NM_025099.6(CTC1):c.435+3=
|
rs6503093
|
0.99999
|
NM_001363.5(DKC1):c.369G>T (p.Thr123=)
|
rs2728532
|
0.99384
|
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val)
|
rs3027238
|
0.94552
|
NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=)
|
rs3208007
|
0.81548
|
NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His)
|
rs3208008
|
0.81536
|
NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=)
|
rs6062302
|
0.81476
|
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=)
|
rs2236506
|
0.79477
|
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val)
|
rs3826543
|
0.77529
|
NM_018648.4(NOP10):c.55-15G>C
|
rs422388
|
0.43627
|
NM_025099.6(CTC1):c.*2338T>C
|
rs8078338
|
0.40460
|
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly)
|
rs2287499
|
0.32078
|
NM_025099.6(CTC1):c.*631T>G
|
rs3027247
|
0.26879
|
NM_025099.6(CTC1):c.990C>T (p.Asp330=)
|
rs74506939
|
0.15238
|
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=)
|
rs2287498
|
0.13667
|
NM_001283009.2(RTEL1):c.3499+5G>T
|
rs41309931
|
0.10067
|
NM_001283009.2(RTEL1):c.582T>C (p.Ile194=)
|
rs73920935
|
0.08708
|
NM_001363.5(DKC1):c.1461C>T (p.Ala487=)
|
rs1127051
|
0.07549
|
NM_025099.6(CTC1):c.*1807G>T
|
rs3027251
|
0.06914
|
NM_001099274.3(TINF2):c.400-20_400-18dup
|
rs58372573
|
0.06483
|
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=)
|
rs61753459
|
0.06433
|
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=)
|
rs10141326
|
0.06408
|
NM_001283009.2(RTEL1):c.879T>C (p.Gly293=)
|
rs6010616
|
0.05825
|
NM_001283009.2(RTEL1):c.371A>G (p.Asn124Ser)
|
rs3848668
|
0.05764
|
NM_001283009.2(RTEL1):c.786G>A (p.Ser262=)
|
rs6011020
|
0.05175
|
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=)
|
rs34016213
|
0.04793
|
NM_001283009.2(RTEL1):c.1482-6G>A
|
rs76364377
|
0.04646
|
NM_025099.6(CTC1):c.2386-13T>G
|
rs3027237
|
0.04073
|
NM_025099.6(CTC1):c.2160C>T (p.Thr720=)
|
rs3027235
|
0.04058
|
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp)
|
rs17102313
|
0.03737
|
NM_001283009.2(RTEL1):c.2823G>C (p.Glu941Asp)
|
rs61736614
|
0.03406
|
NM_001283009.2(RTEL1):c.978G>A (p.Glu326=)
|
rs41310197
|
0.02889
|
NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr)
|
rs61736615
|
0.02652
|
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser)
|
rs17880282
|
0.02475
|
NM_025099.6(CTC1):c.*1450G>A
|
rs3027250
|
0.02223
|
NM_025099.6(CTC1):c.366A>G (p.Ala122=)
|
rs73244859
|
0.02139
|
NM_017838.4(NHP2):c.160+16G>C
|
rs41285577
|
0.01797
|
NM_001283009.2(RTEL1):c.3101C>A (p.Pro1034His)
|
rs115610405
|
0.01644
|
NM_025099.6(CTC1):c.*2087A>G
|
rs75503577
|
0.01557
|
NM_025099.6(CTC1):c.*43C>T
|
rs3027245
|
0.01554
|
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=)
|
rs3027242
|
0.01548
|
NM_025099.6(CTC1):c.126A>G (p.Val42=)
|
rs116271319
|
0.01470
|
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly)
|
rs78390421
|
0.01469
|
NM_025099.6(CTC1):c.1307G>A (p.Arg436His)
|
rs75790638
|
0.01383
|
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala)
|
rs62620189
|
0.01383
|
NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln)
|
rs35640778
|
0.01190
|
NM_025099.6(CTC1):c.1383G>A (p.Gln461=)
|
rs145192682
|
0.01148
|
NM_001283009.2(RTEL1):c.1192-9del
|
rs200008996
|
0.01145
|
NM_001283009.2(RTEL1):c.2546G>A (p.Gly849Asp)
|
rs190887884
|
0.01112
|
NM_025099.6(CTC1):c.3591C>G (p.Ser1197=)
|
rs115990839
|
0.01042
|
NM_017838.4(NHP2):c.351C>T (p.Ala117=)
|
rs115334254
|
0.01019
|
NM_025099.6(CTC1):c.197+15C>T
|
rs111473388
|
0.00989
|
NM_001283009.2(RTEL1):c.936G>A (p.Leu312=)
|
rs41302954
|
0.00947
|
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu)
|
rs62637610
|
0.00947
|
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=)
|
rs62637613
|
0.00946
|
NM_001283009.2(RTEL1):c.103-6G>A
|
rs57695352
|
0.00707
|
NM_001099274.3(TINF2):c.721C>T (p.Pro241Ser)
|
rs17102311
|
0.00688
|
NM_025099.6(CTC1):c.*3231A>G
|
rs139845972
|
0.00670
|
NM_025099.6(CTC1):c.*825C>T
|
rs3027248
|
0.00659
|
NM_025099.6(CTC1):c.*2006T>C
|
rs57270818
|
0.00633
|
NM_001363.5(DKC1):c.369= (p.Thr123=)
|
rs2728532
|
0.00616
|
NM_017838.4(NHP2):c.302G>A (p.Arg101Gln)
|
rs145890370
|
0.00615
|
NM_001283009.2(RTEL1):c.2898G>C (p.Glu966Asp)
|
rs115464632
|
0.00579
|
NM_025099.6(CTC1):c.*2848A>C
|
rs73975813
|
0.00571
|
NM_001143992.2(WRAP53):c.936C>T (p.Cys312=)
|
rs73248508
|
0.00565
|
NM_001143992.2(WRAP53):c.1482A>G (p.Glu494=)
|
rs140360074
|
0.00540
|
NM_025099.6(CTC1):c.1617+11G>A
|
rs114425026
|
0.00535
|
NM_001143992.2(WRAP53):c.1641G>T (p.Leu547=)
|
rs146994329
|
0.00528
|
NM_025099.6(CTC1):c.*1668G>A
|
rs114198389
|
0.00519
|
NM_025099.6(CTC1):c.*1041A>G
|
rs148405704
|
0.00430
|
NM_001283009.2(RTEL1):c.2775C>T (p.Ser925=)
|
rs12480346
|
0.00414
|
NM_001283009.2(RTEL1):c.1953C>T (p.Arg651=)
|
rs79210260
|
0.00411
|
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=)
|
rs184422577
|
0.00410
|
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=)
|
rs35307405
|
0.00385
|
NM_017838.4(NHP2):c.352G>A (p.Ala118Thr)
|
rs139588879
|
0.00368
|
NM_001283009.2(RTEL1):c.1017C>T (p.Ser339=)
|
rs35877957
|
0.00353
|
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=)
|
rs117234138
|
0.00329
|
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=)
|
rs116900568
|
0.00329
|
NM_001283009.2(RTEL1):c.396-37C>T
|
rs41297642
|
0.00322
|
NM_001363.5(DKC1):c.776A>C (p.His259Pro)
|
rs61757608
|
0.00316
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
NM_001283009.2(RTEL1):c.301+7C>T
|
rs200648296
|
0.00276
|
NM_001283009.2(RTEL1):c.3693G>A (p.Thr1231=)
|
rs181080831
|
0.00272
|
NM_198253.3(TERT):c.1812A>G (p.Ala604=)
|
rs33959226
|
0.00255
|
NM_001283009.2(RTEL1):c.3823-5C>G
|
rs141522376
|
0.00252
|
NM_025099.6(CTC1):c.*1369A>G
|
rs150798403
|
0.00246
|
NM_001363.4(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
NM_198253.3(TERT):c.969G>A (p.Pro323=)
|
rs148549782
|
0.00224
|
NM_198253.3(TERT):c.1574-7G>A
|
rs34846301
|
0.00220
|
NM_001283009.2(RTEL1):c.2414-6C>T
|
rs376868750
|
0.00214
|
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=)
|
rs41306796
|
0.00207
|
NM_198253.3(TERT):c.3105C>T (p.Val1035=)
|
rs181612536
|
0.00207
|
NM_025099.6(CTC1):c.*1176C>T
|
rs149513613
|
0.00203
|
NM_001099274.3(TINF2):c.1129+15T>A
|
rs200599508
|
0.00197
|
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg)
|
rs150319104
|
0.00192
|
NM_022762.5(RMND5B):c.*1820A>G
|
rs201653595
|
0.00188
|
NM_198253.3(TERT):c.2517G>A (p.Thr839=)
|
rs140124989
|
0.00178
|
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile)
|
rs150461578
|
0.00176
|
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala)
|
rs202093758
|
0.00166
|
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg)
|
rs189265179
|
0.00163
|
NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=)
|
rs148329158
|
0.00162
|
NM_025099.6(CTC1):c.*558G>A
|
rs112446369
|
0.00150
|
NM_025099.6(CTC1):c.477G>T (p.Leu159=)
|
rs200658590
|
0.00148
|
NM_001283009.2(RTEL1):c.1605G>A (p.Glu535=)
|
rs114292675
|
0.00144
|
NM_025099.6(CTC1):c.13C>T (p.Arg5Trp)
|
rs201280372
|
0.00140
|
NM_025099.6(CTC1):c.2478A>G (p.Thr826=)
|
rs200643329
|
0.00136
|
NM_001099274.3(TINF2):c.400-9C>T
|
rs201087708
|
0.00128
|
NM_001283009.2(RTEL1):c.2661C>T (p.Pro887=)
|
rs3848671
|
0.00128
|
NM_001283009.2(RTEL1):c.3561G>A (p.Gln1187=)
|
rs138074015
|
0.00128
|
NM_025099.6(CTC1):c.*1844G>A
|
rs3027252
|
0.00127
|
NM_198253.3(TERT):c.534C>T (p.Leu178=)
|
rs370420108
|
0.00124
|
NM_017838.4(NHP2):c.270A>G (p.Val90=)
|
rs148179279
|
0.00121
|
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter)
|
rs147714487
|
0.00118
|
NM_198253.3(TERT):c.2769G>A (p.Pro923=)
|
rs200174990
|
0.00118
|
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)
|
rs200440641
|
0.00117
|
NM_025099.6(CTC1):c.147C>T (p.Val49=)
|
rs201492796
|
0.00114
|
NM_001283009.2(RTEL1):c.3175G>A (p.Ala1059Thr)
|
rs115303435
|
0.00112
|
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr)
|
rs143550996
|
0.00108
|
NM_001099274.3(TINF2):c.771C>T (p.His257=)
|
rs75124018
|
0.00106
|
NM_001283009.2(RTEL1):c.395+12G>A
|
rs201572070
|
0.00106
|
NM_025099.6(CTC1):c.*1205T>G
|
rs183725401
|
0.00106
|
NM_025099.6(CTC1):c.663T>C (p.Gly221=)
|
rs138725914
|
0.00105
|
NM_198253.3(TERT):c.572G>C (p.Ser191Thr)
|
rs11952056
|
0.00100
|
NM_001143992.2(WRAP53):c.1521C>T (p.His507=)
|
rs146651237
|
0.00096
|
NM_001283009.2(RTEL1):c.2810C>T (p.Pro937Leu)
|
rs140986557
|
0.00096
|
NM_001283009.2(RTEL1):c.3049G>A (p.Asp1017Asn)
|
rs61736617
|
0.00096
|
NM_001143992.2(WRAP53):c.1075C>T (p.Pro359Ser)
|
rs149359927
|
0.00091
|
NM_001363.5(DKC1):c.771+13G>A
|
rs201592812
|
0.00091
|
NM_001283009.2(RTEL1):c.762C>T (p.Asn254=)
|
rs150877719
|
0.00090
|
NM_198253.3(TERT):c.1884C>T (p.Asp628=)
|
rs143992655
|
0.00088
|
NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=)
|
rs12625047
|
0.00086
|
NM_001283009.2(RTEL1):c.3702G>A (p.Pro1234=)
|
rs368176460
|
0.00086
|
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser)
|
rs567650961
|
0.00084
|
NM_001283009.2(RTEL1):c.1348+6G>A
|
rs371358328
|
0.00083
|
NM_025099.6(CTC1):c.1728G>A (p.Pro576=)
|
rs78320653
|
0.00083
|
NM_001283009.2(RTEL1):c.2787C>T (p.Ala929=)
|
rs115030322
|
0.00081
|
NM_025099.6(CTC1):c.*3186G>A
|
rs8072826
|
0.00081
|
NM_025099.6(CTC1):c.1401C>T (p.Tyr467=)
|
rs150409406
|
0.00079
|
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser)
|
rs199422321
|
0.00077
|
NM_001283009.2(RTEL1):c.2940T>C (p.Pro980=)
|
rs141618172
|
0.00074
|
NM_025099.6(CTC1):c.*2115C>G
|
rs187344168
|
0.00072
|
NM_025099.6(CTC1):c.*234C>T
|
rs570408909
|
0.00070
|
NM_025099.6(CTC1):c.*1156G>A
|
rs538807522
|
0.00069
|
NM_001283009.2(RTEL1):c.1349-13C>T
|
rs376698655
|
0.00068
|
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu)
|
rs139083375
|
0.00065
|
NM_025099.6(CTC1):c.*1410A>G
|
rs570429563
|
0.00064
|
NM_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn)
|
rs116247954
|
0.00062
|
NM_001283009.2(RTEL1):c.3054C>G (p.Pro1018=)
|
rs147894642
|
0.00062
|
NM_001363.5(DKC1):c.1293G>A (p.Val431=)
|
rs138065506
|
0.00060
|
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)
|
rs199422322
|
0.00058
|
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile)
|
rs199834369
|
0.00055
|
NM_001283009.2(RTEL1):c.3251C>T (p.Thr1084Ile)
|
rs142457144
|
0.00055
|
NM_001363.5(DKC1):c.172-12G>A
|
rs376783942
|
0.00055
|
NM_198253.3(TERT):c.1953C>T (p.Ala651=)
|
rs201088708
|
0.00054
|
NM_025099.6(CTC1):c.3221+16G>A
|
rs372958727
|
0.00052
|
NM_198253.3(TERT):c.3351C>T (p.Ala1117=)
|
rs192377676
|
0.00052
|
NM_001283009.2(RTEL1):c.973C>T (p.Leu325=)
|
rs142739953
|
0.00051
|
NM_025099.6(CTC1):c.*1936A>G
|
rs767476369
|
0.00051
|
NM_001283009.2(RTEL1):c.971G>A (p.Arg324His)
|
rs113684274
|
0.00050
|
NM_025099.6(CTC1):c.2522G>A (p.Arg841His)
|
rs780358670
|
0.00049
|
NM_025099.6(CTC1):c.*1930A>G
|
rs780992571
|
0.00048
|
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln)
|
rs201891953
|
0.00048
|
NM_001283009.2(RTEL1):c.1205T>C (p.Val402Ala)
|
rs137956338
|
0.00046
|
NM_001283009.2(RTEL1):c.1371C>T (p.Cys457=)
|
rs138399496
|
0.00046
|
NM_025099.6(CTC1):c.1140G>T (p.Gly380=)
|
rs201392995
|
0.00046
|
NM_001283009.2(RTEL1):c.2706C>T (p.Ala902=)
|
rs116788553
|
0.00045
|
NM_025099.6(CTC1):c.2508C>G (p.Ser836=)
|
rs146214808
|
0.00045
|
NM_001283009.2(RTEL1):c.959-10C>T
|
rs202035834
|
0.00044
|
NM_025099.6(CTC1):c.189C>G (p.Leu63=)
|
rs188658691
|
0.00044
|
NM_001283009.2(RTEL1):c.1189C>G (p.Gln397Glu)
|
rs150285674
|
0.00043
|
NM_001283009.2(RTEL1):c.1482-7C>T
|
rs189271525
|
0.00043
|
NM_025099.6(CTC1):c.3221+13G>C
|
rs115684610
|
0.00041
|
NM_001283009.2(RTEL1):c.3311C>T (p.Thr1104Ile)
|
rs190297758
|
0.00040
|
NM_001283009.2(RTEL1):c.612C>T (p.His204=)
|
rs142711955
|
0.00040
|
NM_025099.6(CTC1):c.*1130G>C
|
rs375962823
|
0.00040
|
NM_198253.3(TERT):c.1968G>A (p.Ser656=)
|
rs368784316
|
0.00039
|
NM_017838.4(NHP2):c.190G>A (p.Val64Met)
|
rs79031130
|
0.00038
|
NM_025099.6(CTC1):c.1734C>T (p.Ala578=)
|
rs374985738
|
0.00036
|
NM_025099.6(CTC1):c.197+16G>A
|
rs370799756
|
0.00036
|
NM_001143992.2(WRAP53):c.720A>G (p.Pro240=)
|
rs199901527
|
0.00035
|
NM_001283009.2(RTEL1):c.1833C>T (p.Ala611=)
|
rs116502880
|
0.00035
|
NM_001283009.2(RTEL1):c.2796C>T (p.Ala932=)
|
rs143740470
|
0.00035
|
NM_001283009.2(RTEL1):c.2851+8G>C
|
rs376962635
|
0.00035
|
NM_001363.5(DKC1):c.1317C>T (p.Ala439=)
|
rs143207180
|
0.00035
|
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe)
|
rs542477730
|
0.00035
|
NM_198253.3(TERT):c.2775C>T (p.His925=)
|
rs34528119
|
0.00035
|
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)
|
rs142777869
|
0.00034
|
NM_017838.4(NHP2):c.369C>T (p.Pro123=)
|
rs375285426
|
0.00034
|
NM_025099.6(CTC1):c.*1853G>A
|
rs540866407
|
0.00034
|
NM_025099.6(CTC1):c.*460C>T
|
rs371544637
|
0.00034
|
NM_025099.6(CTC1):c.3568G>A (p.Val1190Met)
|
rs371036203
|
0.00034
|
NM_025099.6(CTC1):c.*797C>T
|
rs142486253
|
0.00033
|
NM_001283009.2(RTEL1):c.1260C>T (p.Ser420=)
|
rs188479221
|
0.00032
|
NM_001283009.2(RTEL1):c.2146G>A (p.Ala716Thr)
|
rs200003693
|
0.00032
|
NM_001283009.2(RTEL1):c.372C>T (p.Asn124=)
|
rs61736622
|
0.00032
|
NM_001283009.2(RTEL1):c.489C>T (p.Cys163=)
|
rs142058793
|
0.00032
|
NM_025099.6(CTC1):c.*1540C>T
|
rs755418655
|
0.00032
|
NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp)
|
rs199698527
|
0.00032
|
NM_025099.6(CTC1):c.2174C>G (p.Pro725Arg)
|
rs371046424
|
0.00032
|
NM_001283009.2(RTEL1):c.3080C>T (p.Pro1027Leu)
|
rs141782041
|
0.00031
|
NM_001283009.2(RTEL1):c.3590G>C (p.Gly1197Ala)
|
rs138500086
|
0.00031
|
NM_025099.6(CTC1):c.1207-4C>T
|
rs369904656
|
0.00031
|
NM_025099.6(CTC1):c.194A>G (p.Tyr65Cys)
|
rs201731405
|
0.00031
|
NM_025099.6(CTC1):c.2737G>A (p.Ala913Thr)
|
rs201203345
|
0.00031
|
NM_001099274.3(TINF2):c.1059G>A (p.Lys353=)
|
rs374320783
|
0.00030
|
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr)
|
rs192423622
|
0.00030
|
NM_001283009.2(RTEL1):c.1018G>A (p.Gly340Ser)
|
rs145845927
|
0.00030
|
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp)
|
rs139221232
|
0.00030
|
NM_198253.3(TERT):c.2991G>A (p.Val997=)
|
rs376266401
|
0.00030
|
NM_001283009.2(RTEL1):c.1037+10G>A
|
rs368590236
|
0.00029
|
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met)
|
rs77086616
|
0.00029
|
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser)
|
rs183556317
|
0.00029
|
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)
|
rs146700772
|
0.00028
|
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu)
|
rs376216833
|
0.00028
|
NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser)
|
rs138188555
|
0.00027
|
NM_017838.4(NHP2):c.160+18G>T
|
rs202078932
|
0.00027
|
NM_025099.6(CTC1):c.3079G>A (p.Ala1027Thr)
|
rs374126761
|
0.00027
|
NM_001283009.2(RTEL1):c.3463G>A (p.Val1155Met)
|
rs149145821
|
0.00026
|
NM_025099.6(CTC1):c.*536T>G
|
rs533538191
|
0.00025
|
NM_001099274.3(TINF2):c.1290C>G (p.Pro430=)
|
rs201083863
|
0.00024
|
NM_001283009.2(RTEL1):c.3090G>A (p.Ser1030=)
|
rs187238540
|
0.00024
|
NM_001283009.2(RTEL1):c.538+3A>G
|
rs201706459
|
0.00024
|
NM_025099.6(CTC1):c.1530C>T (p.Thr510=)
|
rs376217684
|
0.00024
|
NM_025099.6(CTC1):c.2506T>C (p.Ser836Pro)
|
rs62637612
|
0.00024
|
NM_025099.6(CTC1):c.34-9T>G
|
rs201195157
|
0.00024
|
NM_025099.6(CTC1):c.862G>A (p.Val288Met)
|
rs201553464
|
0.00024
|
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser)
|
rs144756946
|
0.00024
|
NM_001363.5(DKC1):c.915+8C>T
|
rs200156434
|
0.00023
|
NM_001283009.2(RTEL1):c.1595+9C>T
|
rs370145267
|
0.00022
|
NM_001283009.2(RTEL1):c.3129A>G (p.Pro1043=)
|
rs199578945
|
0.00022
|
NM_025099.6(CTC1):c.*1486C>T
|
rs574706247
|
0.00022
|
NM_025099.6(CTC1):c.3463A>G (p.Ile1155Val)
|
rs571554235
|
0.00022
|
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=)
|
rs369209127
|
0.00022
|
NM_025099.6(CTC1):c.3515-10C>T
|
rs200225342
|
0.00022
|
NM_001283009.2(RTEL1):c.2678C>T (p.Thr893Met)
|
rs141717966
|
0.00021
|
NM_025099.6(CTC1):c.*1534G>A
|
rs561385282
|
0.00021
|
NM_025099.6(CTC1):c.1333C>T (p.Arg445Cys)
|
rs201273283
|
0.00021
|
NM_001099274.3(TINF2):c.507+6G>A
|
rs142144996
|
0.00020
|
NM_001283009.2(RTEL1):c.1581C>T (p.Ser527=)
|
rs78258482
|
0.00020
|
NM_001283009.2(RTEL1):c.2352C>T (p.Phe784=)
|
rs140564753
|
0.00020
|
NM_198253.3(TERT):c.2391C>G (p.Ser797=)
|
rs377216965
|
0.00020
|
NM_001283009.2(RTEL1):c.3203G>A (p.Arg1068His)
|
rs137914057
|
0.00019
|
NM_001283009.2(RTEL1):c.3278A>G (p.Asp1093Gly)
|
rs374338519
|
0.00019
|
NM_001283009.2(RTEL1):c.334G>A (p.Ala112Thr)
|
rs151214675
|
0.00019
|
NM_001283009.2(RTEL1):c.3393G>A (p.Thr1131=)
|
rs142965557
|
0.00019
|
NM_025099.6(CTC1):c.2407T>G (p.Ser803Ala)
|
rs199989447
|
0.00019
|
NM_025099.6(CTC1):c.2895C>T (p.Ala965=)
|
rs373530008
|
0.00019
|
NM_025099.6(CTC1):c.3074C>T (p.Ala1025Val)
|
rs183966301
|
0.00019
|
NM_025099.6(CTC1):c.3340C>T (p.Pro1114Ser)
|
rs370564569
|
0.00019
|
NM_025099.6(CTC1):c.3567C>T (p.His1189=)
|
rs374942931
|
0.00019
|
NM_025099.6(CTC1):c.597G>A (p.Thr199=)
|
rs373023392
|
0.00019
|
NM_001283009.2(RTEL1):c.2523C>T (p.Ser841=)
|
rs764719355
|
0.00018
|
NM_025099.6(CTC1):c.1479A>G (p.Gln493=)
|
rs188654013
|
0.00018
|
NM_025099.6(CTC1):c.2345G>C (p.Gly782Ala)
|
rs530949904
|
0.00018
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_198253.3(TERT):c.838G>A (p.Glu280Lys)
|
rs199701877
|
0.00018
|
NM_001283009.2(RTEL1):c.3505T>C (p.Ser1169Pro)
|
rs143248833
|
0.00017
|
NM_025099.6(CTC1):c.-10C>T
|
rs201782976
|
0.00017
|
NM_001143992.2(WRAP53):c.18T>A (p.Thr6=)
|
rs376621917
|
0.00016
|
NM_001283009.2(RTEL1):c.1830C>T (p.Ala610=)
|
rs140738232
|
0.00016
|
NM_001283009.2(RTEL1):c.2612C>T (p.Pro871Leu)
|
rs144002969
|
0.00016
|
NM_001283009.2(RTEL1):c.2921G>A (p.Arg974Gln)
|
rs369716125
|
0.00016
|
NM_025099.6(CTC1):c.*1046T>C
|
rs550911189
|
0.00016
|
NM_025099.6(CTC1):c.*2530G>A
|
rs780560618
|
0.00016
|
NM_025099.6(CTC1):c.3384T>C (p.Leu1128=)
|
rs945189616
|
0.00016
|
NM_001283009.2(RTEL1):c.2899G>C (p.Val967Leu)
|
rs149537474
|
0.00015
|
NM_001283009.2(RTEL1):c.860C>T (p.Thr287Ile)
|
rs561054389
|
0.00015
|
NM_001363.5(DKC1):c.1059G>A (p.Ala353=)
|
rs375274293
|
0.00015
|
NM_001363.5(DKC1):c.1362A>G (p.Glu454=)
|
rs782342369
|
0.00015
|
NM_025099.6(CTC1):c.*1663G>A
|
rs552635622
|
0.00015
|
NM_025099.6(CTC1):c.1760A>G (p.Asn587Ser)
|
rs376302717
|
0.00015
|
NM_001099274.3(TINF2):c.1073_1081dup (p.Tyr360_Met361insAsnCysTyr)
|
rs776727691
|
0.00014
|
NM_001099274.3(TINF2):c.127G>A (p.Ala43Thr)
|
rs35653076
|
0.00014
|
NM_001283009.2(RTEL1):c.1713G>A (p.Glu571=)
|
rs141229183
|
0.00014
|
NM_001283009.2(RTEL1):c.3361C>T (p.Arg1121Cys)
|
rs374441172
|
0.00014
|
NM_025099.6(CTC1):c.*1042T>C
|
rs974655494
|
0.00014
|
NM_025099.6(CTC1):c.3151C>T (p.Arg1051Trp)
|
rs370674203
|
0.00014
|
NM_025099.6(CTC1):c.3246C>T (p.Ala1082=)
|
rs201124470
|
0.00014
|
NM_001099274.3(TINF2):c.371C>T (p.Ala124Val)
|
rs369712095
|
0.00013
|
NM_001099274.3(TINF2):c.520C>T (p.Leu174=)
|
rs374116388
|
0.00013
|
NM_001363.5(DKC1):c.1431G>A (p.Lys477=)
|
rs3752356
|
0.00013
|
NM_001363.5(DKC1):c.399C>T (p.Ile133=)
|
rs140714103
|
0.00013
|
NM_001363.5(DKC1):c.622G>A (p.Asp208Asn)
|
rs374771308
|
0.00013
|
NM_001363.5(DKC1):c.978C>T (p.Gly326=)
|
rs145325102
|
0.00013
|
NM_017838.4(NHP2):c.143A>G (p.Tyr48Cys)
|
rs200150979
|
0.00013
|
NM_025099.6(CTC1):c.*1177C>T
|
rs886053604
|
0.00013
|
NM_025099.6(CTC1):c.*64T>G
|
rs886053609
|
0.00013
|
NM_025099.6(CTC1):c.3083C>T (p.Ser1028Phe)
|
rs779906449
|
0.00013
|
NM_025099.6(CTC1):c.695G>A (p.Arg232Gln)
|
rs201592575
|
0.00013
|
NM_198253.3(TERT):c.2383-15C>T
|
rs574645600
|
0.00013
|
NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe)
|
rs199740488
|
0.00012
|
NM_001283009.2(RTEL1):c.2651C>T (p.Pro884Leu)
|
rs199698251
|
0.00012
|
NM_001283009.2(RTEL1):c.2874C>A (p.Pro958=)
|
rs369953611
|
0.00012
|
NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser)
|
rs150686112
|
0.00012
|
NM_025099.6(CTC1):c.*1630G>A
|
rs77202978
|
0.00012
|
NM_001099274.3(TINF2):c.1003C>T (p.Leu335=)
|
rs200990844
|
0.00011
|
NM_001099274.3(TINF2):c.492A>G (p.Thr164=)
|
rs781353658
|
0.00011
|
NM_001143992.2(WRAP53):c.1514C>T (p.Thr505Met)
|
rs376624508
|
0.00011
|
NM_001283009.2(RTEL1):c.2474T>C (p.Val825Ala)
|
rs778102066
|
0.00011
|
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His)
|
rs373210484
|
0.00011
|
NM_001283009.2(RTEL1):c.3022G>A (p.Val1008Met)
|
rs145335410
|
0.00011
|
NM_001283009.2(RTEL1):c.3239T>C (p.Leu1080Ser)
|
rs770243852
|
0.00011
|
NM_001363.5(DKC1):c.41A>G (p.Lys14Arg)
|
rs376632263
|
0.00011
|
NM_017838.4(NHP2):c.72C>T (p.Tyr24=)
|
rs202221169
|
0.00011
|
NM_025099.6(CTC1):c.*1125G>C
|
rs779298230
|
0.00011
|
NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp)
|
rs771646414
|
0.00011
|
NM_025099.6(CTC1):c.3600T>C (p.Ser1200=)
|
rs761178911
|
0.00011
|
NM_025099.6(CTC1):c.680C>T (p.Ala227Val)
|
rs199473673
|
0.00011
|
NM_198253.3(TERT):c.3186C>T (p.Ala1062=)
|
rs201067706
|
0.00011
|
NM_001099274.3(TINF2):c.1030C>T (p.Pro344Ser)
|
rs200454893
|
0.00010
|
NM_001283009.2(RTEL1):c.2413+4C>T
|
rs761756257
|
0.00010
|
NM_001283009.2(RTEL1):c.250C>T (p.Arg84Trp)
|
rs373874416
|
0.00010
|
NM_001283009.2(RTEL1):c.2721G>A (p.Leu907=)
|
rs763364387
|
0.00010
|
NM_001283009.2(RTEL1):c.3103C>T (p.Pro1035Ser)
|
rs754768798
|
0.00010
|
NM_001283009.2(RTEL1):c.718A>G (p.Ile240Val)
|
rs141578937
|
0.00010
|
NM_001363.5(DKC1):c.600C>T (p.Tyr200=)
|
rs781789313
|
0.00010
|
NM_025099.6(CTC1):c.*1201T>C
|
rs886053603
|
0.00010
|
NM_025099.6(CTC1):c.*1475A>G
|
rs745973862
|
0.00010
|
NM_025099.6(CTC1):c.*1861A>G
|
rs868663416
|
0.00010
|
NM_025099.6(CTC1):c.3317C>A (p.Ser1106Tyr)
|
rs367822614
|
0.00010
|
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg)
|
rs200137992
|
0.00010
|
NM_198253.3(TERT):c.1656C>T (p.Tyr552=)
|
rs143789839
|
0.00010
|
NM_198253.3(TERT):c.1983G>A (p.Leu661=)
|
rs375454175
|
0.00010
|
NM_001099274.3(TINF2):c.1081A>G (p.Met361Val)
|
rs201787600
|
0.00009
|
NM_001283009.2(RTEL1):c.1161C>T (p.Ala387=)
|
rs141241780
|
0.00009
|
NM_001283009.2(RTEL1):c.1395C>T (p.His465=)
|
rs376423914
|
0.00009
|
NM_001283009.2(RTEL1):c.1626G>A (p.Gly542=)
|
rs140629792
|
0.00009
|
NM_001283009.2(RTEL1):c.2508C>T (p.Ala836=)
|
rs147245368
|
0.00009
|
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)
|
rs373740199
|
0.00009
|
NM_001283009.2(RTEL1):c.3137G>A (p.Gly1046Glu)
|
rs772914279
|
0.00009
|
NM_001283009.2(RTEL1):c.3585G>A (p.Ala1195=)
|
rs368887784
|
0.00009
|
NM_017838.4(NHP2):c.394C>T (p.His132Tyr)
|
rs146766601
|
0.00009
|
NM_025099.6(CTC1):c.*2106G>T
|
rs192934640
|
0.00009
|
NM_025099.6(CTC1):c.*2353A>G
|
rs559152657
|
0.00009
|
NM_025099.6(CTC1):c.1748G>A (p.Ser583Asn)
|
rs568980956
|
0.00009
|
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln)
|
rs775779700
|
0.00009
|
NM_025099.6(CTC1):c.2307G>T (p.Trp769Cys)
|
rs201879837
|
0.00009
|
NM_025099.6(CTC1):c.3247G>A (p.Glu1083Lys)
|
rs201885165
|
0.00009
|
NM_025099.6(CTC1):c.50A>G (p.Glu17Gly)
|
rs200054513
|
0.00009
|
NM_198253.3(TERT):c.1974G>A (p.Val658=)
|
rs778496417
|
0.00009
|
NM_198253.3(TERT):c.2001C>T (p.Tyr667=)
|
rs758494245
|
0.00009
|
NM_198253.3(TERT):c.2019C>T (p.Pro673=)
|
rs762941707
|
0.00009
|
NM_198253.3(TERT):c.3363G>A (p.Pro1121=)
|
rs750020682
|
0.00009
|
NM_198253.3(TERT):c.779G>A (p.Gly260Asp)
|
rs148798048
|
0.00009
|
NM_001099274.3(TINF2):c.1302C>T (p.His434=)
|
rs568909774
|
0.00008
|
NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val)
|
rs369249473
|
0.00008
|
NM_001099274.3(TINF2):c.590G>A (p.Gly197Glu)
|
rs540798467
|
0.00008
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_001283009.2(RTEL1):c.1518C>T (p.Ile506=)
|
rs757231662
|
0.00008
|
NM_001283009.2(RTEL1):c.1602C>T (p.Ser534=)
|
rs745339095
|
0.00008
|
NM_001283009.2(RTEL1):c.2232C>T (p.Asp744=)
|
rs146666432
|
0.00008
|
NM_001283009.2(RTEL1):c.3107C>G (p.Thr1036Arg)
|
rs138576158
|
0.00008
|
NM_001283009.2(RTEL1):c.869C>T (p.Ala290Val)
|
rs202157063
|
0.00008
|
NM_001283009.2(RTEL1):c.959-9G>A
|
rs373436285
|
0.00008
|
NM_001363.5(DKC1):c.85-4G>A
|
rs782787521
|
0.00008
|
NM_025099.6(CTC1):c.*474G>A
|
rs139392724
|
0.00008
|
NM_025099.6(CTC1):c.1379G>A (p.Arg460His)
|
rs200619397
|
0.00008
|
NM_025099.6(CTC1):c.1946-6C>T
|
rs369285521
|
0.00008
|
NM_025099.6(CTC1):c.195T>C (p.Tyr65=)
|
rs764616648
|
0.00008
|
NM_025099.6(CTC1):c.2896C>T (p.Arg966Trp)
|
rs200208356
|
0.00008
|
NM_025099.6(CTC1):c.3515-17C>T
|
rs376402639
|
0.00008
|
NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln)
|
rs778830884
|
0.00008
|
NM_025099.6(CTC1):c.484C>T (p.Arg162Cys)
|
rs367666200
|
0.00008
|
NM_025099.6(CTC1):c.616C>G (p.Pro206Ala)
|
rs778922727
|
0.00008
|
NM_025099.6(CTC1):c.878G>C (p.Gly293Ala)
|
rs377324497
|
0.00008
|
NM_198253.3(TERT):c.2139G>A (p.Val713=)
|
rs775722062
|
0.00008
|
NM_001283009.2(RTEL1):c.1310G>C (p.Arg437Pro)
|
rs537151019
|
0.00007
|
NM_001283009.2(RTEL1):c.2436C>T (p.Pro812=)
|
rs370202708
|
0.00007
|
NM_001283009.2(RTEL1):c.3499+6G>A
|
rs201617354
|
0.00007
|
NM_001283009.2(RTEL1):c.3589G>A (p.Gly1197Ser)
|
rs545606632
|
0.00007
|
NM_001283009.2(RTEL1):c.3630C>T (p.His1210=)
|
rs564198378
|
0.00007
|
NM_001283009.2(RTEL1):c.94C>T (p.Leu32=)
|
rs375849124
|
0.00007
|
NM_001283009.2(RTEL1):c.958+3A>G
|
rs200787633
|
0.00007
|
NM_001363.5(DKC1):c.1155+20G>A
|
rs782743841
|
0.00007
|
NM_001363.5(DKC1):c.494G>C (p.Gly165Ala)
|
rs782622660
|
0.00007
|
NM_001363.5(DKC1):c.582C>G (p.Leu194=)
|
rs782546233
|
0.00007
|
NM_025099.6(CTC1):c.*1711A>G
|
rs563822041
|
0.00007
|
NM_025099.6(CTC1):c.*2842G>A
|
rs1035127593
|
0.00007
|
NM_025099.6(CTC1):c.1052G>A (p.Arg351Gln)
|
rs371166242
|
0.00007
|
NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr)
|
rs139078502
|
0.00007
|
NM_025099.6(CTC1):c.2476-7C>T
|
rs189539795
|
0.00007
|
NM_025099.6(CTC1):c.2611G>A (p.Val871Met)
|
rs369255297
|
0.00007
|
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly)
|
rs199473678
|
0.00007
|
NM_025099.6(CTC1):c.3087C>T (p.Cys1029=)
|
rs775991134
|
0.00007
|
NM_025099.6(CTC1):c.3191C>T (p.Thr1064Met)
|
rs1001797761
|
0.00007
|
NM_001099274.3(TINF2):c.1029C>T (p.Asn343=)
|
rs199597631
|
0.00006
|
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg)
|
rs367835995
|
0.00006
|
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter)
|
rs201677741
|
0.00006
|
NM_001143992.2(WRAP53):c.1329C>T (p.Asp443=)
|
rs371846554
|
0.00006
|
NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn)
|
rs201340741
|
0.00006
|
NM_001283009.2(RTEL1):c.12A>C (p.Ile4=)
|
rs779748543
|
0.00006
|
NM_001283009.2(RTEL1):c.195C>T (p.Asp65=)
|
rs752413439
|
0.00006
|
NM_001283009.2(RTEL1):c.2707G>A (p.Val903Met)
|
rs143317975
|
0.00006
|
NM_001283009.2(RTEL1):c.2748C>T (p.Thr916=)
|
rs146662746
|
0.00006
|
NM_001283009.2(RTEL1):c.2903G>C (p.Cys968Ser)
|
rs375503989
|
0.00006
|
NM_001283009.2(RTEL1):c.3110-2A>T
|
rs377461417
|
0.00006
|
NM_001283009.2(RTEL1):c.3222G>A (p.Ala1074=)
|
rs575430966
|
0.00006
|
NM_001283009.2(RTEL1):c.3267C>T (p.Asp1089=)
|
rs370637234
|
0.00006
|
NM_001283009.2(RTEL1):c.3273C>T (p.Asp1091=)
|
rs528125869
|
0.00006
|
NM_001283009.2(RTEL1):c.3357T>C (p.Phe1119=)
|
rs371805350
|
0.00006
|
NM_001283009.2(RTEL1):c.3509G>A (p.Arg1170Gln)
|
rs375593361
|
0.00006
|
NM_001363.5(DKC1):c.1036+8G>A
|
rs782446632
|
0.00006
|
NM_001363.5(DKC1):c.1167G>A (p.Lys389=)
|
rs369066088
|
0.00006
|
NM_001363.5(DKC1):c.97G>A (p.Ala33Thr)
|
rs372511229
|
0.00006
|
NM_017838.4(NHP2):c.230+17C>T
|
rs766892858
|
0.00006
|
NM_017838.4(NHP2):c.289A>G (p.Met97Val)
|
rs372840247
|
0.00006
|
NM_017838.4(NHP2):c.290T>C (p.Met97Thr)
|
rs147530082
|
0.00006
|
NM_017838.4(NHP2):c.328T>A (p.Ser110Thr)
|
rs780696831
|
0.00006
|
NM_025099.6(CTC1):c.*1166C>T
|
rs753309673
|
0.00006
|
NM_025099.6(CTC1):c.1002C>T (p.Leu334=)
|
rs369276308
|
0.00006
|
NM_025099.6(CTC1):c.1264G>A (p.Ala422Thr)
|
rs369078832
|
0.00006
|
NM_025099.6(CTC1):c.1274T>C (p.Leu425Pro)
|
rs371812914
|
0.00006
|
NM_025099.6(CTC1):c.1366C>T (p.Leu456=)
|
rs529158574
|
0.00006
|
NM_025099.6(CTC1):c.1378C>T (p.Arg460Cys)
|
rs561676622
|
0.00006
|
NM_025099.6(CTC1):c.1765C>T (p.Arg589Cys)
|
rs759152295
|
0.00006
|
NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp)
|
rs200222583
|
0.00006
|
NM_025099.6(CTC1):c.2472C>T (p.Pro824=)
|
rs558802130
|
0.00006
|
NM_025099.6(CTC1):c.2510G>C (p.Cys837Ser)
|
rs377390001
|
0.00006
|
NM_025099.6(CTC1):c.257C>T (p.Ser86Leu)
|
rs778742090
|
0.00006
|
NM_025099.6(CTC1):c.3326A>G (p.Asp1109Gly)
|
rs202226502
|
0.00006
|
NM_025099.6(CTC1):c.3337G>A (p.Val1113Met)
|
rs543241073
|
0.00006
|
NM_025099.6(CTC1):c.596C>T (p.Thr199Met)
|
rs747323535
|
0.00006
|
NM_025099.6(CTC1):c.843T>C (p.Tyr281=)
|
rs367935180
|
0.00006
|
NM_025099.6(CTC1):c.884G>A (p.Arg295His)
|
rs763386935
|
0.00006
|
NM_198253.3(TERT):c.1936C>T (p.Arg646Cys)
|
rs147521473
|
0.00006
|
NM_001099274.3(TINF2):c.1253T>C (p.Phe418Ser)
|
rs773286175
|
0.00005
|
NM_001099274.3(TINF2):c.318G>C (p.Lys106Asn)
|
rs765992492
|
0.00005
|
NM_001099274.3(TINF2):c.61C>G (p.Gln21Glu)
|
rs767648367
|
0.00005
|
NM_001283009.2(RTEL1):c.1399C>G (p.Leu467Val)
|
rs369714122
|
0.00005
|
NM_001283009.2(RTEL1):c.1752G>A (p.Ala584=)
|
rs113304555
|
0.00005
|
NM_001283009.2(RTEL1):c.1863G>A (p.Ala621=)
|
rs553627522
|
0.00005
|
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg)
|
rs537754916
|
0.00005
|
NM_001283009.2(RTEL1):c.2834A>G (p.Lys945Arg)
|
rs369064972
|
0.00005
|
NM_001283009.2(RTEL1):c.3109+5C>T
|
rs372267276
|
0.00005
|
NM_001283009.2(RTEL1):c.3178G>A (p.Val1060Met)
|
rs116768542
|
0.00005
|
NM_001283009.2(RTEL1):c.3221C>T (p.Ala1074Val)
|
rs370571374
|
0.00005
|
NM_001283009.2(RTEL1):c.3344-4G>A
|
rs367703929
|
0.00005
|
NM_001283009.2(RTEL1):c.3592G>A (p.Glu1198Lys)
|
rs771457769
|
0.00005
|
NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr)
|
rs746411863
|
0.00005
|
NM_001363.5(DKC1):c.1074C>T (p.Cys358=)
|
rs781915787
|
0.00005
|
NM_001363.5(DKC1):c.1155+8G>A
|
rs781880461
|
0.00005
|
NM_001363.5(DKC1):c.20T>C (p.Ile7Thr)
|
rs782343800
|
0.00005
|
NM_001363.5(DKC1):c.259A>G (p.Ile87Val)
|
rs782202263
|
0.00005
|
NM_001363.5(DKC1):c.267A>C (p.Thr89=)
|
rs782604353
|
0.00005
|
NM_001363.5(DKC1):c.847C>A (p.Arg283=)
|
rs782084631
|
0.00005
|
NM_017838.4(NHP2):c.105G>A (p.Ala35=)
|
rs373176167
|
0.00005
|
NM_017838.4(NHP2):c.417C>T (p.Tyr139=)
|
rs567317314
|
0.00005
|
NM_025099.6(CTC1):c.*2146G>A
|
rs773269538
|
0.00005
|
NM_025099.6(CTC1):c.*2296T>A
|
rs777042904
|
0.00005
|
NM_025099.6(CTC1):c.*3079C>T
|
rs890664978
|
0.00005
|
NM_025099.6(CTC1):c.1051C>T (p.Arg351Trp)
|
rs374781255
|
0.00005
|
NM_025099.6(CTC1):c.1076C>T (p.Ser359Leu)
|
rs561782597
|
0.00005
|
NM_025099.6(CTC1):c.1565G>A (p.Arg522Gln)
|
rs375999182
|
0.00005
|
NM_025099.6(CTC1):c.17C>T (p.Ala6Val)
|
rs371541763
|
0.00005
|
NM_025099.6(CTC1):c.1904T>G (p.Leu635Arg)
|
rs763326051
|
0.00005
|
NM_025099.6(CTC1):c.198-3C>T
|
rs761189766
|
0.00005
|
NM_025099.6(CTC1):c.1981G>A (p.Val661Ile)
|
rs534923467
|
0.00005
|
NM_025099.6(CTC1):c.2800G>A (p.Ala934Thr)
|
rs369721966
|
0.00005
|
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp)
|
rs202138550
|
0.00005
|
NM_025099.6(CTC1):c.3281C>T (p.Ala1094Val)
|
rs536983035
|
0.00005
|
NM_025099.6(CTC1):c.3286G>A (p.Ala1096Thr)
|
rs748072446
|
0.00005
|
NM_025099.6(CTC1):c.3426C>T (p.Leu1142=)
|
rs745512137
|
0.00005
|
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln)
|
rs201788219
|
0.00005
|
NM_025099.6(CTC1):c.562G>A (p.Val188Met)
|
rs769331687
|
0.00005
|
NM_025099.6(CTC1):c.648-9C>T
|
rs779778738
|
0.00005
|
NM_025099.6(CTC1):c.827G>A (p.Arg276Gln)
|
rs761903168
|
0.00005
|
NM_025099.6(CTC1):c.873C>G (p.Ile291Met)
|
rs199900567
|
0.00005
|
NM_025099.6(CTC1):c.887A>G (p.Gln296Arg)
|
rs746829533
|
0.00005
|
NM_198253.3(TERT):c.3302C>T (p.Thr1101Met)
|
rs764602705
|
0.00005
|
NM_001099274.3(TINF2):c.30A>G (p.Ala10=)
|
rs779819186
|
0.00004
|
NM_001099274.3(TINF2):c.315G>A (p.Arg105=)
|
rs773958161
|
0.00004
|
NM_001099274.3(TINF2):c.500C>T (p.Ala167Val)
|
rs562843857
|
0.00004
|
NM_001099274.3(TINF2):c.507+5C>T
|
rs761308889
|
0.00004
|
NM_001099274.3(TINF2):c.690C>G (p.Pro230=)
|
rs764260132
|
0.00004
|
NM_001099274.3(TINF2):c.743C>T (p.Thr248Met)
|
rs552794694
|
0.00004
|
NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln)
|
rs779837822
|
0.00004
|
NM_001099274.3(TINF2):c.819C>T (p.Ala273=)
|
rs376845893
|
0.00004
|
NM_001143992.2(WRAP53):c.1325C>T (p.Thr442Met)
|
rs188668951
|
0.00004
|
NM_001283009.2(RTEL1):c.1004C>G (p.Pro335Arg)
|
rs750272281
|
0.00004
|
NM_001283009.2(RTEL1):c.1012G>A (p.Asp338Asn)
|
rs116495318
|
0.00004
|
NM_001283009.2(RTEL1):c.1178C>T (p.Ala393Val)
|
rs200555432
|
0.00004
|
NM_001283009.2(RTEL1):c.1239A>G (p.Ala413=)
|
rs745951995
|
0.00004
|
NM_001283009.2(RTEL1):c.147G>A (p.Thr49=)
|
rs114124243
|
0.00004
|
NM_001283009.2(RTEL1):c.1594C>T (p.Arg532Trp)
|
rs779050514
|
0.00004
|
NM_001283009.2(RTEL1):c.1596-8G>A
|
rs374702981
|
0.00004
|
NM_001283009.2(RTEL1):c.1729G>A (p.Asp577Asn)
|
rs371161995
|
0.00004
|
NM_001283009.2(RTEL1):c.1800+4G>A
|
rs370973086
|
0.00004
|
NM_001283009.2(RTEL1):c.1848C>T (p.Gly616=)
|
rs141436916
|
0.00004
|
NM_001283009.2(RTEL1):c.2085C>T (p.Ile695=)
|
rs774642602
|
0.00004
|
NM_001283009.2(RTEL1):c.2151T>C (p.Phe717=)
|
rs751146876
|
0.00004
|
NM_001283009.2(RTEL1):c.2191C>T (p.His731Tyr)
|
rs149063501
|
0.00004
|
NM_001283009.2(RTEL1):c.220G>A (p.Glu74Lys)
|
rs140042227
|
0.00004
|
NM_001283009.2(RTEL1):c.2273C>T (p.Ala758Val)
|
rs745535053
|
0.00004
|
NM_001283009.2(RTEL1):c.2279C>T (p.Ala760Val)
|
rs761666401
|
0.00004
|
NM_001283009.2(RTEL1):c.2284C>T (p.Arg762Trp)
|
rs750251447
|
0.00004
|
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg)
|
rs545613984
|
0.00004
|
NM_001283009.2(RTEL1):c.246G>A (p.Pro82=)
|
rs775247678
|
0.00004
|
NM_001283009.2(RTEL1):c.2509G>A (p.Ala837Thr)
|
rs753435220
|
0.00004
|
NM_001283009.2(RTEL1):c.259T>A (p.Ser87Thr)
|
rs543685758
|
0.00004
|
NM_001283009.2(RTEL1):c.2761G>C (p.Asp921His)
|
rs765668627
|
0.00004
|
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln)
|
rs146221660
|
0.00004
|
NM_001283009.2(RTEL1):c.2976G>A (p.Pro992=)
|
rs373347391
|
0.00004
|
NM_001283009.2(RTEL1):c.3075C>T (p.Gly1025=)
|
rs766455566
|
0.00004
|
NM_001283009.2(RTEL1):c.3362G>A (p.Arg1121His)
|
rs765060195
|
0.00004
|
NM_001283009.2(RTEL1):c.3392C>T (p.Thr1131Met)
|
rs372852392
|
0.00004
|
NM_001283009.2(RTEL1):c.3437C>T (p.Pro1146Leu)
|
rs749331637
|
0.00004
|
NM_001283009.2(RTEL1):c.3522C>T (p.Thr1174=)
|
rs200086502
|
0.00004
|
NM_001283009.2(RTEL1):c.3546G>A (p.Ser1182=)
|
rs774018403
|
0.00004
|
NM_001283009.2(RTEL1):c.3584C>T (p.Ala1195Val)
|
rs778286683
|
0.00004
|
NM_001283009.2(RTEL1):c.3876G>A (p.Met1292Ile)
|
rs199760510
|
0.00004
|
NM_001283009.2(RTEL1):c.638G>A (p.Arg213Gln)
|
rs770742969
|
0.00004
|
NM_001283009.2(RTEL1):c.763G>A (p.Val255Met)
|
rs778675789
|
0.00004
|
NM_001283009.2(RTEL1):c.902C>T (p.Ala301Val)
|
rs373849709
|
0.00004
|
NM_001283009.2(RTEL1):c.903G>A (p.Ala301=)
|
rs377191081
|
0.00004
|
NM_001283009.2(RTEL1):c.988G>A (p.Asp330Asn)
|
rs753838163
|
0.00004
|
NM_001363.5(DKC1):c.1339-5C>T
|
rs781901933
|
0.00004
|
NM_001363.5(DKC1):c.1349A>T (p.Glu450Val)
|
rs782631659
|
0.00004
|
NM_001363.5(DKC1):c.263+17G>A
|
rs371006539
|
0.00004
|
NM_001363.5(DKC1):c.415G>A (p.Ala139Thr)
|
rs374799227
|
0.00004
|
NM_001363.5(DKC1):c.55C>T (p.Arg19Trp)
|
rs782010351
|
0.00004
|
NM_001363.5(DKC1):c.84C>T (p.Ala28=)
|
rs142474971
|
0.00004
|
NM_017838.4(NHP2):c.335C>T (p.Thr112Met)
|
rs768262654
|
0.00004
|
NM_017838.4(NHP2):c.441G>T (p.Gln147His)
|
rs757655789
|
0.00004
|
NM_025099.6(CTC1):c.*1495G>A
|
rs886053600
|
0.00004
|
NM_025099.6(CTC1):c.*1964G>A
|
rs1167690919
|
0.00004
|
NM_025099.6(CTC1):c.*2007A>G
|
rs886053591
|
0.00004
|
NM_025099.6(CTC1):c.*218T>G
|
rs886053607
|
0.00004
|
NM_025099.6(CTC1):c.*327C>T
|
rs569217905
|
0.00004
|
NM_025099.6(CTC1):c.1028A>G (p.Lys343Arg)
|
rs746477108
|
0.00004
|
NM_025099.6(CTC1):c.1043G>A (p.Ser348Asn)
|
rs372396041
|
0.00004
|
NM_025099.6(CTC1):c.1107C>T (p.Pro369=)
|
rs576049782
|
0.00004
|
NM_025099.6(CTC1):c.1293T>C (p.Leu431=)
|
rs764709117
|
0.00004
|
NM_025099.6(CTC1):c.1359C>T (p.Tyr453=)
|
rs371189165
|
0.00004
|
NM_025099.6(CTC1):c.139A>G (p.Lys47Glu)
|
rs544760936
|
0.00004
|
NM_025099.6(CTC1):c.1542A>G (p.Leu514=)
|
rs369802087
|
0.00004
|
NM_025099.6(CTC1):c.1682G>A (p.Arg561His)
|
rs373690929
|
0.00004
|
NM_025099.6(CTC1):c.1683dup (p.Lys562Ter)
|
rs1053748363
|
0.00004
|
NM_025099.6(CTC1):c.1727C>T (p.Pro576Leu)
|
rs755218326
|
0.00004
|
NM_025099.6(CTC1):c.1936C>T (p.Arg646Trp)
|
rs780151711
|
0.00004
|
NM_025099.6(CTC1):c.197+13G>A
|
rs377444887
|
0.00004
|
NM_025099.6(CTC1):c.1990G>A (p.Asp664Asn)
|
rs747911941
|
0.00004
|
NM_025099.6(CTC1):c.202G>A (p.Val68Ile)
|
rs1060499949
|
0.00004
|
NM_025099.6(CTC1):c.2061-6C>T
|
rs370503002
|
0.00004
|
NM_025099.6(CTC1):c.2260C>G (p.Pro754Ala)
|
rs370354906
|
0.00004
|
NM_025099.6(CTC1):c.2461G>T (p.Ala821Ser)
|
rs771475755
|
0.00004
|
NM_025099.6(CTC1):c.258G>A (p.Ser86=)
|
rs369789111
|
0.00004
|
NM_025099.6(CTC1):c.2653G>A (p.Asp885Asn)
|
rs370102181
|
0.00004
|
NM_025099.6(CTC1):c.2783G>T (p.Cys928Phe)
|
rs373660155
|
0.00004
|
NM_025099.6(CTC1):c.3176G>T (p.Gly1059Val)
|
rs957741030
|
0.00004
|
NM_025099.6(CTC1):c.3222-4A>G
|
rs562479062
|
0.00004
|
NM_025099.6(CTC1):c.3505G>A (p.Val1169Ile)
|
rs377491661
|
0.00004
|
NM_025099.6(CTC1):c.3514+18G>A
|
rs770137845
|
0.00004
|
NM_025099.6(CTC1):c.547G>T (p.Asp183Tyr)
|
rs751596403
|
0.00004
|
NM_025099.6(CTC1):c.630C>G (p.Ser210=)
|
rs750601480
|
0.00004
|
NM_198253.3(TERT):c.1552G>T (p.Ala518Ser)
|
rs551522837
|
0.00004
|
NM_198253.3(TERT):c.2255A>G (p.His752Arg)
|
rs375699185
|
0.00004
|
NM_198253.3(TERT):c.2469-9C>T
|
rs764029536
|
0.00004
|
NM_198253.3(TERT):c.2793C>T (p.Cys931=)
|
rs764925909
|
0.00004
|
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)
|
rs373400596
|
0.00004
|
NM_001099274.3(TINF2):c.1221+1G>C
|
rs374008344
|
0.00003
|
NM_001099274.3(TINF2):c.1221+3G>C
|
rs762455414
|
0.00003
|
NM_001099274.3(TINF2):c.1297G>C (p.Gly433Arg)
|
rs763867083
|
0.00003
|
NM_001099274.3(TINF2):c.1299C>G (p.Gly433=)
|
rs755970077
|
0.00003
|
NM_001099274.3(TINF2):c.159C>T (p.His53=)
|
rs370875792
|
0.00003
|
NM_001099274.3(TINF2):c.210C>T (p.Ile70=)
|
rs749135301
|
0.00003
|
NM_001099274.3(TINF2):c.278T>C (p.Ile93Thr)
|
rs762140055
|
0.00003
|
NM_001099274.3(TINF2):c.28G>T (p.Ala10Ser)
|
rs746625511
|
0.00003
|
NM_001099274.3(TINF2):c.504G>A (p.Gln168=)
|
rs764829839
|
0.00003
|
NM_001099274.3(TINF2):c.51G>C (p.Ala17=)
|
rs757222975
|
0.00003
|
NM_001099274.3(TINF2):c.640C>T (p.Pro214Ser)
|
rs372610524
|
0.00003
|
NM_001099274.3(TINF2):c.912G>A (p.Glu304=)
|
rs776136324
|
0.00003
|
NM_001283009.2(RTEL1):c.103-13G>A
|
rs183862736
|
0.00003
|
NM_001283009.2(RTEL1):c.1294C>T (p.Arg432Trp)
|
rs748434559
|
0.00003
|
NM_001283009.2(RTEL1):c.1452G>A (p.Pro484=)
|
rs201307924
|
0.00003
|
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys)
|
rs369419645
|
0.00003
|
NM_001283009.2(RTEL1):c.1871G>A (p.Arg624Gln)
|
rs753779060
|
0.00003
|
NM_001283009.2(RTEL1):c.1963C>T (p.Arg655Trp)
|
rs764349649
|
0.00003
|
NM_001283009.2(RTEL1):c.2261G>A (p.Arg754Gln)
|
rs141423196
|
0.00003
|
NM_001283009.2(RTEL1):c.2306G>A (p.Arg769His)
|
rs369014080
|
0.00003
|
NM_001283009.2(RTEL1):c.2547C>T (p.Gly849=)
|
rs371353556
|
0.00003
|
NM_001283009.2(RTEL1):c.2561A>C (p.His854Pro)
|
rs747542418
|
0.00003
|
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)
|
rs398123018
|
0.00003
|
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter)
|
rs398123017
|
0.00003
|
NM_001283009.2(RTEL1):c.3020C>G (p.Thr1007Ser)
|
rs776712596
|
0.00003
|
NM_001283009.2(RTEL1):c.3063C>A (p.His1021Gln)
|
rs761907604
|
0.00003
|
NM_001283009.2(RTEL1):c.3487G>T (p.Ala1163Ser)
|
rs550764571
|
0.00003
|
NM_001283009.2(RTEL1):c.3521C>T (p.Thr1174Ile)
|
rs201992738
|
0.00003
|
NM_001283009.2(RTEL1):c.3704G>A (p.Gly1235Asp)
|
rs942254441
|
0.00003
|
NM_001283009.2(RTEL1):c.396-26C>T
|
rs80224512
|
0.00003
|
NM_001283009.2(RTEL1):c.396-27T>C
|
rs774523585
|
0.00003
|
NM_001283009.2(RTEL1):c.490C>T (p.Arg164Cys)
|
rs752046445
|
0.00003
|
NM_001283009.2(RTEL1):c.600C>A (p.Ser200Arg)
|
rs771785679
|
0.00003
|
NM_001283009.2(RTEL1):c.771G>C (p.Lys257Asn)
|
rs1036504358
|
0.00003
|
NM_001283009.2(RTEL1):c.785C>T (p.Ser262Leu)
|
rs772044888
|
0.00003
|
NM_001363.5(DKC1):c.1305G>A (p.Pro435=)
|
rs189466923
|
0.00003
|
NM_001363.5(DKC1):c.1471G>A (p.Asp491Asn)
|
rs782598355
|
0.00003
|
NM_001363.5(DKC1):c.1503G>A (p.Lys501=)
|
rs782072048
|
0.00003
|
NM_001363.5(DKC1):c.172-13C>T
|
rs782236324
|
0.00003
|
NM_001363.5(DKC1):c.357G>A (p.Gly119=)
|
rs1161452912
|
0.00003
|
NM_001363.5(DKC1):c.487A>G (p.Ile163Val)
|
rs782159247
|
0.00003
|
NM_001363.5(DKC1):c.85-5C>T
|
rs782381308
|
0.00003
|
NM_001363.5(DKC1):c.93A>G (p.Gln31=)
|
rs782094431
|
0.00003
|
NM_001363.5(DKC1):c.993G>A (p.Gln331=)
|
rs1407582382
|
0.00003
|
NM_017838.4(NHP2):c.109C>T (p.Pro37Ser)
|
rs201390429
|
0.00003
|
NM_017838.4(NHP2):c.231-20_231-19del
|
rs1491337170
|
0.00003
|
NM_017838.4(NHP2):c.336+12G>A
|
rs202050768
|
0.00003
|
NM_017838.4(NHP2):c.388_395dup (p.His132fs)
|
rs755460344
|
0.00003
|
NM_025099.6(CTC1):c.*1286A>G
|
rs886053601
|
0.00003
|
NM_025099.6(CTC1):c.*1438C>G
|
rs141383858
|
0.00003
|
NM_025099.6(CTC1):c.*1852G>A
|
rs559541027
|
0.00003
|
NM_025099.6(CTC1):c.*445A>T
|
rs977398110
|
0.00003
|
NM_025099.6(CTC1):c.1045C>T (p.Leu349Phe)
|
rs745499039
|
0.00003
|
NM_025099.6(CTC1):c.1078-14C>T
|
rs778409864
|
0.00003
|
NM_025099.6(CTC1):c.1108G>A (p.Ala370Thr)
|
rs771759195
|
0.00003
|
NM_025099.6(CTC1):c.1177C>T (p.Arg393Trp)
|
rs767962215
|
0.00003
|
NM_025099.6(CTC1):c.1178G>A (p.Arg393Gln)
|
rs755414520
|
0.00003
|
NM_025099.6(CTC1):c.1240G>T (p.Gly414Trp)
|
rs375293707
|
0.00003
|
NM_025099.6(CTC1):c.1265C>T (p.Ala422Val)
|
rs532962550
|
0.00003
|
NM_025099.6(CTC1):c.1276C>T (p.Arg426Cys)
|
rs367898339
|
0.00003
|
NM_025099.6(CTC1):c.1284C>T (p.Ala428=)
|
rs751503167
|
0.00003
|
NM_025099.6(CTC1):c.1344C>T (p.Tyr448=)
|
rs758414171
|
0.00003
|
NM_025099.6(CTC1):c.1585C>A (p.Leu529Ile)
|
rs201560353
|
0.00003
|
NM_025099.6(CTC1):c.1625G>A (p.Arg542Gln)
|
rs776684484
|
0.00003
|
NM_025099.6(CTC1):c.19C>T (p.Gln7Ter)
|
rs374877315
|
0.00003
|
NM_025099.6(CTC1):c.2012C>G (p.Ser671Cys)
|
rs764799661
|
0.00003
|
NM_025099.6(CTC1):c.2036G>A (p.Gly679Asp)
|
rs201006130
|
0.00003
|
NM_025099.6(CTC1):c.2049G>A (p.Lys683=)
|
rs1224287906
|
0.00003
|
NM_025099.6(CTC1):c.2060+8C>T
|
rs774720707
|
0.00003
|
NM_025099.6(CTC1):c.2191C>T (p.Arg731Trp)
|
rs781720954
|
0.00003
|
NM_025099.6(CTC1):c.2244C>T (p.Val748=)
|
rs758516017
|
0.00003
|
NM_025099.6(CTC1):c.2266G>A (p.Val756Met)
|
rs200779057
|
0.00003
|
NM_025099.6(CTC1):c.2352C>T (p.Pro784=)
|
rs372436060
|
0.00003
|
NM_025099.6(CTC1):c.2370C>T (p.Asp790=)
|
rs765241138
|
0.00003
|
NM_025099.6(CTC1):c.2385+19G>A
|
rs766195246
|
0.00003
|
NM_025099.6(CTC1):c.2453G>A (p.Arg818Gln)
|
rs772328631
|
0.00003
|
NM_025099.6(CTC1):c.2497G>C (p.Asp833His)
|
rs754510180
|
0.00003
|
NM_025099.6(CTC1):c.24C>T (p.Val8=)
|
rs749818659
|
0.00003
|
NM_025099.6(CTC1):c.2575A>T (p.Thr859Ser)
|
rs780809830
|
0.00003
|
NM_025099.6(CTC1):c.2670-7C>T
|
rs750034989
|
0.00003
|
NM_025099.6(CTC1):c.268A>G (p.Ser90Gly)
|
rs371308970
|
0.00003
|
NM_025099.6(CTC1):c.2721A>C (p.Leu907=)
|
rs776568637
|
0.00003
|
NM_025099.6(CTC1):c.2770G>A (p.Ala924Thr)
|
rs376358881
|
0.00003
|
NM_025099.6(CTC1):c.2799C>A (p.Val933=)
|
rs756487472
|
0.00003
|
NM_025099.6(CTC1):c.2942A>G (p.Asn981Ser)
|
rs375371933
|
0.00003
|
NM_025099.6(CTC1):c.2960G>A (p.Arg987Gln)
|
rs769617113
|
0.00003
|
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs)
|
rs761922947
|
0.00003
|
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=)
|
rs760547081
|
0.00003
|
NM_025099.6(CTC1):c.647+16A>G
|
rs761287304
|
0.00003
|
NM_025099.6(CTC1):c.6G>A (p.Ala2=)
|
rs777656768
|
0.00003
|
NM_198253.3(TERT):c.193C>G (p.Pro65Ala)
|
rs544215765
|
0.00003
|
NM_198253.3(TERT):c.2145C>T (p.Gly715=)
|
rs769467251
|
0.00003
|
NM_198253.3(TERT):c.3033-13G>A
|
rs746630679
|
0.00003
|
NM_198253.3(TERT):c.3116C>T (p.Thr1039Met)
|
rs763381198
|
0.00003
|
NM_198253.3(TERT):c.3267C>T (p.Tyr1089=)
|
rs759883263
|
0.00003
|
NM_001099274.3(TINF2):c.1060G>A (p.Glu354Lys)
|
rs992428548
|
0.00002
|
NM_001099274.3(TINF2):c.1062-3C>T
|
rs1176026210
|
0.00002
|
NM_001099274.3(TINF2):c.1084G>C (p.Asp362His)
|
rs371044766
|
0.00002
|
NM_001099274.3(TINF2):c.1130-10C>T
|
rs762697610
|
0.00002
|
NM_001099274.3(TINF2):c.1222-3C>A
|
rs760553298
|
0.00002
|
NM_001099274.3(TINF2):c.1312C>G (p.Pro438Ala)
|
rs1359891417
|
0.00002
|
NM_001099274.3(TINF2):c.302A>G (p.Lys101Arg)
|
rs1375036989
|
0.00002
|
NM_001099274.3(TINF2):c.399+12T>C
|
rs1261166783
|
0.00002
|
NM_001099274.3(TINF2):c.411A>G (p.Gln137=)
|
rs1180442127
|
0.00002
|
NM_001099274.3(TINF2):c.507+14A>G
|
rs888526948
|
0.00002
|
NM_001099274.3(TINF2):c.861G>C (p.Leu287=)
|
rs770236773
|
0.00002
|
NM_001099274.3(TINF2):c.879C>T (p.Leu293=)
|
rs1475173024
|
0.00002
|
NM_001099274.3(TINF2):c.960A>C (p.Thr320=)
|
rs1002974518
|
0.00002
|
NM_001283009.2(RTEL1):c.1228G>T (p.Gly410Cys)
|
rs866955014
|
0.00002
|
NM_001283009.2(RTEL1):c.1267-6C>T
|
rs779075624
|
0.00002
|
NM_001283009.2(RTEL1):c.1393C>T (p.His465Tyr)
|
rs142928306
|
0.00002
|
NM_001283009.2(RTEL1):c.1477C>G (p.Gln493Glu)
|
rs372871657
|
0.00002
|
NM_001283009.2(RTEL1):c.1659C>A (p.Pro553=)
|
rs758544821
|
0.00002
|
NM_001283009.2(RTEL1):c.1723-13C>T
|
rs751640004
|
0.00002
|
NM_001283009.2(RTEL1):c.1728C>T (p.Arg576=)
|
rs754225573
|
0.00002
|
NM_001283009.2(RTEL1):c.2142-7C>G
|
rs879582201
|
0.00002
|
NM_001283009.2(RTEL1):c.2512C>G (p.Leu838Val)
|
rs996529824
|
0.00002
|
NM_001283009.2(RTEL1):c.2530C>T (p.Arg844Trp)
|
rs368297230
|
0.00002
|
NM_001283009.2(RTEL1):c.2531G>A (p.Arg844Gln)
|
rs758245234
|
0.00002
|
NM_001283009.2(RTEL1):c.2638C>G (p.Leu880Val)
|
rs376204071
|
0.00002
|
NM_001283009.2(RTEL1):c.2652G>A (p.Pro884=)
|
rs201784607
|
0.00002
|
NM_001283009.2(RTEL1):c.3089C>T (p.Ser1030Leu)
|
rs756579704
|
0.00002
|
NM_001283009.2(RTEL1):c.3102C>T (p.Pro1034=)
|
rs201356718
|
0.00002
|
NM_001283009.2(RTEL1):c.3300C>T (p.Ala1100=)
|
rs530713870
|
0.00002
|
NM_001283009.2(RTEL1):c.3438G>A (p.Pro1146=)
|
rs770920450
|
0.00002
|
NM_001283009.2(RTEL1):c.350C>T (p.Ser117Leu)
|
rs372278974
|
0.00002
|
NM_001283009.2(RTEL1):c.765+4A>G
|
rs948594061
|
0.00002
|
NM_001283009.2(RTEL1):c.8A>C (p.Lys3Thr)
|
rs779282812
|
0.00002
|
NM_001283009.2(RTEL1):c.940G>A (p.Asp314Asn)
|
rs758615955
|
0.00002
|
NM_001363.5(DKC1):c.1206G>A (p.Gly402=)
|
rs199803984
|
0.00002
|
NM_001363.5(DKC1):c.1335G>A (p.Ala445=)
|
rs782765291
|
0.00002
|
NM_001363.5(DKC1):c.1338+13C>T
|
rs781802524
|
0.00002
|
NM_001363.5(DKC1):c.1350G>C (p.Glu450Asp)
|
rs1557265675
|
0.00002
|
NM_001363.5(DKC1):c.1451A>C (p.Glu484Ala)
|
rs781923825
|
0.00002
|
NM_001363.5(DKC1):c.1476+20G>A
|
rs782675825
|
0.00002
|
NM_001363.5(DKC1):c.64T>G (p.Leu22Val)
|
rs781849751
|
0.00002
|
NM_001363.5(DKC1):c.975C>T (p.Asp325=)
|
rs374103494
|
0.00002
|
NM_017838.4(NHP2):c.112C>T (p.Leu38=)
|
rs925125777
|
0.00002
|
NM_017838.4(NHP2):c.138G>C (p.Lys46Asn)
|
rs761328868
|
0.00002
|
NM_017838.4(NHP2):c.160+8G>A
|
rs777793268
|
0.00002
|
NM_017838.4(NHP2):c.195A>G (p.Lys65=)
|
rs543057099
|
0.00002
|
NM_017838.4(NHP2):c.235A>T (p.Met79Leu)
|
rs377700562
|
0.00002
|
NM_017838.4(NHP2):c.289_290del (p.Met97fs)
|
rs762821341
|
0.00002
|
NM_017838.4(NHP2):c.70T>A (p.Tyr24Asn)
|
rs757358075
|
0.00002
|
NM_025099.6(CTC1):c.*1553C>T
|
rs986375644
|
0.00002
|
NM_025099.6(CTC1):c.*2685C>T
|
rs886053588
|
0.00002
|
NM_025099.6(CTC1):c.*642A>G
|
rs1282456436
|
0.00002
|
NM_025099.6(CTC1):c.1007T>C (p.Met336Thr)
|
rs376721027
|
0.00002
|
NM_025099.6(CTC1):c.1147C>T (p.Leu383Phe)
|
rs199532891
|
0.00002
|
NM_025099.6(CTC1):c.1166G>A (p.Arg389His)
|
rs758605320
|
0.00002
|
NM_025099.6(CTC1):c.1343A>G (p.Tyr448Cys)
|
rs779866795
|
0.00002
|
NM_025099.6(CTC1):c.1360del (p.Glu454fs)
|
rs748852501
|
0.00002
|
NM_025099.6(CTC1):c.1398C>G (p.Leu466=)
|
rs777305874
|
0.00002
|
NM_025099.6(CTC1):c.1525C>T (p.Pro509Ser)
|
rs369917627
|
0.00002
|
NM_025099.6(CTC1):c.1558C>G (p.Pro520Ala)
|
rs371714831
|
0.00002
|
NM_025099.6(CTC1):c.1624C>T (p.Arg542Trp)
|
rs901245332
|
0.00002
|
NM_025099.6(CTC1):c.1945+8G>A
|
rs746083383
|
0.00002
|
NM_025099.6(CTC1):c.196A>G (p.Ser66Gly)
|
rs1366348022
|
0.00002
|
NM_025099.6(CTC1):c.198-10C>T
|
rs764516700
|
0.00002
|
NM_025099.6(CTC1):c.2353G>A (p.Glu785Lys)
|
rs201561504
|
0.00002
|
NM_025099.6(CTC1):c.2371G>A (p.Asp791Asn)
|
rs754090012
|
0.00002
|
NM_025099.6(CTC1):c.2441G>A (p.Gly814Glu)
|
rs375914513
|
0.00002
|
NM_025099.6(CTC1):c.2476-6G>A
|
rs768967446
|
0.00002
|
NM_025099.6(CTC1):c.2557A>G (p.Thr853Ala)
|
rs758218109
|
0.00002
|
NM_025099.6(CTC1):c.2683T>C (p.Leu895=)
|
rs764648488
|
0.00002
|
NM_025099.6(CTC1):c.2758+1G>T
|
rs200609323
|
0.00002
|
NM_025099.6(CTC1):c.2785G>A (p.Val929Met)
|
rs778339506
|
0.00002
|
NM_025099.6(CTC1):c.3007A>G (p.Ile1003Val)
|
rs758498343
|
0.00002
|
NM_025099.6(CTC1):c.3169C>T (p.Arg1057Cys)
|
rs376349076
|
0.00002
|
NM_025099.6(CTC1):c.3170G>A (p.Arg1057His)
|
rs776956576
|
0.00002
|
NM_025099.6(CTC1):c.3173T>G (p.Leu1058Arg)
|
rs146536910
|
0.00002
|
NM_025099.6(CTC1):c.3196A>T (p.Thr1066Ser)
|
rs373875495
|
0.00002
|
NM_025099.6(CTC1):c.3222G>C (p.Arg1074Ser)
|
rs1393187047
|
0.00002
|
NM_025099.6(CTC1):c.3494C>T (p.Pro1165Leu)
|
rs766537691
|
0.00002
|
NM_025099.6(CTC1):c.3495G>A (p.Pro1165=)
|
rs556097361
|
0.00002
|
NM_025099.6(CTC1):c.3515-9C>T
|
rs1225599531
|
0.00002
|
NM_025099.6(CTC1):c.3532C>T (p.Arg1178Ter)
|
rs200919310
|
0.00002
|
NM_025099.6(CTC1):c.363G>A (p.Ser121=)
|
rs770555372
|
0.00002
|
NM_025099.6(CTC1):c.390C>T (p.Asn130=)
|
rs559790131
|
0.00002
|
NM_025099.6(CTC1):c.448G>A (p.Asp150Asn)
|
rs374418436
|
0.00002
|
NM_025099.6(CTC1):c.500C>T (p.Pro167Leu)
|
rs1390966539
|
0.00002
|
NM_025099.6(CTC1):c.591C>T (p.Pro197=)
|
rs538242855
|
0.00002
|
NM_025099.6(CTC1):c.647+4A>G
|
rs751360780
|
0.00002
|
NM_025099.6(CTC1):c.738C>G (p.Ile246Met)
|
rs1463129527
|
0.00002
|
NM_025099.6(CTC1):c.793-17G>A
|
rs751885616
|
0.00002
|
NM_025099.6(CTC1):c.874C>T (p.Arg292Cys)
|
rs1013688033
|
0.00002
|
NM_025099.6(CTC1):c.8C>G (p.Ala3Gly)
|
rs923853643
|
0.00002
|
NM_025099.6(CTC1):c.980T>C (p.Leu327Ser)
|
rs902038280
|
0.00002
|
NM_198253.3(TERT):c.1422C>T (p.Pro474=)
|
rs139133620
|
0.00002
|
NM_198253.3(TERT):c.2228G>A (p.Arg743Gln)
|
rs768168259
|
0.00002
|
NM_198253.3(TERT):c.672C>T (p.Arg224=)
|
rs996032219
|
0.00002
|
NM_001099274.3(TINF2):c.1032A>G (p.Pro344=)
|
rs1295609085
|
0.00001
|
NM_001099274.3(TINF2):c.1076G>A (p.Cys359Tyr)
|
rs368350757
|
0.00001
|
NM_001099274.3(TINF2):c.1139C>T (p.Pro380Leu)
|
rs201422008
|
0.00001
|
NM_001099274.3(TINF2):c.1155C>T (p.Ser385=)
|
rs948013496
|
0.00001
|
NM_001099274.3(TINF2):c.1156G>A (p.Val386Ile)
|
rs749534744
|
0.00001
|
NM_001099274.3(TINF2):c.1222-5T>G
|
rs763885098
|
0.00001
|
NM_001099274.3(TINF2):c.1222G>C (p.Glu408Gln)
|
rs1594548909
|
0.00001
|
NM_001099274.3(TINF2):c.128C>A (p.Ala43Asp)
|
rs771709910
|
0.00001
|
NM_001099274.3(TINF2):c.1291C>A (p.Pro431Thr)
|
rs756840009
|
0.00001
|
NM_001099274.3(TINF2):c.129T>C (p.Ala43=)
|
rs1488023738
|
0.00001
|
NM_001099274.3(TINF2):c.1305T>C (p.Gly435=)
|
rs750447210
|
0.00001
|
NM_001099274.3(TINF2):c.1309A>G (p.Ile437Val)
|
rs777060713
|
0.00001
|
NM_001099274.3(TINF2):c.1313C>T (p.Pro438Leu)
|
rs1184256281
|
0.00001
|
NM_001099274.3(TINF2):c.1332T>C (p.Cys444=)
|
rs1414894689
|
0.00001
|
NM_001099274.3(TINF2):c.1337A>T (p.Asp446Val)
|
rs532096263
|
0.00001
|
NM_001099274.3(TINF2):c.141C>T (p.Gly47=)
|
rs1351749746
|
0.00001
|
NM_001099274.3(TINF2):c.144_145insTT (p.Val49fs)
|
rs1334044756
|
0.00001
|
NM_001099274.3(TINF2):c.166C>G (p.Arg56Gly)
|
rs753814680
|
0.00001
|
NM_001099274.3(TINF2):c.167G>A (p.Arg56His)
|
rs777925529
|
0.00001
|
NM_001099274.3(TINF2):c.198G>A (p.Val66=)
|
rs1374640214
|
0.00001
|
NM_001099274.3(TINF2):c.251A>G (p.Asn84Ser)
|
rs1043122818
|
0.00001
|
NM_001099274.3(TINF2):c.253C>G (p.His85Asp)
|
rs758462532
|
0.00001
|
NM_001099274.3(TINF2):c.364T>A (p.Ser122Thr)
|
rs776604725
|
0.00001
|
NM_001099274.3(TINF2):c.388T>C (p.Ser130Pro)
|
rs959871602
|
0.00001
|
NM_001099274.3(TINF2):c.389C>T (p.Ser130Leu)
|
rs746984199
|
0.00001
|
NM_001099274.3(TINF2):c.400-4G>A
|
rs1566368389
|
0.00001
|
NM_001099274.3(TINF2):c.400G>A (p.Glu134Lys)
|
rs1429817346
|
0.00001
|
NM_001099274.3(TINF2):c.45C>T (p.Ala15=)
|
rs750285418
|
0.00001
|
NM_001099274.3(TINF2):c.462C>T (p.Tyr154=)
|
rs778034325
|
0.00001
|
NM_001099274.3(TINF2):c.503A>G (p.Gln168Arg)
|
rs749849244
|
0.00001
|
NM_001099274.3(TINF2):c.508-19C>T
|
rs750306834
|
0.00001
|
NM_001099274.3(TINF2):c.598C>T (p.Leu200Phe)
|
rs772502368
|
0.00001
|
NM_001099274.3(TINF2):c.621C>G (p.Asp207Glu)
|
rs775914928
|
0.00001
|
NM_001099274.3(TINF2):c.622T>C (p.Ser208Pro)
|
rs377436580
|
0.00001
|
NM_001099274.3(TINF2):c.631C>G (p.Leu211Val)
|
rs746287594
|
0.00001
|
NM_001099274.3(TINF2):c.679C>T (p.Leu227Phe)
|
rs754706260
|
0.00001
|
NM_001099274.3(TINF2):c.684C>T (p.His228=)
|
rs370555134
|
0.00001
|
NM_001099274.3(TINF2):c.69G>A (p.Val23=)
|
rs1280950659
|
0.00001
|
NM_001099274.3(TINF2):c.716A>C (p.His239Pro)
|
rs2040558735
|
0.00001
|
NM_001099274.3(TINF2):c.731C>T (p.Pro244Leu)
|
rs775202856
|
0.00001
|
NM_001099274.3(TINF2):c.73G>C (p.Gly25Arg)
|
rs766671951
|
0.00001
|
NM_001099274.3(TINF2):c.759A>G (p.Leu253=)
|
rs1456646494
|
0.00001
|
NM_001099274.3(TINF2):c.765C>A (p.Gly255=)
|
rs1171794268
|
0.00001
|
NM_001099274.3(TINF2):c.783C>A (p.Ala261=)
|
rs1468911267
|
0.00001
|
NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter)
|
rs200320654
|
0.00001
|
NM_001099274.3(TINF2):c.797G>A (p.Arg266Gln)
|
rs200025766
|
0.00001
|
NM_001099274.3(TINF2):c.802G>C (p.Val268Leu)
|
rs369926102
|
0.00001
|
NM_001099274.3(TINF2):c.922G>T (p.Glu308Ter)
|
rs1232383398
|
0.00001
|
NM_001099274.3(TINF2):c.930G>A (p.Ala310=)
|
rs778877023
|
0.00001
|
NM_001099274.3(TINF2):c.932T>C (p.Ile311Thr)
|
rs757221051
|
0.00001
|
NM_001099274.3(TINF2):c.967G>C (p.Ala323Pro)
|
rs755072937
|
0.00001
|
NM_001099274.3(TINF2):c.984dup (p.Lys329Ter)
|
rs903141690
|
0.00001
|
NM_001099274.3(TINF2):c.995G>A (p.Cys332Tyr)
|
rs750745512
|
0.00001
|
NM_001143992.2(WRAP53):c.1241A>G (p.Asn414Ser)
|
rs543868835
|
0.00001
|
NM_001143992.2(WRAP53):c.636A>G (p.Ala212=)
|
rs2074083397
|
0.00001
|
NM_001143992.2(WRAP53):c.752A>G (p.Glu251Gly)
|
rs1255617679
|
0.00001
|
NM_001283009.2(RTEL1):c.1157C>T (p.Thr386Met)
|
rs371141081
|
0.00001
|
NM_001283009.2(RTEL1):c.1216G>A (p.Glu406Lys)
|
rs1417269541
|
0.00001
|
NM_001283009.2(RTEL1):c.1282G>A (p.Asp428Asn)
|
rs758640195
|
0.00001
|
NM_001283009.2(RTEL1):c.1344G>C (p.Lys448Asn)
|
rs755129499
|
0.00001
|
NM_001283009.2(RTEL1):c.1346G>A (p.Arg449Gln)
|
rs779873020
|
0.00001
|
NM_001283009.2(RTEL1):c.1381G>A (p.Gly461Ser)
|
rs764665173
|
0.00001
|
NM_001283009.2(RTEL1):c.1417C>T (p.Arg473Cys)
|
rs1409999749
|
0.00001
|
NM_001283009.2(RTEL1):c.1460C>T (p.Ser487Phe)
|
rs764219586
|
0.00001
|
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)
|
rs370343781
|
0.00001
|
NM_001283009.2(RTEL1):c.1482-10C>G
|
rs754623770
|
0.00001
|
NM_001283009.2(RTEL1):c.150G>C (p.Leu50=)
|
rs1178822970
|
0.00001
|
NM_001283009.2(RTEL1):c.1691C>T (p.Pro564Leu)
|
rs1189892333
|
0.00001
|
NM_001283009.2(RTEL1):c.1751C>T (p.Ala584Val)
|
rs779562019
|
0.00001
|
NM_001283009.2(RTEL1):c.1794C>T (p.Phe598=)
|
rs1177652366
|
0.00001
|
NM_001283009.2(RTEL1):c.179G>A (p.Arg60Gln)
|
rs763415620
|
0.00001
|
NM_001283009.2(RTEL1):c.1839G>A (p.Gly613=)
|
rs757075776
|
0.00001
|
NM_001283009.2(RTEL1):c.1869C>T (p.Cys623=)
|
rs1405032353
|
0.00001
|
NM_001283009.2(RTEL1):c.1877A>G (p.Lys626Arg)
|
rs1018679403
|
0.00001
|
NM_001283009.2(RTEL1):c.1907C>T (p.Thr636Met)
|
rs200847054
|
0.00001
|
NM_001283009.2(RTEL1):c.1936C>T (p.Leu646Phe)
|
rs1323023332
|
0.00001
|
NM_001283009.2(RTEL1):c.1952G>T (p.Arg651Leu)
|
rs773159241
|
0.00001
|
NM_001283009.2(RTEL1):c.2105G>A (p.Arg702His)
|
rs1035926074
|
0.00001
|
NM_001283009.2(RTEL1):c.2155G>A (p.Asp719Asn)
|
rs781231332
|
0.00001
|
NM_001283009.2(RTEL1):c.2158G>A (p.Ala720Thr)
|
rs755928414
|
0.00001
|
NM_001283009.2(RTEL1):c.217G>T (p.Ala73Ser)
|
rs774311444
|
0.00001
|
NM_001283009.2(RTEL1):c.2336C>T (p.Ser779Leu)
|
rs761805038
|
0.00001
|
NM_001283009.2(RTEL1):c.2409C>G (p.Ser803=)
|
rs764351692
|
0.00001
|
NM_001283009.2(RTEL1):c.2438A>C (p.Glu813Ala)
|
rs756711633
|
0.00001
|
NM_001283009.2(RTEL1):c.2483G>A (p.Arg828Gln)
|
rs774640608
|
0.00001
|
NM_001283009.2(RTEL1):c.2507C>G (p.Ala836Gly)
|
rs761063091
|
0.00001
|
NM_001283009.2(RTEL1):c.2542C>A (p.Pro848Thr)
|
rs1295440820
|
0.00001
|
NM_001283009.2(RTEL1):c.2568C>G (p.Cys856Trp)
|
rs1465417616
|
0.00001
|
NM_001283009.2(RTEL1):c.2731A>C (p.Asn911His)
|
rs754727644
|
0.00001
|
NM_001283009.2(RTEL1):c.2736T>G (p.Phe912Leu)
|
rs755652402
|
0.00001
|
NM_001283009.2(RTEL1):c.2776G>A (p.Asp926Asn)
|
rs369357121
|
0.00001
|
NM_001283009.2(RTEL1):c.2795C>T (p.Ala932Val)
|
rs1239433355
|
0.00001
|
NM_001283009.2(RTEL1):c.2842C>G (p.Leu948Val)
|
rs750311914
|
0.00001
|
NM_001283009.2(RTEL1):c.2979C>G (p.Val993=)
|
rs116365288
|
0.00001
|
NM_001283009.2(RTEL1):c.3012C>G (p.Pro1004=)
|
rs1331174859
|
0.00001
|
NM_001283009.2(RTEL1):c.3037G>A (p.Ala1013Thr)
|
rs142568980
|
0.00001
|
NM_001283009.2(RTEL1):c.3038C>T (p.Ala1013Val)
|
rs569586118
|
0.00001
|
NM_001283009.2(RTEL1):c.3076A>C (p.Arg1026=)
|
rs148099608
|
0.00001
|
NM_001283009.2(RTEL1):c.3087G>A (p.Leu1029=)
|
rs753147923
|
0.00001
|
NM_001283009.2(RTEL1):c.3138G>A (p.Gly1046=)
|
rs762571471
|
0.00001
|
NM_001283009.2(RTEL1):c.3148C>T (p.Pro1050Ser)
|
rs368303890
|
0.00001
|
NM_001283009.2(RTEL1):c.3220G>A (p.Ala1074Thr)
|
rs780364760
|
0.00001
|
NM_001283009.2(RTEL1):c.3254C>T (p.Ala1085Val)
|
rs771545243
|
0.00001
|
NM_001283009.2(RTEL1):c.3268G>A (p.Asp1090Asn)
|
rs761447586
|
0.00001
|
NM_001283009.2(RTEL1):c.3325G>A (p.Asp1109Asn)
|
rs764303844
|
0.00001
|
NM_001283009.2(RTEL1):c.3329T>A (p.Phe1110Tyr)
|
rs148621466
|
0.00001
|
NM_001283009.2(RTEL1):c.3344-6C>G
|
rs1455821579
|
0.00001
|
NM_001283009.2(RTEL1):c.336C>T (p.Ala112=)
|
rs778831023
|
0.00001
|
NM_001283009.2(RTEL1):c.3380G>A (p.Arg1127His)
|
rs771768208
|
0.00001
|
NM_001283009.2(RTEL1):c.3419A>T (p.Tyr1140Phe)
|
rs200622914
|
0.00001
|
NM_001283009.2(RTEL1):c.3467C>T (p.Pro1156Leu)
|
rs746759990
|
0.00001
|
NM_001283009.2(RTEL1):c.3523G>A (p.Gly1175Arg)
|
rs769538947
|
0.00001
|
NM_001283009.2(RTEL1):c.3530C>T (p.Thr1177Ile)
|
rs755098827
|
0.00001
|
NM_001283009.2(RTEL1):c.3552C>T (p.Phe1184=)
|
rs760713860
|
0.00001
|
NM_001283009.2(RTEL1):c.3823-3C>T
|
rs1242643276
|
0.00001
|
NM_001283009.2(RTEL1):c.395G>A (p.Arg132Gln)
|
rs762587175
|
0.00001
|
NM_001283009.2(RTEL1):c.396-79C>T
|
rs776396450
|
0.00001
|
NM_001283009.2(RTEL1):c.454A>G (p.Lys152Glu)
|
rs1234907654
|
0.00001
|
NM_001283009.2(RTEL1):c.477+7T>C
|
rs141915461
|
0.00001
|
NM_001283009.2(RTEL1):c.509G>A (p.Arg170His)
|
rs750794827
|
0.00001
|
NM_001283009.2(RTEL1):c.533T>C (p.Val178Ala)
|
rs199685200
|
0.00001
|
NM_001283009.2(RTEL1):c.539-6C>A
|
rs778544732
|
0.00001
|
NM_001283009.2(RTEL1):c.637C>T (p.Arg213Trp)
|
rs560281693
|
0.00001
|
NM_001283009.2(RTEL1):c.703C>T (p.Arg235Cys)
|
rs866782181
|
0.00001
|
NM_001283009.2(RTEL1):c.773T>C (p.Met258Thr)
|
rs1555901763
|
0.00001
|
NM_001363.5(DKC1):c.1006A>G (p.Ile336Val)
|
rs781943265
|
0.00001
|
NM_001363.5(DKC1):c.1155+19C>G
|
rs782728035
|
0.00001
|
NM_001363.5(DKC1):c.1156-7C>T
|
rs1397887971
|
0.00001
|
NM_001363.5(DKC1):c.1210C>G (p.Pro404Ala)
|
rs1347625639
|
0.00001
|
NM_001363.5(DKC1):c.1281G>A (p.Val427=)
|
rs781964348
|
0.00001
|
NM_001363.5(DKC1):c.1318G>A (p.Glu440Lys)
|
rs782193188
|
0.00001
|
NM_001363.5(DKC1):c.1334C>T (p.Ala445Val)
|
rs782117503
|
0.00001
|
NM_001363.5(DKC1):c.1353T>A (p.Ser451Arg)
|
rs370788135
|
0.00001
|
NM_001363.5(DKC1):c.138G>A (p.Lys46=)
|
rs369777662
|
0.00001
|
NM_001363.5(DKC1):c.1455C>T (p.Ser485=)
|
rs782136109
|
0.00001
|
NM_001363.5(DKC1):c.1457G>A (p.Gly486Glu)
|
rs1557265697
|
0.00001
|
NM_001363.5(DKC1):c.1476+13A>G
|
rs781810616
|
0.00001
|
NM_001363.5(DKC1):c.1481G>A (p.Ser494Asn)
|
rs1557265768
|
0.00001
|
NM_001363.5(DKC1):c.1500G>A (p.Lys500=)
|
rs782551669
|
0.00001
|
NM_001363.5(DKC1):c.1509G>A (p.Lys503=)
|
rs782703327
|
0.00001
|
NM_001363.5(DKC1):c.1515A>C (p.Lys505Asn)
|
rs1370393255
|
0.00001
|
NM_001363.5(DKC1):c.1533G>C (p.Leu511Phe)
|
rs782491403
|
0.00001
|
NM_001363.5(DKC1):c.262A>C (p.Arg88=)
|
rs782317228
|
0.00001
|
NM_001363.5(DKC1):c.263+16A>G
|
rs782490890
|
0.00001
|
NM_001363.5(DKC1):c.264-8C>A
|
rs1557264149
|
0.00001
|
NM_001363.5(DKC1):c.36A>G (p.Lys12=)
|
rs781936419
|
0.00001
|
NM_001363.5(DKC1):c.39T>C (p.His13=)
|
rs782044075
|
0.00001
|
NM_001363.5(DKC1):c.449-10C>G
|
rs1167594740
|
0.00001
|
NM_001363.5(DKC1):c.468T>A (p.Ile156=)
|
rs782504051
|
0.00001
|
NM_001363.5(DKC1):c.519A>G (p.Leu173=)
|
rs1466942555
|
0.00001
|
NM_001363.5(DKC1):c.537C>G (p.Ala179=)
|
rs782697778
|
0.00001
|
NM_001363.5(DKC1):c.538T>C (p.Leu180=)
|
rs1557264297
|
0.00001
|
NM_001363.5(DKC1):c.640+3G>A
|
rs1557264306
|
0.00001
|
NM_001363.5(DKC1):c.912T>C (p.Ser304=)
|
rs782525899
|
0.00001
|
NM_001363.5(DKC1):c.915+9C>T
|
rs1557264657
|
0.00001
|
NM_001363.5(DKC1):c.916-6C>G
|
rs782345716
|
0.00001
|
NM_001363.5(DKC1):c.96C>T (p.His32=)
|
rs1557264045
|
0.00001
|
NM_001363.5(DKC1):c.976G>A (p.Gly326Ser)
|
rs140273992
|
0.00001
|
NM_002582.4(PARN):c.918+1G>T
|
rs756132866
|
0.00001
|
NM_017838.4(NHP2):c.160+9G>A
|
rs756638436
|
0.00001
|
NM_017838.4(NHP2):c.161-2A>T
|
rs766032992
|
0.00001
|
NM_017838.4(NHP2):c.182G>A (p.Arg61Gln)
|
rs769920343
|
0.00001
|
NM_017838.4(NHP2):c.215A>G (p.Asn72Ser)
|
rs1756325870
|
0.00001
|
NM_017838.4(NHP2):c.230+19C>G
|
rs1244247196
|
0.00001
|
NM_017838.4(NHP2):c.236T>C (p.Met79Thr)
|
rs1426285845
|
0.00001
|
NM_017838.4(NHP2):c.25G>A (p.Asp9Asn)
|
rs769331750
|
0.00001
|
NM_017838.4(NHP2):c.292T>G (p.Cys98Gly)
|
rs201129701
|
0.00001
|
NM_017838.4(NHP2):c.336G>A (p.Thr112=)
|
rs746472214
|
0.00001
|
NM_017838.4(NHP2):c.434A>T (p.Glu145Val)
|
rs143501297
|
0.00001
|
NM_017838.4(NHP2):c.439C>A (p.Gln147Lys)
|
rs779452625
|
0.00001
|
NM_017838.4(NHP2):c.449C>A (p.Pro150His)
|
rs1401974529
|
0.00001
|
NM_017838.4(NHP2):c.67A>G (p.Thr23Ala)
|
rs1196159721
|
0.00001
|
NM_025099.6(CTC1):c.*1061C>T
|
rs1240025210
|
0.00001
|
NM_025099.6(CTC1):c.*1204T>C
|
rs886053602
|
0.00001
|
NM_025099.6(CTC1):c.*1565A>G
|
rs886053598
|
0.00001
|
NM_025099.6(CTC1):c.*1578T>A
|
rs535373058
|
0.00001
|
NM_025099.6(CTC1):c.*1939G>A
|
rs886053593
|
0.00001
|
NM_025099.6(CTC1):c.*1994A>G
|
rs897034375
|
0.00001
|
NM_025099.6(CTC1):c.*2337G>A
|
rs1311396995
|
0.00001
|
NM_025099.6(CTC1):c.*286G>A
|
rs886053606
|
0.00001
|
NM_025099.6(CTC1):c.*305G>A
|
rs1161700028
|
0.00001
|
NM_025099.6(CTC1):c.*384G>A
|
rs912438390
|
0.00001
|
NM_025099.6(CTC1):c.*509C>T
|
rs758527781
|
0.00001
|
NM_025099.6(CTC1):c.*759A>G
|
rs1986820804
|
0.00001
|
NM_025099.6(CTC1):c.100C>T (p.Pro34Ser)
|
rs374857685
|
0.00001
|
NM_025099.6(CTC1):c.1032G>A (p.Lys344=)
|
rs376394434
|
0.00001
|
NM_025099.6(CTC1):c.1047T>C (p.Leu349=)
|
rs1161961298
|
0.00001
|
NM_025099.6(CTC1):c.105T>C (p.Asn35=)
|
rs775601506
|
0.00001
|
NM_025099.6(CTC1):c.1068A>G (p.Leu356=)
|
rs756221416
|
0.00001
|
NM_025099.6(CTC1):c.1077+6C>T
|
rs199696637
|
0.00001
|
NM_025099.6(CTC1):c.1078-13G>A
|
rs200325111
|
0.00001
|
NM_025099.6(CTC1):c.1092C>T (p.Gly364=)
|
rs761668228
|
0.00001
|
NM_025099.6(CTC1):c.1094T>C (p.Val365Ala)
|
rs763967881
|
0.00001
|
NM_025099.6(CTC1):c.1117T>C (p.Tyr373His)
|
rs1200884099
|
0.00001
|
NM_025099.6(CTC1):c.1155C>T (p.Tyr385=)
|
rs1170351542
|
0.00001
|
NM_025099.6(CTC1):c.1165C>T (p.Arg389Cys)
|
rs780333162
|
0.00001
|
NM_025099.6(CTC1):c.1184T>C (p.Met395Thr)
|
rs1417486388
|
0.00001
|
NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter)
|
rs764019241
|
0.00001
|
NM_025099.6(CTC1):c.1187G>A (p.Arg396Gln)
|
rs1478316787
|
0.00001
|
NM_025099.6(CTC1):c.1199G>A (p.Cys400Tyr)
|
rs1483913680
|
0.00001
|
NM_025099.6(CTC1):c.1206+7G>C
|
rs949969553
|
0.00001
|
NM_025099.6(CTC1):c.1207-7C>A
|
rs746123381
|
0.00001
|
NM_025099.6(CTC1):c.1219C>A (p.His407Asn)
|
rs1286168861
|
0.00001
|
NM_025099.6(CTC1):c.1242G>A (p.Gly414=)
|
rs778096377
|
0.00001
|
NM_025099.6(CTC1):c.1277G>A (p.Arg426His)
|
rs1215600600
|
0.00001
|
NM_025099.6(CTC1):c.1279G>A (p.Gly427Ser)
|
rs749511585
|
0.00001
|
NM_025099.6(CTC1):c.1282G>A (p.Ala428Thr)
|
rs1382263305
|
0.00001
|
NM_025099.6(CTC1):c.1285G>A (p.Val429Ile)
|
rs191350236
|
0.00001
|
NM_025099.6(CTC1):c.1297A>G (p.Ser433Gly)
|
rs1391872586
|
0.00001
|
NM_025099.6(CTC1):c.12C>G (p.Gly4=)
|
rs758287945
|
0.00001
|
NM_025099.6(CTC1):c.1306C>T (p.Arg436Cys)
|
rs764414504
|
0.00001
|
NM_025099.6(CTC1):c.1350C>T (p.Ala450=)
|
rs763760200
|
0.00001
|
NM_025099.6(CTC1):c.1360G>A (p.Glu454Lys)
|
rs774972007
|
0.00001
|
NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly)
|
rs747887601
|
0.00001
|
NM_025099.6(CTC1):c.1467C>T (p.His489=)
|
rs755429023
|
0.00001
|
NM_025099.6(CTC1):c.1500C>T (p.Pro500=)
|
rs761750183
|
0.00001
|
NM_025099.6(CTC1):c.150G>A (p.Trp50Ter)
|
rs202213253
|
0.00001
|
NM_025099.6(CTC1):c.1515A>G (p.Gln505=)
|
rs759341353
|
0.00001
|
NM_025099.6(CTC1):c.1528A>G (p.Thr510Ala)
|
rs578120516
|
0.00001
|
NM_025099.6(CTC1):c.1547C>T (p.Pro516Leu)
|
rs747574053
|
0.00001
|
NM_025099.6(CTC1):c.1548G>A (p.Pro516=)
|
rs781000475
|
0.00001
|
NM_025099.6(CTC1):c.1613A>G (p.Gln538Arg)
|
rs1371252082
|
0.00001
|
NM_025099.6(CTC1):c.1617+8G>A
|
rs200232133
|
0.00001
|
NM_025099.6(CTC1):c.1618-14T>C
|
rs767597943
|
0.00001
|
NM_025099.6(CTC1):c.1620C>T (p.Tyr540=)
|
rs765073204
|
0.00001
|
NM_025099.6(CTC1):c.1635T>C (p.Thr545=)
|
rs768300804
|
0.00001
|
NM_025099.6(CTC1):c.1646T>C (p.Phe549Ser)
|
rs1019443155
|
0.00001
|
NM_025099.6(CTC1):c.1650C>T (p.Pro550=)
|
rs368449753
|
0.00001
|
NM_025099.6(CTC1):c.1673A>G (p.Glu558Gly)
|
rs371121503
|
0.00001
|
NM_025099.6(CTC1):c.1697C>G (p.Ser566Cys)
|
rs1351692819
|
0.00001
|
NM_025099.6(CTC1):c.1710G>A (p.Lys570=)
|
rs376757390
|
0.00001
|
NM_025099.6(CTC1):c.1743G>A (p.Leu581=)
|
rs1256128659
|
0.00001
|
NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter)
|
rs952398755
|
0.00001
|
NM_025099.6(CTC1):c.1756C>G (p.Leu586Val)
|
rs760274760
|
0.00001
|
NM_025099.6(CTC1):c.1759A>C (p.Asn587His)
|
rs774920348
|
0.00001
|
NM_025099.6(CTC1):c.1794G>A (p.Leu598=)
|
rs1171819624
|
0.00001
|
NM_025099.6(CTC1):c.1801G>A (p.Ala601Thr)
|
rs963962577
|
0.00001
|
NM_025099.6(CTC1):c.1818+1G>A
|
rs773716148
|
0.00001
|
NM_025099.6(CTC1):c.1819-14T>G
|
rs753627056
|
0.00001
|
NM_025099.6(CTC1):c.183G>A (p.Leu61=)
|
rs1273538880
|
0.00001
|
NM_025099.6(CTC1):c.1870C>T (p.Arg624Trp)
|
rs759039504
|
0.00001
|
NM_025099.6(CTC1):c.1871G>A (p.Arg624Gln)
|
rs377423237
|
0.00001
|
NM_025099.6(CTC1):c.1899G>C (p.Leu633=)
|
rs983492190
|
0.00001
|
NM_025099.6(CTC1):c.1909A>G (p.Lys637Glu)
|
rs773628396
|
0.00001
|
NM_025099.6(CTC1):c.1937G>A (p.Arg646Gln)
|
rs1243670945
|
0.00001
|
NM_025099.6(CTC1):c.1974G>T (p.Gln658His)
|
rs779228652
|
0.00001
|
NM_025099.6(CTC1):c.1980C>T (p.Ile660=)
|
rs929139383
|
0.00001
|
NM_025099.6(CTC1):c.1993G>A (p.Val665Met)
|
rs751450242
|
0.00001
|
NM_025099.6(CTC1):c.2008C>T (p.Pro670Ser)
|
rs750104621
|
0.00001
|
NM_025099.6(CTC1):c.204C>T (p.Val68=)
|
rs767705861
|
0.00001
|
NM_025099.6(CTC1):c.2061-7C>T
|
rs766368157
|
0.00001
|
NM_025099.6(CTC1):c.2089G>A (p.Ala697Thr)
|
rs778524852
|
0.00001
|
NM_025099.6(CTC1):c.2121T>G (p.Leu707=)
|
rs899017902
|
0.00001
|
NM_025099.6(CTC1):c.2128G>A (p.Ala710Thr)
|
rs1567604032
|
0.00001
|
NM_025099.6(CTC1):c.2141C>T (p.Thr714Ile)
|
rs547897675
|
0.00001
|
NM_025099.6(CTC1):c.21G>C (p.Gln7His)
|
rs370153216
|
0.00001
|
NM_025099.6(CTC1):c.221A>G (p.Lys74Arg)
|
rs774606496
|
0.00001
|
NM_025099.6(CTC1):c.2230C>T (p.Arg744Cys)
|
rs752134243
|
0.00001
|
NM_025099.6(CTC1):c.2249C>A (p.Pro750Gln)
|
rs1417430299
|
0.00001
|
NM_025099.6(CTC1):c.2250A>G (p.Pro750=)
|
rs200036724
|
0.00001
|
NM_025099.6(CTC1):c.2277C>T (p.Pro759=)
|
rs1264286773
|
0.00001
|
NM_025099.6(CTC1):c.2291A>G (p.Tyr764Cys)
|
rs376729433
|
0.00001
|
NM_025099.6(CTC1):c.2312G>A (p.Gly771Glu)
|
rs1287605629
|
0.00001
|
NM_025099.6(CTC1):c.2329G>C (p.Glu777Gln)
|
rs753665719
|
0.00001
|
NM_025099.6(CTC1):c.2333G>A (p.Gly778Asp)
|
rs1427706121
|
0.00001
|
NM_025099.6(CTC1):c.233G>A (p.Arg78His)
|
rs369627256
|
0.00001
|
NM_025099.6(CTC1):c.2356C>A (p.Pro786Thr)
|
rs1026203083
|
0.00001
|
NM_025099.6(CTC1):c.2376T>C (p.Asn792=)
|
rs1206581935
|
0.00001
|
NM_025099.6(CTC1):c.2385+18G>A
|
rs1449666905
|
0.00001
|
NM_025099.6(CTC1):c.2385+2T>C
|
rs1597378045
|
0.00001
|
NM_025099.6(CTC1):c.2386-10A>G
|
rs746382653
|
0.00001
|
NM_025099.6(CTC1):c.2386-1G>A
|
rs199861310
|
0.00001
|
NM_025099.6(CTC1):c.2416C>T (p.Arg806Cys)
|
rs758151645
|
0.00001
|
NM_025099.6(CTC1):c.2417G>A (p.Arg806His)
|
rs750387015
|
0.00001
|
NM_025099.6(CTC1):c.2421G>T (p.Trp807Cys)
|
rs765221206
|
0.00001
|
NM_025099.6(CTC1):c.2437C>T (p.Pro813Ser)
|
rs776324067
|
0.00001
|
NM_025099.6(CTC1):c.2438C>T (p.Pro813Leu)
|
rs764138772
|
0.00001
|
NM_025099.6(CTC1):c.2439G>A (p.Pro813=)
|
rs200759730
|
0.00001
|
NM_025099.6(CTC1):c.2476-15C>G
|
rs748214993
|
0.00001
|
NM_025099.6(CTC1):c.2476-20G>A
|
rs374177499
|
0.00001
|
NM_025099.6(CTC1):c.2477C>A (p.Thr826Lys)
|
rs757061571
|
0.00001
|
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp)
|
rs373905859
|
0.00001
|
NM_025099.6(CTC1):c.2564A>G (p.Gln855Arg)
|
rs1226186528
|
0.00001
|
NM_025099.6(CTC1):c.2576C>T (p.Thr859Ile)
|
rs754425018
|
0.00001
|
NM_025099.6(CTC1):c.2581G>T (p.Glu861Ter)
|
rs1987206904
|
0.00001
|
NM_025099.6(CTC1):c.25C>T (p.Pro9Ser)
|
rs1034774367
|
0.00001
|
NM_025099.6(CTC1):c.2652C>T (p.Thr884=)
|
rs764276520
|
0.00001
|
NM_025099.6(CTC1):c.2686G>T (p.Val896Leu)
|
rs761241839
|
0.00001
|
NM_025099.6(CTC1):c.2697C>T (p.Ser899=)
|
rs551850837
|
0.00001
|
NM_025099.6(CTC1):c.2698G>A (p.Ala900Thr)
|
rs371670247
|
0.00001
|
NM_025099.6(CTC1):c.26C>G (p.Pro9Arg)
|
rs377386669
|
0.00001
|
NM_025099.6(CTC1):c.2712A>G (p.Ser904=)
|
rs1597376076
|
0.00001
|
NM_025099.6(CTC1):c.2729C>A (p.Pro910His)
|
rs532454635
|
0.00001
|
NM_025099.6(CTC1):c.2730C>T (p.Pro910=)
|
rs1302556489
|
0.00001
|
NM_025099.6(CTC1):c.2739G>A (p.Ala913=)
|
rs745541560
|
0.00001
|
NM_025099.6(CTC1):c.2759-10C>A
|
rs766460177
|
0.00001
|
NM_025099.6(CTC1):c.2759-18C>T
|
rs751836178
|
0.00001
|
NM_025099.6(CTC1):c.275A>G (p.Tyr92Cys)
|
rs753289258
|
0.00001
|
NM_025099.6(CTC1):c.2765C>T (p.Thr922Met)
|
rs760623153
|
0.00001
|
NM_025099.6(CTC1):c.2766G>A (p.Thr922=)
|
rs775342727
|
0.00001
|
NM_025099.6(CTC1):c.277C>T (p.Gln93Ter)
|
rs767991627
|
0.00001
|
NM_025099.6(CTC1):c.286G>T (p.Ala96Ser)
|
rs751570124
|
0.00001
|
NM_025099.6(CTC1):c.2897G>A (p.Arg966Gln)
|
rs759485791
|
0.00001
|
NM_025099.6(CTC1):c.28T>A (p.Ser10Thr)
|
rs781595383
|
0.00001
|
NM_025099.6(CTC1):c.2934-16C>T
|
rs759449159
|
0.00001
|
NM_025099.6(CTC1):c.2972A>G (p.Tyr991Cys)
|
rs1471047572
|
0.00001
|
NM_025099.6(CTC1):c.2993C>T (p.Pro998Leu)
|
rs368344044
|
0.00001
|
NM_025099.6(CTC1):c.2996C>A (p.Pro999His)
|
rs780572571
|
0.00001
|
NM_025099.6(CTC1):c.2996C>T (p.Pro999Leu)
|
rs780572571
|
0.00001
|
NM_025099.6(CTC1):c.3003C>T (p.Thr1001=)
|
rs1228344704
|
0.00001
|
NM_025099.6(CTC1):c.306T>C (p.Asn102=)
|
rs1469406841
|
0.00001
|
NM_025099.6(CTC1):c.30C>T (p.Ser10=)
|
rs200258559
|
0.00001
|
NM_025099.6(CTC1):c.3113A>G (p.Gln1038Arg)
|
rs1486092046
|
0.00001
|
NM_025099.6(CTC1):c.3156+13A>C
|
rs554186531
|
0.00001
|
NM_025099.6(CTC1):c.3156+18C>T
|
rs1987003651
|
0.00001
|
NM_025099.6(CTC1):c.3157-3C>T
|
rs1010558106
|
0.00001
|
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala)
|
rs777357385
|
0.00001
|
NM_025099.6(CTC1):c.3221G>A (p.Arg1074Lys)
|
rs751960515
|
0.00001
|
NM_025099.6(CTC1):c.3269A>G (p.Asn1090Ser)
|
rs368562418
|
0.00001
|
NM_025099.6(CTC1):c.3273C>A (p.His1091Gln)
|
rs564631876
|
0.00001
|
NM_025099.6(CTC1):c.3293G>A (p.Gly1098Glu)
|
rs1986954991
|
0.00001
|
NM_025099.6(CTC1):c.3305G>A (p.Arg1102Lys)
|
rs372789589
|
0.00001
|
NM_025099.6(CTC1):c.3323T>C (p.Leu1108Pro)
|
rs1445322884
|
0.00001
|
NM_025099.6(CTC1):c.3330C>T (p.Phe1110=)
|
rs779335414
|
0.00001
|
NM_025099.6(CTC1):c.3369G>T (p.Gly1123=)
|
rs759771248
|
0.00001
|
NM_025099.6(CTC1):c.3400G>T (p.Val1134Phe)
|
rs1446511863
|
0.00001
|
NM_025099.6(CTC1):c.3403G>A (p.Asp1135Asn)
|
rs755212243
|
0.00001
|
NM_025099.6(CTC1):c.3406G>A (p.Glu1136Lys)
|
rs761553012
|
0.00001
|
NM_025099.6(CTC1):c.3420G>A (p.Met1140Ile)
|
rs554183453
|
0.00001
|
NM_025099.6(CTC1):c.3458G>A (p.Arg1153His)
|
rs748674791
|
0.00001
|
NM_025099.6(CTC1):c.3514+14C>T
|
rs551437595
|
0.00001
|
NM_025099.6(CTC1):c.3514+3A>G
|
rs759039342
|
0.00001
|
NM_025099.6(CTC1):c.3523C>T (p.Arg1175Trp)
|
rs747504166
|
0.00001
|
NM_025099.6(CTC1):c.3538C>T (p.Gln1180Ter)
|
rs562356966
|
0.00001
|
NM_025099.6(CTC1):c.3564T>C (p.Thr1188=)
|
rs750119408
|
0.00001
|
NM_025099.6(CTC1):c.3620C>T (p.Ser1207Phe)
|
rs892408695
|
0.00001
|
NM_025099.6(CTC1):c.367G>T (p.Asp123Tyr)
|
rs777260624
|
0.00001
|
NM_025099.6(CTC1):c.37C>G (p.Gln13Glu)
|
rs767073205
|
0.00001
|
NM_025099.6(CTC1):c.421G>A (p.Val141Ile)
|
rs532695142
|
0.00001
|
NM_025099.6(CTC1):c.435+12G>A
|
rs1246653256
|
0.00001
|
NM_025099.6(CTC1):c.440del (p.Ile147fs)
|
rs1196342305
|
0.00001
|
NM_025099.6(CTC1):c.444C>A (p.Asp148Glu)
|
rs542910040
|
0.00001
|
NM_025099.6(CTC1):c.485G>A (p.Arg162His)
|
rs199966003
|
0.00001
|
NM_025099.6(CTC1):c.505G>A (p.Ala169Thr)
|
rs757366100
|
0.00001
|
NM_025099.6(CTC1):c.534C>T (p.His178=)
|
rs1251648065
|
0.00001
|
NM_025099.6(CTC1):c.553C>G (p.Pro185Ala)
|
rs766180217
|
0.00001
|
NM_025099.6(CTC1):c.592G>A (p.Val198Ile)
|
rs989763856
|
0.00001
|
NM_025099.6(CTC1):c.595A>C (p.Thr199Pro)
|
rs1221916551
|
0.00001
|
NM_025099.6(CTC1):c.598C>T (p.Pro200Ser)
|
rs772395506
|
0.00001
|
NM_025099.6(CTC1):c.599C>T (p.Pro200Leu)
|
rs1456198284
|
0.00001
|
NM_025099.6(CTC1):c.5C>A (p.Ala2Glu)
|
rs749391693
|
0.00001
|
NM_025099.6(CTC1):c.647+12C>G
|
rs750369449
|
0.00001
|
NM_025099.6(CTC1):c.670C>T (p.Arg224Ter)
|
rs1169567839
|
0.00001
|
NM_025099.6(CTC1):c.740T>C (p.Leu247Pro)
|
rs774742711
|
0.00001
|
NM_025099.6(CTC1):c.744T>G (p.Ser248=)
|
rs1219363352
|
0.00001
|
NM_025099.6(CTC1):c.770C>T (p.Thr257Ile)
|
rs1007776903
|
0.00001
|
NM_025099.6(CTC1):c.775G>A (p.Val259Met)
|
rs387907080
|
0.00001
|
NM_025099.6(CTC1):c.780C>T (p.Ser260=)
|
rs769988270
|
0.00001
|
NM_025099.6(CTC1):c.786C>T (p.Ile262=)
|
rs781453163
|
0.00001
|
NM_025099.6(CTC1):c.793-13C>G
|
rs957555496
|
0.00001
|
NM_025099.6(CTC1):c.79C>G (p.Leu27Val)
|
rs369069450
|
0.00001
|
NM_025099.6(CTC1):c.817A>G (p.Arg273Gly)
|
rs370483878
|
0.00001
|
NM_025099.6(CTC1):c.855A>C (p.Glu285Asp)
|
rs1987719230
|
0.00001
|
NM_025099.6(CTC1):c.859C>T (p.Arg287Ter)
|
rs397514660
|
0.00001
|
NM_025099.6(CTC1):c.883C>T (p.Arg295Cys)
|
rs373549661
|
0.00001
|
NM_025099.6(CTC1):c.888G>T (p.Gln296His)
|
rs199553763
|
0.00001
|
NM_025099.6(CTC1):c.917G>A (p.Arg306His)
|
rs567779457
|
0.00001
|
NM_025099.6(CTC1):c.918T>C (p.Arg306=)
|
rs770766250
|
0.00001
|
NM_025099.6(CTC1):c.949G>C (p.Glu317Gln)
|
rs1480736168
|
0.00001
|
NM_025099.6(CTC1):c.992C>G (p.Pro331Arg)
|
rs765673141
|
0.00001
|
NM_025099.6(CTC1):c.995A>G (p.Lys332Arg)
|
rs937598790
|
0.00001
|
NM_025099.6(CTC1):c.99G>A (p.Glu33=)
|
rs201091226
|
0.00001
|
NM_198253.3(TERT):c.1043G>A (p.Ser348Asn)
|
rs1279397908
|
0.00001
|
NM_198253.3(TERT):c.1657G>A (p.Val553Ile)
|
rs749051614
|
0.00001
|
NM_198253.3(TERT):c.1796G>A (p.Arg599Gln)
|
rs372511089
|
0.00001
|
NM_198253.3(TERT):c.1890G>T (p.Leu630=)
|
rs1749926290
|
0.00001
|
NM_198253.3(TERT):c.1958G>A (p.Arg653His)
|
rs890242322
|
0.00001
|
NM_198253.3(TERT):c.2250C>T (p.Ala750=)
|
rs941567959
|
0.00001
|
NM_198253.3(TERT):c.2355G>A (p.Pro785=)
|
rs545260840
|
0.00001
|
NM_198253.3(TERT):c.2455C>T (p.Arg819Cys)
|
rs746621306
|
0.00001
|
NM_198253.3(TERT):c.3018G>C (p.Leu1006=)
|
rs941352340
|
0.00001
|
NM_198253.3(TERT):c.3157+3A>T
|
rs369807900
|
0.00001
|
NM_198253.3(TERT):c.456G>C (p.Leu152=)
|
rs757121533
|
0.00001
|
NM_198253.3(TERT):c.702G>C (p.Leu234Phe)
|
rs754359147
|
0.00001
|
NR_001566.1(TERC):n.193G>A
|
rs753227339
|
0.00001
|
NC_000005.10:g.(?_177600191)_(178153837_?)dup
|
|
|
NC_000005.10:g.(?_178149693)_(178153837_?)del
|
|
|
NC_000005.10:g.(?_178149693)_(178153837_?)dup
|
|
|
NC_000005.10:g.(?_178149707)_(178153823_?)del
|
|
|
NC_000005.9:g.(?_177419710)_(177578014_?)dup
|
|
|
NC_000014.8:g.(?_24707479)_(24711538_?)dup
|
|
|
NC_000014.8:g.(?_24711327)_(24731558_?)dup
|
|
|
NC_000017.10:g.(?_6589506)_(8151374_?)dup
|
|
|
NC_000017.10:g.(?_8131498)_(8151354_?)del
|
|
|
NC_000017.10:g.(?_8131498)_(8285628_?)dup
|
|
|
NC_000017.10:g.(?_8146283)_(8146486_?)del
|
|
|
NC_000017.11:g.(?_7669603)_(8382316_?)del
|
|
|
NC_000017.11:g.(?_8228170)_(8382320_?)dup
|
|
|
NC_000023.10:g.(?_152014869)_(154563736_?)del
|
|
|
NC_000023.10:g.(?_153991099)_(154005162_?)dup
|
|
|
NC_000023.10:g.(?_153991100)_(153993815_?)dup
|
|
|
NC_000023.10:g.(?_153991100)_(154005142_?)dup
|
|
|
NM_001071.4(TYMS):c.259G>A (p.Glu87Lys)
|
rs2144258402
|
|
NM_001071.4(TYMS):c.343C>T (p.Arg115Ter)
|
rs2046518776
|
|
NM_001071.4(TYMS):c.480A>T (p.Gln160His)
|
rs894600614
|
|
NM_001071.4(TYMS):c.486_487del (p.Arg163fs)
|
rs2144335544
|
|
NM_001071.4(TYMS):c.534_535insTG (p.Met179Ter)
|
rs2144335824
|
|
NM_001071.4(TYMS):c.556+1G>A
|
rs2144335968
|
|
NM_001071.4(TYMS):c.811C>T (p.Arg271Ter)
|
rs1703168604
|
|
NM_001099274.3(TINF2):c.1010G>A (p.Gly337Glu)
|
|
|
NM_001099274.3(TINF2):c.1010del (p.Gly337fs)
|
rs756029660
|
|
NM_001099274.3(TINF2):c.1010dup (p.Arg338fs)
|
|
|
NM_001099274.3(TINF2):c.1012A>G (p.Arg338Gly)
|
|
|
NM_001099274.3(TINF2):c.1016C>T (p.Ala339Val)
|
rs1566366492
|
|
NM_001099274.3(TINF2):c.1019T>C (p.Leu340Pro)
|
|
|
NM_001099274.3(TINF2):c.1025A>C (p.Glu342Ala)
|
rs1555303978
|
|
NM_001099274.3(TINF2):c.1027_1028del (p.Asn343fs)
|
|
|
NM_001099274.3(TINF2):c.1033G>C (p.Val345Leu)
|
|
|
NM_001099274.3(TINF2):c.1035T>C (p.Val345=)
|
|
|
NM_001099274.3(TINF2):c.1047C>T (p.Ala349=)
|
|
|
NM_001099274.3(TINF2):c.1048A>G (p.Thr350Ala)
|
|
|
NM_001099274.3(TINF2):c.104T>C (p.Leu35Pro)
|
rs1440307893
|
|
NM_001099274.3(TINF2):c.1058dup (p.Glu354fs)
|
rs2040546606
|
|
NM_001099274.3(TINF2):c.1061+14A>G
|
rs1040503982
|
|
NM_001099274.3(TINF2):c.1061+1G>T
|
rs1594550523
|
|
NM_001099274.3(TINF2):c.1061+4_1061+7del
|
|
|
NM_001099274.3(TINF2):c.1061+8_1061+9del
|
|
|
NM_001099274.3(TINF2):c.1062-14_1062-11del
|
rs2138996774
|
|
NM_001099274.3(TINF2):c.1062-15T>C
|
|
|
NM_001099274.3(TINF2):c.1062-18T>C
|
|
|
NM_001099274.3(TINF2):c.1062-19_1062-18del
|
|
|
NM_001099274.3(TINF2):c.1062-2A>G
|
|
|
NM_001099274.3(TINF2):c.1062-4T>G
|
rs769661599
|
|
NM_001099274.3(TINF2):c.1067G>A (p.Cys356Tyr)
|
rs1459244615
|
|
NM_001099274.3(TINF2):c.1070_1078dup (p.Cys359_Tyr360insLeuAspCys)
|
|
|
NM_001099274.3(TINF2):c.1075del (p.Cys359fs)
|
|
|
NM_001099274.3(TINF2):c.1076G>C (p.Cys359Ser)
|
rs368350757
|
|
NM_001099274.3(TINF2):c.1079A>G (p.Tyr360Cys)
|
|
|
NM_001099274.3(TINF2):c.1083G>A (p.Met361Ile)
|
rs2040542787
|
|
NM_001099274.3(TINF2):c.1087C>T (p.Pro363Ser)
|
|
|
NM_001099274.3(TINF2):c.1090dup (p.Leu364fs)
|
rs1566366182
|
|
NM_001099274.3(TINF2):c.1093A>G (p.Arg365Gly)
|
rs374740382
|
|
NM_001099274.3(TINF2):c.1096C>A (p.Leu366Ile)
|
rs2138996481
|
|
NM_001099274.3(TINF2):c.1108C>T (p.Pro370Ser)
|
rs2040541718
|
|
NM_001099274.3(TINF2):c.1123_1129+1del
|
rs1335513287
|
|
NM_001099274.3(TINF2):c.1128A>T (p.Pro376=)
|
rs2138996390
|
|
NM_001099274.3(TINF2):c.1130-1G>T
|
rs769640244
|
|
NM_001099274.3(TINF2):c.1130-3_1130-2del
|
rs761173366
|
|
NM_001099274.3(TINF2):c.1130-4A>T
|
|
|
NM_001099274.3(TINF2):c.1130-7C>T
|
|
|
NM_001099274.3(TINF2):c.1136C>G (p.Pro379Arg)
|
|
|
NM_001099274.3(TINF2):c.1151G>A (p.Ser384Asn)
|
|
|
NM_001099274.3(TINF2):c.1157T>A (p.Val386Asp)
|
|
|
NM_001099274.3(TINF2):c.115C>G (p.Arg39Gly)
|
rs1367518236
|
|
NM_001099274.3(TINF2):c.1166T>A (p.Ile389Lys)
|
rs192423622
|
|
NM_001099274.3(TINF2):c.1166T>G (p.Ile389Arg)
|
|
|
NM_001099274.3(TINF2):c.1185C>T (p.Asp395=)
|
|
|
NM_001099274.3(TINF2):c.1188T>C (p.Ser396=)
|
rs2040535359
|
|
NM_001099274.3(TINF2):c.1188TGA[1] (p.Asp397del)
|
|
|
NM_001099274.3(TINF2):c.1209G>C (p.Gln403His)
|
|
|
NM_001099274.3(TINF2):c.1209G>T (p.Gln403His)
|
|
|
NM_001099274.3(TINF2):c.120T>C (p.Ser40=)
|
|
|
NM_001099274.3(TINF2):c.1211G>A (p.Gly404Glu)
|
rs765918306
|
|
NM_001099274.3(TINF2):c.1211G>T (p.Gly404Val)
|
rs765918306
|
|
NM_001099274.3(TINF2):c.1221+11del
|
|
|
NM_001099274.3(TINF2):c.1221+14A>C
|
rs776525717
|
|
NM_001099274.3(TINF2):c.1222-11del
|
rs746206409
|
|
NM_001099274.3(TINF2):c.1222-2A>G
|
rs1205167406
|
|
NM_001099274.3(TINF2):c.1222-3C>T
|
rs760553298
|
|
NM_001099274.3(TINF2):c.1222-4A>T
|
rs2138994887
|
|
NM_001099274.3(TINF2):c.1224A>C (p.Glu408Asp)
|
rs2040530178
|
|
NM_001099274.3(TINF2):c.1224A>G (p.Glu408=)
|
|
|
NM_001099274.3(TINF2):c.1227T>C (p.Ser409=)
|
|
|
NM_001099274.3(TINF2):c.1231G>C (p.Glu411Gln)
|
|
|
NM_001099274.3(TINF2):c.1249A>G (p.Lys417Glu)
|
|
|
NM_001099274.3(TINF2):c.1250A>C (p.Lys417Thr)
|
|
|
NM_001099274.3(TINF2):c.1267C>T (p.Pro423Ser)
|
|
|
NM_001099274.3(TINF2):c.1269C>A (p.Pro423=)
|
rs777077289
|
|
NM_001099274.3(TINF2):c.1269C>T (p.Pro423=)
|
rs777077289
|
|
NM_001099274.3(TINF2):c.126C>T (p.Arg42=)
|
|
|
NM_001099274.3(TINF2):c.1271C>T (p.Thr424Ile)
|
rs1346082542
|
|
NM_001099274.3(TINF2):c.1280A>G (p.Glu427Gly)
|
|
|
NM_001099274.3(TINF2):c.1281A>G (p.Glu427=)
|
rs2040528048
|
|
NM_001099274.3(TINF2):c.1284C>T (p.Tyr428=)
|
|
|
NM_001099274.3(TINF2):c.1285C>A (p.Leu429Ile)
|
rs780647966
|
|
NM_001099274.3(TINF2):c.1285C>G (p.Leu429Val)
|
rs780647966
|
|
NM_001099274.3(TINF2):c.1285C>T (p.Leu429=)
|
rs780647966
|
|
NM_001099274.3(TINF2):c.1288C>A (p.Pro430Thr)
|
rs374776408
|
|
NM_001099274.3(TINF2):c.1288C>G (p.Pro430Ala)
|
|
|
NM_001099274.3(TINF2):c.1288C>T (p.Pro430Ser)
|
rs374776408
|
|
NM_001099274.3(TINF2):c.1289C>T (p.Pro430Leu)
|
|
|
NM_001099274.3(TINF2):c.1290C>A (p.Pro430=)
|
rs201083863
|
|
NM_001099274.3(TINF2):c.1291C>G (p.Pro431Ala)
|
rs756840009
|
|
NM_001099274.3(TINF2):c.1292C>A (p.Pro431His)
|
|
|
NM_001099274.3(TINF2):c.1292del (p.Pro431fs)
|
rs770529422
|
|
NM_001099274.3(TINF2):c.1300C>G (p.His434Asp)
|
|
|
NM_001099274.3(TINF2):c.1302C>A (p.His434Gln)
|
|
|
NM_001099274.3(TINF2):c.1304G>A (p.Gly435Asp)
|
|
|
NM_001099274.3(TINF2):c.1307C>G (p.Ala436Gly)
|
|
|
NM_001099274.3(TINF2):c.131T>A (p.Val44Asp)
|
rs1282299077
|
|
NM_001099274.3(TINF2):c.131T>C (p.Val44Ala)
|
|
|
NM_001099274.3(TINF2):c.1329C>T (p.Asp443=)
|
|
|
NM_001099274.3(TINF2):c.1331G>A (p.Cys444Tyr)
|
rs1455962316
|
|
NM_001099274.3(TINF2):c.1333A>G (p.Arg445Gly)
|
rs2138994183
|
|
NM_001099274.3(TINF2):c.1343C>T (p.Ser448Phe)
|
|
|
NM_001099274.3(TINF2):c.1349C>T (p.Pro450Leu)
|
|
|
NM_001099274.3(TINF2):c.138T>C (p.Pro46=)
|
|
|
NM_001099274.3(TINF2):c.138del (p.Gly47fs)
|
|
|
NM_001099274.3(TINF2):c.144G>C (p.Leu48Phe)
|
rs2139003740
|
|
NM_001099274.3(TINF2):c.146T>C (p.Val49Ala)
|
rs1594555802
|
|
NM_001099274.3(TINF2):c.163G>A (p.Glu55Lys)
|
rs757133062
|
|
NM_001099274.3(TINF2):c.169del (p.Leu57fs)
|
|
|
NM_001099274.3(TINF2):c.16G>C (p.Val6Leu)
|
|
|
NM_001099274.3(TINF2):c.176T>C (p.Met59Thr)
|
rs376204748
|
|
NM_001099274.3(TINF2):c.17dup (p.Ala7fs)
|
|
|
NM_001099274.3(TINF2):c.192+13G>A
|
rs1566369386
|
|
NM_001099274.3(TINF2):c.192+9G>A
|
|
|
NM_001099274.3(TINF2):c.193-7C>T
|
|
|
NM_001099274.3(TINF2):c.199G>A (p.Val67Met)
|
rs2040591219
|
|
NM_001099274.3(TINF2):c.19G>C (p.Ala7Pro)
|
rs1329482510
|
|
NM_001099274.3(TINF2):c.209T>C (p.Ile70Thr)
|
|
|
NM_001099274.3(TINF2):c.20C>T (p.Ala7Val)
|
rs2040599044
|
|
NM_001099274.3(TINF2):c.215A>T (p.Gln72Leu)
|
rs2139003147
|
|
NM_001099274.3(TINF2):c.217G>C (p.Gly73Arg)
|
rs2040590786
|
|
NM_001099274.3(TINF2):c.218G>A (p.Gly73Asp)
|
rs1566369238
|
|
NM_001099274.3(TINF2):c.230C>T (p.Ala77Val)
|
rs1324581269
|
|
NM_001099274.3(TINF2):c.233A>G (p.Gln78Arg)
|
rs2139003067
|
|
NM_001099274.3(TINF2):c.239T>C (p.Leu80Pro)
|
|
|
NM_001099274.3(TINF2):c.240G>A (p.Leu80=)
|
|
|
NM_001099274.3(TINF2):c.240G>C (p.Leu80=)
|
|
|
NM_001099274.3(TINF2):c.250A>C (p.Asn84His)
|
|
|
NM_001099274.3(TINF2):c.257_258del (p.His86fs)
|
rs2040589135
|
|
NM_001099274.3(TINF2):c.262C>A (p.Pro88Thr)
|
rs2139002944
|
|
NM_001099274.3(TINF2):c.274C>T (p.Pro92Ser)
|
rs2040588888
|
|
NM_001099274.3(TINF2):c.27C>T (p.Pro9=)
|
|
|
NM_001099274.3(TINF2):c.280G>C (p.Val94Leu)
|
rs754157164
|
|
NM_001099274.3(TINF2):c.293A>C (p.Lys98Thr)
|
|
|
NM_001099274.3(TINF2):c.294G>A (p.Lys98=)
|
rs1594555123
|
|
NM_001099274.3(TINF2):c.295G>C (p.Ala99Pro)
|
|
|
NM_001099274.3(TINF2):c.297+10C>T
|
rs775877509
|
|
NM_001099274.3(TINF2):c.297+13C>T
|
|
|
NM_001099274.3(TINF2):c.297+18C>A
|
|
|
NM_001099274.3(TINF2):c.297+18C>G
|
|
|
NM_001099274.3(TINF2):c.297+1G>A
|
|
|
NM_001099274.3(TINF2):c.297+4A>G
|
|
|
NM_001099274.3(TINF2):c.297+5G>A
|
rs2139002864
|
|
NM_001099274.3(TINF2):c.298-10T>A
|
rs1317116989
|
|
NM_001099274.3(TINF2):c.298-15C>T
|
|
|
NM_001099274.3(TINF2):c.298-19T>C
|
|
|
NM_001099274.3(TINF2):c.307G>C (p.Asp103His)
|
|
|
NM_001099274.3(TINF2):c.316A>G (p.Lys106Glu)
|
rs2040584780
|
|
NM_001099274.3(TINF2):c.31G>C (p.Ala11Pro)
|
|
|
NM_001099274.3(TINF2):c.324G>C (p.Leu108Phe)
|
rs2139002450
|
|
NM_001099274.3(TINF2):c.333G>T (p.Gln111His)
|
|
|
NM_001099274.3(TINF2):c.334G>C (p.Glu112Gln)
|
|
|
NM_001099274.3(TINF2):c.342_343del (p.Phe114fs)
|
rs2139002396
|
|
NM_001099274.3(TINF2):c.344A>G (p.Tyr115Cys)
|
rs1594554700
|
|
NM_001099274.3(TINF2):c.370G>C (p.Ala124Pro)
|
rs2040583306
|
|
NM_001099274.3(TINF2):c.378G>A (p.Val126=)
|
|
|
NM_001099274.3(TINF2):c.37C>T (p.Arg13Cys)
|
rs2040598351
|
|
NM_001099274.3(TINF2):c.386C>T (p.Ala129Val)
|
|
|
NM_001099274.3(TINF2):c.389C>G (p.Ser130Trp)
|
|
|
NM_001099274.3(TINF2):c.393G>A (p.Lys131=)
|
rs1373380506
|
|
NM_001099274.3(TINF2):c.394C>T (p.Leu132=)
|
|
|
NM_001099274.3(TINF2):c.399+9G>C
|
|
|
NM_001099274.3(TINF2):c.400-10C>T
|
rs2139001198
|
|
NM_001099274.3(TINF2):c.400-11C>G
|
|
|
NM_001099274.3(TINF2):c.400-12C>T
|
|
|
NM_001099274.3(TINF2):c.400-17A>C
|
rs1182153400
|
|
NM_001099274.3(TINF2):c.400-3T>C
|
rs2040574912
|
|
NM_001099274.3(TINF2):c.400-5del
|
rs769170035
|
|
NM_001099274.3(TINF2):c.400-6C>T
|
|
|
NM_001099274.3(TINF2):c.414G>A (p.Glu138=)
|
|
|
NM_001099274.3(TINF2):c.415T>G (p.Tyr139Asp)
|
|
|
NM_001099274.3(TINF2):c.425C>G (p.Pro142Arg)
|
rs770995315
|
|
NM_001099274.3(TINF2):c.433G>A (p.Ala145Thr)
|
rs2139001098
|
|
NM_001099274.3(TINF2):c.43G>C (p.Ala15Pro)
|
|
|
NM_001099274.3(TINF2):c.447G>A (p.Lys149=)
|
rs2040574153
|
|
NM_001099274.3(TINF2):c.450G>C (p.Leu150=)
|
|
|
NM_001099274.3(TINF2):c.455T>C (p.Phe152Ser)
|
|
|
NM_001099274.3(TINF2):c.459G>A (p.Glu153=)
|
|
|
NM_001099274.3(TINF2):c.45C>G (p.Ala15=)
|
rs750285418
|
|
NM_001099274.3(TINF2):c.487C>T (p.Pro163Ser)
|
|
|
NM_001099274.3(TINF2):c.493C>T (p.Pro165Ser)
|
rs2139000919
|
|
NM_001099274.3(TINF2):c.495G>A (p.Pro165=)
|
|
|
NM_001099274.3(TINF2):c.507+12G>A
|
|
|
NM_001099274.3(TINF2):c.507+13del
|
rs780404631
|
|
NM_001099274.3(TINF2):c.507+20T>C
|
|
|
NM_001099274.3(TINF2):c.507+6G>T
|
rs142144996
|
|
NM_001099274.3(TINF2):c.508-10C>T
|
|
|
NM_001099274.3(TINF2):c.508-15T>C
|
rs2139000398
|
|
NM_001099274.3(TINF2):c.508-18C>T
|
rs780585800
|
|
NM_001099274.3(TINF2):c.517G>A (p.Val173Met)
|
rs2040569011
|
|
NM_001099274.3(TINF2):c.525T>C (p.Ser175=)
|
|
|
NM_001099274.3(TINF2):c.526T>C (p.Trp176Arg)
|
|
|
NM_001099274.3(TINF2):c.529A>T (p.Met177Leu)
|
|
|
NM_001099274.3(TINF2):c.530T>G (p.Met177Arg)
|
|
|
NM_001099274.3(TINF2):c.553T>A (p.Ser185Thr)
|
rs2139000156
|
|
NM_001099274.3(TINF2):c.555T>C (p.Ser185=)
|
|
|
NM_001099274.3(TINF2):c.557C>T (p.Ser186Phe)
|
|
|
NM_001099274.3(TINF2):c.564C>G (p.Ala188=)
|
|
|
NM_001099274.3(TINF2):c.567G>T (p.Trp189Cys)
|
|
|
NM_001099274.3(TINF2):c.569G>A (p.Arg190Lys)
|
rs1382407347
|
|
NM_001099274.3(TINF2):c.586A>G (p.Met196Val)
|
rs2040566613
|
|
NM_001099274.3(TINF2):c.588G>C (p.Met196Ile)
|
rs1416935989
|
|
NM_001099274.3(TINF2):c.597G>A (p.Leu199=)
|
|
|
NM_001099274.3(TINF2):c.604+10A>G
|
|
|
NM_001099274.3(TINF2):c.604+13T>C
|
|
|
NM_001099274.3(TINF2):c.604+15G>A
|
|
|
NM_001099274.3(TINF2):c.604G>C (p.Glu202Gln)
|
|
|
NM_001099274.3(TINF2):c.605-17C>T
|
|
|
NM_001099274.3(TINF2):c.605-20G>A
|
|
|
NM_001099274.3(TINF2):c.605-4del
|
|
|
NM_001099274.3(TINF2):c.606del (p.Glu202fs)
|
rs2138999397
|
|
NM_001099274.3(TINF2):c.617C>T (p.Thr206Ile)
|
rs2138999303
|
|
NM_001099274.3(TINF2):c.630C>G (p.Asn210Lys)
|
|
|
NM_001099274.3(TINF2):c.631C>T (p.Leu211=)
|
|
|
NM_001099274.3(TINF2):c.63G>A (p.Gln21=)
|
|
|
NM_001099274.3(TINF2):c.640C>A (p.Pro214Thr)
|
rs372610524
|
|
NM_001099274.3(TINF2):c.648A>C (p.Glu216Asp)
|
|
|
NM_001099274.3(TINF2):c.64G>A (p.Val22Ile)
|
|
|
NM_001099274.3(TINF2):c.659C>T (p.Pro220Leu)
|
rs2040560743
|
|
NM_001099274.3(TINF2):c.667C>G (p.Gln223Glu)
|
|
|
NM_001099274.3(TINF2):c.670A>G (p.Arg224Gly)
|
rs747792016
|
|
NM_001099274.3(TINF2):c.684C>A (p.His228Gln)
|
rs370555134
|
|
NM_001099274.3(TINF2):c.686A>G (p.Asn229Ser)
|
|
|
NM_001099274.3(TINF2):c.695C>T (p.Pro232Leu)
|
|
|
NM_001099274.3(TINF2):c.707C>T (p.Pro236Leu)
|
rs2040559007
|
|
NM_001099274.3(TINF2):c.70C>T (p.Arg24Cys)
|
rs2139004072
|
|
NM_001099274.3(TINF2):c.714A>T (p.Thr238=)
|
|
|
NM_001099274.3(TINF2):c.718C>T (p.Leu240Phe)
|
rs1594551965
|
|
NM_001099274.3(TINF2):c.73G>A (p.Gly25Arg)
|
|
|
NM_001099274.3(TINF2):c.747C>T (p.His249=)
|
|
|
NM_001099274.3(TINF2):c.751G>C (p.Glu251Gln)
|
|
|
NM_001099274.3(TINF2):c.757C>G (p.Leu253Val)
|
|
|
NM_001099274.3(TINF2):c.766C>T (p.Arg256Ter)
|
|
|
NM_001099274.3(TINF2):c.769C>T (p.His257Tyr)
|
|
|
NM_001099274.3(TINF2):c.778C>G (p.Leu260Val)
|
rs1594551733
|
|
NM_001099274.3(TINF2):c.789A>T (p.Leu263=)
|
|
|
NM_001099274.3(TINF2):c.790G>A (p.Gly264Ser)
|
|
|
NM_001099274.3(TINF2):c.794G>A (p.Arg265Gln)
|
|
|
NM_001099274.3(TINF2):c.79T>C (p.Cys27Arg)
|
rs2040597244
|
|
NM_001099274.3(TINF2):c.801A>C (p.Arg267Ser)
|
|
|
NM_001099274.3(TINF2):c.813A>G (p.Gln271=)
|
|
|
NM_001099274.3(TINF2):c.815G>A (p.Trp272Ter)
|
|
|
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter)
|
rs1060499576
|
|
NM_001099274.3(TINF2):c.823A>C (p.Thr275Pro)
|
rs2138998293
|
|
NM_001099274.3(TINF2):c.828G>T (p.Arg276Ser)
|
rs2138998258
|
|
NM_001099274.3(TINF2):c.82G>C (p.Val28Leu)
|
|
|
NM_001099274.3(TINF2):c.831A>G (p.Gly277=)
|
|
|
NM_001099274.3(TINF2):c.837T>C (p.His279=)
|
|
|
NM_001099274.3(TINF2):c.838A>C (p.Lys280Gln)
|
|
|
NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser)
|
rs121918545
|
|
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)
|
rs121918545
|
|
NM_001099274.3(TINF2):c.845G>A (p.Arg282His)
|
rs121918544
|
|
NM_001099274.3(TINF2):c.845_848dup (p.Thr284fs)
|
|
|
NM_001099274.3(TINF2):c.849dup (p.Thr284fs)
|
rs199422315
|
|
NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala)
|
rs199422314
|
|
NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro)
|
rs199422316
|
|
NM_001099274.3(TINF2):c.864T>C (p.Phe288=)
|
rs2138998003
|
|
NM_001099274.3(TINF2):c.867C>T (p.Pro289=)
|
|
|
NM_001099274.3(TINF2):c.869T>C (p.Phe290Ser)
|
|
|
NM_001099274.3(TINF2):c.880G>A (p.Gly294Ser)
|
|
|
NM_001099274.3(TINF2):c.885A>G (p.Ser295=)
|
|
|
NM_001099274.3(TINF2):c.891C>G (p.Thr297=)
|
|
|
NM_001099274.3(TINF2):c.896T>C (p.Val299Ala)
|
rs1050040349
|
|
NM_001099274.3(TINF2):c.900A>G (p.Ile300Met)
|
|
|
NM_001099274.3(TINF2):c.906G>C (p.Lys302Asn)
|
|
|
NM_001099274.3(TINF2):c.910G>A (p.Glu304Lys)
|
rs1566366788
|
|
NM_001099274.3(TINF2):c.914G>A (p.Ser305Asn)
|
|
|
NM_001099274.3(TINF2):c.914G>C (p.Ser305Thr)
|
rs746657282
|
|
NM_001099274.3(TINF2):c.917A>G (p.Lys306Arg)
|
rs1555304016
|
|
NM_001099274.3(TINF2):c.919del (p.Glu307fs)
|
|
|
NM_001099274.3(TINF2):c.922G>C (p.Glu308Gln)
|
rs1232383398
|
|
NM_001099274.3(TINF2):c.926A>T (p.His309Leu)
|
|
|
NM_001099274.3(TINF2):c.927T>G (p.His309Gln)
|
|
|
NM_001099274.3(TINF2):c.928G>A (p.Ala310Thr)
|
rs745711329
|
|
NM_001099274.3(TINF2):c.929C>T (p.Ala310Val)
|
rs2040550859
|
|
NM_001099274.3(TINF2):c.937A>T (p.Thr313Ser)
|
rs1391029850
|
|
NM_001099274.3(TINF2):c.93T>G (p.Phe31Leu)
|
|
|
NM_001099274.3(TINF2):c.948A>G (p.Leu316=)
|
|
|
NM_001099274.3(TINF2):c.954G>C (p.Met318Ile)
|
|
|
NM_001099274.3(TINF2):c.95C>T (p.Pro32Leu)
|
|
|
NM_001099274.3(TINF2):c.968C>T (p.Ala323Val)
|
|
|
NM_001099274.3(TINF2):c.984T>C (p.Ser328=)
|
rs751773020
|
|
NM_001099274.3(TINF2):c.985A>G (p.Lys329Glu)
|
rs1238940302
|
|
NM_001099274.3(TINF2):c.986A>G (p.Lys329Arg)
|
|
|
NM_001099274.3(TINF2):c.9G>A (p.Thr3=)
|
rs748683638
|
|
NM_001099274.3(TINF2):c.9G>C (p.Thr3=)
|
|
|
NM_001143992.2(WRAP53):c.1020T>C (p.Tyr340=)
|
|
|
NM_001143992.2(WRAP53):c.1078C>G (p.Leu360Val)
|
|
|
NM_001143992.2(WRAP53):c.1313C>T (p.Ser438Phe)
|
|
|
NM_001143992.2(WRAP53):c.154C>T (p.Arg52Trp)
|
|
|
NM_001143992.2(WRAP53):c.1564dup (p.Ala522fs)
|
rs755116516
|
|
NM_001143992.2(WRAP53):c.1565C>G (p.Ala522Gly)
|
rs7640
|
|
NM_001143992.2(WRAP53):c.232C>A (p.Pro78Thr)
|
|
|
NM_001143992.2(WRAP53):c.457C>G (p.Leu153Val)
|
rs571153185
|
|
NM_001143992.2(WRAP53):c.599C>G (p.Pro200Arg)
|
|
|
NM_001143992.2(WRAP53):c.611A>G (p.His204Arg)
|
rs2074082963
|
|
NM_001143992.2(WRAP53):c.728C>T (p.Ser243Phe)
|
|
|
NM_001143992.2(WRAP53):c.950C>T (p.Thr317Ile)
|
|
|
NM_001283009.2(RTEL1):c.102+2T>C
|
rs1555899111
|
|
NM_001283009.2(RTEL1):c.1040A>G (p.Tyr347Cys)
|
rs769658909
|
|
NM_001283009.2(RTEL1):c.1107G>A (p.Leu369=)
|
rs1601138735
|
|
NM_001283009.2(RTEL1):c.1135+1G>A
|
rs1555903332
|
|
NM_001283009.2(RTEL1):c.1191+1G>C
|
rs2090461817
|
|
NM_001283009.2(RTEL1):c.1236_1266+47del
|
rs1568703403
|
|
NM_001283009.2(RTEL1):c.1302G>A (p.Thr434=)
|
rs200709485
|
|
NM_001283009.2(RTEL1):c.1396G>A (p.Glu466Lys)
|
rs1219409480
|
|
NM_001283009.2(RTEL1):c.1479G>C (p.Gln493His)
|
rs999309460
|
|
NM_001283009.2(RTEL1):c.1481+8C>G
|
rs758734115
|
|
NM_001283009.2(RTEL1):c.1482-1G>A
|
rs863225129
|
|
NM_001283009.2(RTEL1):c.1583C>A (p.Ala528Glu)
|
rs760398738
|
|
NM_001283009.2(RTEL1):c.1596-8G>C
|
rs374702981
|
|
NM_001283009.2(RTEL1):c.1602C>G (p.Ser534=)
|
rs745339095
|
|
NM_001283009.2(RTEL1):c.1645G>A (p.Ala549Thr)
|
rs1408202470
|
|
NM_001283009.2(RTEL1):c.1722+10C>G
|
rs542270397
|
|
NM_001283009.2(RTEL1):c.1783A>G (p.Lys595Glu)
|
rs914471851
|
|
NM_001283009.2(RTEL1):c.187C>G (p.Leu63Val)
|
rs2090017111
|
|
NM_001283009.2(RTEL1):c.1932G>A (p.Thr644=)
|
rs374107857
|
|
NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu)
|
rs1177091623
|
|
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr)
|
rs148080505
|
|
NM_001283009.2(RTEL1):c.1968T>C (p.Val656=)
|
rs757289575
|
|
NM_001283009.2(RTEL1):c.209G>A (p.Arg70His)
|
rs61736616
|
|
NM_001283009.2(RTEL1):c.2142-3del
|
rs755965232
|
|
NM_001283009.2(RTEL1):c.2169A>G (p.Gln723=)
|
rs1224602711
|
|
NM_001283009.2(RTEL1):c.2194G>A (p.Val732Ile)
|
rs142039934
|
|
NM_001283009.2(RTEL1):c.2229A>G (p.Arg743=)
|
rs1601170877
|
|
NM_001283009.2(RTEL1):c.2261G>T (p.Arg754Leu)
|
rs141423196
|
|
NM_001283009.2(RTEL1):c.2265+1G>T
|
rs2145431062
|
|
NM_001283009.2(RTEL1):c.2284C>G (p.Arg762Gly)
|
rs750251447
|
|
NM_001283009.2(RTEL1):c.228G>A (p.Ala76=)
|
rs116624637
|
|
NM_001283009.2(RTEL1):c.2291C>T (p.Thr764Ile)
|
rs767774517
|
|
NM_001283009.2(RTEL1):c.2337G>A (p.Ser779=)
|
rs769675904
|
|
NM_001283009.2(RTEL1):c.2348TCT[1] (p.Phe784del)
|
rs771771098
|
|
NM_001283009.2(RTEL1):c.2370G>A (p.Lys790=)
|
rs553827008
|
|
NM_001283009.2(RTEL1):c.2389C>G (p.Pro797Ala)
|
rs2090707732
|
|
NM_001283009.2(RTEL1):c.2413+1G>C
|
rs776744306
|
|
NM_001283009.2(RTEL1):c.2585T>G (p.Leu862Arg)
|
rs765909720
|
|
NM_001283009.2(RTEL1):c.2588C>T (p.Ser863Phe)
|
rs1029017182
|
|
NM_001283009.2(RTEL1):c.2602G>A (p.Ala868Thr)
|
rs2090751615
|
|
NM_001283009.2(RTEL1):c.2617G>A (p.Gly873Arg)
|
rs2090752058
|
|
NM_001283009.2(RTEL1):c.2636G>T (p.Arg879Leu)
|
rs770539835
|
|
NM_001283009.2(RTEL1):c.2652+5G>A
|
rs1555812507
|
|
NM_001283009.2(RTEL1):c.2653-7C>G
|
rs1472538837
|
|
NM_001283009.2(RTEL1):c.2653G>C (p.Glu885Gln)
|
rs2090784564
|
|
NM_001283009.2(RTEL1):c.2662G>A (p.Val888Met)
|
rs200505378
|
|
NM_001283009.2(RTEL1):c.2662G>C (p.Val888Leu)
|
rs200505378
|
|
NM_001283009.2(RTEL1):c.2700G>A (p.Met900Ile)
|
rs2145445906
|
|
NM_001283009.2(RTEL1):c.2733C>G (p.Asn911Lys)
|
rs372027131
|
|
NM_001283009.2(RTEL1):c.2784C>T (p.Phe928=)
|
rs3848672
|
|
NM_001283009.2(RTEL1):c.2797G>A (p.Ala933Thr)
|
rs781430438
|
|
NM_001283009.2(RTEL1):c.2799C>T (p.Ala933=)
|
rs929062749
|
|
NM_001283009.2(RTEL1):c.280G>A (p.Ala94Thr)
|
rs371690600
|
|
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs)
|
rs1449687529
|
|
NM_001283009.2(RTEL1):c.2828C>G (p.Pro943Arg)
|
rs142969505
|
|
NM_001283009.2(RTEL1):c.2840A>G (p.Asn947Ser)
|
rs761268803
|
|
NM_001283009.2(RTEL1):c.2851+1G>A
|
rs1421904176
|
|
NM_001283009.2(RTEL1):c.2851+4C>T
|
rs751450627
|
|
NM_001283009.2(RTEL1):c.2852-12C>T
|
rs745776915
|
|
NM_001283009.2(RTEL1):c.2869C>A (p.Arg957=)
|
rs398123018
|
|
NM_001283009.2(RTEL1):c.2871G>A (p.Arg957=)
|
rs1282351226
|
|
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu)
|
rs1470145133
|
|
NM_001283009.2(RTEL1):c.2898G>A (p.Glu966=)
|
rs115464632
|
|
NM_001283009.2(RTEL1):c.2909A>G (p.Gln970Arg)
|
rs2090804992
|
|
NM_001283009.2(RTEL1):c.2924G>C (p.Gly975Ala)
|
rs757725471
|
|
NM_001283009.2(RTEL1):c.2932T>C (p.Tyr978His)
|
rs534046818
|
|
NM_001283009.2(RTEL1):c.2937G>C (p.Arg979=)
|
rs768689934
|
|
NM_001283009.2(RTEL1):c.2939C>T (p.Pro980Leu)
|
rs1340326956
|
|
NM_001283009.2(RTEL1):c.2968G>A (p.Ala990Thr)
|
rs751124641
|
|
NM_001283009.2(RTEL1):c.2975C>G (p.Pro992Arg)
|
rs143967591
|
|
NM_001283009.2(RTEL1):c.2975C>T (p.Pro992Leu)
|
rs143967591
|
|
NM_001283009.2(RTEL1):c.2979C>A (p.Val993=)
|
rs116365288
|
|
NM_001283009.2(RTEL1):c.2985C>G (p.Asp995Glu)
|
rs762474261
|
|
NM_001283009.2(RTEL1):c.2987C>T (p.Pro996Leu)
|
rs373210484
|
|
NM_001283009.2(RTEL1):c.2990C>G (p.Thr997Ser)
|
rs1046295138
|
|
NM_001283009.2(RTEL1):c.2993-8_2993-6del
|
rs761735369
|
|
NM_001283009.2(RTEL1):c.3008A>C (p.Asp1003Ala)
|
rs2090912360
|
|
NM_001283009.2(RTEL1):c.3020C>T (p.Thr1007Ile)
|
rs776712596
|
|
NM_001283009.2(RTEL1):c.3029C>T (p.Thr1010Met)
|
rs750539539
|
|
NM_001283009.2(RTEL1):c.3046C>T (p.Leu1016=)
|
rs1601194528
|
|
NM_001283009.2(RTEL1):c.3110-10C>G
|
rs2090927100
|
|
NM_001283009.2(RTEL1):c.3110-2A>C
|
rs377461417
|
|
NM_001283009.2(RTEL1):c.311C>A (p.Thr104Lys)
|
rs367809459
|
|
NM_001283009.2(RTEL1):c.312G>A (p.Thr104=)
|
rs1348086708
|
|
NM_001283009.2(RTEL1):c.3238T>C (p.Leu1080=)
|
rs2145475291
|
|
NM_001283009.2(RTEL1):c.3282G>T (p.Lys1094Asn)
|
rs778086975
|
|
NM_001283009.2(RTEL1):c.3295T>C (p.Leu1099=)
|
rs771667984
|
|
NM_001283009.2(RTEL1):c.3303C>G (p.Ala1101=)
|
rs776426684
|
|
NM_001283009.2(RTEL1):c.3314C>G (p.Ala1105Gly)
|
rs1193975279
|
|
NM_001283009.2(RTEL1):c.3328T>G (p.Phe1110Val)
|
rs754275053
|
|
NM_001283009.2(RTEL1):c.3370del (p.His1124fs)
|
rs1555814400
|
|
NM_001283009.2(RTEL1):c.3392C>G (p.Thr1131Arg)
|
rs372852392
|
|
NM_001283009.2(RTEL1):c.3412C>A (p.Arg1138=)
|
rs6062495
|
|
NM_001283009.2(RTEL1):c.3412C>T (p.Arg1138Trp)
|
rs6062495
|
|
NM_001283009.2(RTEL1):c.3419A>G (p.Tyr1140Cys)
|
rs200622914
|
|
NM_001283009.2(RTEL1):c.3443C>A (p.Pro1148His)
|
rs116773320
|
|
NM_001283009.2(RTEL1):c.3499+5_3499+6insT
|
rs2145478219
|
|
NM_001283009.2(RTEL1):c.3528G>C (p.Lys1176Asn)
|
rs367598119
|
|
NM_001283009.2(RTEL1):c.3608G>A (p.Ser1203Asn)
|
rs2145479866
|
|
NM_001283009.2(RTEL1):c.3629A>G (p.His1210Arg)
|
rs1601199974
|
|
NM_001283009.2(RTEL1):c.3823G>T (p.Ala1275Ser)
|
rs2090966039
|
|
NM_001283009.2(RTEL1):c.3834G>A (p.Met1278Ile)
|
rs1428387350
|
|
NM_001283009.2(RTEL1):c.396-20A>G
|
rs1601086623
|
|
NM_001283009.2(RTEL1):c.402G>A (p.Lys134=)
|
rs6062480
|
|
NM_001283009.2(RTEL1):c.422G>A (p.Arg141Gln)
|
rs1242481082
|
|
NM_001283009.2(RTEL1):c.45C>A (p.Phe15Leu)
|
rs1296968885
|
|
NM_001283009.2(RTEL1):c.477+6C>T
|
rs1321816687
|
|
NM_001283009.2(RTEL1):c.491G>A (p.Arg164His)
|
rs377176432
|
|
NM_001283009.2(RTEL1):c.49C>T (p.Pro17Ser)
|
rs1555899096
|
|
NM_001283009.2(RTEL1):c.580A>G (p.Ile194Val)
|
rs963605629
|
|
NM_001283009.2(RTEL1):c.664A>G (p.Ile222Val)
|
rs1235107432
|
|
NM_001283009.2(RTEL1):c.675G>A (p.Pro225=)
|
rs762854518
|
|
NM_001283009.2(RTEL1):c.716A>G (p.Asn239Ser)
|
rs375403784
|
|
NM_001283009.2(RTEL1):c.744C>T (p.Ile248=)
|
rs748518636
|
|
NM_001283009.2(RTEL1):c.802A>G (p.Thr268Ala)
|
rs115889392
|
|
NM_001283009.2(RTEL1):c.878G>A (p.Gly293Asp)
|
rs779999090
|
|
NM_001283009.2(RTEL1):c.884C>G (p.Pro295Arg)
|
rs781117322
|
|
NM_001283009.2(RTEL1):c.900C>T (p.Ser300=)
|
rs146100165
|
|
NM_001283009.2(RTEL1):c.901_919+72del
|
rs1569090870
|
|
NM_001363.5(DKC1):c.1020A>G (p.Gly340=)
|
|
|
NM_001363.5(DKC1):c.1027A>G (p.Ile343Val)
|
rs958540765
|
|
NM_001363.5(DKC1):c.1036+10G>C
|
|
|
NM_001363.5(DKC1):c.1036+13G>A
|
|
|
NM_001363.5(DKC1):c.1036+19T>G
|
|
|
NM_001363.5(DKC1):c.1036+6_1036+7del
|
rs1557264868
|
|
NM_001363.5(DKC1):c.1036+7G>A
|
|
|
NM_001363.5(DKC1):c.1037-13T>A
|
|
|
NM_001363.5(DKC1):c.1037-19C>T
|
|
|
NM_001363.5(DKC1):c.1037-20T>C
|
|
|
NM_001363.5(DKC1):c.1039A>G (p.Ile347Val)
|
rs1248744087
|
|
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val)
|
rs121912288
|
|
NM_001363.5(DKC1):c.1059G>C (p.Ala353=)
|
|
|
NM_001363.5(DKC1):c.1065C>A (p.Ile355=)
|
|
|
NM_001363.5(DKC1):c.1066T>C (p.Ser356Pro)
|
|
|
NM_001363.5(DKC1):c.1091C>G (p.Ala364Gly)
|
rs2148515101
|
|
NM_001363.5(DKC1):c.109_111del (p.Leu37del)
|
rs137854489
|
|
NM_001363.5(DKC1):c.1114G>C (p.Glu372Gln)
|
rs2148515114
|
|
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)
|
rs1057520719
|
|
NM_001363.5(DKC1):c.1143T>G (p.Gly381=)
|
|
|
NM_001363.5(DKC1):c.1155+15del
|
|
|
NM_001363.5(DKC1):c.1155+19C>T
|
|
|
NM_001363.5(DKC1):c.1156-10G>A
|
|
|
NM_001363.5(DKC1):c.1156-13G>A
|
|
|
NM_001363.5(DKC1):c.1156-14del
|
rs782420759
|
|
NM_001363.5(DKC1):c.1156-16C>G
|
|
|
NM_001363.5(DKC1):c.1156-17C>T
|
|
|
NM_001363.5(DKC1):c.1164G>A (p.Gln388=)
|
|
|
NM_001363.5(DKC1):c.1171C>A (p.Leu391Met)
|
rs2148516382
|
|
NM_001363.5(DKC1):c.1171C>T (p.Leu391=)
|
|
|
NM_001363.5(DKC1):c.1179C>A (p.Ile393=)
|
rs2148516390
|
|
NM_001363.5(DKC1):c.1188C>T (p.Gly396=)
|
|
|
NM_001363.5(DKC1):c.1194G>A (p.Leu398=)
|
|
|
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys)
|
rs121912302
|
|
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile)
|
rs199422254
|
|
NM_001363.5(DKC1):c.1233C>T (p.Thr411=)
|
|
|
NM_001363.5(DKC1):c.1245G>A (p.Glu415=)
|
rs2148516440
|
|
NM_001363.5(DKC1):c.1259+7dup
|
|
|
NM_001363.5(DKC1):c.1259+8C>T
|
|
|
NM_001363.5(DKC1):c.1260-11C>T
|
|
|
NM_001363.5(DKC1):c.1260-12C>T
|
|
|
NM_001363.5(DKC1):c.1266T>G (p.Ser422=)
|
rs2148516857
|
|
NM_001363.5(DKC1):c.1269C>T (p.Ala423=)
|
|
|
NM_001363.5(DKC1):c.126C>G (p.Ser42=)
|
rs2148509477
|
|
NM_001363.5(DKC1):c.1275_1277del (p.Glu426del)
|
|
|
NM_001363.5(DKC1):c.1276G>C (p.Glu426Gln)
|
rs2071881185
|
|
NM_001363.5(DKC1):c.1281_1310del (p.Val431_Glu440del)
|
|
|
NM_001363.5(DKC1):c.1293_1295del (p.Val432del)
|
|
|
NM_001363.5(DKC1):c.1294G>T (p.Val432Leu)
|
|
|
NM_001363.5(DKC1):c.12G>A (p.Ala4=)
|
|
|
NM_001363.5(DKC1):c.1302C>T (p.Ala434=)
|
|
|
NM_001363.5(DKC1):c.1304C>T (p.Pro435Leu)
|
|
|
NM_001363.5(DKC1):c.1328A>C (p.Lys443Thr)
|
|
|
NM_001363.5(DKC1):c.1338+10A>T
|
|
|
NM_001363.5(DKC1):c.1338+14T>C
|
|
|
NM_001363.5(DKC1):c.1338+15G>C
|
|
|
NM_001363.5(DKC1):c.1338+18C>G
|
|
|
NM_001363.5(DKC1):c.1338+20C>T
|
rs2148516959
|
|
NM_001363.5(DKC1):c.1338+3G>C
|
|
|
NM_001363.5(DKC1):c.1339-13G>A
|
|
|
NM_001363.5(DKC1):c.1339-19C>T
|
|
|
NM_001363.5(DKC1):c.1339-20A>C
|
|
|
NM_001363.5(DKC1):c.1339-8C>T
|
|
|
NM_001363.5(DKC1):c.1343A>G (p.Lys448Arg)
|
rs2148517505
|
|
NM_001363.5(DKC1):c.1346G>C (p.Arg449Pro)
|
rs1289430524
|
|
NM_001363.5(DKC1):c.1352G>A (p.Ser451Asn)
|
rs2071893244
|
|
NM_001363.5(DKC1):c.1352G>C (p.Ser451Thr)
|
rs2071893244
|
|
NM_001363.5(DKC1):c.1356G>A (p.Glu452=)
|
|
|
NM_001363.5(DKC1):c.1368C>T (p.Asp456=)
|
|
|
NM_001363.5(DKC1):c.1373C>G (p.Thr458Ser)
|
rs2071893601
|
|
NM_001363.5(DKC1):c.1373C>T (p.Thr458Ile)
|
|
|
NM_001363.5(DKC1):c.1383A>G (p.Ala461=)
|
rs1293654532
|
|
NM_001363.5(DKC1):c.1387C>A (p.Pro463Thr)
|
rs782434084
|
|
NM_001363.5(DKC1):c.1398C>G (p.Ile466Met)
|
|
|
NM_001363.5(DKC1):c.1404G>A (p.Lys468=)
|
|
|
NM_001363.5(DKC1):c.1409AGA[2] (p.Lys472del)
|
rs781922569
|
|
NM_001363.5(DKC1):c.1416G>A (p.Lys472=)
|
rs2148517591
|
|
NM_001363.5(DKC1):c.142G>A (p.Asp48Asn)
|
|
|
NM_001363.5(DKC1):c.1462G>A (p.Glu488Lys)
|
|
|
NM_001363.5(DKC1):c.146C>T (p.Thr49Met)
|
rs121912304
|
|
NM_001363.5(DKC1):c.1473T>C (p.Asp491=)
|
|
|
NM_001363.5(DKC1):c.1476+11A>G
|
rs2148517651
|
|
NM_001363.5(DKC1):c.1476+14C>T
|
|
|
NM_001363.5(DKC1):c.1477-10T>C
|
|
|
NM_001363.5(DKC1):c.1477-10_1477-9del
|
|
|
NM_001363.5(DKC1):c.1477-13T>G
|
|
|
NM_001363.5(DKC1):c.1477-14_1477-11del
|
|
|
NM_001363.5(DKC1):c.1477-1G>C
|
rs2148517984
|
|
NM_001363.5(DKC1):c.1477-20T>C
|
|
|
NM_001363.5(DKC1):c.1477-28_1477-18del
|
|
|
NM_001363.5(DKC1):c.1477-8C>G
|
|
|
NM_001363.5(DKC1):c.1479C>T (p.Asp493=)
|
|
|
NM_001363.5(DKC1):c.147G>A (p.Thr49=)
|
|
|
NM_001363.5(DKC1):c.1482T>C (p.Ser494=)
|
rs2148518000
|
|
NM_001363.5(DKC1):c.1494GAA[4] (p.Lys503_Lys505del)
|
rs782576893
|
|
NM_001363.5(DKC1):c.1494GAA[5] (p.Lys504_Lys505del)
|
rs782576893
|
|
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)
|
rs782576893
|
|
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)
|
rs782576893
|
|
NM_001363.5(DKC1):c.1494GAA[9] (p.Lys504_Lys505dup)
|
rs782576893
|
|
NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr)
|
rs1569558474
|
|
NM_001363.5(DKC1):c.1512G>T (p.Lys504Asn)
|
rs1557265783
|
|
NM_001363.5(DKC1):c.1524G>T (p.Glu508Asp)
|
rs186518477
|
|
NM_001363.5(DKC1):c.1531T>C (p.Leu511=)
|
|
|
NM_001363.5(DKC1):c.159C>T (p.Pro53=)
|
rs2148509505
|
|
NM_001363.5(DKC1):c.16+10G>T
|
|
|
NM_001363.5(DKC1):c.16+11C>T
|
|
|
NM_001363.5(DKC1):c.16+18C>G
|
|
|
NM_001363.5(DKC1):c.16+24_16+39del
|
rs2148507554
|
|
NM_001363.5(DKC1):c.16+8C>T
|
|
|
NM_001363.5(DKC1):c.17-10G>A
|
rs2148509118
|
|
NM_001363.5(DKC1):c.17-14_17-13del
|
rs782596086
|
|
NM_001363.5(DKC1):c.17-16G>A
|
|
|
NM_001363.5(DKC1):c.17-16G>T
|
|
|
NM_001363.5(DKC1):c.17-7T>A
|
|
|
NM_001363.5(DKC1):c.17-9T>A
|
|
|
NM_001363.5(DKC1):c.171+14del
|
rs782433339
|
|
NM_001363.5(DKC1):c.171+16C>G
|
|
|
NM_001363.5(DKC1):c.171+16C>T
|
|
|
NM_001363.5(DKC1):c.171+17G>A
|
|
|
NM_001363.5(DKC1):c.171+8G>A
|
rs2071734340
|
|
NM_001363.5(DKC1):c.172-12G>C
|
|
|
NM_001363.5(DKC1):c.172-18_172-14del
|
|
|
NM_001363.5(DKC1):c.189T>C (p.Asn63=)
|
|
|
NM_001363.5(DKC1):c.191T>G (p.Val64Gly)
|
rs2071739379
|
|
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala)
|
rs121912297
|
|
NM_001363.5(DKC1):c.207T>C (p.Tyr69=)
|
|
|
NM_001363.5(DKC1):c.211C>T (p.Pro71Ser)
|
|
|
NM_001363.5(DKC1):c.219A>G (p.Ala73=)
|
|
|
NM_001363.5(DKC1):c.220T>C (p.Cys74Arg)
|
rs2148509751
|
|
NM_001363.5(DKC1):c.243A>G (p.Arg81=)
|
|
|
NM_001363.5(DKC1):c.244G>C (p.Glu82Gln)
|
|
|
NM_001363.5(DKC1):c.252G>A (p.Gly84=)
|
|
|
NM_001363.5(DKC1):c.253G>A (p.Asp85Asn)
|
rs2148509772
|
|
NM_001363.5(DKC1):c.263+11G>A
|
|
|
NM_001363.5(DKC1):c.263+13del
|
rs1343619839
|
|
NM_001363.5(DKC1):c.263+20A>C
|
|
|
NM_001363.5(DKC1):c.263+6T>C
|
rs2071741038
|
|
NM_001363.5(DKC1):c.263+7G>T
|
|
|
NM_001363.5(DKC1):c.264-10T>C
|
|
|
NM_001363.5(DKC1):c.264-14T>C
|
|
|
NM_001363.5(DKC1):c.264-9C>T
|
rs1300109572
|
|
NM_001363.5(DKC1):c.277A>T (p.Asn93Tyr)
|
rs2148509897
|
|
NM_001363.5(DKC1):c.300C>G (p.Pro100=)
|
|
|
NM_001363.5(DKC1):c.30A>G (p.Pro10=)
|
|
|
NM_001363.5(DKC1):c.315G>A (p.Val105=)
|
rs2148509927
|
|
NM_001363.5(DKC1):c.332G>A (p.Arg111Gln)
|
rs1036880108
|
|
NM_001363.5(DKC1):c.354A>C (p.Thr118=)
|
|
|
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)
|
rs121912305
|
|
NM_001363.5(DKC1):c.417C>T (p.Ala139=)
|
|
|
NM_001363.5(DKC1):c.420T>C (p.Thr140=)
|
|
|
NM_001363.5(DKC1):c.421C>A (p.Arg141Ser)
|
|
|
NM_001363.5(DKC1):c.421C>T (p.Arg141Cys)
|
|
|
NM_001363.5(DKC1):c.42G>A (p.Lys14=)
|
|
|
NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del)
|
rs782201995
|
|
NM_001363.5(DKC1):c.438A>G (p.Gln146=)
|
|
|
NM_001363.5(DKC1):c.448+11G>A
|
|
|
NM_001363.5(DKC1):c.448+18G>A
|
rs2148510020
|
|
NM_001363.5(DKC1):c.448+19G>A
|
|
|
NM_001363.5(DKC1):c.448+19G>C
|
|
|
NM_001363.5(DKC1):c.448+19G>T
|
|
|
NM_001363.5(DKC1):c.449-13T>C
|
rs2148510453
|
|
NM_001363.5(DKC1):c.449-17C>T
|
|
|
NM_001363.5(DKC1):c.475C>T (p.Leu159=)
|
|
|
NM_001363.5(DKC1):c.484G>A (p.Ala162Thr)
|
rs2071754474
|
|
NM_001363.5(DKC1):c.487A>C (p.Ile163Leu)
|
rs782159247
|
|
NM_001363.5(DKC1):c.494G>T (p.Gly165Val)
|
rs782622660
|
|
NM_001363.5(DKC1):c.498G>A (p.Gly166=)
|
|
|
NM_001363.5(DKC1):c.498G>C (p.Gly166=)
|
|
|
NM_001363.5(DKC1):c.513+12A>G
|
|
|
NM_001363.5(DKC1):c.513+19G>A
|
|
|
NM_001363.5(DKC1):c.513+20G>A
|
|
|
NM_001363.5(DKC1):c.513+7_513+8del
|
|
|
NM_001363.5(DKC1):c.514-10T>G
|
|
|
NM_001363.5(DKC1):c.514-14G>T
|
|
|
NM_001363.5(DKC1):c.514-18_514-15del
|
|
|
NM_001363.5(DKC1):c.514-4T>G
|
|
|
NM_001363.5(DKC1):c.514-8G>T
|
rs2148510635
|
|
NM_001363.5(DKC1):c.516C>T (p.Ala172=)
|
|
|
NM_001363.5(DKC1):c.522A>G (p.Glu174=)
|
rs782471921
|
|
NM_001363.5(DKC1):c.52_54del (p.Glu18del)
|
rs2071726998
|
|
NM_001363.5(DKC1):c.540A>G (p.Leu180=)
|
rs781897987
|
|
NM_001363.5(DKC1):c.546G>A (p.Gln182=)
|
|
|
NM_001363.5(DKC1):c.548G>A (p.Arg183Gln)
|
|
|
NM_001363.5(DKC1):c.559A>C (p.Ile187Leu)
|
|
|
NM_001363.5(DKC1):c.568G>A (p.Val190Ile)
|
rs2071758363
|
|
NM_001363.5(DKC1):c.576G>A (p.Arg192=)
|
|
|
NM_001363.5(DKC1):c.579G>A (p.Gln193=)
|
|
|
NM_001363.5(DKC1):c.591G>A (p.Arg197=)
|
|
|
NM_001363.5(DKC1):c.59A>G (p.Lys20Arg)
|
|
|
NM_001363.5(DKC1):c.5C>T (p.Ala2Val)
|
rs121912303
|
|
NM_001363.5(DKC1):c.5_7del (p.Ala2del)
|
|
|
NM_001363.5(DKC1):c.621C>T (p.Tyr207=)
|
|
|
NM_001363.5(DKC1):c.629A>G (p.Glu210Gly)
|
rs2071759206
|
|
NM_001363.5(DKC1):c.62C>T (p.Ser21Leu)
|
|
|
NM_001363.5(DKC1):c.640+8A>C
|
|
|
NM_001363.5(DKC1):c.641-19_641-18del
|
|
|
NM_001363.5(DKC1):c.641-9G>T
|
|
|
NM_001363.5(DKC1):c.669C>T (p.Gly223=)
|
|
|
NM_001363.5(DKC1):c.67C>A (p.Pro23Thr)
|
|
|
NM_001363.5(DKC1):c.684A>G (p.Thr228=)
|
|
|
NM_001363.5(DKC1):c.690T>C (p.Cys230=)
|
|
|
NM_001363.5(DKC1):c.709T>C (p.Leu237=)
|
|
|
NM_001363.5(DKC1):c.70G>A (p.Glu24Lys)
|
rs2148509194
|
|
NM_001363.5(DKC1):c.739C>A (p.Arg247=)
|
|
|
NM_001363.5(DKC1):c.753T>A (p.Ser251=)
|
|
|
NM_001363.5(DKC1):c.75A>G (p.Glu25=)
|
rs2148509198
|
|
NM_001363.5(DKC1):c.75A>T (p.Glu25Asp)
|
|
|
NM_001363.5(DKC1):c.763A>G (p.Ser255Gly)
|
|
|
NM_001363.5(DKC1):c.771+11C>T
|
|
|
NM_001363.5(DKC1):c.771+12G>A
|
|
|
NM_001363.5(DKC1):c.771+12G>T
|
|
|
NM_001363.5(DKC1):c.771+16del
|
|
|
NM_001363.5(DKC1):c.771+19G>C
|
rs2148511663
|
|
NM_001363.5(DKC1):c.772-10del
|
|
|
NM_001363.5(DKC1):c.772-15A>G
|
|
|
NM_001363.5(DKC1):c.772-9G>A
|
|
|
NM_001363.5(DKC1):c.772-9G>C
|
|
|
NM_001363.5(DKC1):c.778A>G (p.Met260Val)
|
|
|
NM_001363.5(DKC1):c.795T>C (p.Asp265=)
|
|
|
NM_001363.5(DKC1):c.816G>C (p.Leu272=)
|
|
|
NM_001363.5(DKC1):c.822T>C (p.Asp274=)
|
rs1002559487
|
|
NM_001363.5(DKC1):c.828C>T (p.His276=)
|
rs1603429504
|
|
NM_001363.5(DKC1):c.84+10A>T
|
rs782718798
|
|
NM_001363.5(DKC1):c.84+13G>C
|
|
|
NM_001363.5(DKC1):c.84+15dup
|
|
|
NM_001363.5(DKC1):c.84+16T>A
|
|
|
NM_001363.5(DKC1):c.84+19G>T
|
|
|
NM_001363.5(DKC1):c.84+8del
|
|
|
NM_001363.5(DKC1):c.843C>T (p.Tyr281=)
|
|
|
NM_001363.5(DKC1):c.85-18A>G
|
|
|
NM_001363.5(DKC1):c.867G>A (p.Leu289=)
|
|
|
NM_001363.5(DKC1):c.877T>C (p.Leu293=)
|
rs1603429508
|
|
NM_001363.5(DKC1):c.882A>G (p.Thr294=)
|
|
|
NM_001363.5(DKC1):c.884C>T (p.Ser295Phe)
|
rs2071791712
|
|
NM_001363.5(DKC1):c.88A>G (p.Ile30Val)
|
|
|
NM_001363.5(DKC1):c.894G>T (p.Arg298=)
|
|
|
NM_001363.5(DKC1):c.897G>A (p.Leu299=)
|
|
|
NM_001363.5(DKC1):c.906A>G (p.Lys302=)
|
|
|
NM_001363.5(DKC1):c.90A>C (p.Ile30=)
|
|
|
NM_001363.5(DKC1):c.915+10G>A
|
rs1603429509
|
|
NM_001363.5(DKC1):c.915+17G>A
|
rs2148512556
|
|
NM_001363.5(DKC1):c.915+19G>A
|
|
|
NM_001363.5(DKC1):c.916-11C>T
|
|
|
NM_001363.5(DKC1):c.916-12C>G
|
|
|
NM_001363.5(DKC1):c.916-15dup
|
rs1218146343
|
|
NM_001363.5(DKC1):c.916-5T>C
|
rs2148513598
|
|
NM_001363.5(DKC1):c.916-6C>T
|
rs782345716
|
|
NM_001363.5(DKC1):c.930C>T (p.Cys310=)
|
|
|
NM_001363.5(DKC1):c.936G>A (p.Gly312=)
|
|
|
NM_001363.5(DKC1):c.939C>T (p.Ala313=)
|
|
|
NM_001363.5(DKC1):c.948G>T (p.Met316Ile)
|
rs2148513624
|
|
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln)
|
rs121912291
|
|
NM_001363.5(DKC1):c.969T>C (p.Tyr323=)
|
rs2148513634
|
|
NM_001363.5(DKC1):c.979A>G (p.Ile327Val)
|
rs2071814299
|
|
NM_001363.5(DKC1):c.984G>A (p.Glu328=)
|
|
|
NM_001363.5(DKC1):c.985G>A (p.Val329Ile)
|
rs2071814456
|
|
NM_001363.5(DKC1):c.993G>T (p.Gln331His)
|
|
|
NM_001363.5(DKC1):c.999T>C (p.Ile333=)
|
|
|
NM_001363.5(DKC1):c.99T>C (p.Ala33=)
|
|
|
NM_002582.3(PARN):c.[659+4_659+7delAGTA(;)863dupA]
|
|
|
NM_002582.4(PARN):c.1148C>T (p.Ala383Val)
|
rs786200999
|
|
NM_017838.4(NHP2):c.104C>T (p.Ala35Val)
|
|
|
NM_017838.4(NHP2):c.106dup (p.Gln36fs)
|
rs1756333644
|
|
NM_017838.4(NHP2):c.115G>A (p.Ala39Thr)
|
|
|
NM_017838.4(NHP2):c.116C>A (p.Ala39Asp)
|
rs1439650238
|
|
NM_017838.4(NHP2):c.120_122del (p.Arg42del)
|
|
|
NM_017838.4(NHP2):c.122_129del (p.Arg41fs)
|
rs1756332858
|
|
NM_017838.4(NHP2):c.130A>T (p.Thr44Ser)
|
|
|
NM_017838.4(NHP2):c.132G>A (p.Thr44=)
|
rs764657822
|
|
NM_017838.4(NHP2):c.155A>G (p.Lys52Arg)
|
rs2113476542
|
|
NM_017838.4(NHP2):c.156G>C (p.Lys52Asn)
|
|
|
NM_017838.4(NHP2):c.157A>G (p.Lys53Glu)
|
|
|
NM_017838.4(NHP2):c.15G>A (p.Lys5=)
|
|
|
NM_017838.4(NHP2):c.160+10A>C
|
rs376220034
|
|
NM_017838.4(NHP2):c.160+10A>G
|
rs376220034
|
|
NM_017838.4(NHP2):c.160+10A>T
|
rs376220034
|
|
NM_017838.4(NHP2):c.160+11C>A
|
rs201274409
|
|
NM_017838.4(NHP2):c.160+11C>G
|
rs201274409
|
|
NM_017838.4(NHP2):c.160+11C>T
|
rs201274409
|
|
NM_017838.4(NHP2):c.160+12G>A
|
|
|
NM_017838.4(NHP2):c.160+13G>A
|
rs2113476424
|
|
NM_017838.4(NHP2):c.160+14C>A
|
|
|
NM_017838.4(NHP2):c.160+16G>A
|
|
|
NM_017838.4(NHP2):c.160+4A>C
|
rs1419452406
|
|
NM_017838.4(NHP2):c.160+4A>G
|
|
|
NM_017838.4(NHP2):c.160+5G>C
|
|
|
NM_017838.4(NHP2):c.160+7C>T
|
|
|
NM_017838.4(NHP2):c.160+9del
|
|
|
NM_017838.4(NHP2):c.160G>A (p.Ala54Thr)
|
|
|
NM_017838.4(NHP2):c.161-15C>G
|
rs774227396
|
|
NM_017838.4(NHP2):c.161-4G>A
|
|
|
NM_017838.4(NHP2):c.161-5T>G
|
|
|
NM_017838.4(NHP2):c.161-7G>A
|
|
|
NM_017838.4(NHP2):c.161-8C>T
|
|
|
NM_017838.4(NHP2):c.162G>C (p.Ala54=)
|
|
|
NM_017838.4(NHP2):c.163G>A (p.Val55Met)
|
rs1756327381
|
|
NM_017838.4(NHP2):c.167A>G (p.Lys56Arg)
|
rs2113476084
|
|
NM_017838.4(NHP2):c.172A>C (p.Lys58Gln)
|
|
|
NM_017838.4(NHP2):c.177G>C (p.Gln59His)
|
rs2113476075
|
|
NM_017838.4(NHP2):c.17C>T (p.Ala6Val)
|
|
|
NM_017838.4(NHP2):c.181C>T (p.Arg61Trp)
|
rs773420072
|
|
NM_017838.4(NHP2):c.186C>G (p.Arg62=)
|
|
|
NM_017838.4(NHP2):c.187G>C (p.Gly63Arg)
|
rs1756326801
|
|
NM_017838.4(NHP2):c.18A>G (p.Ala6=)
|
|
|
NM_017838.4(NHP2):c.196G>A (p.Glu66Lys)
|
|
|
NM_017838.4(NHP2):c.197_198del (p.Glu66fs)
|
rs1333837047
|
|
NM_017838.4(NHP2):c.19G>C (p.Asp7His)
|
rs1581138326
|
|
NM_017838.4(NHP2):c.204G>T (p.Gln68His)
|
|
|
NM_017838.4(NHP2):c.210T>C (p.Phe70=)
|
|
|
NM_017838.4(NHP2):c.213C>G (p.Val71=)
|
rs575702154
|
|
NM_017838.4(NHP2):c.216C>G (p.Asn72Lys)
|
|
|
NM_017838.4(NHP2):c.220G>A (p.Gly74Arg)
|
|
|
NM_017838.4(NHP2):c.228A>C (p.Lys76Asn)
|
rs2113475874
|
|
NM_017838.4(NHP2):c.230+13C>A
|
|
|
NM_017838.4(NHP2):c.230+13C>T
|
rs1561645171
|
|
NM_017838.4(NHP2):c.230+16C>T
|
|
|
NM_017838.4(NHP2):c.230+4dup
|
rs1581137979
|
|
NM_017838.4(NHP2):c.230+8C>A
|
rs764940566
|
|
NM_017838.4(NHP2):c.231-13TC[2]
|
|
|
NM_017838.4(NHP2):c.231-13dup
|
|
|
NM_017838.4(NHP2):c.231-17_231-16del
|
rs572960228
|
|
NM_017838.4(NHP2):c.231-20dup
|
|
|
NM_017838.4(NHP2):c.231-9T>C
|
|
|
NM_017838.4(NHP2):c.231G>C (p.Gly77=)
|
|
|
NM_017838.4(NHP2):c.233T>A (p.Ile78Asn)
|
rs1348885486
|
|
NM_017838.4(NHP2):c.237G>A (p.Met79Ile)
|
rs1561644268
|
|
NM_017838.4(NHP2):c.24C>G (p.Pro8=)
|
|
|
NM_017838.4(NHP2):c.259C>T (p.Pro87Ser)
|
|
|
NM_017838.4(NHP2):c.262A>G (p.Ile88Val)
|
|
|
NM_017838.4(NHP2):c.266A>C (p.Glu89Ala)
|
|
|
NM_017838.4(NHP2):c.267G>A (p.Glu89=)
|
|
|
NM_017838.4(NHP2):c.267_270del (p.Glu89fs)
|
rs754436041
|
|
NM_017838.4(NHP2):c.27C>T (p.Asp9=)
|
rs1178370439
|
|
NM_017838.4(NHP2):c.28G>A (p.Gly10Arg)
|
|
|
NM_017838.4(NHP2):c.2T>G (p.Met1Arg)
|
|
|
NM_017838.4(NHP2):c.314A>G (p.Tyr105Cys)
|
rs772671488
|
|
NM_017838.4(NHP2):c.319T>A (p.Tyr107Asn)
|
|
|
NM_017838.4(NHP2):c.319dup (p.Tyr107fs)
|
|
|
NM_017838.4(NHP2):c.320A>G (p.Tyr107Cys)
|
rs760076146
|
|
NM_017838.4(NHP2):c.324C>T (p.Ile108=)
|
|
|
NM_017838.4(NHP2):c.326C>T (p.Pro109Leu)
|
|
|
NM_017838.4(NHP2):c.336+11C>T
|
|
|
NM_017838.4(NHP2):c.336+18C>T
|
|
|
NM_017838.4(NHP2):c.336+20_336+21del
|
|
|
NM_017838.4(NHP2):c.336+20del
|
rs542745432
|
|
NM_017838.4(NHP2):c.336+2T>C
|
|
|
NM_017838.4(NHP2):c.33C>G (p.Pro11=)
|
|
|
NM_017838.4(NHP2):c.34G>C (p.Glu12Gln)
|
rs1296058145
|
|
NM_017838.4(NHP2):c.355G>A (p.Gly119Ser)
|
|
|
NM_017838.4(NHP2):c.355G>C (p.Gly119Arg)
|
rs750874926
|
|
NM_017838.4(NHP2):c.362A>G (p.Lys121Arg)
|
rs2113463207
|
|
NM_017838.4(NHP2):c.364C>A (p.Arg122Ser)
|
|
|
NM_017838.4(NHP2):c.364C>T (p.Arg122Cys)
|
rs752392516
|
|
NM_017838.4(NHP2):c.365G>A (p.Arg122His)
|
|
|
NM_017838.4(NHP2):c.366C>G (p.Arg122=)
|
rs2113463130
|
|
NM_017838.4(NHP2):c.369dup (p.Thr124fs)
|
|
|
NM_017838.4(NHP2):c.378G>A (p.Val126=)
|
rs1756216301
|
|
NM_017838.4(NHP2):c.383T>C (p.Met128Thr)
|
rs759145032
|
|
NM_017838.4(NHP2):c.391C>A (p.Pro131Thr)
|
|
|
NM_017838.4(NHP2):c.397G>A (p.Glu133Lys)
|
|
|
NM_017838.4(NHP2):c.397GAG[1] (p.Glu134del)
|
rs1756214889
|
|
NM_017838.4(NHP2):c.418G>A (p.Asp140Asn)
|
rs1214412834
|
|
NM_017838.4(NHP2):c.422A>G (p.Glu141Gly)
|
|
|
NM_017838.4(NHP2):c.436G>C (p.Val146Leu)
|
|
|
NM_017838.4(NHP2):c.439C>T (p.Gln147Ter)
|
|
|
NM_017838.4(NHP2):c.447G>A (p.Leu149=)
|
rs754228756
|
|
NM_017838.4(NHP2):c.455C>T (p.Pro152Leu)
|
|
|
NM_017838.4(NHP2):c.456C>A (p.Pro152=)
|
|
|
NM_017838.4(NHP2):c.45G>A (p.Ala15=)
|
|
|
NM_017838.4(NHP2):c.460T>G (p.Ter154Gly)
|
rs121908091
|
|
NM_017838.4(NHP2):c.53G>A (p.Cys18Tyr)
|
rs1373808491
|
|
NM_017838.4(NHP2):c.60G>C (p.Gly20=)
|
|
|
NM_017838.4(NHP2):c.61dup (p.Glu21fs)
|
rs780613876
|
|
NM_017838.4(NHP2):c.68C>T (p.Thr23Ile)
|
rs1341101133
|
|
NM_017838.4(NHP2):c.80T>A (p.Leu27Gln)
|
|
|
NM_022762.5(RMND5B):c.*1817G>A
|
rs1028921372
|
|
NM_022762.5(RMND5B):c.*1821G>A
|
|
|
NM_022762.5(RMND5B):c.*1824G>A
|
|
|
NM_025099.6(CTC1):c.*1052T>G
|
rs201297846
|
|
NM_025099.6(CTC1):c.*1053T>C
|
rs1158073985
|
|
NM_025099.6(CTC1):c.*1102C>T
|
rs3027249
|
|
NM_025099.6(CTC1):c.*1103C>A
|
rs75272219
|
|
NM_025099.6(CTC1):c.*1105G>A
|
rs141632364
|
|
NM_025099.6(CTC1):c.*1107A>G
|
rs573286497
|
|
NM_025099.6(CTC1):c.*1129A>G
|
rs370571497
|
|
NM_025099.6(CTC1):c.*1134G>A
|
rs754222087
|
|
NM_025099.6(CTC1):c.*1148C>A
|
rs534594967
|
|
NM_025099.6(CTC1):c.*1188C>T
|
rs562025086
|
|
NM_025099.6(CTC1):c.*1191T>A
|
rs540304901
|
|
NM_025099.6(CTC1):c.*1191T>C
|
rs540304901
|
|
NM_025099.6(CTC1):c.*1200T>C
|
rs80097010
|
|
NM_025099.6(CTC1):c.*1308T>A
|
rs574820085
|
|
NM_025099.6(CTC1):c.*1420A>T
|
rs533674362
|
|
NM_025099.6(CTC1):c.*1473C>G
|
rs377086928
|
|
NM_025099.6(CTC1):c.*1474G>A
|
rs78517666
|
|
NM_025099.6(CTC1):c.*1474G>C
|
rs78517666
|
|
NM_025099.6(CTC1):c.*1477G>A
|
rs112336268
|
|
NM_025099.6(CTC1):c.*1477G>C
|
rs112336268
|
|
NM_025099.6(CTC1):c.*1477G>T
|
rs112336268
|
|
NM_025099.6(CTC1):c.*1478C>A
|
rs146427367
|
|
NM_025099.6(CTC1):c.*1479C>T
|
rs796651282
|
|
NM_025099.6(CTC1):c.*1517G>A
|
rs998188449
|
|
NM_025099.6(CTC1):c.*1531T>C
|
rs558571255
|
|
NM_025099.6(CTC1):c.*1542C>G
|
rs886053599
|
|
NM_025099.6(CTC1):c.*1569C>T
|
rs138405975
|
|
NM_025099.6(CTC1):c.*1600T>A
|
rs751150794
|
|
NM_025099.6(CTC1):c.*1603T>A
|
rs763671822
|
|
NM_025099.6(CTC1):c.*1792G>A
|
rs886053595
|
|
NM_025099.6(CTC1):c.*1807G>C
|
rs3027251
|
|
NM_025099.6(CTC1):c.*1844G>C
|
rs3027252
|
|
NM_025099.6(CTC1):c.*1856C>T
|
rs145845338
|
|
NM_025099.6(CTC1):c.*1857C>T
|
rs886053594
|
|
NM_025099.6(CTC1):c.*1867G>A
|
rs961793089
|
|
NM_025099.6(CTC1):c.*1868C>A
|
rs535981109
|
|
NM_025099.6(CTC1):c.*1900C>A
|
rs1567590998
|
|
NM_025099.6(CTC1):c.*1913A>G
|
rs1045049738
|
|
NM_025099.6(CTC1):c.*1933C>T
|
rs752512394
|
|
NM_025099.6(CTC1):c.*1960C>G
|
rs11650309
|
|
NM_025099.6(CTC1):c.*2013G>A
|
rs886053590
|
|
NM_025099.6(CTC1):c.*2070G>A
|
rs772156574
|
|
NM_025099.6(CTC1):c.*2090G>A
|
rs1033226989
|
|
NM_025099.6(CTC1):c.*2242G>A
|
rs868833357
|
|
NM_025099.6(CTC1):c.*2425T>C
|
rs1986579685
|
|
NM_025099.6(CTC1):c.*2498G>A
|
rs952734766
|
|
NM_025099.6(CTC1):c.*2536C>T
|
rs1656306673
|
|
NM_025099.6(CTC1):c.*2725T>A
|
rs1986555540
|
|
NM_025099.6(CTC1):c.*274C>T
|
rs533383004
|
|
NM_025099.6(CTC1):c.*275G>A
|
rs3027246
|
|
NM_025099.6(CTC1):c.*2784G>A
|
rs886053587
|
|
NM_025099.6(CTC1):c.*2926G>C
|
rs934312840
|
|
NM_025099.6(CTC1):c.*3198G>T
|
rs568877108
|
|
NM_025099.6(CTC1):c.*3255G>C
|
rs8072663
|
|
NM_025099.6(CTC1):c.*429C>T
|
rs1286225682
|
|
NM_025099.6(CTC1):c.*65C>A
|
rs886053608
|
|
NM_025099.6(CTC1):c.*663G>A
|
rs183099496
|
|
NM_025099.6(CTC1):c.*808G>A
|
rs1986816320
|
|
NM_025099.6(CTC1):c.1003C>T (p.Pro335Ser)
|
|
|
NM_025099.6(CTC1):c.1009C>G (p.Pro337Ala)
|
rs2151523075
|
|
NM_025099.6(CTC1):c.1011C>T (p.Pro337=)
|
|
|
NM_025099.6(CTC1):c.1019C>G (p.Ser340Trp)
|
rs771874794
|
|
NM_025099.6(CTC1):c.1019C>T (p.Ser340Leu)
|
|
|
NM_025099.6(CTC1):c.1026C>G (p.Asp342Glu)
|
rs776408496
|
|
NM_025099.6(CTC1):c.1026C>T (p.Asp342=)
|
|
|
NM_025099.6(CTC1):c.1036C>G (p.Pro346Ala)
|
rs2151522938
|
|
NM_025099.6(CTC1):c.1036C>T (p.Pro346Ser)
|
rs2151522938
|
|
NM_025099.6(CTC1):c.1042del (p.Ser348fs)
|
rs1290803035
|
|
NM_025099.6(CTC1):c.1046T>G (p.Leu349Arg)
|
rs2151522868
|
|
NM_025099.6(CTC1):c.1054T>C (p.Tyr352His)
|
|
|
NM_025099.6(CTC1):c.1059T>C (p.Ser353=)
|
|
|
NM_025099.6(CTC1):c.1064T>C (p.Leu355Pro)
|
|
|
NM_025099.6(CTC1):c.1066C>T (p.Leu356=)
|
rs1244119231
|
|
NM_025099.6(CTC1):c.1070_1074del (p.Ser357fs)
|
rs773120259
|
|
NM_025099.6(CTC1):c.1077+1G>A
|
|
|
NM_025099.6(CTC1):c.1077G>A (p.Ser359=)
|
rs767741611
|
|
NM_025099.6(CTC1):c.1077G>T (p.Ser359=)
|
|
|
NM_025099.6(CTC1):c.1078-4G>A
|
rs375114652
|
|
NM_025099.6(CTC1):c.1078-4G>T
|
rs375114652
|
|
NM_025099.6(CTC1):c.1078-4_1078-3delinsTT
|
rs2151522382
|
|
NM_025099.6(CTC1):c.1078-8G>A
|
|
|
NM_025099.6(CTC1):c.1084G>C (p.Val362Leu)
|
|
|
NM_025099.6(CTC1):c.1085T>A (p.Val362Asp)
|
|
|
NM_025099.6(CTC1):c.108C>T (p.Val36=)
|
rs2151546050
|
|
NM_025099.6(CTC1):c.1093G>A (p.Val365Met)
|
rs753519460
|
|
NM_025099.6(CTC1):c.1108G>C (p.Ala370Pro)
|
|
|
NM_025099.6(CTC1):c.1111G>A (p.Gly371Ser)
|
|
|
NM_025099.6(CTC1):c.1115T>C (p.Leu372Pro)
|
|
|
NM_025099.6(CTC1):c.1118A>G (p.Tyr373Cys)
|
rs2151522187
|
|
NM_025099.6(CTC1):c.1120G>A (p.Glu374Lys)
|
rs1987674659
|
|
NM_025099.6(CTC1):c.1120G>T (p.Glu374Ter)
|
rs1987674659
|
|
NM_025099.6(CTC1):c.1133A>G (p.Gln378Arg)
|
rs1987673814
|
|
NM_025099.6(CTC1):c.1135C>T (p.Leu379=)
|
rs1597385203
|
|
NM_025099.6(CTC1):c.1147del (p.Ala384fs)
|
|
|
NM_025099.6(CTC1):c.1151C>G (p.Ala384Gly)
|
rs748695989
|
|
NM_025099.6(CTC1):c.1151C>T (p.Ala384Val)
|
|
|
NM_025099.6(CTC1):c.1156C>T (p.Gln386Ter)
|
rs1203574273
|
|
NM_025099.6(CTC1):c.1161G>A (p.Gln387=)
|
|
|
NM_025099.6(CTC1):c.1171C>T (p.Leu391Phe)
|
|
|
NM_025099.6(CTC1):c.1185_1186delinsAG (p.Met395_Arg396delinsIleGly)
|
rs1987666643
|
|
NM_025099.6(CTC1):c.1190dup (p.Gly398fs)
|
|
|
NM_025099.6(CTC1):c.1195G>A (p.Val399Met)
|
rs1197080779
|
|
NM_025099.6(CTC1):c.1196T>C (p.Val399Ala)
|
|
|
NM_025099.6(CTC1):c.1197G>A (p.Val399=)
|
|
|
NM_025099.6(CTC1):c.1198T>C (p.Cys400Arg)
|
|
|
NM_025099.6(CTC1):c.119C>T (p.Pro40Leu)
|
|
|
NM_025099.6(CTC1):c.1206+13A>G
|
|
|
NM_025099.6(CTC1):c.1206+16G>A
|
|
|
NM_025099.6(CTC1):c.1206+19G>A
|
|
|
NM_025099.6(CTC1):c.1207-1G>C
|
|
|
NM_025099.6(CTC1):c.1207C>G (p.Leu403Val)
|
|
|
NM_025099.6(CTC1):c.1211A>G (p.Gln404Arg)
|
|
|
NM_025099.6(CTC1):c.1212G>C (p.Gln404His)
|
|
|
NM_025099.6(CTC1):c.1213del (p.Asp405fs)
|
rs1444923772
|
|
NM_025099.6(CTC1):c.122del (p.Leu41fs)
|
|
|
NM_025099.6(CTC1):c.1231T>A (p.Ser411Thr)
|
rs765850921
|
|
NM_025099.6(CTC1):c.1241G>A (p.Gly414Glu)
|
rs62624978
|
|
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala)
|
rs62624978
|
|
NM_025099.6(CTC1):c.1242G>C (p.Gly414=)
|
|
|
NM_025099.6(CTC1):c.1245G>C (p.Gly415=)
|
rs1987612163
|
|
NM_025099.6(CTC1):c.1263C>T (p.Leu421=)
|
rs536218211
|
|
NM_025099.6(CTC1):c.1270T>G (p.Cys424Gly)
|
|
|
NM_025099.6(CTC1):c.1280G>T (p.Gly427Val)
|
rs781203515
|
|
NM_025099.6(CTC1):c.1281C>A (p.Gly427=)
|
rs754774538
|
|
NM_025099.6(CTC1):c.1283C>T (p.Ala428Val)
|
rs2151520028
|
|
NM_025099.6(CTC1):c.1284_1285delinsTT (p.Val429Phe)
|
rs2151520002
|
|
NM_025099.6(CTC1):c.128T>C (p.Ile43Thr)
|
|
|
NM_025099.6(CTC1):c.12C>T (p.Gly4=)
|
|
|
NM_025099.6(CTC1):c.1300T>C (p.Phe434Leu)
|
rs761520320
|
|
NM_025099.6(CTC1):c.1316C>T (p.Pro439Leu)
|
rs2151519873
|
|
NM_025099.6(CTC1):c.1320G>T (p.Gly440=)
|
rs2151519856
|
|
NM_025099.6(CTC1):c.1328C>T (p.Ser443Leu)
|
|
|
NM_025099.6(CTC1):c.1331C>T (p.Ser444Phe)
|
rs1987600358
|
|
NM_025099.6(CTC1):c.1332C>A (p.Ser444=)
|
|
|
NM_025099.6(CTC1):c.1332C>G (p.Ser444=)
|
rs1987600121
|
|
NM_025099.6(CTC1):c.1334G>A (p.Arg445His)
|
rs768361173
|
|
NM_025099.6(CTC1):c.1339G>A (p.Ala447Thr)
|
rs1223603855
|
|
NM_025099.6(CTC1):c.1348G>A (p.Ala450Thr)
|
rs778433916
|
|
NM_025099.6(CTC1):c.1353C>G (p.Ser451=)
|
|
|
NM_025099.6(CTC1):c.1354C>T (p.Leu452=)
|
rs1987595222
|
|
NM_025099.6(CTC1):c.1371G>T (p.Val457=)
|
rs2151519516
|
|
NM_025099.6(CTC1):c.1375G>C (p.Glu459Gln)
|
|
|
NM_025099.6(CTC1):c.1383G>T (p.Gln461His)
|
rs145192682
|
|
NM_025099.6(CTC1):c.1397T>A (p.Leu466His)
|
|
|
NM_025099.6(CTC1):c.13C>G (p.Arg5Gly)
|
rs201280372
|
|
NM_025099.6(CTC1):c.1400A>G (p.Tyr467Cys)
|
rs1987589226
|
|
NM_025099.6(CTC1):c.1404G>A (p.Leu468=)
|
rs1987588693
|
|
NM_025099.6(CTC1):c.1410T>C (p.Ala470=)
|
|
|
NM_025099.6(CTC1):c.1439+17C>T
|
rs1467120986
|
|
NM_025099.6(CTC1):c.1439+7A>G
|
rs1987585756
|
|
NM_025099.6(CTC1):c.1439+7_1439+9del
|
rs1391648072
|
|
NM_025099.6(CTC1):c.1439+8G>A
|
|
|
NM_025099.6(CTC1):c.1439+9G>C
|
|
|
NM_025099.6(CTC1):c.1439A>G (p.Lys480Arg)
|
|
|
NM_025099.6(CTC1):c.1440-20_1440-19del
|
rs1332067370
|
|
NM_025099.6(CTC1):c.1440-5C>T
|
rs1987573771
|
|
NM_025099.6(CTC1):c.1440G>T (p.Lys480Asn)
|
rs770798986
|
|
NM_025099.6(CTC1):c.1461A>G (p.Arg487=)
|
|
|
NM_025099.6(CTC1):c.1466A>C (p.His489Pro)
|
|
|
NM_025099.6(CTC1):c.146_149del (p.Val49fs)
|
|
|
NM_025099.6(CTC1):c.147C>G (p.Val49=)
|
|
|
NM_025099.6(CTC1):c.1480C>T (p.His494Tyr)
|
|
|
NM_025099.6(CTC1):c.1494G>A (p.Gly498=)
|
rs750860792
|
|
NM_025099.6(CTC1):c.1496G>A (p.Ser499Asn)
|
|
|
NM_025099.6(CTC1):c.1498C>G (p.Pro500Ala)
|
rs1359625369
|
|
NM_025099.6(CTC1):c.149_150delinsTT (p.Trp50Phe)
|
|
|
NM_025099.6(CTC1):c.14G>A (p.Arg5Gln)
|
rs1449419140
|
|
NM_025099.6(CTC1):c.1504C>T (p.Leu502=)
|
|
|
NM_025099.6(CTC1):c.1509A>G (p.Gly503=)
|
rs2151518608
|
|
NM_025099.6(CTC1):c.1539T>C (p.Leu513=)
|
rs2151518499
|
|
NM_025099.6(CTC1):c.1548G>T (p.Pro516=)
|
|
|
NM_025099.6(CTC1):c.1554C>T (p.Gly518=)
|
|
|
NM_025099.6(CTC1):c.1557C>T (p.Ser519=)
|
|
|
NM_025099.6(CTC1):c.1564C>A (p.Arg522=)
|
rs199698527
|
|
NM_025099.6(CTC1):c.1564C>G (p.Arg522Gly)
|
rs199698527
|
|
NM_025099.6(CTC1):c.1566G>C (p.Arg522=)
|
|
|
NM_025099.6(CTC1):c.1576A>G (p.Asn526Asp)
|
rs2151518271
|
|
NM_025099.6(CTC1):c.1583del (p.Ile528fs)
|
|
|
NM_025099.6(CTC1):c.1585C>T (p.Leu529Phe)
|
rs201560353
|
|
NM_025099.6(CTC1):c.1588G>A (p.Glu530Lys)
|
|
|
NM_025099.6(CTC1):c.1593G>A (p.Glu531=)
|
rs1407136775
|
|
NM_025099.6(CTC1):c.1597C>G (p.His533Asp)
|
rs1302748336
|
|
NM_025099.6(CTC1):c.1597C>T (p.His533Tyr)
|
|
|
NM_025099.6(CTC1):c.15G>C (p.Arg5=)
|
rs1252023203
|
|
NM_025099.6(CTC1):c.1602C>A (p.His534Gln)
|
rs1421770599
|
|
NM_025099.6(CTC1):c.1611C>T (p.Leu537=)
|
|
|
NM_025099.6(CTC1):c.1617+13G>A
|
|
|
NM_025099.6(CTC1):c.1617+13G>T
|
|
|
NM_025099.6(CTC1):c.1617+1G>T
|
rs1201400384
|
|
NM_025099.6(CTC1):c.1617+5G>A
|
|
|
NM_025099.6(CTC1):c.1617+5G>T
|
|
|
NM_025099.6(CTC1):c.1617+7G>C
|
|
|
NM_025099.6(CTC1):c.1617A>G (p.Lys539=)
|
|
|
NM_025099.6(CTC1):c.1618-16C>T
|
|
|
NM_025099.6(CTC1):c.1618-8C>T
|
rs2151517816
|
|
NM_025099.6(CTC1):c.1618-9C>T
|
rs2151517821
|
|
NM_025099.6(CTC1):c.1623_1624del (p.Arg542fs)
|
|
|
NM_025099.6(CTC1):c.1625G>C (p.Arg542Pro)
|
|
|
NM_025099.6(CTC1):c.1626G>A (p.Arg542=)
|
|
|
NM_025099.6(CTC1):c.1632G>T (p.Gln544His)
|
|
|
NM_025099.6(CTC1):c.1638C>T (p.Pro546=)
|
rs2151517678
|
|
NM_025099.6(CTC1):c.164G>A (p.Arg55Lys)
|
rs2151545851
|
|
NM_025099.6(CTC1):c.165G>A (p.Arg55=)
|
rs2151545845
|
|
NM_025099.6(CTC1):c.1667AAG[2] (p.Glu558del)
|
rs756079894
|
|
NM_025099.6(CTC1):c.1668_1671del (p.Glu557fs)
|
rs1237260493
|
|
NM_025099.6(CTC1):c.1669G>A (p.Glu557Lys)
|
rs1987533999
|
|
NM_025099.6(CTC1):c.166A>C (p.Asn56His)
|
|
|
NM_025099.6(CTC1):c.1679A>G (p.Gln560Arg)
|
|
|
NM_025099.6(CTC1):c.1681C>A (p.Arg561Ser)
|
rs202212634
|
|
NM_025099.6(CTC1):c.1682G>C (p.Arg561Pro)
|
rs373690929
|
|
NM_025099.6(CTC1):c.1683T>G (p.Arg561=)
|
rs1285328109
|
|
NM_025099.6(CTC1):c.1688C>T (p.Ala563Val)
|
|
|
NM_025099.6(CTC1):c.1693G>A (p.Ala565Thr)
|
rs2151517418
|
|
NM_025099.6(CTC1):c.1697C>T (p.Ser566Phe)
|
|
|
NM_025099.6(CTC1):c.16G>A (p.Ala6Thr)
|
|
|
NM_025099.6(CTC1):c.16G>T (p.Ala6Ser)
|
|
|
NM_025099.6(CTC1):c.1700T>C (p.Phe567Ser)
|
rs2151517400
|
|
NM_025099.6(CTC1):c.1704C>T (p.Asp568=)
|
|
|
NM_025099.6(CTC1):c.1706C>T (p.Pro569Leu)
|
|
|
NM_025099.6(CTC1):c.170A>G (p.Gln57Arg)
|
rs371868360
|
|
NM_025099.6(CTC1):c.1719G>C (p.Leu573=)
|
rs1282827614
|
|
NM_025099.6(CTC1):c.1721C>T (p.Pro574Leu)
|
rs926565387
|
|
NM_025099.6(CTC1):c.1725C>G (p.Leu575=)
|
|
|
NM_025099.6(CTC1):c.1728G>T (p.Pro576=)
|
rs78320653
|
|
NM_025099.6(CTC1):c.1730A>G (p.Glu577Gly)
|
|
|
NM_025099.6(CTC1):c.1733C>T (p.Ala578Val)
|
|
|
NM_025099.6(CTC1):c.173G>A (p.Gly58Asp)
|
rs1988400898
|
|
NM_025099.6(CTC1):c.1746del (p.Ser583fs)
|
|
|
NM_025099.6(CTC1):c.1764C>T (p.Arg588=)
|
|
|
NM_025099.6(CTC1):c.1766G>A (p.Arg589His)
|
rs771224545
|
|
NM_025099.6(CTC1):c.1766G>T (p.Arg589Leu)
|
|
|
NM_025099.6(CTC1):c.1774_1784dup (p.Cys596fs)
|
|
|
NM_025099.6(CTC1):c.1778C>T (p.Ser593Phe)
|
rs767152748
|
|
NM_025099.6(CTC1):c.1782G>T (p.Trp594Cys)
|
rs2151517027
|
|
NM_025099.6(CTC1):c.1785_1786del (p.Cys596fs)
|
|
|
NM_025099.6(CTC1):c.1787G>C (p.Cys596Ser)
|
|
|
NM_025099.6(CTC1):c.1788_1791del (p.Leu597fs)
|
|
|
NM_025099.6(CTC1):c.1789C>T (p.Leu597=)
|
|
|
NM_025099.6(CTC1):c.1797C>T (p.Pro599=)
|
rs2151516939
|
|
NM_025099.6(CTC1):c.180A>G (p.Thr60=)
|
|
|
NM_025099.6(CTC1):c.1812A>G (p.Pro604=)
|
|
|
NM_025099.6(CTC1):c.1814_1818del (p.Ala605fs)
|
|
|
NM_025099.6(CTC1):c.1815C>T (p.Ala605=)
|
|
|
NM_025099.6(CTC1):c.1818+17C>T
|
|
|
NM_025099.6(CTC1):c.1818+4A>G
|
|
|
NM_025099.6(CTC1):c.1819-12A>T
|
|
|
NM_025099.6(CTC1):c.1819-17C>T
|
|
|
NM_025099.6(CTC1):c.1819-19A>C
|
|
|
NM_025099.6(CTC1):c.1819-21_1819-17del
|
rs2151513134
|
|
NM_025099.6(CTC1):c.1819-4G>T
|
|
|
NM_025099.6(CTC1):c.181C>T (p.Leu61=)
|
rs1439520622
|
|
NM_025099.6(CTC1):c.1825C>G (p.Leu609Val)
|
|
|
NM_025099.6(CTC1):c.1838T>C (p.Val613Ala)
|
|
|
NM_025099.6(CTC1):c.1845A>G (p.Ser615=)
|
|
|
NM_025099.6(CTC1):c.1850A>T (p.His617Leu)
|
|
|
NM_025099.6(CTC1):c.1856G>T (p.Gly619Val)
|
rs1987375790
|
|
NM_025099.6(CTC1):c.1857T>C (p.Gly619=)
|
rs2151512859
|
|
NM_025099.6(CTC1):c.1859G>A (p.Cys620Tyr)
|
rs766985115
|
|
NM_025099.6(CTC1):c.1859G>T (p.Cys620Phe)
|
|
|
NM_025099.6(CTC1):c.1874A>G (p.Asp625Gly)
|
|
|
NM_025099.6(CTC1):c.1890G>A (p.Leu630=)
|
rs765952322
|
|
NM_025099.6(CTC1):c.1890G>C (p.Leu630=)
|
|
|
NM_025099.6(CTC1):c.18C>G (p.Ala6=)
|
rs377706974
|
|
NM_025099.6(CTC1):c.1918C>T (p.Gln640Ter)
|
rs2151512520
|
|
NM_025099.6(CTC1):c.1919A>C (p.Gln640Pro)
|
rs1987370776
|
|
NM_025099.6(CTC1):c.191G>A (p.Ser64Asn)
|
|
|
NM_025099.6(CTC1):c.1923C>T (p.Pro641=)
|
rs1432613856
|
|
NM_025099.6(CTC1):c.1926C>T (p.Leu642=)
|
|
|
NM_025099.6(CTC1):c.1927A>T (p.Ser643Cys)
|
|
|
NM_025099.6(CTC1):c.1934dup (p.Arg646fs)
|
|
|
NM_025099.6(CTC1):c.1938G>A (p.Arg646=)
|
|
|
NM_025099.6(CTC1):c.1940T>A (p.Leu647Gln)
|
rs1342587450
|
|
NM_025099.6(CTC1):c.1942A>C (p.Ile648Leu)
|
|
|
NM_025099.6(CTC1):c.1945+10del
|
|
|
NM_025099.6(CTC1):c.1945+19G>A
|
rs2151512377
|
|
NM_025099.6(CTC1):c.1946-11T>C
|
rs372245030
|
|
NM_025099.6(CTC1):c.1946-11T>G
|
|
|
NM_025099.6(CTC1):c.1946-13T>C
|
|
|
NM_025099.6(CTC1):c.1946-17A>G
|
|
|
NM_025099.6(CTC1):c.1946-4C>T
|
|
|
NM_025099.6(CTC1):c.1954G>A (p.Val652Met)
|
|
|
NM_025099.6(CTC1):c.1954G>C (p.Val652Leu)
|
|
|
NM_025099.6(CTC1):c.1956G>A (p.Val652=)
|
rs2151511215
|
|
NM_025099.6(CTC1):c.1960G>A (p.Ala654Thr)
|
|
|
NM_025099.6(CTC1):c.197+18T>C
|
|
|
NM_025099.6(CTC1):c.197+8G>A
|
|
|
NM_025099.6(CTC1):c.198-12T>G
|
rs2151532365
|
|
NM_025099.6(CTC1):c.198-15C>G
|
|
|
NM_025099.6(CTC1):c.198-17T>C
|
|
|
NM_025099.6(CTC1):c.198-20C>G
|
|
|
NM_025099.6(CTC1):c.198-4A>G
|
rs1597389646
|
|
NM_025099.6(CTC1):c.1984G>C (p.Glu662Gln)
|
rs1341299177
|
|
NM_025099.6(CTC1):c.1989G>A (p.Arg663=)
|
|
|
NM_025099.6(CTC1):c.1992C>T (p.Asp664=)
|
rs755004377
|
|
NM_025099.6(CTC1):c.1998A>C (p.Arg666Ser)
|
rs757849997
|
|
NM_025099.6(CTC1):c.1A>C (p.Met1Leu)
|
rs779499831
|
|
NM_025099.6(CTC1):c.1A>G (p.Met1Val)
|
|
|
NM_025099.6(CTC1):c.1A>T (p.Met1Leu)
|
|
|
NM_025099.6(CTC1):c.2013C>G (p.Ser671=)
|
|
|
NM_025099.6(CTC1):c.2019G>A (p.Lys673=)
|
rs2151510979
|
|
NM_025099.6(CTC1):c.201C>T (p.Phe67=)
|
rs552540195
|
|
NM_025099.6(CTC1):c.2027G>A (p.Ser676Asn)
|
|
|
NM_025099.6(CTC1):c.2029A>G (p.Met677Val)
|
rs1987321255
|
|
NM_025099.6(CTC1):c.2037C>T (p.Gly679=)
|
rs2151510889
|
|
NM_025099.6(CTC1):c.2038T>G (p.Phe680Val)
|
rs2151510882
|
|
NM_025099.6(CTC1):c.2044C>G (p.Gln682Glu)
|
|
|
NM_025099.6(CTC1):c.2045A>G (p.Gln682Arg)
|
|
|
NM_025099.6(CTC1):c.2050C>G (p.Gln684Glu)
|
|
|
NM_025099.6(CTC1):c.2055G>C (p.Gln685His)
|
|
|
NM_025099.6(CTC1):c.2056G>A (p.Ala686Thr)
|
|
|
NM_025099.6(CTC1):c.2058C>A (p.Ala686=)
|
|
|
NM_025099.6(CTC1):c.2060+12G>A
|
rs1987317835
|
|
NM_025099.6(CTC1):c.2060+13G>C
|
|
|
NM_025099.6(CTC1):c.2060+18A>G
|
|
|
NM_025099.6(CTC1):c.2060+5G>A
|
|
|
NM_025099.6(CTC1):c.2060+6_2060+13del
|
rs2151510765
|
|
NM_025099.6(CTC1):c.2060+9C>A
|
rs2151510790
|
|
NM_025099.6(CTC1):c.2061-12C>G
|
|
|
NM_025099.6(CTC1):c.2061-14G>T
|
rs774632748
|
|
NM_025099.6(CTC1):c.2061-20T>G
|
|
|
NM_025099.6(CTC1):c.2066A>G (p.Tyr689Cys)
|
|
|
NM_025099.6(CTC1):c.2071C>T (p.Gln691Ter)
|
|
|
NM_025099.6(CTC1):c.2076C>G (p.Phe692Leu)
|
rs369717598
|
|
NM_025099.6(CTC1):c.2097C>T (p.Ile699=)
|
|
|
NM_025099.6(CTC1):c.210A>G (p.Val70=)
|
|
|
NM_025099.6(CTC1):c.2113C>G (p.Pro705Ala)
|
|
|
NM_025099.6(CTC1):c.2124T>G (p.His708Gln)
|
|
|
NM_025099.6(CTC1):c.2126C>G (p.Ser709Ter)
|
rs1201426650
|
|
NM_025099.6(CTC1):c.2136C>T (p.Pro712=)
|
|
|
NM_025099.6(CTC1):c.2140A>C (p.Thr714Pro)
|
rs1987295113
|
|
NM_025099.6(CTC1):c.2147A>G (p.Gln716Arg)
|
|
|
NM_025099.6(CTC1):c.2152G>C (p.Asp718His)
|
rs1458344790
|
|
NM_025099.6(CTC1):c.2161G>A (p.Gly721Ser)
|
rs771821232
|
|
NM_025099.6(CTC1):c.2164C>T (p.Pro722Ser)
|
rs770505786
|
|
NM_025099.6(CTC1):c.2166A>G (p.Pro722=)
|
rs2151509876
|
|
NM_025099.6(CTC1):c.2178C>T (p.His726=)
|
rs201146538
|
|
NM_025099.6(CTC1):c.2202G>C (p.Leu734Phe)
|
|
|
NM_025099.6(CTC1):c.2210A>G (p.His737Arg)
|
rs537646611
|
|
NM_025099.6(CTC1):c.222G>C (p.Lys74Asn)
|
|
|
NM_025099.6(CTC1):c.2235T>C (p.Asn745=)
|
rs2151509581
|
|
NM_025099.6(CTC1):c.2242G>T (p.Val748Phe)
|
|
|
NM_025099.6(CTC1):c.2244C>G (p.Val748=)
|
rs758516017
|
|
NM_025099.6(CTC1):c.2247C>G (p.Pro749=)
|
|
|
NM_025099.6(CTC1):c.2247C>T (p.Pro749=)
|
|
|
NM_025099.6(CTC1):c.2253A>G (p.Gly751=)
|
rs1164794062
|
|
NM_025099.6(CTC1):c.2258G>A (p.Ser753Asn)
|
rs1987279014
|
|
NM_025099.6(CTC1):c.225T>C (p.Thr75=)
|
rs761598220
|
|
NM_025099.6(CTC1):c.2268G>T (p.Val756=)
|
|
|
NM_025099.6(CTC1):c.226C>A (p.His76Asn)
|
|
|
NM_025099.6(CTC1):c.2276C>T (p.Pro759Leu)
|
rs2151509364
|
|
NM_025099.6(CTC1):c.228C>A (p.His76Gln)
|
rs531109382
|
|
NM_025099.6(CTC1):c.228C>T (p.His76=)
|
rs531109382
|
|
NM_025099.6(CTC1):c.2291_2292del (p.Tyr764fs)
|
rs2151509277
|
|
NM_025099.6(CTC1):c.2294T>C (p.Val765Ala)
|
rs2151509260
|
|
NM_025099.6(CTC1):c.22G>C (p.Val8Leu)
|
rs1233799443
|
|
NM_025099.6(CTC1):c.2305T>C (p.Trp769Arg)
|
|
|
NM_025099.6(CTC1):c.2322G>A (p.Gln774=)
|
|
|
NM_025099.6(CTC1):c.2322del (p.Arg775fs)
|
|
|
NM_025099.6(CTC1):c.2327A>G (p.Lys776Arg)
|
|
|
NM_025099.6(CTC1):c.2337T>C (p.Thr779=)
|
rs1567603423
|
|
NM_025099.6(CTC1):c.2346G>T (p.Gly782=)
|
|
|
NM_025099.6(CTC1):c.2350C>T (p.Pro784Ser)
|
|
|
NM_025099.6(CTC1):c.2375A>G (p.Asn792Ser)
|
rs1245008176
|
|
NM_025099.6(CTC1):c.2379T>A (p.Asp793Glu)
|
|
|
NM_025099.6(CTC1):c.237C>G (p.Leu79=)
|
rs2151532137
|
|
NM_025099.6(CTC1):c.237C>T (p.Leu79=)
|
|
|
NM_025099.6(CTC1):c.2383A>G (p.Lys795Glu)
|
|
|
NM_025099.6(CTC1):c.2385+1G>C
|
rs2151508864
|
|
NM_025099.6(CTC1):c.2386-16C>T
|
|
|
NM_025099.6(CTC1):c.2386-16del
|
|
|
NM_025099.6(CTC1):c.2386-18T>G
|
|
|
NM_025099.6(CTC1):c.2386-20T>A
|
rs374816662
|
|
NM_025099.6(CTC1):c.2386-20T>C
|
rs374816662
|
|
NM_025099.6(CTC1):c.2386-5C>T
|
rs757334155
|
|
NM_025099.6(CTC1):c.2391C>T (p.His797=)
|
|
|
NM_025099.6(CTC1):c.2394C>G (p.Leu798=)
|
|
|
NM_025099.6(CTC1):c.2395A>G (p.Ile799Val)
|
rs2151508501
|
|
NM_025099.6(CTC1):c.2399T>C (p.Phe800Ser)
|
rs752957819
|
|
NM_025099.6(CTC1):c.2409T>C (p.Ser803=)
|
rs1987252367
|
|
NM_025099.6(CTC1):c.2418C>T (p.Arg806=)
|
|
|
NM_025099.6(CTC1):c.2436C>G (p.His812Gln)
|
|
|
NM_025099.6(CTC1):c.244T>C (p.Cys82Arg)
|
rs1987946472
|
|
NM_025099.6(CTC1):c.2453G>T (p.Arg818Leu)
|
rs772328631
|
|
NM_025099.6(CTC1):c.2459T>C (p.Ile820Thr)
|
|
|
NM_025099.6(CTC1):c.2466T>C (p.Pro822=)
|
rs2151508201
|
|
NM_025099.6(CTC1):c.2471C>T (p.Pro824Leu)
|
|
|
NM_025099.6(CTC1):c.2472C>G (p.Pro824=)
|
rs558802130
|
|
NM_025099.6(CTC1):c.2472del (p.Ala825fs)
|
|
|
NM_025099.6(CTC1):c.2473G>A (p.Ala825Thr)
|
rs915406565
|
|
NM_025099.6(CTC1):c.2473G>C (p.Ala825Pro)
|
|
|
NM_025099.6(CTC1):c.2475+20A>G
|
|
|
NM_025099.6(CTC1):c.2475+3G>A
|
rs1987244042
|
|
NM_025099.6(CTC1):c.2475+9C>A
|
rs781404123
|
|
NM_025099.6(CTC1):c.2475+9C>G
|
|
|
NM_025099.6(CTC1):c.2475+9C>T
|
rs781404123
|
|
NM_025099.6(CTC1):c.248G>A (p.Ser83Asn)
|
rs78870822
|
|
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr)
|
rs78870822
|
|
NM_025099.6(CTC1):c.248_251dup (p.His84fs)
|
rs745467709
|
|
NM_025099.6(CTC1):c.2497G>A (p.Asp833Asn)
|
rs754510180
|
|
NM_025099.6(CTC1):c.2497G>T (p.Asp833Tyr)
|
|
|
NM_025099.6(CTC1):c.24C>A (p.Val8=)
|
rs749818659
|
|
NM_025099.6(CTC1):c.2505A>G (p.Ser835=)
|
|
|
NM_025099.6(CTC1):c.2507C>G (p.Ser836Cys)
|
rs1987214622
|
|
NM_025099.6(CTC1):c.2508C>T (p.Ser836=)
|
|
|
NM_025099.6(CTC1):c.2510G>A (p.Cys837Tyr)
|
rs377390001
|
|
NM_025099.6(CTC1):c.2512A>G (p.Ile838Val)
|
|
|
NM_025099.6(CTC1):c.2519G>A (p.Arg840Gln)
|
|
|
NM_025099.6(CTC1):c.2521C>T (p.Arg841Cys)
|
rs747249710
|
|
NM_025099.6(CTC1):c.2524C>T (p.Pro842Ser)
|
rs1354260622
|
|
NM_025099.6(CTC1):c.2525C>G (p.Pro842Arg)
|
|
|
NM_025099.6(CTC1):c.2537C>T (p.Ala846Val)
|
|
|
NM_025099.6(CTC1):c.2538T>C (p.Ala846=)
|
|
|
NM_025099.6(CTC1):c.2546C>T (p.Ala849Val)
|
rs1987209622
|
|
NM_025099.6(CTC1):c.2547A>G (p.Ala849=)
|
|
|
NM_025099.6(CTC1):c.2561_2573del (p.Val854fs)
|
rs1987208048
|
|
NM_025099.6(CTC1):c.2570A>G (p.Asn857Ser)
|
|
|
NM_025099.6(CTC1):c.2586T>G (p.Leu862=)
|
rs2151506876
|
|
NM_025099.6(CTC1):c.258G>C (p.Ser86=)
|
rs369789111
|
|
NM_025099.6(CTC1):c.258G>T (p.Ser86=)
|
rs369789111
|
|
NM_025099.6(CTC1):c.2602A>G (p.Ile868Val)
|
rs1555532937
|
|
NM_025099.6(CTC1):c.2605C>T (p.Gln869Ter)
|
|
|
NM_025099.6(CTC1):c.2610T>C (p.Asp870=)
|
|
|
NM_025099.6(CTC1):c.2613G>A (p.Val871=)
|
|
|
NM_025099.6(CTC1):c.2619T>C (p.Asp873=)
|
rs2151506753
|
|
NM_025099.6(CTC1):c.2627A>T (p.Lys876Met)
|
|
|
NM_025099.6(CTC1):c.2631A>G (p.Ser877=)
|
rs1335870783
|
|
NM_025099.6(CTC1):c.263G>A (p.Ser88Asn)
|
rs1987944023
|
|
NM_025099.6(CTC1):c.2651C>T (p.Thr884Ile)
|
|
|
NM_025099.6(CTC1):c.2653G>T (p.Asp885Tyr)
|
rs370102181
|
|
NM_025099.6(CTC1):c.2668A>G (p.Asn890Asp)
|
|
|
NM_025099.6(CTC1):c.2669+13C>G
|
|
|
NM_025099.6(CTC1):c.2669+17C>A
|
|
|
NM_025099.6(CTC1):c.2669+18C>T
|
rs769461004
|
|
NM_025099.6(CTC1):c.2670-12C>G
|
rs1987142319
|
|
NM_025099.6(CTC1):c.2670-3C>G
|
rs765650487
|
|
NM_025099.6(CTC1):c.2670-3C>T
|
rs765650487
|
|
NM_025099.6(CTC1):c.2678A>G (p.Asp893Gly)
|
|
|
NM_025099.6(CTC1):c.2681C>A (p.Ser894Tyr)
|
rs754401174
|
|
NM_025099.6(CTC1):c.2699C>T (p.Ala900Val)
|
rs1408453833
|
|
NM_025099.6(CTC1):c.269G>A (p.Ser90Asn)
|
|
|
NM_025099.6(CTC1):c.26C>A (p.Pro9His)
|
rs377386669
|
|
NM_025099.6(CTC1):c.26C>T (p.Pro9Leu)
|
rs377386669
|
|
NM_025099.6(CTC1):c.2704A>G (p.Ile902Val)
|
rs2151504713
|
|
NM_025099.6(CTC1):c.2714G>A (p.Arg905Gln)
|
|
|
NM_025099.6(CTC1):c.2718A>G (p.Thr906=)
|
|
|
NM_025099.6(CTC1):c.2719C>T (p.Leu907=)
|
|
|
NM_025099.6(CTC1):c.2721A>G (p.Leu907=)
|
rs776568637
|
|
NM_025099.6(CTC1):c.2727A>C (p.Glu909Asp)
|
|
|
NM_025099.6(CTC1):c.2738C>T (p.Ala913Val)
|
rs771428933
|
|
NM_025099.6(CTC1):c.273A>G (p.Ala91=)
|
|
|
NM_025099.6(CTC1):c.2742T>C (p.Ser914=)
|
rs1248489024
|
|
NM_025099.6(CTC1):c.2743C>T (p.Leu915Phe)
|
rs778391511
|
|
NM_025099.6(CTC1):c.2749A>G (p.Met917Val)
|
|
|
NM_025099.6(CTC1):c.2750T>G (p.Met917Arg)
|
rs1987130951
|
|
NM_025099.6(CTC1):c.2758+11T>C
|
|
|
NM_025099.6(CTC1):c.2758+4A>G
|
rs754205135
|
|
NM_025099.6(CTC1):c.2758+7A>T
|
rs2151504452
|
|
NM_025099.6(CTC1):c.2759-12T>C
|
|
|
NM_025099.6(CTC1):c.2759-20C>T
|
|
|
NM_025099.6(CTC1):c.2759-4A>G
|
rs374727205
|
|
NM_025099.6(CTC1):c.2759-4A>T
|
rs374727205
|
|
NM_025099.6(CTC1):c.2759-7T>G
|
|
|
NM_025099.6(CTC1):c.2763C>G (p.Asn921Lys)
|
|
|
NM_025099.6(CTC1):c.2770dup (p.Ala924fs)
|
|
|
NM_025099.6(CTC1):c.2775G>T (p.Met925Ile)
|
rs2151504059
|
|
NM_025099.6(CTC1):c.2777G>A (p.Arg926Lys)
|
|
|
NM_025099.6(CTC1):c.2783G>A (p.Cys928Tyr)
|
rs373660155
|
|
NM_025099.6(CTC1):c.278A>G (p.Gln93Arg)
|
|
|
NM_025099.6(CTC1):c.2799C>T (p.Val933=)
|
|
|
NM_025099.6(CTC1):c.27T>A (p.Pro9=)
|
|
|
NM_025099.6(CTC1):c.27T>C (p.Pro9=)
|
rs2151564261
|
|
NM_025099.6(CTC1):c.2802T>C (p.Ala934=)
|
|
|
NM_025099.6(CTC1):c.2809A>T (p.Thr937Ser)
|
rs1370736551
|
|
NM_025099.6(CTC1):c.2811T>G (p.Thr937=)
|
|
|
NM_025099.6(CTC1):c.2819G>A (p.Cys940Tyr)
|
|
|
NM_025099.6(CTC1):c.2826C>T (p.Phe942=)
|
|
|
NM_025099.6(CTC1):c.2830C>T (p.Pro944Ser)
|
rs1299588337
|
|
NM_025099.6(CTC1):c.2831C>T (p.Pro944Leu)
|
rs1987110819
|
|
NM_025099.6(CTC1):c.2831del (p.Pro944fs)
|
rs199473677
|
|
NM_025099.6(CTC1):c.2831dup (p.His945fs)
|
rs199473677
|
|
NM_025099.6(CTC1):c.2835C>A (p.His945Gln)
|
|
|
NM_025099.6(CTC1):c.2847T>C (p.Tyr949=)
|
|
|
NM_025099.6(CTC1):c.2865G>T (p.Leu955Phe)
|
|
|
NM_025099.6(CTC1):c.2866C>T (p.Pro956Ser)
|
rs1987108095
|
|
NM_025099.6(CTC1):c.2867C>T (p.Pro956Leu)
|
rs1345126351
|
|
NM_025099.6(CTC1):c.286G>A (p.Ala96Thr)
|
rs751570124
|
|
NM_025099.6(CTC1):c.2880A>G (p.Gly960=)
|
|
|
NM_025099.6(CTC1):c.2880dup (p.Leu961fs)
|
rs2151503544
|
|
NM_025099.6(CTC1):c.2881C>G (p.Leu961Val)
|
rs1567600596
|
|
NM_025099.6(CTC1):c.2882T>C (p.Leu961Pro)
|
|
|
NM_025099.6(CTC1):c.2888C>G (p.Pro963Arg)
|
|
|
NM_025099.6(CTC1):c.2888del (p.Pro963fs)
|
rs1987105095
|
|
NM_025099.6(CTC1):c.2893G>A (p.Ala965Thr)
|
rs1987104593
|
|
NM_025099.6(CTC1):c.2894C>T (p.Ala965Val)
|
rs1987104355
|
|
NM_025099.6(CTC1):c.2897G>C (p.Arg966Pro)
|
rs759485791
|
|
NM_025099.6(CTC1):c.2908A>G (p.Ser970Gly)
|
|
|
NM_025099.6(CTC1):c.2910C>T (p.Ser970=)
|
|
|
NM_025099.6(CTC1):c.2917G>A (p.Glu973Lys)
|
|
|
NM_025099.6(CTC1):c.2933+18C>T
|
|
|
NM_025099.6(CTC1):c.2933+3G>A
|
rs878855127
|
|
NM_025099.6(CTC1):c.2933+8T>C
|
rs1160513274
|
|
NM_025099.6(CTC1):c.2933+9G>A
|
|
|
NM_025099.6(CTC1):c.2934-3C>G
|
|
|
NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del)
|
rs199473679
|
|
NM_025099.6(CTC1):c.295G>C (p.Ala99Pro)
|
rs2151531876
|
|
NM_025099.6(CTC1):c.2973T>G (p.Tyr991Ter)
|
rs62637613
|
|
NM_025099.6(CTC1):c.2978_2981dup (p.Leu995fs)
|
rs2151502269
|
|
NM_025099.6(CTC1):c.29C>G (p.Ser10Cys)
|
rs745686555
|
|
NM_025099.6(CTC1):c.29C>T (p.Ser10Phe)
|
rs745686555
|
|
NM_025099.6(CTC1):c.2T>A (p.Met1Lys)
|
rs1299853886
|
|
NM_025099.6(CTC1):c.2T>C (p.Met1Thr)
|
rs1299853886
|
|
NM_025099.6(CTC1):c.3004A>G (p.Thr1002Ala)
|
rs1987062062
|
|
NM_025099.6(CTC1):c.3011+19A>G
|
|
|
NM_025099.6(CTC1):c.3011+3C>T
|
rs1316252024
|
|
NM_025099.6(CTC1):c.3012-12G>C
|
|
|
NM_025099.6(CTC1):c.3012-18C>T
|
|
|
NM_025099.6(CTC1):c.3012-20_3012-19del
|
rs372844070
|
|
NM_025099.6(CTC1):c.3012-3T>C
|
|
|
NM_025099.6(CTC1):c.3012-5_3012-2del
|
rs2151500920
|
|
NM_025099.6(CTC1):c.3012-7T>C
|
|
|
NM_025099.6(CTC1):c.3013A>T (p.Ile1005Phe)
|
|
|
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
|
|
|
NM_025099.6(CTC1):c.3023C>G (p.Pro1008Arg)
|
|
|
NM_025099.6(CTC1):c.3024C>G (p.Pro1008=)
|
rs1987021468
|
|
NM_025099.6(CTC1):c.3024C>T (p.Pro1008=)
|
|
|
NM_025099.6(CTC1):c.3028A>C (p.Ile1010Leu)
|
|
|
NM_025099.6(CTC1):c.3031T>C (p.Tyr1011His)
|
|
|
NM_025099.6(CTC1):c.3033C>T (p.Tyr1011=)
|
|
|
NM_025099.6(CTC1):c.303A>G (p.Pro101=)
|
|
|
NM_025099.6(CTC1):c.303_316del (p.Asn102fs)
|
rs2151531785
|
|
NM_025099.6(CTC1):c.3045T>A (p.Leu1015=)
|
|
|
NM_025099.6(CTC1):c.3047T>A (p.Leu1016Gln)
|
rs2151500704
|
|
NM_025099.6(CTC1):c.3049C>T (p.Gln1017Ter)
|
rs1567599296
|
|
NM_025099.6(CTC1):c.3059A>C (p.Gln1020Pro)
|
rs1987017237
|
|
NM_025099.6(CTC1):c.3066A>G (p.Pro1022=)
|
|
|
NM_025099.6(CTC1):c.3081C>T (p.Ala1027=)
|
|
|
NM_025099.6(CTC1):c.3093C>T (p.Ile1031=)
|
|
|
NM_025099.6(CTC1):c.3099dup (p.Val1034fs)
|
rs1597374251
|
|
NM_025099.6(CTC1):c.3104del (p.Phe1035fs)
|
rs1567599198
|
|
NM_025099.6(CTC1):c.3108C>T (p.Ser1036=)
|
|
|
NM_025099.6(CTC1):c.3110T>C (p.Leu1037Pro)
|
|
|
NM_025099.6(CTC1):c.3113A>C (p.Gln1038Pro)
|
rs1486092046
|
|
NM_025099.6(CTC1):c.311A>C (p.Asn104Thr)
|
|
|
NM_025099.6(CTC1):c.312C>A (p.Asn104Lys)
|
rs1987939410
|
|
NM_025099.6(CTC1):c.3131C>T (p.Ala1044Val)
|
rs1987009040
|
|
NM_025099.6(CTC1):c.3136del (p.Cys1046fs)
|
rs1223080335
|
|
NM_025099.6(CTC1):c.313C>T (p.Pro105Ser)
|
|
|
NM_025099.6(CTC1):c.3150C>T (p.Cys1050=)
|
rs1310614752
|
|
NM_025099.6(CTC1):c.3152G>A (p.Arg1051Gln)
|
|
|
NM_025099.6(CTC1):c.3156+10G>A
|
|
|
NM_025099.6(CTC1):c.3156+6G>A
|
rs1597374105
|
|
NM_025099.6(CTC1):c.3157-14T>C
|
|
|
NM_025099.6(CTC1):c.3157-15C>T
|
|
|
NM_025099.6(CTC1):c.3157-16A>C
|
rs1986997815
|
|
NM_025099.6(CTC1):c.3157-19A>G
|
|
|
NM_025099.6(CTC1):c.3157-7A>T
|
rs2151500127
|
|
NM_025099.6(CTC1):c.315C>T (p.Pro105=)
|
|
|
NM_025099.6(CTC1):c.3174G>A (p.Leu1058=)
|
rs1597373933
|
|
NM_025099.6(CTC1):c.3176G>A (p.Gly1059Asp)
|
rs957741030
|
|
NM_025099.6(CTC1):c.3192G>A (p.Thr1064=)
|
|
|
NM_025099.6(CTC1):c.3195_3203dup (p.Ala1067_Ile1068insMetThrAla)
|
|
|
NM_025099.6(CTC1):c.3197C>G (p.Thr1066Arg)
|
rs767106179
|
|
NM_025099.6(CTC1):c.320C>G (p.Pro107Arg)
|
rs760362880
|
|
NM_025099.6(CTC1):c.320C>T (p.Pro107Leu)
|
rs760362880
|
|
NM_025099.6(CTC1):c.3214A>G (p.Ile1072Val)
|
|
|
NM_025099.6(CTC1):c.3216C>T (p.Ile1072=)
|
rs2151499882
|
|
NM_025099.6(CTC1):c.3221+14G>A
|
|
|
NM_025099.6(CTC1):c.3221+15C>T
|
|
|
NM_025099.6(CTC1):c.3221+19C>A
|
rs2151499736
|
|
NM_025099.6(CTC1):c.3221+2T>C
|
|
|
NM_025099.6(CTC1):c.3221+5G>C
|
rs1986987980
|
|
NM_025099.6(CTC1):c.3222-10C>G
|
|
|
NM_025099.6(CTC1):c.3222-10C>T
|
|
|
NM_025099.6(CTC1):c.322C>T (p.Arg108Ter)
|
rs372031509
|
|
NM_025099.6(CTC1):c.3231G>A (p.Val1077=)
|
rs2151499073
|
|
NM_025099.6(CTC1):c.323G>A (p.Arg108Gln)
|
rs368398609
|
|
NM_025099.6(CTC1):c.3251C>T (p.Ala1084Val)
|
rs2151499036
|
|
NM_025099.6(CTC1):c.3253G>A (p.Val1085Met)
|
rs1209523245
|
|
NM_025099.6(CTC1):c.3253G>C (p.Val1085Leu)
|
rs1209523245
|
|
NM_025099.6(CTC1):c.3266G>A (p.Arg1089Lys)
|
|
|
NM_025099.6(CTC1):c.3271C>T (p.His1091Tyr)
|
rs1358175667
|
|
NM_025099.6(CTC1):c.3272A>G (p.His1091Arg)
|
rs1597373397
|
|
NM_025099.6(CTC1):c.3275A>G (p.His1092Arg)
|
rs1986957283
|
|
NM_025099.6(CTC1):c.3276T>C (p.His1092=)
|
|
|
NM_025099.6(CTC1):c.3278T>C (p.Val1093Ala)
|
rs2151498924
|
|
NM_025099.6(CTC1):c.3280G>A (p.Ala1094Thr)
|
rs773036519
|
|
NM_025099.6(CTC1):c.3299G>C (p.Cys1100Ser)
|
rs2151498826
|
|
NM_025099.6(CTC1):c.32C>A (p.Ser11Tyr)
|
rs1988915221
|
|
NM_025099.6(CTC1):c.33+13A>G
|
|
|
NM_025099.6(CTC1):c.33+15T>A
|
|
|
NM_025099.6(CTC1):c.33+17C>A
|
|
|
NM_025099.6(CTC1):c.33+2T>G
|
rs2151564155
|
|
NM_025099.6(CTC1):c.33+4A>G
|
rs1988914364
|
|
NM_025099.6(CTC1):c.33+6T>C
|
|
|
NM_025099.6(CTC1):c.33+7G>A
|
|
|
NM_025099.6(CTC1):c.33+7G>T
|
rs1179270612
|
|
NM_025099.6(CTC1):c.33+9T>C
|
|
|
NM_025099.6(CTC1):c.33+9T>G
|
rs373483074
|
|
NM_025099.6(CTC1):c.3301C>A (p.Pro1101Thr)
|
rs1597373346
|
|
NM_025099.6(CTC1):c.3302C>T (p.Pro1101Leu)
|
|
|
NM_025099.6(CTC1):c.3303T>C (p.Pro1101=)
|
|
|
NM_025099.6(CTC1):c.3331G>A (p.Val1111Ile)
|
|
|
NM_025099.6(CTC1):c.3331G>C (p.Val1111Leu)
|
rs374284337
|
|
NM_025099.6(CTC1):c.3351G>A (p.Val1117=)
|
|
|
NM_025099.6(CTC1):c.3356_3358dup (p.Leu1119dup)
|
rs1986946908
|
|
NM_025099.6(CTC1):c.3367G>A (p.Gly1123Arg)
|
|
|
NM_025099.6(CTC1):c.3371C>T (p.Pro1124Leu)
|
|
|
NM_025099.6(CTC1):c.3377C>T (p.Ala1126Val)
|
|
|
NM_025099.6(CTC1):c.3387+1G>A
|
rs1242486415
|
|
NM_025099.6(CTC1):c.3387+1G>C
|
|
|
NM_025099.6(CTC1):c.3387+3G>A
|
rs2151498493
|
|
NM_025099.6(CTC1):c.3387+9T>C
|
rs2151498469
|
|
NM_025099.6(CTC1):c.3388-11_3388-9del
|
rs1262324249
|
|
NM_025099.6(CTC1):c.3388-19C>T
|
|
|
NM_025099.6(CTC1):c.3388-20C>G
|
|
|
NM_025099.6(CTC1):c.3388-22_3388-17del
|
rs780812864
|
|
NM_025099.6(CTC1):c.3388-5T>C
|
|
|
NM_025099.6(CTC1):c.3388-7T>C
|
rs752759103
|
|
NM_025099.6(CTC1):c.3388-8C>T
|
|
|
NM_025099.6(CTC1):c.3394G>A (p.Ala1132Thr)
|
rs1986931683
|
|
NM_025099.6(CTC1):c.33C>T (p.Ser11=)
|
rs757066174
|
|
NM_025099.6(CTC1):c.34-6C>T
|
|
|
NM_025099.6(CTC1):c.3401T>C (p.Val1134Ala)
|
|
|
NM_025099.6(CTC1):c.3405C>T (p.Asp1135=)
|
|
|
NM_025099.6(CTC1):c.3409C>T (p.Pro1137Ser)
|
rs2151498057
|
|
NM_025099.6(CTC1):c.3410C>G (p.Pro1137Arg)
|
|
|
NM_025099.6(CTC1):c.3413T>A (p.Met1138Lys)
|
rs376216450
|
|
NM_025099.6(CTC1):c.341del (p.Leu113_Leu114insTer)
|
|
|
NM_025099.6(CTC1):c.3421T>C (p.Phe1141Leu)
|
rs1302492698
|
|
NM_025099.6(CTC1):c.3425_3426delinsAT (p.Leu1142His)
|
rs199473681
|
|
NM_025099.6(CTC1):c.3432A>C (p.Thr1144=)
|
rs1285633618
|
|
NM_025099.6(CTC1):c.3434T>G (p.Leu1145Arg)
|
|
|
NM_025099.6(CTC1):c.3436T>C (p.Cys1146Arg)
|
|
|
NM_025099.6(CTC1):c.3437del (p.Cys1146fs)
|
|
|
NM_025099.6(CTC1):c.3440C>G (p.Thr1147Ser)
|
rs771446414
|
|
NM_025099.6(CTC1):c.3441T>C (p.Thr1147=)
|
|
|
NM_025099.6(CTC1):c.3447C>T (p.Pro1149=)
|
|
|
NM_025099.6(CTC1):c.3454C>G (p.Leu1152Val)
|
|
|
NM_025099.6(CTC1):c.3456_3462del (p.Arg1153fs)
|
rs1986920257
|
|
NM_025099.6(CTC1):c.3457C>T (p.Arg1153Cys)
|
|
|
NM_025099.6(CTC1):c.3458G>C (p.Arg1153Pro)
|
rs748674791
|
|
NM_025099.6(CTC1):c.3468G>T (p.Val1156=)
|
rs1213104518
|
|
NM_025099.6(CTC1):c.3472T>C (p.Ser1158Pro)
|
|
|
NM_025099.6(CTC1):c.3476T>C (p.Phe1159Ser)
|
|
|
NM_025099.6(CTC1):c.3490A>G (p.Lys1164Glu)
|
rs1986917089
|
|
NM_025099.6(CTC1):c.3491A>C (p.Lys1164Thr)
|
|
|
NM_025099.6(CTC1):c.3492A>G (p.Lys1164=)
|
rs952574848
|
|
NM_025099.6(CTC1):c.3496T>A (p.Ser1166Thr)
|
|
|
NM_025099.6(CTC1):c.3497C>T (p.Ser1166Leu)
|
|
|
NM_025099.6(CTC1):c.3498G>T (p.Ser1166=)
|
rs369209127
|
|
NM_025099.6(CTC1):c.3506T>C (p.Val1169Ala)
|
|
|
NM_025099.6(CTC1):c.3514+15G>A
|
|
|
NM_025099.6(CTC1):c.3514+16G>C
|
|
|
NM_025099.6(CTC1):c.3514+16G>T
|
|
|
NM_025099.6(CTC1):c.3514+4A>G
|
|
|
NM_025099.6(CTC1):c.3514+7T>C
|
|
|
NM_025099.6(CTC1):c.3514+8T>G
|
|
|
NM_025099.6(CTC1):c.3515-19T>C
|
rs2151497033
|
|
NM_025099.6(CTC1):c.3515-3C>T
|
rs776835897
|
|
NM_025099.6(CTC1):c.3515-8C>T
|
|
|
NM_025099.6(CTC1):c.3515-8del
|
rs2151496968
|
|
NM_025099.6(CTC1):c.3521C>T (p.Pro1174Leu)
|
|
|
NM_025099.6(CTC1):c.3529C>G (p.Gln1177Glu)
|
rs1349506921
|
|
NM_025099.6(CTC1):c.3533G>A (p.Arg1178Gln)
|
rs764813118
|
|
NM_025099.6(CTC1):c.3533G>C (p.Arg1178Pro)
|
rs764813118
|
|
NM_025099.6(CTC1):c.3549G>A (p.Glu1183=)
|
|
|
NM_025099.6(CTC1):c.3555T>G (p.Pro1185=)
|
rs755022443
|
|
NM_025099.6(CTC1):c.3558C>T (p.Phe1186=)
|
|
|
NM_025099.6(CTC1):c.3567C>G (p.His1189Gln)
|
rs374942931
|
|
NM_025099.6(CTC1):c.3576C>G (p.Pro1192=)
|
rs2151496784
|
|
NM_025099.6(CTC1):c.3577A>G (p.Arg1193Gly)
|
rs2151496778
|
|
NM_025099.6(CTC1):c.3583C>G (p.Arg1195Gly)
|
rs199473682
|
|
NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter)
|
rs199473682
|
|
NM_025099.6(CTC1):c.3584G>A (p.Arg1195Gln)
|
rs1206095374
|
|
NM_025099.6(CTC1):c.3585del (p.Leu1196fs)
|
|
|
NM_025099.6(CTC1):c.3586T>C (p.Leu1196=)
|
|
|
NM_025099.6(CTC1):c.358C>T (p.Leu120=)
|
rs2151531587
|
|
NM_025099.6(CTC1):c.3591C>T (p.Ser1197=)
|
rs115990839
|
|
NM_025099.6(CTC1):c.3598T>A (p.Ser1200Thr)
|
|
|
NM_025099.6(CTC1):c.3601A>C (p.Ile1201Leu)
|
|
|
NM_025099.6(CTC1):c.360A>G (p.Leu120=)
|
rs201957649
|
|
NM_025099.6(CTC1):c.3612A>G (p.Ser1204=)
|
|
|
NM_025099.6(CTC1):c.3628C>G (p.Leu1210Val)
|
|
|
NM_025099.6(CTC1):c.3628C>T (p.Leu1210=)
|
|
|
NM_025099.6(CTC1):c.3638T>C (p.Leu1213Pro)
|
|
|
NM_025099.6(CTC1):c.3642T>C (p.Ala1214=)
|
rs2151496599
|
|
NM_025099.6(CTC1):c.3645C>G (p.Ser1215=)
|
rs2151496592
|
|
NM_025099.6(CTC1):c.3648C>G (p.Ser1216=)
|
rs2151496576
|
|
NM_025099.6(CTC1):c.3649T>C (p.Cys1217Arg)
|
rs1432386993
|
|
NM_025099.6(CTC1):c.36A>G (p.Glu12=)
|
|
|
NM_025099.6(CTC1):c.383G>T (p.Cys128Phe)
|
rs1339616084
|
|
NM_025099.6(CTC1):c.398T>C (p.Leu133Pro)
|
|
|
NM_025099.6(CTC1):c.400T>C (p.Tyr134His)
|
|
|
NM_025099.6(CTC1):c.401A>G (p.Tyr134Cys)
|
rs2151531350
|
|
NM_025099.6(CTC1):c.408A>G (p.Arg136=)
|
|
|
NM_025099.6(CTC1):c.409_410del (p.Arg136_Asp137insTer)
|
|
|
NM_025099.6(CTC1):c.40G>A (p.Ala14Thr)
|
|
|
NM_025099.6(CTC1):c.411T>G (p.Asp137Glu)
|
|
|
NM_025099.6(CTC1):c.412A>G (p.Asn138Asp)
|
|
|
NM_025099.6(CTC1):c.413A>G (p.Asn138Ser)
|
|
|
NM_025099.6(CTC1):c.416C>G (p.Thr139Ser)
|
rs2151531295
|
|
NM_025099.6(CTC1):c.420C>T (p.Gly140=)
|
rs1207136461
|
|
NM_025099.6(CTC1):c.429C>G (p.Ser143Arg)
|
|
|
NM_025099.6(CTC1):c.435+3G>T
|
rs6503093
|
|
NM_025099.6(CTC1):c.435+9A>C
|
|
|
NM_025099.6(CTC1):c.436-10T>A
|
|
|
NM_025099.6(CTC1):c.436-17C>G
|
|
|
NM_025099.6(CTC1):c.436-1G>A
|
|
|
NM_025099.6(CTC1):c.438C>A (p.Leu146=)
|
rs922605347
|
|
NM_025099.6(CTC1):c.438C>T (p.Leu146=)
|
|
|
NM_025099.6(CTC1):c.439A>G (p.Ile147Val)
|
|
|
NM_025099.6(CTC1):c.440T>C (p.Ile147Thr)
|
|
|
NM_025099.6(CTC1):c.444C>T (p.Asp148=)
|
|
|
NM_025099.6(CTC1):c.447G>C (p.Leu149=)
|
|
|
NM_025099.6(CTC1):c.450C>G (p.Asp150Glu)
|
rs2151530771
|
|
NM_025099.6(CTC1):c.455C>G (p.Ser152Cys)
|
rs1987914806
|
|
NM_025099.6(CTC1):c.455C>T (p.Ser152Phe)
|
rs1987914806
|
|
NM_025099.6(CTC1):c.456T>C (p.Ser152=)
|
|
|
NM_025099.6(CTC1):c.458G>A (p.Trp153Ter)
|
rs2151530716
|
|
NM_025099.6(CTC1):c.463G>A (p.Gly155Ser)
|
|
|
NM_025099.6(CTC1):c.466C>G (p.His156Asp)
|
rs1987914284
|
|
NM_025099.6(CTC1):c.467A>G (p.His156Arg)
|
|
|
NM_025099.6(CTC1):c.470T>C (p.Leu157Pro)
|
rs747551190
|
|
NM_025099.6(CTC1):c.480C>G (p.Phe160Leu)
|
|
|
NM_025099.6(CTC1):c.480C>T (p.Phe160=)
|
|
|
NM_025099.6(CTC1):c.495C>A (p.Tyr165Ter)
|
|
|
NM_025099.6(CTC1):c.502C>T (p.Pro168Ser)
|
rs1385087993
|
|
NM_025099.6(CTC1):c.503C>A (p.Pro168His)
|
rs1567613854
|
|
NM_025099.6(CTC1):c.51G>A (p.Glu17=)
|
|
|
NM_025099.6(CTC1):c.52G>C (p.Asp18His)
|
rs1988413224
|
|
NM_025099.6(CTC1):c.534C>G (p.His178Gln)
|
rs1251648065
|
|
NM_025099.6(CTC1):c.53_55dup (p.Asp18_Ala19insAsp)
|
|
|
NM_025099.6(CTC1):c.547G>A (p.Asp183Asn)
|
rs751596403
|
|
NM_025099.6(CTC1):c.54T>C (p.Asp18=)
|
|
|
NM_025099.6(CTC1):c.556G>A (p.Val186Met)
|
rs185346402
|
|
NM_025099.6(CTC1):c.556G>C (p.Val186Leu)
|
rs185346402
|
|
NM_025099.6(CTC1):c.574A>G (p.Thr192Ala)
|
|
|
NM_025099.6(CTC1):c.575C>G (p.Thr192Ser)
|
|
|
NM_025099.6(CTC1):c.583C>T (p.Pro195Ser)
|
rs2151530350
|
|
NM_025099.6(CTC1):c.58C>T (p.Gln20Ter)
|
|
|
NM_025099.6(CTC1):c.591del (p.Val198fs)
|
rs1567613669
|
|
NM_025099.6(CTC1):c.596C>G (p.Thr199Arg)
|
rs747323535
|
|
NM_025099.6(CTC1):c.603C>T (p.Ile201=)
|
|
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NM_025099.6(CTC1):c.615C>T (p.Tyr205=)
|
rs571035242
|
|
NM_025099.6(CTC1):c.622A>G (p.Ser208Gly)
|
|
|
NM_025099.6(CTC1):c.623G>A (p.Ser208Asn)
|
|
|
NM_025099.6(CTC1):c.633C>T (p.Cys211=)
|
|
|
NM_025099.6(CTC1):c.63C>G (p.Val21=)
|
|
|
NM_025099.6(CTC1):c.647+10C>A
|
|
|
NM_025099.6(CTC1):c.647+11C>T
|
|
|
NM_025099.6(CTC1):c.647+12del
|
rs755954781
|
|
NM_025099.6(CTC1):c.647+18G>A
|
rs373103137
|
|
NM_025099.6(CTC1):c.647+6T>C
|
|
|
NM_025099.6(CTC1):c.647+8C>T
|
rs2151530046
|
|
NM_025099.6(CTC1):c.647G>A (p.Arg216Lys)
|
|
|
NM_025099.6(CTC1):c.648-8C>T
|
rs2151527978
|
|
NM_025099.6(CTC1):c.656T>C (p.Leu219Pro)
|
rs750372074
|
|
NM_025099.6(CTC1):c.662G>A (p.Gly221Asp)
|
rs1987831900
|
|
NM_025099.6(CTC1):c.66C>T (p.Phe22=)
|
|
|
NM_025099.6(CTC1):c.671G>A (p.Arg224Gln)
|
|
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NM_025099.6(CTC1):c.67A>T (p.Ile23Phe)
|
|
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NM_025099.6(CTC1):c.694C>T (p.Arg232Ter)
|
|
|
NM_025099.6(CTC1):c.697T>C (p.Leu233=)
|
rs775207921
|
|
NM_025099.6(CTC1):c.702T>G (p.Ser234Arg)
|
|
|
NM_025099.6(CTC1):c.711G>A (p.Val237=)
|
rs1196630450
|
|
NM_025099.6(CTC1):c.71A>G (p.Gln24Arg)
|
|
|
NM_025099.6(CTC1):c.723_724del (p.Lys242fs)
|
|
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NM_025099.6(CTC1):c.724_727del (p.Lys242fs)
|
rs199473674
|
|
NM_025099.6(CTC1):c.736A>G (p.Ile246Val)
|
|
|
NM_025099.6(CTC1):c.737T>C (p.Ile246Thr)
|
rs2151527713
|
|
NM_025099.6(CTC1):c.743C>T (p.Ser248Phe)
|
|
|
NM_025099.6(CTC1):c.745C>G (p.Leu249Val)
|
rs1987824590
|
|
NM_025099.6(CTC1):c.745C>T (p.Leu249Phe)
|
rs1987824590
|
|
NM_025099.6(CTC1):c.751A>G (p.Arg251Gly)
|
rs1987824097
|
|
NM_025099.6(CTC1):c.754T>G (p.Ser252Ala)
|
|
|
NM_025099.6(CTC1):c.768C>T (p.Val256=)
|
|
|
NM_025099.6(CTC1):c.771C>G (p.Thr257=)
|
|
|
NM_025099.6(CTC1):c.774C>T (p.His258=)
|
|
|
NM_025099.6(CTC1):c.787G>A (p.Val263Met)
|
|
|
NM_025099.6(CTC1):c.787G>C (p.Val263Leu)
|
rs1010062693
|
|
NM_025099.6(CTC1):c.792+12G>A
|
rs2151527447
|
|
NM_025099.6(CTC1):c.792+9T>A
|
|
|
NM_025099.6(CTC1):c.793-18T>G
|
rs2151524334
|
|
NM_025099.6(CTC1):c.793-20C>T
|
|
|
NM_025099.6(CTC1):c.793-4C>A
|
|
|
NM_025099.6(CTC1):c.793-4C>G
|
|
|
NM_025099.6(CTC1):c.793-8C>A
|
rs2151524293
|
|
NM_025099.6(CTC1):c.799G>A (p.Ala267Thr)
|
rs1315598261
|
|
NM_025099.6(CTC1):c.7G>T (p.Ala3Ser)
|
|
|
NM_025099.6(CTC1):c.802C>T (p.Gln268Ter)
|
|
|
NM_025099.6(CTC1):c.805C>T (p.Leu269=)
|
rs898388984
|
|
NM_025099.6(CTC1):c.808G>T (p.Val270Leu)
|
|
|
NM_025099.6(CTC1):c.810G>A (p.Val270=)
|
|
|
NM_025099.6(CTC1):c.811T>C (p.Trp271Arg)
|
rs1313170347
|
|
NM_025099.6(CTC1):c.812G>A (p.Trp271Ter)
|
rs2151524168
|
|
NM_025099.6(CTC1):c.813G>T (p.Trp271Cys)
|
|
|
NM_025099.6(CTC1):c.822C>T (p.Ala274=)
|
|
|
NM_025099.6(CTC1):c.826C>T (p.Arg276Trp)
|
rs267605102
|
|
NM_025099.6(CTC1):c.833G>T (p.Gly278Val)
|
rs768853291
|
|
NM_025099.6(CTC1):c.849G>C (p.Leu283=)
|
rs2151523972
|
|
NM_025099.6(CTC1):c.853G>C (p.Glu285Gln)
|
rs2151523962
|
|
NM_025099.6(CTC1):c.860G>A (p.Arg287Gln)
|
rs1987718148
|
|
NM_025099.6(CTC1):c.874C>G (p.Arg292Gly)
|
rs1013688033
|
|
NM_025099.6(CTC1):c.875G>A (p.Arg292His)
|
|
|
NM_025099.6(CTC1):c.880C>T (p.Gln294Ter)
|
rs2151523798
|
|
NM_025099.6(CTC1):c.884_889del (p.Arg295_Gln296del)
|
rs2151523720
|
|
NM_025099.6(CTC1):c.892G>T (p.Val298Phe)
|
rs2151523686
|
|
NM_025099.6(CTC1):c.896G>A (p.Trp299Ter)
|
|
|
NM_025099.6(CTC1):c.8C>T (p.Ala3Val)
|
rs923853643
|
|
NM_025099.6(CTC1):c.903C>G (p.Thr301=)
|
|
|
NM_025099.6(CTC1):c.903C>T (p.Thr301=)
|
rs1597385951
|
|
NM_025099.6(CTC1):c.917G>T (p.Arg306Leu)
|
rs567779457
|
|
NM_025099.6(CTC1):c.926T>G (p.Leu309Arg)
|
rs1555534628
|
|
NM_025099.6(CTC1):c.934C>T (p.Pro312Ser)
|
|
|
NM_025099.6(CTC1):c.939A>G (p.Glu313=)
|
|
|
NM_025099.6(CTC1):c.946C>T (p.Gln316Ter)
|
|
|
NM_025099.6(CTC1):c.951_956del (p.318LE[2])
|
rs766700799
|
|
NM_025099.6(CTC1):c.955G>A (p.Glu319Lys)
|
|
|
NM_025099.6(CTC1):c.955G>C (p.Glu319Gln)
|
|
|
NM_025099.6(CTC1):c.958_969del (p.318LE[1])
|
rs763129063
|
|
NM_025099.6(CTC1):c.972A>G (p.Gly324=)
|
|
|
NM_025099.6(CTC1):c.973C>T (p.Pro325Ser)
|
|
|
NM_025099.6(CTC1):c.979T>C (p.Leu327=)
|
rs1987705280
|
|
NM_025099.6(CTC1):c.990_991delinsTA (p.Pro331Thr)
|
rs2151523180
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_198253.3(TERT):c.136G>T (p.Ala46Ser)
|
rs1579599228
|
|
NM_198253.3(TERT):c.1546G>A (p.Asp516Asn)
|
rs1156765768
|
|
NM_198253.3(TERT):c.2011C>G (p.Arg671Gly)
|
rs1060503011
|
|
NM_198253.3(TERT):c.2058C>G (p.Ile686Met)
|
rs745590324
|
|
NM_198253.3(TERT):c.2130+5G>A
|
rs777102890
|
|
NM_198253.3(TERT):c.2149T>A (p.Tyr717Asn)
|
rs2126640445
|
|
NM_198253.3(TERT):c.2590C>T (p.Leu864=)
|
rs777358007
|
|
NM_198253.3(TERT):c.2839T>C (p.Ser947Pro)
|
rs915854031
|
|
NM_198253.3(TERT):c.2844-12C>T
|
rs199765802
|
|
NM_198253.3(TERT):c.3346G>C (p.Glu1116Gln)
|
rs1196160200
|
|
NM_198253.3(TERT):c.702G>A (p.Leu234=)
|
rs754359147
|
|
NM_198253.3(TERT):c.777G>A (p.Pro259=)
|
rs746036694
|
|