
|
NM_000256.3(MYBPC3):c.293-19C>T
|
|
|
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr)
|
rs397516041
|
|
NM_000256.3(MYBPC3):c.3815-1G>A
|
rs397516044
|
|
NM_000257.4(MYH7):c.1048T>C (p.Tyr350His)
|
rs730880863
|
|
NM_000257.4(MYH7):c.1061G>A (p.Gly354Asp)
|
rs2138677416
|
|
NM_000257.4(MYH7):c.1225G>A (p.Glu409Lys)
|
rs1892823735
|
|
NM_000257.4(MYH7):c.12_24del (p.Glu5fs)
|
|
|
NM_000257.4(MYH7):c.1588A>G (p.Ile530Val)
|
rs771831848
|
|
NM_000257.4(MYH7):c.193T>C (p.Tyr65His)
|
rs2138686468
|
|
NM_000257.4(MYH7):c.1956+20A>C
|
rs774605900
|
|
NM_000257.4(MYH7):c.200A>C (p.Lys67Thr)
|
rs2138686446
|
|
NM_000257.4(MYH7):c.2287G>A (p.Val763Met)
|
rs727504253
|
|
NM_000257.4(MYH7):c.2377C>T (p.Arg793Ter)
|
rs140175704
|
|
NM_000257.4(MYH7):c.2499C>A (p.Tyr833Ter)
|
rs397516151
|
|
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del)
|
rs193922387
|
|
NM_000257.4(MYH7):c.2923-5G>A
|
rs779010466
|
|
NM_000257.4(MYH7):c.2997del (p.Gln1000fs)
|
rs2138662562
|
|
NM_000257.4(MYH7):c.3336+20G>T
|
|
|
NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp)
|
rs727503249
|
|
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp)
|
rs730880910
|
|
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val)
|
rs397516214
|
|
NM_000257.4(MYH7):c.4463A>G (p.Tyr1488Cys)
|
rs948329167
|
|
NM_000257.4(MYH7):c.4616A>G (p.Glu1539Gly)
|
rs1446214564
|
|
NM_000257.4(MYH7):c.4720C>T (p.Arg1574Trp)
|
rs397516227
|
|
NM_000257.4(MYH7):c.4945T>A (p.Leu1649Met)
|
|
|
NM_000257.4(MYH7):c.4953+15G>T
|
|
|
NM_000257.4(MYH7):c.5075_5076delinsAA (p.Val1692Glu)
|
rs1892169334
|
|
NM_000257.4(MYH7):c.520A>G (p.Ile174Val)
|
|
|
NM_000257.4(MYH7):c.5279C>A (p.Thr1760Lys)
|
rs727505294
|
|
NM_000257.4(MYH7):c.5281G>A (p.Asp1761Asn)
|
rs1306082414
|
|
NM_000257.4(MYH7):c.5365A>G (p.Thr1789Ala)
|
|
|
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys)
|
rs730880816
|
|
NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly)
|
rs1595071680
|
|
NM_000257.4(MYH7):c.5654C>G (p.Ala1885Gly)
|
rs1892080169
|
|
NM_000257.4(MYH7):c.641G>A (p.Gly214Asp)
|
|
|
NM_000257.4(MYH7):c.692G>T (p.Gly231Val)
|
rs1380372471
|
|
NM_000257.4(MYH7):c.704C>A (p.Thr235Asn)
|
rs1892944195
|
|
NM_000257.4(MYH7):c.953C>A (p.Thr318Asn)
|
rs397516274
|
|
NM_000258.3(MYL3):c.-15T>A
|
|
|
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)
|
rs139794067
|
|
NM_000260.4(MYO7A):c.1118G>A (p.Arg373His)
|
|
|
NM_000260.4(MYO7A):c.1709G>A (p.Arg570Gln)
|
|
|
NM_000260.4(MYO7A):c.1935+6T>C
|
|
|
NM_000260.4(MYO7A):c.2423A>G (p.Gln808Arg)
|
|
|
NM_000260.4(MYO7A):c.2662A>G (p.Lys888Glu)
|
rs782227741
|
|
NM_000260.4(MYO7A):c.4268C>T (p.Thr1423Met)
|
|
|
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)
|
rs751242455
|
|
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn)
|
rs186173534
|
|
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser)
|
rs574688121
|
|
NM_000263.4(NAGLU):c.1493T>C (p.Leu498Pro)
|
|
|
NM_000263.4(NAGLU):c.203GCG[3] (p.Gly71del)
|
rs1186888836
|
|
NM_000263.4(NAGLU):c.2214G>A (p.Trp738Ter)
|
|
|
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
|
|
|
NM_000263.4(NAGLU):c.736G>C (p.Ala246Pro)
|
rs1415169705
|
|
NM_000264.5(PTCH1):c.109G>T (p.Gly37Trp)
|
rs199976372
|
|
NM_000264.5(PTCH1):c.1347G>A (p.Met449Ile)
|
|
|
NM_000264.5(PTCH1):c.2447A>G (p.Gln816Arg)
|
rs1564030731
|
|
NM_000264.5(PTCH1):c.3120C>A (p.Phe1040Leu)
|
|
|
NM_000270.4(PNP):c.286-18G>C
|
rs1026474882
|
|
NM_000270.4(PNP):c.575A>G (p.Tyr192Cys)
|
rs104894452
|
|
NM_000271.5(NPC1):c.1223T>C (p.Leu408Pro)
|
rs1567965313
|
|
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr)
|
rs201156397
|
|
NM_000271.5(NPC1):c.2246-5G>C
|
rs77289650
|
|
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys)
|
rs1555633697
|
|
NM_000271.5(NPC1):c.2366G>A (p.Arg789His)
|
rs483352891
|
|
NM_000271.5(NPC1):c.3047A>C (p.His1016Pro)
|
|
|
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro)
|
rs893564568
|
|
NM_000271.5(NPC1):c.3323C>T (p.Ala1108Val)
|
|
|
NM_000271.5(NPC1):c.3481T>C (p.Cys1161Arg)
|
|
|
NM_000271.5(NPC1):c.3493G>T (p.Val1165Leu)
|
rs748862167
|
|
NM_000271.5(NPC1):c.3817G>A (p.Glu1273Lys)
|
|
|
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr)
|
rs111256741
|
|
NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)
|
|
|
NM_000271.5(NPC1):c.57+6C>T
|
|
|
NM_000273.3(GPR143):c.248T>C (p.Leu83Pro)
|
|
|
NM_000273.3(GPR143):c.553G>A (p.Glu185Lys)
|
|
|
NM_000274.4(OAT):c.272G>A (p.Gly91Glu)
|
rs386833603
|
|
NM_000275.3(OCA2):c.1044+3A>G
|
|
|
NM_000275.3(OCA2):c.1243T>C (p.Tyr415His)
|
|
|
NM_000275.3(OCA2):c.1342C>T (p.Leu448Phe)
|
|
|
NM_000275.3(OCA2):c.1418T>G (p.Ile473Ser)
|
|
|
NM_000275.3(OCA2):c.1592A>G (p.Tyr531Cys)
|
|
|
NM_000275.3(OCA2):c.2051T>G (p.Phe684Cys)
|
|
|
NM_000275.3(OCA2):c.2279A>T (p.Glu760Val)
|
|
|
NM_000276.4(OCRL):c.1082G>T (p.Arg361Ile)
|
rs137853832
|
|
NM_000276.4(OCRL):c.2680T>G (p.Phe894Val)
|
|
|
NM_000276.4(OCRL):c.439+6A>G
|
|
|
NM_000277.3(PAH):c.1013A>C (p.Asp338Ala)
|
rs1169310686
|
|
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn)
|
rs63329263
|
|
NM_000277.3(PAH):c.1150C>T (p.Pro384Ser)
|
rs1555203677
|
|
NM_000277.3(PAH):c.1181A>C (p.Asp394Ala)
|
rs62516102
|
|
NM_000277.3(PAH):c.1198A>C (p.Arg400=)
|
rs199475593
|
|
NM_000277.3(PAH):c.1199+5G>A
|
|
|
NM_000277.3(PAH):c.1315A>G (p.Ser439Gly)
|
|
|
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)
|
rs62517167
|
|
NM_000277.3(PAH):c.302A>G (p.Asp101Gly)
|
rs1877425793
|
|
NM_000277.3(PAH):c.332G>A (p.Arg111Gln)
|
|
|
NM_000277.3(PAH):c.385G>C (p.Asp129His)
|
|
|
NM_000277.3(PAH):c.467C>A (p.Ala156Glu)
|
|
|
NM_000277.3(PAH):c.509A>C (p.His170Pro)
|
rs199475573
|
|
NM_000277.3(PAH):c.679C>A (p.Leu227Met)
|
|
|
NM_000277.3(PAH):c.934G>C (p.Gly312Arg)
|
rs763115697
|
|
NM_000277.3(PAH):c.961C>A (p.Leu321Ile)
|
|
|
NM_000282.4(PCCA):c.1160C>G (p.Ala387Gly)
|
rs1484267212
|
|
NM_000282.4(PCCA):c.1209+6dup
|
rs746645726
|
|
NM_000282.4(PCCA):c.2061T>G (p.Ile687Met)
|
|
|
NM_000282.4(PCCA):c.729A>T (p.Arg243Ser)
|
|
|
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg)
|
rs879253805
|
|
NM_000284.4(PDHA1):c.1009-22_1057dup
|
rs1569193991
|
|
NM_000284.4(PDHA1):c.1018G>A (p.Val340Met)
|
rs1569194022
|
|
NM_000284.4(PDHA1):c.1170_1171dup (p.Ter391PheextTer?)
|
|
|
NM_000284.4(PDHA1):c.328C>G (p.Pro110Ala)
|
|
|
NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)
|
|
|
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del)
|
rs751058068
|
|
NM_000287.4(PEX6):c.10_69del (p.Ala4_Leu23del)
|
|
|
NM_000287.4(PEX6):c.1130+4T>C
|
|
|
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp)
|
rs769896492
|
|
NM_000287.4(PEX6):c.2552C>G (p.Pro851Arg)
|
rs2114237567
|
|
NM_000287.4(PEX6):c.659G>T (p.Gly220Val)
|
rs267608203
|
|
NM_000288.4(PEX7):c.-1G>A
|
|
|
NM_000288.4(PEX7):c.401A>T (p.Asp134Val)
|
|
|
NM_000288.4(PEX7):c.490T>C (p.Ser164Pro)
|
rs62653607
|
|
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln)
|
rs267608257
|
|
NM_000288.4(PEX7):c.947del (p.Pro316fs)
|
rs2115300156
|
|
NM_000291.4(PGK1):c.488A>G (p.Asn163Ser)
|
|
|
NM_000291.4(PGK1):c.545C>T (p.Pro182Leu)
|
|
|
NM_000292.3(PHKA2):c.1787G>A (p.Gly596Glu)
|
|
|
NM_000292.3(PHKA2):c.3544A>G (p.Ile1182Val)
|
|
|
NM_000292.3(PHKA2):c.993T>G (p.Phe331Leu)
|
|
|
NM_000293.3(PHKB):c.1A>G (p.Met1Val)
|
|
|
NM_000293.3(PHKB):c.2336+4del
|
|
|
NM_000293.3(PHKB):c.2398A>G (p.Ile800Val)
|
|
|
NM_000293.3(PHKB):c.3266C>G (p.Pro1089Arg)
|
rs763764574
|
|
NM_000294.3(PHKG2):c.965C>G (p.Ala322Gly)
|
rs930832189
|
|
NM_000294.3(PHKG2):c.980G>A (p.Arg327His)
|
|
|
NM_000294.3(PHKG2):c.986G>A (p.Arg329Gln)
|
|
|
NM_000295.5(SERPINA1):c.1093G>C (p.Asp365His)
|
|
|
NM_000295.5(SERPINA1):c.1178C>A (p.Pro393His)
|
|
|
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del)
|
rs778896252
|
|
NM_000298.6(PKLR):c.1070T>A (p.Ile357Asn)
|
|
|
NM_000298.6(PKLR):c.997A>G (p.Ile333Val)
|
|
|
NM_000301.5(PLG):c.399C>A (p.His133Gln)
|
|
|
NM_000301.5(PLG):c.50-4C>G
|
|
|
NM_000301.5(PLG):c.554G>A (p.Cys185Tyr)
|
|
|
NM_000301.5(PLG):c.848A>G (p.Tyr283Cys)
|
rs2115163630
|
|
NM_000302.4(PLOD1):c.-19C>T
|
|
|
NM_000302.4(PLOD1):c.1615T>C (p.Tyr539His)
|
|
|
NM_000302.4(PLOD1):c.1898C>G (p.Thr633Ser)
|
|
|
NM_000302.4(PLOD1):c.557T>C (p.Ile186Thr)
|
|
|
NM_000303.3(PMM2):c.424A>G (p.Ile142Val)
|
rs1256479593
|
|
NM_000303.3(PMM2):c.430T>G (p.Phe144Val)
|
|
|
NM_000303.3(PMM2):c.523G>C (p.Gly175Arg)
|
|
|
NM_000303.3(PMM2):c.739T>C (p.Ter247Gln)
|
rs1555453271
|
|
NM_000303.3(PMM2):c.98A>C (p.Gln33Pro)
|
|
|
NM_000305.3(PON2):c.*4G>A
|
|
|
NM_000305.3(PON2):c.-15C>T
|
|
|
NM_000305.3(PON2):c.139G>A (p.Gly47Arg)
|
|
|
NM_000305.3(PON2):c.195del (p.Phe65fs)
|
rs1201102139
|
|
NM_000305.3(PON2):c.286del (p.Arg96fs)
|
rs548392448
|
|
NM_000305.3(PON2):c.310C>T (p.Arg104Cys)
|
|
|
NM_000305.3(PON2):c.695+7C>T
|
|
|
NM_000305.3(PON2):c.698A>G (p.Tyr233Cys)
|
|
|
NM_000305.3(PON2):c.75-4A>G
|
|
|
NM_000306.4(POU1F1):c.3G>C (p.Met1Ile)
|
|
|
NM_000307.5(POU3F4):c.359C>A (p.Pro120Gln)
|
|
|
NM_000308.4(CTSA):c.1344dup (p.Phe449fs)
|
|
|
NM_000308.4(CTSA):c.359T>C (p.Ile120Thr)
|
rs1601139705
|
|
NM_000308.4(CTSA):c.51_52del (p.Leu18fs)
|
|
|
NM_000308.4(CTSA):c.526G>A (p.Gly176Arg)
|
|
|
NM_000310.4(PPT1):c.433G>A (p.Gly145Ser)
|
rs369186379
|
|
NM_000310.4(PPT1):c.920G>T (p.Ter307Leu)
|
|
|
NM_000311.5(PRNP):c.222_245del (p.60PHGGGWGQ[3])
|
rs754362804
|
|
NM_000311.5(PRNP):c.714_716del (p.Pro239del)
|
rs2122231073
|
|
NM_000312.4(PROC):c.1277G>A (p.Cys426Tyr)
|
|
|
NM_000312.4(PROC):c.487G>C (p.Ala163Pro)
|
|
|
NM_000312.4(PROC):c.487G>T (p.Ala163Ser)
|
|
|
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del)
|
rs199469469
|
|
NM_000314.6(PTEN):c.-850C>T
|
rs559145151
|
|
NM_000314.6(PTEN):c.-868G>C
|
rs587782133
|
|
NM_000314.6(PTEN):c.-881A>C
|
|
|
NM_000314.6(PTEN):c.-892delT
|
rs1554889944
|
|
NM_000314.6(PTEN):c.-903G>C
|
rs1044322
|
|
NM_000314.6(PTEN):c.-903_-882dup
|
rs786204888
|
|
NM_000314.8(PTEN):c.*10del
|
rs756681683
|
|
NM_000314.8(PTEN):c.-751G>T
|
|
|
NM_000314.8(PTEN):c.-752G>A
|
rs1256922808
|
|
NM_000314.8(PTEN):c.-771G>A
|
rs786202516
|
|
NM_000314.8(PTEN):c.-773C>T
|
rs922418729
|
|
NM_000314.8(PTEN):c.-797G>A
|
|
|
NM_000314.8(PTEN):c.-797G>C
|
|
|
NM_000314.8(PTEN):c.-814G>A
|
rs876661178
|
|
NM_000314.8(PTEN):c.-819A>G
|
rs931643553
|
|
NM_000314.8(PTEN):c.-821C>G
|
rs1064793784
|
|
NM_000314.8(PTEN):c.-838C>T
|
rs786201900
|
|
NM_000314.8(PTEN):c.-844T>G
|
|
|
NM_000314.8(PTEN):c.-851C>A
|
rs559145151
|
|
NM_000314.8(PTEN):c.-910T>G
|
rs550385924
|
|
NM_000314.8(PTEN):c.1018A>C (p.Asn340His)
|
rs759852661
|
|
NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp)
|
rs587782345
|
|
NM_000314.8(PTEN):c.1066A>T (p.Asn356Tyr)
|
rs587782345
|
|
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu)
|
rs1554893792
|
|
NM_000314.8(PTEN):c.210-7C>T
|
|
|
NM_000314.8(PTEN):c.504T>G (p.Ile168Met)
|
|
|
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln)
|
rs121909235
|
|
NM_000314.8(PTEN):c.725A>T (p.Glu242Val)
|
rs1860545768
|
|
NM_000314.8(PTEN):c.80-1_80del
|
rs1554893747
|
|
NM_000314.8(PTEN):c.80-8del
|
rs1060503844
|
|
NM_000314.8(PTEN):c.802-3T>A
|
rs587780712
|
|
NM_000314.8(PTEN):c.808A>G (p.Met270Val)
|
rs1554825502
|
|
NM_000314.8(PTEN):c.824T>C (p.Val275Ala)
|
|
|
NM_000314.8(PTEN):c.838A>G (p.Ile280Val)
|
rs1474354667
|
|
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn)
|
rs587780007
|
|
NM_000314.8(PTEN):c.935A>G (p.Asp312Gly)
|
rs863224667
|
|
NM_000317.3(PTS):c.25C>T (p.Arg9Cys)
|
rs1859865664
|
|
NM_000318.3(PEX2):c.254A>T (p.Tyr85Phe)
|
rs1563606761
|
|
NM_000320.3(QDPR):c.647_655dup (p.Ile216_Gly218dup)
|
rs757385912
|
|
NM_000324.3(RHAG):c.572G>A (p.Arg191Gln)
|
|
|
NM_000324.3(RHAG):c.827C>G (p.Thr276Ser)
|
|
|
NM_000326.5(RLBP1):c.12+4A>G
|
|
|
NM_000326.5(RLBP1):c.12+6T>C
|
|
|
NM_000326.5(RLBP1):c.525G>C (p.Glu175Asp)
|
rs753278812
|
|
NM_000326.5(RLBP1):c.780_794del (p.Ser260_Glu264del)
|
rs2150968673
|
|
NM_000329.3(RPE65):c.1007T>C (p.Phe336Ser)
|
|
|
NM_000329.3(RPE65):c.1088C>T (p.Pro363Leu)
|
|
|
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del)
|
rs1557595745
|
|
NM_000329.3(RPE65):c.542C>T (p.Pro181Leu)
|
|
|
NM_000329.3(RPE65):c.643+5G>A
|
rs61752890
|
|
NM_000330.4(RS1):c.404G>C (p.Gly135Ala)
|
|
|
NM_000330.4(RS1):c.527T>C (p.Phe176Ser)
|
|
|
NM_000334.4(SCN4A):c.3682G>A (p.Asp1228Asn)
|
|
|
NM_000334.4(SCN4A):c.483-5C>T
|
rs191547933
|
|
NM_000335.5(SCN5A):c.1366G>C (p.Val456Leu)
|
|
|
NM_000335.5(SCN5A):c.1813G>A (p.Gly605Arg)
|
rs1553704001
|
|
NM_000335.5(SCN5A):c.1862C>A (p.Pro621His)
|
|
|
NM_000335.5(SCN5A):c.2403G>C (p.Met801Ile)
|
rs1559758625
|
|
NM_000335.5(SCN5A):c.301A>C (p.Thr101Pro)
|
rs2062506882
|
|
NM_000335.5(SCN5A):c.3208GAG[2] (p.Glu1072del)
|
rs758282196
|
|
NM_000335.5(SCN5A):c.3580C>T (p.Arg1194Cys)
|
rs864622440
|
|
NM_000335.5(SCN5A):c.3913C>T (p.Arg1305Cys)
|
rs1403211358
|
|
NM_000335.5(SCN5A):c.3944G>C (p.Arg1315Pro)
|
rs765907469
|
|
NM_000335.5(SCN5A):c.4340T>C (p.Ile1447Thr)
|
rs199473251
|
|
NM_000335.5(SCN5A):c.4412A>T (p.Asn1471Ile)
|
rs199473255
|
|
NM_000335.5(SCN5A):c.4499T>C (p.Leu1500Pro)
|
rs1060501132
|
|
NM_000335.5(SCN5A):c.4832T>C (p.Ile1611Thr)
|
rs1553693063
|
|
NM_000335.5(SCN5A):c.5317A>T (p.Asn1773Tyr)
|
rs199473633
|
|
NM_000335.5(SCN5A):c.5454_5455inv (p.Ala1819Thr)
|
|
|
NM_000335.5(SCN5A):c.5815G>A (p.Asp1939Asn)
|
rs2061011231
|
|
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met)
|
rs41315493
|
|
NM_000335.5(SCN5A):c.592T>C (p.Phe198Leu)
|
|
|
NM_000335.5(SCN5A):c.6044T>A (p.Val2015Glu)
|
|
|
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys)
|
rs199473082
|
|
NM_000335.5(SCN5A):c.922C>G (p.Leu308Val)
|
rs2062079664
|
|
NM_000336.3(SCNN1B):c.1859A>G (p.Tyr620Cys)
|
|
|
NM_000338.3(SLC12A1):c.2761+2dup
|
|
|
NM_000340.2(SLC2A2):c.457_462del (p.Leu153_Ile154del)
|
rs763620441
|
|
NM_000341.4(SLC3A1):c.1307C>T (p.Pro436Leu)
|
|
|
NM_000341.4(SLC3A1):c.1518G>C (p.Lys506Asn)
|
|
|
NM_000341.4(SLC3A1):c.1A>G (p.Met1Val)
|
|
|
NM_000341.4(SLC3A1):c.899T>C (p.Leu300Ser)
|
|
|
NM_000344.4(SMN1):c.*10C>A
|
rs1749796858
|
|
NM_000344.4(SMN1):c.*2G>C
|
rs1286965446
|
|
NM_000344.4(SMN1):c.*4G>A
|
rs1749796463
|
|
NM_000344.4(SMN1):c.*6A>G
|
rs1749796591
|
|
NM_000344.4(SMN1):c.835-13A>G
|
rs1561503068
|
|
NM_000344.4(SMN1):c.835-13A>T
|
rs1561503068
|
|
NM_000344.4(SMN1):c.835-13del
|
rs1561503075
|
|
NM_000344.4(SMN1):c.835-15T>G
|
rs1554082375
|
|
NM_000344.4(SMN1):c.835-17C>G
|
rs1749768663
|
|
NM_000344.4(SMN1):c.835-17C>T
|
rs1749768663
|
|
NM_000344.4(SMN1):c.835-18C>T
|
rs1554082373
|
|
NM_000344.4(SMN1):c.835-19T>A
|
rs1749768312
|
|
NM_000344.4(SMN1):c.835-21C>A
|
rs1292776799
|
|
NM_000344.4(SMN1):c.835-24del
|
rs555928635
|
|
NM_000344.4(SMN1):c.835-29T>G
|
rs1554082368
|
|
NM_000344.4(SMN1):c.835-31T>G
|
rs1749767005
|
|
NM_000344.4(SMN1):c.835-4dup
|
rs1554082376
|
|
NM_000344.4(SMN1):c.836G>A (p.Gly279Asp)
|
rs76163360
|
|
NM_000344.4(SMN1):c.837T>C (p.Gly279=)
|
rs1561503108
|
|
NM_000344.4(SMN1):c.842G>C (p.Arg281Thr)
|
rs1561503124
|
|
NM_000344.4(SMN1):c.847A>C (p.Asn283His)
|
rs1561503132
|
|
NM_000344.4(SMN1):c.861_864del (p.Arg288fs)
|
|
|
NM_000344.4(SMN1):c.883T>G (p.Ter295Glu)
|
rs1749775863
|
|
NM_000348.4(SRD5A2):c.196G>A (p.Gly66Arg)
|
|
|
NM_000348.4(SRD5A2):c.601T>A (p.Trp201Arg)
|
|
|
NM_000348.4(SRD5A2):c.698G>A (p.Arg233Lys)
|
|
|
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser)
|
rs368846708
|
|
NM_000350.3(ABCA4):c.4535C>G (p.Pro1512Arg)
|
rs61750150
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn)
|
rs1571242070
|
|
NM_000350.3(ABCA4):c.740A>C (p.Asn247Thr)
|
|
|
NM_000352.6(ABCC8):c.1069G>A (p.Val357Ile)
|
|
|
NM_000352.6(ABCC8):c.1112C>T (p.Thr371Ile)
|
|
|
NM_000352.6(ABCC8):c.1453C>A (p.Gln485Lys)
|
rs1956391008
|
|
NM_000352.6(ABCC8):c.1881T>G (p.His627Gln)
|
|
|
NM_000352.6(ABCC8):c.1912T>C (p.Tyr638His)
|
|
|
NM_000352.6(ABCC8):c.214A>G (p.Asn72Asp)
|
rs2133728894
|
|
NM_000352.6(ABCC8):c.2292-16G>A
|
|
|
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly)
|
rs1484689392
|
|
NM_000352.6(ABCC8):c.2630G>A (p.Arg877Gln)
|
|
|
NM_000352.6(ABCC8):c.267T>G (p.Ile89Met)
|
|
|
NM_000352.6(ABCC8):c.343A>G (p.Met115Val)
|
rs146695489
|
|
NM_000352.6(ABCC8):c.3785C>T (p.Ala1262Val)
|
|
|
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met)
|
rs193922403
|
|
NM_000352.6(ABCC8):c.443T>C (p.Ile148Thr)
|
|
|
NM_000352.6(ABCC8):c.4486G>A (p.Val1496Met)
|
|
|
NM_000352.6(ABCC8):c.4606G>C (p.Ala1536Pro)
|
|
|
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met)
|
rs193922408
|
|
NM_000352.6(ABCC8):c.46C>T (p.Arg16Trp)
|
rs1591935006
|
|
NM_000352.6(ABCC8):c.524T>A (p.Leu175Gln)
|
rs1554943599
|
|
NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp)
|
rs372930264
|
|
NM_000352.6(ABCC8):c.86A>G (p.Asp29Gly)
|
|
|
NM_000352.6(ABCC8):c.890G>T (p.Arg297Met)
|
rs371802112
|
|
NM_000353.3(TAT):c.709G>C (p.Ala237Pro)
|
|
|
NM_000359.3(TGM1):c.1201T>G (p.Phe401Val)
|
|
|
NM_000359.3(TGM1):c.991T>C (p.Ser331Pro)
|
|
|
NM_000360.4(TH):c.1147G>T (p.Gly383Trp)
|
|
|
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)
|
rs575326605
|
|
NM_000360.4(TH):c.1229G>T (p.Arg410Leu)
|
rs367874223
|
|
NM_000360.4(TH):c.145C>T (p.Arg49Trp)
|
rs1312843586
|
|
NM_000360.4(TH):c.56C>G (p.Ser19Cys)
|
|
|
NM_000360.4(TH):c.990C>G (p.His330Gln)
|
|
|
NM_000363.5(TNNI3):c.288G>C (p.Leu96Phe)
|
rs1599909725
|
|
NM_000363.5(TNNI3):c.298C>T (p.Leu100Phe)
|
rs773216333
|
|
NM_000363.5(TNNI3):c.511G>A (p.Ala171Thr)
|
rs121917761
|
|
NM_000363.5(TNNI3):c.562G>A (p.Val188Met)
|
rs193922409
|
|
NM_000363.5(TNNI3):c.88G>A (p.Ala30Thr)
|
rs796104366
|
|
NM_000368.5(TSC1):c.1030-5C>T
|
rs1588323218
|
|
NM_000368.5(TSC1):c.1717C>G (p.Gln573Glu)
|
rs118203565
|
|
NM_000368.5(TSC1):c.2041+6_2041+7dup
|
rs1845540759
|
|
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln)
|
rs761281095
|
|
NM_000368.5(TSC1):c.3329C>G (p.Thr1110Ser)
|
rs952996030
|
|
NM_000369.5(TSHR):c.1169G>T (p.Cys390Phe)
|
|
|
NM_000369.5(TSHR):c.1591C>T (p.Arg531Trp)
|
|
|
NM_000369.5(TSHR):c.1897G>A (p.Asp633Asn)
|
|
|
NM_000369.5(TSHR):c.2098A>G (p.Lys700Glu)
|
|
|
NM_000370.3(TTPA):c.574C>T (p.Arg192Cys)
|
|
|
NM_000370.3(TTPA):c.837A>G (p.Ter279Trp)
|
|
|
NM_000370.3(TTPA):c.88G>C (p.Ala30Pro)
|
rs2129796265
|
|
NM_000370.3(TTPA):c.92T>A (p.Leu31Gln)
|
rs2129796215
|
|
NM_000371.4(TTR):c.*9TCC[1]
|
rs766223850
|
|
NM_000371.4(TTR):c.186G>T (p.Glu62Asp)
|
rs1340627860
|
|
NM_000371.4(TTR):c.69+6T>C
|
|
|
NM_000371.4(TTR):c.88T>G (p.Cys30Gly)
|
|
|
NM_000372.5(TYR):c.1026T>G (p.Asn342Lys)
|
|
|
NM_000372.5(TYR):c.1109T>C (p.Met370Thr)
|
rs61754385
|
|
NM_000372.5(TYR):c.1379T>C (p.Phe460Ser)
|
|
|
NM_000372.5(TYR):c.1556_1557del (p.Glu519fs)
|
rs765024056
|
|
NM_000372.5(TYR):c.982G>A (p.Glu328Lys)
|
rs61754380
|
|
NM_000373.4(UMPS):c.499G>A (p.Gly167Arg)
|
rs184856674
|
|
NM_000377.3(WAS):c.1259T>C (p.Val420Ala)
|
|
|
NM_000377.3(WAS):c.1289G>T (p.Gly430Val)
|
rs1557007328
|
|
NM_000377.3(WAS):c.164T>C (p.Leu55Pro)
|
rs2062412293
|
|
NM_000377.3(WAS):c.229G>A (p.Asp77Asn)
|
rs2147262921
|
|
NM_000377.3(WAS):c.800T>G (p.Leu267Arg)
|
|
|
NM_000379.4(XDH):c.1041C>A (p.Ser347=)
|
|
|
NM_000379.4(XDH):c.1981G>C (p.Val661Leu)
|
|
|
NM_000380.4(XPA):c.674-2A>G
|
|
|
NM_000380.4(XPA):c.817dup (p.Met273fs)
|
rs754458042
|
|
NM_000381.4(MID1):c.1663A>G (p.Ile555Val)
|
rs398123341
|
|
NM_000381.4(MID1):c.1841C>T (p.Ser614Phe)
|
|
|
NM_000381.4(MID1):c.778G>A (p.Ala260Thr)
|
|
|
NM_000382.3(ALDH3A2):c.1202G>A (p.Gly401Glu)
|
rs1010078101
|
|
NM_000382.3(ALDH3A2):c.154-6_154-2del
|
|
|
NM_000383.4(AIRE):c.65T>G (p.Val22Gly)
|
|
|
NM_000383.4(AIRE):c.799-17G>A
|
rs72650675
|
|
NM_000383.4(AIRE):c.884A>G (p.Asn295Ser)
|
rs2040534330
|
|
NM_000384.3(APOB):c.10304T>A (p.Ile3435Asn)
|
|
|
NM_000384.3(APOB):c.10345A>G (p.Lys3449Glu)
|
rs967810441
|
|
NM_000384.3(APOB):c.10403T>A (p.Met3468Lys)
|
rs1572778607
|
|
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
|
|
|
NM_000384.3(APOB):c.10753A>G (p.Ser3585Gly)
|
|
|
NM_000384.3(APOB):c.10874A>G (p.Asn3625Ser)
|
rs1663126182
|
|
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)
|
rs760832994
|
|
NM_000384.3(APOB):c.4246_4251del (p.Asn1416_Thr1417del)
|
rs767878127
|
|
NM_000387.6(SLC25A20):c.206C>T (p.Thr69Met)
|
|
|
NM_000387.6(SLC25A20):c.47C>T (p.Ala16Val)
|
rs2083928547
|
|
NM_000387.6(SLC25A20):c.646G>T (p.Gly216Trp)
|
|
|
NM_000387.6(SLC25A20):c.658G>A (p.Gly220Arg)
|
rs2083603903
|
|
NM_000388.4(CASR):c.1037G>A (p.Gly346Asp)
|
rs2107632791
|
|
NM_000388.4(CASR):c.107G>T (p.Gly36Val)
|
rs1559955372
|
|
NM_000388.4(CASR):c.1199A>T (p.Asn400Ile)
|
rs576643925
|
|
NM_000388.4(CASR):c.1223A>G (p.Tyr408Cys)
|
rs2074636776
|
|
NM_000388.4(CASR):c.1258G>A (p.Val420Met)
|
rs2107633175
|
|
NM_000388.4(CASR):c.1262A>G (p.Tyr421Cys)
|
rs2107633181
|
|
NM_000388.4(CASR):c.1268C>A (p.Ala423Glu)
|
rs2107633192
|
|
NM_000388.4(CASR):c.1444T>C (p.Cys482Arg)
|
rs774174934
|
|
NM_000388.4(CASR):c.1522G>A (p.Val508Ile)
|
|
|
NM_000388.4(CASR):c.1562T>C (p.Leu521Pro)
|
|
|
NM_000388.4(CASR):c.1619C>T (p.Ser540Phe)
|
rs1057518409
|
|
NM_000388.4(CASR):c.1685G>A (p.Cys562Tyr)
|
|
|
NM_000388.4(CASR):c.173T>A (p.Val58Glu)
|
rs2107625078
|
|
NM_000388.4(CASR):c.1802A>G (p.Lys601Arg)
|
rs2107649424
|
|
NM_000388.4(CASR):c.1853T>G (p.Leu618Arg)
|
rs2107649522
|
|
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu)
|
rs201852643
|
|
NM_000388.4(CASR):c.1933G>A (p.Ala645Thr)
|
rs2107649636
|
|
NM_000388.4(CASR):c.1949T>C (p.Leu650Pro)
|
rs2107649656
|
|
NM_000388.4(CASR):c.1997T>C (p.Leu666Pro)
|
rs2107649736
|
|
NM_000388.4(CASR):c.2014_2025del (p.Pro672_Trp675del)
|
rs2107649784
|
|
NM_000388.4(CASR):c.205C>T (p.Arg69Cys)
|
rs1313627454
|
|
NM_000388.4(CASR):c.2087T>C (p.Leu696Pro)
|
rs2107649925
|
|
NM_000388.4(CASR):c.2096C>G (p.Thr699Ser)
|
|
|
NM_000388.4(CASR):c.2254C>T (p.Arg752Cys)
|
rs193922434
|
|
NM_000388.4(CASR):c.2295C>G (p.Cys765Trp)
|
rs1232096655
|
|
NM_000388.4(CASR):c.2332G>C (p.Gly778Arg)
|
rs1479933693
|
|
NM_000388.4(CASR):c.2335T>C (p.Tyr779His)
|
rs766889439
|
|
NM_000388.4(CASR):c.2448C>G (p.Ile816Met)
|
rs781343891
|
|
NM_000388.4(CASR):c.2458T>G (p.Ser820Ala)
|
rs2074939020
|
|
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp)
|
rs193922436
|
|
NM_000388.4(CASR):c.2657G>A (p.Arg886Gln)
|
rs1057520791
|
|
NM_000388.4(CASR):c.281G>A (p.Gly94Glu)
|
rs1576854356
|
|
NM_000388.4(CASR):c.310G>A (p.Val104Ile)
|
rs2074564250
|
|
NM_000388.4(CASR):c.372C>A (p.Asn124Lys)
|
rs757571398
|
|
NM_000388.4(CASR):c.472G>A (p.Gly158Arg)
|
rs2107627885
|
|
NM_000388.4(CASR):c.494T>G (p.Val165Gly)
|
rs1559958757
|
|
NM_000388.4(CASR):c.496A>G (p.Ser166Gly)
|
rs193922441
|
|
NM_000388.4(CASR):c.518T>A (p.Leu173His)
|
|
|
NM_000388.4(CASR):c.554G>T (p.Arg185Leu)
|
rs104893689
|
|
NM_000388.4(CASR):c.580_581delinsCT (p.Ala194Leu)
|
|
|
NM_000388.4(CASR):c.614G>T (p.Arg205Leu)
|
rs763162046
|
|
NM_000388.4(CASR):c.725T>C (p.Leu242Pro)
|
rs1064794676
|
|
NM_000388.4(CASR):c.791C>G (p.Ala264Gly)
|
|
|
NM_000388.4(CASR):c.893C>T (p.Ala298Val)
|
rs1064797049
|
|
NM_000388.4(CASR):c.89G>A (p.Gly30Glu)
|
rs1553765889
|
|
NM_000390.4(CHM):c.217C>G (p.Pro73Ala)
|
|
|
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro)
|
rs1060502179
|
|
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro)
|
rs1554902028
|
|
NM_000393.5(COL5A2):c.1015G>A (p.Gly339Arg)
|
|
|
NM_000393.5(COL5A2):c.1555G>A (p.Gly519Arg)
|
|
|
NM_000393.5(COL5A2):c.1577A>G (p.Asn526Ser)
|
rs1553515522
|
|
NM_000393.5(COL5A2):c.1796C>T (p.Pro599Leu)
|
|
|
NM_000393.5(COL5A2):c.1977+4T>C
|
rs1686064895
|
|
NM_000393.5(COL5A2):c.217A>G (p.Lys73Glu)
|
|
|
NM_000393.5(COL5A2):c.2189A>T (p.Glu730Val)
|
|
|
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val)
|
rs778501601
|
|
NM_000393.5(COL5A2):c.3322C>A (p.Pro1108Thr)
|
|
|
NM_000393.5(COL5A2):c.4422C>G (p.Ile1474Met)
|
|
|
NM_000396.4(CTSK):c.263A>C (p.Gln88Pro)
|
rs762212949
|
|
NM_000396.4(CTSK):c.541T>C (p.Tyr181His)
|
rs868112062
|
|
NM_000397.4(CYBB):c.1565C>T (p.Thr522Ile)
|
|
|
NM_000397.4(CYBB):c.674+34T>G
|
rs1569479417
|
|
NM_000397.4(CYBB):c.674+62dup
|
rs1569479419
|
|
NM_000398.7(CYB5R3):c.7del (p.Ala3fs)
|
|
|
NM_000400.4(ERCC2):c.1133G>A (p.Arg378His)
|
|
|
NM_000400.4(ERCC2):c.1348C>T (p.Arg450Cys)
|
|
|
NM_000400.4(ERCC2):c.1780G>C (p.Ala594Pro)
|
|
|
NM_000400.4(ERCC2):c.5+6A>C
|
rs751637822
|
|
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu)
|
rs727503953
|
|
NM_000404.4(GLB1):c.168C>G (p.His56Gln)
|
rs745385633
|
|
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys)
|
rs759483184
|
|
NM_000404.4(GLB1):c.2009_2010del (p.Lys670fs)
|
|
|
NM_000404.4(GLB1):c.203G>T (p.Arg68Leu)
|
rs572237881
|
|
NM_000404.4(GLB1):c.982C>T (p.Pro328Ser)
|
rs1244404381
|
|
NM_000407.5(GP1BB):c.*11G>C
|
|
|
NM_000407.5(GP1BB):c.433C>T (p.Pro145Ser)
|
|
|
NM_000407.5(GP1BB):c.544G>T (p.Ala182Ser)
|
rs542853528
|
|
NM_000410.4(HFE):c.145G>T (p.Ala49Ser)
|
|
|
NM_000410.4(HFE):c.282G>T (p.Trp94Cys)
|
|
|
NM_000410.4(HFE):c.282_283delinsTC (p.Trp94_Asp95delinsCysHis)
|
|
|
NM_000410.4(HFE):c.617-8_617-4del
|
|
|
NM_000410.4(HFE):c.814G>A (p.Val272Ile)
|
|
|
NM_000410.4(HFE):c.814G>T (p.Val272Leu)
|
|
|
NM_000410.4(HFE):c.817C>T (p.Pro273Ser)
|
|
|
NM_000412.5(HRG):c.1325G>A (p.Gly442Asp)
|
|
|
NM_000414.4(HSD17B4):c.595C>T (p.Arg199Trp)
|
|
|
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys)
|
rs387906825
|
|
NM_000414.4(HSD17B4):c.714+3A>G
|
|
|
NM_000416.3(IFNGR1):c.-19A>G
|
|
|
NM_000419.5(ITGA2B):c.1374C>G (p.Ile458Met)
|
rs372294932
|
|
NM_000419.5(ITGA2B):c.1585A>C (p.Ile529Leu)
|
|
|
NM_000419.5(ITGA2B):c.1600+16G>T
|
rs199614885
|
|
NM_000419.5(ITGA2B):c.1729C>A (p.His577Asn)
|
|
|
NM_000419.5(ITGA2B):c.188+8del
|
rs560275529
|
|
NM_000419.5(ITGA2B):c.1945G>A (p.Val649Met)
|
|
|
NM_000419.5(ITGA2B):c.2264G>A (p.Arg755Gln)
|
|
|
NM_000419.5(ITGA2B):c.2384A>C (p.Glu795Ala)
|
|
|
NM_000419.5(ITGA2B):c.2773G>A (p.Glu925Lys)
|
|
|
NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln)
|
rs879255514
|
|
NM_000419.5(ITGA2B):c.3102TGA[1] (p.Asp1035del)
|
|
|
NM_000426.4(LAMA2):c.1782+2_1782+3insTT
|
|
|
NM_000426.4(LAMA2):c.3758T>G (p.Leu1253Arg)
|
|
|
NM_000426.4(LAMA2):c.3832G>T (p.Gly1278Cys)
|
rs571035066
|
|
NM_000426.4(LAMA2):c.4342T>C (p.Cys1448Arg)
|
|
|
NM_000426.4(LAMA2):c.4850A>G (p.Gln1617Arg)
|
rs890490995
|
|
NM_000426.4(LAMA2):c.5654A>G (p.Lys1885Arg)
|
rs2114694787
|
|
NM_000426.4(LAMA2):c.595T>A (p.Cys199Ser)
|
rs886043693
|
|
NM_000426.4(LAMA2):c.6992+3T>G
|
|
|
NM_000426.4(LAMA2):c.7216T>C (p.Ser2406Pro)
|
rs2114809893
|
|
NM_000426.4(LAMA2):c.7749+6C>T
|
|
|
NM_000426.4(LAMA2):c.8614A>G (p.Ser2872Gly)
|
|
|
NM_000429.3(MAT1A):c.934C>T (p.Arg312Trp)
|
|
|
NM_000431.4(MVK):c.605G>A (p.Gly202Glu)
|
|
|
NM_000431.4(MVK):c.943C>G (p.Leu315Val)
|
|
|
NM_000432.4(MYL2):c.169+20C>T
|
|
|
NM_000432.4(MYL2):c.181G>C (p.Val61Leu)
|
rs730880949
|
|
NM_000432.4(MYL2):c.188del (p.Asn63fs)
|
rs1177936172
|
|
NM_000432.4(MYL2):c.359G>C (p.Arg120Pro)
|
|
|
NM_000432.4(MYL2):c.488A>C (p.Glu163Ala)
|
rs397516407
|
|
NM_000435.3(NOTCH3):c.1099G>A (p.Asp367Asn)
|
|
|
NM_000435.3(NOTCH3):c.118+19G>T
|
|
|
NM_000435.3(NOTCH3):c.1788del (p.Lys596fs)
|
rs1303316005
|
|
NM_000435.3(NOTCH3):c.2741_2742delinsAG (p.Pro914Gln)
|
rs2145423971
|
|
NM_000435.3(NOTCH3):c.2793-4C>G
|
|
|
NM_000435.3(NOTCH3):c.2926G>A (p.Val976Ile)
|
rs771899820
|
|
NM_000435.3(NOTCH3):c.352T>G (p.Ser118Ala)
|
|
|
NM_000435.3(NOTCH3):c.3616A>G (p.Ile1206Val)
|
|
|
NM_000435.3(NOTCH3):c.3884A>G (p.Glu1295Gly)
|
|
|
NM_000435.3(NOTCH3):c.4585_4586delinsAA (p.Ala1529Asn)
|
rs2046767691
|
|
NM_000440.3(PDE6A):c.1066-9del
|
|
|
NM_000440.3(PDE6A):c.2368C>T (p.Arg790Cys)
|
|
|
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del)
|
rs767540194
|
|
NM_000441.2(SLC26A4):c.1286C>A (p.Ala429Glu)
|
rs753269996
|
|
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp)
|
rs1314376649
|
|
NM_000441.2(SLC26A4):c.2090A>G (p.Asp697Gly)
|
|
|
NM_000441.2(SLC26A4):c.2091T>G (p.Asp697Glu)
|
|
|
NM_000441.2(SLC26A4):c.2171A>T (p.Asp724Val)
|
|
|
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)
|
rs111033310
|
|
NM_000441.2(SLC26A4):c.2291del (p.Thr764fs)
|
|
|
NM_000441.2(SLC26A4):c.487G>C (p.Val163Leu)
|
|
|
NM_000441.2(SLC26A4):c.497G>A (p.Ser166Asn)
|
|
|
NM_000441.2(SLC26A4):c.587T>A (p.Val196Asp)
|
|
|
NM_000441.2(SLC26A4):c.596T>C (p.Ile199Thr)
|
|
|
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp)
|
rs121918441
|
|
NM_000443.4(ABCB4):c.212T>A (p.Leu71His)
|
|
|
NM_000443.4(ABCB4):c.3280-8G>T
|
rs1808206321
|
|
NM_000443.4(ABCB4):c.3367G>A (p.Asp1123Asn)
|
rs866301089
|
|
NM_000443.4(ABCB4):c.808G>C (p.Gly270Arg)
|
rs551234479
|
|
NM_000444.6(PHEX):c.751A>G (p.Lys251Glu)
|
|
|
NM_000447.3(PSEN2):c.457del (p.Thr153fs)
|
|
|
NM_000448.3(RAG1):c.145AAG[1] (p.Lys50del)
|
|
|
NM_000448.3(RAG1):c.1519C>T (p.Arg507Trp)
|
rs104894298
|
|
NM_000448.3(RAG1):c.1856C>T (p.Pro619Leu)
|
|
|
NM_000448.3(RAG1):c.2029C>G (p.Pro677Ala)
|
rs773165685
|
|
NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys)
|
|
|
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
|
|
|
NM_000448.3(RAG1):c.2657T>C (p.Met886Thr)
|
|
|
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln)
|
rs1064793249
|
|
NM_000448.3(RAG1):c.276C>A (p.His92Gln)
|
rs550985019
|
|
NM_000451.3:c.(?_-692)_(-433+1_-432-1)del
|
|
|
NM_000451.4(SHOX):c.277+20G>C
|
|
|
NM_000451.4(SHOX):c.277+8C>T
|
|
|
NM_000451.4(SHOX):c.401G>T (p.Arg134Leu)
|
|
|
NM_000451.4(SHOX):c.439C>A (p.Arg147Ser)
|
rs2124165990
|
|
NM_000451.4(SHOX):c.486+5G>A
|
|
|
NM_000451.4(SHOX):c.486+8C>G
|
rs374705909
|
|
NM_000451.4(SHOX):c.486G>C (p.Gln162His)
|
|
|
NM_000451.4(SHOX):c.506G>A (p.Arg169Lys)
|
rs2052840553
|
|
NM_000451.4(SHOX):c.751G>A (p.Ala251Thr)
|
|
|
NM_000453.3(SLC5A5):c.471C>A (p.Asn157Lys)
|
|
|
NM_000454.5(SOD1):c.357+2T>G
|
rs2123435671
|
|
NM_000455.5(STK11):c.103A>G (p.Ile35Val)
|
rs587781437
|
|
NM_000455.5(STK11):c.1063G>A (p.Asp355Asn)
|
rs769403473
|
|
NM_000455.5(STK11):c.113C>G (p.Pro38Arg)
|
rs1568690036
|
|
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser)
|
rs768780695
|
|
NM_000455.5(STK11):c.1205C>G (p.Thr402Ser)
|
rs750055790
|
|
NM_000455.5(STK11):c.1243C>T (p.Arg415Cys)
|
rs864622448
|
|
NM_000455.5(STK11):c.1282T>A (p.Ser428Thr)
|
rs1064793938
|
|
NM_000455.5(STK11):c.1283C>G (p.Ser428Trp)
|
rs587781537
|
|
NM_000455.5(STK11):c.374+6del
|
rs2080759180
|
|
NM_000455.5(STK11):c.397G>A (p.Val133Met)
|
rs567769257
|
|
NM_000455.5(STK11):c.407T>C (p.Met136Thr)
|
rs1060499958
|
|
NM_000455.5(STK11):c.425G>A (p.Ser142Asn)
|
rs1568705518
|
|
NM_000455.5(STK11):c.463G>A (p.Gly155Arg)
|
rs763353991
|
|
NM_000455.5(STK11):c.465-5C>A
|
rs567202367
|
|
NM_000455.5(STK11):c.621C>A (p.Asp207Glu)
|
|
|
NM_000455.5(STK11):c.634A>G (p.Thr212Ala)
|
rs1300171938
|
|
NM_000455.5(STK11):c.735-3A>G
|
rs864622128
|
|
NM_000455.5(STK11):c.767A>T (p.Glu256Val)
|
rs2145426849
|
|
NM_000455.5(STK11):c.863-5_863-3del
|
rs764739106
|
|
NM_000455.5(STK11):c.946G>T (p.Ala316Ser)
|
rs864622303
|
|
NM_000458.4(HNF1B):c.*111G>C
|
|
|
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
|
|
|
NM_000458.4(HNF1B):c.352C>G (p.Pro118Ala)
|
|
|
NM_000458.4(HNF1B):c.58G>A (p.Gly20Arg)
|
rs1052557621
|
|
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
|
|
|
NM_000459.5(TEK):c.1217T>G (p.Val406Gly)
|
|
|
NM_000460.4(THPO):c.957G>C (p.Gln319His)
|
|
|
NM_000463.3(UGT1A1):c.1458C>A (p.Tyr486Ter)
|
|
|
NM_000463.3(UGT1A1):c.1463C>T (p.Ser488Phe)
|
rs72551360
|
|
NM_000463.3(UGT1A1):c.1469A>C (p.Asp490Ala)
|
|
|
NM_000465.4(BARD1):c.1045A>C (p.Lys349Gln)
|
rs1401955290
|
|
NM_000465.4(BARD1):c.1079C>G (p.Pro360Arg)
|
|
|
NM_000465.4(BARD1):c.1136A>G (p.Lys379Arg)
|
rs750827325
|
|
NM_000465.4(BARD1):c.1153G>A (p.Asp385Asn)
|
rs587782436
|
|
NM_000465.4(BARD1):c.1256A>G (p.Asn419Ser)
|
rs776723079
|
|
NM_000465.4(BARD1):c.1270A>G (p.Arg424Gly)
|
rs1553622123
|
|
NM_000465.4(BARD1):c.128G>C (p.Arg43Pro)
|
rs1060501305
|
|
NM_000465.4(BARD1):c.1309A>G (p.Ile437Val)
|
rs764592698
|
|
NM_000465.4(BARD1):c.133G>A (p.Glu45Lys)
|
rs1553628365
|
|
NM_000465.4(BARD1):c.1457T>C (p.Leu486Ser)
|
rs1559410003
|
|
NM_000465.4(BARD1):c.1470C>G (p.Thr490=)
|
rs758895846
|
|
NM_000465.4(BARD1):c.1549G>A (p.Gly517Arg)
|
rs1553619208
|
|
NM_000465.4(BARD1):c.1620A>T (p.Lys540Asn)
|
rs747076015
|
|
NM_000465.4(BARD1):c.1652C>T (p.Ser551Leu)
|
rs587781707
|
|
NM_000465.4(BARD1):c.1677+5G>A
|
rs587780019
|
|
NM_000465.4(BARD1):c.1678-3C>G
|
rs1693089932
|
|
NM_000465.4(BARD1):c.1772T>A (p.Ile591Asn)
|
rs879254291
|
|
NM_000465.4(BARD1):c.1819GTT[2] (p.Val609del)
|
rs927014703
|
|
NM_000465.4(BARD1):c.1840G>A (p.Val614Ile)
|
rs760541768
|
|
NM_000465.4(BARD1):c.1883G>A (p.Cys628Tyr)
|
rs1227794803
|
|
NM_000465.4(BARD1):c.1904-3C>T
|
rs876660360
|
|
NM_000465.4(BARD1):c.1912G>A (p.Ala638Thr)
|
rs756136465
|
|
NM_000465.4(BARD1):c.2126C>T (p.Pro709Leu)
|
rs786203474
|
|
NM_000465.4(BARD1):c.2159_2172del (p.Val720fs)
|
rs1692211675
|
|
NM_000465.4(BARD1):c.223G>T (p.Val75Leu)
|
|
|
NM_000465.4(BARD1):c.2292A>G (p.Ile764Met)
|
rs1692192973
|
|
NM_000465.4(BARD1):c.233G>C (p.Cys78Ser)
|
rs199780731
|
|
NM_000465.4(BARD1):c.26_40del (p.4_8NRQPR[1])
|
rs587781979
|
|
NM_000465.4(BARD1):c.27C>A (p.Asn9Lys)
|
rs1038616344
|
|
NM_000465.4(BARD1):c.282_291delinsT (p.Leu95_Ile97del)
|
rs1064795485
|
|
NM_000465.4(BARD1):c.365-3C>G
|
rs1695036239
|
|
NM_000465.4(BARD1):c.389A>C (p.Lys130Thr)
|
rs1174079177
|
|
NM_000465.4(BARD1):c.566C>T (p.Ala189Val)
|
rs864622686
|
|
NM_000465.4(BARD1):c.575C>A (p.Ser192Tyr)
|
rs587782482
|
|
NM_000465.4(BARD1):c.728G>A (p.Cys243Tyr)
|
rs767432527
|
|
NM_000465.4(BARD1):c.792C>G (p.Gly264=)
|
|
|
NM_000465.4(BARD1):c.847G>A (p.Ala283Thr)
|
rs923851371
|
|
NM_000465.4(BARD1):c.907G>A (p.Val303Ile)
|
rs375048835
|
|
NM_000465.4(BARD1):c.978T>A (p.Asn326Lys)
|
rs1553622318
|
|
NM_000465.4(BARD1):c.98C>T (p.Ala33Val)
|
rs1559454402
|
|
NM_000466.3(PEX1):c.1663T>C (p.Ser555Pro)
|
rs773827098
|
|
NM_000466.3(PEX1):c.3833dup (p.Lys1279fs)
|
|
|
NM_000466.3(PEX1):c.472+5G>A
|
rs1792887658
|
|
NM_000474.4(TWIST1):c.260_271del (p.Ala87_Gly90del)
|
|
|
NM_000474.4(TWIST1):c.295A>G (p.Ser99Gly)
|
|
|
NM_000478.6(ALPL):c.1024G>A (p.Glu342Lys)
|
|
|
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr)
|
rs1553414563
|
|
NM_000478.6(ALPL):c.1228T>C (p.Phe410Leu)
|
rs1644740176
|
|
NM_000478.6(ALPL):c.1446C>A (p.His482Gln)
|
|
|
NM_000478.6(ALPL):c.1483G>A (p.Gly495Ser)
|
rs761079751
|
|
NM_000478.6(ALPL):c.178G>C (p.Asp60His)
|
rs1644472852
|
|
NM_000478.6(ALPL):c.368C>A (p.Ala123Asp)
|
rs1188506084
|
|
NM_000478.6(ALPL):c.565G>A (p.Asp189Asn)
|
|
|
NM_000478.6(ALPL):c.577C>G (p.Pro193Ala)
|
|
|
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro)
|
rs121918004
|
|
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala)
|
rs121918018
|
|
NM_000478.6(ALPL):c.935TGG[3] (p.Val315del)
|
rs756329108
|
|
NM_000479.5(AMH):c.1097C>T (p.Pro366Leu)
|
|
|
NM_000479.5(AMH):c.136C>G (p.Pro46Ala)
|
|
|
NM_000479.5(AMH):c.466G>A (p.Ala156Thr)
|
|
|
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)
|
rs1167886830
|
|
NM_000481.4(AMT):c.1106A>G (p.Tyr369Cys)
|
|
|
NM_000481.4(AMT):c.266T>G (p.Ile89Arg)
|
rs2049102715
|
|
NM_000481.4(AMT):c.850G>C (p.Val284Leu)
|
|
|
NM_000484.4(APP):c.-516C>G
|
|
|
NM_000484.4(APP):c.1498G>A (p.Ala500Thr)
|
|
|
NM_000484.4(APP):c.1549A>C (p.Met517Leu)
|
|
|
NM_000484.4(APP):c.2212G>A (p.Val738Ile)
|
|
|
NM_000484.4(APP):c.272C>A (p.Pro91Gln)
|
|
|
NM_000484.4(APP):c.433G>A (p.Glu145Lys)
|
|
|
NM_000484.4(APP):c.819CAC[8] (p.Thr280dup)
|
rs527890624
|
|
NM_000487.6(ARSA):c.1198T>G (p.Phe400Val)
|
|
|
NM_000487.6(ARSA):c.1279C>T (p.Pro427Ser)
|
|
|
NM_000487.6(ARSA):c.1528T>C (p.Ter510Arg)
|
|
|
NM_000487.6(ARSA):c.218C>T (p.Pro73Leu)
|
|
|
NM_000487.6(ARSA):c.465G>A (p.Gln155=)
|
rs199476377
|
|
NM_000487.6(ARSA):c.466G>C (p.Gly156Arg)
|
|
|
NM_000487.6(ARSA):c.565G>A (p.Val189Met)
|
|
|
NM_000487.6(ARSA):c.697C>A (p.Pro233Thr)
|
rs74315469
|
|
NM_000487.6(ARSA):c.731C>T (p.Ser244Leu)
|
|
|
NM_000487.6(ARSA):c.737G>T (p.Arg246Leu)
|
|
|
NM_000487.6(ARSA):c.869G>T (p.Arg290Leu)
|
|
|
NM_000489.6(ATRX):c.1186A>C (p.Lys396Gln)
|
rs2071415045
|
|
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn)
|
rs2071413817
|
|
NM_000489.6(ATRX):c.3737-8C>T
|
rs2070862607
|
|
NM_000489.6(ATRX):c.4314_4316dup (p.Asn1438_Lys1439insAsn)
|
|
|
NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp)
|
rs141240580
|
|
NM_000489.6(ATRX):c.862G>A (p.Glu288Lys)
|
|
|
NM_000492.3(CFTR):c.3376_3381delGAAGGA
|
rs1554392764
|
|
NM_000492.4(CFTR):c.-34C>T
|
rs756314710
|
|
NM_000492.4(CFTR):c.1019T>A (p.Ile340Asn)
|
rs1554381352
|
|
NM_000492.4(CFTR):c.1027T>C (p.Cys343Arg)
|
rs2116684275
|
|
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.1059A>C (p.Gln353His)
|
rs1800087
|
|
NM_000492.4(CFTR):c.1070C>T (p.Ala357Val)
|
|
|
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys)
|
rs76879328
|
|
NM_000492.4(CFTR):c.1076A>G (p.Gln359Arg)
|
rs397508153
|
|
NM_000492.4(CFTR):c.1079C>A (p.Thr360Lys)
|
rs75053309
|
|
NM_000492.4(CFTR):c.1090T>C (p.Ser364Pro)
|
rs78909279
|
|
NM_000492.4(CFTR):c.1116+6G>A
|
|
|
NM_000492.4(CFTR):c.1117-135del
|
rs992074991
|
|
NM_000492.4(CFTR):c.1117-136_1117-132del
|
|
|
NM_000492.4(CFTR):c.1119T>G (p.Asp373Glu)
|
|
|
NM_000492.4(CFTR):c.112T>C (p.Tyr38His)
|
|
|
NM_000492.4(CFTR):c.1163C>A (p.Thr388Lys)
|
|
|
NM_000492.4(CFTR):c.1175T>C (p.Val392Ala)
|
rs397508170
|
|
NM_000492.4(CFTR):c.1177G>C (p.Val393Leu)
|
rs1562892874
|
|
NM_000492.4(CFTR):c.117A>T (p.Gln39His)
|
rs764522674
|
|
NM_000492.4(CFTR):c.1196C>T (p.Ala399Val)
|
rs146463120
|
|
NM_000492.4(CFTR):c.1210-15G>A
|
rs947648829
|
|
NM_000492.4(CFTR):c.1210-6del
|
rs1805177
|
|
NM_000492.4(CFTR):c.1211G>T (p.Gly404Val)
|
rs1324302547
|
|
NM_000492.4(CFTR):c.1220A>T (p.Glu407Val)
|
rs397508180
|
|
NM_000492.4(CFTR):c.128T>C (p.Val43Ala)
|
|
|
NM_000492.4(CFTR):c.1291A>G (p.Ser431Gly)
|
|
|
NM_000492.4(CFTR):c.1300T>C (p.Ser434Pro)
|
rs1799212931
|
|
NM_000492.4(CFTR):c.1307T>C (p.Leu436Pro)
|
rs1554382639
|
|
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)
|
rs397508191
|
|
NM_000492.4(CFTR):c.134C>G (p.Ser45Cys)
|
rs1798380222
|
|
NM_000492.4(CFTR):c.1351G>A (p.Gly451Arg)
|
|
|
NM_000492.4(CFTR):c.1357TTG[1] (p.Leu454del)
|
rs397508194
|
|
NM_000492.4(CFTR):c.1360_1365delinsGCT (p.Leu454del)
|
|
|
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.1385C>G (p.Ala462Gly)
|
rs1422519885
|
|
NM_000492.4(CFTR):c.1451A>G (p.His484Arg)
|
rs1427892651
|
|
NM_000492.4(CFTR):c.1472G>C (p.Cys491Ser)
|
|
|
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe)
|
rs778205742
|
|
NM_000492.4(CFTR):c.1478A>C (p.Gln493Pro)
|
rs397508214
|
|
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg)
|
rs1554384382
|
|
NM_000492.4(CFTR):c.1492A>G (p.Met498Val)
|
rs1562898400
|
|
NM_000492.4(CFTR):c.1495C>G (p.Pro499Ala)
|
rs397508219
|
|
NM_000492.4(CFTR):c.1517T>G (p.Ile506Ser)
|
rs397508224
|
|
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met)
|
rs1800092
|
|
NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly)
|
rs397508226
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1564A>G (p.Lys522Glu)
|
rs1483458563
|
|
NM_000492.4(CFTR):c.1583A>G (p.Glu528Gly)
|
rs1562898548
|
|
NM_000492.4(CFTR):c.1584G>C (p.Glu528Asp)
|
|
|
NM_000492.4(CFTR):c.1589T>A (p.Ile530Asn)
|
|
|
NM_000492.4(CFTR):c.1590C>G (p.Ile530Met)
|
|
|
NM_000492.4(CFTR):c.1597T>C (p.Phe533Leu)
|
rs397508238
|
|
NM_000492.4(CFTR):c.1625G>A (p.Gly542Glu)
|
|
|
NM_000492.4(CFTR):c.164+3A>G
|
|
|
NM_000492.4(CFTR):c.164+4T>A
|
|
|
NM_000492.4(CFTR):c.164+9A>T
|
rs397508245
|
|
NM_000492.4(CFTR):c.164G>T (p.Arg55Ile)
|
|
|
NM_000492.4(CFTR):c.1669T>A (p.Ser557Thr)
|
|
|
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
|
|
|
NM_000492.4(CFTR):c.1678A>G (p.Arg560Gly)
|
rs397508260
|
|
NM_000492.4(CFTR):c.1679+18G>T
|
rs369294289
|
|
NM_000492.4(CFTR):c.1680-853del
|
rs2116023034
|
|
NM_000492.4(CFTR):c.1680-893T>C
|
rs1223503684
|
|
NM_000492.4(CFTR):c.1680-992dup
|
rs1791993504
|
|
NM_000492.4(CFTR):c.1681G>A (p.Ala561Thr)
|
rs1226880376
|
|
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu)
|
rs1800097
|
|
NM_000492.4(CFTR):c.1696G>A (p.Ala566Thr)
|
rs397508271
|
|
NM_000492.4(CFTR):c.1704G>T (p.Leu568Phe)
|
rs397508275
|
|
NM_000492.4(CFTR):c.1718C>G (p.Ser573Cys)
|
|
|
NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser)
|
rs397508292
|
|
NM_000492.4(CFTR):c.1756A>G (p.Ile586Val)
|
|
|
NM_000492.4(CFTR):c.1775G>A (p.Cys592Tyr)
|
|
|
NM_000492.4(CFTR):c.1783A>G (p.Met595Val)
|
rs750140050
|
|
NM_000492.4(CFTR):c.184G>C (p.Ala62Pro)
|
rs1584776330
|
|
NM_000492.4(CFTR):c.1858C>T (p.His620Tyr)
|
|
|
NM_000492.4(CFTR):c.1872C>A (p.Ser624Arg)
|
|
|
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala)
|
rs1554389290
|
|
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile)
|
rs397508317
|
|
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu)
|
rs200204024
|
|
NM_000492.4(CFTR):c.2014G>A (p.Glu672Lys)
|
|
|
NM_000492.4(CFTR):c.2052A>C (p.Lys684Asn)
|
rs750642366
|
|
NM_000492.4(CFTR):c.2125C>G (p.Arg709Gly)
|
rs121908760
|
|
NM_000492.4(CFTR):c.212A>G (p.Asn71Ser)
|
rs1003610229
|
|
NM_000492.4(CFTR):c.2194T>G (p.Leu732Val)
|
rs2116032346
|
|
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu)
|
rs1800076
|
|
NM_000492.4(CFTR):c.226T>C (p.Cys76Arg)
|
|
|
NM_000492.4(CFTR):c.228T>G (p.Cys76Trp)
|
rs777536750
|
|
NM_000492.4(CFTR):c.2346C>A (p.Asn782Lys)
|
rs397508369
|
|
NM_000492.4(CFTR):c.2373_2377delinsCC (p.Arg792_Lys793delinsGln)
|
|
|
NM_000492.4(CFTR):c.2402A>G (p.Asn801Ser)
|
rs1562908192
|
|
NM_000492.4(CFTR):c.2407A>T (p.Thr803Ser)
|
rs1792049314
|
|
NM_000492.4(CFTR):c.2419A>G (p.Ile807Val)
|
|
|
NM_000492.4(CFTR):c.2437T>C (p.Ser813Pro)
|
|
|
NM_000492.4(CFTR):c.2490+11A>G
|
rs1482271794
|
|
NM_000492.4(CFTR):c.2493G>T (p.Glu831Asp)
|
rs1301647941
|
|
NM_000492.4(CFTR):c.2519T>C (p.Ile840Thr)
|
|
|
NM_000492.4(CFTR):c.251A>G (p.Tyr84Cys)
|
|
|
NM_000492.4(CFTR):c.2531C>T (p.Thr844Ile)
|
rs1792097477
|
|
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe)
|
rs780187979
|
|
NM_000492.4(CFTR):c.2619+3A>G
|
rs397508408
|
|
NM_000492.4(CFTR):c.2620-26_2620-25insG
|
rs776600589
|
|
NM_000492.4(CFTR):c.2657+12A>G
|
rs1792246845
|
|
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg)
|
rs397508417
|
|
NM_000492.4(CFTR):c.2681A>G (p.Asn894Ser)
|
|
|
NM_000492.4(CFTR):c.273+10240A>G
|
|
|
NM_000492.4(CFTR):c.273+10255del
|
rs193922507
|
|
NM_000492.4(CFTR):c.2733T>G (p.Ser911Arg)
|
rs1562911534
|
|
NM_000492.4(CFTR):c.2752A>G (p.Ile918Val)
|
rs1267646551
|
|
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu)
|
rs373885282
|
|
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp)
|
rs397508432
|
|
NM_000492.4(CFTR):c.2777T>C (p.Leu926Ser)
|
rs757410423
|
|
NM_000492.4(CFTR):c.2812G>T (p.Val938Leu)
|
rs749784731
|
|
NM_000492.4(CFTR):c.2845C>T (p.His949Tyr)
|
rs121909035
|
|
NM_000492.4(CFTR):c.2875G>A (p.Ala959Thr)
|
|
|
NM_000492.4(CFTR):c.2916_2917delinsAT (p.Leu973Phe)
|
rs397508459
|
|
NM_000492.4(CFTR):c.2936A>G (p.Asp979Gly)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2971A>G (p.Ile991Val)
|
|
|
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr)
|
rs397508468
|
|
NM_000492.4(CFTR):c.2978A>G (p.Asp993Gly)
|
|
|
NM_000492.4(CFTR):c.2988+3A>G
|
rs2116069964
|
|
NM_000492.4(CFTR):c.2988+47dup
|
rs149902649
|
|
NM_000492.4(CFTR):c.2988+4T>C
|
|
|
NM_000492.4(CFTR):c.29G>A (p.Ser10Asn)
|
rs762241850
|
|
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)
|
rs397508480
|
|
NM_000492.4(CFTR):c.3037C>T (p.Pro1013Ser)
|
rs978796108
|
|
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.3064G>C (p.Val1022Leu)
|
rs144441835
|
|
NM_000492.4(CFTR):c.3073G>T (p.Ala1025Ser)
|
|
|
NM_000492.4(CFTR):c.3161A>T (p.His1054Leu)
|
rs1417435640
|
|
NM_000492.4(CFTR):c.3167T>C (p.Val1056Ala)
|
rs2116084150
|
|
NM_000492.4(CFTR):c.3254A>C (p.His1085Pro)
|
rs79635528
|
|
NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala)
|
rs373043500
|
|
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn)
|
rs397508522
|
|
NM_000492.4(CFTR):c.3277C>G (p.Leu1093Val)
|
|
|
NM_000492.4(CFTR):c.3335T>G (p.Ile1112Ser)
|
rs1792393459
|
|
NM_000492.4(CFTR):c.3352T>C (p.Ser1118Pro)
|
|
|
NM_000492.4(CFTR):c.3356T>C (p.Ile1119Thr)
|
rs1562914851
|
|
NM_000492.4(CFTR):c.3367+222_3367+223insGT
|
rs2116087630
|
|
NM_000492.4(CFTR):c.3367+238_3367+259del
|
rs1283255059
|
|
NM_000492.4(CFTR):c.3368-78dup
|
|
|
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del)
|
rs397508548
|
|
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala)
|
rs397508550
|
|
NM_000492.4(CFTR):c.340_342del (p.Lys114del)
|
rs1554379808
|
|
NM_000492.4(CFTR):c.3457G>C (p.Val1153Leu)
|
|
|
NM_000492.4(CFTR):c.3461A>G (p.Asp1154Gly)
|
rs397508569
|
|
NM_000492.4(CFTR):c.3469-3C>A
|
|
|
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln)
|
rs1800120
|
|
NM_000492.4(CFTR):c.3530A>G (p.Lys1177Arg)
|
|
|
NM_000492.4(CFTR):c.3551A>T (p.Asn1184Ile)
|
|
|
NM_000492.4(CFTR):c.3577A>G (p.Ile1193Val)
|
rs1562919375
|
|
NM_000492.4(CFTR):c.3590A>T (p.His1197Leu)
|
rs765133036
|
|
NM_000492.4(CFTR):c.3601G>T (p.Asp1201Tyr)
|
rs1182767623
|
|
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys)
|
rs371475225
|
|
NM_000492.4(CFTR):c.3680T>C (p.Leu1227Ser)
|
rs397508593
|
|
NM_000492.4(CFTR):c.3682G>A (p.Glu1228Lys)
|
rs759116351
|
|
NM_000492.4(CFTR):c.3683A>G (p.Glu1228Gly)
|
|
|
NM_000492.4(CFTR):c.3689T>C (p.Ile1230Thr)
|
|
|
NM_000492.4(CFTR):c.3764C>T (p.Ser1255Leu)
|
rs76649725
|
|
NM_000492.4(CFTR):c.3797A>G (p.Glu1266Gly)
|
|
|
NM_000492.4(CFTR):c.3809A>G (p.Asp1270Gly)
|
|
|
NM_000492.4(CFTR):c.3849G>C (p.Arg1283Ser)
|
rs1792935893
|
|
NM_000492.4(CFTR):c.3851A>G (p.Lys1284Arg)
|
rs2116167703
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
NM_000492.4(CFTR):c.3857T>G (p.Phe1286Cys)
|
rs121909028
|
|
NM_000492.4(CFTR):c.3859G>A (p.Gly1287Arg)
|
rs1792936385
|
|
NM_000492.4(CFTR):c.3862G>A (p.Val1288Met)
|
|
|
NM_000492.4(CFTR):c.3873+28dup
|
|
|
NM_000492.4(CFTR):c.3873+5G>A
|
|
|
NM_000492.4(CFTR):c.3898T>C (p.Phe1300Leu)
|
|
|
NM_000492.4(CFTR):c.3915T>A (p.Asp1305Glu)
|
rs397508640
|
|
NM_000492.4(CFTR):c.3937C>A (p.Gln1313Lys)
|
rs121909026
|
|
NM_000492.4(CFTR):c.3945A>G (p.Ile1315Met)
|
rs1554396417
|
|
NM_000492.4(CFTR):c.3946T>C (p.Trp1316Arg)
|
|
|
NM_000492.4(CFTR):c.3953T>C (p.Val1318Ala)
|
rs397508648
|
|
NM_000492.4(CFTR):c.3963+15T>C
|
rs1269502695
|
|
NM_000492.4(CFTR):c.3963+5G>C
|
|
|
NM_000492.4(CFTR):c.3964-18_3964-16delinsCAG
|
|
|
NM_000492.4(CFTR):c.3964-3C>A
|
|
|
NM_000492.4(CFTR):c.3970C>T (p.Leu1324Phe)
|
|
|
NM_000492.4(CFTR):c.4009T>G (p.Phe1337Val)
|
rs397508659
|
|
NM_000492.4(CFTR):c.4015C>T (p.Leu1339Phe)
|
rs397508660
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4085G>A (p.Ser1362Asn)
|
rs777892053
|
|
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4114C>A (p.Pro1372Thr)
|
rs397508676
|
|
NM_000492.4(CFTR):c.4121C>G (p.Ala1374Gly)
|
rs115147093
|
|
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His)
|
rs150683293
|
|
NM_000492.4(CFTR):c.4137-9C>T
|
rs1562929122
|
|
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His)
|
rs397508682
|
|
NM_000492.4(CFTR):c.418C>G (p.Pro140Ala)
|
|
|
NM_000492.4(CFTR):c.4242+20C>T
|
rs1229413013
|
|
NM_000492.4(CFTR):c.4242+5G>A
|
rs1562929196
|
|
NM_000492.4(CFTR):c.4243-16A>G
|
rs780125251
|
|
NM_000492.4(CFTR):c.4262T>A (p.Val1421Glu)
|
|
|
NM_000492.4(CFTR):c.4264C>T (p.Arg1422Trp)
|
rs373172017
|
|
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr)
|
rs762847468
|
|
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg)
|
rs753173837
|
|
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)
|
rs35516286
|
|
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly)
|
rs1554379882
|
|
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)
|
rs397508725
|
|
NM_000492.4(CFTR):c.482A>G (p.Tyr161Cys)
|
rs397508730
|
|
NM_000492.4(CFTR):c.489+4A>G
|
|
|
NM_000492.4(CFTR):c.489+8T>C
|
rs727504712
|
|
NM_000492.4(CFTR):c.489G>A (p.Lys163=)
|
rs397508733
|
|
NM_000492.4(CFTR):c.490A>C (p.Thr164Pro)
|
|
|
NM_000492.4(CFTR):c.495A>C (p.Leu165Phe)
|
rs2116674883
|
|
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)
|
rs578029902
|
|
NM_000492.4(CFTR):c.52A>G (p.Ser18Gly)
|
|
|
NM_000492.4(CFTR):c.53+34_53+35del
|
rs762372419
|
|
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile)
|
rs397508751
|
|
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)
|
rs397508753
|
|
NM_000492.4(CFTR):c.560A>G (p.Asn187Ser)
|
|
|
NM_000492.4(CFTR):c.563T>C (p.Leu188Pro)
|
rs766640075
|
|
NM_000492.4(CFTR):c.575A>T (p.Asp192Val)
|
rs397508758
|
|
NM_000492.4(CFTR):c.579+4T>C
|
|
|
NM_000492.4(CFTR):c.592G>A (p.Ala198Thr)
|
rs193922529
|
|
NM_000492.4(CFTR):c.592G>C (p.Ala198Pro)
|
rs193922529
|
|
NM_000492.4(CFTR):c.593C>T (p.Ala198Val)
|
rs73215910
|
|
NM_000492.4(CFTR):c.5A>C (p.Gln2Pro)
|
rs1797976959
|
|
NM_000492.4(CFTR):c.711G>C (p.Gln237His)
|
rs397508785
|
|
NM_000492.4(CFTR):c.712G>C (p.Ala238Pro)
|
rs1413926814
|
|
NM_000492.4(CFTR):c.713C>T (p.Ala238Val)
|
rs397508786
|
|
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr)
|
rs397508792
|
|
NM_000492.4(CFTR):c.744-34A>T
|
rs897890349
|
|
NM_000492.4(CFTR):c.757G>A (p.Gly253Arg)
|
rs1343896905
|
|
NM_000492.4(CFTR):c.796A>G (p.Ile266Val)
|
|
|
NM_000492.4(CFTR):c.870-3T>G
|
rs397508810
|
|
NM_000492.4(CFTR):c.870-4A>G
|
rs755173693
|
|
NM_000492.4(CFTR):c.870-7_870-5del
|
rs759762840
|
|
NM_000492.4(CFTR):c.914T>G (p.Phe305Cys)
|
rs1562892143
|
|
NM_000492.4(CFTR):c.92G>A (p.Arg31His)
|
rs149353983
|
|
NM_000492.4(CFTR):c.947T>A (p.Phe316Tyr)
|
rs779201407
|
|
NM_000492.4(CFTR):c.[220C>T;3808G>A]
|
|
|
NM_000493.4(COL10A1):c.1055C>T (p.Pro352Leu)
|
|
|
NM_000493.4(COL10A1):c.1453dup (p.Leu485fs)
|
|
|
NM_000493.4(COL10A1):c.499C>T (p.Pro167Ser)
|
|
|
NM_000494.4(COL17A1):c.3542G>C (p.Gly1181Ala)
|
|
|
NM_000494.4(COL17A1):c.3670G>A (p.Gly1224Arg)
|
|
|
NM_000497.4(CYP11B1):c.1280G>A (p.Arg427His)
|
rs754432887
|
|
NM_000497.4(CYP11B1):c.1361G>C (p.Arg454Pro)
|
|
|
NM_000497.4(CYP11B1):c.1398+6C>G
|
|
|
NM_000497.4(CYP11B1):c.239+156C>T
|
|
|
NM_000497.4(CYP11B1):c.240-18_240-17delinsAA
|
rs1586561494
|
|
NM_000497.4(CYP11B1):c.954+3C>G
|
|
|
NM_000498.3(CYP11B2):c.422G>A (p.Arg141Gln)
|
|
|
NM_000500.9(CYP21A2):c.1132G>T (p.Asp378Tyr)
|
rs528524868
|
|
NM_000500.9(CYP21A2):c.1143G>C (p.Glu381Asp)
|
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_000500.9(CYP21A2):c.1205C>T (p.Pro402Leu)
|
|
|
NM_000500.9(CYP21A2):c.1213T>C (p.Phe405Leu)
|
|
|
NM_000500.9(CYP21A2):c.1385T>C (p.Leu462Pro)
|
|
|
NM_000500.9(CYP21A2):c.22C>A (p.Leu8Met)
|
|
|
NM_000500.9(CYP21A2):c.601A>G (p.Thr201Ala)
|
|
|
NM_000500.9(CYP21A2):c.931C>A (p.His311Asn)
|
|
|
NM_000500.9(CYP21A2):c.[710T>A;719T>A]
|
|
|
NM_000500.9(CYP21A2):c.[713T>A;719T>A]
|
|
|
NM_000501.4(ELN):c.1918+3G>A
|
|
|
NM_000503.6(EYA1):c.1211T>G (p.Phe404Cys)
|
|
|
NM_000505.4(F12):c.1697del (p.Pro566fs)
|
|
|
NM_000506.4(F2):c.*108C>T
|
|
|
NM_000506.5(F2):c.*65_*69dup
|
|
|
NM_000512.5(GALNS):c.1096C>T (p.Leu366Phe)
|
|
|
NM_000512.5(GALNS):c.169C>T (p.Pro57Ser)
|
|
|
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln)
|
rs746949976
|
|
NM_000512.5(GALNS):c.499T>G (p.Phe167Val)
|
rs148565559
|
|
NM_000512.5(GALNS):c.692C>T (p.Ala231Val)
|
|
|
NM_000512.5(GALNS):c.707A>G (p.His236Arg)
|
rs398123441
|
|
NM_000512.5(GALNS):c.806T>C (p.Leu269Pro)
|
|
|
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro)
|
rs2143001162
|
|
NM_000512.5(GALNS):c.865A>G (p.Asn289Asp)
|
rs1314520034
|
|
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser)
|
rs1465096387
|
|
NM_000512.5(GALNS):c.917T>C (p.Phe306Ser)
|
rs759590432
|
|
NM_000515.5(GH1):c.-5C>T
|
|
|
NM_000515.5(GH1):c.-5_-4delinsTG
|
|
|
NM_000515.5(GH1):c.615C>G (p.Ile205Met)
|
rs148474991
|
|
NM_000517.6(HBA2):c.-3_-2del
|
|
|
NM_000517.6(HBA2):c.301-13_301-12insGGCCCCC
|
rs778442461
|
|
NM_000517.6(HBA2):c.326C>A (p.Thr109Asn)
|
rs63750010
|
|
NM_000517.6(HBA2):c.349G>A (p.Glu117Lys)
|
rs33987053
|
|
NM_000517.6(HBA2):c.369C>A (p.His123Gln)
|
|
|
NM_000517.6(HBA2):c.43T>C (p.Trp15Arg)
|
|
|
NM_000517.6(HBA2):c.46G>A (p.Gly16Ser)
|
|
|
NM_000517.6(HBA2):c.77G>A (p.Gly26Asp)
|
|
|
NM_000517.6(HBA2):c.79G>A (p.Ala27Thr)
|
rs41467944
|
|
NM_000518.4(HBB):c.-134A>G
|
rs1847592568
|
|
NM_000518.4(HBB):c.-146G>T
|
|
|
NM_000518.4(HBB):c.-152C>A
|
|
|
NM_000518.4(HBB):c.-82C>A
|
rs34500389
|
|
NM_000518.4(HBB):c.-83G>A
|
|
|
NM_000518.4(HBB):c.-92C>T
|
rs397515291
|
|
NM_000518.4(HBB):c.137T>C (p.Phe46Ser)
|
rs33978338
|
|
NM_000518.4(HBB):c.232C>T (p.His78Tyr)
|
rs33991294
|
|
NM_000518.4(HBB):c.263C>A (p.Thr88Lys)
|
rs33993568
|
|
NM_000518.4(HBB):c.271G>A (p.Glu91Lys)
|
rs33913712
|
|
NM_000518.4(HBB):c.283G>A (p.Asp95Asn)
|
rs33959340
|
|
NM_000518.4(HBB):c.29C>G (p.Ser10Cys)
|
rs33918131
|
|
NM_000518.4(HBB):c.374C>T (p.Pro125Leu)
|
rs33983276
|
|
NM_000518.4(HBB):c.386C>T (p.Ala129Val)
|
rs33957286
|
|
NM_000518.4(HBB):c.67G>C (p.Glu23Gln)
|
rs33959855
|
|
NM_000518.5(HBB):c.*102C>T
|
rs1554917429
|
|
NM_000518.5(HBB):c.*112A>T
|
|
|
NM_000518.5(HBB):c.*116dup
|
rs281864532
|
|
NM_000518.5(HBB):c.*117C>T
|
rs2133585664
|
|
NM_000518.5(HBB):c.*33G>T
|
rs1364427740
|
|
NM_000518.5(HBB):c.*37C>G
|
|
|
NM_000518.5(HBB):c.*47C>G
|
rs1158183534
|
|
NM_000518.5(HBB):c.*47C>T
|
rs1158183534
|
|
NM_000518.5(HBB):c.*48T>C
|
rs759337708
|
|
NM_000518.5(HBB):c.*51G>A
|
|
|
NM_000518.5(HBB):c.*56A>G
|
rs537944366
|
|
NM_000518.5(HBB):c.*57C>G
|
|
|
NM_000518.5(HBB):c.*5G>C
|
|
|
NM_000518.5(HBB):c.-10A>G
|
rs747545656
|
|
NM_000518.5(HBB):c.-12C>T
|
|
|
NM_000518.5(HBB):c.-130T>C
|
|
|
NM_000518.5(HBB):c.-140C>G
|
rs34999973
|
|
NM_000518.5(HBB):c.-82C>T
|
rs34500389
|
|
NM_000518.5(HBB):c.-8C>G
|
rs1319747765
|
|
NM_000518.5(HBB):c.100G>A (p.Val34Met)
|
rs1141370
|
|
NM_000518.5(HBB):c.10C>A (p.Leu4Met)
|
rs34126315
|
|
NM_000518.5(HBB):c.116C>G (p.Thr39Ser)
|
|
|
NM_000518.5(HBB):c.164T>C (p.Val55Ala)
|
rs34037627
|
|
NM_000518.5(HBB):c.167T>C (p.Met56Thr)
|
rs35094013
|
|
NM_000518.5(HBB):c.169G>A (p.Gly57Ser)
|
rs33935983
|
|
NM_000518.5(HBB):c.16C>T (p.Pro6Ser)
|
rs33912272
|
|
NM_000518.5(HBB):c.176C>G (p.Pro59Arg)
|
rs33991472
|
|
NM_000518.5(HBB):c.186G>C (p.Lys62Asn)
|
rs34446260
|
|
NM_000518.5(HBB):c.241A>T (p.Asn81Tyr)
|
rs63750519
|
|
NM_000518.5(HBB):c.251G>A (p.Gly84Asp)
|
rs1803195
|
|
NM_000518.5(HBB):c.259G>T (p.Ala87Ser)
|
|
|
NM_000518.5(HBB):c.282T>G (p.Cys94Trp)
|
rs1847552343
|
|
NM_000518.5(HBB):c.300T>A (p.Asp100Glu)
|
rs34013622
|
|
NM_000518.5(HBB):c.315+5G>A
|
|
|
NM_000518.5(HBB):c.315+9A>G
|
rs1277597344
|
|
NM_000518.5(HBB):c.315G>A (p.Arg105=)
|
|
|
NM_000518.5(HBB):c.316-106C>A
|
|
|
NM_000518.5(HBB):c.316-141G>A
|
rs1011427406
|
|
NM_000518.5(HBB):c.316-171_316-170del
|
rs1564874493
|
|
NM_000518.5(HBB):c.316-192G>A
|
rs1564874512
|
|
NM_000518.5(HBB):c.316-194T>C
|
|
|
NM_000518.5(HBB):c.316-198G>A
|
rs547258651
|
|
NM_000518.5(HBB):c.316-20C>T
|
rs756657263
|
|
NM_000518.5(HBB):c.316-27T>G
|
rs1280140490
|
|
NM_000518.5(HBB):c.316-28G>C
|
rs771736852
|
|
NM_000518.5(HBB):c.316-42del
|
rs746631999
|
|
NM_000518.5(HBB):c.316-44C>G
|
|
|
NM_000518.5(HBB):c.316-46G>A
|
rs1554917642
|
|
NM_000518.5(HBB):c.316-60C>T
|
rs1847533961
|
|
NM_000518.5(HBB):c.316-7C>G
|
rs34483965
|
|
NM_000518.5(HBB):c.316-85A>G
|
rs1847534399
|
|
NM_000518.5(HBB):c.316-96G>A
|
rs193922561
|
|
NM_000518.5(HBB):c.316-99del
|
rs1257175417
|
|
NM_000518.5(HBB):c.31G>A (p.Ala11Thr)
|
rs63750717
|
|
NM_000518.5(HBB):c.323G>T (p.Gly108Val)
|
rs35519485
|
|
NM_000518.5(HBB):c.394C>G (p.Gln132Glu)
|
rs33910209
|
|
NM_000518.5(HBB):c.407C>T (p.Ala136Val)
|
|
|
NM_000518.5(HBB):c.420T>G (p.Asn140Lys)
|
|
|
NM_000518.5(HBB):c.4G>A (p.Val2Met)
|
rs33958358
|
|
NM_000518.5(HBB):c.56T>G (p.Val19Gly)
|
rs35382661
|
|
NM_000518.5(HBB):c.5T>C (p.Val2Ala)
|
rs33949930
|
|
NM_000518.5(HBB):c.8A>C (p.His3Pro)
|
rs33983205
|
|
NM_000518.5(HBB):c.92+13G>T
|
rs753444453
|
|
NM_000518.5(HBB):c.92+15_92+16insTGG
|
rs1847578475
|
|
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
|
rs1554918013
|
|
NM_000520.5(HEXA):c.-898A>T
|
rs2140346088
|
|
NM_000520.6(HEXA):c.1008G>T (p.Gln336His)
|
|
|
NM_000520.6(HEXA):c.1074-7_1074-3del
|
rs759219683
|
|
NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr)
|
rs2088636561
|
|
NM_000520.6(HEXA):c.1196A>T (p.Asn399Ile)
|
rs755973971
|
|
NM_000520.6(HEXA):c.1382G>T (p.Gly461Val)
|
|
|
NM_000520.6(HEXA):c.358A>G (p.Ile120Val)
|
rs1567300305
|
|
NM_000520.6(HEXA):c.460-13T>C
|
rs2140326429
|
|
NM_000520.6(HEXA):c.499T>G (p.Phe167Val)
|
rs2088724098
|
|
NM_000520.6(HEXA):c.571-20G>T
|
|
|
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.746G>A (p.Arg249Gln)
|
rs1297800753
|
|
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.907A>C (p.Thr303Pro)
|
rs759837903
|
|
NM_000520.6(HEXA):c.962G>A (p.Gly321Glu)
|
rs1316178162
|
|
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val)
|
rs757550590
|
|
NM_000521.4(HEXB):c.1378T>C (p.Trp460Arg)
|
rs2112180926
|
|
NM_000521.4(HEXB):c.1583G>T (p.Arg528Ile)
|
rs760366178
|
|
NM_000521.4(HEXB):c.1586T>G (p.Leu529Arg)
|
rs745454291
|
|
NM_000521.4(HEXB):c.1613+14del
|
rs754704434
|
|
NM_000521.4(HEXB):c.1613+4A>G
|
|
|
NM_000521.4(HEXB):c.1613+5_1613+10del
|
|
|
NM_000521.4(HEXB):c.176T>C (p.Leu59Pro)
|
rs774155487
|
|
NM_000521.4(HEXB):c.178C>A (p.Pro60Thr)
|
rs761575773
|
|
NM_000521.4(HEXB):c.299G>A (p.Arg100Gln)
|
rs1060499701
|
|
NM_000521.4(HEXB):c.988T>G (p.Tyr330Asp)
|
rs1749650679
|
|
NM_000525.4(KCNJ11):c.11G>A (p.Arg4His)
|
|
|
NM_000526.5(KRT14):c.907G>A (p.Glu303Lys)
|
rs1907424216
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
NM_000527.5(LDLR):c.*18C>T
|
|
|
NM_000527.5(LDLR):c.1037T>C (p.Leu346Pro)
|
|
|
NM_000527.5(LDLR):c.1186+11G>A
|
rs879254822
|
|
NM_000527.5(LDLR):c.1263C>A (p.Ser421Arg)
|
rs752942769
|
|
NM_000527.5(LDLR):c.130T>C (p.Trp44Arg)
|
|
|
NM_000527.5(LDLR):c.1358+10G>A
|
|
|
NM_000527.5(LDLR):c.1370A>G (p.Asp457Gly)
|
|
|
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser)
|
rs193922568
|
|
NM_000527.5(LDLR):c.139G>T (p.Asp47Tyr)
|
rs778284147
|
|
NM_000527.5(LDLR):c.1413_1414delinsGA (p.Asp472Asn)
|
rs2077416170
|
|
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn)
|
rs730882102
|
|
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn)
|
rs780316072
|
|
NM_000527.5(LDLR):c.1522A>T (p.Arg508Trp)
|
rs2077420485
|
|
NM_000527.5(LDLR):c.1575T>A (p.Asp525Glu)
|
rs763884010
|
|
NM_000527.5(LDLR):c.1586+12C>T
|
|
|
NM_000527.5(LDLR):c.1587-3C>G
|
|
|
NM_000527.5(LDLR):c.1654A>G (p.Ile552Val)
|
rs2077459948
|
|
NM_000527.5(LDLR):c.1658_1660del (p.Tyr553del)
|
rs1555806019
|
|
NM_000527.5(LDLR):c.1669A>C (p.Thr557Pro)
|
|
|
NM_000527.5(LDLR):c.1686G>T (p.Trp562Cys)
|
rs879254985
|
|
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp)
|
rs28942082
|
|
NM_000527.5(LDLR):c.1721G>C (p.Arg574Pro)
|
|
|
NM_000527.5(LDLR):c.1847A>G (p.Asp616Gly)
|
rs2147264778
|
|
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
|
|
|
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr)
|
rs879255064
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
NM_000527.5(LDLR):c.190+4_190+7del
|
rs2147210820
|
|
NM_000527.5(LDLR):c.1985G>A (p.Arg662Lys)
|
rs1568611349
|
|
NM_000527.5(LDLR):c.2229_2234dup (p.Arg744_Pro745dup)
|
rs1131692222
|
|
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
|
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
NM_000527.5(LDLR):c.2547+5G>A
|
rs879255226
|
|
NM_000527.5(LDLR):c.262A>T (p.Arg88Trp)
|
|
|
NM_000527.5(LDLR):c.314-16C>G
|
|
|
NM_000527.5(LDLR):c.672C>G (p.Asp224Glu)
|
rs1057519658
|
|
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg)
|
rs879254659
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000527.5(LDLR):c.779A>G (p.Asp260Gly)
|
rs2077300243
|
|
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg)
|
rs879254692
|
|
NM_000527.5(LDLR):c.871A>C (p.Thr291Pro)
|
|
|
NM_000527.5(LDLR):c.95T>C (p.Phe32Ser)
|
rs879254403
|
|
NM_000528.4(MAN2B1):c.1336C>T (p.His446Tyr)
|
|
|
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro)
|
rs1555706137
|
|
NM_000528.4(MAN2B1):c.286G>A (p.Gly96Ser)
|
|
|
NM_000528.4(MAN2B1):c.2887del (p.Glu963fs)
|
rs2145220124
|
|
NM_000528.4(MAN2B1):c.2977dup (p.Glu993fs)
|
|
|
NM_000531.6(OTC):c.116G>A (p.Gly39Asp)
|
rs1602014500
|
|
NM_000531.6(OTC):c.218A>G (p.Tyr73Cys)
|
|
|
NM_000531.6(OTC):c.791C>T (p.Thr264Ile)
|
rs67156896
|
|
NM_000532.5(PCCB):c.1126C>T (p.Arg376Cys)
|
rs200306164
|
|
NM_000532.5(PCCB):c.1219G>A (p.Gly407Ser)
|
|
|
NM_000532.5(PCCB):c.773A>G (p.His258Arg)
|
|
|
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)
|
rs752029455
|
|
NM_000535.7(PMS2):c.*3G>A
|
rs776493195
|
|
NM_000535.7(PMS2):c.-1C>T
|
rs369681753
|
|
NM_000535.7(PMS2):c.-3T>G
|
|
|
NM_000535.7(PMS2):c.1026A>C (p.Gln342His)
|
rs561993366
|
|
NM_000535.7(PMS2):c.1040A>G (p.Glu347Gly)
|
rs878854031
|
|
NM_000535.7(PMS2):c.1098T>G (p.Asp366Glu)
|
|
|
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile)
|
rs746889239
|
|
NM_000535.7(PMS2):c.1121AGC[1] (p.Gln375del)
|
rs1583334101
|
|
NM_000535.7(PMS2):c.1145-17delinsGGAG
|
rs1562637330
|
|
NM_000535.7(PMS2):c.1249A>C (p.Ile417Leu)
|
rs1060503132
|
|
NM_000535.7(PMS2):c.1259T>C (p.Leu420Pro)
|
rs747495075
|
|
NM_000535.7(PMS2):c.1270T>C (p.Phe424Leu)
|
rs1562635229
|
|
NM_000535.7(PMS2):c.1294A>G (p.Asn432Asp)
|
rs1783144549
|
|
NM_000535.7(PMS2):c.1306A>G (p.Ser436Gly)
|
rs1583321782
|
|
NM_000535.7(PMS2):c.1329A>T (p.Arg443Ser)
|
rs192720342
|
|
NM_000535.7(PMS2):c.1354G>A (p.Gly452Ser)
|
rs569947936
|
|
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser)
|
rs587778615
|
|
NM_000535.7(PMS2):c.142G>A (p.Asp48Asn)
|
rs755665894
|
|
NM_000535.7(PMS2):c.1439G>C (p.Gly480Ala)
|
rs373917897
|
|
NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys)
|
rs876660060
|
|
NM_000535.7(PMS2):c.1507T>G (p.Ser503Ala)
|
rs864622497
|
|
NM_000535.7(PMS2):c.1540C>T (p.His514Tyr)
|
rs878854036
|
|
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn)
|
rs63750686
|
|
NM_000535.7(PMS2):c.1631A>T (p.Asp544Val)
|
rs1562629531
|
|
NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys)
|
rs557906137
|
|
NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu)
|
rs764749700
|
|
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer)
|
rs1060503126
|
|
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys)
|
rs63750534
|
|
NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile)
|
rs762100304
|
|
NM_000535.7(PMS2):c.1841A>G (p.Lys614Arg)
|
rs771892867
|
|
NM_000535.7(PMS2):c.1874T>C (p.Leu625Ser)
|
rs63750835
|
|
NM_000535.7(PMS2):c.1942T>G (p.Phe648Val)
|
rs1782931972
|
|
NM_000535.7(PMS2):c.2003T>G (p.Ile668Arg)
|
rs1562624877
|
|
NM_000535.7(PMS2):c.2006+67del
|
rs1159879425
|
|
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu)
|
rs1554295980
|
|
NM_000535.7(PMS2):c.2017T>C (p.Phe673Leu)
|
rs1562616167
|
|
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu)
|
rs878854041
|
|
NM_000535.7(PMS2):c.2039G>C (p.Gly680Ala)
|
|
|
NM_000535.7(PMS2):c.2049C>G (p.Asn683Lys)
|
rs752950007
|
|
NM_000535.7(PMS2):c.2089A>C (p.Ile697Leu)
|
rs1554295859
|
|
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu)
|
rs587780048
|
|
NM_000535.7(PMS2):c.2112C>A (p.Asp704Glu)
|
rs764735061
|
|
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser)
|
rs587780049
|
|
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg)
|
rs587782559
|
|
NM_000535.7(PMS2):c.2165G>A (p.Arg722Lys)
|
|
|
NM_000535.7(PMS2):c.2172A>G (p.Ile724Met)
|
rs1562614497
|
|
NM_000535.7(PMS2):c.2175-65_2175-61del
|
rs1417472000
|
|
NM_000535.7(PMS2):c.2185C>G (p.Leu729Val)
|
rs1554294503
|
|
NM_000535.7(PMS2):c.2212G>C (p.Val738Leu)
|
rs758225108
|
|
NM_000535.7(PMS2):c.2219T>C (p.Ile740Thr)
|
rs1554294462
|
|
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn)
|
rs762206330
|
|
NM_000535.7(PMS2):c.2275+8A>G
|
rs878854046
|
|
NM_000535.7(PMS2):c.2276-4T>C
|
rs1562602173
|
|
NM_000535.7(PMS2):c.2281G>A (p.Val761Ile)
|
rs201914670
|
|
NM_000535.7(PMS2):c.2317A>G (p.Ser773Gly)
|
rs587781489
|
|
NM_000535.7(PMS2):c.2367G>A (p.Met789Ile)
|
rs766565506
|
|
NM_000535.7(PMS2):c.2378G>T (p.Ser793Ile)
|
|
|
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser)
|
rs773393960
|
|
NM_000535.7(PMS2):c.2418G>A (p.Met806Ile)
|
rs786203096
|
|
NM_000535.7(PMS2):c.2445+9A>G
|
rs1562600132
|
|
NM_000535.7(PMS2):c.2446-19C>T
|
rs1390101876
|
|
NM_000535.7(PMS2):c.2446-5C>G
|
rs864622279
|
|
NM_000535.7(PMS2):c.2452A>G (p.Ile818Val)
|
|
|
NM_000535.7(PMS2):c.2462C>G (p.Ala821Gly)
|
rs2128658992
|
|
NM_000535.7(PMS2):c.2475C>T (p.Ser825=)
|
rs776460258
|
|
NM_000535.7(PMS2):c.250+5G>C
|
rs1458809226
|
|
NM_000535.7(PMS2):c.2503G>T (p.Gly835Trp)
|
|
|
NM_000535.7(PMS2):c.2541G>T (p.Arg847Ser)
|
rs2128657332
|
|
NM_000535.7(PMS2):c.2543C>T (p.Pro848Leu)
|
rs786201850
|
|
NM_000535.7(PMS2):c.311T>C (p.Phe104Ser)
|
rs876660295
|
|
NM_000535.7(PMS2):c.32C>T (p.Pro11Leu)
|
rs1291217267
|
|
NM_000535.7(PMS2):c.426A>C (p.Lys142Asn)
|
rs1785218841
|
|
NM_000535.7(PMS2):c.524G>T (p.Arg175Met)
|
rs1562688735
|
|
NM_000535.7(PMS2):c.538-12dup
|
rs1455766004
|
|
NM_000535.7(PMS2):c.566A>C (p.His189Pro)
|
rs876660330
|
|
NM_000535.7(PMS2):c.593T>C (p.Ile198Thr)
|
rs2128801302
|
|
NM_000535.7(PMS2):c.652G>A (p.Gly218Ser)
|
rs878854055
|
|
NM_000535.7(PMS2):c.659G>T (p.Ser220Ile)
|
rs769967916
|
|
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu)
|
rs201811667
|
|
NM_000535.7(PMS2):c.697C>G (p.Gln233Glu)
|
rs587779343
|
|
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)
|
rs201395630
|
|
NM_000535.7(PMS2):c.730C>G (p.Gln244Glu)
|
rs1562671039
|
|
NM_000535.7(PMS2):c.774_776del (p.Cys259del)
|
|
|
NM_000535.7(PMS2):c.774_777delinsA (p.Ser258_Cys259delinsArg)
|
|
|
NM_000535.7(PMS2):c.774_778delinsTA (p.Cys259_Ser260delinsThr)
|
rs1784525754
|
|
NM_000535.7(PMS2):c.779_780inv (p.Ser260Trp)
|
|
|
NM_000535.7(PMS2):c.803+7A>G
|
rs1562669544
|
|
NM_000535.7(PMS2):c.824A>G (p.Gln275Arg)
|
rs546966892
|
|
NM_000535.7(PMS2):c.830C>T (p.Thr277Met)
|
rs1805322
|
|
NM_000535.7(PMS2):c.833A>G (p.His278Arg)
|
rs1562664434
|
|
NM_000535.7(PMS2):c.851C>T (p.Ser284Leu)
|
rs587782898
|
|
NM_000535.7(PMS2):c.869T>C (p.Phe290Ser)
|
rs1031512870
|
|
NM_000535.7(PMS2):c.917T>A (p.Val306Glu)
|
rs786201878
|
|
NM_000535.7(PMS2):c.929A>T (p.Tyr310Phe)
|
rs372172981
|
|
NM_000535.7(PMS2):c.935T>C (p.Met312Thr)
|
rs530021751
|
|
NM_000535.7(PMS2):c.989-8dup
|
rs1333503820
|
|
NM_000535.7(PMS2):c.[1556A>G;1559C>T1567T>A]
|
|
|
NM_000536.4(RAG2):c.1295C>T (p.Pro432Leu)
|
rs753677011
|
|
NM_000536.4(RAG2):c.353A>G (p.Lys118Arg)
|
rs1851094033
|
|
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser)
|
rs1159686210
|
|
NM_000536.4(RAG2):c.95G>A (p.Gly32Glu)
|
|
|
NM_000538.4(RFXAP):c.328G>T (p.Asp110Tyr)
|
rs2057955362
|
|
NM_000540.3(RYR1):c.11779-11G>A
|
|
|
NM_000540.3(RYR1):c.13153G>T (p.Asp4385Tyr)
|
rs1227202568
|
|
NM_000540.3(RYR1):c.13244_13264del (p.Ala4415_Asp4421del)
|
rs763413580
|
|
NM_000540.3(RYR1):c.13331_13351dup (p.Gly4444_Gly4450dup)
|
rs1358102336
|
|
NM_000540.3(RYR1):c.13408G>A (p.Gly4470Ser)
|
|
|
NM_000540.3(RYR1):c.14282C>T (p.Pro4761Leu)
|
rs373919284
|
|
NM_000540.3(RYR1):c.14809A>G (p.Ile4937Val)
|
rs2145917369
|
|
NM_000540.3(RYR1):c.2004C>A (p.Asp668Glu)
|
rs78835441
|
|
NM_000540.3(RYR1):c.3021C>G (p.Ser1007Arg)
|
|
|
NM_000540.3(RYR1):c.3268G>C (p.Glu1090Gln)
|
rs944826130
|
|
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp)
|
rs1568436081
|
|
NM_000540.3(RYR1):c.5688GGA[1] (p.Glu1898del)
|
rs772076294
|
|
NM_000540.3(RYR1):c.58G>A (p.Val20Ile)
|
|
|
NM_000540.3(RYR1):c.6952T>C (p.Tyr2318His)
|
|
|
NM_000540.3(RYR1):c.7817G>A (p.Cys2606Tyr)
|
rs1358912817
|
|
NM_000540.3(RYR1):c.9233+3A>G
|
rs1555787274
|
|
NM_000540.3(RYR1):c.9473-3C>T
|
|
|
NM_000541.5(SAG):c.916G>A (p.Glu306Lys)
|
|
|
NM_000543.5(SMPD1):c.107delinsCGCTGGCGCTGGC (p.Val36delinsAlaLeuAlaLeuAla)
|
rs1847861920
|
|
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)
|
|
|
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe)
|
rs281860666
|
|
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro)
|
rs794727705
|
|
NM_000543.5(SMPD1):c.1395T>G (p.Phe465Leu)
|
rs1848061944
|
|
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys)
|
rs267607074
|
|
NM_000543.5(SMPD1):c.1558A>C (p.Ile520Leu)
|
|
|
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)
|
rs1803161
|
|
NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala)
|
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000545.8(HNF1A):c.-148C>A
|
|
|
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)
|
rs371717826
|
|
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)
|
rs193922580
|
|
NM_000545.8(HNF1A):c.1502-9T>C
|
|
|
NM_000545.8(HNF1A):c.1544C>A (p.Thr515Lys)
|
rs745460046
|
|
NM_000545.8(HNF1A):c.1747_1766dup (p.Val590fs)
|
|
|
NM_000545.8(HNF1A):c.1859C>T (p.Thr620Ile)
|
rs137853241
|
|
NM_000545.8(HNF1A):c.238G>T (p.Asp80Tyr)
|
rs76845985
|
|
NM_000545.8(HNF1A):c.680_683delinsTCCTCCACTT (p.Glu227_Glu228delinsValLeuHisLeu)
|
rs1876937295
|
|
NM_000545.8(HNF1A):c.77T>G (p.Leu26Arg)
|
|
|
NM_000545.8(HNF1A):c.787C>G (p.Arg263Gly)
|
rs771108132
|
|
NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser)
|
rs1555212006
|
|
NM_000546.6(TP53):c.*6_*9dup
|
rs1199379236
|
|
NM_000546.6(TP53):c.-3G>A
|
rs2073524866
|
|
NM_000546.6(TP53):c.1100+8A>G
|
rs878854062
|
|
NM_000546.6(TP53):c.118A>G (p.Met40Val)
|
rs1597375159
|
|
NM_000546.6(TP53):c.11C>T (p.Pro4Leu)
|
rs878854064
|
|
NM_000546.6(TP53):c.145G>C (p.Asp49His)
|
rs587780728
|
|
NM_000546.6(TP53):c.185_232del (p.Glu62_Pro77del)
|
rs1567556432
|
|
NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys)
|
rs730882014
|
|
NM_000546.6(TP53):c.263C>G (p.Ala88Gly)
|
rs1555526631
|
|
NM_000546.6(TP53):c.344A>G (p.His115Arg)
|
rs730881996
|
|
NM_000546.6(TP53):c.359A>T (p.Lys120Met)
|
rs2073450819
|
|
NM_000546.6(TP53):c.375+5_375+11del
|
rs730882021
|
|
NM_000546.6(TP53):c.388C>T (p.Leu130Phe)
|
rs863224683
|
|
NM_000546.6(TP53):c.419_430del (p.Thr140_Gln144delinsLys)
|
rs2073392778
|
|
NM_000546.6(TP53):c.509C>G (p.Thr170Arg)
|
rs779000871
|
|
NM_000546.6(TP53):c.559+8G>A
|
rs775915220
|
|
NM_000546.6(TP53):c.643A>G (p.Ser215Gly)
|
rs886039484
|
|
NM_000546.6(TP53):c.672+9T>C
|
rs1057521030
|
|
NM_000546.6(TP53):c.7G>C (p.Glu3Gln)
|
rs2073524362
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
NM_000546.6(TP53):c.848G>C (p.Arg283Pro)
|
rs371409680
|
|
NM_000546.6(TP53):c.886C>T (p.His296Tyr)
|
rs672601296
|
|
NM_000546.6(TP53):c.917G>A (p.Arg306Gln)
|
rs1048095040
|
|
NM_000546.6(TP53):c.919+5G>T
|
rs766127339
|
|
NM_000546.6(TP53):c.973G>A (p.Gly325Arg)
|
rs863224500
|
|
NM_000546.6(TP53):c.986C>T (p.Thr329Ile)
|
rs969930693
|
|
NM_000546.6(TP53):c.997C>T (p.Arg333Cys)
|
rs769934890
|
|
NM_000548.5(TSC2):c.1202A>C (p.His401Pro)
|
rs2086691569
|
|
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile)
|
rs746677177
|
|
NM_000548.5(TSC2):c.2470C>T (p.Pro824Ser)
|
rs1596356675
|
|
NM_000548.5(TSC2):c.3884-7C>T
|
rs1277989059
|
|
NM_000548.5(TSC2):c.4362T>A (p.Ser1454Arg)
|
rs1320400029
|
|
NM_000548.5(TSC2):c.4663-5C>A
|
|
|
NM_000550.3(TYRP1):c.810C>A (p.Ser270Arg)
|
|
|
NM_000551.4(VHL):c.154G>T (p.Glu52Ter)
|
rs373068386
|
|
NM_000551.4(VHL):c.22T>G (p.Trp8Gly)
|
rs1352171735
|
|
NM_000551.4(VHL):c.268A>T (p.Asn90Tyr)
|
rs1559426031
|
|
NM_000551.4(VHL):c.3G>T (p.Met1Ile)
|
rs578091032
|
|
NM_000551.4(VHL):c.449A>G (p.Asn150Ser)
|
rs760184234
|
|
NM_000551.4(VHL):c.454A>C (p.Thr152Pro)
|
rs1696267007
|
|
NM_000551.4(VHL):c.487C>T (p.Leu163Phe)
|
rs1553620318
|
|
NM_000551.4(VHL):c.490C>A (p.Gln164Lys)
|
rs5030819
|
|
NM_000551.4(VHL):c.539T>G (p.Ile180Ser)
|
rs1559429750
|
|
NM_000552.5(VWF):c.1606C>T (p.Leu536Phe)
|
|
|
NM_000552.5(VWF):c.202C>T (p.Arg68Cys)
|
|
|
NM_000552.5(VWF):c.2138G>A (p.Gly713Asp)
|
|
|
NM_000552.5(VWF):c.2839A>G (p.Met947Val)
|
|
|
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del)
|
rs368366214
|
|
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr)
|
rs1591865026
|
|
NM_000552.5(VWF):c.3674+8A>G
|
|
|
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser)
|
rs61749368
|
|
NM_000552.5(VWF):c.3749C>G (p.Ala1250Gly)
|
|
|
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)
|
rs61749370
|
|
NM_000552.5(VWF):c.4238C>A (p.Pro1413Gln)
|
rs61750079
|
|
NM_000552.5(VWF):c.4241T>G (p.Val1414Gly)
|
rs1565831973
|
|
NM_000552.5(VWF):c.4257T>G (p.His1419Gln)
|
|
|
NM_000552.5(VWF):c.4324A>G (p.Ser1442Gly)
|
|
|
NM_000552.5(VWF):c.4353C>A (p.Asp1451Glu)
|
|
|
NM_000552.5(VWF):c.4439C>T (p.Pro1480Leu)
|
|
|
NM_000552.5(VWF):c.4642G>A (p.Val1548Met)
|
|
|
NM_000552.5(VWF):c.4912G>A (p.Glu1638Lys)
|
rs61750588
|
|
NM_000552.5(VWF):c.5170+5G>A
|
rs1591860863
|
|
NM_000552.5(VWF):c.545C>T (p.Ser182Leu)
|
|
|
NM_000552.5(VWF):c.5797C>T (p.Pro1933Ser)
|
|
|
NM_000552.5(VWF):c.652C>A (p.Gln218Lys)
|
|
|
NM_000552.5(VWF):c.6798+11G>A
|
|
|
NM_000552.5(VWF):c.7551C>T (p.Val2517=)
|
|
|
NM_000552.5(VWF):c.824G>C (p.Cys275Ser)
|
rs2136474280
|
|
NM_000552.5(VWF):c.8366C>G (p.Thr2789Ser)
|
rs371036946
|
|
NM_000553.6(WRN):c.3589A>C (p.Asn1197His)
|
rs1480573176
|
|
NM_000553.6(WRN):c.3946A>G (p.Ile1316Val)
|
rs750389299
|
|
NM_000557.5(GDF5):c.1448A>G (p.Asn483Ser)
|
rs371230143
|
|
NM_000558.3(HBA1):c.310C>T (p.His104Tyr)
|
rs28928884
|
|
NM_000558.5(HBA1):c.-3_-2del
|
|
|
NM_000558.5(HBA1):c.142G>C (p.Asp48His)
|
|
|
NM_000558.5(HBA1):c.98T>A (p.Met33Lys)
|
rs281864566
|
|
NM_000593.6(TAP1):c.2239C>T (p.Pro747Ser)
|
|
|
NM_000612.6(IGF2):c.100G>A (p.Gly34Ser)
|
rs1858937359
|
|
NM_000612.6(IGF2):c.232G>A (p.Ala78Thr)
|
|
|
NM_000631.5(NCF4):c.729C>A (p.Tyr243Ter)
|
|
|
NM_000631.5(NCF4):c.758+99_758+101delinsC
|
|
|
NM_000631.5(NCF4):c.759-40C>T
|
|
|
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)
|
rs1131691438
|
|
NM_000642.3(AGL):c.3195T>A (p.Asp1065Glu)
|
rs569268763
|
|
NM_000642.3(AGL):c.4250T>C (p.Leu1417Ser)
|
|
|
NM_000642.3(AGL):c.4514del (p.Asn1505fs)
|
rs2100901643
|
|
NM_000682.7(ADRA2B):c.636dup (p.Pro213fs)
|
rs756613487
|
|
NM_000701.8(ATP1A1):c.12+3G>T
|
|
|
NM_000702.4(ATP1A2):c.1118C>G (p.Ser373Trp)
|
|
|
NM_000702.4(ATP1A2):c.1769A>T (p.Asp590Val)
|
rs1570990507
|
|
NM_000702.4(ATP1A2):c.319A>G (p.Ile107Val)
|
rs2101985456
|
|
NM_000702.4(ATP1A2):c.671C>A (p.Thr224Asn)
|
|
|
NM_000702.4(ATP1A2):c.695A>G (p.Glu232Gly)
|
|
|
NM_000709.4(BCKDHA):c.335T>C (p.Leu112Pro)
|
|
|
NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)
|
|
|
NM_000709.4(BCKDHA):c.892G>A (p.Val298Met)
|
rs1253348004
|
|
NM_000718.4(CACNA1B):c.1222GAG[1] (p.Glu409del)
|
|
|
NM_000718.4(CACNA1B):c.2651A>T (p.Glu884Val)
|
rs2133438747
|
|
NM_000718.4(CACNA1B):c.6745G>A (p.Ala2249Thr)
|
|
|
NM_000719.7(CACNA1C):c.248G>A (p.Arg83Gln)
|
rs774931483
|
|
NM_000719.7(CACNA1C):c.3913-18A>G
|
|
|
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg)
|
rs778011390
|
|
NM_000719.7(CACNA1C):c.5574-13C>A
|
rs1265215318
|
|
NM_000719.7(CACNA1C):c.5870C>A (p.Ala1957Asp)
|
rs1323011590
|
|
NM_000719.7(CACNA1C):c.6123G>C (p.Leu2041Phe)
|
rs998497258
|
|
NM_000732.6(CD3D):c.55+6G>C
|
|
|
NM_000733.4(CD3E):c.281G>C (p.Gly94Ala)
|
rs1565511330
|
|
NM_000742.4(CHRNA2):c.1350G>T (p.Lys450Asn)
|
|
|
NM_000742.4(CHRNA2):c.177G>C (p.Glu59Asp)
|
|
|
NM_000742.4(CHRNA2):c.529G>C (p.Ala177Pro)
|
rs796052298
|
|
NM_000744.7(CHRNA4):c.1220C>T (p.Ser407Phe)
|
rs761335733
|
|
NM_000744.7(CHRNA4):c.1759-17G>C
|
|
|
NM_000784.4(CYP27A1):c.53G>T (p.Arg18Leu)
|
rs2106479070
|
|
NM_000784.4(CYP27A1):c.63C>G (p.Cys21Trp)
|
rs781222632
|
|
NM_000784.4(CYP27A1):c.68A>G (p.His23Arg)
|
rs1943398664
|
|
NM_000784.4(CYP27A1):c.74C>G (p.Ala25Gly)
|
rs2106479103
|
|
NM_000797.4(DRD4):c.406GCCGTG[1] (p.136AV[1])
|
|
|
NM_000808.4(GABRA3):c.512T>C (p.Leu171Pro)
|
|
|
NM_000814.6(GABRB3):c.241-4C>G
|
|
|
NM_000823.4(GHRHR):c.989C>T (p.Ser330Leu)
|
|
|
NM_000824.5(GLRB):c.527G>C (p.Arg176Thr)
|
|
|
NM_000824.5(GLRB):c.765C>G (p.Cys255Trp)
|
|
|
NM_000827.4(GRIA1):c.1215G>C (p.Gln405His)
|
|
|
NM_000829.4(GRIA4):c.2617G>A (p.Val873Ile)
|
rs1158277612
|
|
NM_000829.4(GRIA4):c.280A>G (p.Ile94Val)
|
|
|
NM_000834.5(GRIN2B):c.1694T>G (p.Met565Arg)
|
|
|
NM_000834.5(GRIN2B):c.2341C>A (p.Leu781Met)
|
rs1064796752
|
|
NM_000834.5(GRIN2B):c.3322G>A (p.Ala1108Thr)
|
|
|
NM_000834.5(GRIN2B):c.3952G>A (p.Ala1318Thr)
|
|
|
NM_000836.4(GRIN2D):c.156C>A (p.Asn52Lys)
|
|
|
NM_000836.4(GRIN2D):c.2236A>G (p.Thr746Ala)
|
|
|
NM_000836.4(GRIN2D):c.223G>A (p.Ala75Thr)
|
rs2147434423
|
|
NM_000836.4(GRIN2D):c.2392C>G (p.Arg798Gly)
|
|
|
NM_000836.4(GRIN2D):c.2711C>G (p.Pro904Arg)
|
|
|
NM_000836.4(GRIN2D):c.2761C>T (p.Pro921Ser)
|
|
|
NM_000836.4(GRIN2D):c.3756G>C (p.Arg1252Ser)
|
|
|
NM_000875.5(IGF1R):c.1799A>C (p.Glu600Ala)
|
|
|
NM_000875.5(IGF1R):c.836G>A (p.Arg279His)
|
|
|
NM_000891.3(KCNJ2):c.8G>C (p.Ser3Thr)
|
|
|
NM_000899.5(KITLG):c.151_153del (p.Tyr51del)
|
|
|
NM_000901.5(NR3C2):c.2153C>T (p.Ser718Leu)
|
|
|
NM_000921.5(PDE3A):c.1801C>T (p.Pro601Ser)
|
|
|
NM_000921.5(PDE3A):c.1955A>C (p.Lys652Thr)
|
|
|
NM_000921.5(PDE3A):c.905G>A (p.Gly302Asp)
|
|
|
NM_000925.4(PDHB):c.3G>C (p.Met1Ile)
|
|
|
NM_000937.5(POLR2A):c.680G>A (p.Arg227His)
|
|
|
NM_000942.5(PPIB):c.528+5G>A
|
|
|
NM_000944.5(PPP3CA):c.1491C>A (p.Asn497Lys)
|
|
|
NM_000944.5(PPP3CA):c.836G>A (p.Arg279Gln)
|
rs2110240857
|
|
NM_000988.5(RPL27):c.145_147delinsCAG (p.Tyr49Gln)
|
|
|
NM_001001344.3(ATP2B3):c.2158G>C (p.Gly720Arg)
|
rs782081961
|
|
NM_001001548.3(CD36):c.1416_*1del (p.Lys472fs)
|
rs771061715
|
|
NM_001001548.3(CD36):c.424G>A (p.Val142Met)
|
|
|
NM_001002294.3(FMO3):c.-6-1G>C
|
|
|
NM_001002294.3(FMO3):c.919A>C (p.Thr307Pro)
|
|
|
NM_001002295.2(GATA3):c.89G>A (p.Gly30Asp)
|
rs1588374874
|
|
NM_001002755.4(NFU1):c.721-1G>A
|
|
|
NM_001003694.2(BRPF1):c.2107T>G (p.Phe703Val)
|
rs1337408318
|
|
NM_001003694.2(BRPF1):c.316C>T (p.Arg106Cys)
|
|
|
NM_001003722.2(GLE1):c.1881+5G>A
|
|
|
NM_001003722.2(GLE1):c.2006T>A (p.Ile669Lys)
|
|
|
NM_001003800.2(BICD2):c.-2C>T
|
|
|
NM_001003800.2(BICD2):c.1617C>G (p.His539Gln)
|
|
|
NM_001003841.3(SLC6A19):c.1213G>A (p.Glu405Lys)
|
|
|
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro)
|
rs770443705
|
|
NM_001005242.3(PKP2):c.1081G>A (p.Glu361Lys)
|
|
|
NM_001005242.3(PKP2):c.1114G>A (p.Ala372Thr)
|
rs200586695
|
|
NM_001005242.3(PKP2):c.1379-1966del
|
rs1555144717
|
|
NM_001005242.3(PKP2):c.1379-1985A>G
|
rs1193122924
|
|
NM_001005242.3(PKP2):c.1928T>G (p.Leu643Arg)
|
rs794729113
|
|
NM_001005242.3(PKP2):c.2013A>G (p.Pro671=)
|
rs1956373944
|
|
NM_001005242.3(PKP2):c.2168-8T>C
|
rs1565572439
|
|
NM_001005242.3(PKP2):c.2182C>T (p.Pro728Ser)
|
|
|
NM_001005242.3(PKP2):c.2183C>T (p.Pro728Leu)
|
|
|
NM_001005242.3(PKP2):c.337-9C>A
|
rs781357829
|
|
NM_001005273.3(CHD3):c.121C>A (p.Leu41Met)
|
|
|
NM_001005273.3(CHD3):c.1588G>A (p.Ala530Thr)
|
|
|
NM_001005273.3(CHD3):c.3895A>T (p.Ile1299Phe)
|
|
|
NM_001005273.3(CHD3):c.5684G>A (p.Arg1895His)
|
|
|
NM_001005361.3(DNM2):c.586C>G (p.Gln196Glu)
|
|
|
NM_001005361.3(DNM2):c.782C>G (p.Ser261Cys)
|
rs2071430985
|
|
NM_001005741.3(GBA1):c.-68-82A>G
|
|
|
NM_001007228.2(SPOP):c.565G>T (p.Glu189Ter)
|
rs2143193766
|
|
NM_001008216.2(GALE):c.118C>T (p.Arg40Cys)
|
|
|
NM_001008216.2(GALE):c.632A>G (p.Tyr211Cys)
|
|
|
NM_001008216.2(GALE):c.796A>C (p.Ile266Leu)
|
|
|
NM_001008216.2(GALE):c.820G>C (p.Gly274Arg)
|
|
|
NM_001008537.3(NEXMIF):c.1060G>A (p.Ala354Thr)
|
|
|
NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro)
|
rs891017786
|
|
NM_001008537.3(NEXMIF):c.2018G>T (p.Gly673Val)
|
|
|
NM_001008537.3(NEXMIF):c.2837A>G (p.Asn946Ser)
|
|
|
NM_001009944.3(PKD1):c.10601C>T (p.Ala3534Val)
|
|
|
NM_001009944.3(PKD1):c.2233G>A (p.Ala745Thr)
|
|
|
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys)
|
rs2092684130
|
|
NM_001009944.3(PKD1):c.3727T>G (p.Trp1243Gly)
|
rs2151800134
|
|
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg)
|
rs1057518976
|
|
NM_001009944.3(PKD1):c.4252A>T (p.Thr1418Ser)
|
|
|
NM_001009944.3(PKD1):c.4979C>G (p.Thr1660Ser)
|
|
|
NM_001009944.3(PKD1):c.5036G>A (p.Ser1679Asn)
|
rs756419129
|
|
NM_001009944.3(PKD1):c.6017G>C (p.Trp2006Ser)
|
|
|
NM_001009944.3(PKD1):c.6361C>T (p.Arg2121Cys)
|
|
|
NM_001009944.3(PKD1):c.641G>C (p.Cys214Ser)
|
|
|
NM_001009944.3(PKD1):c.6499A>G (p.Asn2167Asp)
|
rs2151787670
|
|
NM_001009944.3(PKD1):c.6865G>A (p.Gly2289Ser)
|
|
|
NM_001009944.3(PKD1):c.8086C>T (p.Leu2696Phe)
|
|
|
NM_001009944.3(PKD1):c.8162-13C>G
|
|
|
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met)
|
rs775497330
|
|
NM_001009999.3(KDM1A):c.2314G>A (p.Val772Met)
|
rs2124555975
|
|
NM_001009999.3(KDM1A):c.833G>A (p.Arg278His)
|
|
|
NM_001009999.3(KDM1A):c.954_955del (p.Ser319fs)
|
|
|
NM_001010867.4(IBA57):c.-10C>G
|
|
|
NM_001010867.4(IBA57):c.560G>A (p.Arg187His)
|
|
|
NM_001010898.4(SLC6A17):c.2139T>A (p.Tyr713Ter)
|
|
|
NM_001012759.3(CTU2):c.1399C>T (p.Arg467Cys)
|
rs139862860
|
|
NM_001017980.4(VMA21):c.-486C>T
|
|
|
NM_001018005.2(TPM1):c.253G>T (p.Val85Leu)
|
rs730881156
|
|
NM_001018005.2(TPM1):c.25C>T (p.Gln9Ter)
|
|
|
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln)
|
rs727504290
|
|
NM_001018005.2(TPM1):c.625G>T (p.Ala209Ser)
|
rs730881159
|
|
NM_001020658.2(PUM1):c.535A>G (p.Thr179Ala)
|
|
|
NM_001022.4(RPS19):c.172+3G>A
|
|
|
NM_001022.4(RPS19):c.20_22delinsCTCCAGCATCCAGTT (p.Lys7_Asp8delinsThrProAlaSerSerTyr)
|
|
|
NM_001024630.4(RUNX2):c.423+3A>G
|
|
|
NM_001025.5(RPS23):c.58C>G (p.Gln20Glu)
|
|
|
NM_001025295.3(IFITM5):c.94C>T (p.Pro32Ser)
|
|
|
NM_001025356.3(ANO6):c.1880+17A>G
|
|
|
NM_001025356.3(ANO6):c.2107G>T (p.Ala703Ser)
|
|
|
NM_001025356.3(ANO6):c.239G>A (p.Arg80Lys)
|
|
|
NM_001025356.3(ANO6):c.2418C>T (p.Cys806=)
|
|
|
NM_001025356.3(ANO6):c.586A>G (p.Ile196Val)
|
|
|
NM_001025603.2(RFX5):c.1146del (p.Asn382fs)
|
rs2102060624
|
|
NM_001025603.2(RFX5):c.1177G>A (p.Gly393Arg)
|
rs2102060534
|
|
NM_001025603.2(RFX5):c.1396C>T (p.Arg466Trp)
|
rs1557830458
|
|
NM_001025603.2(RFX5):c.1771G>A (p.Gly591Ser)
|
rs1650509739
|
|
NM_001032221.6(STXBP1):c.605C>T (p.Ala202Val)
|
rs1841236507
|
|
NM_001032283.3(TMPO):c.190G>A (p.Asp64Asn)
|
rs1462361337
|
|
NM_001032283.3(TMPO):c.19G>C (p.Asp7His)
|
|
|
NM_001032283.3(TMPO):c.279+19G>A
|
rs1233664962
|
|
NM_001032283.3(TMPO):c.565+1242A>G
|
|
|
NM_001032283.3(TMPO):c.565+1548A>G
|
rs779658294
|
|
NM_001032283.3(TMPO):c.565+1777G>C
|
|
|
NM_001032283.3(TMPO):c.565+1819A>G
|
rs1479099731
|
|
NM_001032283.3(TMPO):c.565+1983del
|
|
|
NM_001032283.3(TMPO):c.565+2138T>G
|
|
|
NM_001032382.2(PQBP1):c.475C>T (p.Arg159Trp)
|
rs200715521
|
|
NM_001032382.2(PQBP1):c.641+13C>T
|
|
|
NM_001032386.2(SUOX):c.1040T>C (p.Leu347Pro)
|
rs1890659461
|
|
NM_001032386.2(SUOX):c.352C>T (p.His118Tyr)
|
|
|
NM_001033855.3(DCLRE1C):c.1696_1699dup (p.Ser567fs)
|
|
|
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs)
|
rs760288938
|
|
NM_001033855.3(DCLRE1C):c.2050_2053del (p.Lys684fs)
|
|
|
NM_001033855.3(DCLRE1C):c.328C>G (p.Leu110Val)
|
|
|
NM_001034116.2(EIF2B4):c.1346C>T (p.Thr449Ile)
|
rs2148368349
|
|
NM_001034116.2(EIF2B4):c.1567C>T (p.Gln523Ter)
|
|
|
NM_001034853.2(RPGR):c.1286C>T (p.Pro429Leu)
|
rs2067408372
|
|
NM_001034853.2(RPGR):c.2180T>A (p.Met727Lys)
|
|
|
NM_001034853.2(RPGR):c.878G>T (p.Arg293Met)
|
|
|
NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser)
|
rs201749277
|
|
NM_001035.3(RYR2):c.10703del (p.Val3568fs)
|
rs1690189277
|
|
NM_001035.3(RYR2):c.12080C>T (p.Thr4027Met)
|
|
|
NM_001035.3(RYR2):c.12463T>A (p.Ser4155Thr)
|
rs1060500135
|
|
NM_001035.3(RYR2):c.12791T>G (p.Leu4264Arg)
|
rs2149355228
|
|
NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp)
|
rs371680410
|
|
NM_001035.3(RYR2):c.13957-10A>C
|
|
|
NM_001035.3(RYR2):c.14090+3_14090+6dup
|
|
|
NM_001035.3(RYR2):c.14590+7A>G
|
rs1553339087
|
|
NM_001035.3(RYR2):c.1468C>T (p.Gln490Ter)
|
rs2150218274
|
|
NM_001035.3(RYR2):c.14757-6del
|
rs1663791400
|
|
NM_001035.3(RYR2):c.14757-8dup
|
rs1663790050
|
|
NM_001035.3(RYR2):c.1803del (p.Asp602fs)
|
rs2150413242
|
|
NM_001035.3(RYR2):c.1997G>A (p.Gly666Asp)
|
rs1428072554
|
|
NM_001035.3(RYR2):c.2119C>T (p.Pro707Ser)
|
|
|
NM_001035.3(RYR2):c.2218A>T (p.Thr740Ser)
|
rs779813798
|
|
NM_001035.3(RYR2):c.2350A>G (p.Ile784Val)
|
rs794728729
|
|
NM_001035.3(RYR2):c.2433C>G (p.Phe811Leu)
|
|
|
NM_001035.3(RYR2):c.2613+8G>A
|
rs776678807
|
|
NM_001035.3(RYR2):c.274-7T>C
|
rs2149691778
|
|
NM_001035.3(RYR2):c.2804T>C (p.Met935Thr)
|
rs1665922680
|
|
NM_001035.3(RYR2):c.2825C>T (p.Thr942Ile)
|
|
|
NM_001035.3(RYR2):c.2877C>A (p.Asp959Glu)
|
rs1042196921
|
|
NM_001035.3(RYR2):c.2983A>G (p.Met995Val)
|
|
|
NM_001035.3(RYR2):c.3067-1G>A
|
|
|
NM_001035.3(RYR2):c.3503T>C (p.Met1168Thr)
|
rs778702831
|
|
NM_001035.3(RYR2):c.3596A>G (p.Asp1199Gly)
|
rs149760466
|
|
NM_001035.3(RYR2):c.463+7A>C
|
|
|
NM_001035.3(RYR2):c.464-10A>G
|
rs1257588740
|
|
NM_001035.3(RYR2):c.4784T>C (p.Leu1595Pro)
|
|
|
NM_001035.3(RYR2):c.5364G>C (p.Lys1788Asn)
|
|
|
NM_001035.3(RYR2):c.5384T>G (p.Leu1795Arg)
|
|
|
NM_001035.3(RYR2):c.596G>A (p.Gly199Asp)
|
|
|
NM_001035.3(RYR2):c.6022+14G>A
|
rs1370132495
|
|
NM_001035.3(RYR2):c.6134A>G (p.Glu2045Gly)
|
rs878854160
|
|
NM_001035.3(RYR2):c.6167-7T>C
|
rs1679840771
|
|
NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp)
|
rs753164125
|
|
NM_001035.3(RYR2):c.640G>A (p.Val214Met)
|
rs1036926941
|
|
NM_001035.3(RYR2):c.6555+8C>G
|
rs1759122
|
|
NM_001035.3(RYR2):c.6793-4G>T
|
rs568936247
|
|
NM_001035.3(RYR2):c.6838C>G (p.Leu2280Val)
|
rs1681098060
|
|
NM_001035.3(RYR2):c.6983C>T (p.Pro2328Leu)
|
rs727503401
|
|
NM_001035.3(RYR2):c.749G>T (p.Gly250Val)
|
rs376925177
|
|
NM_001035.3(RYR2):c.7546C>T (p.Leu2516Phe)
|
rs775400701
|
|
NM_001035.3(RYR2):c.7860T>A (p.Tyr2620Ter)
|
rs1415898681
|
|
NM_001035.3(RYR2):c.7903GAA[2] (p.Glu2637del)
|
rs1217786961
|
|
NM_001035.3(RYR2):c.9129-2A>G
|
rs1558245390
|
|
NM_001035.3(RYR2):c.9344A>G (p.His3115Arg)
|
|
|
NM_001035.3(RYR2):c.9361del (p.Asp3120_Leu3121insTer)
|
rs1687868371
|
|
NM_001035.3(RYR2):c.9559A>T (p.Lys3187Ter)
|
rs939109036
|
|
NM_001037.5(SCN1B):c.1A>C (p.Met1Leu)
|
rs1375857363
|
|
NM_001037.5(SCN1B):c.448+135del
|
rs761070541
|
|
NM_001037.5(SCN1B):c.448+189C>T
|
rs766373298
|
|
NM_001037.5(SCN1B):c.448+337G>T
|
rs369032304
|
|
NM_001037333.3(CYFIP2):c.1369A>G (p.Ile457Val)
|
|
|
NM_001037333.3(CYFIP2):c.1477G>A (p.Glu493Lys)
|
|
|
NM_001037333.3(CYFIP2):c.2909-16C>T
|
|
|
NM_001037333.3(CYFIP2):c.666+18G>A
|
|
|
NM_001039141.3(TRIOBP):c.3737C>T (p.Pro1246Leu)
|
|
|
NM_001039141.3(TRIOBP):c.5890C>G (p.Arg1964Gly)
|
rs565618931
|
|
NM_001039591.3(USP9X):c.2636+15A>G
|
rs2147118360
|
|
NM_001039591.3(USP9X):c.6631G>A (p.Asp2211Asn)
|
|
|
NM_001039876.3(SYNE4):c.1173del (p.Tyr392fs)
|
rs1326133563
|
|
NM_001039876.3(SYNE4):c.973-2A>T
|
|
|
NM_001039958.2(MESP2):c.1A>G (p.Met1Val)
|
|
|
NM_001039958.2(MESP2):c.229G>A (p.Gly77Arg)
|
|
|
NM_001039958.2(MESP2):c.401_411dup (p.Val138fs)
|
rs1218757887
|
|
NM_001039958.2(MESP2):c.832_838delinsACCCCTTG (p.Cys278fs)
|
|
|
NM_001039958.2(MESP2):c.837del (p.Trp280fs)
|
|
|
NM_001040142.2(SCN2A):c.1156T>C (p.Trp386Arg)
|
|
|
NM_001040142.2(SCN2A):c.1165C>A (p.Leu389Ile)
|
|
|
NM_001040142.2(SCN2A):c.2764C>T (p.Arg922Cys)
|
rs1008211605
|
|
NM_001040142.2(SCN2A):c.3630C>G (p.Phe1210Leu)
|
rs371422797
|
|
NM_001040142.2(SCN2A):c.4736T>C (p.Val1579Ala)
|
rs1384116109
|
|
NM_001040716.2(PC):c.1487_1492del (p.Arg496_Ala497del)
|
|
|
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr)
|
rs796052029
|
|
NM_001040716.2(PC):c.736G>A (p.Glu246Lys)
|
|
|
NM_001040716.2(PC):c.796T>G (p.Ser266Ala)
|
rs113994142
|
|
NM_001042424.3(NSD2):c.1545A>C (p.Glu515Asp)
|
|
|
NM_001042424.3(NSD2):c.331C>T (p.Pro111Ser)
|
rs541714722
|
|
NM_001042424.3(NSD2):c.597+17G>A
|
|
|
NM_001042432.2(CLN3):c.443_445del (p.Val148del)
|
rs752130042
|
|
NM_001042432.2(CLN3):c.790+3A>C
|
rs386833738
|
|
NM_001042432.2(CLN3):c.917T>A (p.Leu306His)
|
|
|
NM_001042492.3(NF1):c.*11CTTT[1]
|
|
|
NM_001042492.3(NF1):c.1322A>G (p.Asn441Ser)
|
rs370020114
|
|
NM_001042492.3(NF1):c.1400C>A (p.Thr467Lys)
|
rs1567841729
|
|
NM_001042492.3(NF1):c.1528-9dup
|
rs776722942
|
|
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr)
|
rs749745247
|
|
NM_001042492.3(NF1):c.1955G>C (p.Arg652Pro)
|
rs587778549
|
|
NM_001042492.3(NF1):c.1969T>A (p.Ser657Thr)
|
rs1471484159
|
|
NM_001042492.3(NF1):c.1988G>A (p.Gly663Glu)
|
rs2066993661
|
|
NM_001042492.3(NF1):c.2447G>C (p.Arg816Pro)
|
rs762709897
|
|
NM_001042492.3(NF1):c.2761G>A (p.Val921Met)
|
rs567023433
|
|
NM_001042492.3(NF1):c.2850+17T>A
|
|
|
NM_001042492.3(NF1):c.3679C>G (p.Leu1227Val)
|
rs876660431
|
|
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
|
|
|
NM_001042492.3(NF1):c.3833A>T (p.Asn1278Ile)
|
rs2067188951
|
|
NM_001042492.3(NF1):c.389A>G (p.His130Arg)
|
rs876660277
|
|
NM_001042492.3(NF1):c.3912A>T (p.Leu1304Phe)
|
rs2151438597
|
|
NM_001042492.3(NF1):c.4069T>C (p.Phe1357Leu)
|
rs1207255352
|
|
NM_001042492.3(NF1):c.4430+14del
|
rs774927748
|
|
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His)
|
rs1555618837
|
|
NM_001042492.3(NF1):c.4787C>G (p.Ala1596Gly)
|
rs1567865042
|
|
NM_001042492.3(NF1):c.4790G>T (p.Gly1597Val)
|
rs2067766230
|
|
NM_001042492.3(NF1):c.5134C>A (p.Pro1712Thr)
|
rs1567611556
|
|
NM_001042492.3(NF1):c.545A>G (p.Tyr182Cys)
|
rs2143707725
|
|
NM_001042492.3(NF1):c.5476C>G (p.His1826Asp)
|
rs1135402871
|
|
NM_001042492.3(NF1):c.5563C>T (p.Leu1855Phe)
|
rs2069385474
|
|
NM_001042492.3(NF1):c.6365C>T (p.Thr2122Ile)
|
rs878853907
|
|
NM_001042492.3(NF1):c.6428-3C>A
|
rs374014162
|
|
NM_001042492.3(NF1):c.655-5T>C
|
rs377264487
|
|
NM_001042492.3(NF1):c.6702A>G (p.Gln2234=)
|
|
|
NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys)
|
rs1555534961
|
|
NM_001042492.3(NF1):c.6819+5C>A
|
rs876659499
|
|
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=)
|
rs1135402896
|
|
NM_001042492.3(NF1):c.7190-6T>C
|
rs1597858313
|
|
NM_001042492.3(NF1):c.731-8del
|
rs1438618408
|
|
NM_001042492.3(NF1):c.7842G>T (p.Lys2614Asn)
|
rs1555536710
|
|
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg)
|
rs876657933
|
|
NM_001042492.3(NF1):c.8360C>T (p.Thr2787Ile)
|
|
|
NM_001042492.3(NF1):c.8378-13T>C
|
rs903336927
|
|
NM_001042492.3(NF1):c.959C>A (p.Ala320Asp)
|
rs1555610884
|
|
NM_001042517.2(DIAPH3):c.1885A>T (p.Ile629Phe)
|
|
|
NM_001042545.2(LTBP4):c.2150_2168delinsTCACCCT (p.Gln717_Ser723delinsLeuThrLeu)
|
|
|
NM_001042545.2(LTBP4):c.3866G>A (p.Gly1289Glu)
|
rs754438295
|
|
NM_001042545.2(LTBP4):c.4589del (p.Asp1530fs)
|
|
|
NM_001042631.3(SDHAF1):c.116A>C (p.His39Pro)
|
|
|
NM_001042631.3(SDHAF1):c.43T>C (p.Tyr15His)
|
|
|
NM_001042646.3(TRAK1):c.1A>G (p.Met1Val)
|
|
|
NM_001042681.2(RERE):c.1541-3_1541-1delinsAAT
|
rs2124375445
|
|
NM_001042681.2(RERE):c.2810C>T (p.Pro937Leu)
|
|
|
NM_001042681.2(RERE):c.2818C>T (p.Pro940Ser)
|
|
|
NM_001042681.2(RERE):c.3739G>A (p.Gly1247Arg)
|
|
|
NM_001042681.2(RERE):c.3791T>C (p.Val1264Ala)
|
|
|
NM_001042681.2(RERE):c.3841A>C (p.Thr1281Pro)
|
|
|
NM_001042681.2(RERE):c.4626C>A (p.His1542Gln)
|
|
|
NM_001044385.3(TMEM237):c.553+4del
|
rs1957812369
|
|
NM_001048174.2(MUTYH):c.-6-5T>G
|
rs876660715
|
|
NM_001048174.2(MUTYH):c.1010A>T (p.Lys337Met)
|
rs1553126588
|
|
NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe)
|
rs763862261
|
|
NM_001048174.2(MUTYH):c.1055C>G (p.Pro352Arg)
|
rs774441289
|
|
NM_001048174.2(MUTYH):c.115+3A>G
|
rs1553131280
|
|
NM_001048174.2(MUTYH):c.1174C>G (p.Leu392Val)
|
rs144079536
|
|
NM_001048174.2(MUTYH):c.1305G>C (p.Gln435His)
|
rs1434384304
|
|
NM_001048174.2(MUTYH):c.1392+7C>T
|
rs1570361183
|
|
NM_001048174.2(MUTYH):c.1411G>A (p.Gly471Ser)
|
rs1553124088
|
|
NM_001048174.2(MUTYH):c.1434+10C>G
|
rs1644612688
|
|
NM_001048174.2(MUTYH):c.1525A>C (p.Ile509Leu)
|
rs757615745
|
|
NM_001048174.2(MUTYH):c.305-7C>T
|
rs863224698
|
|
NM_001048174.2(MUTYH):c.365C>T (p.Thr122Ile)
|
rs745507536
|
|
NM_001048174.2(MUTYH):c.420G>A (p.Glu140=)
|
rs876658641
|
|
NM_001048174.2(MUTYH):c.479_492+1del
|
rs766553845
|
|
NM_001048174.2(MUTYH):c.480G>C (p.Glu160Asp)
|
rs1335408660
|
|
NM_001048174.2(MUTYH):c.484G>T (p.Ala162Ser)
|
rs764458059
|
|
NM_001048174.2(MUTYH):c.487C>T (p.Arg163Trp)
|
rs761101420
|
|
NM_001048174.2(MUTYH):c.502G>A (p.Glu168Lys)
|
rs745921592
|
|
NM_001048174.2(MUTYH):c.518T>C (p.Met173Thr)
|
rs1553128600
|
|
NM_001048174.2(MUTYH):c.568T>A (p.Tyr190Asn)
|
rs745808534
|
|
NM_001048174.2(MUTYH):c.610A>T (p.Thr204Ser)
|
rs587782351
|
|
NM_001048174.2(MUTYH):c.652G>A (p.Val218Ile)
|
rs587780749
|
|
NM_001048174.2(MUTYH):c.65G>A (p.Arg22Lys)
|
rs1376695165
|
|
NM_001048174.2(MUTYH):c.850-6T>G
|
|
|
NM_001048174.2(MUTYH):c.854A>T (p.Glu285Val)
|
rs1644998333
|
|
NM_001048174.2(MUTYH):c.872C>T (p.Ala291Val)
|
rs1570395209
|
|
NM_001048174.2(MUTYH):c.929_930delinsGC (p.Gln310Arg)
|
rs587780083
|
|
NM_001060.6(TBXA2R):c.*841A>G
|
|
|
NM_001060.6(TBXA2R):c.999G>T (p.Gln333His)
|
|
|
NM_001061.7(TBXAS1):c.1365-10G>A
|
rs765137338
|
|
NM_001061.7(TBXAS1):c.848T>C (p.Leu283Pro)
|
|
|
NM_001064.4(TKT):c.1016_1019dup (p.Asp341fs)
|
|
|
NM_001077207.4(SEC31A):c.2833C>T (p.Pro945Ser)
|
|
|
NM_001077207.4(SEC31A):c.511A>G (p.Ile171Val)
|
|
|
NM_001077207.4(SEC31A):c.944del (p.Asn315fs)
|
|
|
NM_001077350.3(NPRL3):c.630-10CT[2]
|
|
|
NM_001077365.2(POMT1):c.1093G>C (p.Val365Leu)
|
|
|
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)
|
rs119462986
|
|
NM_001077365.2(POMT1):c.2138G>A (p.Arg713His)
|
rs938573554
|
|
NM_001077365.2(POMT1):c.506C>G (p.Ser169Cys)
|
|
|
NM_001077415.3(CRELD1):c.*184G>A
|
|
|
NM_001077418.3(TMEM231):c.469G>C (p.Ala157Pro)
|
rs776437833
|
|
NM_001077418.3(TMEM231):c.497C>T (p.Pro166Leu)
|
rs549400559
|
|
NM_001077418.3(TMEM231):c.86T>C (p.Leu29Pro)
|
|
|
NM_001077446.4(TSEN34):c.250A>G (p.Thr84Ala)
|
rs2147079233
|
|
NM_001077446.4(TSEN34):c.488-2A>C
|
|
|
NM_001079.4(ZAP70):c.1274T>A (p.Phe425Tyr)
|
rs764958623
|
|
NM_001079.4(ZAP70):c.1748G>A (p.Arg583His)
|
rs1017182331
|
|
NM_001079.4(ZAP70):c.790+12_790+15dup
|
rs761349565
|
|
NM_001079668.3(NKX2-1):c.463+3_463+6del
|
rs1881201190
|
|
NM_001079802.2(FKTN):c.105+6T>C
|
rs754468850
|
|
NM_001079802.2(FKTN):c.374G>C (p.Gly125Ala)
|
rs142783718
|
|
NM_001079802.2(FKTN):c.665T>A (p.Val222Asp)
|
|
|
NM_001079802.2(FKTN):c.911-13A>G
|
rs766103012
|
|
NM_001079866.2(BCS1L):c.167G>A (p.Arg56Gln)
|
|
|
NM_001079866.2(BCS1L):c.487G>A (p.Glu163Lys)
|
|
|
NM_001080414.4(CCDC88C):c.2171C>T (p.Ala724Val)
|
|
|
NM_001080414.4(CCDC88C):c.2233G>A (p.Asp745Asn)
|
|
|
NM_001080414.4(CCDC88C):c.2416C>T (p.Leu806Phe)
|
|
|
NM_001080414.4(CCDC88C):c.3811G>A (p.Glu1271Lys)
|
|
|
NM_001080414.4(CCDC88C):c.46C>T (p.Pro16Ser)
|
|
|
NM_001080426.3(STYXL2):c.2912_2913del (p.Thr971fs)
|
rs572127797
|
|
NM_001080449.3(DNA2):c.1059A>T (p.Glu353Asp)
|
|
|
NM_001080449.3(DNA2):c.1061T>A (p.Leu354Ter)
|
rs2133402732
|
|
NM_001080449.3(DNA2):c.1289C>T (p.Thr430Ile)
|
|
|
NM_001080449.3(DNA2):c.1763+12T>C
|
|
|
NM_001080449.3(DNA2):c.193C>T (p.Arg65Cys)
|
rs540241779
|
|
NM_001080449.3(DNA2):c.52G>T (p.Glu18Ter)
|
rs1554911818
|
|
NM_001080449.3(DNA2):c.984_985insAA (p.Glu329fs)
|
|
|
NM_001080453.3(INTS1):c.5470A>G (p.Ser1824Gly)
|
|
|
NM_001080517.3(SETD5):c.1513C>T (p.His505Tyr)
|
|
|
NM_001080517.3(SETD5):c.2758G>A (p.Val920Ile)
|
rs1053026933
|
|
NM_001080517.3(SETD5):c.316T>C (p.Cys106Arg)
|
|
|
NM_001080779.2(MYO1C):c.185C>T (p.Ala62Val)
|
|
|
NM_001081.4(CUBN):c.8909G>A (p.Arg2970His)
|
|
|
NM_001081550.2(THOC2):c.587T>A (p.Ile196Asn)
|
|
|
NM_001081550.2(THOC2):c.923A>G (p.Gln308Arg)
|
rs2147807004
|
|
NM_001082538.3(TCTN1):c.1004_1013delinsCCTCACATACACAGCCTCACATACACAG (p.Asp335_Glu338delinsAlaSerHisThrGlnProHisIleHisArg)
|
|
|
NM_001082538.3(TCTN1):c.32_43del (p.Val11_Leu14del)
|
rs2135826994
|
|
NM_001083116.3(PRF1):c.1034C>T (p.Pro345Leu)
|
rs28933374
|
|
NM_001083116.3(PRF1):c.380A>G (p.Asn127Ser)
|
rs202091142
|
|
NM_001083116.3(PRF1):c.443C>G (p.Ala148Gly)
|
rs142012387
|
|
NM_001083116.3(PRF1):c.540-1G>T
|
|
|
NM_001083116.3(PRF1):c.797T>C (p.Ile266Thr)
|
rs763667216
|
|
NM_001083603.3(PTCH1):c.17G>C (p.Arg6Thr)
|
|
|
NM_001083603.3(PTCH1):c.95C>T (p.Thr32Ile)
|
|
|
NM_001083961.2(WDR62):c.3811G>A (p.Ala1271Thr)
|
|
|
NM_001083962.2(TCF4):c.1147-3C>G
|
rs2056333687
|
|
NM_001085049.3(MRAS):c.-7G>A
|
rs368097379
|
|
NM_001085049.3(MRAS):c.271G>A (p.Val91Ile)
|
|
|
NM_001085458.2(CTNND1):c.1423A>G (p.Thr475Ala)
|
|
|
NM_001089.3(ABCA3):c.1112-20G>A
|
|
|
NM_001089.3(ABCA3):c.115C>A (p.Leu39Ile)
|
|
|
NM_001089.3(ABCA3):c.1611+6G>A
|
|
|
NM_001089.3(ABCA3):c.2012G>A (p.Arg671His)
|
rs759555069
|
|
NM_001089.3(ABCA3):c.2880G>C (p.Leu960Phe)
|
rs1022923684
|
|
NM_001089.3(ABCA3):c.3579C>G (p.Ile1193Met)
|
|
|
NM_001089.3(ABCA3):c.4297G>C (p.Glu1433Gln)
|
|
|
NM_001089.3(ABCA3):c.537G>C (p.Trp179Cys)
|
|
|
NM_001098511.3(KIF2A):c.1031G>A (p.Arg344Gln)
|
|
|
NM_001098511.3(KIF2A):c.2136A>T (p.Leu712Phe)
|
|
|
NM_001098514.3(C16orf89):c.479del (p.Asp160fs)
|
|
|
NM_001098671.2(RASGRP2):c.1133A>T (p.Tyr378Phe)
|
|
|
NM_001098671.2(RASGRP2):c.1159C>G (p.Arg387Gly)
|
|
|
NM_001098671.2(RASGRP2):c.456C>G (p.His152Gln)
|
|
|
NM_001098816.3(TENM4):c.5383G>A (p.Val1795Met)
|
|
|
NM_001098816.3(TENM4):c.7262A>T (p.Tyr2421Phe)
|
|
|
NM_001098816.3(TENM4):c.7912C>T (p.Arg2638Trp)
|
|
|
NM_001099287.2(NIPAL4):c.-103_-99delinsT
|
rs1754050150
|
|
NM_001099287.2(NIPAL4):c.11G>A (p.Arg4Gln)
|
|
|
NM_001099857.5(IKBKG):c.1060G>A (p.Glu354Lys)
|
rs782406063
|
|
NM_001101.5(ACTB):c.213C>G (p.Ile71Met)
|
rs752744378
|
|
NM_001101.5(ACTB):c.984+3G>A
|
|
|
NM_001101362.3(KBTBD13):c.197G>A (p.Arg66His)
|
rs939242678
|
|
NM_001101362.3(KBTBD13):c.335C>A (p.Ala112Glu)
|
|
|
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser)
|
rs200549195
|
|
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys)
|
rs200549195
|
|
NM_001102416.3(KNG1):c.727T>G (p.Ser243Ala)
|
|
|
NM_001102469.2(LIPN):c.108+1G>A
|
rs928347834
|
|
NM_001102469.2(LIPN):c.1092C>A (p.Tyr364Ter)
|
|
|
NM_001102469.2(LIPN):c.1112G>A (p.Trp371Ter)
|
|
|
NM_001102469.2(LIPN):c.246T>G (p.Tyr82Ter)
|
rs745861312
|
|
NM_001102469.2(LIPN):c.58G>T (p.Gly20Ter)
|
|
|
NM_001103.4(ACTN2):c.1098G>C (p.Lys366Asn)
|
rs1243320734
|
|
NM_001103.4(ACTN2):c.126+13C>T
|
rs1440134547
|
|
NM_001103.4(ACTN2):c.1564G>A (p.Ala522Thr)
|
rs1455367143
|
|
NM_001103.4(ACTN2):c.2113G>A (p.Ala705Thr)
|
rs1659517244
|
|
NM_001103.4(ACTN2):c.2233A>T (p.Arg745Ter)
|
rs2102947099
|
|
NM_001103.4(ACTN2):c.2331T>G (p.Asp777Glu)
|
|
|
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile)
|
rs148833906
|
|
NM_001103.4(ACTN2):c.399G>A (p.Met133Ile)
|
|
|
NM_001103.4(ACTN2):c.698-4T>A
|
rs1402138776
|
|
NM_001103146.3(GIGYF2):c.1317G>C (p.Gln439His)
|
|
|
NM_001105206.3(LAMA4):c.1077+13G>C
|
|
|
NM_001105206.3(LAMA4):c.5066A>T (p.His1689Leu)
|
|
|
NM_001105247.2(ARMC5):c.1456A>C (p.Met486Leu)
|
|
|
NM_001109878.2(TBX22):c.868G>A (p.Val290Ile)
|
rs2147602532
|
|
NM_001110219.3(GJB6):c.159C>A (p.Cys53Ter)
|
|
|
NM_001110219.3(GJB6):c.376del (p.Val126fs)
|
rs2137332907
|
|
NM_001110556.2(FLNA):c.*11C>T
|
|
|
NM_001110556.2(FLNA):c.1117T>A (p.Tyr373Asn)
|
rs2148118056
|
|
NM_001110556.2(FLNA):c.1628A>G (p.Tyr543Cys)
|
rs41304984
|
|
NM_001110556.2(FLNA):c.2405-8_2405-5dup
|
rs782040815
|
|
NM_001110556.2(FLNA):c.2788G>A (p.Asp930Asn)
|
|
|
NM_001110556.2(FLNA):c.2826+20C>T
|
|
|
NM_001110556.2(FLNA):c.393C>A (p.Asp131Glu)
|
|
|
NM_001110556.2(FLNA):c.4142+17G>A
|
|
|
NM_001110556.2(FLNA):c.4A>T (p.Ser2Cys)
|
|
|
NM_001110556.2(FLNA):c.521G>A (p.Gly174Asp)
|
rs1557179659
|
|
NM_001110556.2(FLNA):c.6372C>G (p.His2124Gln)
|
rs781999359
|
|
NM_001110792.2(MECP2):c.1116_1117delinsTA (p.Pro373Thr)
|
rs2148661261
|
|
NM_001110792.2(MECP2):c.1345C>A (p.Gln449Lys)
|
rs1569548273
|
|
NM_001110792.2(MECP2):c.344G>A (p.Gly115Asp)
|
rs267608450
|
|
NM_001110792.2(MECP2):c.62+5439T>C
|
rs2148763055
|
|
NM_001110792.2(MECP2):c.631C>A (p.Pro211Thr)
|
|
|
NM_001110792.2(MECP2):c.661G>T (p.Val221Leu)
|
rs2065951467
|
|
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup)
|
rs398123566
|
|
NM_001110792.2(MECP2):c.806C>A (p.Ala269Asp)
|
|
|
NM_001111067.4(ACVR1):c.271G>A (p.Val91Met)
|
|
|
NM_001111125.3(IQSEC2):c.2404A>G (p.Met802Val)
|
|
|
NM_001111125.3(IQSEC2):c.2781CCT[1] (p.Leu929del)
|
rs1602271471
|
|
NM_001111125.3(IQSEC2):c.619C>T (p.Arg207Cys)
|
|
|
NM_001112741.2(KCNC1):c.138C>G (p.Phe46Leu)
|
rs1848763448
|
|
NM_001113491.2(SEPTIN9):c.19+2del
|
|
|
NM_001113525.2(ZNF276):c.*631G>A
|
|
|
NM_001114134.2(EPB42):c.1A>G (p.Met1Val)
|
|
|
NM_001114134.2(EPB42):c.971+8_971+9delinsAA
|
rs2142290623
|
|
NM_001114748.2(TMEM240):c.445G>A (p.Glu149Lys)
|
|
|
NM_001114753.3(ENG):c.492C>A (p.Asp164Glu)
|
|
|
NM_001122752.2(SERPINI1):c.757A>T (p.Met253Leu)
|
|
|
NM_001122769.3(LCA5):c.1979del (p.Ser660fs)
|
|
|
NM_001122769.3(LCA5):c.2011C>T (p.Arg671Ter)
|
rs765762174
|
|
NM_001122955.4(BSCL2):c.178C>T (p.Pro60Ser)
|
|
|
NM_001123385.2(BCOR):c.3340G>C (p.Glu1114Gln)
|
rs757991049
|
|
NM_001123385.2(BCOR):c.935_936delinsCC (p.Gln312Pro)
|
|
|
NM_001126049.2(KLLN):c.-1031G>A
|
rs1858333383
|
|
NM_001126049.2(KLLN):c.-1040C>A
|
|
|
NM_001126049.2(KLLN):c.-801C>T
|
rs1389966419
|
|
NM_001126049.2(KLLN):c.-949CAGGG[4]
|
rs587781357
|
|
NM_001126049.2(KLLN):c.-951G>A
|
rs1064793240
|
|
NM_001126049.2(KLLN):c.-952G>A
|
|
|
NM_001126049.2(KLLN):c.-971A>C
|
|
|
NM_001126108.2(SLC12A3):c.1045C>G (p.Pro349Ala)
|
|
|
NM_001126108.2(SLC12A3):c.1160T>C (p.Leu387Pro)
|
|
|
NM_001126108.2(SLC12A3):c.1247G>C (p.Cys416Ser)
|
rs1429832884
|
|
NM_001126108.2(SLC12A3):c.1373C>T (p.Thr458Met)
|
|
|
NM_001126108.2(SLC12A3):c.1568C>T (p.Ala523Val)
|
|
|
NM_001126108.2(SLC12A3):c.205C>A (p.His69Asn)
|
|
|
NM_001126108.2(SLC12A3):c.2720+8C>T
|
rs957373573
|
|
NM_001126108.2(SLC12A3):c.509T>A (p.Leu170Gln)
|
|
|
NM_001126108.2(SLC12A3):c.581C>T (p.Thr194Ile)
|
|
|
NM_001126108.2(SLC12A3):c.781C>T (p.Arg261Cys)
|
|
|
NM_001126108.2(SLC12A3):c.793G>A (p.Val265Met)
|
|
|
NM_001126128.2(PROK2):c.297dup (p.Gly100fs)
|
rs768413190
|
|
NM_001127222.2(CACNA1A):c.1072G>C (p.Val358Leu)
|
|
|
NM_001127222.2(CACNA1A):c.2270C>G (p.Ser757Cys)
|
|
|
NM_001127222.2(CACNA1A):c.2536G>A (p.Asp846Asn)
|
|
|
NM_001127222.2(CACNA1A):c.2548G>A (p.Gly850Ser)
|
|
|
NM_001127222.2(CACNA1A):c.4250G>T (p.Arg1417Leu)
|
|
|
NM_001127222.2(CACNA1A):c.5053G>A (p.Val1685Met)
|
rs1442400930
|
|
NM_001127222.2(CACNA1A):c.5057A>G (p.Gln1686Arg)
|
rs2055848608
|
|
NM_001127222.2(CACNA1A):c.6056C>T (p.Ala2019Val)
|
|
|
NM_001127222.2(CACNA1A):c.632-8C>G
|
rs762951690
|
|
NM_001127222.2(CACNA1A):c.6322C>T (p.Arg2108Cys)
|
|
|
NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu)
|
rs1064793075
|
|
NM_001127222.2(CACNA1A):c.6775C>T (p.Arg2259Trp)
|
rs750267834
|
|
NM_001127222.2(CACNA1A):c.7206G>A (p.Pro2402=)
|
|
|
NM_001127392.3(MYRF):c.425C>G (p.Ser142Trp)
|
rs2066143314
|
|
NM_001127644.2(GABRA1):c.824A>G (p.Asn275Ser)
|
rs1755063824
|
|
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys)
|
rs3729751
|
|
NM_001128.6(AP1G1):c.1816G>A (p.Glu606Lys)
|
|
|
NM_001128159.3(VPS53):c.1A>G (p.Met1Val)
|
|
|
NM_001128159.3(VPS53):c.2223+5T>C
|
|
|
NM_001128178.3(NPHP1):c.1269+4T>C
|
|
|
NM_001128178.3(NPHP1):c.1586A>G (p.Tyr529Cys)
|
rs1359420201
|
|
NM_001128178.3(NPHP1):c.2T>C (p.Met1Thr)
|
|
|
NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del)
|
rs777574728
|
|
NM_001128425.2(MUTYH):c.10C>T (p.Leu4Phe)
|
rs587782404
|
|
NM_001128425.2(MUTYH):c.29G>A (p.Arg10His)
|
rs755928199
|
|
NM_001128431.4(SLC39A14):c.21C>G (p.His7Gln)
|
|
|
NM_001128840.3(CACNA1D):c.1581G>A (p.Trp527Ter)
|
|
|
NM_001128840.3(CACNA1D):c.4464A>G (p.Ile1488Met)
|
|
|
NM_001128840.3(CACNA1D):c.5629G>A (p.Asp1877Asn)
|
|
|
NM_001128840.3(CACNA1D):c.5681A>G (p.Asp1894Gly)
|
|
|
NM_001128840.3(CACNA1D):c.5936G>C (p.Arg1979Pro)
|
rs143354476
|
|
NM_001129820.2(SLFN14):c.1904+1G>T
|
rs552439070
|
|
NM_001130004.2(ACTN1):c.2290G>A (p.Gly764Ser)
|
|
|
NM_001130004.2(ACTN1):c.428-4A>T
|
|
|
NM_001130145.3(YAP1):c.62C>T (p.Ser21Leu)
|
|
|
NM_001130438.3(SPTAN1):c.1085+4C>T
|
|
|
NM_001130438.3(SPTAN1):c.6254T>C (p.Leu2085Pro)
|
rs1564315528
|
|
NM_001130438.3(SPTAN1):c.6841C>A (p.Leu2281Ile)
|
rs1341044436
|
|
NM_001130698.2(TRPC3):c.158C>T (p.Pro53Leu)
|
|
|
NM_001130698.2(TRPC3):c.1778A>G (p.Gln593Arg)
|
|
|
NM_001130823.3(DNMT1):c.1492+3_1492+6del
|
|
|
NM_001130823.3(DNMT1):c.3524-5G>T
|
|
|
NM_001130987.2(DYSF):c.1033+4A>T
|
rs1397221551
|
|
NM_001130987.2(DYSF):c.1276+5G>C
|
rs766433603
|
|
NM_001130987.2(DYSF):c.1577-1645G>A
|
|
|
NM_001130987.2(DYSF):c.3325C>T (p.Arg1109Cys)
|
rs765271624
|
|
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)
|
rs141704244
|
|
NM_001130987.2(DYSF):c.526T>G (p.Ser176Ala)
|
|
|
NM_001130987.2(DYSF):c.5406G>C (p.Glu1802Asp)
|
|
|
NM_001130987.2(DYSF):c.5635G>A (p.Val1879Met)
|
rs886042880
|
|
NM_001130987.2(DYSF):c.847C>T (p.Arg283Trp)
|
rs769180834
|
|
NM_001134363.3(RBM20):c.1338-9C>G
|
|
|
NM_001134363.3(RBM20):c.1961C>T (p.Ser654Phe)
|
|
|
NM_001134363.3(RBM20):c.2071G>A (p.Ala691Thr)
|
|
|
NM_001134363.3(RBM20):c.2087A>G (p.Asn696Ser)
|
rs1844782473
|
|
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met)
|
rs372370653
|
|
NM_001134363.3(RBM20):c.3242C>T (p.Pro1081Leu)
|
|
|
NM_001134363.3(RBM20):c.3584C>T (p.Ser1195Phe)
|
rs753102653
|
|
NM_001134363.3(RBM20):c.530C>G (p.Thr177Arg)
|
rs183130427
|
|
NM_001134407.3(GRIN2A):c.3391G>T (p.Asp1131Tyr)
|
rs1243412120
|
|
NM_001134407.3(GRIN2A):c.3914G>C (p.Ser1305Thr)
|
|
|
NM_001134407.3(GRIN2A):c.4235G>C (p.Cys1412Ser)
|
rs1900675462
|
|
NM_001134793.2(HYLS1):c.546C>G (p.Tyr182Ter)
|
rs149584336
|
|
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)
|
rs374009466
|
|
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)
|
rs863225144
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001134831.2(AHI1):c.3484C>T (p.His1162Tyr)
|
|
|
NM_001135651.3(EIF2AK2):c.1504A>G (p.Ile502Val)
|
|
|
NM_001136035.4(TRMT1):c.1107-13C>T
|
|
|
NM_001136035.4(TRMT1):c.1228C>T (p.Arg410Cys)
|
|
|
NM_001136157.2(OTUD5):c.377_403del (p.Ala126_Gly134del)
|
rs1268568488
|
|
NM_001139.3(ALOX12B):c.410T>A (p.Ile137Asn)
|
rs397514530
|
|
NM_001142800.2(EYS):c.1418G>T (p.Gly473Val)
|
rs540611114
|
|
NM_001142800.2(EYS):c.2803G>A (p.Glu935Lys)
|
rs1403474828
|
|
NM_001142800.2(EYS):c.3131A>G (p.Asn1044Ser)
|
|
|
NM_001142800.2(EYS):c.400C>T (p.His134Tyr)
|
|
|
NM_001142800.2(EYS):c.4606C>G (p.Gln1536Glu)
|
rs557152369
|
|
NM_001142800.2(EYS):c.4963T>A (p.Leu1655Met)
|
|
|
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser)
|
rs915505702
|
|
NM_001142800.2(EYS):c.7624G>T (p.Val2542Phe)
|
rs2149670380
|
|
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp)
|
rs527236064
|
|
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly)
|
rs1554163993
|
|
NM_001142800.2(EYS):c.9178A>C (p.Ile3060Leu)
|
|
|
NM_001142800.2(EYS):c.9248G>A (p.Gly3083Asp)
|
|
|
NM_001142800.2(EYS):c.9428_9429dup (p.Thr3144fs)
|
rs1270198704
|
|
NM_001142966.3(GREB1L):c.4698G>T (p.Met1566Ile)
|
|
|
NM_001144967.3(NEDD4L):c.968G>C (p.Gly323Ala)
|
rs991844120
|
|
NM_001145026.2(PTPRQ):c.563T>C (p.Phe188Ser)
|
|
|
NM_001145073.3(USP27X):c.89C>T (p.Ser30Leu)
|
|
|
NM_001145358.2(SIN3A):c.2893A>G (p.Met965Val)
|
|
|
NM_001145358.2(SIN3A):c.2900G>A (p.Arg967Gln)
|
|
|
NM_001145358.2(SIN3A):c.377C>T (p.Ala126Val)
|
|
|
NM_001145536.2(C17orf107):c.*1010C>G
|
rs774425374
|
|
NM_001145809.2(MYH14):c.1021G>C (p.Gly341Arg)
|
|
|
NM_001145809.2(MYH14):c.1343T>C (p.Leu448Pro)
|
|
|
NM_001145809.2(MYH14):c.140A>T (p.Gln47Leu)
|
|
|
NM_001145809.2(MYH14):c.2821G>A (p.Ala941Thr)
|
|
|
NM_001145809.2(MYH14):c.3941G>A (p.Arg1314His)
|
|
|
NM_001145809.2(MYH14):c.4539+14G>A
|
rs779431768
|
|
NM_001145809.2(MYH14):c.4616G>T (p.Arg1539Leu)
|
rs576482145
|
|
NM_001145809.2(MYH14):c.5959C>T (p.Arg1987Ter)
|
rs727503230
|
|
NM_001148.6(ANK2):c.10054G>C (p.Val3352Leu)
|
|
|
NM_001148.6(ANK2):c.10310T>C (p.Ile3437Thr)
|
rs886039169
|
|
NM_001148.6(ANK2):c.11032+17G>A
|
rs587780853
|
|
NM_001148.6(ANK2):c.11807A>G (p.Tyr3936Cys)
|
rs377555678
|
|
NM_001148.6(ANK2):c.2460CAC[6] (p.Thr826dup)
|
rs770530257
|
|
NM_001148.6(ANK2):c.266C>A (p.Ser89Tyr)
|
|
|
NM_001148.6(ANK2):c.4055A>G (p.Asp1352Gly)
|
rs2153979257
|
|
NM_001148.6(ANK2):c.4371+19T>C
|
rs1057522286
|
|
NM_001148.6(ANK2):c.7420G>A (p.Val2474Ile)
|
|
|
NM_001148.6(ANK2):c.8133G>T (p.Gln2711His)
|
rs771607762
|
|
NM_001148.6(ANK2):c.9751G>C (p.Ala3251Pro)
|
rs2095950515
|
|
NM_001151.4(SLC25A4):c.-15C>A
|
|
|
NM_001159702.3(FHL1):c.754G>A (p.Gly252Arg)
|
|
|
NM_001160036.2(RHOBTB2):c.20G>A (p.Gly7Asp)
|
rs186695833
|
|
NM_001161352.2(KCNMA1):c.2327G>T (p.Arg776Leu)
|
|
|
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly)
|
rs1555528807
|
|
NM_001161352.2(KCNMA1):c.31_45del (p.Ser11_Gly15del)
|
rs752334052
|
|
NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)
|
|
|
NM_001162501.2(TNRC6B):c.3936+8G>A
|
|
|
NM_001162501.2(TNRC6B):c.3961CAG[5] (p.Gln1326_Gln1328del)
|
|
|
NM_001162501.2(TNRC6B):c.3995G>T (p.Gly1332Val)
|
|
|
NM_001162501.2(TNRC6B):c.4577C>G (p.Thr1526Ser)
|
|
|
NM_001162501.2(TNRC6B):c.5191C>G (p.Gln1731Glu)
|
|
|
NM_001164277.2(SLC37A4):c.*66_*68del
|
|
|
NM_001164277.2(SLC37A4):c.343G>A (p.Gly115Arg)
|
|
|
NM_001164508.2(NEB):c.10175G>A (p.Arg3392Lys)
|
rs2154058460
|
|
NM_001164508.2(NEB):c.1051G>A (p.Asp351Asn)
|
rs2149873825
|
|
NM_001164508.2(NEB):c.10775G>A (p.Ser3592Asn)
|
rs2154022323
|
|
NM_001164508.2(NEB):c.11326C>G (p.His3776Asp)
|
rs770398302
|
|
NM_001164508.2(NEB):c.11601+6T>A
|
|
|
NM_001164508.2(NEB):c.11870A>G (p.Asp3957Gly)
|
rs766565558
|
|
NM_001164508.2(NEB):c.16910_16911inv (p.Pro5637Leu)
|
|
|
NM_001164508.2(NEB):c.17827A>G (p.Asn5943Asp)
|
rs1380251124
|
|
NM_001164508.2(NEB):c.18693+4A>C
|
|
|
NM_001164508.2(NEB):c.18733G>A (p.Val6245Ile)
|
|
|
NM_001164508.2(NEB):c.18820C>T (p.His6274Tyr)
|
rs2153711522
|
|
NM_001164508.2(NEB):c.19428+16C>T
|
rs1022784479
|
|
NM_001164508.2(NEB):c.20157+5C>T
|
|
|
NM_001164508.2(NEB):c.21419T>A (p.Ile7140Asn)
|
|
|
NM_001164508.2(NEB):c.21533A>G (p.Lys7178Arg)
|
rs1279019316
|
|
NM_001164508.2(NEB):c.22479+5T>A
|
|
|
NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr)
|
rs140967744
|
|
NM_001164508.2(NEB):c.24067A>G (p.Thr8023Ala)
|
rs1323764871
|
|
NM_001164508.2(NEB):c.24114G>A (p.Ser8038=)
|
rs781581005
|
|
NM_001164508.2(NEB):c.36+4A>G
|
|
|
NM_001164508.2(NEB):c.3717C>G (p.Ser1239Arg)
|
rs765671775
|
|
NM_001164508.2(NEB):c.4396G>A (p.Ala1466Thr)
|
rs2099279944
|
|
NM_001164508.2(NEB):c.5246A>G (p.Tyr1749Cys)
|
|
|
NM_001164508.2(NEB):c.5849A>C (p.Lys1950Thr)
|
rs758655350
|
|
NM_001164508.2(NEB):c.6803G>A (p.Ser2268Asn)
|
rs2099075647
|
|
NM_001164508.2(NEB):c.7010T>C (p.Val2337Ala)
|
rs1558825869
|
|
NM_001164508.2(NEB):c.8994+5G>A
|
|
|
NM_001165963.4(SCN1A):c.1572A>T (p.Glu524Asp)
|
|
|
NM_001165963.4(SCN1A):c.3752T>G (p.Met1251Arg)
|
rs749638533
|
|
NM_001165963.4(SCN1A):c.3968C>T (p.Pro1323Leu)
|
rs1057521746
|
|
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)
|
|
|
NM_001165963.4(SCN1A):c.4916G>A (p.Arg1639His)
|
|
|
NM_001165963.4(SCN1A):c.5209A>G (p.Lys1737Glu)
|
rs1553520293
|
|
NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln)
|
rs1559100385
|
|
NM_001165963.4(SCN1A):c.5798G>A (p.Arg1933Gln)
|
rs556893466
|
|
NM_001165963.4(SCN1A):c.964+12_964+15del
|
|
|
NM_001167.4(XIAP):c.616_622delinsC (p.Lys206_Lys208delinsGln)
|
|
|
NM_001170629.2(CHD8):c.2611A>G (p.Ile871Val)
|
|
|
NM_001170629.2(CHD8):c.28G>A (p.Asp10Asn)
|
|
|
NM_001170629.2(CHD8):c.3454G>A (p.Val1152Ile)
|
rs1888123647
|
|
NM_001170629.2(CHD8):c.416C>G (p.Ser139Cys)
|
rs1889549675
|
|
NM_001170629.2(CHD8):c.4780G>A (p.Asp1594Asn)
|
|
|
NM_001170629.2(CHD8):c.5052-18G>A
|
|
|
NM_001170629.2(CHD8):c.7256C>A (p.Ala2419Asp)
|
|
|
NM_001170629.2(CHD8):c.7317del (p.Ser2440fs)
|
|
|
NM_001172509.2(SATB2):c.1543-8C>G
|
|
|
NM_001172509.2(SATB2):c.2129T>A (p.Met710Lys)
|
|
|
NM_001173464.2(KIF21A):c.1417GAG[1] (p.Glu474del)
|
|
|
NM_001173464.2(KIF21A):c.3779+16T>A
|
|
|
NM_001174089.2(SLC4A11):c.1147G>A (p.Glu383Lys)
|
rs267607065
|
|
NM_001174089.2(SLC4A11):c.1168+3G>A
|
|
|
NM_001174089.2(SLC4A11):c.1489+6T>C
|
|
|
NM_001174089.2(SLC4A11):c.1772T>G (p.Ile591Ser)
|
|
|
NM_001174089.2(SLC4A11):c.337G>A (p.Asp113Asn)
|
|
|
NM_001174089.2(SLC4A11):c.728T>C (p.Met243Thr)
|
|
|
NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys)
|
rs747597620
|
|
NM_001182.5(ALDH7A1):c.1A>G (p.Met1Val)
|
|
|
NM_001182.5(ALDH7A1):c.50dup (p.Leu18fs)
|
rs1444879414
|
|
NM_001182.5(ALDH7A1):c.826A>C (p.Thr276Pro)
|
rs796052260
|
|
NM_001182.5(ALDH7A1):c.902A>G (p.Asn301Ser)
|
rs121912711
|
|
NM_001183.6(ATP6AP1):c.1159C>T (p.Arg387Cys)
|
|
|
NM_001184880.2(PCDH19):c.1435G>A (p.Asp479Asn)
|
rs1064794763
|
|
NM_001184880.2(PCDH19):c.1711G>C (p.Gly571Arg)
|
|
|
NM_001184880.2(PCDH19):c.1924G>A (p.Val642Met)
|
rs1221643775
|
|
NM_001190274.2(FBXO11):c.1673G>C (p.Arg558Pro)
|
|
|
NM_001190274.2(FBXO11):c.2447-10T>C
|
|
|
NM_001190274.2(FBXO11):c.2655-14T>G
|
|
|
NM_001190274.2(FBXO11):c.718-7A>G
|
|
|
NM_001190737.2(NFIB):c.1118T>G (p.Ile373Ser)
|
|
|
NM_001190880.3(HYI):c.312-19C>G
|
|
|
NM_001193313.2(SUGCT):c.314G>A (p.Ser105Asn)
|
|
|
NM_001193315.2(VIPAS39):c.253C>T (p.Arg85Cys)
|
|
|
NM_001193315.2(VIPAS39):c.842C>G (p.Pro281Arg)
|
|
|
NM_001194.4(HCN2):c.371C>T (p.Ser124Leu)
|
|
|
NM_001197104.2(KMT2A):c.130C>A (p.Pro44Thr)
|
rs1437526128
|
|
NM_001197104.2(KMT2A):c.134C>G (p.Pro45Arg)
|
rs2134152876
|
|
NM_001197104.2(KMT2A):c.1877G>A (p.Arg626Lys)
|
|
|
NM_001197104.2(KMT2A):c.209G>A (p.Ser70Asn)
|
rs1177309170
|
|
NM_001197104.2(KMT2A):c.6446G>C (p.Arg2149Pro)
|
|
|
NM_001197104.2(KMT2A):c.7193A>T (p.Glu2398Val)
|
|
|
NM_001197104.2(KMT2A):c.7463A>G (p.Asp2488Gly)
|
|
|
NM_001197104.2(KMT2A):c.841C>G (p.Leu281Val)
|
|
|
NM_001197104.2(KMT2A):c.8766A>C (p.Glu2922Asp)
|
rs2134400611
|
|
NM_001197104.2(KMT2A):c.9953G>C (p.Gly3318Ala)
|
rs1950572153
|
|
NM_001198533.2(OXR1):c.2037+3G>A
|
rs2131557742
|
|
NM_001199138.2(NLRC4):c.263-3T>C
|
|
|
NM_001199753.2(CPT1C):c.1160+3A>G
|
|
|
NM_001199753.2(CPT1C):c.1577C>G (p.Ser526Cys)
|
|
|
NM_001199753.2(CPT1C):c.826G>A (p.Val276Ile)
|
|
|
NM_001201543.2(FAM161A):c.102C>A (p.Asp34Glu)
|
rs377215266
|
|
NM_001201543.2(FAM161A):c.2034_2037del (p.Glu680fs)
|
rs748147923
|
|
NM_001201550.3(CFHR4):c.204G>A (p.Trp68Ter)
|
|
|
NM_001201550.3(CFHR4):c.800-2A>G
|
|
|
NM_001202.6(BMP4):c.733C>T (p.Arg245Trp)
|
|
|
NM_001205293.3(CACNA1E):c.1224A>G (p.Glu408=)
|
|
|
NM_001205293.3(CACNA1E):c.1598G>A (p.Arg533His)
|
rs999139568
|
|
NM_001205293.3(CACNA1E):c.2143-1G>T
|
|
|
NM_001205293.3(CACNA1E):c.4273A>G (p.Thr1425Ala)
|
|
|
NM_001205293.3(CACNA1E):c.4816-19A>T
|
|
|
NM_001206744.2(TPO):c.1750C>T (p.Arg584Trp)
|
|
|
NM_001206744.2(TPO):c.1970T>C (p.Ile657Thr)
|
|
|
NM_001206744.2(TPO):c.2386G>A (p.Asp796Asn)
|
|
|
NM_001206744.2(TPO):c.2513G>A (p.Cys838Tyr)
|
|
|
NM_001206744.2(TPO):c.2723_2732del (p.Arg908fs)
|
|
|
NM_001220.5(CAMK2B):c.391G>C (p.Gly131Arg)
|
|
|
NM_001220.5(CAMK2B):c.414+16A>T
|
|
|
NM_001231.5(CASQ1):c.1168G>A (p.Asp390Asn)
|
|
|
NM_001231.5(CASQ1):c.985-1G>A
|
|
|
NM_001232.4(CASQ2):c.101T>G (p.Val34Gly)
|
rs1280686043
|
|
NM_001232.4(CASQ2):c.1085T>C (p.Ile362Thr)
|
rs1557783735
|
|
NM_001232.4(CASQ2):c.420+17A>T
|
|
|
NM_001232.4(CASQ2):c.992T>C (p.Ile331Thr)
|
rs2101053760
|
|
NM_001235.5(SERPINH1):c.1243C>T (p.Arg415Ter)
|
|
|
NM_001235.5(SERPINH1):c.774G>A (p.Met258Ile)
|
|
|
NM_001242896.3(DEPDC5):c.1218-13G>C
|
|
|
NM_001242896.3(DEPDC5):c.2288G>T (p.Arg763Leu)
|
rs542384516
|
|
NM_001242896.3(DEPDC5):c.3292C>T (p.Arg1098Cys)
|
rs777509933
|
|
NM_001242896.3(DEPDC5):c.483+6A>G
|
|
|
NM_001242957.3(MAK):c.1376C>G (p.Pro459Arg)
|
rs2127532782
|
|
NM_001242957.3(MAK):c.1802G>A (p.Trp601Ter)
|
|
|
NM_001242957.3(MAK):c.552G>C (p.Trp184Cys)
|
|
|
NM_001243279.3(ACSF3):c.1073C>A (p.Thr358Asn)
|
|
|
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
|
|
|
NM_001243279.3(ACSF3):c.1673G>A (p.Arg558Gln)
|
rs140328142
|
|
NM_001243279.3(ACSF3):c.311A>T (p.Asn104Ile)
|
rs1378197369
|
|
NM_001243279.3(ACSF3):c.395C>A (p.Ala132Asp)
|
rs2151407600
|
|
NM_001244008.2(KIF1A):c.3219CCT[2] (p.Leu1076del)
|
rs1167417315
|
|
NM_001244008.2(KIF1A):c.4778C>A (p.Pro1593Gln)
|
rs200902828
|
|
NM_001244008.2(KIF1A):c.710C>T (p.Thr237Ile)
|
|
|
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln)
|
rs775399768
|
|
NM_001250.6(CD40):c.188G>A (p.Gly63Asp)
|
rs1261429888
|
|
NM_001250.6(CD40):c.51+7T>C
|
|
|
NM_001252024.2(TRPM1):c.4013T>G (p.Leu1338Arg)
|
|
|
NM_001253852.3(AP4B1):c.-2_4delinsGCCA (p.Met1fs)
|
rs1558100393
|
|
NM_001253852.3(AP4B1):c.505C>A (p.Arg169Ser)
|
rs753402898
|
|
NM_001256071.3(RNF213):c.3608C>T (p.Ser1203Leu)
|
|
|
NM_001256071.3(RNF213):c.8149G>A (p.Asp2717Asn)
|
|
|
NM_001256071.3(RNF213):c.8212C>G (p.Leu2738Val)
|
|
|
NM_001256071.3(RNF213):c.962_963inv (p.Met321Thr)
|
|
|
NM_001256071.3(RNF213):c.985G>A (p.Gly329Ser)
|
|
|
NM_001256317.3(TMPRSS3):c.1250C>T (p.Ala417Val)
|
|
|
NM_001256317.3(TMPRSS3):c.1283A>G (p.Asn428Ser)
|
|
|
NM_001256317.3(TMPRSS3):c.1303C>G (p.Arg435Gly)
|
rs565348874
|
|
NM_001256545.2(MEGF10):c.542G>A (p.Arg181His)
|
rs377547826
|
|
NM_001257180.2(SLC20A2):c.811T>C (p.Phe271Leu)
|
|
|
NM_001257291.2(SLC9A7):c.1750G>A (p.Asp584Asn)
|
rs2146699107
|
|
NM_001257291.2(SLC9A7):c.706C>T (p.Leu236Phe)
|
|
|
NM_001267550.2(TTN):c.101347A>C (p.Lys33783Gln)
|
rs1690916622
|
|
NM_001267550.2(TTN):c.102371G>A (p.Ser34124Asn)
|
|
|
NM_001267550.2(TTN):c.102670C>A (p.Leu34224Ile)
|
|
|
NM_001267550.2(TTN):c.103477G>A (p.Val34493Ile)
|
rs1166346683
|
|
NM_001267550.2(TTN):c.103659AGA[2] (p.Glu34555del)
|
rs759860918
|
|
NM_001267550.2(TTN):c.104040G>C (p.Arg34680Ser)
|
|
|
NM_001267550.2(TTN):c.105418G>A (p.Val35140Ile)
|
|
|
NM_001267550.2(TTN):c.105735A>T (p.Glu35245Asp)
|
rs1444816567
|
|
NM_001267550.2(TTN):c.106217G>C (p.Arg35406Thr)
|
rs371304729
|
|
NM_001267550.2(TTN):c.107290G>T (p.Ala35764Ser)
|
rs879048717
|
|
NM_001267550.2(TTN):c.107377+13T>C
|
|
|
NM_001267550.2(TTN):c.107578_107583del (p.Gln35860_Glu35861del)
|
rs751689670
|
|
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)
|
rs281864929
|
|
NM_001267550.2(TTN):c.10794dup (p.Lys3599Ter)
|
|
|
NM_001267550.2(TTN):c.11000A>T (p.Gln3667Leu)
|
|
|
NM_001267550.2(TTN):c.11008A>C (p.Thr3670Pro)
|
rs794729589
|
|
NM_001267550.2(TTN):c.11183dup (p.Leu3729fs)
|
rs778172350
|
|
NM_001267550.2(TTN):c.1364C>T (p.Thr455Met)
|
rs368121196
|
|
NM_001267550.2(TTN):c.13792G>C (p.Gly4598Arg)
|
|
|
NM_001267550.2(TTN):c.1398+4C>T
|
rs368548209
|
|
NM_001267550.2(TTN):c.14314T>G (p.Cys4772Gly)
|
|
|
NM_001267550.2(TTN):c.14704A>C (p.Asn4902His)
|
|
|
NM_001267550.2(TTN):c.14878T>C (p.Cys4960Arg)
|
rs879004875
|
|
NM_001267550.2(TTN):c.1517T>G (p.Met506Arg)
|
rs1210731040
|
|
NM_001267550.2(TTN):c.15494A>G (p.Lys5165Arg)
|
|
|
NM_001267550.2(TTN):c.15679A>T (p.Ile5227Phe)
|
|
|
NM_001267550.2(TTN):c.15775+1G>A
|
rs1353528319
|
|
NM_001267550.2(TTN):c.16591G>A (p.Val5531Met)
|
rs1301488285
|
|
NM_001267550.2(TTN):c.1681A>G (p.Ile561Val)
|
|
|
NM_001267550.2(TTN):c.16924G>A (p.Glu5642Lys)
|
rs1448901680
|
|
NM_001267550.2(TTN):c.1726A>G (p.Lys576Glu)
|
|
|
NM_001267550.2(TTN):c.17303del (p.Asp5768fs)
|
|
|
NM_001267550.2(TTN):c.17558C>T (p.Thr5853Ile)
|
rs2154308873
|
|
NM_001267550.2(TTN):c.17584G>A (p.Glu5862Lys)
|
|
|
NM_001267550.2(TTN):c.17950A>G (p.Thr5984Ala)
|
|
|
NM_001267550.2(TTN):c.18029-20_18029-19delinsCC
|
rs2080233713
|
|
NM_001267550.2(TTN):c.18208G>T (p.Glu6070Ter)
|
|
|
NM_001267550.2(TTN):c.18442G>A (p.Ala6148Thr)
|
|
|
NM_001267550.2(TTN):c.18868+6T>C
|
rs2154307118
|
|
NM_001267550.2(TTN):c.18869-3C>T
|
|
|
NM_001267550.2(TTN):c.19276G>T (p.Val6426Phe)
|
rs778339438
|
|
NM_001267550.2(TTN):c.19357G>C (p.Gly6453Arg)
|
|
|
NM_001267550.2(TTN):c.19801C>T (p.Pro6601Ser)
|
|
|
NM_001267550.2(TTN):c.20183A>G (p.Asn6728Ser)
|
|
|
NM_001267550.2(TTN):c.2018T>G (p.Leu673Arg)
|
|
|
NM_001267550.2(TTN):c.20837-2A>G
|
|
|
NM_001267550.2(TTN):c.20905T>A (p.Cys6969Ser)
|
rs368762020
|
|
NM_001267550.2(TTN):c.21020T>C (p.Ile7007Thr)
|
|
|
NM_001267550.2(TTN):c.21134C>T (p.Ser7045Phe)
|
|
|
NM_001267550.2(TTN):c.21995T>A (p.Leu7332Gln)
|
|
|
NM_001267550.2(TTN):c.22016C>T (p.Ser7339Leu)
|
|
|
NM_001267550.2(TTN):c.22355G>T (p.Trp7452Leu)
|
|
|
NM_001267550.2(TTN):c.22745_22746del (p.Ser7582fs)
|
rs779549899
|
|
NM_001267550.2(TTN):c.23269A>T (p.Thr7757Ser)
|
|
|
NM_001267550.2(TTN):c.23660-14A>G
|
rs2078064430
|
|
NM_001267550.2(TTN):c.23931T>A (p.His7977Gln)
|
|
|
NM_001267550.2(TTN):c.24227-10C>A
|
|
|
NM_001267550.2(TTN):c.24365A>T (p.Glu8122Val)
|
|
|
NM_001267550.2(TTN):c.24515C>T (p.Thr8172Ile)
|
rs2077852623
|
|
NM_001267550.2(TTN):c.24898G>C (p.Glu8300Gln)
|
rs1300968279
|
|
NM_001267550.2(TTN):c.24950A>T (p.Asn8317Ile)
|
rs1278554973
|
|
NM_001267550.2(TTN):c.25037C>T (p.Ala8346Val)
|
rs747055472
|
|
NM_001267550.2(TTN):c.25310C>T (p.Pro8437Leu)
|
rs1560631696
|
|
NM_001267550.2(TTN):c.25409G>A (p.Gly8470Glu)
|
|
|
NM_001267550.2(TTN):c.25583G>T (p.Cys8528Phe)
|
rs1364963458
|
|
NM_001267550.2(TTN):c.25609G>A (p.Asp8537Asn)
|
|
|
NM_001267550.2(TTN):c.25700C>T (p.Thr8567Ile)
|
rs867794054
|
|
NM_001267550.2(TTN):c.26248G>A (p.Gly8750Ser)
|
|
|
NM_001267550.2(TTN):c.26318A>C (p.Lys8773Thr)
|
rs2154297202
|
|
NM_001267550.2(TTN):c.27169A>G (p.Ser9057Gly)
|
rs1472858886
|
|
NM_001267550.2(TTN):c.2735G>T (p.Arg912Leu)
|
|
|
NM_001267550.2(TTN):c.2744G>A (p.Arg915His)
|
rs376922544
|
|
NM_001267550.2(TTN):c.2788G>T (p.Ala930Ser)
|
rs758604858
|
|
NM_001267550.2(TTN):c.27977G>T (p.Gly9326Val)
|
|
|
NM_001267550.2(TTN):c.28012G>A (p.Gly9338Ser)
|
|
|
NM_001267550.2(TTN):c.29583AGA[2] (p.Glu9864del)
|
rs1366904544
|
|
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg)
|
rs148269839
|
|
NM_001267550.2(TTN):c.30436G>A (p.Val10146Ile)
|
rs1553875094
|
|
NM_001267550.2(TTN):c.30562A>G (p.Ile10188Val)
|
|
|
NM_001267550.2(TTN):c.30929A>T (p.Lys10310Met)
|
|
|
NM_001267550.2(TTN):c.31033T>C (p.Tyr10345His)
|
|
|
NM_001267550.2(TTN):c.31348+1G>A
|
|
|
NM_001267550.2(TTN):c.31429_31430insTTA (p.Pro10477delinsLeuThr)
|
|
|
NM_001267550.2(TTN):c.32087C>T (p.Pro10696Leu)
|
|
|
NM_001267550.2(TTN):c.32219G>A (p.Ser10740Asn)
|
rs2071387213
|
|
NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser)
|
rs55914517
|
|
NM_001267550.2(TTN):c.32515G>T (p.Ala10839Ser)
|
rs727503635
|
|
NM_001267550.2(TTN):c.33055G>T (p.Glu11019Ter)
|
rs1372770028
|
|
NM_001267550.2(TTN):c.33340G>T (p.Val11114Leu)
|
rs1328375389
|
|
NM_001267550.2(TTN):c.33501AGA[4] (p.Glu11172del)
|
rs368327166
|
|
NM_001267550.2(TTN):c.33656C>T (p.Pro11219Leu)
|
rs757268986
|
|
NM_001267550.2(TTN):c.33806T>G (p.Val11269Gly)
|
|
|
NM_001267550.2(TTN):c.34007G>A (p.Arg11336His)
|
|
|
NM_001267550.2(TTN):c.34291+8A>G
|
|
|
NM_001267550.2(TTN):c.34411_34414del (p.Lys11471fs)
|
|
|
NM_001267550.2(TTN):c.34613-10C>A
|
rs536191523
|
|
NM_001267550.2(TTN):c.34709-1G>A
|
rs727503634
|
|
NM_001267550.2(TTN):c.35029G>T (p.Glu11677Ter)
|
|
|
NM_001267550.2(TTN):c.35228-6T>C
|
rs1399428209
|
|
NM_001267550.2(TTN):c.35309-10A>G
|
rs2066755161
|
|
NM_001267550.2(TTN):c.35365C>A (p.Pro11789Thr)
|
|
|
NM_001267550.2(TTN):c.36119-1G>C
|
rs1239720687
|
|
NM_001267550.2(TTN):c.36267_36280+16del
|
rs745871962
|
|
NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp)
|
rs796478043
|
|
NM_001267550.2(TTN):c.38207-10_38381-10del
|
|
|
NM_001267550.2(TTN):c.39282_39284delinsCCA (p.Pro13095His)
|
|
|
NM_001267550.2(TTN):c.39295+1G>C
|
|
|
NM_001267550.2(TTN):c.39314A>C (p.Glu13105Ala)
|
|
|
NM_001267550.2(TTN):c.39374_39376del (p.Pro13125del)
|
rs1292233616
|
|
NM_001267550.2(TTN):c.39709+14C>A
|
rs760314415
|
|
NM_001267550.2(TTN):c.39709+1G>A
|
|
|
NM_001267550.2(TTN):c.39895+7A>G
|
rs1299824475
|
|
NM_001267550.2(TTN):c.41213G>A (p.Gly13738Asp)
|
|
|
NM_001267550.2(TTN):c.4153G>C (p.Ala1385Pro)
|
rs140760859
|
|
NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter)
|
rs794729380
|
|
NM_001267550.2(TTN):c.42121G>A (p.Ala14041Thr)
|
rs2060215943
|
|
NM_001267550.2(TTN):c.4222C>T (p.Arg1408Cys)
|
|
|
NM_001267550.2(TTN):c.42488G>T (p.Cys14163Phe)
|
|
|
NM_001267550.2(TTN):c.42524T>C (p.Phe14175Ser)
|
rs575813993
|
|
NM_001267550.2(TTN):c.42908G>A (p.Cys14303Tyr)
|
|
|
NM_001267550.2(TTN):c.42947-12_42947-11del
|
rs1352151183
|
|
NM_001267550.2(TTN):c.43174G>C (p.Ala14392Pro)
|
|
|
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His)
|
rs72647876
|
|
NM_001267550.2(TTN):c.43439A>G (p.Glu14480Gly)
|
rs1449008181
|
|
NM_001267550.2(TTN):c.43693C>T (p.Gln14565Ter)
|
|
|
NM_001267550.2(TTN):c.43924C>A (p.Leu14642Ile)
|
rs2154220229
|
|
NM_001267550.2(TTN):c.44107A>G (p.Ile14703Val)
|
|
|
NM_001267550.2(TTN):c.44155-10G>A
|
rs1044877599
|
|
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His)
|
rs373298007
|
|
NM_001267550.2(TTN):c.44314G>T (p.Asp14772Tyr)
|
rs1426162588
|
|
NM_001267550.2(TTN):c.44338del (p.Thr14780fs)
|
|
|
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del)
|
rs727505315
|
|
NM_001267550.2(TTN):c.44548+13C>T
|
|
|
NM_001267550.2(TTN):c.44736T>A (p.His14912Gln)
|
rs762830792
|
|
NM_001267550.2(TTN):c.44812G>A (p.Val14938Met)
|
|
|
NM_001267550.2(TTN):c.44837_44845del (p.Arg14946_Leu14948del)
|
rs1436256356
|
|
NM_001267550.2(TTN):c.45082+8T>C
|
|
|
NM_001267550.2(TTN):c.45461G>A (p.Arg15154Lys)
|
|
|
NM_001267550.2(TTN):c.45489T>G (p.Asp15163Glu)
|
|
|
NM_001267550.2(TTN):c.45741A>G (p.Ile15247Met)
|
|
|
NM_001267550.2(TTN):c.45895+17C>T
|
rs1559872244
|
|
NM_001267550.2(TTN):c.47233G>A (p.Glu15745Lys)
|
|
|
NM_001267550.2(TTN):c.48361C>G (p.Gln16121Glu)
|
|
|
NM_001267550.2(TTN):c.48378_48380del (p.Leu16126del)
|
rs561618839
|
|
NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg)
|
rs368527534
|
|
NM_001267550.2(TTN):c.49388C>A (p.Thr16463Asn)
|
rs541307234
|
|
NM_001267550.2(TTN):c.49627A>G (p.Ile16543Val)
|
|
|
NM_001267550.2(TTN):c.50189C>T (p.Ala16730Val)
|
rs763483590
|
|
NM_001267550.2(TTN):c.50249-7T>A
|
|
|
NM_001267550.2(TTN):c.50344C>G (p.Pro16782Ala)
|
|
|
NM_001267550.2(TTN):c.51281A>G (p.Tyr17094Cys)
|
|
|
NM_001267550.2(TTN):c.51589T>C (p.Cys17197Arg)
|
|
|
NM_001267550.2(TTN):c.52349G>A (p.Arg17450Lys)
|
|
|
NM_001267550.2(TTN):c.52406-12dup
|
rs1553688916
|
|
NM_001267550.2(TTN):c.54533G>T (p.Arg18178Leu)
|
rs879023208
|
|
NM_001267550.2(TTN):c.54644G>A (p.Arg18215His)
|
|
|
NM_001267550.2(TTN):c.55339C>G (p.Pro18447Ala)
|
|
|
NM_001267550.2(TTN):c.55361C>T (p.Thr18454Ile)
|
|
|
NM_001267550.2(TTN):c.55517_55519del (p.Asp18506del)
|
rs2053439318
|
|
NM_001267550.2(TTN):c.56051-7_56051-5del
|
rs774966673
|
|
NM_001267550.2(TTN):c.56270G>A (p.Ser18757Asn)
|
|
|
NM_001267550.2(TTN):c.56474G>C (p.Arg18825Thr)
|
|
|
NM_001267550.2(TTN):c.56594A>G (p.Tyr18865Cys)
|
|
|
NM_001267550.2(TTN):c.57664G>A (p.Glu19222Lys)
|
rs2051376296
|
|
NM_001267550.2(TTN):c.57749A>G (p.Gln19250Arg)
|
|
|
NM_001267550.2(TTN):c.57919CCT[1] (p.Pro19308del)
|
rs2050997801
|
|
NM_001267550.2(TTN):c.58037T>C (p.Val19346Ala)
|
rs754793079
|
|
NM_001267550.2(TTN):c.58160C>T (p.Thr19387Met)
|
|
|
NM_001267550.2(TTN):c.58459G>C (p.Val19487Leu)
|
rs2154186728
|
|
NM_001267550.2(TTN):c.58726C>T (p.Arg19576Cys)
|
rs779755661
|
|
NM_001267550.2(TTN):c.58742A>C (p.Asp19581Ala)
|
|
|
NM_001267550.2(TTN):c.59206T>G (p.Ser19736Ala)
|
rs2050540072
|
|
NM_001267550.2(TTN):c.60007C>G (p.Arg20003Gly)
|
rs1039014549
|
|
NM_001267550.2(TTN):c.60121CAA[1] (p.Gln20042del)
|
rs761360903
|
|
NM_001267550.2(TTN):c.60839T>C (p.Val20280Ala)
|
|
|
NM_001267550.2(TTN):c.60896G>A (p.Gly20299Asp)
|
|
|
NM_001267550.2(TTN):c.61234A>C (p.Lys20412Gln)
|
|
|
NM_001267550.2(TTN):c.6172A>G (p.Lys2058Glu)
|
rs786205405
|
|
NM_001267550.2(TTN):c.62272G>A (p.Glu20758Lys)
|
rs794729470
|
|
NM_001267550.2(TTN):c.63009G>C (p.Lys21003Asn)
|
rs794729472
|
|
NM_001267550.2(TTN):c.63272_63298dup (p.Asp21091_Tyr21099dup)
|
rs750904641
|
|
NM_001267550.2(TTN):c.63686C>T (p.Ala21229Val)
|
|
|
NM_001267550.2(TTN):c.63946G>A (p.Val21316Ile)
|
|
|
NM_001267550.2(TTN):c.64619C>T (p.Thr21540Ile)
|
rs1284135964
|
|
NM_001267550.2(TTN):c.64733C>G (p.Ser21578Cys)
|
|
|
NM_001267550.2(TTN):c.64774A>G (p.Ile21592Val)
|
rs727503581
|
|
NM_001267550.2(TTN):c.64889A>T (p.Tyr21630Phe)
|
|
|
NM_001267550.2(TTN):c.65336C>T (p.Ala21779Val)
|
|
|
NM_001267550.2(TTN):c.65528G>A (p.Ser21843Asn)
|
rs2154179160
|
|
NM_001267550.2(TTN):c.66161-12_66161-9del
|
rs758125069
|
|
NM_001267550.2(TTN):c.67057+6T>C
|
|
|
NM_001267550.2(TTN):c.67189G>A (p.Glu22397Lys)
|
|
|
NM_001267550.2(TTN):c.67228A>C (p.Lys22410Gln)
|
|
|
NM_001267550.2(TTN):c.67781A>T (p.Asp22594Val)
|
|
|
NM_001267550.2(TTN):c.68314G>C (p.Gly22772Arg)
|
rs1559480997
|
|
NM_001267550.2(TTN):c.68336A>G (p.His22779Arg)
|
|
|
NM_001267550.2(TTN):c.69716-15T>C
|
|
|
NM_001267550.2(TTN):c.70082G>T (p.Ser23361Ile)
|
rs1433418101
|
|
NM_001267550.2(TTN):c.70343C>A (p.Thr23448Lys)
|
|
|
NM_001267550.2(TTN):c.70700A>C (p.Tyr23567Ser)
|
rs1004548694
|
|
NM_001267550.2(TTN):c.70748C>T (p.Thr23583Ile)
|
rs397517687
|
|
NM_001267550.2(TTN):c.70852G>A (p.Glu23618Lys)
|
|
|
NM_001267550.2(TTN):c.7099G>A (p.Val2367Ile)
|
|
|
NM_001267550.2(TTN):c.71168T>A (p.Val23723Asp)
|
|
|
NM_001267550.2(TTN):c.7166T>A (p.Met2389Lys)
|
|
|
NM_001267550.2(TTN):c.71798C>T (p.Pro23933Leu)
|
|
|
NM_001267550.2(TTN):c.72119T>C (p.Ile24040Thr)
|
|
|
NM_001267550.2(TTN):c.72614T>C (p.Val24205Ala)
|
rs1206638090
|
|
NM_001267550.2(TTN):c.72716T>A (p.Met24239Lys)
|
rs750298083
|
|
NM_001267550.2(TTN):c.73035T>G (p.Asn24345Lys)
|
|
|
NM_001267550.2(TTN):c.73073A>T (p.Tyr24358Phe)
|
|
|
NM_001267550.2(TTN):c.7330+12T>C
|
rs2154344841
|
|
NM_001267550.2(TTN):c.74038A>T (p.Ile24680Phe)
|
|
|
NM_001267550.2(TTN):c.75239G>A (p.Arg25080Gln)
|
|
|
NM_001267550.2(TTN):c.75322C>A (p.Pro25108Thr)
|
rs1445994251
|
|
NM_001267550.2(TTN):c.76024G>C (p.Glu25342Gln)
|
|
|
NM_001267550.2(TTN):c.76289T>C (p.Ile25430Thr)
|
rs2154168088
|
|
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys)
|
rs56372592
|
|
NM_001267550.2(TTN):c.77411T>G (p.Phe25804Cys)
|
|
|
NM_001267550.2(TTN):c.77818GTT[1] (p.Val25941del)
|
rs754571796
|
|
NM_001267550.2(TTN):c.78460A>G (p.Thr26154Ala)
|
rs1286984854
|
|
NM_001267550.2(TTN):c.78742A>C (p.Lys26248Gln)
|
rs1281337813
|
|
NM_001267550.2(TTN):c.79028C>T (p.Thr26343Ile)
|
|
|
NM_001267550.2(TTN):c.7946A>G (p.Lys2649Arg)
|
rs745433704
|
|
NM_001267550.2(TTN):c.8108A>C (p.Lys2703Thr)
|
rs2091436696
|
|
NM_001267550.2(TTN):c.81526C>T (p.Arg27176Cys)
|
rs778385749
|
|
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)
|
rs199726308
|
|
NM_001267550.2(TTN):c.83025A>G (p.Ile27675Met)
|
|
|
NM_001267550.2(TTN):c.83158G>T (p.Ala27720Ser)
|
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
NM_001267550.2(TTN):c.83767A>C (p.Ile27923Leu)
|
|
|
NM_001267550.2(TTN):c.85907C>G (p.Pro28636Arg)
|
|
|
NM_001267550.2(TTN):c.86264A>C (p.Asp28755Ala)
|
rs1702996133
|
|
NM_001267550.2(TTN):c.8660C>A (p.Thr2887Asn)
|
rs752697997
|
|
NM_001267550.2(TTN):c.87997A>G (p.Ile29333Val)
|
|
|
NM_001267550.2(TTN):c.88028G>C (p.Arg29343Pro)
|
|
|
NM_001267550.2(TTN):c.88661T>C (p.Leu29554Pro)
|
|
|
NM_001267550.2(TTN):c.88736T>C (p.Val29579Ala)
|
|
|
NM_001267550.2(TTN):c.88852G>A (p.Glu29618Lys)
|
rs879222602
|
|
NM_001267550.2(TTN):c.89567A>G (p.Asp29856Gly)
|
rs1700105269
|
|
NM_001267550.2(TTN):c.90079G>T (p.Ala30027Ser)
|
|
|
NM_001267550.2(TTN):c.90203A>G (p.Glu30068Gly)
|
|
|
NM_001267550.2(TTN):c.90451C>T (p.Leu30151Phe)
|
rs750520740
|
|
NM_001267550.2(TTN):c.90676_90678del (p.Ser30226del)
|
|
|
NM_001267550.2(TTN):c.91270+5G>A
|
rs2154150668
|
|
NM_001267550.2(TTN):c.91585G>A (p.Gly30529Ser)
|
|
|
NM_001267550.2(TTN):c.91610TTA[1] (p.Ile30538del)
|
rs754953607
|
|
NM_001267550.2(TTN):c.92427C>G (p.Ile30809Met)
|
|
|
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro)
|
rs373366126
|
|
NM_001267550.2(TTN):c.92966A>T (p.Asn30989Ile)
|
|
|
NM_001267550.2(TTN):c.93182G>C (p.Arg31061Pro)
|
rs727504923
|
|
NM_001267550.2(TTN):c.93431G>A (p.Arg31144Gln)
|
|
|
NM_001267550.2(TTN):c.94499C>G (p.Pro31500Arg)
|
|
|
NM_001267550.2(TTN):c.94524T>C (p.Asp31508=)
|
rs727505200
|
|
NM_001267550.2(TTN):c.94633C>A (p.Arg31545Ser)
|
rs202187398
|
|
NM_001267550.2(TTN):c.95108T>A (p.Val31703Asp)
|
|
|
NM_001267550.2(TTN):c.95147C>T (p.Thr31716Ile)
|
|
|
NM_001267550.2(TTN):c.95644C>T (p.Arg31882Trp)
|
|
|
NM_001267550.2(TTN):c.95654C>T (p.Ala31885Val)
|
|
|
NM_001267550.2(TTN):c.9670A>G (p.Arg3224Gly)
|
|
|
NM_001267550.2(TTN):c.96979G>A (p.Val32327Met)
|
rs956461857
|
|
NM_001267550.2(TTN):c.97794T>G (p.Ile32598Met)
|
|
|
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His)
|
rs186405108
|
|
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu)
|
rs727504588
|
|
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)
|
rs775769503
|
|
NM_001270.4(CHD1):c.1733A>C (p.His578Pro)
|
|
|
NM_001270.4(CHD1):c.179G>A (p.Ser60Asn)
|
|
|
NM_001270.4(CHD1):c.3575G>A (p.Gly1192Asp)
|
|
|
NM_001270.4(CHD1):c.4574C>T (p.Pro1525Leu)
|
|
|
NM_001270.4(CHD1):c.662A>T (p.Asp221Val)
|
rs1751666878
|
|
NM_001271.4(CHD2):c.2506-17G>A
|
rs2141839109
|
|
NM_001271.4(CHD2):c.856A>G (p.Ile286Val)
|
rs1457822140
|
|
NM_001271696.3(ABCB7):c.1771A>G (p.Ile591Val)
|
|
|
NM_001271803.2(REEP2):c.752G>C (p.Gly251Ala)
|
|
|
NM_001271938.2(MEGF8):c.1688C>T (p.Ser563Phe)
|
rs2147463786
|
|
NM_001271938.2(MEGF8):c.2451C>G (p.His817Gln)
|
rs1956275631
|
|
NM_001271938.2(MEGF8):c.5870G>T (p.Cys1957Phe)
|
rs772158196
|
|
NM_001271938.2(MEGF8):c.599G>A (p.Arg200His)
|
rs201881006
|
|
NM_001271938.2(MEGF8):c.7014C>G (p.Asn2338Lys)
|
|
|
NM_001271938.2(MEGF8):c.755A>G (p.Asn252Ser)
|
rs2039111303
|
|
NM_001273.5(CHD4):c.2121T>C (p.Asp707=)
|
|
|
NM_001273.5(CHD4):c.3283C>T (p.Arg1095Cys)
|
rs1948400672
|
|
NM_001273.5(CHD4):c.3466-12G>A
|
|
|
NM_001273.5(CHD4):c.4625C>T (p.Thr1542Ile)
|
|
|
NM_001276309.3(NOL3):c.-8-158C>T
|
|
|
NM_001276309.3(NOL3):c.199G>A (p.Gly67Ser)
|
|
|
NM_001276309.3(NOL3):c.475_528del (p.Ala159_Glu176del)
|
|
|
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His)
|
rs397516466
|
|
NM_001276345.2(TNNT2):c.481C>T (p.Arg161Cys)
|
rs45608937
|
|
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile)
|
rs863225119
|
|
NM_001276345.2(TNNT2):c.851+5G>A
|
rs193922620
|
|
NM_001277058.2(ERCC6):c.2881delinsAT (p.Leu961fs)
|
|
|
NM_001277058.2(ERCC6):c.3166G>A (p.Val1056Ile)
|
|
|
NM_001278064.2(GRM1):c.26T>C (p.Phe9Ser)
|
|
|
NM_001278064.2(GRM1):c.3373G>T (p.Glu1125Ter)
|
rs149403267
|
|
NM_001278064.2(GRM1):c.445C>A (p.Pro149Thr)
|
|
|
NM_001278116.2(L1CAM):c.1533C>A (p.Asn511Lys)
|
|
|
NM_001278116.2(L1CAM):c.1613C>T (p.Thr538Met)
|
|
|
NM_001278116.2(L1CAM):c.1811_1816dup (p.Gln605_Leu606insProGln)
|
|
|
NM_001278116.2(L1CAM):c.1864G>A (p.Asp622Asn)
|
|
|
NM_001278116.2(L1CAM):c.198-9C>A
|
rs782753470
|
|
NM_001278116.2(L1CAM):c.2078A>T (p.Asn693Ile)
|
|
|
NM_001278116.2(L1CAM):c.2138C>G (p.Ala713Gly)
|
|
|
NM_001278116.2(L1CAM):c.2750-6C>T
|
|
|
NM_001278116.2(L1CAM):c.292A>G (p.Thr98Ala)
|
rs2148500068
|
|
NM_001278116.2(L1CAM):c.3019C>G (p.Arg1007Gly)
|
rs1557090232
|
|
NM_001278116.2(L1CAM):c.3043T>C (p.Ser1015Pro)
|
|
|
NM_001278116.2(L1CAM):c.718_775delinsACATTGACAG (p.Pro240_Pro259delinsThrLeuThrAla)
|
rs2148498265
|
|
NM_001278116.2(L1CAM):c.991+6G>A
|
|
|
NM_001278512.2(AP3B2):c.3235_3238del (p.Thr1079fs)
|
rs756807665
|
|
NM_001278716.2(FBXL4):c.1252G>C (p.Ala418Pro)
|
rs542852839
|
|
NM_001281503.2(SLITRK1):c.1381C>T (p.Leu461Phe)
|
rs1884779401
|
|
NM_001281503.2(SLITRK1):c.446C>T (p.Ala149Val)
|
|
|
NM_001282531.3(ADNP):c.1248G>C (p.Gln416His)
|
|
|
NM_001282531.3(ADNP):c.3280G>A (p.Gly1094Arg)
|
|
|
NM_001282534.2(KCNK9):c.509C>T (p.Thr170Met)
|
rs1814685669
|
|
NM_001282684.2(KCTD17):c.794C>T (p.Pro265Leu)
|
|
|
NM_001282874.2(SMARCA1):c.2038A>G (p.Lys680Glu)
|
rs1303741633
|
|
NM_001283009.2(RTEL1):c.2652+5G>A
|
rs1555812507
|
|
NM_001283009.2(RTEL1):c.2875C>T (p.His959Tyr)
|
rs1334634497
|
|
NM_001283009.2(RTEL1):c.396-78A>G
|
|
|
NM_001287.6(CLCN7):c.2215G>A (p.Glu739Lys)
|
|
|
NM_001287.6(CLCN7):c.971C>T (p.Thr324Ile)
|
rs2038825233
|
|
NM_001287491.2(TET3):c.4874A>C (p.Glu1625Ala)
|
|
|
NM_001287491.2(TET3):c.5335G>C (p.Val1779Leu)
|
|
|
NM_001288705.3(CSF1R):c.1859-119G>A
|
rs1561912628
|
|
NM_001288705.3(CSF1R):c.2759A>C (p.Glu920Ala)
|
|
|
NM_001291303.3(FAT4):c.12017C>T (p.Thr4006Met)
|
|
|
NM_001291303.3(FAT4):c.4726A>C (p.Ile1576Leu)
|
|
|
NM_001291303.3(FAT4):c.5420G>A (p.Arg1807His)
|
|
|
NM_001291415.2(KDM6A):c.-10C>G
|
|
|
NM_001291415.2(KDM6A):c.2474T>C (p.Leu825Pro)
|
|
|
NM_001291415.2(KDM6A):c.343G>A (p.Ala115Thr)
|
rs2039532932
|
|
NM_001291415.2(KDM6A):c.3518A>G (p.His1173Arg)
|
|
|
NM_001291415.2(KDM6A):c.384+13T>A
|
|
|
NM_001292034.3(TAB2):c.1174A>G (p.Asn392Asp)
|
|
|
NM_001297.5(CNGB1):c.1187G>A (p.Arg396Gln)
|
|
|
NM_001297.5(CNGB1):c.1801+5G>A
|
|
|
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys)
|
rs1286857064
|
|
NM_001298.3(CNGA3):c.1307G>A (p.Arg436Gln)
|
|
|
NM_001303052.2(MYT1L):c.1121G>A (p.Arg374Lys)
|
|
|
NM_001303052.2(MYT1L):c.2944G>T (p.Ala982Ser)
|
|
|
NM_001303052.2(MYT1L):c.713A>G (p.Asp238Gly)
|
|
|
NM_001303256.3(MORC2):c.1078C>G (p.Leu360Val)
|
|
|
NM_001303256.3(MORC2):c.1934C>T (p.Pro645Leu)
|
|
|
NM_001303256.3(MORC2):c.19A>G (p.Ser7Gly)
|
|
|
NM_001303256.3(MORC2):c.2023C>T (p.Arg675Ter)
|
|
|
NM_001303256.3(MORC2):c.2381-5G>A
|
|
|
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)
|
rs1064795559
|
|
NM_001308093.3(GATA4):c.1318A>T (p.Ile440Leu)
|
rs772619099
|
|
NM_001312909.2(FAM111A):c.1019dup (p.Asn340fs)
|
rs1861846592
|
|
NM_001312909.2(FAM111A):c.1477C>T (p.Arg493Ter)
|
rs761191576
|
|
NM_001318510.2(ACSL4):c.-12-53C>G
|
|
|
NM_001318510.2(ACSL4):c.1070C>A (p.Thr357Asn)
|
|
|
NM_001318510.2(ACSL4):c.1586G>A (p.Arg529His)
|
rs1569420470
|
|
NM_001318510.2(ACSL4):c.73G>A (p.Asp25Asn)
|
|
|
NM_001318852.2(MAPK8IP3):c.1816A>G (p.Thr606Ala)
|
rs1235244843
|
|
NM_001318852.2(MAPK8IP3):c.2261C>T (p.Thr754Met)
|
|
|
NM_001318852.2(MAPK8IP3):c.2820-7C>T
|
|
|
NM_001318852.2(MAPK8IP3):c.3077A>T (p.His1026Leu)
|
|
|
NM_001318852.2(MAPK8IP3):c.3623A>G (p.Tyr1208Cys)
|
rs2042395600
|
|
NM_001318852.2(MAPK8IP3):c.482A>T (p.Tyr161Phe)
|
rs2141731604
|
|
NM_001320.7(CSNK2B):c.558-11C>T
|
|
|
NM_001321075.3(DLG4):c.480G>T (p.Glu160Asp)
|
|
|
NM_001321075.3(DLG4):c.719A>G (p.Tyr240Cys)
|
|
|
NM_001321075.3(DLG4):c.851C>T (p.Thr284Ile)
|
|
|
NM_001323289.2(CDKL5):c.2153-3C>T
|
|
|
NM_001323289.2(CDKL5):c.436A>G (p.Asn146Asp)
|
rs2147144038
|
|
NM_001330.5(CTF1):c.*14G>A
|
rs370908045
|
|
NM_001330078.2(NRXN1):c.*18G>A
|
|
|
NM_001330078.2(NRXN1):c.2044A>G (p.Ser682Gly)
|
rs2105259007
|
|
NM_001330078.2(NRXN1):c.4173_4188delinsGTGTCCCTAA (p.Asp1391_Asp1396delinsGluCysProTer)
|
rs1553400438
|
|
NM_001330111.2(NAA38):c.-167+106_-167+107insT
|
rs2151405562
|
|
NM_001330260.2(SCN8A):c.1850A>G (p.Tyr617Cys)
|
rs1308021407
|
|
NM_001330260.2(SCN8A):c.1883G>A (p.Arg628His)
|
|
|
NM_001330260.2(SCN8A):c.4524+20T>G
|
|
|
NM_001330260.2(SCN8A):c.5306T>G (p.Phe1769Cys)
|
|
|
NM_001330288.2(SMARCC2):c.3129G>C (p.Gln1043His)
|
|
|
NM_001330288.2(SMARCC2):c.803G>A (p.Arg268His)
|
|
|
NM_001330311.2(DVL1):c.1112C>G (p.Thr371Arg)
|
|
|
NM_001330311.2(DVL1):c.227G>A (p.Arg76His)
|
|
|
NM_001330360.2(POLA1):c.1054T>G (p.Leu352Val)
|
|
|
NM_001330360.2(POLA1):c.2242T>G (p.Leu748Val)
|
|
|
NM_001330360.2(POLA1):c.3289A>G (p.Thr1097Ala)
|
rs2148498834
|
|
NM_001330360.2(POLA1):c.383A>G (p.Asn128Ser)
|
|
|
NM_001330360.2(POLA1):c.410C>T (p.Pro137Leu)
|
|
|
NM_001330574.2(ZNF711):c.119A>G (p.His40Arg)
|
|
|
NM_001330574.2(ZNF711):c.1465G>A (p.Asp489Asn)
|
rs1462160566
|
|
NM_001330574.2(ZNF711):c.1882G>A (p.Asp628Asn)
|
rs1426575922
|
|
NM_001330700.2(TOP2B):c.1543C>T (p.Arg515Trp)
|
rs2125377756
|
|
NM_001330700.2(TOP2B):c.1895dup (p.Tyr633fs)
|
|
|
NM_001330700.2(TOP2B):c.3308A>G (p.Tyr1103Cys)
|
rs1702570767
|
|
NM_001330700.2(TOP2B):c.3907C>G (p.Pro1303Ala)
|
|
|
NM_001346754.2(PIGW):c.1050_1061del (p.Phe351_Leu354del)
|
rs2074169001
|
|
NM_001346754.2(PIGW):c.499A>G (p.Met167Val)
|
rs200024253
|
|
NM_001346754.2(PIGW):c.617_620del (p.Val206fs)
|
rs753385776
|
|
NM_001347721.2(DYRK1A):c.10+3G>C
|
rs2050442348
|
|
NM_001347721.2(DYRK1A):c.1001A>G (p.Asp334Gly)
|
rs1601280230
|
|
NM_001347721.2(DYRK1A):c.1714A>C (p.Thr572Pro)
|
rs2053762752
|
|
NM_001347721.2(DYRK1A):c.2220dup (p.Met741fs)
|
rs2053783768
|
|
NM_001347721.2(DYRK1A):c.638-8_638-3del
|
rs2053033529
|
|
NM_001348323.3(TRIP12):c.1019A>G (p.Lys340Arg)
|
|
|
NM_001348323.3(TRIP12):c.1958C>A (p.Pro653Gln)
|
|
|
NM_001348323.3(TRIP12):c.1986+7T>C
|
|
|
NM_001348323.3(TRIP12):c.2486G>A (p.Arg829Gln)
|
|
|
NM_001348323.3(TRIP12):c.4215+4A>G
|
|
|
NM_001348323.3(TRIP12):c.449A>G (p.His150Arg)
|
|
|
NM_001348323.3(TRIP12):c.5365-14A>C
|
|
|
NM_001348323.3(TRIP12):c.6008-6A>G
|
|
|
NM_001348323.3(TRIP12):c.6134G>C (p.Ser2045Thr)
|
|
|
NM_001348716.2(KDM6B):c.1820C>T (p.Pro607Leu)
|
|
|
NM_001348716.2(KDM6B):c.2516C>T (p.Pro839Leu)
|
|
|
NM_001348716.2(KDM6B):c.3441-9del
|
|
|
NM_001348768.2(HECW2):c.1097T>A (p.Val366Glu)
|
|
|
NM_001348768.2(HECW2):c.1568C>T (p.Ala523Val)
|
|
|
NM_001348768.2(HECW2):c.1618T>C (p.Ser540Pro)
|
|
|
NM_001348768.2(HECW2):c.2009A>C (p.Glu670Ala)
|
|
|
NM_001348768.2(HECW2):c.244A>G (p.Ile82Val)
|
|
|
NM_001348768.2(HECW2):c.3152G>A (p.Arg1051Gln)
|
|
|
NM_001348768.2(HECW2):c.3752T>C (p.Val1251Ala)
|
|
|
NM_001348800.3(ZBTB20):c.616G>A (p.Asp206Asn)
|
rs779190582
|
|
NM_001349253.2(SCN11A):c.1442G>C (p.Gly481Ala)
|
|
|
NM_001349253.2(SCN11A):c.2203C>T (p.Leu735Phe)
|
|
|
NM_001349253.2(SCN11A):c.5201A>G (p.Glu1734Gly)
|
|
|
NM_001349338.3(FOXP1):c.1277C>T (p.Thr426Ile)
|
|
|
NM_001349338.3(FOXP1):c.527C>A (p.Thr176Asn)
|
|
|
NM_001349798.2(FBXW7):c.1002G>T (p.Leu334Phe)
|
|
|
NM_001349798.2(FBXW7):c.31A>G (p.Lys11Glu)
|
|
|
NM_001351132.2(PEX5):c.127_128delinsTT (p.Gly43Leu)
|
|
|
NM_001351132.2(PEX5):c.1645C>T (p.Leu549Phe)
|
|
|
NM_001351132.2(PEX5):c.64G>A (p.Gly22Arg)
|
rs2135877599
|
|
NM_001351169.2(NT5C2):c.389+349G>A
|
|
|
NM_001352027.3(PHF21A):c.205C>T (p.Pro69Ser)
|
rs2136287756
|
|
NM_001352027.3(PHF21A):c.643A>G (p.Lys215Glu)
|
rs2136046833
|
|
NM_001352514.2(HLCS):c.2151C>G (p.Asn717Lys)
|
|
|
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del)
|
rs1555882090
|
|
NM_001352514.2(HLCS):c.2450+4A>G
|
|
|
NM_001352514.2(HLCS):c.2600del (p.Leu867fs)
|
rs761447836
|
|
NM_001353108.3(CEP63):c.530T>C (p.Leu177Pro)
|
|
|
NM_001353214.3(DYM):c.1694C>T (p.Ser565Leu)
|
|
|
NM_001353345.2(SETD1B):c.1460C>T (p.Ser487Leu)
|
|
|
NM_001353345.2(SETD1B):c.1981_1986del (p.Val661_Val662del)
|
rs2137560114
|
|
NM_001353345.2(SETD1B):c.2755_2772dup (p.Pro924_Lys925insGluAspArgProLysPro)
|
|
|
NM_001353345.2(SETD1B):c.5392C>T (p.Arg1798Cys)
|
rs2137589027
|
|
NM_001354712.2(THRB):c.1013G>A (p.Arg338Gln)
|
|
|
NM_001354712.2(THRB):c.1354C>T (p.Pro452Ser)
|
|
|
NM_001354712.2(THRB):c.1357_1358delinsGA (p.Pro453Asp)
|
rs2148780504
|
|
NM_001354712.2(THRB):c.23-19G>A
|
|
|
NM_001354712.2(THRB):c.625G>C (p.Gly209Arg)
|
|
|
NM_001354712.2(THRB):c.929T>C (p.Met310Thr)
|
rs121918699
|
|
NM_001354712.2(THRB):c.958C>A (p.Arg320Ser)
|
rs121918696
|
|
NM_001354712.2(THRB):c.980C>T (p.Thr327Ile)
|
|
|
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg)
|
rs28999969
|
|
NM_001358530.2(MOCS1):c.1102+6T>C
|
|
|
NM_001358530.2(MOCS1):c.124-118G>T
|
|
|
NM_001358530.2(MOCS1):c.124-123A>G
|
|
|
NM_001358530.2(MOCS1):c.1858_1859dup (p.Lys621fs)
|
|
|
NM_001360.3(DHCR7):c.1003C>T (p.Pro335Ser)
|
rs1949273213
|
|
NM_001360.3(DHCR7):c.1088G>T (p.Arg363Leu)
|
rs200539324
|
|
NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr)
|
rs544442568
|
|
NM_001360.3(DHCR7):c.1193del (p.Gly398fs)
|
rs1949268628
|
|
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln)
|
rs80338864
|
|
NM_001360.3(DHCR7):c.464A>G (p.His155Arg)
|
|
|
NM_001360.3(DHCR7):c.532A>T (p.Ile178Phe)
|
rs1223603615
|
|
NM_001360.3(DHCR7):c.739G>A (p.Ala247Thr)
|
rs767031102
|
|
NM_001360.3(DHCR7):c.742T>C (p.Trp248Arg)
|
rs886044494
|
|
NM_001360.3(DHCR7):c.818T>G (p.Val273Gly)
|
|
|
NM_001360.3(DHCR7):c.842T>C (p.Val281Ala)
|
|
|
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys)
|
rs367585401
|
|
NM_001360.3(DHCR7):c.962A>T (p.Gln321Leu)
|
|
|
NM_001360016.2(G6PD):c.112G>A (p.Gly38Ser)
|
|
|
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
|
|
|
NM_001360016.2(G6PD):c.739G>A (p.Gly247Arg)
|
|
|
NM_001360016.2(G6PD):c.988C>T (p.Arg330Cys)
|
|
|
NM_001363.5(DKC1):c.264-9C>T
|
rs1300109572
|
|
NM_001363711.2(DUOX2):c.1587G>T (p.Lys529Asn)
|
|
|
NM_001363711.2(DUOX2):c.1718A>G (p.Gln573Arg)
|
|
|
NM_001363711.2(DUOX2):c.199G>A (p.Asp67Asn)
|
rs1255757517
|
|
NM_001363711.2(DUOX2):c.214G>T (p.Ala72Ser)
|
|
|
NM_001363711.2(DUOX2):c.2803C>T (p.Leu935Phe)
|
|
|
NM_001363711.2(DUOX2):c.3395T>A (p.Met1132Lys)
|
|
|
NM_001363711.2(DUOX2):c.355G>C (p.Val119Leu)
|
rs138970496
|
|
NM_001363711.2(DUOX2):c.3721A>T (p.Ile1241Phe)
|
|
|
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly)
|
rs143471358
|
|
NM_001363711.2(DUOX2):c.3940G>A (p.Glu1314Lys)
|
|
|
NM_001363711.2(DUOX2):c.838G>A (p.Glu280Lys)
|
|
|
NM_001365088.1(SLC12A6):c.1118+5G>A
|
|
|
NM_001365088.1(SLC12A6):c.1A>G (p.Met1Val)
|
rs1295560007
|
|
NM_001365088.1(SLC12A6):c.2110A>G (p.Ile704Val)
|
rs748542923
|
|
NM_001365088.1(SLC12A6):c.2T>C (p.Met1Thr)
|
|
|
NM_001365276.2(TNXB):c.12155G>A (p.Arg4052His)
|
|
|
NM_001365276.2(TNXB):c.7783G>C (p.Glu2595Gln)
|
rs374803743
|
|
NM_001365276.2(TNXB):c.9473_9474delinsTG (p.Thr3158Met)
|
|
|
NM_001365308.1(BMPER):c.322T>C (p.Cys108Arg)
|
|
|
NM_001365536.1(SCN9A):c.1415G>T (p.Ser472Ile)
|
|
|
NM_001365536.1(SCN9A):c.4184G>A (p.Gly1395Asp)
|
rs764682998
|
|
NM_001365536.1(SCN9A):c.4207G>T (p.Ala1403Ser)
|
|
|
NM_001365536.1(SCN9A):c.4932_4935del (p.Phe1645fs)
|
|
|
NM_001365536.1(SCN9A):c.5444T>C (p.Ile1815Thr)
|
|
|
NM_001365951.3(KIF1B):c.1108C>T (p.Arg370Cys)
|
|
|
NM_001365951.3(KIF1B):c.2980G>T (p.Ala994Ser)
|
|
|
NM_001365999.1(SZT2):c.7087G>A (p.Gly2363Arg)
|
rs1557587748
|
|
NM_001365999.1(SZT2):c.7512-17dup
|
|
|
NM_001365999.1(SZT2):c.8074A>C (p.Ile2692Leu)
|
|
|
NM_001365999.1(SZT2):c.9636C>G (p.Phe3212Leu)
|
rs1252399076
|
|
NM_001365999.1(SZT2):c.997C>G (p.Pro333Ala)
|
|
|
NM_001366110.1(PAX4):c.*196C>T
|
|
|
NM_001366145.2(TRPM3):c.223G>A (p.Val75Ile)
|
|
|
NM_001366145.2(TRPM3):c.3991G>T (p.Gly1331Cys)
|
|
|
NM_001366521.1(ATP2B1):c.1237A>G (p.Ile413Val)
|
|
|
NM_001366521.1(ATP2B1):c.3055G>C (p.Val1019Leu)
|
|
|
NM_001366722.1(GRIP1):c.1785A>C (p.Lys595Asn)
|
rs1565721288
|
|
NM_001366722.1(GRIP1):c.1A>G (p.Met1Val)
|
|
|
NM_001366722.1(GRIP1):c.2464+3A>G
|
|
|
NM_001367498.1(CNTNAP5):c.733+2T>C
|
rs1692484114
|
|
NM_001367561.1(DOCK7):c.3471+12G>A
|
|
|
NM_001367561.1(DOCK7):c.4283-5G>T
|
|
|
NM_001367624.2(ZNF469):c.11536dup (p.Arg3846fs)
|
rs1192814702
|
|
NM_001367624.2(ZNF469):c.11671C>G (p.Leu3891Val)
|
rs1419259989
|
|
NM_001367624.2(ZNF469):c.1534G>A (p.Glu512Lys)
|
rs953454298
|
|
NM_001367624.2(ZNF469):c.2059G>A (p.Glu687Lys)
|
|
|
NM_001367624.2(ZNF469):c.2130_2132delinsCCG (p.Pro711Arg)
|
|
|
NM_001367624.2(ZNF469):c.2477C>G (p.Pro826Arg)
|
rs772056680
|
|
NM_001367624.2(ZNF469):c.2898GTCGGG[1] (p.967SG[1])
|
rs281865147
|
|
NM_001367624.2(ZNF469):c.4516G>A (p.Glu1506Lys)
|
rs2142306246
|
|
NM_001367624.2(ZNF469):c.8035C>T (p.Leu2679Phe)
|
rs1304525923
|
|
NM_001367721.1(CASK):c.2155+4_2155+6delinsA
|
rs752382791
|
|
NM_001367873.1(SOX6):c.1217A>G (p.Glu406Gly)
|
|
|
NM_001367873.1(SOX6):c.1408G>A (p.Gly470Arg)
|
|
|
NM_001367873.1(SOX6):c.1633C>T (p.Arg545Cys)
|
|
|
NM_001367873.1(SOX6):c.95G>T (p.Gly32Val)
|
|
|
NM_001368397.1(FRMPD4):c.182T>A (p.Phe61Tyr)
|
rs2059162987
|
|
NM_001368397.1(FRMPD4):c.3046A>T (p.Met1016Leu)
|
rs2042125862
|
|
NM_001368397.1(FRMPD4):c.3634A>G (p.Ser1212Gly)
|
|
|
NM_001368397.1(FRMPD4):c.3899C>G (p.Thr1300Ser)
|
|
|
NM_001368397.1(FRMPD4):c.933+3A>T
|
|
|
NM_001368809.2(AMPD2):c.1502C>T (p.Ala501Val)
|
|
|
NM_001369.3(DNAH5):c.11308A>G (p.Ser3770Gly)
|
rs1747677646
|
|
NM_001369.3(DNAH5):c.3248A>T (p.Glu1083Val)
|
|
|
NM_001369268.1(ACAN):c.194C>A (p.Ser65Tyr)
|
|
|
NM_001369268.1(ACAN):c.2842G>C (p.Ala948Pro)
|
|
|
NM_001369268.1(ACAN):c.324C>G (p.Asn108Lys)
|
|
|
NM_001369268.1(ACAN):c.413G>C (p.Gly138Ala)
|
|
|
NM_001369268.1(ACAN):c.4281T>G (p.Asp1427Glu)
|
|
|
NM_001369268.1(ACAN):c.5317C>A (p.Leu1773Ile)
|
|
|
NM_001369369.1(FOXN1):c.505G>A (p.Glu169Lys)
|
|
|
NM_001370100.5(ZMYND11):c.1038_1039delinsGG (p.Cys347Gly)
|
|
|
NM_001370259.2(MEN1):c.119_124del (p.Val40_Leu41del)
|
rs386134248
|
|
NM_001370259.2(MEN1):c.1295T>C (p.Leu432Pro)
|
rs2136100876
|
|
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His)
|
rs1592636161
|
|
NM_001370259.2(MEN1):c.153C>A (p.Asn51Lys)
|
|
|
NM_001370259.2(MEN1):c.227C>T (p.Thr76Ile)
|
|
|
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
|
|
|
NM_001370259.2(MEN1):c.417C>A (p.His139Gln)
|
rs386134254
|
|
NM_001370259.2(MEN1):c.638_639delinsAA (p.Ala213Glu)
|
rs1114167518
|
|
NM_001370259.2(MEN1):c.644_652delinsGCCCCT (p.Val215_Arg218delinsGlyProTrp)
|
rs386134257
|
|
NM_001370259.2(MEN1):c.654+3A>T
|
rs1064793168
|
|
NM_001370259.2(MEN1):c.686G>A (p.Arg229His)
|
rs878855197
|
|
NM_001370259.2(MEN1):c.689G>T (p.Cys230Phe)
|
|
|
NM_001370259.2(MEN1):c.776T>C (p.Leu259Pro)
|
rs2136139920
|
|
NM_001370259.2(MEN1):c.830C>A (p.Pro277His)
|
rs1060499973
|
|
NM_001370259.2(MEN1):c.979T>G (p.Tyr327Asp)
|
rs1259383083
|
|
NM_001370298.3(FGD4):c.166+1G>A
|
|
|
NM_001370298.3(FGD4):c.1839G>A (p.Met613Ile)
|
|
|
NM_001370466.1(NOD2):c.1690G>A (p.Val564Ile)
|
|
|
NM_001370658.1(BTD):c.*159G>A
|
rs530872564
|
|
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val)
|
rs1553654107
|
|
NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del)
|
rs397514346
|
|
NM_001370658.1(BTD):c.239C>T (p.Ala80Val)
|
rs1553652171
|
|
NM_001370658.1(BTD):c.827T>G (p.Val276Gly)
|
rs397514391
|
|
NM_001370658.1(BTD):c.862A>C (p.Met288Leu)
|
rs757604137
|
|
NM_001370658.1(BTD):c.881A>G (p.His294Arg)
|
rs1553653888
|
|
NM_001371333.1(DIABLO):c.-1A>G
|
|
|
NM_001371596.2(MFSD8):c.1408A>G (p.Met470Val)
|
rs764549054
|
|
NM_001371596.2(MFSD8):c.154G>A (p.Gly52Arg)
|
|
|
NM_001371623.1(TCOF1):c.1729C>G (p.Gln577Glu)
|
|
|
NM_001371623.1(TCOF1):c.3306_3314del (p.Ser1102_Gly1105delinsArg)
|
|
|
NM_001371623.1(TCOF1):c.3518-2A>G
|
|
|
NM_001371727.1(GABRB2):c.1151C>T (p.Pro384Leu)
|
|
|
NM_001371727.1(GABRB2):c.1265T>C (p.Met422Thr)
|
|
|
NM_001371904.1(APOA5):c.*17G>A
|
|
|
NM_001371904.1(APOA5):c.274A>G (p.Met92Val)
|
|
|
NM_001371904.1(APOA5):c.949C>G (p.Pro317Ala)
|
|
|
NM_001371928.1(AHDC1):c.1312C>A (p.Pro438Thr)
|
|
|
NM_001371928.1(AHDC1):c.2479G>A (p.Glu827Lys)
|
|
|
NM_001371928.1(AHDC1):c.2713G>A (p.Ala905Thr)
|
|
|
NM_001371928.1(AHDC1):c.3470C>T (p.Thr1157Met)
|
|
|
NM_001371928.1(AHDC1):c.4142C>T (p.Pro1381Leu)
|
|
|
NM_001371986.1(UNC80):c.5539G>T (p.Val1847Phe)
|
|
|
NM_001372044.2(SHANK3):c.3443C>T (p.Pro1148Leu)
|
|
|
NM_001372044.2(SHANK3):c.616G>T (p.Val206Leu)
|
|
|
NM_001372066.1(TFAP2A):c.248G>A (p.Ser83Asn)
|
|
|
NM_001372066.1(TFAP2A):c.752T>G (p.Leu251Arg)
|
|
|
NM_001374353.1(GLI2):c.1010C>T (p.Thr337Met)
|
|
|
NM_001374353.1(GLI2):c.1298C>T (p.Thr433Ile)
|
|
|
NM_001374353.1(GLI2):c.1394A>C (p.Lys465Thr)
|
|
|
NM_001374353.1(GLI2):c.1518C>A (p.His506Gln)
|
|
|
NM_001374353.1(GLI2):c.1672T>C (p.Tyr558His)
|
rs763503195
|
|
NM_001374353.1(GLI2):c.1676C>T (p.Thr559Ile)
|
|
|
NM_001374353.1(GLI2):c.178G>C (p.Ala60Pro)
|
|
|
NM_001374353.1(GLI2):c.1861G>A (p.Glu621Lys)
|
|
|
NM_001374353.1(GLI2):c.2118G>A (p.Met706Ile)
|
|
|
NM_001374353.1(GLI2):c.2939C>T (p.Pro980Leu)
|
|
|
NM_001374353.1(GLI2):c.3190G>T (p.Gly1064Cys)
|
|
|
NM_001374353.1(GLI2):c.3367A>G (p.Asn1123Asp)
|
|
|
NM_001374353.1(GLI2):c.4027G>C (p.Gly1343Arg)
|
|
|
NM_001374385.1(ATP8B1):c.1046T>C (p.Ile349Thr)
|
|
|
NM_001374385.1(ATP8B1):c.1151G>A (p.Arg384His)
|
|
|
NM_001374385.1(ATP8B1):c.1240_1244delinsTG (p.Gly414_Gln415delinsTrp)
|
rs2122850900
|
|
NM_001374385.1(ATP8B1):c.1928T>C (p.Leu643Pro)
|
|
|
NM_001374385.1(ATP8B1):c.2006_2007delinsCA (p.Trp669Ser)
|
rs2122711462
|
|
NM_001374385.1(ATP8B1):c.2996T>G (p.Leu999Arg)
|
rs2122577738
|
|
NM_001374385.1(ATP8B1):c.940+3A>G
|
|
|
NM_001374623.1(PNPLA1):c.434T>C (p.Ile145Thr)
|
|
|
NM_001374623.1(PNPLA1):c.527C>T (p.Thr176Met)
|
|
|
NM_001374675.1(HSF4):c.156C>A (p.Ser52Arg)
|
|
|
NM_001374736.1(DST):c.4009A>G (p.Ile1337Val)
|
|
|
NM_001374736.1(DST):c.503C>T (p.Ser168Phe)
|
|
|
NM_001374828.1(ARID1B):c.1286C>T (p.Ala429Val)
|
|
|
NM_001374828.1(ARID1B):c.1492G>T (p.Ala498Ser)
|
|
|
NM_001374828.1(ARID1B):c.1663G>A (p.Gly555Ser)
|
|
|
NM_001374828.1(ARID1B):c.2357C>T (p.Ala786Val)
|
|
|
NM_001374828.1(ARID1B):c.6507G>C (p.Leu2169Phe)
|
|
|
NM_001374828.1(ARID1B):c.988C>A (p.Arg330Ser)
|
rs2114981971
|
|
NM_001375380.1(EBF3):c.*10T>C
|
rs2133928026
|
|
NM_001375380.1(EBF3):c.373G>A (p.Asp125Asn)
|
rs2134649012
|
|
NM_001375380.1(EBF3):c.437A>G (p.Lys146Arg)
|
|
|
NM_001375405.1(CEP120):c.1469T>C (p.Met490Thr)
|
|
|
NM_001375405.1(CEP120):c.321+14G>A
|
|
|
NM_001375524.1(TRRAP):c.10667_10668del (p.Glu3556fs)
|
|
|
NM_001375524.1(TRRAP):c.3407C>T (p.Pro1136Leu)
|
|
|
NM_001375524.1(TRRAP):c.4900G>C (p.Gly1634Arg)
|
|
|
NM_001375524.1(TRRAP):c.619A>G (p.Ser207Gly)
|
|
|
NM_001375524.1(TRRAP):c.8702G>C (p.Cys2901Ser)
|
|
|
NM_001376.5(DYNC1H1):c.1151T>C (p.Ile384Thr)
|
|
|
NM_001376.5(DYNC1H1):c.13308G>T (p.Gln4436His)
|
|
|
NM_001376.5(DYNC1H1):c.223C>T (p.His75Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.4140T>G (p.Tyr1380Ter)
|
rs1567006190
|
|
NM_001376.5(DYNC1H1):c.4250T>C (p.Met1417Thr)
|
|
|
NM_001376.5(DYNC1H1):c.4289C>A (p.Thr1430Asn)
|
rs1171366952
|
|
NM_001376.5(DYNC1H1):c.6406-4G>C
|
rs374602014
|
|
NM_001376.5(DYNC1H1):c.7072C>T (p.Arg2358Cys)
|
rs879254019
|
|
NM_001376.5(DYNC1H1):c.8209_8210insT (p.Asp2737fs)
|
|
|
NM_001376571.1(MADD):c.640A>G (p.Ile214Val)
|
|
|
NM_001377.3(DYNC2H1):c.10695+20del
|
|
|
NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser)
|
rs769053227
|
|
NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly)
|
rs864622357
|
|
NM_001377.3(DYNC2H1):c.4268G>A (p.Arg1423His)
|
|
|
NM_001377.3(DYNC2H1):c.6206T>C (p.Val2069Ala)
|
|
|
NM_001377.3(DYNC2H1):c.7844T>C (p.Leu2615Pro)
|
|
|
NM_001377.3(DYNC2H1):c.8190G>T (p.Leu2730Phe)
|
rs770800903
|
|
NM_001377.3(DYNC2H1):c.8354C>A (p.Ala2785Glu)
|
|
|
NM_001377.3(DYNC2H1):c.970C>T (p.Leu324Phe)
|
rs1858493502
|
|
NM_001377265.1(MAPT):c.133+16T>C
|
|
|
NM_001377304.1(GFI1B):c.548G>A (p.Arg183Gln)
|
|
|
NM_001377405.1(ATXN7):c.143A>G (p.Gln48Arg)
|
|
|
NM_001378030.1(CCDC78):c.492+14C>T
|
|
|
NM_001378120.1(MBD5):c.1504C>T (p.Pro502Ser)
|
|
|
NM_001378120.1(MBD5):c.853G>A (p.Val285Ile)
|
|
|
NM_001378183.1(PIEZO2):c.1373C>G (p.Ser458Cys)
|
|
|
NM_001378183.1(PIEZO2):c.2743G>A (p.Gly915Arg)
|
rs750411760
|
|
NM_001378183.1(PIEZO2):c.3249G>C (p.Arg1083Ser)
|
|
|
NM_001378183.1(PIEZO2):c.6775A>G (p.Met2259Val)
|
|
|
NM_001378183.1(PIEZO2):c.8216A>T (p.Tyr2739Phe)
|
|
|
NM_001378418.1(TCF20):c.118A>G (p.Asn40Asp)
|
|
|
NM_001378418.1(TCF20):c.1655C>T (p.Ala552Val)
|
|
|
NM_001378418.1(TCF20):c.1783G>A (p.Gly595Arg)
|
|
|
NM_001378418.1(TCF20):c.2120A>G (p.Tyr707Cys)
|
|
|
NM_001378418.1(TCF20):c.2305T>C (p.Ser769Pro)
|
rs2147212306
|
|
NM_001378418.1(TCF20):c.317C>T (p.Pro106Leu)
|
|
|
NM_001378418.1(TCF20):c.3399_3401dup (p.Arg1133_Ser1134insArg)
|
|
|
NM_001378418.1(TCF20):c.3521G>T (p.Gly1174Val)
|
|
|
NM_001378418.1(TCF20):c.4387G>A (p.Ala1463Thr)
|
|
|
NM_001378418.1(TCF20):c.5666A>G (p.His1889Arg)
|
rs2147094662
|
|
NM_001378418.1(TCF20):c.5750-14C>A
|
|
|
NM_001378418.1(TCF20):c.5753G>C (p.Cys1918Ser)
|
|
|
NM_001378418.1(TCF20):c.7T>C (p.Ser3Pro)
|
|
|
NM_001378452.1(ITPR1):c.5980-6T>C
|
|
|
NM_001378452.1(ITPR1):c.6337G>A (p.Asp2113Asn)
|
|
|
NM_001378452.1(ITPR1):c.8145A>C (p.Lys2715Asn)
|
|
|
NM_001378452.1(ITPR1):c.829A>G (p.Ser277Gly)
|
rs1559603629
|
|
NM_001378454.1(ALMS1):c.10051G>C (p.Glu3351Gln)
|
|
|
NM_001378454.1(ALMS1):c.10214-12dup
|
rs543855806
|
|
NM_001378454.1(ALMS1):c.10577T>G (p.Met3526Arg)
|
|
|
NM_001378454.1(ALMS1):c.10827G>C (p.Gln3609His)
|
rs2104105279
|
|
NM_001378454.1(ALMS1):c.10928C>G (p.Ser3643Cys)
|
|
|
NM_001378454.1(ALMS1):c.11316G>T (p.Glu3772Asp)
|
rs1019748558
|
|
NM_001378454.1(ALMS1):c.11873-11G>T
|
rs571456553
|
|
NM_001378454.1(ALMS1):c.12109C>G (p.Leu4037Val)
|
rs1675685897
|
|
NM_001378454.1(ALMS1):c.12285G>T (p.Pro4095=)
|
rs776912137
|
|
NM_001378454.1(ALMS1):c.12298+7C>G
|
rs1252100215
|
|
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs)
|
rs761223068
|
|
NM_001378454.1(ALMS1):c.12411_12415del (p.Arg4138fs)
|
rs2104216255
|
|
NM_001378454.1(ALMS1):c.12448C>T (p.Gln4150Ter)
|
rs2104216417
|
|
NM_001378454.1(ALMS1):c.12475C>T (p.Gln4159Ter)
|
|
|
NM_001378454.1(ALMS1):c.1399A>T (p.Thr467Ser)
|
|
|
NM_001378454.1(ALMS1):c.2008T>A (p.Ser670Thr)
|
|
|
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=)
|
rs752874408
|
|
NM_001378454.1(ALMS1):c.2199T>A (p.Ser733Arg)
|
rs1671860790
|
|
NM_001378454.1(ALMS1):c.2471C>A (p.Ala824Asp)
|
rs754424459
|
|
NM_001378454.1(ALMS1):c.2555C>T (p.Ala852Val)
|
|
|
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu)
|
rs746640196
|
|
NM_001378454.1(ALMS1):c.3091A>G (p.Thr1031Ala)
|
|
|
NM_001378454.1(ALMS1):c.3323A>C (p.Gln1108Pro)
|
rs570286860
|
|
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile)
|
rs752342634
|
|
NM_001378454.1(ALMS1):c.36GGA[8] (p.Glu24_Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.3763G>C (p.Asp1255His)
|
|
|
NM_001378454.1(ALMS1):c.3922G>A (p.Glu1308Lys)
|
|
|
NM_001378454.1(ALMS1):c.4084G>C (p.Val1362Leu)
|
rs534858351
|
|
NM_001378454.1(ALMS1):c.4601A>G (p.Tyr1534Cys)
|
rs751003573
|
|
NM_001378454.1(ALMS1):c.5111C>T (p.Thr1704Ile)
|
rs755683870
|
|
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu)
|
rs962844498
|
|
NM_001378454.1(ALMS1):c.5362G>A (p.Val1788Ile)
|
rs1224043321
|
|
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile)
|
rs1131691296
|
|
NM_001378454.1(ALMS1):c.5440G>T (p.Val1814Phe)
|
|
|
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
|
rs200925575
|
|
NM_001378454.1(ALMS1):c.557A>T (p.Asp186Val)
|
rs375830111
|
|
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu)
|
rs146669152
|
|
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp)
|
rs28730854
|
|
NM_001378454.1(ALMS1):c.6304A>C (p.Asn2102His)
|
rs1386959032
|
|
NM_001378454.1(ALMS1):c.6864T>G (p.Asp2288Glu)
|
rs2103791762
|
|
NM_001378454.1(ALMS1):c.7193C>T (p.Thr2398Ile)
|
rs200470452
|
|
NM_001378454.1(ALMS1):c.7414G>C (p.Gly2472Arg)
|
rs1672006091
|
|
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del)
|
rs754175473
|
|
NM_001378454.1(ALMS1):c.7675-13_7675-10del
|
|
|
NM_001378454.1(ALMS1):c.7836G>A (p.Met2612Ile)
|
|
|
NM_001378454.1(ALMS1):c.8114C>T (p.Pro2705Leu)
|
|
|
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala)
|
rs369650940
|
|
NM_001378454.1(ALMS1):c.8345A>G (p.Asp2782Gly)
|
rs1672950843
|
|
NM_001378454.1(ALMS1):c.9914A>T (p.Asn3305Ile)
|
|
|
NM_001378457.1(DMXL2):c.6416A>T (p.Glu2139Val)
|
|
|
NM_001378457.1(DMXL2):c.8526+8T>C
|
rs768003104
|
|
NM_001378457.1(DMXL2):c.8777C>T (p.Thr2926Met)
|
|
|
NM_001378615.1(CC2D2A):c.4533G>C (p.Trp1511Cys)
|
rs777158229
|
|
NM_001378615.1(CC2D2A):c.4726G>C (p.Asp1576His)
|
rs1064794798
|
|
NM_001378789.1(CERS3):c.118T>C (p.Tyr40His)
|
rs2142329812
|
|
NM_001378964.1(CDON):c.173G>A (p.Arg58His)
|
|
|
NM_001378969.1(KCND3):c.1559G>A (p.Cys520Tyr)
|
|
|
NM_001378974.1(FBXW11):c.937G>A (p.Val313Ile)
|
rs377635644
|
|
NM_001379029.1(CERT1):c.1201G>C (p.Val401Leu)
|
|
|
NM_001379029.1(CERT1):c.1346C>T (p.Ala449Val)
|
|
|
NM_001379029.1(CERT1):c.1613C>T (p.Ala538Val)
|
|
|
NM_001379029.1(CERT1):c.1636C>T (p.Arg546Cys)
|
|
|
NM_001379029.1(CERT1):c.554G>T (p.Cys185Phe)
|
|
|
NM_001379029.1(CERT1):c.871T>C (p.Tyr291His)
|
|
|
NM_001379081.2(FREM1):c.3236C>T (p.Ser1079Phe)
|
|
|
NM_001379110.1(SLC9A6):c.-57+21del
|
rs782431608
|
|
NM_001379110.1(SLC9A6):c.163A>G (p.Ile55Val)
|
|
|
NM_001379200.1(TBX1):c.1096G>T (p.Asp366Tyr)
|
|
|
NM_001379200.1(TBX1):c.1513T>A (p.Ter505Lys)
|
|
|
NM_001379200.1(TBX1):c.215CGC[4] (p.Pro76del)
|
|
|
NM_001379210.1(SLC25A26):c.-13G>A
|
|
|
NM_001379270.1(CNGA1):c.545+5C>T
|
|
|
NM_001379403.1(WDR26):c.1196G>A (p.Arg399Gln)
|
rs1673967254
|
|
NM_001379403.1(WDR26):c.2063G>A (p.Ser688Asn)
|
|
|
NM_001379403.1(WDR26):c.2249A>G (p.Gln750Arg)
|
|
|
NM_001379403.1(WDR26):c.523A>G (p.Asn175Asp)
|
|
|
NM_001379451.1(BCORL1):c.2080G>A (p.Val694Met)
|
|
|
NM_001379451.1(BCORL1):c.3463C>A (p.Pro1155Thr)
|
|
|
NM_001379451.1(BCORL1):c.3960AGA[3] (p.Glu1324dup)
|
rs1292902846
|
|
NM_001379451.1(BCORL1):c.4274A>G (p.Lys1425Arg)
|
rs2124502701
|
|
NM_001379500.1(COL18A1):c.-2G>A
|
rs1321675148
|
|
NM_001379500.1(COL18A1):c.107-11397G>T
|
|
|
NM_001379500.1(COL18A1):c.107-11586del
|
|
|
NM_001379500.1(COL18A1):c.2869-8G>T
|
rs770714794
|
|
NM_001379500.1(COL18A1):c.2964CCCCCCAGG[1] (p.985GPP[3])
|
rs759403198
|
|
NM_001379500.1(COL18A1):c.654G>T (p.Gly218=)
|
|
|
NM_001379610.1(SPINK1):c.*10_*38del
|
|
|
NM_001379610.1(SPINK1):c.*64del
|
|
|
NM_001379610.1(SPINK1):c.-1C>A
|
|
|
NM_001379610.1(SPINK1):c.121A>G (p.Lys41Glu)
|
rs1554089812
|
|
NM_001379610.1(SPINK1):c.128A>G (p.Tyr43Cys)
|
rs1561605311
|
|
NM_001379610.1(SPINK1):c.165del (p.Asn56fs)
|
rs1756441909
|
|
NM_001379610.1(SPINK1):c.168T>A (p.Asn56Lys)
|
rs1756441667
|
|
NM_001379610.1(SPINK1):c.188A>G (p.Glu63Gly)
|
rs1223176202
|
|
NM_001379610.1(SPINK1):c.217A>T (p.Ile73Phe)
|
rs982462613
|
|
NM_001379610.1(SPINK1):c.2T>G (p.Met1Arg)
|
rs104893938
|
|
NM_001379610.1(SPINK1):c.35T>C (p.Leu12Ser)
|
|
|
NM_001379610.1(SPINK1):c.56-91_56-90del
|
|
|
NM_001379610.1(SPINK1):c.87+7A>T
|
rs1756473313
|
|
NM_001379659.1(ZNF142):c.3757C>T (p.Arg1253Cys)
|
|
|
NM_001379659.1(ZNF142):c.4691C>G (p.Pro1564Arg)
|
rs200075933
|
|
NM_001379659.1(ZNF142):c.95C>G (p.Ser32Cys)
|
|
|
NM_001382241.1(TNPO2):c.648+7C>T
|
|
|
NM_001382567.1(STIM1):c.58G>A (p.Gly20Ser)
|
rs2135170451
|
|
NM_001382567.1(STIM1):c.792-4C>A
|
rs200996329
|
|
NM_001383.6(DPH1):c.1086+2dup
|
|
|
NM_001383.6(DPH1):c.786_788del (p.Tyr263del)
|
|
|
NM_001383.6(DPH1):c.801_803del (p.Met268del)
|
|
|
NM_001384125.1(BLTP1):c.4719G>A (p.Met1573Ile)
|
|
|
NM_001384140.1(PCDH15):c.157+41373T>C
|
|
|
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)
|
rs483352837
|
|
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
|
|
|
NM_001384140.1(PCDH15):c.4343A>C (p.Tyr1448Ser)
|
rs397517459
|
|
NM_001384140.1(PCDH15):c.895A>G (p.Ile299Val)
|
|
|
NM_001384474.1(LOXHD1):c.1419C>G (p.Ile473Met)
|
rs545358723
|
|
NM_001384474.1(LOXHD1):c.2695C>T (p.Arg899Trp)
|
|
|
NM_001384474.1(LOXHD1):c.4940C>A (p.Ala1647Asp)
|
|
|
NM_001384474.1(LOXHD1):c.6049+4T>C
|
|
|
NM_001384474.1(LOXHD1):c.6052T>C (p.Tyr2018His)
|
|
|
NM_001384474.1(LOXHD1):c.6341+4T>G
|
|
|
NM_001384732.1(CPLANE1):c.3358A>G (p.Met1120Val)
|
|
|
NM_001384732.1(CPLANE1):c.3908T>C (p.Val1303Ala)
|
|
|
NM_001384732.1(CPLANE1):c.4168_4177delinsGTTG (p.Leu1390_Cys1393delinsValGly)
|
rs2151198005
|
|
NM_001384732.1(CPLANE1):c.5421+5_5421+11delinsTGATAAATACAATTGATA
|
|
|
NM_001384732.1(CPLANE1):c.5819_5820+1del
|
rs750448104
|
|
NM_001384732.1(CPLANE1):c.8326_8328delinsTTT (p.Glu2776Phe)
|
rs1561422940
|
|
NM_001384732.1(CPLANE1):c.9610G>T (p.Glu3204Ter)
|
|
|
NM_001385012.1(NBEA):c.4928-17A>G
|
|
|
NM_001385012.1(NBEA):c.6179+6_6179+7del
|
|
|
NM_001385012.1(NBEA):c.8168T>G (p.Phe2723Cys)
|
|
|
NM_001385012.1(NBEA):c.872A>G (p.Tyr291Cys)
|
rs2152563405
|
|
NM_001385079.1(PDE10A):c.2220-9A>C
|
|
|
NM_001385875.1(ZFYVE27):c.101C>T (p.Ala34Val)
|
|
|
NM_001386135.1(AFF3):c.3544G>A (p.Ala1182Thr)
|
|
|
NM_001386140.1(MTTP):c.1655C>T (p.Pro552Leu)
|
rs758371780
|
|
NM_001386140.1(MTTP):c.2125G>A (p.Gly709Arg)
|
|
|
NM_001386298.1(CIC):c.1397C>T (p.Pro466Leu)
|
|
|
NM_001386298.1(CIC):c.1800C>T (p.Ala600=)
|
|
|
NM_001386298.1(CIC):c.1828C>T (p.Arg610Cys)
|
|
|
NM_001386298.1(CIC):c.3143G>A (p.Arg1048Gln)
|
rs760049446
|
|
NM_001386298.1(CIC):c.355AAG[2] (p.Lys121del)
|
|
|
NM_001386298.1(CIC):c.3892C>G (p.Pro1298Ala)
|
rs199556766
|
|
NM_001386298.1(CIC):c.3898C>T (p.Pro1300Ser)
|
|
|
NM_001386298.1(CIC):c.4334C>G (p.Ala1445Gly)
|
|
|
NM_001386298.1(CIC):c.5650A>G (p.Ser1884Gly)
|
|
|
NM_001386393.1(PANK2):c.1009G>A (p.Asp337Asn)
|
|
|
NM_001386393.1(PANK2):c.1083-3_1083-2del
|
rs760705943
|
|
NM_001386393.1(PANK2):c.1112G>A (p.Arg371Gln)
|
rs1241995212
|
|
NM_001386393.1(PANK2):c.1277A>G (p.Tyr426Cys)
|
rs1193865095
|
|
NM_001386393.1(PANK2):c.416G>C (p.Arg139Pro)
|
|
|
NM_001386393.1(PANK2):c.457A>T (p.Ile153Phe)
|
|
|
NM_001386393.1(PANK2):c.568A>G (p.Arg190Gly)
|
|
|
NM_001386795.1(DTNA):c.148+8T>C
|
|
|
NM_001386795.1(DTNA):c.1561C>T (p.Arg521Trp)
|
|
|
NM_001386795.1(DTNA):c.1646+17A>G
|
|
|
NM_001386795.1(DTNA):c.2083G>T (p.Ala695Ser)
|
|
|
NM_001386795.1(DTNA):c.2295+5A>G
|
rs191417978
|
|
NM_001387430.1(SH2B1):c.872G>A (p.Arg291His)
|
|
|
NM_001388492.1(HTT):c.2434C>T (p.Arg812Trp)
|
|
|
NM_001393504.1(MAST3):c.1477G>A (p.Val493Met)
|
|
|
NM_001393769.1(MED12L):c.1846G>T (p.Ala616Ser)
|
|
|
NM_001393769.1(MED12L):c.2381G>T (p.Ser794Ile)
|
rs2150018879
|
|
NM_001393769.1(MED12L):c.4238T>C (p.Met1413Thr)
|
|
|
NM_001393769.1(MED12L):c.5828C>T (p.Pro1943Leu)
|
|
|
NM_001393769.1(MED12L):c.680T>G (p.Met227Arg)
|
|
|
NM_001393769.1(MED12L):c.787A>G (p.Arg263Gly)
|
|
|
NM_001394062.1(MACF1):c.13807A>G (p.Ile4603Val)
|
|
|
NM_001394062.1(MACF1):c.171+3A>C
|
|
|
NM_001394062.1(MACF1):c.2864_2865delinsCT (p.Trp955Ser)
|
rs1646259225
|
|
NM_001394062.1(MACF1):c.3989A>G (p.Gln1330Arg)
|
|
|
NM_001394073.1(HS6ST2):c.1742C>T (p.Pro581Leu)
|
|
|
NM_001394073.1(HS6ST2):c.536A>G (p.Gln179Arg)
|
|
|
NM_001394372.1(BICRA):c.4304T>G (p.Val1435Gly)
|
|
|
NM_001394998.1(TANC2):c.2107T>A (p.Ser703Thr)
|
|
|
NM_001394998.1(TANC2):c.77G>A (p.Ser26Asn)
|
|
|
NM_001395413.1(POR):c.138G>C (p.Lys46Asn)
|
|
|
NM_001395413.1(POR):c.1928_1930del (p.Phe643del)
|
|
|
NM_001395413.1(POR):c.2032T>G (p.Ter678Glu)
|
rs782566269
|
|
NM_001395413.1(POR):c.636GGA[2] (p.Glu214del)
|
rs782434696
|
|
NM_001395413.1(POR):c.804C>A (p.Ser268Arg)
|
rs201598971
|
|
NM_001397.3(ECE1):c.1601C>T (p.Ala534Val)
|
|
|
NM_001399.5(EDA):c.398T>C (p.Met133Thr)
|
|
|
NM_001399.5(EDA):c.931T>C (p.Tyr311His)
|
rs1085307599
|
|
NM_001414.4(EIF2B1):c.13+5A>G
|
|
|
NM_001414.4(EIF2B1):c.577G>A (p.Val193Ile)
|
rs1028819794
|
|
NM_001414.4(EIF2B1):c.627+3A>G
|
|
|
NM_001414.4(EIF2B1):c.770_771del (p.Leu257fs)
|
rs746435041
|
|
NM_001429.4(EP300):c.2596C>A (p.Pro866Thr)
|
|
|
NM_001429.4(EP300):c.3261+3A>G
|
|
|
NM_001429.4(EP300):c.3569C>T (p.Thr1190Ile)
|
|
|
NM_001429.4(EP300):c.3772T>C (p.Cys1258Arg)
|
rs2145756430
|
|
NM_001429.4(EP300):c.458T>C (p.Met153Thr)
|
|
|
NM_001429.4(EP300):c.4934_4939del (p.Arg1645_Ala1647delinsPro)
|
|
|
NM_001429.4(EP300):c.6722A>G (p.Gln2241Arg)
|
|
|
NM_001447.3(FAT2):c.10027G>T (p.Val3343Leu)
|
|
|
NM_001447.3(FAT2):c.10054del (p.Pro3351_Leu3352insTer)
|
|
|
NM_001447.3(FAT2):c.11171T>C (p.Met3724Thr)
|
|
|
NM_001447.3(FAT2):c.12538G>C (p.Val4180Leu)
|
|
|
NM_001447.3(FAT2):c.1277G>A (p.Arg426Lys)
|
|
|
NM_001447.3(FAT2):c.12933_12936del (p.Cys4312fs)
|
|
|
NM_001447.3(FAT2):c.2197C>T (p.Pro733Ser)
|
|
|
NM_001447.3(FAT2):c.3214C>A (p.Arg1072Ser)
|
|
|
NM_001447.3(FAT2):c.5629T>C (p.Tyr1877His)
|
|
|
NM_001447.3(FAT2):c.698G>A (p.Gly233Asp)
|
|
|
NM_001447.3(FAT2):c.7359G>T (p.Arg2453Ser)
|
|
|
NM_001447.3(FAT2):c.8147T>C (p.Val2716Ala)
|
|
|
NM_001448.3(GPC4):c.1028C>T (p.Pro343Leu)
|
|
|
NM_001457.4(FLNB):c.1925G>A (p.Gly642Asp)
|
|
|
NM_001457.4(FLNB):c.2056-15_2056-10del
|
|
|
NM_001457.4(FLNB):c.2484+8G>T
|
rs759532391
|
|
NM_001457.4(FLNB):c.317A>G (p.Asn106Ser)
|
|
|
NM_001457.4(FLNB):c.4625T>C (p.Ile1542Thr)
|
rs1356745912
|
|
NM_001457.4(FLNB):c.6367+7G>C
|
rs201871482
|
|
NM_001458.5(FLNC):c.325C>A (p.Arg109Ser)
|
rs2128932240
|
|
NM_001458.5(FLNC):c.3882C>G (p.Asn1294Lys)
|
rs1808552408
|
|
NM_001458.5(FLNC):c.4024G>C (p.Val1342Leu)
|
|
|
NM_001458.5(FLNC):c.4150G>A (p.Gly1384Ser)
|
|
|
NM_001458.5(FLNC):c.7078G>A (p.Ala2360Thr)
|
rs1390516682
|
|
NM_001482.3(GATM):c.1159+17A>T
|
|
|
NM_001493.3(GDI1):c.275T>C (p.Leu92Pro)
|
rs121434607
|
|
NM_001527.4(HDAC2):c.323T>C (p.Phe108Ser)
|
rs1776561501
|
|
NM_001540.5(HSPB1):c.380G>A (p.Arg127Gln)
|
rs587781250
|
|
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu)
|
rs367662394
|
|
NM_001556.3(IKBKB):c.2115-8T>C
|
rs2130735549
|
|
NM_001556.3(IKBKB):c.2269T>C (p.Ter757Arg)
|
|
|
NM_001571.6(IRF3):c.1004G>A (p.Gly335Glu)
|
|
|
NM_001571.6(IRF3):c.286C>T (p.Arg96Trp)
|
|
|
NM_001571.6(IRF3):c.84C>G (p.Asn28Lys)
|
|
|
NM_001605.3(AARS1):c.2722-28_2740dup
|
rs768242660
|
|
NM_001609.4(ACADSB):c.1A>T (p.Met1Leu)
|
|
|
NM_001609.4(ACADSB):c.908G>C (p.Gly303Ala)
|
|
|
NM_001611.5(ACP5):c.418C>T (p.His140Tyr)
|
rs2145089608
|
|
NM_001613.4(ACTA2):c.139G>A (p.Val47Met)
|
rs1181233032
|
|
NM_001613.4(ACTA2):c.274T>C (p.Phe92Leu)
|
|
|
NM_001613.4(ACTA2):c.991-7C>T
|
rs765100909
|
|
NM_001614.5(ACTG1):c.270C>A (p.Phe90Leu)
|
|
|
NM_001625.4(AK2):c.523C>G (p.Arg175Gly)
|
rs1375379850
|
|
NM_001643.2(APOA2):c.293C>A (p.Ala98Asp)
|
rs1666183842
|
|
NM_001655.5(ARCN1):c.428T>G (p.Val143Gly)
|
|
|
NM_001655.5(ARCN1):c.479G>A (p.Arg160His)
|
|
|
NM_001658.4(ARF1):c.283A>C (p.Asn95His)
|
|
|
NM_001673.5(ASNS):c.1138G>T (p.Ala380Ser)
|
rs758183057
|
|
NM_001673.5(ASNS):c.347T>C (p.Met116Thr)
|
rs76704189
|
|
NM_001673.5(ASNS):c.751A>G (p.Arg251Gly)
|
|
|
NM_001673.5(ASNS):c.753_755del (p.Arg252del)
|
rs752897486
|
|
NM_001677.4(ATP1B1):c.568-20A>C
|
|
|
NM_001677.4(ATP1B1):c.97+10G>C
|
rs1657604508
|
|
NM_001680.5(FXYD2):c.185A>G (p.Asn62Ser)
|
|
|
NM_001690.4(ATP6V1A):c.1292_1293insTCTATCTAATCTA (p.Phe432fs)
|
rs2108040640
|
|
NM_001692.4(ATP6V1B1):c.1249-15_1249-11del
|
rs886056273
|
|
NM_001692.4(ATP6V1B1):c.1513C>T (p.Gln505Ter)
|
rs2104834953
|
|
NM_001693.4(ATP6V1B2):c.961C>T (p.Arg321Ter)
|
|
|
NM_001701.4(BAAT):c.134A>G (p.Tyr45Cys)
|
|
|
NM_001711.6(BGN):c.196G>A (p.Gly66Ser)
|
|
|
NM_001711.6(BGN):c.771-7C>A
|
rs782014544
|
|
NM_001715.3(BLK):c.742G>A (p.Gly248Arg)
|
rs763307492
|
|
NM_001733.7(C1R):c.2000G>A (p.Arg667His)
|
|
|
NM_001733.7(C1R):c.395A>T (p.Lys132Met)
|
|
|
NM_001733.7(C1R):c.635G>A (p.Arg212Gln)
|
|
|
NM_001734.5(C1S):c.2001_2017dup (p.Asp673delinsGlyTer)
|
|
|
NM_001735.3(C5):c.4083A>G (p.Val1361=)
|
|
|
NM_001739.2(CA5A):c.767_774+13del
|
rs762768981
|
|
NM_001742.4(CALCR):c.1358del (p.Asn453fs)
|
rs753161420
|
|
NM_001744.6(CAMK4):c.940C>T (p.Gln314Ter)
|
rs1755482400
|
|
NM_001807.6(CEL):c.1974del (p.Val659fs)
|
rs1341981506
|
|
NM_001813.3(CENPE):c.1410T>A (p.Asp470Glu)
|
|
|
NM_001814.6(CTSC):c.706G>T (p.Asp236Tyr)
|
|
|
NM_001830.4(CLCN4):c.1318A>G (p.Thr440Ala)
|
|
|
NM_001830.4(CLCN4):c.1506C>G (p.Asn502Lys)
|
|
|
NM_001844.5(COL2A1):c.2679G>C (p.Pro893=)
|
rs369684691
|
|
NM_001845.6(COL4A1):c.1120+3G>A
|
|
|
NM_001845.6(COL4A1):c.1605C>A (p.Phe535Leu)
|
|
|
NM_001845.6(COL4A1):c.2705C>T (p.Pro902Leu)
|
rs146134172
|
|
NM_001845.6(COL4A1):c.3325+8A>C
|
|
|
NM_001845.6(COL4A1):c.3556+16T>A
|
|
|
NM_001845.6(COL4A1):c.4727C>T (p.Ser1576Leu)
|
|
|
NM_001845.6(COL4A1):c.4994G>A (p.Cys1665Tyr)
|
rs794727751
|
|
NM_001846.4(COL4A2):c.1064C>T (p.Pro355Leu)
|
|
|
NM_001846.4(COL4A2):c.1754T>C (p.Phe585Ser)
|
|
|
NM_001846.4(COL4A2):c.1894C>T (p.Arg632Cys)
|
|
|
NM_001846.4(COL4A2):c.2488G>A (p.Gly830Ser)
|
rs1333372502
|
|
NM_001846.4(COL4A2):c.3094A>G (p.Ile1032Val)
|
rs2139529268
|
|
NM_001846.4(COL4A2):c.4996C>T (p.His1666Tyr)
|
rs1884100870
|
|
NM_001846.4(COL4A2):c.684+19G>C
|
|
|
NM_001846.4(COL4A2):c.861+3A>G
|
|
|
NM_001846.4(COL4A2):c.862-7C>T
|
|
|
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg)
|
rs764556767
|
|
NM_001848.3(COL6A1):c.1801A>C (p.Met601Leu)
|
rs774610686
|
|
NM_001848.3(COL6A1):c.508G>T (p.Gly170Trp)
|
rs370889024
|
|
NM_001849.4(COL6A2):c.2351G>T (p.Arg784Leu)
|
|
|
NM_001849.4(COL6A2):c.2857G>A (p.Gly953Ser)
|
|
|
NM_001849.4(COL6A2):c.2917G>T (p.Val973Leu)
|
rs145959270
|
|
NM_001849.4(COL6A2):c.350C>T (p.Ser117Phe)
|
|
|
NM_001851.6(COL9A1):c.2504-11A>G
|
|
|
NM_001852.4(COL9A2):c.1753G>A (p.Val585Met)
|
rs202153520
|
|
NM_001852.4(COL9A2):c.1792+5G>A
|
|
|
NM_001853.4(COL9A3):c.543_551del (p.179PPG[2])
|
rs765392378
|
|
NM_001853.4(COL9A3):c.893G>C (p.Gly298Ala)
|
rs764062674
|
|
NM_001853.4(COL9A3):c.97C>T (p.Pro33Ser)
|
rs745914662
|
|
NM_001854.4(COL11A1):c.106+8A>G
|
|
|
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile)
|
rs141817156
|
|
NM_001854.4(COL11A1):c.1309-4A>T
|
|
|
NM_001854.4(COL11A1):c.1792-17T>C
|
rs2101851501
|
|
NM_001854.4(COL11A1):c.1945-19C>T
|
rs1571000550
|
|
NM_001854.4(COL11A1):c.2196+17T>C
|
|
|
NM_001854.4(COL11A1):c.2864G>C (p.Gly955Ala)
|
|
|
NM_001854.4(COL11A1):c.4228C>T (p.Arg1410Trp)
|
rs778331804
|
|
NM_001875.5(CPS1):c.1169T>G (p.Leu390Arg)
|
rs2106116333
|
|
NM_001875.5(CPS1):c.1895T>G (p.Ile632Arg)
|
rs1553512974
|
|
NM_001875.5(CPS1):c.2002C>T (p.Pro668Ser)
|
|
|
NM_001875.5(CPS1):c.2021A>T (p.Asn674Ile)
|
|
|
NM_001875.5(CPS1):c.2153G>A (p.Arg718Lys)
|
rs1559102901
|
|
NM_001875.5(CPS1):c.2162G>A (p.Arg721Gln)
|
|
|
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys)
|
rs201716417
|
|
NM_001875.5(CPS1):c.2975T>C (p.Phe992Ser)
|
|
|
NM_001875.5(CPS1):c.3069C>A (p.Asp1023Glu)
|
|
|
NM_001875.5(CPS1):c.3523G>A (p.Glu1175Lys)
|
rs146968493
|
|
NM_001875.5(CPS1):c.3927+4A>G
|
|
|
NM_001875.5(CPS1):c.3959A>T (p.Asp1320Val)
|
|
|
NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu)
|
rs1202306773
|
|
NM_001875.5(CPS1):c.4471T>C (p.Tyr1491His)
|
rs1553519513
|
|
NM_001876.4(CPT1A):c.1352+5C>A
|
|
|
NM_001876.4(CPT1A):c.2142+6T>C
|
rs777779540
|
|
NM_001904.4(CTNNB1):c.599G>T (p.Arg200Leu)
|
|
|
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser)
|
rs1845913637
|
|
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)
|
rs768389398
|
|
NM_001918.5(DBT):c.1281+4C>G
|
|
|
NM_001918.5(DBT):c.206T>G (p.Leu69Arg)
|
|
|
NM_001918.5(DBT):c.413T>C (p.Ile138Thr)
|
|
|
NM_001918.5(DBT):c.433+6G>A
|
|
|
NM_001918.5(DBT):c.717_720delinsCAAACCTCCG (p.Leu240delinsLysProPro)
|
|
|
NM_001918.5(DBT):c.872G>T (p.Arg291Leu)
|
rs775808731
|
|
NM_001927.4(DES):c.1286G>A (p.Arg429Gln)
|
rs200580581
|
|
NM_001927.4(DES):c.1353C>G (p.Ile451Met)
|
rs121913002
|
|
NM_001927.4(DES):c.154C>A (p.Arg52Ser)
|
rs794728990
|
|
NM_001927.4(DES):c.439G>A (p.Glu147Lys)
|
|
|
NM_001927.4(DES):c.472GAGCTGCGG[3] (p.Arg163_Arg164insGluLeuArg)
|
|
|
NM_001927.4(DES):c.623T>C (p.Leu208Ser)
|
rs373062962
|
|
NM_001927.4(DES):c.700G>A (p.Glu234Lys)
|
rs774739275
|
|
NM_001931.5(DLAT):c.470T>G (p.Val157Gly)
|
rs797044957
|
|
NM_001940.4(ATN1):c.1464GCA[8] (p.Gln496_Gln502del)
|
rs60216939
|
|
NM_001940.4(ATN1):c.2566C>G (p.Pro856Ala)
|
|
|
NM_001943.5(DSG2):c.1194C>G (p.Ser398Arg)
|
rs770669833
|
|
NM_001943.5(DSG2):c.1483A>T (p.Asn495Tyr)
|
|
|
NM_001943.5(DSG2):c.2112T>G (p.Ile704Met)
|
rs794728081
|
|
NM_001943.5(DSG2):c.2215A>C (p.Ile739Leu)
|
rs772240008
|
|
NM_001943.5(DSG2):c.2435G>A (p.Gly812Asp)
|
|
|
NM_001943.5(DSG2):c.2524G>C (p.Gly842Arg)
|
|
|
NM_001943.5(DSG2):c.305T>A (p.Phe102Tyr)
|
rs2073123855
|
|
NM_001943.5(DSG2):c.3251C>T (p.Pro1084Leu)
|
|
|
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn)
|
rs386802145
|
|
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala)
|
rs778884735
|
|
NM_001943.5(DSG2):c.42_44del (p.Leu15del)
|
rs2072994567
|
|
NM_001943.5(DSG2):c.829-4G>A
|
rs376424003
|
|
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu)
|
rs2230234
|
|
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr)
|
rs727505205
|
|
NM_001953.5(TYMP):c.1135G>A (p.Glu379Lys)
|
|
|
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp)
|
rs1064792873
|
|
NM_001953.5(TYMP):c.228G>A (p.Met76Ile)
|
rs1064792859
|
|
NM_001958.5(EEF1A2):c.324+9G>A
|
rs2145945388
|
|
NM_001961.4(EEF2):c.1531G>T (p.Ala511Ser)
|
|
|
NM_001961.4(EEF2):c.238G>A (p.Glu80Lys)
|
|
|
NM_001966.4(EHHADH):c.2100dup (p.Leu701fs)
|
|
|
NM_001966.4(EHHADH):c.828_830delinsCAT (p.Arg276_Lys277delinsSerIle)
|
rs1560008854
|
|
NM_001987.5(ETV6):c.-29G>A
|
|
|
NM_001987.5(ETV6):c.985G>A (p.Ala329Thr)
|
|
|
NM_001994.3(F13B):c.1803_1806delinsAAC (p.Asp601fs)
|
|
|
NM_001994.3(F13B):c.451+3A>G
|
|
|
NM_001999.4(FBN2):c.1105G>T (p.Gly369Cys)
|
|
|
NM_001999.4(FBN2):c.2675-20C>T
|
|
|
NM_001999.4(FBN2):c.3815A>G (p.Tyr1272Cys)
|
|
|
NM_001999.4(FBN2):c.4098_4099delinsCA (p.Asp1367Asn)
|
|
|
NM_001999.4(FBN2):c.4099+12G>A
|
|
|
NM_001999.4(FBN2):c.4472-18_4472-17delinsA
|
rs863223596
|
|
NM_001999.4(FBN2):c.6173A>G (p.Asn2058Ser)
|
|
|
NM_002016.2(FLG):c.7595C>T (p.Ser2532Leu)
|
rs756739106
|
|
NM_002024.6(FMR1):c.1109G>A (p.Ser370Asn)
|
|
|
NM_002024.6(FMR1):c.1325G>A (p.Arg442Gln)
|
|
|
NM_002025.4(AFF2):c.2725G>A (p.Glu909Lys)
|
|
|
NM_002025.4(AFF2):c.3267+5G>C
|
rs374064624
|
|
NM_002047.4(GARS1):c.1171C>A (p.Arg391Ser)
|
rs370057212
|
|
NM_002047.4(GARS1):c.1304A>G (p.Asn435Ser)
|
|
|
NM_002055.5(GFAP):c.1127+2T>A
|
|
|
NM_002055.5(GFAP):c.145C>T (p.Arg49Trp)
|
|
|
NM_002055.5(GFAP):c.403G>A (p.Ala135Thr)
|
|
|
NM_002055.5(GFAP):c.428A>G (p.Asn143Ser)
|
|
|
NM_002055.5(GFAP):c.586G>T (p.Glu196Ter)
|
|
|
NM_002055.5(GFAP):c.934G>A (p.Glu312Lys)
|
rs763868966
|
|
NM_002067.5(GNA11):c.476+1G>C
|
rs138878739
|
|
NM_002069.6(GNAI1):c.875-2A>G
|
|
|
NM_002074.5(GNB1):c.-16G>A
|
|
|
NM_002074.5(GNB1):c.280C>T (p.Pro94Ser)
|
rs1646671069
|
|
NM_002074.5(GNB1):c.916+3A>G
|
|
|
NM_002074.5(GNB1):c.99C>G (p.Ile33Met)
|
|
|
NM_002076.4(GNS):c.1581-2A>G
|
|
|
NM_002087.4:c.(?_-41)_(-8+1_-7-1)del
|
|
|
NM_002108.4(HAL):c.840G>A (p.Trp280Ter)
|
|
|
NM_002109.6(HARS1):c.173C>T (p.Thr58Ile)
|
|
|
NM_002113.3(CFHR1):c.259dup (p.Cys87fs)
|
|
|
NM_002113.3(CFHR1):c.835G>A (p.Ala279Thr)
|
|
|
NM_002137.4(HNRNPA2B1):c.830A>G (p.Asn277Ser)
|
|
|
NM_002139.4(RBMX):c.389-17T>C
|
|
|
NM_002148.4(HOXD10):c.125A>G (p.Asp42Gly)
|
|
|
NM_002150.3(HPD):c.163C>T (p.Arg55Trp)
|
rs2137633084
|
|
NM_002150.3(HPD):c.460G>A (p.Gly154Ser)
|
|
|
NM_002150.3(HPD):c.978C>G (p.Tyr326Ter)
|
rs781659195
|
|
NM_002156.5(HSPD1):c.*16T>C
|
|
|
NM_002156.5(HSPD1):c.1679_1687del (p.Ala560_Gly562del)
|
|
|
NM_002156.5(HSPD1):c.323A>C (p.Glu108Ala)
|
|
|
NM_002156.5(HSPD1):c.946A>G (p.Met316Val)
|
|
|
NM_002160.4(TNC):c.5758G>T (p.Val1920Phe)
|
|
|
NM_002168.4(IDH2):c.1271+3G>A
|
|
|
NM_002168.4(IDH2):c.640G>A (p.Ala214Thr)
|
|
|
NM_002180.3(IGHMBP2):c.1807C>T (p.Arg603Cys)
|
rs1465803265
|
|
NM_002185.5(IL7R):c.536C>T (p.Thr179Met)
|
|
|
NM_002185.5(IL7R):c.882A>C (p.Leu294Phe)
|
rs193922647
|
|
NM_002225.5(IVD):c.1065G>C (p.Lys355Asn)
|
rs910454086
|
|
NM_002225.5(IVD):c.1138+3_1138+14del
|
|
|
NM_002225.5(IVD):c.380G>T (p.Gly127Val)
|
rs1195537609
|
|
NM_002225.5(IVD):c.860T>C (p.Leu287Pro)
|
|
|
NM_002225.5(IVD):c.889G>A (p.Ala297Thr)
|
rs2141355228
|
|
NM_002226.5(JAG2):c.3046C>T (p.Arg1016Trp)
|
|
|
NM_002230.4(JUP):c.1232C>T (p.Ala411Val)
|
rs1060502680
|
|
NM_002230.4(JUP):c.1730G>T (p.Arg577Leu)
|
rs373434456
|
|
NM_002230.4(JUP):c.2046+7A>G
|
|
|
NM_002230.4(JUP):c.737C>A (p.Ala246Asp)
|
rs1419166927
|
|
NM_002230.4(JUP):c.842A>G (p.Asn281Ser)
|
rs574465470
|
|
NM_002230.4(JUP):c.886G>T (p.Ala296Ser)
|
|
|
NM_002230.4(JUP):c.905G>A (p.Ser302Asn)
|
rs570714124
|
|
NM_002234.4(KCNA5):c.601C>T (p.Arg201Cys)
|
rs764783669
|
|
NM_002249.6(KCNN3):c.470A>C (p.Gln157Pro)
|
|
|
NM_002249.6(KCNN3):c.592C>G (p.Leu198Val)
|
|
|
NM_002267.4(KPNA3):c.1028A>C (p.Asn343Thr)
|
|
|
NM_002294.3(LAMP2):c.1024G>A (p.Ala342Thr)
|
|
|
NM_002294.3(LAMP2):c.380C>G (p.Pro127Arg)
|
rs1200950486
|
|
NM_002294.3(LAMP2):c.755T>C (p.Ile252Thr)
|
rs141541387
|
|
NM_002294.3(LAMP2):c.865-8del
|
rs746330494
|
|
NM_002317.7(LOX):c.631+6T>G
|
|
|
NM_002317.7(LOX):c.91C>T (p.Pro31Ser)
|
|
|
NM_002334.4(LRP4):c.1280G>A (p.Arg427Gln)
|
rs569764064
|
|
NM_002335.4(LRP5):c.169A>G (p.Ile57Val)
|
|
|
NM_002335.4(LRP5):c.35T>A (p.Leu12Gln)
|
rs1019409513
|
|
NM_002335.4(LRP5):c.796C>T (p.Arg266Cys)
|
|
|
NM_002335.4(LRP5):c.893G>A (p.Arg298His)
|
|
|
NM_002381.5(MATN3):c.541C>G (p.Arg181Gly)
|
|
|
NM_002408.4(MGAT2):c.76A>G (p.Ser26Gly)
|
|
|
NM_002430.3(MN1):c.113C>A (p.Ala38Asp)
|
rs1933412795
|
|
NM_002430.3(MN1):c.25C>G (p.Pro9Ala)
|
rs763125504
|
|
NM_002430.3(MN1):c.3048G>C (p.Leu1016Phe)
|
|
|
NM_002430.3(MN1):c.36C>A (p.Asn12Lys)
|
|
|
NM_002435.3(MPI):c.42G>T (p.Gln14His)
|
|
|
NM_002435.3(MPI):c.455G>A (p.Arg152Gln)
|
|
|
NM_002444.3(MSN):c.1222C>T (p.Arg408Trp)
|
rs748200741
|
|
NM_002449.5(MSX2):c.789G>T (p.Met263Ile)
|
|
|
NM_002465.4(MYBPC1):c.1526+5G>A
|
|
|
NM_002465.4(MYBPC1):c.283A>G (p.Lys95Glu)
|
|
|
NM_002470.4(MYH3):c.1960-5C>T
|
|
|
NM_002470.4(MYH3):c.3413G>A (p.Ser1138Asn)
|
|
|
NM_002470.4(MYH3):c.52C>T (p.Arg18Trp)
|
|
|
NM_002471.4(MYH6):c.2068del (p.Leu690fs)
|
rs779614256
|
|
NM_002471.4(MYH6):c.2357T>A (p.Ile786Asn)
|
|
|
NM_002471.4(MYH6):c.3252-1G>A
|
|
|
NM_002471.4(MYH6):c.3331A>G (p.Lys1111Glu)
|
rs1566509397
|
|
NM_002471.4(MYH6):c.3979-9_3979-7delinsG
|
rs796876119
|
|
NM_002471.4(MYH6):c.4265G>T (p.Arg1422Leu)
|
rs574433291
|
|
NM_002471.4(MYH6):c.5476G>C (p.Gly1826Arg)
|
rs202141059
|
|
NM_002471.4(MYH6):c.5513C>G (p.Ser1838Trp)
|
rs747673552
|
|
NM_002471.4(MYH6):c.5565+5G>A
|
|
|
NM_002471.4(MYH6):c.5566-16del
|
rs1890917892
|
|
NM_002471.4(MYH6):c.751A>G (p.Ile251Val)
|
|
|
NM_002471.4(MYH6):c.992T>C (p.Met331Thr)
|
|
|
NM_002472.3(MYH8):c.3137A>C (p.Lys1046Thr)
|
|
|
NM_002473.6(MYH9):c.1537G>A (p.Asp513Asn)
|
|
|
NM_002473.6(MYH9):c.2976+9C>T
|
|
|
NM_002473.6(MYH9):c.4222T>C (p.Tyr1408His)
|
|
|
NM_002473.6(MYH9):c.4489C>T (p.Arg1497Trp)
|
|
|
NM_002473.6(MYH9):c.4745A>G (p.Glu1582Gly)
|
|
|
NM_002474.3(MYH11):c.1575+6G>A
|
rs2041769693
|
|
NM_002474.3(MYH11):c.1864+18C>T
|
|
|
NM_002474.3(MYH11):c.2195C>A (p.Ala732Glu)
|
rs764831521
|
|
NM_002474.3(MYH11):c.2747A>G (p.Lys916Arg)
|
rs1382626826
|
|
NM_002474.3(MYH11):c.3115C>G (p.Leu1039Val)
|
rs1223757069
|
|
NM_002474.3(MYH11):c.3654C>G (p.Ala1218=)
|
rs1555554196
|
|
NM_002474.3(MYH11):c.404C>T (p.Ser135Leu)
|
rs760445629
|
|
NM_002474.3(MYH11):c.4150G>A (p.Ala1384Thr)
|
rs775802674
|
|
NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[3] (p.1741LEEE[3])
|
rs777249764
|
|
NM_002474.3(MYH11):c.531-19_531-17del
|
rs2042478963
|
|
NM_002474.3(MYH11):c.5488G>A (p.Val1830Ile)
|
rs185904370
|
|
NM_002474.3(MYH11):c.5732C>G (p.Thr1911Arg)
|
rs748516947
|
|
NM_002474.3(MYH11):c.809G>C (p.Arg270Pro)
|
|
|
NM_002474.3(MYH11):c.886A>G (p.Arg296Gly)
|
rs2042214133
|
|
NM_002474.3(MYH11):c.95C>G (p.Ala32Gly)
|
|
|
NM_002485.5(NBN):c.-2C>A
|
rs202104448
|
|
NM_002485.5(NBN):c.1012C>T (p.Pro338Ser)
|
rs1554560467
|
|
NM_002485.5(NBN):c.101T>G (p.Leu34Arg)
|
rs1012390181
|
|
NM_002485.5(NBN):c.1073T>G (p.Val358Gly)
|
rs1563538793
|
|
NM_002485.5(NBN):c.1081A>G (p.Thr361Ala)
|
rs1563538728
|
|
NM_002485.5(NBN):c.1197_1198inv (p.Ala400Thr)
|
|
|
NM_002485.5(NBN):c.1199C>T (p.Ala400Val)
|
rs779218232
|
|
NM_002485.5(NBN):c.1216T>G (p.Ser406Ala)
|
rs1810666368
|
|
NM_002485.5(NBN):c.1313G>T (p.Ser438Ile)
|
rs786203131
|
|
NM_002485.5(NBN):c.1397+4T>G
|
rs770699381
|
|
NM_002485.5(NBN):c.1444A>G (p.Arg482Gly)
|
rs886063168
|
|
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro)
|
rs587781380
|
|
NM_002485.5(NBN):c.1588T>G (p.Ser530Ala)
|
|
|
NM_002485.5(NBN):c.1603T>G (p.Ser535Ala)
|
rs1563526265
|
|
NM_002485.5(NBN):c.1666G>A (p.Val556Met)
|
rs771567358
|
|
NM_002485.5(NBN):c.171G>T (p.Leu57=)
|
rs1554569001
|
|
NM_002485.5(NBN):c.1769G>C (p.Arg590Thr)
|
rs1563524967
|
|
NM_002485.5(NBN):c.1814A>T (p.Asp605Val)
|
rs1810522103
|
|
NM_002485.5(NBN):c.1842A>G (p.Ile614Met)
|
rs770345026
|
|
NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr)
|
rs756036331
|
|
NM_002485.5(NBN):c.2053T>G (p.Phe685Val)
|
rs768715280
|
|
NM_002485.5(NBN):c.2132_2134delinsTTT (p.His711_His712delinsLeuTyr)
|
|
|
NM_002485.5(NBN):c.2184+6_2184+8del
|
rs1810028870
|
|
NM_002485.5(NBN):c.220T>C (p.Tyr74His)
|
rs587780094
|
|
NM_002485.5(NBN):c.2224G>T (p.Asp742Tyr)
|
rs746479577
|
|
NM_002485.5(NBN):c.250C>A (p.Gln84Lys)
|
rs1586108714
|
|
NM_002485.5(NBN):c.268A>G (p.Thr90Ala)
|
rs1554568315
|
|
NM_002485.5(NBN):c.280G>A (p.Gly94Arg)
|
rs1563580785
|
|
NM_002485.5(NBN):c.304T>C (p.Phe102Leu)
|
rs1554568285
|
|
NM_002485.5(NBN):c.361G>T (p.Asp121Tyr)
|
rs777916019
|
|
NM_002485.5(NBN):c.37+2dup
|
rs876658183
|
|
NM_002485.5(NBN):c.38-1G>A
|
rs1812140936
|
|
NM_002485.5(NBN):c.406G>A (p.Gly136Arg)
|
rs1554567936
|
|
NM_002485.5(NBN):c.503G>A (p.Gly168Glu)
|
rs1554566728
|
|
NM_002485.5(NBN):c.517A>G (p.Lys173Glu)
|
rs1563574056
|
|
NM_002485.5(NBN):c.637T>G (p.Ser213Ala)
|
rs1811503894
|
|
NM_002485.5(NBN):c.702+8T>C
|
rs1563561325
|
|
NM_002485.5(NBN):c.914T>C (p.Ile305Thr)
|
rs1586076225
|
|
NM_002485.5(NBN):c.976C>G (p.Gln326Glu)
|
rs121908973
|
|
NM_002495.4(NDUFS4):c.2T>C (p.Met1Thr)
|
rs768297131
|
|
NM_002500.5(NEUROD1):c.337C>T (p.Arg113Cys)
|
|
|
NM_002500.5(NEUROD1):c.616dup (p.His206fs)
|
rs387906384
|
|
NM_002516.4(NOVA2):c.1211G>A (p.Ser404Asn)
|
|
|
NM_002516.4(NOVA2):c.241C>T (p.Arg81Trp)
|
|
|
NM_002524.5(NRAS):c.203G>C (p.Arg68Thr)
|
rs1659097707
|
|
NM_002524.5(NRAS):c.503T>A (p.Met168Lys)
|
rs1658970846
|
|
NM_002524.5(NRAS):c.5C>T (p.Thr2Ile)
|
rs1659160002
|
|
NM_002529.4(NTRK1):c.1579G>C (p.Ala527Pro)
|
|
|
NM_002539.3(ODC1):c.661A>G (p.Met221Val)
|
|
|
NM_002544.5(OMG):c.151T>C (p.Ser51Pro)
|
|
|
NM_002547.3(OPHN1):c.1025+13G>A
|
|
|
NM_002578.5(PAK3):c.1520G>A (p.Arg507Gln)
|
|
|
NM_002598.4(PDCD2):c.101G>C (p.Arg34Pro)
|
rs1001626835
|
|
NM_002608.4(PDGFB):c.313G>A (p.Glu105Lys)
|
|
|
NM_002609.4(PDGFRB):c.1762C>T (p.Pro588Ser)
|
|
|
NM_002609.4(PDGFRB):c.2029A>G (p.Ile677Val)
|
|
|
NM_002617.4(PEX10):c.203C>A (p.Thr68Asn)
|
rs2100430231
|
|
NM_002617.4(PEX10):c.21C>A (p.Ser7Arg)
|
rs1296095268
|
|
NM_002618.4(PEX13):c.1117C>T (p.Gln373Ter)
|
|
|
NM_002633.3(PGM1):c.170T>C (p.Leu57Pro)
|
|
|
NM_002637.4(PHKA1):c.1245+4A>C
|
|
|
NM_002637.4(PHKA1):c.2526G>A (p.Glu842=)
|
|
|
NM_002637.4(PHKA1):c.3389C>T (p.Ala1130Val)
|
rs2147639170
|
|
NM_002641.4(PIGA):c.1201G>A (p.Val401Ile)
|
rs759697480
|
|
NM_002641.4(PIGA):c.424G>A (p.Ala142Thr)
|
rs1569179995
|
|
NM_002655.3(PLAG1):c.1373C>G (p.Pro458Arg)
|
|
|
NM_002661.5(PLCG2):c.2236-19T>G
|
rs2143686815
|
|
NM_002691.4(POLD1):c.1114G>A (p.Glu372Lys)
|
rs960226186
|
|
NM_002691.4(POLD1):c.1226G>C (p.Arg409Pro)
|
rs749611798
|
|
NM_002691.4(POLD1):c.2872C>G (p.Leu958Val)
|
|
|
NM_002691.4(POLD1):c.463+6T>G
|
rs759315897
|
|
NM_002691.4(POLD1):c.574C>G (p.Leu192Val)
|
rs374937343
|
|
NM_002691.4(POLD1):c.835_837del (p.Glu279del)
|
rs746341854
|
|
NM_002691.4(POLD1):c.898_899delinsTT (p.Pro300Leu)
|
rs1060501821
|
|
NM_002693.3(POLG):c.1491G>C (p.Gln497His)
|
rs121918052
|
|
NM_002693.3(POLG):c.1716G>T (p.Trp572Cys)
|
|
|
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp)
|
rs371334941
|
|
NM_002693.3(POLG):c.1822G>A (p.Asp608Asn)
|
|
|
NM_002693.3(POLG):c.2244G>T (p.Trp748Cys)
|
|
|
NM_002693.3(POLG):c.2263A>C (p.Lys755Gln)
|
|
|
NM_002693.3(POLG):c.2308T>C (p.Phe770Leu)
|
|
|
NM_002693.3(POLG):c.2341G>A (p.Ala781Thr)
|
|
|
NM_002693.3(POLG):c.235C>T (p.Leu79Phe)
|
|
|
NM_002693.3(POLG):c.2440G>A (p.Val814Met)
|
|
|
NM_002693.3(POLG):c.2862C>G (p.Ile954Met)
|
rs2152060967
|
|
NM_002693.3(POLG):c.2963CCA[3] (p.Thr989_Lys990insThr)
|
|
|
NM_002693.3(POLG):c.3311C>T (p.Ser1104Phe)
|
|
|
NM_002693.3(POLG):c.3356T>C (p.Leu1119Pro)
|
rs2152058721
|
|
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys)
|
rs767138032
|
|
NM_002693.3(POLG):c.3544G>A (p.Ala1182Thr)
|
rs1481381913
|
|
NM_002693.3(POLG):c.394G>A (p.Gly132Arg)
|
|
|
NM_002693.3(POLG):c.394G>C (p.Gly132Arg)
|
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
NM_002693.3(POLG):c.970C>A (p.Pro324Thr)
|
rs2307437
|
|
NM_002709.3(PPP1CB):c.744+8A>G
|
|
|
NM_002715.4(PPP2CA):c.312+23G>T
|
|
|
NM_002734.5(PRKAR1A):c.1051G>A (p.Asp351Asn)
|
|
|
NM_002734.5(PRKAR1A):c.1110C>A (p.Ile370=)
|
rs62638722
|
|
NM_002734.5(PRKAR1A):c.1133C>A (p.Ser378Ter)
|
|
|
NM_002734.5(PRKAR1A):c.1133C>T (p.Ser378Leu)
|
rs1568703465
|
|
NM_002734.5(PRKAR1A):c.441-5del
|
rs777677808
|
|
NM_002734.5(PRKAR1A):c.441-6T>C
|
rs1340450132
|
|
NM_002734.5(PRKAR1A):c.47G>A (p.Arg16Gln)
|
rs2085401218
|
|
NM_002734.5(PRKAR1A):c.550-6C>T
|
rs1555814031
|
|
NM_002734.5(PRKAR1A):c.791G>A (p.Arg264His)
|
rs1303569195
|
|
NM_002734.5(PRKAR1A):c.917G>A (p.Arg306Gln)
|
rs1568702564
|
|
NM_002739.5(PRKCG):c.-12G>T
|
|
|
NM_002739.5(PRKCG):c.263C>T (p.Ala88Val)
|
rs2068615098
|
|
NM_002739.5(PRKCG):c.382G>C (p.Gly128Arg)
|
rs1568752939
|
|
NM_002739.5(PRKCG):c.518T>G (p.Ile173Ser)
|
|
|
NM_002739.5(PRKCG):c.687-6C>T
|
|
|
NM_002742.3(PRKD1):c.1270A>G (p.Met424Val)
|
|
|
NM_002742.3(PRKD1):c.1570G>A (p.Val524Ile)
|
|
|
NM_002745.5(MAPK1):c.679A>G (p.Ile227Val)
|
|
|
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe)
|
rs397516789
|
|
NM_002755.4(MAP2K1):c.140G>A (p.Arg47Gln)
|
rs1567009054
|
|
NM_002755.4(MAP2K1):c.291+14_291+19delinsTCTCAC
|
|
|
NM_002755.4(MAP2K1):c.29A>T (p.Gln10Leu)
|
rs2093343985
|
|
NM_002755.4(MAP2K1):c.519A>T (p.Val173=)
|
rs1471931068
|
|
NM_002755.4(MAP2K1):c.568+6A>G
|
rs1430324310
|
|
NM_002755.4(MAP2K1):c.586A>G (p.Ile196Val)
|
rs2140667372
|
|
NM_002755.4(MAP2K1):c.794_860dup (p.Pro287_Pro288insSerArgCysGlnGlyAlaGlyAlaAspValTrpValProGlyGlyArgArgCysGlyTer)
|
rs1893005622
|
|
NM_002755.4(MAP2K1):c.802G>A (p.Ala268Thr)
|
rs1555420656
|
|
NM_002755.4(MAP2K1):c.961-61_997dup
|
rs1893152621
|
|
NM_002755.4(MAP2K1):c.970A>C (p.Lys324Gln)
|
rs762436311
|
|
NM_002768.5(CHMP1A):c.160C>T (p.Arg54Cys)
|
|
|
NM_002768.5(CHMP1A):c.202C>T (p.Arg68Cys)
|
|
|
NM_002768.5(CHMP1A):c.570-1G>C
|
rs2059771358
|
|
NM_002769.4(PRSS1):c.-28_-8del21
|
rs755789680
|
|
NM_002769.5(PRSS1):c.-10C>A
|
|
|
NM_002769.5(PRSS1):c.1A>G (p.Met1Val)
|
|
|
NM_002769.5(PRSS1):c.1A>T (p.Met1Leu)
|
|
|
NM_002769.5(PRSS1):c.313A>G (p.Asn105Asp)
|
|
|
NM_002769.5(PRSS1):c.325A>C (p.Met109Leu)
|
|
|
NM_002769.5(PRSS1):c.347G>A (p.Arg116His)
|
rs199769221
|
|
NM_002769.5(PRSS1):c.386C>T (p.Pro129Leu)
|
rs768673799
|
|
NM_002769.5(PRSS1):c.40+15C>T
|
rs760370254
|
|
NM_002769.5(PRSS1):c.454+3G>T
|
rs375996400
|
|
NM_002769.5(PRSS1):c.468C>G (p.Asp156Glu)
|
|
|
NM_002769.5(PRSS1):c.469G>C (p.Glu157Gln)
|
rs200890507
|
|
NM_002769.5(PRSS1):c.50C>A (p.Pro17His)
|
|
|
NM_002769.5(PRSS1):c.50C>T (p.Pro17Leu)
|
rs776401461
|
|
NM_002769.5(PRSS1):c.592-4C>G
|
rs375342697
|
|
NM_002769.5(PRSS1):c.614T>C (p.Val205Ala)
|
rs747422004
|
|
NM_002769.5(PRSS1):c.651_652delinsCT (p.Asp218Tyr)
|
rs1554499629
|
|
NM_002769.5(PRSS1):c.659G>A (p.Cys220Tyr)
|
|
|
NM_002769.5(PRSS1):c.694G>T (p.Val232Phe)
|
|
|
NM_002775.5(HTRA1):c.517G>T (p.Ala173Ser)
|
rs781563777
|
|
NM_002778.4(PSAP):c.1467G>T (p.Leu489Phe)
|
|
|
NM_002778.4(PSAP):c.589G>T (p.Val197Phe)
|
|
|
NM_002816.5(PSMD12):c.1104G>T (p.Lys368Asn)
|
rs1388460098
|
|
NM_002816.5(PSMD12):c.166A>G (p.Thr56Ala)
|
|
|
NM_002834.5(PTPN11):c.-13G>A
|
rs760374212
|
|
NM_002834.5(PTPN11):c.-7G>A
|
|
|
NM_002834.5(PTPN11):c.1093A>C (p.Ser365Arg)
|
rs1566183223
|
|
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe)
|
rs1566164987
|
|
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly)
|
rs397509344
|
|
NM_002834.5(PTPN11):c.1495T>A (p.Ser499Thr)
|
rs1566186813
|
|
NM_002834.5(PTPN11):c.1496C>T (p.Ser499Phe)
|
|
|
NM_002834.5(PTPN11):c.1499A>G (p.Gln500Arg)
|
rs1173984843
|
|
NM_002834.5(PTPN11):c.1660A>G (p.Ser554Gly)
|
rs2135928795
|
|
NM_002834.5(PTPN11):c.1669C>A (p.Gln557Lys)
|
rs1024227490
|
|
NM_002834.5(PTPN11):c.318T>A (p.Asp106Glu)
|
|
|
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)
|
rs397507519
|
|
NM_002834.5(PTPN11):c.561T>G (p.Phe187Leu)
|
rs2135869491
|
|
NM_002834.5(PTPN11):c.562G>A (p.Asp188Asn)
|
rs1555267939
|
|
NM_002834.5(PTPN11):c.652A>G (p.Thr218Ala)
|
rs768555552
|
|
NM_002834.5(PTPN11):c.853+4A>C
|
|
|
NM_002834.5(PTPN11):c.862A>G (p.Thr288Ala)
|
rs2135900982
|
|
NM_002834.5(PTPN11):c.880G>A (p.Asp294Asn)
|
|
|
NM_002834.5(PTPN11):c.971A>G (p.Lys324Arg)
|
rs772684421
|
|
NM_002838.5(PTPRC):c.1526G>A (p.Arg509Lys)
|
rs749379347
|
|
NM_002838.5(PTPRC):c.1864+4_1864+7del
|
rs773117955
|
|
NM_002857.4(PEX19):c.152_155delinsG (p.Gln51_Lys52delinsArg)
|
rs2101805710
|
|
NM_002860.4(ALDH18A1):c.2051C>A (p.Ala684Asp)
|
|
|
NM_002863.5(PYGL):c.806A>G (p.Asp269Gly)
|
rs557868018
|
|
NM_002878.4(RAD51D):c.-7G>A
|
rs553444507
|
|
NM_002878.4(RAD51D):c.131G>C (p.Gly44Ala)
|
rs374730714
|
|
NM_002878.4(RAD51D):c.137C>T (p.Ser46Phe)
|
|
|
NM_002878.4(RAD51D):c.14G>A (p.Arg5Lys)
|
rs2091799333
|
|
NM_002878.4(RAD51D):c.163C>T (p.Arg55Trp)
|
rs775268017
|
|
NM_002878.4(RAD51D):c.16G>C (p.Val6Leu)
|
rs368198698
|
|
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu)
|
rs561425038
|
|
NM_002878.4(RAD51D):c.256A>T (p.Ile86Phe)
|
rs587782063
|
|
NM_002878.4(RAD51D):c.283G>A (p.Ala95Thr)
|
rs1567728746
|
|
NM_002878.4(RAD51D):c.325C>T (p.Pro109Ser)
|
rs2091620469
|
|
NM_002878.4(RAD51D):c.488C>T (p.Ala163Val)
|
rs775176916
|
|
NM_002878.4(RAD51D):c.620C>G (p.Ser207Trp)
|
rs370228071
|
|
NM_002878.4(RAD51D):c.629C>A (p.Ala210Glu)
|
rs376855484
|
|
NM_002878.4(RAD51D):c.669C>G (p.Gly223=)
|
rs1567726315
|
|
NM_002878.4(RAD51D):c.769A>G (p.Ser257Gly)
|
rs1567724999
|
|
NM_002878.4(RAD51D):c.806G>A (p.Ser269Asn)
|
rs876658762
|
|
NM_002878.4(RAD51D):c.82+5_82+13delinsT
|
rs2091796708
|
|
NM_002878.4(RAD51D):c.82+8_82+15del
|
rs1321571652
|
|
NM_002878.4(RAD51D):c.842T>C (p.Ile281Thr)
|
rs1060502957
|
|
NM_002878.4(RAD51D):c.904-12TTC[2]
|
rs779850240
|
|
NM_002880.4(RAF1):c.1144C>T (p.Pro382Ser)
|
rs1575546471
|
|
NM_002880.4(RAF1):c.1193+13C>T
|
|
|
NM_002880.4(RAF1):c.1194-17TCCCC[2]
|
rs2058496555
|
|
NM_002880.4(RAF1):c.1483C>T (p.Arg495Cys)
|
|
|
NM_002880.4(RAF1):c.1613T>C (p.Leu538Ser)
|
rs730881011
|
|
NM_002880.4(RAF1):c.1673T>C (p.Ile558Thr)
|
rs1559399152
|
|
NM_002880.4(RAF1):c.1720_1760dup (p.Asp587_Cys588insIleArgThrAlaProLysGlnTer)
|
rs2058275378
|
|
NM_002880.4(RAF1):c.1724A>C (p.Lys575Thr)
|
rs767890715
|
|
NM_002880.4(RAF1):c.1842G>A (p.Pro614=)
|
rs200235582
|
|
NM_002880.4(RAF1):c.1927C>T (p.Pro643Ser)
|
rs876657967
|
|
NM_002880.4(RAF1):c.207+10C>T
|
rs2059446210
|
|
NM_002880.4(RAF1):c.321-4delinsTG
|
rs2125421173
|
|
NM_002880.4(RAF1):c.325_327del (p.Lys109del)
|
rs1418886913
|
|
NM_002880.4(RAF1):c.68_70del (p.Asp23del)
|
rs749549707
|
|
NM_002880.4(RAF1):c.784A>C (p.Asn262His)
|
rs1575573204
|
|
NM_002880.4(RAF1):c.837T>A (p.Asp279Glu)
|
rs2125381916
|
|
NM_002880.4(RAF1):c.991-17A>G
|
|
|
NM_002894.3(RBBP8):c.1486del (p.Arg496fs)
|
|
|
NM_002905.5(RDH5):c.124C>T (p.Arg42Cys)
|
|
|
NM_002936.6(RNASEH1):c.510-2A>G
|
|
|
NM_002941.4(ROBO1):c.1832C>A (p.Ala611Glu)
|
|
|
NM_002972.4(SBF1):c.279+3C>T
|
|
|
NM_002972.4(SBF1):c.4025C>T (p.Pro1342Leu)
|
|
|
NM_002972.4(SBF1):c.5443A>G (p.Lys1815Glu)
|
|
|
NM_003000.3(SDHB):c.541-8_541-7delinsAG
|
|
|
NM_003000.3(SDHB):c.612C>G (p.Asp204Glu)
|
rs1553177433
|
|
NM_003000.3(SDHB):c.642G>C (p.Gln214His)
|
rs1278834014
|
|
NM_003011.4(SET):c.664-6_664-4del
|
|
|
NM_003036.4(SKI):c.2167G>C (p.Ala723Pro)
|
|
|
NM_003036.4(SKI):c.969+10C>T
|
|
|
NM_003042.4(SLC6A1):c.1366A>T (p.Ser456Cys)
|
rs1697893468
|
|
NM_003051.4(SLC16A1):c.590C>G (p.Pro197Arg)
|
|
|
NM_003051.4(SLC16A1):c.629C>G (p.Ser210Cys)
|
|
|
NM_003059.3(SLC22A4):c.393+1G>A
|
|
|
NM_003060.4(SLC22A5):c.428C>A (p.Pro143Gln)
|
|
|
NM_003060.4(SLC22A5):c.47C>T (p.Pro16Leu)
|
|
|
NM_003070.5(SMARCA2):c.1534G>A (p.Glu512Lys)
|
rs1820557172
|
|
NM_003070.5(SMARCA2):c.1692+3G>C
|
|
|
NM_003070.5(SMARCA2):c.2392T>G (p.Ser798Ala)
|
|
|
NM_003070.5(SMARCA2):c.2844G>T (p.Arg948Ser)
|
|
|
NM_003070.5(SMARCA2):c.4344T>G (p.Asp1448Glu)
|
|
|
NM_003072.5(SMARCA4):c.2559C>A (p.Phe853Leu)
|
|
|
NM_003072.5(SMARCA4):c.3067G>A (p.Glu1023Lys)
|
rs1555780047
|
|
NM_003073.5(SMARCB1):c.1127G>C (p.Arg376Thr)
|
|
|
NM_003073.5(SMARCB1):c.433G>A (p.Val145Met)
|
rs1601401880
|
|
NM_003073.5(SMARCB1):c.538G>T (p.Ala180Ser)
|
|
|
NM_003079.5(SMARCE1):c.1070G>A (p.Gly357Asp)
|
rs2143980805
|
|
NM_003079.5(SMARCE1):c.541+8A>G
|
rs1478738793
|
|
NM_003098.3(SNTA1):c.1498del (p.Arg500fs)
|
rs1568745571
|
|
NM_003098.3(SNTA1):c.256C>T (p.Arg86Cys)
|
|
|
NM_003098.3(SNTA1):c.869G>A (p.Gly290Glu)
|
|
|
NM_003104.6(SORD):c.950del (p.Asn317fs)
|
|
|
NM_003107.3(SOX4):c.1001C>G (p.Pro334Arg)
|
rs905546274
|
|
NM_003107.3(SOX4):c.1054G>A (p.Gly352Ser)
|
|
|
NM_003107.3(SOX4):c.1135_1137delinsGCG (p.Ser379Ala)
|
rs2113558606
|
|
NM_003108.4(SOX11):c.1007C>T (p.Ser336Leu)
|
|
|
NM_003108.4(SOX11):c.235A>C (p.Ile79Leu)
|
rs1665660680
|
|
NM_003108.4(SOX11):c.641G>C (p.Gly214Ala)
|
|
|
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)
|
rs368373840
|
|
NM_003119.4(SPG7):c.124C>T (p.Pro42Ser)
|
|
|
NM_003119.4(SPG7):c.1598C>T (p.Ala533Val)
|
|
|
NM_003119.4(SPG7):c.1636G>A (p.Glu546Lys)
|
|
|
NM_003119.4(SPG7):c.1730G>C (p.Gly577Ala)
|
rs1329063851
|
|
NM_003119.4(SPG7):c.1931C>A (p.Thr644Asn)
|
|
|
NM_003119.4(SPG7):c.2051_2052delinsAC (p.Met684Asn)
|
|
|
NM_003119.4(SPG7):c.2052G>C (p.Met684Ile)
|
|
|
NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)
|
|
|
NM_003119.4(SPG7):c.2365G>T (p.Glu789Ter)
|
rs372033226
|
|
NM_003119.4(SPG7):c.2379del (p.Trp793fs)
|
|
|
NM_003119.4(SPG7):c.2T>A (p.Met1Lys)
|
rs1332265538
|
|
NM_003119.4(SPG7):c.698T>C (p.Leu233Pro)
|
|
|
NM_003119.4(SPG7):c.740G>A (p.Arg247Gln)
|
|
|
NM_003119.4(SPG7):c.82G>A (p.Ala28Thr)
|
|
|
NM_003128.3(SPTBN1):c.2168G>A (p.Arg723Gln)
|
|
|
NM_003128.3(SPTBN1):c.220C>T (p.Arg74Trp)
|
|
|
NM_003128.3(SPTBN1):c.4166G>A (p.Cys1389Tyr)
|
|
|
NM_003128.3(SPTBN1):c.5595G>C (p.Glu1865Asp)
|
|
|
NM_003128.3(SPTBN1):c.6920C>A (p.Ser2307Tyr)
|
|
|
NM_003128.3(SPTBN1):c.890C>G (p.Ala297Gly)
|
rs1678045192
|
|
NM_003172.4(SURF1):c.17C>A (p.Ala6Glu)
|
rs587727919
|
|
NM_003172.4(SURF1):c.211G>T (p.Val71Leu)
|
rs147993882
|
|
NM_003172.4(SURF1):c.55-5C>T
|
|
|
NM_003172.4(SURF1):c.551G>A (p.Arg184Lys)
|
|
|
NM_003172.4(SURF1):c.584G>T (p.Gly195Val)
|
|
|
NM_003172.4(SURF1):c.737T>C (p.Ile246Thr)
|
|
|
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup)
|
rs782488388
|
|
NM_003177.7(SYK):c.1448A>G (p.Lys483Arg)
|
|
|
NM_003179.3(SYP):c.109G>A (p.Ala37Thr)
|
|
|
NM_003179.3(SYP):c.61G>C (p.Val21Leu)
|
|
|
NM_003184.4(TAF2):c.2654A>G (p.Asp885Gly)
|
rs1820999112
|
|
NM_003185.4(TAF4):c.16G>A (p.Asp6Asn)
|
|
|
NM_003185.4(TAF4):c.2060C>T (p.Ser687Leu)
|
|
|
NM_003193.5(TBCE):c.2T>A (p.Met1Lys)
|
|
|
NM_003221.4(TFAP2B):c.545T>C (p.Val182Ala)
|
|
|
NM_003227.4(TFR2):c.1235A>T (p.Asn412Ile)
|
|
|
NM_003227.4(TFR2):c.2176G>A (p.Asp726Asn)
|
|
|
NM_003235.5(TG):c.3040G>A (p.Asp1014Asn)
|
|
|
NM_003235.5(TG):c.7997G>A (p.Gly2666Glu)
|
|
|
NM_003238.6(TGFB2):c.1129T>C (p.Ser377Pro)
|
|
|
NM_003238.6(TGFB2):c.346+16375G>A
|
|
|
NM_003238.6(TGFB2):c.355C>T (p.Pro119Ser)
|
|
|
NM_003238.6(TGFB2):c.387T>G (p.Ile129Met)
|
|
|
NM_003238.6(TGFB2):c.59G>C (p.Ser20Thr)
|
|
|
NM_003238.6(TGFB2):c.754+4A>G
|
|
|
NM_003238.6(TGFB2):c.917C>T (p.Ala306Val)
|
|
|
NM_003239.5(TGFB3):c.1184C>A (p.Thr395Asn)
|
|
|
NM_003239.5(TGFB3):c.1214T>C (p.Val405Ala)
|
rs774909501
|
|
NM_003239.5(TGFB3):c.353-4C>G
|
|
|
NM_003239.5(TGFB3):c.876C>T (p.Gly292=)
|
|
|
NM_003239.5(TGFB3):c.883G>A (p.Gly295Ser)
|
|
|
NM_003239.5(TGFB3):c.96C>A (p.Phe32Leu)
|
rs748977151
|
|
NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn)
|
rs984098699
|
|
NM_003242.6(TGFBR2):c.1152T>A (p.Asn384Lys)
|
rs193922661
|
|
NM_003242.6(TGFBR2):c.1163A>G (p.Lys388Arg)
|
rs193922662
|
|
NM_003242.6(TGFBR2):c.1273A>C (p.Met425Leu)
|
rs104893817
|
|
NM_003242.6(TGFBR2):c.1340T>A (p.Val447Asp)
|
rs1575158992
|
|
NM_003242.6(TGFBR2):c.1397-157_1397-153del
|
rs1279882821
|
|
NM_003242.6(TGFBR2):c.1441C>T (p.His481Tyr)
|
rs762756916
|
|
NM_003242.6(TGFBR2):c.1514T>C (p.Leu505Pro)
|
rs2125452246
|
|
NM_003242.6(TGFBR2):c.1525-15_1576dup
|
|
|
NM_003242.6(TGFBR2):c.437A>T (p.Asn146Ile)
|
rs863223836
|
|
NM_003242.6(TGFBR2):c.699C>A (p.Asn233Lys)
|
|
|
NM_003242.6(TGFBR2):c.[1152T>A;1163A>G]
|
|
|
NM_003280.3(TNNC1):c.-7C>A
|
|
|
NM_003280.3(TNNC1):c.285G>T (p.Glu95Asp)
|
rs2153229927
|
|
NM_003280.3(TNNC1):c.317+6C>G
|
rs2153229925
|
|
NM_003280.3(TNNC1):c.454+16G>A
|
|
|
NM_003285.3(TNR):c.2039T>C (p.Met680Thr)
|
|
|
NM_003289.4(TPM2):c.773-3_773-2insCA
|
|
|
NM_003322.6(TULP1):c.1246C>T (p.Arg416Cys)
|
rs200769197
|
|
NM_003383.5(VLDLR):c.103C>G (p.Pro35Ala)
|
rs2130778088
|
|
NM_003384.3(VRK1):c.1144_1145insCTCG (p.Glu382fs)
|
|
|
NM_003403.5(YY1):c.221_241del (p.His74_His80del)
|
|
|
NM_003412.4(ZIC1):c.1097T>A (p.Met366Lys)
|
rs1189648689
|
|
NM_003412.4(ZIC1):c.314G>C (p.Arg105Pro)
|
|
|
NM_003412.4(ZIC1):c.679T>C (p.Cys227Arg)
|
rs2107993157
|
|
NM_003470.3(USP7):c.1838T>C (p.Met613Thr)
|
|
|
NM_003470.3(USP7):c.987+14del
|
|
|
NM_003476.5(CSRP3):c.118T>G (p.Cys40Gly)
|
|
|
NM_003476.5(CSRP3):c.509-20C>T
|
|
|
NM_003477.3(PDHX):c.1432G>C (p.Val478Leu)
|
|
|
NM_003477.3(PDHX):c.250G>A (p.Val84Met)
|
|
|
NM_003477.3(PDHX):c.28G>T (p.Asp10Tyr)
|
rs2133931933
|
|
NM_003477.3(PDHX):c.474G>T (p.Glu158Asp)
|
rs148723565
|
|
NM_003477.3(PDHX):c.798_800delinsCGGACAACCCAATGCAGTGGTAGTGT (p.Gly273fs)
|
|
|
NM_003480.4(MFAP5):c.136C>T (p.Pro46Ser)
|
|
|
NM_003482.4(KMT2D):c.1099C>T (p.Pro367Ser)
|
|
|
NM_003482.4(KMT2D):c.12349G>A (p.Gly4117Arg)
|
|
|
NM_003482.4(KMT2D):c.12737C>T (p.Pro4246Leu)
|
|
|
NM_003482.4(KMT2D):c.3317C>G (p.Pro1106Arg)
|
|
|
NM_003482.4(KMT2D):c.3412G>A (p.Gly1138Arg)
|
|
|
NM_003482.4(KMT2D):c.4901C>T (p.Ala1634Val)
|
|
|
NM_003482.4(KMT2D):c.5441G>A (p.Arg1814Lys)
|
|
|
NM_003482.4(KMT2D):c.6457C>T (p.Pro2153Ser)
|
|
|
NM_003482.4(KMT2D):c.7445G>C (p.Gly2482Ala)
|
|
|
NM_003489.4(NRIP1):c.3465_3468del (p.Lys1155fs)
|
|
|
NM_003491.4(NAA10):c.287G>A (p.Arg96Gln)
|
|
|
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs)
|
rs34391522
|
|
NM_003560.4(PLA2G6):c.1258G>A (p.Gly420Arg)
|
|
|
NM_003560.4(PLA2G6):c.1288C>T (p.Pro430Ser)
|
|
|
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn)
|
rs1555988382
|
|
NM_003560.4(PLA2G6):c.1511C>T (p.Ser504Leu)
|
|
|
NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)
|
|
|
NM_003560.4(PLA2G6):c.1630A>C (p.Met544Leu)
|
|
|
NM_003560.4(PLA2G6):c.2159C>T (p.Thr720Ile)
|
|
|
NM_003560.4(PLA2G6):c.343C>T (p.Arg115Cys)
|
rs995653548
|
|
NM_003560.4(PLA2G6):c.419TCA[1] (p.Ile141del)
|
|
|
NM_003560.4(PLA2G6):c.671T>C (p.Leu224Pro)
|
rs2145803751
|
|
NM_003560.4(PLA2G6):c.692G>T (p.Gly231Val)
|
|
|
NM_003560.4(PLA2G6):c.920G>A (p.Gly307Asp)
|
|
|
NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup)
|
rs797045889
|
|
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn)
|
rs199935023
|
|
NM_003611.3(OFD1):c.2119C>T (p.Leu707Phe)
|
|
|
NM_003611.3(OFD1):c.2261-6C>T
|
|
|
NM_003611.3(OFD1):c.2758-2A>T
|
|
|
NM_003619.4(PRSS12):c.1413_1416dup (p.His473fs)
|
rs752784904
|
|
NM_003619.4(PRSS12):c.1843C>T (p.Leu615Phe)
|
|
|
NM_003619.4(PRSS12):c.1888C>T (p.Arg630Trp)
|
|
|
NM_003619.4(PRSS12):c.1917-1G>C
|
|
|
NM_003619.4(PRSS12):c.2116G>T (p.Glu706Ter)
|
|
|
NM_003619.4(PRSS12):c.450C>A (p.Phe150Leu)
|
|
|
NM_003619.4(PRSS12):c.718C>T (p.Arg240Ter)
|
|
|
NM_003620.4(PPM1D):c.1379A>C (p.Asn460Thr)
|
|
|
NM_003620.4(PPM1D):c.472+18T>C
|
|
|
NM_003632.3(CNTNAP1):c.1457-6C>T
|
|
|
NM_003640.5(ELP1):c.1189+20G>A
|
rs999307275
|
|
NM_003640.5(ELP1):c.2066G>A (p.Arg689Gln)
|
|
|
NM_003640.5(ELP1):c.2528A>G (p.His843Arg)
|
rs1828577961
|
|
NM_003640.5(ELP1):c.2908T>A (p.Leu970Met)
|
rs180931232
|
|
NM_003640.5(ELP1):c.3572+5G>A
|
rs773132143
|
|
NM_003640.5(ELP1):c.575_579delinsGG (p.Asp192_Asp193delinsGly)
|
|
|
NM_003647.3(DGKE):c.233C>G (p.Ala78Gly)
|
rs775804689
|
|
NM_003647.3(DGKE):c.41A>G (p.Glu14Gly)
|
|
|
NM_003659.4(AGPS):c.1697+2T>C
|
rs2105726638
|
|
NM_003659.4(AGPS):c.49_54dup (p.Ala17_Ser18dup)
|
rs771730798
|
|
NM_003659.4(AGPS):c.709+4G>C
|
|
|
NM_003659.4(AGPS):c.71A>T (p.Asp24Val)
|
rs2105576037
|
|
NM_003659.4(AGPS):c.77A>T (p.Asp26Val)
|
rs2105576052
|
|
NM_003659.4(AGPS):c.89A>T (p.Asp30Val)
|
rs1685058706
|
|
NM_003664.5(AP3B1):c.1928C>T (p.Ala643Val)
|
|
|
NM_003664.5(AP3B1):c.2890T>G (p.Leu964Val)
|
rs750377910
|
|
NM_003664.5(AP3B1):c.2968_2969delinsTT (p.Glu990Leu)
|
rs2112065832
|
|
NM_003664.5(AP3B1):c.3090del (p.Asn1031fs)
|
|
|
NM_003664.5(AP3B1):c.751T>C (p.Tyr251His)
|
|
|
NM_003673.4(TCAP):c.184C>T (p.Gln62Ter)
|
|
|
NM_003673.4(TCAP):c.341A>G (p.Gln114Arg)
|
rs1355624192
|
|
NM_003673.4(TCAP):c.428T>C (p.Val143Ala)
|
rs2145074575
|
|
NM_003701.4(TNFSF11):c.350G>A (p.Arg117Lys)
|
rs2137867049
|
|
NM_003718.5(CDK13):c.1148C>T (p.Ser383Phe)
|
|
|
NM_003718.5(CDK13):c.1702A>C (p.Ser568Arg)
|
|
|
NM_003718.5(CDK13):c.2544-16G>A
|
|
|
NM_003718.5(CDK13):c.2912C>T (p.Ala971Val)
|
rs751856305
|
|
NM_003718.5(CDK13):c.3092T>C (p.Met1031Thr)
|
|
|
NM_003718.5(CDK13):c.4303G>A (p.Ala1435Thr)
|
|
|
NM_003719.5(PDE8B):c.671C>T (p.Ala224Val)
|
|
|
NM_003722.5(TP63):c.587C>G (p.Thr196Ser)
|
|
|
NM_003730.6(RNASET2):c.394AAG[1] (p.Lys133del)
|
|
|
NM_003737.4(DCHS1):c.22G>C (p.Val8Leu)
|
|
|
NM_003737.4(DCHS1):c.8308C>T (p.Arg2770Ter)
|
|
|
NM_003738.5(PTCH2):c.2900_2917dup (p.Leu972_Val973insAlaValCysIleLeuLeu)
|
|
|
NM_003742.4(ABCB11):c.1145C>G (p.Ala382Gly)
|
|
|
NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)
|
|
|
NM_003742.4(ABCB11):c.1213T>C (p.Cys405Arg)
|
|
|
NM_003742.4(ABCB11):c.1435-13_1435-8del
|
rs748716950
|
|
NM_003742.4(ABCB11):c.1487A>T (p.Asp496Val)
|
|
|
NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser)
|
rs886043807
|
|
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
|
|
|
NM_003742.4(ABCB11):c.335T>C (p.Ile112Thr)
|
|
|
NM_003742.4(ABCB11):c.936G>T (p.Gln312His)
|
rs770497192
|
|
NM_003745.2(SOCS1):c.139G>A (p.Ala47Thr)
|
|
|
NM_003748.4(ALDH4A1):c.1505G>A (p.Gly502Asp)
|
|
|
NM_003748.4(ALDH4A1):c.1567del (p.Ala523fs)
|
|
|
NM_003754.3(EIF3F):c.523del (p.Thr175fs)
|
|
|
NM_003846.3(PEX11B):c.544G>A (p.Gly182Ser)
|
rs1559221717
|
|
NM_003859.3(DPM1):c.1A>G (p.Met1Val)
|
rs139624629
|
|
NM_003863.4(DPM2):c.139del (p.Arg47fs)
|
rs1831509811
|
|
NM_003865.3(HESX1):c.-7C>A
|
|
|
NM_003895.4(SYNJ1):c.-5G>T
|
|
|
NM_003900.5(SQSTM1):c.436C>T (p.Pro146Ser)
|
|
|
NM_003907.3(EIF2B5):c.1543T>G (p.Trp515Gly)
|
|
|
NM_003907.3(EIF2B5):c.2059C>T (p.Gln687Ter)
|
|
|
NM_003920.5(TIMELESS):c.1413T>G (p.Asn471Lys)
|
|
|
NM_003922.4(HERC1):c.125T>C (p.Val42Ala)
|
|
|
NM_003922.4(HERC1):c.8981_9024delinsTTCAATCAGCACATGAAGAGAAACCATCCAGGCTGTGGGCG (p.His2994_Arg3008delinsLeuGlnSerAlaHisGluGluLysProSerArgLeuTrpAla)
|
|
|
NM_003923.3(FOXH1):c.584G>T (p.Gly195Val)
|
|
|
NM_003931.3(WASF1):c.540+16A>T
|
|
|
NM_003937.3(KYNU):c.735T>G (p.Cys245Trp)
|
|
|
NM_003982.4(SLC7A7):c.1533_1536del (p.Asn511fs)
|
|
|
NM_003982.4(SLC7A7):c.571A>G (p.Lys191Glu)
|
rs386833820
|
|
NM_003982.4(SLC7A7):c.737A>G (p.Asn246Ser)
|
|
|
NM_003995.4(NPR2):c.2316C>G (p.Asp772Glu)
|
|
|
NM_003995.4(NPR2):c.482A>G (p.Asn161Ser)
|
|
|
NM_003999.3(OSMR):c.1286-3C>T
|
|
|
NM_003999.3(OSMR):c.1927C>G (p.Leu643Val)
|
|
|
NM_004004.6(GJB2):c.-12C>T
|
rs1959064381
|
|
NM_004004.6(GJB2):c.-169C>G
|
|
|
NM_004004.6(GJB2):c.-170C>G
|
rs1006263046
|
|
NM_004004.6(GJB2):c.-90A>G
|
|
|
NM_004004.6(GJB2):c.100A>T (p.Met34Leu)
|
rs564084861
|
|
NM_004004.6(GJB2):c.111_113del (p.Val38del)
|
rs1959062436
|
|
NM_004004.6(GJB2):c.191G>A (p.Cys64Tyr)
|
|
|
NM_004004.6(GJB2):c.200A>G (p.His67Arg)
|
|
|
NM_004004.6(GJB2):c.221T>C (p.Ile74Thr)
|
rs1959060919
|
|
NM_004004.6(GJB2):c.239A>G (p.Gln80Arg)
|
|
|
NM_004004.6(GJB2):c.280C>T (p.His94Tyr)
|
rs1593351383
|
|
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp)
|
rs1801002
|
|
NM_004004.6(GJB2):c.362T>C (p.Ile121Thr)
|
rs1959058587
|
|
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
|
rs111033196
|
|
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg)
|
rs878853241
|
|
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)
|
rs111033225
|
|
NM_004004.6(GJB2):c.458T>C (p.Val153Ala)
|
|
|
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn)
|
rs373684994
|
|
NM_004004.6(GJB2):c.475G>T (p.Asp159Tyr)
|
|
|
NM_004004.6(GJB2):c.557C>A (p.Thr186Lys)
|
|
|
NM_004004.6(GJB2):c.9G>T (p.Trp3Cys)
|
rs111033401
|
|
NM_004006.2:c.(1992+1_1993-1)_(4233+1_4234-1)[3]
|
|
|
NM_004006.3(DMD):c.-164_-132del
|
|
|
NM_004006.3(DMD):c.10034G>A (p.Arg3345Gln)
|
|
|
NM_004006.3(DMD):c.10728_10731inv (p.Met3576_Gln3577delinsIleCys)
|
|
|
NM_004006.3(DMD):c.1098A>T (p.Gly366=)
|
rs72470507
|
|
NM_004006.3(DMD):c.187-10_187-6del
|
rs1557079581
|
|
NM_004006.3(DMD):c.2381A>G (p.Glu794Gly)
|
|
|
NM_004006.3(DMD):c.31+8C>T
|
|
|
NM_004006.3(DMD):c.3433-20GTTT[2]
|
rs771258264
|
|
NM_004006.3(DMD):c.3922-3C>T
|
rs786205603
|
|
NM_004006.3(DMD):c.3929A>C (p.Glu1310Ala)
|
rs2148194722
|
|
NM_004006.3(DMD):c.4296G>C (p.Gln1432His)
|
rs747262903
|
|
NM_004006.3(DMD):c.5068_5070del (p.His1690del)
|
rs761764494
|
|
NM_004006.3(DMD):c.5200A>G (p.Thr1734Ala)
|
rs2097842153
|
|
NM_004006.3(DMD):c.5884A>C (p.Lys1962Gln)
|
rs2097746777
|
|
NM_004006.3(DMD):c.5922+3G>C
|
rs398124000
|
|
NM_004006.3(DMD):c.6652A>G (p.Arg2218Gly)
|
rs2094863769
|
|
NM_004006.3(DMD):c.8027+19C>A
|
rs1202693482
|
|
NM_004006.3(DMD):c.8333G>A (p.Arg2778His)
|
rs2071050854
|
|
NM_004006.3(DMD):c.8391-305A>T
|
|
|
NM_004006.3(DMD):c.8582T>A (p.Val2861Glu)
|
|
|
NM_004006.3(DMD):c.8628G>A (p.Gln2876=)
|
|
|
NM_004006.3(DMD):c.9137G>A (p.Gly3046Asp)
|
rs2148491931
|
|
NM_004035.7(ACOX1):c.1789A>C (p.Thr597Pro)
|
rs2144232768
|
|
NM_004044.7(ATIC):c.688+3A>G
|
|
|
NM_004086.3(COCH):c.73G>C (p.Glu25Gln)
|
|
|
NM_004100.5(EYA4):c.1816GAA[2] (p.Glu608del)
|
rs763110500
|
|
NM_004100.5(EYA4):c.438-6A>T
|
rs1794468804
|
|
NM_004100.5(EYA4):c.806A>T (p.Asp269Val)
|
rs1562457061
|
|
NM_004104.5(FASN):c.5600_5602del (p.Gly1867del)
|
rs746627809
|
|
NM_004114.5(FGF13):c.-146508G>A
|
|
|
NM_004114.5(FGF13):c.694G>A (p.Val232Met)
|
|
|
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln)
|
rs192818312
|
|
NM_004168.4(SDHA):c.1667T>C (p.Met556Thr)
|
rs1579438769
|
|
NM_004168.4(SDHA):c.1712T>C (p.Leu571Pro)
|
rs1736817446
|
|
NM_004171.4(SLC1A2):c.1084G>A (p.Ala362Thr)
|
|
|
NM_004171.4(SLC1A2):c.508G>A (p.Asp170Asn)
|
|
|
NM_004172.5(SLC1A3):c.1290-15T>C
|
|
|
NM_004181.5(UCHL1):c.341T>A (p.Leu114Gln)
|
|
|
NM_004183.4(BEST1):c.811C>A (p.Leu271Ile)
|
rs1308281595
|
|
NM_004187.5(KDM5C):c.1951A>G (p.Met651Val)
|
|
|
NM_004187.5(KDM5C):c.2368+11G>A
|
|
|
NM_004187.5(KDM5C):c.2663G>T (p.Arg888Leu)
|
rs375850872
|
|
NM_004187.5(KDM5C):c.3120+4A>C
|
|
|
NM_004187.5(KDM5C):c.805C>G (p.Pro269Ala)
|
|
|
NM_004187.5(KDM5C):c.964-15C>T
|
|
|
NM_004208.4(AIFM1):c.680T>C (p.Val227Ala)
|
|
|
NM_004247.4(EFTUD2):c.1085C>G (p.Thr362Ser)
|
|
|
NM_004247.4(EFTUD2):c.1652T>C (p.Leu551Pro)
|
rs2145461077
|
|
NM_004247.4(EFTUD2):c.595C>T (p.Leu199Phe)
|
|
|
NM_004260.4(RECQL4):c.266G>A (p.Ser89Asn)
|
rs372648595
|
|
NM_004268.5(MED17):c.325A>C (p.Met109Leu)
|
rs144529403
|
|
NM_004268.5(MED17):c.774+3A>G
|
|
|
NM_004281.4(BAG3):c.1088A>C (p.Glu363Ala)
|
rs1345725468
|
|
NM_004281.4(BAG3):c.1135G>A (p.Gly379Ser)
|
rs886951707
|
|
NM_004281.4(BAG3):c.1318G>A (p.Asp440Asn)
|
rs878854652
|
|
NM_004281.4(BAG3):c.1496T>A (p.Ile499Asn)
|
|
|
NM_004281.4(BAG3):c.206C>T (p.Pro69Leu)
|
|
|
NM_004281.4(BAG3):c.533A>G (p.Asp178Gly)
|
|
|
NM_004304.5(ALK):c.266G>T (p.Gly89Val)
|
|
|
NM_004329.3(BMPR1A):c.1098A>C (p.Lys366Asn)
|
rs1060503397
|
|
NM_004329.3(BMPR1A):c.1102A>G (p.Ile368Val)
|
rs1589291789
|
|
NM_004329.3(BMPR1A):c.1190C>G (p.Pro397Arg)
|
rs878854662
|
|
NM_004329.3(BMPR1A):c.1280T>C (p.Met427Thr)
|
rs1843667096
|
|
NM_004329.3(BMPR1A):c.1281G>A (p.Met427Ile)
|
rs769212314
|
|
NM_004329.3(BMPR1A):c.1376A>G (p.Asn459Ser)
|
rs1564725605
|
|
NM_004329.3(BMPR1A):c.1380G>C (p.Met460Ile)
|
rs1206243685
|
|
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp)
|
rs876658515
|
|
NM_004329.3(BMPR1A):c.1457G>A (p.Arg486Gln)
|
rs752802257
|
|
NM_004329.3(BMPR1A):c.1587T>A (p.Asp529Glu)
|
rs864622175
|
|
NM_004329.3(BMPR1A):c.20A>G (p.Tyr7Cys)
|
|
|
NM_004329.3(BMPR1A):c.231-9C>T
|
rs763313220
|
|
NM_004329.3(BMPR1A):c.241C>T (p.His81Tyr)
|
rs953797046
|
|
NM_004329.3(BMPR1A):c.356G>A (p.Arg119His)
|
rs1554888965
|
|
NM_004329.3(BMPR1A):c.49A>C (p.Ile17Leu)
|
rs778886055
|
|
NM_004329.3(BMPR1A):c.530+7A>G
|
rs1060504908
|
|
NM_004329.3(BMPR1A):c.563G>T (p.Arg188Leu)
|
rs749780872
|
|
NM_004329.3(BMPR1A):c.771A>T (p.Lys257Asn)
|
|
|
NM_004329.3(BMPR1A):c.968G>A (p.Cys323Tyr)
|
rs187780646
|
|
NM_004329.3(BMPR1A):c.969_970insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTTCAGACGTGTGCTCTTCCGATCT (p.Cys323_Ala324insArgSerGluGluArgArgValGlyLysGluPheArgArgValLeuPheArgSer)
|
|
|
NM_004329.3(BMPR1A):c.986G>A (p.Arg329Lys)
|
rs1554891054
|
|
NM_004333.6(BRAF):c.1120A>G (p.Ile374Val)
|
rs397507471
|
|
NM_004333.6(BRAF):c.1151G>A (p.Arg384Lys)
|
|
|
NM_004333.6(BRAF):c.1189G>A (p.Gly397Ser)
|
|
|
NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg)
|
rs199927105
|
|
NM_004333.6(BRAF):c.121C>T (p.Pro41Ser)
|
|
|
NM_004333.6(BRAF):c.1253A>G (p.Lys418Arg)
|
|
|
NM_004333.6(BRAF):c.1256C>T (p.Ser419Phe)
|
rs2129026318
|
|
NM_004333.6(BRAF):c.1327_1388dup (p.Gly464fs)
|
rs1800883856
|
|
NM_004333.6(BRAF):c.139-16T>C
|
rs1809013029
|
|
NM_004333.6(BRAF):c.1441G>A (p.Ala481Thr)
|
|
|
NM_004333.6(BRAF):c.1518-7T>G
|
rs199745091
|
|
NM_004333.6(BRAF):c.159G>A (p.Met53Ile)
|
rs2129073763
|
|
NM_004333.6(BRAF):c.1861-5A>G
|
rs2128994669
|
|
NM_004333.6(BRAF):c.1889A>G (p.Lys630Arg)
|
rs1797604920
|
|
NM_004333.6(BRAF):c.2045G>A (p.Arg682Gln)
|
rs1796764011
|
|
NM_004333.6(BRAF):c.20G>A (p.Gly7Asp)
|
|
|
NM_004333.6(BRAF):c.2128-16_2128-6del
|
rs749903414
|
|
NM_004333.6(BRAF):c.281A>G (p.Gln94Arg)
|
rs1562985576
|
|
NM_004333.6(BRAF):c.331G>T (p.Val111Phe)
|
rs1807139980
|
|
NM_004333.6(BRAF):c.39G>C (p.Glu13Asp)
|
rs868441785
|
|
NM_004333.6(BRAF):c.608+19G>A
|
rs200908826
|
|
NM_004333.6(BRAF):c.708C>A (p.Asn236Lys)
|
rs138333692
|
|
NM_004333.6(BRAF):c.711+4T>C
|
rs1562969586
|
|
NM_004333.6(BRAF):c.826G>C (p.Val276Leu)
|
rs1057518105
|
|
NM_004333.6(BRAF):c.858T>G (p.Leu286=)
|
rs758553809
|
|
NM_004333.6(BRAF):c.980+13T>C
|
rs1802961360
|
|
NM_004341.5(CAD):c.1064A>C (p.Glu355Ala)
|
rs552009857
|
|
NM_004341.5(CAD):c.3399+5G>T
|
|
|
NM_004341.5(CAD):c.626T>A (p.Leu209Gln)
|
rs1675230102
|
|
NM_004341.5(CAD):c.736C>G (p.Arg246Gly)
|
rs772034961
|
|
NM_004360.5(CDH1):c.-2C>T
|
rs1567470707
|
|
NM_004360.5(CDH1):c.1115C>A (p.Pro372His)
|
rs1555515760
|
|
NM_004360.5(CDH1):c.1115C>T (p.Pro372Leu)
|
rs1555515760
|
|
NM_004360.5(CDH1):c.1202C>T (p.Ala401Val)
|
rs150795245
|
|
NM_004360.5(CDH1):c.125C>G (p.Pro42Arg)
|
rs876659333
|
|
NM_004360.5(CDH1):c.1296C>G (p.Asn432Lys)
|
rs187862045
|
|
NM_004360.5(CDH1):c.1320+4T>C
|
rs1567508005
|
|
NM_004360.5(CDH1):c.1321-6C>T
|
|
|
NM_004360.5(CDH1):c.1332T>A (p.Phe444Leu)
|
rs1392114487
|
|
NM_004360.5(CDH1):c.1420A>G (p.Thr474Ala)
|
rs773858736
|
|
NM_004360.5(CDH1):c.1454T>C (p.Ile485Thr)
|
rs587783049
|
|
NM_004360.5(CDH1):c.1466C>A (p.Pro489His)
|
rs766713582
|
|
NM_004360.5(CDH1):c.1514T>C (p.Ile505Thr)
|
rs1597898186
|
|
NM_004360.5(CDH1):c.1565+6T>A
|
rs587780785
|
|
NM_004360.5(CDH1):c.1565C>T (p.Thr522Ile)
|
rs863224725
|
|
NM_004360.5(CDH1):c.1566-8C>G
|
rs587780114
|
|
NM_004360.5(CDH1):c.1566-9C>A
|
rs1555516509
|
|
NM_004360.5(CDH1):c.1711+9G>C
|
rs368770384
|
|
NM_004360.5(CDH1):c.1772A>G (p.Asn591Ser)
|
rs1555516835
|
|
NM_004360.5(CDH1):c.1859C>T (p.Pro620Leu)
|
rs1555516871
|
|
NM_004360.5(CDH1):c.1914G>C (p.Trp638Cys)
|
rs1961170989
|
|
NM_004360.5(CDH1):c.1949T>C (p.Ile650Thr)
|
rs747235838
|
|
NM_004360.5(CDH1):c.1960C>A (p.Pro654Thr)
|
rs2152139271
|
|
NM_004360.5(CDH1):c.200C>G (p.Ala67Gly)
|
rs730881660
|
|
NM_004360.5(CDH1):c.2080G>A (p.Val694Ile)
|
rs587780118
|
|
NM_004360.5(CDH1):c.2101G>A (p.Val701Ile)
|
rs1426734014
|
|
NM_004360.5(CDH1):c.2137A>G (p.Ile713Val)
|
rs1289236005
|
|
NM_004360.5(CDH1):c.2168T>A (p.Leu723Gln)
|
|
|
NM_004360.5(CDH1):c.2186T>G (p.Leu729Arg)
|
|
|
NM_004360.5(CDH1):c.2227C>G (p.Pro743Ala)
|
rs786203005
|
|
NM_004360.5(CDH1):c.2231C>T (p.Pro744Leu)
|
rs1001200905
|
|
NM_004360.5(CDH1):c.2243C>G (p.Thr748Ser)
|
rs1555517660
|
|
NM_004360.5(CDH1):c.2282_2284del (p.Gly761del)
|
rs878854683
|
|
NM_004360.5(CDH1):c.2296-3A>G
|
rs113067020
|
|
NM_004360.5(CDH1):c.2333C>T (p.Ala778Val)
|
rs876659951
|
|
NM_004360.5(CDH1):c.2343A>G (p.Glu781=)
|
rs587780119
|
|
NM_004360.5(CDH1):c.2440-18_2440-10del
|
|
|
NM_004360.5(CDH1):c.2440-6C>T
|
rs139757930
|
|
NM_004360.5(CDH1):c.2531G>T (p.Ser844Ile)
|
rs1247754103
|
|
NM_004360.5(CDH1):c.2566G>A (p.Asp856Asn)
|
rs2152144092
|
|
NM_004360.5(CDH1):c.2624T>G (p.Met875Arg)
|
rs900118000
|
|
NM_004360.5(CDH1):c.281C>G (p.Pro94Arg)
|
rs1567501219
|
|
NM_004360.5(CDH1):c.286A>T (p.Ile96Phe)
|
rs749306433
|
|
NM_004360.5(CDH1):c.442G>A (p.Gly148Ser)
|
rs1567504543
|
|
NM_004360.5(CDH1):c.653A>G (p.Glu218Gly)
|
rs878854693
|
|
NM_004360.5(CDH1):c.674T>C (p.Ile225Thr)
|
rs786203207
|
|
NM_004360.5(CDH1):c.719A>G (p.Asn240Ser)
|
rs587780788
|
|
NM_004360.5(CDH1):c.833-9C>G
|
rs878854698
|
|
NM_004360.5(CDH1):c.844A>G (p.Met282Val)
|
|
|
NM_004360.5(CDH1):c.946A>G (p.Met316Val)
|
rs761182866
|
|
NM_004366.6(CLCN2):c.620C>T (p.Pro207Leu)
|
|
|
NM_004369.4(COL6A3):c.2507G>T (p.Arg836Leu)
|
rs763810209
|
|
NM_004369.4(COL6A3):c.2655G>T (p.Lys885Asn)
|
|
|
NM_004369.4(COL6A3):c.3589G>A (p.Val1197Ile)
|
rs748053172
|
|
NM_004369.4(COL6A3):c.4010C>G (p.Pro1337Arg)
|
|
|
NM_004369.4(COL6A3):c.4291G>C (p.Glu1431Gln)
|
|
|
NM_004369.4(COL6A3):c.7425C>A (p.Asn2475Lys)
|
rs998223951
|
|
NM_004369.4(COL6A3):c.8341A>G (p.Lys2781Glu)
|
rs2076965280
|
|
NM_004370.6(COL12A1):c.822G>A (p.Leu274=)
|
|
|
NM_004371.4(COPA):c.1077-6CT[3]
|
rs750537666
|
|
NM_004380.3(CREBBP):c.1934A>G (p.Asn645Ser)
|
|
|
NM_004380.3(CREBBP):c.2348T>G (p.Met783Arg)
|
|
|
NM_004380.3(CREBBP):c.2360C>T (p.Ala787Val)
|
|
|
NM_004380.3(CREBBP):c.2921C>A (p.Thr974Asn)
|
|
|
NM_004380.3(CREBBP):c.3983-8C>T
|
|
|
NM_004380.3(CREBBP):c.503C>T (p.Thr168Met)
|
|
|
NM_004380.3(CREBBP):c.5962_5979del (p.Met1988_Ser1993del)
|
|
|
NM_004380.3(CREBBP):c.743C>T (p.Pro248Leu)
|
|
|
NM_004385.5(VCAN):c.1292A>G (p.Lys431Arg)
|
|
|
NM_004397.6(DDX6):c.107C>G (p.Thr36Arg)
|
|
|
NM_004397.6(DDX6):c.1186C>T (p.Arg396Ter)
|
|
|
NM_004397.6(DDX6):c.647-13A>G
|
rs2137451978
|
|
NM_004397.6(DDX6):c.865-13G>A
|
|
|
NM_004408.4(DNM1):c.1594G>C (p.Gly532Arg)
|
|
|
NM_004408.4(DNM1):c.649C>T (p.Arg217Cys)
|
|
|
NM_004409.5(DMPK):c.171del (p.Ile57fs)
|
|
|
NM_004415.4(DSP):c.146C>T (p.Thr49Ile)
|
rs151153655
|
|
NM_004415.4(DSP):c.1775G>T (p.Arg592Ile)
|
rs1759048949
|
|
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly)
|
rs758530970
|
|
NM_004415.4(DSP):c.2050G>T (p.Gly684Cys)
|
rs1759071281
|
|
NM_004415.4(DSP):c.2298-10C>G
|
|
|
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn)
|
rs770105310
|
|
NM_004415.4(DSP):c.2631-3C>T
|
rs1041054817
|
|
NM_004415.4(DSP):c.2631-3_2631delinsTAGA
|
|
|
NM_004415.4(DSP):c.272C>T (p.Pro91Leu)
|
rs1561679365
|
|
NM_004415.4(DSP):c.3492C>G (p.Ile1164Met)
|
rs1561697488
|
|
NM_004415.4(DSP):c.3687_3689dup (p.Glu1229dup)
|
rs1561697838
|
|
NM_004415.4(DSP):c.3964G>A (p.Asp1322Asn)
|
rs1759376700
|
|
NM_004415.4(DSP):c.4232G>A (p.Arg1411Lys)
|
|
|
NM_004415.4(DSP):c.4717G>A (p.Val1573Met)
|
rs370171270
|
|
NM_004415.4(DSP):c.598-19C>G
|
|
|
NM_004415.4(DSP):c.6088T>C (p.Ser2030Pro)
|
rs1759514959
|
|
NM_004415.4(DSP):c.6160G>T (p.Ala2054Ser)
|
rs1759517531
|
|
NM_004415.4(DSP):c.616G>A (p.Ala206Thr)
|
rs794728109
|
|
NM_004415.4(DSP):c.940-7T>G
|
rs1368622056
|
|
NM_004423.4(DVL3):c.812G>A (p.Arg271His)
|
|
|
NM_004444.5(EPHB4):c.1636G>C (p.Val546Leu)
|
|
|
NM_004446.3(EPRS1):c.3271A>G (p.Lys1091Glu)
|
|
|
NM_004446.3(EPRS1):c.3586G>T (p.Val1196Leu)
|
|
|
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala)
|
rs754418186
|
|
NM_004453.4(ETFDH):c.1469G>C (p.Gly490Ala)
|
rs2126316052
|
|
NM_004453.4(ETFDH):c.1774T>C (p.Cys592Arg)
|
|
|
NM_004453.4(ETFDH):c.245C>T (p.Ser82Phe)
|
|
|
NM_004453.4(ETFDH):c.405+3A>G
|
rs796051965
|
|
NM_004453.4(ETFDH):c.412C>T (p.Leu138Phe)
|
|
|
NM_004453.4(ETFDH):c.485C>T (p.Pro162Leu)
|
rs1773956133
|
|
NM_004453.4(ETFDH):c.508G>T (p.Gly170Cys)
|
|
|
NM_004453.4(ETFDH):c.992A>T (p.Asn331Ile)
|
rs2150312216
|
|
NM_004462.5(FDFT1):c.452G>A (p.Gly151Asp)
|
|
|
NM_004462.5(FDFT1):c.702+1G>T
|
|
|
NM_004462.5(FDFT1):c.87del (p.Lys30fs)
|
|
|
NM_004463.3(FGD1):c.571G>A (p.Asp191Asn)
|
rs1922868484
|
|
NM_004493.3(HSD17B10):c.323C>T (p.Thr108Ile)
|
|
|
NM_004493.3(HSD17B10):c.455A>G (p.Asn152Ser)
|
rs2146627999
|
|
NM_004519.4(KCNQ3):c.1624G>A (p.Asp542Asn)
|
rs1005759975
|
|
NM_004519.4(KCNQ3):c.2139del (p.Phe713fs)
|
rs1554621412
|
|
NM_004522.3(KIF5C):c.10C>A (p.Pro4Thr)
|
|
|
NM_004522.3(KIF5C):c.2779C>T (p.Arg927Cys)
|
rs867604993
|
|
NM_004522.3(KIF5C):c.820-4A>G
|
|
|
NM_004523.4(KIF11):c.1494+8C>T
|
|
|
NM_004523.4(KIF11):c.308+14T>A
|
|
|
NM_004525.3(LRP2):c.10654T>G (p.Phe3552Val)
|
rs2105284304
|
|
NM_004525.3(LRP2):c.3157G>A (p.Asp1053Asn)
|
rs1432929481
|
|
NM_004525.3(LRP2):c.4733G>A (p.Arg1578His)
|
|
|
NM_004525.3(LRP2):c.4866G>A (p.Met1622Ile)
|
rs2105375209
|
|
NM_004525.3(LRP2):c.770-4dup
|
|
|
NM_004525.3(LRP2):c.8579C>T (p.Thr2860Ile)
|
rs765920078
|
|
NM_004531.5(MOCS2):c.377+4T>C
|
|
|
NM_004560.4(ROR2):c.1801G>A (p.Ala601Thr)
|
|
|
NM_004565.3(PEX14):c.76G>A (p.Glu26Lys)
|
rs748746721
|
|
NM_004588.5(SCN2B):c.389T>C (p.Met130Thr)
|
|
|
NM_004589.4(SCO1):c.16C>G (p.Leu6Val)
|
rs61753148
|
|
NM_004606.5(TAF1):c.247A>C (p.Ser83Arg)
|
rs2032701000
|
|
NM_004606.5(TAF1):c.3648A>G (p.Gln1216=)
|
rs2034990430
|
|
NM_004606.5(TAF1):c.5399+1_5399+72dup
|
|
|
NM_004606.5(TAF1):c.551G>T (p.Ser184Ile)
|
|
|
NM_004606.5(TAF1):c.614A>T (p.Asp205Val)
|
rs2033530376
|
|
NM_004612.4(TGFBR1):c.-69C>A
|
|
|
NM_004612.4(TGFBR1):c.1465A>G (p.Lys489Glu)
|
rs1554702748
|
|
NM_004612.4(TGFBR1):c.32G>A (p.Arg11Gln)
|
rs886038980
|
|
NM_004612.4(TGFBR1):c.344-9C>T
|
|
|
NM_004612.4(TGFBR1):c.59C>T (p.Ala20Val)
|
rs1333080544
|
|
NM_004612.4(TGFBR1):c.806-15_806-7del
|
rs2118776036
|
|
NM_004612.4(TGFBR1):c.80_85del (p.Leu27_Leu28del)
|
rs2118166265
|
|
NM_004614.5(TK2):c.698T>C (p.Leu233Pro)
|
|
|
NM_004615.4(TSPAN7):c.473A>G (p.Asn158Ser)
|
|
|
NM_004628.5(XPC):c.-1C>T
|
|
|
NM_004628.5(XPC):c.1001C>T (p.Pro334Leu)
|
|
|
NM_004629.2(FANCG):c.1795del (p.Trp599fs)
|
|
|
NM_004629.2(FANCG):c.1852_1853del (p.Lys618fs)
|
rs532302967
|
|
NM_004629.2(FANCG):c.686T>C (p.Leu229Pro)
|
rs2131056621
|
|
NM_004643.4(PABPN1):c.3GGC[8] (p.Ala11dup)
|
rs193922941
|
|
NM_004646.4(NPHS1):c.1154A>G (p.Glu385Gly)
|
|
|
NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr)
|
|
|
NM_004646.4(NPHS1):c.1726G>T (p.Val576Phe)
|
rs1973129887
|
|
NM_004646.4(NPHS1):c.1913A>G (p.Tyr638Cys)
|
|
|
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)
|
rs138173172
|
|
NM_004646.4(NPHS1):c.320C>A (p.Ala107Glu)
|
rs386833934
|
|
NM_004646.4(NPHS1):c.3274C>T (p.Arg1092Cys)
|
|
|
NM_004646.4(NPHS1):c.3594+2T>C
|
|
|
NM_004646.4(NPHS1):c.3701del (p.Phe1234fs)
|
|
|
NM_004646.4(NPHS1):c.385C>T (p.Leu129Phe)
|
|
|
NM_004655.4(AXIN2):c.1531A>G (p.Thr511Ala)
|
rs376936740
|
|
NM_004655.4(AXIN2):c.1927G>T (p.Ala643Ser)
|
rs748005374
|
|
NM_004655.4(AXIN2):c.1933C>G (p.Pro645Ala)
|
rs1405864888
|
|
NM_004655.4(AXIN2):c.958G>C (p.Asp320His)
|
rs1060502136
|
|
NM_004667.6(HERC2):c.11300-15C>G
|
|
|
NM_004667.6(HERC2):c.4582C>T (p.Leu1528Phe)
|
rs780527731
|
|
NM_004667.6(HERC2):c.5465-5A>G
|
|
|
NM_004700.4(KCNQ4):c.834+5G>A
|
|
|
NM_004700.4(KCNQ4):c.836T>G (p.Ile279Ser)
|
|
|
NM_004733.4(SLC33A1):c.1117T>G (p.Leu373Val)
|
|
|
NM_004733.4(SLC33A1):c.1425A>G (p.Thr475=)
|
|
|
NM_004733.4(SLC33A1):c.463A>G (p.Met155Val)
|
|
|
NM_004733.4(SLC33A1):c.7C>G (p.Pro3Ala)
|
|
|
NM_004736.4(XPR1):c.1213G>A (p.Val405Met)
|
|
|
NM_004736.4(XPR1):c.2074G>A (p.Asp692Asn)
|
|
|
NM_004744.5(LRAT):c.487C>T (p.His163Tyr)
|
rs1010347467
|
|
NM_004750.5(CRLF1):c.1024+2_1024+5dup
|
|
|
NM_004752.4(GCM2):c.764T>G (p.Met255Arg)
|
|
|
NM_004757.4(AIMP1):c.-26+204A>G
|
|
|
NM_004773.4(ZNHIT3):c.255_258del (p.Asp85fs)
|
|
|
NM_004773.4(ZNHIT3):c.302dup (p.Leu101fs)
|
rs763435615
|
|
NM_004780.3(TCEAL1):c.84dup (p.Pro29fs)
|
|
|
NM_004793.4(LONP1):c.1026G>C (p.Glu342Asp)
|
|
|
NM_004793.4(LONP1):c.902G>A (p.Arg301Gln)
|
|
|
NM_004807.3(HS6ST1):c.857G>A (p.Arg286Gln)
|
|
|
NM_004813.4(PEX16):c.956_958del (p.Pro319del)
|
rs754790425
|
|
NM_004820.5(CYP7B1):c.799A>G (p.Arg267Gly)
|
rs2129630196
|
|
NM_004836.7(EIF2AK3):c.3194G>A (p.Arg1065Gln)
|
|
|
NM_004839.4(HOMER2):c.107A>G (p.Tyr36Cys)
|
|
|
NM_004855.5(PIGB):c.-2G>T
|
|
|
NM_004855.5(PIGB):c.1626del (p.Lys543fs)
|
|
|
NM_004859.4(CLTC):c.2562-6dup
|
|
|
NM_004863.4(SPTLC2):c.1544C>T (p.Ala515Val)
|
|
|
NM_004937.3(CTNS):c.140+6T>C
|
|
|
NM_004937.3(CTNS):c.872A>C (p.Tyr291Ser)
|
rs766108462
|
|
NM_004937.3(CTNS):c.907C>T (p.Leu303Phe)
|
rs2142981414
|
|
NM_004937.3(CTNS):c.970+3G>A
|
|
|
NM_004958.4(MTOR):c.3525C>G (p.Asp1175Glu)
|
|
|
NM_004958.4(MTOR):c.4687-3T>C
|
rs760066667
|
|
NM_004958.4(MTOR):c.4998+1G>A
|
|
|
NM_004958.4(MTOR):c.6247_6248insT (p.Glu2083fs)
|
rs1642875607
|
|
NM_004958.4(MTOR):c.7017-4A>G
|
|
|
NM_004960.4(FUS):c.1539C>T (p.Ser513=)
|
|
|
NM_004970.3(IGFALS):c.1399C>T (p.Arg467Cys)
|
|
|
NM_004970.3(IGFALS):c.1483dup (p.Glu495fs)
|
|
|
NM_004970.3(IGFALS):c.1678C>T (p.Arg560Cys)
|
|
|
NM_004970.3(IGFALS):c.17-72G>A
|
|
|
NM_004973.4(JARID2):c.2542-8C>A
|
|
|
NM_004975.4(KCNB1):c.1072G>A (p.Asp358Asn)
|
|
|
NM_004975.4(KCNB1):c.2173A>G (p.Ile725Val)
|
|
|
NM_004977.3(KCNC3):c.709G>A (p.Gly237Arg)
|
|
|
NM_004977.3(KCNC3):c.965C>T (p.Thr322Met)
|
|
|
NM_004984.4(KIF5A):c.1163C>A (p.Ala388Asp)
|
rs1882197501
|
|
NM_004984.4(KIF5A):c.2960T>C (p.Leu987Ser)
|
|
|
NM_004985.5(KRAS):c.179G>A (p.Gly60Asp)
|
|
|
NM_004985.5(KRAS):c.220A>C (p.Thr74Pro)
|
rs770020203
|
|
NM_004985.5(KRAS):c.291-10del
|
rs727503991
|
|
NM_004990.4(MARS1):c.1293+5G>A
|
rs1876872609
|
|
NM_004990.4(MARS1):c.1321T>C (p.Cys441Arg)
|
|
|
NM_004990.4(MARS1):c.2278A>G (p.Met760Val)
|
|
|
NM_004990.4(MARS1):c.2387G>T (p.Gly796Val)
|
|
|
NM_004990.4(MARS1):c.683T>C (p.Leu228Pro)
|
|
|
NM_004991.4(MECOM):c.972T>G (p.Cys324Trp)
|
|
|
NM_005005.3(NDUFB9):c.409-1G>C
|
|
|
NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly)
|
rs1597686012
|
|
NM_005027.4(PIK3R2):c.1216C>G (p.Arg406Gly)
|
|
|
NM_005035.4(POLRMT):c.1783A>C (p.Lys595Gln)
|
|
|
NM_005035.4(POLRMT):c.2386C>G (p.Leu796Val)
|
|
|
NM_005035.4(POLRMT):c.2565G>T (p.Glu855Asp)
|
|
|
NM_005035.4(POLRMT):c.3142C>T (p.Arg1048Trp)
|
|
|
NM_005035.4(POLRMT):c.3389C>G (p.Ser1130Cys)
|
|
|
NM_005035.4(POLRMT):c.3496-5C>T
|
|
|
NM_005045.4(RELN):c.3085A>G (p.Ile1029Val)
|
|
|
NM_005045.4(RELN):c.4748-12A>T
|
rs1830753146
|
|
NM_005045.4(RELN):c.48G>T (p.Leu16Phe)
|
|
|
NM_005045.4(RELN):c.6199T>C (p.Ser2067Pro)
|
rs1830401821
|
|
NM_005045.4(RELN):c.6575G>C (p.Arg2192Pro)
|
rs1309424440
|
|
NM_005045.4(RELN):c.8920G>A (p.Gly2974Ser)
|
|
|
NM_005050.4(ABCD4):c.1779_1780del (p.Cys593fs)
|
rs1566906720
|
|
NM_005050.4(ABCD4):c.206G>A (p.Gly69Glu)
|
|
|
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
|
|
|
NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr)
|
rs142635726
|
|
NM_005055.5(RAPSN):c.624C>G (p.Ser208Arg)
|
|
|
NM_005084.4(PLA2G7):c.1277A>G (p.Asn426Ser)
|
|
|
NM_005084.4(PLA2G7):c.667C>T (p.Arg223Trp)
|
|
|
NM_005085.4(NUP214):c.4522A>G (p.Ser1508Gly)
|
rs967108471
|
|
NM_005120.3(MED12):c.1101+8_1101+9insCCTAGGCGGGTACCCTACAGCTACAGGTAGGTACCC
|
|
|
NM_005120.3(MED12):c.1930C>A (p.Pro644Thr)
|
rs950787066
|
|
NM_005120.3(MED12):c.2294A>T (p.Asp765Val)
|
rs1243443016
|
|
NM_005120.3(MED12):c.2350C>T (p.Arg784Cys)
|
rs2147793341
|
|
NM_005120.3(MED12):c.2423-6C>T
|
|
|
NM_005120.3(MED12):c.2941T>A (p.Ser981Thr)
|
rs2147799502
|
|
NM_005120.3(MED12):c.33C>A (p.His11Gln)
|
|
|
NM_005138.3(SCO2):c.289G>T (p.Ala97Ser)
|
|
|
NM_005138.3(SCO2):c.773T>C (p.Met258Thr)
|
|
|
NM_005141.5(FGB):c.114+11del
|
rs779228767
|
|
NM_005141.5(FGB):c.306+7_306+8delinsAA
|
|
|
NM_005141.5(FGB):c.773A>C (p.Gln258Pro)
|
|
|
NM_005141.5(FGB):c.956C>T (p.Pro319Leu)
|
|
|
NM_005159.5(ACTC1):c.397G>A (p.Ala133Thr)
|
rs1566967697
|
|
NM_005159.5(ACTC1):c.485C>T (p.Thr162Ile)
|
rs1379875828
|
|
NM_005159.5(ACTC1):c.809-14del
|
rs1891700511
|
|
NM_005159.5(ACTC1):c.809-18del
|
rs1891700805
|
|
NM_005159.5(ACTC1):c.809-58TG[33]
|
rs59431308
|
|
NM_005188.4(CBL):c.1168G>C (p.Asp390His)
|
rs267606707
|
|
NM_005188.4(CBL):c.118C>G (p.His40Asp)
|
rs1949270382
|
|
NM_005188.4(CBL):c.1193A>G (p.His398Arg)
|
rs1303812580
|
|
NM_005188.4(CBL):c.1298del (p.Pro433fs)
|
|
|
NM_005188.4(CBL):c.1538C>T (p.Ala513Val)
|
rs1949970576
|
|
NM_005188.4(CBL):c.1705_1707del (p.Pro569del)
|
rs2135310558
|
|
NM_005188.4(CBL):c.1739C>T (p.Pro580Leu)
|
|
|
NM_005188.4(CBL):c.18G>T (p.Lys6Asn)
|
|
|
NM_005188.4(CBL):c.195+12_195+13delinsTT
|
rs1949271281
|
|
NM_005188.4(CBL):c.2087A>G (p.Glu696Gly)
|
rs1354142112
|
|
NM_005188.4(CBL):c.2107C>G (p.Pro703Ala)
|
rs1229733932
|
|
NM_005188.4(CBL):c.2154-8T>C
|
|
|
NM_005188.4(CBL):c.2246C>T (p.Thr749Ile)
|
rs2135320235
|
|
NM_005188.4(CBL):c.2279_2346dup (p.Ala783fs)
|
rs1950077753
|
|
NM_005188.4(CBL):c.2282_2362dup (p.Arg787_Arg788insHisThrGlyProGluGluSerGluAsnGluAspAspGlyTyrAspValProLysProProValProAlaValLeuAlaArg)
|
rs1950077794
|
|
NM_005188.4(CBL):c.2381C>T (p.Ser794Phe)
|
rs201620100
|
|
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del)
|
rs755938138
|
|
NM_005188.4(CBL):c.2471C>T (p.Pro824Leu)
|
rs2135322034
|
|
NM_005188.4(CBL):c.2509G>A (p.Ala837Thr)
|
rs1950086093
|
|
NM_005188.4(CBL):c.2589C>G (p.Asn863Lys)
|
rs397517081
|
|
NM_005188.4(CBL):c.2603G>T (p.Gly868Val)
|
rs1950087495
|
|
NM_005188.4(CBL):c.2684T>C (p.Phe895Ser)
|
|
|
NM_005188.4(CBL):c.347G>T (p.Arg116Met)
|
rs748412298
|
|
NM_005188.4(CBL):c.357G>A (p.Met119Ile)
|
rs1490142046
|
|
NM_005188.4(CBL):c.445C>T (p.Arg149Ter)
|
rs267602720
|
|
NM_005188.4(CBL):c.590+20A>T
|
|
|
NM_005188.4(CBL):c.747+3A>G
|
rs1592398477
|
|
NM_005188.4(CBL):c.747+8A>T
|
|
|
NM_005188.4(CBL):c.791C>T (p.Thr264Ile)
|
|
|
NM_005199.5(CHRNG):c.734TCA[1] (p.Ile246del)
|
rs747062636
|
|
NM_005202.4(COL8A2):c.679C>T (p.Pro227Ser)
|
|
|
NM_005215.4(DCC):c.1598A>G (p.Asn533Ser)
|
|
|
NM_005215.4(DCC):c.3448C>T (p.Pro1150Ser)
|
|
|
NM_005215.4(DCC):c.3579G>C (p.Gln1193His)
|
|
|
NM_005215.4(DCC):c.698-17G>T
|
|
|
NM_005219.5(DIAPH1):c.1927C>G (p.Pro643Ala)
|
|
|
NM_005233.6(EPHA3):c.1915C>A (p.Arg639Ser)
|
rs754102338
|
|
NM_005235.3(ERBB4):c.197C>T (p.Thr66Ile)
|
|
|
NM_005235.3(ERBB4):c.2371A>G (p.Thr791Ala)
|
|
|
NM_005235.3(ERBB4):c.421G>C (p.Glu141Gln)
|
|
|
NM_005236.3(ERCC4):c.1469G>A (p.Arg490Gln)
|
|
|
NM_005236.3(ERCC4):c.187A>C (p.Asn63His)
|
rs1203098300
|
|
NM_005236.3(ERCC4):c.2283T>G (p.Phe761Leu)
|
rs2141620363
|
|
NM_005249.5(FOXG1):c.440A>G (p.Lys147Arg)
|
|
|
NM_005262.3(GFER):c.55C>T (p.Pro19Ser)
|
|
|
NM_005269.3(GLI1):c.1077+20G>A
|
|
|
NM_005269.3(GLI1):c.2008G>T (p.Ala670Ser)
|
|
|
NM_005271.5(GLUD1):c.1269G>C (p.Met423Ile)
|
|
|
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)
|
|
|
NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr)
|
rs797045597
|
|
NM_005321.3(H1-4):c.341G>A (p.Gly114Glu)
|
|
|
NM_005327.7(HADH):c.523G>A (p.Val175Met)
|
|
|
NM_005334.3(HCFC1):c.1520G>A (p.Ser507Asn)
|
|
|
NM_005334.3(HCFC1):c.193+16G>T
|
|
|
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)
|
|
|
NM_005334.3(HCFC1):c.5287G>A (p.Ala1763Thr)
|
|
|
NM_005334.3(HCFC1):c.5379+8G>A
|
|
|
NM_005343.4(HRAS):c.-2C>A
|
rs757657838
|
|
NM_005343.4(HRAS):c.-5G>A
|
rs879083675
|
|
NM_005343.4(HRAS):c.112-4G>A
|
rs1589792986
|
|
NM_005343.4(HRAS):c.165_166insTCCGGAAGCAGGTGGTCATTGATGGGGAGACGTGCCTGTTGGACATC (p.Leu56fs)
|
rs1851284408
|
|
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln)
|
rs730880461
|
|
NM_005343.4(HRAS):c.290+10G>A
|
rs769212136
|
|
NM_005343.4(HRAS):c.290+1G>C
|
rs1851270546
|
|
NM_005343.4(HRAS):c.291-9A>G
|
rs1564789180
|
|
NM_005343.4(HRAS):c.450+20C>A
|
rs201524241
|
|
NM_005349.4(RBPJ):c.37C>G (p.Pro13Ala)
|
|
|
NM_005359.6(SMAD4):c.1052A>T (p.Asp351Val)
|
rs1060500741
|
|
NM_005359.6(SMAD4):c.1140-10del
|
rs763877987
|
|
NM_005359.6(SMAD4):c.1140-3A>C
|
rs956212866
|
|
NM_005359.6(SMAD4):c.1447+9G>A
|
rs878854766
|
|
NM_005359.6(SMAD4):c.1591C>T (p.Arg531Trp)
|
rs766833269
|
|
NM_005359.6(SMAD4):c.31A>T (p.Thr11Ser)
|
rs587780791
|
|
NM_005359.6(SMAD4):c.457C>G (p.Pro153Ala)
|
rs751763157
|
|
NM_005359.6(SMAD4):c.47G>C (p.Cys16Ser)
|
rs1555684993
|
|
NM_005359.6(SMAD4):c.788-6T>C
|
rs1909898384
|
|
NM_005359.6(SMAD4):c.955+6T>C
|
|
|
NM_005360.5(MAF):c.1050G>A (p.Lys350=)
|
|
|
NM_005360.5(MAF):c.435_440dup (p.Ala148_Ser149insGlyAla)
|
|
|
NM_005360.5(MAF):c.610G>A (p.Gly204Ser)
|
|
|
NM_005373.3(MPL):c.398C>T (p.Pro133Leu)
|
|
|
NM_005373.3(MPL):c.823C>A (p.Pro275Thr)
|
rs28928908
|
|
NM_005378.6(MYCN):c.354C>A (p.Ser118Arg)
|
|
|
NM_005391.5(PDK3):c.249-15T>C
|
|
|
NM_005402.4(RALA):c.497A>G (p.Lys166Arg)
|
|
|
NM_005412.6(SHMT2):c.121_122del (p.Arg41fs)
|
|
|
NM_005422.4(TECTA):c.3104A>G (p.Glu1035Gly)
|
|
|
NM_005430.4(WNT1):c.1108C>G (p.Leu370Val)
|
|
|
NM_005445.4(SMC3):c.2635C>T (p.Arg879Ter)
|
|
|
NM_005445.4(SMC3):c.2761G>C (p.Glu921Gln)
|
rs1564795916
|
|
NM_005445.4(SMC3):c.3604dup (p.Thr1202fs)
|
rs2134755767
|
|
NM_005450.6(NOG):c.509C>G (p.Pro170Arg)
|
rs2052471344
|
|
NM_005458.8(GABBR2):c.1363A>G (p.Thr455Ala)
|
|
|
NM_005458.8(GABBR2):c.1544C>T (p.Ser515Leu)
|
rs2131489662
|
|
NM_005458.8(GABBR2):c.181C>T (p.Leu61Phe)
|
|
|
NM_005461.5(MAFB):c.452C>T (p.Ala151Val)
|
|
|
NM_005461.5(MAFB):c.565G>A (p.Gly189Arg)
|
|
|
NM_005465.7(AKT3):c.284+2T>G
|
rs1682654244
|
|
NM_005476.7(GNE):c.1042C>T (p.His348Tyr)
|
|
|
NM_005476.7(GNE):c.1281G>A (p.Lys427=)
|
rs1554659670
|
|
NM_005476.7(GNE):c.1411+5G>A
|
|
|
NM_005476.7(GNE):c.1877A>G (p.His626Arg)
|
|
|
NM_005476.7(GNE):c.211A>T (p.Arg71Trp)
|
rs886044539
|
|
NM_005476.7(GNE):c.238G>T (p.Asp80Tyr)
|
|
|
NM_005476.7(GNE):c.317T>C (p.Ile106Thr)
|
rs773920008
|
|
NM_005476.7(GNE):c.353C>T (p.Ala118Val)
|
|
|
NM_005476.7(GNE):c.769+3dup
|
rs756817842
|
|
NM_005476.7(GNE):c.794T>C (p.Met265Thr)
|
rs2133068813
|
|
NM_005477.3(HCN4):c.1963G>A (p.Gly655Ser)
|
|
|
NM_005477.3(HCN4):c.3100C>T (p.Pro1034Ser)
|
rs1158677290
|
|
NM_005477.3(HCN4):c.514C>T (p.Pro172Ser)
|
|
|
NM_005477.3(HCN4):c.76A>G (p.Met26Val)
|
|
|
NM_005502.4(ABCA1):c.*17G>A
|
|
|
NM_005502.4(ABCA1):c.1040A>G (p.Tyr347Cys)
|
|
|
NM_005502.4(ABCA1):c.1312-16C>T
|
|
|
NM_005502.4(ABCA1):c.1371T>A (p.Asp457Glu)
|
|
|
NM_005502.4(ABCA1):c.1945A>T (p.Ile649Phe)
|
|
|
NM_005502.4(ABCA1):c.2051G>A (p.Ser684Asn)
|
|
|
NM_005502.4(ABCA1):c.2068C>G (p.Leu690Val)
|
|
|
NM_005502.4(ABCA1):c.3104-5dup
|
rs746119307
|
|
NM_005502.4(ABCA1):c.3241+5C>T
|
|
|
NM_005502.4(ABCA1):c.3536-6C>T
|
|
|
NM_005502.4(ABCA1):c.357C>A (p.Asp119Glu)
|
rs763744498
|
|
NM_005502.4(ABCA1):c.3907A>G (p.Arg1303Gly)
|
|
|
NM_005502.4(ABCA1):c.4099A>G (p.Ile1367Val)
|
|
|
NM_005502.4(ABCA1):c.4295G>A (p.Gly1432Glu)
|
|
|
NM_005502.4(ABCA1):c.4464+12T>C
|
|
|
NM_005502.4(ABCA1):c.4559+12C>T
|
|
|
NM_005502.4(ABCA1):c.4640C>T (p.Pro1547Leu)
|
|
|
NM_005502.4(ABCA1):c.4808G>C (p.Ser1603Thr)
|
rs1030058509
|
|
NM_005502.4(ABCA1):c.5121+14C>T
|
|
|
NM_005502.4(ABCA1):c.5146C>G (p.Leu1716Val)
|
rs1829900481
|
|
NM_005502.4(ABCA1):c.5374A>G (p.Thr1792Ala)
|
rs1176498235
|
|
NM_005502.4(ABCA1):c.5782G>T (p.Ala1928Ser)
|
|
|
NM_005502.4(ABCA1):c.6068A>C (p.Lys2023Thr)
|
|
|
NM_005502.4(ABCA1):c.6292G>A (p.Val2098Met)
|
|
|
NM_005502.4(ABCA1):c.6309-18C>T
|
|
|
NM_005502.4(ABCA1):c.6309-4G>A
|
rs199562704
|
|
NM_005502.4(ABCA1):c.721-10del
|
|
|
NM_005502.4(ABCA1):c.886T>A (p.Ser296Thr)
|
|
|
NM_005535.3(IL12RB1):c.1217G>A (p.Gly406Glu)
|
rs199504990
|
|
NM_005559.4(LAMA1):c.1873G>A (p.Gly625Ser)
|
|
|
NM_005559.4(LAMA1):c.2058G>T (p.Glu686Asp)
|
|
|
NM_005559.4(LAMA1):c.3319G>C (p.Gly1107Arg)
|
|
|
NM_005559.4(LAMA1):c.4025T>C (p.Val1342Ala)
|
|
|
NM_005559.4(LAMA1):c.4884C>A (p.Asn1628Lys)
|
|
|
NM_005559.4(LAMA1):c.768+5G>A
|
|
|
NM_005559.4(LAMA1):c.7779-13A>G
|
|
|
NM_005559.4(LAMA1):c.7970T>C (p.Leu2657Ser)
|
|
|
NM_005559.4(LAMA1):c.8711-17C>G
|
|
|
NM_005560.6(LAMA5):c.8356G>A (p.Gly2786Ser)
|
rs1986721762
|
|
NM_005560.6(LAMA5):c.8822C>T (p.Thr2941Met)
|
|
|
NM_005560.6(LAMA5):c.9967G>T (p.Ala3323Ser)
|
|
|
NM_005562.3(LAMC2):c.1468+5G>A
|
|
|
NM_005565.5(LCP2):c.928C>T (p.His310Tyr)
|
|
|
NM_005573.4(LMNB1):c.1160+6G>A
|
|
|
NM_005573.4(LMNB1):c.43G>A (p.Ala15Thr)
|
|
|
NM_005573.4(LMNB1):c.506A>G (p.Gln169Arg)
|
|
|
NM_005585.5(SMAD6):c.1419dup (p.Pro474fs)
|
rs1894573824
|
|
NM_005585.5(SMAD6):c.710A>G (p.His237Arg)
|
|
|
NM_005585.5(SMAD6):c.79_84del (p.Ser27_Gly28del)
|
rs769605183
|
|
NM_005591.4(MRE11):c.1151A>T (p.Lys384Ile)
|
rs1193534253
|
|
NM_005591.4(MRE11):c.1811G>A (p.Arg604His)
|
rs148637964
|
|
NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro)
|
rs148637964
|
|
NM_005591.4(MRE11):c.2021T>A (p.Ile674Asn)
|
rs1591633964
|
|
NM_005591.4(MRE11):c.314+6T>C
|
rs864622413
|
|
NM_005591.4(MRE11):c.402+7_402+9del
|
|
|
NM_005591.4(MRE11):c.52_54del (p.Ala18del)
|
rs876658216
|
|
NM_005591.4(MRE11):c.562A>G (p.Arg188Gly)
|
rs1946857150
|
|
NM_005591.4(MRE11):c.660-7G>T
|
rs761857022
|
|
NM_005591.4(MRE11):c.986C>G (p.Thr329Ser)
|
rs370645480
|
|
NM_005592.4(MUSK):c.1235T>C (p.Val412Ala)
|
|
|
NM_005609.4(PYGM):c.1058T>A (p.Ile353Asn)
|
|
|
NM_005609.4(PYGM):c.1463C>T (p.Thr488Ile)
|
rs1555134900
|
|
NM_005609.4(PYGM):c.1624A>G (p.Asn542Asp)
|
rs2135830822
|
|
NM_005609.4(PYGM):c.181C>T (p.Arg61Cys)
|
rs1413461008
|
|
NM_005609.4(PYGM):c.2038A>G (p.Met680Val)
|
|
|
NM_005609.4(PYGM):c.2312+19G>A
|
|
|
NM_005609.4(PYGM):c.244-19C>T
|
|
|
NM_005612.5(REST):c.613A>C (p.Thr205Pro)
|
|
|
NM_005618.4(DLL1):c.1085T>G (p.Ile362Ser)
|
|
|
NM_005618.4(DLL1):c.515A>G (p.Lys172Arg)
|
|
|
NM_005619.5(RTN2):c.1381-5C>T
|
|
|
NM_005629.4(SLC6A8):c.115G>A (p.Gly39Ser)
|
|
|
NM_005629.4(SLC6A8):c.645-19A>G
|
rs2148361615
|
|
NM_005629.4(SLC6A8):c.912+6G>C
|
|
|
NM_005633.4(SOS1):c.1063G>A (p.Glu355Lys)
|
rs1670303340
|
|
NM_005633.4(SOS1):c.1199T>G (p.Leu400Arg)
|
|
|
NM_005633.4(SOS1):c.1251_1347dup (p.Leu450delinsSerAsnGlnGluAspGluArgAspSerGluGluTyrTer)
|
rs1669848601
|
|
NM_005633.4(SOS1):c.1269C>G (p.Asn423Lys)
|
rs138459502
|
|
NM_005633.4(SOS1):c.1271_1345dup (p.Gly448_Thr449insLysIleGlnLysAsnIleAspGlyTrpGluGlyLysAspIleGlyGlnCysCysAsnGluPheIleMetGluGly)
|
rs1669848769
|
|
NM_005633.4(SOS1):c.1288G>A (p.Asp430Asn)
|
|
|
NM_005633.4(SOS1):c.1370A>G (p.His457Arg)
|
rs1060503524
|
|
NM_005633.4(SOS1):c.1391T>C (p.Phe464Ser)
|
|
|
NM_005633.4(SOS1):c.1412G>T (p.Cys471Phe)
|
|
|
NM_005633.4(SOS1):c.1454A>G (p.Asn485Ser)
|
rs140671910
|
|
NM_005633.4(SOS1):c.1499A>C (p.Gln500Pro)
|
rs2124537167
|
|
NM_005633.4(SOS1):c.1600A>G (p.Lys534Glu)
|
rs1669840891
|
|
NM_005633.4(SOS1):c.1646C>A (p.Thr549Lys)
|
rs730881046
|
|
NM_005633.4(SOS1):c.1690G>A (p.Glu564Lys)
|
rs1386900583
|
|
NM_005633.4(SOS1):c.1759A>G (p.Ile587Val)
|
|
|
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val)
|
rs727505093
|
|
NM_005633.4(SOS1):c.1940+18A>T
|
rs1669577494
|
|
NM_005633.4(SOS1):c.1954G>C (p.Glu652Gln)
|
rs1408868952
|
|
NM_005633.4(SOS1):c.2045T>C (p.Ile682Thr)
|
|
|
NM_005633.4(SOS1):c.2057A>G (p.Gln686Arg)
|
|
|
NM_005633.4(SOS1):c.214-12C>T
|
rs2124610999
|
|
NM_005633.4(SOS1):c.2168G>T (p.Gly723Val)
|
|
|
NM_005633.4(SOS1):c.2180A>G (p.Lys727Arg)
|
rs1669496540
|
|
NM_005633.4(SOS1):c.2188G>T (p.Val730Phe)
|
rs1558469016
|
|
NM_005633.4(SOS1):c.2227G>A (p.Ala743Thr)
|
|
|
NM_005633.4(SOS1):c.2265_2355dup (p.Arg786delinsGluPheThrSerHisSerTer)
|
rs1669491885
|
|
NM_005633.4(SOS1):c.2405C>T (p.Ser802Leu)
|
|
|
NM_005633.4(SOS1):c.2490C>A (p.Asn830Lys)
|
rs730881029
|
|
NM_005633.4(SOS1):c.2708A>C (p.Glu903Ala)
|
|
|
NM_005633.4(SOS1):c.2788T>A (p.Phe930Ile)
|
rs1558465734
|
|
NM_005633.4(SOS1):c.2791+19A>C
|
|
|
NM_005633.4(SOS1):c.2791+7_2791+10del
|
rs760707217
|
|
NM_005633.4(SOS1):c.2792-4C>G
|
|
|
NM_005633.4(SOS1):c.2864_2944dup (p.Leu955_Leu981dup)
|
rs1668926020
|
|
NM_005633.4(SOS1):c.3256C>T (p.Pro1086Ser)
|
rs1057517892
|
|
NM_005633.4(SOS1):c.3319T>G (p.Ser1107Ala)
|
|
|
NM_005633.4(SOS1):c.3391+3_3391+6del
|
rs756201866
|
|
NM_005633.4(SOS1):c.3406T>A (p.Ser1136Thr)
|
rs2124458840
|
|
NM_005633.4(SOS1):c.3415A>G (p.Ser1139Gly)
|
rs1668593642
|
|
NM_005633.4(SOS1):c.348G>A (p.Glu116=)
|
rs1671231096
|
|
NM_005633.4(SOS1):c.34A>G (p.Ser12Gly)
|
|
|
NM_005633.4(SOS1):c.3580C>T (p.Pro1194Ser)
|
|
|
NM_005633.4(SOS1):c.3601C>T (p.Arg1201Trp)
|
rs752395541
|
|
NM_005633.4(SOS1):c.3696T>G (p.His1232Gln)
|
|
|
NM_005633.4(SOS1):c.38_46del (p.Glu13_Asn15del)
|
|
|
NM_005633.4(SOS1):c.440A>T (p.Asn147Ile)
|
|
|
NM_005633.4(SOS1):c.670A>G (p.Lys224Glu)
|
rs889231089
|
|
NM_005633.4(SOS1):c.743G>A (p.Arg248His)
|
|
|
NM_005633.4(SOS1):c.788T>C (p.Ile263Thr)
|
rs1310500908
|
|
NM_005633.4(SOS1):c.87+6G>T
|
rs777383378
|
|
NM_005634.3(SOX3):c.292G>A (p.Gly98Ser)
|
|
|
NM_005660.3(SLC35A2):c.1163+54del
|
|
|
NM_005685.4(GTF2IRD1):c.646G>T (p.Glu216Ter)
|
|
|
NM_005732.4(RAD50):c.1287A>G (p.Ile429Met)
|
rs1554098314
|
|
NM_005732.4(RAD50):c.1794-9T>C
|
rs1060504397
|
|
NM_005732.4(RAD50):c.1930A>G (p.Arg644Gly)
|
rs876659631
|
|
NM_005732.4(RAD50):c.2693T>G (p.Val898Gly)
|
rs1750958706
|
|
NM_005732.4(RAD50):c.2829+7T>C
|
|
|
NM_005732.4(RAD50):c.3390-10C>T
|
rs1751595393
|
|
NM_005732.4(RAD50):c.3390-5T>C
|
rs1561658734
|
|
NM_005732.4(RAD50):c.3841_3859del (p.Glu1281fs)
|
rs1561661862
|
|
NM_005732.4(RAD50):c.670C>T (p.Arg224Cys)
|
rs753136372
|
|
NM_005732.4(RAD50):c.677A>C (p.Gln226Pro)
|
rs1060501953
|
|
NM_005732.4(RAD50):c.699G>T (p.Gln233His)
|
rs755911947
|
|
NM_005732.4(RAD50):c.973T>C (p.Cys325Arg)
|
rs863224744
|
|
NM_005739.4(RASGRP1):c.3G>A (p.Met1Ile)
|
rs1269034575
|
|
NM_005751.5(AKAP9):c.10931T>C (p.Ile3644Thr)
|
rs367598698
|
|
NM_005751.5(AKAP9):c.11098-5T>C
|
|
|
NM_005751.5(AKAP9):c.11546+19C>T
|
rs1818692330
|
|
NM_005751.5(AKAP9):c.3291_3294del (p.Lys1097fs)
|
|
|
NM_005751.5(AKAP9):c.3493C>T (p.His1165Tyr)
|
|
|
NM_005751.5(AKAP9):c.3709A>G (p.Asn1237Asp)
|
rs1177942191
|
|
NM_005751.5(AKAP9):c.4528T>G (p.Phe1510Val)
|
rs1206384770
|
|
NM_005751.5(AKAP9):c.4665A>C (p.Lys1555Asn)
|
rs1805572997
|
|
NM_005751.5(AKAP9):c.5078_5080del (p.Gly1693del)
|
rs771190405
|
|
NM_005751.5(AKAP9):c.6330+4A>G
|
rs1460275329
|
|
NM_005751.5(AKAP9):c.6455G>A (p.Arg2152Lys)
|
|
|
NM_005751.5(AKAP9):c.6893A>G (p.Asn2298Ser)
|
rs1812855960
|
|
NM_005751.5(AKAP9):c.7074A>C (p.Lys2358Asn)
|
rs150968594
|
|
NM_005751.5(AKAP9):c.7811T>C (p.Leu2604Ser)
|
rs1563104824
|
|
NM_005751.5(AKAP9):c.7921AAG[1] (p.Lys2642del)
|
rs786205262
|
|
NM_005765.3(ATP6AP2):c.-70C>T
|
rs2146534430
|
|
NM_005787.6(ALG3):c.211T>C (p.Trp71Arg)
|
rs119103237
|
|
NM_005802.5(TOPORS):c.29C>A (p.Pro10Gln)
|
rs777171069
|
|
NM_005811.5(GDF11):c.379G>A (p.Glu127Lys)
|
|
|
NM_005816.5(CD96):c.706G>A (p.Gly236Ser)
|
|
|
NM_005850.5(SF3B4):c.400C>T (p.Arg134Trp)
|
|
|
NM_005859.5(PURA):c.102_119del (p.Gly37_Gly42del)
|
rs1184201512
|
|
NM_005861.4(STUB1):c.143G>A (p.Cys48Tyr)
|
|
|
NM_005861.4(STUB1):c.535G>A (p.Glu179Lys)
|
|
|
NM_005862.3(STAG1):c.1067G>C (p.Ser356Thr)
|
rs140171002
|
|
NM_005862.3(STAG1):c.1918T>C (p.Tyr640His)
|
|
|
NM_005862.3(STAG1):c.2371-8T>C
|
|
|
NM_005862.3(STAG1):c.2423C>T (p.Thr808Ile)
|
|
|
NM_005862.3(STAG1):c.776T>C (p.Ile259Thr)
|
|
|
NM_005883.3(APC2):c.1760A>G (p.Tyr587Cys)
|
|
|
NM_005883.3(APC2):c.2383G>A (p.Glu795Lys)
|
|
|
NM_005883.3(APC2):c.3035G>A (p.Gly1012Asp)
|
|
|
NM_005883.3(APC2):c.4076C>T (p.Ala1359Val)
|
|
|
NM_005883.3(APC2):c.4163C>T (p.Ser1388Phe)
|
|
|
NM_005883.3(APC2):c.6551G>C (p.Arg2184Pro)
|
|
|
NM_005883.3(APC2):c.93C>G (p.Asp31Glu)
|
|
|
NM_005898.5(CAPRIN1):c.989A>G (p.Gln330Arg)
|
|
|
NM_005901.6(SMAD2):c.1135+6G>C
|
|
|
NM_005902.4(SMAD3):c.1124G>T (p.Ser375Ile)
|
|
|
NM_005902.4(SMAD3):c.269G>A (p.Arg90His)
|
rs886038803
|
|
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys)
|
rs886039137
|
|
NM_005902.4(SMAD3):c.850G>C (p.Glu284Gln)
|
rs886038991
|
|
NM_005902.4(SMAD3):c.908T>A (p.Val303Asp)
|
rs1555414011
|
|
NM_005902.4(SMAD3):c.967C>T (p.Arg323Cys)
|
rs967072552
|
|
NM_005908.4(MANBA):c.2175dup (p.Ser726fs)
|
rs771465504
|
|
NM_005908.4(MANBA):c.2221A>G (p.Met741Val)
|
rs1418716363
|
|
NM_005908.4(MANBA):c.2483_2486del (p.Val828fs)
|
|
|
NM_005908.4(MANBA):c.2544_2545del (p.Lys849fs)
|
rs749997217
|
|
NM_005909.5(MAP1B):c.1573G>A (p.Val525Met)
|
|
|
NM_005909.5(MAP1B):c.1844C>T (p.Pro615Leu)
|
|
|
NM_005909.5(MAP1B):c.3745G>A (p.Glu1249Lys)
|
|
|
NM_005911.6(MAT2A):c.405+20G>A
|
|
|
NM_005932.4(MIPEP):c.890G>T (p.Gly297Val)
|
|
|
NM_005956.4(MTHFD1):c.240+6C>A
|
|
|
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr)
|
rs769381688
|
|
NM_005957.5(MTHFR):c.643_645del (p.Lys215del)
|
rs746353274
|
|
NM_005981.5(TSPAN31):c.*2217A>G
|
rs1565805871
|
|
NM_005981.5(TSPAN31):c.*2222G>T
|
rs536249985
|
|
NM_005984.5(SLC25A1):c.190T>G (p.Tyr64Asp)
|
rs2084000148
|
|
NM_005993.5(TBCD):c.1126G>A (p.Val376Met)
|
rs183349235
|
|
NM_005993.5(TBCD):c.3212T>G (p.Leu1071Trp)
|
rs2062710977
|
|
NM_005994.4(TBX2):c.131C>A (p.Pro44Gln)
|
|
|
NM_005994.4(TBX2):c.1966C>T (p.Pro656Ser)
|
|
|
NM_005996.4(TBX3):c.1616C>A (p.Thr539Lys)
|
rs757023811
|
|
NM_006000.3(TUBA4A):c.1243G>A (p.Glu415Lys)
|
|
|
NM_006005.3(WFS1):c.1381_1383del (p.Thr461del)
|
|
|
NM_006005.3(WFS1):c.1630T>A (p.Ser544Thr)
|
|
|
NM_006005.3(WFS1):c.2098T>A (p.Trp700Arg)
|
|
|
NM_006009.4(TUBA1A):c.1193T>G (p.Met398Arg)
|
rs1942164218
|
|
NM_006012.4(CLPP):c.533A>G (p.His178Arg)
|
|
|
NM_006015.6(ARID1A):c.1357C>T (p.Pro453Ser)
|
|
|
NM_006015.6(ARID1A):c.249CGG[5] (p.Gly87_Ala88insGly)
|
|
|
NM_006015.6(ARID1A):c.4078A>G (p.Thr1360Ala)
|
rs375202405
|
|
NM_006015.6(ARID1A):c.4894C>G (p.Pro1632Ala)
|
|
|
NM_006015.6(ARID1A):c.943G>A (p.Asp315Asn)
|
rs2080280611
|
|
NM_006016.6(CD164):c.-12G>A
|
|
|
NM_006030.4(CACNA2D2):c.3203C>T (p.Thr1068Met)
|
rs772333671
|
|
NM_006035.4(CDC42BPB):c.1539C>G (p.Asp513Glu)
|
|
|
NM_006035.4(CDC42BPB):c.3310-5C>T
|
|
|
NM_006035.4(CDC42BPB):c.5083dup (p.His1695fs)
|
|
|
NM_006059.4(LAMC3):c.1018C>T (p.Arg340Trp)
|
rs146887458
|
|
NM_006073.4(TRDN):c.185C>T (p.Ala62Val)
|
|
|
NM_006073.4(TRDN):c.196G>A (p.Val66Ile)
|
rs372169818
|
|
NM_006078.5(CACNG2):c.815C>T (p.Thr272Met)
|
rs759983832
|
|
NM_006079.5(CITED2):c.28C>T (p.His10Tyr)
|
|
|
NM_006086.4(TUBB3):c.1267C>T (p.Gln423Ter)
|
rs2151093129
|
|
NM_006086.4(TUBB3):c.1321G>A (p.Glu441Lys)
|
|
|
NM_006086.4(TUBB3):c.467G>A (p.Arg156His)
|
|
|
NM_006086.4(TUBB3):c.95C>G (p.Pro32Arg)
|
|
|
NM_006087.4(TUBB4A):c.523G>A (p.Val175Met)
|
|
|
NM_006087.4(TUBB4A):c.900G>A (p.Met300Ile)
|
|
|
NM_006096.4(NDRG1):c.964C>T (p.Arg322Cys)
|
rs368404338
|
|
NM_006129.5(BMP1):c.1757G>A (p.Arg586His)
|
|
|
NM_006129.5(BMP1):c.2350C>G (p.Arg784Gly)
|
rs202128760
|
|
NM_006147.4(IRF6):c.632A>C (p.Tyr211Ser)
|
|
|
NM_006164.5(NFE2L2):c.1193A>C (p.His398Pro)
|
|
|
NM_006164.5(NFE2L2):c.941A>G (p.Asn314Ser)
|
|
|
NM_006172.4(NPPA):c.217G>A (p.Ala73Thr)
|
|
|
NM_006180.6(NTRK2):c.208G>A (p.Glu70Lys)
|
|
|
NM_006182.4(DDR2):c.1421T>C (p.Ile474Thr)
|
|
|
NM_006182.4(DDR2):c.779G>A (p.Arg260Gln)
|
|
|
NM_006186.4(NR4A2):c.1159-3C>T
|
|
|
NM_006214.4(PHYH):c.668C>G (p.Pro223Arg)
|
|
|
NM_006214.4(PHYH):c.973A>G (p.Met325Val)
|
rs145020360
|
|
NM_006218.4(PIK3CA):c.1059+8C>T
|
|
|
NM_006218.4(PIK3CA):c.317G>A (p.Gly106Asp)
|
rs1057519930
|
|
NM_006231.4(POLE):c.1016A>T (p.Asp339Val)
|
rs1060500865
|
|
NM_006231.4(POLE):c.1231G>C (p.Val411Leu)
|
rs1057519945
|
|
NM_006231.4(POLE):c.1231G>T (p.Val411Leu)
|
rs1057519945
|
|
NM_006231.4(POLE):c.1306C>T (p.Pro436Ser)
|
rs1565973210
|
|
NM_006231.4(POLE):c.1354C>A (p.Pro452Thr)
|
rs1555228573
|
|
NM_006231.4(POLE):c.1858C>T (p.Pro620Ser)
|
rs979085449
|
|
NM_006231.4(POLE):c.1924-23_1927del
|
rs1064795679
|
|
NM_006231.4(POLE):c.2236A>G (p.Ile746Val)
|
rs1480527153
|
|
NM_006231.4(POLE):c.2935C>A (p.Leu979Met)
|
|
|
NM_006231.4(POLE):c.4157G>A (p.Arg1386Gln)
|
rs969355093
|
|
NM_006231.4(POLE):c.423+82A>G
|
|
|
NM_006231.4(POLE):c.4249G>C (p.Glu1417Gln)
|
rs1593735965
|
|
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly)
|
rs766511597
|
|
NM_006231.4(POLE):c.4529_4530inv (p.Ala1510Val)
|
|
|
NM_006231.4(POLE):c.5354C>T (p.Thr1785Ile)
|
rs1269441689
|
|
NM_006231.4(POLE):c.5590A>T (p.Ile1864Phe)
|
rs2042070838
|
|
NM_006231.4(POLE):c.5972C>G (p.Ser1991Cys)
|
rs1593711899
|
|
NM_006231.4(POLE):c.62+5G>C
|
rs1037695225
|
|
NM_006231.4(POLE):c.6208A>G (p.Ile2070Val)
|
rs763607284
|
|
NM_006231.4(POLE):c.6518_6519del (p.Ser2173fs)
|
rs774417192
|
|
NM_006245.4(PPP2R5D):c.1718C>T (p.Ser573Leu)
|
|
|
NM_006245.4(PPP2R5D):c.278A>T (p.Asn93Ile)
|
|
|
NM_006265.3(RAD21):c.1252A>C (p.Lys418Gln)
|
rs1812375108
|
|
NM_006267.5(RANBP2):c.1282C>T (p.Arg428Ter)
|
|
|
NM_006267.5(RANBP2):c.3387T>G (p.Asp1129Glu)
|
rs142454773
|
|
NM_006267.5(RANBP2):c.737C>G (p.Thr246Arg)
|
rs770986482
|
|
NM_006267.5(RANBP2):c.7625G>T (p.Gly2542Val)
|
rs1677244353
|
|
NM_006270.5(RRAS):c.*5G>A
|
|
|
NM_006270.5(RRAS):c.344+6del
|
rs1482812198
|
|
NM_006270.5(RRAS):c.345-2A>C
|
rs2080998112
|
|
NM_006270.5(RRAS):c.355G>A (p.Val119Met)
|
|
|
NM_006270.5(RRAS):c.423del (p.Asn142fs)
|
rs775018539
|
|
NM_006270.5(RRAS):c.571C>T (p.Arg191Trp)
|
|
|
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln)
|
rs759803129
|
|
NM_006280.3(SSR4):c.257A>T (p.Tyr86Phe)
|
|
|
NM_006280.3(SSR4):c.480C>G (p.Ile160Met)
|
|
|
NM_006295.3(VARS1):c.2169G>C (p.Arg723Ser)
|
|
|
NM_006306.4(SMC1A):c.88A>G (p.Ile30Val)
|
|
|
NM_006329.4(FBLN5):c.1226C>T (p.Pro409Leu)
|
|
|
NM_006348.5(COG5):c.1686G>T (p.Lys562Asn)
|
|
|
NM_006361.6(HOXB13):c.853del (p.Ter285LysextTer?)
|
rs77179853
|
|
NM_006361.6(HOXB13):c.86C>T (p.Ala29Val)
|
|
|
NM_006363.6(SEC23B):c.1254T>G (p.Ile418Met)
|
|
|
NM_006390.4(IPO8):c.1756-5C>G
|
|
|
NM_006393.3(NEBL):c.1037del (p.Asn346fs)
|
rs767349615
|
|
NM_006393.3(NEBL):c.136A>G (p.Thr46Ala)
|
rs751607557
|
|
NM_006397.3(RNASEH2A):c.322C>G (p.Arg108Gly)
|
rs76436818
|
|
NM_006412.4(AGPAT2):c.835T>C (p.Ter279Gln)
|
|
|
NM_006415.4(SPTLC1):c.1082-7delinsAT
|
|
|
NM_006415.4(SPTLC1):c.690+1G>A
|
|
|
NM_006421.5(ARFGEF1):c.1031T>C (p.Met344Thr)
|
|
|
NM_006421.5(ARFGEF1):c.1303A>G (p.Met435Val)
|
|
|
NM_006421.5(ARFGEF1):c.1338-20_1338-18dup
|
|
|
NM_006421.5(ARFGEF1):c.3212G>A (p.Gly1071Glu)
|
|
|
NM_006496.4(GNAI3):c.986C>T (p.Thr329Met)
|
rs1316507687
|
|
NM_006502.3(POLH):c.1234C>A (p.Gln412Lys)
|
|
|
NM_006502.3(POLH):c.1833del (p.Lys611fs)
|
|
|
NM_006502.3(POLH):c.490+3A>G
|
|
|
NM_006506.5(RASA2):c.-15G>T
|
rs767937276
|
|
NM_006506.5(RASA2):c.1116T>A (p.Asp372Glu)
|
rs2082919565
|
|
NM_006506.5(RASA2):c.1126C>T (p.Pro376Ser)
|
|
|
NM_006506.5(RASA2):c.1170-8T>C
|
|
|
NM_006506.5(RASA2):c.133+9G>A
|
rs1353085625
|
|
NM_006506.5(RASA2):c.1382_1479dup (p.Pro494delinsThrSerTyrSerIleGlnLeuTer)
|
rs2082966552
|
|
NM_006506.5(RASA2):c.1484-4G>A
|
|
|
NM_006506.5(RASA2):c.1577G>A (p.Arg526Gln)
|
|
|
NM_006506.5(RASA2):c.1580C>T (p.Pro527Leu)
|
rs2083025042
|
|
NM_006506.5(RASA2):c.1660C>G (p.Leu554Val)
|
|
|
NM_006506.5(RASA2):c.1675-7T>G
|
rs2107770441
|
|
NM_006506.5(RASA2):c.1751_1752+2delinsGGG
|
|
|
NM_006506.5(RASA2):c.1751del (p.Lys584fs)
|
|
|
NM_006506.5(RASA2):c.1752+2T>G
|
|
|
NM_006506.5(RASA2):c.2020_2021insAT (p.Phe674fs)
|
rs2107801496
|
|
NM_006506.5(RASA2):c.2129G>A (p.Arg710Lys)
|
rs2083586079
|
|
NM_006506.5(RASA2):c.2226-39_2226-17dup
|
rs2083600348
|
|
NM_006506.5(RASA2):c.2230G>T (p.Val744Phe)
|
rs1463774211
|
|
NM_006506.5(RASA2):c.2330-13C>T
|
|
|
NM_006506.5(RASA2):c.2330-2A>G
|
|
|
NM_006506.5(RASA2):c.248T>G (p.Leu83Ter)
|
|
|
NM_006506.5(RASA2):c.2519+18T>G
|
rs2083613884
|
|
NM_006506.5(RASA2):c.2546C>T (p.Ser849Phe)
|
|
|
NM_006506.5(RASA2):c.286C>A (p.Pro96Thr)
|
rs761761007
|
|
NM_006506.5(RASA2):c.299A>G (p.Gln100Arg)
|
rs1235489668
|
|
NM_006506.5(RASA2):c.374A>G (p.Lys125Arg)
|
|
|
NM_006506.5(RASA2):c.374_443dup (p.Glu148_Val149insArgArgLeuValTer)
|
rs2082232970
|
|
NM_006506.5(RASA2):c.48del (p.Ala17fs)
|
|
|
NM_006506.5(RASA2):c.49del (p.Ala17fs)
|
|
|
NM_006506.5(RASA2):c.610A>G (p.Arg204Gly)
|
|
|
NM_006506.5(RASA2):c.684+15dup
|
rs769572165
|
|
NM_006506.5(RASA2):c.932_934del (p.Leu311_Asn312delinsTyr)
|
rs2082909407
|
|
NM_006514.4(SCN10A):c.1977T>G (p.Phe659Leu)
|
rs1346592471
|
|
NM_006514.4(SCN10A):c.5488A>G (p.Met1830Val)
|
rs1253727199
|
|
NM_006516.4(SLC2A1):c.1084C>T (p.Pro362Ser)
|
|
|
NM_006516.4(SLC2A1):c.1261T>C (p.Cys421Arg)
|
rs1557644984
|
|
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.73C>A (p.Gln25Lys)
|
rs1165759782
|
|
NM_006516.4(SLC2A1):c.945C>G (p.Ile315Met)
|
rs780528770
|
|
NM_006517.5(SLC16A2):c.334G>C (p.Gly112Arg)
|
rs1928309226
|
|
NM_006545.5(NPRL2):c.101G>A (p.Arg34Gln)
|
|
|
NM_006545.5(NPRL2):c.640G>C (p.Asp214His)
|
|
|
NM_006565.4(CTCF):c.1079G>T (p.Ser360Ile)
|
rs1597718106
|
|
NM_006565.4(CTCF):c.1369C>G (p.Arg457Gly)
|
|
|
NM_006565.4(CTCF):c.523G>A (p.Val175Met)
|
|
|
NM_006618.5(KDM5B):c.1822-3C>T
|
|
|
NM_006623.4(PHGDH):c.1538C>T (p.Ser513Phe)
|
|
|
NM_006623.4(PHGDH):c.781G>A (p.Val261Met)
|
rs267606947
|
|
NM_006642.5(SDCCAG8):c.2071_2072del (p.Arg691fs)
|
|
|
NM_006642.5(SDCCAG8):c.2138_*5delinsTCACA (p.Cys713fs)
|
rs2148331600
|
|
NM_006642.5(SDCCAG8):c.257A>T (p.Asp86Val)
|
rs2149264026
|
|
NM_006642.5(SDCCAG8):c.740+301G>A
|
|
|
NM_006659.4(TUBGCP2):c.1542-2A>G
|
|
|
NM_006659.4(TUBGCP2):c.824+1G>C
|
|
|
NM_006662.3(SRCAP):c.2221C>T (p.Arg741Cys)
|
|
|
NM_006662.3(SRCAP):c.3248C>G (p.Pro1083Arg)
|
rs1288652197
|
|
NM_006662.3(SRCAP):c.3991C>A (p.Pro1331Thr)
|
|
|
NM_006662.3(SRCAP):c.4055G>A (p.Arg1352Gln)
|
|
|
NM_006662.3(SRCAP):c.4082C>T (p.Ala1361Val)
|
|
|
NM_006662.3(SRCAP):c.5677C>T (p.Arg1893Trp)
|
|
|
NM_006662.3(SRCAP):c.6297+17C>T
|
|
|
NM_006662.3(SRCAP):c.7409C>T (p.Ala2470Val)
|
|
|
NM_006662.3(SRCAP):c.7520C>T (p.Pro2507Leu)
|
rs2053173193
|
|
NM_006662.3(SRCAP):c.8222C>T (p.Pro2741Leu)
|
|
|
NM_006662.3(SRCAP):c.9563G>A (p.Arg3188His)
|
|
|
NM_006715.4(MAN2C1):c.768del (p.His258fs)
|
|
|
NM_006734.4(HIVEP2):c.2202G>A (p.Met734Ile)
|
|
|
NM_006734.4(HIVEP2):c.2270G>A (p.Arg757His)
|
|
|
NM_006734.4(HIVEP2):c.227T>C (p.Val76Ala)
|
rs2114665769
|
|
NM_006734.4(HIVEP2):c.3343C>T (p.Leu1115Phe)
|
rs1179177419
|
|
NM_006734.4(HIVEP2):c.3569T>G (p.Phe1190Cys)
|
|
|
NM_006734.4(HIVEP2):c.4502C>A (p.Ala1501Asp)
|
|
|
NM_006734.4(HIVEP2):c.4910A>G (p.Gln1637Arg)
|
|
|
NM_006734.4(HIVEP2):c.5060C>A (p.Thr1687Asn)
|
|
|
NM_006734.4(HIVEP2):c.5620+9G>T
|
|
|
NM_006734.4(HIVEP2):c.6004T>G (p.Phe2002Val)
|
|
|
NM_006766.5(KAT6A):c.2849A>G (p.Gln950Arg)
|
|
|
NM_006766.5(KAT6A):c.2968_2969delinsAT (p.Glu990Met)
|
|
|
NM_006766.5(KAT6A):c.3053A>T (p.His1018Leu)
|
|
|
NM_006766.5(KAT6A):c.4669G>A (p.Glu1557Lys)
|
|
|
NM_006766.5(KAT6A):c.4673G>A (p.Ser1558Asn)
|
|
|
NM_006766.5(KAT6A):c.4847G>C (p.Cys1616Ser)
|
|
|
NM_006766.5(KAT6A):c.795C>G (p.Cys265Trp)
|
rs1194154094
|
|
NM_006767.4(LZTR1):c.1175C>A (p.Ala392Glu)
|
|
|
NM_006767.4(LZTR1):c.11dup (p.Ser6fs)
|
rs1369717076
|
|
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.1341C>A (p.Phe447Leu)
|
rs201016956
|
|
NM_006767.4(LZTR1):c.1373G>C (p.Gly458Ala)
|
|
|
NM_006767.4(LZTR1):c.1379T>C (p.Val460Ala)
|
rs982153864
|
|
NM_006767.4(LZTR1):c.1468G>A (p.Ala490Thr)
|
|
|
NM_006767.4(LZTR1):c.1496_1590dup (p.Asp531fs)
|
rs1924717764
|
|
NM_006767.4(LZTR1):c.1513C>T (p.Arg505Trp)
|
rs770974858
|
|
NM_006767.4(LZTR1):c.1561T>G (p.Phe521Val)
|
rs1924722057
|
|
NM_006767.4(LZTR1):c.160T>G (p.Trp54Gly)
|
|
|
NM_006767.4(LZTR1):c.1674G>C (p.Gln558His)
|
|
|
NM_006767.4(LZTR1):c.1735_1785+8dup
|
rs1924758509
|
|
NM_006767.4(LZTR1):c.1753_1754del (p.Ser585fs)
|
|
|
NM_006767.4(LZTR1):c.1764_1785+8dup
|
rs1924760583
|
|
NM_006767.4(LZTR1):c.1785G>A (p.Lys595=)
|
|
|
NM_006767.4(LZTR1):c.1835T>A (p.Ile612Asn)
|
|
|
NM_006767.4(LZTR1):c.1862C>T (p.Ser621Phe)
|
rs1389937904
|
|
NM_006767.4(LZTR1):c.1958A>G (p.Gln653Arg)
|
|
|
NM_006767.4(LZTR1):c.200G>C (p.Arg67Pro)
|
|
|
NM_006767.4(LZTR1):c.2070-15G>A
|
rs1601722962
|
|
NM_006767.4(LZTR1):c.211C>T (p.His71Tyr)
|
rs1438837277
|
|
NM_006767.4(LZTR1):c.2134G>C (p.Glu712Gln)
|
rs1409419929
|
|
NM_006767.4(LZTR1):c.2258del (p.Asn753fs)
|
|
|
NM_006767.4(LZTR1):c.2406+15C>T
|
rs1350762782
|
|
NM_006767.4(LZTR1):c.2407-20C>A
|
rs1924894264
|
|
NM_006767.4(LZTR1):c.2440_2444dup (p.Gln815fs)
|
rs1467667029
|
|
NM_006767.4(LZTR1):c.2457CAT[1] (p.Ile821del)
|
|
|
NM_006767.4(LZTR1):c.2468C>T (p.Ser823Phe)
|
|
|
NM_006767.4(LZTR1):c.250G>C (p.Gly84Arg)
|
rs774010552
|
|
NM_006767.4(LZTR1):c.320+13G>C
|
|
|
NM_006767.4(LZTR1):c.320+1G>A
|
rs943939913
|
|
NM_006767.4(LZTR1):c.347C>T (p.Ala116Val)
|
|
|
NM_006767.4(LZTR1):c.352del (p.Arg118fs)
|
rs1486960809
|
|
NM_006767.4(LZTR1):c.368C>T (p.Ala123Val)
|
|
|
NM_006767.4(LZTR1):c.370GTC[1] (p.Val125del)
|
rs755783378
|
|
NM_006767.4(LZTR1):c.373G>C (p.Val125Leu)
|
|
|
NM_006767.4(LZTR1):c.400+1G>C
|
rs1555927561
|
|
NM_006767.4(LZTR1):c.401-15A>C
|
rs1924457413
|
|
NM_006767.4(LZTR1):c.401-1G>C
|
rs747225246
|
|
NM_006767.4(LZTR1):c.428A>G (p.Asn143Ser)
|
|
|
NM_006767.4(LZTR1):c.436T>G (p.Leu146Val)
|
rs1555927611
|
|
NM_006767.4(LZTR1):c.44C>T (p.Ala15Val)
|
rs2147956758
|
|
NM_006767.4(LZTR1):c.510-60_530dup
|
rs1924491968
|
|
NM_006767.4(LZTR1):c.524G>T (p.Arg175Met)
|
rs1924495083
|
|
NM_006767.4(LZTR1):c.578A>G (p.Tyr193Cys)
|
rs1870169267
|
|
NM_006767.4(LZTR1):c.584G>A (p.Gly195Asp)
|
rs777756228
|
|
NM_006767.4(LZTR1):c.594-105_594-14dup
|
rs1924518604
|
|
NM_006767.4(LZTR1):c.652-12C>G
|
rs1924560781
|
|
NM_006767.4(LZTR1):c.686G>C (p.Cys229Ser)
|
rs2147964025
|
|
NM_006767.4(LZTR1):c.714_783dup (p.Asp262delinsGlnAspValCysIleLeuTrpAlaLysArgSerGlnAsnAsnGlnGlnProLeuProValTer)
|
rs1924566447
|
|
NM_006767.4(LZTR1):c.727T>C (p.Phe243Leu)
|
rs2147964079
|
|
NM_006767.4(LZTR1):c.824_921dup (p.Pro308fs)
|
rs1924610101
|
|
NM_006767.4(LZTR1):c.851G>A (p.Arg284His)
|
rs768361273
|
|
NM_006767.4(LZTR1):c.901G>C (p.Gly301Arg)
|
|
|
NM_006772.3(SYNGAP1):c.1559C>T (p.Ser520Phe)
|
|
|
NM_006772.3(SYNGAP1):c.2336+7G>A
|
|
|
NM_006772.3(SYNGAP1):c.2835T>A (p.His945Gln)
|
|
|
NM_006772.3(SYNGAP1):c.3002T>C (p.Leu1001Pro)
|
|
|
NM_006772.3(SYNGAP1):c.387+8G>A
|
|
|
NM_006772.3(SYNGAP1):c.958G>A (p.Val320Ile)
|
|
|
NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser)
|
|
|
NM_006790.3(MYOT):c.1336del (p.Gln446fs)
|
|
|
NM_006790.3(MYOT):c.956G>A (p.Gly319Glu)
|
rs1330407694
|
|
NM_006796.3(AFG3L2):c.1040C>G (p.Thr347Ser)
|
rs1191222406
|
|
NM_006796.3(AFG3L2):c.1780-9A>C
|
|
|
NM_006796.3(AFG3L2):c.1838A>C (p.Gln613Pro)
|
|
|
NM_006796.3(AFG3L2):c.2062C>G (p.Pro688Ala)
|
rs797045221
|
|
NM_006796.3(AFG3L2):c.2140G>A (p.Ala714Thr)
|
|
|
NM_006796.3(AFG3L2):c.2372C>T (p.Pro791Leu)
|
|
|
NM_006852.6(TLK2):c.1859+16C>T
|
|
|
NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser)
|
rs150736372
|
|
NM_006895.3(HNMT):c.475del (p.His159fs)
|
rs765863580
|
|
NM_006901.4(MYO9A):c.4550G>A (p.Arg1517His)
|
rs149046541
|
|
NM_006904.7(PRKDC):c.11050T>C (p.Ser3684Pro)
|
rs2154497615
|
|
NM_006904.7(PRKDC):c.154+19T>C
|
rs2154504861
|
|
NM_006904.7(PRKDC):c.5181G>C (p.Arg1727Ser)
|
rs1363640503
|
|
NM_006904.7(PRKDC):c.5750+2_5750+5del
|
rs2154500742
|
|
NM_006904.7(PRKDC):c.9556C>T (p.Arg3186Ter)
|
|
|
NM_006904.7(PRKDC):c.9557+2T>A
|
|
|
NM_006904.7(PRKDC):c.9749A>G (p.Asn3250Ser)
|
|
|
NM_006907.4(PYCR1):c.148G>A (p.Val50Met)
|
rs550125238
|
|
NM_006907.4(PYCR1):c.321G>A (p.Lys107=)
|
|
|
NM_006907.4(PYCR1):c.515G>A (p.Gly172Glu)
|
|
|
NM_006907.4(PYCR1):c.635G>A (p.Gly212Glu)
|
rs1194906519
|
|
NM_006907.4(PYCR1):c.778G>C (p.Ala260Pro)
|
|
|
NM_006907.4(PYCR1):c.820C>T (p.Gln274Ter)
|
rs767043460
|
|
NM_006908.5(RAC1):c.35+2T>G
|
|
|
NM_006912.6(RIT1):c.113C>G (p.Thr38Ser)
|
rs2102590960
|
|
NM_006912.6(RIT1):c.272G>A (p.Arg91Lys)
|
rs2102584832
|
|
NM_006912.6(RIT1):c.29G>T (p.Ser10Ile)
|
|
|
NM_006912.6(RIT1):c.358C>G (p.Arg120Gly)
|
rs2102584744
|
|
NM_006912.6(RIT1):c.437A>G (p.Lys146Arg)
|
|
|
NM_006912.6(RIT1):c.532C>G (p.Leu178Val)
|
rs730881013
|
|
NM_006912.6(RIT1):c.563_648dup (p.Ser217delinsArgGlnTyrTrpProTrpArgLysAsnLeuSerProLysThrValTyrGlyArgGlyTer)
|
rs1673287743
|
|
NM_006912.6(RIT1):c.589T>C (p.Ser197Pro)
|
rs1673289658
|
|
NM_006912.6(RIT1):c.659GAAGA[1] (p.Ter220=)
|
rs777195602
|
|
NM_006912.6(RIT1):c.78G>A (p.Met26Ile)
|
|
|
NM_006929.5(SKIC2):c.919-3_919-2insCA
|
|
|
NM_006939.4(SOS2):c.1068+17_1068+18del
|
|
|
NM_006939.4(SOS2):c.1197-11G>C
|
|
|
NM_006939.4(SOS2):c.1310A>G (p.Gln437Arg)
|
|
|
NM_006939.4(SOS2):c.1323A>T (p.Glu441Asp)
|
|
|
NM_006939.4(SOS2):c.1429C>T (p.Arg477Trp)
|
rs1555370121
|
|
NM_006939.4(SOS2):c.1564ATA[1] (p.Ile523del)
|
|
|
NM_006939.4(SOS2):c.1844T>C (p.Met615Thr)
|
|
|
NM_006939.4(SOS2):c.1895T>G (p.Phe632Cys)
|
rs373142212
|
|
NM_006939.4(SOS2):c.1934+12A>G
|
rs1054073809
|
|
NM_006939.4(SOS2):c.213+7A>C
|
rs1886593848
|
|
NM_006939.4(SOS2):c.2162-27_2231dup
|
rs1884615891
|
|
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val)
|
rs1566827698
|
|
NM_006939.4(SOS2):c.2234_2278dup (p.Gly745_Ile759dup)
|
rs1884613778
|
|
NM_006939.4(SOS2):c.2701G>A (p.Glu901Lys)
|
rs556373963
|
|
NM_006939.4(SOS2):c.2959-20T>G
|
rs375042033
|
|
NM_006939.4(SOS2):c.3076-19T>C
|
|
|
NM_006939.4(SOS2):c.3089C>G (p.Thr1030Ser)
|
|
|
NM_006939.4(SOS2):c.3157C>T (p.Arg1053Ter)
|
rs1883839880
|
|
NM_006939.4(SOS2):c.3163_3183dup (p.Arg1061_Glu1062insHisProThrProLeuGluArg)
|
|
|
NM_006939.4(SOS2):c.3302G>A (p.Ser1101Asn)
|
rs1419463844
|
|
NM_006939.4(SOS2):c.3337+4A>G
|
rs924531063
|
|
NM_006939.4(SOS2):c.346-10_346-8del
|
|
|
NM_006939.4(SOS2):c.3544C>T (p.Pro1182Ser)
|
|
|
NM_006939.4(SOS2):c.3584C>G (p.Ala1195Gly)
|
|
|
NM_006939.4(SOS2):c.3679T>G (p.Phe1227Val)
|
|
|
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
|
|
|
NM_006939.4(SOS2):c.445G>A (p.Val149Ile)
|
|
|
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser)
|
rs61755579
|
|
NM_006939.4(SOS2):c.624_673dup (p.Arg225delinsGlnLysLysAspSerIleTyrGlyAsnTer)
|
rs1886002059
|
|
NM_006939.4(SOS2):c.769_858+8dup
|
rs1885775324
|
|
NM_006939.4(SOS2):c.858+12A>G
|
rs1318750223
|
|
NM_006939.4(SOS2):c.944G>A (p.Arg315Lys)
|
rs2139702139
|
|
NM_006939.4(SOS2):c.970-24_1037dup
|
rs1885463095
|
|
NM_006939.4(SOS2):c.985_1064dup (p.Lys356fs)
|
rs1885462206
|
|
NM_006940.6(SOX5):c.811-4G>A
|
|
|
NM_006940.6(SOX5):c.982G>A (p.Ala328Thr)
|
|
|
NM_006941.4(SOX10):c.1252G>A (p.Ala418Thr)
|
|
|
NM_006946.4(SPTBN2):c.1282G>T (p.Ala428Ser)
|
|
|
NM_006946.4(SPTBN2):c.2305C>G (p.Leu769Val)
|
|
|
NM_006946.4(SPTBN2):c.266G>A (p.Arg89His)
|
rs374485184
|
|
NM_006946.4(SPTBN2):c.2779G>A (p.Asp927Asn)
|
|
|
NM_006946.4(SPTBN2):c.4964T>C (p.Ile1655Thr)
|
|
|
NM_006946.4(SPTBN2):c.5190+6T>C
|
|
|
NM_006946.4(SPTBN2):c.5377C>G (p.Arg1793Gly)
|
rs1314673381
|
|
NM_006946.4(SPTBN2):c.5659G>A (p.Glu1887Lys)
|
|
|
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro)
|
rs35490401
|
|
NM_006949.4(STXBP2):c.1630A>G (p.Met544Val)
|
rs1263938690
|
|
NM_006949.4(STXBP2):c.1674G>T (p.Glu558Asp)
|
rs780461960
|
|
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr)
|
rs397514680
|
|
NM_006950.3(SYN1):c.1765G>A (p.Gly589Ser)
|
|
|
NM_006950.3(SYN1):c.1925A>G (p.Gln642Arg)
|
|
|
NM_006982.3(ALX1):c.149T>C (p.Val50Ala)
|
|
|
NM_006996.3(SLC19A2):c.1033G>A (p.Ala345Thr)
|
|
|
NM_007050.6(PTPRT):c.89-1G>A
|
|
|
NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu)
|
rs267608668
|
|
NM_007078.3(LDB3):c.1115T>C (p.Val372Ala)
|
|
|
NM_007078.3(LDB3):c.1327C>T (p.Pro443Ser)
|
|
|
NM_007078.3(LDB3):c.1349T>C (p.Val450Ala)
|
rs1407391787
|
|
NM_007078.3(LDB3):c.1353_1354inv (p.Thr452Ala)
|
|
|
NM_007078.3(LDB3):c.1387C>T (p.Pro463Ser)
|
|
|
NM_007078.3(LDB3):c.1597del (p.Arg533fs)
|
|
|
NM_007078.3(LDB3):c.1609del (p.Gln537fs)
|
rs727503129
|
|
NM_007078.3(LDB3):c.1857+8G>T
|
rs1846943768
|
|
NM_007078.3(LDB3):c.811C>T (p.Gln271Ter)
|
rs2132415645
|
|
NM_007078.3(LDB3):c.859+5G>C
|
|
|
NM_007078.3(LDB3):c.94-1G>C
|
|
|
NM_007103.4(NDUFV1):c.383G>A (p.Arg128Gln)
|
rs778295360
|
|
NM_007103.4(NDUFV1):c.733G>A (p.Val245Met)
|
|
|
NM_007103.4(NDUFV1):c.76G>A (p.Ala26Thr)
|
|
|
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu)
|
rs573896386
|
|
NM_007118.4(TRIO):c.1053+8C>T
|
|
|
NM_007118.4(TRIO):c.2167G>T (p.Val723Leu)
|
|
|
NM_007118.4(TRIO):c.3716G>A (p.Arg1239Lys)
|
rs2152361600
|
|
NM_007118.4(TRIO):c.3881+3A>T
|
|
|
NM_007118.4(TRIO):c.4951A>G (p.Ser1651Gly)
|
|
|
NM_007118.4(TRIO):c.5638C>T (p.Leu1880Phe)
|
|
|
NM_007118.4(TRIO):c.5926G>C (p.Glu1976Gln)
|
|
|
NM_007118.4(TRIO):c.7059CTC[1] (p.Ser2355del)
|
|
|
NM_007118.4(TRIO):c.7444G>C (p.Gly2482Arg)
|
|
|
NM_007118.4(TRIO):c.761G>A (p.Arg254Gln)
|
|
|
NM_007118.4(TRIO):c.8332+6C>T
|
|
|
NM_007118.4(TRIO):c.8915C>A (p.Thr2972Asn)
|
|
|
NM_007118.4(TRIO):c.905C>T (p.Ala302Val)
|
|
|
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu)
|
rs563752762
|
|
NM_007194.4(CHEK2):c.1013T>G (p.Leu338Arg)
|
rs374660293
|
|
NM_007194.4(CHEK2):c.104C>G (p.Ser35Cys)
|
rs786203185
|
|
NM_007194.4(CHEK2):c.1054A>T (p.Asn352Tyr)
|
rs1361935182
|
|
NM_007194.4(CHEK2):c.1055A>G (p.Asn352Ser)
|
rs764181318
|
|
NM_007194.4(CHEK2):c.1114T>A (p.Ser372Thr)
|
rs1555913901
|
|
NM_007194.4(CHEK2):c.1160C>T (p.Thr387Ile)
|
rs587780168
|
|
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.1243G>A (p.Val415Ile)
|
rs1601721900
|
|
NM_007194.4(CHEK2):c.1246_1248del (p.Ile416del)
|
rs760118917
|
|
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr)
|
rs549755590
|
|
NM_007194.4(CHEK2):c.1288C>T (p.His430Tyr)
|
rs1601719955
|
|
NM_007194.4(CHEK2):c.1354T>C (p.Trp452Arg)
|
rs764449869
|
|
NM_007194.4(CHEK2):c.1375+10T>C
|
rs2052511807
|
|
NM_007194.4(CHEK2):c.1447C>T (p.His483Tyr)
|
rs786203490
|
|
NM_007194.4(CHEK2):c.1490A>T (p.Asp497Val)
|
rs549945536
|
|
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)
|
rs587782489
|
|
NM_007194.4(CHEK2):c.1542+7G>A
|
rs4035547
|
|
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln)
|
rs587780180
|
|
NM_007194.4(CHEK2):c.1567del (p.Arg523fs)
|
rs587782684
|
|
NM_007194.4(CHEK2):c.1570G>A (p.Glu524Lys)
|
rs876658872
|
|
NM_007194.4(CHEK2):c.1591G>C (p.Glu531Gln)
|
rs587781710
|
|
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys)
|
rs576248104
|
|
NM_007194.4(CHEK2):c.185C>T (p.Ser62Phe)
|
rs876659424
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg)
|
rs17883862
|
|
NM_007194.4(CHEK2):c.319+8C>A
|
rs776443322
|
|
NM_007194.4(CHEK2):c.320-5T>C
|
rs121908700
|
|
NM_007194.4(CHEK2):c.328A>G (p.Asn110Asp)
|
rs878854919
|
|
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly)
|
rs876660482
|
|
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr)
|
rs72552323
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007194.4(CHEK2):c.482A>G (p.Glu161Gly)
|
rs730881683
|
|
NM_007194.4(CHEK2):c.488A>G (p.His163Arg)
|
rs752304641
|
|
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr)
|
rs786203973
|
|
NM_007194.4(CHEK2):c.593-11_593-7del
|
rs863224414
|
|
NM_007194.4(CHEK2):c.601T>G (p.Phe201Val)
|
rs786202416
|
|
NM_007194.4(CHEK2):c.609T>G (p.Asp203Glu)
|
rs587781563
|
|
NM_007194.4(CHEK2):c.684-4C>A
|
rs121908695
|
|
NM_007194.4(CHEK2):c.684-8C>T
|
rs1555921406
|
|
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val)
|
rs779457035
|
|
NM_007194.4(CHEK2):c.749T>C (p.Ile250Thr)
|
rs1060502719
|
|
NM_007194.4(CHEK2):c.772A>G (p.Ile258Val)
|
rs876658690
|
|
NM_007194.4(CHEK2):c.776G>A (p.Gly259Asp)
|
|
|
NM_007194.4(CHEK2):c.77C>A (p.Thr26Asn)
|
rs878854923
|
|
NM_007194.4(CHEK2):c.797C>T (p.Pro266Leu)
|
rs786203778
|
|
NM_007194.4(CHEK2):c.839T>C (p.Leu280Pro)
|
rs1490781911
|
|
NM_007194.4(CHEK2):c.908+7A>T
|
rs2052973187
|
|
NM_007212.4(RNF2):c.248+11A>T
|
|
|
NM_007214.5(SEC63):c.340-10_340-7del
|
rs66526324
|
|
NM_007215.4(POLG2):c.1265A>C (p.Gln422Pro)
|
|
|
NM_007215.4(POLG2):c.130G>C (p.Val44Leu)
|
|
|
NM_007254.4(PNKP):c.1288_1298+6dup
|
rs1555810844
|
|
NM_007289.4(MME):c.1500G>T (p.Leu500Phe)
|
|
|
NM_007289.4(MME):c.1557A>C (p.Gln519His)
|
|
|
NM_007289.4(MME):c.1601+4C>T
|
|
|
NM_007289.4(MME):c.197-3C>T
|
|
|
NM_007289.4(MME):c.993G>T (p.Met331Ile)
|
|
|
NM_007294.3(BRCA1):c.5193+3_5193+15del
|
rs273901752
|
|
NM_007294.4(BRCA1):c.*14C>G
|
rs1064796142
|
|
NM_007294.4(BRCA1):c.-1A>G
|
rs587781565
|
|
NM_007294.4(BRCA1):c.-3G>C
|
rs273900720
|
|
NM_007294.4(BRCA1):c.1005C>A (p.Ser335Arg)
|
rs876660367
|
|
NM_007294.4(BRCA1):c.1021G>T (p.Asp341Tyr)
|
rs756987689
|
|
NM_007294.4(BRCA1):c.1036C>G (p.Pro346Ala)
|
rs80357015
|
|
NM_007294.4(BRCA1):c.1061A>T (p.Asn354Ile)
|
rs1555592577
|
|
NM_007294.4(BRCA1):c.107C>A (p.Ser36Tyr)
|
rs183557525
|
|
NM_007294.4(BRCA1):c.1121C>T (p.Thr374Ile)
|
rs80357235
|
|
NM_007294.4(BRCA1):c.1135A>G (p.Ile379Val)
|
rs864622723
|
|
NM_007294.4(BRCA1):c.1142A>G (p.Lys381Arg)
|
rs1555592379
|
|
NM_007294.4(BRCA1):c.1145T>C (p.Val382Ala)
|
rs2053985286
|
|
NM_007294.4(BRCA1):c.1155G>T (p.Trp385Cys)
|
rs876660558
|
|
NM_007294.4(BRCA1):c.1181G>T (p.Gly394Val)
|
rs1555592295
|
|
NM_007294.4(BRCA1):c.1202G>A (p.Gly401Glu)
|
rs397507184
|
|
NM_007294.4(BRCA1):c.1212A>C (p.Glu404Asp)
|
rs1057521863
|
|
NM_007294.4(BRCA1):c.1231G>C (p.Asp411His)
|
rs80357301
|
|
NM_007294.4(BRCA1):c.1256T>G (p.Val419Gly)
|
rs398122628
|
|
NM_007294.4(BRCA1):c.1273T>C (p.Ser425Pro)
|
|
|
NM_007294.4(BRCA1):c.1307C>T (p.Pro436Leu)
|
rs2154459839
|
|
NM_007294.4(BRCA1):c.1310A>G (p.His437Arg)
|
rs80357255
|
|
NM_007294.4(BRCA1):c.134+16T>A
|
rs2055238665
|
|
NM_007294.4(BRCA1):c.1379T>G (p.Ile460Arg)
|
rs398122634
|
|
NM_007294.4(BRCA1):c.1394A>G (p.Tyr465Cys)
|
rs876659885
|
|
NM_007294.4(BRCA1):c.1405G>A (p.Ala469Thr)
|
rs397507187
|
|
NM_007294.4(BRCA1):c.1418A>T (p.Asn473Ile)
|
rs80357057
|
|
NM_007294.4(BRCA1):c.1450G>A (p.Gly484Arg)
|
rs80357304
|
|
NM_007294.4(BRCA1):c.154C>A (p.Leu52Ile)
|
rs80357084
|
|
NM_007294.4(BRCA1):c.1574T>C (p.Val525Ala)
|
rs879253902
|
|
NM_007294.4(BRCA1):c.1618G>A (p.Glu540Lys)
|
rs730881471
|
|
NM_007294.4(BRCA1):c.1652G>A (p.Ser551Asn)
|
rs2154431888
|
|
NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp)
|
rs876659028
|
|
NM_007294.4(BRCA1):c.1666A>G (p.Lys556Glu)
|
rs587783041
|
|
NM_007294.4(BRCA1):c.1686T>G (p.Ile562Met)
|
rs1268133978
|
|
NM_007294.4(BRCA1):c.1701T>G (p.Asn567Lys)
|
rs1555591359
|
|
NM_007294.4(BRCA1):c.1709C>A (p.Pro570Gln)
|
rs879254020
|
|
NM_007294.4(BRCA1):c.1714G>C (p.Glu572Gln)
|
rs730881473
|
|
NM_007294.4(BRCA1):c.1757C>T (p.Pro586Leu)
|
rs1064795270
|
|
NM_007294.4(BRCA1):c.1771A>G (p.Ile591Val)
|
rs1064795358
|
|
NM_007294.4(BRCA1):c.1786C>G (p.Leu596Val)
|
rs80357371
|
|
NM_007294.4(BRCA1):c.1813G>C (p.Ala605Pro)
|
rs587781613
|
|
NM_007294.4(BRCA1):c.1817C>T (p.Pro606Leu)
|
rs2154419849
|
|
NM_007294.4(BRCA1):c.1826A>G (p.Asn609Ser)
|
rs80357236
|
|
NM_007294.4(BRCA1):c.1841A>G (p.Lys614Arg)
|
rs1597873869
|
|
NM_007294.4(BRCA1):c.1842G>T (p.Lys614Asn)
|
rs760109939
|
|
NM_007294.4(BRCA1):c.1849A>G (p.Thr617Ala)
|
rs45564238
|
|
NM_007294.4(BRCA1):c.1855C>T (p.His619Tyr)
|
rs773212667
|
|
NM_007294.4(BRCA1):c.1880T>A (p.Val627Asp)
|
rs770002293
|
|
NM_007294.4(BRCA1):c.189A>T (p.Leu63Phe)
|
rs80356956
|
|
NM_007294.4(BRCA1):c.1931G>C (p.Cys644Ser)
|
rs876658606
|
|
NM_007294.4(BRCA1):c.1963_1964delinsAT (p.Tyr655Ile)
|
rs1567797539
|
|
NM_007294.4(BRCA1):c.1976C>T (p.Pro659Leu)
|
rs1258526903
|
|
NM_007294.4(BRCA1):c.1984C>T (p.His662Tyr)
|
rs397508927
|
|
NM_007294.4(BRCA1):c.2005A>T (p.Met669Leu)
|
|
|
NM_007294.4(BRCA1):c.203T>A (p.Ile68Lys)
|
rs80357116
|
|
NM_007294.4(BRCA1):c.2065A>G (p.Ser689Gly)
|
rs876660188
|
|
NM_007294.4(BRCA1):c.2078_2082delinsGCAGT (p.Asp693Gly)
|
rs2053829800
|
|
NM_007294.4(BRCA1):c.2090T>A (p.Phe697Tyr)
|
rs730881476
|
|
NM_007294.4(BRCA1):c.2093C>T (p.Pro698Leu)
|
rs1555590478
|
|
NM_007294.4(BRCA1):c.2123C>T (p.Ser708Phe)
|
rs80357182
|
|
NM_007294.4(BRCA1):c.213-14C>G
|
rs1060502337
|
|
NM_007294.4(BRCA1):c.213G>T (p.Arg71Ser)
|
rs1441240938
|
|
NM_007294.4(BRCA1):c.2183G>C (p.Arg728Thr)
|
rs80357335
|
|
NM_007294.4(BRCA1):c.2203C>G (p.Leu735Val)
|
rs587781781
|
|
NM_007294.4(BRCA1):c.2218G>T (p.Val740Leu)
|
rs80357415
|
|
NM_007294.4(BRCA1):c.2225A>G (p.Asn742Ser)
|
rs1060499618
|
|
NM_007294.4(BRCA1):c.2228A>G (p.Asn743Ser)
|
rs1567796489
|
|
NM_007294.4(BRCA1):c.2290G>A (p.Val764Ile)
|
rs768904580
|
|
NM_007294.4(BRCA1):c.2338C>G (p.Gln780Glu)
|
rs80356945
|
|
NM_007294.4(BRCA1):c.2342A>C (p.Glu781Ala)
|
rs587776482
|
|
NM_007294.4(BRCA1):c.2346T>A (p.Ser782Arg)
|
rs1555589837
|
|
NM_007294.4(BRCA1):c.2350T>G (p.Ser784Ala)
|
rs80357399
|
|
NM_007294.4(BRCA1):c.2355A>C (p.Leu785Phe)
|
rs1567795966
|
|
NM_007294.4(BRCA1):c.2360A>G (p.Glu787Gly)
|
|
|
NM_007294.4(BRCA1):c.237T>A (p.Phe79Leu)
|
rs2054691161
|
|
NM_007294.4(BRCA1):c.238A>G (p.Ser80Gly)
|
rs2054690791
|
|
NM_007294.4(BRCA1):c.2404G>A (p.Val802Met)
|
rs876660885
|
|
NM_007294.4(BRCA1):c.2409T>G (p.Ser803Arg)
|
|
|
NM_007294.4(BRCA1):c.2419G>T (p.Ala807Ser)
|
rs80357240
|
|
NM_007294.4(BRCA1):c.2504A>G (p.His835Arg)
|
|
|
NM_007294.4(BRCA1):c.2516A>G (p.His839Arg)
|
rs1050289746
|
|
NM_007294.4(BRCA1):c.2527A>G (p.Thr843Ala)
|
rs80357435
|
|
NM_007294.4(BRCA1):c.2536G>A (p.Glu846Lys)
|
rs786203523
|
|
NM_007294.4(BRCA1):c.2567A>G (p.Tyr856Cys)
|
rs864622122
|
|
NM_007294.4(BRCA1):c.2604A>G (p.Ser868=)
|
rs864622491
|
|
NM_007294.4(BRCA1):c.2608G>C (p.Ala870Pro)
|
rs753256448
|
|
NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg)
|
rs799917
|
|
NM_007294.4(BRCA1):c.2620A>C (p.Asn874His)
|
rs1064795862
|
|
NM_007294.4(BRCA1):c.2638G>C (p.Glu880Gln)
|
rs587782370
|
|
NM_007294.4(BRCA1):c.2643A>T (p.Glu881Asp)
|
|
|
NM_007294.4(BRCA1):c.2644T>A (p.Cys882Ser)
|
rs184374817
|
|
NM_007294.4(BRCA1):c.2705A>G (p.Glu902Gly)
|
rs747287311
|
|
NM_007294.4(BRCA1):c.271T>C (p.Cys91Arg)
|
rs786203939
|
|
NM_007294.4(BRCA1):c.2738A>G (p.Asn913Ser)
|
rs199954851
|
|
NM_007294.4(BRCA1):c.2749A>G (p.Ile917Val)
|
rs1334134701
|
|
NM_007294.4(BRCA1):c.2773A>G (p.Ile925Val)
|
rs4986847
|
|
NM_007294.4(BRCA1):c.2795T>C (p.Val932Ala)
|
rs2154359210
|
|
NM_007294.4(BRCA1):c.2815G>T (p.Val939Phe)
|
|
|
NM_007294.4(BRCA1):c.2831G>A (p.Cys944Tyr)
|
rs770769275
|
|
NM_007294.4(BRCA1):c.2834G>C (p.Ser945Thr)
|
rs746727823
|
|
NM_007294.4(BRCA1):c.2836A>T (p.Ile946Phe)
|
rs876660901
|
|
NM_007294.4(BRCA1):c.2862ATC[1] (p.Ser956del)
|
rs1567793980
|
|
NM_007294.4(BRCA1):c.2893C>G (p.Leu965Val)
|
rs1060502344
|
|
NM_007294.4(BRCA1):c.2893C>T (p.Leu965Phe)
|
rs1060502344
|
|
NM_007294.4(BRCA1):c.28G>A (p.Glu10Lys)
|
rs2055737833
|
|
NM_007294.4(BRCA1):c.2905A>G (p.Asn969Asp)
|
rs587781641
|
|
NM_007294.4(BRCA1):c.2933A>G (p.Tyr978Cys)
|
rs863224756
|
|
NM_007294.4(BRCA1):c.2959A>G (p.Lys987Glu)
|
rs878854941
|
|
NM_007294.4(BRCA1):c.2980T>C (p.Cys994Arg)
|
rs144853230
|
|
NM_007294.4(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del)
|
rs80358333
|
|
NM_007294.4(BRCA1):c.3001G>A (p.Glu1001Lys)
|
rs886038007
|
|
NM_007294.4(BRCA1):c.301+2dup
|
rs273899694
|
|
NM_007294.4(BRCA1):c.302-5T>C
|
rs778668665
|
|
NM_007294.4(BRCA1):c.3053A>G (p.Asn1018Ser)
|
rs1567793093
|
|
NM_007294.4(BRCA1):c.3071G>A (p.Ser1024Asn)
|
rs757579891
|
|
NM_007294.4(BRCA1):c.3079_3080delinsGA (p.Ser1027Asp)
|
rs1567793005
|
|
NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr)
|
rs80357386
|
|
NM_007294.4(BRCA1):c.3083G>T (p.Arg1028Leu)
|
rs80357459
|
|
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala)
|
rs16941
|
|
NM_007294.4(BRCA1):c.3151A>G (p.Thr1051Ala)
|
rs398122671
|
|
NM_007294.4(BRCA1):c.3159A>C (p.Glu1053Asp)
|
rs1567792698
|
|
NM_007294.4(BRCA1):c.3167C>T (p.Ser1056Phe)
|
rs587781588
|
|
NM_007294.4(BRCA1):c.3245C>T (p.Ala1082Val)
|
rs1555588115
|
|
NM_007294.4(BRCA1):c.3247A>G (p.Met1083Val)
|
rs397507213
|
|
NM_007294.4(BRCA1):c.3269A>G (p.Gln1090Arg)
|
rs1555588045
|
|
NM_007294.4(BRCA1):c.3270A>T (p.Gln1090His)
|
rs369925993
|
|
NM_007294.4(BRCA1):c.329A>G (p.Lys110Arg)
|
|
|
NM_007294.4(BRCA1):c.3319G>A (p.Glu1107Lys)
|
|
|
NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del)
|
rs80357575
|
|
NM_007294.4(BRCA1):c.3341AAG[3] (p.Glu1115_Val1116insGlu)
|
rs80358336
|
|
NM_007294.4(BRCA1):c.3368A>T (p.Asp1123Val)
|
rs1555587851
|
|
NM_007294.4(BRCA1):c.3379T>C (p.Tyr1127His)
|
rs1451089848
|
|
NM_007294.4(BRCA1):c.3392A>G (p.Asp1131Gly)
|
rs1555587813
|
|
NM_007294.4(BRCA1):c.3410T>C (p.Met1137Thr)
|
rs80357297
|
|
NM_007294.4(BRCA1):c.3433G>T (p.Val1145Phe)
|
rs431825396
|
|
NM_007294.4(BRCA1):c.343C>T (p.Pro115Ser)
|
rs1468589409
|
|
NM_007294.4(BRCA1):c.3454G>C (p.Asp1152His)
|
rs80357175
|
|
NM_007294.4(BRCA1):c.3458T>C (p.Leu1153Pro)
|
rs1597863549
|
|
NM_007294.4(BRCA1):c.3524C>T (p.Ala1175Val)
|
rs1567791322
|
|
NM_007294.4(BRCA1):c.353T>G (p.Leu118Arg)
|
rs2054632458
|
|
NM_007294.4(BRCA1):c.3541G>T (p.Val1181Phe)
|
rs56336919
|
|
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp)
|
rs587779368
|
|
NM_007294.4(BRCA1):c.3556C>T (p.Leu1186Phe)
|
rs1555587505
|
|
NM_007294.4(BRCA1):c.3581C>T (p.Thr1194Ile)
|
rs80357290
|
|
NM_007294.4(BRCA1):c.3584A>G (p.His1195Arg)
|
rs28897685
|
|
NM_007294.4(BRCA1):c.3632C>G (p.Ser1211Cys)
|
rs1555587377
|
|
NM_007294.4(BRCA1):c.3640G>C (p.Glu1214Gln)
|
rs80356923
|
|
NM_007294.4(BRCA1):c.3674G>C (p.Cys1225Ser)
|
rs1567790638
|
|
NM_007294.4(BRCA1):c.369T>C (p.Ser123=)
|
rs774583925
|
|
NM_007294.4(BRCA1):c.3700G>C (p.Val1234Leu)
|
rs763354142
|
|
NM_007294.4(BRCA1):c.3722C>A (p.Ser1241Tyr)
|
rs80357143
|
|
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr)
|
rs483353090
|
|
NM_007294.4(BRCA1):c.3792G>C (p.Lys1264Asn)
|
rs894781955
|
|
NM_007294.4(BRCA1):c.3910G>C (p.Glu1304Gln)
|
|
|
NM_007294.4(BRCA1):c.3925A>G (p.Asn1309Asp)
|
rs2053499636
|
|
NM_007294.4(BRCA1):c.3928A>G (p.Thr1310Ala)
|
rs2053499046
|
|
NM_007294.4(BRCA1):c.3962C>G (p.Ser1321Cys)
|
rs386833394
|
|
NM_007294.4(BRCA1):c.3965A>G (p.Lys1322Arg)
|
rs80357042
|
|
NM_007294.4(BRCA1):c.3970A>T (p.Met1324Leu)
|
rs587782241
|
|
NM_007294.4(BRCA1):c.3982T>C (p.Ser1328Pro)
|
|
|
NM_007294.4(BRCA1):c.3985G>A (p.Glu1329Lys)
|
rs876659467
|
|
NM_007294.4(BRCA1):c.4048G>T (p.Gly1350Cys)
|
rs748674194
|
|
NM_007294.4(BRCA1):c.4055A>T (p.Glu1352Val)
|
rs879254228
|
|
NM_007294.4(BRCA1):c.4063A>G (p.Asn1355Asp)
|
rs876660530
|
|
NM_007294.4(BRCA1):c.4075C>A (p.Gln1359Lys)
|
rs80357456
|
|
NM_007294.4(BRCA1):c.4080C>G (p.Ser1360Arg)
|
rs2053471401
|
|
NM_007294.4(BRCA1):c.4081A>G (p.Met1361Val)
|
rs80357218
|
|
NM_007294.4(BRCA1):c.4096+3A>G
|
rs80358015
|
|
NM_007294.4(BRCA1):c.4096G>A (p.Gly1366Ser)
|
rs431825405
|
|
NM_007294.4(BRCA1):c.4097-11T>G
|
rs80358072
|
|
NM_007294.4(BRCA1):c.4097G>A (p.Gly1366Asp)
|
rs876660948
|
|
NM_007294.4(BRCA1):c.4099G>A (p.Glu1367Lys)
|
rs786202998
|
|
NM_007294.4(BRCA1):c.4111G>C (p.Gly1371Arg)
|
rs774593602
|
|
NM_007294.4(BRCA1):c.4133T>C (p.Val1378Ala)
|
rs1567788422
|
|
NM_007294.4(BRCA1):c.4178C>G (p.Thr1393Ser)
|
rs1555586071
|
|
NM_007294.4(BRCA1):c.4184A>G (p.Gln1395Arg)
|
rs80356972
|
|
NM_007294.4(BRCA1):c.4185+10G>A
|
rs80358104
|
|
NM_007294.4(BRCA1):c.4185+16G>C
|
rs774646943
|
|
NM_007294.4(BRCA1):c.4211T>G (p.Leu1404Arg)
|
rs80356916
|
|
NM_007294.4(BRCA1):c.4253T>C (p.Leu1418Ser)
|
rs397509157
|
|
NM_007294.4(BRCA1):c.427G>C (p.Glu143Gln)
|
rs80356991
|
|
NM_007294.4(BRCA1):c.4288C>T (p.Pro1430Ser)
|
rs80357466
|
|
NM_007294.4(BRCA1):c.4289C>T (p.Pro1430Leu)
|
rs1597847973
|
|
NM_007294.4(BRCA1):c.4319A>G (p.Glu1440Gly)
|
rs786202288
|
|
NM_007294.4(BRCA1):c.4333C>A (p.Pro1445Thr)
|
rs876660684
|
|
NM_007294.4(BRCA1):c.4358-12T>C
|
rs2154074579
|
|
NM_007294.4(BRCA1):c.4358-13A>G
|
rs1567780008
|
|
NM_007294.4(BRCA1):c.4358-2del
|
rs1353755235
|
|
NM_007294.4(BRCA1):c.4358-4A>G
|
rs1567779976
|
|
NM_007294.4(BRCA1):c.4379G>A (p.Ser1460Asn)
|
rs397509167
|
|
NM_007294.4(BRCA1):c.441+6dup
|
rs1060504561
|
|
NM_007294.4(BRCA1):c.4441G>A (p.Ala1481Thr)
|
rs1135401828
|
|
NM_007294.4(BRCA1):c.4454C>T (p.Thr1485Ile)
|
rs80356870
|
|
NM_007294.4(BRCA1):c.4460A>G (p.Lys1487Arg)
|
rs80357126
|
|
NM_007294.4(BRCA1):c.4471C>T (p.Pro1491Ser)
|
rs111034213
|
|
NM_007294.4(BRCA1):c.4481A>C (p.Glu1494Ala)
|
|
|
NM_007294.4(BRCA1):c.4481A>G (p.Glu1494Gly)
|
rs758779691
|
|
NM_007294.4(BRCA1):c.4484+10A>G
|
rs80358077
|
|
NM_007294.4(BRCA1):c.4510T>G (p.Leu1504Val)
|
rs1567778337
|
|
NM_007294.4(BRCA1):c.4631C>T (p.Pro1544Leu)
|
rs80356917
|
|
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His)
|
rs1265352633
|
|
NM_007294.4(BRCA1):c.4655A>G (p.Tyr1552Cys)
|
rs2052589802
|
|
NM_007294.4(BRCA1):c.465A>C (p.Gln155His)
|
rs864622260
|
|
NM_007294.4(BRCA1):c.4668A>C (p.Gln1556His)
|
rs1485442602
|
|
NM_007294.4(BRCA1):c.466C>A (p.Leu156Ile)
|
rs587778115
|
|
NM_007294.4(BRCA1):c.4670A>G (p.Asp1557Gly)
|
rs869320779
|
|
NM_007294.4(BRCA1):c.4675+3A>G
|
rs80358082
|
|
NM_007294.4(BRCA1):c.4693G>A (p.Glu1565Lys)
|
rs863224762
|
|
NM_007294.4(BRCA1):c.4713C>G (p.Phe1571Leu)
|
rs768945711
|
|
NM_007294.4(BRCA1):c.4748G>C (p.Arg1583Thr)
|
rs752624544
|
|
NM_007294.4(BRCA1):c.4780C>T (p.Pro1594Ser)
|
rs587782012
|
|
NM_007294.4(BRCA1):c.4790C>A (p.Thr1597Asn)
|
rs587781623
|
|
NM_007294.4(BRCA1):c.4807_4821del (p.Pro1603_Val1607del)
|
rs80359888
|
|
NM_007294.4(BRCA1):c.4808C>T (p.Pro1603Leu)
|
rs1064794054
|
|
NM_007294.4(BRCA1):c.4884G>T (p.Met1628Ile)
|
rs80357158
|
|
NM_007294.4(BRCA1):c.4935G>T (p.Arg1645Ser)
|
rs80357373
|
|
NM_007294.4(BRCA1):c.4973C>A (p.Thr1658Asn)
|
rs1015073230
|
|
NM_007294.4(BRCA1):c.5044G>A (p.Glu1682Lys)
|
rs80356958
|
|
NM_007294.4(BRCA1):c.5074+19C>T
|
rs2052152874
|
|
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr)
|
rs397507241
|
|
NM_007294.4(BRCA1):c.5107T>G (p.Tyr1703Asp)
|
rs863224763
|
|
NM_007294.4(BRCA1):c.5125G>A (p.Gly1709Arg)
|
rs886038197
|
|
NM_007294.4(BRCA1):c.5151C>T (p.Phe1717=)
|
rs2051906420
|
|
NM_007294.4(BRCA1):c.5152+6T>G
|
rs80358074
|
|
NM_007294.4(BRCA1):c.5152+7A>G
|
rs80358046
|
|
NM_007294.4(BRCA1):c.5155G>A (p.Val1719Met)
|
rs749465132
|
|
NM_007294.4(BRCA1):c.5193+10T>C
|
rs1567768548
|
|
NM_007294.4(BRCA1):c.5193+15T>A
|
rs2051850619
|
|
NM_007294.4(BRCA1):c.5193+19A>G
|
rs1555578276
|
|
NM_007294.4(BRCA1):c.5193+3A>G
|
rs1060502326
|
|
NM_007294.4(BRCA1):c.5193+6T>C
|
rs1555578283
|
|
NM_007294.4(BRCA1):c.5197G>A (p.Asp1733Asn)
|
rs398122693
|
|
NM_007294.4(BRCA1):c.523A>G (p.Lys175Glu)
|
rs1567806027
|
|
NM_007294.4(BRCA1):c.5269G>A (p.Asp1757Asn)
|
rs863224764
|
|
NM_007294.4(BRCA1):c.5296A>G (p.Ile1766Val)
|
rs886039314
|
|
NM_007294.4(BRCA1):c.52A>G (p.Met18Val)
|
rs2055727017
|
|
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys)
|
rs397509257
|
|
NM_007294.4(BRCA1):c.5332+19C>A
|
rs774813458
|
|
NM_007294.4(BRCA1):c.5343A>C (p.Glu1781Asp)
|
rs1555575182
|
|
NM_007294.4(BRCA1):c.5378A>C (p.Lys1793Thr)
|
rs730881446
|
|
NM_007294.4(BRCA1):c.5401G>C (p.Gly1801Arg)
|
rs587776492
|
|
NM_007294.4(BRCA1):c.5407-4C>G
|
rs876660347
|
|
NM_007294.4(BRCA1):c.5407G>A (p.Gly1803Ser)
|
rs876659510
|
|
NM_007294.4(BRCA1):c.5444G>C (p.Trp1815Ser)
|
rs80356962
|
|
NM_007294.4(BRCA1):c.5467+19C>T
|
rs2050971735
|
|
NM_007294.4(BRCA1):c.548G>T (p.Gly183Val)
|
rs1555594081
|
|
NM_007294.4(BRCA1):c.5492C>G (p.Pro1831Arg)
|
rs587782778
|
|
NM_007294.4(BRCA1):c.5504G>C (p.Arg1835Pro)
|
rs273902776
|
|
NM_007294.4(BRCA1):c.550T>A (p.Ser184Thr)
|
rs1064795269
|
|
NM_007294.4(BRCA1):c.5529_5530delinsCA (p.Leu1844Ile)
|
rs1555574389
|
|
NM_007294.4(BRCA1):c.552dup (p.Asp185Ter)
|
rs1555594073
|
|
NM_007294.4(BRCA1):c.5565_5573del (p.Gln1857_Pro1859del)
|
rs397507253
|
|
NM_007294.4(BRCA1):c.5571_5579del (p.Gln1857_Pro1859del)
|
rs775417240
|
|
NM_007294.4(BRCA1):c.5575C>T (p.Pro1859Ser)
|
rs1555574342
|
|
NM_007294.4(BRCA1):c.5578dup (p.His1860fs)
|
rs397507254
|
|
NM_007294.4(BRCA1):c.572T>A (p.Val191Asp)
|
rs80357142
|
|
NM_007294.4(BRCA1):c.587A>T (p.Tyr196Phe)
|
rs1555594039
|
|
NM_007294.4(BRCA1):c.594-10T>C
|
rs1044086308
|
|
NM_007294.4(BRCA1):c.626C>T (p.Pro209Leu)
|
rs201596327
|
|
NM_007294.4(BRCA1):c.640G>A (p.Asp214Asn)
|
rs786203797
|
|
NM_007294.4(BRCA1):c.650G>A (p.Ser217Asn)
|
|
|
NM_007294.4(BRCA1):c.656A>T (p.Asp219Val)
|
rs2054110068
|
|
NM_007294.4(BRCA1):c.670+3A>T
|
rs1555593531
|
|
NM_007294.4(BRCA1):c.670G>A (p.Ala224Thr)
|
rs431825419
|
|
NM_007294.4(BRCA1):c.671-6T>G
|
rs878854964
|
|
NM_007294.4(BRCA1):c.67G>C (p.Glu23Gln)
|
rs372047427
|
|
NM_007294.4(BRCA1):c.683T>A (p.Phe228Tyr)
|
rs191872612
|
|
NM_007294.4(BRCA1):c.714TCA[1] (p.His239del)
|
rs786202378
|
|
NM_007294.4(BRCA1):c.722C>T (p.Pro241Leu)
|
rs80357351
|
|
NM_007294.4(BRCA1):c.731_732delinsCA (p.Asn244Thr)
|
rs1064794375
|
|
NM_007294.4(BRCA1):c.742A>G (p.Thr248Ala)
|
rs879255288
|
|
NM_007294.4(BRCA1):c.754C>T (p.Arg252Cys)
|
rs273902786
|
|
NM_007294.4(BRCA1):c.773C>G (p.Pro258Arg)
|
rs80357225
|
|
NM_007294.4(BRCA1):c.81-13C>T
|
rs56328013
|
|
NM_007294.4(BRCA1):c.81-5G>A
|
rs1555599296
|
|
NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro)
|
rs80357266
|
|
NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg)
|
rs80357039
|
|
NM_007294.4(BRCA1):c.854A>G (p.His285Arg)
|
rs2154489161
|
|
NM_007294.4(BRCA1):c.889A>G (p.Met297Val)
|
rs80357196
|
|
NM_007294.4(BRCA1):c.913T>C (p.Cys305Arg)
|
rs1597879229
|
|
NM_007294.4(BRCA1):c.914G>A (p.Cys305Tyr)
|
rs751124745
|
|
NM_007294.4(BRCA1):c.971G>A (p.Ser324Asn)
|
rs1462728426
|
|
NM_007294.4(BRCA1):c.97G>C (p.Glu33Gln)
|
rs80357066
|
|
NM_007325.5(GRIA3):c.2126C>T (p.Ala709Val)
|
|
|
NM_007325.5(GRIA3):c.2476G>A (p.Gly826Ser)
|
|
|
NM_007325.5(GRIA3):c.425G>A (p.Arg142His)
|
|
|
NM_007325.5(GRIA3):c.538G>A (p.Ala180Thr)
|
|
|
NM_007327.4(GRIN1):c.1036C>T (p.Arg346Trp)
|
rs1833355927
|
|
NM_007327.4(GRIN1):c.2054A>G (p.Lys685Arg)
|
|
|
NM_007327.4(GRIN1):c.334G>A (p.Gly112Ser)
|
rs762157647
|
|
NM_007347.5(AP4E1):c.2T>C (p.Met1Thr)
|
|
|
NM_007363.5(NONO):c.1131+5A>G
|
|
|
NM_007363.5(NONO):c.116C>T (p.Pro39Leu)
|
|
|
NM_007363.5(NONO):c.1408C>T (p.Arg470Ter)
|
|
|
NM_007373.4(SHOC2):c.*16C>G
|
rs753327392
|
|
NM_007373.4(SHOC2):c.187G>C (p.Gly63Arg)
|
rs1564714645
|
|
NM_007373.4(SHOC2):c.284_351dup (p.Ser118fs)
|
rs1847638431
|
|
NM_007373.4(SHOC2):c.307A>G (p.Met103Val)
|
|
|
NM_007373.4(SHOC2):c.309G>A (p.Met103Ile)
|
rs1479169790
|
|
NM_007373.4(SHOC2):c.425T>G (p.Val142Gly)
|
rs768053004
|
|
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)
|
rs730881020
|
|
NM_007373.4(SHOC2):c.556T>G (p.Ser186Ala)
|
rs1000163945
|
|
NM_007373.4(SHOC2):c.605A>G (p.Asn202Ser)
|
|
|
NM_007373.4(SHOC2):c.85A>G (p.Lys29Glu)
|
rs1414935471
|
|
NM_007373.4(SHOC2):c.911C>T (p.Ala304Val)
|
rs759211899
|
|
NM_007373.4(SHOC2):c.923C>T (p.Ala308Val)
|
|
|
NM_007375.4(TARDBP):c.1070G>A (p.Gly357Asp)
|
|
|
NM_012062.5(DNM1L):c.1582G>A (p.Val528Ile)
|
|
|
NM_012062.5(DNM1L):c.251-5dup
|
rs1188011409
|
|
NM_012062.5(DNM1L):c.889A>T (p.Ile297Phe)
|
|
|
NM_012114.3(CASP14):c.361C>T (p.Arg121Ter)
|
|
|
NM_012114.3(CASP14):c.397C>T (p.Arg133Ter)
|
|
|
NM_012114.3(CASP14):c.462_463del (p.Asp154fs)
|
rs769277893
|
|
NM_012123.4(MTO1):c.1260+309del
|
rs988279203
|
|
NM_012154.5(AGO2):c.1742A>G (p.Gln581Arg)
|
|
|
NM_012156.2(EPB41L1):c.1318G>C (p.Ala440Pro)
|
|
|
NM_012156.2(EPB41L1):c.1684G>A (p.Glu562Lys)
|
|
|
NM_012156.2(EPB41L1):c.665C>T (p.Ala222Val)
|
|
|
NM_012186.3(FOXE3):c.-2C>G
|
|
|
NM_012186.3(FOXE3):c.380A>G (p.Asp127Gly)
|
|
|
NM_012186.3(FOXE3):c.3G>C (p.Met1Ile)
|
|
|
NM_012199.5(AGO1):c.614G>T (p.Arg205Leu)
|
|
|
NM_012203.2(GRHPR):c.286_287+1del
|
rs750079140
|
|
NM_012203.2(GRHPR):c.905G>C (p.Arg302Pro)
|
|
|
NM_012210.4(TRIM32):c.463C>T (p.Arg155Cys)
|
rs374055553
|
|
NM_012213.3(MLYCD):c.1424A>G (p.Lys475Arg)
|
rs200413924
|
|
NM_012216.4(MID2):c.1435+1G>A
|
|
|
NM_012216.4(MID2):c.1756A>G (p.Ile586Val)
|
|
|
NM_012216.4(MID2):c.397T>A (p.Ser133Thr)
|
rs2147825821
|
|
NM_012216.4(MID2):c.402C>G (p.Ser134Arg)
|
rs761567068
|
|
NM_012309.5(SHANK2):c.1745A>C (p.Glu582Ala)
|
|
|
NM_012309.5(SHANK2):c.3707G>T (p.Gly1236Val)
|
|
|
NM_012309.5(SHANK2):c.4337C>T (p.Pro1446Leu)
|
|
|
NM_012310.5(KIF4A):c.1327T>A (p.Cys443Ser)
|
|
|
NM_012310.5(KIF4A):c.2899-7G>T
|
|
|
NM_012310.5(KIF4A):c.578A>T (p.Gln193Leu)
|
|
|
NM_012318.3(LETM1):c.1743+4G>A
|
|
|
NM_012318.3(LETM1):c.920G>A (p.Arg307His)
|
|
|
NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter)
|
rs1383727273
|
|
NM_012330.4(KAT6B):c.2576T>C (p.Met859Thr)
|
|
|
NM_012330.4(KAT6B):c.2735A>G (p.Glu912Gly)
|
|
|
NM_012330.4(KAT6B):c.3173G>A (p.Arg1058Gln)
|
|
|
NM_012330.4(KAT6B):c.3730T>G (p.Cys1244Gly)
|
|
|
NM_012330.4(KAT6B):c.586C>G (p.Pro196Ala)
|
rs2132075785
|
|
NM_012330.4(KAT6B):c.622-4A>G
|
|
|
NM_012335.4(MYO1F):c.2338C>G (p.Arg780Gly)
|
rs201198914
|
|
NM_012388.4(BLOC1S6):c.480_486del (p.Arg160fs)
|
|
|
NM_012398.3(PIP5K1C):c.-1C>G
|
|
|
NM_012398.3(PIP5K1C):c.1603A>G (p.Ile535Val)
|
|
|
NM_012431.3(SEMA3E):c.1010G>A (p.Arg337Gln)
|
|
|
NM_012433.4(SF3B1):c.2587C>T (p.Gln863Ter)
|
rs2084930929
|
|
NM_012434.5(SLC17A5):c.1355C>G (p.Thr452Ser)
|
|
|
NM_012434.5(SLC17A5):c.1454G>A (p.Trp485Ter)
|
|
|
NM_012434.5(SLC17A5):c.316G>A (p.Glu106Lys)
|
|
|
NM_012434.5(SLC17A5):c.509T>C (p.Leu170Pro)
|
|
|
NM_012434.5(SLC17A5):c.511G>A (p.Glu171Lys)
|
|
|
NM_012434.5(SLC17A5):c.[509T>C;511G>A]
|
|
|
NM_012448.4(STAT5B):c.2178G>A (p.Met726Ile)
|
rs768971207
|
|
NM_012448.4(STAT5B):c.681+4A>G
|
|
|
NM_012448.4(STAT5B):c.802C>T (p.Pro268Ser)
|
|
|
NM_012452.3(TNFRSF13B):c.632-2A>G
|
|
|
NM_012463.4(ATP6V0A2):c.2056-2dup
|
|
|
NM_012470.4(TNPO3):c.1165G>A (p.Val389Ile)
|
|
|
NM_012470.4(TNPO3):c.140C>G (p.Ser47Ter)
|
|
|
NM_012470.4(TNPO3):c.1616A>G (p.Asn539Ser)
|
|
|
NM_012470.4(TNPO3):c.2516A>C (p.His839Pro)
|
|
|
NM_012470.4(TNPO3):c.321+1G>T
|
|
|
NM_012473.4(TXN2):c.388-1G>A
|
|
|
NM_012479.4(YWHAG):c.88-1G>A
|
|
|
NM_013245.3(VPS4A):c.769+3G>A
|
|
|
NM_013275.6(ANKRD11):c.1000C>T (p.Pro334Ser)
|
|
|
NM_013275.6(ANKRD11):c.1415G>A (p.Arg472Gln)
|
|
|
NM_013275.6(ANKRD11):c.1470G>T (p.Glu490Asp)
|
|
|
NM_013275.6(ANKRD11):c.2639C>T (p.Thr880Met)
|
|
|
NM_013275.6(ANKRD11):c.4164C>G (p.Asp1388Glu)
|
|
|
NM_013275.6(ANKRD11):c.6403C>A (p.Pro2135Thr)
|
|
|
NM_013275.6(ANKRD11):c.6474A>T (p.Glu2158Asp)
|
rs1453564938
|
|
NM_013275.6(ANKRD11):c.6647C>T (p.Ala2216Val)
|
rs2151734743
|
|
NM_013275.6(ANKRD11):c.6800C>T (p.Ser2267Phe)
|
|
|
NM_013275.6(ANKRD11):c.7937_7938dup (p.Phe2647fs)
|
rs2151660554
|
|
NM_013291.3(CPSF1):c.3893G>A (p.Arg1298His)
|
|
|
NM_013335.4(GMPPA):c.1001C>T (p.Thr334Met)
|
|
|
NM_013335.4(GMPPA):c.486C>G (p.His162Gln)
|
rs36029384
|
|
NM_013339.4(ALG6):c.908_910del (p.Cys303del)
|
rs1057517952
|
|
NM_013382.7(POMT2):c.1465_1476del (p.Gly489_Leu492del)
|
|
|
NM_013382.7(POMT2):c.1637A>C (p.His546Pro)
|
|
|
NM_013382.7(POMT2):c.2147+1del
|
|
|
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter)
|
rs1452558347
|
|
NM_013382.7(POMT2):c.2201del (p.Asp734fs)
|
rs2140156993
|
|
NM_013382.7(POMT2):c.406T>C (p.Tyr136His)
|
rs1891230114
|
|
NM_013382.7(POMT2):c.558C>G (p.Cys186Trp)
|
rs2139487152
|
|
NM_013386.5(SLC25A24):c.715C>T (p.Arg239Ter)
|
|
|
NM_013975.4(LIG3):c.1073T>C (p.Phe358Ser)
|
|
|
NM_013975.4(LIG3):c.1166A>G (p.Lys389Arg)
|
|
|
NM_013975.4(LIG3):c.1824-13C>T
|
|
|
NM_013975.4(LIG3):c.1859A>G (p.Asn620Ser)
|
|
|
NM_013975.4(LIG3):c.2200G>C (p.Asp734His)
|
rs1567693216
|
|
NM_013975.4(LIG3):c.2332-19G>C
|
|
|
NM_013975.4(LIG3):c.2860C>A (p.Arg954Ser)
|
|
|
NM_013975.4(LIG3):c.382T>G (p.Ser128Ala)
|
rs1021764612
|
|
NM_013975.4(LIG3):c.744T>A (p.Ser248Arg)
|
|
|
NM_014000.3(VCL):c.1225C>T (p.Arg409Ter)
|
rs202005455
|
|
NM_014000.3(VCL):c.151G>T (p.Val51Phe)
|
rs1565628951
|
|
NM_014000.3(VCL):c.2185G>A (p.Ala729Thr)
|
rs957518574
|
|
NM_014000.3(VCL):c.2362G>C (p.Asp788His)
|
|
|
NM_014000.3(VCL):c.2455G>A (p.Asp819Asn)
|
|
|
NM_014000.3(VCL):c.2823_2824delinsGT (p.Pro942Ser)
|
rs1060502196
|
|
NM_014000.3(VCL):c.2827C>A (p.Pro943Thr)
|
rs71579375
|
|
NM_014008.5(CCDC22):c.127C>T (p.Arg43Cys)
|
|
|
NM_014009.4(FOXP3):c.1163A>G (p.Asn388Ser)
|
rs2147944149
|
|
NM_014028.4(OSTM1):c.524T>C (p.Leu175Ser)
|
rs2114596894
|
|
NM_014043.4(CHMP2B):c.2T>C (p.Met1Thr)
|
|
|
NM_014049.5(ACAD9):c.1504GAG[1] (p.Glu503del)
|
rs765384159
|
|
NM_014049.5(ACAD9):c.1750T>C (p.Ser584Pro)
|
rs2107666715
|
|
NM_014112.5(TRPS1):c.3515A>G (p.Asp1172Gly)
|
rs986339998
|
|
NM_014112.5(TRPS1):c.73G>A (p.Val25Ile)
|
|
|
NM_014141.6(CNTNAP2):c.2255+3G>A
|
rs1366034966
|
|
NM_014141.6(CNTNAP2):c.2279C>T (p.Ser760Leu)
|
rs1585058146
|
|
NM_014141.6(CNTNAP2):c.3956_3957del (p.Thr1319fs)
|
rs1554432792
|
|
NM_014159.7(SETD2):c.5500G>A (p.Val1834Ile)
|
|
|
NM_014159.7(SETD2):c.6020A>G (p.Asp2007Gly)
|
rs2107637525
|
|
NM_014159.7(SETD2):c.6095A>G (p.Glu2032Gly)
|
|
|
NM_014159.7(SETD2):c.6793G>A (p.Val2265Ile)
|
rs2040110568
|
|
NM_014159.7(SETD2):c.7073C>A (p.Pro2358Gln)
|
|
|
NM_014208.3(DSPP):c.211A>T (p.Asn71Tyr)
|
|
|
NM_014208.3(DSPP):c.2961C>G (p.Asp987Glu)
|
|
|
NM_014208.3(DSPP):c.3214A>T (p.Ser1072Cys)
|
|
|
NM_014208.3(DSPP):c.3827G>A (p.Gly1276Asp)
|
|
|
NM_014225.6(PPP2R1A):c.-4del
|
|
|
NM_014225.6(PPP2R1A):c.1547T>C (p.Ile516Thr)
|
|
|
NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro)
|
rs2089686081
|
|
NM_014233.4(UBTF):c.1925G>A (p.Arg642His)
|
|
|
NM_014244.5(ADAMTS2):c.103G>A (p.Ala35Thr)
|
rs2127463859
|
|
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup)
|
rs1174228917
|
|
NM_014244.5(ADAMTS2):c.128C>G (p.Ala43Gly)
|
rs1377346029
|
|
NM_014244.5(ADAMTS2):c.3551C>T (p.Pro1184Leu)
|
rs150989902
|
|
NM_014244.5(ADAMTS2):c.3586C>T (p.Gln1196Ter)
|
|
|
NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup)
|
rs763392299
|
|
NM_014248.4(RBX1):c.228+1G>T
|
|
|
NM_014251.3(SLC25A13):c.1359G>T (p.Lys453Asn)
|
|
|
NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met)
|
rs554809009
|
|
NM_014251.3(SLC25A13):c.1465T>C (p.Cys489Arg)
|
|
|
NM_014251.3(SLC25A13):c.1511A>G (p.Tyr504Cys)
|
|
|
NM_014251.3(SLC25A13):c.1622C>A (p.Ala541Asp)
|
|
|
NM_014251.3(SLC25A13):c.1904A>G (p.Asp635Gly)
|
rs1466662887
|
|
NM_014251.3(SLC25A13):c.1A>T (p.Met1Leu)
|
|
|
NM_014251.3(SLC25A13):c.535A>G (p.Thr179Ala)
|
rs768500587
|
|
NM_014251.3(SLC25A13):c.674C>T (p.Ser225Leu)
|
|
|
NM_014252.4(SLC25A15):c.818T>A (p.Met273Lys)
|
rs202247808
|
|
NM_014271.4(IL1RAPL1):c.261G>C (p.Glu87Asp)
|
|
|
NM_014297.5(ETHE1):c.394A>G (p.Ser132Gly)
|
rs1291692198
|
|
NM_014297.5(ETHE1):c.760G>A (p.Ala254Thr)
|
|
|
NM_014314.4(RIGI):c.1936T>A (p.Trp646Arg)
|
rs2118720949
|
|
NM_014324.6(AMACR):c.722A>G (p.Tyr241Cys)
|
|
|
NM_014336.5(AIPL1):c.1005del (p.Ala336fs)
|
rs1356057652
|
|
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)
|
rs281865195
|
|
NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg)
|
rs773588375
|
|
NM_014363.6(SACS):c.13601del (p.Ser4533_Leu4534insTer)
|
|
|
NM_014363.6(SACS):c.1639C>G (p.Pro547Ala)
|
rs2137720410
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile)
|
|
|
NM_014384.3(ACAD8):c.473A>G (p.Tyr158Cys)
|
rs779385985
|
|
NM_014391.3(ANKRD1):c.346-19_346-15delinsATA
|
|
|
NM_014413.4(EIF2AK1):c.631G>C (p.Val211Leu)
|
|
|
NM_014415.4(ZBTB11):c.718C>T (p.Arg240Ter)
|
|
|
NM_014423.4(AFF4):c.1133+3A>G
|
rs1760573869
|
|
NM_014423.4(AFF4):c.437G>C (p.Ser146Thr)
|
|
|
NM_014425.5(INVS):c.3182dup (p.Asn1061fs)
|
rs760013326
|
|
NM_014467.3(SRPX2):c.355+1G>C
|
|
|
NM_014491.4(FOXP2):c.2066T>C (p.Leu689Ser)
|
|
|
NM_014515.7(CNOT2):c.-9C>T
|
rs2135804415
|
|
NM_014625.4(NPHS2):c.29G>C (p.Arg10Thr)
|
|
|
NM_014625.4(NPHS2):c.372C>G (p.Cys124Trp)
|
rs139290621
|
|
NM_014625.4(NPHS2):c.561G>A (p.Met187Ile)
|
rs1673966819
|
|
NM_014625.4(NPHS2):c.802G>A (p.Val268Met)
|
|
|
NM_014629.4(ARHGEF10):c.1090C>G (p.Leu364Val)
|
|
|
NM_014629.4(ARHGEF10):c.3648C>G (p.Asp1216Glu)
|
|
|
NM_014629.4(ARHGEF10):c.3694C>G (p.Leu1232Val)
|
rs200895319
|
|
NM_014639.4(SKIC3):c.1325+4A>C
|
|
|
NM_014639.4(SKIC3):c.236G>T (p.Gly79Val)
|
|
|
NM_014639.4(SKIC3):c.2403T>G (p.Asn801Lys)
|
rs771747292
|
|
NM_014639.4(SKIC3):c.3521G>A (p.Arg1174His)
|
rs149287861
|
|
NM_014639.4(SKIC3):c.3847G>A (p.Asp1283Asn)
|
|
|
NM_014697.3(NOS1AP):c.453+18G>A
|
|
|
NM_014697.3(NOS1AP):c.454-6T>A
|
rs1335793126
|
|
NM_014697.3(NOS1AP):c.762+8A>G
|
rs1557890834
|
|
NM_014697.3(NOS1AP):c.92G>A (p.Cys31Tyr)
|
rs1691632353
|
|
NM_014698.3(TMEM63A):c.133dup (p.Val45fs)
|
|
|
NM_014698.3(TMEM63A):c.1973A>G (p.Lys658Arg)
|
|
|
NM_014704.4(CEP104):c.1954G>A (p.Asp652Asn)
|
|
|
NM_014704.4(CEP104):c.2179A>G (p.Lys727Glu)
|
|
|
NM_014704.4(CEP104):c.2765A>T (p.Tyr922Phe)
|
rs2124628629
|
|
NM_014704.4(CEP104):c.735+6G>T
|
|
|
NM_014712.3(SETD1A):c.1145A>G (p.Tyr382Cys)
|
|
|
NM_014712.3(SETD1A):c.2011G>A (p.Ala671Thr)
|
|
|
NM_014712.3(SETD1A):c.2440A>G (p.Met814Val)
|
|
|
NM_014712.3(SETD1A):c.2614A>T (p.Thr872Ser)
|
|
|
NM_014712.3(SETD1A):c.2964_2966del (p.Glu988del)
|
|
|
NM_014712.3(SETD1A):c.458A>G (p.Lys153Arg)
|
|
|
NM_014712.3(SETD1A):c.716A>T (p.Asn239Ile)
|
|
|
NM_014714.4(IFT140):c.1770+6G>C
|
|
|
NM_014714.4(IFT140):c.2102A>T (p.Glu701Val)
|
rs2141512703
|
|
NM_014714.4(IFT140):c.2458G>A (p.Ala820Thr)
|
rs2141185138
|
|
NM_014714.4(IFT140):c.248G>A (p.Gly83Glu)
|
rs2142041731
|
|
NM_014714.4(IFT140):c.4182G>A (p.Thr1394=)
|
|
|
NM_014714.4(IFT140):c.571T>G (p.Ser191Ala)
|
rs2141912232
|
|
NM_014727.3(KMT2B):c.1085A>G (p.Asp362Gly)
|
|
|
NM_014727.3(KMT2B):c.1090G>A (p.Glu364Lys)
|
|
|
NM_014727.3(KMT2B):c.1823C>T (p.Thr608Ile)
|
|
|
NM_014727.3(KMT2B):c.3323C>T (p.Pro1108Leu)
|
rs754957565
|
|
NM_014727.3(KMT2B):c.5485C>G (p.Pro1829Ala)
|
|
|
NM_014727.3(KMT2B):c.6248C>T (p.Thr2083Met)
|
|
|
NM_014727.3(KMT2B):c.641C>T (p.Ser214Phe)
|
|
|
NM_014727.3(KMT2B):c.958T>A (p.Ser320Thr)
|
|
|
NM_014762.4(DHCR24):c.55_56insCGCC (p.Arg19fs)
|
|
|
NM_014780.5(CUL7):c.2197C>T (p.His733Tyr)
|
rs979055833
|
|
NM_014780.5(CUL7):c.2581C>T (p.Pro861Ser)
|
rs147452416
|
|
NM_014780.5(CUL7):c.2744C>A (p.Ser915Tyr)
|
rs1157781142
|
|
NM_014780.5(CUL7):c.4355G>A (p.Gly1452Asp)
|
|
|
NM_014780.5(CUL7):c.5029C>T (p.Gln1677Ter)
|
|
|
NM_014780.5(CUL7):c.777T>A (p.His259Gln)
|
rs752414982
|
|
NM_014795.4(ZEB2):c.1297C>G (p.Gln433Glu)
|
|
|
NM_014795.4(ZEB2):c.808-12C>T
|
|
|
NM_014822.4(SEC24D):c.1753C>A (p.Pro585Thr)
|
rs750011350
|
|
NM_014822.4(SEC24D):c.1937C>T (p.Ser646Leu)
|
|
|
NM_014844.5(TECPR2):c.220-4C>A
|
rs199851151
|
|
NM_014846.4(WASHC5):c.1889T>C (p.Ile630Thr)
|
|
|
NM_014846.4(WASHC5):c.2780A>G (p.Asn927Ser)
|
|
|
NM_014846.4(WASHC5):c.3262dup (p.His1088fs)
|
rs2129963735
|
|
NM_014855.3(AP5Z1):c.1339A>G (p.Thr447Ala)
|
|
|
NM_014855.3(AP5Z1):c.2131C>T (p.Arg711Trp)
|
rs113184057
|
|
NM_014865.4(NCAPD2):c.1406C>T (p.Ala469Val)
|
|
|
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu)
|
rs879254011
|
|
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys)
|
rs2100849130
|
|
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile)
|
rs1557521949
|
|
NM_014874.4(MFN2):c.624G>T (p.Glu208Asp)
|
rs1162977959
|
|
NM_014875.3(KIF14):c.14G>T (p.Ser5Ile)
|
rs1256629719
|
|
NM_014875.3(KIF14):c.4506_4515delinsTTTAACCA (p.Glu1502fs)
|
rs2102550579
|
|
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly)
|
rs755188614
|
|
NM_014915.3(ANKRD26):c.-119C>G
|
rs1554800065
|
|
NM_014915.3(ANKRD26):c.875-19_896dup
|
|
|
NM_014921.5(ADGRL1):c.3712C>A (p.Pro1238Thr)
|
|
|
NM_014927.5(CNKSR2):c.1003A>G (p.Ser335Gly)
|
rs2091841106
|
|
NM_014946.4(SPAST):c.1076TTC[1] (p.Leu360del)
|
|
|
NM_014946.4(SPAST):c.1328T>G (p.Val443Gly)
|
rs2148753923
|
|
NM_014946.4(SPAST):c.1462_1463insTTA (p.Asn487_Arg488insIle)
|
|
|
NM_014946.4(SPAST):c.419G>A (p.Gly140Glu)
|
rs763649847
|
|
NM_014975.3(MAST1):c.4594C>T (p.Leu1532Phe)
|
|
|
NM_014975.3(MAST1):c.692G>A (p.Cys231Tyr)
|
|
|
NM_014989.7(RIMS1):c.4681C>T (p.Arg1561Ter)
|
rs1168986146
|
|
NM_014991.6(WDFY3):c.410G>A (p.Gly137Asp)
|
|
|
NM_014991.6(WDFY3):c.4744G>T (p.Asp1582Tyr)
|
|
|
NM_014991.6(WDFY3):c.6576G>A (p.Gly2192=)
|
rs2149201651
|
|
NM_014991.6(WDFY3):c.6722A>C (p.Glu2241Ala)
|
|
|
NM_014991.6(WDFY3):c.7799G>A (p.Ser2600Asn)
|
rs1734049966
|
|
NM_015015.3(KDM4B):c.1402C>T (p.Pro468Ser)
|
|
|
NM_015015.3(KDM4B):c.86A>G (p.Asn29Ser)
|
|
|
NM_015021.3(ZNF292):c.1424A>G (p.Asp475Gly)
|
|
|
NM_015021.3(ZNF292):c.2723C>T (p.Ser908Phe)
|
|
|
NM_015021.3(ZNF292):c.5630C>T (p.Thr1877Ile)
|
|
|
NM_015021.3(ZNF292):c.7003C>T (p.Arg2335Ter)
|
rs1168689294
|
|
NM_015021.3(ZNF292):c.722A>G (p.Asn241Ser)
|
|
|
NM_015021.3(ZNF292):c.7264A>G (p.Asn2422Asp)
|
|
|
NM_015021.3(ZNF292):c.7346A>T (p.Lys2449Ile)
|
|
|
NM_015021.3(ZNF292):c.7614T>A (p.Asn2538Lys)
|
|
|
NM_015021.3(ZNF292):c.7629_7633del (p.Lys2544fs)
|
|
|
NM_015028.4(TNIK):c.2215C>T (p.Gln739Ter)
|
|
|
NM_015046.7(SETX):c.1948A>G (p.Met650Val)
|
|
|
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del)
|
rs572772837
|
|
NM_015046.7(SETX):c.5375-9G>A
|
|
|
NM_015046.7(SETX):c.6691G>T (p.Ala2231Ser)
|
|
|
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr)
|
rs201887051
|
|
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del)
|
rs770590408
|
|
NM_015100.4(POGZ):c.1028G>A (p.Ser343Asn)
|
|
|
NM_015100.4(POGZ):c.1909C>T (p.His637Tyr)
|
rs1654692123
|
|
NM_015100.4(POGZ):c.3895C>G (p.Gln1299Glu)
|
|
|
NM_015100.4(POGZ):c.4135A>G (p.Ile1379Val)
|
|
|
NM_015100.4(POGZ):c.4148G>A (p.Ser1383Asn)
|
|
|
NM_015102.5(NPHP4):c.96G>T (p.Gln32His)
|
rs776102193
|
|
NM_015107.3(PHF8):c.-45_-44insGA
|
rs1347554525
|
|
NM_015107.3(PHF8):c.1879A>G (p.Lys627Glu)
|
|
|
NM_015107.3(PHF8):c.1987G>A (p.Asp663Asn)
|
|
|
NM_015141.4(GPD1L):c.215C>T (p.Pro72Leu)
|
rs1559573147
|
|
NM_015141.4(GPD1L):c.47+17T>C
|
|
|
NM_015141.4(GPD1L):c.629C>T (p.Ala210Val)
|
rs2125497783
|
|
NM_015158.5(KANK1):c.356C>G (p.Ser119Ter)
|
|
|
NM_015166.4(MLC1):c.235G>A (p.Glu79Lys)
|
rs1378938503
|
|
NM_015166.4(MLC1):c.806C>A (p.Ser269Tyr)
|
rs528700157
|
|
NM_015166.4(MLC1):c.909GCT[8] (p.Leu310dup)
|
rs761096481
|
|
NM_015175.3(NBEAL2):c.2044A>T (p.Ile682Phe)
|
rs773164015
|
|
NM_015175.3(NBEAL2):c.3584G>A (p.Arg1195Gln)
|
|
|
NM_015175.3(NBEAL2):c.3649G>T (p.Gly1217Trp)
|
|
|
NM_015175.3(NBEAL2):c.4399C>T (p.Arg1467Trp)
|
|
|
NM_015175.3(NBEAL2):c.7779_7781dup (p.Leu2594_Gly2595insLeu)
|
|
|
NM_015178.3(RHOBTB2):c.1474G>C (p.Glu492Gln)
|
|
|
NM_015198.5(COBL):c.958-41_960del
|
rs1794112004
|
|
NM_015202.5(KATNIP):c.2180A>T (p.His727Leu)
|
|
|
NM_015202.5(KATNIP):c.26C>A (p.Ala9Asp)
|
rs150063976
|
|
NM_015202.5(KATNIP):c.3346+8G>T
|
|
|
NM_015202.5(KATNIP):c.3370A>G (p.Ile1124Val)
|
|
|
NM_015205.3(ATP11A):c.673A>G (p.Lys225Glu)
|
|
|
NM_015215.4(CAMTA1):c.2290C>T (p.His764Tyr)
|
|
|
NM_015215.4(CAMTA1):c.2614A>G (p.Met872Val)
|
|
|
NM_015215.4(CAMTA1):c.4307C>T (p.Thr1436Ile)
|
|
|
NM_015215.4(CAMTA1):c.4982A>G (p.Tyr1661Cys)
|
|
|
NM_015261.3(NCAPD3):c.3867+5G>A
|
|
|
NM_015261.3(NCAPD3):c.4351G>A (p.Gly1451Arg)
|
|
|
NM_015267.4(CUX2):c.2377C>A (p.Arg793Ser)
|
|
|
NM_015267.4(CUX2):c.2566G>A (p.Gly856Ser)
|
|
|
NM_015267.4(CUX2):c.2569G>A (p.Ala857Thr)
|
|
|
NM_015278.5(SASH1):c.1097C>A (p.Pro366His)
|
|
|
NM_015295.3(SMCHD1):c.230C>G (p.Thr77Arg)
|
|
|
NM_015295.3(SMCHD1):c.4664T>C (p.Ile1555Thr)
|
|
|
NM_015311.3(OBSL1):c.2416G>A (p.Val806Met)
|
|
|
NM_015311.3(OBSL1):c.2608C>T (p.Gln870Ter)
|
|
|
NM_015311.3(OBSL1):c.2680+8G>A
|
|
|
NM_015311.3(OBSL1):c.2692_2693delinsGGTGT (p.Trp898delinsGlyVal)
|
rs2106067916
|
|
NM_015311.3(OBSL1):c.2826dup (p.Ala943fs)
|
rs759648512
|
|
NM_015311.3(OBSL1):c.2920G>A (p.Asp974Asn)
|
|
|
NM_015311.3(OBSL1):c.2953+495C>T
|
|
|
NM_015311.3(OBSL1):c.313C>G (p.Pro105Ala)
|
rs2106118353
|
|
NM_015311.3(OBSL1):c.319T>G (p.Ser107Ala)
|
rs2106118316
|
|
NM_015311.3(OBSL1):c.3351C>G (p.Asp1117Glu)
|
rs540064378
|
|
NM_015311.3(OBSL1):c.3451T>C (p.Tyr1151His)
|
|
|
NM_015311.3(OBSL1):c.3467G>A (p.Arg1156Gln)
|
|
|
NM_015311.3(OBSL1):c.3506_3509dup (p.Val1171fs)
|
|
|
NM_015311.3(OBSL1):c.3947A>G (p.Gln1316Arg)
|
|
|
NM_015311.3(OBSL1):c.4390C>T (p.Gln1464Ter)
|
rs1297285640
|
|
NM_015311.3(OBSL1):c.4535dup (p.Ile1513fs)
|
rs1434485676
|
|
NM_015311.3(OBSL1):c.4609+1G>A
|
rs371718828
|
|
NM_015311.3(OBSL1):c.4757del (p.His1586fs)
|
|
|
NM_015311.3(OBSL1):c.4783C>T (p.Arg1595Ter)
|
rs200174777
|
|
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter)
|
rs140825693
|
|
NM_015311.3(OBSL1):c.5388G>C (p.Gln1796His)
|
rs1298068212
|
|
NM_015311.3(OBSL1):c.5683+1G>C
|
|
|
NM_015335.5(MED13L):c.-9dup
|
rs2138617119
|
|
NM_015335.5(MED13L):c.1388C>A (p.Ala463Asp)
|
rs2137386497
|
|
NM_015335.5(MED13L):c.1390TCT[1] (p.Ser465del)
|
|
|
NM_015335.5(MED13L):c.1444A>G (p.Arg482Gly)
|
|
|
NM_015335.5(MED13L):c.4955+16A>T
|
|
|
NM_015338.6(ASXL1):c.3102A>T (p.Lys1034Asn)
|
|
|
NM_015338.6(ASXL1):c.3370C>G (p.Pro1124Ala)
|
|
|
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro)
|
rs144919978
|
|
NM_015354.3(NUP188):c.2347A>G (p.Ile783Val)
|
|
|
NM_015355.4(SUZ12):c.1039G>A (p.Glu347Lys)
|
|
|
NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu)
|
rs150146590
|
|
NM_015409.5(EP400):c.1990A>G (p.Thr664Ala)
|
rs1201953707
|
|
NM_015425.6(POLR1A):c.4244C>T (p.Ala1415Val)
|
|
|
NM_015426.5(POC1A):c.1126_1129delACAG
|
|
|
NM_015443.4(KANSL1):c.1290-3dup
|
|
|
NM_015443.4(KANSL1):c.1892C>G (p.Pro631Arg)
|
|
|
NM_015443.4(KANSL1):c.2906C>G (p.Pro969Arg)
|
rs2077030679
|
|
NM_015443.4(KANSL1):c.3305C>A (p.Pro1102Gln)
|
|
|
NM_015459.5(ATL3):c.1582dup (p.Asp528fs)
|
|
|
NM_015465.5(GEMIN5):c.1802C>T (p.Ala601Val)
|
|
|
NM_015465.5(GEMIN5):c.3337A>G (p.Ser1113Gly)
|
|
|
NM_015466.4(PTPN23):c.2029G>A (p.Asp677Asn)
|
|
|
NM_015466.4(PTPN23):c.2038G>A (p.Ala680Thr)
|
|
|
NM_015466.4(PTPN23):c.4495C>T (p.Gln1499Ter)
|
|
|
NM_015474.4(SAMHD1):c.2T>A (p.Met1Lys)
|
rs923362391
|
|
NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly)
|
rs778647626
|
|
NM_015474.4(SAMHD1):c.767A>C (p.Gln256Pro)
|
|
|
NM_015488.5(PNKD):c.458_465+1del
|
rs1464135710
|
|
NM_015488.5(PNKD):c.585del (p.Ser196fs)
|
rs761519363
|
|
NM_015488.5(PNKD):c.951G>A (p.Trp317Ter)
|
rs2106298428
|
|
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro)
|
rs756980496
|
|
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_015509.4(NECAP1):c.291G>T (p.Gln97His)
|
|
|
NM_015557.3(CHD5):c.*46+15G>A
|
|
|
NM_015557.3(CHD5):c.1411C>T (p.Arg471Trp)
|
|
|
NM_015557.3(CHD5):c.3627G>A (p.Met1209Ile)
|
|
|
NM_015557.3(CHD5):c.4336G>T (p.Ala1446Ser)
|
|
|
NM_015557.3(CHD5):c.4672C>G (p.Leu1558Val)
|
|
|
NM_015557.3(CHD5):c.5003-3delinsGA
|
|
|
NM_015557.3(CHD5):c.931G>T (p.Val311Leu)
|
|
|
NM_015559.3(SETBP1):c.1058A>G (p.Asp353Gly)
|
rs559254343
|
|
NM_015559.3(SETBP1):c.2762A>G (p.His921Arg)
|
|
|
NM_015559.3(SETBP1):c.3957G>A (p.Met1319Ile)
|
rs2145116923
|
|
NM_015559.3(SETBP1):c.4075A>G (p.Met1359Val)
|
|
|
NM_015559.3(SETBP1):c.4178C>T (p.Ser1393Phe)
|
|
|
NM_015559.3(SETBP1):c.4201C>G (p.Arg1401Gly)
|
|
|
NM_015559.3(SETBP1):c.4528G>C (p.Glu1510Gln)
|
|
|
NM_015559.3(SETBP1):c.923G>A (p.Cys308Tyr)
|
|
|
NM_015570.4(AUTS2):c.2584_2585delinsTT (p.Pro862Leu)
|
|
|
NM_015570.4(AUTS2):c.2734_2739dup (p.Lys912_Glu913dup)
|
rs1554488624
|
|
NM_015602.4(TOR1AIP1):c.323C>G (p.Ser108Cys)
|
|
|
NM_015627.3(LDLRAP1):c.*6C>T
|
|
|
NM_015627.3(LDLRAP1):c.122C>A (p.Thr41Lys)
|
|
|
NM_015627.3(LDLRAP1):c.231+3G>A
|
|
|
NM_015627.3(LDLRAP1):c.232-13G>C
|
|
|
NM_015627.3(LDLRAP1):c.337A>G (p.Ile113Val)
|
|
|
NM_015627.3(LDLRAP1):c.374A>T (p.His125Leu)
|
|
|
NM_015627.3(LDLRAP1):c.458T>C (p.Met153Thr)
|
|
|
NM_015627.3(LDLRAP1):c.48C>G (p.Ser16Arg)
|
rs2043858170
|
|
NM_015627.3(LDLRAP1):c.502G>A (p.Ala168Thr)
|
|
|
NM_015627.3(LDLRAP1):c.601C>G (p.Pro201Ala)
|
|
|
NM_015627.3(LDLRAP1):c.601_604delinsGCCC (p.Pro201_Ser202delinsAlaPro)
|
|
|
NM_015627.3(LDLRAP1):c.602C>G (p.Pro201Arg)
|
|
|
NM_015627.3(LDLRAP1):c.616+12C>T
|
|
|
NM_015627.3(LDLRAP1):c.617-14C>G
|
rs146324847
|
|
NM_015627.3(LDLRAP1):c.626C>G (p.Thr209Ser)
|
|
|
NM_015627.3(LDLRAP1):c.67G>C (p.Gly23Arg)
|
|
|
NM_015627.3(LDLRAP1):c.705G>C (p.Glu235Asp)
|
|
|
NM_015627.3(LDLRAP1):c.733A>G (p.Ser245Gly)
|
rs2044408614
|
|
NM_015627.3(LDLRAP1):c.782G>A (p.Arg261Lys)
|
|
|
NM_015627.3(LDLRAP1):c.79C>T (p.Arg27Trp)
|
|
|
NM_015627.3(LDLRAP1):c.88+15G>T
|
|
|
NM_015631.6(TCTN3):c.1561C>T (p.Arg521Ter)
|
|
|
NM_015656.2(KIF26A):c.4676C>T (p.Ala1559Val)
|
|
|
NM_015656.2(KIF26A):c.5297C>T (p.Pro1766Leu)
|
|
|
NM_015665.6(AAAS):c.1639dup (p.Ter547LeuextTer?)
|
|
|
NM_015665.6(AAAS):c.170C>T (p.Thr57Ile)
|
rs773065657
|
|
NM_015665.6(AAAS):c.387C>A (p.Phe129Leu)
|
rs780649615
|
|
NM_015681.6(B9D1):c.505CTC[1] (p.Leu170del)
|
|
|
NM_015713.5(RRM2B):c.48+188del
|
rs758091261
|
|
NM_015721.3(GEMIN4):c.1852C>T (p.Pro618Ser)
|
|
|
NM_015721.3(GEMIN4):c.803A>G (p.Lys268Arg)
|
|
|
NM_015726.4(DCAF8):c.1684C>T (p.Arg562Ter)
|
|
|
NM_015726.4(DCAF8):c.1726T>C (p.Ser576Pro)
|
|
|
NM_015726.4(DCAF8):c.959+4A>C
|
|
|
NM_015895.5(GMNN):c.626T>C (p.Ile209Thr)
|
|
|
NM_015898.4(ZBTB7A):c.807del (p.Asn269fs)
|
|
|
NM_015909.4(NBAS):c.1361C>G (p.Pro454Arg)
|
|
|
NM_015909.4(NBAS):c.180A>C (p.Leu60Phe)
|
rs761264279
|
|
NM_015909.4(NBAS):c.287+6G>C
|
rs577292051
|
|
NM_015909.4(NBAS):c.603_605del (p.Leu202del)
|
rs796065038
|
|
NM_015909.4(NBAS):c.703_705del (p.Tyr235del)
|
rs774017689
|
|
NM_015909.4(NBAS):c.7093C>T (p.Arg2365Cys)
|
|
|
NM_015922.3(NSDHL):c.1037C>A (p.Ala346Asp)
|
|
|
NM_015922.3(NSDHL):c.529A>G (p.Ile177Val)
|
|
|
NM_015922.3(NSDHL):c.901T>A (p.Tyr301Asn)
|
rs144110486
|
|
NM_015932.6(POMP):c.163-5del
|
rs2137795105
|
|
NM_015937.6(PIGT):c.1570A>T (p.Met524Leu)
|
|
|
NM_015959.4(TMX2):c.818A>G (p.Asn273Ser)
|
|
|
NM_015981.4(CAMK2A):c.1060A>G (p.Thr354Ala)
|
|
|
NM_015981.4(CAMK2A):c.1467-7C>G
|
|
|
NM_015981.4(CAMK2A):c.273-6C>T
|
|
|
NM_016030.6(TRAPPC12):c.1963G>C (p.Val655Leu)
|
|
|
NM_016032.4(ZDHHC9):c.949A>T (p.Thr317Ser)
|
rs1927624839
|
|
NM_016042.4(EXOSC3):c.17C>G (p.Ser6Cys)
|
rs749691951
|
|
NM_016042.4(EXOSC3):c.545A>T (p.Asp182Val)
|
|
|
NM_016042.4(EXOSC3):c.5C>T (p.Ala2Val)
|
rs754046728
|
|
NM_016042.4(EXOSC3):c.673dup (p.Tyr225fs)
|
|
|
NM_016042.4(EXOSC3):c.85C>T (p.Leu29Phe)
|
rs1828677509
|
|
NM_016058.5(TPRKB):c.420_423del (p.Met140fs)
|
|
|
NM_016111.4(TELO2):c.1826G>T (p.Arg609Leu)
|
|
|
NM_016111.4(TELO2):c.466C>G (p.Leu156Val)
|
|
|
NM_016120.4(RLIM):c.485G>A (p.Arg162His)
|
|
|
NM_016138.5(COQ7):c.507G>C (p.Gln169His)
|
|
|
NM_016139.4(CHCHD2):c.115C>A (p.Pro39Thr)
|
|
|
NM_016139.4(CHCHD2):c.151C>T (p.Arg51Trp)
|
|
|
NM_016156.6(MTMR2):c.1610C>T (p.Thr537Ile)
|
|
|
NM_016180.5(SLC45A2):c.328G>C (p.Gly110Arg)
|
|
|
NM_016203.4(PRKAG2):c.1024G>A (p.Glu342Lys)
|
rs2151024095
|
|
NM_016203.4(PRKAG2):c.1399+8T>C
|
rs750475269
|
|
NM_016203.4(PRKAG2):c.477CTC[2] (p.Ser162del)
|
rs1002236859
|
|
NM_016218.6(POLK):c.2207_2208del (p.Ser735_Phe736insTer)
|
|
|
NM_016239.4(MYO15A):c.4828G>A (p.Glu1610Lys)
|
|
|
NM_016239.4(MYO15A):c.8552C>T (p.Ala2851Val)
|
|
|
NM_016239.4(MYO15A):c.8896G>A (p.Gly2966Ser)
|
rs753596096
|
|
NM_016263.4(FZR1):c.826G>A (p.Ala276Thr)
|
|
|
NM_016277.5(RAB23):c.1A>C (p.Met1Leu)
|
|
|
NM_016277.5(RAB23):c.83G>A (p.Arg28Gln)
|
|
|
NM_016284.5(CNOT1):c.1585-14del
|
|
|
NM_016284.5(CNOT1):c.1624A>G (p.Met542Val)
|
|
|
NM_016284.5(CNOT1):c.225T>G (p.Ile75Met)
|
|
|
NM_016284.5(CNOT1):c.326C>A (p.Pro109His)
|
|
|
NM_016333.4(SRRM2):c.7240C>T (p.Pro2414Ser)
|
|
|
NM_016335.6(PRODH):c.1A>G (p.Met1Val)
|
rs1036292619
|
|
NM_016335.6(PRODH):c.733C>T (p.Leu245=)
|
|
|
NM_016343.4(CENPF):c.1090C>G (p.Leu364Val)
|
|
|
NM_016343.4(CENPF):c.40A>G (p.Thr14Ala)
|
|
|
NM_016363.5(GP6):c.*531T>C
|
|
|
NM_016363.5(GP6):c.932CCCTCCCGC[1] (p.308PLP[2])
|
|
|
NM_016373.4(WWOX):c.*134C>T
|
|
|
NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter)
|
rs1484856529
|
|
NM_016373.4(WWOX):c.766A>T (p.Ile256Phe)
|
rs1023419687
|
|
NM_016408.4(CDK5RAP1):c.1107+5G>A
|
rs759907757
|
|
NM_016464.5(TMEM138):c.415G>T (p.Val139Leu)
|
rs141029883
|
|
NM_016529.6(ATP8A2):c.1185+5G>T
|
|
|
NM_016529.6(ATP8A2):c.2449_2451del (p.Leu817del)
|
rs1566119701
|
|
NM_016589.4(TIMMDC1):c.814del (p.Leu272fs)
|
rs750461248
|
|
NM_016604.4(KDM3B):c.3398C>A (p.Ser1133Tyr)
|
|
|
NM_016604.4(KDM3B):c.3761C>G (p.Pro1254Arg)
|
|
|
NM_016604.4(KDM3B):c.583C>A (p.Pro195Thr)
|
|
|
NM_016604.4(KDM3B):c.92C>T (p.Ala31Val)
|
|
|
NM_016628.5(WAC):c.451C>G (p.Arg151Gly)
|
rs886041614
|
|
NM_016628.5(WAC):c.611-3A>C
|
|
|
NM_016628.5(WAC):c.970A>T (p.Thr324Ser)
|
|
|
NM_016653.3(MAP3K20):c.1894C>T (p.Gln632Ter)
|
|
|
NM_016824.5(ADD3):c.1733-1G>A
|
|
|
NM_016938.5(EFEMP2):c.-7-12A>G
|
|
|
NM_016938.5(EFEMP2):c.311A>G (p.Gln104Arg)
|
|
|
NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu)
|
rs376350227
|
|
NM_016938.5(EFEMP2):c.781G>A (p.Glu261Lys)
|
|
|
NM_016953.4(PDE11A):c.2611G>C (p.Glu871Gln)
|
|
|
NM_016955.4(SEPSECS):c.114+5C>T
|
|
|
NM_017414.4(USP18):c.220G>A (p.Val74Ile)
|
|
|
NM_017491.5(WDR1):c.605A>C (p.Asn202Thr)
|
|
|
NM_017514.5(PLXNA3):c.1540C>T (p.Arg514Ter)
|
|
|
NM_017534.6(MYH2):c.4572A>C (p.Glu1524Asp)
|
rs1243834294
|
|
NM_017547.4(FOXRED1):c.1384C>T (p.Gln462Ter)
|
|
|
NM_017547.4(FOXRED1):c.1403C>G (p.Pro468Arg)
|
rs142489681
|
|
NM_017556.4(FBLIM1):c.113G>A (p.Arg38Gln)
|
|
|
NM_017563.5(IL17RD):c.31T>G (p.Phe11Val)
|
|
|
NM_017613.4(DONSON):c.965-13G>A
|
|
|
NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys)
|
rs750170645
|
|
NM_017617.5(NOTCH1):c.3326-12C>T
|
|
|
NM_017617.5(NOTCH1):c.5446G>A (p.Glu1816Lys)
|
|
|
NM_017649.5(CNNM2):c.2019A>C (p.Glu673Asp)
|
|
|
NM_017649.5(CNNM2):c.2299C>T (p.Arg767Trp)
|
|
|
NM_017649.5(CNNM2):c.415G>T (p.Ala139Ser)
|
|
|
NM_017654.4(SAMD9):c.3000T>A (p.Tyr1000Ter)
|
rs1428124013
|
|
NM_017654.4(SAMD9):c.3402G>A (p.Trp1134Ter)
|
|
|
NM_017654.4(SAMD9):c.4270C>G (p.Leu1424Val)
|
|
|
NM_017654.4(SAMD9):c.4276T>C (p.Tyr1426His)
|
|
|
NM_017667.4(VPS50):c.1361+1G>T
|
|
|
NM_017668.3(NDE1):c.948-7057G>A
|
rs371348553
|
|
NM_017672.6(TRPM7):c.1504C>A (p.Pro502Thr)
|
|
|
NM_017672.6(TRPM7):c.1609T>C (p.Tyr537His)
|
|
|
NM_017672.6(TRPM7):c.4333_4334del (p.Arg1444_Asp1445insTer)
|
rs2059433712
|
|
NM_017672.6(TRPM7):c.4396A>G (p.Asn1466Asp)
|
|
|
NM_017672.6(TRPM7):c.4557+18A>G
|
|
|
NM_017672.6(TRPM7):c.5156T>C (p.Val1719Ala)
|
|
|
NM_017672.6(TRPM7):c.590G>A (p.Arg197Gln)
|
|
|
NM_017721.5(CC2D1A):c.1610C>T (p.Ser537Leu)
|
|
|
NM_017739.4(POMGNT1):c.164T>G (p.Ile55Ser)
|
rs2148219221
|
|
NM_017739.4(POMGNT1):c.1943dup (p.Glu650fs)
|
rs1557668503
|
|
NM_017739.4(POMGNT1):c.293T>A (p.Val98Asp)
|
rs1571669565
|
|
NM_017739.4(POMGNT1):c.452C>A (p.Thr151Lys)
|
rs886044363
|
|
NM_017757.3(ZNF407):c.266A>G (p.Gln89Arg)
|
|
|
NM_017760.7(NCAPG2):c.1004T>G (p.Leu335Arg)
|
|
|
NM_017760.7(NCAPG2):c.1088C>T (p.Pro363Leu)
|
|
|
NM_017760.7(NCAPG2):c.2723G>A (p.Arg908Gln)
|
|
|
NM_017760.7(NCAPG2):c.79-4A>G
|
|
|
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs)
|
rs1555596710
|
|
NM_017777.4(MKS1):c.1572del (p.Ile525fs)
|
|
|
NM_017777.4(MKS1):c.763G>A (p.Gly255Arg)
|
rs201237547
|
|
NM_017780.4(CHD7):c.1068C>G (p.Asn356Lys)
|
|
|
NM_017780.4(CHD7):c.3566G>A (p.Arg1189His)
|
rs1554599432
|
|
NM_017780.4(CHD7):c.5126A>T (p.Asp1709Val)
|
rs768971850
|
|
NM_017780.4(CHD7):c.5765G>A (p.Arg1922His)
|
|
|
NM_017780.4(CHD7):c.973A>C (p.Asn325His)
|
rs1563561089
|
|
NM_017819.4(TRMT10C):c.775_778del (p.Val259fs)
|
|
|
NM_017841.4(SDHAF2):c.370+2T>C
|
rs770444026
|
|
NM_017864.4(INTS8):c.2210G>A (p.Gly737Asp)
|
|
|
NM_017864.4(INTS8):c.736G>A (p.Glu246Lys)
|
|
|
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)
|
rs777921628
|
|
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly)
|
rs772893554
|
|
NM_017882.3(CLN6):c.507CTA[1] (p.Tyr172del)
|
|
|
NM_017917.4(PPP2R3C):c.713_714del (p.Ile238fs)
|
|
|
NM_017934.7(PHIP):c.1505T>C (p.Ile502Thr)
|
|
|
NM_017934.7(PHIP):c.2072G>T (p.Arg691Leu)
|
|
|
NM_017934.7(PHIP):c.440-15T>C
|
|
|
NM_017934.7(PHIP):c.5019_5020insG (p.Leu1674fs)
|
|
|
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)
|
rs753112330
|
|
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del)
|
rs762710723
|
|
NM_018006.5(TRMU):c.554T>C (p.Leu185Pro)
|
|
|
NM_018006.5(TRMU):c.77_82+16dup
|
|
|
NM_018026.4(PACS1):c.1138G>A (p.Asp380Asn)
|
rs940755396
|
|
NM_018026.4(PACS1):c.1339A>T (p.Asn447Tyr)
|
rs1855491969
|
|
NM_018026.4(PACS1):c.1994-7C>T
|
|
|
NM_018026.4(PACS1):c.357-4C>T
|
|
|
NM_018026.4(PACS1):c.875G>T (p.Ser292Ile)
|
|
|
NM_018052.5(VAC14):c.947-2A>G
|
|
|
NM_018062.4(FANCL):c.*102_*105dup
|
|
|
NM_018062.4(FANCL):c.49C>T (p.Pro17Ser)
|
rs2104081877
|
|
NM_018063.5(HELLS):c.41C>A (p.Ala14Asp)
|
rs1842754714
|
|
NM_018077.3(RBM28):c.2098C>T (p.Gln700Ter)
|
|
|
NM_018100.4(EFHC1):c.917-16C>T
|
|
|
NM_018112.3(TMEM38B):c.3G>A (p.Met1Ile)
|
|
|
NM_018116.4(MSTO1):c.44A>G (p.His15Arg)
|
rs926774989
|
|
NM_018117.12(WDR11):c.2144G>C (p.Cys715Ser)
|
|
|
NM_018249.6(CDK5RAP2):c.4039_4041delinsGTA (p.Leu1347Val)
|
rs1554734754
|
|
NM_018263.6(ASXL2):c.*10A>G
|
|
|
NM_018263.6(ASXL2):c.1529C>T (p.Ser510Phe)
|
|
|
NM_018263.6(ASXL2):c.3839A>T (p.Lys1280Met)
|
|
|
NM_018263.6(ASXL2):c.4170G>C (p.Glu1390Asp)
|
|
|
NM_018294.6(CWF19L1):c.1037G>T (p.Gly346Val)
|
|
|
NM_018297.4(NGLY1):c.1612-34A>G
|
|
|
NM_018297.4(NGLY1):c.544G>C (p.Val182Leu)
|
rs981738620
|
|
NM_018328.5:c.(-925+1_-924-1)_(-831+1_-830-1)del
|
|
|
NM_018367.7(ACER3):c.227G>A (p.Gly76Glu)
|
rs1947914876
|
|
NM_018392.5(ZGRF1):c.5089A>G (p.Thr1697Ala)
|
|
|
NM_018418.5(SPATA7):c.1249G>C (p.Val417Leu)
|
rs1353547274
|
|
NM_018418.5(SPATA7):c.1582del (p.Ser528fs)
|
|
|
NM_018418.5(SPATA7):c.55C>G (p.Pro19Ala)
|
rs2075741859
|
|
NM_018486.3(HDAC8):c.433A>G (p.Lys145Glu)
|
rs2051860492
|
|
NM_018489.3(ASH1L):c.179C>T (p.Ala60Val)
|
|
|
NM_018489.3(ASH1L):c.5337C>G (p.Ile1779Met)
|
|
|
NM_018489.3(ASH1L):c.5603A>C (p.Gln1868Pro)
|
rs1040483514
|
|
NM_018489.3(ASH1L):c.5842C>T (p.Pro1948Ser)
|
|
|
NM_018489.3(ASH1L):c.8392C>G (p.Pro2798Ala)
|
|
|
NM_018489.3(ASH1L):c.8460+11T>C
|
|
|
NM_018558.4(GABRQ):c.1618_1619del (p.Lys540fs)
|
rs1931070303
|
|
NM_018668.5(VPS33B):c.239A>G (p.Gln80Arg)
|
|
|
NM_018668.5(VPS33B):c.701-7_701-6del
|
|
|
NM_018668.5(VPS33B):c.728C>T (p.Ser243Phe)
|
|
|
NM_018669.6(WDR4):c.441G>A (p.Met147Ile)
|
rs910873595
|
|
NM_018676.4(THSD1):c.1996C>T (p.Arg666Ter)
|
|
|
NM_018684.4(ZC4H2):c.470C>T (p.Ala157Val)
|
|
|
NM_018684.4(ZC4H2):c.502G>A (p.Ala168Thr)
|
|
|
NM_018699.4(PRDM5):c.3G>T (p.Met1Ile)
|
rs1725110495
|
|
NM_018699.4(PRDM5):c.414G>T (p.Met138Ile)
|
rs776045160
|
|
NM_018706.7(DHTKD1):c.1390G>A (p.Glu464Lys)
|
|
|
NM_018706.7(DHTKD1):c.1906A>G (p.Ser636Gly)
|
|
|
NM_018706.7(DHTKD1):c.2659-3_2659-2del
|
rs761529786
|
|
NM_018706.7(DHTKD1):c.562A>G (p.Lys188Glu)
|
|
|
NM_018706.7(DHTKD1):c.915G>C (p.Gln305His)
|
|
|
NM_018834.6(MATR3):c.-16_-15del
|
|
|
NM_018838.5(NDUFA12):c.305del (p.Pro102fs)
|
|
|
NM_018896.5(CACNA1G):c.1796C>T (p.Pro599Leu)
|
|
|
NM_018896.5(CACNA1G):c.2454-19C>A
|
|
|
NM_018896.5(CACNA1G):c.3065-8C>T
|
|
|
NM_018896.5(CACNA1G):c.3361C>T (p.Arg1121Trp)
|
|
|
NM_018896.5(CACNA1G):c.3721C>T (p.Arg1241Ter)
|
rs1288005196
|
|
NM_018896.5(CACNA1G):c.4421A>T (p.Gln1474Leu)
|
|
|
NM_018896.5(CACNA1G):c.4735G>A (p.Gly1579Ser)
|
|
|
NM_018896.5(CACNA1G):c.6386C>A (p.Pro2129Gln)
|
|
|
NM_018896.5(CACNA1G):c.6692del (p.Pro2231fs)
|
|
|
NM_018897.3(DNAH7):c.7208_7212del (p.Ile2403fs)
|
rs759286413
|
|
NM_018941.4(CLN8):c.46C>A (p.Leu16Met)
|
rs386834129
|
|
NM_018941.4(CLN8):c.611G>T (p.Arg204Leu)
|
rs386834134
|
|
NM_018941.4(CLN8):c.631A>G (p.Met211Val)
|
rs745785480
|
|
NM_018941.4(CLN8):c.71G>A (p.Arg24His)
|
|
|
NM_018943.3(TUBA8):c.817G>A (p.Ala273Thr)
|
|
|
NM_018965.4(TREM2):c.22A>T (p.Ile8Phe)
|
|
|
NM_018965.4(TREM2):c.41-20AATG[3]
|
|
|
NM_018972.4(GDAP1):c.1038C>G (p.Ser346Arg)
|
|
|
NM_018972.4(GDAP1):c.25A>G (p.Arg9Gly)
|
|
|
NM_018972.4(GDAP1):c.345C>G (p.Ser115Arg)
|
|
|
NM_018972.4(GDAP1):c.348G>A (p.Met116Ile)
|
|
|
NM_018972.4(GDAP1):c.524C>G (p.Ala175Gly)
|
|
|
NM_018979.4(WNK1):c.3263C>T (p.Ser1088Phe)
|
|
|
NM_018979.4(WNK1):c.5684T>C (p.Leu1895Pro)
|
|
|
NM_018979.4(WNK1):c.6935C>G (p.Ser2312Cys)
|
|
|
NM_018993.4(RIN2):c.842G>C (p.Ser281Thr)
|
|
|
NM_019042.5(PUS7):c.788A>C (p.Tyr263Ser)
|
|
|
NM_019066.5(MAGEL2):c.1922C>T (p.Pro641Leu)
|
|
|
NM_019066.5(MAGEL2):c.2705C>A (p.Thr902Lys)
|
|
|
NM_019066.5(MAGEL2):c.3076G>T (p.Ala1026Ser)
|
|
|
NM_019066.5(MAGEL2):c.3118C>T (p.Pro1040Ser)
|
|
|
NM_019066.5(MAGEL2):c.3544T>A (p.Phe1182Ile)
|
rs2140711896
|
|
NM_019074.4(DLL4):c.1336C>A (p.Arg446Ser)
|
rs751873412
|
|
NM_019098.5(CNGB3):c.2103+3A>G
|
|
|
NM_019109.5(ALG1):c.1393dup (p.Ter465LeuextTer?)
|
|
|
NM_019109.5(ALG1):c.[212C>T;221A>T]
|
|
|
NM_019112.4(ABCA7):c.2535dup (p.Gly846fs)
|
rs1487739224
|
|
NM_019112.4(ABCA7):c.3397G>C (p.Gly1133Arg)
|
|
|
NM_019112.4(ABCA7):c.5139T>G (p.Phe1713Leu)
|
|
|
NM_019112.4(ABCA7):c.6122A>C (p.Glu2041Ala)
|
rs574674874
|
|
NM_019616.4(F7):c.185T>C (p.Phe62Ser)
|
|
|
NM_019616.4(F7):c.742G>A (p.Glu248Lys)
|
|
|
NM_019616.4(F7):c.748G>A (p.Asp250Asn)
|
|
|
NM_019616.4(F7):c.838G>A (p.Asp280Asn)
|
|
|
NM_019842.4(KCNQ5):c.*11_*12del
|
|
|
NM_019842.4(KCNQ5):c.1358C>T (p.Thr453Ile)
|
rs2150457602
|
|
NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr)
|
rs863225200
|
|
NM_019892.6(INPP5E):c.1905_1906del (p.Asn636fs)
|
rs2131604074
|
|
NM_019892.6(INPP5E):c.485C>G (p.Ser162Cys)
|
rs2131618652
|
|
NM_020066.5(FMN2):c.3149C>T (p.Ala1050Val)
|
|
|
NM_020117.11(LARS1):c.1283C>T (p.Pro428Leu)
|
|
|
NM_020117.11(LARS1):c.1834G>A (p.Gly612Arg)
|
|
|
NM_020117.11(LARS1):c.2130CCT[1] (p.Leu712del)
|
|
|
NM_020117.11(LARS1):c.3240C>G (p.His1080Gln)
|
|
|
NM_020134.4(DPYSL5):c.312C>A (p.Asp104Glu)
|
|
|
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro)
|
rs755328329
|
|
NM_020166.5(MCCC1):c.1417C>G (p.Leu473Val)
|
rs565662458
|
|
NM_020166.5(MCCC1):c.168C>G (p.Asn56Lys)
|
rs1057520695
|
|
NM_020166.5(MCCC1):c.221_222delinsCC (p.Gln74Pro)
|
|
|
NM_020191.4(MRPS22):c.878+2dup
|
|
|
NM_020223.4(FAM20C):c.145G>A (p.Ala49Thr)
|
|
|
NM_020247.5(COQ8A):c.1806dup (p.Pro603fs)
|
|
|
NM_020297.4(ABCC9):c.1006A>G (p.Thr336Ala)
|
|
|
NM_020297.4(ABCC9):c.143-1G>C
|
|
|
NM_020297.4(ABCC9):c.1456-10del
|
rs763459861
|
|
NM_020297.4(ABCC9):c.233C>T (p.Ala78Val)
|
rs1253372454
|
|
NM_020297.4(ABCC9):c.23ACA[1] (p.Asn9del)
|
rs1949499149
|
|
NM_020297.4(ABCC9):c.2914A>T (p.Arg972Trp)
|
rs1565731883
|
|
NM_020297.4(ABCC9):c.3076A>G (p.Asn1026Asp)
|
rs369389402
|
|
NM_020297.4(ABCC9):c.3669+4C>T
|
rs189565793
|
|
NM_020297.4(ABCC9):c.3868T>C (p.Ser1290Pro)
|
|
|
NM_020297.4(ABCC9):c.4103-1G>A
|
rs1189432427
|
|
NM_020297.4(ABCC9):c.4112T>G (p.Val1371Gly)
|
|
|
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT
|
rs869025349
|
|
NM_020297.4(ABCC9):c.4512+826C>T
|
rs2137103904
|
|
NM_020297.4(ABCC9):c.907T>C (p.Phe303Leu)
|
|
|
NM_020320.5(RARS2):c.1037C>T (p.Thr346Ile)
|
rs1773402352
|
|
NM_020320.5(RARS2):c.213+4C>T
|
|
|
NM_020320.5(RARS2):c.488A>G (p.His163Arg)
|
rs1260340118
|
|
NM_020320.5(RARS2):c.536-5G>A
|
rs1781141008
|
|
NM_020320.5(RARS2):c.734G>A (p.Arg245Gln)
|
|
|
NM_020320.5(RARS2):c.878+3A>G
|
|
|
NM_020338.4(ZMIZ1):c.1534G>A (p.Val512Ile)
|
|
|
NM_020338.4(ZMIZ1):c.2749G>A (p.Gly917Arg)
|
|
|
NM_020338.4(ZMIZ1):c.770G>A (p.Gly257Asp)
|
rs1472157297
|
|
NM_020361.5(CPA6):c.1072C>A (p.Leu358Ile)
|
|
|
NM_020361.5(CPA6):c.192G>C (p.Lys64Asn)
|
|
|
NM_020365.5(EIF2B3):c.1A>C (p.Met1Leu)
|
rs2148965825
|
|
NM_020365.5(EIF2B3):c.284C>T (p.Pro95Leu)
|
rs778945531
|
|
NM_020365.5(EIF2B3):c.407A>C (p.Gln136Pro)
|
rs113994023
|
|
NM_020366.4(RPGRIP1):c.3358A>C (p.Ile1120Leu)
|
rs137853911
|
|
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del)
|
rs281865293
|
|
NM_020381.4(PDSS2):c.1045C>T (p.Arg349Ter)
|
rs370370070
|
|
NM_020401.4(NUP107):c.2670+1G>A
|
|
|
NM_020401.4(NUP107):c.2673A>G (p.Val891=)
|
|
|
NM_020433.5(JPH2):c.-4T>A
|
|
|
NM_020433.5(JPH2):c.502A>C (p.Ser168Arg)
|
rs869025439
|
|
NM_020436.5(SALL4):c.2803A>G (p.Ile935Val)
|
|
|
NM_020436.5(SALL4):c.526G>A (p.Val176Met)
|
|
|
NM_020442.6(VARS2):c.*6C>T
|
|
|
NM_020442.6(VARS2):c.100C>G (p.Pro34Ala)
|
|
|
NM_020451.3(SELENON):c.1730T>C (p.Leu577Pro)
|
|
|
NM_020451.3(SELENON):c.1772A>G (p.Ter591Trp)
|
rs2124456999
|
|
NM_020458.4(TTC7A):c.1802+3G>C
|
rs1572961263
|
|
NM_020458.4(TTC7A):c.2387G>A (p.Ser796Asn)
|
rs1684976086
|
|
NM_020533.3(MCOLN1):c.1701C>A (p.Cys567Ter)
|
rs765975281
|
|
NM_020533.3(MCOLN1):c.1704A>T (p.Gly568=)
|
rs751298168
|
|
NM_020533.3(MCOLN1):c.571+17A>T
|
rs2146022957
|
|
NM_020549.5(CHAT):c.1069G>C (p.Gly357Arg)
|
|
|
NM_020549.5(CHAT):c.196_198delinsGG (p.Arg66fs)
|
|
|
NM_020549.5(CHAT):c.2209del (p.Glu737fs)
|
|
|
NM_020549.5(CHAT):c.58del (p.Glu20fs)
|
|
|
NM_020549.5(CHAT):c.59_60del (p.Glu20fs)
|
rs531450737
|
|
NM_020549.5(CHAT):c.605T>C (p.Met202Thr)
|
|
|
NM_020549.5(CHAT):c.6del (p.Gly2_Leu3insTer)
|
rs1838384543
|
|
NM_020632.3(ATP6V0A4):c.1342G>A (p.Gly448Arg)
|
|
|
NM_020632.3(ATP6V0A4):c.1418C>T (p.Ser473Phe)
|
|
|
NM_020632.3(ATP6V0A4):c.2521T>C (p.Ter841Gln)
|
rs2117166318
|
|
NM_020638.3(FGF23):c.470T>A (p.Phe157Tyr)
|
|
|
NM_020638.3(FGF23):c.688G>A (p.Gly230Ser)
|
|
|
NM_020638.3(FGF23):c.70G>A (p.Ala24Thr)
|
|
|
NM_020638.3(FGF23):c.725A>G (p.Glu242Gly)
|
|
|
NM_020655.4(JPH3):c.434G>A (p.Arg145Gln)
|
|
|
NM_020655.4(JPH3):c.524C>T (p.Thr175Met)
|
|
|
NM_020686.6(ABAT):c.1034G>A (p.Gly345Asp)
|
rs2142996825
|
|
NM_020699.4(GATAD2B):c.1518T>G (p.His506Gln)
|
|
|
NM_020699.4(GATAD2B):c.899C>G (p.Pro300Arg)
|
|
|
NM_020708.5(SLC12A5):c.1447T>C (p.Ser483Pro)
|
rs2084581427
|
|
NM_020708.5(SLC12A5):c.280-6T>G
|
|
|
NM_020717.5(SHROOM4):c.1628C>T (p.Thr543Ile)
|
|
|
NM_020717.5(SHROOM4):c.239C>T (p.Ser80Phe)
|
rs2147456128
|
|
NM_020719.3(PRR12):c.4945T>C (p.Phe1649Leu)
|
|
|
NM_020738.4(KIDINS220):c.1184G>A (p.Arg395Gln)
|
|
|
NM_020738.4(KIDINS220):c.1858A>G (p.Thr620Ala)
|
|
|
NM_020738.4(KIDINS220):c.3007G>A (p.Glu1003Lys)
|
|
|
NM_020738.4(KIDINS220):c.3374A>G (p.Tyr1125Cys)
|
rs1667135480
|
|
NM_020745.4(AARS2):c.1289A>G (p.Asp430Gly)
|
|
|
NM_020754.4(ARHGAP31):c.1847G>A (p.Arg616Gln)
|
|
|
NM_020754.4(ARHGAP31):c.2785G>A (p.Ala929Thr)
|
|
|
NM_020754.4(ARHGAP31):c.3147C>A (p.His1049Gln)
|
|
|
NM_020754.4(ARHGAP31):c.3343A>G (p.Ile1115Val)
|
|
|
NM_020754.4(ARHGAP31):c.3659G>A (p.Ser1220Asn)
|
|
|
NM_020754.4(ARHGAP31):c.4088C>T (p.Ser1363Leu)
|
|
|
NM_020754.4(ARHGAP31):c.4222A>T (p.Lys1408Ter)
|
|
|
NM_020774.4(MIB1):c.229+7C>G
|
|
|
NM_020778.5(ALPK3):c.3464C>T (p.Thr1155Ile)
|
|
|
NM_020778.5(ALPK3):c.423-19del
|
rs537375112
|
|
NM_020778.5(ALPK3):c.4501A>G (p.Ile1501Val)
|
|
|
NM_020821.3(VPS13C):c.1009C>G (p.Gln337Glu)
|
|
|
NM_020821.3(VPS13C):c.3709T>G (p.Phe1237Val)
|
|
|
NM_020821.3(VPS13C):c.5653A>C (p.Asn1885His)
|
rs757119917
|
|
NM_020822.3(KCNT1):c.3679C>G (p.Pro1227Ala)
|
|
|
NM_020822.3(KCNT1):c.86T>G (p.Phe29Cys)
|
|
|
NM_020922.5(WNK3):c.3665A>C (p.Asp1222Ala)
|
|
|
NM_020928.2(ZSWIM6):c.214C>G (p.Gln72Glu)
|
|
|
NM_020928.2(ZSWIM6):c.26C>T (p.Pro9Leu)
|
|
|
NM_020928.2(ZSWIM6):c.677-4C>G
|
|
|
NM_020949.3(SLC7A14):c.1168G>C (p.Val390Leu)
|
rs142416793
|
|
NM_020971.3(SPTBN4):c.4144C>T (p.Arg1382Trp)
|
|
|
NM_020971.3(SPTBN4):c.5290-16C>A
|
|
|
NM_020971.3(SPTBN4):c.6017G>A (p.Arg2006Gln)
|
|
|
NM_020975.6(RET):c.*6C>G
|
|
|
NM_020975.6(RET):c.1196C>T (p.Pro399Leu)
|
rs1554818362
|
|
NM_020975.6(RET):c.1893C>A (p.Asp631Glu)
|
rs55846256
|
|
NM_020975.6(RET):c.2198G>A (p.Gly733Asp)
|
rs1564497340
|
|
NM_020975.6(RET):c.2711C>G (p.Ser904Cys)
|
rs267607011
|
|
NM_020975.6(RET):c.792C>G (p.Asp264Glu)
|
rs1564491360
|
|
NM_020987.5(ANK3):c.10783A>G (p.Thr3595Ala)
|
rs748256287
|
|
NM_020988.3(GNAO1):c.594-15C>A
|
rs747946596
|
|
NM_021008.4(DEAF1):c.1210G>T (p.Ala404Ser)
|
|
|
NM_021008.4(DEAF1):c.527C>A (p.Ser176Tyr)
|
|
|
NM_021008.4(DEAF1):c.73G>A (p.Val25Met)
|
|
|
NM_021023.6(CFHR3):c.106G>T (p.Glu36Ter)
|
|
|
NM_021023.6(CFHR3):c.356G>C (p.Gly119Ala)
|
|
|
NM_021023.6(CFHR3):c.796+1G>A
|
|
|
NM_021023.6(CFHR3):c.839_840del (p.Ile280fs)
|
rs781400776
|
|
NM_021023.6(CFHR3):c.841_842del (p.Lys281fs)
|
|
|
NM_021076.4(NEFH):c.1379A>G (p.Gln460Arg)
|
|
|
NM_021076.4(NEFH):c.1462G>C (p.Gly488Arg)
|
|
|
NM_021076.4(NEFH):c.459G>T (p.Met153Ile)
|
|
|
NM_021098.3(CACNA1H):c.1516C>G (p.Arg506Gly)
|
rs58593315
|
|
NM_021098.3(CACNA1H):c.1918C>G (p.Pro640Ala)
|
|
|
NM_021098.3(CACNA1H):c.280C>G (p.Leu94Val)
|
|
|
NM_021098.3(CACNA1H):c.3466C>T (p.Arg1156Cys)
|
|
|
NM_021098.3(CACNA1H):c.3920A>G (p.Asn1307Ser)
|
rs767633946
|
|
NM_021098.3(CACNA1H):c.5206C>T (p.Arg1736Cys)
|
rs750143885
|
|
NM_021098.3(CACNA1H):c.770G>A (p.Arg257Gln)
|
|
|
NM_021116.4(ADCY1):c.1234C>A (p.Arg412Ser)
|
|
|
NM_021120.4(DLG3):c.351T>C (p.Tyr117=)
|
|
|
NM_021120.4(DLG3):c.82C>A (p.Pro28Thr)
|
|
|
NM_021120.4(DLG3):c.992C>T (p.Thr331Ile)
|
|
|
NM_021224.6(ZNF462):c.2496_2498dup (p.Glu832_Asn833insLys)
|
|
|
NM_021224.6(ZNF462):c.3798A>T (p.Lys1266Asn)
|
|
|
NM_021224.6(ZNF462):c.3803G>A (p.Arg1268Lys)
|
|
|
NM_021224.6(ZNF462):c.3859G>A (p.Asp1287Asn)
|
|
|
NM_021224.6(ZNF462):c.4733G>A (p.Arg1578Gln)
|
|
|
NM_021224.6(ZNF462):c.5313G>C (p.Leu1771Phe)
|
rs2131512078
|
|
NM_021224.6(ZNF462):c.6536CTG[2] (p.Ala2181del)
|
|
|
NM_021615.5(CHST6):c.1001G>A (p.Arg334His)
|
|
|
NM_021615.5(CHST6):c.175C>T (p.Leu59Phe)
|
|
|
NM_021615.5(CHST6):c.455T>C (p.Leu152Pro)
|
|
|
NM_021615.5(CHST6):c.815G>A (p.Arg272His)
|
|
|
NM_021628.3(ALOXE3):c.1559_1562+3dup
|
rs552323537
|
|
NM_021814.5(ELOVL5):c.889_890dup (p.Lys298fs)
|
|
|
NM_021815.5(SLC5A7):c.1726G>T (p.Glu576Ter)
|
|
|
NM_021830.5(TWNK):c.1954C>T (p.Pro652Ser)
|
rs267602340
|
|
NM_021830.5(TWNK):c.2005G>C (p.Gly669Arg)
|
|
|
NM_021830.5(TWNK):c.2044C>T (p.Arg682Cys)
|
|
|
NM_021830.5(TWNK):c.209C>T (p.Pro70Leu)
|
|
|
NM_021830.5(TWNK):c.581G>A (p.Ser194Asn)
|
|
|
NM_021831.6(AGBL5):c.439C>T (p.Arg147Cys)
|
rs144135243
|
|
NM_021870.3(FGG):c.1015A>G (p.Ser339Gly)
|
|
|
NM_021870.3(FGG):c.1130G>T (p.Gly377Val)
|
|
|
NM_021870.3(FGG):c.922G>A (p.Ala308Thr)
|
|
|
NM_021871.4(FGA):c.341G>A (p.Arg114Lys)
|
|
|
NM_021871.4(FGA):c.434T>A (p.Val145Asp)
|
|
|
NM_021871.4(FGA):c.908G>A (p.Gly303Glu)
|
|
|
NM_021913.5(AXL):c.995-6C>T
|
|
|
NM_021922.3(FANCE):c.71_72insGGG (p.Ala24_Pro25insGly)
|
rs2150885556
|
|
NM_021922.3(FANCE):c.86T>A (p.Leu29Gln)
|
rs2150885592
|
|
NM_021926.4(ALX4):c.154G>A (p.Ala52Thr)
|
|
|
NM_021927.3(GUF1):c.1351_1352del (p.Glu451fs)
|
rs749030301
|
|
NM_021927.3(GUF1):c.1390_1394del (p.Lys465fs)
|
rs770488789
|
|
NM_021927.3(GUF1):c.1527_1528insTATCATAATTGATCAAAATAGA (p.Val510delinsTyrHisAsnTer)
|
rs773410288
|
|
NM_021927.3(GUF1):c.682_703delinsTCTAAA (p.Leu228fs)
|
|
|
NM_021927.3(GUF1):c.922C>T (p.Gln308Ter)
|
|
|
NM_021939.4(FKBP10):c.1244A>C (p.Gln415Pro)
|
rs2144064339
|
|
NM_021942.6(TRAPPC11):c.185A>T (p.Tyr62Phe)
|
rs2111290486
|
|
NM_021942.6(TRAPPC11):c.2125_2126insGAC (p.Asp709delinsGlyHis)
|
|
|
NM_021942.6(TRAPPC11):c.2825A>G (p.Asp942Gly)
|
rs202094535
|
|
NM_021942.6(TRAPPC11):c.439C>T (p.Pro147Ser)
|
rs1219699834
|
|
NM_021964.3(ZNF148):c.997T>G (p.Leu333Val)
|
|
|
NM_021999.5(ITM2B):c.238G>A (p.Ala80Thr)
|
|
|
NM_022081.6(HPS4):c.1330G>A (p.Glu444Lys)
|
|
|
NM_022081.6(HPS4):c.571G>A (p.Ala191Thr)
|
|
|
NM_022081.6(HPS4):c.706+176G>A
|
|
|
NM_022081.6(HPS4):c.851A>G (p.His284Arg)
|
|
|
NM_022089.4(ATP13A2):c.*207C>T
|
|
|
NM_022089.4(ATP13A2):c.3503_3516dup (p.Pro1173fs)
|
rs779637529
|
|
NM_022089.4(ATP13A2):c.3535_3536del (p.Leu1179fs)
|
|
|
NM_022089.4(ATP13A2):c.3543G>T (p.Ter1181Tyr)
|
|
|
NM_022124.6(CDH23):c.1439T>A (p.Leu480Gln)
|
rs767928788
|
|
NM_022124.6(CDH23):c.1888G>C (p.Glu630Gln)
|
rs2132682527
|
|
NM_022124.6(CDH23):c.334G>C (p.Gly112Arg)
|
|
|
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu)
|
rs767004225
|
|
NM_022124.6(CDH23):c.4364T>G (p.Val1455Gly)
|
rs2132844035
|
|
NM_022124.6(CDH23):c.437C>T (p.Pro146Leu)
|
rs765103490
|
|
NM_022124.6(CDH23):c.4747G>A (p.Gly1583Ser)
|
rs775013186
|
|
NM_022124.6(CDH23):c.4829G>T (p.Gly1610Val)
|
rs1839745979
|
|
NM_022124.6(CDH23):c.4845G>A (p.Ser1615=)
|
rs542618168
|
|
NM_022124.6(CDH23):c.5237_5238delinsAT (p.Arg1746His)
|
|
|
NM_022124.6(CDH23):c.5247G>T (p.Glu1749Asp)
|
|
|
NM_022124.6(CDH23):c.5563C>T (p.Pro1855Ser)
|
|
|
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro)
|
rs762118583
|
|
NM_022124.6(CDH23):c.6656A>T (p.Asp2219Val)
|
|
|
NM_022124.6(CDH23):c.7001C>T (p.Thr2334Ile)
|
rs1841467615
|
|
NM_022124.6(CDH23):c.739G>A (p.Glu247Lys)
|
|
|
NM_022124.6(CDH23):c.8177C>T (p.Pro2726Leu)
|
|
|
NM_022124.6(CDH23):c.8891T>C (p.Ile2964Thr)
|
|
|
NM_022124.6(CDH23):c.9128G>C (p.Arg3043Pro)
|
|
|
NM_022124.6(CDH23):c.9199-4G>A
|
rs369900526
|
|
NM_022124.6(CDH23):c.9721del (p.His3241fs)
|
rs1842006730
|
|
NM_022124.6(CDH23):c.9726del (p.Ser3243fs)
|
rs767176528
|
|
NM_022132.5(MCCC2):c.1052A>G (p.Tyr351Cys)
|
|
|
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
|
|
|
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr)
|
rs1554134065
|
|
NM_022132.5(MCCC2):c.518C>G (p.Ser173Trp)
|
rs752866557
|
|
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal)
|
rs797044772
|
|
NM_022132.5(MCCC2):c.659G>A (p.Gly220Glu)
|
|
|
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly)
|
rs757389984
|
|
NM_022168.4(IFIH1):c.1988T>G (p.Leu663Ter)
|
rs2105197464
|
|
NM_022168.4(IFIH1):c.2140A>G (p.Arg714Gly)
|
|
|
NM_022168.4(IFIH1):c.2485A>C (p.Thr829Pro)
|
|
|
NM_022168.4(IFIH1):c.2641A>G (p.Ile881Val)
|
rs1169761887
|
|
NM_022356.4(P3H1):c.1080+3G>C
|
|
|
NM_022356.4(P3H1):c.1170G>A (p.Pro390=)
|
|
|
NM_022356.4(P3H1):c.1345G>A (p.Gly449Ser)
|
|
|
NM_022356.4(P3H1):c.808+5G>A
|
rs368972030
|
|
NM_022369.4(STRA6):c.1037A>C (p.Glu346Ala)
|
|
|
NM_022436.3(ABCG5):c.1356G>C (p.Glu452Asp)
|
|
|
NM_022436.3(ABCG5):c.139G>A (p.Val47Ile)
|
rs72542426
|
|
NM_022436.3(ABCG5):c.143+15T>G
|
|
|
NM_022436.3(ABCG5):c.1670T>C (p.Ile557Thr)
|
|
|
NM_022436.3(ABCG5):c.185A>G (p.Gln62Arg)
|
|
|
NM_022436.3(ABCG5):c.1910T>C (p.Leu637Pro)
|
|
|
NM_022436.3(ABCG5):c.343G>A (p.Val115Met)
|
|
|
NM_022436.3(ABCG5):c.397C>G (p.Leu133Val)
|
|
|
NM_022436.3(ABCG5):c.39G>C (p.Met13Ile)
|
|
|
NM_022436.3(ABCG5):c.436G>C (p.Glu146Gln)
|
|
|
NM_022436.3(ABCG5):c.501+5G>A
|
|
|
NM_022436.3(ABCG5):c.619C>G (p.Leu207Val)
|
|
|
NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr)
|
rs770103215
|
|
NM_022436.3(ABCG5):c.905-3dup
|
rs142037828
|
|
NM_022437.3(ABCG8):c.1061G>A (p.Arg354His)
|
rs142346631
|
|
NM_022437.3(ABCG8):c.1114A>T (p.Thr372Ser)
|
|
|
NM_022437.3(ABCG8):c.1128-4C>T
|
|
|
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val)
|
rs147194762
|
|
NM_022437.3(ABCG8):c.1313A>G (p.His438Arg)
|
|
|
NM_022437.3(ABCG8):c.1412-9_1412-8delinsTT
|
|
|
NM_022437.3(ABCG8):c.1488+14G>T
|
|
|
NM_022437.3(ABCG8):c.165+16G>T
|
|
|
NM_022437.3(ABCG8):c.1756+16G>A
|
|
|
NM_022437.3(ABCG8):c.1757-15G>A
|
|
|
NM_022437.3(ABCG8):c.1877G>T (p.Gly626Val)
|
|
|
NM_022437.3(ABCG8):c.255G>T (p.Glu85Asp)
|
|
|
NM_022437.3(ABCG8):c.561+18G>T
|
|
|
NM_022437.3(ABCG8):c.561+5C>G
|
|
|
NM_022437.3(ABCG8):c.562-8G>A
|
|
|
NM_022437.3(ABCG8):c.635G>A (p.Gly212Glu)
|
|
|
NM_022437.3(ABCG8):c.694+16G>A
|
|
|
NM_022437.3(ABCG8):c.866G>A (p.Gly289Asp)
|
rs769842021
|
|
NM_022455.5(NSD1):c.2683A>C (p.Ser895Arg)
|
|
|
NM_022455.5(NSD1):c.2947G>A (p.Gly983Ser)
|
rs373280032
|
|
NM_022455.5(NSD1):c.6502G>A (p.Gly2168Arg)
|
|
|
NM_022455.5(NSD1):c.6625G>C (p.Gly2209Arg)
|
|
|
NM_022455.5(NSD1):c.6845C>T (p.Pro2282Leu)
|
|
|
NM_022455.5(NSD1):c.6899C>G (p.Ala2300Gly)
|
|
|
NM_022455.5(NSD1):c.7870C>A (p.Pro2624Thr)
|
rs1286859534
|
|
NM_022463.5(NXN):c.803G>A (p.Arg268Gln)
|
|
|
NM_022464.5(SIL1):c.913C>T (p.Arg305Trp)
|
|
|
NM_022489.4(INF2):c.2240-16C>T
|
|
|
NM_022489.4(INF2):c.2489G>C (p.Gly830Ala)
|
rs377340315
|
|
NM_022489.4(INF2):c.3698T>C (p.Val1233Ala)
|
|
|
NM_022489.4(INF2):c.565G>A (p.Asp189Asn)
|
rs753287786
|
|
NM_022575.4(VPS16):c.737G>A (p.Gly246Glu)
|
|
|
NM_022575.4(VPS16):c.775T>C (p.Cys259Arg)
|
|
|
NM_022725.4(FANCF):c.-7G>T
|
|
|
NM_022725.4(FANCF):c.654_655del (p.Gln219fs)
|
|
|
NM_022765.4(MICAL1):c.2305-3C>T
|
|
|
NM_022770.4(GINS3):c.287G>C (p.Trp96Ser)
|
rs1334583313
|
|
NM_022772.4(EPS8L2):c.1342-19T>C
|
|
|
NM_022834.5(VWA1):c.1275GCGCCC[3] (p.Pro431_Val432insArgPro)
|
|
|
NM_022835.3(PLEKHG2):c.1899del (p.Ile635fs)
|
|
|
NM_022835.3(PLEKHG2):c.2571_2572del (p.Cys858fs)
|
|
|
NM_022835.3(PLEKHG2):c.3326C>T (p.Thr1109Ile)
|
|
|
NM_022835.3(PLEKHG2):c.3329C>A (p.Ser1110Ter)
|
|
|
NM_022835.3(PLEKHG2):c.4085C>T (p.Ala1362Val)
|
|
|
NM_022835.3(PLEKHG2):c.929C>T (p.Ala310Val)
|
|
|
NM_022841.7(RFX7):c.2098C>T (p.Pro700Ser)
|
|
|
NM_022841.7(RFX7):c.2176A>G (p.Ile726Val)
|
|
|
NM_022841.7(RFX7):c.35A>G (p.Gln12Arg)
|
|
|
NM_022893.4(BCL11A):c.-13C>T
|
rs1318872521
|
|
NM_022893.4(BCL11A):c.1533G>A (p.Val511=)
|
|
|
NM_022893.4(BCL11A):c.1595C>G (p.Ala532Gly)
|
|
|
NM_022893.4(BCL11A):c.488-1G>A
|
|
|
NM_022915.5(MRPL44):c.786del (p.Gly263fs)
|
|
|
NM_023110.3(FGFR1):c.-88-3566dup
|
rs1424371425
|
|
NM_023110.3(FGFR1):c.1328T>C (p.Leu443Pro)
|
|
|
NM_023110.3(FGFR1):c.1552T>G (p.Ser518Ala)
|
|
|
NM_023110.3(FGFR1):c.2051G>C (p.Trp684Ser)
|
|
|
NM_023110.3(FGFR1):c.2393A>G (p.His798Arg)
|
|
|
NM_023110.3(FGFR1):c.421A>G (p.Thr141Ala)
|
rs1315551279
|
|
NM_024009.3(GJB3):c.196_198del (p.Asp66del)
|
rs786200895
|
|
NM_024120.5(NDUFAF5):c.145C>G (p.Arg49Gly)
|
rs377078447
|
|
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln)
|
rs1040187200
|
|
NM_024120.5(NDUFAF5):c.827G>A (p.Arg276Gln)
|
|
|
NM_024120.5(NDUFAF5):c.965G>C (p.Gly322Ala)
|
|
|
NM_024301.5(FKRP):c.155T>A (p.Leu52Gln)
|
rs2054892463
|
|
NM_024301.5(FKRP):c.280C>T (p.Pro94Ser)
|
|
|
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp)
|
rs2054912295
|
|
NM_024312.5(GNPTAB):c.1144A>G (p.Thr382Ala)
|
|
|
NM_024312.5(GNPTAB):c.1847C>T (p.Thr616Met)
|
|
|
NM_024312.5(GNPTAB):c.202C>T (p.Arg68Trp)
|
rs531738916
|
|
NM_024312.5(GNPTAB):c.229G>C (p.Val77Leu)
|
rs985184620
|
|
NM_024312.5(GNPTAB):c.229GTT[1] (p.Val78del)
|
rs281864952
|
|
NM_024312.5(GNPTAB):c.571+6A>G
|
|
|
NM_024334.3(TMEM43):c.1019T>G (p.Phe340Cys)
|
rs1559363663
|
|
NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val)
|
rs193922706
|
|
NM_024334.3(TMEM43):c.1150C>T (p.Leu384Phe)
|
rs193922706
|
|
NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg)
|
rs199943048
|
|
NM_024334.3(TMEM43):c.442+19dup
|
rs768508021
|
|
NM_024334.3(TMEM43):c.64C>T (p.Gln22Ter)
|
rs1695063853
|
|
NM_024334.3(TMEM43):c.743T>G (p.Leu248Arg)
|
rs774356401
|
|
NM_024334.3(TMEM43):c.862C>T (p.His288Tyr)
|
rs771028028
|
|
NM_024334.3(TMEM43):c.883-15C>G
|
|
|
NM_024407.5(NDUFS7):c.125C>G (p.Thr42Ser)
|
|
|
NM_024408.4(NOTCH2):c.1109-14C>T
|
|
|
NM_024408.4(NOTCH2):c.2677G>A (p.Gly893Ser)
|
rs782108690
|
|
NM_024408.4(NOTCH2):c.3011A>G (p.Asp1004Gly)
|
|
|
NM_024408.4(NOTCH2):c.4202A>G (p.Gln1401Arg)
|
rs2101162597
|
|
NM_024408.4(NOTCH2):c.4273T>C (p.Cys1425Arg)
|
|
|
NM_024408.4(NOTCH2):c.5705A>G (p.Asp1902Gly)
|
|
|
NM_024408.4(NOTCH2):c.7046C>T (p.Pro2349Leu)
|
|
|
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly)
|
rs794728075
|
|
NM_024422.6(DSC2):c.1238A>T (p.Asn413Ile)
|
|
|
NM_024422.6(DSC2):c.1324C>T (p.Pro442Ser)
|
rs201480399
|
|
NM_024422.6(DSC2):c.1436G>A (p.Arg479His)
|
rs774641579
|
|
NM_024422.6(DSC2):c.1436G>C (p.Arg479Pro)
|
rs774641579
|
|
NM_024422.6(DSC2):c.1521G>A (p.Arg507=)
|
|
|
NM_024422.6(DSC2):c.1593A>C (p.Arg531Ser)
|
rs762973455
|
|
NM_024422.6(DSC2):c.1694T>G (p.Ile565Ser)
|
rs1986963426
|
|
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser)
|
rs869025387
|
|
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys)
|
rs759513934
|
|
NM_024422.6(DSC2):c.2412C>A (p.His804Gln)
|
rs1986728077
|
|
NM_024422.6(DSC2):c.354+15A>C
|
rs1303672773
|
|
NM_024422.6(DSC2):c.443C>G (p.Ser148Cys)
|
|
|
NM_024422.6(DSC2):c.70-18dup
|
rs572309510
|
|
NM_024496.4(IRF2BPL):c.1010G>A (p.Ser337Asn)
|
rs1214159684
|
|
NM_024496.4(IRF2BPL):c.923C>T (p.Thr308Met)
|
|
|
NM_024513.4(FYCO1):c.3347G>A (p.Arg1116His)
|
|
|
NM_024528.4(NKAP):c.143C>T (p.Ser48Phe)
|
|
|
NM_024537.4(CARS2):c.1A>G (p.Met1Val)
|
rs1456556476
|
|
NM_024570.4(RNASEH2B):c.263C>G (p.Ala88Gly)
|
|
|
NM_024570.4(RNASEH2B):c.28G>C (p.Gly10Arg)
|
|
|
NM_024570.4(RNASEH2B):c.816_817del (p.Glu273fs)
|
|
|
NM_024575.5(TNFAIP8L2):c.480T>A (p.Tyr160Ter)
|
|
|
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val)
|
rs139653980
|
|
NM_024577.4(SH3TC2):c.151G>A (p.Asp51Asn)
|
|
|
NM_024577.4(SH3TC2):c.287C>T (p.Ser96Leu)
|
rs2127401458
|
|
NM_024577.4(SH3TC2):c.3379C>T (p.Arg1127Trp)
|
rs1580888993
|
|
NM_024596.5(MCPH1):c.1136G>T (p.Arg379Ile)
|
|
|
NM_024596.5(MCPH1):c.2422G>A (p.Val808Ile)
|
|
|
NM_024596.5(MCPH1):c.670+5A>C
|
|
|
NM_024637.5(GAL3ST4):c.97C>T (p.Gln33Ter)
|
rs1799085397
|
|
NM_024649.5(BBS1):c.1385G>A (p.Arg462His)
|
|
|
NM_024649.5(BBS1):c.47+8C>T
|
|
|
NM_024675.4(PALB2):c.101G>A (p.Arg34His)
|
rs144944814
|
|
NM_024675.4(PALB2):c.1121T>C (p.Ile374Thr)
|
rs1567221558
|
|
NM_024675.4(PALB2):c.1189A>G (p.Thr397Ala)
|
rs367578415
|
|
NM_024675.4(PALB2):c.1292G>A (p.Ser431Asn)
|
rs1555461357
|
|
NM_024675.4(PALB2):c.132T>G (p.Ile44Met)
|
rs756856792
|
|
NM_024675.4(PALB2):c.1340C>T (p.Ala447Val)
|
rs1555461334
|
|
NM_024675.4(PALB2):c.1433C>T (p.Ser478Phe)
|
rs786203879
|
|
NM_024675.4(PALB2):c.1457A>T (p.Lys486Ile)
|
rs864622291
|
|
NM_024675.4(PALB2):c.1669T>C (p.Phe557Leu)
|
rs1326785676
|
|
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp)
|
rs587782151
|
|
NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala)
|
rs876659058
|
|
NM_024675.4(PALB2):c.1940A>T (p.His647Leu)
|
rs1055533509
|
|
NM_024675.4(PALB2):c.1982C>G (p.Pro661Arg)
|
rs71379822
|
|
NM_024675.4(PALB2):c.1988G>A (p.Arg663His)
|
rs1462734899
|
|
NM_024675.4(PALB2):c.2053A>G (p.Lys685Glu)
|
rs876660397
|
|
NM_024675.4(PALB2):c.205C>T (p.His69Tyr)
|
rs879253891
|
|
NM_024675.4(PALB2):c.2065T>G (p.Ser689Ala)
|
rs2142382088
|
|
NM_024675.4(PALB2):c.2147A>G (p.Asn716Ser)
|
rs148335539
|
|
NM_024675.4(PALB2):c.2188A>G (p.Ile730Val)
|
rs1060502735
|
|
NM_024675.4(PALB2):c.2230G>A (p.Glu744Lys)
|
rs62625278
|
|
NM_024675.4(PALB2):c.2461A>T (p.Asn821Tyr)
|
rs958566673
|
|
NM_024675.4(PALB2):c.2482T>C (p.Cys828Arg)
|
rs876660545
|
|
NM_024675.4(PALB2):c.2494C>T (p.His832Tyr)
|
rs901786175
|
|
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile)
|
rs536644825
|
|
NM_024675.4(PALB2):c.2514+5A>G
|
rs1966855329
|
|
NM_024675.4(PALB2):c.2515-3C>G
|
rs957106428
|
|
NM_024675.4(PALB2):c.2515-6T>C
|
rs1597088273
|
|
NM_024675.4(PALB2):c.25C>T (p.Leu9Phe)
|
rs1060502744
|
|
NM_024675.4(PALB2):c.2615T>C (p.Val872Ala)
|
rs730881877
|
|
NM_024675.4(PALB2):c.2749-5T>C
|
rs1966828330
|
|
NM_024675.4(PALB2):c.2792T>C (p.Leu931Pro)
|
rs773831304
|
|
NM_024675.4(PALB2):c.2966_2968del (p.Val989del)
|
rs1555459526
|
|
NM_024675.4(PALB2):c.29G>T (p.Ser10Ile)
|
rs876659643
|
|
NM_024675.4(PALB2):c.3041T>C (p.Leu1014Pro)
|
rs876659554
|
|
NM_024675.4(PALB2):c.3066G>A (p.Met1022Ile)
|
rs1220966608
|
|
NM_024675.4(PALB2):c.3107T>C (p.Val1036Ala)
|
rs1555459357
|
|
NM_024675.4(PALB2):c.3202-8G>A
|
rs367979106
|
|
NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg)
|
rs515726112
|
|
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu)
|
rs201657283
|
|
NM_024675.4(PALB2):c.3328C>G (p.Leu1110Val)
|
rs878855117
|
|
NM_024675.4(PALB2):c.3350+9G>C
|
rs1966504683
|
|
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)
|
rs876659859
|
|
NM_024675.4(PALB2):c.337C>G (p.Pro113Ala)
|
rs1352495486
|
|
NM_024675.4(PALB2):c.3436C>A (p.Gln1146Lys)
|
rs879254033
|
|
NM_024675.4(PALB2):c.34GAG[1] (p.Glu13del)
|
rs745444171
|
|
NM_024675.4(PALB2):c.3553T>G (p.Tyr1185Asp)
|
rs878855120
|
|
NM_024675.4(PALB2):c.37G>C (p.Glu13Gln)
|
rs373287455
|
|
NM_024675.4(PALB2):c.398G>A (p.Ser133Asn)
|
rs864622411
|
|
NM_024675.4(PALB2):c.476A>G (p.Glu159Gly)
|
rs1555461786
|
|
NM_024675.4(PALB2):c.508A>G (p.Arg170Gly)
|
rs864622622
|
|
NM_024675.4(PALB2):c.603T>A (p.Ser201Arg)
|
rs769647912
|
|
NM_024675.4(PALB2):c.631G>C (p.Glu211Gln)
|
|
|
NM_024675.4(PALB2):c.637G>C (p.Val213Leu)
|
rs786203875
|
|
NM_024675.4(PALB2):c.679G>A (p.Ala227Thr)
|
rs1555461678
|
|
NM_024675.4(PALB2):c.700G>A (p.Asp234Asn)
|
rs868149939
|
|
NM_024675.4(PALB2):c.737C>T (p.Thr246Ile)
|
rs1597098443
|
|
NM_024675.4(PALB2):c.74A>G (p.Lys25Arg)
|
rs1967111893
|
|
NM_024675.4(PALB2):c.755C>T (p.Thr252Ile)
|
rs1967023769
|
|
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His)
|
rs587778582
|
|
NM_024675.4(PALB2):c.871G>A (p.Ala291Thr)
|
rs878855124
|
|
NM_024675.4(PALB2):c.983C>G (p.Ser328Cys)
|
|
|
NM_024675.4(PALB2):c.9G>T (p.Glu3Asp)
|
rs786202325
|
|
NM_024685.4(BBS10):c.1126C>G (p.Leu376Val)
|
rs11109474
|
|
NM_024685.4(BBS10):c.1457A>T (p.Tyr486Phe)
|
rs1429011304
|
|
NM_024747.6(HPS6):c.2229_2230del (p.Ala745fs)
|
|
|
NM_024747.6(HPS6):c.815C>T (p.Thr272Ile)
|
rs281865109
|
|
NM_024747.6(HPS6):c.938G>T (p.Gly313Val)
|
|
|
NM_024757.5(EHMT1):c.1015G>C (p.Val339Leu)
|
|
|
NM_024757.5(EHMT1):c.1099G>C (p.Ala367Pro)
|
|
|
NM_024757.5(EHMT1):c.13G>A (p.Asp5Asn)
|
rs1050977100
|
|
NM_024757.5(EHMT1):c.190A>T (p.Ser64Cys)
|
|
|
NM_024757.5(EHMT1):c.3082G>T (p.Ala1028Ser)
|
|
|
NM_024757.5(EHMT1):c.339C>G (p.Asp113Glu)
|
rs1455743308
|
|
NM_024757.5(EHMT1):c.3797C>G (p.Ser1266Trp)
|
|
|
NM_024782.3(NHEJ1):c.860C>A (p.Ser287Ter)
|
|
|
NM_024795.4(TM4SF20):c.322del (p.Ala108fs)
|
|
|
NM_024809.5(TCTN2):c.2053del (p.Leu685fs)
|
|
|
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys)
|
rs201827132
|
|
NM_024824.5(ZC3H14):c.1571del (p.Gly524fs)
|
|
|
NM_024915.4(GRHL2):c.-4A>T
|
|
|
NM_024996.7(GFM1):c.1199G>C (p.Arg400Pro)
|
rs139692119
|
|
NM_024996.7(GFM1):c.961T>C (p.Ser321Pro)
|
|
|
NM_025074.7(FRAS1):c.10648+4A>G
|
|
|
NM_025074.7(FRAS1):c.10906A>C (p.Thr3636Pro)
|
rs1399050730
|
|
NM_025074.7(FRAS1):c.10961G>T (p.Arg3654Leu)
|
rs765433709
|
|
NM_025074.7(FRAS1):c.1099C>T (p.Arg367Cys)
|
|
|
NM_025074.7(FRAS1):c.11901_11904dup (p.His3969Ter)
|
rs2109911879
|
|
NM_025074.7(FRAS1):c.1214C>A (p.Ala405Asp)
|
rs1727402639
|
|
NM_025074.7(FRAS1):c.1286C>G (p.Ser429Cys)
|
|
|
NM_025074.7(FRAS1):c.603+4A>T
|
|
|
NM_025074.7(FRAS1):c.8966A>T (p.Asn2989Ile)
|
rs1267920613
|
|
NM_025077.4(TOE1):c.-44T>G
|
rs201746729
|
|
NM_025083.5(EDC3):c.818C>T (p.Thr273Met)
|
|
|
NM_025099.6(CTC1):c.2066A>G (p.Tyr689Cys)
|
|
|
NM_025099.6(CTC1):c.2164C>T (p.Pro722Ser)
|
rs770505786
|
|
NM_025099.6(CTC1):c.833G>T (p.Gly278Val)
|
rs768853291
|
|
NM_025114.4(CEP290):c.2009G>A (p.Gly670Glu)
|
rs2038917373
|
|
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)
|
rs779010679
|
|
NM_025114.4(CEP290):c.2861A>C (p.Asp954Ala)
|
rs886049882
|
|
NM_025114.4(CEP290):c.3119T>C (p.Met1040Thr)
|
rs2137369505
|
|
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His)
|
rs371157150
|
|
NM_025114.4(CEP290):c.4716A>C (p.Glu1572Asp)
|
rs780960290
|
|
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys)
|
rs760856790
|
|
NM_025114.4(CEP290):c.5226+6T>G
|
|
|
NM_025114.4(CEP290):c.593G>T (p.Arg198Ile)
|
|
|
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)
|
rs569673313
|
|
NM_025137.4(SPG11):c.1609A>T (p.Ile537Leu)
|
rs2084149306
|
|
NM_025137.4(SPG11):c.2114A>G (p.Gln705Arg)
|
rs2141038104
|
|
NM_025137.4(SPG11):c.6756G>A (p.Glu2252=)
|
|
|
NM_025137.4(SPG11):c.6884_6886del (p.Thr2295del)
|
rs1060501169
|
|
NM_025137.4(SPG11):c.7249G>T (p.Glu2417Ter)
|
rs371313584
|
|
NM_025144.4(ALPK1):c.2704A>C (p.Ser902Arg)
|
|
|
NM_025144.4(ALPK1):c.3538+15G>A
|
|
|
NM_025207.5(FLAD1):c.1711C>T (p.Arg571Cys)
|
|
|
NM_025215.6(PUS1):c.1270G>A (p.Gly424Arg)
|
|
|
NM_025215.6(PUS1):c.884G>A (p.Arg295Gln)
|
|
|
NM_025216.3(WNT10A):c.499G>C (p.Glu167Gln)
|
|
|
NM_025243.4(SLC19A3):c.414A>T (p.Arg138Ser)
|
|
|
NM_025257.3(SLC44A4):c.242+14C>T
|
|
|
NM_025257.3(SLC44A4):c.700G>T (p.Val234Phe)
|
|
|
NM_025265.4(TSEN2):c.1136+4C>T
|
|
|
NM_025265.4(TSEN2):c.1311_1317delinsTTTA (p.Glu438_Cys439delinsLeu)
|
|
|
NM_025265.4(TSEN2):c.1338+1G>A
|
|
|
NM_030578.4(B9D2):c.359G>A (p.Arg120Gln)
|
rs374581827
|
|
NM_030624.3(KLHL15):c.970A>G (p.Ile324Val)
|
|
|
NM_030632.3(ASXL3):c.2044C>T (p.Pro682Ser)
|
|
|
NM_030632.3(ASXL3):c.2542T>A (p.Tyr848Asn)
|
|
|
NM_030632.3(ASXL3):c.3224C>T (p.Ala1075Val)
|
|
|
NM_030632.3(ASXL3):c.5252C>G (p.Thr1751Arg)
|
rs753874423
|
|
NM_030653.4(DDX11):c.2372G>A (p.Arg791Gln)
|
|
|
NM_030662.4(MAP2K2):c.-16G>A
|
|
|
NM_030662.4(MAP2K2):c.1047-6C>A
|
rs774258077
|
|
NM_030662.4(MAP2K2):c.159del (p.Leu54fs)
|
rs777549760
|
|
NM_030662.4(MAP2K2):c.208G>A (p.Asp70Asn)
|
|
|
NM_030662.4(MAP2K2):c.291C>G (p.Ile97Met)
|
rs200918323
|
|
NM_030662.4(MAP2K2):c.352G>A (p.Glu118Lys)
|
rs756646033
|
|
NM_030662.4(MAP2K2):c.705+15G>A
|
rs1187456546
|
|
NM_030662.4(MAP2K2):c.919+10_919+12delinsAAG
|
rs1064794489
|
|
NM_030662.4(MAP2K2):c.919+5G>A
|
rs540315377
|
|
NM_030662.4(MAP2K2):c.985-19C>A
|
rs987549297
|
|
NM_030662.4(MAP2K2):c.985-7_985-5del
|
rs753469223
|
|
NM_030665.4(RAI1):c.2602GAG[2] (p.Glu870del)
|
|
|
NM_030665.4(RAI1):c.3701C>T (p.Thr1234Ile)
|
|
|
NM_030665.4(RAI1):c.4853G>A (p.Gly1618Glu)
|
|
|
NM_030773.4(TUBB1):c.1163T>C (p.Met388Thr)
|
|
|
NM_030773.4(TUBB1):c.166+14G>C
|
|
|
NM_030777.4(SLC2A10):c.1181C>G (p.Ala394Gly)
|
|
|
NM_030777.4(SLC2A10):c.1466G>A (p.Gly489Asp)
|
|
|
NM_030777.4(SLC2A10):c.1529A>G (p.Gln510Arg)
|
|
|
NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr)
|
rs6094438
|
|
NM_030777.4(SLC2A10):c.371C>T (p.Ser124Leu)
|
rs774076515
|
|
NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu)
|
rs540023880
|
|
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)
|
rs565457964
|
|
NM_030787.4(CFHR5):c.626G>A (p.Gly209Asp)
|
|
|
NM_030805.4(LMAN2L):c.373_374del (p.Leu125fs)
|
rs2153336229
|
|
NM_031206.7(LAS1L):c.178T>A (p.Cys60Ser)
|
|
|
NM_031372.4(HNRNPDL):c.166C>T (p.Arg56Trp)
|
|
|
NM_031372.4(HNRNPDL):c.241C>G (p.Arg81Gly)
|
|
|
NM_031372.4(HNRNPDL):c.328C>T (p.Gln110Ter)
|
|
|
NM_031407.7(HUWE1):c.10036-7C>T
|
|
|
NM_031407.7(HUWE1):c.10087A>G (p.Ser3363Gly)
|
|
|
NM_031407.7(HUWE1):c.2056G>A (p.Glu686Lys)
|
|
|
NM_031407.7(HUWE1):c.4310A>T (p.His1437Leu)
|
|
|
NM_031407.7(HUWE1):c.5108C>T (p.Thr1703Met)
|
|
|
NM_031407.7(HUWE1):c.7597G>A (p.Gly2533Ser)
|
rs2147610748
|
|
NM_031407.7(HUWE1):c.9920G>T (p.Gly3307Val)
|
|
|
NM_031418.4(ANO3):c.1339A>T (p.Lys447Ter)
|
|
|
NM_031418.4(ANO3):c.1448-18C>T
|
|
|
NM_031443.4(CCM2):c.153G>T (p.Glu51Asp)
|
|
|
NM_031448.6(C19orf12):c.161G>C (p.Gly54Ala)
|
rs752450983
|
|
NM_031885.5(BBS2):c.-14A>G
|
rs1567588946
|
|
NM_031885.5(BBS2):c.1447A>G (p.Met483Val)
|
rs748721721
|
|
NM_031885.5(BBS2):c.947G>A (p.Gly316Asp)
|
|
|
NM_031942.5(CDCA7):c.196dup (p.Tyr66fs)
|
|
|
NM_031942.5(CDCA7):c.761G>T (p.Arg254Leu)
|
rs200556185
|
|
NM_032040.5(CCDC8):c.1198G>C (p.Gly400Arg)
|
|
|
NM_032040.5(CCDC8):c.1454G>A (p.Arg485His)
|
|
|
NM_032040.5(CCDC8):c.1510A>G (p.Thr504Ala)
|
|
|
NM_032040.5(CCDC8):c.572C>T (p.Ala191Val)
|
|
|
NM_032043.3(BRIP1):c.-4C>T
|
rs2145866620
|
|
NM_032043.3(BRIP1):c.104G>T (p.Gly35Val)
|
rs876659168
|
|
NM_032043.3(BRIP1):c.121C>G (p.His41Asp)
|
rs770930270
|
|
NM_032043.3(BRIP1):c.1277T>G (p.Val426Gly)
|
rs1567829202
|
|
NM_032043.3(BRIP1):c.1352C>T (p.Ala451Val)
|
rs771861055
|
|
NM_032043.3(BRIP1):c.1465A>G (p.Ile489Val)
|
rs1555605855
|
|
NM_032043.3(BRIP1):c.1489G>C (p.Val497Leu)
|
rs876658725
|
|
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile)
|
rs786201701
|
|
NM_032043.3(BRIP1):c.1588C>T (p.Leu530Phe)
|
rs1326418771
|
|
NM_032043.3(BRIP1):c.1661A>G (p.Gln554Arg)
|
rs1567813893
|
|
NM_032043.3(BRIP1):c.1682A>C (p.Gln561Pro)
|
rs1603334713
|
|
NM_032043.3(BRIP1):c.172T>C (p.Cys58Arg)
|
|
|
NM_032043.3(BRIP1):c.1760A>T (p.His587Leu)
|
rs876660646
|
|
NM_032043.3(BRIP1):c.1808T>C (p.Ile603Thr)
|
rs1555602215
|
|
NM_032043.3(BRIP1):c.1824G>C (p.Gln608His)
|
rs1567812636
|
|
NM_032043.3(BRIP1):c.1836G>T (p.Leu612Phe)
|
rs1464898721
|
|
NM_032043.3(BRIP1):c.1840T>G (p.Ser614Ala)
|
|
|
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.1946G>C (p.Gly649Ala)
|
rs746066323
|
|
NM_032043.3(BRIP1):c.1972C>A (p.Arg658=)
|
rs786203170
|
|
NM_032043.3(BRIP1):c.1973G>A (p.Arg658Gln)
|
rs759142191
|
|
NM_032043.3(BRIP1):c.2097G>A (p.Lys699=)
|
rs1060501754
|
|
NM_032043.3(BRIP1):c.20A>T (p.Glu7Val)
|
|
|
NM_032043.3(BRIP1):c.2102T>C (p.Leu701Ser)
|
rs876658270
|
|
NM_032043.3(BRIP1):c.2131A>G (p.Thr711Ala)
|
rs760515227
|
|
NM_032043.3(BRIP1):c.2146A>G (p.Asn716Asp)
|
rs1060501745
|
|
NM_032043.3(BRIP1):c.214G>A (p.Ala72Thr)
|
rs1357919929
|
|
NM_032043.3(BRIP1):c.2325T>G (p.Asn775Lys)
|
rs375146450
|
|
NM_032043.3(BRIP1):c.232G>C (p.Glu78Gln)
|
rs2145830931
|
|
NM_032043.3(BRIP1):c.2354C>T (p.Pro785Leu)
|
rs2144675861
|
|
NM_032043.3(BRIP1):c.2405A>G (p.Asp802Gly)
|
rs876660273
|
|
NM_032043.3(BRIP1):c.2493-10T>A
|
rs776255327
|
|
NM_032043.3(BRIP1):c.2493-10dup
|
rs1457869893
|
|
NM_032043.3(BRIP1):c.2566T>C (p.Tyr856His)
|
rs2061476921
|
|
NM_032043.3(BRIP1):c.2573C>T (p.Ser858Phe)
|
rs1064793893
|
|
NM_032043.3(BRIP1):c.2576-3T>C
|
rs2144119000
|
|
NM_032043.3(BRIP1):c.2803G>A (p.Val935Met)
|
rs1219152456
|
|
NM_032043.3(BRIP1):c.2804T>C (p.Val935Ala)
|
rs4988356
|
|
NM_032043.3(BRIP1):c.297C>G (p.Asp99Glu)
|
rs201617644
|
|
NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile)
|
rs749978235
|
|
NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr)
|
rs1555572620
|
|
NM_032043.3(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer)
|
rs876660100
|
|
NM_032043.3(BRIP1):c.3424A>G (p.Thr1142Ala)
|
rs2061307605
|
|
NM_032043.3(BRIP1):c.3435A>C (p.Glu1145Asp)
|
rs876660035
|
|
NM_032043.3(BRIP1):c.343C>T (p.Pro115Ser)
|
rs876659142
|
|
NM_032043.3(BRIP1):c.3514G>T (p.Glu1172Ter)
|
|
|
NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser)
|
rs889877039
|
|
NM_032043.3(BRIP1):c.3607_3608delinsAT (p.Glu1203Ile)
|
rs587782615
|
|
NM_032043.3(BRIP1):c.370A>C (p.Thr124Pro)
|
rs45617634
|
|
NM_032043.3(BRIP1):c.388G>A (p.Glu130Lys)
|
rs876658860
|
|
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu)
|
rs61757643
|
|
NM_032043.3(BRIP1):c.507+9_507+10del
|
rs747185394
|
|
NM_032043.3(BRIP1):c.508-10G>C
|
rs2078749443
|
|
NM_032043.3(BRIP1):c.508-8G>A
|
rs202074040
|
|
NM_032043.3(BRIP1):c.697A>G (p.Ile233Val)
|
rs769535320
|
|
NM_032043.3(BRIP1):c.749C>G (p.Thr250Arg)
|
rs1555609275
|
|
NM_032043.3(BRIP1):c.795G>T (p.Arg265Ser)
|
rs61754143
|
|
NM_032043.3(BRIP1):c.929G>A (p.Cys310Tyr)
|
rs1567832184
|
|
NM_032043.3(BRIP1):c.969C>G (p.His323Gln)
|
rs1555607775
|
|
NM_032043.3(BRIP1):c.975A>T (p.Leu325Phe)
|
rs771630777
|
|
NM_032119.4(ADGRV1):c.10686C>A (p.Ser3562Arg)
|
|
|
NM_032119.4(ADGRV1):c.13048T>C (p.Ser4350Pro)
|
|
|
NM_032119.4(ADGRV1):c.13751AAGGAG[3] (p.Gly4587_Gly4588insGluGly)
|
|
|
NM_032119.4(ADGRV1):c.2399G>A (p.Arg800Gln)
|
|
|
NM_032119.4(ADGRV1):c.3826G>A (p.Gly1276Ser)
|
|
|
NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys)
|
rs1580609185
|
|
NM_032119.4(ADGRV1):c.558+5G>A
|
|
|
NM_032119.4(ADGRV1):c.7130G>A (p.Arg2377Gln)
|
rs369341309
|
|
NM_032119.4(ADGRV1):c.7307T>G (p.Leu2436Arg)
|
|
|
NM_032119.4(ADGRV1):c.9202G>T (p.Ala3068Ser)
|
rs972777692
|
|
NM_032122.5(DTNBP1):c.1019_1020del (p.Glu340fs)
|
rs752074481
|
|
NM_032178.3(SLC7A6OS):c.759C>G (p.Tyr253Ter)
|
|
|
NM_032188.3(KAT8):c.110C>G (p.Ser37Cys)
|
|
|
NM_032193.4(RNASEH2C):c.438_439dup (p.Ala147fs)
|
|
|
NM_032193.4(RNASEH2C):c.495A>G (p.Ter165Trp)
|
rs749473518
|
|
NM_032242.4(PLXNA1):c.2618C>T (p.Thr873Met)
|
|
|
NM_032242.4(PLXNA1):c.329G>A (p.Ser110Asn)
|
|
|
NM_032271.3(TRAF7):c.56T>C (p.Leu19Pro)
|
|
|
NM_032271.3(TRAF7):c.65C>A (p.Pro22Gln)
|
|
|
NM_032271.3(TRAF7):c.946C>T (p.Arg316Cys)
|
|
|
NM_032305.3(POLR3GL):c.2T>C (p.Met1Thr)
|
|
|
NM_032380.5(GFM2):c.2247dup (p.Ser750fs)
|
|
|
NM_032383.5(HPS3):c.121G>A (p.Val41Met)
|
|
|
NM_032387.5(WNK4):c.3593G>A (p.Arg1198His)
|
|
|
NM_032436.4(CHAMP1):c.1474G>A (p.Val492Ile)
|
rs1555379778
|
|
NM_032436.4(CHAMP1):c.2012T>C (p.Met671Thr)
|
|
|
NM_032444.4(SLX4):c.611G>A (p.Arg204His)
|
|
|
NM_032482.3(DOT1L):c.2545-4G>A
|
|
|
NM_032520.5(GNPTG):c.277G>A (p.Glu93Lys)
|
|
|
NM_032520.5(GNPTG):c.754C>T (p.Leu252Phe)
|
|
|
NM_032525.3(TUBB6):c.90C>G (p.Ile30Met)
|
rs1906161383
|
|
NM_032539.5(SLITRK2):c.1721G>A (p.Arg574Lys)
|
|
|
NM_032545.4(CFC1):c.196_207dup (p.Gly69_Pro70insGluGlyTrpGly)
|
|
|
NM_032551.5(KISS1R):c.1028_1041del (p.Arg343fs)
|
|
|
NM_032578.4(MYPN):c.1162C>T (p.Pro388Ser)
|
|
|
NM_032578.4(MYPN):c.1508C>A (p.Ala503Asp)
|
|
|
NM_032578.4(MYPN):c.2189C>G (p.Thr730Arg)
|
rs373040567
|
|
NM_032578.4(MYPN):c.3373G>A (p.Glu1125Lys)
|
|
|
NM_032578.4(MYPN):c.3493+16G>C
|
|
|
NM_032581.4(HYCC1):c.-29+2T>G
|
|
|
NM_032588.4(TRIM63):c.170C>G (p.Pro57Arg)
|
|
|
NM_032588.4(TRIM63):c.185G>A (p.Arg62Gln)
|
|
|
NM_032588.4(TRIM63):c.235C>T (p.Arg79Cys)
|
|
|
NM_032588.4(TRIM63):c.332+4G>T
|
|
|
NM_032588.4(TRIM63):c.338C>T (p.Pro113Leu)
|
|
|
NM_032588.4(TRIM63):c.625C>G (p.Leu209Val)
|
|
|
NM_032588.4(TRIM63):c.866C>T (p.Ala289Val)
|
|
|
NM_032601.4(MCEE):c.419dup (p.Lys141fs)
|
rs776473131
|
|
NM_032608.7(MYO18B):c.3824T>G (p.Val1275Gly)
|
|
|
NM_032620.4(GTPBP3):c.-16C>G
|
|
|
NM_032620.4(GTPBP3):c.665C>A (p.Ala222Asp)
|
rs373370177
|
|
NM_032634.4(PIGO):c.1673C>T (p.Ala558Val)
|
rs544432298
|
|
NM_032638.5(GATA2):c.852C>T (p.Ser284=)
|
rs1282036381
|
|
NM_032656.4(DHX37):c.1150C>G (p.Leu384Val)
|
|
|
NM_032730.5(RTN4IP1):c.433G>A (p.Ala145Thr)
|
|
|
NM_032737.4(LMNB2):c.151C>T (p.Arg51Cys)
|
|
|
NM_032790.4(ORAI1):c.58G>A (p.Gly20Ser)
|
rs1244560316
|
|
NM_032790.4(ORAI1):c.614A>T (p.Gln205Leu)
|
|
|
NM_032790.4(ORAI1):c.95_131dup (p.Pro46fs)
|
|
|
NM_032856.5(WDR73):c.1132del (p.Arg378fs)
|
rs747109506
|
|
NM_032861.4(SERAC1):c.-1A>T
|
|
|
NM_032888.4(COL27A1):c.1892G>A (p.Gly631Glu)
|
|
|
NM_032888.4(COL27A1):c.2855G>A (p.Gly952Glu)
|
|
|
NM_032888.4(COL27A1):c.3178G>C (p.Gly1060Arg)
|
|
|
NM_032888.4(COL27A1):c.3394G>A (p.Gly1132Ser)
|
|
|
NM_032888.4(COL27A1):c.4351G>C (p.Gly1451Arg)
|
rs761876047
|
|
NM_032888.4(COL27A1):c.4765G>C (p.Gly1589Arg)
|
|
|
NM_032892.5(FRMD5):c.178A>G (p.Ile60Val)
|
|
|
NM_033004.4(NLRP1):c.3503dup (p.His1168fs)
|
|
|
NM_033026.6(PCLO):c.1229C>G (p.Pro410Arg)
|
|
|
NM_033026.6(PCLO):c.1426CCAGCAAAGCCCCCACCTCAACAGCCTGGC[3] (p.476PAKPPPQQPG[3])
|
rs750616592
|
|
NM_033026.6(PCLO):c.5247A>C (p.Lys1749Asn)
|
rs370974945
|
|
NM_033026.6(PCLO):c.6532C>T (p.Pro2178Ser)
|
rs201432429
|
|
NM_033026.6(PCLO):c.9481A>G (p.Ile3161Val)
|
|
|
NM_033028.5(BBS4):c.1294del (p.Glu432fs)
|
rs912967826
|
|
NM_033028.5(BBS4):c.439T>A (p.Tyr147Asn)
|
rs781691906
|
|
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter)
|
rs730880357
|
|
NM_033056.4(PCDH15):c.4768A>G (p.Asn1590Asp)
|
rs2132504927
|
|
NM_033056.4(PCDH15):c.4777_4801dup (p.Gln1601fs)
|
|
|
NM_033056.4(PCDH15):c.4902del (p.Glu1635fs)
|
|
|
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs)
|
rs1491209806
|
|
NM_033056.4(PCDH15):c.4982C>A (p.Ser1661Ter)
|
rs1287970288
|
|
NM_033056.4(PCDH15):c.5100_5101dup (p.Ser1701fs)
|
rs918473867
|
|
NM_033056.4(PCDH15):c.5253_5266del (p.Pro1752fs)
|
rs2132494091
|
|
NM_033087.4(ALG2):c.1055_1056delinsTGA (p.Ser352fs)
|
rs1554707637
|
|
NM_033087.4(ALG2):c.212C>G (p.Ala71Gly)
|
rs551744220
|
|
NM_033109.5(PNPT1):c.2148+8G>C
|
|
|
NM_033118.4(MYLK2):c.1045A>T (p.Ile349Phe)
|
|
|
NM_033118.4(MYLK2):c.1048G>A (p.Glu350Lys)
|
|
|
NM_033118.4(MYLK2):c.1580C>A (p.Ala527Asp)
|
|
|
NM_033118.4(MYLK2):c.1741C>T (p.Arg581Cys)
|
rs766199082
|
|
NM_033118.4(MYLK2):c.436T>C (p.Phe146Leu)
|
rs2062247462
|
|
NM_033118.4(MYLK2):c.759C>G (p.Cys253Trp)
|
rs773021152
|
|
NM_033337.3(CAV3):c.109G>A (p.Val37Ile)
|
|
|
NM_033337.3(CAV3):c.227T>C (p.Leu76Ser)
|
rs755505530
|
|
NM_033337.3(CAV3):c.277G>T (p.Ala93Ser)
|
rs28936686
|
|
NM_033337.3(CAV3):c.400G>C (p.Ala134Pro)
|
|
|
NM_033343.4(LHX4):c.300G>C (p.Gln100His)
|
|
|
NM_033343.4(LHX4):c.727_732dup (p.Ser244_Ser245insGluSer)
|
|
|
NM_033360.4(KRAS):c.140A>G (p.Asp47Gly)
|
rs1565885006
|
|
NM_033360.4(KRAS):c.291-5C>G
|
rs1565884303
|
|
NM_033360.4(KRAS):c.400G>A (p.Ala134Thr)
|
rs1565884227
|
|
NM_033360.4(KRAS):c.461A>T (p.Asp154Val)
|
|
|
NM_033380.3(COL4A5):c.-16C>T
|
|
|
NM_033380.3(COL4A5):c.-25_-8dup
|
rs752443408
|
|
NM_033380.3(COL4A5):c.1340-8T>G
|
|
|
NM_033380.3(COL4A5):c.1948+8T>C
|
|
|
NM_033380.3(COL4A5):c.2509+6A>G
|
|
|
NM_033380.3(COL4A5):c.3454+5G>T
|
|
|
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser)
|
rs2147982351
|
|
NM_033380.3(COL4A5):c.4892G>A (p.Arg1631His)
|
|
|
NM_033380.3(COL4A5):c.830C>T (p.Pro277Leu)
|
rs754849522
|
|
NM_033453.4(ITPA):c.189+4C>G
|
|
|
NM_033453.4(ITPA):c.401G>A (p.Gly134Asp)
|
rs1029276206
|
|
NM_033641.4(COL4A6):c.1118G>A (p.Gly373Glu)
|
rs1234916196
|
|
NM_033641.4(COL4A6):c.1232A>G (p.Gln411Arg)
|
|
|
NM_052845.4(MMAB):c.716_718delinsAGT (p.Met239_Lys240delinsLysTer)
|
|
|
NM_052854.4(CREB3L1):c.1109C>T (p.Thr370Ile)
|
rs776460030
|
|
NM_052854.4(CREB3L1):c.523G>A (p.Gly175Arg)
|
|
|
NM_052867.4(NALCN):c.2917C>T (p.Pro973Ser)
|
|
|
NM_052867.4(NALCN):c.5087T>C (p.Met1696Thr)
|
|
|
NM_052989.3(IFT122):c.394A>C (p.Ser132Arg)
|
|
|
NM_053025.4(MYLK):c.1403G>A (p.Gly468Asp)
|
|
|
NM_053025.4(MYLK):c.1651+8C>T
|
|
|
NM_053025.4(MYLK):c.2338G>C (p.Val780Leu)
|
rs2061520061
|
|
NM_053025.4(MYLK):c.3137C>T (p.Thr1046Ile)
|
rs1060502533
|
|
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met)
|
rs368390254
|
|
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu)
|
rs368390254
|
|
NM_053025.4(MYLK):c.3677C>T (p.Pro1226Leu)
|
|
|
NM_053025.4(MYLK):c.3726G>C (p.Gln1242His)
|
rs2059732665
|
|
NM_053025.4(MYLK):c.5368+9_5368+11del
|
rs753392124
|
|
NM_053025.4(MYLK):c.5399T>G (p.Val1800Gly)
|
|
|
NM_053025.4(MYLK):c.773+16G>T
|
|
|
NM_053025.4(MYLK):c.992C>T (p.Thr331Met)
|
rs371825849
|
|
NM_053056.3(CCND1):c.387_392delinsGGAG (p.Asp129fs)
|
|
|
NM_054012.4(ASS1):c.1022C>T (p.Ser341Phe)
|
|
|
NM_054012.4(ASS1):c.1165A>C (p.Thr389Pro)
|
|
|
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile)
|
rs1474017319
|
|
NM_054012.4(ASS1):c.140C>T (p.Ala47Val)
|
rs1301161301
|
|
NM_054012.4(ASS1):c.725C>T (p.Thr242Ile)
|
|
|
NM_054012.4(ASS1):c.773+6T>G
|
|
|
NM_054012.4(ASS1):c.904A>G (p.Met302Val)
|
rs1846391609
|
|
NM_054012.4(ASS1):c.968C>T (p.Thr323Ile)
|
|
|
NM_054012.4(ASS1):c.991T>C (p.Cys331Arg)
|
rs1055308437
|
|
NM_057176.3(BSND):c.-42_-1dup
|
|
|
NM_057176.3(BSND):c.10G>A (p.Glu4Lys)
|
rs121908145
|
|
NM_057176.3(BSND):c.23G>A (p.Arg8Gln)
|
|
|
NM_057176.3(BSND):c.467C>A (p.Ala156Asp)
|
rs1644395855
|
|
NM_057176.3(BSND):c.685C>T (p.Gln229Ter)
|
|
|
NM_057176.3(BSND):c.723del (p.Phe241fs)
|
|
|
NM_057176.3(BSND):c.802C>T (p.Gln268Ter)
|
|
|
NM_058004.4(PI4KA):c.5462-8G>A
|
|
|
NM_058172.6(ANTXR2):c.1069G>A (p.Ala357Thr)
|
rs12647691
|
|
NM_058172.6(ANTXR2):c.1347+6T>C
|
|
|
NM_058172.6(ANTXR2):c.1428+1G>A
|
rs2110011671
|
|
NM_058172.6(ANTXR2):c.1450C>T (p.Arg484Ter)
|
|
|
NM_058172.6(ANTXR2):c.1465T>C (p.Ter489Gln)
|
|
|
NM_058172.6(ANTXR2):c.469T>C (p.Ser157Pro)
|
rs2110108311
|
|
NM_058172.6(ANTXR2):c.712G>T (p.Val238Phe)
|
rs768405615
|
|
NM_058216.3(RAD51C):c.-7G>T
|
rs753249247
|
|
NM_058216.3(RAD51C):c.1000G>A (p.Glu334Lys)
|
rs1567817431
|
|
NM_058216.3(RAD51C):c.1026+6T>A
|
rs2144046795
|
|
NM_058216.3(RAD51C):c.1027-2A>G
|
rs587780835
|
|
NM_058216.3(RAD51C):c.1103G>A (p.Arg368Gln)
|
rs1378390389
|
|
NM_058216.3(RAD51C):c.249G>C (p.Lys83Asn)
|
rs145387081
|
|
NM_058216.3(RAD51C):c.265G>A (p.Glu89Lys)
|
rs876658197
|
|
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)
|
rs370212314
|
|
NM_058216.3(RAD51C):c.335G>T (p.Gly112Val)
|
rs370212314
|
|
NM_058216.3(RAD51C):c.377C>T (p.Ala126Val)
|
rs1555593858
|
|
NM_058216.3(RAD51C):c.389G>C (p.Gly130Ala)
|
rs2047958982
|
|
NM_058216.3(RAD51C):c.405-5G>A
|
rs1598459949
|
|
NM_058216.3(RAD51C):c.411G>T (p.Gln137His)
|
rs1555594552
|
|
NM_058216.3(RAD51C):c.418G>A (p.Val140Ile)
|
rs730881938
|
|
NM_058216.3(RAD51C):c.477T>G (p.Asp159Glu)
|
rs760436864
|
|
NM_058216.3(RAD51C):c.489T>A (p.Ser163Arg)
|
rs876659719
|
|
NM_058216.3(RAD51C):c.50T>C (p.Phe17Ser)
|
rs1411454855
|
|
NM_058216.3(RAD51C):c.572-3C>G
|
rs1567794089
|
|
NM_058216.3(RAD51C):c.745C>T (p.Arg249Cys)
|
rs28363311
|
|
NM_058216.3(RAD51C):c.901T>G (p.Leu301Val)
|
rs2143932190
|
|
NM_058216.3(RAD51C):c.959A>G (p.Lys320Arg)
|
rs587780260
|
|
NM_058216.3(RAD51C):c.960G>C (p.Lys320Asn)
|
rs864622395
|
|
NM_058216.3(RAD51C):c.966-1G>A
|
rs876658272
|
|
NM_058216.3(RAD51C):c.989C>T (p.Pro330Leu)
|
rs1567817392
|
|
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro)
|
rs397514662
|
|
NM_080424.4(SP110):c.3G>A (p.Met1Ile)
|
|
|
NM_080425.4(GNAS):c.1366_1367insAGGCGGCCCCTGACGCCCCAGCCGATCCCGACTCCG (p.Ser455_Gly456insGluAlaAlaProAspAlaProAlaAspProAspSer)
|
|
|
NM_080425.4(GNAS):c.1642G>C (p.Ala548Pro)
|
|
|
NM_080425.4(GNAS):c.305dup (p.Met102fs)
|
|
|
NM_080425.4(GNAS):c.543C>T (p.Val181=)
|
|
|
NM_080425.4(GNAS):c.751G>C (p.Gly251Arg)
|
|
|
NM_080425.4(GNAS):c.923C>T (p.Pro308Leu)
|
|
|
NM_080473.5(GATA5):c.695G>T (p.Arg232Leu)
|
rs753656900
|
|
NM_080669.6(SLC46A1):c.1037T>C (p.Met346Thr)
|
rs2142464726
|
|
NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)
|
|
|
NM_080680.3(COL11A2):c.2682+5G>A
|
rs1175212667
|
|
NM_080680.3(COL11A2):c.5195T>C (p.Val1732Ala)
|
|
|
NM_080911.3(UNG):c.*70_*71del
|
rs193922714
|
|
NM_080916.3(DGUOK):c.115C>G (p.Arg39Gly)
|
|
|
NM_080916.3(DGUOK):c.256-3T>C
|
|
|
NM_080916.3(DGUOK):c.834A>T (p.Ter278Tyr)
|
|
|
NM_130797.4(DPP6):c.2252C>T (p.Ala751Val)
|
|
|
NM_130797.4(DPP6):c.397G>A (p.Val133Ile)
|
|
|
NM_130837.3(OPA1):c.1230T>C (p.Asp410=)
|
|
|
NM_130837.3(OPA1):c.1916G>T (p.Arg639Leu)
|
|
|
NM_130837.3(OPA1):c.1935+17C>T
|
|
|
NM_130837.3(OPA1):c.1935+3A>G
|
rs398124300
|
|
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del)
|
rs755591067
|
|
NM_130837.3(OPA1):c.288A>T (p.Arg96Ser)
|
|
|
NM_130837.3(OPA1):c.379C>A (p.Pro127Thr)
|
|
|
NM_130839.5(UBE3A):c.2198G>A (p.Gly733Asp)
|
rs1595572384
|
|
NM_130839.5(UBE3A):c.2239T>G (p.Phe747Val)
|
rs2076968651
|
|
NM_130849.4(SLC39A4):c.192+5C>T
|
|
|
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr)
|
rs373908553
|
|
NM_133259.4(LRPPRC):c.134C>G (p.Ala45Gly)
|
rs2103796814
|
|
NM_133259.4(LRPPRC):c.1627A>G (p.Ser543Gly)
|
|
|
NM_133259.4(LRPPRC):c.1649+4A>C
|
|
|
NM_133259.4(LRPPRC):c.2741C>A (p.Pro914Gln)
|
rs1463658772
|
|
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His)
|
rs774857058
|
|
NM_133378.4(TTN):c.37385_37387delAAG
|
rs759525338
|
|
NM_133379.5(TTN):c.12673G>C (p.Asp4225His)
|
|
|
NM_133433.4(NIPBL):c.2798C>G (p.Ala933Gly)
|
|
|
NM_133433.4(NIPBL):c.5489C>T (p.Ala1830Val)
|
|
|
NM_133433.4(NIPBL):c.5710-3T>C
|
|
|
NM_133433.4(NIPBL):c.6589+8dup
|
|
|
NM_133433.4(NIPBL):c.7003C>T (p.Arg2335Trp)
|
|
|
NM_133433.4(NIPBL):c.7063A>G (p.Met2355Val)
|
rs2149742243
|
|
NM_133433.4(NIPBL):c.7867C>T (p.Leu2623Phe)
|
|
|
NM_134261.3(RORA):c.196+51339G>A
|
|
|
NM_134261.3(RORA):c.196+51343A>G
|
|
|
NM_138295.5(PKD1L1):c.3683G>A (p.Ser1228Asn)
|
|
|
NM_138295.5(PKD1L1):c.5605C>T (p.Arg1869Cys)
|
|
|
NM_138383.3(MTSS2):c.2018G>C (p.Ser673Thr)
|
|
|
NM_138383.3(MTSS2):c.291-8C>T
|
|
|
NM_138459.5(NUS1):c.97T>C (p.Trp33Arg)
|
|
|
NM_138477.4(CDAN1):c.1003C>T (p.Arg335Trp)
|
rs751595854
|
|
NM_138477.4(CDAN1):c.2029C>T (p.Arg677Trp)
|
|
|
NM_138576.4(BCL11B):c.1602_1628del (p.Asp534_Glu542del)
|
|
|
NM_138615.3(DHX30):c.1234C>T (p.Arg412Cys)
|
|
|
NM_138615.3(DHX30):c.1334A>G (p.Asn445Ser)
|
rs2107133781
|
|
NM_138615.3(DHX30):c.2880T>G (p.Asn960Lys)
|
|
|
NM_138615.3(DHX30):c.441_442delinsGA (p.Ser148Thr)
|
|
|
NM_138615.3(DHX30):c.521G>A (p.Arg174Gln)
|
|
|
NM_138691.3(TMC1):c.1198A>T (p.Thr400Ser)
|
|
|
NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr)
|
rs1772559884
|
|
NM_138694.4(PKHD1):c.10226A>G (p.Asp3409Gly)
|
|
|
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)
|
|
|
NM_138694.4(PKHD1):c.1124G>A (p.Arg375Gln)
|
|
|
NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter)
|
|
|
NM_138694.4(PKHD1):c.1234-10_1234-9delinsAC
|
rs1554217929
|
|
NM_138694.4(PKHD1):c.1258G>C (p.Gly420Arg)
|
rs140458350
|
|
NM_138694.4(PKHD1):c.1408G>T (p.Gly470Cys)
|
|
|
NM_138694.4(PKHD1):c.1919A>G (p.Lys640Arg)
|
rs1807314191
|
|
NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser)
|
rs1806602099
|
|
NM_138694.4(PKHD1):c.2209T>A (p.Ser737Thr)
|
|
|
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.2569G>A (p.Gly857Arg)
|
rs1562220663
|
|
NM_138694.4(PKHD1):c.2642T>C (p.Val881Ala)
|
rs373974753
|
|
NM_138694.4(PKHD1):c.2926T>C (p.Ser976Pro)
|
rs770882723
|
|
NM_138694.4(PKHD1):c.3349A>G (p.Ile1117Val)
|
|
|
NM_138694.4(PKHD1):c.4165C>A (p.Pro1389Thr)
|
rs2128144732
|
|
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys)
|
rs913487671
|
|
NM_138694.4(PKHD1):c.5908G>C (p.Gly1970Arg)
|
rs794727592
|
|
NM_138694.4(PKHD1):c.5953G>A (p.Ala1985Thr)
|
rs2127769211
|
|
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
|
|
|
NM_138694.4(PKHD1):c.6490+3A>G
|
|
|
NM_138694.4(PKHD1):c.7205G>A (p.Gly2402Asp)
|
|
|
NM_138694.4(PKHD1):c.776C>T (p.Ser259Leu)
|
rs1160054242
|
|
NM_138694.4(PKHD1):c.787T>C (p.Ser263Pro)
|
|
|
NM_138694.4(PKHD1):c.8164A>C (p.Thr2722Pro)
|
rs1268020662
|
|
NM_138694.4(PKHD1):c.893_895del (p.Asp298_Ile299delinsVal)
|
|
|
NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)
|
|
|
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)
|
rs146649803
|
|
NM_138927.4(SON):c.2795A>G (p.His932Arg)
|
|
|
NM_138927.4(SON):c.4453A>G (p.Lys1485Glu)
|
|
|
NM_138927.4(SON):c.6493C>T (p.Pro2165Ser)
|
|
|
NM_138927.4(SON):c.78-9C>T
|
|
|
NM_139027.6(ADAMTS13):c.1351G>A (p.Ala451Thr)
|
rs375508823
|
|
NM_139027.6(ADAMTS13):c.1769C>T (p.Pro590Leu)
|
|
|
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys)
|
rs104894746
|
|
NM_139058.3(ARX):c.1300GCC[10] (p.Ala438_Ala440dup)
|
rs398124508
|
|
NM_139058.3(ARX):c.324_341del (p.Ala110_Ala115del)
|
rs2147324337
|
|
NM_139076.3(ABRAXAS1):c.-5G>C
|
rs1420806723
|
|
NM_139076.3(ABRAXAS1):c.-8G>A
|
|
|
NM_139076.3(ABRAXAS1):c.-9G>A
|
|
|
NM_139076.3(ABRAXAS1):c.100C>A (p.Leu34Ile)
|
rs1723022716
|
|
NM_139076.3(ABRAXAS1):c.1124G>C (p.Gly375Ala)
|
rs751122263
|
|
NM_139076.3(ABRAXAS1):c.1180A>C (p.Ile394Leu)
|
rs1560570462
|
|
NM_139076.3(ABRAXAS1):c.1187del (p.Lys396fs)
|
|
|
NM_139076.3(ABRAXAS1):c.1A>C (p.Met1Leu)
|
rs369467990
|
|
NM_139076.3(ABRAXAS1):c.234C>T (p.Gly78=)
|
rs765721350
|
|
NM_139076.3(ABRAXAS1):c.250G>A (p.Ala84Thr)
|
rs1404975428
|
|
NM_139076.3(ABRAXAS1):c.327C>G (p.Ile109Met)
|
rs924277966
|
|
NM_139076.3(ABRAXAS1):c.364C>T (p.Gln122Ter)
|
rs137876115
|
|
NM_139076.3(ABRAXAS1):c.410C>T (p.Pro137Leu)
|
rs1560574581
|
|
NM_139076.3(ABRAXAS1):c.414T>G (p.Ser138Arg)
|
rs1722530567
|
|
NM_139076.3(ABRAXAS1):c.443G>A (p.Arg148Gln)
|
rs760079258
|
|
NM_139076.3(ABRAXAS1):c.530T>C (p.Leu177Pro)
|
|
|
NM_139076.3(ABRAXAS1):c.533G>A (p.Gly178Asp)
|
rs773434048
|
|
NM_139076.3(ABRAXAS1):c.596+9C>G
|
rs778567938
|
|
NM_139076.3(ABRAXAS1):c.643A>T (p.Ile215Leu)
|
rs1578126311
|
|
NM_139076.3(ABRAXAS1):c.793G>A (p.Ala265Thr)
|
|
|
NM_139076.3(ABRAXAS1):c.7G>A (p.Gly3Arg)
|
rs370520589
|
|
NM_139076.3(ABRAXAS1):c.7G>T (p.Gly3Trp)
|
rs370520589
|
|
NM_139076.3(ABRAXAS1):c.820C>T (p.Pro274Ser)
|
rs1060503252
|
|
NM_139076.3(ABRAXAS1):c.88-7T>C
|
|
|
NM_139076.3(ABRAXAS1):c.952G>C (p.Asp318His)
|
rs775345294
|
|
NM_139076.3(ABRAXAS1):c.977T>C (p.Met326Thr)
|
rs1722176448
|
|
NM_139276.3(STAT3):c.1229A>G (p.His410Arg)
|
rs2144772044
|
|
NM_139276.3(STAT3):c.1366-20A>G
|
rs1567710255
|
|
NM_139276.3(STAT3):c.1840A>C (p.Ser614Arg)
|
rs886039546
|
|
NM_139276.3(STAT3):c.1849G>A (p.Gly617Arg)
|
rs2144691698
|
|
NM_139276.3(STAT3):c.1852G>C (p.Gly618Arg)
|
rs2081548277
|
|
NM_139276.3(STAT3):c.1919_1920delinsTT (p.Tyr640Phe)
|
rs2081522163
|
|
NM_139276.3(STAT3):c.1940A>T (p.Asn647Ile)
|
rs770986654
|
|
NM_139276.3(STAT3):c.1940_1941delinsTT (p.Asn647Ile)
|
|
|
NM_139276.3(STAT3):c.2144+46_2144+47del
|
rs1279773038
|
|
NM_139276.3(STAT3):c.2144+9C>G
|
|
|
NM_139276.3(STAT3):c.735_744del (p.Arg246fs)
|
|
|
NM_139315.3(TAF6):c.1629_1632dup (p.Ser545fs)
|
rs1796720731
|
|
NM_139315.3(TAF6):c.1767_1770dup (p.Ala591fs)
|
rs2116693457
|
|
NM_139318.5(KCNH5):c.2471A>T (p.Lys824Ile)
|
|
|
NM_139319.3(SLC17A8):c.1426-18C>A
|
|
|
NM_139319.3(SLC17A8):c.183C>G (p.Ser61Arg)
|
|
|
NM_144508.5(KNL1):c.5723T>G (p.Leu1908Ter)
|
|
|
NM_144573.4(NEXN):c.1814del (p.Val605fs)
|
|
|
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)
|
rs397517853
|
|
NM_144639.3(UROC1):c.709G>C (p.Glu237Gln)
|
rs150437149
|
|
NM_144639.3(UROC1):c.908C>A (p.Ala303Glu)
|
|
|
NM_144670.6(A2ML1):c.1021T>A (p.Ser341Thr)
|
rs1277845851
|
|
NM_144670.6(A2ML1):c.1022C>A (p.Ser341Ter)
|
rs1943384970
|
|
NM_144670.6(A2ML1):c.1248+10G>A
|
|
|
NM_144670.6(A2ML1):c.1249-19_1319dup
|
rs1943546023
|
|
NM_144670.6(A2ML1):c.128_224dup (p.His75_Leu76insGluProTrpValGlnTer)
|
rs1942804878
|
|
NM_144670.6(A2ML1):c.1298G>A (p.Arg433His)
|
rs376035211
|
|
NM_144670.6(A2ML1):c.1423T>A (p.Tyr475Asn)
|
|
|
NM_144670.6(A2ML1):c.1475A>G (p.Tyr492Cys)
|
rs1943556876
|
|
NM_144670.6(A2ML1):c.1630G>A (p.Gly544Ser)
|
rs1032646451
|
|
NM_144670.6(A2ML1):c.1656C>A (p.Phe552Leu)
|
|
|
NM_144670.6(A2ML1):c.1684-47_1724dup
|
rs1943731808
|
|
NM_144670.6(A2ML1):c.1730T>G (p.Val577Gly)
|
rs917780860
|
|
NM_144670.6(A2ML1):c.1750G>A (p.Ala584Thr)
|
rs1943737655
|
|
NM_144670.6(A2ML1):c.1775G>T (p.Arg592Leu)
|
rs200673370
|
|
NM_144670.6(A2ML1):c.1789_1790del (p.Ser597fs)
|
rs779516620
|
|
NM_144670.6(A2ML1):c.1828C>G (p.Arg610Gly)
|
rs375392265
|
|
NM_144670.6(A2ML1):c.1834-1G>T
|
rs1943786459
|
|
NM_144670.6(A2ML1):c.1834-20_1887dup
|
rs1943785430
|
|
NM_144670.6(A2ML1):c.1955G>A (p.Gly652Glu)
|
|
|
NM_144670.6(A2ML1):c.2032G>A (p.Val678Met)
|
rs148198269
|
|
NM_144670.6(A2ML1):c.2242G>A (p.Gly748Arg)
|
rs2136878186
|
|
NM_144670.6(A2ML1):c.2257C>T (p.His753Tyr)
|
|
|
NM_144670.6(A2ML1):c.2366C>T (p.Pro789Leu)
|
rs1943905141
|
|
NM_144670.6(A2ML1):c.2463+13G>A
|
rs151032368
|
|
NM_144670.6(A2ML1):c.2707G>A (p.Val903Ile)
|
rs1416944345
|
|
NM_144670.6(A2ML1):c.2716G>A (p.Glu906Lys)
|
|
|
NM_144670.6(A2ML1):c.2752C>A (p.Leu918Met)
|
rs1944005605
|
|
NM_144670.6(A2ML1):c.290_384dup (p.Pro129delinsGlyCysArgGluLeuGluIleThrSerAlaLeuArgArgArgLysArgPheTer)
|
rs1942828214
|
|
NM_144670.6(A2ML1):c.29T>A (p.Leu10Ter)
|
rs2136691291
|
|
NM_144670.6(A2ML1):c.3007G>C (p.Val1003Leu)
|
rs2136913749
|
|
NM_144670.6(A2ML1):c.3108-11T>C
|
|
|
NM_144670.6(A2ML1):c.3264+4C>T
|
|
|
NM_144670.6(A2ML1):c.3296C>T (p.Ala1099Val)
|
rs751968824
|
|
NM_144670.6(A2ML1):c.3434C>A (p.Ser1145Tyr)
|
|
|
NM_144670.6(A2ML1):c.3434C>T (p.Ser1145Phe)
|
rs768331924
|
|
NM_144670.6(A2ML1):c.3718-16_3791dup
|
rs1944470043
|
|
NM_144670.6(A2ML1):c.3718-6C>T
|
rs1944470448
|
|
NM_144670.6(A2ML1):c.3886G>A (p.Gly1296Arg)
|
rs760857113
|
|
NM_144670.6(A2ML1):c.3971T>C (p.Met1324Thr)
|
|
|
NM_144670.6(A2ML1):c.3971T>G (p.Met1324Arg)
|
rs1341976356
|
|
NM_144670.6(A2ML1):c.4061+16G>A
|
rs200962359
|
|
NM_144670.6(A2ML1):c.4061+1G>C
|
rs202067416
|
|
NM_144670.6(A2ML1):c.4088A>G (p.Asn1363Ser)
|
|
|
NM_144670.6(A2ML1):c.409+13T>C
|
|
|
NM_144670.6(A2ML1):c.4105G>T (p.Val1369Leu)
|
rs755052089
|
|
NM_144670.6(A2ML1):c.44C>A (p.Ala15Asp)
|
rs1942780601
|
|
NM_144670.6(A2ML1):c.462+16G>A
|
|
|
NM_144670.6(A2ML1):c.462+2T>C
|
rs201877710
|
|
NM_144670.6(A2ML1):c.479T>C (p.Leu160Pro)
|
rs769954501
|
|
NM_144670.6(A2ML1):c.52G>A (p.Glu18Lys)
|
|
|
NM_144670.6(A2ML1):c.63-6del
|
rs1463624612
|
|
NM_144670.6(A2ML1):c.941T>G (p.Ile314Ser)
|
rs889804273
|
|
NM_144687.4(NLRP12):c.1462G>T (p.Gly488Trp)
|
|
|
NM_144687.4(NLRP12):c.1884G>T (p.Gln628His)
|
|
|
NM_144687.4(NLRP12):c.46dup (p.Tyr16fs)
|
rs1599879570
|
|
NM_144687.4(NLRP12):c.838C>T (p.Gln280Ter)
|
rs145049569
|
|
NM_144772.3(NAXE):c.779del (p.Gly260fs)
|
|
|
NM_144773.4(PROKR2):c.1000G>A (p.Val334Met)
|
|
|
NM_144773.4(PROKR2):c.1111G>C (p.Gly371Arg)
|
rs201023639
|
|
NM_144773.4(PROKR2):c.1155A>T (p.Ter385Cys)
|
|
|
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys)
|
rs141090506
|
|
NM_144992.5(VWA3B):c.2810_2813del (p.Val937fs)
|
|
|
NM_145046.5(CALR3):c.58A>G (p.Thr20Ala)
|
|
|
NM_145059.3(FCSK):c.1407-1G>C
|
|
|
NM_145059.3(FCSK):c.1579C>T (p.Arg527Cys)
|
rs1377077648
|
|
NM_145059.3(FCSK):c.2138C>G (p.Ala713Gly)
|
|
|
NM_145059.3(FCSK):c.2572G>T (p.Ala858Ser)
|
rs17884050
|
|
NM_145199.3(LIPT1):c.368del (p.Lys123fs)
|
|
|
NM_145239.3(PRRT2):c.227C>T (p.Ala76Val)
|
|
|
NM_145239.3(PRRT2):c.64G>A (p.Gly22Ser)
|
rs1900059601
|
|
NM_145239.3(PRRT2):c.740C>G (p.Pro247Arg)
|
|
|
NM_145261.4(DNAJC19):c.210-18A>G
|
|
|
NM_145261.4(DNAJC19):c.217G>A (p.Ala73Thr)
|
|
|
NM_145331.3(MAP3K7):c.1029T>G (p.Asp343Glu)
|
|
|
NM_145886.4(PIDD1):c.1444C>G (p.Pro482Ala)
|
|
|
NM_145886.4(PIDD1):c.2226G>T (p.Arg742Ser)
|
|
|
NM_145886.4(PIDD1):c.71A>G (p.Asp24Gly)
|
|
|
NM_147127.5(EVC2):c.1470+6A>G
|
|
|
NM_147127.5(EVC2):c.1909C>A (p.Gln637Lys)
|
|
|
NM_147127.5(EVC2):c.2059C>T (p.Arg687Cys)
|
|
|
NM_147127.5(EVC2):c.2293A>G (p.Lys765Glu)
|
|
|
NM_148897.3(SDR9C7):c.888del (p.Pro296_Val297insTer)
|
|
|
NM_152281.3(GORAB):c.1062C>A (p.Asn354Lys)
|
rs2101834808
|
|
NM_152296.5(ATP1A3):c.2648G>A (p.Arg883His)
|
|
|
NM_152296.5(ATP1A3):c.760C>T (p.Arg254Cys)
|
|
|
NM_152415.3(VPS37A):c.1113+1G>A
|
|
|
NM_152419.3(HGSNAT):c.-115_-101dup
|
rs534597242
|
|
NM_152419.3(HGSNAT):c.-47_-38GGGCG[3]
|
rs1466847827
|
|
NM_152419.3(HGSNAT):c.-61_-37dup
|
rs1451176677
|
|
NM_152419.3(HGSNAT):c.1150C>G (p.Arg384Gly)
|
|
|
NM_152419.3(HGSNAT):c.118+67_118+90del
|
rs972393144
|
|
NM_152419.3(HGSNAT):c.1250+5G>A
|
|
|
NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys)
|
rs777276988
|
|
NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn)
|
|
|
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)
|
rs763301637
|
|
NM_152419.3(HGSNAT):c.1907G>T (p.Ter636Leu)
|
|
|
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup)
|
rs961025173
|
|
NM_152419.3(HGSNAT):c.776A>G (p.Tyr259Cys)
|
rs753843717
|
|
NM_152419.3(HGSNAT):c.850T>C (p.Trp284Arg)
|
|
|
NM_152424.4(AMER1):c.-1C>A
|
|
|
NM_152424.4(AMER1):c.3145C>T (p.Arg1049Ter)
|
rs780779666
|
|
NM_152424.4(AMER1):c.332G>C (p.Ser111Thr)
|
|
|
NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu)
|
rs2038232911
|
|
NM_152443.3(RDH12):c.770C>T (p.Thr257Met)
|
|
|
NM_152564.5(VPS13B):c.11215+1641A>G
|
|
|
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter)
|
rs769983613
|
|
NM_152564.5(VPS13B):c.1376G>A (p.Gly459Glu)
|
rs1810005848
|
|
NM_152564.5(VPS13B):c.3G>A (p.Met1Ile)
|
rs1060499779
|
|
NM_152564.5(VPS13B):c.4337G>A (p.Arg1446Gln)
|
|
|
NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del)
|
rs386834088
|
|
NM_152564.5(VPS13B):c.4949+3A>G
|
rs1824584392
|
|
NM_152564.5(VPS13B):c.5167_5168delinsTC (p.Gln1723Ser)
|
|
|
NM_152564.5(VPS13B):c.6657+3C>T
|
|
|
NM_152564.5(VPS13B):c.7462G>A (p.Asp2488Asn)
|
rs780602782
|
|
NM_152564.5(VPS13B):c.9127G>A (p.Glu3043Lys)
|
rs757673565
|
|
NM_152594.3(SPRED1):c.-12G>C
|
rs371200183
|
|
NM_152594.3(SPRED1):c.1087A>G (p.Ile363Val)
|
|
|
NM_152594.3(SPRED1):c.1112G>C (p.Cys371Ser)
|
|
|
NM_152594.3(SPRED1):c.1117G>C (p.Glu373Gln)
|
|
|
NM_152594.3(SPRED1):c.1163C>T (p.Ser388Phe)
|
rs1888487548
|
|
NM_152594.3(SPRED1):c.1231T>C (p.Ser411Pro)
|
|
|
NM_152594.3(SPRED1):c.1281_*4dup (p.His427_Ter445=)
|
rs1888490960
|
|
NM_152594.3(SPRED1):c.1304G>A (p.Cys435Tyr)
|
|
|
NM_152594.3(SPRED1):c.189G>C (p.Glu63Asp)
|
rs2140978555
|
|
NM_152594.3(SPRED1):c.221G>T (p.Cys74Phe)
|
rs1412213561
|
|
NM_152594.3(SPRED1):c.502T>G (p.Tyr168Asp)
|
rs1566872960
|
|
NM_152594.3(SPRED1):c.582+16A>G
|
rs1895996789
|
|
NM_152594.3(SPRED1):c.808G>T (p.Asp270Tyr)
|
|
|
NM_152594.3(SPRED1):c.881A>T (p.Tyr294Phe)
|
rs886051105
|
|
NM_152618.3(BBS12):c.2104C>T (p.Gln702Ter)
|
|
|
NM_152641.4(ARID2):c.2455C>G (p.Gln819Glu)
|
|
|
NM_152641.4(ARID2):c.4153G>A (p.Val1385Ile)
|
|
|
NM_152641.4(ARID2):c.4213_4214delinsTT (p.Asp1405Phe)
|
|
|
NM_152641.4(ARID2):c.4976G>A (p.Gly1659Glu)
|
|
|
NM_152703.5(SAMD9L):c.1904del (p.Leu635fs)
|
|
|
NM_152703.5(SAMD9L):c.3880A>T (p.Lys1294Ter)
|
|
|
NM_152703.5(SAMD9L):c.3909C>A (p.Tyr1303Ter)
|
|
|
NM_152722.5(HEPACAM):c.1153C>T (p.Pro385Ser)
|
rs1947132037
|
|
NM_152722.5(HEPACAM):c.382G>A (p.Asp128Asn)
|
rs1947184803
|
|
NM_152722.5(HEPACAM):c.614C>T (p.Thr205Ile)
|
rs746134081
|
|
NM_152722.5(HEPACAM):c.863G>A (p.Arg288His)
|
|
|
NM_152722.5(HEPACAM):c.952T>A (p.Ser318Thr)
|
rs1947137638
|
|
NM_152753.4(SCUBE3):c.1735C>T (p.Arg579Trp)
|
|
|
NM_152783.5(D2HGDH):c.1195G>A (p.Val399Met)
|
|
|
NM_153006.3(NAGS):c.1096+6G>A
|
|
|
NM_153006.3(NAGS):c.427-218A>C
|
|
|
NM_153240.5(NPHP3):c.2394C>G (p.Phe798Leu)
|
|
|
NM_153252.5(BRWD3):c.4384A>G (p.Ser1462Gly)
|
|
|
NM_153603.4(COG7):c.373del (p.Leu125fs)
|
|
|
NM_153676.4(USH1C):c.2457delinsCGCTGAC (p.Glu819delinsAspAlaAsp)
|
|
|
NM_153676.4(USH1C):c.434G>A (p.Cys145Tyr)
|
|
|
NM_153676.4(USH1C):c.527C>T (p.Pro176Leu)
|
rs1461558857
|
|
NM_153676.4(USH1C):c.96G>A (p.Met32Ile)
|
|
|
NM_153704.6(TMEM67):c.-1C>T
|
|
|
NM_153704.6(TMEM67):c.1575+5G>A
|
rs1554555063
|
|
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)
|
rs863225238
|
|
NM_153704.6(TMEM67):c.2184_2185insCACTGCACTCCAGCCTGGGTGACAGAGCGGGAC (p.Ser728_Cys729insHisCysThrProAlaTrpValThrGluArgAsp)
|
|
|
NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser)
|
rs762543032
|
|
NM_153704.6(TMEM67):c.2522A>C (p.Gln841Pro)
|
rs863225234
|
|
NM_153704.6(TMEM67):c.395G>C (p.Gly132Ala)
|
|
|
NM_153717.3(EVC):c.2152C>T (p.Arg718Trp)
|
|
|
NM_153766.3(KCNJ1):c.197T>A (p.Ile66Asn)
|
|
|
NM_153766.3(KCNJ1):c.211G>T (p.Gly71Trp)
|
|
|
NM_153766.3(KCNJ1):c.575T>G (p.Ile192Ser)
|
|
|
NM_153813.3(ZFPM1):c.1331_1333del (p.Glu444_Pro445delinsAla)
|
rs1912951056
|
|
NM_153816.6(SNX14):c.*14G>T
|
|
|
NM_153816.6(SNX14):c.-18G>C
|
|
|
NM_153816.6(SNX14):c.1075G>T (p.Ala359Ser)
|
rs146849758
|
|
NM_153816.6(SNX14):c.1358T>C (p.Val453Ala)
|
rs1161324670
|
|
NM_170606.3(KMT2C):c.11167G>A (p.Ala3723Thr)
|
rs115580901
|
|
NM_170606.3(KMT2C):c.11248G>T (p.Ala3750Ser)
|
rs747954521
|
|
NM_170606.3(KMT2C):c.11350A>G (p.Lys3784Glu)
|
|
|
NM_170606.3(KMT2C):c.12250A>G (p.Ile4084Val)
|
|
|
NM_170606.3(KMT2C):c.13598G>A (p.Arg4533Gln)
|
|
|
NM_170606.3(KMT2C):c.2573G>T (p.Trp858Leu)
|
rs111493987
|
|
NM_170606.3(KMT2C):c.2578C>T (p.Pro860Ser)
|
rs112515611
|
|
NM_170606.3(KMT2C):c.2671C>A (p.Pro891Thr)
|
rs2095262954
|
|
NM_170606.3(KMT2C):c.56C>G (p.Pro19Arg)
|
|
|
NM_170606.3(KMT2C):c.9979G>A (p.Val3327Ile)
|
rs868100053
|
|
NM_170675.5(MEIS2):c.1061G>A (p.Ser354Asn)
|
|
|
NM_170707.4(LMNA):c.1123G>T (p.Ala375Ser)
|
rs879254162
|
|
NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys)
|
rs766811975
|
|
NM_170707.4(LMNA):c.212G>T (p.Ser71Ile)
|
|
|
NM_170707.4(LMNA):c.397C>T (p.Arg133Trp)
|
|
|
NM_170707.4(LMNA):c.600G>T (p.Met200Ile)
|
|
|
NM_170784.3(MKKS):c.1692T>A (p.Tyr564Ter)
|
rs1284336032
|
|
NM_171998.4(RAB39B):c.313G>A (p.Glu105Lys)
|
|
|
NM_172107.4(KCNQ2):c.1704C>G (p.Ile568Met)
|
rs144909985
|
|
NM_172107.4(KCNQ2):c.2138C>T (p.Pro713Leu)
|
rs750333438
|
|
NM_172107.4(KCNQ2):c.388-4G>T
|
|
|
NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro)
|
rs2123423458
|
|
NM_172201.2(KCNE2):c.79C>A (p.Arg27Ser)
|
rs74315449
|
|
NM_172245.4(CSF2RA):c.1118A>T (p.Glu373Val)
|
rs2083468521
|
|
NM_172250.3(MMAA):c.748G>A (p.Glu250Lys)
|
|
|
NM_173076.3(ABCA12):c.179G>C (p.Arg60Pro)
|
rs762065937
|
|
NM_173076.3(ABCA12):c.3299T>G (p.Met1100Arg)
|
|
|
NM_173076.3(ABCA12):c.400G>T (p.Ala134Ser)
|
rs2106060931
|
|
NM_173076.3(ABCA12):c.4412A>G (p.His1471Arg)
|
|
|
NM_173076.3(ABCA12):c.5363_5372delinsTAAA (p.Glu1788_Ala1791delinsValAsn)
|
|
|
NM_173348.2(FAM149B1):c.1023G>C (p.Pro341=)
|
|
|
NM_173354.5(SIK1):c.1345A>T (p.Arg449Trp)
|
|
|
NM_173354.5(SIK1):c.25G>A (p.Ala9Thr)
|
|
|
NM_173477.5(USH1G):c.1022C>A (p.Ala341Glu)
|
rs762822503
|
|
NM_173483.4(CYP4F22):c.1217C>T (p.Ser406Phe)
|
rs147680222
|
|
NM_173483.4(CYP4F22):c.1352G>A (p.Arg451His)
|
|
|
NM_173495.3(PTCHD1):c.466G>C (p.Val156Leu)
|
rs199597484
|
|
NM_173500.4(TTBK2):c.3273-8C>A
|
|
|
NM_173500.4(TTBK2):c.596G>A (p.Arg199Gln)
|
|
|
NM_173596.3(SLC39A5):c.1559dup (p.Gly521fs)
|
rs776367522
|
|
NM_173602.3(DIP2B):c.692C>G (p.Ser231Ter)
|
|
|
NM_173653.4(SLC9A9):c.1000+4A>T
|
|
|
NM_173660.4:c.(?_*2670)_(*14056_?)del
|
|
|
NM_173660.5(DOK7):c.1501A>C (p.Asn501His)
|
|
|
NM_173660.5(DOK7):c.212A>T (p.Tyr71Phe)
|
rs771583740
|
|
NM_173660.5(DOK7):c.512G>A (p.Gly171Asp)
|
rs1286619522
|
|
NM_173689.7(CRB2):c.2661_2663delinsTTGCTCGGCGCTTGCTCGGCGCCT (p.Ser888delinsCysSerAlaLeuAlaArgArgLeu)
|
|
|
NM_173689.7(CRB2):c.952G>C (p.Gly318Arg)
|
rs759937525
|
|
NM_173791.5(PDZD8):c.2786A>G (p.Asn929Ser)
|
|
|
NM_173849.3(GSC):c.25G>C (p.Asp9His)
|
|
|
NM_173849.3(GSC):c.539A>G (p.Gln180Arg)
|
|
|
NM_174878.3(CLRN1):c.151G>C (p.Gly51Arg)
|
rs752143225
|
|
NM_174889.5(NDUFAF2):c.282_283del (p.His94fs)
|
rs767565052
|
|
NM_174916.3(UBR1):c.1295T>C (p.Ile432Thr)
|
rs1057518231
|
|
NM_174916.3(UBR1):c.3492C>G (p.His1164Gln)
|
rs34803922
|
|
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
|
|
|
NM_174936.4(PCSK9):c.1354+12G>A
|
|
|
NM_174936.4(PCSK9):c.1461_1462del (p.Ser488fs)
|
|
|
NM_174936.4(PCSK9):c.1479del (p.Lys494fs)
|
|
|
NM_174936.4(PCSK9):c.1484G>A (p.Arg495Gln)
|
rs370574590
|
|
NM_174936.4(PCSK9):c.1547G>A (p.Gly516Glu)
|
rs891322948
|
|
NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val)
|
|
|
NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly)
|
rs11583680
|
|
NM_174936.4(PCSK9):c.173A>G (p.His58Arg)
|
rs1644586889
|
|
NM_174936.4(PCSK9):c.1863+18G>T
|
|
|
NM_174936.4(PCSK9):c.399+6C>A
|
|
|
NM_174936.4(PCSK9):c.522C>T (p.Pro174=)
|
rs373018373
|
|
NM_174936.4(PCSK9):c.524-13T>A
|
|
|
NM_174936.4(PCSK9):c.547T>C (p.Tyr183His)
|
|
|
NM_174936.4(PCSK9):c.573T>G (p.Ser191Arg)
|
|
|
NM_174936.4(PCSK9):c.670G>C (p.Asp224His)
|
|
|
NM_174936.4(PCSK9):c.85del (p.Arg29fs)
|
rs1553135406
|
|
NM_175607.3(CNTN4):c.514G>A (p.Val172Ile)
|
|
|
NM_175914.5(HNF4A):c.1303G>A (p.Val435Ile)
|
rs145314165
|
|
NM_175914.5(HNF4A):c.1309C>A (p.Pro437Thr)
|
rs2063853373
|
|
NM_175914.5(HNF4A):c.319+5G>C
|
|
|
NM_175914.5(HNF4A):c.319G>C (p.Ala107Pro)
|
rs2063517684
|
|
NM_175914.5(HNF4A):c.685_686insCCCTCGGCACTGCCCACATTG (p.Ile228_Val229insAlaLeuGlyThrAlaHisIle)
|
|
|
NM_175914.5(HNF4A):c.794C>A (p.Ala265Asp)
|
rs746602886
|
|
NM_175914.5(HNF4A):c.881A>G (p.Gln294Arg)
|
|
|
NM_175914.5(HNF4A):c.932G>A (p.Arg311His)
|
rs1375557127
|
|
NM_177402.5(SYT2):c.1103A>C (p.Asn368Thr)
|
rs2149063983
|
|
NM_177402.5(SYT2):c.751G>A (p.Gly251Ser)
|
|
|
NM_177402.5(SYT2):c.787G>A (p.Gly263Arg)
|
|
|
NM_177402.5(SYT2):c.827C>T (p.Thr276Ile)
|
|
|
NM_177924.5(ASAH1):c.1016T>A (p.Met339Lys)
|
|
|
NM_177924.5(ASAH1):c.644A>T (p.Lys215Ile)
|
|
|
NM_178138.6(LHX3):c.598G>C (p.Val200Leu)
|
|
|
NM_178138.6(LHX3):c.803C>T (p.Pro268Leu)
|
|
|
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter)
|
rs201017122
|
|
NM_181303.2(NLGN3):c.1429C>G (p.Leu477Val)
|
rs2147908332
|
|
NM_181303.2(NLGN3):c.2194C>T (p.Arg732Cys)
|
|
|
NM_181303.2(NLGN3):c.237C>G (p.Ile79Met)
|
|
|
NM_181303.2(NLGN3):c.38G>A (p.Ser13Asn)
|
rs2092376058
|
|
NM_181332.3(NLGN4X):c.70A>G (p.Asn24Asp)
|
|
|
NM_181458.4(PAX3):c.142G>A (p.Gly48Ser)
|
|
|
NM_181458.4(PAX3):c.215T>C (p.Ile72Thr)
|
rs1695340242
|
|
NM_181507.2(HPS5):c.2561+6T>C
|
|
|
NM_181507.2(HPS5):c.2717+6A>G
|
|
|
NM_181507.2(HPS5):c.323G>A (p.Arg108His)
|
rs201664625
|
|
NM_181507.2(HPS5):c.3346A>G (p.Met1116Val)
|
|
|
NM_181523.3(PIK3R1):c.1073G>A (p.Arg358Gln)
|
|
|
NM_181552.4(CUX1):c.1632C>G (p.Ser544Arg)
|
|
|
NM_181552.4(CUX1):c.2753C>A (p.Pro918His)
|
|
|
NM_181552.4(CUX1):c.2907+5G>A
|
|
|
NM_181552.4(CUX1):c.97C>T (p.Arg33Trp)
|
|
|
NM_181783.4(TMTC3):c.2233dup (p.Ile745fs)
|
|
|
NM_182641.4(BPTF):c.342_356del (p.Thr115_Arg119del)
|
|
|
NM_182641.4(BPTF):c.4873G>A (p.Val1625Ile)
|
|
|
NM_182641.4(BPTF):c.5390C>T (p.Ala1797Val)
|
|
|
NM_182710.3(KAT5):c.930G>C (p.Gln310His)
|
|
|
NM_182760.4(SUMF1):c.1029G>T (p.Arg343Ser)
|
|
|
NM_182760.4(SUMF1):c.251G>C (p.Arg84Pro)
|
rs762094231
|
|
NM_182914.3(SYNE2):c.1019A>G (p.Asn340Ser)
|
|
|
NM_182914.3(SYNE2):c.12537A>C (p.Gln4179His)
|
|
|
NM_182914.3(SYNE2):c.1346A>T (p.Asn449Ile)
|
|
|
NM_182914.3(SYNE2):c.2002-18T>G
|
|
|
NM_182914.3(SYNE2):c.590C>T (p.Thr197Ile)
|
|
|
NM_182914.3(SYNE2):c.6135_6136delinsGA (p.Ser2045_Phe2046delinsArgIle)
|
|
|
NM_182914.3(SYNE2):c.7495C>G (p.Gln2499Glu)
|
|
|
NM_182922.4(HEATR3):c.1523A>G (p.His508Arg)
|
|
|
NM_182931.3(KMT2E):c.4309A>G (p.Thr1437Ala)
|
|
|
NM_182943.3(PLOD2):c.2122-2A>G
|
|
|
NM_182943.3(PLOD2):c.2122-8T>A
|
|
|
NM_182943.3(PLOD2):c.2170C>T (p.Arg724Ter)
|
|
|
NM_182943.3(PLOD2):c.437C>G (p.Pro146Arg)
|
rs766267153
|
|
NM_182961.4(SYNE1):c.12226-4C>T
|
|
|
NM_182961.4(SYNE1):c.1343A>G (p.Gln448Arg)
|
|
|
NM_182961.4(SYNE1):c.13825C>A (p.Leu4609Ile)
|
rs2153972296
|
|
NM_182961.4(SYNE1):c.16657A>G (p.Thr5553Ala)
|
|
|
NM_182961.4(SYNE1):c.17545A>G (p.Thr5849Ala)
|
rs2095126393
|
|
NM_182961.4(SYNE1):c.19663C>G (p.Pro6555Ala)
|
|
|
NM_182961.4(SYNE1):c.225G>C (p.Leu75=)
|
|
|
NM_182961.4(SYNE1):c.23999T>C (p.Leu8000Ser)
|
|
|
NM_182961.4(SYNE1):c.281C>T (p.Thr94Met)
|
|
|
NM_182961.4(SYNE1):c.310-13C>T
|
|
|
NM_182961.4(SYNE1):c.4570G>A (p.Ala1524Thr)
|
|
|
NM_182961.4(SYNE1):c.943G>A (p.Glu315Lys)
|
|
|
NM_182978.4(GNAL):c.193C>T (p.Arg65Trp)
|
|
|
NM_182978.4(GNAL):c.249C>G (p.Ala83=)
|
|
|
NM_183050.4(BCKDHB):c.1165A>C (p.Met389Leu)
|
|
|
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu)
|
rs776631396
|
|
NM_183050.4(BCKDHB):c.548G>A (p.Arg183Gln)
|
rs79761867
|
|
NM_183065.4(TMEM107):c.*689A>C
|
rs1400162090
|
|
NM_183075.3(CYP2U1):c.5C>T (p.Ser2Leu)
|
rs550088634
|
|
NM_183357.3(ADCY5):c.1655G>A (p.Arg552Gln)
|
rs2108391289
|
|
NM_183357.3(ADCY5):c.3119T>C (p.Leu1040Pro)
|
rs2108195005
|
|
NM_194248.3(OTOF):c.13A>G (p.Ile5Val)
|
rs745503114
|
|
NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln)
|
rs80356585
|
|
NM_194248.3(OTOF):c.1553G>T (p.Arg518Leu)
|
rs150090360
|
|
NM_194248.3(OTOF):c.2245A>T (p.Ile749Phe)
|
rs781354904
|
|
NM_194248.3(OTOF):c.2765G>T (p.Arg922Leu)
|
|
|
NM_194248.3(OTOF):c.3205T>G (p.Phe1069Val)
|
|
|
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro)
|
rs397515599
|
|
NM_194248.3(OTOF):c.5180G>A (p.Arg1727Gln)
|
|
|
NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp)
|
rs2148018483
|
|
NM_194248.3(OTOF):c.5712+6C>T
|
|
|
NM_194248.3(OTOF):c.5728G>A (p.Glu1910Lys)
|
|
|
NM_194248.3(OTOF):c.5813A>G (p.Asn1938Ser)
|
|
|
NM_194248.3(OTOF):c.5821G>T (p.Asp1941Tyr)
|
rs545842714
|
|
NM_194277.3(FRMD7):c.557T>C (p.Met186Thr)
|
|
|
NM_194323.3(OTOF):c.3678G>T (p.Lys1226Asn)
|
|
|
NM_197968.4(ZMYM2):c.289T>G (p.Ser97Ala)
|
|
|
NM_197968.4(ZMYM2):c.3820+3A>G
|
|
|
NM_197968.4(ZMYM2):c.950C>T (p.Pro317Leu)
|
|
|
NM_198053.3(CD247):c.59-3_59-2del
|
|
|
NM_198129.4(LAMA3):c.5632C>T (p.Arg1878Cys)
|
rs867507379
|
|
NM_198129.4(LAMA3):c.6281C>A (p.Thr2094Asn)
|
rs2145140189
|
|
NM_198129.4(LAMA3):c.6976G>C (p.Glu2326Gln)
|
rs148831718
|
|
NM_198129.4(LAMA3):c.8708+4G>A
|
rs200417639
|
|
NM_198239.2(CCN6):c.1013A>T (p.Gln338Leu)
|
|
|
NM_198239.2(CCN6):c.1024dup (p.Arg342fs)
|
|
|
NM_198241.3(EIF4G1):c.2500A>G (p.Thr834Ala)
|
|
|
NM_198252.3(GSN):c.-9-1986C>T
|
|
|
NM_198407.2(GHSR):c.367A>G (p.Ser123Gly)
|
|
|
NM_198503.5(KCNT2):c.1294+1G>T
|
|
|
NM_198503.5(KCNT2):c.944T>C (p.Met315Thr)
|
|
|
NM_198535.3(ZNF699):c.1891C>T (p.Arg631Ter)
|
|
|
NM_198576.4(AGRN):c.5332G>A (p.Ala1778Thr)
|
rs538792693
|
|
NM_198578.4(LRRK2):c.192_193del (p.Leu65fs)
|
|
|
NM_198578.4(LRRK2):c.4976C>G (p.Ala1659Gly)
|
|
|
NM_198578.4(LRRK2):c.6242A>T (p.Asn2081Ile)
|
|
|
NM_198578.4(LRRK2):c.7182G>C (p.Arg2394Ser)
|
|
|
NM_198681.4(PLEKHG5):c.-164-753T>A
|
|
|
NM_198880.3(QRICH1):c.1441G>A (p.Val481Ile)
|
|
|
NM_198880.3(QRICH1):c.2139-17A>C
|
|
|
NM_198904.4(GABRG2):c.1152+3_1152+9dup
|
|
|
NM_198947.4(FAM111B):c.103_104del (p.His35fs)
|
rs2135403553
|
|
NM_198994.3(TGM6):c.1678+9A>T
|
|
|
NM_198994.3(TGM6):c.1679-11T>C
|
|
|
NM_198994.3(TGM6):c.990-1G>C
|
|
|
NM_199242.3(UNC13D):c.1204C>G (p.Leu402Val)
|
|
|
NM_199242.3(UNC13D):c.1454C>T (p.Pro485Leu)
|
rs550974990
|
|
NM_199242.3(UNC13D):c.1637A>G (p.Asp546Gly)
|
|
|
NM_199242.3(UNC13D):c.2030T>C (p.Ile677Thr)
|
|
|
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
|
|
|
NM_201253.3(CRB1):c.1688G>C (p.Ser563Thr)
|
|
|
NM_201253.3(CRB1):c.1777G>A (p.Ala593Thr)
|
|
|
NM_201253.3(CRB1):c.1885A>G (p.Asn629Asp)
|
|
|
NM_201253.3(CRB1):c.2093G>A (p.Cys698Tyr)
|
|
|
NM_201253.3(CRB1):c.2309G>A (p.Gly770Asp)
|
rs878853365
|
|
NM_201253.3(CRB1):c.2416G>C (p.Glu806Gln)
|
|
|
NM_201253.3(CRB1):c.3520T>G (p.Cys1174Gly)
|
|
|
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)
|
rs1450635782
|
|
NM_201253.3(CRB1):c.3901T>C (p.Cys1301Arg)
|
|
|
NM_201253.3(CRB1):c.936T>G (p.Asn312Lys)
|
|
|
NM_201384.3(PLEC):c.1737+11C>G
|
|
|
NM_201384.3(PLEC):c.5722C>T (p.Arg1908Trp)
|
|
|
NM_201548.5(CERKL):c.1287G>A (p.Met429Ile)
|
rs766319295
|
|
NM_201548.5(CERKL):c.1538+4A>C
|
|
|
NM_201596.3(CACNB2):c.1702G>C (p.Val568Leu)
|
rs142639223
|
|
NM_201596.3(CACNB2):c.1933A>T (p.Lys645Ter)
|
|
|
NM_203447.4(DOCK8):c.230T>C (p.Val77Ala)
|
rs2130293015
|
|
NM_203447.4(DOCK8):c.295G>A (p.Glu99Lys)
|
rs547012088
|
|
NM_203447.4(DOCK8):c.2T>C (p.Met1Thr)
|
rs760902978
|
|
NM_205836.3(FBXO38):c.2519G>C (p.Gly840Ala)
|
|
|
NM_205836.3(FBXO38):c.2580T>A (p.Asn860Lys)
|
|
|
NM_205836.3(FBXO38):c.2683A>C (p.Met895Leu)
|
|
|
NM_205861.3(DHDDS):c.802C>T (p.Gln268Ter)
|
rs1180408059
|
|
NM_205861.3(DHDDS):c.908_941del (p.Ser303fs)
|
|
|
NM_206933.4(USH2A):c.1064T>C (p.Val355Ala)
|
|
|
NM_206933.4(USH2A):c.11824G>A (p.Val3942Ile)
|
rs1659890930
|
|
NM_206933.4(USH2A):c.12088C>G (p.Leu4030Val)
|
rs141528682
|
|
NM_206933.4(USH2A):c.12094G>A (p.Gly4032Arg)
|
rs908265742
|
|
NM_206933.4(USH2A):c.12104C>T (p.Pro4035Leu)
|
|
|
NM_206933.4(USH2A):c.12116A>G (p.Tyr4039Cys)
|
rs1658185167
|
|
NM_206933.4(USH2A):c.12261G>C (p.Trp4087Cys)
|
|
|
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)
|
rs775490668
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NM_206933.4(USH2A):c.13165T>C (p.Tyr4389His)
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rs2102665721
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NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val)
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rs1234273599
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NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg)
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rs372802465
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NM_206933.4(USH2A):c.1346G>T (p.Arg449Leu)
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rs766715882
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NM_206933.4(USH2A):c.13757A>G (p.His4586Arg)
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rs1657913699
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NM_206933.4(USH2A):c.13811+3A>G
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rs760716728
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NM_206933.4(USH2A):c.13894C>T (p.Pro4632Ser)
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NM_206933.4(USH2A):c.14475T>A (p.His4825Gln)
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NM_206933.4(USH2A):c.1468C>T (p.His490Tyr)
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NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu)
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rs1237333884
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NM_206933.4(USH2A):c.15465dup (p.Val5156fs)
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rs769582796
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NM_206933.4(USH2A):c.1644+5G>C
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rs1558036810
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NM_206933.4(USH2A):c.1723T>A (p.Cys575Ser)
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NM_206933.4(USH2A):c.1971+14A>C
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NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
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rs368798834
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NM_206933.4(USH2A):c.3812-3_3837dup
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rs780071028
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NM_206933.4(USH2A):c.3895A>G (p.Ser1299Gly)
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NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
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rs754634823
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NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu)
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rs1230923403
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NM_206933.4(USH2A):c.4385C>T (p.Thr1462Ile)
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rs2034687815
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NM_206933.4(USH2A):c.46G>A (p.Val16Ile)
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NM_206933.4(USH2A):c.506T>C (p.Val169Ala)
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rs2102784093
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NM_206933.4(USH2A):c.5588T>C (p.Met1863Thr)
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NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly)
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rs775803174
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NM_206933.4(USH2A):c.6383G>A (p.Cys2128Tyr)
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NM_206933.4(USH2A):c.6835G>C (p.Asp2279His)
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rs1421761057
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NM_206933.4(USH2A):c.7054C>T (p.Pro2352Ser)
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NM_206933.4(USH2A):c.7234G>A (p.Val2412Met)
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NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser)
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rs1414367127
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NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)
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rs762869685
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NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr)
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rs1553268568
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NM_206933.4(USH2A):c.907C>T (p.Arg303Cys)
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NM_206937.2(LIG4):c.2612G>A (p.Arg871His)
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NM_206965.2(FTCD):c.1373_1375del (p.Val458del)
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NM_206965.2(FTCD):c.1537dup (p.Gln513fs)
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NM_207034.3(EDN3):c.674_675del (p.Pro225fs)
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NM_207037.2(TCF12):c.527-6C>A
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rs936573930
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NM_207037.2(TCF12):c.904A>G (p.Thr302Ala)
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rs775936474
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NM_207346.3(TSEN54):c.285G>C (p.Ala95=)
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NM_207361.6(FREM2):c.5059_5060inv (p.Glu1687Ser)
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NM_207361.6(FREM2):c.5768-17A>G
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rs2137831378
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NM_207361.6(FREM2):c.9007-1G>A
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NM_207361.6(FREM2):c.9019C>T (p.Arg3007Ter)
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NM_207581.4(DUOXA2):c.149G>A (p.Arg50His)
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NM_207581.4(DUOXA2):c.671T>C (p.Leu224Ser)
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NM_207581.4(DUOXA2):c.778_779del (p.Cys260fs)
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rs751628515
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NM_207581.4(DUOXA2):c.78C>G (p.Ile26Met)
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NM_212481.3(ARID5A):c.240_241del (p.His81fs)
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NM_212481.3(ARID5A):c.241_242del (p.His81fs)
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NM_212482.4(FN1):c.2686C>T (p.Gln896Ter)
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NM_212482.4(FN1):c.340C>G (p.Arg114Gly)
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NM_212550.5(BLOC1S3):c.124G>T (p.Gly42Cys)
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NM_212550.5(BLOC1S3):c.437T>A (p.Leu146Gln)
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rs1969484326
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NM_213599.3(ANO5):c.950C>A (p.Ala317Glu)
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NM_213653.4(HJV):c.820G>A (p.Val274Met)
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NM_213720.3(CHCHD10):c.335del (p.Cys112fs)
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rs1926784873
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NR_003051.3(RMRP):n.-20C>T
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rs183974004
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NR_003051.3(RMRP):n.-6G>C
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rs191438045
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NR_003051.3(RMRP):n.157_159delinsCTG
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NR_003051.4(RMRP):n.107C>G
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NR_003051.4(RMRP):n.11T>C
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rs748814304
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NR_003051.4(RMRP):n.144G>A
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rs113967059
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NR_003051.4(RMRP):n.184G>A
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rs1554651153
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NR_003051.4(RMRP):n.19_20insA
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NR_003051.4(RMRP):n.216A>G
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rs886041234
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NR_003051.4(RMRP):n.217G>A
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NR_003051.4(RMRP):n.219C>T
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NR_003051.4(RMRP):n.242A>C
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rs1038523315
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NR_003051.4(RMRP):n.254T>G
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NR_003051.4(RMRP):n.262G>A
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rs769080777
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NR_003051.4(RMRP):n.52C>T
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rs1064793373
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NR_003051.4(RMRP):n.63G>A
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rs544069410
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NR_003051.4(RMRP):n.63G>C
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rs544069410
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NR_003051.4(RMRP):n.87C>T
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rs545284014
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