NM_020975.6(RET):c.3187+47T>C
|
rs2075912
|
0.84041
|
NM_020975.6(RET):c.135A>G (p.Ala45=)
|
rs1800858
|
0.79274
|
NM_020975.6(RET):c.1296A>G (p.Ala432=)
|
rs1800860
|
0.74268
|
NM_020975.6(RET):c.867+48A>G
|
rs2435352
|
0.37996
|
NM_020975.6(RET):c.73+53G>A
|
rs12267460
|
0.37428
|
NM_020975.6(RET):c.337+9G>A
|
rs2435351
|
0.20641
|
NM_020975.6(RET):c.2712C>G (p.Ser904=)
|
rs1800863
|
0.17043
|
NM_020975.6(RET):c.2608-147C>T
|
rs11238441
|
0.17019
|
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)
|
rs1799939
|
0.16640
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_002968.3(SALL1):c.475A>G (p.Ser159Gly)
|
rs13336129
|
0.06797
|
NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01450
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln)
|
rs33978901
|
0.01237
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
NM_000552.5(VWF):c.4196G>A (p.Arg1399His)
|
rs1800382
|
0.00907
|
NM_001966.4(EHHADH):c.910+7C>A
|
rs17283799
|
0.00874
|
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys)
|
rs61735393
|
0.00824
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
NM_001481.3(GAS8):c.833G>A (p.Arg278His)
|
rs117053233
|
0.00781
|
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val)
|
rs547352394
|
0.00722
|
NM_001845.6(COL4A1):c.4640+8G>A
|
rs117566874
|
0.00671
|
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys)
|
rs117603931
|
0.00662
|
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg)
|
rs12735723
|
0.00660
|
NM_000552.5(VWF):c.391G>A (p.Gly131Ser)
|
rs76505074
|
0.00651
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)
|
rs144080386
|
0.00620
|
NM_006231.4(POLE):c.776G>A (p.Arg259His)
|
rs61732929
|
0.00604
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val)
|
rs117064287
|
0.00595
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_016233.2(PADI3):c.335T>A (p.Leu112His)
|
rs142129409
|
0.00502
|
NM_022168.4(IFIH1):c.2807+1G>A
|
rs35732034
|
0.00502
|
NM_001012339.3(DNAJC21):c.1024G>A (p.Val342Met)
|
rs144600070
|
0.00471
|
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro)
|
rs62346982
|
0.00470
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser)
|
rs61750615
|
0.00437
|
NM_014915.3(ANKRD26):c.4445T>C (p.Ile1482Thr)
|
rs80097260
|
0.00437
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_001270974.2(HYDIN):c.131G>A (p.Arg44Gln)
|
rs113448164
|
0.00384
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys)
|
rs115052399
|
0.00370
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met)
|
rs61751302
|
0.00352
|
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser)
|
rs17027133
|
0.00349
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00349
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_001172303.3(MASTL):c.2620G>A (p.Val874Ile)
|
rs138288481
|
0.00338
|
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp)
|
rs115776799
|
0.00334
|
NM_001190787.3(MCIDAS):c.120+3G>A
|
rs186341559
|
0.00332
|
NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln)
|
rs143192349
|
0.00328
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_001555.5(IGSF1):c.668-8G>A
|
rs181264169
|
0.00322
|
NM_023036.6(DNAI2):c.468-4G>T
|
rs146462823
|
0.00321
|
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile)
|
rs150114699
|
0.00307
|
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)
|
rs1801696
|
0.00305
|
NM_000369.5(TSHR):c.881+3A>G
|
rs186091357
|
0.00298
|
NM_001142864.4(PIEZO1):c.3667G>A (p.Val1223Ile)
|
rs185326407
|
0.00296
|
NM_153614.4(DNAJB13):c.671G>A (p.Arg224His)
|
rs147921001
|
0.00296
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
NM_000492.4(CFTR):c.4242+13A>G
|
rs76179227
|
0.00295
|
NM_006231.4(POLE):c.16G>C (p.Gly6Arg)
|
rs202220778
|
0.00293
|
NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val)
|
rs142747281
|
0.00288
|
NM_032043.3(BRIP1):c.*128A>G
|
rs150444311
|
0.00277
|
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=)
|
rs151278626
|
0.00268
|
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met)
|
rs61731903
|
0.00262
|
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile)
|
rs72650663
|
0.00253
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile)
|
rs74317375
|
0.00227
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_198576.4(AGRN):c.1394C>T (p.Pro465Leu)
|
rs116586548
|
0.00216
|
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser)
|
rs139968311
|
0.00213
|
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser)
|
rs142021049
|
0.00211
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
NM_001270974.2(HYDIN):c.14857C>T (p.Arg4953Trp)
|
rs79607350
|
0.00208
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)
|
rs183885357
|
0.00200
|
NM_016292.3(TRAP1):c.2053G>A (p.Asp685Asn)
|
rs61756352
|
0.00195
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn)
|
rs3821945
|
0.00185
|
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)
|
rs141168110
|
0.00184
|
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys)
|
rs185788586
|
0.00182
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_001372.4(DNAH9):c.12640G>T (p.Gly4214Cys)
|
rs144547132
|
0.00180
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly)
|
rs121908854
|
0.00163
|
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)
|
rs149871493
|
0.00162
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00158
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00155
|
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val)
|
rs139640224
|
0.00154
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)
|
rs56158747
|
0.00150
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_001089.3(ABCA3):c.839G>A (p.Arg280His)
|
rs143008553
|
0.00141
|
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys)
|
rs41304587
|
0.00141
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_014915.3(ANKRD26):c.2170A>C (p.Ser724Arg)
|
rs141748831
|
0.00136
|
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu)
|
rs547116063
|
0.00131
|
NM_018076.5(ODAD2):c.883G>C (p.Val295Leu)
|
rs143215183
|
0.00128
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)
|
rs146384562
|
0.00124
|
NM_019616.4(F7):c.785G>A (p.Arg262Gln)
|
rs77121822
|
0.00118
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_001270974.2(HYDIN):c.11047C>T (p.Arg3683Trp)
|
rs200260585
|
0.00102
|
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)
|
rs137852987
|
0.00102
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_001770.6(CD19):c.1274C>T (p.Ser425Phe)
|
rs142818579
|
0.00099
|
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)
|
rs120074160
|
0.00099
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)
|
rs74315329
|
0.00089
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00088
|
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)
|
rs139382267
|
0.00083
|
NM_194318.4(B3GLCT):c.660+1G>A
|
rs80338851
|
0.00083
|
NM_000174.5(GP9):c.182A>G (p.Asn61Ser)
|
rs5030764
|
0.00076
|
NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly)
|
rs150629342
|
0.00072
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
NM_002303.6(LEPR):c.2260G>A (p.Val754Met)
|
rs150936702
|
0.00071
|
NM_003235.5(TG):c.229G>A (p.Gly77Ser)
|
rs142698837
|
0.00071
|
NM_001277115.2(DNAH11):c.9110A>G (p.His3037Arg)
|
rs192327380
|
0.00070
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_031471.6(FERMT3):c.332G>A (p.Arg111His)
|
rs145419469
|
0.00068
|
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys)
|
rs142626656
|
0.00067
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_000433.4(NCF2):c.1179-4C>G
|
rs55795842
|
0.00066
|
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)
|
rs202080221
|
0.00066
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)
|
rs143994166
|
0.00064
|
NM_002772.3(TMPRSS15):c.2135C>G (p.Ser712Ter)
|
rs77200626
|
0.00064
|
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)
|
rs28897693
|
0.00064
|
NM_000384.3(APOB):c.2630C>T (p.Pro877Leu)
|
rs12714097
|
0.00063
|
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)
|
rs150233690
|
0.00062
|
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)
|
rs28897677
|
0.00060
|
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)
|
rs147499872
|
0.00059
|
NM_024529.5(CDC73):c.-11G>A
|
rs80356643
|
0.00056
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs)
|
rs772106076
|
0.00053
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe)
|
rs527297896
|
0.00049
|
NM_001277115.2(DNAH11):c.8888C>A (p.Ser2963Tyr)
|
rs374033085
|
0.00047
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu)
|
rs145431028
|
0.00046
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)
|
rs376808313
|
0.00045
|
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu)
|
rs139644798
|
0.00044
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp)
|
rs201201843
|
0.00039
|
NM_000552.5(VWF):c.8084C>G (p.Pro2695Arg)
|
rs76459136
|
0.00038
|
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)
|
rs62637014
|
0.00038
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)
|
rs121908171
|
0.00037
|
NM_001626.6(AKT2):c.347G>C (p.Gly116Ala)
|
rs141209878
|
0.00036
|
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_001270508.2(TNFAIP3):c.322A>G (p.Thr108Ala)
|
rs376205580
|
0.00033
|
NM_001270508.2(TNFAIP3):c.295+8T>C
|
rs370813134
|
0.00032
|
NM_004371.4(COPA):c.2531G>A (p.Gly844Asp)
|
rs143115096
|
0.00032
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu)
|
rs149133229
|
0.00031
|
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
|
rs138249161
|
0.00031
|
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)
|
rs121913016
|
0.00030
|
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)
|
rs200691042
|
0.00030
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)
|
rs144564120
|
0.00029
|
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)
|
rs104894493
|
0.00029
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His)
|
rs113994049
|
0.00027
|
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu)
|
rs28897688
|
0.00027
|
NM_000312.4(PROC):c.565C>T (p.Arg189Trp)
|
rs146922325
|
0.00026
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)
|
rs146347092
|
0.00026
|
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)
|
rs121964962
|
0.00025
|
NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys)
|
rs28931603
|
0.00025
|
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)
|
rs148123430
|
0.00025
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs)
|
rs72549380
|
0.00024
|
NM_001277115.2(DNAH11):c.3853-5C>G
|
rs367628980
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_213607.3(CCDC103):c.31G>C (p.Ala11Pro)
|
rs146015856
|
0.00024
|
NM_000369.5(TSHR):c.1349G>A (p.Arg450His)
|
rs189261858
|
0.00023
|
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)
|
rs28897755
|
0.00022
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)
|
rs139901585
|
0.00022
|
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg)
|
rs28937879
|
0.00022
|
NM_030773.4(TUBB1):c.578T>C (p.Ile193Thr)
|
rs141698221
|
0.00022
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
NM_006118.4(HAX1):c.15T>A (p.Asp5Glu)
|
rs201078819
|
0.00021
|
NM_014915.3(ANKRD26):c.3G>A (p.Met1Ile)
|
rs199683454
|
0.00021
|
NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu)
|
rs377594629
|
0.00021
|
NM_198075.4(LRRC56):c.53_55del (p.Val18_Arg19delinsGly)
|
rs759014538
|
0.00021
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000132.4(F8):c.1018G>A (p.Glu340Lys)
|
rs781954986
|
0.00019
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
NM_001277115.2(DNAH11):c.982+8T>A
|
rs72655978
|
0.00019
|
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter)
|
rs142859678
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_000132.4(F8):c.396A>C (p.Glu132Asp)
|
rs137852388
|
0.00018
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)
|
rs111033773
|
0.00017
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000558.5(HBA1):c.96-1G>A
|
rs34883113
|
0.00017
|
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val)
|
rs150923481
|
0.00016
|
NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu)
|
rs117803903
|
0.00016
|
NM_004963.4(GUCY2C):c.2384G>A (p.Arg795Lys)
|
rs147296490
|
0.00016
|
NM_007259.5(VPS45):c.1701G>A (p.Ala567=)
|
rs377365764
|
0.00016
|
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)
|
rs80357201
|
0.00016
|
NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile)
|
rs200701665
|
0.00016
|
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)
|
rs183489969
|
0.00016
|
NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp)
|
rs376165374
|
0.00016
|
NM_003978.5(PSTPIP1):c.355-16C>G
|
rs767272289
|
0.00015
|
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn)
|
rs200557537
|
0.00014
|
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)
|
rs147320363
|
0.00014
|
NM_000546.6(TP53):c.869G>A (p.Arg290His)
|
rs55819519
|
0.00014
|
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)
|
rs61751286
|
0.00014
|
NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp)
|
rs766496010
|
0.00014
|
NM_001369.3(DNAH5):c.3315C>A (p.Asn1105Lys)
|
rs144053917
|
0.00014
|
NM_001972.4(ELANE):c.490G>C (p.Gly164Arg)
|
rs112990855
|
0.00014
|
NM_002661.5(PLCG2):c.2055-7G>A
|
rs373933998
|
0.00014
|
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)
|
rs150283105
|
0.00014
|
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
|
rs147219360
|
0.00014
|
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)
|
rs199840367
|
0.00014
|
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val)
|
rs80358589
|
0.00013
|
NM_000174.5(GP9):c.290G>A (p.Arg97His)
|
rs146025958
|
0.00013
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_001270508.2(TNFAIP3):c.619A>C (p.Ile207Leu)
|
rs141807543
|
0.00013
|
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)
|
rs120074167
|
0.00013
|
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp)
|
rs121964845
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
rs56172926
|
0.00011
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln)
|
rs368114790
|
0.00011
|
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met)
|
rs148716935
|
0.00011
|
NM_020975.6(RET):c.2556C>G (p.Ile852Met)
|
rs377767426
|
0.00011
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp)
|
rs574039421
|
0.00010
|
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro)
|
rs112282456
|
0.00010
|
NM_000132.4(F8):c.1337G>A (p.Arg446Gln)
|
rs781889613
|
0.00010
|
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe)
|
rs61749664
|
0.00010
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)
|
rs372731424
|
0.00010
|
NM_001367823.1(ARHGEF18):c.1769T>G (p.Leu590Arg)
|
rs188811081
|
0.00010
|
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)
|
rs150419186
|
0.00010
|
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe)
|
rs144405450
|
0.00010
|
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)
|
rs121908177
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_000017.4(ACADS):c.1108A>G (p.Met370Val)
|
rs566325901
|
0.00009
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00009
|
NM_000251.3(MSH2):c.1276+11A>G
|
rs189015988
|
0.00009
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_001206744.2(TPO):c.650A>G (p.Asn217Ser)
|
rs148683218
|
0.00009
|
NM_001375834.1(WIPF1):c.122G>A (p.Ser41Asn)
|
rs141730361
|
0.00009
|
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys)
|
rs201765587
|
0.00009
|
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp)
|
rs776893978
|
0.00009
|
NM_007118.4(TRIO):c.8824C>G (p.Gln2942Glu)
|
rs377248579
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)
|
rs80338694
|
0.00009
|
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)
|
rs56010818
|
0.00008
|
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)
|
rs62508646
|
0.00008
|
NM_000359.3(TGM1):c.420A>G (p.Ile140Met)
|
rs139208806
|
0.00008
|
NM_000419.5(ITGA2B):c.2198C>T (p.Ala733Val)
|
rs201042087
|
0.00008
|
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)
|
rs148038173
|
0.00008
|
NM_001379451.1(BCORL1):c.2365C>T (p.Arg789Cys)
|
rs371862075
|
0.00008
|
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr)
|
rs147409760
|
0.00008
|
NM_006949.4(STXBP2):c.1136G>A (p.Gly379Glu)
|
rs778792433
|
0.00008
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
NM_018076.5(ODAD2):c.2120G>A (p.Arg707Gln)
|
rs139517333
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)
|
rs121918002
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_000552.5(VWF):c.658-3C>A
|
rs377196768
|
0.00007
|
NM_001364171.2(ODAD1):c.1502+5G>A
|
rs201133219
|
0.00007
|
NM_003482.4(KMT2D):c.12862C>T (p.Arg4288Trp)
|
rs542331667
|
0.00007
|
NM_031220.4(PITPNM3):c.287G>A (p.Arg96Gln)
|
rs199749069
|
0.00007
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys)
|
rs80338782
|
0.00006
|
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)
|
rs111033728
|
0.00006
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)
|
rs779339230
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000257.4(MYH7):c.4210G>A (p.Val1404Met)
|
rs371552806
|
0.00006
|
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)
|
rs764605140
|
0.00006
|
NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp)
|
rs373804267
|
0.00006
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp)
|
rs367707092
|
0.00006
|
NM_000478.6(ALPL):c.407G>A (p.Arg136His)
|
rs121918011
|
0.00006
|
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)
|
rs41464951
|
0.00006
|
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)
|
rs121918593
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_001256789.3(CACNA1F):c.4886A>C (p.Glu1629Ala)
|
rs376524533
|
0.00006
|
NM_003482.4(KMT2D):c.11347C>G (p.Gln3783Glu)
|
rs752477959
|
0.00006
|
NM_004562.3(PRKN):c.744C>G (p.Val248=)
|
rs771437898
|
0.00006
|
NM_004667.6(HERC2):c.2627C>T (p.Ala876Val)
|
rs149493788
|
0.00006
|
NM_005026.5(PIK3CD):c.1379G>A (p.Arg460His)
|
rs373779625
|
0.00006
|
NM_006922.4(SCN3A):c.5881A>T (p.Ser1961Cys)
|
rs184544899
|
0.00006
|
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His)
|
rs55746541
|
0.00006
|
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser)
|
rs775057827
|
0.00006
|
NM_016816.4(OAS1):c.523G>A (p.Glu175Lys)
|
rs148820389
|
0.00006
|
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=)
|
rs45565738
|
0.00006
|
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)
|
rs141263564
|
0.00006
|
NM_030665.4(RAI1):c.1882G>A (p.Glu628Lys)
|
rs371291565
|
0.00006
|
NM_000059.4(BRCA2):c.750G>A (p.Val250=)
|
rs143214959
|
0.00005
|
NM_000132.4(F8):c.2150G>A (p.Arg717Gln)
|
rs942909873
|
0.00005
|
NM_000256.3(MYBPC3):c.3123C>T (p.Gly1041=)
|
rs374626656
|
0.00005
|
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser)
|
rs773929129
|
0.00005
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg)
|
rs137852765
|
0.00005
|
NM_004183.4(BEST1):c.1552G>T (p.Glu518Ter)
|
rs370835731
|
0.00005
|
NM_032119.4(ADGRV1):c.13340G>A (p.Gly4447Asp)
|
rs532839486
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)
|
rs80359505
|
0.00004
|
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)
|
rs80358927
|
0.00004
|
NM_000133.4(F9):c.316G>A (p.Gly106Ser)
|
rs137852233
|
0.00004
|
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)
|
rs61749668
|
0.00004
|
NM_000237.3(LPL):c.272G>A (p.Trp91Ter)
|
rs118204070
|
0.00004
|
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His)
|
rs776613953
|
0.00004
|
NM_000392.5(ABCC2):c.577-3C>T
|
rs370534491
|
0.00004
|
NM_000517.6(HBA2):c.143del (p.Asp48fs)
|
rs281864539
|
0.00004
|
NM_000552.5(VWF):c.2878C>T (p.Arg960Trp)
|
rs370984712
|
0.00004
|
NM_000552.5(VWF):c.7987C>T (p.Arg2663Cys)
|
rs370662678
|
0.00004
|
NM_001005242.3(PKP2):c.2357+1G>A
|
rs111517471
|
0.00004
|
NM_001256789.3(CACNA1F):c.5863G>A (p.Asp1955Asn)
|
rs376042913
|
0.00004
|
NM_001277115.2(DNAH11):c.698C>T (p.Pro233Leu)
|
rs776376992
|
0.00004
|
NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter)
|
rs374340059
|
0.00004
|
NM_002473.6(MYH9):c.4150G>C (p.Glu1384Gln)
|
rs200616409
|
0.00004
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys)
|
rs376198883
|
0.00004
|
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp)
|
rs371723224
|
0.00004
|
NM_006231.4(POLE):c.5653G>A (p.Ala1885Thr)
|
rs748008084
|
0.00004
|
NM_006545.5(NPRL2):c.1004G>A (p.Arg335Gln)
|
rs758322982
|
0.00004
|
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)
|
rs730881700
|
0.00004
|
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val)
|
rs144770680
|
0.00004
|
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg)
|
rs761602495
|
0.00004
|
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter)
|
rs199422185
|
0.00004
|
NM_021738.3(SVIL):c.1783G>A (p.Ala595Thr)
|
rs763112940
|
0.00004
|
NM_022436.3(ABCG5):c.-76C>T
|
rs560839317
|
0.00004
|
NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter)
|
rs140111105
|
0.00004
|
NM_032043.3(BRIP1):c.400C>A (p.Leu134Met)
|
rs876658195
|
0.00004
|
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro)
|
rs28940285
|
0.00004
|
NM_054012.4(ASS1):c.352G>A (p.Ala118Thr)
|
rs775305020
|
0.00004
|
NM_130810.4(DNAAF4):c.1241A>C (p.Gln414Pro)
|
rs148152687
|
0.00004
|
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)
|
rs120074151
|
0.00004
|
NM_181426.2(CCDC39):c.1960G>A (p.Gly654Arg)
|
rs371143749
|
0.00004
|
NM_182914.3(SYNE2):c.15130C>T (p.Leu5044Phe)
|
rs551007724
|
0.00004
|
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs)
|
rs80359395
|
0.00003
|
NM_000059.4(BRCA2):c.6929C>A (p.Thr2310Asn)
|
rs276174886
|
0.00003
|
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)
|
rs61748556
|
0.00003
|
NM_000358.3(TGFBI):c.371G>A (p.Arg124His)
|
rs121909211
|
0.00003
|
NM_000387.6(SLC25A20):c.199-10T>G
|
rs541208710
|
0.00003
|
NM_000388.4(CASR):c.566A>G (p.Asn189Ser)
|
rs762998933
|
0.00003
|
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg)
|
rs151187317
|
0.00003
|
NM_000518.5(HBB):c.-31C>T
|
rs63750628
|
0.00003
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
NM_000546.6(TP53):c.467G>A (p.Arg156His)
|
rs371524413
|
0.00003
|
NM_000719.7(CACNA1C):c.1520G>A (p.Arg507His)
|
rs768830617
|
0.00003
|
NM_001080517.3(SETD5):c.4159C>T (p.Arg1387Trp)
|
rs560529972
|
0.00003
|
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln)
|
rs201951824
|
0.00003
|
NM_001244008.2(KIF1A):c.2798C>T (p.Ala933Val)
|
rs760841799
|
0.00003
|
NM_001277115.2(DNAH11):c.12460C>T (p.Arg4154Cys)
|
rs755743542
|
0.00003
|
NM_001291415.2(KDM6A):c.2180G>A (p.Gly727Asp)
|
rs759576784
|
0.00003
|
NM_002470.4(MYH3):c.3448C>T (p.Arg1150Trp)
|
rs755833851
|
0.00003
|
NM_004006.3(DMD):c.1812+1G>A
|
rs373286166
|
0.00003
|
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys)
|
rs886041141
|
0.00003
|
NM_004817.4(TJP2):c.428T>C (p.Met143Thr)
|
rs1011824757
|
0.00003
|
NM_005026.5(PIK3CD):c.1470+15C>T
|
rs375880685
|
0.00003
|
NM_006269.2(RP1):c.6225A>C (p.Arg2075Ser)
|
rs756000109
|
0.00003
|
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile)
|
rs80357273
|
0.00003
|
NM_013275.6(ANKRD11):c.2216C>T (p.Ser739Leu)
|
rs146294483
|
0.00003
|
NM_015488.5(PNKD):c.932G>A (p.Arg311Gln)
|
rs61745358
|
0.00003
|
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)
|
rs201266016
|
0.00003
|
NM_015629.4(PRPF31):c.528G>A (p.Gly176=)
|
rs368977441
|
0.00003
|
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly)
|
rs121917822
|
0.00003
|
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)
|
rs200116631
|
0.00003
|
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser)
|
rs367578415
|
0.00003
|
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=)
|
rs188258913
|
0.00003
|
NM_144573.4(NEXN):c.1053+1G>A
|
rs397517843
|
0.00003
|
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)
|
rs138058572
|
0.00002
|
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg)
|
rs80358799
|
0.00002
|
NM_000059.4(BRCA2):c.6683T>C (p.Val2228Ala)
|
rs80358894
|
0.00002
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg)
|
rs755961411
|
0.00002
|
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)
|
rs137852435
|
0.00002
|
NM_000132.4(F8):c.5123G>A (p.Arg1708His)
|
rs111033614
|
0.00002
|
NM_000146.4(FTL):c.89C>T (p.Thr30Ile)
|
rs397514540
|
0.00002
|
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000195.5(HPS1):c.1857+2T>C
|
rs374689398
|
0.00002
|
NM_000218.3(KCNQ1):c.187C>T (p.Pro63Ser)
|
rs1280717988
|
0.00002
|
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)
|
rs782539587
|
0.00002
|
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)
|
rs368088025
|
0.00002
|
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)
|
rs145961131
|
0.00002
|
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu)
|
rs747076316
|
0.00002
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
NM_000552.5(VWF):c.3159G>T (p.Gln1053His)
|
rs61748496
|
0.00002
|
NM_001042492.3(NF1):c.8073T>G (p.His2691Gln)
|
rs375468032
|
0.00002
|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00002
|
NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His)
|
rs781959191
|
0.00002
|
NM_001128126.3(AP4S1):c.295-3C>A
|
rs185246578
|
0.00002
|
NM_001277115.2(DNAH11):c.10264G>A (p.Gly3422Arg)
|
rs764509824
|
0.00002
|
NM_001458.5(FLNC):c.5156G>A (p.Arg1719His)
|
rs746777092
|
0.00002
|
NM_001844.5(COL2A1):c.446G>A (p.Arg149His)
|
rs763538232
|
0.00002
|
NM_002878.4(RAD51D):c.872G>A (p.Arg291His)
|
rs150134822
|
0.00002
|
NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln)
|
rs920721092
|
0.00002
|
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)
|
rs1126568
|
0.00002
|
NM_004958.4(MTOR):c.5890A>G (p.Ile1964Val)
|
rs759436987
|
0.00002
|
NM_006767.4(LZTR1):c.2326-6T>C
|
rs199965510
|
0.00002
|
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)
|
rs575910805
|
0.00002
|
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)
|
rs587780194
|
0.00002
|
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val)
|
rs199506378
|
0.00002
|
NM_021147.5(CCNO):c.265C>G (p.Pro89Ala)
|
rs764171316
|
0.00002
|
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg)
|
rs758657734
|
0.00002
|
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter)
|
rs372632599
|
0.00002
|
NM_032444.4(SLX4):c.4739+7G>A
|
rs748897456
|
0.00002
|
NM_144687.4(NLRP12):c.1754C>T (p.Pro585Leu)
|
rs569411184
|
0.00002
|
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)
|
rs397517979
|
0.00002
|
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)
|
rs765476745
|
0.00002
|
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)
|
rs113994170
|
0.00001
|
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln)
|
rs1085307426
|
0.00001
|
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)
|
rs121909288
|
0.00001
|
NM_000033.4(ABCD1):c.692G>A (p.Arg231Gln)
|
rs782143050
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)
|
rs371638537
|
0.00001
|
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly)
|
rs80358389
|
0.00001
|
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg)
|
rs80358417
|
0.00001
|
NM_000059.4(BRCA2):c.3644G>A (p.Gly1215Glu)
|
rs773442698
|
0.00001
|
NM_000059.4(BRCA2):c.4716C>G (p.Ala1572=)
|
rs1057521370
|
0.00001
|
NM_000059.4(BRCA2):c.6287C>G (p.Pro2096Arg)
|
rs587781396
|
0.00001
|
NM_000059.4(BRCA2):c.632-44A>C
|
rs367719443
|
0.00001
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter)
|
rs80359003
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys)
|
rs41293517
|
0.00001
|
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs)
|
rs80359718
|
0.00001
|
NM_000059.4(BRCA2):c.909T>G (p.Ser303=)
|
rs757430441
|
0.00001
|
NM_000128.4(F11):c.965C>T (p.Thr322Ile)
|
rs281875269
|
0.00001
|
NM_000132.4(F8):c.1573G>A (p.Gly525Arg)
|
rs1357976820
|
0.00001
|
NM_000132.4(F8):c.1649G>A (p.Arg550His)
|
rs137852418
|
0.00001
|
NM_000132.4(F8):c.1834C>T (p.Arg612Cys)
|
rs137852428
|
0.00001
|
NM_000132.4(F8):c.456C>G (p.Ser152Arg)
|
rs781912033
|
0.00001
|
NM_000132.4(F8):c.493C>T (p.Pro165Ser)
|
rs137852393
|
0.00001
|
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys)
|
rs1046670041
|
0.00001
|
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln)
|
rs1490417405
|
0.00001
|
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys)
|
rs137852459
|
0.00001
|
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys)
|
rs137852473
|
0.00001
|
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln)
|
rs137852360
|
0.00001
|
NM_000133.4(F9):c.571C>T (p.Arg191Cys)
|
rs137852237
|
0.00001
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
NM_000143.4(FH):c.301C>T (p.Arg101Ter)
|
rs121913120
|
0.00001
|
NM_000152.5(GAA):c.1222A>G (p.Met408Val)
|
rs560575383
|
0.00001
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)
|
rs587779227
|
0.00001
|
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)
|
rs63749999
|
0.00001
|
NM_000186.4(CFH):c.496C>T (p.Arg166Trp)
|
rs746222626
|
0.00001
|
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu)
|
rs199472730
|
0.00001
|
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)
|
rs104895128
|
0.00001
|
NM_000249.4(MLH1):c.29G>A (p.Arg10Gln)
|
rs777971423
|
0.00001
|
NM_000249.4(MLH1):c.454G>A (p.Val152Met)
|
rs748417604
|
0.00001
|
NM_000251.3(MSH2):c.1270C>T (p.His424Tyr)
|
rs587782278
|
0.00001
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
NM_000256.3(MYBPC3):c.1227-13G>A
|
rs397515893
|
0.00001
|
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)
|
rs397515990
|
0.00001
|
NM_000257.4(MYH7):c.4787C>T (p.Ser1596Leu)
|
rs774540446
|
0.00001
|
NM_000257.4(MYH7):c.821T>C (p.Ile274Thr)
|
rs773456019
|
0.00001
|
NM_000257.4(MYH7):c.853A>G (p.Ile285Val)
|
rs748692506
|
0.00001
|
NM_000261.2(MYOC):c.1288T>C (p.Phe430Leu)
|
rs1652914106
|
0.00001
|
NM_000312.4(PROC):c.962C>T (p.Pro321Leu)
|
rs1321566264
|
0.00001
|
NM_000313.4(PROS1):c.1832T>C (p.Met611Thr)
|
rs750531364
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)
|
rs104894280
|
0.00001
|
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His)
|
rs199473172
|
0.00001
|
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)
|
rs45546039
|
0.00001
|
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)
|
rs61751398
|
0.00001
|
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)
|
rs62646861
|
0.00001
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys)
|
rs121909210
|
0.00001
|
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter)
|
rs886041637
|
0.00001
|
NM_000394.4(CRYAA):c.62G>A (p.Arg21Gln)
|
rs397515626
|
0.00001
|
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys)
|
rs543277216
|
0.00001
|
NM_000435.3(NOTCH3):c.2054C>T (p.Pro685Leu)
|
rs768867865
|
0.00001
|
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)
|
rs28933697
|
0.00001
|
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)
|
rs377160065
|
0.00001
|
NM_000478.6(ALPL):c.331G>A (p.Ala111Thr)
|
rs773257111
|
0.00001
|
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp)
|
rs121909571
|
0.00001
|
NM_000494.4(COL17A1):c.3156C>T (p.Gly1052=)
|
rs760714959
|
0.00001
|
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)
|
rs398123438
|
0.00001
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)
|
rs118192168
|
0.00001
|
NM_000540.3(RYR1):c.8254G>T (p.Asp2752Tyr)
|
rs768299986
|
0.00001
|
NM_000551.4(VHL):c.373C>T (p.His125Tyr)
|
rs375401722
|
0.00001
|
NM_000552.5(VWF):c.100C>T (p.Arg34Ter)
|
rs61753984
|
0.00001
|
NM_000552.5(VWF):c.3944G>A (p.Arg1315His)
|
rs61749396
|
0.00001
|
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser)
|
rs61749398
|
0.00001
|
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys)
|
rs61750074
|
0.00001
|
NM_000552.5(VWF):c.4384C>G (p.Pro1462Ala)
|
rs61750090
|
0.00001
|
NM_000552.5(VWF):c.4690C>T (p.Arg1564Trp)
|
rs370854023
|
0.00001
|
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter)
|
rs61750606
|
0.00001
|
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter)
|
rs61750612
|
0.00001
|
NM_001018005.2(TPM1):c.82G>C (p.Asp28His)
|
rs397516391
|
0.00001
|
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter)
|
rs374328858
|
0.00001
|
NM_001039591.3(USP9X):c.3382A>T (p.Ser1128Cys)
|
rs1274391019
|
0.00001
|
NM_001042681.2(RERE):c.43C>T (p.Arg15Trp)
|
rs1244831205
|
0.00001
|
NM_001083614.2(EARS2):c.320G>A (p.Arg107His)
|
rs1021330566
|
0.00001
|
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)
|
rs104894415
|
0.00001
|
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val)
|
rs377630829
|
0.00001
|
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)
|
rs267607004
|
0.00001
|
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs)
|
rs1490309743
|
0.00001
|
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter)
|
rs541024038
|
0.00001
|
NM_001244008.2(KIF1A):c.4256+5G>A
|
rs762550114
|
0.00001
|
NM_001252024.2(TRPM1):c.3007G>A (p.Gly1003Arg)
|
rs769138762
|
0.00001
|
NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu)
|
rs763252801
|
0.00001
|
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter)
|
rs794729300
|
0.00001
|
NM_001276345.2(TNNT2):c.145G>A (p.Glu49Lys)
|
rs757526942
|
0.00001
|
NM_001288705.3(CSF1R):c.2179A>G (p.Arg727Gly)
|
rs1757281675
|
0.00001
|
NM_001330360.2(POLA1):c.463-9C>T
|
rs778776585
|
0.00001
|
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)
|
rs80338855
|
0.00001
|
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp)
|
rs863224810
|
0.00001
|
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter)
|
rs886040888
|
0.00001
|
NM_001394062.1(MACF1):c.19053A>T (p.Arg6351Ser)
|
rs1306003144
|
0.00001
|
NM_001458.5(FLNC):c.2263C>T (p.Arg755Trp)
|
rs990718751
|
0.00001
|
NM_001458.5(FLNC):c.5191C>T (p.His1731Tyr)
|
rs1255727604
|
0.00001
|
NM_001556.3(IKBKB):c.230G>A (p.Arg77Gln)
|
rs200136227
|
0.00001
|
NM_001844.5(COL2A1):c.968T>A (p.Met323Lys)
|
rs1380248932
|
0.00001
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
NM_002691.4(POLD1):c.85C>T (p.Pro29Ser)
|
rs750303995
|
0.00001
|
NM_002742.3(PRKD1):c.2626C>T (p.Gln876Ter)
|
rs1479389213
|
0.00001
|
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)
|
rs397507504
|
0.00001
|
NM_002878.4(RAD51D):c.491T>C (p.Leu164Pro)
|
rs769287847
|
0.00001
|
NM_002878.4(RAD51D):c.824G>A (p.Arg275Gln)
|
rs368914740
|
0.00001
|
NM_002968.3(SALL1):c.1778G>A (p.Ser593Asn)
|
rs748432190
|
0.00001
|
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
0.00001
|
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)
|
rs200245469
|
0.00001
|
NM_003000.3(SDHB):c.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
NM_003238.6(TGFB2):c.236A>G (p.Gln79Arg)
|
rs371241859
|
0.00001
|
NM_003239.5(TGFB3):c.443G>A (p.Arg148Gln)
|
rs776388495
|
0.00001
|
NM_003466.4(PAX8):c.1226C>G (p.Pro409Arg)
|
rs369313070
|
0.00001
|
NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro)
|
rs1433477205
|
0.00001
|
NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys)
|
rs201327438
|
0.00001
|
NM_004370.6(COL12A1):c.6080G>A (p.Gly2027Glu)
|
rs780058273
|
0.00001
|
NM_004562.3(PRKN):c.904C>T (p.His302Tyr)
|
rs755749488
|
0.00001
|
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys)
|
rs560525099
|
0.00001
|
NM_005055.5(RAPSN):c.538G>A (p.Glu180Lys)
|
rs1452482859
|
0.00001
|
NM_005159.5(ACTC1):c.967G>A (p.Ala323Thr)
|
rs771011464
|
0.00001
|
NM_005208.5(CRYBA1):c.215+1G>A
|
rs1264025914
|
0.00001
|
NM_006306.4(SMC1A):c.2345G>A (p.Arg782Gln)
|
rs782733394
|
0.00001
|
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs)
|
rs1460026299
|
0.00001
|
NM_006767.4(LZTR1):c.1785+1G>A
|
rs145594158
|
0.00001
|
NM_006767.4(LZTR1):c.361C>T (p.His121Tyr)
|
rs1569154492
|
0.00001
|
NM_007078.3(LDB3):c.655C>T (p.Arg219Ter)
|
rs727503123
|
0.00001
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
0.00001
|
NM_007194.4(CHEK2):c.444+4G>A
|
rs1434760802
|
0.00001
|
NM_007294.4(BRCA1):c.2497T>C (p.Leu833=)
|
rs887578121
|
0.00001
|
NM_007294.4(BRCA1):c.465A>T (p.Gln155His)
|
rs864622260
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.514del (p.Gln172fs)
|
rs80357872
|
0.00001
|
NM_007317.3(KIF22):c.1387A>G (p.Thr463Ala)
|
rs757545358
|
0.00001
|
NM_007325.5(GRIA3):c.424C>T (p.Arg142Cys)
|
rs775540855
|
0.00001
|
NM_013319.3(UBIAD1):c.718G>A (p.Asp240Asn)
|
rs371811409
|
0.00001
|
NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter)
|
rs992128517
|
0.00001
|
NM_015512.5(DNAH1):c.5347C>T (p.Arg1783Trp)
|
rs759947620
|
0.00001
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00001
|
NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter)
|
rs759960319
|
0.00001
|
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)
|
rs765443042
|
0.00001
|
NM_017654.4(SAMD9):c.2581_2582insT (p.Glu861fs)
|
rs763398021
|
0.00001
|
NM_017802.4(DNAAF5):c.758G>A (p.Arg253Gln)
|
rs545123585
|
0.00001
|
NM_018075.5(ANO10):c.1219-1G>T
|
rs1318561721
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_019616.4(F7):c.1043G>T (p.Cys348Phe)
|
rs121964927
|
0.00001
|
NM_019616.4(F7):c.443G>A (p.Arg148His)
|
rs375134790
|
0.00001
|
NM_020247.5(COQ8A):c.588+1G>C
|
rs1474965033
|
0.00001
|
NM_020863.4(ZFAT):c.3653C>T (p.Ser1218Leu)
|
rs1428157950
|
0.00001
|
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)
|
rs143795581
|
0.00001
|
NM_021870.2(FGG):c.902G>A (p.Arg301His)
|
rs121913088
|
0.00001
|
NM_021871.4(FGA):c.104G>A (p.Arg35His)
|
rs121909607
|
0.00001
|
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)
|
rs119103220
|
0.00001
|
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)
|
rs768606230
|
0.00001
|
NM_024577.4(SH3TC2):c.224G>A (p.Arg75Gln)
|
rs749772988
|
0.00001
|
NM_024577.4(SH3TC2):c.2577T>A (p.Tyr859Ter)
|
rs758871406
|
0.00001
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)
|
rs142103232
|
0.00001
|
NM_024675.4(PALB2):c.229del (p.Cys77fs)
|
rs180177084
|
0.00001
|
NM_024675.4(PALB2):c.2971G>T (p.Val991Phe)
|
rs765175665
|
0.00001
|
NM_024675.4(PALB2):c.3350+11A>G
|
rs515726114
|
0.00001
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
NM_025150.5(TARS2):c.695+3A>G
|
rs587777594
|
0.00001
|
NM_031407.7(HUWE1):c.8944C>T (p.Arg2982Trp)
|
rs373845421
|
0.00001
|
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu)
|
rs45459799
|
0.00001
|
NM_053025.4(MYLK):c.2663G>A (p.Arg888His)
|
rs528507616
|
0.00001
|
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)
|
rs770944877
|
0.00001
|
NM_058216.3(RAD51C):c.408G>A (p.Met136Ile)
|
rs587780836
|
0.00001
|
NM_058216.3(RAD51C):c.550G>A (p.Ala184Thr)
|
rs1060502604
|
0.00001
|
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)
|
rs587782528
|
0.00001
|
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)
|
rs193922479
|
0.00001
|
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys)
|
rs973621936
|
0.00001
|
NM_198252.3(GSN):c.487G>A (p.Asp163Asn)
|
rs121909715
|
0.00001
|
NM_199242.3(UNC13D):c.1556T>C (p.Ile519Thr)
|
rs1402195363
|
0.00001
|
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)
|
rs1553299079
|
0.00001
|
GRCh37/hg19 4q25(chr4:111528916-111888401)x1
|
|
|
GRCh37/hg19 6p25.3(chr6:951385-1832936)x3
|
|
|
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0
|
|
|
GRCh37/hg19 Xp22.31(chrX:6575924-8173248)x0
|
|
|
NC_000004.12:g.(?_110618049)_(110622472_?)del
|
|
|
NC_000006.12:g.(?_1610445)_(1612107_?)del
|
|
|
NM_000016.6(ACADM):c.947A>T (p.His316Leu)
|
|
|
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro)
|
rs777002501
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000020.3(ACVRL1):c.1135G>C (p.Glu379Gln)
|
|
|
NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr)
|
rs1085307428
|
|
NM_000020.3(ACVRL1):c.286A>G (p.Asn96Asp)
|
rs2139065803
|
|
NM_000020.3(ACVRL1):c.625+1G>A
|
|
|
NM_000021.4(PSEN1):c.350C>T (p.Pro117Leu)
|
rs63749805
|
|
NM_000032.5(ALAS2):c.-15-1829T>C
|
|
|
NM_000038.6(APC):c.1660C>T (p.Arg554Ter)
|
rs137854573
|
|
NM_000038.6(APC):c.4332A>T (p.Gln1444His)
|
rs748342378
|
|
NM_000044.6(AR):c.1605del (p.Pro534_Tyr535insTer)
|
|
|
NM_000044.6(AR):c.2505C>G (p.Tyr835Ter)
|
rs2147537887
|
|
NM_000047.3(ARSL):c.1219G>T (p.Glu407Ter)
|
rs1272438892
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.2483del (p.Lys828fs)
|
rs1064794234
|
|
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)
|
rs886039637
|
|
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)
|
rs754562056
|
|
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)
|
rs375783941
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.790del (p.Tyr264fs)
|
rs587781978
|
|
NM_000053.4(ATP7B):c.2730+2T>A
|
rs2139201007
|
|
NM_000059.4(BRCA2):c.-39-12_-39-10del
|
rs276174798
|
|
NM_000059.4(BRCA2):c.10013C>A (p.Ser3338Ter)
|
rs1593202166
|
|
NM_000059.4(BRCA2):c.1220A>G (p.Gln407Arg)
|
rs1593892264
|
|
NM_000059.4(BRCA2):c.1362del (p.Lys454fs)
|
rs80359282
|
|
NM_000059.4(BRCA2):c.1586_1587del (p.Asn528_Phe529insTer)
|
rs1017181748
|
|
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1929del (p.Arg645fs)
|
rs80359316
|
|
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)
|
rs80359328
|
|
NM_000059.4(BRCA2):c.2563A>G (p.Thr855Ala)
|
rs1174270999
|
|
NM_000059.4(BRCA2):c.2980del (p.Ala994fs)
|
rs2137491867
|
|
NM_000059.4(BRCA2):c.3485C>T (p.Ala1162Val)
|
rs587778122
|
|
NM_000059.4(BRCA2):c.3595G>A (p.Asp1199Asn)
|
rs1060502404
|
|
NM_000059.4(BRCA2):c.3679_3683del (p.Leu1227fs)
|
rs1555283355
|
|
NM_000059.4(BRCA2):c.4154C>G (p.Ser1385Ter)
|
rs886038101
|
|
NM_000059.4(BRCA2):c.4409_4410del (p.Ile1470fs)
|
rs80359446
|
|
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs)
|
rs80359448
|
|
NM_000059.4(BRCA2):c.475G>A (p.Val159Met)
|
rs80358702
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5081G>A (p.Arg1694Lys)
|
rs753721331
|
|
NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro)
|
rs55877890
|
|
NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del)
|
rs80359588
|
|
NM_000059.4(BRCA2):c.67+1G>C
|
rs81002796
|
|
NM_000059.4(BRCA2):c.6750_6751insACACA (p.His2251fs)
|
rs2137530365
|
|
NM_000059.4(BRCA2):c.682-8T>A
|
rs2137461032
|
|
NM_000059.4(BRCA2):c.6915G>A (p.Lys2305=)
|
rs1555285156
|
|
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)
|
rs80359636
|
|
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs)
|
rs397507907
|
|
NM_000059.4(BRCA2):c.7435+5T>C
|
rs775973095
|
|
NM_000059.4(BRCA2):c.7648A>C (p.Ile2550Leu)
|
rs41293507
|
|
NM_000059.4(BRCA2):c.7762del (p.Ile2588fs)
|
rs80359679
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8485C>T (p.Gln2829Ter)
|
rs80359099
|
|
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)
|
rs80359100
|
|
NM_000059.4(BRCA2):c.8487+3A>G
|
rs81002806
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu)
|
rs80359187
|
|
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg)
|
rs276174923
|
|
NM_000064.4(C3):c.481C>T (p.Arg161Trp)
|
rs776423109
|
|
NM_000065.5(C6):c.2101C>T (p.Arg701Trp)
|
rs199930769
|
|
NM_000071.3(CBS):c.19dup (p.Gln7fs)
|
rs748695461
|
|
NM_000071.3(CBS):c.667-14C>G
|
rs1388184910
|
|
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser)
|
rs199907548
|
|
NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs)
|
rs932032926
|
|
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)
|
rs753828284
|
|
NM_000088.4(COL1A1):c.1427G>T (p.Gly476Val)
|
|
|
NM_000088.4(COL1A1):c.1811del (p.Pro604fs)
|
|
|
NM_000088.4(COL1A1):c.2908_2911del (p.Arg970fs)
|
rs1555572401
|
|
NM_000088.4(COL1A1):c.299-2A>G
|
|
|
NM_000089.4(COL1A2):c.594+15A>G
|
rs1791795919
|
|
NM_000090.4(COL3A1):c.1733T>A (p.Met578Lys)
|
|
|
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val)
|
rs2153502692
|
|
NM_000090.4(COL3A1):c.2176G>A (p.Gly726Arg)
|
rs587779638
|
|
NM_000090.4(COL3A1):c.2330G>A (p.Gly777Glu)
|
|
|
NM_000090.4(COL3A1):c.3836T>C (p.Val1279Ala)
|
|
|
NM_000090.4(COL3A1):c.636+1G>T
|
|
|
NM_000091.5(COL4A3):c.1025G>A (p.Gly342Asp)
|
|
|
NM_000091.5(COL4A3):c.1788_1823del (p.Pro598_Pro609del)
|
|
|
NM_000092.5(COL4A4):c.930+5G>A
|
|
|
NM_000093.5(COL5A1):c.175A>G (p.Thr59Ala)
|
rs751649145
|
|
NM_000093.5(COL5A1):c.2701-25T>G
|
rs765079080
|
|
NM_000111.3(SLC26A3):c.1514+1G>A
|
|
|
NM_000111.3(SLC26A3):c.571-1G>T
|
rs386833485
|
|
NM_000112.4(SLC26A2):c.-26+1G>A
|
|
|
NM_000127.3(EXT1):c.1884-3C>G
|
rs2129694265
|
|
NM_000128.4(F11):c.152C>T (p.Thr51Ile)
|
rs281875252
|
|
NM_000128.4(F11):c.1782C>A (p.Ser594Arg)
|
rs28934609
|
|
NM_000128.4(F11):c.485+1G>T
|
|
|
NM_000130.5(F5):c.1673A>G (p.Tyr558Cys)
|
|
|
NM_000132.4(F8):c.102C>G (p.Asp34Glu)
|
|
|
NM_000132.4(F8):c.1172G>A (p.Arg391His)
|
rs28935499
|
|
NM_000132.4(F8):c.1203G>A (p.Trp401Ter)
|
rs2124106016
|
|
NM_000132.4(F8):c.1443+2T>G
|
rs2073420861
|
|
NM_000132.4(F8):c.1468A>G (p.Arg490Gly)
|
rs1603435026
|
|
NM_000132.4(F8):c.1907T>C (p.Ile636Thr)
|
|
|
NM_000132.4(F8):c.1910A>G (p.Asn637Ser)
|
rs2073315379
|
|
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer)
|
rs387906434
|
|
NM_000132.4(F8):c.2150G>T (p.Arg717Leu)
|
rs942909873
|
|
NM_000132.4(F8):c.335C>T (p.Ser112Phe)
|
|
|
NM_000132.4(F8):c.5146C>A (p.His1716Asn)
|
rs2073172888
|
|
NM_000132.4(F8):c.5150_5151del (p.Tyr1717fs)
|
rs2124046974
|
|
NM_000132.4(F8):c.557A>G (p.Asp186Gly)
|
|
|
NM_000132.4(F8):c.5582A>G (p.Asp1861Gly)
|
rs2123997685
|
|
NM_000132.4(F8):c.5853A>C (p.Leu1951Phe)
|
|
|
NM_000132.4(F8):c.5853A>T (p.Leu1951Phe)
|
|
|
NM_000132.4(F8):c.5855T>A (p.Val1952Glu)
|
rs2123996355
|
|
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln)
|
rs28937294
|
|
NM_000132.4(F8):c.5999G>C (p.Gly2000Ala)
|
rs1603432913
|
|
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp)
|
rs137852453
|
|
NM_000132.4(F8):c.6052G>A (p.Glu2018Lys)
|
|
|
NM_000132.4(F8):c.6119G>A (p.Cys2040Tyr)
|
rs2123993600
|
|
NM_000132.4(F8):c.6273G>C (p.Lys2091Asn)
|
|
|
NM_000132.4(F8):c.6301C>G (p.His2101Asp)
|
rs1603432783
|
|
NM_000132.4(F8):c.6362T>A (p.Ile2121Asn)
|
|
|
NM_000132.4(F8):c.6506G>A (p.Arg2169His)
|
rs137852461
|
|
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys)
|
rs137852464
|
|
NM_000132.4(F8):c.6545G>A (p.Arg2182His)
|
rs137852466
|
|
NM_000132.4(F8):c.6547A>G (p.Met2183Val)
|
rs781797728
|
|
NM_000132.4(F8):c.671-1G>A
|
rs1255271151
|
|
NM_000132.4(F8):c.6710C>T (p.Ala2237Val)
|
|
|
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter)
|
rs137852354
|
|
NM_000132.4(F8):c.967G>A (p.Gly323Arg)
|
rs2124109849
|
|
NM_000132.4(F8):c.984T>G (p.Phe328Leu)
|
rs782668199
|
|
NM_000133.4(F9):c.1138G>A (p.Ala380Thr)
|
rs2148367990
|
|
NM_000133.4(F9):c.505T>C (p.Ser169Pro)
|
|
|
NM_000133.4(F9):c.676C>T (p.Arg226Trp)
|
rs137852240
|
|
NM_000133.4(F9):c.835G>A (p.Ala279Thr)
|
rs137852247
|
|
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter)
|
rs886039550
|
|
NM_000138.5(FBN1):c.1415dup (p.Tyr472Ter)
|
|
|
NM_000138.5(FBN1):c.1737del (p.Asn580fs)
|
|
|
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)
|
rs794728290
|
|
NM_000138.5(FBN1):c.2729A>T (p.Asp910Val)
|
rs1284769637
|
|
NM_000138.5(FBN1):c.284C>A (p.Ser95Ter)
|
rs922684362
|
|
NM_000138.5(FBN1):c.2876T>C (p.Phe959Ser)
|
|
|
NM_000138.5(FBN1):c.6313+5G>C
|
rs878853688
|
|
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser)
|
rs121918487
|
|
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)
|
rs121913485
|
|
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)
|
rs78311289
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000143.4(FH):c.1064A>T (p.Glu355Val)
|
|
|
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)
|
rs80356482
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000159.4(GCDH):c.541G>A (p.Glu181Lys)
|
rs745852738
|
|
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu)
|
rs777870079
|
|
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys)
|
rs1167124132
|
|
NM_000162.5(GCK):c.397T>G (p.Phe133Val)
|
|
|
NM_000162.5(GCK):c.449T>C (p.Phe150Ser)
|
rs193922297
|
|
NM_000162.5(GCK):c.554T>C (p.Leu185Pro)
|
|
|
NM_000162.5(GCK):c.580-3C>A
|
|
|
NM_000162.5(GCK):c.601G>T (p.Ala201Ser)
|
rs794727775
|
|
NM_000162.5(GCK):c.641dup (p.Tyr214Ter)
|
rs2128821490
|
|
NM_000162.5(GCK):c.781G>A (p.Gly261Arg)
|
rs104894008
|
|
NM_000162.5(GCK):c.878T>C (p.Ile293Thr)
|
rs2128820046
|
|
NM_000162.5(GCK):c.940del (p.Leu314fs)
|
|
|
NM_000162.5(GCK):c.952G>A (p.Gly318Arg)
|
rs193922340
|
|
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln)
|
rs863224974
|
|
NM_000166.6(GJB1):c.541G>A (p.Val181Met)
|
rs879253909
|
|
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
|
rs1060501002
|
|
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln)
|
rs121918408
|
|
NM_000173.7(GP1BA):c.1775G>A (p.Arg592Gln)
|
|
|
NM_000173.7(GP1BA):c.746G>T (p.Gly249Val)
|
rs121908062
|
|
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter)
|
rs1553412966
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
NM_000179.3(MSH6):c.2281_2282del (p.Arg761fs)
|
rs1114167721
|
|
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs)
|
rs587779243
|
|
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)
|
rs587779246
|
|
NM_000179.3(MSH6):c.2943dup (p.Pro982fs)
|
rs2104432135
|
|
NM_000179.3(MSH6):c.3104G>A (p.Arg1035Gln)
|
rs730881801
|
|
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs)
|
rs1553414519
|
|
NM_000179.3(MSH6):c.3158_3159del (p.Cys1053fs)
|
rs2104443138
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3560_3563del (p.Glu1187fs)
|
rs2104521805
|
|
NM_000179.3(MSH6):c.3573dup (p.Val1192fs)
|
rs1057517764
|
|
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs)
|
rs1064794384
|
|
NM_000179.3(MSH6):c.3720dup (p.Cys1241fs)
|
rs2104541388
|
|
NM_000179.3(MSH6):c.3764A>T (p.Asp1255Val)
|
|
|
NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro)
|
rs267608122
|
|
NM_000179.3(MSH6):c.850dup (p.Asp284fs)
|
rs267608062
|
|
NM_000182.5(HADHA):c.1811del (p.Gly604fs)
|
rs747985669
|
|
NM_000183.3(HADHB):c.1063C>A (p.Pro355Thr)
|
rs1370999216
|
|
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)
|
rs786205431
|
|
NM_000193.4(SHH):c.431G>A (p.Arg144His)
|
|
|
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys)
|
rs1567914835
|
|
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys)
|
rs1455698449
|
|
NM_000208.4(INSR):c.704G>T (p.Cys235Phe)
|
|
|
NM_000212.3(ITGB3):c.1843A>G (p.Ile615Val)
|
|
|
NM_000217.3(KCNA1):c.1210G>A (p.Val404Ile)
|
rs104894355
|
|
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)
|
rs199473410
|
|
NM_000218.3(KCNQ1):c.1106C>T (p.Pro369Leu)
|
rs781369724
|
|
NM_000219.6(KCNE1):c.334_342dup (p.His112_Ala114dup)
|
rs1374867074
|
|
NM_000222.3(KIT):c.1674G>C (p.Lys558Asn)
|
rs200375589
|
|
NM_000223.4(KRT12):c.1148_1159del (p.Gln383_Val387delinsLeu)
|
rs2143257204
|
|
NM_000223.4(KRT12):c.1151T>C (p.Leu384Pro)
|
rs2143257255
|
|
NM_000237.3(LPL):c.867C>A (p.Tyr289Ter)
|
|
|
NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser)
|
rs199473522
|
|
NM_000249.4(MLH1):c.150dup (p.Val51fs)
|
rs63749956
|
|
NM_000249.4(MLH1):c.1554dup (p.Glu519Ter)
|
rs63751689
|
|
NM_000249.4(MLH1):c.1589_1597del (p.Phe530_Gly532del)
|
|
|
NM_000249.4(MLH1):c.1595G>A (p.Gly532Asp)
|
rs2084640841
|
|
NM_000249.4(MLH1):c.1896+1del
|
rs267607868
|
|
NM_000249.4(MLH1):c.536TTG[1] (p.Val180del)
|
rs786201988
|
|
NM_000249.4(MLH1):c.672del (p.Ser225fs)
|
rs587779031
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
NM_000249.4(MLH1):c.827T>G (p.Ile276Arg)
|
rs1253275403
|
|
NM_000249.4(MLH1):c.911del (p.Asp304fs)
|
rs1553647969
|
|
NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter)
|
rs63750558
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1276+1G>A
|
rs267607950
|
|
NM_000251.3(MSH2):c.1697del (p.Asn566fs)
|
rs63750737
|
|
NM_000251.3(MSH2):c.1759+1G>A
|
rs587779108
|
|
NM_000251.3(MSH2):c.1993del (p.His665fs)
|
rs1667251882
|
|
NM_000251.3(MSH2):c.209C>T (p.Ala70Val)
|
rs587782481
|
|
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)
|
rs63750624
|
|
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)
|
rs63750934
|
|
NM_000256.3(MYBPC3):c.1224-19G>A
|
rs587776699
|
|
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)
|
rs397515925
|
|
NM_000256.3(MYBPC3):c.2067+1G>A
|
rs1444727212
|
|
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs)
|
rs397515947
|
|
NM_000256.3(MYBPC3):c.2309-2A>G
|
rs111729952
|
|
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp)
|
rs727503188
|
|
NM_000256.3(MYBPC3):c.2459G>C (p.Arg820Pro)
|
rs2856655
|
|
NM_000256.3(MYBPC3):c.3357C>A (p.Tyr1119Ter)
|
rs1565622952
|
|
NM_000256.3(MYBPC3):c.3471del (p.Val1158fs)
|
|
|
NM_000257.4(MYH7):c.1315A>G (p.Met439Val)
|
rs370310929
|
|
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)
|
rs397516127
|
|
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)
|
rs121913632
|
|
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile)
|
rs1060505018
|
|
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile)
|
rs1060505018
|
|
NM_000257.4(MYH7):c.4493_4494delinsAT (p.Phe1498Tyr)
|
rs2138645175
|
|
NM_000257.4(MYH7):c.4660G>A (p.Glu1554Lys)
|
rs142694139
|
|
NM_000257.4(MYH7):c.983A>G (p.Glu328Gly)
|
|
|
NM_000258.3(MYL3):c.447G>T (p.Met149Ile)
|
rs730880162
|
|
NM_000261.2(MYOC):c.1109C>T (p.Pro370Leu)
|
rs74315330
|
|
NM_000261.2(MYOC):c.1349A>G (p.Asn450Ser)
|
|
|
NM_000261.2(MYOC):c.526del (p.Glu176fs)
|
rs779307074
|
|
NM_000261.2(MYOC):c.844del (p.Gln282fs)
|
rs774268708
|
|
NM_000264.5(PTCH1):c.1197G>A (p.Trp399Ter)
|
|
|
NM_000264.5(PTCH1):c.1729-11del
|
rs779000277
|
|
NM_000268.4(NF2):c.1039G>T (p.Glu347Ter)
|
|
|
NM_000268.4(NF2):c.106A>G (p.Asn36Asp)
|
|
|
NM_000268.4(NF2):c.10del (p.Ala4fs)
|
rs2064712705
|
|
NM_000268.4(NF2):c.1193T>C (p.Leu398Pro)
|
rs2147082680
|
|
NM_000268.4(NF2):c.193C>T (p.Gln65Ter)
|
rs2065661533
|
|
NM_000268.4(NF2):c.285CTT[1] (p.Phe96del)
|
rs121434260
|
|
NM_000268.4(NF2):c.363+1G>A
|
rs1601583839
|
|
NM_000268.4(NF2):c.363+3A>C
|
rs1060503669
|
|
NM_000268.4(NF2):c.447G>T (p.Lys149Asn)
|
|
|
NM_000268.4(NF2):c.448-1G>A
|
rs2146966216
|
|
NM_000268.4(NF2):c.476del (p.Lys159fs)
|
|
|
NM_000268.4(NF2):c.499G>T (p.Glu167Ter)
|
|
|
NM_000268.4(NF2):c.517-1G>A
|
rs1064796632
|
|
NM_000268.4(NF2):c.553G>T (p.Glu185Ter)
|
rs2146972508
|
|
NM_000268.4(NF2):c.586C>T (p.Arg196Ter)
|
rs1555993336
|
|
NM_000277.3(PAH):c.60+2del
|
|
|
NM_000283.4(PDE6B):c.946G>A (p.Val316Met)
|
|
|
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)
|
rs606231185
|
|
NM_000291.4(PGK1):c.164C>A (p.Ala55Asp)
|
rs2149132087
|
|
NM_000295.5(SERPINA1):c.1178C>G (p.Pro393Arg)
|
rs199422209
|
|
NM_000298.6(PKLR):c.1022G>C (p.Gly341Ala)
|
|
|
NM_000298.6(PKLR):c.823G>C (p.Gly275Arg)
|
|
|
NM_000304.4(PMP22):c.434del (p.Leu145fs)
|
rs863225029
|
|
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)
|
rs121918472
|
|
NM_000313.4(PROS1):c.684C>G (p.Cys228Trp)
|
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.178A>C (p.Lys60Gln)
|
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000314.8(PTEN):c.397G>C (p.Val133Leu)
|
|
|
NM_000314.8(PTEN):c.463T>C (p.Tyr155His)
|
rs398123325
|
|
NM_000316.3(PTH1R):c.1393G>A (p.Glu465Lys)
|
rs1683106396
|
|
NM_000317.3(PTS):c.351C>A (p.Asn117Lys)
|
rs2135410460
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
NM_000321.3(RB1):c.1333-13T>A
|
|
|
NM_000321.3(RB1):c.1389+5G>C
|
rs1131690859
|
|
NM_000321.3(RB1):c.1389+6T>G
|
rs2138141082
|
|
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter)
|
rs398123331
|
|
NM_000321.3(RB1):c.1623del (p.Asn541_Leu542insTer)
|
|
|
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter)
|
rs1948534542
|
|
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter)
|
rs121913305
|
|
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg)
|
rs137853296
|
|
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter)
|
rs121913297
|
|
NM_000321.3(RB1):c.2279T>C (p.Phe760Ser)
|
rs1949430890
|
|
NM_000321.3(RB1):c.2520+3_2520+6del
|
rs1131690858
|
|
NM_000321.3(RB1):c.2663+1G>A
|
rs2138359672
|
|
NM_000321.3(RB1):c.409G>T (p.Glu137Ter)
|
rs121913296
|
|
NM_000321.3(RB1):c.619C>T (p.Gln207Ter)
|
rs2138107604
|
|
NM_000321.3(RB1):c.751C>T (p.Arg251Ter)
|
rs1131690863
|
|
NM_000321.3(RB1):c.763C>T (p.Arg255Ter)
|
rs587778842
|
|
NM_000321.3(RB1):c.796C>T (p.Gln266Ter)
|
|
|
NM_000321.3(RB1):c.958C>T (p.Arg320Ter)
|
rs121913300
|
|
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)
|
rs61755792
|
|
NM_000325.6(PITX2):c.343_364del (p.Arg115fs)
|
rs1057519483
|
|
NM_000325.6(PITX2):c.350C>T (p.Pro117Leu)
|
rs1057519484
|
|
NM_000325.6(PITX2):c.430C>G (p.Arg144Gly)
|
rs1057519485
|
|
NM_000325.6(PITX2):c.433G>C (p.Ala145Pro)
|
rs1057519486
|
|
NM_000325.6(PITX2):c.714_735del (p.Thr239fs)
|
rs1057519487
|
|
NM_000325.6(PITX2):c.784_785del (p.Ser262fs)
|
rs1057519488
|
|
NM_000325.6(PITX2):c.807T>A (p.Cys269Ter)
|
rs1057519489
|
|
NM_000329.3(RPE65):c.1067del (p.Asn356fs)
|
rs281865520
|
|
NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser)
|
|
|
NM_000329.3(RPE65):c.1333G>C (p.Asp445His)
|
|
|
NM_000330.4(RS1):c.589C>T (p.Arg197Cys)
|
rs281865354
|
|
NM_000334.4(SCN4A):c.3733G>A (p.Gly1245Ser)
|
|
|
NM_000335.5(SCN5A):c.2383G>C (p.Glu795Gln)
|
|
|
NM_000335.5(SCN5A):c.5620_5622dup (p.Met1874dup)
|
rs1474459822
|
|
NM_000346.4(SOX9):c.432-2A>T
|
rs1908139210
|
|
NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter)
|
rs1057517700
|
|
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter)
|
rs1570382663
|
|
NM_000350.3(ABCA4):c.5530G>T (p.Gly1844Cys)
|
rs2101008373
|
|
NM_000350.3(ABCA4):c.6386+1G>A
|
rs745654673
|
|
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)
|
rs61753046
|
|
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)
|
rs886041392
|
|
NM_000358.3(TGFBI):c.1612A>C (p.Thr538Pro)
|
rs2126915354
|
|
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp)
|
rs121909208
|
|
NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln)
|
rs121909209
|
|
NM_000358.3(TGFBI):c.1864A>C (p.Asn622His)
|
rs2126917690
|
|
NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser)
|
rs121909210
|
|
NM_000359.3(TGM1):c.814T>C (p.Ser272Pro)
|
rs764040146
|
|
NM_000365.6(TPI1):c.544-1G>C
|
rs2138094606
|
|
NM_000368.5(TSC1):c.1415G>A (p.Ser472Asn)
|
rs1203620977
|
|
NM_000369.5(TSHR):c.1358T>C (p.Met453Thr)
|
rs121908864
|
|
NM_000369.5(TSHR):c.1839C>A (p.Tyr613Ter)
|
|
|
NM_000371.4(TTR):c.94C>G (p.Leu32Val)
|
rs2144406525
|
|
NM_000372.5(TYR):c.1493del (p.Leu498fs)
|
rs763648121
|
|
NM_000374.5(UROD):c.725del (p.Lys242fs)
|
|
|
NM_000383.4(AIRE):c.349del (p.Ala117fs)
|
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000384.3(APOB):c.2454G>C (p.Arg818Ser)
|
|
|
NM_000388.4(CASR):c.1212C>T (p.Val404=)
|
rs967661303
|
|
NM_000388.4(CASR):c.1786A>C (p.Thr596Pro)
|
|
|
NM_000388.4(CASR):c.190A>G (p.Asn64Asp)
|
rs2107627423
|
|
NM_000388.4(CASR):c.2054G>A (p.Gly685Asp)
|
|
|
NM_000388.4(CASR):c.205C>A (p.Arg69Ser)
|
|
|
NM_000388.4(CASR):c.2096C>T (p.Thr699Ile)
|
rs2107649929
|
|
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)
|
rs193922433
|
|
NM_000388.4(CASR):c.2516T>A (p.Ile839Asn)
|
rs2107650645
|
|
NM_000388.4(CASR):c.379G>A (p.Glu127Lys)
|
rs2074565202
|
|
NM_000392.5(ABCC2):c.3614+1G>C
|
rs2133124899
|
|
NM_000393.5(COL5A2):c.553G>A (p.Asp185Asn)
|
rs775933907
|
|
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)
|
|
|
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys)
|
rs137852329
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000407.5(GP1BB):c.148C>A (p.Pro50Thr)
|
|
|
NM_000407.5(GP1BB):c.240_246dup (p.Thr83fs)
|
|
|
NM_000419.5(ITGA2B):c.1545-1G>A
|
|
|
NM_000419.5(ITGA2B):c.2946G>A (p.Val982=)
|
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
NM_000426.4(LAMA2):c.5122G>T (p.Glu1708Ter)
|
|
|
NM_000426.4(LAMA2):c.5266A>T (p.Lys1756Ter)
|
rs2114674584
|
|
NM_000429.3(MAT1A):c.315C>A (p.Asn105Lys)
|
|
|
NM_000435.3(NOTCH3):c.3970T>A (p.Cys1324Ser)
|
|
|
NM_000435.3(NOTCH3):c.431G>T (p.Cys144Phe)
|
|
|
NM_000443.4(ABCB4):c.2318G>T (p.Gly773Val)
|
rs1554401811
|
|
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)
|
rs137853271
|
|
NM_000444.6(PHEX):c.1996_1999del (p.Gln666fs)
|
|
|
NM_000451.4(SHOX):c.877T>C (p.Ter293Arg)
|
rs137852559
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
NM_000458.4(HNF1B):c.809+1G>T
|
|
|
NM_000463.3(UGT1A1):c.1220del (p.Lys407fs)
|
rs558109660
|
|
NM_000474.4(TWIST1):c.352C>A (p.Arg118Ser)
|
rs1554442015
|
|
NM_000478.6(ALPL):c.568_570del (p.Asn190del)
|
rs1644529451
|
|
NM_000488.4(SERPINC1):c.1003del (p.Val335fs)
|
|
|
NM_000488.4(SERPINC1):c.1121A>G (p.Asp374Gly)
|
|
|
NM_000488.4(SERPINC1):c.1169dup (p.Arg391fs)
|
|
|
NM_000489.6(ATRX):c.2011A>T (p.Asn671Tyr)
|
|
|
NM_000489.6(ATRX):c.371-2_371-1insAAG
|
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.3802C>G (p.Gln1268Glu)
|
|
|
NM_000492.4(CFTR):c.4354C>T (p.His1452Tyr)
|
|
|
NM_000496.3(CRYBB2):c.427T>C (p.Ser143Pro)
|
|
|
NM_000503.6(EYA1):c.1598-2del
|
|
|
NM_000503.6(EYA1):c.979T>C (p.Trp327Arg)
|
rs2128948223
|
|
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser)
|
rs569725936
|
|
NM_000516.7(GNAS):c.845T>G (p.Leu282Arg)
|
rs2146289554
|
|
NM_000517.6(HBA2):c.*93_*94del
|
rs63751268
|
|
NM_000517.6(HBA2):c.95+2_95+6del
|
rs41474145
|
|
NM_000518.4(HBB):c.206T>C (p.Leu69Pro)
|
rs33972593
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.233_234del (p.His78fs)
|
rs2133588176
|
|
NM_000518.5(HBB):c.279C>G (p.His93Gln)
|
|
|
NM_000518.5(HBB):c.2T>C (p.Met1Thr)
|
rs33941849
|
|
NM_000518.5(HBB):c.316-14T>G
|
rs35703285
|
|
NM_000518.5(HBB):c.93-22_95del
|
rs193922563
|
|
NM_000525.4(KCNJ11):c.1058A>G (p.His353Arg)
|
|
|
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro)
|
rs879254851
|
|
NM_000527.5(LDLR):c.136T>G (p.Cys46Gly)
|
rs879254415
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
|
|
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr)
|
rs121908042
|
|
NM_000527.5(LDLR):c.373C>T (p.Gln125Ter)
|
rs875989899
|
|
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)
|
rs879254535
|
|
NM_000527.5(LDLR):c.621C>T (p.Gly207=)
|
rs121908044
|
|
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)
|
rs387906305
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
NM_000527.5(LDLR):c.82G>T (p.Glu28Ter)
|
rs551747280
|
|
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr)
|
rs875989910
|
|
NM_000531.6(OTC):c.717G>T (p.Glu239Asp)
|
|
|
NM_000535.7(PMS2):c.1639dup (p.Ser547fs)
|
rs863224498
|
|
NM_000535.7(PMS2):c.2448GAT[1] (p.Met817del)
|
rs1781510137
|
|
NM_000535.7(PMS2):c.705G>A (p.Gln235=)
|
rs876660872
|
|
NM_000535.7(PMS2):c.903+1G>C
|
rs1554300689
|
|
NM_000539.3(RHO):c.553T>C (p.Cys185Arg)
|
rs1236550448
|
|
NM_000540.3(RYR1):c.12443A>C (p.Asn4148Thr)
|
rs1213878810
|
|
NM_000540.3(RYR1):c.9257A>T (p.Glu3086Val)
|
|
|
NM_000545.8(HNF1A):c.1522G>T (p.Glu508Ter)
|
|
|
NM_000545.8(HNF1A):c.404del (p.Asp135fs)
|
rs2135832632
|
|
NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp)
|
rs765432081
|
|
NM_000545.8(HNF1A):c.661C>T (p.Gln221Ter)
|
rs2135839643
|
|
NM_000545.8(HNF1A):c.863_864insC (p.Pro289fs)
|
rs766191969
|
|
NM_000546.6(TP53):c.454C>T (p.Pro152Ser)
|
rs767328513
|
|
NM_000546.6(TP53):c.493C>T (p.Gln165Ter)
|
rs730882001
|
|
NM_000546.6(TP53):c.695T>A (p.Ile232Asn)
|
rs587781589
|
|
NM_000546.6(TP53):c.773A>G (p.Glu258Gly)
|
rs1060501201
|
|
NM_000546.6(TP53):c.814G>T (p.Val272Leu)
|
rs121912657
|
|
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)
|
rs45517258
|
|
NM_000548.5(TSC2):c.3095G>A (p.Arg1032Gln)
|
rs45491698
|
|
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter)
|
rs45517348
|
|
NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr)
|
rs45485092
|
|
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)
|
rs45483392
|
|
NM_000548.5(TSC2):c.884C>A (p.Ala295Asp)
|
rs1596288578
|
|
NM_000551.4(VHL):c.189dup (p.Arg64fs)
|
rs1553619402
|
|
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del)
|
rs5030648
|
|
NM_000551.4(VHL):c.341-1G>A
|
rs1575927648
|
|
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr)
|
rs397516444
|
|
NM_000551.4(VHL):c.575del (p.Pro192fs)
|
rs2125130735
|
|
NM_000552.5(VWF):c.1309_1326del (p.Asp437_Arg442del)
|
rs267607305
|
|
NM_000552.5(VWF):c.1886A>C (p.Tyr629Ser)
|
|
|
NM_000552.5(VWF):c.2072del (p.Pro691fs)
|
rs267607309
|
|
NM_000552.5(VWF):c.2308C>T (p.Pro770Ser)
|
|
|
NM_000552.5(VWF):c.2618C>T (p.Ala873Val)
|
|
|
NM_000552.5(VWF):c.276dup (p.Asp93Ter)
|
rs61753988
|
|
NM_000552.5(VWF):c.3108+5G>C
|
rs61748495
|
|
NM_000552.5(VWF):c.3247G>A (p.Val1083Ile)
|
|
|
NM_000552.5(VWF):c.3376T>C (p.Cys1126Arg)
|
|
|
NM_000552.5(VWF):c.3517T>C (p.Cys1173Arg)
|
|
|
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser)
|
rs61749368
|
|
NM_000552.5(VWF):c.3749C>G (p.Ala1250Gly)
|
|
|
NM_000552.5(VWF):c.3788C>T (p.Ser1263Leu)
|
|
|
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
|
rs61749370
|
|
NM_000552.5(VWF):c.3845T>C (p.Leu1282Pro)
|
rs61749378
|
|
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp)
|
rs61749384
|
|
NM_000552.5(VWF):c.3946G>A (p.Val1316Met)
|
rs61749397
|
|
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys)
|
rs61750071
|
|
NM_000552.5(VWF):c.4121G>A (p.Arg1374His)
|
rs61750072
|
|
NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr)
|
rs61750081
|
|
NM_000552.5(VWF):c.4249G>T (p.Gly1417Trp)
|
rs2136412846
|
|
NM_000552.5(VWF):c.4705C>T (p.Arg1569Cys)
|
|
|
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr)
|
rs61750584
|
|
NM_000552.5(VWF):c.5314delG
|
|
|
NM_000552.5(VWF):c.573G>C (p.Trp191Cys)
|
|
|
NM_000552.5(VWF):c.6798+2T>A
|
|
|
NM_000552.5(VWF):c.7730-3C>G
|
|
|
NM_000554.6(CRX):c.263A>G (p.Lys88Arg)
|
rs1001151383
|
|
NM_000642.3(AGL):c.3362G>T (p.Arg1121Met)
|
rs1653326843
|
|
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs)
|
rs867341758
|
|
NM_000642.3(AGL):c.3911del (p.Asn1304fs)
|
rs745757264
|
|
NM_000719.7(CACNA1C):c.1276G>A (p.Glu426Lys)
|
|
|
NM_000719.7(CACNA1C):c.1604T>C (p.Phe535Ser)
|
|
|
NM_000719.7(CACNA1C):c.2409G>T (p.Lys803Asn)
|
|
|
NM_000719.7(CACNA1C):c.3085A>G (p.Ile1029Val)
|
|
|
NM_000829.4(GRIA4):c.1564A>G (p.Ile522Val)
|
|
|
NM_000834.5(GRIN2B):c.1658C>T (p.Pro553Leu)
|
rs397514556
|
|
NM_000834.5(GRIN2B):c.3259del (p.Asp1087fs)
|
rs2136405082
|
|
NM_000834.5(GRIN2B):c.3937_3940del (p.Glu1313fs)
|
|
|
NM_000834.5(GRIN2B):c.448A>G (p.Ile150Val)
|
rs796052570
|
|
NM_000875.5(IGF1R):c.2T>A (p.Met1Lys)
|
|
|
NM_000969.5(RPL5):c.3+1G>A
|
|
|
NM_001001548.3(CD36):c.332_333del (p.Thr111fs)
|
rs572295823
|
|
NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs)
|
rs1575155995
|
|
NM_001003694.2(BRPF1):c.898G>A (p.Val300Met)
|
rs2125500407
|
|
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)
|
rs397517021
|
|
NM_001005273.3(CHD3):c.2912A>C (p.Asp971Ala)
|
|
|
NM_001005273.3(CHD3):c.4043A>C (p.Asn1348Thr)
|
|
|
NM_001005373.4(LRSAM1):c.643C>A (p.Pro215Thr)
|
rs765389102
|
|
NM_001007527.2(LMBRD2):c.553dup (p.Ile185fs)
|
|
|
NM_001009944.3(PKD1):c.11116A>G (p.Lys3706Glu)
|
rs2151704349
|
|
NM_001009944.3(PKD1):c.11257C>G (p.Arg3753Gly)
|
|
|
NM_001009944.3(PKD1):c.12458T>G (p.Val4153Gly)
|
rs2151678778
|
|
NM_001009944.3(PKD1):c.6982G>T (p.Glu2328Ter)
|
rs2151783909
|
|
NM_001010892.3(RSPH4A):c.2095G>A (p.Ala699Thr)
|
rs372304999
|
|
NM_001018005.2(TPM1):c.533G>A (p.Arg178His)
|
rs397516375
|
|
NM_001018005.2(TPM1):c.7G>T (p.Ala3Ser)
|
|
|
NM_001020658.2(PUM1):c.213dup (p.Ala72fs)
|
rs2124008285
|
|
NM_001024630.4(RUNX2):c.506G>A (p.Arg169Gln)
|
rs104893995
|
|
NM_001024630.4(RUNX2):c.884del (p.Pro295fs)
|
rs2150421218
|
|
NM_001029883.3(PCARE):c.2185A>G (p.Thr729Ala)
|
|
|
NM_001029896.2(WDR45):c.2T>C (p.Met1Thr)
|
rs1569523565
|
|
NM_001029896.2(WDR45):c.827+1G>C
|
rs1557083958
|
|
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)
|
rs137853113
|
|
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)
|
rs796053356
|
|
NM_001034116.2(EIF2B4):c.1291A>G (p.Asn431Asp)
|
|
|
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)
|
rs1569237077
|
|
NM_001034853.2(RPGR):c.3238C>T (p.Gln1080Ter)
|
|
|
NM_001038.6(SCNN1A):c.1629G>A (p.Thr543=)
|
|
|
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu)
|
rs796053180
|
|
NM_001041.4(SI):c.5279G>A (p.Gly1760Asp)
|
rs145556619
|
|
NM_001042492.3(NF1):c.1527+1G>C
|
rs1060500331
|
|
NM_001042492.3(NF1):c.1845G>A (p.Lys615=)
|
rs1131691080
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.2326-3T>G
|
rs876658946
|
|
NM_001042492.3(NF1):c.3113+1G>T
|
rs267606599
|
|
NM_001042492.3(NF1):c.3144G>A (p.Trp1048Ter)
|
rs1555614635
|
|
NM_001042492.3(NF1):c.3496+2T>C
|
rs766143785
|
|
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr)
|
rs1555617362
|
|
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro)
|
rs199474733
|
|
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys)
|
rs751904277
|
|
NM_001042492.3(NF1):c.6564dup (p.Pro2189fs)
|
rs2151556401
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
NM_001042492.3(NF1):c.853del (p.Ser285fs)
|
|
|
NM_001042492.3(NF1):c.997dup (p.Tyr333fs)
|
rs1567835183
|
|
NM_001042750.2(STAG2):c.671T>C (p.Met224Thr)
|
|
|
NM_001048174.2(MUTYH):c.226T>G (p.Tyr76Asp)
|
rs1060501344
|
|
NM_001065.4(TNFRSF1A):c.236C>T (p.Thr79Met)
|
rs104895219
|
|
NM_001077415.3(CRELD1):c.565G>A (p.Gly189Ser)
|
rs2124849361
|
|
NM_001080449.3(DNA2):c.1213T>C (p.Tyr405His)
|
rs2133402393
|
|
NM_001081550.2(THOC2):c.1010T>C (p.Val337Ala)
|
|
|
NM_001083116.3(PRF1):c.1284G>A (p.Trp428Ter)
|
|
|
NM_001083614.2(EARS2):c.212del (p.Phe71fs)
|
rs778413603
|
|
NM_001083614.2(EARS2):c.236A>T (p.Asp79Val)
|
|
|
NM_001083619.3(GRIA2):c.506del (p.Ala169fs)
|
rs2126885680
|
|
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter)
|
rs1555710726
|
|
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu)
|
rs141621969
|
|
NM_001098671.2(RASGRP2):c.371+5G>T
|
|
|
NM_001099274.3(TINF2):c.1249A>G (p.Lys417Glu)
|
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001105247.2(ARMC5):c.1199_1224dup (p.Ala409fs)
|
|
|
NM_001105247.2(ARMC5):c.337_338dup (p.Val114fs)
|
|
|
NM_001109878.2(TBX22):c.592C>T (p.Arg198Cys)
|
rs776905471
|
|
NM_001110556.2(FLNA):c.1119C>G (p.Tyr373Ter)
|
rs782121971
|
|
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)
|
rs28935473
|
|
NM_001110556.2(FLNA):c.7913C>T (p.Pro2638Leu)
|
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001113378.2(FANCI):c.3355G>T (p.Ala1119Ser)
|
|
|
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
|
rs606231451
|
|
NM_001114753.3(ENG):c.-127C>T
|
rs1060501408
|
|
NM_001114753.3(ENG):c.111del (p.Glu38fs)
|
|
|
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)
|
rs1554810490
|
|
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)
|
rs121908217
|
|
NM_001127222.2(CACNA1A):c.2293A>G (p.Lys765Glu)
|
|
|
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)
|
rs1555736565
|
|
NM_001127222.2(CACNA1A):c.6103G>T (p.Ala2035Ser)
|
|
|
NM_001127255.2(NLRP7):c.2078G>C (p.Arg693Pro)
|
rs104895502
|
|
NM_001127392.3(MYRF):c.648C>A (p.Tyr216Ter)
|
rs753113267
|
|
NM_001129820.2(SLFN14):c.2637del (p.Ser880fs)
|
|
|
NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro)
|
rs2152742282
|
|
NM_001130987.2(DYSF):c.5547-2A>G
|
rs1238293747
|
|
NM_001131016.2(CIZ1):c.2023G>C (p.Asp675His)
|
|
|
NM_001134707.2(SARDH):c.1442G>A (p.Arg481His)
|
|
|
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
|
|
|
NM_001142800.2(EYS):c.4976T>G (p.Leu1659Ter)
|
|
|
NM_001142864.4(PIEZO1):c.1297-1G>A
|
rs1905219617
|
|
NM_001142864.4(PIEZO1):c.2330-9_2330-2dup
|
|
|
NM_001163809.2(WDR81):c.1366C>T (p.Arg456Trp)
|
rs1404957058
|
|
NM_001163809.2(WDR81):c.3843C>A (p.Tyr1281Ter)
|
rs2151169266
|
|
NM_001164508.2(NEB):c.19573C>T (p.Pro6525Ser)
|
|
|
NM_001164508.2(NEB):c.25333C>T (p.Gln8445Ter)
|
rs2152763931
|
|
NM_001164508.2(NEB):c.6075+3A>T
|
rs986325764
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
NM_001170535.3(ATAD3A):c.547A>G (p.Lys183Glu)
|
rs1193481758
|
|
NM_001170629.2(CHD8):c.4875G>A (p.Trp1625Ter)
|
rs1555314116
|
|
NM_001172303.3(MASTL):c.2519G>A (p.Trp840Ter)
|
|
|
NM_001174089.2(SLC4A11):c.379G>A (p.Glu127Lys)
|
rs1482631297
|
|
NM_001174096.2(ZEB1):c.623dup (p.Tyr208Ter)
|
rs2139506946
|
|
NM_001174096.2(ZEB1):c.688-1G>A
|
rs2139622959
|
|
NM_001174096.2(ZEB1):c.692_693del (p.His231fs)
|
|
|
NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro)
|
rs1588307140
|
|
NM_001174147.2(LMX1B):c.741+1G>A
|
rs1427331961
|
|
NM_001190274.2(FBXO11):c.1352T>C (p.Ile451Thr)
|
|
|
NM_001197104.2(KMT2A):c.10064dup (p.Thr3356fs)
|
rs2134409720
|
|
NM_001197104.2(KMT2A):c.8992A>T (p.Ile2998Phe)
|
|
|
NM_001199298.2(UIMC1):c.1732del (p.His578fs)
|
|
|
NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter)
|
rs1085307154
|
|
NM_001206744.2(TPO):c.2619G>A (p.Trp873Ter)
|
|
|
NM_001206744.2(TPO):c.455G>A (p.Arg152Lys)
|
|
|
NM_001206927.2(DNAH8):c.10543G>C (p.Glu3515Gln)
|
|
|
NM_001206927.2(DNAH8):c.1157A>G (p.Asp386Gly)
|
|
|
NM_001206927.2(DNAH8):c.762+1G>A
|
|
|
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter)
|
rs886039269
|
|
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val)
|
rs121908146
|
|
NM_001252024.2(TRPM1):c.2860T>G (p.Cys954Gly)
|
|
|
NM_001256317.3(TMPRSS3):c.323-6G>A
|
rs374793617
|
|
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg)
|
rs1249437161
|
|
NM_001256789.3(CACNA1F):c.3458C>A (p.Ala1153Asp)
|
|
|
NM_001257291.2(SLC9A7):c.706C>A (p.Leu236Ile)
|
|
|
NM_001267550.2(TTN):c.18391_18394del (p.Gly6131fs)
|
rs2154307613
|
|
NM_001267550.2(TTN):c.50914_50918del (p.Leu16972fs)
|
rs2056249919
|
|
NM_001267550.2(TTN):c.62810_62813dup (p.Arg20939fs)
|
|
|
NM_001267550.2(TTN):c.85200_85203del (p.Arg28401fs)
|
rs1703415128
|
|
NM_001270.4(CHD1):c.4760A>G (p.Asp1587Gly)
|
|
|
NM_001270508.2(TNFAIP3):c.547C>G (p.Arg183Gly)
|
rs1423560438
|
|
NM_001270974.2(HYDIN):c.8093A>T (p.Lys2698Met)
|
rs2143778645
|
|
NM_001270974.2(HYDIN):c.8185G>A (p.Gly2729Arg)
|
|
|
NM_001273.5(CHD4):c.1117T>C (p.Cys373Arg)
|
|
|
NM_001277115.2(DNAH11):c.12403C>A (p.Leu4135Ile)
|
|
|
NM_001277115.2(DNAH11):c.13130C>T (p.Ser4377Phe)
|
|
|
NM_001277115.2(DNAH11):c.13472_13490dup (p.Lys4497fs)
|
|
|
NM_001277115.2(DNAH11):c.7572G>T (p.Leu2524Phe)
|
|
|
NM_001278064.2(GRM1):c.851C>T (p.Ala284Val)
|
rs1448466753
|
|
NM_001278293.3(ARL6):c.40AAG[2] (p.Lys16del)
|
rs748472414
|
|
NM_001283009.2(RTEL1):c.106G>A (p.Val36Met)
|
|
|
NM_001289808.2(CRYAB):c.503C>G (p.Ala168Gly)
|
rs2137378339
|
|
NM_001303052.2(MYT1L):c.2519_2520+3del
|
|
|
NM_001320752.2(STS):c.1108G>T (p.Gly370Cys)
|
|
|
NM_001321075.3(DLG4):c.642G>A (p.Ala214=)
|
rs2142883774
|
|
NM_001330078.2(NRXN1):c.2635T>C (p.Tyr879His)
|
|
|
NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter)
|
rs199546979
|
|
NM_001348716.2(KDM6B):c.3046dup (p.Arg1016fs)
|
rs2151378140
|
|
NM_001348800.3(ZBTB20):c.1431dup (p.Arg478fs)
|
|
|
NM_001349206.2(LPIN1):c.1714-126A>G
|
|
|
NM_001349338.3(FOXP1):c.738del (p.Asn247fs)
|
rs2106872055
|
|
NM_001349338.3(FOXP1):c.869G>C (p.Ser290Thr)
|
rs2106869182
|
|
NM_001353345.2(SETD1B):c.3164C>G (p.Ser1055Cys)
|
rs2137567257
|
|
NM_001356.5(DDX3X):c.1852_1866del (p.Ala618_Arg622del)
|
|
|
NM_001356.5(DDX3X):c.372_373del (p.Asn124fs)
|
rs1057518171
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001363.5(DKC1):c.1240C>G (p.Gln414Glu)
|
|
|
NM_001363540.2(DOCK4):c.2689C>T (p.Pro897Ser)
|
|
|
NM_001363711.2(DUOX2):c.127A>T (p.Asn43Tyr)
|
|
|
NM_001363711.2(DUOX2):c.1479dup (p.Gly494fs)
|
|
|
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter)
|
rs770083296
|
|
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu)
|
rs181461079
|
|
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)
|
rs530719719
|
|
NM_001363711.2(DUOX2):c.3134_3135del (p.Val1045fs)
|
|
|
NM_001363711.2(DUOX2):c.4240A>T (p.Ile1414Phe)
|
|
|
NM_001363711.2(DUOX2):c.871G>A (p.Ala291Thr)
|
|
|
NM_001364905.1(LRBA):c.7088T>A (p.Phe2363Tyr)
|
|
|
NM_001365902.3(NFIX):c.765_766del (p.Ile256fs)
|
rs2145434937
|
|
NM_001366385.1(CARD14):c.613T>A (p.Tyr205Asn)
|
rs182551076
|
|
NM_001367823.1(ARHGEF18):c.3161C>T (p.Ala1054Val)
|
|
|
NM_001368894.2(PAX6):c.114_121del (p.Pro39fs)
|
rs1554985737
|
|
NM_001368894.2(PAX6):c.1225+1G>A
|
rs1554982537
|
|
NM_001368894.2(PAX6):c.280_283dup (p.Pro95fs)
|
rs1554985378
|
|
NM_001368894.2(PAX6):c.367G>T (p.Glu123Ter)
|
rs1554985305
|
|
NM_001368894.2(PAX6):c.3G>T (p.Met1Ile)
|
rs1554986754
|
|
NM_001368894.2(PAX6):c.580C>T (p.Gln194Ter)
|
rs1554983571
|
|
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)
|
rs121907916
|
|
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)
|
rs886041222
|
|
NM_001368894.2(PAX6):c.862C>T (p.Gln288Ter)
|
rs1554983229
|
|
NM_001369.3(DNAH5):c.11456-7C>T
|
|
|
NM_001369.3(DNAH5):c.4199C>T (p.Pro1400Leu)
|
rs922374480
|
|
NM_001369.3(DNAH5):c.6000C>A (p.Tyr2000Ter)
|
rs773208371
|
|
NM_001369.3(DNAH5):c.6049C>G (p.Arg2017Gly)
|
|
|
NM_001369.3(DNAH5):c.7631C>T (p.Thr2544Met)
|
|
|
NM_001369268.1(ACAN):c.492C>A (p.Tyr164Ter)
|
rs375322679
|
|
NM_001369268.1(ACAN):c.7389C>T (p.Gly2463=)
|
rs747217927
|
|
NM_001370100.5(ZMYND11):c.1678A>C (p.Lys560Gln)
|
|
|
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.445+1G>T
|
|
|
NM_001371623.1(TCOF1):c.4023G>T (p.Lys1341Asn)
|
rs199890846
|
|
NM_001371928.1(AHDC1):c.3289G>A (p.Glu1097Lys)
|
|
|
NM_001372.4(DNAH9):c.11209T>C (p.Ser3737Pro)
|
rs2151004315
|
|
NM_001372.4(DNAH9):c.2021del (p.Ser674fs)
|
|
|
NM_001372066.1(TFAP2A):c.687C>G (p.Tyr229Ter)
|
rs2114014460
|
|
NM_001372066.1(TFAP2A):c.791G>A (p.Gly264Glu)
|
rs121909575
|
|
NM_001374385.1(ATP8B1):c.1573C>T (p.Arg525Ter)
|
rs770257115
|
|
NM_001374675.1(HSF4):c.899G>T (p.Gly300Val)
|
|
|
NM_001374828.1(ARID1B):c.1293_1308del (p.Gly434fs)
|
|
|
NM_001374828.1(ARID1B):c.5189_5194delinsAGGCT (p.Thr1730fs)
|
|
|
NM_001375524.1(TRRAP):c.9797G>A (p.Arg3266Gln)
|
|
|
NM_001376.5(DYNC1H1):c.5557G>A (p.Val1853Met)
|
|
|
NM_001376.5(DYNC1H1):c.7846G>A (p.Glu2616Lys)
|
rs1555410285
|
|
NM_001377.3(DYNC2H1):c.2579_2580delinsAA (p.Trp860Ter)
|
|
|
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His)
|
rs137853031
|
|
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)
|
rs63751273
|
|
NM_001377304.1(GFI1B):c.649-5G>C
|
|
|
NM_001377304.1(GFI1B):c.869A>G (p.Asn290Ser)
|
|
|
NM_001378183.1(PIEZO2):c.3358T>C (p.Phe1120Leu)
|
|
|
NM_001378418.1(TCF20):c.364dup (p.Gln122fs)
|
rs777979354
|
|
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly)
|
rs2093873520
|
|
NM_001378457.1(DMXL2):c.418G>A (p.Asp140Asn)
|
rs781499566
|
|
NM_001378743.1(CYLD):c.2155A>G (p.Met719Val)
|
rs1971438573
|
|
NM_001378743.1(CYLD):c.2723dup (p.Cys909fs)
|
|
|
NM_001378964.1(CDON):c.1177G>A (p.Gly393Arg)
|
|
|
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile)
|
rs786205867
|
|
NM_001379291.1(BRD4):c.2825C>T (p.Thr942Met)
|
|
|
NM_001379403.1(WDR26):c.1498del (p.His500fs)
|
rs2102897826
|
|
NM_001379451.1(BCORL1):c.5041C>T (p.Pro1681Ser)
|
|
|
NM_001393769.1(MED12L):c.2221C>T (p.Gln741Ter)
|
rs1724263784
|
|
NM_001393769.1(MED12L):c.5450A>T (p.Asp1817Val)
|
|
|
NM_001399.5(EDA):c.252del (p.Gly85fs)
|
rs1569272328
|
|
NM_001421.4(ELF4):c.668A>T (p.Asn223Ile)
|
|
|
NM_001429.4(EP300):c.3098C>T (p.Ser1033Leu)
|
|
|
NM_001453.3(FOXC1):c.100_109del (p.Gly34fs)
|
rs1057519471
|
|
NM_001453.3(FOXC1):c.116_123del (p.Ala39fs)
|
rs1057519472
|
|
NM_001453.3(FOXC1):c.1265C>A (p.Ser422Ter)
|
rs1057519482
|
|
NM_001453.3(FOXC1):c.1491C>G (p.Tyr497Ter)
|
rs760676014
|
|
NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe)
|
rs886039568
|
|
NM_001453.3(FOXC1):c.268G>A (p.Ala90Thr)
|
rs1057519473
|
|
NM_001453.3(FOXC1):c.269C>A (p.Ala90Asp)
|
rs1057519474
|
|
NM_001453.3(FOXC1):c.316C>T (p.Gln106Ter)
|
rs1057519475
|
|
NM_001453.3(FOXC1):c.457A>C (p.Thr153Pro)
|
rs1057519476
|
|
NM_001453.3(FOXC1):c.487G>T (p.Glu163Ter)
|
rs1057519477
|
|
NM_001453.3(FOXC1):c.599_617del (p.Gln200fs)
|
rs1057519478
|
|
NM_001453.3(FOXC1):c.666_681del (p.Ile223fs)
|
rs1057519479
|
|
NM_001453.3(FOXC1):c.718_719del (p.Leu240fs)
|
rs1057519480
|
|
NM_001453.3(FOXC1):c.925_949del (p.Ser309fs)
|
rs1057519481
|
|
NM_001453.3(FOXC1):c.99_108del (p.Gly34fs)
|
rs2113110837
|
|
NM_001454.4(FOXJ1):c.1015G>A (p.Ala339Thr)
|
|
|
NM_001454.4(FOXJ1):c.403C>G (p.Gln135Glu)
|
|
|
NM_001457.4(FLNB):c.5842C>T (p.Arg1948Ter)
|
rs775301566
|
|
NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter)
|
rs1585169831
|
|
NM_001481.3(GAS8):c.245G>A (p.Arg82Gln)
|
rs884928
|
|
NM_001481.3(GAS8):c.67C>G (p.Pro23Ala)
|
|
|
NM_001555.5(IGSF1):c.113C>T (p.Pro38Leu)
|
|
|
NM_001563.4(IMPG1):c.742A>C (p.Lys248Gln)
|
|
|
NM_001609.4(ACADSB):c.824del (p.Ile275fs)
|
rs2133484638
|
|
NM_001615.4(ACTG2):c.593G>T (p.Gly198Val)
|
|
|
NM_001655.5(ARCN1):c.431dup (p.Arg145fs)
|
rs2135542081
|
|
NM_001655.5(ARCN1):c.508C>T (p.Arg170Ter)
|
rs1018525321
|
|
NM_001715.3(BLK):c.868G>T (p.Ala290Ser)
|
|
|
NM_001792.5(CDH2):c.1133A>G (p.Asn378Ser)
|
|
|
NM_001830.4(CLCN4):c.856T>A (p.Phe286Ile)
|
rs2147179487
|
|
NM_001844.5(COL2A1):c.1420-1G>A
|
|
|
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)
|
rs121912884
|
|
NM_001844.5(COL2A1):c.2293G>A (p.Gly765Ser)
|
|
|
NM_001844.5(COL2A1):c.2748CCCTGGTCC[3] (p.Pro922_Ser923insProGlyPro)
|
rs2136528419
|
|
NM_001845.6(COL4A1):c.146G>A (p.Gly49Asp)
|
|
|
NM_001846.4(COL4A2):c.5125A>G (p.Met1709Val)
|
rs370681819
|
|
NM_001848.3(COL6A1):c.1123G>A (p.Glu375Lys)
|
|
|
NM_001849.4(COL6A2):c.105C>A (p.Asn35Lys)
|
|
|
NM_001851.6(COL9A1):c.1450-1G>T
|
|
|
NM_001851.6(COL9A1):c.1864G>A (p.Gly622Arg)
|
|
|
NM_001854.4(COL11A1):c.1245+6T>A
|
rs2101944852
|
|
NM_001854.4(COL11A1):c.3276+1G>C
|
rs2101406339
|
|
NM_001876.4(CPT1A):c.811A>G (p.Arg271Gly)
|
|
|
NM_001887.4(CRYBB1):c.607G>A (p.Gly203Arg)
|
|
|
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)
|
rs121913412
|
|
NM_001972.4(ELANE):c.173C>T (p.Thr58Ile)
|
|
|
NM_001972.4(ELANE):c.413T>A (p.Leu138Gln)
|
|
|
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)
|
rs724159947
|
|
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu)
|
rs1751115198
|
|
NM_001999.4(FBN2):c.3967T>C (p.Cys1323Arg)
|
|
|
NM_002024.6(FMR1):c.1831C>T (p.Arg611Cys)
|
rs961588789
|
|
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn)
|
rs104894808
|
|
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys)
|
rs58064122
|
|
NM_002226.5(JAG2):c.2308G>A (p.Gly770Arg)
|
|
|
NM_002335.4(LRP5):c.4717T>A (p.Tyr1573Asn)
|
|
|
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp)
|
rs104893637
|
|
NM_002470.4(MYH3):c.2015G>A (p.Arg672His)
|
rs121913617
|
|
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)
|
rs80338826
|
|
NM_002473.6(MYH9):c.2482T>C (p.Trp828Arg)
|
rs2146345102
|
|
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)
|
rs80338829
|
|
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)
|
rs80338831
|
|
NM_002473.6(MYH9):c.4354GAG[1] (p.Glu1453del)
|
|
|
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)
|
rs80338834
|
|
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter)
|
rs80338835
|
|
NM_002547.3(OPHN1):c.702+4A>T
|
rs2147481894
|
|
NM_002582.4(PARN):c.1069C>A (p.Pro357Thr)
|
rs767096267
|
|
NM_002585.4(PBX1):c.700C>T (p.Arg234Trp)
|
rs1218945005
|
|
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp)
|
rs121918049
|
|
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)
|
rs121918469
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)
|
rs121918454
|
|
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)
|
rs267606990
|
|
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)
|
rs397507523
|
|
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)
|
rs121918463
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr)
|
rs3730271
|
|
NM_002968.3(SALL1):c.601C>T (p.Gln201Ter)
|
rs2143450145
|
|
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr)
|
rs2077978456
|
|
NM_003001.5(SDHC):c.473T>C (p.Leu158Pro)
|
|
|
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)
|
rs80338843
|
|
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)
|
rs104894306
|
|
NM_003070.5(SMARCA2):c.1676GGA[2] (p.Arg561_Arg562del)
|
rs754525705
|
|
NM_003072.5(SMARCA4):c.1345G>A (p.Glu449Lys)
|
|
|
NM_003072.5(SMARCA4):c.1427T>G (p.Leu476Arg)
|
rs2145937134
|
|
NM_003072.5(SMARCA4):c.2683C>T (p.Gln895Ter)
|
rs2146417384
|
|
NM_003073.5(SMARCB1):c.575_584dup (p.Asp196fs)
|
|
|
NM_003079.5(SMARCE1):c.585_586delinsA (p.Phe196fs)
|
|
|
NM_003079.5(SMARCE1):c.587del (p.Phe196fs)
|
|
|
NM_003079.5(SMARCE1):c.683_685delinsT (p.Lys228fs)
|
|
|
NM_003104.6(SORD):c.553G>A (p.Gly185Arg)
|
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003106.4(SOX2):c.480C>G (p.Tyr160Ter)
|
rs55683010
|
|
NM_003107.3(SOX4):c.91_92delinsAA (p.Ala31Asn)
|
|
|
NM_003108.4(SOX11):c.356G>C (p.Arg119Pro)
|
rs749901648
|
|
NM_003119.4(SPG7):c.1151-1G>C
|
|
|
NM_003119.4(SPG7):c.2241T>G (p.Ile747Met)
|
rs2152413170
|
|
NM_003124.5(SPR):c.28T>C (p.Cys10Arg)
|
|
|
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)
|
rs1555354198
|
|
NM_003172.4(SURF1):c.833+1G>A
|
rs782609482
|
|
NM_003235.5(TG):c.6185G>A (p.Trp2062Ter)
|
|
|
NM_003235.5(TG):c.6842G>A (p.Cys2281Tyr)
|
|
|
NM_003235.5(TG):c.7831_7837dup (p.Ala2613fs)
|
|
|
NM_003239.5(TGFB3):c.161C>T (p.Thr54Ile)
|
rs2140254476
|
|
NM_003280.3(TNNC1):c.469A>G (p.Met157Val)
|
|
|
NM_003394.4(WNT10B):c.115G>T (p.Glu39Ter)
|
|
|
NM_003476.5(CSRP3):c.583T>C (p.Ter195Arg)
|
|
|
NM_003482.4(KMT2D):c.15057_15061del (p.Leu5020fs)
|
|
|
NM_003482.4(KMT2D):c.2263dup (p.Arg755fs)
|
rs1555196984
|
|
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs)
|
rs398123753
|
|
NM_003482.4(KMT2D):c.9490C>T (p.Arg3164Trp)
|
|
|
NM_003718.5(CDK13):c.2252G>A (p.Arg751Gln)
|
rs1057519634
|
|
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)
|
rs878853160
|
|
NM_003742.4(ABCB11):c.3806C>T (p.Thr1269Ile)
|
|
|
NM_003742.4(ABCB11):c.99-2A>G
|
|
|
NM_003839.4(TNFRSF11A):c.46_63dup (p.Leu16_Leu21dup)
|
rs879253796
|
|
NM_003966.3(SEMA5A):c.85C>T (p.Gln29Ter)
|
|
|
NM_003998.4(NFKB1):c.2227+1G>A
|
rs2149222635
|
|
NM_003998.4(NFKB1):c.2353-1G>A
|
|
|
NM_003998.4(NFKB1):c.2818A>C (p.Thr940Pro)
|
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys)
|
rs397514498
|
|
NM_004069.6(AP2S1):c.44G>A (p.Arg15His)
|
rs397514499
|
|
NM_004183.4(BEST1):c.1622del (p.Leu541fs)
|
rs1942209287
|
|
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser)
|
rs1805143
|
|
NM_004187.5(KDM5C):c.1549dup (p.Asp517fs)
|
rs2146915836
|
|
NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp)
|
rs2146851322
|
|
NM_004187.5(KDM5C):c.2624G>A (p.Gly875Asp)
|
rs2146840102
|
|
NM_004247.4(EFTUD2):c.1719+1G>A
|
rs2145460853
|
|
NM_004247.4(EFTUD2):c.2033C>T (p.Thr678Met)
|
rs781402078
|
|
NM_004247.4(EFTUD2):c.702+2T>C
|
|
|
NM_004329.3(BMPR1A):c.176T>C (p.Leu59Ser)
|
|
|
NM_004329.3(BMPR1A):c.531-1G>T
|
rs1589288524
|
|
NM_004360.5(CDH1):c.1215del (p.Asn405fs)
|
rs2152133449
|
|
NM_004360.5(CDH1):c.754dup (p.Val252fs)
|
rs2152131075
|
|
NM_004364.5(CEBPA):c.209del (p.Pro70fs)
|
rs2145263762
|
|
NM_004364.5(CEBPA):c.928_945dup (p.Leu315_Glu316insThrGlnGlnLysValLeu)
|
rs2145258824
|
|
NM_004369.4(COL6A3):c.7321C>T (p.Arg2441Trp)
|
|
|
NM_004380.3(CREBBP):c.1776G>C (p.Trp592Cys)
|
|
|
NM_004380.3(CREBBP):c.3068del (p.Glu1023fs)
|
|
|
NM_004380.3(CREBBP):c.4579A>G (p.Thr1527Ala)
|
rs1186470200
|
|
NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser)
|
rs1064794963
|
|
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser)
|
rs1554767313
|
|
NM_004408.4(DNM1):c.457G>A (p.Glu153Lys)
|
rs1554772974
|
|
NM_004415.4(DSP):c.3444T>A (p.Cys1148Ter)
|
|
|
NM_004415.4(DSP):c.944G>C (p.Arg315Pro)
|
|
|
NM_004444.5(EPHB4):c.2420G>A (p.Gly807Glu)
|
rs2116416678
|
|
NM_004456.5(EZH2):c.235G>A (p.Gly79Arg)
|
|
|
NM_004484.4(GPC3):c.1413+1G>C
|
rs2124401754
|
|
NM_004523.4(KIF11):c.2308C>T (p.Gln770Ter)
|
|
|
NM_004562.3(PRKN):c.155del (p.Asn52fs)
|
rs754809877
|
|
NM_004573.3(PLCB2):c.1907-5T>G
|
|
|
NM_004606.5(TAF1):c.1291C>T (p.Arg431Cys)
|
|
|
NM_004629.2(FANCG):c.1003G>A (p.Ala335Thr)
|
|
|
NM_004656.4(BAP1):c.1480_1481del (p.Asp494fs)
|
rs2153226700
|
|
NM_004656.4(BAP1):c.206del (p.Thr69fs)
|
|
|
NM_004656.4(BAP1):c.437G>C (p.Arg146Thr)
|
rs1705201387
|
|
NM_004656.4(BAP1):c.932-151G>A
|
rs1705120040
|
|
NM_004667.6(HERC2):c.10711G>T (p.Ala3571Ser)
|
rs370009597
|
|
NM_004752.4(GCM2):c.1398G>C (p.Glu466Asp)
|
rs537546612
|
|
NM_004826.4(ECEL1):c.2069G>A (p.Trp690Ter)
|
|
|
NM_004855.5(PIGB):c.847-10A>G
|
rs779296101
|
|
NM_004859.4(CLTC):c.4411_4413del (p.Phe1471del)
|
|
|
NM_004958.4(MTOR):c.1078C>T (p.Arg360Trp)
|
|
|
NM_004959.5(NR5A1):c.1090G>T (p.Asp364Tyr)
|
rs2131277629
|
|
NM_004974.4(KCNA2):c.212C>T (p.Pro71Leu)
|
|
|
NM_005035.4(POLRMT):c.2498_2506del (p.Leu833_Pro835del)
|
|
|
NM_005120.3(MED12):c.6045G>A (p.Arg2015=)
|
|
|
NM_005121.3(MED13):c.2524C>T (p.Gln842Ter)
|
rs2143471373
|
|
NM_005121.3(MED13):c.4852G>C (p.Asp1618His)
|
|
|
NM_005141.5(FGB):c.284G>A (p.Cys95Tyr)
|
rs2110761933
|
|
NM_005157.6(ABL1):c.1511A>G (p.Asp504Gly)
|
|
|
NM_005159.5(ACTC1):c.756T>G (p.Ile252Met)
|
rs371940910
|
|
NM_005208.5(CRYBA1):c.501-2_522del
|
|
|
NM_005271.5(GLUD1):c.1070C>T (p.Ser357Phe)
|
|
|
NM_005271.5(GLUD1):c.1379G>C (p.Arg460Thr)
|
rs2133792215
|
|
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile)
|
rs121917758
|
|
NM_005373.3(MPL):c.757T>C (p.Trp253Arg)
|
|
|
NM_005427.4(TP73):c.1771C>T (p.Arg591Cys)
|
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005530.3(IDH3A):c.805G>A (p.Gly269Ser)
|
|
|
NM_005573.4(LMNB1):c.889C>T (p.Arg297Cys)
|
|
|
NM_005585.5(SMAD6):c.691C>T (p.Arg231Cys)
|
rs1395007983
|
|
NM_005592.4(MUSK):c.790_791delinsTGC (p.Arg264fs)
|
|
|
NM_005618.4(DLL1):c.974G>A (p.Cys325Tyr)
|
|
|
NM_005629.4(SLC6A8):c.950dup (p.Tyr317Ter)
|
rs1569539359
|
|
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)
|
rs397517154
|
|
NM_005633.4(SOS1):c.2764A>G (p.Ile922Val)
|
rs780420674
|
|
NM_005647.4(TBL1X):c.1369A>T (p.Ile457Phe)
|
|
|
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs)
|
rs1204045237
|
|
NM_005765.3(ATP6AP2):c.628G>T (p.Asp210Tyr)
|
rs2146543631
|
|
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)
|
rs779647632
|
|
NM_005861.4(STUB1):c.525-1G>A
|
rs2151505158
|
|
NM_005862.3(STAG1):c.3581C>T (p.Ala1194Val)
|
|
|
NM_006005.3(WFS1):c.1636G>A (p.Val546Ile)
|
|
|
NM_006015.6(ARID1A):c.495_500del (p.Ala166_Ala167del)
|
rs2124742134
|
|
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)
|
rs543698823
|
|
NM_006017.3(PROM1):c.631-2A>G
|
|
|
NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile)
|
rs797045074
|
|
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn)
|
rs483352809
|
|
NM_006147.4(IRF6):c.299C>G (p.Thr100Ser)
|
|
|
NM_006147.4(IRF6):c.696C>A (p.Tyr232Ter)
|
rs2102537180
|
|
NM_006158.5(NEFL):c.262A>C (p.Thr88Pro)
|
rs2117255599
|
|
NM_006214.4(PHYH):c.811del (p.Thr271fs)
|
rs2131634446
|
|
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del)
|
rs1724343994
|
|
NM_006260.5(DNAJC3):c.1305del (p.Glu436fs)
|
|
|
NM_006265.3(RAD21):c.548T>G (p.Leu183Ter)
|
|
|
NM_006268.5(DPF2):c.508G>C (p.Glu170Gln)
|
|
|
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter)
|
rs104894082
|
|
NM_006269.2(RP1):c.2035C>T (p.Gln679Ter)
|
rs104894083
|
|
NM_006269.2(RP1):c.32T>A (p.Ile11Asn)
|
|
|
NM_006343.3(MERTK):c.634A>C (p.Thr212Pro)
|
rs2104704629
|
|
NM_006408.4(AGR2):c.256+2T>C
|
|
|
NM_006445.4(PRPF8):c.6902C>T (p.Pro2301Leu)
|
rs2151109012
|
|
NM_006563.5(KLF1):c.649C>T (p.Gln217Ter)
|
rs2145927881
|
|
NM_006618.5(KDM5B):c.293G>C (p.Arg98Pro)
|
rs748231291
|
|
NM_006662.3(SRCAP):c.3738dup (p.Gln1247fs)
|
|
|
NM_006662.3(SRCAP):c.7215_7216del (p.Glu2405fs)
|
|
|
NM_006734.4(HIVEP2):c.4726T>C (p.Ser1576Pro)
|
rs2114644719
|
|
NM_006766.5(KAT6A):c.1133C>G (p.Ser378Ter)
|
rs2150886525
|
|
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter)
|
rs1395351821
|
|
NM_006767.4(LZTR1):c.1245_1246del (p.Glu415fs)
|
|
|
NM_006767.4(LZTR1):c.1353+1G>T
|
|
|
NM_006767.4(LZTR1):c.1397G>T (p.Arg466Leu)
|
rs587777180
|
|
NM_006767.4(LZTR1):c.1700G>A (p.Arg567His)
|
rs372417941
|
|
NM_006767.4(LZTR1):c.400G>C (p.Gly134Arg)
|
rs1440693988
|
|
NM_006767.4(LZTR1):c.401-1G>A
|
|
|
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)
|
|
|
NM_006828.4(ASCC3):c.2554C>T (p.Arg852Ter)
|
|
|
NM_006828.4(ASCC3):c.4682T>C (p.Phe1561Ser)
|
|
|
NM_006846.4(SPINK5):c.2452G>A (p.Ala818Thr)
|
|
|
NM_006846.4(SPINK5):c.2728A>G (p.Asn910Asp)
|
|
|
NM_006852.6(TLK2):c.907C>T (p.Arg303Ter)
|
rs138247472
|
|
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
|
rs730881014
|
|
NM_006915.3(RP2):c.358C>T (p.Arg120Ter)
|
rs104894927
|
|
NM_006922.4(SCN3A):c.595G>A (p.Val199Met)
|
|
|
NM_006947.4(SRP72):c.-10C>T
|
|
|
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)
|
rs61736587
|
|
NM_007118.4(TRIO):c.4382C>G (p.Pro1461Arg)
|
rs1747667518
|
|
NM_007118.4(TRIO):c.6181T>G (p.Tyr2061Asp)
|
|
|
NM_007194.4(CHEK2):c.1178C>G (p.Pro393Arg)
|
rs730881690
|
|
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter)
|
rs1248967885
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007194.4(CHEK2):c.1567del (p.Arg523fs)
|
rs587782684
|
|
NM_007194.4(CHEK2):c.1596del (p.Thr533fs)
|
rs587781519
|
|
NM_007194.4(CHEK2):c.655del (p.Glu219fs)
|
rs786202497
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
NM_007262.5(PARK7):c.105dup (p.Ala36fs)
|
rs781600849
|
|
NM_007294.4(BRCA1):c.*136C>G
|
|
|
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)
|
rs80357164
|
|
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)
|
rs80357888
|
|
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter)
|
rs80356904
|
|
NM_007294.4(BRCA1):c.1837A>G (p.Arg613Gly)
|
rs863224753
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs)
|
rs80357814
|
|
NM_007294.4(BRCA1):c.2133del (p.Lys711fs)
|
|
|
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)
|
rs80357664
|
|
NM_007294.4(BRCA1):c.3672del (p.Cys1225fs)
|
rs398122677
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.3813dup (p.Asn1272Ter)
|
rs397509108
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.4185+1G>T
|
rs80358076
|
|
NM_007294.4(BRCA1):c.4357+6T>C
|
rs80358143
|
|
NM_007294.4(BRCA1):c.4484+1del
|
rs397509181
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys)
|
rs41293463
|
|
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala)
|
rs1800751
|
|
NM_007294.4(BRCA1):c.547+1G>T
|
rs80358030
|
|
NM_007294.4(BRCA1):c.547+2T>A
|
rs80358047
|
|
NM_007325.5(GRIA3):c.949A>G (p.Ile317Val)
|
rs2147381088
|
|
NM_007327.4(GRIN1):c.1283del (p.Gly428fs)
|
|
|
NM_007327.4(GRIN1):c.2417C>T (p.Ala806Val)
|
rs1554770589
|
|
NM_012079.6(DGAT1):c.629_631del (p.Ser210del)
|
rs782577883
|
|
NM_012154.5(AGO2):c.1619T>C (p.Leu540Pro)
|
|
|
NM_012193.4(FZD4):c.1567G>C (p.Gly523Arg)
|
rs199577384
|
|
NM_012309.5(SHANK2):c.4930G>T (p.Glu1644Ter)
|
rs2058786429
|
|
NM_012330.4(KAT6B):c.1993+1G>A
|
rs2133733164
|
|
NM_012338.4(TSPAN12):c.212_218dup (p.Phe73fs)
|
rs1554403626
|
|
NM_013254.4(TBK1):c.1978C>T (p.Gln660Ter)
|
rs2136088954
|
|
NM_013275.6(ANKRD11):c.2329_2332del (p.Glu777fs)
|
rs2034485034
|
|
NM_013275.6(ANKRD11):c.4370_4371del (p.Lys1457fs)
|
rs2151750249
|
|
NM_013275.6(ANKRD11):c.7355G>C (p.Arg2452Pro)
|
rs781584370
|
|
NM_013275.6(ANKRD11):c.7684G>A (p.Glu2562Lys)
|
rs2151701503
|
|
NM_013275.6(ANKRD11):c.7753C>T (p.Arg2585Cys)
|
rs1567537304
|
|
NM_013436.5(NCKAP1):c.1291G>C (p.Val431Leu)
|
|
|
NM_014112.5(TRPS1):c.3659del (p.Arg1220fs)
|
|
|
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter)
|
rs2130531352
|
|
NM_014249.4(NR2E3):c.349G>A (p.Ala117Thr)
|
rs1259983553
|
|
NM_014270.5(SLC7A9):c.120G>A (p.Val40=)
|
rs140179068
|
|
NM_014423.4(AFF4):c.778A>G (p.Met260Val)
|
rs2150098305
|
|
NM_014845.6(FIG4):c.397A>G (p.Ile133Val)
|
rs777011122
|
|
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)
|
rs119103265
|
|
NM_014915.3(ANKRD26):c.-118C>T
|
rs1589393759
|
|
NM_014915.3(ANKRD26):c.-134G>A
|
rs863223318
|
|
NM_014921.5(ADGRL1):c.671G>A (p.Arg224His)
|
|
|
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)
|
rs121908511
|
|
NM_014946.4(SPAST):c.1616+1G>A
|
rs1553319327
|
|
NM_014946.4(SPAST):c.1664A>C (p.Asp555Ala)
|
|
|
NM_015021.3(ZNF292):c.2311C>T (p.Arg771Ter)
|
|
|
NM_015040.4(PIKFYVE):c.4511G>A (p.Trp1504Ter)
|
rs2125682979
|
|
NM_015046.7(SETX):c.1011-2A>G
|
|
|
NM_015065.3(EXPH5):c.4917C>A (p.Cys1639Ter)
|
rs763170220
|
|
NM_015175.3(NBEAL2):c.5125G>T (p.Glu1709Ter)
|
|
|
NM_015335.5(MED13L):c.4789A>G (p.Ser1597Gly)
|
rs2137274550
|
|
NM_015346.4(ZFYVE26):c.4846C>T (p.Gln1616Ter)
|
rs2140214976
|
|
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser)
|
rs1557737087
|
|
NM_015378.4(VPS13D):c.5725+2dup
|
|
|
NM_015488.5(PNKD):c.318A>T (p.Lys106Asn)
|
rs1421249273
|
|
NM_015512.5(DNAH1):c.10887del (p.Cys3630fs)
|
|
|
NM_015922.3(NSDHL):c.1098dup (p.Arg367fs)
|
rs121909834
|
|
NM_016006.6(ABHD5):c.1006G>T (p.Glu336Ter)
|
rs762662276
|
|
NM_016042.4(EXOSC3):c.202G>T (p.Gly68Cys)
|
rs745785017
|
|
NM_016042.4(EXOSC3):c.251G>T (p.Gly84Val)
|
rs2118981494
|
|
NM_016121.5(KCTD3):c.997A>T (p.Asn333Tyr)
|
|
|
NM_016169.4(SUFU):c.37_53dup (p.Gly19fs)
|
rs2135597189
|
|
NM_016203.4(PRKAG2):c.496C>T (p.Pro166Ser)
|
|
|
NM_016222.4(DDX41):c.1621+5G>T
|
rs2127435833
|
|
NM_016628.5(WAC):c.1380_1383del (p.Asn461fs)
|
|
|
NM_017534.6(MYH2):c.2176C>T (p.Gln726Ter)
|
|
|
NM_017617.5(NOTCH1):c.2372A>G (p.Asn791Ser)
|
rs2133358146
|
|
NM_017654.4(SAMD9):c.2414A>G (p.Asp805Gly)
|
|
|
NM_017780.4(CHD7):c.1989dup (p.Glu664fs)
|
rs2150669971
|
|
NM_017780.4(CHD7):c.2990T>C (p.Leu997Ser)
|
rs2150750132
|
|
NM_017780.4(CHD7):c.4515dup (p.Gly1506fs)
|
|
|
NM_017780.4(CHD7):c.487C>T (p.Gln163Ter)
|
|
|
NM_017780.4(CHD7):c.6045del (p.Phe2015fs)
|
|
|
NM_017802.4(DNAAF5):c.889G>A (p.Glu297Lys)
|
rs753466171
|
|
NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter)
|
rs387907093
|
|
NM_017950.4(CCDC40):c.2257dup (p.Glu753fs)
|
rs2143748349
|
|
NM_017950.4(CCDC40):c.3092_3093dup (p.Glu1032Ter)
|
rs2143781646
|
|
NM_017986.4(SLC52A1):c.1142_1153del
|
rs747792931
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_018082.6(POLR3B):c.664C>T (p.Arg222Ter)
|
|
|
NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter)
|
rs374268850
|
|
NM_018896.5(CACNA1G):c.3229C>T (p.Pro1077Ser)
|
|
|
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His)
|
rs755221106
|
|
NM_019032.6(ADAMTSL4):c.2270dup (p.Gly758fs)
|
rs747160538
|
|
NM_019032.6(ADAMTSL4):c.2493del (p.Ser832fs)
|
rs763535661
|
|
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)
|
rs199473693
|
|
NM_019066.5(MAGEL2):c.626T>C (p.Met209Thr)
|
|
|
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)
|
rs886039764
|
|
NM_019616.4(F7):c.748G>A (p.Asp250Asn)
|
|
|
NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg)
|
rs121434621
|
|
NM_020166.5(MCCC1):c.223A>G (p.Thr75Ala)
|
|
|
NM_020166.5(MCCC1):c.684dup (p.Glu229fs)
|
|
|
NM_020297.4(ABCC9):c.3640G>A (p.Ala1214Thr)
|
rs1943555710
|
|
NM_020297.4(ABCC9):c.4375C>T (p.Leu1459Phe)
|
|
|
NM_020717.5(SHROOM4):c.384G>T (p.Trp128Cys)
|
|
|
NM_020738.4(KIDINS220):c.4169A>G (p.Tyr1390Cys)
|
|
|
NM_020975.6(RET):c.143C>T (p.Thr48Met)
|
rs1427186016
|
|
NM_020975.6(RET):c.1921G>C (p.Ala641Pro)
|
rs377767411
|
|
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)
|
rs75030001
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020988.3(GNAO1):c.724-8G>A
|
rs1085307876
|
|
NM_021008.4(DEAF1):c.737G>C (p.Arg246Thr)
|
rs1554944271
|
|
NM_021095.4(SLC5A6):c.422_423del (p.Val141fs)
|
rs749980819
|
|
NM_021096.4(CACNA1I):c.854C>T (p.Pro285Leu)
|
|
|
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter)
|
rs2151665554
|
|
NM_021625.5(TRPV4):c.947G>A (p.Arg316His)
|
rs387906905
|
|
NM_021738.3(SVIL):c.3386A>G (p.Glu1129Gly)
|
rs2132529196
|
|
NM_021870.2(FGG):c.901C>T (p.Arg301Cys)
|
rs121913087
|
|
NM_021870.3(FGG):c.1030G>C (p.Asp344His)
|
|
|
NM_021871.4(FGA):c.713del (p.Lys238fs)
|
|
|
NM_021954.4(GJA3):c.56C>T (p.Thr19Met)
|
rs1114167307
|
|
NM_022114.4(PRDM16):c.1185_1186del (p.Ile395fs)
|
|
|
NM_022132.5(MCCC2):c.1073-27T>C
|
|
|
NM_022437.3(ABCG8):c.562-1G>A
|
rs1317214046
|
|
NM_022455.5(NSD1):c.4459A>G (p.Lys1487Glu)
|
|
|
NM_022455.5(NSD1):c.6208T>C (p.Cys2070Arg)
|
rs1759551453
|
|
NM_022893.4(BCL11A):c.1A>G (p.Met1Val)
|
rs1573109761
|
|
NM_023110.3(FGFR1):c.113dup (p.Glu39fs)
|
|
|
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)
|
rs121907906
|
|
NM_024426.6(WT1):c.410del (p.Pro137fs)
|
|
|
NM_024426.6(WT1):c.769C>T (p.Gln257Ter)
|
|
|
NM_024529.5(CDC73):c.69C>G (p.Asp23Glu)
|
rs1675465120
|
|
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs)
|
rs1222150652
|
|
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)
|
rs786203714
|
|
NM_024675.4(PALB2):c.1947dup (p.Glu650fs)
|
rs515726075
|
|
NM_024675.4(PALB2):c.2325dup (p.Phe776fs)
|
rs876659997
|
|
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)
|
rs886039480
|
|
NM_024675.4(PALB2):c.2514+1G>C
|
rs886039729
|
|
NM_024675.4(PALB2):c.2724A>T (p.Lys908Asn)
|
rs1555459932
|
|
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)
|
rs730881869
|
|
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)
|
rs118203999
|
|
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)
|
rs876659036
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_024675.4(PALB2):c.3296del (p.Thr1099fs)
|
rs1966508003
|
|
NM_024675.4(PALB2):c.3351-7C>T
|
rs2142255767
|
|
NM_024675.4(PALB2):c.3386C>T (p.Ala1129Val)
|
rs1567205179
|
|
NM_024675.4(PALB2):c.3418del (p.Trp1140fs)
|
rs2142254289
|
|
NM_024675.4(PALB2):c.487_488del (p.Val163fs)
|
rs745533713
|
|
NM_024675.4(PALB2):c.693A>T (p.Lys231Asn)
|
rs876658847
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024675.4(PALB2):c.998C>A (p.Thr333Asn)
|
rs1567221840
|
|
NM_024721.5(ZFHX4):c.9048C>A (p.Tyr3016Ter)
|
|
|
NM_024747.6(HPS6):c.1267C>T (p.Pro423Ser)
|
|
|
NM_024747.6(HPS6):c.1274A>T (p.Glu425Val)
|
|
|
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu)
|
rs587780332
|
|
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)
|
rs758550675
|
|
NM_030662.4(MAP2K2):c.169T>C (p.Phe57Leu)
|
rs121434498
|
|
NM_030773.4(TUBB1):c.624T>A (p.Tyr208Ter)
|
rs2146377060
|
|
NM_030787.4(CFHR5):c.1321C>T (p.Arg441Cys)
|
|
|
NM_031407.7(HUWE1):c.1445C>T (p.Pro482Leu)
|
rs2066586691
|
|
NM_031844.3(HNRNPU):c.520C>T (p.Gln174Ter)
|
rs886041983
|
|
NM_031921.6(ATAD3B):c.1639G>C (p.Gly547Arg)
|
|
|
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs)
|
rs2145334953
|
|
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.359G>A (p.Gly120Asp)
|
rs730881637
|
|
NM_032119.4(ADGRV1):c.10974+1G>A
|
rs1754560628
|
|
NM_032119.4(ADGRV1):c.18082C>T (p.Leu6028Phe)
|
|
|
NM_032119.4(ADGRV1):c.3901G>T (p.Asp1301Tyr)
|
rs2149466957
|
|
NM_032122.5(DTNBP1):c.872T>G (p.Leu291Ter)
|
rs2127784434
|
|
NM_032208.3(ANTXR1):c.1434+1G>A
|
|
|
NM_032217.5(ANKRD17):c.1887del (p.Gly630fs)
|
|
|
NM_032271.3(TRAF7):c.1570C>T (p.Arg524Trp)
|
rs2093132159
|
|
NM_032271.3(TRAF7):c.1783C>G (p.Leu595Val)
|
rs2141298490
|
|
NM_032492.4(JAGN1):c.*9T>C
|
rs11554811
|
|
NM_032620.4(GTPBP3):c.521G>C (p.Arg174Pro)
|
rs766510741
|
|
NM_032638.5(GATA2):c.1322_1325dup (p.His442fs)
|
rs2107667819
|
|
NM_032856.5(WDR73):c.6_9del (p.Asp2fs)
|
|
|
NM_033022.4(RPS24):c.3G>A (p.Met1Ile)
|
rs2131972918
|
|
NM_033305.3(VPS13A):c.1A>T (p.Met1Leu)
|
rs2131029946
|
|
NM_033380.3(COL4A5):c.1332_1335dup (p.Pro446fs)
|
rs2147797210
|
|
NM_033380.3(COL4A5):c.2917+2T>A
|
|
|
NM_033380.3(COL4A5):c.3016+1G>A
|
|
|
NM_033380.3(COL4A5):c.834+1G>T
|
|
|
NM_052867.4(NALCN):c.4104G>T (p.Arg1368Ser)
|
|
|
NM_057175.5(NAA15):c.309C>G (p.Tyr103Ter)
|
|
|
NM_057175.5(NAA15):c.779del (p.Tyr260fs)
|
rs2110930242
|
|
NM_058004.4(PI4KA):c.3646T>C (p.Trp1216Arg)
|
|
|
NM_058004.4(PI4KA):c.4489G>A (p.Ala1497Thr)
|
|
|
NM_058174.3(COL6A2):c.2654C>G (p.Thr885Ser)
|
|
|
NM_058216.3(RAD51C):c.222A>T (p.Arg74Ser)
|
|
|
NM_130837.3(OPA1):c.1111A>G (p.Arg371Gly)
|
|
|
NM_130837.3(OPA1):c.1348G>A (p.Val450Met)
|
|
|
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys)
|
rs1064793307
|
|
NM_133433.4(NIPBL):c.1530C>A (p.Tyr510Ter)
|
|
|
NM_133433.4(NIPBL):c.3213G>A (p.Met1071Ile)
|
rs2149662601
|
|
NM_133433.4(NIPBL):c.5467A>G (p.Asn1823Asp)
|
rs750864821
|
|
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His)
|
rs587784024
|
|
NM_134261.3(RORA):c.409G>A (p.Gly137Arg)
|
|
|
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp)
|
rs753688777
|
|
NM_138477.4(CDAN1):c.557C>G (p.Pro186Arg)
|
|
|
NM_138694.4(PKHD1):c.10180T>G (p.Cys3394Gly)
|
|
|
NM_138694.4(PKHD1):c.3170G>A (p.Cys1057Tyr)
|
|
|
NM_138694.4(PKHD1):c.6818C>T (p.Thr2273Met)
|
|
|
NM_138711.6(PPARG):c.78C>G (p.His26Gln)
|
|
|
NM_139027.6(ADAMTS13):c.2293C>T (p.Arg765Trp)
|
|
|
NM_139285.4(GAS2L2):c.1340C>G (p.Thr447Ser)
|
|
|
NM_144687.4(NLRP12):c.2056_2057dup (p.Leu687fs)
|
|
|
NM_144997.7(FLCN):c.1021del (p.Arg341fs)
|
rs1060502368
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1426dup (p.Asp476fs)
|
rs1131690835
|
|
NM_144997.7(FLCN):c.871+170_871+178del
|
rs750424403
|
|
NM_144997.7(FLCN):c.946_947del (p.Ser316fs)
|
rs1597591875
|
|
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771
|
|
NM_152419.3(HGSNAT):c.1708del (p.Thr570fs)
|
rs1804782152
|
|
NM_152515.5(CKAP2L):c.501del (p.Asn167fs)
|
rs2104884982
|
|
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs)
|
rs180177327
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.387+1G>A
|
|
|
NM_153766.3(KCNJ1):c.118C>T (p.Gln40Ter)
|
|
|
NM_153766.3(KCNJ1):c.241T>C (p.Tyr81His)
|
|
|
NM_170707.4(LMNA):c.324del (p.Val109fs)
|
|
|
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)
|
rs267607571
|
|
NM_172351.3(CD46):c.191G>T (p.Cys64Phe)
|
rs1655633353
|
|
NM_173495.3(PTCHD1):c.145GAG[1] (p.Glu50del)
|
|
|
NM_173500.4(TTBK2):c.2476A>G (p.Thr826Ala)
|
|
|
NM_174878.3(CLRN1):c.502dup (p.Ile168fs)
|
rs746523071
|
|
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met)
|
rs1775879070
|
|
NM_175914.5(HNF4A):c.607G>A (p.Gly203Ser)
|
rs2146437968
|
|
NM_175914.5(HNF4A):c.827-1G>A
|
rs2146467548
|
|
NM_177398.4(LMX1A):c.317T>G (p.Phe106Cys)
|
|
|
NM_177402.5(SYT2):c.923C>T (p.Pro308Leu)
|
rs587777782
|
|
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter)
|
rs754081635
|
|
NM_177438.3(DICER1):c.5326C>T (p.Gln1776Ter)
|
rs2139811410
|
|
NM_177438.3(DICER1):c.712del (p.Thr238fs)
|
rs2140259982
|
|
NM_177559.3(CSNK2A1):c.468T>A (p.Asp156Glu)
|
rs1064795110
|
|
NM_177924.5(ASAH1):c.94A>T (p.Arg32Ter)
|
rs1588999386
|
|
NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys)
|
rs587777357
|
|
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter)
|
rs770804941
|
|
NM_182931.3(KMT2E):c.658G>A (p.Val220Ile)
|
|
|
NM_182961.4(SYNE1):c.16849C>T (p.Arg5617Ter)
|
rs758379604
|
|
NM_182961.4(SYNE1):c.19450C>T (p.Gln6484Ter)
|
rs2090447154
|
|
NM_182961.4(SYNE1):c.2624del (p.Gly875fs)
|
|
|
NM_183357.3(ADCY5):c.593_604dup (p.Ala201_Val202insGlyProGlyAla)
|
rs2107658667
|
|
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs)
|
rs1057517753
|
|
NM_194454.3(KRIT1):c.1255-1_1256del
|
rs1554514380
|
|
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter)
|
rs1563313372
|
|
NM_197968.4(ZMYM2):c.2833dup (p.Ala945fs)
|
rs2140777563
|
|
NM_197968.4(ZMYM2):c.978del (p.Val327fs)
|
|
|
NM_198252.3(GSN):c.1324T>C (p.Trp442Arg)
|
rs2062427908
|
|
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr)
|
rs387907249
|
|
NM_198253.3(TERT):c.2468+103G>A
|
|
|
NM_198253.3(TERT):c.2912G>A (p.Arg971His)
|
rs1748153358
|
|
NM_198334.3(GANAB):c.1429T>C (p.Tyr477His)
|
|
|
NM_198503.5(KCNT2):c.827del (p.Gln276fs)
|
|
|
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)
|
rs796052505
|
|
NM_201589.4(MAFA):c.121T>G (p.Phe41Val)
|
|
|
NM_201589.4(MAFA):c.767A>C (p.Lys256Thr)
|
|
|
NM_203447.4(DOCK8):c.4184dup (p.Asn1395fs)
|
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val)
|
rs1553257673
|
|
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)
|
rs398124618
|
|
NM_206933.4(USH2A):c.126C>G (p.Asn42Lys)
|
rs774473277
|
|
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)
|
rs762159022
|
|
NM_206933.4(USH2A):c.2168-2A>G
|
rs993185407
|
|
NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter)
|
rs2102451648
|
|
NM_207034.3(EDN3):c.377C>G (p.Pro126Arg)
|
|
|
NM_207122.2(EXT2):c.1201C>T (p.Gln401Ter)
|
|
|
NM_207352.4(CYP4V2):c.1219G>T (p.Glu407Ter)
|
rs2126600867
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
der(6)t(6;10)(p25.2;q26.3)
|
|
|