NM_001283009.2(RTEL1):c.538+160A>T
|
rs6010998
|
0.81932
|
NM_001283009.2(RTEL1):c.395+164T>C
|
rs2297433
|
0.81920
|
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.1349-135G>C
|
rs6062490
|
0.81468
|
NM_001283009.2(RTEL1):c.1596-28T>C
|
rs2738785
|
0.81463
|
NM_001283009.2(RTEL1):c.1038-104G>A
|
rs2297438
|
0.80871
|
NM_006129.4(BMP1):c.-170A>G
|
rs111596355
|
0.79635
|
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=)
|
rs2236506
|
0.79477
|
NM_014883.4(FAM13A):c.843+16335C>A
|
rs2609255
|
0.73777
|
NM_001283009.2(RTEL1):c.958+18C>T
|
rs41309367
|
0.68710
|
NM_198253.3(TERT):c.1574-4455C>T
|
rs2853677
|
0.63320
|
NM_198253.3(TERT):c.2654+269T>C
|
rs2075786
|
0.54966
|
NM_198253.3(TERT):c.1574-3777G>T
|
rs2736100
|
0.52208
|
NM_004415.4(DSP):c.726+219T>G
|
rs2076295
|
0.45776
|
NM_001283009.2(RTEL1):c.477+35C>T
|
rs2297434
|
0.45720
|
NM_001283009.2(RTEL1):c.700-115G>A
|
rs6062300
|
0.44984
|
NM_198253.3(TERT):c.1951-205G>A
|
rs10069690
|
0.35840
|
NM_001317778.2(SFTPC):c.*123G>A
|
rs7592
|
0.35835
|
NM_001098668.4(SFTPA2):c.292+21G>A
|
rs17884396
|
0.33614
|
NM_001098668.4(SFTPA2):c.420C>T (p.Ser140=)
|
rs1965707
|
0.30680
|
NM_198253.3(TERT):c.1574-3235G>T
|
rs7705526
|
0.28965
|
NM_198253.3(TERT):c.1769+225G>T
|
rs7726159
|
0.28907
|
NM_001317778.2(SFTPC):c.436-26C>G
|
rs2070687
|
0.28233
|
NM_001317778.2(SFTPC):c.*174G>A
|
rs1139547
|
0.26088
|
NM_001317778.2(SFTPC):c.539G>A (p.Ser180Asn)
|
rs1124
|
0.25849
|
NM_001098668.4(SFTPA2):c.667C>A (p.Gln223Lys)
|
rs1965708
|
0.25261
|
NM_001283009.2(RTEL1):c.766-19G>A
|
rs2297437
|
0.25212
|
NC_000005.10:g.1295234A>G
|
rs2853669
|
0.24174
|
NC_000005.10:g.1297373C>T
|
rs2736108
|
0.23298
|
NM_198253.3(TERT):c.915G>A (p.Ala305=)
|
rs2736098
|
0.21206
|
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn)
|
rs4715
|
0.20729
|
NM_198253.3(TERT):c.1950+245C>T
|
rs2242652
|
0.17562
|
NM_001283009.2(RTEL1):c.1636+29C>G
|
rs2777940
|
0.14402
|
NM_001317778.2(SFTPC):c.*173C>T
|
rs1126931
|
0.14333
|
NM_019009.4(TOLLIP):c.184-1067G>C
|
rs111521887
|
0.12301
|
NM_001283009.2(RTEL1):c.3499+5G>T
|
rs41309931
|
0.10067
|
NM_019009.4(TOLLIP):c.33+4867A>G
|
rs5743890
|
0.09797
|
NM_198253.3(TERT):c.3039C>T (p.His1013=)
|
rs33954691
|
0.08834
|
NM_001283009.2(RTEL1):c.582T>C (p.Ile194=)
|
rs73920935
|
0.08708
|
NM_003018.3(SFTPC):c.-134G>C
|
rs28438700
|
0.06596
|
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=)
|
rs61753459
|
0.06433
|
NM_002458.3(MUC5B):c.12537G>C (p.Gln4179His)
|
rs185838223
|
0.06351
|
NM_001283009.2(RTEL1):c.3891A>G (p.Pro1297=)
|
rs1056990
|
0.06020
|
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_001317778.2(SFTPC):c.201+14G>A
|
rs8192327
|
0.05091
|
NM_001283009.2(RTEL1):c.1482-6G>A
|
rs76364377
|
0.04646
|
NM_002582.4(PARN):c.918+14T>C
|
rs75783314
|
0.04521
|
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_005094.4(SLC27A4):c.1052A>G (p.Asn351Ser)
|
rs111417655
|
0.02275
|
NM_198253.3(TERT):c.835G>A (p.Ala279Thr)
|
rs61748181
|
0.02258
|
NM_198253.3(TERT):c.2031C>T (p.Gly677=)
|
rs33956095
|
0.02136
|
NM_198253.3(TERT):c.3324G>A (p.Pro1108=)
|
rs35033501
|
0.01868
|
NM_198253.3(TERT):c.1950+10C>T
|
rs33948291
|
0.01758
|
NM_001283009.2(RTEL1):c.3101C>A (p.Pro1034His)
|
rs115610405
|
0.01644
|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)
|
rs35719940
|
0.01370
|
NM_002458.3(MUC5B):c.3834C>T (p.Thr1278=)
|
rs55913363
|
0.01285
|
NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln)
|
rs35640778
|
0.01190
|
NM_001283009.2(RTEL1):c.1192-9del
|
rs200008996
|
0.01145
|
NM_001283009.2(RTEL1):c.2546G>A (p.Gly849Asp)
|
rs190887884
|
0.01112
|
NM_001317778.2(SFTPC):c.*36A>G
|
rs75518353
|
0.01088
|
NM_001283009.2(RTEL1):c.936G>A (p.Leu312=)
|
rs41302954
|
0.00947
|
NM_002582.4(PARN):c.1383T>C (p.Leu461=)
|
rs143472178
|
0.00920
|
NM_001317778.2(SFTPC):c.43-7G>A
|
rs79440568
|
0.00861
|
NM_198253.3(TERT):c.1659C>T (p.Val553=)
|
rs35809415
|
0.00838
|
NM_006129.5(BMP1):c.-15C>G
|
rs373839736
|
0.00814
|
NM_198253.3(TERT):c.2097C>T (p.Ala699=)
|
rs33963617
|
0.00739
|
NM_001283009.2(RTEL1):c.103-6G>A
|
rs57695352
|
0.00707
|
NM_003018.3(SFTPC):c.-91C>T
|
rs77253713
|
0.00704
|
NM_003018.3(SFTPC):c.-92C>G
|
rs79647630
|
0.00682
|
NM_001283009.2(RTEL1):c.2852-16G>A
|
rs143229960
|
0.00649
|
NM_002582.4(PARN):c.1690G>A (p.Val564Ile)
|
rs35722504
|
0.00623
|
NM_001283009.2(RTEL1):c.3692C>T (p.Thr1231Met)
|
rs144477693
|
0.00581
|
NM_001283009.2(RTEL1):c.2898G>C (p.Glu966Asp)
|
rs115464632
|
0.00579
|
NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His)
|
rs115423936
|
0.00567
|
NM_001317778.2(SFTPC):c.18+13G>A
|
rs74515418
|
0.00511
|
NM_001283009.2(RTEL1):c.1800+14C>T
|
rs150377952
|
0.00456
|
NM_002582.4(PARN):c.840+6del
|
rs531994703
|
0.00452
|
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln)
|
rs34957318
|
0.00444
|
NM_001283009.2(RTEL1):c.1548C>T (p.Val516=)
|
rs116057134
|
0.00441
|
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_001283009.2(RTEL1):c.3110-17T>C
|
rs192060579
|
0.00373
|
NM_002458.3(MUC5B):c.16859C>T (p.Ala5620Val)
|
rs113495521
|
0.00367
|
NM_001283009.2(RTEL1):c.1017C>T (p.Ser339=)
|
rs35877957
|
0.00353
|
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=)
|
rs116900568
|
0.00329
|
NM_198253.3(TERT):c.1950+15G>A
|
rs35695689
|
0.00326
|
NM_001283009.2(RTEL1):c.1349-17C>T
|
rs58559263
|
0.00324
|
NM_001283009.2(RTEL1):c.396-37C>T
|
rs41297642
|
0.00322
|
NM_001098668.4(SFTPA2):c.253C>T (p.Arg85Cys)
|
rs150273659
|
0.00321
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
NM_001283009.2(RTEL1):c.3056A>G (p.Gln1019Arg)
|
rs116053476
|
0.00305
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
NM_001317778.2(SFTPC):c.288C>T (p.Ile96=)
|
rs79866047
|
0.00294
|
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_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.2653-18C>T
|
rs185974219
|
0.00217
|
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_002582.4(PARN):c.840+6T>C
|
rs59687658
|
0.00184
|
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_002582.4(PARN):c.1741G>A (p.Gly581Arg)
|
rs75007073
|
0.00146
|
NM_001283009.2(RTEL1):c.1605G>A (p.Glu535=)
|
rs114292675
|
0.00144
|
NM_198253.3(TERT):c.1574-16G>C
|
rs79698601
|
0.00144
|
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_001317778.2(SFTPC):c.228G>C (p.Pro76=)
|
rs75413490
|
0.00124
|
NM_198253.3(TERT):c.534C>T (p.Leu178=)
|
rs370420108
|
0.00124
|
NM_198253.3(TERT):c.2769G>A (p.Pro923=)
|
rs200174990
|
0.00118
|
NM_001283009.2(RTEL1):c.3175G>A (p.Ala1059Thr)
|
rs115303435
|
0.00112
|
NM_002582.4(PARN):c.1761C>T (p.Ser587=)
|
rs148052946
|
0.00110
|
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr)
|
rs143550996
|
0.00108
|
NM_002582.4(PARN):c.1782C>T (p.Thr594=)
|
rs187555579
|
0.00107
|
NM_001283009.2(RTEL1):c.395+12G>A
|
rs201572070
|
0.00106
|
NM_198253.3(TERT):c.572G>C (p.Ser191Thr)
|
rs11952056
|
0.00100
|
NM_002582.4(PARN):c.1263-8T>G
|
rs182460499
|
0.00097
|
NM_001283009.2(RTEL1):c.1481+18C>T
|
rs144022543
|
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_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_001317778.2(SFTPC):c.24C>G (p.Val8=)
|
rs144603526
|
0.00083
|
NM_198253.3(TERT):c.1849C>T (p.Leu617=)
|
rs140951453
|
0.00083
|
NM_001283009.2(RTEL1):c.2787C>T (p.Ala929=)
|
rs115030322
|
0.00081
|
NM_001283009.2(RTEL1):c.2940T>C (p.Pro980=)
|
rs141618172
|
0.00074
|
NM_002582.4(PARN):c.825C>T (p.His275=)
|
rs374114285
|
0.00073
|
NM_001283009.2(RTEL1):c.1349-14C>T
|
rs373301404
|
0.00068
|
NM_001283009.2(RTEL1):c.1595+19G>A
|
rs202032186
|
0.00067
|
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu)
|
rs139083375
|
0.00065
|
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_198253.3(TERT):c.2131-16G>A
|
rs146768484
|
0.00061
|
NM_001317778.2(SFTPC):c.42G>A (p.Pro14=)
|
rs199905878
|
0.00059
|
NM_006129.4(BMP1):c.-126G>A
|
rs527604798
|
0.00057
|
NM_198253.3(TERT):c.1836C>G (p.Ala612=)
|
rs34170122
|
0.00056
|
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_198253.3(TERT):c.1953C>T (p.Ala651=)
|
rs201088708
|
0.00054
|
NM_198253.3(TERT):c.769G>T (p.Ala257Ser)
|
rs964055372
|
0.00053
|
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_002582.4(PARN):c.1874C>T (p.Ser625Leu)
|
rs201963032
|
0.00051
|
NM_001283009.2(RTEL1):c.971G>A (p.Arg324His)
|
rs113684274
|
0.00050
|
NM_002582.4(PARN):c.1102A>T (p.Ser368Cys)
|
rs138984302
|
0.00050
|
NM_002582.4(PARN):c.1464C>T (p.Pro488=)
|
rs61748886
|
0.00050
|
NM_198253.3(TERT):c.2106G>A (p.Pro702=)
|
rs151055240
|
0.00050
|
NM_001283009.2(RTEL1):c.2349C>T (p.Phe783=)
|
rs200068703
|
0.00049
|
NM_198253.3(TERT):c.2130+10G>A
|
rs373879259
|
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_002582.4(PARN):c.1843A>G (p.Lys615Glu)
|
rs368440052
|
0.00046
|
NM_001283009.2(RTEL1):c.2706C>T (p.Ala902=)
|
rs116788553
|
0.00045
|
NM_001283009.2(RTEL1):c.2413+15C>T
|
rs376389450
|
0.00044
|
NM_001283009.2(RTEL1):c.959-10C>T
|
rs202035834
|
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_001283009.2(RTEL1):c.245C>T (p.Pro82Leu)
|
rs143461704
|
0.00042
|
NM_001283009.2(RTEL1):c.2652+4C>T
|
rs374540895
|
0.00042
|
NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val)
|
rs201685063
|
0.00042
|
NM_001283009.2(RTEL1):c.3109+11C>T
|
rs369098224
|
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_001283009.2(RTEL1):c.2852-17C>T
|
rs200335181
|
0.00039
|
NM_198253.3(TERT):c.1968G>A (p.Ser656=)
|
rs368784316
|
0.00039
|
NM_002582.4(PARN):c.466G>T (p.Ala156Ser)
|
rs200103366
|
0.00038
|
NM_198253.3(TERT):c.2582+11C>T
|
rs180675821
|
0.00036
|
NM_001283009.2(RTEL1):c.1833C>T (p.Ala611=)
|
rs116502880
|
0.00035
|
NM_001283009.2(RTEL1):c.2325C>T (p.Ser775=)
|
rs138950475
|
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_198253.3(TERT):c.2775C>T (p.His925=)
|
rs34528119
|
0.00035
|
NM_198253.3(TERT):c.219+7C>T
|
rs573817924
|
0.00034
|
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_001283009.2(RTEL1):c.1267-17G>A
|
rs558289937
|
0.00031
|
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_198253.3(TERT):c.1932G>A (p.Thr644=)
|
rs148582238
|
0.00031
|
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_002458.3(MUC5B):c.3926C>T (p.Thr1309Met)
|
rs200226020
|
0.00030
|
NM_198253.3(TERT):c.2991G>A (p.Val997=)
|
rs376266401
|
0.00030
|
NM_198253.3(TERT):c.3333G>A (p.Thr1111=)
|
rs200102606
|
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_198253.3(TERT):c.2520G>A (p.Leu840=)
|
rs144310369
|
0.00029
|
NM_001283009.2(RTEL1):c.2992+11C>T
|
rs200228490
|
0.00028
|
NM_001283009.2(RTEL1):c.3900G>T (p.Gln1300His)
|
rs374244090
|
0.00028
|
NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser)
|
rs138188555
|
0.00027
|
NM_001317778.2(SFTPC):c.*12T>A
|
rs200469074
|
0.00027
|
NM_002582.4(PARN):c.1006-5T>C
|
rs377692519
|
0.00026
|
NM_001283009.2(RTEL1):c.2556+20G>A
|
rs183461089
|
0.00025
|
NM_001283009.2(RTEL1):c.3822+8C>T
|
rs373109673
|
0.00025
|
NM_198253.3(TERT):c.403G>A (p.Gly135Arg)
|
rs200843534
|
0.00025
|
NM_001283009.2(RTEL1):c.3000G>A (p.Thr1000=)
|
rs139384702
|
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_198253.3(TERT):c.1138C>T (p.Pro380Ser)
|
rs144756946
|
0.00024
|
NM_198253.3(TERT):c.1951-6C>T
|
rs200461281
|
0.00024
|
NM_198253.3(TERT):c.2014C>T (p.Arg672Cys)
|
rs368430301
|
0.00024
|
NM_002582.4(PARN):c.1434C>T (p.Asp478=)
|
rs368012289
|
0.00023
|
NM_198253.3(TERT):c.1931C>T (p.Thr644Met)
|
rs201927653
|
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_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu)
|
rs201682415
|
0.00022
|
NM_001283009.2(RTEL1):c.2678C>T (p.Thr893Met)
|
rs141717966
|
0.00021
|
NM_002582.4(PARN):c.1413T>C (p.Ile471=)
|
rs371869778
|
0.00021
|
NM_002582.4(PARN):c.1635C>G (p.Pro545=)
|
rs372937126
|
0.00021
|
NM_002582.4(PARN):c.1733T>G (p.Leu578Arg)
|
rs748575531
|
0.00021
|
NM_002582.4(PARN):c.1785T>G (p.Asp595Glu)
|
rs200434143
|
0.00021
|
NM_198253.3(TERT):c.3207C>T (p.Ala1069=)
|
rs376835357
|
0.00021
|
NM_198253.3(TERT):c.3257G>A (p.Arg1086His)
|
rs200288187
|
0.00021
|
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_001283009.2(RTEL1):c.3463G>A (p.Val1155Met)
|
rs149145821
|
0.00020
|
NM_001283009.2(RTEL1):c.919+17A>G
|
rs764198775
|
0.00020
|
NM_002582.4(PARN):c.1493G>A (p.Ser498Asn)
|
rs200471459
|
0.00020
|
NM_198253.3(TERT):c.2391C>G (p.Ser797=)
|
rs377216965
|
0.00020
|
NM_001283009.2(RTEL1):c.1038-15T>C
|
rs200181490
|
0.00019
|
NM_001283009.2(RTEL1):c.1349-9G>A
|
rs772899702
|
0.00019
|
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_001283009.2(RTEL1):c.396-18G>A
|
rs200598131
|
0.00019
|
NM_002582.4(PARN):c.1406-9C>T
|
rs530099133
|
0.00019
|
NM_002582.4(PARN):c.389-8G>A
|
rs200322751
|
0.00019
|
NM_002582.4(PARN):c.943A>G (p.Thr315Ala)
|
rs371788207
|
0.00019
|
NM_198253.3(TERT):c.2884C>T (p.Arg962Cys)
|
rs144697790
|
0.00019
|
NM_001283009.2(RTEL1):c.1136-18C>T
|
rs377380761
|
0.00018
|
NM_001283009.2(RTEL1):c.2523C>T (p.Ser841=)
|
rs764719355
|
0.00018
|
NM_002582.4(PARN):c.1192+4C>T
|
rs185546844
|
0.00018
|
NM_198253.3(TERT):c.597C>T (p.Cys199=)
|
rs751029411
|
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_002458.3(MUC5B):c.2725G>A (p.Asp909Asn)
|
rs80298911
|
0.00017
|
NM_002582.4(PARN):c.1213A>G (p.Lys405Glu)
|
rs548716060
|
0.00017
|
NM_002582.4(PARN):c.978A>G (p.Lys326=)
|
rs200678657
|
0.00017
|
NM_001089.3(ABCA3):c.1913G>A (p.Arg638His)
|
rs145269995
|
0.00016
|
NM_001283009.2(RTEL1):c.1800+15G>A
|
rs371760783
|
0.00016
|
NM_001283009.2(RTEL1):c.1830C>T (p.Ala610=)
|
rs140738232
|
0.00016
|
NM_001283009.2(RTEL1):c.2265+13C>G
|
rs369694643
|
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_001283009.2(RTEL1):c.3174C>T (p.His1058=)
|
rs146247083
|
0.00016
|
NM_198253.3(TERT):c.2131-14C>T
|
rs761187544
|
0.00016
|
NM_198253.3(TERT):c.2371G>A (p.Val791Ile)
|
rs141425941
|
0.00016
|
NM_198253.3(TERT):c.2582+17C>T
|
rs149583527
|
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_198253.3(TERT):c.642G>A (p.Leu214=)
|
rs549656839
|
0.00015
|
NM_001283009.2(RTEL1):c.1596-9C>T
|
rs200803729
|
0.00014
|
NM_001283009.2(RTEL1):c.1713G>A (p.Glu571=)
|
rs141229183
|
0.00014
|
NM_001283009.2(RTEL1):c.2026-20C>T
|
rs369387432
|
0.00014
|
NM_001283009.2(RTEL1):c.3361C>T (p.Arg1121Cys)
|
rs374441172
|
0.00014
|
NM_198253.3(TERT):c.645C>T (p.Gly215=)
|
rs768426236
|
0.00014
|
NM_198253.3(TERT):c.885C>T (p.Ser295=)
|
rs367957748
|
0.00014
|
NM_001283009.2(RTEL1):c.208C>T (p.Arg70Cys)
|
rs778775766
|
0.00013
|
NM_001283009.2(RTEL1):c.2414-15C>T
|
rs369129770
|
0.00013
|
NM_001283009.2(RTEL1):c.2534C>T (p.Ala845Val)
|
rs371852881
|
0.00013
|
NM_002582.4(PARN):c.1193-8T>G
|
rs372257813
|
0.00013
|
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly)
|
rs776981958
|
0.00013
|
NM_198253.3(TERT):c.2370C>T (p.Val790=)
|
rs376251639
|
0.00013
|
NM_198253.3(TERT):c.2383-15C>T
|
rs574645600
|
0.00013
|
NM_001089.3(ABCA3):c.2857G>A (p.Asp953Asn)
|
rs138092785
|
0.00012
|
NM_001283009.2(RTEL1):c.1806C>T (p.Ile602=)
|
rs202119059
|
0.00012
|
NM_001283009.2(RTEL1):c.1879-16C>A
|
rs373555734
|
0.00012
|
NM_001283009.2(RTEL1):c.2026-19G>A
|
rs373125587
|
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_001317778.2(SFTPC):c.*193C>A
|
rs886062816
|
0.00012
|
NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro)
|
rs202145169
|
0.00012
|
NM_001317778.2(SFTPC):c.552C>T (p.Gly184=)
|
rs529959941
|
0.00012
|
NM_003018.3(SFTPC):c.-56_-55dup
|
rs545529507
|
0.00012
|
NM_198253.3(TERT):c.1769+15C>T
|
rs201844905
|
0.00012
|
NM_198253.3(TERT):c.2076C>A (p.Thr692=)
|
rs748724920
|
0.00012
|
NM_001283009.2(RTEL1):c.1348+20C>T
|
rs375760002
|
0.00011
|
NM_001283009.2(RTEL1):c.2474T>C (p.Val825Ala)
|
rs778102066
|
0.00011
|
NM_001283009.2(RTEL1):c.2851+20C>A
|
rs747329908
|
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_001283009.2(RTEL1):c.891G>A (p.Pro297=)
|
rs771117146
|
0.00011
|
NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr)
|
rs200039720
|
0.00011
|
NM_001317778.2(SFTPC):c.18+12G>A
|
rs202194863
|
0.00011
|
NM_002458.3(MUC5B):c.9849G>A (p.Thr3283=)
|
rs770310208
|
0.00011
|
NM_002582.4(PARN):c.1151A>G (p.Tyr384Cys)
|
rs199551987
|
0.00011
|
NM_002582.4(PARN):c.1405+7C>T
|
rs529494184
|
0.00011
|
NM_002582.4(PARN):c.1613G>C (p.Arg538Pro)
|
rs377199187
|
0.00011
|
NM_198253.3(TERT):c.1770-7A>G
|
rs373713123
|
0.00011
|
NM_198253.3(TERT):c.2079C>T (p.Phe693=)
|
rs371759577
|
0.00011
|
NM_198253.3(TERT):c.2178G>A (p.Thr726=)
|
rs199422288
|
0.00011
|
NM_198253.3(TERT):c.2573G>A (p.Arg858Gln)
|
rs144779807
|
0.00011
|
NM_198253.3(TERT):c.3186C>T (p.Ala1062=)
|
rs201067706
|
0.00011
|
NM_001283009.2(RTEL1):c.2358C>T (p.Thr786=)
|
rs202106904
|
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.477+10T>C
|
rs767872427
|
0.00010
|
NM_001283009.2(RTEL1):c.718A>G (p.Ile240Val)
|
rs141578937
|
0.00010
|
NM_001317778.2(SFTPC):c.176A>G (p.His59Arg)
|
rs201567623
|
0.00010
|
NM_002582.4(PARN):c.1046G>A (p.Arg349Gln)
|
rs201053607
|
0.00010
|
NM_002582.4(PARN):c.1131C>T (p.His377=)
|
rs200644588
|
0.00010
|
NM_002582.4(PARN):c.1572A>G (p.Arg524=)
|
rs370717086
|
0.00010
|
NM_002582.4(PARN):c.703-6T>C
|
rs370304152
|
0.00010
|
NM_198253.3(TERT):c.1656C>T (p.Tyr552=)
|
rs143789839
|
0.00010
|
NM_198253.3(TERT):c.1785G>A (p.Arg595=)
|
rs765708956
|
0.00010
|
NM_198253.3(TERT):c.1983G>A (p.Leu661=)
|
rs375454175
|
0.00010
|
NM_198253.3(TERT):c.2151C>T (p.Tyr717=)
|
rs147261325
|
0.00010
|
NM_198253.3(TERT):c.2475C>T (p.Tyr825=)
|
rs141382603
|
0.00010
|
NM_198253.3(TERT):c.3332C>T (p.Thr1111Met)
|
rs370686937
|
0.00010
|
NM_001089.3(ABCA3):c.3470G>T (p.Ser1157Ile)
|
rs141635976
|
0.00009
|
NM_001283009.2(RTEL1):c.1135+15G>A
|
rs533420625
|
0.00009
|
NM_001283009.2(RTEL1):c.1161C>T (p.Ala387=)
|
rs141241780
|
0.00009
|
NM_001283009.2(RTEL1):c.1357C>T (p.Leu453=)
|
rs1451923572
|
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.2935C>T (p.Arg979Trp)
|
rs144034326
|
0.00009
|
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)
|
rs373740199
|
0.00009
|
NM_001283009.2(RTEL1):c.3064C>G (p.Leu1022Val)
|
rs200933423
|
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_001283009.2(RTEL1):c.393C>T (p.Tyr131=)
|
rs1026158211
|
0.00009
|
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys)
|
rs201765587
|
0.00009
|
NM_002582.4(PARN):c.702+5C>T
|
rs368739970
|
0.00009
|
NM_002582.4(PARN):c.703-13T>C
|
rs537606213
|
0.00009
|
NM_005094.4(SLC27A4):c.504C>A (p.Cys168Ter)
|
rs137853131
|
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.2118G>A (p.Leu706=)
|
rs377030225
|
0.00009
|
NM_198253.3(TERT):c.2214G>A (p.Thr738=)
|
rs200858212
|
0.00009
|
NM_198253.3(TERT):c.2320C>T (p.Arg774Ter)
|
rs770066110
|
0.00009
|
NM_198253.3(TERT):c.2654+15G>A
|
rs372081008
|
0.00009
|
NM_198253.3(TERT):c.3159G>A (p.Gly1053=)
|
rs200002330
|
0.00009
|
NM_198253.3(TERT):c.3164C>T (p.Ser1055Leu)
|
rs201330213
|
0.00009
|
NM_198253.3(TERT):c.3268G>A (p.Val1090Met)
|
rs121918664
|
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_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.2877C>A (p.His959Gln)
|
rs373996455
|
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_002582.4(PARN):c.1405+3A>G
|
rs368839652
|
0.00008
|
NM_198253.3(TERT):c.1392C>T (p.Phe464=)
|
rs186596886
|
0.00008
|
NM_198253.3(TERT):c.2127C>G (p.Val709=)
|
rs765264494
|
0.00008
|
NM_198253.3(TERT):c.2139G>A (p.Val713=)
|
rs775722062
|
0.00008
|
NM_198253.3(TERT):c.3033-14C>T
|
rs375275274
|
0.00008
|
NM_001283009.2(RTEL1):c.1310G>C (p.Arg437Pro)
|
rs537151019
|
0.00007
|
NM_001283009.2(RTEL1):c.1437C>T (p.Ser479=)
|
rs140055045
|
0.00007
|
NM_001283009.2(RTEL1):c.1722+3G>A
|
rs200599544
|
0.00007
|
NM_001283009.2(RTEL1):c.2436C>T (p.Pro812=)
|
rs370202708
|
0.00007
|
NM_001283009.2(RTEL1):c.3343+16G>A
|
rs370395788
|
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_002582.4(PARN):c.1006-11G>A
|
rs746114163
|
0.00007
|
NM_002582.4(PARN):c.1320G>A (p.Leu440=)
|
rs376352894
|
0.00007
|
NM_145307.4(RTKN2):c.952dup (p.Tyr318fs)
|
rs563733406
|
0.00007
|
NM_198253.3(TERT):c.2108C>T (p.Pro703Leu)
|
rs564647937
|
0.00007
|
NM_198253.3(TERT):c.2256T>C (p.His752=)
|
rs745650751
|
0.00007
|
NM_198253.3(TERT):c.2469-7G>A
|
rs753034642
|
0.00007
|
NM_198253.3(TERT):c.3032+8G>A
|
rs746348646
|
0.00007
|
NM_198253.3(TERT):c.3296-5C>T
|
rs371015305
|
0.00007
|
NM_198253.3(TERT):c.569C>T (p.Ala190Val)
|
rs781435225
|
0.00007
|
NM_198253.3(TERT):c.887A>C (p.His296Pro)
|
rs778187343
|
0.00007
|
NM_001283009.2(RTEL1):c.12A>C (p.Ile4=)
|
rs779748543
|
0.00006
|
NM_001283009.2(RTEL1):c.1380C>T (p.Pro460=)
|
rs760887663
|
0.00006
|
NM_001283009.2(RTEL1):c.1800+8C>T
|
rs765664650
|
0.00006
|
NM_001283009.2(RTEL1):c.1851C>T (p.Ala617=)
|
rs748314839
|
0.00006
|
NM_001283009.2(RTEL1):c.195C>T (p.Asp65=)
|
rs752413439
|
0.00006
|
NM_001283009.2(RTEL1):c.2025+8dup
|
rs760972646
|
0.00006
|
NM_001283009.2(RTEL1):c.2157C>T (p.Asp719=)
|
rs752607917
|
0.00006
|
NM_001283009.2(RTEL1):c.2261G>A (p.Arg754Gln)
|
rs141423196
|
0.00006
|
NM_001283009.2(RTEL1):c.2413+8C>T
|
rs758975241
|
0.00006
|
NM_001283009.2(RTEL1):c.2535G>A (p.Ala845=)
|
rs751482700
|
0.00006
|
NM_001283009.2(RTEL1):c.2548G>A (p.Glu850Lys)
|
rs757613157
|
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.3003G>A (p.Ala1001=)
|
rs368070468
|
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.3508C>T (p.Arg1170Trp)
|
rs773894104
|
0.00006
|
NM_001283009.2(RTEL1):c.3509G>A (p.Arg1170Gln)
|
rs375593361
|
0.00006
|
NM_001283009.2(RTEL1):c.3540G>A (p.Lys1180=)
|
rs372877885
|
0.00006
|
NM_001283009.2(RTEL1):c.3753C>T (p.Asp1251=)
|
rs756080962
|
0.00006
|
NM_001283009.2(RTEL1):c.705C>T (p.Arg235=)
|
rs758562350
|
0.00006
|
NM_002582.4(PARN):c.1081+16C>T
|
rs552550807
|
0.00006
|
NM_002582.4(PARN):c.1082-13T>A
|
rs188469919
|
0.00006
|
NM_002582.4(PARN):c.1405+8G>A
|
rs373527624
|
0.00006
|
NM_002582.4(PARN):c.1501G>T (p.Ala501Ser)
|
rs199651788
|
0.00006
|
NM_002582.4(PARN):c.15G>A (p.Arg5=)
|
rs559617389
|
0.00006
|
NM_002582.4(PARN):c.1660C>T (p.Arg554Cys)
|
rs754540436
|
0.00006
|
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs)
|
rs1194089098
|
0.00006
|
NM_002582.4(PARN):c.1773T>G (p.Leu591=)
|
rs528847015
|
0.00006
|
NM_002582.4(PARN):c.328-16G>A
|
rs372305239
|
0.00006
|
NM_002582.4(PARN):c.745C>T (p.Arg249Cys)
|
rs774170618
|
0.00006
|
NM_002582.4(PARN):c.840+4A>G
|
rs777207121
|
0.00006
|
NM_002582.4(PARN):c.917C>T (p.Ala306Val)
|
rs201362263
|
0.00006
|
NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg)
|
rs137853134
|
0.00006
|
NM_198253.3(TERT):c.-57A>C
|
rs878855297
|
0.00006
|
NM_198253.3(TERT):c.1025G>A (p.Arg342Gln)
|
rs773366454
|
0.00006
|
NM_198253.3(TERT):c.129C>T (p.Asp43=)
|
rs772537721
|
0.00006
|
NM_198253.3(TERT):c.159G>C (p.Gln53His)
|
rs1060503006
|
0.00006
|
NM_198253.3(TERT):c.1842C>T (p.Pro614=)
|
rs747157175
|
0.00006
|
NM_198253.3(TERT):c.1936C>T (p.Arg646Cys)
|
rs147521473
|
0.00006
|
NM_198253.3(TERT):c.2130+20G>A
|
rs375125144
|
0.00006
|
NM_198253.3(TERT):c.2177C>T (p.Thr726Met)
|
rs149566858
|
0.00006
|
NM_198253.3(TERT):c.2418C>T (p.Phe806=)
|
rs372497245
|
0.00006
|
NM_198253.3(TERT):c.2541C>T (p.Gly847=)
|
rs770543108
|
0.00006
|
NM_198253.3(TERT):c.2654+10G>A
|
rs375473823
|
0.00006
|
NM_198253.3(TERT):c.2802G>T (p.Leu934=)
|
rs201322872
|
0.00006
|
NM_198253.3(TERT):c.2843+16C>T
|
rs375054298
|
0.00006
|
NM_198253.3(TERT):c.2843+6C>T
|
rs372086160
|
0.00006
|
NM_198253.3(TERT):c.2843+7G>A
|
rs368429405
|
0.00006
|
NM_198253.3(TERT):c.3295+11G>A
|
rs372330958
|
0.00006
|
NM_198253.3(TERT):c.3369G>A (p.Leu1123=)
|
rs529179931
|
0.00006
|
NM_198253.3(TERT):c.737C>T (p.Pro246Leu)
|
rs377315722
|
0.00006
|
NM_198253.3(TERT):c.810C>T (p.Phe270=)
|
rs369812320
|
0.00006
|
NM_198253.3(TERT):c.855G>A (p.Leu285=)
|
rs372185671
|
0.00006
|
NM_001283009.2(RTEL1):c.102+10A>G
|
rs201569343
|
0.00005
|
NM_001283009.2(RTEL1):c.1135C>T (p.Arg379Cys)
|
rs201938707
|
0.00005
|
NM_001283009.2(RTEL1):c.1191+6G>T
|
rs760073413
|
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.1879-4C>T
|
rs753381436
|
0.00005
|
NM_001283009.2(RTEL1):c.2025+10A>T
|
rs770832240
|
0.00005
|
NM_001283009.2(RTEL1):c.2256C>T (p.Ala752=)
|
rs546705390
|
0.00005
|
NM_001283009.2(RTEL1):c.2275C>G (p.Pro759Ala)
|
rs775121139
|
0.00005
|
NM_001283009.2(RTEL1):c.2280C>T (p.Ala760=)
|
rs765015936
|
0.00005
|
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg)
|
rs537754916
|
0.00005
|
NM_001283009.2(RTEL1):c.2318C>G (p.Ala773Gly)
|
rs746270116
|
0.00005
|
NM_001283009.2(RTEL1):c.2413+9G>A
|
rs980022075
|
0.00005
|
NM_001283009.2(RTEL1):c.2637G>A (p.Arg879=)
|
rs1338282928
|
0.00005
|
NM_001283009.2(RTEL1):c.2653-17G>A
|
rs199597161
|
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.3110-19C>T
|
rs765873434
|
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.3277G>A (p.Asp1093Asn)
|
rs767674666
|
0.00005
|
NM_001283009.2(RTEL1):c.3344-4G>A
|
rs367703929
|
0.00005
|
NM_001283009.2(RTEL1):c.3462C>T (p.Ala1154=)
|
rs113188571
|
0.00005
|
NM_001283009.2(RTEL1):c.3592G>A (p.Glu1198Lys)
|
rs771457769
|
0.00005
|
NM_001283009.2(RTEL1):c.3745G>A (p.Ala1249Thr)
|
rs201237264
|
0.00005
|
NM_001283009.2(RTEL1):c.3771C>T (p.Cys1257=)
|
rs368539067
|
0.00005
|
NM_001283009.2(RTEL1):c.3823-14C>T
|
rs536966266
|
0.00005
|
NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr)
|
rs746411863
|
0.00005
|
NM_001283009.2(RTEL1):c.738C>T (p.Val246=)
|
rs569303047
|
0.00005
|
NM_002582.4(PARN):c.1655A>G (p.Tyr552Cys)
|
rs375813873
|
0.00005
|
NM_002582.4(PARN):c.168G>C (p.Lys56Asn)
|
rs375964590
|
0.00005
|
NM_002582.4(PARN):c.1891A>G (p.Thr631Ala)
|
rs200677089
|
0.00005
|
NM_002582.4(PARN):c.19+4C>T
|
rs748893191
|
0.00005
|
NM_002582.4(PARN):c.407A>T (p.Gln136Leu)
|
rs374762200
|
0.00005
|
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser)
|
rs143148040
|
0.00005
|
NM_198253.3(TERT):c.1769+13C>T
|
rs760246680
|
0.00005
|
NM_198253.3(TERT):c.2141C>T (p.Thr714Met)
|
rs772441504
|
0.00005
|
NM_198253.3(TERT):c.2169C>T (p.Asp723=)
|
rs368762140
|
0.00005
|
NM_198253.3(TERT):c.2283C>T (p.Ser761=)
|
rs370808390
|
0.00005
|
NM_198253.3(TERT):c.2287-5G>A
|
rs561426406
|
0.00005
|
NM_198253.3(TERT):c.2970+16G>A
|
rs563777532
|
0.00005
|
NM_198253.3(TERT):c.297C>T (p.Phe99=)
|
rs746607875
|
0.00005
|
NM_198253.3(TERT):c.3302C>T (p.Thr1101Met)
|
rs764602705
|
0.00005
|
NM_198253.3(TERT):c.555G>C (p.Arg185=)
|
rs777633830
|
0.00005
|
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.1038-6C>T
|
rs776111372
|
0.00004
|
NM_001283009.2(RTEL1):c.1135+14C>T
|
rs780834418
|
0.00004
|
NM_001283009.2(RTEL1):c.1140T>C (p.Ala380=)
|
rs1320301703
|
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.1267-9C>T
|
rs755986498
|
0.00004
|
NM_001283009.2(RTEL1):c.1443G>A (p.Thr481=)
|
rs762716598
|
0.00004
|
NM_001283009.2(RTEL1):c.147G>A (p.Thr49=)
|
rs114124243
|
0.00004
|
NM_001283009.2(RTEL1):c.1500G>A (p.Leu500=)
|
rs1229562658
|
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.1636+15T>C
|
rs368333990
|
0.00004
|
NM_001283009.2(RTEL1):c.171G>T (p.Leu57=)
|
rs769885188
|
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.2061G>A (p.Ala687=)
|
rs201842671
|
0.00004
|
NM_001283009.2(RTEL1):c.2063C>G (p.Ser688Cys)
|
rs773265745
|
0.00004
|
NM_001283009.2(RTEL1):c.2085C>T (p.Ile695=)
|
rs774642602
|
0.00004
|
NM_001283009.2(RTEL1):c.2142-15A>G
|
rs762029946
|
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.2414-20G>A
|
rs376268681
|
0.00004
|
NM_001283009.2(RTEL1):c.2427C>T (p.Ala809=)
|
rs767770069
|
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.2553G>A (p.Glu851=)
|
rs779115892
|
0.00004
|
NM_001283009.2(RTEL1):c.2556+14G>A
|
rs1176602345
|
0.00004
|
NM_001283009.2(RTEL1):c.2579C>T (p.Ser860Phe)
|
rs772872062
|
0.00004
|
NM_001283009.2(RTEL1):c.259T>A (p.Ser87Thr)
|
rs543685758
|
0.00004
|
NM_001283009.2(RTEL1):c.2624G>A (p.Arg875Lys)
|
rs200565373
|
0.00004
|
NM_001283009.2(RTEL1):c.2761G>C (p.Asp921His)
|
rs765668627
|
0.00004
|
NM_001283009.2(RTEL1):c.2851+13G>A
|
rs368058305
|
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.2999C>T (p.Thr1000Met)
|
rs201560152
|
0.00004
|
NM_001283009.2(RTEL1):c.3075C>T (p.Gly1025=)
|
rs766455566
|
0.00004
|
NM_001283009.2(RTEL1):c.3109+10T>C
|
rs759931400
|
0.00004
|
NM_001283009.2(RTEL1):c.3177C>T (p.Ala1059=)
|
rs539800902
|
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.3409G>A (p.Gly1137Ser)
|
rs202193792
|
0.00004
|
NM_001283009.2(RTEL1):c.3437C>T (p.Pro1146Leu)
|
rs749331637
|
0.00004
|
NM_001283009.2(RTEL1):c.3479C>T (p.Thr1160Ile)
|
rs754781364
|
0.00004
|
NM_001283009.2(RTEL1):c.3513C>T (p.Ser1171=)
|
rs138738109
|
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.380G>A (p.Arg127Gln)
|
rs769163032
|
0.00004
|
NM_001283009.2(RTEL1):c.3840A>G (p.Pro1280=)
|
rs759916800
|
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.666A>G (p.Ile222Met)
|
rs373656372
|
0.00004
|
NM_001283009.2(RTEL1):c.750C>T (p.Asp250=)
|
rs777405867
|
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.954G>A (p.Leu318=)
|
rs780262316
|
0.00004
|
NM_001283009.2(RTEL1):c.987C>T (p.Ile329=)
|
rs763882822
|
0.00004
|
NM_001283009.2(RTEL1):c.988G>A (p.Asp330Asn)
|
rs753838163
|
0.00004
|
NM_001317778.2(SFTPC):c.303C>T (p.Leu101=)
|
rs370825102
|
0.00004
|
NM_002582.4(PARN):c.1081+17G>A
|
rs772169396
|
0.00004
|
NM_002582.4(PARN):c.1082-9T>C
|
rs750247475
|
0.00004
|
NM_002582.4(PARN):c.1101A>G (p.Pro367=)
|
rs199737339
|
0.00004
|
NM_002582.4(PARN):c.1330C>T (p.Arg444Cys)
|
rs765981944
|
0.00004
|
NM_002582.4(PARN):c.19A>C (p.Asn7His)
|
rs1371498176
|
0.00004
|
NM_002582.4(PARN):c.245+15C>T
|
rs372872068
|
0.00004
|
NM_002582.4(PARN):c.327+10A>G
|
rs773687682
|
0.00004
|
NM_002582.4(PARN):c.327+7A>C
|
rs1376159353
|
0.00004
|
NM_002582.4(PARN):c.383G>A (p.Arg128Gln)
|
rs778795386
|
0.00004
|
NM_002582.4(PARN):c.448C>T (p.Arg150Cys)
|
rs777558836
|
0.00004
|
NM_002582.4(PARN):c.482A>G (p.Tyr161Cys)
|
rs201990148
|
0.00004
|
NM_002582.4(PARN):c.530A>G (p.Gln177Arg)
|
rs772994032
|
0.00004
|
NM_002582.4(PARN):c.554+16A>G
|
rs757429918
|
0.00004
|
NM_002582.4(PARN):c.619G>A (p.Gly207Arg)
|
rs373203553
|
0.00004
|
NM_002582.4(PARN):c.659+19T>C
|
rs989916354
|
0.00004
|
NM_002582.4(PARN):c.692A>G (p.Glu231Gly)
|
rs757910862
|
0.00004
|
NM_002582.4(PARN):c.840G>A (p.Ser280=)
|
rs200026431
|
0.00004
|
NM_002582.4(PARN):c.877G>A (p.Val293Ile)
|
rs758441481
|
0.00004
|
NM_002582.4(PARN):c.918+18C>T
|
rs751944132
|
0.00004
|
NM_198253.3(TERT):c.1552G>T (p.Ala518Ser)
|
rs551522837
|
0.00004
|
NM_198253.3(TERT):c.1760T>C (p.Ile587Thr)
|
rs148882731
|
0.00004
|
NM_198253.3(TERT):c.1829G>A (p.Arg610Gln)
|
rs776763536
|
0.00004
|
NM_198253.3(TERT):c.1949G>A (p.Arg650Lys)
|
rs190125817
|
0.00004
|
NM_198253.3(TERT):c.2009C>T (p.Ala670Val)
|
rs767382450
|
0.00004
|
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)
|
rs199422297
|
0.00004
|
NM_198253.3(TERT):c.2188G>A (p.Ala730Thr)
|
rs761116773
|
0.00004
|
NM_198253.3(TERT):c.2255A>G (p.His752Arg)
|
rs375699185
|
0.00004
|
NM_198253.3(TERT):c.2263G>A (p.Val755Ile)
|
rs576633619
|
0.00004
|
NM_198253.3(TERT):c.2286+11C>T
|
rs765739078
|
0.00004
|
NM_198253.3(TERT):c.2313G>A (p.Pro771=)
|
rs199770141
|
0.00004
|
NM_198253.3(TERT):c.2328C>T (p.Phe776=)
|
rs748248614
|
0.00004
|
NM_198253.3(TERT):c.2368G>A (p.Val790Ile)
|
rs371413388
|
0.00004
|
NM_198253.3(TERT):c.2469-9C>T
|
rs764029536
|
0.00004
|
NM_198253.3(TERT):c.2576G>A (p.Arg859Gln)
|
rs755183437
|
0.00004
|
NM_198253.3(TERT):c.2580C>T (p.Asp860=)
|
rs751752830
|
0.00004
|
NM_198253.3(TERT):c.2582+20del
|
rs766810802
|
0.00004
|
NM_198253.3(TERT):c.2652C>T (p.Leu884=)
|
rs374309472
|
0.00004
|
NM_198253.3(TERT):c.2733C>T (p.Asp911=)
|
rs768646695
|
0.00004
|
NM_198253.3(TERT):c.2750C>T (p.Thr917Met)
|
rs779102560
|
0.00004
|
NM_198253.3(TERT):c.2764A>T (p.Met922Leu)
|
rs554229004
|
0.00004
|
NM_198253.3(TERT):c.2793C>T (p.Cys931=)
|
rs764925909
|
0.00004
|
NM_198253.3(TERT):c.2946T>C (p.Cys982=)
|
rs201689770
|
0.00004
|
NM_198253.3(TERT):c.3032+19G>A
|
rs771262935
|
0.00004
|
NM_198253.3(TERT):c.3032+6C>T
|
rs1405075700
|
0.00004
|
NM_198253.3(TERT):c.3089C>G (p.Thr1030Arg)
|
rs377419542
|
0.00004
|
NM_198253.3(TERT):c.3117G>A (p.Thr1039=)
|
rs773595628
|
0.00004
|
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)
|
rs373400596
|
0.00004
|
NM_198253.3(TERT):c.3180C>T (p.Gly1060=)
|
rs202166769
|
0.00004
|
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu)
|
rs376255453
|
0.00004
|
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met)
|
rs199422306
|
0.00004
|
NM_198253.3(TERT):c.553C>T (p.Arg185Trp)
|
rs770436206
|
0.00004
|
NM_001283009.2(RTEL1):c.103-13G>A
|
rs183862736
|
0.00003
|
NM_001283009.2(RTEL1):c.1038-18C>T
|
rs1555903293
|
0.00003
|
NM_001283009.2(RTEL1):c.1188C>A (p.Ile396=)
|
rs766857757
|
0.00003
|
NM_001283009.2(RTEL1):c.1215C>T (p.Ser405=)
|
rs368407107
|
0.00003
|
NM_001283009.2(RTEL1):c.1225C>G (p.Pro409Ala)
|
rs371603433
|
0.00003
|
NM_001283009.2(RTEL1):c.1236A>G (p.Pro412=)
|
rs914576910
|
0.00003
|
NM_001283009.2(RTEL1):c.1294C>T (p.Arg432Trp)
|
rs748434559
|
0.00003
|
NM_001283009.2(RTEL1):c.1407C>G (p.Arg469=)
|
rs1466628519
|
0.00003
|
NM_001283009.2(RTEL1):c.1452G>A (p.Pro484=)
|
rs201307924
|
0.00003
|
NM_001283009.2(RTEL1):c.1482-13T>C
|
rs201072205
|
0.00003
|
NM_001283009.2(RTEL1):c.1545C>T (p.Val515=)
|
rs777040365
|
0.00003
|
NM_001283009.2(RTEL1):c.1637-18C>T
|
rs774306865
|
0.00003
|
NM_001283009.2(RTEL1):c.168G>A (p.Thr56=)
|
rs776722400
|
0.00003
|
NM_001283009.2(RTEL1):c.1871G>A (p.Arg624Gln)
|
rs753779060
|
0.00003
|
NM_001283009.2(RTEL1):c.1908G>A (p.Thr636=)
|
rs779437642
|
0.00003
|
NM_001283009.2(RTEL1):c.1963C>T (p.Arg655Trp)
|
rs764349649
|
0.00003
|
NM_001283009.2(RTEL1):c.2026-15C>T
|
rs767991978
|
0.00003
|
NM_001283009.2(RTEL1):c.2145C>T (p.Phe715=)
|
rs762607146
|
0.00003
|
NM_001283009.2(RTEL1):c.2306G>A (p.Arg769His)
|
rs369014080
|
0.00003
|
NM_001283009.2(RTEL1):c.2343C>T (p.Gly781=)
|
rs766185797
|
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.2692C>T (p.Leu898Phe)
|
rs555482478
|
0.00003
|
NM_001283009.2(RTEL1):c.2782T>G (p.Phe928Val)
|
rs953069213
|
0.00003
|
NM_001283009.2(RTEL1):c.2851+9G>C
|
rs778092060
|
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.3109+19G>A
|
rs369417111
|
0.00003
|
NM_001283009.2(RTEL1):c.3109+9C>T
|
rs376840588
|
0.00003
|
NM_001283009.2(RTEL1):c.3219C>T (p.Ser1073=)
|
rs376151757
|
0.00003
|
NM_001283009.2(RTEL1):c.3487G>T (p.Ala1163Ser)
|
rs550764571
|
0.00003
|
NM_001283009.2(RTEL1):c.3503C>T (p.Pro1168Leu)
|
rs376829126
|
0.00003
|
NM_001283009.2(RTEL1):c.3521C>T (p.Thr1174Ile)
|
rs201992738
|
0.00003
|
NM_001283009.2(RTEL1):c.3549C>T (p.Ser1183=)
|
rs775274392
|
0.00003
|
NM_001283009.2(RTEL1):c.3588C>T (p.Gly1196=)
|
rs757618919
|
0.00003
|
NM_001283009.2(RTEL1):c.3704G>A (p.Gly1235Asp)
|
rs942254441
|
0.00003
|
NM_001283009.2(RTEL1):c.3849C>T (p.His1283=)
|
rs772636396
|
0.00003
|
NM_001283009.2(RTEL1):c.3852C>T (p.Thr1284=)
|
rs149236681
|
0.00003
|
NM_001283009.2(RTEL1):c.3885C>T (p.Phe1295=)
|
rs756251493
|
0.00003
|
NM_001283009.2(RTEL1):c.396-12C>G
|
rs749705949
|
0.00003
|
NM_001283009.2(RTEL1):c.396-19C>T
|
rs767850154
|
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.462G>A (p.Glu154=)
|
rs766637626
|
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.709G>A (p.Ala237Thr)
|
rs1023502136
|
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_001283009.2(RTEL1):c.901G>A (p.Ala301Thr)
|
rs201365106
|
0.00003
|
NM_001317778.2(SFTPC):c.*171G>A
|
rs1352249630
|
0.00003
|
NM_002582.4(PARN):c.1193-4T>C
|
rs913658784
|
0.00003
|
NM_002582.4(PARN):c.1347T>C (p.His449=)
|
rs772723061
|
0.00003
|
NM_002582.4(PARN):c.1527T>C (p.Tyr509=)
|
rs752381488
|
0.00003
|
NM_002582.4(PARN):c.1637A>G (p.Tyr546Cys)
|
rs752082579
|
0.00003
|
NM_002582.4(PARN):c.1691T>C (p.Val564Ala)
|
rs200433771
|
0.00003
|
NM_002582.4(PARN):c.178-9C>A
|
rs779459015
|
0.00003
|
NM_002582.4(PARN):c.1791T>C (p.Cys597=)
|
rs751632900
|
0.00003
|
NM_002582.4(PARN):c.1800C>G (p.Pro600=)
|
rs766731547
|
0.00003
|
NM_002582.4(PARN):c.245+19C>T
|
rs762440317
|
0.00003
|
NM_002582.4(PARN):c.27G>A (p.Lys9=)
|
rs746897251
|
0.00003
|
NM_002582.4(PARN):c.411A>G (p.Glu137=)
|
rs368804005
|
0.00003
|
NM_002582.4(PARN):c.459G>A (p.Ala153=)
|
rs960463679
|
0.00003
|
NM_002582.4(PARN):c.540T>C (p.Phe180=)
|
rs375818973
|
0.00003
|
NM_002582.4(PARN):c.581G>A (p.Ser194Asn)
|
rs374622245
|
0.00003
|
NM_198253.3(TERT):c.1099G>T (p.Gly367Cys)
|
rs1751163506
|
0.00003
|
NM_198253.3(TERT):c.1142G>C (p.Arg381Pro)
|
rs777343359
|
0.00003
|
NM_198253.3(TERT):c.1176G>C (p.Leu392=)
|
rs1233765307
|
0.00003
|
NM_198253.3(TERT):c.1270G>A (p.Gly424Ser)
|
rs374180689
|
0.00003
|
NM_198253.3(TERT):c.1393G>C (p.Val465Leu)
|
rs758110675
|
0.00003
|
NM_198253.3(TERT):c.1449C>T (p.Asn483=)
|
rs761174773
|
0.00003
|
NM_198253.3(TERT):c.1465A>C (p.Arg489=)
|
rs201990815
|
0.00003
|
NM_198253.3(TERT):c.150G>A (p.Leu50=)
|
rs886044153
|
0.00003
|
NM_198253.3(TERT):c.1769+16G>A
|
rs202108457
|
0.00003
|
NM_198253.3(TERT):c.1770-11C>G
|
rs747085187
|
0.00003
|
NM_198253.3(TERT):c.1887G>A (p.Gly629=)
|
rs764318596
|
0.00003
|
NM_198253.3(TERT):c.193C>G (p.Pro65Ala)
|
rs544215765
|
0.00003
|
NM_198253.3(TERT):c.1951-5G>A
|
rs770214413
|
0.00003
|
NM_198253.3(TERT):c.1957C>T (p.Arg653Cys)
|
rs372272356
|
0.00003
|
NM_198253.3(TERT):c.2010G>A (p.Ala670=)
|
rs759843505
|
0.00003
|
NM_198253.3(TERT):c.2012G>A (p.Arg671Gln)
|
rs774381540
|
0.00003
|
NM_198253.3(TERT):c.2052C>T (p.Asp684=)
|
rs768948796
|
0.00003
|
NM_198253.3(TERT):c.2131-17C>T
|
rs373383991
|
0.00003
|
NM_198253.3(TERT):c.2145C>T (p.Gly715=)
|
rs769467251
|
0.00003
|
NM_198253.3(TERT):c.2154C>T (p.Asp718=)
|
rs377437136
|
0.00003
|
NM_198253.3(TERT):c.2190C>T (p.Ala730=)
|
rs138128892
|
0.00003
|
NM_198253.3(TERT):c.2221G>T (p.Val741Leu)
|
rs150819225
|
0.00003
|
NM_198253.3(TERT):c.2235C>T (p.Ala745=)
|
rs777869512
|
0.00003
|
NM_198253.3(TERT):c.2262C>T (p.His754=)
|
rs778622091
|
0.00003
|
NM_198253.3(TERT):c.2301A>G (p.Thr767=)
|
rs374592280
|
0.00003
|
NM_198253.3(TERT):c.2354C>G (p.Pro785Arg)
|
rs483352771
|
0.00003
|
NM_198253.3(TERT):c.2387C>T (p.Ser796Phe)
|
rs369810792
|
0.00003
|
NM_198253.3(TERT):c.2422G>A (p.Val808Ile)
|
rs200119385
|
0.00003
|
NM_198253.3(TERT):c.2432G>A (p.Arg811His)
|
rs552708120
|
0.00003
|
NM_198253.3(TERT):c.2449G>A (p.Ala817Thr)
|
rs778051907
|
0.00003
|
NM_198253.3(TERT):c.2468+16A>G
|
rs765076864
|
0.00003
|
NM_198253.3(TERT):c.2496G>A (p.Pro832=)
|
rs763470933
|
0.00003
|
NM_198253.3(TERT):c.2583-7A>G
|
rs1060504796
|
0.00003
|
NM_198253.3(TERT):c.2643A>G (p.Lys881=)
|
rs375558251
|
0.00003
|
NM_198253.3(TERT):c.2751G>A (p.Thr917=)
|
rs375200599
|
0.00003
|
NM_198253.3(TERT):c.2971-10G>T
|
rs878855303
|
0.00003
|
NM_198253.3(TERT):c.3033-13G>A
|
rs746630679
|
0.00003
|
NM_198253.3(TERT):c.3110C>G (p.Ser1037Cys)
|
rs1060503001
|
0.00003
|
NM_198253.3(TERT):c.3116C>T (p.Thr1039Met)
|
rs763381198
|
0.00003
|
NM_198253.3(TERT):c.3153C>T (p.Asn1051=)
|
rs771025266
|
0.00003
|
NM_198253.3(TERT):c.3157+15C>T
|
rs1291819720
|
0.00003
|
NM_198253.3(TERT):c.3201C>T (p.Ser1067=)
|
rs755223754
|
0.00003
|
NM_198253.3(TERT):c.3267C>T (p.Tyr1089=)
|
rs759883263
|
0.00003
|
NM_198253.3(TERT):c.3276C>T (p.Leu1092=)
|
rs368551449
|
0.00003
|
NM_198253.3(TERT):c.536G>T (p.Gly179Val)
|
rs771590775
|
0.00003
|
NM_198253.3(TERT):c.611A>T (p.Asn204Ile)
|
rs764473257
|
0.00003
|
NM_198253.3(TERT):c.618C>T (p.Ser206=)
|
rs759142412
|
0.00003
|
NM_198253.3(TERT):c.751G>A (p.Val251Ile)
|
rs776569822
|
0.00003
|
NM_198253.3(TERT):c.816G>A (p.Val272=)
|
rs765999804
|
0.00003
|
NM_198253.3(TERT):c.834C>A (p.Pro278=)
|
rs375423906
|
0.00003
|
NM_198253.3(TERT):c.859G>A (p.Gly287Ser)
|
rs746095609
|
0.00003
|
NM_198253.3(TERT):c.863C>T (p.Ala288Val)
|
rs774657340
|
0.00003
|
NM_198253.3(TERT):c.968C>G (p.Pro323Arg)
|
rs139342764
|
0.00003
|
NM_198253.3(TERT):c.976G>A (p.Ala326Thr)
|
rs1030156757
|
0.00003
|
NM_001283009.2(RTEL1):c.103-7C>T
|
rs746078784
|
0.00002
|
NM_001283009.2(RTEL1):c.1032A>G (p.Pro344=)
|
rs771559773
|
0.00002
|
NM_001283009.2(RTEL1):c.1228G>T (p.Gly410Cys)
|
rs866955014
|
0.00002
|
NM_001283009.2(RTEL1):c.1266+15C>T
|
rs749890574
|
0.00002
|
NM_001283009.2(RTEL1):c.1266+3A>G
|
rs889856101
|
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.1413C>T (p.Gly471=)
|
rs373058034
|
0.00002
|
NM_001283009.2(RTEL1):c.1477C>G (p.Gln493Glu)
|
rs372871657
|
0.00002
|
NM_001283009.2(RTEL1):c.1603G>A (p.Glu535Lys)
|
rs1367858373
|
0.00002
|
NM_001283009.2(RTEL1):c.1636+10C>T
|
rs915525803
|
0.00002
|
NM_001283009.2(RTEL1):c.1659C>A (p.Pro553=)
|
rs758544821
|
0.00002
|
NM_001283009.2(RTEL1):c.1661A>G (p.Tyr554Cys)
|
rs1046172136
|
0.00002
|
NM_001283009.2(RTEL1):c.1722+11C>T
|
rs996447070
|
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.1800+3C>T
|
rs764757029
|
0.00002
|
NM_001283009.2(RTEL1):c.1845C>T (p.Thr615=)
|
rs747169885
|
0.00002
|
NM_001283009.2(RTEL1):c.1896C>T (p.Asp632=)
|
rs201130278
|
0.00002
|
NM_001283009.2(RTEL1):c.1948C>T (p.Pro650Ser)
|
rs768489017
|
0.00002
|
NM_001283009.2(RTEL1):c.1951C>T (p.Arg651Cys)
|
rs765231471
|
0.00002
|
NM_001283009.2(RTEL1):c.1971C>T (p.Val657=)
|
rs778883996
|
0.00002
|
NM_001283009.2(RTEL1):c.2115C>T (p.Tyr705=)
|
rs756940973
|
0.00002
|
NM_001283009.2(RTEL1):c.2141+12C>T
|
rs768285604
|
0.00002
|
NM_001283009.2(RTEL1):c.2142-7C>G
|
rs879582201
|
0.00002
|
NM_001283009.2(RTEL1):c.2154C>T (p.Ala718=)
|
rs149899386
|
0.00002
|
NM_001283009.2(RTEL1):c.219C>T (p.Ala73=)
|
rs781340943
|
0.00002
|
NM_001283009.2(RTEL1):c.2413+5G>A
|
rs750836127
|
0.00002
|
NM_001283009.2(RTEL1):c.2414-14G>A
|
rs770111225
|
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.2557-14T>C
|
rs767407237
|
0.00002
|
NM_001283009.2(RTEL1):c.2559C>T (p.Ala853=)
|
rs758448983
|
0.00002
|
NM_001283009.2(RTEL1):c.2601G>A (p.Pro867=)
|
rs201545339
|
0.00002
|
NM_001283009.2(RTEL1):c.2638C>G (p.Leu880Val)
|
rs376204071
|
0.00002
|
NM_001283009.2(RTEL1):c.2652+10C>T
|
rs200550037
|
0.00002
|
NM_001283009.2(RTEL1):c.2652G>A (p.Pro884=)
|
rs201784607
|
0.00002
|
NM_001283009.2(RTEL1):c.2679G>A (p.Thr893=)
|
rs754389601
|
0.00002
|
NM_001283009.2(RTEL1):c.2753C>T (p.Ala918Val)
|
rs1234595238
|
0.00002
|
NM_001283009.2(RTEL1):c.2811C>T (p.Pro937=)
|
rs1181105745
|
0.00002
|
NM_001283009.2(RTEL1):c.2852-15C>T
|
rs756533094
|
0.00002
|
NM_001283009.2(RTEL1):c.2988C>T (p.Pro996=)
|
rs150932919
|
0.00002
|
NM_001283009.2(RTEL1):c.2993-14C>A
|
rs764487111
|
0.00002
|
NM_001283009.2(RTEL1):c.3002C>T (p.Ala1001Val)
|
rs150072861
|
0.00002
|
NM_001283009.2(RTEL1):c.3018G>T (p.Leu1006=)
|
rs374853062
|
0.00002
|
NM_001283009.2(RTEL1):c.3030G>A (p.Thr1010=)
|
rs6011036
|
0.00002
|
NM_001283009.2(RTEL1):c.3089C>T (p.Ser1030Leu)
|
rs756579704
|
0.00002
|
NM_001283009.2(RTEL1):c.30C>T (p.Thr10=)
|
rs746437645
|
0.00002
|
NM_001283009.2(RTEL1):c.3102C>T (p.Pro1034=)
|
rs201356718
|
0.00002
|
NM_001283009.2(RTEL1):c.3202C>T (p.Arg1068Cys)
|
rs762640318
|
0.00002
|
NM_001283009.2(RTEL1):c.3270C>T (p.Asp1090=)
|
rs115613958
|
0.00002
|
NM_001283009.2(RTEL1):c.3300C>T (p.Ala1100=)
|
rs530713870
|
0.00002
|
NM_001283009.2(RTEL1):c.3344-16T>C
|
rs763563694
|
0.00002
|
NM_001283009.2(RTEL1):c.3345G>A (p.Arg1115=)
|
rs752407024
|
0.00002
|
NM_001283009.2(RTEL1):c.3408C>T (p.Thr1136=)
|
rs752386852
|
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.3701C>T (p.Pro1234Leu)
|
rs537878959
|
0.00002
|
NM_001283009.2(RTEL1):c.3708G>A (p.Gly1236=)
|
rs754318726
|
0.00002
|
NM_001283009.2(RTEL1):c.3712C>T (p.Leu1238Phe)
|
rs765763485
|
0.00002
|
NM_001283009.2(RTEL1):c.3729G>T (p.Val1243=)
|
rs370084961
|
0.00002
|
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg)
|
rs587777037
|
0.00002
|
NM_001283009.2(RTEL1):c.3751G>A (p.Asp1251Asn)
|
rs773592856
|
0.00002
|
NM_001283009.2(RTEL1):c.3855C>T (p.Ala1285=)
|
rs763834904
|
0.00002
|
NM_001283009.2(RTEL1):c.477+8C>T
|
rs756624959
|
0.00002
|
NM_001283009.2(RTEL1):c.51C>T (p.Pro17=)
|
rs769888088
|
0.00002
|
NM_001283009.2(RTEL1):c.765+11G>A
|
rs771956401
|
0.00002
|
NM_001283009.2(RTEL1):c.765+14G>T
|
rs775345695
|
0.00002
|
NM_001283009.2(RTEL1):c.765+4A>G
|
rs948594061
|
0.00002
|
NM_001283009.2(RTEL1):c.831C>T (p.Asp277=)
|
rs768009058
|
0.00002
|
NM_001283009.2(RTEL1):c.890C>T (p.Pro297Leu)
|
rs748022323
|
0.00002
|
NM_001283009.2(RTEL1):c.8A>C (p.Lys3Thr)
|
rs779282812
|
0.00002
|
NM_001283009.2(RTEL1):c.920-9C>T
|
rs910613998
|
0.00002
|
NM_001283009.2(RTEL1):c.940G>A (p.Asp314Asn)
|
rs758615955
|
0.00002
|
NM_001283009.2(RTEL1):c.970C>T (p.Arg324Cys)
|
rs771452777
|
0.00002
|
NM_001317778.2(SFTPC):c.505G>A (p.Gly169Arg)
|
rs766093799
|
0.00002
|
NM_002458.3(MUC5B):c.9355A>G (p.Thr3119Ala)
|
rs756267644
|
0.00002
|
NM_002582.4(PARN):c.1006-12C>T
|
rs767292858
|
0.00002
|
NM_002582.4(PARN):c.1031C>T (p.Ala344Val)
|
rs374213957
|
0.00002
|
NM_002582.4(PARN):c.1171A>G (p.Ile391Val)
|
rs765070513
|
0.00002
|
NM_002582.4(PARN):c.1192+7A>G
|
rs766337795
|
0.00002
|
NM_002582.4(PARN):c.1250C>G (p.Pro417Arg)
|
rs1451726091
|
0.00002
|
NM_002582.4(PARN):c.1377C>T (p.Ser459=)
|
rs530411927
|
0.00002
|
NM_002582.4(PARN):c.1392T>C (p.Leu464=)
|
rs550989940
|
0.00002
|
NM_002582.4(PARN):c.1406-8G>A
|
rs529177861
|
0.00002
|
NM_002582.4(PARN):c.1458C>G (p.Ser486Arg)
|
rs375177493
|
0.00002
|
NM_002582.4(PARN):c.1513C>T (p.Arg505Trp)
|
rs375185166
|
0.00002
|
NM_002582.4(PARN):c.1768G>C (p.Glu590Gln)
|
rs975097908
|
0.00002
|
NM_002582.4(PARN):c.1842G>A (p.Met614Ile)
|
rs913617123
|
0.00002
|
NM_002582.4(PARN):c.1887T>C (p.Pro629=)
|
rs755932317
|
0.00002
|
NM_002582.4(PARN):c.271T>A (p.Tyr91Asn)
|
rs764315291
|
0.00002
|
NM_002582.4(PARN):c.328-8dup
|
rs778705967
|
0.00002
|
NM_002582.4(PARN):c.345T>C (p.Phe115=)
|
rs201678082
|
0.00002
|
NM_002582.4(PARN):c.34C>T (p.Leu12Phe)
|
rs777848795
|
0.00002
|
NM_002582.4(PARN):c.453A>T (p.Ser151=)
|
rs911902351
|
0.00002
|
NM_002582.4(PARN):c.458C>T (p.Ala153Val)
|
rs371072064
|
0.00002
|
NM_002582.4(PARN):c.55A>G (p.Ile19Val)
|
rs367979521
|
0.00002
|
NM_002582.4(PARN):c.665C>T (p.Pro222Leu)
|
rs770353163
|
0.00002
|
NM_002582.4(PARN):c.710G>A (p.Arg237Gln)
|
rs376992177
|
0.00002
|
NM_002582.4(PARN):c.876C>T (p.Asp292=)
|
rs759199788
|
0.00002
|
NM_002582.4(PARN):c.902A>G (p.Tyr301Cys)
|
rs942688617
|
0.00002
|
NM_173842.3(IL1RN):c.63A>G (p.Ser21=)
|
rs763872895
|
0.00002
|
NM_198253.3(TERT):c.1130G>A (p.Arg377His)
|
rs756954938
|
0.00002
|
NM_198253.3(TERT):c.1164A>G (p.Gln388=)
|
rs377477531
|
0.00002
|
NM_198253.3(TERT):c.1278T>C (p.Cys426=)
|
rs1326706015
|
0.00002
|
NM_198253.3(TERT):c.1327A>G (p.Thr443Ala)
|
rs1030586939
|
0.00002
|
NM_198253.3(TERT):c.1374C>T (p.Pro458=)
|
rs1173874085
|
0.00002
|
NM_198253.3(TERT):c.1422C>T (p.Pro474=)
|
rs139133620
|
0.00002
|
NM_198253.3(TERT):c.144C>T (p.Arg48=)
|
rs746281705
|
0.00002
|
NM_198253.3(TERT):c.146C>G (p.Ala49Gly)
|
rs1060503013
|
0.00002
|
NM_198253.3(TERT):c.1580G>T (p.Gly527Val)
|
rs1006357203
|
0.00002
|
NM_198253.3(TERT):c.1590G>A (p.Pro530=)
|
rs1396912668
|
0.00002
|
NM_198253.3(TERT):c.1593C>T (p.Ala531=)
|
rs146462061
|
0.00002
|
NM_198253.3(TERT):c.1701G>A (p.Thr567=)
|
rs1485820714
|
0.00002
|
NM_198253.3(TERT):c.1791G>A (p.Gln597=)
|
rs377106279
|
0.00002
|
NM_198253.3(TERT):c.1806G>A (p.Ser602=)
|
rs773873942
|
0.00002
|
NM_198253.3(TERT):c.1843G>A (p.Ala615Thr)
|
rs112614087
|
0.00002
|
NM_198253.3(TERT):c.2020G>A (p.Gly674Ser)
|
rs773813809
|
0.00002
|
NM_198253.3(TERT):c.2061C>T (p.His687=)
|
rs370486790
|
0.00002
|
NM_198253.3(TERT):c.2091G>A (p.Val697=)
|
rs377436842
|
0.00002
|
NM_198253.3(TERT):c.2130+9C>T
|
rs769050926
|
0.00002
|
NM_198253.3(TERT):c.2142G>A (p.Thr714=)
|
rs762534978
|
0.00002
|
NM_198253.3(TERT):c.2187C>T (p.Ile729=)
|
rs200819224
|
0.00002
|
NM_198253.3(TERT):c.2228G>A (p.Arg743Gln)
|
rs768168259
|
0.00002
|
NM_198253.3(TERT):c.222G>A (p.Val74=)
|
rs373356928
|
0.00002
|
NM_198253.3(TERT):c.2251G>A (p.Ala751Thr)
|
rs772070672
|
0.00002
|
NM_198253.3(TERT):c.2286+12G>A
|
rs756363405
|
0.00002
|
NM_198253.3(TERT):c.2353C>G (p.Pro785Ala)
|
rs755822641
|
0.00002
|
NM_198253.3(TERT):c.2383-14G>A
|
rs1355213706
|
0.00002
|
NM_198253.3(TERT):c.2383-4G>A
|
rs761513215
|
0.00002
|
NM_198253.3(TERT):c.2388C>T (p.Ser796=)
|
rs950145141
|
0.00002
|
NM_198253.3(TERT):c.2444A>G (p.His815Arg)
|
rs771392980
|
0.00002
|
NM_198253.3(TERT):c.2451C>T (p.Ala817=)
|
rs752794198
|
0.00002
|
NM_198253.3(TERT):c.2640G>A (p.Ala880=)
|
rs754776542
|
0.00002
|
NM_198253.3(TERT):c.2646C>A (p.Thr882=)
|
rs758561541
|
0.00002
|
NM_198253.3(TERT):c.2655-9C>T
|
rs779014470
|
0.00002
|
NM_198253.3(TERT):c.2666G>A (p.Arg889Gln)
|
rs532158398
|
0.00002
|
NM_198253.3(TERT):c.2744G>A (p.Gly915Asp)
|
rs202033269
|
0.00002
|
NM_198253.3(TERT):c.2843+17G>A
|
rs370760096
|
0.00002
|
NM_198253.3(TERT):c.2885G>A (p.Arg962His)
|
rs759490631
|
0.00002
|
NM_198253.3(TERT):c.2886C>T (p.Arg962=)
|
rs542440625
|
0.00002
|
NM_198253.3(TERT):c.2908A>C (p.Met970Leu)
|
rs762647113
|
0.00002
|
NM_198253.3(TERT):c.2971-3T>C
|
rs765078035
|
0.00002
|
NM_198253.3(TERT):c.2988G>A (p.Thr996=)
|
rs776966669
|
0.00002
|
NM_198253.3(TERT):c.3032+18G>A
|
rs768976875
|
0.00002
|
NM_198253.3(TERT):c.3033-18T>C
|
rs763286040
|
0.00002
|
NM_198253.3(TERT):c.3126C>T (p.Leu1042=)
|
rs377570406
|
0.00002
|
NM_198253.3(TERT):c.3240C>T (p.Leu1080=)
|
rs758469915
|
0.00002
|
NM_198253.3(TERT):c.3251G>A (p.Arg1084Gln)
|
rs765787352
|
0.00002
|
NM_198253.3(TERT):c.3304C>A (p.Gln1102Lys)
|
rs1042447238
|
0.00002
|
NM_198253.3(TERT):c.3330G>A (p.Thr1110=)
|
rs772311888
|
0.00002
|
NM_198253.3(TERT):c.3349G>T (p.Ala1117Ser)
|
rs749874887
|
0.00002
|
NM_198253.3(TERT):c.339G>A (p.Glu113=)
|
rs757141480
|
0.00002
|
NM_198253.3(TERT):c.393G>A (p.Leu131=)
|
rs752876848
|
0.00002
|
NM_198253.3(TERT):c.45C>T (p.Arg15=)
|
rs750133706
|
0.00002
|
NM_198253.3(TERT):c.462A>T (p.Ala154=)
|
rs558025297
|
0.00002
|
NM_198253.3(TERT):c.550G>A (p.Ala184Thr)
|
rs773758089
|
0.00002
|
NM_198253.3(TERT):c.592G>A (p.Gly198Arg)
|
rs758442518
|
0.00002
|
NM_198253.3(TERT):c.619G>A (p.Val207Ile)
|
rs943176303
|
0.00002
|
NM_198253.3(TERT):c.636C>T (p.Val212=)
|
rs762440833
|
0.00002
|
NM_198253.3(TERT):c.672C>T (p.Arg224=)
|
rs996032219
|
0.00002
|
NM_198253.3(TERT):c.718C>A (p.Arg240Ser)
|
rs1252662816
|
0.00002
|
NM_198253.3(TERT):c.724G>C (p.Ala242Pro)
|
rs766054124
|
0.00002
|
NM_198253.3(TERT):c.776C>T (p.Pro259Leu)
|
rs775613951
|
0.00002
|
NM_198253.3(TERT):c.786G>A (p.Thr262=)
|
rs1007316528
|
0.00002
|
NM_198253.3(TERT):c.867C>T (p.Leu289=)
|
rs771194908
|
0.00002
|
NM_198253.3(TERT):c.957G>A (p.Thr319=)
|
rs1018341020
|
0.00002
|
NM_001089.3(ABCA3):c.2883C>T (p.Gly961=)
|
rs1298655924
|
0.00001
|
NM_001098668.4(SFTPA2):c.532G>A (p.Val178Met)
|
rs371035540
|
0.00001
|
NM_001283009.2(RTEL1):c.1000C>T (p.Leu334=)
|
rs2090399178
|
0.00001
|
NM_001283009.2(RTEL1):c.1011C>T (p.Asp337=)
|
rs755186853
|
0.00001
|
NM_001283009.2(RTEL1):c.102+16C>G
|
rs765782315
|
0.00001
|
NM_001283009.2(RTEL1):c.1037+1G>T
|
rs895722334
|
0.00001
|
NM_001283009.2(RTEL1):c.1058C>T (p.Ala353Val)
|
rs762936013
|
0.00001
|
NM_001283009.2(RTEL1):c.1059T>C (p.Ala353=)
|
rs774062676
|
0.00001
|
NM_001283009.2(RTEL1):c.105G>A (p.Lys35=)
|
rs894771414
|
0.00001
|
NM_001283009.2(RTEL1):c.1103C>T (p.Ser368Leu)
|
rs765792997
|
0.00001
|
NM_001283009.2(RTEL1):c.1104G>A (p.Ser368=)
|
rs751001291
|
0.00001
|
NM_001283009.2(RTEL1):c.114C>A (p.Gly38=)
|
rs1200738721
|
0.00001
|
NM_001283009.2(RTEL1):c.1157C>T (p.Thr386Met)
|
rs371141081
|
0.00001
|
NM_001283009.2(RTEL1):c.1179G>A (p.Ala393=)
|
rs773272719
|
0.00001
|
NM_001283009.2(RTEL1):c.1183A>G (p.Ile395Val)
|
rs1355147182
|
0.00001
|
NM_001283009.2(RTEL1):c.118C>T (p.Leu40=)
|
rs766794455
|
0.00001
|
NM_001283009.2(RTEL1):c.1191+8C>G
|
rs767844458
|
0.00001
|
NM_001283009.2(RTEL1):c.1192-7C>G
|
rs1436664421
|
0.00001
|
NM_001283009.2(RTEL1):c.1209C>T (p.Asp403=)
|
rs781077567
|
0.00001
|
NM_001283009.2(RTEL1):c.1216G>A (p.Glu406Lys)
|
rs1417269541
|
0.00001
|
NM_001283009.2(RTEL1):c.1251C>T (p.Ala417=)
|
rs776000925
|
0.00001
|
NM_001283009.2(RTEL1):c.1266+11C>T
|
rs2090575166
|
0.00001
|
NM_001283009.2(RTEL1):c.1266+2T>G
|
rs1444392809
|
0.00001
|
NM_001283009.2(RTEL1):c.1267-11G>T
|
rs368818852
|
0.00001
|
NM_001283009.2(RTEL1):c.1272C>T (p.His424=)
|
rs750602767
|
0.00001
|
NM_001283009.2(RTEL1):c.1282G>A (p.Asp428Asn)
|
rs758640195
|
0.00001
|
NM_001283009.2(RTEL1):c.1331C>G (p.Thr444Ser)
|
rs763825991
|
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.1349-10C>T
|
rs769533263
|
0.00001
|
NM_001283009.2(RTEL1):c.1349-12C>G
|
rs1210407904
|
0.00001
|
NM_001283009.2(RTEL1):c.1349-16G>A
|
rs768564368
|
0.00001
|
NM_001283009.2(RTEL1):c.1381G>A (p.Gly461Ser)
|
rs764665173
|
0.00001
|
NM_001283009.2(RTEL1):c.1414G>A (p.Val472Ile)
|
rs941024707
|
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.1482-18C>T
|
rs766676603
|
0.00001
|
NM_001283009.2(RTEL1):c.1494C>T (p.Val498=)
|
rs777373768
|
0.00001
|
NM_001283009.2(RTEL1):c.1506C>T (p.Asn502=)
|
rs749132537
|
0.00001
|
NM_001283009.2(RTEL1):c.150G>C (p.Leu50=)
|
rs1178822970
|
0.00001
|
NM_001283009.2(RTEL1):c.1524G>A (p.Lys508=)
|
rs2090635182
|
0.00001
|
NM_001283009.2(RTEL1):c.1546G>A (p.Val516Ile)
|
rs748223349
|
0.00001
|
NM_001283009.2(RTEL1):c.1560C>T (p.Pro520=)
|
rs766940725
|
0.00001
|
NM_001283009.2(RTEL1):c.1569C>A (p.Ala523=)
|
rs1601163315
|
0.00001
|
NM_001283009.2(RTEL1):c.1595+7G>A
|
rs1464373152
|
0.00001
|
NM_001283009.2(RTEL1):c.1596-4C>T
|
rs778986068
|
0.00001
|
NM_001283009.2(RTEL1):c.1596-5T>C
|
rs1367203448
|
0.00001
|
NM_001283009.2(RTEL1):c.1596-6C>T
|
rs770960415
|
0.00001
|
NM_001283009.2(RTEL1):c.1637-4C>T
|
rs759414555
|
0.00001
|
NM_001283009.2(RTEL1):c.1637-9C>T
|
rs2090642322
|
0.00001
|
NM_001283009.2(RTEL1):c.1641C>T (p.Asn547=)
|
rs144371814
|
0.00001
|
NM_001283009.2(RTEL1):c.1644C>T (p.Ile548=)
|
rs916261853
|
0.00001
|
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys)
|
rs369419645
|
0.00001
|
NM_001283009.2(RTEL1):c.1650C>T (p.Arg550=)
|
rs147825631
|
0.00001
|
NM_001283009.2(RTEL1):c.1677C>T (p.Phe559=)
|
rs374168761
|
0.00001
|
NM_001283009.2(RTEL1):c.1689T>C (p.Tyr563=)
|
rs1487068301
|
0.00001
|
NM_001283009.2(RTEL1):c.1691C>T (p.Pro564Leu)
|
rs1189892333
|
0.00001
|
NM_001283009.2(RTEL1):c.1720C>T (p.Arg574Trp)
|
rs1601164606
|
0.00001
|
NM_001283009.2(RTEL1):c.1722+9C>G
|
rs1344464320
|
0.00001
|
NM_001283009.2(RTEL1):c.1742A>G (p.Lys581Arg)
|
rs376161950
|
0.00001
|
NM_001283009.2(RTEL1):c.1751C>T (p.Ala584Val)
|
rs779562019
|
0.00001
|
NM_001283009.2(RTEL1):c.1789A>G (p.Ser597Gly)
|
rs774400247
|
0.00001
|
NM_001283009.2(RTEL1):c.1794C>T (p.Phe598=)
|
rs1177652366
|
0.00001
|
NM_001283009.2(RTEL1):c.1797C>T (p.Ser599=)
|
rs775716486
|
0.00001
|
NM_001283009.2(RTEL1):c.179G>A (p.Arg60Gln)
|
rs763415620
|
0.00001
|
NM_001283009.2(RTEL1):c.1800+7A>G
|
rs1477588250
|
0.00001
|
NM_001283009.2(RTEL1):c.1801-15C>T
|
rs766762905
|
0.00001
|
NM_001283009.2(RTEL1):c.1824G>A (p.Arg608=)
|
rs1389028462
|
0.00001
|
NM_001283009.2(RTEL1):c.1839G>A (p.Gly613=)
|
rs757075776
|
0.00001
|
NM_001283009.2(RTEL1):c.1862C>T (p.Ala621Val)
|
rs535749230
|
0.00001
|
NM_001283009.2(RTEL1):c.1869C>T (p.Cys623=)
|
rs1405032353
|
0.00001
|
NM_001283009.2(RTEL1):c.1875C>G (p.Gly625=)
|
rs1479553590
|
0.00001
|
NM_001283009.2(RTEL1):c.1877A>G (p.Lys626Arg)
|
rs1018679403
|
0.00001
|
NM_001283009.2(RTEL1):c.1879-10T>C
|
rs1337076899
|
0.00001
|
NM_001283009.2(RTEL1):c.1879-6C>T
|
rs2090674485
|
0.00001
|
NM_001283009.2(RTEL1):c.1887G>A (p.Glu629=)
|
rs1452035267
|
0.00001
|
NM_001283009.2(RTEL1):c.1905C>T (p.Asp635=)
|
rs1204270300
|
0.00001
|
NM_001283009.2(RTEL1):c.1906A>G (p.Thr636Ala)
|
rs749428089
|
0.00001
|
NM_001283009.2(RTEL1):c.1907C>T (p.Thr636Met)
|
rs200847054
|
0.00001
|
NM_001283009.2(RTEL1):c.191G>A (p.Arg64Gln)
|
rs146544609
|
0.00001
|
NM_001283009.2(RTEL1):c.1931C>T (p.Thr644Met)
|
rs1258123825
|
0.00001
|
NM_001283009.2(RTEL1):c.1936C>T (p.Leu646Phe)
|
rs1323023332
|
0.00001
|
NM_001283009.2(RTEL1):c.1941G>A (p.Pro647=)
|
rs149374241
|
0.00001
|
NM_001283009.2(RTEL1):c.1950A>G (p.Pro650=)
|
rs761454817
|
0.00001
|
NM_001283009.2(RTEL1):c.1952G>T (p.Arg651Leu)
|
rs773159241
|
0.00001
|
NM_001283009.2(RTEL1):c.2020G>T (p.Gly674Cys)
|
rs747831615
|
0.00001
|
NM_001283009.2(RTEL1):c.2023C>A (p.Gln675Lys)
|
rs772605324
|
0.00001
|
NM_001283009.2(RTEL1):c.2025+16G>A
|
rs1291271552
|
0.00001
|
NM_001283009.2(RTEL1):c.2026-10C>T
|
rs777334485
|
0.00001
|
NM_001283009.2(RTEL1):c.2026-7C>T
|
rs1447966947
|
0.00001
|
NM_001283009.2(RTEL1):c.2058G>A (p.Gln686=)
|
rs746824222
|
0.00001
|
NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter)
|
rs768188490
|
0.00001
|
NM_001283009.2(RTEL1):c.2090G>T (p.Arg697Leu)
|
rs1176364985
|
0.00001
|
NM_001283009.2(RTEL1):c.2098C>T (p.Arg700Trp)
|
rs1003156687
|
0.00001
|
NM_001283009.2(RTEL1):c.2105G>A (p.Arg702His)
|
rs1035926074
|
0.00001
|
NM_001283009.2(RTEL1):c.2109G>A (p.Gln703=)
|
rs764545169
|
0.00001
|
NM_001283009.2(RTEL1):c.2114A>G (p.Tyr705Cys)
|
rs2090684972
|
0.00001
|
NM_001283009.2(RTEL1):c.2127C>T (p.Phe709=)
|
rs866837044
|
0.00001
|
NM_001283009.2(RTEL1):c.213G>A (p.Lys71=)
|
rs910392571
|
0.00001
|
NM_001283009.2(RTEL1):c.2140A>G (p.Arg714Gly)
|
rs1156625021
|
0.00001
|
NM_001283009.2(RTEL1):c.2141+20A>C
|
rs749402415
|
0.00001
|
NM_001283009.2(RTEL1):c.2141+4C>T
|
rs780002400
|
0.00001
|
NM_001283009.2(RTEL1):c.2142-2A>G
|
rs2090696292
|
0.00001
|
NM_001283009.2(RTEL1):c.2142-4C>T
|
rs762201678
|
0.00001
|
NM_001283009.2(RTEL1):c.2142-5C>T
|
rs776835831
|
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.2170C>T (p.Leu724=)
|
rs779981404
|
0.00001
|
NM_001283009.2(RTEL1):c.2172G>A (p.Leu724=)
|
rs747160558
|
0.00001
|
NM_001283009.2(RTEL1):c.217G>T (p.Ala73Ser)
|
rs774311444
|
0.00001
|
NM_001283009.2(RTEL1):c.2190C>T (p.Pro730=)
|
rs144933599
|
0.00001
|
NM_001283009.2(RTEL1):c.2193C>T (p.His731=)
|
rs762588751
|
0.00001
|
NM_001283009.2(RTEL1):c.2196C>T (p.Val732=)
|
rs1315335415
|
0.00001
|
NM_001283009.2(RTEL1):c.2223C>T (p.Val741=)
|
rs752626736
|
0.00001
|
NM_001283009.2(RTEL1):c.2244C>T (p.Phe748=)
|
rs753746592
|
0.00001
|
NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter)
|
rs377024903
|
0.00001
|
NM_001283009.2(RTEL1):c.2265+7T>G
|
rs749693982
|
0.00001
|
NM_001283009.2(RTEL1):c.2265+8C>T
|
rs771232929
|
0.00001
|
NM_001283009.2(RTEL1):c.2266-16C>T
|
rs749817356
|
0.00001
|
NM_001283009.2(RTEL1):c.2266-3C>T
|
rs200536844
|
0.00001
|
NM_001283009.2(RTEL1):c.2277G>A (p.Pro759=)
|
rs768310963
|
0.00001
|
NM_001283009.2(RTEL1):c.2297C>A (p.Pro766His)
|
rs2090705111
|
0.00001
|
NM_001283009.2(RTEL1):c.230A>G (p.Gln77Arg)
|
rs771462323
|
0.00001
|
NM_001283009.2(RTEL1):c.2336C>T (p.Ser779Leu)
|
rs761805038
|
0.00001
|
NM_001283009.2(RTEL1):c.2346C>G (p.Pro782=)
|
rs753928264
|
0.00001
|
NM_001283009.2(RTEL1):c.2385T>C (p.His795=)
|
rs770647834
|
0.00001
|
NM_001283009.2(RTEL1):c.2403G>A (p.Gln801=)
|
rs1219370345
|
0.00001
|
NM_001283009.2(RTEL1):c.2409C>G (p.Ser803=)
|
rs764351692
|
0.00001
|
NM_001283009.2(RTEL1):c.2409C>T (p.Ser803=)
|
rs764351692
|
0.00001
|
NM_001283009.2(RTEL1):c.2413+16G>A
|
rs542801049
|
0.00001
|
NM_001283009.2(RTEL1):c.2414-10G>A
|
rs372875118
|
0.00001
|
NM_001283009.2(RTEL1):c.2414-17C>G
|
rs779901019
|
0.00001
|
NM_001283009.2(RTEL1):c.2414-9C>T
|
rs763164910
|
0.00001
|
NM_001283009.2(RTEL1):c.2438A>C (p.Glu813Ala)
|
rs756711633
|
0.00001
|
NM_001283009.2(RTEL1):c.2457G>A (p.Glu819=)
|
rs1199472391
|
0.00001
|
NM_001283009.2(RTEL1):c.2460T>C (p.Tyr820=)
|
rs779697253
|
0.00001
|
NM_001283009.2(RTEL1):c.2483G>A (p.Arg828Gln)
|
rs774640608
|
0.00001
|
NM_001283009.2(RTEL1):c.2500C>T (p.Leu834=)
|
rs375507524
|
0.00001
|
NM_001283009.2(RTEL1):c.2507C>G (p.Ala836Gly)
|
rs761063091
|
0.00001
|
NM_001283009.2(RTEL1):c.2556+12G>A
|
rs1432376954
|
0.00001
|
NM_001283009.2(RTEL1):c.2557-6C>T
|
rs1222249904
|
0.00001
|
NM_001283009.2(RTEL1):c.2557-8C>G
|
rs200385247
|
0.00001
|
NM_001283009.2(RTEL1):c.2557-9C>T
|
rs1233346985
|
0.00001
|
NM_001283009.2(RTEL1):c.2562C>T (p.His854=)
|
rs202018259
|
0.00001
|
NM_001283009.2(RTEL1):c.2567G>C (p.Cys856Ser)
|
rs1398820483
|
0.00001
|
NM_001283009.2(RTEL1):c.2568C>G (p.Cys856Trp)
|
rs1465417616
|
0.00001
|
NM_001283009.2(RTEL1):c.2580C>T (p.Ser860=)
|
rs762526856
|
0.00001
|
NM_001283009.2(RTEL1):c.2590G>A (p.Glu864Lys)
|
rs369777001
|
0.00001
|
NM_001283009.2(RTEL1):c.2613G>A (p.Pro871=)
|
rs758611174
|
0.00001
|
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter)
|
rs961593162
|
0.00001
|
NM_001283009.2(RTEL1):c.2620G>A (p.Gly874Arg)
|
rs781632993
|
0.00001
|
NM_001283009.2(RTEL1):c.2635C>T (p.Arg879Trp)
|
rs142877871
|
0.00001
|
NM_001283009.2(RTEL1):c.2640G>C (p.Leu880=)
|
rs147439049
|
0.00001
|
NM_001283009.2(RTEL1):c.264C>T (p.Ser88=)
|
rs1303682681
|
0.00001
|
NM_001283009.2(RTEL1):c.2655G>A (p.Glu885=)
|
rs979303111
|
0.00001
|
NM_001283009.2(RTEL1):c.2669G>A (p.Gly890Asp)
|
rs1243516442
|
0.00001
|
NM_001283009.2(RTEL1):c.2672C>T (p.Ala891Val)
|
rs761295679
|
0.00001
|
NM_001283009.2(RTEL1):c.2705C>G (p.Ala902Gly)
|
rs1394884130
|
0.00001
|
NM_001283009.2(RTEL1):c.2728G>C (p.Ala910Pro)
|
rs751106916
|
0.00001
|
NM_001283009.2(RTEL1):c.2731A>C (p.Asn911His)
|
rs754727644
|
0.00001
|
NM_001283009.2(RTEL1):c.2733C>A (p.Asn911Lys)
|
rs372027131
|
0.00001
|
NM_001283009.2(RTEL1):c.2736T>G (p.Phe912Leu)
|
rs755652402
|
0.00001
|
NM_001283009.2(RTEL1):c.2763C>T (p.Asp921=)
|
rs768967715
|
0.00001
|
NM_001283009.2(RTEL1):c.2769G>A (p.Lys923=)
|
rs2090788815
|
0.00001
|
NM_001283009.2(RTEL1):c.2776G>A (p.Asp926Asn)
|
rs369357121
|
0.00001
|
NM_001283009.2(RTEL1):c.2788G>A (p.Ala930Thr)
|
rs371721039
|
0.00001
|
NM_001283009.2(RTEL1):c.2789C>T (p.Ala930Val)
|
rs745711145
|
0.00001
|
NM_001283009.2(RTEL1):c.2798C>T (p.Ala933Val)
|
rs541761600
|
0.00001
|
NM_001283009.2(RTEL1):c.2801G>T (p.Cys934Phe)
|
rs1263651818
|
0.00001
|
NM_001283009.2(RTEL1):c.2808C>A (p.Gly936=)
|
rs774750824
|
0.00001
|
NM_001283009.2(RTEL1):c.282T>C (p.Ala94=)
|
rs1339759498
|
0.00001
|
NM_001283009.2(RTEL1):c.2835G>A (p.Lys945=)
|
rs750680332
|
0.00001
|
NM_001283009.2(RTEL1):c.2838C>T (p.His946=)
|
rs756249274
|
0.00001
|
NM_001283009.2(RTEL1):c.2842C>G (p.Leu948Val)
|
rs750311914
|
0.00001
|
NM_001283009.2(RTEL1):c.2852-4A>G
|
rs1456085879
|
0.00001
|
NM_001283009.2(RTEL1):c.2852-7T>C
|
rs1332732473
|
0.00001
|
NM_001283009.2(RTEL1):c.2852-9C>T
|
rs375886371
|
0.00001
|
NM_001283009.2(RTEL1):c.2852G>T (p.Gly951Val)
|
rs925928624
|
0.00001
|
NM_001283009.2(RTEL1):c.2866G>C (p.Val956Leu)
|
rs942820151
|
0.00001
|
NM_001283009.2(RTEL1):c.2868G>A (p.Val956=)
|
rs766435400
|
0.00001
|
NM_001283009.2(RTEL1):c.2870G>A (p.Arg957Gln)
|
rs753270617
|
0.00001
|
NM_001283009.2(RTEL1):c.2883G>A (p.Lys961=)
|
rs1333357013
|
0.00001
|
NM_001283009.2(RTEL1):c.2901C>G (p.Val967=)
|
rs1437204344
|
0.00001
|
NM_001283009.2(RTEL1):c.2911C>T (p.Leu971=)
|
rs2090805113
|
0.00001
|
NM_001283009.2(RTEL1):c.2919A>G (p.Gly973=)
|
rs767648957
|
0.00001
|
NM_001283009.2(RTEL1):c.2923G>C (p.Gly975Arg)
|
rs754293748
|
0.00001
|
NM_001283009.2(RTEL1):c.2937G>A (p.Arg979=)
|
rs768689934
|
0.00001
|
NM_001283009.2(RTEL1):c.2939C>G (p.Pro980Arg)
|
rs1340326956
|
0.00001
|
NM_001283009.2(RTEL1):c.2961G>A (p.Arg987=)
|
rs765696960
|
0.00001
|
NM_001283009.2(RTEL1):c.2963A>G (p.Gln988Arg)
|
rs1357930914
|
0.00001
|
NM_001283009.2(RTEL1):c.2970A>C (p.Ala990=)
|
rs930148195
|
0.00001
|
NM_001283009.2(RTEL1):c.2979C>G (p.Val993=)
|
rs116365288
|
0.00001
|
NM_001283009.2(RTEL1):c.2992+10G>A
|
rs756091219
|
0.00001
|
NM_001283009.2(RTEL1):c.2992+9G>C
|
rs752627580
|
0.00001
|
NM_001283009.2(RTEL1):c.2993-6C>T
|
rs1221404939
|
0.00001
|
NM_001283009.2(RTEL1):c.2993-8T>C
|
rs1198061000
|
0.00001
|
NM_001283009.2(RTEL1):c.2993-9C>T
|
rs1345171159
|
0.00001
|
NM_001283009.2(RTEL1):c.29C>T (p.Thr10Ile)
|
rs751168157
|
0.00001
|
NM_001283009.2(RTEL1):c.301+15C>T
|
rs532341610
|
0.00001
|
NM_001283009.2(RTEL1):c.3012C>G (p.Pro1004=)
|
rs1331174859
|
0.00001
|
NM_001283009.2(RTEL1):c.3021C>T (p.Thr1007=)
|
rs762149661
|
0.00001
|
NM_001283009.2(RTEL1):c.3026C>T (p.Ser1009Phe)
|
rs1026729377
|
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.3051C>T (p.Asp1017=)
|
rs748756306
|
0.00001
|
NM_001283009.2(RTEL1):c.3073G>A (p.Gly1025Ser)
|
rs1483445218
|
0.00001
|
NM_001283009.2(RTEL1):c.3076A>C (p.Arg1026=)
|
rs148099608
|
0.00001
|
NM_001283009.2(RTEL1):c.3082C>T (p.His1028Tyr)
|
rs1368646805
|
0.00001
|
NM_001283009.2(RTEL1):c.3084C>T (p.His1028=)
|
rs562364488
|
0.00001
|
NM_001283009.2(RTEL1):c.3087G>A (p.Leu1029=)
|
rs753147923
|
0.00001
|
NM_001283009.2(RTEL1):c.3094A>C (p.Arg1032=)
|
rs1227777952
|
0.00001
|
NM_001283009.2(RTEL1):c.3110-4C>G
|
rs1417877726
|
0.00001
|
NM_001283009.2(RTEL1):c.3115C>T (p.Pro1039Ser)
|
rs976592801
|
0.00001
|
NM_001283009.2(RTEL1):c.3120C>T (p.Gly1040=)
|
rs41298346
|
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.3154G>A (p.Ala1052Thr)
|
rs1266676069
|
0.00001
|
NM_001283009.2(RTEL1):c.3157G>C (p.Gly1053Arg)
|
rs1321802859
|
0.00001
|
NM_001283009.2(RTEL1):c.3183C>T (p.Ser1061=)
|
rs573260461
|
0.00001
|
NM_001283009.2(RTEL1):c.3184G>A (p.Ala1062Thr)
|
rs773397014
|
0.00001
|
NM_001283009.2(RTEL1):c.3190C>G (p.Leu1064Val)
|
rs373448481
|
0.00001
|
NM_001283009.2(RTEL1):c.3196G>A (p.Asp1066Asn)
|
rs748671796
|
0.00001
|
NM_001283009.2(RTEL1):c.3201C>T (p.Ala1067=)
|
rs773498759
|
0.00001
|
NM_001283009.2(RTEL1):c.3213G>A (p.Leu1071=)
|
rs1209413497
|
0.00001
|
NM_001283009.2(RTEL1):c.3220G>A (p.Ala1074Thr)
|
rs780364760
|
0.00001
|
NM_001283009.2(RTEL1):c.3227G>A (p.Cys1076Tyr)
|
rs781481182
|
0.00001
|
NM_001283009.2(RTEL1):c.3237C>T (p.Leu1079=)
|
rs1362593763
|
0.00001
|
NM_001283009.2(RTEL1):c.3246G>A (p.Ala1082=)
|
rs749570178
|
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.3276C>T (p.Leu1092=)
|
rs143869851
|
0.00001
|
NM_001283009.2(RTEL1):c.3301G>A (p.Ala1101Thr)
|
rs746445840
|
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.3332C>T (p.Pro1111Leu)
|
rs746179380
|
0.00001
|
NM_001283009.2(RTEL1):c.333C>T (p.Tyr111=)
|
rs749496657
|
0.00001
|
NM_001283009.2(RTEL1):c.3343+8G>C
|
rs768036242
|
0.00001
|
NM_001283009.2(RTEL1):c.3344-5C>T
|
rs751914068
|
0.00001
|
NM_001283009.2(RTEL1):c.3344-6C>G
|
rs1455821579
|
0.00001
|
NM_001283009.2(RTEL1):c.3348C>T (p.Phe1116=)
|
rs116037096
|
0.00001
|
NM_001283009.2(RTEL1):c.336C>T (p.Ala112=)
|
rs778831023
|
0.00001
|
NM_001283009.2(RTEL1):c.3379C>T (p.Arg1127Cys)
|
rs745614952
|
0.00001
|
NM_001283009.2(RTEL1):c.3380G>A (p.Arg1127His)
|
rs771768208
|
0.00001
|
NM_001283009.2(RTEL1):c.3391A>T (p.Thr1131Ser)
|
rs1471853155
|
0.00001
|
NM_001283009.2(RTEL1):c.3419A>T (p.Tyr1140Phe)
|
rs200622914
|
0.00001
|
NM_001283009.2(RTEL1):c.3426C>G (p.Gly1142=)
|
rs1421070072
|
0.00001
|
NM_001283009.2(RTEL1):c.3432G>A (p.Glu1144=)
|
rs150020148
|
0.00001
|
NM_001283009.2(RTEL1):c.3444C>G (p.Pro1148=)
|
rs761141453
|
0.00001
|
NM_001283009.2(RTEL1):c.3465G>A (p.Val1155=)
|
rs779999962
|
0.00001
|
NM_001283009.2(RTEL1):c.3467C>T (p.Pro1156Leu)
|
rs746759990
|
0.00001
|
NM_001283009.2(RTEL1):c.3499+13C>T
|
rs776151813
|
0.00001
|
NM_001283009.2(RTEL1):c.3499+15T>C
|
rs546556686
|
0.00001
|
NM_001283009.2(RTEL1):c.3499+7C>T
|
rs1228292168
|
0.00001
|
NM_001283009.2(RTEL1):c.3500-10C>T
|
rs1346472274
|
0.00001
|
NM_001283009.2(RTEL1):c.3500-4C>T
|
rs375417864
|
0.00001
|
NM_001283009.2(RTEL1):c.3500-8G>A
|
rs755399951
|
0.00001
|
NM_001283009.2(RTEL1):c.3501C>T (p.Gly1167=)
|
rs2090950580
|
0.00001
|
NM_001283009.2(RTEL1):c.3510G>A (p.Arg1170=)
|
rs1341254091
|
0.00001
|
NM_001283009.2(RTEL1):c.3519G>A (p.Lys1173=)
|
rs979471304
|
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.3534G>A (p.Gln1178=)
|
rs781484810
|
0.00001
|
NM_001283009.2(RTEL1):c.3536G>A (p.Ser1179Asn)
|
rs1350306450
|
0.00001
|
NM_001283009.2(RTEL1):c.3552C>T (p.Phe1184=)
|
rs760713860
|
0.00001
|
NM_001283009.2(RTEL1):c.3564G>A (p.Arg1188=)
|
rs751837255
|
0.00001
|
NM_001283009.2(RTEL1):c.3594G>C (p.Glu1198Asp)
|
rs1440306935
|
0.00001
|
NM_001283009.2(RTEL1):c.3603T>A (p.Gly1201=)
|
rs779653630
|
0.00001
|
NM_001283009.2(RTEL1):c.3606C>T (p.Pro1202=)
|
rs1187146202
|
0.00001
|
NM_001283009.2(RTEL1):c.360A>G (p.Thr120=)
|
rs979746668
|
0.00001
|
NM_001283009.2(RTEL1):c.3615C>T (p.Ser1205=)
|
rs797045923
|
0.00001
|
NM_001283009.2(RTEL1):c.3633G>A (p.Gly1211=)
|
rs202163308
|
0.00001
|
NM_001283009.2(RTEL1):c.3640G>A (p.Ala1214Thr)
|
rs1247941163
|
0.00001
|
NM_001283009.2(RTEL1):c.3672C>G (p.Asp1224Glu)
|
rs779295227
|
0.00001
|
NM_001283009.2(RTEL1):c.3676G>A (p.Ala1226Thr)
|
rs371373011
|
0.00001
|
NM_001283009.2(RTEL1):c.3687G>A (p.Gln1229=)
|
rs781271056
|
0.00001
|
NM_001283009.2(RTEL1):c.36C>T (p.Asp12=)
|
rs1214491069
|
0.00001
|
NM_001283009.2(RTEL1):c.3706G>A (p.Gly1236Arg)
|
rs200225613
|
0.00001
|
NM_001283009.2(RTEL1):c.3708G>T (p.Gly1236=)
|
rs754318726
|
0.00001
|
NM_001283009.2(RTEL1):c.3744G>A (p.Gly1248=)
|
rs754522932
|
0.00001
|
NM_001283009.2(RTEL1):c.3760C>T (p.Pro1254Ser)
|
rs1311759310
|
0.00001
|
NM_001283009.2(RTEL1):c.3766C>T (p.Gln1256Ter)
|
rs1385101139
|
0.00001
|
NM_001283009.2(RTEL1):c.3790C>T (p.Arg1264Cys)
|
rs761902346
|
0.00001
|
NM_001283009.2(RTEL1):c.3801C>T (p.Ala1267=)
|
rs368388044
|
0.00001
|
NM_001283009.2(RTEL1):c.3811C>T (p.Arg1271Trp)
|
rs993254667
|
0.00001
|
NM_001283009.2(RTEL1):c.3812G>A (p.Arg1271Gln)
|
rs754719045
|
0.00001
|
NM_001283009.2(RTEL1):c.3816C>T (p.His1272=)
|
rs1230042093
|
0.00001
|
NM_001283009.2(RTEL1):c.3822+9C>T
|
rs755701337
|
0.00001
|
NM_001283009.2(RTEL1):c.3823-13G>A
|
rs879061607
|
0.00001
|
NM_001283009.2(RTEL1):c.3823-3C>T
|
rs1242643276
|
0.00001
|
NM_001283009.2(RTEL1):c.3823-4A>T
|
rs369817802
|
0.00001
|
NM_001283009.2(RTEL1):c.3823-9G>A
|
rs781387957
|
0.00001
|
NM_001283009.2(RTEL1):c.3825C>T (p.Ala1275=)
|
rs775014813
|
0.00001
|
NM_001283009.2(RTEL1):c.3853G>A (p.Ala1285Thr)
|
rs760281201
|
0.00001
|
NM_001283009.2(RTEL1):c.3858C>T (p.Ser1286=)
|
rs1265451456
|
0.00001
|
NM_001283009.2(RTEL1):c.3861G>A (p.Arg1287=)
|
rs753235573
|
0.00001
|
NM_001283009.2(RTEL1):c.3864G>A (p.Lys1288=)
|
rs1278011802
|
0.00001
|
NM_001283009.2(RTEL1):c.3870C>T (p.Ser1290=)
|
rs765090741
|
0.00001
|
NM_001283009.2(RTEL1):c.3875T>G (p.Met1292Arg)
|
rs2090967240
|
0.00001
|
NM_001283009.2(RTEL1):c.395+19del
|
rs780292704
|
0.00001
|
NM_001283009.2(RTEL1):c.395G>A (p.Arg132Gln)
|
rs762587175
|
0.00001
|
NM_001283009.2(RTEL1):c.396-31C>T
|
rs562173928
|
0.00001
|
NM_001283009.2(RTEL1):c.396-5A>C
|
rs761890952
|
0.00001
|
NM_001283009.2(RTEL1):c.396-6C>T
|
rs778603711
|
0.00001
|
NM_001283009.2(RTEL1):c.396-79C>T
|
rs776396450
|
0.00001
|
NM_001283009.2(RTEL1):c.436A>G (p.Ile146Val)
|
rs1420390084
|
0.00001
|
NM_001283009.2(RTEL1):c.454A>G (p.Lys152Glu)
|
rs1234907654
|
0.00001
|
NM_001283009.2(RTEL1):c.456A>G (p.Lys152=)
|
rs373428530
|
0.00001
|
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs)
|
rs773025155
|
0.00001
|
NM_001283009.2(RTEL1):c.459A>G (p.Gln153=)
|
rs761767090
|
0.00001
|
NM_001283009.2(RTEL1):c.477+16C>T
|
rs201882552
|
0.00001
|
NM_001283009.2(RTEL1):c.477+7T>C
|
rs141915461
|
0.00001
|
NM_001283009.2(RTEL1):c.477+9C>T
|
rs1466334657
|
0.00001
|
NM_001283009.2(RTEL1):c.509G>A (p.Arg170His)
|
rs750794827
|
0.00001
|
NM_001283009.2(RTEL1):c.510C>T (p.Arg170=)
|
rs2090048741
|
0.00001
|
NM_001283009.2(RTEL1):c.516T>C (p.Cys172=)
|
rs1182512155
|
0.00001
|
NM_001283009.2(RTEL1):c.525C>T (p.Tyr175=)
|
rs1161373315
|
0.00001
|
NM_001283009.2(RTEL1):c.531C>T (p.Asn177=)
|
rs781051899
|
0.00001
|
NM_001283009.2(RTEL1):c.532G>A (p.Val178Ile)
|
rs184051277
|
0.00001
|
NM_001283009.2(RTEL1):c.533T>C (p.Val178Ala)
|
rs199685200
|
0.00001
|
NM_001283009.2(RTEL1):c.539-16del
|
rs770791428
|
0.00001
|
NM_001283009.2(RTEL1):c.539-6C>A
|
rs778544732
|
0.00001
|
NM_001283009.2(RTEL1):c.539-7C>T
|
rs757040812
|
0.00001
|
NM_001283009.2(RTEL1):c.539-9C>T
|
rs781419094
|
0.00001
|
NM_001283009.2(RTEL1):c.546C>T (p.Ser182=)
|
rs145902382
|
0.00001
|
NM_001283009.2(RTEL1):c.563C>T (p.Ala188Val)
|
rs1258972797
|
0.00001
|
NM_001283009.2(RTEL1):c.567C>T (p.Ser189=)
|
rs773728236
|
0.00001
|
NM_001283009.2(RTEL1):c.596A>G (p.Lys199Arg)
|
rs1377331597
|
0.00001
|
NM_001283009.2(RTEL1):c.614+17A>C
|
rs1364370191
|
0.00001
|
NM_001283009.2(RTEL1):c.615-10T>C
|
rs762692931
|
0.00001
|
NM_001283009.2(RTEL1):c.615-13C>T
|
rs189504124
|
0.00001
|
NM_001283009.2(RTEL1):c.615-4C>T
|
rs766130332
|
0.00001
|
NM_001283009.2(RTEL1):c.624T>C (p.Pro208=)
|
rs1396123455
|
0.00001
|
NM_001283009.2(RTEL1):c.637C>T (p.Arg213Trp)
|
rs560281693
|
0.00001
|
NM_001283009.2(RTEL1):c.654A>G (p.Gln218=)
|
rs1335062115
|
0.00001
|
NM_001283009.2(RTEL1):c.657C>T (p.Ala219=)
|
rs148367004
|
0.00001
|
NM_001283009.2(RTEL1):c.658G>A (p.Asp220Asn)
|
rs776356655
|
0.00001
|
NM_001283009.2(RTEL1):c.699+17G>A
|
rs757244305
|
0.00001
|
NM_001283009.2(RTEL1):c.703C>T (p.Arg235Cys)
|
rs866782181
|
0.00001
|
NM_001283009.2(RTEL1):c.714C>T (p.His238=)
|
rs372078666
|
0.00001
|
NM_001283009.2(RTEL1):c.72C>T (p.Tyr24=)
|
rs1424161739
|
0.00001
|
NM_001283009.2(RTEL1):c.739G>A (p.Val247Met)
|
rs1194320122
|
0.00001
|
NM_001283009.2(RTEL1):c.765+10C>T
|
rs551599980
|
0.00001
|
NM_001283009.2(RTEL1):c.773T>C (p.Met258Thr)
|
rs1555901763
|
0.00001
|
NM_001283009.2(RTEL1):c.813C>T (p.Asp271=)
|
rs1415789408
|
0.00001
|
NM_001283009.2(RTEL1):c.852G>A (p.Glu284=)
|
rs764411233
|
0.00001
|
NM_001283009.2(RTEL1):c.870G>A (p.Ala290=)
|
rs200099775
|
0.00001
|
NM_001283009.2(RTEL1):c.883C>A (p.Pro295Thr)
|
rs755010352
|
0.00001
|
NM_001283009.2(RTEL1):c.905A>G (p.Asp302Gly)
|
rs776979963
|
0.00001
|
NM_001283009.2(RTEL1):c.920-6G>C
|
rs754549270
|
0.00001
|
NM_001283009.2(RTEL1):c.924G>A (p.Leu308=)
|
rs767511395
|
0.00001
|
NM_001283009.2(RTEL1):c.983C>G (p.Ala328Gly)
|
rs561033103
|
0.00001
|
NM_001283009.2(RTEL1):c.9G>A (p.Lys3=)
|
rs746271642
|
0.00001
|
NM_001317778.2(SFTPC):c.*186G>A
|
rs892113541
|
0.00001
|
NM_001317778.2(SFTPC):c.142G>A (p.Val48Met)
|
rs566914013
|
0.00001
|
NM_002421.4(MMP1):c.988del (p.Ala330fs)
|
rs753853224
|
0.00001
|
NM_002582.4(PARN):c.1005+12T>C
|
rs370455325
|
0.00001
|
NM_002582.4(PARN):c.1019A>G (p.Asn340Ser)
|
rs768793595
|
0.00001
|
NM_002582.4(PARN):c.1044G>A (p.Lys348=)
|
rs550419061
|
0.00001
|
NM_002582.4(PARN):c.1045C>T (p.Arg349Trp)
|
rs754368658
|
0.00001
|
NM_002582.4(PARN):c.104G>C (p.Ser35Thr)
|
rs1972801342
|
0.00001
|
NM_002582.4(PARN):c.1067A>G (p.Asn356Ser)
|
rs757655633
|
0.00001
|
NM_002582.4(PARN):c.1090G>A (p.Glu364Lys)
|
rs772109946
|
0.00001
|
NM_002582.4(PARN):c.1132G>A (p.Glu378Lys)
|
rs761566642
|
0.00001
|
NM_002582.4(PARN):c.1152C>T (p.Tyr384=)
|
rs781722636
|
0.00001
|
NM_002582.4(PARN):c.1182C>G (p.Ala394=)
|
rs753507535
|
0.00001
|
NM_002582.4(PARN):c.1262+6T>C
|
rs1382552508
|
0.00001
|
NM_002582.4(PARN):c.1262A>G (p.Lys421Arg)
|
rs777090017
|
0.00001
|
NM_002582.4(PARN):c.1277G>A (p.Arg426Lys)
|
rs1267290979
|
0.00001
|
NM_002582.4(PARN):c.1331G>A (p.Arg444His)
|
rs1171017864
|
0.00001
|
NM_002582.4(PARN):c.135T>C (p.Asn45=)
|
rs181642805
|
0.00001
|
NM_002582.4(PARN):c.1381C>G (p.Leu461Val)
|
rs1225884986
|
0.00001
|
NM_002582.4(PARN):c.1481-8C>T
|
rs1365036366
|
0.00001
|
NM_002582.4(PARN):c.1497A>C (p.Lys499Asn)
|
rs1185388930
|
0.00001
|
NM_002582.4(PARN):c.1500T>C (p.Tyr500=)
|
rs1596486011
|
0.00001
|
NM_002582.4(PARN):c.1514G>A (p.Arg505Gln)
|
rs760452316
|
0.00001
|
NM_002582.4(PARN):c.1531G>A (p.Glu511Lys)
|
rs759381342
|
0.00001
|
NM_002582.4(PARN):c.1612C>T (p.Arg538Trp)
|
rs183781022
|
0.00001
|
NM_002582.4(PARN):c.1620C>T (p.Asn540=)
|
rs550755432
|
0.00001
|
NM_002582.4(PARN):c.177+16A>G
|
rs756765052
|
0.00001
|
NM_002582.4(PARN):c.177+20A>G
|
rs1477667575
|
0.00001
|
NM_002582.4(PARN):c.178-10C>T
|
rs1328915368
|
0.00001
|
NM_002582.4(PARN):c.178-3C>T
|
rs1394966197
|
0.00001
|
NM_002582.4(PARN):c.1783G>T (p.Asp595Tyr)
|
rs767702074
|
0.00001
|
NM_002582.4(PARN):c.1824C>A (p.Ala608=)
|
rs372735495
|
0.00001
|
NM_002582.4(PARN):c.1835A>G (p.Lys612Arg)
|
rs1361443338
|
0.00001
|
NM_002582.4(PARN):c.1864+19C>T
|
rs771533054
|
0.00001
|
NM_002582.4(PARN):c.1865-16T>C
|
rs777247651
|
0.00001
|
NM_002582.4(PARN):c.1865-9T>C
|
rs768874362
|
0.00001
|
NM_002582.4(PARN):c.1870A>G (p.Ile624Val)
|
rs535627250
|
0.00001
|
NM_002582.4(PARN):c.19+17C>T
|
rs943003147
|
0.00001
|
NM_002582.4(PARN):c.1914A>G (p.Thr638=)
|
rs765213830
|
0.00001
|
NM_002582.4(PARN):c.20-8C>A
|
rs747888634
|
0.00001
|
NM_002582.4(PARN):c.244_245+6dup
|
rs1481415822
|
0.00001
|
NM_002582.4(PARN):c.245A>G (p.Lys82Arg)
|
rs201235100
|
0.00001
|
NM_002582.4(PARN):c.250A>G (p.Ile84Val)
|
rs1430004851
|
0.00001
|
NM_002582.4(PARN):c.281C>T (p.Pro94Leu)
|
rs1972723198
|
0.00001
|
NM_002582.4(PARN):c.282G>A (p.Pro94=)
|
rs1379435273
|
0.00001
|
NM_002582.4(PARN):c.328-7G>C
|
rs1972011983
|
0.00001
|
NM_002582.4(PARN):c.350C>G (p.Ala117Gly)
|
rs1972010104
|
0.00001
|
NM_002582.4(PARN):c.382C>T (p.Arg128Ter)
|
rs1318821563
|
0.00001
|
NM_002582.4(PARN):c.449G>A (p.Arg150His)
|
rs755153974
|
0.00001
|
NM_002582.4(PARN):c.494A>G (p.Asn165Ser)
|
rs775164255
|
0.00001
|
NM_002582.4(PARN):c.496A>G (p.Thr166Ala)
|
rs370388189
|
0.00001
|
NM_002582.4(PARN):c.515C>T (p.Thr172Met)
|
rs201180499
|
0.00001
|
NM_002582.4(PARN):c.540_554+8dup
|
rs755696071
|
0.00001
|
NM_002582.4(PARN):c.573A>T (p.Leu191Phe)
|
rs765326441
|
0.00001
|
NM_002582.4(PARN):c.618C>T (p.Thr206=)
|
rs776536192
|
0.00001
|
NM_002582.4(PARN):c.621-20C>G
|
rs1265999446
|
0.00001
|
NM_002582.4(PARN):c.657G>A (p.Trp219Ter)
|
rs1363931577
|
0.00001
|
NM_002582.4(PARN):c.733G>A (p.Asp245Asn)
|
rs1375796074
|
0.00001
|
NM_002582.4(PARN):c.746G>A (p.Arg249His)
|
rs775658912
|
0.00001
|
NM_002582.4(PARN):c.76G>A (p.Ala26Thr)
|
rs768398246
|
0.00001
|
NM_002582.4(PARN):c.784-15T>C
|
rs1466685577
|
0.00001
|
NM_002582.4(PARN):c.840+13G>T
|
rs747718824
|
0.00001
|
NM_002582.4(PARN):c.853A>G (p.Ile285Val)
|
rs376031010
|
0.00001
|
NM_002582.4(PARN):c.918+20G>A
|
rs540580233
|
0.00001
|
NM_002582.4(PARN):c.948_949del (p.Val318fs)
|
rs1461036243
|
0.00001
|
NM_005094.4(SLC27A4):c.1504C>T (p.Arg502Ter)
|
rs587776384
|
0.00001
|
NM_005094.4(SLC27A4):c.1523C>T (p.Thr508Met)
|
rs765311079
|
0.00001
|
NM_005094.4(SLC27A4):c.1748G>A (p.Arg583His)
|
rs137853135
|
0.00001
|
NM_005094.4(SLC27A4):c.739T>C (p.Ser247Pro)
|
rs137853133
|
0.00001
|
NM_198253.3(TERT):c.1013A>G (p.Lys338Arg)
|
rs1393461978
|
0.00001
|
NM_198253.3(TERT):c.1028C>G (p.Pro343Arg)
|
rs1233561979
|
0.00001
|
NM_198253.3(TERT):c.1032C>G (p.Ser344=)
|
rs367668700
|
0.00001
|
NM_198253.3(TERT):c.1032C>T (p.Ser344=)
|
rs367668700
|
0.00001
|
NM_198253.3(TERT):c.1041C>G (p.Leu347=)
|
rs1232780244
|
0.00001
|
NM_198253.3(TERT):c.1043G>A (p.Ser348Asn)
|
rs1279397908
|
0.00001
|
NM_198253.3(TERT):c.1050G>A (p.Leu350=)
|
rs1440641613
|
0.00001
|
NM_198253.3(TERT):c.1068C>T (p.Gly356=)
|
rs1224933352
|
0.00001
|
NM_198253.3(TERT):c.1073G>A (p.Arg358Gln)
|
rs200191524
|
0.00001
|
NM_198253.3(TERT):c.1090A>G (p.Ile364Val)
|
rs748699440
|
0.00001
|
NM_198253.3(TERT):c.1128C>G (p.Pro376=)
|
rs1407976533
|
0.00001
|
NM_198253.3(TERT):c.1131C>T (p.Arg377=)
|
rs1255789466
|
0.00001
|
NM_198253.3(TERT):c.1141C>G (p.Arg381Gly)
|
rs573210043
|
0.00001
|
NM_198253.3(TERT):c.1173C>T (p.Pro391=)
|
rs201505416
|
0.00001
|
NM_198253.3(TERT):c.1181T>A (p.Leu394Gln)
|
rs1357160289
|
0.00001
|
NM_198253.3(TERT):c.1192G>C (p.Gly398Arg)
|
rs1413910260
|
0.00001
|
NM_198253.3(TERT):c.1200C>T (p.His400=)
|
rs755523267
|
0.00001
|
NM_198253.3(TERT):c.1208G>C (p.Cys403Ser)
|
rs767558514
|
0.00001
|
NM_198253.3(TERT):c.1209C>T (p.Cys403=)
|
rs1166313699
|
0.00001
|
NM_198253.3(TERT):c.1215C>T (p.Tyr405=)
|
rs1416285081
|
0.00001
|
NM_198253.3(TERT):c.1232C>T (p.Thr411Met)
|
rs1262077490
|
0.00001
|
NM_198253.3(TERT):c.1236C>T (p.His412=)
|
rs766229902
|
0.00001
|
NM_198253.3(TERT):c.1242G>A (p.Pro414=)
|
rs775795705
|
0.00001
|
NM_198253.3(TERT):c.1253C>T (p.Ala418Val)
|
rs1561213598
|
0.00001
|
NM_198253.3(TERT):c.1257C>T (p.Val419=)
|
rs1271171667
|
0.00001
|
NM_198253.3(TERT):c.1264G>A (p.Ala422Thr)
|
rs1298013724
|
0.00001
|
NM_198253.3(TERT):c.1282C>T (p.Arg428Trp)
|
rs1400139919
|
0.00001
|
NM_198253.3(TERT):c.1287G>A (p.Glu429=)
|
rs1060504790
|
0.00001
|
NM_198253.3(TERT):c.1292C>T (p.Pro431Leu)
|
rs1164823749
|
0.00001
|
NM_198253.3(TERT):c.12T>C (p.Ala4=)
|
rs1060504797
|
0.00001
|
NM_198253.3(TERT):c.1301C>T (p.Ser434Phe)
|
rs1751138304
|
0.00001
|
NM_198253.3(TERT):c.1307C>T (p.Ala436Val)
|
rs986886145
|
0.00001
|
NM_198253.3(TERT):c.1314C>T (p.Pro438=)
|
rs1246997503
|
0.00001
|
NM_198253.3(TERT):c.1323G>T (p.Glu441Asp)
|
rs1213914911
|
0.00001
|
NM_198253.3(TERT):c.1324G>A (p.Asp442Asn)
|
rs780427764
|
0.00001
|
NM_198253.3(TERT):c.1331A>G (p.Asp444Gly)
|
rs878855299
|
0.00001
|
NM_198253.3(TERT):c.1339C>T (p.Arg447Cys)
|
rs1304418053
|
0.00001
|
NM_198253.3(TERT):c.1349A>G (p.Gln450Arg)
|
rs1751132215
|
0.00001
|
NM_198253.3(TERT):c.1351C>T (p.Leu451=)
|
rs752227262
|
0.00001
|
NM_198253.3(TERT):c.1356C>T (p.Leu452=)
|
rs1000770517
|
0.00001
|
NM_198253.3(TERT):c.1365C>T (p.His455=)
|
rs904892356
|
0.00001
|
NM_198253.3(TERT):c.1431C>T (p.Leu477=)
|
rs35459373
|
0.00001
|
NM_198253.3(TERT):c.1443G>A (p.Arg481=)
|
rs1373208248
|
0.00001
|
NM_198253.3(TERT):c.1462C>T (p.Leu488Phe)
|
rs746216837
|
0.00001
|
NM_198253.3(TERT):c.146C>T (p.Ala49Val)
|
rs1060503013
|
0.00001
|
NM_198253.3(TERT):c.148C>T (p.Leu50=)
|
rs1241180227
|
0.00001
|
NM_198253.3(TERT):c.1490T>G (p.Leu497Arg)
|
rs1751116306
|
0.00001
|
NM_198253.3(TERT):c.1494G>A (p.Gly498=)
|
rs200369031
|
0.00001
|
NM_198253.3(TERT):c.1497G>A (p.Lys499=)
|
rs754473890
|
0.00001
|
NM_198253.3(TERT):c.1514T>A (p.Leu505Gln)
|
rs1344847833
|
0.00001
|
NM_198253.3(TERT):c.1560G>A (p.Leu520=)
|
rs753991999
|
0.00001
|
NM_198253.3(TERT):c.1561C>T (p.Arg521Cys)
|
rs1448835821
|
0.00001
|
NM_198253.3(TERT):c.1563C>T (p.Arg521=)
|
rs764171875
|
0.00001
|
NM_198253.3(TERT):c.1564A>C (p.Arg522=)
|
rs200864183
|
0.00001
|
NM_198253.3(TERT):c.1573+17C>T
|
rs767882579
|
0.00001
|
NM_198253.3(TERT):c.1573+6G>T
|
rs1561213199
|
0.00001
|
NM_198253.3(TERT):c.1574-20G>T
|
rs1288029076
|
0.00001
|
NM_198253.3(TERT):c.1574-8C>T
|
rs957049391
|
0.00001
|
NM_198253.3(TERT):c.1589C>T (p.Pro530Leu)
|
rs369539932
|
0.00001
|
NM_198253.3(TERT):c.1604G>A (p.Arg535His)
|
rs768398955
|
0.00001
|
NM_198253.3(TERT):c.1609C>T (p.Arg537Cys)
|
rs760352197
|
0.00001
|
NM_198253.3(TERT):c.1615G>A (p.Glu539Lys)
|
rs1203927893
|
0.00001
|
NM_198253.3(TERT):c.1657G>A (p.Val553Ile)
|
rs749051614
|
0.00001
|
NM_198253.3(TERT):c.1665G>A (p.Glu555=)
|
rs1409442770
|
0.00001
|
NM_198253.3(TERT):c.1692G>A (p.Thr564=)
|
rs377217777
|
0.00001
|
NM_198253.3(TERT):c.1700C>T (p.Thr567Met)
|
rs886039438
|
0.00001
|
NM_198253.3(TERT):c.1719C>G (p.Leu573=)
|
rs978808687
|
0.00001
|
NM_198253.3(TERT):c.171C>T (p.Cys57=)
|
rs1189644919
|
0.00001
|
NM_198253.3(TERT):c.1728C>T (p.Tyr576=)
|
rs1554041291
|
0.00001
|
NM_198253.3(TERT):c.1730G>A (p.Arg577Gln)
|
rs1311034283
|
0.00001
|
NM_198253.3(TERT):c.1736G>T (p.Ser579Ile)
|
rs1176093960
|
0.00001
|
NM_198253.3(TERT):c.1737T>A (p.Ser579Arg)
|
rs1395379702
|
0.00001
|
NM_198253.3(TERT):c.174G>A (p.Val58=)
|
rs1054748675
|
0.00001
|
NM_198253.3(TERT):c.175C>T (p.Pro59Ser)
|
rs1446206464
|
0.00001
|
NM_198253.3(TERT):c.1769+8A>T
|
rs763457117
|
0.00001
|
NM_198253.3(TERT):c.1779G>T (p.Leu593Phe)
|
rs199585924
|
0.00001
|
NM_198253.3(TERT):c.1796G>A (p.Arg599Gln)
|
rs372511089
|
0.00001
|
NM_198253.3(TERT):c.1805C>T (p.Ser602Leu)
|
rs759017540
|
0.00001
|
NM_198253.3(TERT):c.1825C>T (p.His609Tyr)
|
rs1263419082
|
0.00001
|
NM_198253.3(TERT):c.1846C>T (p.Leu616=)
|
rs780283430
|
0.00001
|
NM_198253.3(TERT):c.1853C>T (p.Thr618Met)
|
rs746434205
|
0.00001
|
NM_198253.3(TERT):c.1854G>A (p.Thr618=)
|
rs746040728
|
0.00001
|
NM_198253.3(TERT):c.186A>G (p.Ala62=)
|
rs1469467957
|
0.00001
|
NM_198253.3(TERT):c.1880C>G (p.Pro627Arg)
|
rs146439826
|
0.00001
|
NM_198253.3(TERT):c.188G>A (p.Arg63Gln)
|
rs1336720402
|
0.00001
|
NM_198253.3(TERT):c.1890G>T (p.Leu630=)
|
rs1749926290
|
0.00001
|
NM_198253.3(TERT):c.1896G>A (p.Pro632=)
|
rs140056333
|
0.00001
|
NM_198253.3(TERT):c.189G>A (p.Arg63=)
|
rs1554043134
|
0.00001
|
NM_198253.3(TERT):c.1904A>G (p.Asn635Ser)
|
rs1749924823
|
0.00001
|
NM_198253.3(TERT):c.1907T>C (p.Met636Thr)
|
rs1060503010
|
0.00001
|
NM_198253.3(TERT):c.1914C>T (p.Tyr638=)
|
rs541931572
|
0.00001
|
NM_198253.3(TERT):c.1915G>A (p.Val639Ile)
|
rs151121796
|
0.00001
|
NM_198253.3(TERT):c.1918G>A (p.Val640Met)
|
rs765195721
|
0.00001
|
NM_198253.3(TERT):c.1924G>A (p.Ala642Thr)
|
rs761603068
|
0.00001
|
NM_198253.3(TERT):c.1926C>G (p.Ala642=)
|
rs768266882
|
0.00001
|
NM_198253.3(TERT):c.1937G>A (p.Arg646His)
|
rs779338296
|
0.00001
|
NM_198253.3(TERT):c.1939A>C (p.Arg647=)
|
rs144821759
|
0.00001
|
NM_198253.3(TERT):c.1950+20A>G
|
rs764608907
|
0.00001
|
NM_198253.3(TERT):c.1950+7G>A
|
rs756378220
|
0.00001
|
NM_198253.3(TERT):c.1951-10del
|
rs1289197000
|
0.00001
|
NM_198253.3(TERT):c.1951-11G>A
|
rs1189811983
|
0.00001
|
NM_198253.3(TERT):c.1951-18C>T
|
rs1472140487
|
0.00001
|
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys)
|
rs1228165704
|
0.00001
|
NM_198253.3(TERT):c.1958G>A (p.Arg653His)
|
rs890242322
|
0.00001
|
NM_198253.3(TERT):c.1977G>A (p.Lys659=)
|
rs756706816
|
0.00001
|
NM_198253.3(TERT):c.1989C>T (p.Ser663=)
|
rs763907027
|
0.00001
|
NM_198253.3(TERT):c.1998C>T (p.Asn666=)
|
rs1165252691
|
0.00001
|
NM_198253.3(TERT):c.2002G>A (p.Glu668Lys)
|
rs1368095577
|
0.00001
|
NM_198253.3(TERT):c.2005C>T (p.Arg669Trp)
|
rs372140951
|
0.00001
|
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)
|
rs1060503011
|
0.00001
|
NM_198253.3(TERT):c.2013G>T (p.Arg671=)
|
rs34625402
|
0.00001
|
NM_198253.3(TERT):c.2015G>A (p.Arg672His)
|
rs1353891039
|
0.00001
|
NM_198253.3(TERT):c.2021G>A (p.Gly674Asp)
|
rs1238092784
|
0.00001
|
NM_198253.3(TERT):c.2034C>G (p.Ala678=)
|
rs1325340634
|
0.00001
|
NM_198253.3(TERT):c.2041C>T (p.Leu681=)
|
rs1310819412
|
0.00001
|
NM_198253.3(TERT):c.2073C>T (p.Arg691=)
|
rs1205368239
|
0.00001
|
NM_198253.3(TERT):c.2080G>A (p.Val694Met)
|
rs121918662
|
0.00001
|
NM_198253.3(TERT):c.2105C>T (p.Pro702Leu)
|
rs754809046
|
0.00001
|
NM_198253.3(TERT):c.2130+15C>T
|
rs774111486
|
0.00001
|
NM_198253.3(TERT):c.2130+19C>T
|
rs748903827
|
0.00001
|
NM_198253.3(TERT):c.2131-5C>A
|
rs1749799813
|
0.00001
|
NM_198253.3(TERT):c.2148G>A (p.Ala716=)
|
rs747654267
|
0.00001
|
NM_198253.3(TERT):c.2163C>G (p.Pro721=)
|
rs1455990789
|
0.00001
|
NM_198253.3(TERT):c.2185A>G (p.Ile729Val)
|
rs753929279
|
0.00001
|
NM_198253.3(TERT):c.21C>T (p.Cys7=)
|
rs1447706663
|
0.00001
|
NM_198253.3(TERT):c.220-8C>T
|
rs1579598909
|
0.00001
|
NM_198253.3(TERT):c.2205C>A (p.Pro735=)
|
rs772650889
|
0.00001
|
NM_198253.3(TERT):c.2213C>T (p.Thr738Met)
|
rs1749789095
|
0.00001
|
NM_198253.3(TERT):c.2220C>T (p.Cys740=)
|
rs769553764
|
0.00001
|
NM_198253.3(TERT):c.2225G>A (p.Arg742His)
|
rs727503468
|
0.00001
|
NM_198253.3(TERT):c.2227C>T (p.Arg743Trp)
|
rs1388515349
|
0.00001
|
NM_198253.3(TERT):c.2250C>T (p.Ala750=)
|
rs941567959
|
0.00001
|
NM_198253.3(TERT):c.2266C>T (p.Arg756Cys)
|
rs754018580
|
0.00001
|
NM_198253.3(TERT):c.2267G>A (p.Arg756His)
|
rs374206276
|
0.00001
|
NM_198253.3(TERT):c.2286C>T (p.His762=)
|
rs768062052
|
0.00001
|
NM_198253.3(TERT):c.2307C>T (p.Leu769=)
|
rs117662357
|
0.00001
|
NM_198253.3(TERT):c.2312C>T (p.Pro771Leu)
|
rs1309399887
|
0.00001
|
NM_198253.3(TERT):c.2321G>A (p.Arg774Gln)
|
rs1579564912
|
0.00001
|
NM_198253.3(TERT):c.2337C>T (p.His779=)
|
rs747564177
|
0.00001
|
NM_198253.3(TERT):c.2343G>A (p.Gln781=)
|
rs758894591
|
0.00001
|
NM_198253.3(TERT):c.2354C>T (p.Pro785Leu)
|
rs483352771
|
0.00001
|
NM_198253.3(TERT):c.2355G>A (p.Pro785=)
|
rs545260840
|
0.00001
|
NM_198253.3(TERT):c.2360G>A (p.Arg787Lys)
|
rs1202226678
|
0.00001
|
NM_198253.3(TERT):c.2367C>T (p.Ala789=)
|
rs759014638
|
0.00001
|
NM_198253.3(TERT):c.2376C>T (p.Ile792=)
|
rs769431975
|
0.00001
|
NM_198253.3(TERT):c.2379G>A (p.Glu793=)
|
rs1334761065
|
0.00001
|
NM_198253.3(TERT):c.2382+20G>C
|
rs886038759
|
0.00001
|
NM_198253.3(TERT):c.2383-17C>T
|
rs937340337
|
0.00001
|
NM_198253.3(TERT):c.2383-6T>A
|
rs1481236467
|
0.00001
|
NM_198253.3(TERT):c.2388C>G (p.Ser796=)
|
rs950145141
|
0.00001
|
NM_198253.3(TERT):c.2411G>T (p.Gly804Val)
|
rs1442845192
|
0.00001
|
NM_198253.3(TERT):c.2419G>A (p.Asp807Asn)
|
rs1169312254
|
0.00001
|
NM_198253.3(TERT):c.2421C>T (p.Asp807=)
|
rs771997164
|
0.00001
|
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)
|
rs199422301
|
0.00001
|
NM_198253.3(TERT):c.2437A>G (p.Met813Val)
|
rs1749002393
|
0.00001
|
NM_198253.3(TERT):c.2448C>T (p.His816=)
|
rs368279364
|
0.00001
|
NM_198253.3(TERT):c.2452G>A (p.Val818Met)
|
rs1046621943
|
0.00001
|
NM_198253.3(TERT):c.2455C>T (p.Arg819Cys)
|
rs746621306
|
0.00001
|
NM_198253.3(TERT):c.2456G>A (p.Arg819His)
|
rs1343662571
|
0.00001
|
NM_198253.3(TERT):c.2465G>A (p.Gly822Asp)
|
rs757820442
|
0.00001
|
NM_198253.3(TERT):c.2468+13G>C
|
rs750445028
|
0.00001
|
NM_198253.3(TERT):c.2469-12T>C
|
rs753781409
|
0.00001
|
NM_198253.3(TERT):c.2469-8C>T
|
rs755942852
|
0.00001
|
NM_198253.3(TERT):c.2476G>A (p.Val826Ile)
|
rs1060503009
|
0.00001
|
NM_198253.3(TERT):c.2511C>T (p.Leu837=)
|
rs374940572
|
0.00001
|
NM_198253.3(TERT):c.2516C>T (p.Thr839Met)
|
rs748503447
|
0.00001
|
NM_198253.3(TERT):c.2530C>T (p.Leu844=)
|
rs922798759
|
0.00001
|
NM_198253.3(TERT):c.2538C>T (p.Tyr846=)
|
rs778309923
|
0.00001
|
NM_198253.3(TERT):c.2553C>T (p.Asn851=)
|
rs1388291484
|
0.00001
|
NM_198253.3(TERT):c.2564C>T (p.Ala855Val)
|
rs775014633
|
0.00001
|
NM_198253.3(TERT):c.2582+7C>A
|
rs766415474
|
0.00001
|
NM_198253.3(TERT):c.2583-17A>G
|
rs748792817
|
0.00001
|
NM_198253.3(TERT):c.2584C>T (p.Leu862=)
|
rs912022971
|
0.00001
|
NM_198253.3(TERT):c.2594G>A (p.Arg865His)
|
rs121918666
|
0.00001
|
NM_198253.3(TERT):c.260G>A (p.Arg87Lys)
|
rs776383511
|
0.00001
|
NM_198253.3(TERT):c.2639C>T (p.Ala880Val)
|
rs1748613384
|
0.00001
|
NM_198253.3(TERT):c.2644A>T (p.Thr882Ser)
|
rs1263276346
|
0.00001
|
NM_198253.3(TERT):c.264G>C (p.Leu88=)
|
rs768398792
|
0.00001
|
NM_198253.3(TERT):c.2654+14C>T
|
rs754348098
|
0.00001
|
NM_198253.3(TERT):c.2654+9C>T
|
rs1060504793
|
0.00001
|
NM_198253.3(TERT):c.2655-14C>G
|
rs889404514
|
0.00001
|
NM_198253.3(TERT):c.2655-18A>G
|
rs1365689955
|
0.00001
|
NM_198253.3(TERT):c.2655-47_2659dup
|
rs1561193114
|
0.00001
|
NM_198253.3(TERT):c.2655G>C (p.Arg885Ser)
|
rs754372863
|
0.00001
|
NM_198253.3(TERT):c.2661G>T (p.Leu887=)
|
rs756519152
|
0.00001
|
NM_198253.3(TERT):c.2688C>T (p.Cys896=)
|
rs373952421
|
0.00001
|
NM_198253.3(TERT):c.2689G>A (p.Val897Met)
|
rs559028617
|
0.00001
|
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp)
|
rs199422304
|
0.00001
|
NM_198253.3(TERT):c.2702G>A (p.Arg901Gln)
|
rs772974254
|
0.00001
|
NM_198253.3(TERT):c.2712G>A (p.Val904=)
|
rs1748460219
|
0.00001
|
NM_198253.3(TERT):c.2739C>T (p.Ala913=)
|
rs771835512
|
0.00001
|
NM_198253.3(TERT):c.2772C>T (p.Ala924=)
|
rs367672336
|
0.00001
|
NM_198253.3(TERT):c.2776G>A (p.Gly926Ser)
|
rs547377569
|
0.00001
|
NM_198253.3(TERT):c.2781A>G (p.Leu927=)
|
rs370292237
|
0.00001
|
NM_198253.3(TERT):c.2796C>A (p.Gly932=)
|
rs375675196
|
0.00001
|
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)
|
rs1422814635
|
0.00001
|
NM_198253.3(TERT):c.2831G>A (p.Ser944Asn)
|
rs759314942
|
0.00001
|
NM_198253.3(TERT):c.2832C>T (p.Ser944=)
|
rs1192852544
|
0.00001
|
NM_198253.3(TERT):c.2843+11C>G
|
rs749429123
|
0.00001
|
NM_198253.3(TERT):c.2843+9A>G
|
rs1341325168
|
0.00001
|
NM_198253.3(TERT):c.2844-10del
|
rs1396877919
|
0.00001
|
NM_198253.3(TERT):c.2844-11_2844-10del
|
rs773793700
|
0.00001
|
NM_198253.3(TERT):c.2844-14C>G
|
rs763284609
|
0.00001
|
NM_198253.3(TERT):c.2844-17T>G
|
rs774231332
|
0.00001
|
NM_198253.3(TERT):c.2844-18T>C
|
rs985349437
|
0.00001
|
NM_198253.3(TERT):c.2844C>G (p.Ser948Arg)
|
rs34062885
|
0.00001
|
NM_198253.3(TERT):c.2850C>G (p.Ala950=)
|
rs758664162
|
0.00001
|
NM_198253.3(TERT):c.2851C>T (p.Arg951Trp)
|
rs370445231
|
0.00001
|
NM_198253.3(TERT):c.2852G>A (p.Arg951Gln)
|
rs755707625
|
0.00001
|
NM_198253.3(TERT):c.2868C>T (p.Ala956=)
|
rs752210365
|
0.00001
|
NM_198253.3(TERT):c.2905A>C (p.Asn969His)
|
rs1748154333
|
0.00001
|
NM_198253.3(TERT):c.2914C>T (p.Arg972Cys)
|
rs773537902
|
0.00001
|
NM_198253.3(TERT):c.2915G>A (p.Arg972His)
|
rs1278994586
|
0.00001
|
NM_198253.3(TERT):c.2971-15T>C
|
rs1297119063
|
0.00001
|
NM_198253.3(TERT):c.2971-9C>T
|
rs895340018
|
0.00001
|
NM_198253.3(TERT):c.2980C>T (p.Leu994Phe)
|
rs866369624
|
0.00001
|
NM_198253.3(TERT):c.2987C>T (p.Thr996Met)
|
rs1223394183
|
0.00001
|
NM_198253.3(TERT):c.3003C>T (p.Ile1001=)
|
rs1424698843
|
0.00001
|
NM_198253.3(TERT):c.3012C>A (p.Ile1004=)
|
rs1308544817
|
0.00001
|
NM_198253.3(TERT):c.3018G>C (p.Leu1006=)
|
rs941352340
|
0.00001
|
NM_198253.3(TERT):c.3027G>A (p.Ala1009=)
|
rs775582757
|
0.00001
|
NM_198253.3(TERT):c.3032+5G>A
|
rs1187296169
|
0.00001
|
NM_198253.3(TERT):c.3032+7C>T
|
rs371500615
|
0.00001
|
NM_198253.3(TERT):c.3033-12C>T
|
rs779481925
|
0.00001
|
NM_198253.3(TERT):c.3033-20G>A
|
rs941286331
|
0.00001
|
NM_198253.3(TERT):c.3042A>G (p.Ala1014=)
|
rs1337149388
|
0.00001
|
NM_198253.3(TERT):c.3051G>C (p.Leu1017=)
|
rs1297455788
|
0.00001
|
NM_198253.3(TERT):c.3097C>T (p.Leu1033=)
|
rs753691323
|
0.00001
|
NM_198253.3(TERT):c.3101G>A (p.Arg1034His)
|
rs62331332
|
0.00001
|
NM_198253.3(TERT):c.3102C>T (p.Arg1034=)
|
rs752939718
|
0.00001
|
NM_198253.3(TERT):c.3103G>A (p.Val1035Ile)
|
rs374968697
|
0.00001
|
NM_198253.3(TERT):c.3157+3A>T
|
rs369807900
|
0.00001
|
NM_198253.3(TERT):c.3158-12G>C
|
rs1201971387
|
0.00001
|
NM_198253.3(TERT):c.3158-6C>A
|
rs1477263719
|
0.00001
|
NM_198253.3(TERT):c.3158-7C>A
|
rs1191106139
|
0.00001
|
NM_198253.3(TERT):c.3158-9T>C
|
rs1208337438
|
0.00001
|
NM_198253.3(TERT):c.315C>T (p.Asp105=)
|
rs970934345
|
0.00001
|
NM_198253.3(TERT):c.3165G>A (p.Ser1055=)
|
rs554739019
|
0.00001
|
NM_198253.3(TERT):c.316G>C (p.Gly106Arg)
|
rs1751265277
|
0.00001
|
NM_198253.3(TERT):c.3172G>T (p.Ala1058Ser)
|
rs1478959357
|
0.00001
|
NM_198253.3(TERT):c.3183C>T (p.Ala1061=)
|
rs769532174
|
0.00001
|
NM_198253.3(TERT):c.3208G>A (p.Val1070Met)
|
rs1747569185
|
0.00001
|
NM_198253.3(TERT):c.3210G>A (p.Val1070=)
|
rs962079602
|
0.00001
|
NM_198253.3(TERT):c.3252A>G (p.Arg1084=)
|
rs757638312
|
0.00001
|
NM_198253.3(TERT):c.3296-8C>A
|
rs745650415
|
0.00001
|
NM_198253.3(TERT):c.3303G>A (p.Thr1101=)
|
rs551516320
|
0.00001
|
NM_198253.3(TERT):c.330C>T (p.Gly110=)
|
rs778702039
|
0.00001
|
NM_198253.3(TERT):c.3314G>A (p.Arg1105Gln)
|
rs532930887
|
0.00001
|
NM_198253.3(TERT):c.3352G>A (p.Ala1118Thr)
|
rs756628621
|
0.00001
|
NM_198253.3(TERT):c.3378C>T (p.Asp1126=)
|
rs1457310362
|
0.00001
|
NM_198253.3(TERT):c.358C>T (p.Arg120Cys)
|
rs1436692848
|
0.00001
|
NM_198253.3(TERT):c.362G>A (p.Ser121Asn)
|
rs1751257719
|
0.00001
|
NM_198253.3(TERT):c.366C>T (p.Tyr122=)
|
rs1272884946
|
0.00001
|
NM_198253.3(TERT):c.375C>T (p.Asn125=)
|
rs1751256209
|
0.00001
|
NM_198253.3(TERT):c.391C>T (p.Leu131=)
|
rs1018793583
|
0.00001
|
NM_198253.3(TERT):c.396G>A (p.Arg132=)
|
rs1751252495
|
0.00001
|
NM_198253.3(TERT):c.402C>T (p.Ser134=)
|
rs1346841144
|
0.00001
|
NM_198253.3(TERT):c.404G>C (p.Gly135Ala)
|
rs1414898591
|
0.00001
|
NM_198253.3(TERT):c.415C>T (p.Leu139=)
|
rs770240505
|
0.00001
|
NM_198253.3(TERT):c.421C>T (p.Leu141=)
|
rs775225240
|
0.00001
|
NM_198253.3(TERT):c.432G>A (p.Val144=)
|
rs1456482467
|
0.00001
|
NM_198253.3(TERT):c.441C>T (p.Asp147=)
|
rs771765361
|
0.00001
|
NM_198253.3(TERT):c.444G>C (p.Val148=)
|
rs1314321999
|
0.00001
|
NM_198253.3(TERT):c.456G>C (p.Leu152=)
|
rs757121533
|
0.00001
|
NM_198253.3(TERT):c.474C>A (p.Leu158=)
|
rs752933900
|
0.00001
|
NM_198253.3(TERT):c.481C>T (p.Leu161=)
|
rs368291455
|
0.00001
|
NM_198253.3(TERT):c.483G>A (p.Leu161=)
|
rs755155708
|
0.00001
|
NM_198253.3(TERT):c.492C>T (p.Pro164=)
|
rs751568040
|
0.00001
|
NM_198253.3(TERT):c.508G>A (p.Val170Met)
|
rs387907248
|
0.00001
|
NM_198253.3(TERT):c.513C>T (p.Cys171=)
|
rs890346822
|
0.00001
|
NM_198253.3(TERT):c.519G>A (p.Pro173=)
|
rs763396974
|
0.00001
|
NM_198253.3(TERT):c.522G>T (p.Pro174=)
|
rs773784305
|
0.00001
|
NM_198253.3(TERT):c.552C>T (p.Ala184=)
|
rs1751235353
|
0.00001
|
NM_198253.3(TERT):c.554G>T (p.Arg185Leu)
|
rs749187042
|
0.00001
|
NM_198253.3(TERT):c.560C>G (p.Pro187Arg)
|
rs906128293
|
0.00001
|
NM_198253.3(TERT):c.566A>G (p.His189Arg)
|
rs769638625
|
0.00001
|
NM_198253.3(TERT):c.567C>T (p.His189=)
|
rs747935528
|
0.00001
|
NM_198253.3(TERT):c.568G>A (p.Ala190Thr)
|
rs377016753
|
0.00001
|
NM_198253.3(TERT):c.571A>G (p.Ser191Gly)
|
rs1425605385
|
0.00001
|
NM_198253.3(TERT):c.583A>C (p.Arg195=)
|
rs1579598197
|
0.00001
|
NM_198253.3(TERT):c.601C>T (p.Arg201Trp)
|
rs765833936
|
0.00001
|
NM_198253.3(TERT):c.615T>C (p.His205=)
|
rs1380279487
|
0.00001
|
NM_198253.3(TERT):c.630C>T (p.Ala210=)
|
rs1164854748
|
0.00001
|
NM_198253.3(TERT):c.633G>T (p.Gly211=)
|
rs1060504794
|
0.00001
|
NM_198253.3(TERT):c.670C>T (p.Arg224Cys)
|
rs750497661
|
0.00001
|
NM_198253.3(TERT):c.684C>T (p.Ala228=)
|
rs1403152390
|
0.00001
|
NM_198253.3(TERT):c.689G>A (p.Arg230Gln)
|
rs957794083
|
0.00001
|
NM_198253.3(TERT):c.699G>A (p.Pro233=)
|
rs757862712
|
0.00001
|
NM_198253.3(TERT):c.702G>C (p.Leu234Phe)
|
rs754359147
|
0.00001
|
NM_198253.3(TERT):c.705C>A (p.Pro235=)
|
rs1751214858
|
0.00001
|
NM_198253.3(TERT):c.708G>C (p.Lys236Asn)
|
rs1250720718
|
0.00001
|
NM_198253.3(TERT):c.719G>A (p.Arg240His)
|
rs751231538
|
0.00001
|
NM_198253.3(TERT):c.728C>T (p.Ala243Val)
|
rs1346044973
|
0.00001
|
NM_198253.3(TERT):c.729C>T (p.Ala243=)
|
rs762491880
|
0.00001
|
NM_198253.3(TERT):c.736C>T (p.Pro246Ser)
|
rs1379205693
|
0.00001
|
NM_198253.3(TERT):c.746C>T (p.Thr249Met)
|
rs1174718400
|
0.00001
|
NM_198253.3(TERT):c.751G>T (p.Val251Phe)
|
rs776569822
|
0.00001
|
NM_198253.3(TERT):c.758A>G (p.Gln253Arg)
|
rs1172617636
|
0.00001
|
NM_198253.3(TERT):c.760G>A (p.Gly254Arg)
|
rs1439775799
|
0.00001
|
NM_198253.3(TERT):c.762G>A (p.Gly254=)
|
rs768389892
|
0.00001
|
NM_198253.3(TERT):c.76A>G (p.Thr26Ala)
|
rs1579599309
|
0.00001
|
NM_198253.3(TERT):c.770C>G (p.Ala257Gly)
|
rs746814762
|
0.00001
|
NM_198253.3(TERT):c.77C>T (p.Thr26Met)
|
rs760727529
|
0.00001
|
NM_198253.3(TERT):c.800A>G (p.Asp267Gly)
|
rs878855306
|
0.00001
|
NM_198253.3(TERT):c.802C>T (p.Arg268Cys)
|
rs749827230
|
0.00001
|
NM_198253.3(TERT):c.814G>A (p.Val272Met)
|
rs1751201506
|
0.00001
|
NM_198253.3(TERT):c.825T>G (p.Pro275=)
|
rs1469166190
|
0.00001
|
NM_198253.3(TERT):c.833C>T (p.Pro278Leu)
|
rs1474106264
|
0.00001
|
NM_198253.3(TERT):c.837C>T (p.Ala279=)
|
rs1448995569
|
0.00001
|
NM_198253.3(TERT):c.846C>T (p.Ala282=)
|
rs764061395
|
0.00001
|
NM_198253.3(TERT):c.880C>T (p.His294Tyr)
|
rs886059906
|
0.00001
|
NM_198253.3(TERT):c.881A>T (p.His294Leu)
|
rs1240646657
|
0.00001
|
NM_198253.3(TERT):c.892T>A (p.Ser298Thr)
|
rs1334806555
|
0.00001
|
NM_198253.3(TERT):c.895G>A (p.Val299Met)
|
rs756624928
|
0.00001
|
NM_198253.3(TERT):c.900C>T (p.Gly300=)
|
rs987435263
|
0.00001
|
NM_198253.3(TERT):c.907C>A (p.His303Asn)
|
rs376074999
|
0.00001
|
NM_198253.3(TERT):c.918C>A (p.Gly306=)
|
rs919921930
|
0.00001
|
NM_198253.3(TERT):c.922C>G (p.Pro308Ala)
|
rs753366759
|
0.00001
|
NM_198253.3(TERT):c.934C>T (p.Arg312Trp)
|
rs760697425
|
0.00001
|
NM_198253.3(TERT):c.941C>G (p.Pro314Arg)
|
rs1306142415
|
0.00001
|
NM_198253.3(TERT):c.944G>A (p.Arg315His)
|
rs1369958224
|
0.00001
|
NM_198253.3(TERT):c.956C>T (p.Thr319Met)
|
rs1213662764
|
0.00001
|
NM_198253.3(TERT):c.965C>T (p.Pro322Leu)
|
rs1438162956
|
0.00001
|
NM_198253.3(TERT):c.970G>A (p.Val324Met)
|
rs878855307
|
0.00001
|
NM_198253.3(TERT):c.972G>A (p.Val324=)
|
rs1444231737
|
0.00001
|
NM_198253.3(TERT):c.975C>T (p.Tyr325=)
|
rs774784101
|
0.00001
|
NM_198253.3(TERT):c.978C>G (p.Ala326=)
|
rs1435076658
|
0.00001
|
NM_198253.3(TERT):c.978C>T (p.Ala326=)
|
rs1435076658
|
0.00001
|
NM_198253.3(TERT):c.979G>C (p.Glu327Gln)
|
rs371457181
|
0.00001
|
NM_198253.3(TERT):c.988C>A (p.His330Asn)
|
rs1172004659
|
0.00001
|
NC_000005.10:g.(?_1253708)_(1258679_?)dup
|
|
|
NC_000005.10:g.(?_1253708)_(1272300_?)dup
|
|
|
NC_000005.10:g.(?_1253728)_(1253841_?)dup
|
|
|
NC_000005.10:g.(?_1253728)_(1255421_?)dup
|
|
|
NC_000005.10:g.(?_1258588)_(1295046_?)dup
|
|
|
NC_000005.10:g.(?_1280152)_(1280344_?)del
|
|
|
NC_000005.10:g.(?_218346)_(1295046_?)del
|
|
|
NC_000005.10:g.(?_218349)_(1297373_?)del
|
|
|
NC_000005.10:g.(?_218349)_(1297373_?)dup
|
|
|
NC_000005.10:g.1297372_1297373delinsAT
|
rs2126700862
|
|
NC_000005.9:g.(?_1201766)_(1258794_?)dup
|
|
|
NC_000005.9:g.(?_1201766)_(1443312_?)dup
|
|
|
NC_000005.9:g.(?_1253833)_(1253956_?)dup
|
|
|
NC_000005.9:g.(?_1253833)_(1255536_?)dup
|
|
|
NC_000005.9:g.(?_1253833)_(1258784_?)dup
|
|
|
NC_000005.9:g.(?_1253833)_(1272405_?)dup
|
|
|
NC_000005.9:g.(?_1253833)_(1295114_?)dup
|
|
|
NC_000005.9:g.(?_1253833)_(1295161_?)dup
|
|
|
NC_000005.9:g.(?_1253837)_(1295110_?)dup
|
|
|
NC_000005.9:g.(?_1253843)_(1258784_?)dup
|
|
|
NC_000005.9:g.(?_1253843)_(1258794_?)dup
|
|
|
NC_000005.9:g.(?_1253843)_(1264717_?)dup
|
|
|
NC_000005.9:g.(?_1253843)_(1272405_?)dup
|
|
|
NC_000005.9:g.(?_1253843)_(1280463_?)dup
|
|
|
NC_000005.9:g.(?_1253843)_(1297488_?)del
|
|
|
NC_000005.9:g.(?_1253843)_(1297488_?)dup
|
|
|
NC_000005.9:g.(?_1254473)_(1322087_?)dup
|
|
|
NC_000005.9:g.(?_1256219)_(1264507_?)del
|
|
|
NC_000005.9:g.(?_1258693)_(1268768_?)dup
|
|
|
NC_000005.9:g.(?_1266569)_(1297488_?)del
|
|
|
NC_000005.9:g.(?_1268615)_(1268768_?)del
|
|
|
NC_000005.9:g.(?_1271224)_(1297488_?)dup
|
|
|
NC_000005.9:g.(?_1278746)_(1297488_?)dup
|
|
|
NC_000005.9:g.(?_1279790)_(1280463_?)del
|
|
|
NC_000005.9:g.(?_1282524)_(1282759_?)dup
|
|
|
NC_000005.9:g.(?_1282524)_(1297488_?)del
|
|
|
NC_000005.9:g.(?_1282603)_(1283866_?)del
|
|
|
NC_000005.9:g.(?_1287194)_(1297488_?)del
|
|
|
NC_000005.9:g.(?_1293408)_(1443312_?)dup
|
|
|
NC_000005.9:g.(?_1293418)_(1295161_?)dup
|
|
|
NC_000005.9:g.(?_482643)_(1895829_?)del
|
|
|
NC_000005.9:g.(?_893114)_(1272415_?)dup
|
|
|
NC_000008.11:g.22165138del
|
rs148697295
|
|
NC_000011.10:g.1219991G>T
|
rs35705950
|
|
NC_000016.10:g.(?_14436697)_(14609143_?)dup
|
|
|
NC_000016.9:g.(?_14530574)_(14530649_?)dup
|
|
|
NC_000016.9:g.(?_14530574)_(14540958_?)dup
|
|
|
NC_000016.9:g.(?_14530574)_(14576704_?)dup
|
|
|
NC_000016.9:g.(?_14530574)_(14724045_?)del
|
|
|
NC_000016.9:g.(?_14530574)_(14724045_?)dup
|
|
|
NC_000016.9:g.(?_14540725)_(14576704_?)dup
|
|
|
NC_000016.9:g.(?_14645858)_(14649586_?)dup
|
|
|
NC_000016.9:g.(?_14645858)_(14711527_?)del
|
|
|
NC_000016.9:g.(?_14645858)_(14724045_?)del
|
|
|
NC_000016.9:g.(?_14645858)_(14724045_?)dup
|
|
|
NC_000016.9:g.(?_14645868)_(14711517_?)dup
|
|
|
NC_000016.9:g.(?_14674711)_(14724002_?)dup
|
|
|
NC_000016.9:g.(?_14693741)_(14700403_?)del
|
|
|
NC_000016.9:g.(?_14693741)_(14704686_?)dup
|
|
|
NC_000016.9:g.(?_14693751)_(14724045_?)dup
|
|
|
NC_000016.9:g.(?_14704491)_(14704676_?)del
|
|
|
NC_000016.9:g.(?_14711427)_(14711527_?)del
|
|
|
NC_000016.9:g.(?_14711427)_(14711527_?)dup
|
|
|
NC_000016.9:g.(?_14711427)_(14724045_?)del
|
|
|
NC_000016.9:g.(?_14711427)_(14724045_?)dup
|
|
|
NC_000016.9:g.(?_14720953)_(14721203_?)del
|
|
|
NC_000016.9:g.(?_14723944)_(14724045_?)dup
|
|
|
NC_000016.9:g.(?_14725823)_(14643928_?)del
|
|
|
NC_000020.10:g.(?_61978090)_(62324656_?)dup
|
|
|
NC_000020.10:g.(?_61987307)_(62329916_?)del
|
|
|
NC_000020.10:g.(?_62075992)_(62324656_?)del
|
|
|
NC_000020.10:g.(?_62290736)_(62327158_?)dup
|
|
|
NC_000020.10:g.(?_62290746)_(62290867_?)del
|
|
|
NC_000020.10:g.(?_62290746)_(62312082_?)del
|
|
|
NC_000020.10:g.(?_62290756)_(62297442_?)dup
|
|
|
NC_000020.10:g.(?_62290756)_(62324646_?)del
|
|
|
NC_000020.10:g.(?_62290756)_(62327211_?)dup
|
|
|
NC_000020.10:g.(?_62290756)_(62328484_?)dup
|
|
|
NC_000020.10:g.(?_62292641)_(62327221_?)del
|
|
|
NC_000020.10:g.(?_62298812)_(62298916_?)del
|
|
|
NC_000020.10:g.(?_62298812)_(62298916_?)dup
|
|
|
NC_000020.10:g.(?_62298812)_(62303984_?)del
|
|
|
NC_000020.10:g.(?_62303889)_(62305466_?)del
|
|
|
NC_000020.10:g.(?_62303889)_(62312092_?)del
|
|
|
NC_000020.10:g.(?_62309478)_(62324656_?)del
|
|
|
NC_000020.10:g.(?_62309478)_(62329916_?)del
|
|
|
NC_000020.10:g.(?_62309488)_(62312082_?)del
|
|
|
NC_000020.10:g.(?_62309488)_(62312082_?)dup
|
|
|
NC_000020.10:g.(?_62316041)_(62319096_?)del
|
|
|
NC_000020.10:g.(?_62316856)_(62327211_?)del
|
|
|
NC_000020.10:g.(?_62324287)_(62324806_?)del
|
|
|
NC_000020.10:g.(?_62325705)_(62329916_?)dup
|
|
|
NC_000020.10:g.(?_62325715)_(62326337_?)del
|
|
|
NC_000020.11:g.(?_63659403)_(63693293_?)dup
|
|
|
NC_000020.11:g.63692805GAG[1]
|
rs2145445535
|
|
NM_001079668.3(NKX2-1):c.396C>A (p.Asp132Glu)
|
|
|
NM_001079668.3(NKX2-1):c.532G>A (p.Asp178Asn)
|
|
|
NM_001079668.3(NKX2-1):c.631A>G (p.Lys211Glu)
|
|
|
NM_001079668.3(NKX2-1):c.67G>C (p.Gly23Arg)
|
|
|
NM_001079668.3(NKX2-1):c.781C>A (p.Gln261Lys)
|
|
|
NM_001089.3(ABCA3):c.1432T>C (p.Phe478Leu)
|
|
|
NM_001089.3(ABCA3):c.1780G>A (p.Gly594Arg)
|
|
|
NM_001089.3(ABCA3):c.1819A>G (p.Ser607Gly)
|
|
|
NM_001089.3(ABCA3):c.2172C>G (p.Asp724Glu)
|
rs200855390
|
|
NM_001089.3(ABCA3):c.2200G>A (p.Ala734Thr)
|
|
|
NM_001089.3(ABCA3):c.3977C>A (p.Thr1326Asn)
|
|
|
NM_001089.3(ABCA3):c.4451G>A (p.Arg1484Gln)
|
|
|
NM_001089.3(ABCA3):c.4797G>C (p.Gln1599His)
|
|
|
NM_001089.3(ABCA3):c.4885dup (p.Ala1629fs)
|
rs2093649055
|
|
NM_001089.3(ABCA3):c.59G>T (p.Arg20Leu)
|
|
|
NM_001098668.4(SFTPA2):c.-23-5G>A
|
rs1650232
|
|
NM_001098668.4(SFTPA2):c.171A>G (p.Pro57=)
|
|
|
NM_001098668.4(SFTPA2):c.460G>C (p.Ala154Pro)
|
|
|
NM_001098668.4(SFTPA2):c.512A>T (p.Asn171Ile)
|
rs2132046635
|
|
NM_001098668.4(SFTPA2):c.530T>A (p.Phe177Tyr)
|
|
|
NM_001098668.4(SFTPA2):c.557A>G (p.Tyr186Cys)
|
|
|
NM_001098668.4(SFTPA2):c.593T>C (p.Phe198Ser)
|
rs121917738
|
|
NM_001098668.4(SFTPA2):c.656G>T (p.Arg219Leu)
|
|
|
NM_001098668.4(SFTPA2):c.676G>A (p.Glu226Lys)
|
|
|
NM_001098668.4(SFTPA2):c.692G>T (p.Gly231Val)
|
rs121917737
|
|
NM_001098668.4(SFTPA2):c.697T>A (p.Trp233Arg)
|
rs2132045183
|
|
NM_001283009.2(RTEL1):c.1001_1014del (p.Leu334fs)
|
rs1601133145
|
|
NM_001283009.2(RTEL1):c.1002G>T (p.Leu334=)
|
rs1555902826
|
|
NM_001283009.2(RTEL1):c.1008A>G (p.Gly336=)
|
rs2090399354
|
|
NM_001283009.2(RTEL1):c.1009G>T (p.Asp337Tyr)
|
|
|
NM_001283009.2(RTEL1):c.1014C>T (p.Asp338=)
|
rs2146211321
|
|
NM_001283009.2(RTEL1):c.1016G>C (p.Ser339Thr)
|
|
|
NM_001283009.2(RTEL1):c.1017C>A (p.Ser339Arg)
|
|
|
NM_001283009.2(RTEL1):c.1019G>C (p.Gly340Ala)
|
|
|
NM_001283009.2(RTEL1):c.101_102+16dup
|
rs1478655064
|
|
NM_001283009.2(RTEL1):c.102+12G>A
|
|
|
NM_001283009.2(RTEL1):c.102+13C>T
|
rs757731065
|
|
NM_001283009.2(RTEL1):c.102+14C>G
|
|
|
NM_001283009.2(RTEL1):c.102+15C>G
|
|
|
NM_001283009.2(RTEL1):c.102+16C>T
|
|
|
NM_001283009.2(RTEL1):c.102+17G>A
|
|
|
NM_001283009.2(RTEL1):c.102+17G>C
|
rs1305231385
|
|
NM_001283009.2(RTEL1):c.102+17G>T
|
|
|
NM_001283009.2(RTEL1):c.102+17_102+18insTG
|
rs757708000
|
|
NM_001283009.2(RTEL1):c.102+20G>A
|
|
|
NM_001283009.2(RTEL1):c.102+3AG[3]
|
rs1555899112
|
|
NM_001283009.2(RTEL1):c.102+7C>T
|
|
|
NM_001283009.2(RTEL1):c.102+9C>G
|
rs760616462
|
|
NM_001283009.2(RTEL1):c.1022T>C (p.Val341Ala)
|
|
|
NM_001283009.2(RTEL1):c.1023C>T (p.Val341=)
|
rs1251256275
|
|
NM_001283009.2(RTEL1):c.1026C>T (p.Thr342=)
|
rs1420671075
|
|
NM_001283009.2(RTEL1):c.1029G>A (p.Lys343=)
|
|
|
NM_001283009.2(RTEL1):c.103-12_103-6dup
|
|
|
NM_001283009.2(RTEL1):c.103-14C>T
|
|
|
NM_001283009.2(RTEL1):c.103-15C>G
|
rs1292134264
|
|
NM_001283009.2(RTEL1):c.103-15C>T
|
rs1292134264
|
|
NM_001283009.2(RTEL1):c.103-16T>C
|
|
|
NM_001283009.2(RTEL1):c.103-7C>G
|
|
|
NM_001283009.2(RTEL1):c.103-7del
|
|
|
NM_001283009.2(RTEL1):c.103-8C>T
|
rs1357456579
|
|
NM_001283009.2(RTEL1):c.103-9T>C
|
rs2146148418
|
|
NM_001283009.2(RTEL1):c.1030C>G (p.Pro344Ala)
|
|
|
NM_001283009.2(RTEL1):c.1030C>T (p.Pro344Ser)
|
rs147789792
|
|
NM_001283009.2(RTEL1):c.1037+11G>C
|
|
|
NM_001283009.2(RTEL1):c.1037+13G>A
|
|
|
NM_001283009.2(RTEL1):c.1037+17C>T
|
|
|
NM_001283009.2(RTEL1):c.1037+18A>G
|
|
|
NM_001283009.2(RTEL1):c.1037+19G>A
|
|
|
NM_001283009.2(RTEL1):c.1037+20C>G
|
rs2146211496
|
|
NM_001283009.2(RTEL1):c.1037+7G>A
|
|
|
NM_001283009.2(RTEL1):c.1037+8G>A
|
|
|
NM_001283009.2(RTEL1):c.1037+9C>A
|
|
|
NM_001283009.2(RTEL1):c.1037+9C>T
|
|
|
NM_001283009.2(RTEL1):c.1038-11C>G
|
|
|
NM_001283009.2(RTEL1):c.1038-11C>T
|
rs2146217189
|
|
NM_001283009.2(RTEL1):c.1038-12T>C
|
|
|
NM_001283009.2(RTEL1):c.1038-13T>C
|
rs2146217181
|
|
NM_001283009.2(RTEL1):c.1038-16_1038-15delinsGC
|
rs2146217150
|
|
NM_001283009.2(RTEL1):c.1038-16_1038-15insG
|
|
|
NM_001283009.2(RTEL1):c.1038-19G>A
|
|
|
NM_001283009.2(RTEL1):c.1038-2A>G
|
|
|
NM_001283009.2(RTEL1):c.1038-5G>A
|
|
|
NM_001283009.2(RTEL1):c.1038-8_1038-6del
|
rs1267375602
|
|
NM_001283009.2(RTEL1):c.1038-9C>T
|
|
|
NM_001283009.2(RTEL1):c.1039T>C (p.Tyr347His)
|
|
|
NM_001283009.2(RTEL1):c.1040A>G (p.Tyr347Cys)
|
rs769658909
|
|
NM_001283009.2(RTEL1):c.1041C>T (p.Tyr347=)
|
rs2090446510
|
|
NM_001283009.2(RTEL1):c.1044C>T (p.Ile348=)
|
|
|
NM_001283009.2(RTEL1):c.1047T>C (p.Phe349=)
|
|
|
NM_001283009.2(RTEL1):c.1050G>A (p.Glu350=)
|
|
|
NM_001283009.2(RTEL1):c.1056T>C (p.Phe352=)
|
rs2146217252
|
|
NM_001283009.2(RTEL1):c.1060G>A (p.Glu354Lys)
|
|
|
NM_001283009.2(RTEL1):c.1068G>C (p.Gln356His)
|
|
|
NM_001283009.2(RTEL1):c.1071C>G (p.Ile357Met)
|
|
|
NM_001283009.2(RTEL1):c.1074G>A (p.Thr358=)
|
rs375256851
|
|
NM_001283009.2(RTEL1):c.1077T>G (p.Phe359Leu)
|
|
|
NM_001283009.2(RTEL1):c.1083C>G (p.Thr361=)
|
|
|
NM_001283009.2(RTEL1):c.1088G>A (p.Gly363Asp)
|
|
|
NM_001283009.2(RTEL1):c.1089C>T (p.Gly363=)
|
rs1601138671
|
|
NM_001283009.2(RTEL1):c.1092C>T (p.Cys364=)
|
|
|
NM_001283009.2(RTEL1):c.1096C>T (p.Leu366=)
|
rs1195979662
|
|
NM_001283009.2(RTEL1):c.1101C>T (p.Asp367=)
|
|
|
NM_001283009.2(RTEL1):c.1103C>A (p.Ser368Ter)
|
|
|
NM_001283009.2(RTEL1):c.1107G>A (p.Leu369=)
|
rs1601138735
|
|
NM_001283009.2(RTEL1):c.110A>G (p.Asn37Ser)
|
|
|
NM_001283009.2(RTEL1):c.1110C>T (p.Asp370=)
|
rs2090447523
|
|
NM_001283009.2(RTEL1):c.1111C>G (p.Gln371Glu)
|
|
|
NM_001283009.2(RTEL1):c.1111C>T (p.Gln371Ter)
|
|
|
NM_001283009.2(RTEL1):c.1119C>T (p.Ile373=)
|
rs2146217386
|
|
NM_001283009.2(RTEL1):c.1120C>T (p.Gln374Ter)
|
|
|
NM_001283009.2(RTEL1):c.1123C>T (p.His375Tyr)
|
|
|
NM_001283009.2(RTEL1):c.1125C>T (p.His375=)
|
rs2090447629
|
|
NM_001283009.2(RTEL1):c.1128G>A (p.Leu376=)
|
|
|
NM_001283009.2(RTEL1):c.1133G>A (p.Gly378Glu)
|
|
|
NM_001283009.2(RTEL1):c.1135+10G>A
|
rs754588541
|
|
NM_001283009.2(RTEL1):c.1135+11G>A
|
|
|
NM_001283009.2(RTEL1):c.1135+12C>T
|
|
|
NM_001283009.2(RTEL1):c.1135+12_1135+17dup
|
rs2146217458
|
|
NM_001283009.2(RTEL1):c.1135+17G>A
|
|
|
NM_001283009.2(RTEL1):c.1135+1G>A
|
rs1555903332
|
|
NM_001283009.2(RTEL1):c.1135+20C>G
|
|
|
NM_001283009.2(RTEL1):c.1135+7G>A
|
|
|
NM_001283009.2(RTEL1):c.1135+8C>T
|
rs751931589
|
|
NM_001283009.2(RTEL1):c.1135+9T>A
|
rs1250696685
|
|
NM_001283009.2(RTEL1):c.1135+9T>C
|
|
|
NM_001283009.2(RTEL1):c.1136-10T>C
|
rs1430364226
|
|
NM_001283009.2(RTEL1):c.1136-11C>T
|
rs748816887
|
|
NM_001283009.2(RTEL1):c.1136-12G>C
|
|
|
NM_001283009.2(RTEL1):c.1136-17G>A
|
|
|
NM_001283009.2(RTEL1):c.1136-19G>A
|
|
|
NM_001283009.2(RTEL1):c.1136-4C>T
|
|
|
NM_001283009.2(RTEL1):c.1136-5T>A
|
|
|
NM_001283009.2(RTEL1):c.1136-5T>C
|
|
|
NM_001283009.2(RTEL1):c.1136-7C>T
|
|
|
NM_001283009.2(RTEL1):c.1136-8C>T
|
|
|
NM_001283009.2(RTEL1):c.1136-9G>T
|
|
|
NM_001283009.2(RTEL1):c.1137T>C (p.Arg379=)
|
|
|
NM_001283009.2(RTEL1):c.1139C>G (p.Ala380Gly)
|
|
|
NM_001283009.2(RTEL1):c.1139C>T (p.Ala380Val)
|
rs770836729
|
|
NM_001283009.2(RTEL1):c.1143A>G (p.Gly381=)
|
|
|
NM_001283009.2(RTEL1):c.1144G>C (p.Val382Leu)
|
|
|
NM_001283009.2(RTEL1):c.1145T>C (p.Val382Ala)
|
|
|
NM_001283009.2(RTEL1):c.1149C>G (p.Phe383Leu)
|
|
|
NM_001283009.2(RTEL1):c.1149C>T (p.Phe383=)
|
|
|
NM_001283009.2(RTEL1):c.1152C>T (p.Thr384=)
|
|
|
NM_001283009.2(RTEL1):c.1159G>A (p.Ala387Thr)
|
rs2146220003
|
|
NM_001283009.2(RTEL1):c.1167G>A (p.Leu389=)
|
|
|
NM_001283009.2(RTEL1):c.1174C>T (p.Leu392=)
|
|
|
NM_001283009.2(RTEL1):c.1176G>A (p.Leu392=)
|
rs2090461502
|
|
NM_001283009.2(RTEL1):c.1182C>T (p.Asp394=)
|
|
|
NM_001283009.2(RTEL1):c.1191+10G>C
|
rs2146220136
|
|
NM_001283009.2(RTEL1):c.1191+13C>T
|
|
|
NM_001283009.2(RTEL1):c.1191+14C>T
|
|
|
NM_001283009.2(RTEL1):c.1191+1G>A
|
rs2090461817
|
|
NM_001283009.2(RTEL1):c.1191+1G>C
|
rs2090461817
|
|
NM_001283009.2(RTEL1):c.1191+4G>C
|
|
|
NM_001283009.2(RTEL1):c.1191+8C>T
|
rs767844458
|
|
NM_001283009.2(RTEL1):c.1191+9T>C
|
|
|
NM_001283009.2(RTEL1):c.1191+9dup
|
rs2146220115
|
|
NM_001283009.2(RTEL1):c.1192-11C>A
|
|
|
NM_001283009.2(RTEL1):c.1192-13C>G
|
|
|
NM_001283009.2(RTEL1):c.1192-13C>T
|
rs200449854
|
|
NM_001283009.2(RTEL1):c.1192-14C>T
|
|
|
NM_001283009.2(RTEL1):c.1192-17C>A
|
|
|
NM_001283009.2(RTEL1):c.1192-17C>T
|
|
|
NM_001283009.2(RTEL1):c.1192-19C>T
|
|
|
NM_001283009.2(RTEL1):c.1192-2A>G
|
rs2145411185
|
|
NM_001283009.2(RTEL1):c.1192-3C>T
|
rs2145411176
|
|
NM_001283009.2(RTEL1):c.1192-7C>T
|
|
|
NM_001283009.2(RTEL1):c.1192-8C>T
|
|
|
NM_001283009.2(RTEL1):c.1194del (p.Ile398fs)
|
rs2145411193
|
|
NM_001283009.2(RTEL1):c.1201A>G (p.Ser401Gly)
|
|
|
NM_001283009.2(RTEL1):c.1201A>T (p.Ser401Cys)
|
|
|
NM_001283009.2(RTEL1):c.1203T>C (p.Ser401=)
|
rs2145411213
|
|
NM_001283009.2(RTEL1):c.1206G>T (p.Val402=)
|
rs2145411236
|
|
NM_001283009.2(RTEL1):c.1209C>A (p.Asp403Glu)
|
rs781077567
|
|
NM_001283009.2(RTEL1):c.120G>A (p.Leu40=)
|
rs1555899465
|
|
NM_001283009.2(RTEL1):c.1210C>A (p.Pro404Thr)
|
rs2090573551
|
|
NM_001283009.2(RTEL1):c.1212C>T (p.Pro404=)
|
|
|
NM_001283009.2(RTEL1):c.1213T>G (p.Ser405Ala)
|
|
|
NM_001283009.2(RTEL1):c.1214C>T (p.Ser405Phe)
|
|
|
NM_001283009.2(RTEL1):c.1215dup (p.Glu406fs)
|
|
|
NM_001283009.2(RTEL1):c.1216del (p.Glu406fs)
|
rs2145411302
|
|
NM_001283009.2(RTEL1):c.1228_1266+39del
|
rs2090573767
|
|
NM_001283009.2(RTEL1):c.1229G>C (p.Gly410Ala)
|
|
|
NM_001283009.2(RTEL1):c.1233C>T (p.Ser411=)
|
|
|
NM_001283009.2(RTEL1):c.1236_1266+47del
|
rs1568703403
|
|
NM_001283009.2(RTEL1):c.1242G>T (p.Gly414=)
|
|
|
NM_001283009.2(RTEL1):c.1244dup (p.Ala417fs)
|
rs2145411399
|
|
NM_001283009.2(RTEL1):c.1246G>A (p.Gly416Arg)
|
rs772510897
|
|
NM_001283009.2(RTEL1):c.1248G>A (p.Gly416=)
|
|
|
NM_001283009.2(RTEL1):c.1249G>A (p.Ala417Thr)
|
|
|
NM_001283009.2(RTEL1):c.1252T>C (p.Leu418=)
|
|
|
NM_001283009.2(RTEL1):c.1255C>A (p.Gln419Lys)
|
|
|
NM_001283009.2(RTEL1):c.1255C>G (p.Gln419Glu)
|
|
|
NM_001283009.2(RTEL1):c.1257G>A (p.Gln419=)
|
rs2145411459
|
|
NM_001283009.2(RTEL1):c.1259C>T (p.Ser420Phe)
|
|
|
NM_001283009.2(RTEL1):c.1260C>A (p.Ser420=)
|
|
|
NM_001283009.2(RTEL1):c.1261T>C (p.Tyr421His)
|
|
|
NM_001283009.2(RTEL1):c.1262A>C (p.Tyr421Ser)
|
|
|
NM_001283009.2(RTEL1):c.1262A>G (p.Tyr421Cys)
|
|
|
NM_001283009.2(RTEL1):c.1263T>A (p.Tyr421Ter)
|
rs2145411479
|
|
NM_001283009.2(RTEL1):c.1263T>C (p.Tyr421=)
|
|
|
NM_001283009.2(RTEL1):c.1266+10A>G
|
rs2145411553
|
|
NM_001283009.2(RTEL1):c.1266+11C>A
|
|
|
NM_001283009.2(RTEL1):c.1266+12C>T
|
|
|
NM_001283009.2(RTEL1):c.1266+17G>C
|
|
|
NM_001283009.2(RTEL1):c.1266+18G>A
|
|
|
NM_001283009.2(RTEL1):c.1266+20G>A
|
|
|
NM_001283009.2(RTEL1):c.1266+29_1267-88del
|
rs1568703547
|
|
NM_001283009.2(RTEL1):c.1266+3_1266+80del
|
rs2090574236
|
|
NM_001283009.2(RTEL1):c.1266+3del
|
|
|
NM_001283009.2(RTEL1):c.1266+6G>A
|
|
|
NM_001283009.2(RTEL1):c.1266+7G>A
|
|
|
NM_001283009.2(RTEL1):c.1266+8C>T
|
|
|
NM_001283009.2(RTEL1):c.1266+9C>T
|
rs1601156030
|
|
NM_001283009.2(RTEL1):c.1267-10del
|
|
|
NM_001283009.2(RTEL1):c.1267-11G>C
|
|
|
NM_001283009.2(RTEL1):c.1267-14C>G
|
|
|
NM_001283009.2(RTEL1):c.1267-14C>T
|
|
|
NM_001283009.2(RTEL1):c.1267-16G>A
|
|
|
NM_001283009.2(RTEL1):c.1267-17G>T
|
|
|
NM_001283009.2(RTEL1):c.1267-20C>A
|
|
|
NM_001283009.2(RTEL1):c.1267-4C>T
|
|
|
NM_001283009.2(RTEL1):c.1267-6del
|
rs769812313
|
|
NM_001283009.2(RTEL1):c.1267-8C>G
|
|
|
NM_001283009.2(RTEL1):c.1267-8C>T
|
rs2090579465
|
|
NM_001283009.2(RTEL1):c.1267G>A (p.Val423Met)
|
|
|
NM_001283009.2(RTEL1):c.1269G>C (p.Val423=)
|
rs1486180842
|
|
NM_001283009.2(RTEL1):c.126C>T (p.Ser42=)
|
rs2090015969
|
|
NM_001283009.2(RTEL1):c.1270C>T (p.His424Tyr)
|
rs1568703945
|
|
NM_001283009.2(RTEL1):c.1271A>T (p.His424Leu)
|
|
|
NM_001283009.2(RTEL1):c.1275C>A (p.Ile425=)
|
|
|
NM_001283009.2(RTEL1):c.1276C>T (p.His426Tyr)
|
|
|
NM_001283009.2(RTEL1):c.127C>T (p.Pro43Ser)
|
|
|
NM_001283009.2(RTEL1):c.1282G>T (p.Asp428Tyr)
|
|
|
NM_001283009.2(RTEL1):c.1286C>A (p.Ala429Asp)
|
|
|
NM_001283009.2(RTEL1):c.1286C>G (p.Ala429Gly)
|
rs149428839
|
|
NM_001283009.2(RTEL1):c.1289G>T (p.Gly430Val)
|
|
|
NM_001283009.2(RTEL1):c.1292A>T (p.His431Leu)
|
|
|
NM_001283009.2(RTEL1):c.1293C>T (p.His431=)
|
|
|
NM_001283009.2(RTEL1):c.1295G>A (p.Arg432Gln)
|
|
|
NM_001283009.2(RTEL1):c.1299G>A (p.Arg433=)
|
|
|
NM_001283009.2(RTEL1):c.129T>A (p.Pro43=)
|
rs544841425
|
|
NM_001283009.2(RTEL1):c.129T>G (p.Pro43=)
|
|
|
NM_001283009.2(RTEL1):c.1302G>A (p.Thr434=)
|
rs200709485
|
|
NM_001283009.2(RTEL1):c.1302G>T (p.Thr434=)
|
rs200709485
|
|
NM_001283009.2(RTEL1):c.1304C>A (p.Ala435Asp)
|
|
|
NM_001283009.2(RTEL1):c.1309C>T (p.Arg437Trp)
|
|
|
NM_001283009.2(RTEL1):c.1310G>A (p.Arg437Gln)
|
rs537151019
|
|
NM_001283009.2(RTEL1):c.1311G>A (p.Arg437=)
|
rs373693726
|
|
NM_001283009.2(RTEL1):c.1318G>T (p.Ala440Ser)
|
|
|
NM_001283009.2(RTEL1):c.1319C>G (p.Ala440Gly)
|
|
|
NM_001283009.2(RTEL1):c.1323G>T (p.Trp441Cys)
|
rs2090580676
|
|
NM_001283009.2(RTEL1):c.1329C>T (p.Thr443=)
|
|
|
NM_001283009.2(RTEL1):c.132G>A (p.Thr44=)
|
rs377454469
|
|
NM_001283009.2(RTEL1):c.132G>C (p.Thr44=)
|
|
|
NM_001283009.2(RTEL1):c.1331C>A (p.Thr444Asn)
|
|
|
NM_001283009.2(RTEL1):c.1332T>A (p.Thr444=)
|
rs753642100
|
|
NM_001283009.2(RTEL1):c.1332T>C (p.Thr444=)
|
|
|
NM_001283009.2(RTEL1):c.1333G>A (p.Ala445Thr)
|
|
|
NM_001283009.2(RTEL1):c.1344G>A (p.Lys448=)
|
rs755129499
|
|
NM_001283009.2(RTEL1):c.1345C>T (p.Arg449Ter)
|
|
|
NM_001283009.2(RTEL1):c.1348+10T>A
|
|
|
NM_001283009.2(RTEL1):c.1348+12G>T
|
|
|
NM_001283009.2(RTEL1):c.1348+13G>A
|
|
|
NM_001283009.2(RTEL1):c.1348+14C>T
|
rs1183912815
|
|
NM_001283009.2(RTEL1):c.1348+15C>T
|
|
|
NM_001283009.2(RTEL1):c.1348+16_1348+18del
|
|
|
NM_001283009.2(RTEL1):c.1348+18C>T
|
|
|
NM_001283009.2(RTEL1):c.1348+19A>T
|
|
|
NM_001283009.2(RTEL1):c.1348+1G>T
|
rs2145412626
|
|
NM_001283009.2(RTEL1):c.1348+3A>G
|
|
|
NM_001283009.2(RTEL1):c.1348+4C>T
|
|
|
NM_001283009.2(RTEL1):c.1348+6G>T
|
rs371358328
|
|
NM_001283009.2(RTEL1):c.1348+9C>G
|
|
|
NM_001283009.2(RTEL1):c.1349-10dup
|
|
|
NM_001283009.2(RTEL1):c.1349-13C>G
|
rs376698655
|
|
NM_001283009.2(RTEL1):c.1349-14_1349-13delinsTT
|
rs2145419536
|
|
NM_001283009.2(RTEL1):c.1349-15C>G
|
|
|
NM_001283009.2(RTEL1):c.1349-15C>T
|
|
|
NM_001283009.2(RTEL1):c.1349-18CCGCCCC[3]
|
|
|
NM_001283009.2(RTEL1):c.1349-19G>T
|
|
|
NM_001283009.2(RTEL1):c.1349-4A>C
|
|
|
NM_001283009.2(RTEL1):c.1349-5C>A
|
|
|
NM_001283009.2(RTEL1):c.1349-7C>G
|
|
|
NM_001283009.2(RTEL1):c.1349-8C>T
|
|
|
NM_001283009.2(RTEL1):c.1349-9G>C
|
rs772899702
|
|
NM_001283009.2(RTEL1):c.1352A>G (p.Lys451Arg)
|
|
|
NM_001283009.2(RTEL1):c.1356G>A (p.Val452=)
|
|
|
NM_001283009.2(RTEL1):c.1364A>C (p.Tyr455Ser)
|
|
|
NM_001283009.2(RTEL1):c.1364A>G (p.Tyr455Cys)
|
|
|
NM_001283009.2(RTEL1):c.1365C>T (p.Tyr455=)
|
rs1189837200
|
|
NM_001283009.2(RTEL1):c.1367G>A (p.Trp456Ter)
|
|
|
NM_001283009.2(RTEL1):c.1378C>A (p.Pro460Thr)
|
|
|
NM_001283009.2(RTEL1):c.1380C>A (p.Pro460=)
|
|
|
NM_001283009.2(RTEL1):c.1383C>T (p.Gly461=)
|
|
|
NM_001283009.2(RTEL1):c.1386C>T (p.His462=)
|
|
|
NM_001283009.2(RTEL1):c.138A>G (p.Thr46=)
|
|
|
NM_001283009.2(RTEL1):c.1395C>A (p.His465Gln)
|
|
|
NM_001283009.2(RTEL1):c.1396G>A (p.Glu466Lys)
|
rs1219409480
|
|
NM_001283009.2(RTEL1):c.1398G>A (p.Glu466=)
|
|
|
NM_001283009.2(RTEL1):c.1401G>C (p.Leu467=)
|
rs1601162484
|
|
NM_001283009.2(RTEL1):c.1401G>T (p.Leu467=)
|
rs1601162484
|
|
NM_001283009.2(RTEL1):c.1403T>G (p.Val468Gly)
|
rs2145419818
|
|
NM_001283009.2(RTEL1):c.1404C>T (p.Val468=)
|
|
|
NM_001283009.2(RTEL1):c.1405C>T (p.Arg469Cys)
|
|
|
NM_001283009.2(RTEL1):c.1406G>A (p.Arg469His)
|
|
|
NM_001283009.2(RTEL1):c.1406G>T (p.Arg469Leu)
|
rs779627326
|
|
NM_001283009.2(RTEL1):c.1407C>T (p.Arg469=)
|
|
|
NM_001283009.2(RTEL1):c.1410G>T (p.Gln470His)
|
|
|
NM_001283009.2(RTEL1):c.1418G>A (p.Arg473His)
|
|
|
NM_001283009.2(RTEL1):c.1419C>A (p.Arg473=)
|
rs117195545
|
|
NM_001283009.2(RTEL1):c.1419dup (p.Ser474fs)
|
|
|
NM_001283009.2(RTEL1):c.1440C>A (p.Gly480=)
|
|
|
NM_001283009.2(RTEL1):c.1443G>T (p.Thr481=)
|
|
|
NM_001283009.2(RTEL1):c.1448C>T (p.Ala483Val)
|
rs2090629357
|
|
NM_001283009.2(RTEL1):c.1449C>T (p.Ala483=)
|
|
|
NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu)
|
rs786205700
|
|
NM_001283009.2(RTEL1):c.1452G>C (p.Pro484=)
|
rs201307924
|
|
NM_001283009.2(RTEL1):c.1458C>G (p.Ser486=)
|
|
|
NM_001283009.2(RTEL1):c.1458del (p.Ser487fs)
|
rs2090629495
|
|
NM_001283009.2(RTEL1):c.1461C>G (p.Ser487=)
|
|
|
NM_001283009.2(RTEL1):c.1467T>A (p.Ala489=)
|
rs753978578
|
|
NM_001283009.2(RTEL1):c.1468C>T (p.Leu490=)
|
|
|
NM_001283009.2(RTEL1):c.1469T>C (p.Leu490Pro)
|
rs2145420008
|
|
NM_001283009.2(RTEL1):c.1474A>T (p.Met492Leu)
|
|
|
NM_001283009.2(RTEL1):c.1479G>A (p.Gln493=)
|
|
|
NM_001283009.2(RTEL1):c.1479G>C (p.Gln493His)
|
rs999309460
|
|
NM_001283009.2(RTEL1):c.1481+11C>T
|
|
|
NM_001283009.2(RTEL1):c.1481+13C>T
|
|
|
NM_001283009.2(RTEL1):c.1481+15_1481+16del
|
|
|
NM_001283009.2(RTEL1):c.1481+17C>T
|
|
|
NM_001283009.2(RTEL1):c.1481+20G>A
|
|
|
NM_001283009.2(RTEL1):c.1481+4C>T
|
|
|
NM_001283009.2(RTEL1):c.1481+6G>A
|
|
|
NM_001283009.2(RTEL1):c.1481+8C>A
|
|
|
NM_001283009.2(RTEL1):c.1482-10C>T
|
|
|
NM_001283009.2(RTEL1):c.1482-11G>A
|
|
|
NM_001283009.2(RTEL1):c.1482-14C>T
|
|
|
NM_001283009.2(RTEL1):c.1482-1G>A
|
rs863225129
|
|
NM_001283009.2(RTEL1):c.1482-20C>G
|
|
|
NM_001283009.2(RTEL1):c.1482-20C>T
|
|
|
NM_001283009.2(RTEL1):c.1482-5C>G
|
|
|
NM_001283009.2(RTEL1):c.1482-6G>T
|
|
|
NM_001283009.2(RTEL1):c.1482-8_1482-7inv
|
|
|
NM_001283009.2(RTEL1):c.1482-9C>A
|
rs1601163130
|
|
NM_001283009.2(RTEL1):c.1482-9C>T
|
rs1601163130
|
|
NM_001283009.2(RTEL1):c.1497C>T (p.Cys499=)
|
rs2145420903
|
|
NM_001283009.2(RTEL1):c.1498C>T (p.Leu500=)
|
rs2145420911
|
|
NM_001283009.2(RTEL1):c.1503G>A (p.Glu501=)
|
|
|
NM_001283009.2(RTEL1):c.1505A>G (p.Asn502Ser)
|
rs2145420924
|
|
NM_001283009.2(RTEL1):c.1507C>G (p.Pro503Ala)
|
|
|
NM_001283009.2(RTEL1):c.1508C>T (p.Pro503Leu)
|
|
|
NM_001283009.2(RTEL1):c.1509A>C (p.Pro503=)
|
|
|
NM_001283009.2(RTEL1):c.1515C>A (p.Ile505=)
|
rs2145420942
|
|
NM_001283009.2(RTEL1):c.1519G>A (p.Asp507Asn)
|
|
|
NM_001283009.2(RTEL1):c.1520A>C (p.Asp507Ala)
|
|
|
NM_001283009.2(RTEL1):c.1520A>G (p.Asp507Gly)
|
|
|
NM_001283009.2(RTEL1):c.1522A>G (p.Lys508Glu)
|
rs2090635139
|
|
NM_001283009.2(RTEL1):c.1527C>G (p.His509Gln)
|
|
|
NM_001283009.2(RTEL1):c.153C>T (p.Cys51=)
|
|
|
NM_001283009.2(RTEL1):c.1541G>C (p.Gly514Ala)
|
|
|
NM_001283009.2(RTEL1):c.1542G>A (p.Gly514=)
|
rs116641785
|
|
NM_001283009.2(RTEL1):c.1542G>C (p.Gly514=)
|
|
|
NM_001283009.2(RTEL1):c.1543G>A (p.Val515Ile)
|
rs1246091092
|
|
NM_001283009.2(RTEL1):c.1546G>C (p.Val516Leu)
|
rs748223349
|
|
NM_001283009.2(RTEL1):c.1548C>A (p.Val516=)
|
|
|
NM_001283009.2(RTEL1):c.1549C>T (p.Pro517Ser)
|
|
|
NM_001283009.2(RTEL1):c.154C>T (p.Leu52=)
|
rs2146148631
|
|
NM_001283009.2(RTEL1):c.1551C>T (p.Pro517=)
|
rs1171672332
|
|
NM_001283009.2(RTEL1):c.1553G>C (p.Arg518Thr)
|
|
|
NM_001283009.2(RTEL1):c.1554A>G (p.Arg518=)
|
rs2145421067
|
|
NM_001283009.2(RTEL1):c.1557C>A (p.Gly519=)
|
|
|
NM_001283009.2(RTEL1):c.1558C>G (p.Pro520Ala)
|
rs763306707
|
|
NM_001283009.2(RTEL1):c.1560C>A (p.Pro520=)
|
rs766940725
|
|
NM_001283009.2(RTEL1):c.1563T>C (p.Asp521=)
|
|
|
NM_001283009.2(RTEL1):c.156G>C (p.Leu52=)
|
|
|
NM_001283009.2(RTEL1):c.1571A>G (p.Gln524Arg)
|
|
|
NM_001283009.2(RTEL1):c.1573T>C (p.Leu525=)
|
|
|
NM_001283009.2(RTEL1):c.1576A>G (p.Ser526Gly)
|
|
|
NM_001283009.2(RTEL1):c.1578C>T (p.Ser526=)
|
rs1436538013
|
|
NM_001283009.2(RTEL1):c.1582G>A (p.Ala528Thr)
|
|
|
NM_001283009.2(RTEL1):c.1583C>A (p.Ala528Glu)
|
rs760398738
|
|
NM_001283009.2(RTEL1):c.1583C>T (p.Ala528Val)
|
rs760398738
|
|
NM_001283009.2(RTEL1):c.1584G>A (p.Ala528=)
|
rs568600515
|
|
NM_001283009.2(RTEL1):c.1584G>T (p.Ala528=)
|
rs568600515
|
|
NM_001283009.2(RTEL1):c.1590C>T (p.Asp530=)
|
|
|
NM_001283009.2(RTEL1):c.1595+10T>C
|
|
|
NM_001283009.2(RTEL1):c.1595+11G>A
|
|
|
NM_001283009.2(RTEL1):c.1595+13C>G
|
|
|
NM_001283009.2(RTEL1):c.1595+14C>A
|
|
|
NM_001283009.2(RTEL1):c.1595+15C>T
|
|
|
NM_001283009.2(RTEL1):c.1595+1G>A
|
rs2145421181
|
|
NM_001283009.2(RTEL1):c.1595+8C>A
|
|
|
NM_001283009.2(RTEL1):c.1595+8C>T
|
|
|
NM_001283009.2(RTEL1):c.1595_1595+8del
|
|
|
NM_001283009.2(RTEL1):c.1596-10_1596-9del
|
|
|
NM_001283009.2(RTEL1):c.1596-12C>T
|
|
|
NM_001283009.2(RTEL1):c.1596-14C>G
|
|
|
NM_001283009.2(RTEL1):c.1596-1G>A
|
rs1555811386
|
|
NM_001283009.2(RTEL1):c.1596-1_1596delinsAA
|
rs1601163764
|
|
NM_001283009.2(RTEL1):c.1596-5T>A
|
|
|
NM_001283009.2(RTEL1):c.1596-7G>C
|
rs1417919064
|
|
NM_001283009.2(RTEL1):c.1596-8G>C
|
rs374702981
|
|
NM_001283009.2(RTEL1):c.1596-8G>T
|
|
|
NM_001283009.2(RTEL1):c.1601C>A (p.Ser534Tyr)
|
|
|
NM_001283009.2(RTEL1):c.1602C>G (p.Ser534=)
|
rs745339095
|
|
NM_001283009.2(RTEL1):c.1603G>T (p.Glu535Ter)
|
rs1367858373
|
|
NM_001283009.2(RTEL1):c.1606G>T (p.Glu536Ter)
|
rs2090639016
|
|
NM_001283009.2(RTEL1):c.1610G>A (p.Cys537Tyr)
|
|
|
NM_001283009.2(RTEL1):c.1611C>T (p.Cys537=)
|
|
|
NM_001283009.2(RTEL1):c.1614A>T (p.Leu538Phe)
|
|
|
NM_001283009.2(RTEL1):c.1616C>T (p.Ser539Phe)
|
|
|
NM_001283009.2(RTEL1):c.1618T>G (p.Ser540Ala)
|
rs863225130
|
|
NM_001283009.2(RTEL1):c.1620C>T (p.Ser540=)
|
|
|
NM_001283009.2(RTEL1):c.1621C>T (p.Leu541=)
|
|
|
NM_001283009.2(RTEL1):c.1623G>A (p.Leu541=)
|
|
|
NM_001283009.2(RTEL1):c.1623G>C (p.Leu541=)
|
|
|
NM_001283009.2(RTEL1):c.162C>T (p.Cys54=)
|
|
|
NM_001283009.2(RTEL1):c.1636+11T>A
|
|
|
NM_001283009.2(RTEL1):c.1636+11T>C
|
|
|
NM_001283009.2(RTEL1):c.1636+17C>T
|
|
|
NM_001283009.2(RTEL1):c.1636+18C>T
|
|
|
NM_001283009.2(RTEL1):c.1636+19C>A
|
|
|
NM_001283009.2(RTEL1):c.1636+5G>A
|
|
|
NM_001283009.2(RTEL1):c.1636+7G>T
|
|
|
NM_001283009.2(RTEL1):c.1636+8C>A
|
rs2145421713
|
|
NM_001283009.2(RTEL1):c.1636+8C>T
|
rs2145421713
|
|
NM_001283009.2(RTEL1):c.1636G>C (p.Gly546Arg)
|
|
|
NM_001283009.2(RTEL1):c.1637-12C>T
|
|
|
NM_001283009.2(RTEL1):c.1637-15C>A
|
|
|
NM_001283009.2(RTEL1):c.1637-16del
|
|
|
NM_001283009.2(RTEL1):c.1637-19C>G
|
|
|
NM_001283009.2(RTEL1):c.1637-19C>T
|
|
|
NM_001283009.2(RTEL1):c.1637-20C>A
|
|
|
NM_001283009.2(RTEL1):c.1637-20C>T
|
rs762602851
|
|
NM_001283009.2(RTEL1):c.1637-3C>T
|
|
|
NM_001283009.2(RTEL1):c.1637-3del
|
|
|
NM_001283009.2(RTEL1):c.1637-4C>A
|
|
|
NM_001283009.2(RTEL1):c.1637-4C>G
|
rs759414555
|
|
NM_001283009.2(RTEL1):c.1637-50A>C
|
rs2777941
|
|
NM_001283009.2(RTEL1):c.1637-7C>T
|
|
|
NM_001283009.2(RTEL1):c.1637-8A>C
|
|
|
NM_001283009.2(RTEL1):c.1637-8A>G
|
|
|
NM_001283009.2(RTEL1):c.1637G>A (p.Gly546Asp)
|
|
|
NM_001283009.2(RTEL1):c.163A>G (p.Thr55Ala)
|
|
|
NM_001283009.2(RTEL1):c.163A>T (p.Thr55Ser)
|
|
|
NM_001283009.2(RTEL1):c.1645G>A (p.Ala549Thr)
|
rs1408202470
|
|
NM_001283009.2(RTEL1):c.1646C>T (p.Ala549Val)
|
rs752494712
|
|
NM_001283009.2(RTEL1):c.1647C>A (p.Ala549=)
|
rs2145422344
|
|
NM_001283009.2(RTEL1):c.1649G>A (p.Arg550His)
|
rs765499822
|
|
NM_001283009.2(RTEL1):c.1650C>G (p.Arg550=)
|
rs147825631
|
|
NM_001283009.2(RTEL1):c.1653_1666delinsTGA (p.Val552fs)
|
|
|
NM_001283009.2(RTEL1):c.1658C>T (p.Pro553Leu)
|
|
|
NM_001283009.2(RTEL1):c.1660T>C (p.Tyr554His)
|
|
|
NM_001283009.2(RTEL1):c.1661A>C (p.Tyr554Ser)
|
|
|
NM_001283009.2(RTEL1):c.1665G>A (p.Gly555=)
|
|
|
NM_001283009.2(RTEL1):c.1670T>C (p.Leu557Pro)
|
rs1601164500
|
|
NM_001283009.2(RTEL1):c.1671G>A (p.Leu557=)
|
rs2145422444
|
|
NM_001283009.2(RTEL1):c.1672A>G (p.Ile558Val)
|
|
|
NM_001283009.2(RTEL1):c.1673T>A (p.Ile558Asn)
|
|
|
NM_001283009.2(RTEL1):c.1674C>T (p.Ile558=)
|
rs1601164518
|
|
NM_001283009.2(RTEL1):c.1675T>A (p.Phe559Ile)
|
rs747497376
|
|
NM_001283009.2(RTEL1):c.1675TTC[1] (p.Phe560del)
|
rs779176651
|
|
NM_001283009.2(RTEL1):c.1682_1686del (p.Pro561fs)
|
|
|
NM_001283009.2(RTEL1):c.1686C>G (p.Ser562=)
|
|
|
NM_001283009.2(RTEL1):c.168G>C (p.Thr56=)
|
|
|
NM_001283009.2(RTEL1):c.168G>T (p.Thr56=)
|
rs776722400
|
|
NM_001283009.2(RTEL1):c.1692T>C (p.Pro564=)
|
rs1601164560
|
|
NM_001283009.2(RTEL1):c.1695C>G (p.Val565=)
|
rs781633180
|
|
NM_001283009.2(RTEL1):c.1695C>T (p.Val565=)
|
|
|
NM_001283009.2(RTEL1):c.1699G>T (p.Glu567Ter)
|
|
|
NM_001283009.2(RTEL1):c.16C>T (p.Leu6=)
|
|
|
NM_001283009.2(RTEL1):c.1701G>A (p.Glu567=)
|
rs1480924155
|
|
NM_001283009.2(RTEL1):c.1702A>T (p.Lys568Ter)
|
|
|
NM_001283009.2(RTEL1):c.1710G>A (p.Leu570=)
|
rs2145422538
|
|
NM_001283009.2(RTEL1):c.1716C>T (p.Phe572=)
|
|
|
NM_001283009.2(RTEL1):c.1721G>A (p.Arg574Gln)
|
|
|
NM_001283009.2(RTEL1):c.1721G>C (p.Arg574Pro)
|
|
|
NM_001283009.2(RTEL1):c.1722+10C>A
|
|
|
NM_001283009.2(RTEL1):c.1722+10C>G
|
rs542270397
|
|
NM_001283009.2(RTEL1):c.1722+10C>T
|
|
|
NM_001283009.2(RTEL1):c.1722+10_1722+11delinsTT
|
|
|
NM_001283009.2(RTEL1):c.1722+12C>G
|
|
|
NM_001283009.2(RTEL1):c.1722+12_1722+13del
|
|
|
NM_001283009.2(RTEL1):c.1722+13T>C
|
|
|
NM_001283009.2(RTEL1):c.1722+14G>A
|
|
|
NM_001283009.2(RTEL1):c.1722+16G>T
|
|
|
NM_001283009.2(RTEL1):c.1722+20T>C
|
|
|
NM_001283009.2(RTEL1):c.1722+4C>T
|
|
|
NM_001283009.2(RTEL1):c.1722+5G>A
|
|
|
NM_001283009.2(RTEL1):c.1722+7C>T
|
rs1291638268
|
|
NM_001283009.2(RTEL1):c.1722+9C>A
|
|
|
NM_001283009.2(RTEL1):c.1722+9C>T
|
rs1344464320
|
|
NM_001283009.2(RTEL1):c.1723-10C>T
|
|
|
NM_001283009.2(RTEL1):c.1723-13C>G
|
|
|
NM_001283009.2(RTEL1):c.1723-15C>T
|
|
|
NM_001283009.2(RTEL1):c.1723-17G>C
|
rs1234690358
|
|
NM_001283009.2(RTEL1):c.1723-20C>T
|
|
|
NM_001283009.2(RTEL1):c.1723-5C>T
|
rs1601165217
|
|
NM_001283009.2(RTEL1):c.1723-6C>T
|
|
|
NM_001283009.2(RTEL1):c.1723-9C>G
|
rs2145423160
|
|
NM_001283009.2(RTEL1):c.1723-9C>T
|
rs2145423160
|
|
NM_001283009.2(RTEL1):c.1723-9del
|
|
|
NM_001283009.2(RTEL1):c.1725C>T (p.Ala575=)
|
rs375696298
|
|
NM_001283009.2(RTEL1):c.1726C>T (p.Arg576Cys)
|
|
|
NM_001283009.2(RTEL1):c.1728C>A (p.Arg576=)
|
rs754225573
|
|
NM_001283009.2(RTEL1):c.1728C>G (p.Arg576=)
|
|
|
NM_001283009.2(RTEL1):c.1736C>T (p.Ala579Val)
|
rs2145423231
|
|
NM_001283009.2(RTEL1):c.173C>G (p.Ala58Gly)
|
|
|
NM_001283009.2(RTEL1):c.1743G>A (p.Lys581=)
|
|
|
NM_001283009.2(RTEL1):c.1744A>G (p.Met582Val)
|
|
|
NM_001283009.2(RTEL1):c.1744A>T (p.Met582Leu)
|
|
|
NM_001283009.2(RTEL1):c.1750G>T (p.Ala584Ser)
|
|
|
NM_001283009.2(RTEL1):c.1753C>T (p.Leu585=)
|
rs1347654093
|
|
NM_001283009.2(RTEL1):c.1755G>A (p.Leu585=)
|
|
|
NM_001283009.2(RTEL1):c.1758G>A (p.Lys586=)
|
|
|
NM_001283009.2(RTEL1):c.1760C>T (p.Pro587Leu)
|
|
|
NM_001283009.2(RTEL1):c.1761G>C (p.Pro587=)
|
|
|
NM_001283009.2(RTEL1):c.1762C>T (p.Leu588=)
|
rs2145423314
|
|
NM_001283009.2(RTEL1):c.1763T>C (p.Leu588Pro)
|
|
|
NM_001283009.2(RTEL1):c.1764G>C (p.Leu588=)
|
|
|
NM_001283009.2(RTEL1):c.1767T>C (p.Phe589=)
|
rs747945947
|
|
NM_001283009.2(RTEL1):c.1770G>A (p.Val590=)
|
rs2090649363
|
|
NM_001283009.2(RTEL1):c.1773G>A (p.Glu591=)
|
rs398123051
|
|
NM_001283009.2(RTEL1):c.1776C>T (p.Pro592=)
|
rs771155864
|
|
NM_001283009.2(RTEL1):c.1778_1781dup (p.Ser594fs)
|
|
|
NM_001283009.2(RTEL1):c.1779G>A (p.Arg593=)
|
rs2145423376
|
|
NM_001283009.2(RTEL1):c.1788C>G (p.Gly596=)
|
rs1601165422
|
|
NM_001283009.2(RTEL1):c.178C>T (p.Arg60Ter)
|
|
|
NM_001283009.2(RTEL1):c.1796C>A (p.Ser599Tyr)
|
|
|
NM_001283009.2(RTEL1):c.1798G>A (p.Glu600Lys)
|
|
|
NM_001283009.2(RTEL1):c.1800+10T>A
|
|
|
NM_001283009.2(RTEL1):c.1800+12G>A
|
|
|
NM_001283009.2(RTEL1):c.1800+12G>C
|
|
|
NM_001283009.2(RTEL1):c.1800+13C>T
|
|
|
NM_001283009.2(RTEL1):c.1800+16G>T
|
|
|
NM_001283009.2(RTEL1):c.1800+17G>A
|
|
|
NM_001283009.2(RTEL1):c.1800+17G>T
|
|
|
NM_001283009.2(RTEL1):c.1800+18G>T
|
|
|
NM_001283009.2(RTEL1):c.1800+19C>G
|
|
|
NM_001283009.2(RTEL1):c.1800+4G>C
|
rs370973086
|
|
NM_001283009.2(RTEL1):c.1800+5G>A
|
|
|
NM_001283009.2(RTEL1):c.1800+8C>G
|
|
|
NM_001283009.2(RTEL1):c.1801-10T>C
|
|
|
NM_001283009.2(RTEL1):c.1801-12C>T
|
|
|
NM_001283009.2(RTEL1):c.1801-13A>G
|
|
|
NM_001283009.2(RTEL1):c.1801-14A>T
|
rs2145425572
|
|
NM_001283009.2(RTEL1):c.1801-16C>G
|
|
|
NM_001283009.2(RTEL1):c.1801-18C>T
|
|
|
NM_001283009.2(RTEL1):c.1801-20C>T
|
|
|
NM_001283009.2(RTEL1):c.1801-3C>T
|
|
|
NM_001283009.2(RTEL1):c.1801-7C>A
|
|
|
NM_001283009.2(RTEL1):c.1801-7C>T
|
rs2090663079
|
|
NM_001283009.2(RTEL1):c.1801-9T>A
|
|
|
NM_001283009.2(RTEL1):c.1801-9T>C
|
|
|
NM_001283009.2(RTEL1):c.1801-9del
|
|
|
NM_001283009.2(RTEL1):c.1802C>T (p.Thr601Ile)
|
|
|
NM_001283009.2(RTEL1):c.1805T>C (p.Ile602Thr)
|
|
|
NM_001283009.2(RTEL1):c.1812T>G (p.Ala604=)
|
rs2145425650
|
|
NM_001283009.2(RTEL1):c.1815C>T (p.Tyr605=)
|
rs2145425659
|
|
NM_001283009.2(RTEL1):c.1817A>G (p.Tyr606Cys)
|
|
|
NM_001283009.2(RTEL1):c.1818T>C (p.Tyr606=)
|
|
|
NM_001283009.2(RTEL1):c.1820C>G (p.Ala607Gly)
|
|
|
NM_001283009.2(RTEL1):c.1821A>G (p.Ala607=)
|
rs2145425699
|
|
NM_001283009.2(RTEL1):c.1831G>A (p.Ala611Thr)
|
|
|
NM_001283009.2(RTEL1):c.1835C>T (p.Pro612Leu)
|
|
|
NM_001283009.2(RTEL1):c.1836T>G (p.Pro612=)
|
rs2145425776
|
|
NM_001283009.2(RTEL1):c.1839G>C (p.Gly613=)
|
|
|
NM_001283009.2(RTEL1):c.1843A>G (p.Thr615Ala)
|
|
|
NM_001283009.2(RTEL1):c.1846G>A (p.Gly616Ser)
|
|
|
NM_001283009.2(RTEL1):c.1854C>T (p.Thr618=)
|
rs763476953
|
|
NM_001283009.2(RTEL1):c.1857C>T (p.Phe619=)
|
|
|
NM_001283009.2(RTEL1):c.1858C>G (p.Leu620Val)
|
rs368411912
|
|
NM_001283009.2(RTEL1):c.1858C>T (p.Leu620=)
|
rs368411912
|
|
NM_001283009.2(RTEL1):c.1858del (p.Leu620fs)
|
|
|
NM_001283009.2(RTEL1):c.1863G>T (p.Ala621=)
|
|
|
NM_001283009.2(RTEL1):c.1866C>G (p.Val622=)
|
rs2090664684
|
|
NM_001283009.2(RTEL1):c.1868G>A (p.Cys623Tyr)
|
|
|
NM_001283009.2(RTEL1):c.1870C>T (p.Arg624Trp)
|
|
|
NM_001283009.2(RTEL1):c.1871G>T (p.Arg624Leu)
|
|
|
NM_001283009.2(RTEL1):c.1872G>C (p.Arg624=)
|
rs2145425931
|
|
NM_001283009.2(RTEL1):c.1872G>T (p.Arg624=)
|
rs2145425931
|
|
NM_001283009.2(RTEL1):c.1874G>A (p.Gly625Asp)
|
rs2145425936
|
|
NM_001283009.2(RTEL1):c.1876A>G (p.Lys626Glu)
|
|
|
NM_001283009.2(RTEL1):c.1878+11_1878+20del
|
|
|
NM_001283009.2(RTEL1):c.1878+12A>G
|
|
|
NM_001283009.2(RTEL1):c.1878+12del
|
|
|
NM_001283009.2(RTEL1):c.1878+15G>T
|
|
|
NM_001283009.2(RTEL1):c.1878+16C>T
|
|
|
NM_001283009.2(RTEL1):c.1878+17C>A
|
|
|
NM_001283009.2(RTEL1):c.1878+17C>T
|
|
|
NM_001283009.2(RTEL1):c.1878+20C>G
|
|
|
NM_001283009.2(RTEL1):c.1878+20C>T
|
|
|
NM_001283009.2(RTEL1):c.1878+7T>A
|
rs2145425963
|
|
NM_001283009.2(RTEL1):c.1878+7T>C
|
|
|
NM_001283009.2(RTEL1):c.1878+8C>T
|
|
|
NM_001283009.2(RTEL1):c.1879-11G>A
|
|
|
NM_001283009.2(RTEL1):c.1879-13G>A
|
|
|
NM_001283009.2(RTEL1):c.1879-14_1879-4dup
|
|
|
NM_001283009.2(RTEL1):c.1879-16C>G
|
rs373555734
|
|
NM_001283009.2(RTEL1):c.1879-18C>T
|
|
|
NM_001283009.2(RTEL1):c.1879-19T>A
|
|
|
NM_001283009.2(RTEL1):c.1879-4del
|
|
|
NM_001283009.2(RTEL1):c.1879-5C>T
|
|
|
NM_001283009.2(RTEL1):c.1879-7C>A
|
|
|
NM_001283009.2(RTEL1):c.187C>T (p.Leu63Phe)
|
|
|
NM_001283009.2(RTEL1):c.1881C>T (p.Ala627=)
|
rs2090674624
|
|
NM_001283009.2(RTEL1):c.1884C>T (p.Ser628=)
|
|
|
NM_001283009.2(RTEL1):c.1885G>A (p.Glu629Lys)
|
|
|
NM_001283009.2(RTEL1):c.1886A>G (p.Glu629Gly)
|
|
|
NM_001283009.2(RTEL1):c.188_190del (p.Leu63del)
|
|
|
NM_001283009.2(RTEL1):c.1890G>T (p.Gly630=)
|
|
|
NM_001283009.2(RTEL1):c.1890dup (p.Leu631fs)
|
rs2145427564
|
|
NM_001283009.2(RTEL1):c.1893G>A (p.Leu631=)
|
rs752909114
|
|
NM_001283009.2(RTEL1):c.1899C>T (p.Phe633=)
|
|
|
NM_001283009.2(RTEL1):c.189C>G (p.Leu63=)
|
|
|
NM_001283009.2(RTEL1):c.1908G>C (p.Thr636=)
|
|
|
NM_001283009.2(RTEL1):c.1909A>T (p.Asn637Tyr)
|
|
|
NM_001283009.2(RTEL1):c.190C>T (p.Arg64Ter)
|
rs368311594
|
|
NM_001283009.2(RTEL1):c.1910A>G (p.Asn637Ser)
|
|
|
NM_001283009.2(RTEL1):c.1910del (p.Asn637fs)
|
|
|
NM_001283009.2(RTEL1):c.1911T>C (p.Asn637=)
|
rs2145427641
|
|
NM_001283009.2(RTEL1):c.1914C>T (p.Gly638=)
|
|
|
NM_001283009.2(RTEL1):c.1915C>T (p.Arg639Cys)
|
|
|
NM_001283009.2(RTEL1):c.1924A>C (p.Ile642Leu)
|
|
|
NM_001283009.2(RTEL1):c.1926T>C (p.Ile642=)
|
|
|
NM_001283009.2(RTEL1):c.1929C>T (p.Val643=)
|
rs1430582760
|
|
NM_001283009.2(RTEL1):c.1932G>A (p.Thr644=)
|
rs374107857
|
|
NM_001283009.2(RTEL1):c.1932G>C (p.Thr644=)
|
|
|
NM_001283009.2(RTEL1):c.1938C>T (p.Leu646=)
|
|
|
NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu)
|
rs1177091623
|
|
NM_001283009.2(RTEL1):c.1941G>T (p.Pro647=)
|
|
|
NM_001283009.2(RTEL1):c.1944C>T (p.Tyr648=)
|
|
|
NM_001283009.2(RTEL1):c.1947C>A (p.Pro649=)
|
|
|
NM_001283009.2(RTEL1):c.1947C>G (p.Pro649=)
|
|
|
NM_001283009.2(RTEL1):c.1947C>T (p.Pro649=)
|
rs746604406
|
|
NM_001283009.2(RTEL1):c.1948C>A (p.Pro650Thr)
|
|
|
NM_001283009.2(RTEL1):c.194A>T (p.Asp65Val)
|
|
|
NM_001283009.2(RTEL1):c.1950A>C (p.Pro650=)
|
rs761454817
|
|
NM_001283009.2(RTEL1):c.1952G>A (p.Arg651His)
|
rs773159241
|
|
NM_001283009.2(RTEL1):c.1954A>C (p.Met652Leu)
|
rs766133842
|
|
NM_001283009.2(RTEL1):c.1955T>A (p.Met652Lys)
|
|
|
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr)
|
rs148080505
|
|
NM_001283009.2(RTEL1):c.1957G>C (p.Asp653His)
|
|
|
NM_001283009.2(RTEL1):c.1959C>T (p.Asp653=)
|
|
|
NM_001283009.2(RTEL1):c.1961C>G (p.Pro654Arg)
|
|
|
NM_001283009.2(RTEL1):c.1962C>T (p.Pro654=)
|
|
|
NM_001283009.2(RTEL1):c.1963C>A (p.Arg655=)
|
|
|
NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs)
|
rs1555811742
|
|
NM_001283009.2(RTEL1):c.1964G>A (p.Arg655Gln)
|
rs753884575
|
|
NM_001283009.2(RTEL1):c.196G>A (p.Gly66Ser)
|
rs755641587
|
|
NM_001283009.2(RTEL1):c.1974C>T (p.Leu658=)
|
|
|
NM_001283009.2(RTEL1):c.197G>T (p.Gly66Val)
|
rs777459653
|
|
NM_001283009.2(RTEL1):c.1982A>G (p.Gln661Arg)
|
rs758832096
|
|
NM_001283009.2(RTEL1):c.1987C>T (p.Leu663=)
|
|
|
NM_001283009.2(RTEL1):c.1992T>A (p.Asp664Glu)
|
|
|
NM_001283009.2(RTEL1):c.1993G>A (p.Glu665Lys)
|
|
|
NM_001283009.2(RTEL1):c.1998G>T (p.Met666Ile)
|
|
|
NM_001283009.2(RTEL1):c.2002G>A (p.Gly668Ser)
|
|
|
NM_001283009.2(RTEL1):c.2003G>A (p.Gly668Asp)
|
|
|
NM_001283009.2(RTEL1):c.2004C>A (p.Gly668=)
|
|
|
NM_001283009.2(RTEL1):c.2004C>T (p.Gly668=)
|
|
|
NM_001283009.2(RTEL1):c.2005C>T (p.Gln669Ter)
|
rs1555811762
|
|
NM_001283009.2(RTEL1):c.2006A>G (p.Gln669Arg)
|
|
|
NM_001283009.2(RTEL1):c.2007G>A (p.Gln669=)
|
rs2145428063
|
|
NM_001283009.2(RTEL1):c.2010T>C (p.Gly670=)
|
|
|
NM_001283009.2(RTEL1):c.2010T>G (p.Gly670=)
|
|
|
NM_001283009.2(RTEL1):c.2011G>A (p.Gly671Arg)
|
|
|
NM_001283009.2(RTEL1):c.2017G>A (p.Gly673Arg)
|
|
|
NM_001283009.2(RTEL1):c.2019G>C (p.Gly673=)
|
rs2145428129
|
|
NM_001283009.2(RTEL1):c.2021_2025+27dup
|
|
|
NM_001283009.2(RTEL1):c.2022C>A (p.Gly674=)
|
|
|
NM_001283009.2(RTEL1):c.2022C>T (p.Gly674=)
|
|
|
NM_001283009.2(RTEL1):c.2023del (p.Gln675fs)
|
|
|
NM_001283009.2(RTEL1):c.2025+10A>C
|
rs770832240
|
|
NM_001283009.2(RTEL1):c.2025+11G>A
|
|
|
NM_001283009.2(RTEL1):c.2025+12C>T
|
|
|
NM_001283009.2(RTEL1):c.2025+13A>G
|
|
|
NM_001283009.2(RTEL1):c.2025+15_2025+16dup
|
|
|
NM_001283009.2(RTEL1):c.2025+5G>A
|
rs762945317
|
|
NM_001283009.2(RTEL1):c.2025+7T>C
|
|
|
NM_001283009.2(RTEL1):c.2025+9C>G
|
rs1023672262
|
|
NM_001283009.2(RTEL1):c.2026-11T>C
|
|
|
NM_001283009.2(RTEL1):c.2026-12C>G
|
|
|
NM_001283009.2(RTEL1):c.2026-14G>A
|
rs753171579
|
|
NM_001283009.2(RTEL1):c.2026-14G>C
|
|
|
NM_001283009.2(RTEL1):c.2026-15C>A
|
|
|
NM_001283009.2(RTEL1):c.2026-1G>T
|
|
|
NM_001283009.2(RTEL1):c.2026-20C>G
|
|
|
NM_001283009.2(RTEL1):c.2026-2A>G
|
|
|
NM_001283009.2(RTEL1):c.2026-8C>T
|
|
|
NM_001283009.2(RTEL1):c.2026-9G>A
|
rs1451108755
|
|
NM_001283009.2(RTEL1):c.2027T>C (p.Phe676Ser)
|
|
|
NM_001283009.2(RTEL1):c.2028C>T (p.Phe676=)
|
|
|
NM_001283009.2(RTEL1):c.2031C>T (p.Leu677=)
|
|
|
NM_001283009.2(RTEL1):c.2034T>C (p.Ser678=)
|
|
|
NM_001283009.2(RTEL1):c.2035G>A (p.Gly679Arg)
|
rs1229240096
|
|
NM_001283009.2(RTEL1):c.2038C>T (p.Gln680Ter)
|
rs2090682958
|
|
NM_001283009.2(RTEL1):c.2039A>T (p.Gln680Leu)
|
|
|
NM_001283009.2(RTEL1):c.2040G>T (p.Gln680His)
|
|
|
NM_001283009.2(RTEL1):c.2045G>A (p.Trp682Ter)
|
|
|
NM_001283009.2(RTEL1):c.2046G>A (p.Trp682Ter)
|
|
|
NM_001283009.2(RTEL1):c.2049C>T (p.Tyr683=)
|
rs745736556
|
|
NM_001283009.2(RTEL1):c.2050C>T (p.Arg684Trp)
|
|
|
NM_001283009.2(RTEL1):c.2052G>C (p.Arg684=)
|
rs2145428905
|
|
NM_001283009.2(RTEL1):c.205G>A (p.Ala69Thr)
|
rs768524684
|
|
NM_001283009.2(RTEL1):c.2060C>T (p.Ala687Val)
|
|
|
NM_001283009.2(RTEL1):c.2061G>C (p.Ala687=)
|
|
|
NM_001283009.2(RTEL1):c.2070T>C (p.Ala690=)
|
rs2145428965
|
|
NM_001283009.2(RTEL1):c.2073G>A (p.Val691=)
|
|
|
NM_001283009.2(RTEL1):c.207C>T (p.Ala69=)
|
rs957858006
|
|
NM_001283009.2(RTEL1):c.2080del (p.Ala694fs)
|
|
|
NM_001283009.2(RTEL1):c.2082C>T (p.Ala694=)
|
rs2145428995
|
|
NM_001283009.2(RTEL1):c.2083A>G (p.Ile695Val)
|
rs2090684109
|
|
NM_001283009.2(RTEL1):c.2085C>A (p.Ile695=)
|
|
|
NM_001283009.2(RTEL1):c.2087G>A (p.Gly696Glu)
|
|
|
NM_001283009.2(RTEL1):c.2088G>A (p.Gly696=)
|
rs2145429023
|
|
NM_001283009.2(RTEL1):c.2088G>T (p.Gly696=)
|
|
|
NM_001283009.2(RTEL1):c.208C>G (p.Arg70Gly)
|
|
|
NM_001283009.2(RTEL1):c.2091A>C (p.Arg697=)
|
rs2145429055
|
|
NM_001283009.2(RTEL1):c.2098del (p.Arg700fs)
|
rs2090684427
|
|
NM_001283009.2(RTEL1):c.2099G>A (p.Arg700Gln)
|
|
|
NM_001283009.2(RTEL1):c.209G>A (p.Arg70His)
|
rs61736616
|
|
NM_001283009.2(RTEL1):c.209G>T (p.Arg70Leu)
|
|
|
NM_001283009.2(RTEL1):c.2100G>A (p.Arg700=)
|
rs1363635362
|
|
NM_001283009.2(RTEL1):c.2103C>T (p.His701=)
|
|
|
NM_001283009.2(RTEL1):c.2104C>T (p.Arg702Cys)
|
|
|
NM_001283009.2(RTEL1):c.2110G>A (p.Asp704Asn)
|
|
|
NM_001283009.2(RTEL1):c.2110_2112delinsAAT (p.Asp704Asn)
|
|
|
NM_001283009.2(RTEL1):c.2121T>C (p.Ala707=)
|
|
|
NM_001283009.2(RTEL1):c.2124C>T (p.Val708=)
|
rs1345711959
|
|
NM_001283009.2(RTEL1):c.2130C>T (p.Leu710=)
|
rs2145429198
|
|
NM_001283009.2(RTEL1):c.2137C>G (p.His713Asp)
|
rs2145429206
|
|
NM_001283009.2(RTEL1):c.2139C>T (p.His713=)
|
rs2145429218
|
|
NM_001283009.2(RTEL1):c.2141+10G>A
|
|
|
NM_001283009.2(RTEL1):c.2141+10G>C
|
rs2145429313
|
|
NM_001283009.2(RTEL1):c.2141+13C>A
|
|
|
NM_001283009.2(RTEL1):c.2141+13C>T
|
|
|
NM_001283009.2(RTEL1):c.2141+14G>C
|
|
|
NM_001283009.2(RTEL1):c.2141+14_2141+48del
|
|
|
NM_001283009.2(RTEL1):c.2141+15G>A
|
|
|
NM_001283009.2(RTEL1):c.2141+19C>A
|
|
|
NM_001283009.2(RTEL1):c.2141+5G>A
|
rs398123050
|
|
NM_001283009.2(RTEL1):c.2141+7G>A
|
|
|
NM_001283009.2(RTEL1):c.2141+8C>T
|
|
|
NM_001283009.2(RTEL1):c.2141+9A>G
|
rs2145429302
|
|
NM_001283009.2(RTEL1):c.2142-10C>A
|
|
|
NM_001283009.2(RTEL1):c.2142-10C>T
|
|
|
NM_001283009.2(RTEL1):c.2142-10del
|
|
|
NM_001283009.2(RTEL1):c.2142-12G>A
|
|
|
NM_001283009.2(RTEL1):c.2142-17C>A
|
|
|
NM_001283009.2(RTEL1):c.2142-17C>T
|
|
|
NM_001283009.2(RTEL1):c.2142-18G>T
|
|
|
NM_001283009.2(RTEL1):c.2142-19G>A
|
|
|
NM_001283009.2(RTEL1):c.2142-1G>T
|
|
|
NM_001283009.2(RTEL1):c.2142-3C>T
|
|
|
NM_001283009.2(RTEL1):c.2142-3del
|
rs755965232
|
|
NM_001283009.2(RTEL1):c.2142-4C>A
|
rs762201678
|
|
NM_001283009.2(RTEL1):c.2142-4_2142-3dup
|
|
|
NM_001283009.2(RTEL1):c.2142-7C>T
|
rs879582201
|
|
NM_001283009.2(RTEL1):c.2142-8C>A
|
rs769261916
|
|
NM_001283009.2(RTEL1):c.2142-8C>T
|
rs769261916
|
|
NM_001283009.2(RTEL1):c.2142G>A (p.Arg714=)
|
rs2145430556
|
|
NM_001283009.2(RTEL1):c.2142G>C (p.Arg714Ser)
|
|
|
NM_001283009.2(RTEL1):c.2148C>G (p.Ala716=)
|
rs2090696568
|
|
NM_001283009.2(RTEL1):c.2148C>T (p.Ala716=)
|
rs2090696568
|
|
NM_001283009.2(RTEL1):c.2152G>C (p.Ala718Pro)
|
|
|
NM_001283009.2(RTEL1):c.2159C>T (p.Ala720Val)
|
rs2145430644
|
|
NM_001283009.2(RTEL1):c.215T>C (p.Ile72Thr)
|
|
|
NM_001283009.2(RTEL1):c.2162G>A (p.Arg721Lys)
|
|
|
NM_001283009.2(RTEL1):c.2164G>A (p.Ala722Thr)
|
|
|
NM_001283009.2(RTEL1):c.2164G>T (p.Ala722Ser)
|
rs2090697243
|
|
NM_001283009.2(RTEL1):c.2169A>C (p.Gln723His)
|
|
|
NM_001283009.2(RTEL1):c.2169A>G (p.Gln723=)
|
rs1224602711
|
|
NM_001283009.2(RTEL1):c.2175C>T (p.Pro725=)
|
rs2145430702
|
|
NM_001283009.2(RTEL1):c.2178C>G (p.Ser726=)
|
|
|
NM_001283009.2(RTEL1):c.217G>A (p.Ala73Thr)
|
|
|
NM_001283009.2(RTEL1):c.2182G>A (p.Val728Met)
|
|
|
NM_001283009.2(RTEL1):c.2185C>T (p.Arg729Cys)
|
rs1555811919
|
|
NM_001283009.2(RTEL1):c.2186G>A (p.Arg729His)
|
|
|
NM_001283009.2(RTEL1):c.2190C>G (p.Pro730=)
|
rs144933599
|
|
NM_001283009.2(RTEL1):c.2194G>A (p.Val732Ile)
|
rs142039934
|
|
NM_001283009.2(RTEL1):c.2197_2198del (p.Arg733fs)
|
|
|
NM_001283009.2(RTEL1):c.21T>C (p.Asn7=)
|
|
|
NM_001283009.2(RTEL1):c.2200del (p.Val734fs)
|
|
|
NM_001283009.2(RTEL1):c.2206_2208del (p.Asp736del)
|
|
|
NM_001283009.2(RTEL1):c.2208C>T (p.Asp736=)
|
rs1466033531
|
|
NM_001283009.2(RTEL1):c.2210A>G (p.Asn737Ser)
|
|
|
NM_001283009.2(RTEL1):c.2211C>G (p.Asn737Lys)
|
|
|
NM_001283009.2(RTEL1):c.2211C>T (p.Asn737=)
|
rs759047464
|
|
NM_001283009.2(RTEL1):c.2214T>C (p.Phe738=)
|
|
|
NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del)
|
rs863225053
|
|
NM_001283009.2(RTEL1):c.2220T>C (p.His740=)
|
|
|
NM_001283009.2(RTEL1):c.2222_2223delinsGT (p.Val741Gly)
|
|
|
NM_001283009.2(RTEL1):c.2223del (p.Ile742fs)
|
rs2090699166
|
|
NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter)
|
rs2145430878
|
|
NM_001283009.2(RTEL1):c.2229A>G (p.Arg743=)
|
rs1601170877
|
|
NM_001283009.2(RTEL1):c.222G>A (p.Glu74=)
|
rs2146148909
|
|
NM_001283009.2(RTEL1):c.2233G>A (p.Val745Met)
|
rs398123049
|
|
NM_001283009.2(RTEL1):c.2233G>C (p.Val745Leu)
|
|
|
NM_001283009.2(RTEL1):c.2235G>A (p.Val745=)
|
|
|
NM_001283009.2(RTEL1):c.2237C>T (p.Ala746Val)
|
|
|
NM_001283009.2(RTEL1):c.2239C>T (p.Gln747Ter)
|
rs2145430921
|
|
NM_001283009.2(RTEL1):c.2247C>T (p.Phe749=)
|
|
|
NM_001283009.2(RTEL1):c.2248C>T (p.Arg750Cys)
|
rs2090699912
|
|
NM_001283009.2(RTEL1):c.2249G>A (p.Arg750His)
|
rs758667681
|
|
NM_001283009.2(RTEL1):c.2249G>T (p.Arg750Leu)
|
rs758667681
|
|
NM_001283009.2(RTEL1):c.2253T>C (p.Val751=)
|
|
|
NM_001283009.2(RTEL1):c.2256C>A (p.Ala752=)
|
|
|
NM_001283009.2(RTEL1):c.2257G>A (p.Glu753Lys)
|
|
|
NM_001283009.2(RTEL1):c.2261G>T (p.Arg754Leu)
|
rs141423196
|
|
NM_001283009.2(RTEL1):c.2265+10T>A
|
rs2090701320
|
|
NM_001283009.2(RTEL1):c.2265+13C>T
|
|
|
NM_001283009.2(RTEL1):c.2265+13_2265+17del
|
|
|
NM_001283009.2(RTEL1):c.2265+14C>T
|
|
|
NM_001283009.2(RTEL1):c.2265+15A>G
|
|
|
NM_001283009.2(RTEL1):c.2265+16G>T
|
|
|
NM_001283009.2(RTEL1):c.2265+17G>C
|
|
|
NM_001283009.2(RTEL1):c.2265+19del
|
|
|
NM_001283009.2(RTEL1):c.2265+1G>T
|
rs2145431062
|
|
NM_001283009.2(RTEL1):c.2265+20G>A
|
|
|
NM_001283009.2(RTEL1):c.2265+7dup
|
rs1568712284
|
|
NM_001283009.2(RTEL1):c.2265T>G (p.Thr755=)
|
|
|
NM_001283009.2(RTEL1):c.2266-10G>T
|
rs1380515012
|
|
NM_001283009.2(RTEL1):c.2266-12A>G
|
|
|
NM_001283009.2(RTEL1):c.2266-13C>T
|
|
|
NM_001283009.2(RTEL1):c.2266-13dup
|
rs546123796
|
|
NM_001283009.2(RTEL1):c.2266-14C>T
|
|
|
NM_001283009.2(RTEL1):c.2266-17C>A
|
|
|
NM_001283009.2(RTEL1):c.2266-17C>T
|
|
|
NM_001283009.2(RTEL1):c.2266-19C>T
|
|
|
NM_001283009.2(RTEL1):c.2266-20C>T
|
rs1601171294
|
|
NM_001283009.2(RTEL1):c.2266-2A>G
|
|
|
NM_001283009.2(RTEL1):c.2266-4G>A
|
|
|
NM_001283009.2(RTEL1):c.2266-6C>T
|
|
|
NM_001283009.2(RTEL1):c.2266-9G>A
|
rs917815049
|
|
NM_001283009.2(RTEL1):c.2268G>A (p.Met756Ile)
|
|
|
NM_001283009.2(RTEL1):c.2269C>A (p.Pro757Thr)
|
rs1348818075
|
|
NM_001283009.2(RTEL1):c.2270del (p.Pro757fs)
|
rs2145431569
|
|
NM_001283009.2(RTEL1):c.2274G>T (p.Ala758=)
|
|
|
NM_001283009.2(RTEL1):c.2274_2275delinsAG (p.Pro759Ala)
|
rs1601171438
|
|
NM_001283009.2(RTEL1):c.2276C>G (p.Pro759Arg)
|
|
|
NM_001283009.2(RTEL1):c.2276C>T (p.Pro759Leu)
|
|
|
NM_001283009.2(RTEL1):c.2278G>C (p.Ala760Pro)
|
|
|
NM_001283009.2(RTEL1):c.2280C>A (p.Ala760=)
|
|
|
NM_001283009.2(RTEL1):c.2281C>T (p.Pro761Ser)
|
|
|
NM_001283009.2(RTEL1):c.2283C>G (p.Pro761=)
|
|
|
NM_001283009.2(RTEL1):c.2283C>T (p.Pro761=)
|
rs1447604348
|
|
NM_001283009.2(RTEL1):c.2284C>G (p.Arg762Gly)
|
rs750251447
|
|
NM_001283009.2(RTEL1):c.2284dup (p.Arg762fs)
|
|
|
NM_001283009.2(RTEL1):c.2285G>A (p.Arg762Gln)
|
|
|
NM_001283009.2(RTEL1):c.2286G>C (p.Arg762=)
|
|
|
NM_001283009.2(RTEL1):c.2287dup (p.Ala763fs)
|
|
|
NM_001283009.2(RTEL1):c.228G>A (p.Ala76=)
|
rs116624637
|
|
NM_001283009.2(RTEL1):c.228G>T (p.Ala76=)
|
|
|
NM_001283009.2(RTEL1):c.2291C>A (p.Thr764Lys)
|
|
|
NM_001283009.2(RTEL1):c.2291C>T (p.Thr764Ile)
|
rs767774517
|
|
NM_001283009.2(RTEL1):c.2292A>G (p.Thr764=)
|
rs2090705028
|
|
NM_001283009.2(RTEL1):c.2295A>G (p.Ala765=)
|
|
|
NM_001283009.2(RTEL1):c.2295del (p.Ser767fs)
|
|
|
NM_001283009.2(RTEL1):c.2297C>T (p.Pro766Leu)
|
|
|
NM_001283009.2(RTEL1):c.2298C>G (p.Pro766=)
|
|
|
NM_001283009.2(RTEL1):c.2304G>A (p.Val768=)
|
|
|
NM_001283009.2(RTEL1):c.2305C>T (p.Arg769Cys)
|
|
|
NM_001283009.2(RTEL1):c.2307T>C (p.Arg769=)
|
rs2145431775
|
|
NM_001283009.2(RTEL1):c.2309_2311del (p.Gly770del)
|
rs1555812033
|
|
NM_001283009.2(RTEL1):c.2310AGA[1] (p.Glu771del)
|
rs558133631
|
|
NM_001283009.2(RTEL1):c.2322C>T (p.Val774=)
|
rs2145431842
|
|
NM_001283009.2(RTEL1):c.2323A>G (p.Ser775Gly)
|
|
|
NM_001283009.2(RTEL1):c.2324G>T (p.Ser775Ile)
|
|
|
NM_001283009.2(RTEL1):c.2326G>A (p.Glu776Lys)
|
|
|
NM_001283009.2(RTEL1):c.2326G>C (p.Glu776Gln)
|
rs746677388
|
|
NM_001283009.2(RTEL1):c.2327A>G (p.Glu776Gly)
|
|
|
NM_001283009.2(RTEL1):c.2333A>G (p.Lys778Arg)
|
|
|
NM_001283009.2(RTEL1):c.2334G>C (p.Lys778Asn)
|
|
|
NM_001283009.2(RTEL1):c.2337G>A (p.Ser779=)
|
rs769675904
|
|
NM_001283009.2(RTEL1):c.2337G>C (p.Ser779=)
|
rs769675904
|
|
NM_001283009.2(RTEL1):c.2339C>T (p.Pro780Leu)
|
|
|
NM_001283009.2(RTEL1):c.2343C>A (p.Gly781=)
|
rs766185797
|
|
NM_001283009.2(RTEL1):c.2345C>T (p.Pro782Leu)
|
rs764157833
|
|
NM_001283009.2(RTEL1):c.2346C>T (p.Pro782=)
|
rs753928264
|
|
NM_001283009.2(RTEL1):c.2348TCT[1] (p.Phe784del)
|
rs771771098
|
|
NM_001283009.2(RTEL1):c.2353_2355del (p.Ser785del)
|
|
|
NM_001283009.2(RTEL1):c.2354C>G (p.Ser785Cys)
|
|
|
NM_001283009.2(RTEL1):c.2355C>T (p.Ser785=)
|
|
|
NM_001283009.2(RTEL1):c.2361G>A (p.Arg787=)
|
|
|
NM_001283009.2(RTEL1):c.2364A>G (p.Lys788=)
|
rs2145432070
|
|
NM_001283009.2(RTEL1):c.2366C>G (p.Ala789Gly)
|
rs2090707111
|
|
NM_001283009.2(RTEL1):c.2368A>G (p.Lys790Glu)
|
|
|
NM_001283009.2(RTEL1):c.2369A>G (p.Lys790Arg)
|
|
|
NM_001283009.2(RTEL1):c.2370G>A (p.Lys790=)
|
rs553827008
|
|
NM_001283009.2(RTEL1):c.2371A>T (p.Ser791Cys)
|
|
|
NM_001283009.2(RTEL1):c.2373T>C (p.Ser791=)
|
rs2145432121
|
|
NM_001283009.2(RTEL1):c.2376G>A (p.Leu792=)
|
rs2090707327
|
|
NM_001283009.2(RTEL1):c.2377G>A (p.Asp793Asn)
|
|
|
NM_001283009.2(RTEL1):c.2377G>T (p.Asp793Tyr)
|
|
|
NM_001283009.2(RTEL1):c.2379C>A (p.Asp793Glu)
|
|
|
NM_001283009.2(RTEL1):c.2380C>T (p.Leu794=)
|
|
|
NM_001283009.2(RTEL1):c.2382G>A (p.Leu794=)
|
|
|
NM_001283009.2(RTEL1):c.2382G>C (p.Leu794=)
|
|
|
NM_001283009.2(RTEL1):c.2384A>G (p.His795Arg)
|
rs2145432169
|
|
NM_001283009.2(RTEL1):c.2386G>C (p.Val796Leu)
|
|
|
NM_001283009.2(RTEL1):c.2387T>A (p.Val796Asp)
|
|
|
NM_001283009.2(RTEL1):c.2387del (p.Val796fs)
|
rs2145432198
|
|
NM_001283009.2(RTEL1):c.2388C>T (p.Val796=)
|
|
|
NM_001283009.2(RTEL1):c.2391C>T (p.Pro797=)
|
|
|
NM_001283009.2(RTEL1):c.2393G>C (p.Ser798Thr)
|
|
|
NM_001283009.2(RTEL1):c.2393G>T (p.Ser798Ile)
|
|
|
NM_001283009.2(RTEL1):c.2394C>T (p.Ser798=)
|
rs2145432222
|
|
NM_001283009.2(RTEL1):c.2395C>G (p.Leu799Val)
|
rs1601171872
|
|
NM_001283009.2(RTEL1):c.2395C>T (p.Leu799=)
|
rs1601171872
|
|
NM_001283009.2(RTEL1):c.2397G>A (p.Leu799=)
|
|
|
NM_001283009.2(RTEL1):c.2401C>G (p.Gln801Glu)
|
|
|
NM_001283009.2(RTEL1):c.2401C>T (p.Gln801Ter)
|
|
|
NM_001283009.2(RTEL1):c.2405G>A (p.Arg802Lys)
|
|
|
NM_001283009.2(RTEL1):c.2410T>C (p.Ser804Pro)
|
rs2145432315
|
|
NM_001283009.2(RTEL1):c.2413+12C>T
|
|
|
NM_001283009.2(RTEL1):c.2413+18T>C
|
|
|
NM_001283009.2(RTEL1):c.2413+1G>A
|
|
|
NM_001283009.2(RTEL1):c.2413+1G>C
|
rs776744306
|
|
NM_001283009.2(RTEL1):c.2413+1G>T
|
|
|
NM_001283009.2(RTEL1):c.2413+22_2413+35dup
|
|
|
NM_001283009.2(RTEL1):c.2413+4C>G
|
|
|
NM_001283009.2(RTEL1):c.2413+5G>C
|
rs750836127
|
|
NM_001283009.2(RTEL1):c.2413+7A>C
|
|
|
NM_001283009.2(RTEL1):c.2413+9G>C
|
|
|
NM_001283009.2(RTEL1):c.2414-10G>T
|
|
|
NM_001283009.2(RTEL1):c.2414-18A>G
|
|
|
NM_001283009.2(RTEL1):c.2414-4G>T
|
rs2145434270
|
|
NM_001283009.2(RTEL1):c.2414-4dup
|
|
|
NM_001283009.2(RTEL1):c.2414-5T>C
|
|
|
NM_001283009.2(RTEL1):c.2414-6C>G
|
|
|
NM_001283009.2(RTEL1):c.2414-7C>T
|
rs2090721076
|
|
NM_001283009.2(RTEL1):c.2414-8C>T
|
rs1177086266
|
|
NM_001283009.2(RTEL1):c.2414-9C>A
|
|
|
NM_001283009.2(RTEL1):c.2414G>A (p.Gly805Glu)
|
|
|
NM_001283009.2(RTEL1):c.2415G>T (p.Gly805=)
|
|
|
NM_001283009.2(RTEL1):c.2417C>T (p.Ser806Leu)
|
|
|
NM_001283009.2(RTEL1):c.2419C>T (p.Pro807Ser)
|
|
|
NM_001283009.2(RTEL1):c.2421A>G (p.Pro807=)
|
|
|
NM_001283009.2(RTEL1):c.2422G>A (p.Ala808Thr)
|
|
|
NM_001283009.2(RTEL1):c.2428G>C (p.Gly810Arg)
|
|
|
NM_001283009.2(RTEL1):c.2430G>A (p.Gly810=)
|
rs760225851
|
|
NM_001283009.2(RTEL1):c.2431G>A (p.Asp811Asn)
|
|
|
NM_001283009.2(RTEL1):c.2431G>T (p.Asp811Tyr)
|
|
|
NM_001283009.2(RTEL1):c.2433C>T (p.Asp811=)
|
|
|
NM_001283009.2(RTEL1):c.2434C>A (p.Pro812Thr)
|
rs1601173488
|
|
NM_001283009.2(RTEL1):c.2435C>G (p.Pro812Arg)
|
|
|
NM_001283009.2(RTEL1):c.2436C>G (p.Pro812=)
|
|
|
NM_001283009.2(RTEL1):c.2437G>A (p.Glu813Lys)
|
|
|
NM_001283009.2(RTEL1):c.2439G>A (p.Glu813=)
|
|
|
NM_001283009.2(RTEL1):c.2441G>A (p.Ser814Asn)
|
|
|
NM_001283009.2(RTEL1):c.2441G>C (p.Ser814Thr)
|
|
|
NM_001283009.2(RTEL1):c.2441G>T (p.Ser814Ile)
|
|
|
NM_001283009.2(RTEL1):c.2443A>G (p.Ser815Gly)
|
|
|
NM_001283009.2(RTEL1):c.2446C>G (p.Leu816Val)
|
rs2145434398
|
|
NM_001283009.2(RTEL1):c.2449T>C (p.Cys817Arg)
|
|
|
NM_001283009.2(RTEL1):c.2450G>A (p.Cys817Tyr)
|
|
|
NM_001283009.2(RTEL1):c.2451T>C (p.Cys817=)
|
|
|
NM_001283009.2(RTEL1):c.2454G>A (p.Val818=)
|
rs1568713512
|
|
NM_001283009.2(RTEL1):c.2456A>G (p.Glu819Gly)
|
|
|
NM_001283009.2(RTEL1):c.2458_2459insTCA (p.Tyr820delinsPheAsn)
|
rs1254325984
|
|
NM_001283009.2(RTEL1):c.2461G>A (p.Glu821Lys)
|
|
|
NM_001283009.2(RTEL1):c.2461G>T (p.Glu821Ter)
|
rs2090722556
|
|
NM_001283009.2(RTEL1):c.2466G>A (p.Gln822=)
|
|
|
NM_001283009.2(RTEL1):c.2468del (p.Glu823fs)
|
|
|
NM_001283009.2(RTEL1):c.2469G>A (p.Glu823=)
|
rs1370303496
|
|
NM_001283009.2(RTEL1):c.2469G>T (p.Glu823Asp)
|
|
|
NM_001283009.2(RTEL1):c.2471C>A (p.Pro824Gln)
|
rs769874593
|
|
NM_001283009.2(RTEL1):c.2472A>C (p.Pro824=)
|
|
|
NM_001283009.2(RTEL1):c.2473G>A (p.Val825Ile)
|
|
|
NM_001283009.2(RTEL1):c.2475T>C (p.Val825=)
|
|
|
NM_001283009.2(RTEL1):c.2476C>T (p.Pro826Ser)
|
|
|
NM_001283009.2(RTEL1):c.2480C>T (p.Ala827Val)
|
|
|
NM_001283009.2(RTEL1):c.2482C>T (p.Arg828Trp)
|
|
|
NM_001283009.2(RTEL1):c.2484G>T (p.Arg828=)
|
|
|
NM_001283009.2(RTEL1):c.2485C>T (p.Gln829Ter)
|
rs1278121916
|
|
NM_001283009.2(RTEL1):c.2487G>A (p.Gln829=)
|
|
|
NM_001283009.2(RTEL1):c.2488A>T (p.Arg830Trp)
|
|
|
NM_001283009.2(RTEL1):c.2493C>T (p.Pro831=)
|
|
|
NM_001283009.2(RTEL1):c.2496G>A (p.Arg832=)
|
|
|
NM_001283009.2(RTEL1):c.2503C>T (p.Leu835=)
|
|
|
NM_001283009.2(RTEL1):c.2505G>A (p.Leu835=)
|
|
|
NM_001283009.2(RTEL1):c.2508C>A (p.Ala836=)
|
rs147245368
|
|
NM_001283009.2(RTEL1):c.2508C>G (p.Ala836=)
|
|
|
NM_001283009.2(RTEL1):c.2509G>T (p.Ala837Ser)
|
|
|
NM_001283009.2(RTEL1):c.2510C>T (p.Ala837Val)
|
|
|
NM_001283009.2(RTEL1):c.2512C>T (p.Leu838=)
|
rs996529824
|
|
NM_001283009.2(RTEL1):c.2519A>G (p.His840Arg)
|
|
|
NM_001283009.2(RTEL1):c.251G>A (p.Arg84Gln)
|
|
|
NM_001283009.2(RTEL1):c.251G>C (p.Arg84Pro)
|
|
|
NM_001283009.2(RTEL1):c.2520C>T (p.His840=)
|
rs1299433246
|
|
NM_001283009.2(RTEL1):c.2524G>A (p.Glu842Lys)
|
|
|
NM_001283009.2(RTEL1):c.2526A>C (p.Glu842Asp)
|
rs2145434771
|
|
NM_001283009.2(RTEL1):c.2528A>G (p.Gln843Arg)
|
rs2090724190
|
|
NM_001283009.2(RTEL1):c.2532G>A (p.Arg844=)
|
rs1467466353
|
|
NM_001283009.2(RTEL1):c.2535G>C (p.Ala845=)
|
|
|
NM_001283009.2(RTEL1):c.2536G>C (p.Gly846Arg)
|
|
|
NM_001283009.2(RTEL1):c.2538G>A (p.Gly846=)
|
|
|
NM_001283009.2(RTEL1):c.253G>A (p.Ala85Thr)
|
|
|
NM_001283009.2(RTEL1):c.2540G>A (p.Ser847Asn)
|
rs545991923
|
|
NM_001283009.2(RTEL1):c.2544T>A (p.Pro848=)
|
|
|
NM_001283009.2(RTEL1):c.2544_2545delinsCC (p.Gly849Arg)
|
rs2145434898
|
|
NM_001283009.2(RTEL1):c.2544_2545delinsCT (p.Gly849Cys)
|
rs2145434898
|
|
NM_001283009.2(RTEL1):c.2544_2545inv (p.Gly849Ser)
|
|
|
NM_001283009.2(RTEL1):c.2544_2548delinsCGGCA (p.Glu850Lys)
|
|
|
NM_001283009.2(RTEL1):c.2544del (p.Gly849fs)
|
|
|
NM_001283009.2(RTEL1):c.2547C>G (p.Gly849=)
|
|
|
NM_001283009.2(RTEL1):c.2554C>T (p.Gln852Ter)
|
rs2145434954
|
|
NM_001283009.2(RTEL1):c.2556+10C>G
|
|
|
NM_001283009.2(RTEL1):c.2556+10C>T
|
|
|
NM_001283009.2(RTEL1):c.2556+15C>A
|
|
|
NM_001283009.2(RTEL1):c.2556+15C>T
|
|
|
NM_001283009.2(RTEL1):c.2556+16C>T
|
|
|
NM_001283009.2(RTEL1):c.2556+5A>G
|
|
|
NM_001283009.2(RTEL1):c.2556+9C>G
|
|
|
NM_001283009.2(RTEL1):c.2556+9C>T
|
|
|
NM_001283009.2(RTEL1):c.2557-10T>G
|
|
|
NM_001283009.2(RTEL1):c.2557-13G>T
|
|
|
NM_001283009.2(RTEL1):c.2557-15C>G
|
|
|
NM_001283009.2(RTEL1):c.2557-16G>A
|
|
|
NM_001283009.2(RTEL1):c.2557-19T>C
|
|
|
NM_001283009.2(RTEL1):c.2557-19_2557-6del
|
|
|
NM_001283009.2(RTEL1):c.2557-1G>A
|
|
|
NM_001283009.2(RTEL1):c.2557-26_2557-10del
|
rs909213282
|
|
NM_001283009.2(RTEL1):c.2557-2A>G
|
|
|
NM_001283009.2(RTEL1):c.2557-5_2557-3del
|
rs1279921309
|
|
NM_001283009.2(RTEL1):c.2557-89G>C
|
rs2236507
|
|
NM_001283009.2(RTEL1):c.2557-8C>T
|
rs200385247
|
|
NM_001283009.2(RTEL1):c.2559C>G (p.Ala853=)
|
|
|
NM_001283009.2(RTEL1):c.2560C>G (p.His854Asp)
|
rs780005986
|
|
NM_001283009.2(RTEL1):c.2567G>A (p.Cys856Tyr)
|
|
|
NM_001283009.2(RTEL1):c.2570C>T (p.Ser857Phe)
|
|
|
NM_001283009.2(RTEL1):c.2571C>T (p.Ser857=)
|
rs2090750852
|
|
NM_001283009.2(RTEL1):c.2574C>G (p.Thr858=)
|
rs2145439077
|
|
NM_001283009.2(RTEL1):c.2574C>T (p.Thr858=)
|
|
|
NM_001283009.2(RTEL1):c.2575_2576del (p.Leu859fs)
|
|
|
NM_001283009.2(RTEL1):c.2576T>C (p.Leu859Pro)
|
|
|
NM_001283009.2(RTEL1):c.2577G>C (p.Leu859=)
|
|
|
NM_001283009.2(RTEL1):c.2581C>T (p.Leu861Phe)
|
|
|
NM_001283009.2(RTEL1):c.2583C>G (p.Leu861=)
|
rs371578010
|
|
NM_001283009.2(RTEL1):c.2584C>T (p.Leu862=)
|
rs375344250
|
|
NM_001283009.2(RTEL1):c.2584_2593del (p.Leu862fs)
|
rs2145439154
|
|
NM_001283009.2(RTEL1):c.2585T>G (p.Leu862Arg)
|
rs765909720
|
|
NM_001283009.2(RTEL1):c.2586G>A (p.Leu862=)
|
rs376383608
|
|
NM_001283009.2(RTEL1):c.2586G>C (p.Leu862=)
|
rs376383608
|
|
NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs)
|
rs752833281
|
|
NM_001283009.2(RTEL1):c.2588C>T (p.Ser863Phe)
|
rs1029017182
|
|
NM_001283009.2(RTEL1):c.2591A>C (p.Glu864Ala)
|
rs2145439184
|
|
NM_001283009.2(RTEL1):c.2596A>C (p.Arg866=)
|
rs2145439189
|
|
NM_001283009.2(RTEL1):c.2598G>A (p.Arg866=)
|
rs2145439204
|
|
NM_001283009.2(RTEL1):c.2599C>G (p.Pro867Ala)
|
|
|
NM_001283009.2(RTEL1):c.259T>C (p.Ser87Pro)
|
|
|
NM_001283009.2(RTEL1):c.2600C>G (p.Pro867Arg)
|
|
|
NM_001283009.2(RTEL1):c.2601G>C (p.Pro867=)
|
|
|
NM_001283009.2(RTEL1):c.2602G>A (p.Ala868Thr)
|
rs2090751615
|
|
NM_001283009.2(RTEL1):c.2613G>C (p.Pro871=)
|
|
|
NM_001283009.2(RTEL1):c.2613G>T (p.Pro871=)
|
rs758611174
|
|
NM_001283009.2(RTEL1):c.2615G>A (p.Arg872Gln)
|
|
|
NM_001283009.2(RTEL1):c.2616AGG[1] (p.Gly874del)
|
|
|
NM_001283009.2(RTEL1):c.2617G>A (p.Gly873Arg)
|
rs2090752058
|
|
NM_001283009.2(RTEL1):c.2618G>A (p.Gly873Glu)
|
|
|
NM_001283009.2(RTEL1):c.261A>C (p.Ser87=)
|
|
|
NM_001283009.2(RTEL1):c.2620G>T (p.Gly874Trp)
|
|
|
NM_001283009.2(RTEL1):c.2622G>A (p.Gly874=)
|
|
|
NM_001283009.2(RTEL1):c.2622G>C (p.Gly874=)
|
|
|
NM_001283009.2(RTEL1):c.2622G>T (p.Gly874=)
|
|
|
NM_001283009.2(RTEL1):c.2625G>A (p.Arg875=)
|
rs1601177031
|
|
NM_001283009.2(RTEL1):c.2628G>A (p.Lys876=)
|
|
|
NM_001283009.2(RTEL1):c.2634C>G (p.Ile878Met)
|
|
|
NM_001283009.2(RTEL1):c.2635del (p.Arg879fs)
|
rs1555812480
|
|
NM_001283009.2(RTEL1):c.2636G>A (p.Arg879Gln)
|
rs770539835
|
|
NM_001283009.2(RTEL1):c.2636G>C (p.Arg879Pro)
|
rs770539835
|
|
NM_001283009.2(RTEL1):c.2636G>T (p.Arg879Leu)
|
rs770539835
|
|
NM_001283009.2(RTEL1):c.2638C>T (p.Leu880=)
|
|
|
NM_001283009.2(RTEL1):c.263C>T (p.Ser88Phe)
|
rs758172246
|
|
NM_001283009.2(RTEL1):c.2643C>T (p.Val881=)
|
|
|
NM_001283009.2(RTEL1):c.2645G>A (p.Ser882Asn)
|
|
|
NM_001283009.2(RTEL1):c.2646C>G (p.Ser882Arg)
|
|
|
NM_001283009.2(RTEL1):c.2647C>A (p.His883Asn)
|
|
|
NM_001283009.2(RTEL1):c.2651C>G (p.Pro884Arg)
|
|
|
NM_001283009.2(RTEL1):c.2652+13T>A
|
|
|
NM_001283009.2(RTEL1):c.2652+13T>G
|
|
|
NM_001283009.2(RTEL1):c.2652+13_2652+18del
|
rs758744004
|
|
NM_001283009.2(RTEL1):c.2652+14C>A
|
|
|
NM_001283009.2(RTEL1):c.2652+15C>G
|
|
|
NM_001283009.2(RTEL1):c.2652+16C>G
|
|
|
NM_001283009.2(RTEL1):c.2652+16C>T
|
|
|
NM_001283009.2(RTEL1):c.2652+18G>A
|
|
|
NM_001283009.2(RTEL1):c.2652+19C>A
|
|
|
NM_001283009.2(RTEL1):c.2652+20A>C
|
|
|
NM_001283009.2(RTEL1):c.2652+5G>A
|
rs1555812507
|
|
NM_001283009.2(RTEL1):c.2652+7G>C
|
|
|
NM_001283009.2(RTEL1):c.2652+8A>C
|
|
|
NM_001283009.2(RTEL1):c.2653-11G>C
|
|
|
NM_001283009.2(RTEL1):c.2653-12T>C
|
|
|
NM_001283009.2(RTEL1):c.2653-13C>T
|
|
|
NM_001283009.2(RTEL1):c.2653-14C>G
|
|
|
NM_001283009.2(RTEL1):c.2653-16G>T
|
|
|
NM_001283009.2(RTEL1):c.2653-17G>C
|
|
|
NM_001283009.2(RTEL1):c.2653-18C>G
|
|
|
NM_001283009.2(RTEL1):c.2653-20C>G
|
rs776381697
|
|
NM_001283009.2(RTEL1):c.2653-33_2653-11del
|
|
|
NM_001283009.2(RTEL1):c.2653-6C>G
|
|
|
NM_001283009.2(RTEL1):c.2653-6C>T
|
rs1601181865
|
|
NM_001283009.2(RTEL1):c.2653-7C>G
|
rs1472538837
|
|
NM_001283009.2(RTEL1):c.2653-7C>T
|
rs1472538837
|
|
NM_001283009.2(RTEL1):c.2653-9G>A
|
|
|
NM_001283009.2(RTEL1):c.2653G>C (p.Glu885Gln)
|
rs2090784564
|
|
NM_001283009.2(RTEL1):c.2653G>T (p.Glu885Ter)
|
rs2090784564
|
|
NM_001283009.2(RTEL1):c.2654A>G (p.Glu885Gly)
|
|
|
NM_001283009.2(RTEL1):c.2656G>A (p.Glu886Lys)
|
|
|
NM_001283009.2(RTEL1):c.2658G>A (p.Glu886=)
|
rs775722854
|
|
NM_001283009.2(RTEL1):c.2658G>T (p.Glu886Asp)
|
|
|
NM_001283009.2(RTEL1):c.2659C>T (p.Pro887Ser)
|
rs1399014030
|
|
NM_001283009.2(RTEL1):c.265T>C (p.Trp89Arg)
|
rs2090019014
|
|
NM_001283009.2(RTEL1):c.2660C>T (p.Pro887Leu)
|
rs1568717000
|
|
NM_001283009.2(RTEL1):c.2661C>A (p.Pro887=)
|
rs3848671
|
|
NM_001283009.2(RTEL1):c.2661C>G (p.Pro887=)
|
rs3848671
|
|
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.2663T>G (p.Val888Gly)
|
|
|
NM_001283009.2(RTEL1):c.2665G>C (p.Ala889Pro)
|
|
|
NM_001283009.2(RTEL1):c.2670T>C (p.Gly890=)
|
rs750863266
|
|
NM_001283009.2(RTEL1):c.2670T>G (p.Gly890=)
|
|
|
NM_001283009.2(RTEL1):c.2671_2686del (p.Ala891fs)
|
rs2145445706
|
|
NM_001283009.2(RTEL1):c.2673A>G (p.Ala891=)
|
|
|
NM_001283009.2(RTEL1):c.2679G>C (p.Thr893=)
|
rs754389601
|
|
NM_001283009.2(RTEL1):c.2679G>T (p.Thr893=)
|
rs754389601
|
|
NM_001283009.2(RTEL1):c.2682C>G (p.Asp894Glu)
|
rs535831345
|
|
NM_001283009.2(RTEL1):c.2682C>T (p.Asp894=)
|
|
|
NM_001283009.2(RTEL1):c.2683A>G (p.Arg895Gly)
|
rs2090785759
|
|
NM_001283009.2(RTEL1):c.2683A>T (p.Arg895Trp)
|
|
|
NM_001283009.2(RTEL1):c.2684G>A (p.Arg895Lys)
|
rs150564915
|
|
NM_001283009.2(RTEL1):c.2684G>C (p.Arg895Thr)
|
|
|
NM_001283009.2(RTEL1):c.2685G>A (p.Arg895=)
|
|
|
NM_001283009.2(RTEL1):c.2686G>A (p.Ala896Thr)
|
|
|
NM_001283009.2(RTEL1):c.2688C>G (p.Ala896=)
|
|
|
NM_001283009.2(RTEL1):c.2688C>T (p.Ala896=)
|
|
|
NM_001283009.2(RTEL1):c.2690A>G (p.Lys897Arg)
|
|
|
NM_001283009.2(RTEL1):c.2694C>A (p.Leu898=)
|
|
|
NM_001283009.2(RTEL1):c.2694C>T (p.Leu898=)
|
|
|
NM_001283009.2(RTEL1):c.2697C>T (p.Phe899=)
|
|
|
NM_001283009.2(RTEL1):c.2698A>C (p.Met900Leu)
|
rs749041304
|
|
NM_001283009.2(RTEL1):c.2698A>G (p.Met900Val)
|
|
|
NM_001283009.2(RTEL1):c.2699T>G (p.Met900Arg)
|
|
|
NM_001283009.2(RTEL1):c.2706C>G (p.Ala902=)
|
rs116788553
|
|
NM_001283009.2(RTEL1):c.270C>A (p.Gly90=)
|
|
|
NM_001283009.2(RTEL1):c.2713C>G (p.Gln905Glu)
|
rs768610590
|
|
NM_001283009.2(RTEL1):c.2713C>T (p.Gln905Ter)
|
|
|
NM_001283009.2(RTEL1):c.2714A>C (p.Gln905Pro)
|
rs2090786703
|
|
NM_001283009.2(RTEL1):c.2715G>A (p.Gln905=)
|
rs1278177922
|
|
NM_001283009.2(RTEL1):c.2715G>C (p.Gln905His)
|
rs1278177922
|
|
NM_001283009.2(RTEL1):c.2718G>A (p.Glu906=)
|
rs765888621
|
|
NM_001283009.2(RTEL1):c.2718G>C (p.Glu906Asp)
|
|
|
NM_001283009.2(RTEL1):c.271A>G (p.Asn91Asp)
|
|
|
NM_001283009.2(RTEL1):c.2721G>T (p.Leu907Phe)
|
|
|
NM_001283009.2(RTEL1):c.2722A>G (p.Ser908Gly)
|
rs2090787000
|
|
NM_001283009.2(RTEL1):c.2724C>T (p.Ser908=)
|
|
|
NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter)
|
rs866637461
|
|
NM_001283009.2(RTEL1):c.2726A>C (p.Gln909Pro)
|
|
|
NM_001283009.2(RTEL1):c.2727A>G (p.Gln909=)
|
rs2145446108
|
|
NM_001283009.2(RTEL1):c.2729C>T (p.Ala910Val)
|
|
|
NM_001283009.2(RTEL1):c.272A>G (p.Asn91Ser)
|
rs941773443
|
|
NM_001283009.2(RTEL1):c.272A>T (p.Asn91Ile)
|
|
|
NM_001283009.2(RTEL1):c.2730C>A (p.Ala910=)
|
|
|
NM_001283009.2(RTEL1):c.2730C>T (p.Ala910=)
|
rs1200841323
|
|
NM_001283009.2(RTEL1):c.2732A>G (p.Asn911Ser)
|
|
|
NM_001283009.2(RTEL1):c.2733C>G (p.Asn911Lys)
|
rs372027131
|
|
NM_001283009.2(RTEL1):c.2733C>T (p.Asn911=)
|
rs372027131
|
|
NM_001283009.2(RTEL1):c.2734T>C (p.Phe912Leu)
|
|
|
NM_001283009.2(RTEL1):c.2736T>C (p.Phe912=)
|
rs755652402
|
|
NM_001283009.2(RTEL1):c.2739C>T (p.Ala913=)
|
rs1601182369
|
|
NM_001283009.2(RTEL1):c.273C>T (p.Asn91=)
|
rs779793496
|
|
NM_001283009.2(RTEL1):c.2740A>G (p.Thr914Ala)
|
|
|
NM_001283009.2(RTEL1):c.2742C>A (p.Thr914=)
|
rs777637767
|
|
NM_001283009.2(RTEL1):c.2742C>G (p.Thr914=)
|
rs777637767
|
|
NM_001283009.2(RTEL1):c.2742C>T (p.Thr914=)
|
rs777637767
|
|
NM_001283009.2(RTEL1):c.2745C>G (p.Phe915Leu)
|
rs1376717154
|
|
NM_001283009.2(RTEL1):c.2745C>T (p.Phe915=)
|
rs1376717154
|
|
NM_001283009.2(RTEL1):c.2746A>T (p.Thr916Ser)
|
|
|
NM_001283009.2(RTEL1):c.2747C>G (p.Thr916Ser)
|
|
|
NM_001283009.2(RTEL1):c.2748C>G (p.Thr916=)
|
|
|
NM_001283009.2(RTEL1):c.2749C>T (p.Gln917Ter)
|
|
|
NM_001283009.2(RTEL1):c.2749del (p.Gln917fs)
|
|
|
NM_001283009.2(RTEL1):c.274G>A (p.Ala92Thr)
|
rs1404412328
|
|
NM_001283009.2(RTEL1):c.2750del (p.Gln917fs)
|
|
|
NM_001283009.2(RTEL1):c.2754C>G (p.Ala918=)
|
rs201754938
|
|
NM_001283009.2(RTEL1):c.2755C>G (p.Leu919Val)
|
|
|
NM_001283009.2(RTEL1):c.2755C>T (p.Leu919=)
|
|
|
NM_001283009.2(RTEL1):c.2757G>A (p.Leu919=)
|
rs1384223139
|
|
NM_001283009.2(RTEL1):c.2757G>T (p.Leu919=)
|
rs1384223139
|
|
NM_001283009.2(RTEL1):c.2759A>G (p.Gln920Arg)
|
rs2090788449
|
|
NM_001283009.2(RTEL1):c.275C>G (p.Ala92Gly)
|
|
|
NM_001283009.2(RTEL1):c.275CTG[4] (p.Ala96del)
|
|
|
NM_001283009.2(RTEL1):c.275CTG[6] (p.Ala96dup)
|
rs769909059
|
|
NM_001283009.2(RTEL1):c.275CTG[7] (p.Ala95_Ala96dup)
|
rs769909059
|
|
NM_001283009.2(RTEL1):c.2760G>A (p.Gln920=)
|
rs1330703717
|
|
NM_001283009.2(RTEL1):c.2762A>G (p.Asp921Gly)
|
|
|
NM_001283009.2(RTEL1):c.2765A>G (p.Tyr922Cys)
|
|
|
NM_001283009.2(RTEL1):c.2766C>T (p.Tyr922=)
|
rs1216056013
|
|
NM_001283009.2(RTEL1):c.2771G>A (p.Gly924Asp)
|
|
|
NM_001283009.2(RTEL1):c.2774C>A (p.Ser925Tyr)
|
|
|
NM_001283009.2(RTEL1):c.2774C>G (p.Ser925Cys)
|
rs770018942
|
|
NM_001283009.2(RTEL1):c.2774C>T (p.Ser925Phe)
|
|
|
NM_001283009.2(RTEL1):c.2778T>C (p.Asp926=)
|
|
|
NM_001283009.2(RTEL1):c.2779G>A (p.Asp927Asn)
|
|
|
NM_001283009.2(RTEL1):c.277G>A (p.Ala93Thr)
|
rs2146149148
|
|
NM_001283009.2(RTEL1):c.2781C>T (p.Asp927=)
|
rs767158073
|
|
NM_001283009.2(RTEL1):c.2782_2992+170del
|
rs2090789401
|
|
NM_001283009.2(RTEL1):c.2783_2784del (p.Phe928fs)
|
|
|
NM_001283009.2(RTEL1):c.2784C>T (p.Phe928=)
|
rs3848672
|
|
NM_001283009.2(RTEL1):c.2784_2785delinsTA (p.Ala929Thr)
|
rs1601182623
|
|
NM_001283009.2(RTEL1):c.2784_2785delinsTC (p.Ala929Pro)
|
|
|
NM_001283009.2(RTEL1):c.2787C>A (p.Ala929=)
|
|
|
NM_001283009.2(RTEL1):c.2788G>C (p.Ala930Pro)
|
rs371721039
|
|
NM_001283009.2(RTEL1):c.2790C>T (p.Ala930=)
|
|
|
NM_001283009.2(RTEL1):c.2791C>T (p.Leu931=)
|
rs2145446620
|
|
NM_001283009.2(RTEL1):c.2793G>A (p.Leu931=)
|
|
|
NM_001283009.2(RTEL1):c.2794G>A (p.Ala932Thr)
|
|
|
NM_001283009.2(RTEL1):c.2796C>A (p.Ala932=)
|
|
|
NM_001283009.2(RTEL1):c.2797G>A (p.Ala933Thr)
|
rs781430438
|
|
NM_001283009.2(RTEL1):c.2797G>T (p.Ala933Ser)
|
rs781430438
|
|
NM_001283009.2(RTEL1):c.2799C>A (p.Ala933=)
|
|
|
NM_001283009.2(RTEL1):c.2799C>G (p.Ala933=)
|
rs929062749
|
|
NM_001283009.2(RTEL1):c.2799C>T (p.Ala933=)
|
rs929062749
|
|
NM_001283009.2(RTEL1):c.279T>C (p.Ala93=)
|
|
|
NM_001283009.2(RTEL1):c.2801G>A (p.Cys934Tyr)
|
rs1263651818
|
|
NM_001283009.2(RTEL1):c.2801G>C (p.Cys934Ser)
|
rs1263651818
|
|
NM_001283009.2(RTEL1):c.2802T>A (p.Cys934Ter)
|
|
|
NM_001283009.2(RTEL1):c.2802T>C (p.Cys934=)
|
|
|
NM_001283009.2(RTEL1):c.2806G>A (p.Gly936Ser)
|
|
|
NM_001283009.2(RTEL1):c.2807G>T (p.Gly936Val)
|
|
|
NM_001283009.2(RTEL1):c.2808C>T (p.Gly936=)
|
rs774750824
|
|
NM_001283009.2(RTEL1):c.280G>A (p.Ala94Thr)
|
rs371690600
|
|
NM_001283009.2(RTEL1):c.2810C>G (p.Pro937Arg)
|
|
|
NM_001283009.2(RTEL1):c.2811C>A (p.Pro937=)
|
rs1181105745
|
|
NM_001283009.2(RTEL1):c.2811C>G (p.Pro937=)
|
|
|
NM_001283009.2(RTEL1):c.2812C>G (p.Leu938Val)
|
|
|
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs)
|
rs1449687529
|
|
NM_001283009.2(RTEL1):c.2813T>C (p.Leu938Pro)
|
|
|
NM_001283009.2(RTEL1):c.2814C>G (p.Leu938=)
|
|
|
NM_001283009.2(RTEL1):c.2814C>T (p.Leu938=)
|
|
|
NM_001283009.2(RTEL1):c.2817T>C (p.Phe939=)
|
|
|
NM_001283009.2(RTEL1):c.2818del (p.Ala940fs)
|
|
|
NM_001283009.2(RTEL1):c.2821G>A (p.Glu941Lys)
|
|
|
NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter)
|
rs906116592
|
|
NM_001283009.2(RTEL1):c.2822A>C (p.Glu941Ala)
|
|
|
NM_001283009.2(RTEL1):c.2823G>A (p.Glu941=)
|
|
|
NM_001283009.2(RTEL1):c.2825A>G (p.Asp942Gly)
|
|
|
NM_001283009.2(RTEL1):c.2826C>T (p.Asp942=)
|
|
|
NM_001283009.2(RTEL1):c.2827C>G (p.Pro943Ala)
|
|
|
NM_001283009.2(RTEL1):c.2827C>T (p.Pro943Ser)
|
|
|
NM_001283009.2(RTEL1):c.2828C>G (p.Pro943Arg)
|
rs142969505
|
|
NM_001283009.2(RTEL1):c.2828C>T (p.Pro943Leu)
|
rs142969505
|
|
NM_001283009.2(RTEL1):c.2829C>A (p.Pro943=)
|
|
|
NM_001283009.2(RTEL1):c.2829C>T (p.Pro943=)
|
rs774862674
|
|
NM_001283009.2(RTEL1):c.2830A>G (p.Lys944Glu)
|
|
|
NM_001283009.2(RTEL1):c.2831A>G (p.Lys944Arg)
|
|
|
NM_001283009.2(RTEL1):c.2832G>A (p.Lys944=)
|
rs147040733
|
|
NM_001283009.2(RTEL1):c.2832G>C (p.Lys944Asn)
|
|
|
NM_001283009.2(RTEL1):c.2833A>G (p.Lys945Glu)
|
|
|
NM_001283009.2(RTEL1):c.2836C>T (p.His946Tyr)
|
rs1375502785
|
|
NM_001283009.2(RTEL1):c.2838C>G (p.His946Gln)
|
|
|
NM_001283009.2(RTEL1):c.2839A>C (p.Asn947His)
|
|
|
NM_001283009.2(RTEL1):c.2840A>G (p.Asn947Ser)
|
rs761268803
|
|
NM_001283009.2(RTEL1):c.2843T>G (p.Leu948Arg)
|
|
|
NM_001283009.2(RTEL1):c.2844G>A (p.Leu948=)
|
rs758337310
|
|
NM_001283009.2(RTEL1):c.2844G>C (p.Leu948=)
|
rs758337310
|
|
NM_001283009.2(RTEL1):c.2847C>A (p.Leu949=)
|
rs766185347
|
|
NM_001283009.2(RTEL1):c.2847C>G (p.Leu949=)
|
rs766185347
|
|
NM_001283009.2(RTEL1):c.2847C>T (p.Leu949=)
|
rs766185347
|
|
NM_001283009.2(RTEL1):c.2849A>G (p.Gln950Arg)
|
rs2145447147
|
|
NM_001283009.2(RTEL1):c.2850del (p.Gly951fs)
|
rs2090792717
|
|
NM_001283009.2(RTEL1):c.2851+10C>G
|
|
|
NM_001283009.2(RTEL1):c.2851+10C>T
|
|
|
NM_001283009.2(RTEL1):c.2851+11T>C
|
rs2090793329
|
|
NM_001283009.2(RTEL1):c.2851+12T>G
|
|
|
NM_001283009.2(RTEL1):c.2851+13G>T
|
|
|
NM_001283009.2(RTEL1):c.2851+15A>G
|
rs2145447308
|
|
NM_001283009.2(RTEL1):c.2851+16G>C
|
rs757293061
|
|
NM_001283009.2(RTEL1):c.2851+18G>C
|
|
|
NM_001283009.2(RTEL1):c.2851+19G>A
|
|
|
NM_001283009.2(RTEL1):c.2851+19G>T
|
rs373177624
|
|
NM_001283009.2(RTEL1):c.2851+1G>A
|
rs1421904176
|
|
NM_001283009.2(RTEL1):c.2851+20C>G
|
|
|
NM_001283009.2(RTEL1):c.2851+20C>T
|
|
|
NM_001283009.2(RTEL1):c.2851+22_2851+45dup
|
|
|
NM_001283009.2(RTEL1):c.2851+4C>T
|
rs751450627
|
|
NM_001283009.2(RTEL1):c.2851+5C>T
|
|
|
NM_001283009.2(RTEL1):c.2851+6C>G
|
rs1601183088
|
|
NM_001283009.2(RTEL1):c.2851+7T>C
|
|
|
NM_001283009.2(RTEL1):c.2851+7T>G
|
|
|
NM_001283009.2(RTEL1):c.2851+7_2851+18delinsCAA
|
|
|
NM_001283009.2(RTEL1):c.2852-12C>A
|
|
|
NM_001283009.2(RTEL1):c.2852-12C>G
|
|
|
NM_001283009.2(RTEL1):c.2852-12C>T
|
rs745776915
|
|
NM_001283009.2(RTEL1):c.2852-12del
|
|
|
NM_001283009.2(RTEL1):c.2852-13C>G
|
rs770559649
|
|
NM_001283009.2(RTEL1):c.2852-13C>T
|
|
|
NM_001283009.2(RTEL1):c.2852-14C>G
|
|
|
NM_001283009.2(RTEL1):c.2852-15C>A
|
|
|
NM_001283009.2(RTEL1):c.2852-17C>A
|
|
|
NM_001283009.2(RTEL1):c.2852-18A>C
|
|
|
NM_001283009.2(RTEL1):c.2852-18A>G
|
|
|
NM_001283009.2(RTEL1):c.2852-19G>A
|
|
|
NM_001283009.2(RTEL1):c.2852-19G>C
|
|
|
NM_001283009.2(RTEL1):c.2852-19G>T
|
|
|
NM_001283009.2(RTEL1):c.2852-1G>A
|
|
|
NM_001283009.2(RTEL1):c.2852-20A>C
|
|
|
NM_001283009.2(RTEL1):c.2852-20A>G
|
|
|
NM_001283009.2(RTEL1):c.2852-2A>C
|
|
|
NM_001283009.2(RTEL1):c.2852-3C>T
|
|
|
NM_001283009.2(RTEL1):c.2852-5T>C
|
rs1601184089
|
|
NM_001283009.2(RTEL1):c.2852-6C>T
|
rs1179686618
|
|
NM_001283009.2(RTEL1):c.2852-8C>A
|
rs1385275802
|
|
NM_001283009.2(RTEL1):c.2852-8C>T
|
rs1385275802
|
|
NM_001283009.2(RTEL1):c.2852G>C (p.Gly951Ala)
|
rs925928624
|
|
NM_001283009.2(RTEL1):c.2853C>A (p.Gly951=)
|
rs763959402
|
|
NM_001283009.2(RTEL1):c.2853C>T (p.Gly951=)
|
|
|
NM_001283009.2(RTEL1):c.2854T>C (p.Phe952Leu)
|
rs1601184120
|
|
NM_001283009.2(RTEL1):c.2856C>T (p.Phe952=)
|
rs1041575386
|
|
NM_001283009.2(RTEL1):c.2857T>C (p.Tyr953His)
|
|
|
NM_001283009.2(RTEL1):c.2859C>A (p.Tyr953Ter)
|
|
|
NM_001283009.2(RTEL1):c.2859C>T (p.Tyr953=)
|
rs1601184152
|
|
NM_001283009.2(RTEL1):c.285T>C (p.Ala95=)
|
|
|
NM_001283009.2(RTEL1):c.2860C>A (p.Gln954Lys)
|
rs1159070520
|
|
NM_001283009.2(RTEL1):c.2860C>G (p.Gln954Glu)
|
|
|
NM_001283009.2(RTEL1):c.2861A>G (p.Gln954Arg)
|
|
|
NM_001283009.2(RTEL1):c.2862G>A (p.Gln954=)
|
rs2090803221
|
|
NM_001283009.2(RTEL1):c.2865T>C (p.Phe955=)
|
|
|
NM_001283009.2(RTEL1):c.2869C>A (p.Arg957=)
|
rs398123018
|
|
NM_001283009.2(RTEL1):c.2870G>C (p.Arg957Pro)
|
|
|
NM_001283009.2(RTEL1):c.2871G>A (p.Arg957=)
|
rs1282351226
|
|
NM_001283009.2(RTEL1):c.2874C>G (p.Pro958=)
|
|
|
NM_001283009.2(RTEL1):c.2874C>T (p.Pro958=)
|
rs369953611
|
|
NM_001283009.2(RTEL1):c.2875C>T (p.His959Tyr)
|
rs1334634497
|
|
NM_001283009.2(RTEL1):c.2877C>T (p.His959=)
|
rs373996455
|
|
NM_001283009.2(RTEL1):c.287C>G (p.Ala96Gly)
|
|
|
NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter)
|
rs1555813144
|
|
NM_001283009.2(RTEL1):c.2882A>G (p.Lys961Arg)
|
rs2145448755
|
|
NM_001283009.2(RTEL1):c.2884C>A (p.Gln962Lys)
|
|
|
NM_001283009.2(RTEL1):c.2884C>G (p.Gln962Glu)
|
|
|
NM_001283009.2(RTEL1):c.2886G>A (p.Gln962=)
|
rs757018726
|
|
NM_001283009.2(RTEL1):c.2887C>T (p.Gln963Ter)
|
|
|
NM_001283009.2(RTEL1):c.2889G>A (p.Gln963=)
|
rs1274218203
|
|
NM_001283009.2(RTEL1):c.2891T>A (p.Phe964Tyr)
|
|
|
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu)
|
rs1470145133
|
|
NM_001283009.2(RTEL1):c.2893G>A (p.Glu965Lys)
|
|
|
NM_001283009.2(RTEL1):c.2893G>C (p.Glu965Gln)
|
|
|
NM_001283009.2(RTEL1):c.2895G>A (p.Glu965=)
|
|
|
NM_001283009.2(RTEL1):c.2895G>C (p.Glu965Asp)
|
rs745327960
|
|
NM_001283009.2(RTEL1):c.2898G>A (p.Glu966=)
|
rs115464632
|
|
NM_001283009.2(RTEL1):c.2899G>A (p.Val967Ile)
|
|
|
NM_001283009.2(RTEL1):c.2899G>T (p.Val967Phe)
|
|
|
NM_001283009.2(RTEL1):c.2901C>T (p.Val967=)
|
rs1437204344
|
|
NM_001283009.2(RTEL1):c.2904T>C (p.Cys968=)
|
rs1474203821
|
|
NM_001283009.2(RTEL1):c.2905A>G (p.Ile969Val)
|
|
|
NM_001283009.2(RTEL1):c.2907C>T (p.Ile969=)
|
|
|
NM_001283009.2(RTEL1):c.2909A>G (p.Gln970Arg)
|
rs2090804992
|
|
NM_001283009.2(RTEL1):c.2909A>T (p.Gln970Leu)
|
rs2090804992
|
|
NM_001283009.2(RTEL1):c.2910G>A (p.Gln970=)
|
rs766629738
|
|
NM_001283009.2(RTEL1):c.2910G>C (p.Gln970His)
|
|
|
NM_001283009.2(RTEL1):c.2913G>A (p.Leu971=)
|
rs2090805160
|
|
NM_001283009.2(RTEL1):c.2913G>C (p.Leu971=)
|
|
|
NM_001283009.2(RTEL1):c.2915C>A (p.Thr972Lys)
|
rs199834369
|
|
NM_001283009.2(RTEL1):c.2916A>G (p.Thr972=)
|
rs2090805293
|
|
NM_001283009.2(RTEL1):c.2917G>A (p.Gly973Arg)
|
|
|
NM_001283009.2(RTEL1):c.2918G>A (p.Gly973Glu)
|
rs2145448980
|
|
NM_001283009.2(RTEL1):c.2920C>A (p.Arg974=)
|
rs398123017
|
|
NM_001283009.2(RTEL1):c.2921G>C (p.Arg974Pro)
|
|
|
NM_001283009.2(RTEL1):c.2922A>C (p.Arg974=)
|
rs2145449025
|
|
NM_001283009.2(RTEL1):c.2922A>G (p.Arg974=)
|
rs2145449025
|
|
NM_001283009.2(RTEL1):c.2924G>A (p.Gly975Asp)
|
|
|
NM_001283009.2(RTEL1):c.2924G>C (p.Gly975Ala)
|
rs757725471
|
|
NM_001283009.2(RTEL1):c.2924del (p.Gly975fs)
|
|
|
NM_001283009.2(RTEL1):c.2925C>A (p.Gly975=)
|
rs2090805771
|
|
NM_001283009.2(RTEL1):c.2925C>G (p.Gly975=)
|
|
|
NM_001283009.2(RTEL1):c.2928T>C (p.Cys976=)
|
rs2145449075
|
|
NM_001283009.2(RTEL1):c.2928T>G (p.Cys976Trp)
|
|
|
NM_001283009.2(RTEL1):c.2930G>A (p.Gly977Asp)
|
rs2145449091
|
|
NM_001283009.2(RTEL1):c.2931C>A (p.Gly977=)
|
rs2090805930
|
|
NM_001283009.2(RTEL1):c.2931C>G (p.Gly977=)
|
rs2090805930
|
|
NM_001283009.2(RTEL1):c.2931C>T (p.Gly977=)
|
|
|
NM_001283009.2(RTEL1):c.2932T>C (p.Tyr978His)
|
rs534046818
|
|
NM_001283009.2(RTEL1):c.2933A>G (p.Tyr978Cys)
|
rs750109305
|
|
NM_001283009.2(RTEL1):c.2933A>T (p.Tyr978Phe)
|
rs750109305
|
|
NM_001283009.2(RTEL1):c.2933_2936dup (p.Pro980fs)
|
|
|
NM_001283009.2(RTEL1):c.2935C>A (p.Arg979=)
|
rs144034326
|
|
NM_001283009.2(RTEL1):c.2936G>A (p.Arg979Gln)
|
|
|
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.2940T>G (p.Pro980=)
|
rs141618172
|
|
NM_001283009.2(RTEL1):c.2940_2956del (p.Glu981fs)
|
|
|
NM_001283009.2(RTEL1):c.2941G>A (p.Glu981Lys)
|
|
|
NM_001283009.2(RTEL1):c.2943G>A (p.Glu981=)
|
|
|
NM_001283009.2(RTEL1):c.2943G>C (p.Glu981Asp)
|
|
|
NM_001283009.2(RTEL1):c.2944C>T (p.His982Tyr)
|
|
|
NM_001283009.2(RTEL1):c.2945A>G (p.His982Arg)
|
|
|
NM_001283009.2(RTEL1):c.2947A>G (p.Ser983Gly)
|
|
|
NM_001283009.2(RTEL1):c.2948G>A (p.Ser983Asn)
|
|
|
NM_001283009.2(RTEL1):c.2948G>C (p.Ser983Thr)
|
|
|
NM_001283009.2(RTEL1):c.2949C>T (p.Ser983=)
|
|
|
NM_001283009.2(RTEL1):c.294C>T (p.Asp98=)
|
rs2146149184
|
|
NM_001283009.2(RTEL1):c.2950A>C (p.Ile984Leu)
|
|
|
NM_001283009.2(RTEL1):c.2952T>A (p.Ile984=)
|
|
|
NM_001283009.2(RTEL1):c.2953C>A (p.Pro985Thr)
|
rs772031890
|
|
NM_001283009.2(RTEL1):c.2954C>A (p.Pro985His)
|
rs1462195263
|
|
NM_001283009.2(RTEL1):c.2955C>G (p.Pro985=)
|
rs2090808224
|
|
NM_001283009.2(RTEL1):c.2956C>A (p.Arg986=)
|
|
|
NM_001283009.2(RTEL1):c.2956del (p.Arg986fs)
|
rs1285014916
|
|
NM_001283009.2(RTEL1):c.2957G>T (p.Arg986Leu)
|
|
|
NM_001283009.2(RTEL1):c.2958A>G (p.Arg986=)
|
|
|
NM_001283009.2(RTEL1):c.2964G>A (p.Gln988=)
|
rs1380817783
|
|
NM_001283009.2(RTEL1):c.2966G>A (p.Arg989Gln)
|
|
|
NM_001283009.2(RTEL1):c.2966G>C (p.Arg989Pro)
|
|
|
NM_001283009.2(RTEL1):c.2967G>A (p.Arg989=)
|
rs2090809210
|
|
NM_001283009.2(RTEL1):c.2968G>A (p.Ala990Thr)
|
rs751124641
|
|
NM_001283009.2(RTEL1):c.2969C>G (p.Ala990Gly)
|
|
|
NM_001283009.2(RTEL1):c.2969C>T (p.Ala990Val)
|
rs370171864
|
|
NM_001283009.2(RTEL1):c.2970A>T (p.Ala990=)
|
|
|
NM_001283009.2(RTEL1):c.2971_2972delinsAG (p.Gln991Arg)
|
|
|
NM_001283009.2(RTEL1):c.2973G>A (p.Gln991=)
|
rs748092893
|
|
NM_001283009.2(RTEL1):c.2973G>C (p.Gln991His)
|
|
|
NM_001283009.2(RTEL1):c.2974C>T (p.Pro992Ser)
|
|
|
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.2976G>C (p.Pro992=)
|
rs373347391
|
|
NM_001283009.2(RTEL1):c.2979C>T (p.Val993=)
|
rs116365288
|
|
NM_001283009.2(RTEL1):c.2980C>G (p.Leu994Val)
|
rs2145449535
|
|
NM_001283009.2(RTEL1):c.2981T>C (p.Leu994Pro)
|
rs1453207384
|
|
NM_001283009.2(RTEL1):c.2981T>G (p.Leu994Arg)
|
|
|
NM_001283009.2(RTEL1):c.2982G>A (p.Leu994=)
|
|
|
NM_001283009.2(RTEL1):c.2982G>C (p.Leu994=)
|
rs1187112291
|
|
NM_001283009.2(RTEL1):c.2983G>A (p.Asp995Asn)
|
rs202020298
|
|
NM_001283009.2(RTEL1):c.2983G>C (p.Asp995His)
|
|
|
NM_001283009.2(RTEL1):c.2983G>T (p.Asp995Tyr)
|
|
|
NM_001283009.2(RTEL1):c.2985C>A (p.Asp995Glu)
|
rs762474261
|
|
NM_001283009.2(RTEL1):c.2985C>G (p.Asp995Glu)
|
rs762474261
|
|
NM_001283009.2(RTEL1):c.2985C>T (p.Asp995=)
|
rs762474261
|
|
NM_001283009.2(RTEL1):c.2987C>G (p.Pro996Arg)
|
rs373210484
|
|
NM_001283009.2(RTEL1):c.2987C>T (p.Pro996Leu)
|
rs373210484
|
|
NM_001283009.2(RTEL1):c.2988C>A (p.Pro996=)
|
rs150932919
|
|
NM_001283009.2(RTEL1):c.2988C>G (p.Pro996=)
|
rs150932919
|
|
NM_001283009.2(RTEL1):c.2988del (p.Thr997fs)
|
|
|
NM_001283009.2(RTEL1):c.2989A>G (p.Thr997Ala)
|
|
|
NM_001283009.2(RTEL1):c.2990C>G (p.Thr997Ser)
|
rs1046295138
|
|
NM_001283009.2(RTEL1):c.2991T>C (p.Thr997=)
|
rs2145449639
|
|
NM_001283009.2(RTEL1):c.2992+10G>C
|
|
|
NM_001283009.2(RTEL1):c.2992+11C>A
|
|
|
NM_001283009.2(RTEL1):c.2992+12C>G
|
|
|
NM_001283009.2(RTEL1):c.2992+12C>T
|
rs780261597
|
|
NM_001283009.2(RTEL1):c.2992+13C>A
|
|
|
NM_001283009.2(RTEL1):c.2992+13C>G
|
rs200323578
|
|
NM_001283009.2(RTEL1):c.2992+13C>T
|
|
|
NM_001283009.2(RTEL1):c.2992+13_2992+14dup
|
|
|
NM_001283009.2(RTEL1):c.2992+14C>G
|
rs776911718
|
|
NM_001283009.2(RTEL1):c.2992+14C>T
|
rs776911718
|
|
NM_001283009.2(RTEL1):c.2992+16G>A
|
|
|
NM_001283009.2(RTEL1):c.2992+16G>C
|
|
|
NM_001283009.2(RTEL1):c.2992+17G>T
|
|
|
NM_001283009.2(RTEL1):c.2992+17del
|
rs2090812191
|
|
NM_001283009.2(RTEL1):c.2992+18T>A
|
rs773890709
|
|
NM_001283009.2(RTEL1):c.2992+19G>A
|
|
|
NM_001283009.2(RTEL1):c.2992+1G>A
|
rs1370553261
|
|
NM_001283009.2(RTEL1):c.2992+1G>C
|
|
|
NM_001283009.2(RTEL1):c.2992+20G>C
|
rs763328897
|
|
NM_001283009.2(RTEL1):c.2992+20G>T
|
|
|
NM_001283009.2(RTEL1):c.2992+2T>A
|
|
|
NM_001283009.2(RTEL1):c.2992+492_3068del
|
|
|
NM_001283009.2(RTEL1):c.2992+4A>C
|
|
|
NM_001283009.2(RTEL1):c.2992+6T>C
|
|
|
NM_001283009.2(RTEL1):c.2992+8G>A
|
rs1236751268
|
|
NM_001283009.2(RTEL1):c.2992+8G>C
|
|
|
NM_001283009.2(RTEL1):c.2992+9G>A
|
|
|
NM_001283009.2(RTEL1):c.2993-11C>G
|
|
|
NM_001283009.2(RTEL1):c.2993-11C>T
|
|
|
NM_001283009.2(RTEL1):c.2993-13A>G
|
|
|
NM_001283009.2(RTEL1):c.2993-14C>T
|
|
|
NM_001283009.2(RTEL1):c.2993-15A>G
|
|
|
NM_001283009.2(RTEL1):c.2993-17C>T
|
|
|
NM_001283009.2(RTEL1):c.2993-19C>T
|
|
|
NM_001283009.2(RTEL1):c.2993-3C>T
|
|
|
NM_001283009.2(RTEL1):c.2993-4T>G
|
|
|
NM_001283009.2(RTEL1):c.2993-5A>G
|
|
|
NM_001283009.2(RTEL1):c.2993-5A>T
|
|
|
NM_001283009.2(RTEL1):c.2993-6C>A
|
|
|
NM_001283009.2(RTEL1):c.2993-8_2993-6del
|
rs761735369
|
|
NM_001283009.2(RTEL1):c.2993-9C>G
|
rs1345171159
|
|
NM_001283009.2(RTEL1):c.2995A>G (p.Arg999Gly)
|
|
|
NM_001283009.2(RTEL1):c.2996G>A (p.Arg999Lys)
|
|
|
NM_001283009.2(RTEL1):c.3001G>A (p.Ala1001Thr)
|
|
|
NM_001283009.2(RTEL1):c.3005C>A (p.Pro1002Gln)
|
|
|
NM_001283009.2(RTEL1):c.3005C>G (p.Pro1002Arg)
|
rs767735975
|
|
NM_001283009.2(RTEL1):c.3005C>T (p.Pro1002Leu)
|
|
|
NM_001283009.2(RTEL1):c.3006G>A (p.Pro1002=)
|
rs201351158
|
|
NM_001283009.2(RTEL1):c.3006G>C (p.Pro1002=)
|
rs201351158
|
|
NM_001283009.2(RTEL1):c.3008A>C (p.Asp1003Ala)
|
rs2090912360
|
|
NM_001283009.2(RTEL1):c.301+13C>A
|
|
|
NM_001283009.2(RTEL1):c.301+13C>G
|
|
|
NM_001283009.2(RTEL1):c.301+13C>T
|
|
|
NM_001283009.2(RTEL1):c.301+14C>T
|
|
|
NM_001283009.2(RTEL1):c.301+1G>A
|
rs2146149228
|
|
NM_001283009.2(RTEL1):c.301+1G>C
|
|
|
NM_001283009.2(RTEL1):c.301+20C>T
|
rs1433016279
|
|
NM_001283009.2(RTEL1):c.301+3G>A
|
|
|
NM_001283009.2(RTEL1):c.301+5C>T
|
|
|
NM_001283009.2(RTEL1):c.301+7del
|
|
|
NM_001283009.2(RTEL1):c.301+8T>G
|
|
|
NM_001283009.2(RTEL1):c.301+9A>C
|
|
|
NM_001283009.2(RTEL1):c.3010C>G (p.Pro1004Ala)
|
|
|
NM_001283009.2(RTEL1):c.3014A>G (p.Lys1005Arg)
|
|
|
NM_001283009.2(RTEL1):c.3014A>T (p.Lys1005Met)
|
|
|
NM_001283009.2(RTEL1):c.3015G>A (p.Lys1005=)
|
rs1278233275
|
|
NM_001283009.2(RTEL1):c.3018G>A (p.Leu1006=)
|
|
|
NM_001283009.2(RTEL1):c.302-10G>A
|
rs1192142043
|
|
NM_001283009.2(RTEL1):c.302-15_302-12del
|
|
|
NM_001283009.2(RTEL1):c.302-19C>A
|
|
|
NM_001283009.2(RTEL1):c.302-20G>C
|
|
|
NM_001283009.2(RTEL1):c.302-6G>C
|
|
|
NM_001283009.2(RTEL1):c.302-8C>T
|
|
|
NM_001283009.2(RTEL1):c.302-8_303del
|
rs2090026700
|
|
NM_001283009.2(RTEL1):c.3020C>T (p.Thr1007Ile)
|
rs776712596
|
|
NM_001283009.2(RTEL1):c.3021C>G (p.Thr1007=)
|
|
|
NM_001283009.2(RTEL1):c.3022G>C (p.Val1008Leu)
|
|
|
NM_001283009.2(RTEL1):c.3023T>G (p.Val1008Gly)
|
|
|
NM_001283009.2(RTEL1):c.3024G>C (p.Val1008=)
|
rs2090912920
|
|
NM_001283009.2(RTEL1):c.3024G>T (p.Val1008=)
|
|
|
NM_001283009.2(RTEL1):c.3027C>T (p.Ser1009=)
|
rs2145470954
|
|
NM_001283009.2(RTEL1):c.3028A>C (p.Thr1010Pro)
|
rs2145470968
|
|
NM_001283009.2(RTEL1):c.3029C>T (p.Thr1010Met)
|
rs750539539
|
|
NM_001283009.2(RTEL1):c.3031G>A (p.Ala1011Thr)
|
|
|
NM_001283009.2(RTEL1):c.3033T>C (p.Ala1011=)
|
rs574653429
|
|
NM_001283009.2(RTEL1):c.3033T>G (p.Ala1011=)
|
|
|
NM_001283009.2(RTEL1):c.3034G>T (p.Ala1012Ser)
|
|
|
NM_001283009.2(RTEL1):c.3035C>A (p.Ala1012Glu)
|
|
|
NM_001283009.2(RTEL1):c.3039C>G (p.Ala1013=)
|
|
|
NM_001283009.2(RTEL1):c.303T>C (p.Ala101=)
|
rs2146150593
|
|
NM_001283009.2(RTEL1):c.3042G>A (p.Gln1014=)
|
rs1601194512
|
|
NM_001283009.2(RTEL1):c.3043C>T (p.Gln1015Ter)
|
rs777109448
|
|
NM_001283009.2(RTEL1):c.3044A>G (p.Gln1015Arg)
|
|
|
NM_001283009.2(RTEL1):c.3045G>A (p.Gln1015=)
|
|
|
NM_001283009.2(RTEL1):c.3045G>C (p.Gln1015His)
|
rs2145471144
|
|
NM_001283009.2(RTEL1):c.3046C>T (p.Leu1016=)
|
rs1601194528
|
|
NM_001283009.2(RTEL1):c.3049G>C (p.Asp1017His)
|
rs61736617
|
|
NM_001283009.2(RTEL1):c.3049G>T (p.Asp1017Tyr)
|
|
|
NM_001283009.2(RTEL1):c.304T>C (p.Cys102Arg)
|
|
|
NM_001283009.2(RTEL1):c.3053_3070dup (p.Asn1023_Gln1024insProGlnGluHisLeuAsn)
|
|
|
NM_001283009.2(RTEL1):c.3055C>G (p.Gln1019Glu)
|
rs1435090971
|
|
NM_001283009.2(RTEL1):c.3057A>G (p.Gln1019=)
|
|
|
NM_001283009.2(RTEL1):c.3058G>C (p.Glu1020Gln)
|
|
|
NM_001283009.2(RTEL1):c.3058G>T (p.Glu1020Ter)
|
rs771746222
|
|
NM_001283009.2(RTEL1):c.3059A>G (p.Glu1020Gly)
|
rs2090914407
|
|
NM_001283009.2(RTEL1):c.3060G>A (p.Glu1020=)
|
|
|
NM_001283009.2(RTEL1):c.3060G>C (p.Glu1020Asp)
|
|
|
NM_001283009.2(RTEL1):c.3062A>T (p.His1021Leu)
|
rs1345368614
|
|
NM_001283009.2(RTEL1):c.3063C>T (p.His1021=)
|
|
|
NM_001283009.2(RTEL1):c.3066G>A (p.Leu1022=)
|
rs2145471357
|
|
NM_001283009.2(RTEL1):c.3069C>G (p.Asn1023Lys)
|
rs773448494
|
|
NM_001283009.2(RTEL1):c.3069C>T (p.Asn1023=)
|
|
|
NM_001283009.2(RTEL1):c.306C>T (p.Cys102=)
|
|
|
NM_001283009.2(RTEL1):c.3074G>A (p.Gly1025Asp)
|
|
|
NM_001283009.2(RTEL1):c.3074_3096del (p.Gly1025fs)
|
rs2145471381
|
|
NM_001283009.2(RTEL1):c.3075C>A (p.Gly1025=)
|
|
|
NM_001283009.2(RTEL1):c.3077G>T (p.Arg1026Met)
|
rs1448735633
|
|
NM_001283009.2(RTEL1):c.3078G>A (p.Arg1026=)
|
|
|
NM_001283009.2(RTEL1):c.3079C>T (p.Pro1027Ser)
|
rs2090915113
|
|
NM_001283009.2(RTEL1):c.307T>C (p.Tyr103His)
|
|
|
NM_001283009.2(RTEL1):c.3081C>T (p.Pro1027=)
|
rs1601194720
|
|
NM_001283009.2(RTEL1):c.3083A>C (p.His1028Pro)
|
|
|
NM_001283009.2(RTEL1):c.3085C>G (p.Leu1029Val)
|
|
|
NM_001283009.2(RTEL1):c.3085C>T (p.Leu1029=)
|
|
|
NM_001283009.2(RTEL1):c.3087G>T (p.Leu1029=)
|
|
|
NM_001283009.2(RTEL1):c.3089C>G (p.Ser1030Trp)
|
rs756579704
|
|
NM_001283009.2(RTEL1):c.3090G>T (p.Ser1030=)
|
|
|
NM_001283009.2(RTEL1):c.3091C>T (p.Pro1031Ser)
|
rs912272913
|
|
NM_001283009.2(RTEL1):c.3092C>T (p.Pro1031Leu)
|
|
|
NM_001283009.2(RTEL1):c.3093C>T (p.Pro1031=)
|
rs756822666
|
|
NM_001283009.2(RTEL1):c.3096G>A (p.Arg1032=)
|
rs1340574679
|
|
NM_001283009.2(RTEL1):c.3096G>T (p.Arg1032Ser)
|
|
|
NM_001283009.2(RTEL1):c.3096del (p.Arg1032fs)
|
|
|
NM_001283009.2(RTEL1):c.309C>T (p.Tyr103=)
|
rs2146150632
|
|
NM_001283009.2(RTEL1):c.3100C>T (p.Pro1034Ser)
|
|
|
NM_001283009.2(RTEL1):c.3104C>G (p.Pro1035Arg)
|
|
|
NM_001283009.2(RTEL1):c.3109+11C>G
|
|
|
NM_001283009.2(RTEL1):c.3109+14G>T
|
|
|
NM_001283009.2(RTEL1):c.3109+18C>T
|
|
|
NM_001283009.2(RTEL1):c.3109+19G>C
|
|
|
NM_001283009.2(RTEL1):c.3109+1G>T
|
|
|
NM_001283009.2(RTEL1):c.3109+2T>C
|
|
|
NM_001283009.2(RTEL1):c.3109+2T>G
|
|
|
NM_001283009.2(RTEL1):c.3109+5C>G
|
|
|
NM_001283009.2(RTEL1):c.3109+7G>A
|
|
|
NM_001283009.2(RTEL1):c.3109+7G>T
|
|
|
NM_001283009.2(RTEL1):c.3109+9C>G
|
|
|
NM_001283009.2(RTEL1):c.310_311dup (p.Asp105fs)
|
|
|
NM_001283009.2(RTEL1):c.3110-10C>G
|
rs2090927100
|
|
NM_001283009.2(RTEL1):c.3110-13A>G
|
|
|
NM_001283009.2(RTEL1):c.3110-15C>T
|
|
|
NM_001283009.2(RTEL1):c.3110-16G>C
|
|
|
NM_001283009.2(RTEL1):c.3110-18A>G
|
|
|
NM_001283009.2(RTEL1):c.3110-1G>A
|
|
|
NM_001283009.2(RTEL1):c.3110-2A>C
|
rs377461417
|
|
NM_001283009.2(RTEL1):c.3110-4C>T
|
rs1417877726
|
|
NM_001283009.2(RTEL1):c.3110-6C>A
|
|
|
NM_001283009.2(RTEL1):c.3110-8C>A
|
|
|
NM_001283009.2(RTEL1):c.3110-9C>G
|
|
|
NM_001283009.2(RTEL1):c.3110-9C>T
|
rs780938637
|
|
NM_001283009.2(RTEL1):c.3110G>A (p.Gly1037Glu)
|
|
|
NM_001283009.2(RTEL1):c.3114C>A (p.Asp1038Glu)
|
rs746139882
|
|
NM_001283009.2(RTEL1):c.3114C>T (p.Asp1038=)
|
rs746139882
|
|
NM_001283009.2(RTEL1):c.3116C>G (p.Pro1039Arg)
|
|
|
NM_001283009.2(RTEL1):c.3118G>T (p.Gly1040Cys)
|
|
|
NM_001283009.2(RTEL1):c.3119G>T (p.Gly1040Val)
|
|
|
NM_001283009.2(RTEL1):c.311C>A (p.Thr104Lys)
|
rs367809459
|
|
NM_001283009.2(RTEL1):c.311C>T (p.Thr104Met)
|
rs367809459
|
|
NM_001283009.2(RTEL1):c.3120C>A (p.Gly1040=)
|
|
|
NM_001283009.2(RTEL1):c.3123C>T (p.Ser1041=)
|
|
|
NM_001283009.2(RTEL1):c.3124C>T (p.Gln1042Ter)
|
rs929898540
|
|
NM_001283009.2(RTEL1):c.3129A>C (p.Pro1043=)
|
rs199578945
|
|
NM_001283009.2(RTEL1):c.3129A>T (p.Pro1043=)
|
|
|
NM_001283009.2(RTEL1):c.312G>A (p.Thr104=)
|
rs1348086708
|
|
NM_001283009.2(RTEL1):c.3131A>G (p.Gln1044Arg)
|
rs1350870028
|
|
NM_001283009.2(RTEL1):c.3136_3138del (p.Gly1046del)
|
rs1555814207
|
|
NM_001283009.2(RTEL1):c.3138G>T (p.Gly1046=)
|
|
|
NM_001283009.2(RTEL1):c.3138del (p.Ser1047fs)
|
rs1555814207
|
|
NM_001283009.2(RTEL1):c.3143G>A (p.Gly1048Glu)
|
|
|
NM_001283009.2(RTEL1):c.3147G>C (p.Val1049=)
|
rs2145474591
|
|
NM_001283009.2(RTEL1):c.3149C>G (p.Pro1050Arg)
|
|
|
NM_001283009.2(RTEL1):c.3150C>T (p.Pro1050=)
|
rs2145474615
|
|
NM_001283009.2(RTEL1):c.3155C>G (p.Ala1052Gly)
|
rs1479396091
|
|
NM_001283009.2(RTEL1):c.3156A>C (p.Ala1052=)
|
rs2145474659
|
|
NM_001283009.2(RTEL1):c.315C>T (p.Asp105=)
|
|
|
NM_001283009.2(RTEL1):c.3165G>A (p.Gln1055=)
|
|
|
NM_001283009.2(RTEL1):c.3168C>A (p.Gly1056=)
|
rs2145474688
|
|
NM_001283009.2(RTEL1):c.3168C>T (p.Gly1056=)
|
|
|
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter)
|
rs2090929102
|
|
NM_001283009.2(RTEL1):c.316A>T (p.Ile106Phe)
|
rs2090027158
|
|
NM_001283009.2(RTEL1):c.3171G>A (p.Gln1057=)
|
rs2145474713
|
|
NM_001283009.2(RTEL1):c.3171G>T (p.Gln1057His)
|
|
|
NM_001283009.2(RTEL1):c.3177C>A (p.Ala1059=)
|
rs539800902
|
|
NM_001283009.2(RTEL1):c.3178G>T (p.Val1060Leu)
|
|
|
NM_001283009.2(RTEL1):c.3180G>A (p.Val1060=)
|
|
|
NM_001283009.2(RTEL1):c.3182G>A (p.Ser1061Asn)
|
rs1167219600
|
|
NM_001283009.2(RTEL1):c.3185C>T (p.Ala1062Val)
|
|
|
NM_001283009.2(RTEL1):c.3186C>G (p.Ala1062=)
|
|
|
NM_001283009.2(RTEL1):c.3186C>T (p.Ala1062=)
|
|
|
NM_001283009.2(RTEL1):c.3190C>T (p.Leu1064=)
|
rs373448481
|
|
NM_001283009.2(RTEL1):c.3192G>A (p.Leu1064=)
|
rs1411385727
|
|
NM_001283009.2(RTEL1):c.31G>A (p.Val11Ile)
|
|
|
NM_001283009.2(RTEL1):c.3204C>T (p.Arg1068=)
|
rs774018252
|
|
NM_001283009.2(RTEL1):c.3210C>A (p.Ala1070=)
|
|
|
NM_001283009.2(RTEL1):c.3210C>T (p.Ala1070=)
|
|
|
NM_001283009.2(RTEL1):c.3212T>C (p.Leu1071Pro)
|
|
|
NM_001283009.2(RTEL1):c.3213G>C (p.Leu1071=)
|
rs1209413497
|
|
NM_001283009.2(RTEL1):c.3213G>T (p.Leu1071=)
|
|
|
NM_001283009.2(RTEL1):c.3216G>T (p.Gly1072=)
|
|
|
NM_001283009.2(RTEL1):c.3217T>G (p.Ser1073Ala)
|
|
|
NM_001283009.2(RTEL1):c.321A>G (p.Pro107=)
|
|
|
NM_001283009.2(RTEL1):c.3223G>T (p.Gly1075Cys)
|
rs1431515751
|
|
NM_001283009.2(RTEL1):c.3225C>G (p.Gly1075=)
|
rs1601196691
|
|
NM_001283009.2(RTEL1):c.3225C>T (p.Gly1075=)
|
|
|
NM_001283009.2(RTEL1):c.3231C>T (p.Ser1077=)
|
|
|
NM_001283009.2(RTEL1):c.3232C>T (p.Gln1078Ter)
|
|
|
NM_001283009.2(RTEL1):c.3234A>G (p.Gln1078=)
|
rs2145475264
|
|
NM_001283009.2(RTEL1):c.3235C>G (p.Leu1079Val)
|
|
|
NM_001283009.2(RTEL1):c.3237C>G (p.Leu1079=)
|
|
|
NM_001283009.2(RTEL1):c.3238T>C (p.Leu1080=)
|
rs2145475291
|
|
NM_001283009.2(RTEL1):c.3238T>G (p.Leu1080Val)
|
|
|
NM_001283009.2(RTEL1):c.3245C>T (p.Ala1082Val)
|
|
|
NM_001283009.2(RTEL1):c.3246G>C (p.Ala1082=)
|
|
|
NM_001283009.2(RTEL1):c.3247C>T (p.Leu1083=)
|
|
|
NM_001283009.2(RTEL1):c.3252A>G (p.Thr1084=)
|
rs1212700862
|
|
NM_001283009.2(RTEL1):c.3253G>T (p.Ala1085Ser)
|
|
|
NM_001283009.2(RTEL1):c.3255C>G (p.Ala1085=)
|
rs376458024
|
|
NM_001283009.2(RTEL1):c.3255C>T (p.Ala1085=)
|
|
|
NM_001283009.2(RTEL1):c.3257A>G (p.Tyr1086Cys)
|
|
|
NM_001283009.2(RTEL1):c.3258T>C (p.Tyr1086=)
|
|
|
NM_001283009.2(RTEL1):c.3259A>G (p.Lys1087Glu)
|
|
|
NM_001283009.2(RTEL1):c.3259A>T (p.Lys1087Ter)
|
|
|
NM_001283009.2(RTEL1):c.3261G>T (p.Lys1087Asn)
|
|
|
NM_001283009.2(RTEL1):c.3262C>G (p.Gln1088Glu)
|
rs918462634
|
|
NM_001283009.2(RTEL1):c.3262C>T (p.Gln1088Ter)
|
|
|
NM_001283009.2(RTEL1):c.3264A>G (p.Gln1088=)
|
rs2145475545
|
|
NM_001283009.2(RTEL1):c.3265GAC[2] (p.Asp1091del)
|
rs1568724567
|
|
NM_001283009.2(RTEL1):c.3271G>A (p.Asp1091Asn)
|
|
|
NM_001283009.2(RTEL1):c.3274C>T (p.Leu1092Phe)
|
|
|
NM_001283009.2(RTEL1):c.3275T>C (p.Leu1092Pro)
|
|
|
NM_001283009.2(RTEL1):c.3276C>A (p.Leu1092=)
|
rs143869851
|
|
NM_001283009.2(RTEL1):c.3277G>C (p.Asp1093His)
|
|
|
NM_001283009.2(RTEL1):c.3279C>G (p.Asp1093Glu)
|
|
|
NM_001283009.2(RTEL1):c.3279C>T (p.Asp1093=)
|
rs756242989
|
|
NM_001283009.2(RTEL1):c.3282G>A (p.Lys1094=)
|
rs778086975
|
|
NM_001283009.2(RTEL1):c.3282G>T (p.Lys1094Asn)
|
rs778086975
|
|
NM_001283009.2(RTEL1):c.3286C>G (p.Leu1096Val)
|
|
|
NM_001283009.2(RTEL1):c.3286C>T (p.Leu1096=)
|
rs547956753
|
|
NM_001283009.2(RTEL1):c.3288G>C (p.Leu1096=)
|
rs2090933337
|
|
NM_001283009.2(RTEL1):c.3289del (p.Ala1097fs)
|
rs2090933372
|
|
NM_001283009.2(RTEL1):c.3291_3299del (p.1095VLA[1])
|
|
|
NM_001283009.2(RTEL1):c.3292G>A (p.Val1098Met)
|
|
|
NM_001283009.2(RTEL1):c.3292G>C (p.Val1098Leu)
|
|
|
NM_001283009.2(RTEL1):c.3293T>C (p.Val1098Ala)
|
|
|
NM_001283009.2(RTEL1):c.3295T>C (p.Leu1099=)
|
rs771667984
|
|
NM_001283009.2(RTEL1):c.3296T>G (p.Leu1099Trp)
|
rs199998697
|
|
NM_001283009.2(RTEL1):c.329_332del (p.Ile110fs)
|
rs2146150691
|
|
NM_001283009.2(RTEL1):c.3303C>G (p.Ala1101=)
|
rs776426684
|
|
NM_001283009.2(RTEL1):c.3303C>T (p.Ala1101=)
|
|
|
NM_001283009.2(RTEL1):c.3304C>G (p.Leu1102Val)
|
|
|
NM_001283009.2(RTEL1):c.3304C>T (p.Leu1102=)
|
|
|
NM_001283009.2(RTEL1):c.3306G>A (p.Leu1102=)
|
|
|
NM_001283009.2(RTEL1):c.3308C>G (p.Thr1103Ser)
|
|
|
NM_001283009.2(RTEL1):c.3309C>A (p.Thr1103=)
|
|
|
NM_001283009.2(RTEL1):c.3309C>G (p.Thr1103=)
|
rs773182758
|
|
NM_001283009.2(RTEL1):c.3309C>T (p.Thr1103=)
|
rs773182758
|
|
NM_001283009.2(RTEL1):c.3311C>G (p.Thr1104Ser)
|
|
|
NM_001283009.2(RTEL1):c.3313G>A (p.Ala1105Thr)
|
rs752980702
|
|
NM_001283009.2(RTEL1):c.3314C>A (p.Ala1105Glu)
|
|
|
NM_001283009.2(RTEL1):c.3314C>G (p.Ala1105Gly)
|
rs1193975279
|
|
NM_001283009.2(RTEL1):c.3315A>G (p.Ala1105=)
|
rs1601197253
|
|
NM_001283009.2(RTEL1):c.3320C>G (p.Pro1107Arg)
|
rs115264605
|
|
NM_001283009.2(RTEL1):c.3320C>T (p.Pro1107Leu)
|
|
|
NM_001283009.2(RTEL1):c.3322G>A (p.Glu1108Lys)
|
rs945952564
|
|
NM_001283009.2(RTEL1):c.3324G>A (p.Glu1108=)
|
rs1229398693
|
|
NM_001283009.2(RTEL1):c.3326A>C (p.Asp1109Ala)
|
|
|
NM_001283009.2(RTEL1):c.3327C>T (p.Asp1109=)
|
|
|
NM_001283009.2(RTEL1):c.3328T>G (p.Phe1110Val)
|
rs754275053
|
|
NM_001283009.2(RTEL1):c.3329T>C (p.Phe1110Ser)
|
rs148621466
|
|
NM_001283009.2(RTEL1):c.3330C>T (p.Phe1110=)
|
rs779425045
|
|
NM_001283009.2(RTEL1):c.3331C>T (p.Pro1111Ser)
|
|
|
NM_001283009.2(RTEL1):c.3333C>G (p.Pro1111=)
|
|
|
NM_001283009.2(RTEL1):c.3334C>T (p.Leu1112=)
|
rs758775121
|
|
NM_001283009.2(RTEL1):c.3334del (p.Leu1112fs)
|
rs1555814334
|
|
NM_001283009.2(RTEL1):c.3337C>T (p.Leu1113=)
|
rs2145476254
|
|
NM_001283009.2(RTEL1):c.3339G>C (p.Leu1113=)
|
|
|
NM_001283009.2(RTEL1):c.3342C>A (p.His1114Gln)
|
|
|
NM_001283009.2(RTEL1):c.3343+10C>T
|
rs2145476386
|
|
NM_001283009.2(RTEL1):c.3343+11C>G
|
|
|
NM_001283009.2(RTEL1):c.3343+11C>T
|
|
|
NM_001283009.2(RTEL1):c.3343+13G>A
|
|
|
NM_001283009.2(RTEL1):c.3343+14G>A
|
|
|
NM_001283009.2(RTEL1):c.3343+15C>T
|
|
|
NM_001283009.2(RTEL1):c.3343+18G>A
|
|
|
NM_001283009.2(RTEL1):c.3343+1G>C
|
rs2145476311
|
|
NM_001283009.2(RTEL1):c.3343+1G>T
|
rs2145476311
|
|
NM_001283009.2(RTEL1):c.3343+7G>A
|
rs2145476335
|
|
NM_001283009.2(RTEL1):c.3343+8G>A
|
rs768036242
|
|
NM_001283009.2(RTEL1):c.3343+9C>T
|
rs776254998
|
|
NM_001283009.2(RTEL1):c.3343A>G (p.Arg1115Gly)
|
|
|
NM_001283009.2(RTEL1):c.3344-10C>T
|
rs1173562610
|
|
NM_001283009.2(RTEL1):c.3344-11G>A
|
|
|
NM_001283009.2(RTEL1):c.3344-12A>C
|
|
|
NM_001283009.2(RTEL1):c.3344-13A>T
|
|
|
NM_001283009.2(RTEL1):c.3344-14G>A
|
rs2145477193
|
|
NM_001283009.2(RTEL1):c.3344-20C>G
|
|
|
NM_001283009.2(RTEL1):c.3344-5del
|
rs2145477238
|
|
NM_001283009.2(RTEL1):c.3344-6C>T
|
|
|
NM_001283009.2(RTEL1):c.3344-8C>G
|
|
|
NM_001283009.2(RTEL1):c.3344-8C>T
|
|
|
NM_001283009.2(RTEL1):c.3344G>A (p.Arg1115Lys)
|
|
|
NM_001283009.2(RTEL1):c.3349A>G (p.Ser1117Gly)
|
|
|
NM_001283009.2(RTEL1):c.3352A>G (p.Met1118Val)
|
rs2090940417
|
|
NM_001283009.2(RTEL1):c.3358G>A (p.Val1120Met)
|
rs1232203927
|
|
NM_001283009.2(RTEL1):c.3358G>C (p.Val1120Leu)
|
|
|
NM_001283009.2(RTEL1):c.335C>T (p.Ala112Val)
|
|
|
NM_001283009.2(RTEL1):c.3360G>A (p.Val1120=)
|
|
|
NM_001283009.2(RTEL1):c.3364C>G (p.Pro1122Ala)
|
|
|
NM_001283009.2(RTEL1):c.3364C>T (p.Pro1122Ser)
|
|
|
NM_001283009.2(RTEL1):c.3365C>T (p.Pro1122Leu)
|
|
|
NM_001283009.2(RTEL1):c.3369C>G (p.His1123Gln)
|
|
|
NM_001283009.2(RTEL1):c.3369C>T (p.His1123=)
|
rs2145477387
|
|
NM_001283009.2(RTEL1):c.3371A>C (p.His1124Pro)
|
rs786205702
|
|
NM_001283009.2(RTEL1):c.3372C>G (p.His1124Gln)
|
|
|
NM_001283009.2(RTEL1):c.3372C>T (p.His1124=)
|
rs2145477414
|
|
NM_001283009.2(RTEL1):c.3374A>G (p.Lys1125Arg)
|
|
|
NM_001283009.2(RTEL1):c.3375G>A (p.Lys1125=)
|
rs1464913958
|
|
NM_001283009.2(RTEL1):c.3376C>G (p.Gln1126Glu)
|
rs778734749
|
|
NM_001283009.2(RTEL1):c.3377A>T (p.Gln1126Leu)
|
|
|
NM_001283009.2(RTEL1):c.3378G>C (p.Gln1126His)
|
|
|
NM_001283009.2(RTEL1):c.3379C>A (p.Arg1127Ser)
|
rs745614952
|
|
NM_001283009.2(RTEL1):c.3379C>G (p.Arg1127Gly)
|
|
|
NM_001283009.2(RTEL1):c.3381C>T (p.Arg1127=)
|
rs368588082
|
|
NM_001283009.2(RTEL1):c.3382T>C (p.Phe1128Leu)
|
rs2090941270
|
|
NM_001283009.2(RTEL1):c.3384C>T (p.Phe1128=)
|
rs1431888088
|
|
NM_001283009.2(RTEL1):c.3389dup (p.Thr1131fs)
|
rs2145477500
|
|
NM_001283009.2(RTEL1):c.3390G>A (p.Gln1130=)
|
|
|
NM_001283009.2(RTEL1):c.3392C>A (p.Thr1131Lys)
|
|
|
NM_001283009.2(RTEL1):c.3392C>G (p.Thr1131Arg)
|
rs372852392
|
|
NM_001283009.2(RTEL1):c.3394T>C (p.Cys1132Arg)
|
rs2145477538
|
|
NM_001283009.2(RTEL1):c.3398C>G (p.Thr1133Arg)
|
|
|
NM_001283009.2(RTEL1):c.3399A>C (p.Thr1133=)
|
rs2145477587
|
|
NM_001283009.2(RTEL1):c.3399A>G (p.Thr1133=)
|
|
|
NM_001283009.2(RTEL1):c.3405G>A (p.Leu1135=)
|
rs1390155418
|
|
NM_001283009.2(RTEL1):c.3408C>A (p.Thr1136=)
|
rs752386852
|
|
NM_001283009.2(RTEL1):c.3408C>G (p.Thr1136=)
|
rs752386852
|
|
NM_001283009.2(RTEL1):c.3411C>A (p.Gly1137=)
|
|
|
NM_001283009.2(RTEL1):c.3411C>T (p.Gly1137=)
|
|
|
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.3413G>A (p.Arg1138Gln)
|
|
|
NM_001283009.2(RTEL1):c.3413G>C (p.Arg1138Pro)
|
|
|
NM_001283009.2(RTEL1):c.3413G>T (p.Arg1138Leu)
|
rs756727783
|
|
NM_001283009.2(RTEL1):c.3414G>T (p.Arg1138=)
|
rs1217551424
|
|
NM_001283009.2(RTEL1):c.3416C>T (p.Pro1139Leu)
|
|
|
NM_001283009.2(RTEL1):c.3419A>G (p.Tyr1140Cys)
|
rs200622914
|
|
NM_001283009.2(RTEL1):c.3425G>T (p.Gly1142Val)
|
|
|
NM_001283009.2(RTEL1):c.3426C>T (p.Gly1142=)
|
|
|
NM_001283009.2(RTEL1):c.342G>A (p.Arg114=)
|
rs2146150765
|
|
NM_001283009.2(RTEL1):c.3433C>T (p.Pro1145Ser)
|
|
|
NM_001283009.2(RTEL1):c.3437C>G (p.Pro1146Arg)
|
rs749331637
|
|
NM_001283009.2(RTEL1):c.3440G>A (p.Gly1147Glu)
|
|
|
NM_001283009.2(RTEL1):c.3441A>T (p.Gly1147=)
|
rs2145477908
|
|
NM_001283009.2(RTEL1):c.3443C>A (p.Pro1148His)
|
rs116773320
|
|
NM_001283009.2(RTEL1):c.3443C>G (p.Pro1148Arg)
|
|
|
NM_001283009.2(RTEL1):c.3446A>C (p.Gln1149Pro)
|
|
|
NM_001283009.2(RTEL1):c.3446A>G (p.Gln1149Arg)
|
|
|
NM_001283009.2(RTEL1):c.3447G>A (p.Gln1149=)
|
|
|
NM_001283009.2(RTEL1):c.3448G>A (p.Glu1150Lys)
|
|
|
NM_001283009.2(RTEL1):c.3448GAG[1] (p.Glu1151del)
|
rs777014655
|
|
NM_001283009.2(RTEL1):c.3450G>A (p.Glu1150=)
|
rs2145477956
|
|
NM_001283009.2(RTEL1):c.3453G>A (p.Glu1151=)
|
|
|
NM_001283009.2(RTEL1):c.3455G>A (p.Arg1152Lys)
|
|
|
NM_001283009.2(RTEL1):c.3456G>A (p.Arg1152=)
|
rs753433733
|
|
NM_001283009.2(RTEL1):c.3456G>T (p.Arg1152Ser)
|
|
|
NM_001283009.2(RTEL1):c.3459T>G (p.Leu1153=)
|
rs2145478009
|
|
NM_001283009.2(RTEL1):c.345C>T (p.Thr115=)
|
|
|
NM_001283009.2(RTEL1):c.3460G>C (p.Ala1154Pro)
|
|
|
NM_001283009.2(RTEL1):c.3461C>T (p.Ala1154Val)
|
|
|
NM_001283009.2(RTEL1):c.3463G>T (p.Val1155Leu)
|
|
|
NM_001283009.2(RTEL1):c.3470C>A (p.Pro1157His)
|
|
|
NM_001283009.2(RTEL1):c.3472G>A (p.Val1158Met)
|
|
|
NM_001283009.2(RTEL1):c.3480C>T (p.Thr1160=)
|
|
|
NM_001283009.2(RTEL1):c.3484A>C (p.Arg1162=)
|
|
|
NM_001283009.2(RTEL1):c.3487G>A (p.Ala1163Thr)
|
|
|
NM_001283009.2(RTEL1):c.3488C>T (p.Ala1163Val)
|
|
|
NM_001283009.2(RTEL1):c.3489T>C (p.Ala1163=)
|
|
|
NM_001283009.2(RTEL1):c.3490C>G (p.Pro1164Ala)
|
|
|
NM_001283009.2(RTEL1):c.3491C>T (p.Pro1164Leu)
|
|
|
NM_001283009.2(RTEL1):c.3492C>G (p.Pro1164=)
|
|
|
NM_001283009.2(RTEL1):c.3495A>G (p.Gln1165=)
|
|
|
NM_001283009.2(RTEL1):c.3499+10C>A
|
rs2090945719
|
|
NM_001283009.2(RTEL1):c.3499+12G>A
|
|
|
NM_001283009.2(RTEL1):c.3499+12G>T
|
|
|
NM_001283009.2(RTEL1):c.3499+14C>T
|
|
|
NM_001283009.2(RTEL1):c.3499+16G>A
|
|
|
NM_001283009.2(RTEL1):c.3499+17G>A
|
|
|
NM_001283009.2(RTEL1):c.3499+17G>T
|
|
|
NM_001283009.2(RTEL1):c.3499+18C>A
|
|
|
NM_001283009.2(RTEL1):c.3499+18C>T
|
|
|
NM_001283009.2(RTEL1):c.3499+1G>A
|
|
|
NM_001283009.2(RTEL1):c.3499+20G>C
|
|
|
NM_001283009.2(RTEL1):c.3499+2T>C
|
|
|
NM_001283009.2(RTEL1):c.3499+5_3499+6delinsTA
|
rs2090945455
|
|
NM_001283009.2(RTEL1):c.3499+5_3499+6delinsTC
|
|
|
NM_001283009.2(RTEL1):c.3499+6G>C
|
|
|
NM_001283009.2(RTEL1):c.3499+7C>G
|
rs1228292168
|
|
NM_001283009.2(RTEL1):c.3499+9C>A
|
|
|
NM_001283009.2(RTEL1):c.3499+9C>G
|
|
|
NM_001283009.2(RTEL1):c.3500-10C>G
|
|
|
NM_001283009.2(RTEL1):c.3500-10_3500-9del
|
|
|
NM_001283009.2(RTEL1):c.3500-12C>G
|
|
|
NM_001283009.2(RTEL1):c.3500-12C>T
|
rs747484884
|
|
NM_001283009.2(RTEL1):c.3500-19C>T
|
|
|
NM_001283009.2(RTEL1):c.3500-1G>A
|
rs1205986855
|
|
NM_001283009.2(RTEL1):c.3500-3C>T
|
|
|
NM_001283009.2(RTEL1):c.3500-4C>A
|
|
|
NM_001283009.2(RTEL1):c.3500-4C>G
|
|
|
NM_001283009.2(RTEL1):c.3500-6C>T
|
rs781733108
|
|
NM_001283009.2(RTEL1):c.3500-8G>C
|
|
|
NM_001283009.2(RTEL1):c.3500-9del
|
|
|
NM_001283009.2(RTEL1):c.3502C>T (p.Pro1168Ser)
|
|
|
NM_001283009.2(RTEL1):c.3506C>T (p.Ser1169Leu)
|
|
|
NM_001283009.2(RTEL1):c.3507A>G (p.Ser1169=)
|
rs2145479135
|
|
NM_001283009.2(RTEL1):c.3509G>T (p.Arg1170Leu)
|
|
|
NM_001283009.2(RTEL1):c.3513C>G (p.Ser1171=)
|
rs138738109
|
|
NM_001283009.2(RTEL1):c.3514G>A (p.Glu1172Lys)
|
|
|
NM_001283009.2(RTEL1):c.3514G>T (p.Glu1172Ter)
|
|
|
NM_001283009.2(RTEL1):c.3515A>C (p.Glu1172Ala)
|
rs2145479213
|
|
NM_001283009.2(RTEL1):c.3515_3523del (p.Glu1172_Thr1174del)
|
rs1258943409
|
|
NM_001283009.2(RTEL1):c.3516G>A (p.Glu1172=)
|
rs2145479225
|
|
NM_001283009.2(RTEL1):c.3519G>C (p.Lys1173Asn)
|
|
|
NM_001283009.2(RTEL1):c.351G>A (p.Ser117=)
|
rs1290133533
|
|
NM_001283009.2(RTEL1):c.3522C>G (p.Thr1174=)
|
rs200086502
|
|
NM_001283009.2(RTEL1):c.3523_3531dup (p.Gly1175_Thr1177dup)
|
rs2090951149
|
|
NM_001283009.2(RTEL1):c.3525G>A (p.Gly1175=)
|
|
|
NM_001283009.2(RTEL1):c.3525del (p.Lys1176fs)
|
|
|
NM_001283009.2(RTEL1):c.3528G>A (p.Lys1176=)
|
rs367598119
|
|
NM_001283009.2(RTEL1):c.3528G>C (p.Lys1176Asn)
|
rs367598119
|
|
NM_001283009.2(RTEL1):c.3531C>T (p.Thr1177=)
|
rs2090951654
|
|
NM_001283009.2(RTEL1):c.3534G>C (p.Gln1178His)
|
rs781484810
|
|
NM_001283009.2(RTEL1):c.3543C>T (p.Ile1181=)
|
rs748910434
|
|
NM_001283009.2(RTEL1):c.3545C>T (p.Ser1182Leu)
|
|
|
NM_001283009.2(RTEL1):c.3546G>C (p.Ser1182=)
|
rs774018403
|
|
NM_001283009.2(RTEL1):c.3546G>T (p.Ser1182=)
|
|
|
NM_001283009.2(RTEL1):c.3547T>A (p.Ser1183Thr)
|
|
|
NM_001283009.2(RTEL1):c.3548C>T (p.Ser1183Phe)
|
|
|
NM_001283009.2(RTEL1):c.354A>C (p.Gln118His)
|
|
|
NM_001283009.2(RTEL1):c.354A>G (p.Gln118=)
|
|
|
NM_001283009.2(RTEL1):c.3550T>G (p.Phe1184Val)
|
|
|
NM_001283009.2(RTEL1):c.3551T>G (p.Phe1184Cys)
|
|
|
NM_001283009.2(RTEL1):c.3552_3555del (p.Phe1184fs)
|
|
|
NM_001283009.2(RTEL1):c.3553C>G (p.Leu1185Val)
|
rs1439323475
|
|
NM_001283009.2(RTEL1):c.3553C>T (p.Leu1185Phe)
|
rs1439323475
|
|
NM_001283009.2(RTEL1):c.3553del (p.Arg1186fs)
|
rs1363124795
|
|
NM_001283009.2(RTEL1):c.3555T>C (p.Leu1185=)
|
|
|
NM_001283009.2(RTEL1):c.3556A>G (p.Arg1186Gly)
|
|
|
NM_001283009.2(RTEL1):c.3557G>A (p.Arg1186Lys)
|
rs2090952685
|
|
NM_001283009.2(RTEL1):c.3558A>G (p.Arg1186=)
|
rs2145479536
|
|
NM_001283009.2(RTEL1):c.3559C>G (p.Gln1187Glu)
|
|
|
NM_001283009.2(RTEL1):c.3559C>T (p.Gln1187Ter)
|
rs776525427
|
|
NM_001283009.2(RTEL1):c.3559_3562del (p.Gln1187fs)
|
|
|
NM_001283009.2(RTEL1):c.3565C>T (p.Pro1189Ser)
|
|
|
NM_001283009.2(RTEL1):c.3566C>T (p.Pro1189Leu)
|
|
|
NM_001283009.2(RTEL1):c.3569C>T (p.Ala1190Val)
|
|
|
NM_001283009.2(RTEL1):c.3571G>A (p.Gly1191Arg)
|
rs2090953166
|
|
NM_001283009.2(RTEL1):c.3571G>C (p.Gly1191Arg)
|
|
|
NM_001283009.2(RTEL1):c.3572G>A (p.Gly1191Glu)
|
|
|
NM_001283009.2(RTEL1):c.3573G>A (p.Gly1191=)
|
rs77864051
|
|
NM_001283009.2(RTEL1):c.3573G>C (p.Gly1191=)
|
|
|
NM_001283009.2(RTEL1):c.3576T>C (p.Thr1192=)
|
|
|
NM_001283009.2(RTEL1):c.3578T>G (p.Val1193Gly)
|
|
|
NM_001283009.2(RTEL1):c.3579G>A (p.Val1193=)
|
rs2090953690
|
|
NM_001283009.2(RTEL1):c.3579G>T (p.Val1193=)
|
|
|
NM_001283009.2(RTEL1):c.3582G>A (p.Gly1194=)
|
rs1601199790
|
|
NM_001283009.2(RTEL1):c.3589G>C (p.Gly1197Arg)
|
|
|
NM_001283009.2(RTEL1):c.3594G>A (p.Glu1198=)
|
rs1440306935
|
|
NM_001283009.2(RTEL1):c.3608G>A (p.Ser1203Asn)
|
rs2145479866
|
|
NM_001283009.2(RTEL1):c.3608G>C (p.Ser1203Thr)
|
|
|
NM_001283009.2(RTEL1):c.3608G>T (p.Ser1203Ile)
|
rs2145479866
|
|
NM_001283009.2(RTEL1):c.3610C>T (p.Gln1204Ter)
|
|
|
NM_001283009.2(RTEL1):c.3614C>T (p.Ser1205Phe)
|
|
|
NM_001283009.2(RTEL1):c.3618A>G (p.Ser1206=)
|
rs200452563
|
|
NM_001283009.2(RTEL1):c.361C>T (p.Gln121Ter)
|
rs2090027846
|
|
NM_001283009.2(RTEL1):c.3623C>T (p.Pro1208Leu)
|
|
|
NM_001283009.2(RTEL1):c.3629A>C (p.His1210Pro)
|
rs1601199974
|
|
NM_001283009.2(RTEL1):c.3629A>G (p.His1210Arg)
|
rs1601199974
|
|
NM_001283009.2(RTEL1):c.3630C>A (p.His1210Gln)
|
|
|
NM_001283009.2(RTEL1):c.3631G>A (p.Gly1211Arg)
|
rs1354993689
|
|
NM_001283009.2(RTEL1):c.3636T>C (p.Pro1212=)
|
|
|
NM_001283009.2(RTEL1):c.3639A>G (p.Ala1213=)
|
|
|
NM_001283009.2(RTEL1):c.3642A>C (p.Ala1214=)
|
|
|
NM_001283009.2(RTEL1):c.3642A>G (p.Ala1214=)
|
rs1228117671
|
|
NM_001283009.2(RTEL1):c.3642A>T (p.Ala1214=)
|
|
|
NM_001283009.2(RTEL1):c.3651G>A (p.Trp1217Ter)
|
|
|
NM_001283009.2(RTEL1):c.3653G>A (p.Gly1218Asp)
|
|
|
NM_001283009.2(RTEL1):c.3658C>T (p.Pro1220Ser)
|
|
|
NM_001283009.2(RTEL1):c.3663T>C (p.His1221=)
|
|
|
NM_001283009.2(RTEL1):c.3665G>A (p.Gly1222Glu)
|
|
|
NM_001283009.2(RTEL1):c.3665G>T (p.Gly1222Val)
|
rs1177347580
|
|
NM_001283009.2(RTEL1):c.3666G>C (p.Gly1222=)
|
rs1408602214
|
|
NM_001283009.2(RTEL1):c.3672_3673del (p.Ile1225fs)
|
rs2145480213
|
|
NM_001283009.2(RTEL1):c.3675C>T (p.Ile1225=)
|
|
|
NM_001283009.2(RTEL1):c.3676G>T (p.Ala1226Ser)
|
rs371373011
|
|
NM_001283009.2(RTEL1):c.3678T>G (p.Ala1226=)
|
rs2145480257
|
|
NM_001283009.2(RTEL1):c.3680G>A (p.Gly1227Glu)
|
|
|
NM_001283009.2(RTEL1):c.3681G>A (p.Gly1227=)
|
|
|
NM_001283009.2(RTEL1):c.3683A>G (p.Gln1228Arg)
|
|
|
NM_001283009.2(RTEL1):c.3684G>A (p.Gln1228=)
|
rs1329071018
|
|
NM_001283009.2(RTEL1):c.3684G>C (p.Gln1228His)
|
|
|
NM_001283009.2(RTEL1):c.3687G>C (p.Gln1229His)
|
|
|
NM_001283009.2(RTEL1):c.3688G>C (p.Ala1230Pro)
|
|
|
NM_001283009.2(RTEL1):c.3689C>T (p.Ala1230Val)
|
|
|
NM_001283009.2(RTEL1):c.3697G>A (p.Ala1233Thr)
|
rs2090957083
|
|
NM_001283009.2(RTEL1):c.3698C>G (p.Ala1233Gly)
|
|
|
NM_001283009.2(RTEL1):c.369C>G (p.Ile123Met)
|
rs2090027882
|
|
NM_001283009.2(RTEL1):c.3700C>T (p.Pro1234Ser)
|
rs1207345139
|
|
NM_001283009.2(RTEL1):c.3702G>T (p.Pro1234=)
|
rs368176460
|
|
NM_001283009.2(RTEL1):c.3703G>C (p.Gly1235Arg)
|
|
|
NM_001283009.2(RTEL1):c.3705C>T (p.Gly1235=)
|
|
|
NM_001283009.2(RTEL1):c.3707G>A (p.Gly1236Glu)
|
|
|
NM_001283009.2(RTEL1):c.3709C>G (p.Pro1237Ala)
|
rs1455414990
|
|
NM_001283009.2(RTEL1):c.3709C>T (p.Pro1237Ser)
|
|
|
NM_001283009.2(RTEL1):c.370A>G (p.Asn124Asp)
|
rs1569080038
|
|
NM_001283009.2(RTEL1):c.3711C>T (p.Pro1237=)
|
|
|
NM_001283009.2(RTEL1):c.3714C>G (p.Leu1238=)
|
rs750749932
|
|
NM_001283009.2(RTEL1):c.3714C>T (p.Leu1238=)
|
|
|
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs)
|
rs1363658406
|
|
NM_001283009.2(RTEL1):c.3716C>T (p.Ser1239Leu)
|
|
|
NM_001283009.2(RTEL1):c.3718G>C (p.Ala1240Pro)
|
|
|
NM_001283009.2(RTEL1):c.3720A>G (p.Ala1240=)
|
|
|
NM_001283009.2(RTEL1):c.3723C>T (p.Gly1241=)
|
rs2145480579
|
|
NM_001283009.2(RTEL1):c.3724T>A (p.Cys1242Ser)
|
|
|
NM_001283009.2(RTEL1):c.3725G>A (p.Cys1242Tyr)
|
|
|
NM_001283009.2(RTEL1):c.3725G>T (p.Cys1242Phe)
|
rs765990015
|
|
NM_001283009.2(RTEL1):c.3730_3731del (p.Cys1244fs)
|
rs1316931773
|
|
NM_001283009.2(RTEL1):c.3734A>G (p.Gln1245Arg)
|
rs2090958582
|
|
NM_001283009.2(RTEL1):c.3736G>A (p.Gly1246Ser)
|
rs2145480651
|
|
NM_001283009.2(RTEL1):c.373G>A (p.Glu125Lys)
|
|
|
NM_001283009.2(RTEL1):c.3741T>C (p.Cys1247=)
|
|
|
NM_001283009.2(RTEL1):c.3746C>A (p.Ala1249Glu)
|
|
|
NM_001283009.2(RTEL1):c.3746C>T (p.Ala1249Val)
|
rs1601200584
|
|
NM_001283009.2(RTEL1):c.3754G>A (p.Val1252Met)
|
|
|
NM_001283009.2(RTEL1):c.3754GTG[1] (p.Val1253del)
|
|
|
NM_001283009.2(RTEL1):c.3756G>C (p.Val1252=)
|
rs2145480744
|
|
NM_001283009.2(RTEL1):c.3760C>G (p.Pro1254Ala)
|
|
|
NM_001283009.2(RTEL1):c.3761C>T (p.Pro1254Leu)
|
|
|
NM_001283009.2(RTEL1):c.3762C>T (p.Pro1254=)
|
rs1412784170
|
|
NM_001283009.2(RTEL1):c.3765C>T (p.Phe1255=)
|
|
|
NM_001283009.2(RTEL1):c.3766C>A (p.Gln1256Lys)
|
|
|
NM_001283009.2(RTEL1):c.3774T>C (p.Pro1258=)
|
rs2145480887
|
|
NM_001283009.2(RTEL1):c.3775_3776del (p.Ala1259fs)
|
rs2145480909
|
|
NM_001283009.2(RTEL1):c.3776_3779del (p.Ala1259fs)
|
rs764058481
|
|
NM_001283009.2(RTEL1):c.3777C>G (p.Ala1259=)
|
rs1297204312
|
|
NM_001283009.2(RTEL1):c.3777C>T (p.Ala1259=)
|
rs1297204312
|
|
NM_001283009.2(RTEL1):c.3780T>C (p.Cys1260=)
|
|
|
NM_001283009.2(RTEL1):c.3783C>G (p.Asp1261Glu)
|
rs376313219
|
|
NM_001283009.2(RTEL1):c.3783C>T (p.Asp1261=)
|
rs376313219
|
|
NM_001283009.2(RTEL1):c.3787C>T (p.Gln1263Ter)
|
rs2145480992
|
|
NM_001283009.2(RTEL1):c.3787del (p.Gln1263fs)
|
rs2145480981
|
|
NM_001283009.2(RTEL1):c.3792C>T (p.Arg1264=)
|
rs773596641
|
|
NM_001283009.2(RTEL1):c.3795C>T (p.Cys1265=)
|
rs2145481027
|
|
NM_001283009.2(RTEL1):c.379C>T (p.Arg127Trp)
|
|
|
NM_001283009.2(RTEL1):c.3801C>G (p.Ala1267=)
|
rs368388044
|
|
NM_001283009.2(RTEL1):c.3803G>C (p.Cys1268Ser)
|
rs1601200861
|
|
NM_001283009.2(RTEL1):c.3804C>T (p.Cys1268=)
|
rs1601200869
|
|
NM_001283009.2(RTEL1):c.3805T>C (p.Trp1269Arg)
|
|
|
NM_001283009.2(RTEL1):c.3807G>A (p.Trp1269Ter)
|
|
|
NM_001283009.2(RTEL1):c.3810A>G (p.Gln1270=)
|
rs1017294740
|
|
NM_001283009.2(RTEL1):c.3813G>A (p.Arg1271=)
|
rs2145481166
|
|
NM_001283009.2(RTEL1):c.3817C>T (p.Leu1273Phe)
|
|
|
NM_001283009.2(RTEL1):c.3821A>G (p.Gln1274Arg)
|
|
|
NM_001283009.2(RTEL1):c.3822+13C>T
|
|
|
NM_001283009.2(RTEL1):c.3822+14C>T
|
|
|
NM_001283009.2(RTEL1):c.3822+16C>G
|
rs2145481282
|
|
NM_001283009.2(RTEL1):c.3822+16C>T
|
|
|
NM_001283009.2(RTEL1):c.3822+19C>G
|
|
|
NM_001283009.2(RTEL1):c.3822+19C>T
|
|
|
NM_001283009.2(RTEL1):c.3822+1G>A
|
|
|
NM_001283009.2(RTEL1):c.3822+20A>C
|
|
|
NM_001283009.2(RTEL1):c.3822+7G>A
|
rs2145481218
|
|
NM_001283009.2(RTEL1):c.3822+7G>T
|
rs2145481218
|
|
NM_001283009.2(RTEL1):c.3822+8C>A
|
|
|
NM_001283009.2(RTEL1):c.3822+8C>G
|
rs373109673
|
|
NM_001283009.2(RTEL1):c.3823-11T>C
|
|
|
NM_001283009.2(RTEL1):c.3823-12G>C
|
|
|
NM_001283009.2(RTEL1):c.3823-12G>T
|
rs758193076
|
|
NM_001283009.2(RTEL1):c.3823-14C>G
|
|
|
NM_001283009.2(RTEL1):c.3823-17G>A
|
|
|
NM_001283009.2(RTEL1):c.3823-18G>C
|
|
|
NM_001283009.2(RTEL1):c.3823-19T>C
|
rs2145481921
|
|
NM_001283009.2(RTEL1):c.3823-6T>C
|
rs2090965747
|
|
NM_001283009.2(RTEL1):c.3823-7C>G
|
rs373163953
|
|
NM_001283009.2(RTEL1):c.3823-8T>C
|
rs748427789
|
|
NM_001283009.2(RTEL1):c.3823-9G>C
|
|
|
NM_001283009.2(RTEL1):c.3823G>T (p.Ala1275Ser)
|
rs2090966039
|
|
NM_001283009.2(RTEL1):c.3824C>G (p.Ala1275Gly)
|
rs771296244
|
|
NM_001283009.2(RTEL1):c.3824C>T (p.Ala1275Val)
|
|
|
NM_001283009.2(RTEL1):c.3831G>A (p.Arg1277=)
|
rs2145482103
|
|
NM_001283009.2(RTEL1):c.3831G>T (p.Arg1277Ser)
|
|
|
NM_001283009.2(RTEL1):c.3834G>A (p.Met1278Ile)
|
rs1428387350
|
|
NM_001283009.2(RTEL1):c.3837C>T (p.Cys1279=)
|
|
|
NM_001283009.2(RTEL1):c.3841G>A (p.Ala1281Thr)
|
|
|
NM_001283009.2(RTEL1):c.3842C>T (p.Ala1281Val)
|
rs1601201761
|
|
NM_001283009.2(RTEL1):c.3843C>T (p.Ala1281=)
|
rs2145482161
|
|
NM_001283009.2(RTEL1):c.384C>T (p.Asn128=)
|
rs145001682
|
|
NM_001283009.2(RTEL1):c.3855C>G (p.Ala1285=)
|
|
|
NM_001283009.2(RTEL1):c.3857C>T (p.Ser1286Phe)
|
|
|
NM_001283009.2(RTEL1):c.3859A>C (p.Arg1287=)
|
rs1346607345
|
|
NM_001283009.2(RTEL1):c.3863A>G (p.Lys1288Arg)
|
|
|
NM_001283009.2(RTEL1):c.3867G>A (p.Gln1289=)
|
|
|
NM_001283009.2(RTEL1):c.3871G>A (p.Val1291Ile)
|
|
|
NM_001283009.2(RTEL1):c.3874del (p.Met1292fs)
|
|
|
NM_001283009.2(RTEL1):c.3877C>G (p.Gln1293Glu)
|
|
|
NM_001283009.2(RTEL1):c.3877C>T (p.Gln1293Ter)
|
|
|
NM_001283009.2(RTEL1):c.3878del (p.Gln1293fs)
|
|
|
NM_001283009.2(RTEL1):c.387C>G (p.Thr129=)
|
|
|
NM_001283009.2(RTEL1):c.3881T>C (p.Val1294Ala)
|
|
|
NM_001283009.2(RTEL1):c.3882C>A (p.Val1294=)
|
|
|
NM_001283009.2(RTEL1):c.3882C>G (p.Val1294=)
|
|
|
NM_001283009.2(RTEL1):c.3882C>T (p.Val1294=)
|
|
|
NM_001283009.2(RTEL1):c.3889C>T (p.Pro1297Ser)
|
rs2090967528
|
|
NM_001283009.2(RTEL1):c.388_389del (p.Ser130fs)
|
rs1555899640
|
|
NM_001283009.2(RTEL1):c.3894G>A (p.Glu1298=)
|
rs1267242039
|
|
NM_001283009.2(RTEL1):c.3897C>T (p.Pro1299=)
|
rs771051288
|
|
NM_001283009.2(RTEL1):c.389C>A (p.Ser130Tyr)
|
|
|
NM_001283009.2(RTEL1):c.3900G>A (p.Gln1300=)
|
rs374244090
|
|
NM_001283009.2(RTEL1):c.390C>T (p.Ser130=)
|
|
|
NM_001283009.2(RTEL1):c.394C>A (p.Arg132=)
|
|
|
NM_001283009.2(RTEL1):c.394C>T (p.Arg132Trp)
|
rs769533935
|
|
NM_001283009.2(RTEL1):c.395+11C>A
|
|
|
NM_001283009.2(RTEL1):c.395+11C>T
|
|
|
NM_001283009.2(RTEL1):c.395+18A>C
|
rs946202479
|
|
NM_001283009.2(RTEL1):c.395+18A>G
|
|
|
NM_001283009.2(RTEL1):c.395+19C>T
|
|
|
NM_001283009.2(RTEL1):c.395+1G>T
|
|
|
NM_001283009.2(RTEL1):c.395+20A>C
|
|
|
NM_001283009.2(RTEL1):c.395+4G>T
|
rs2146151011
|
|
NM_001283009.2(RTEL1):c.395+8A>G
|
rs992952054
|
|
NM_001283009.2(RTEL1):c.395+8A>T
|
rs992952054
|
|
NM_001283009.2(RTEL1):c.395+9G>A
|
rs2146151037
|
|
NM_001283009.2(RTEL1):c.396-19C>G
|
|
|
NM_001283009.2(RTEL1):c.396-20A>G
|
rs1601086623
|
|
NM_001283009.2(RTEL1):c.396-2A>G
|
|
|
NM_001283009.2(RTEL1):c.396-50T>C
|
rs1555899781
|
|
NM_001283009.2(RTEL1):c.396-6C>A
|
rs778603711
|
|
NM_001283009.2(RTEL1):c.396-7C>T
|
|
|
NM_001283009.2(RTEL1):c.396-8C>G
|
|
|
NM_001283009.2(RTEL1):c.396G>C (p.Arg132=)
|
|
|
NM_001283009.2(RTEL1):c.397C>A (p.Pro133Thr)
|
|
|
NM_001283009.2(RTEL1):c.397C>T (p.Pro133Ser)
|
rs942504504
|
|
NM_001283009.2(RTEL1):c.402G>A (p.Lys134=)
|
rs6062480
|
|
NM_001283009.2(RTEL1):c.411G>T (p.Val137=)
|
rs1447538895
|
|
NM_001283009.2(RTEL1):c.412C>T (p.Leu138=)
|
rs2146153879
|
|
NM_001283009.2(RTEL1):c.422G>A (p.Arg141Gln)
|
rs1242481082
|
|
NM_001283009.2(RTEL1):c.422G>T (p.Arg141Leu)
|
|
|
NM_001283009.2(RTEL1):c.423G>A (p.Arg141=)
|
|
|
NM_001283009.2(RTEL1):c.424G>A (p.Glu142Lys)
|
|
|
NM_001283009.2(RTEL1):c.426G>A (p.Glu142=)
|
|
|
NM_001283009.2(RTEL1):c.430C>T (p.Leu144=)
|
|
|
NM_001283009.2(RTEL1):c.438C>T (p.Ile146=)
|
|
|
NM_001283009.2(RTEL1):c.440_443dup (p.Glu149fs)
|
rs2146153920
|
|
NM_001283009.2(RTEL1):c.442C>T (p.Pro148Ser)
|
|
|
NM_001283009.2(RTEL1):c.447G>C (p.Glu149Asp)
|
|
|
NM_001283009.2(RTEL1):c.45C>A (p.Phe15Leu)
|
rs1296968885
|
|
NM_001283009.2(RTEL1):c.460G>C (p.Glu154Gln)
|
rs2146154075
|
|
NM_001283009.2(RTEL1):c.463A>G (p.Ser155Gly)
|
|
|
NM_001283009.2(RTEL1):c.463_464del (p.Glu154_Ser155insTer)
|
|
|
NM_001283009.2(RTEL1):c.467A>G (p.Asn156Ser)
|
rs774724599
|
|
NM_001283009.2(RTEL1):c.46C>T (p.Gln16Ter)
|
rs2146141455
|
|
NM_001283009.2(RTEL1):c.471T>C (p.His157=)
|
rs2146154143
|
|
NM_001283009.2(RTEL1):c.475C>T (p.Gln159Ter)
|
rs2090043175
|
|
NM_001283009.2(RTEL1):c.477+13G>A
|
|
|
NM_001283009.2(RTEL1):c.477+13G>C
|
rs764646296
|
|
NM_001283009.2(RTEL1):c.477+15T>A
|
|
|
NM_001283009.2(RTEL1):c.477+18C>A
|
|
|
NM_001283009.2(RTEL1):c.477+18C>G
|
|
|
NM_001283009.2(RTEL1):c.477+18C>T
|
|
|
NM_001283009.2(RTEL1):c.477+19G>A
|
rs6010997
|
|
NM_001283009.2(RTEL1):c.477+19G>T
|
rs6010997
|
|
NM_001283009.2(RTEL1):c.477+1G>A
|
|
|
NM_001283009.2(RTEL1):c.477+20C>G
|
|
|
NM_001283009.2(RTEL1):c.477+20C>T
|
|
|
NM_001283009.2(RTEL1):c.477+6C>T
|
rs1321816687
|
|
NM_001283009.2(RTEL1):c.478-10C>G
|
rs2146155464
|
|
NM_001283009.2(RTEL1):c.478-10C>T
|
rs2146155464
|
|
NM_001283009.2(RTEL1):c.478-12T>G
|
|
|
NM_001283009.2(RTEL1):c.478-13C>G
|
rs769890048
|
|
NM_001283009.2(RTEL1):c.478-13C>T
|
|
|
NM_001283009.2(RTEL1):c.478-14C>T
|
|
|
NM_001283009.2(RTEL1):c.478-18C>T
|
|
|
NM_001283009.2(RTEL1):c.47A>G (p.Gln16Arg)
|
|
|
NM_001283009.2(RTEL1):c.480C>G (p.Ile160Met)
|
|
|
NM_001283009.2(RTEL1):c.483C>T (p.His161=)
|
rs2090048149
|
|
NM_001283009.2(RTEL1):c.484T>C (p.Leu162=)
|
|
|
NM_001283009.2(RTEL1):c.491G>A (p.Arg164His)
|
rs377176432
|
|
NM_001283009.2(RTEL1):c.491G>T (p.Arg164Leu)
|
|
|
NM_001283009.2(RTEL1):c.492T>G (p.Arg164=)
|
rs2146155614
|
|
NM_001283009.2(RTEL1):c.499G>A (p.Val167Met)
|
|
|
NM_001283009.2(RTEL1):c.4_46dup (p.Gln16fs)
|
rs2146141304
|
|
NM_001283009.2(RTEL1):c.500T>G (p.Val167Gly)
|
rs1601087815
|
|
NM_001283009.2(RTEL1):c.502G>A (p.Ala168Thr)
|
|
|
NM_001283009.2(RTEL1):c.503C>T (p.Ala168Val)
|
rs2090048504
|
|
NM_001283009.2(RTEL1):c.504A>G (p.Ala168=)
|
|
|
NM_001283009.2(RTEL1):c.508C>T (p.Arg170Cys)
|
rs866785110
|
|
NM_001283009.2(RTEL1):c.519T>C (p.His173=)
|
rs2146155750
|
|
NM_001283009.2(RTEL1):c.522C>A (p.Phe174Leu)
|
|
|
NM_001283009.2(RTEL1):c.522C>T (p.Phe174=)
|
|
|
NM_001283009.2(RTEL1):c.526A>G (p.Asn176Asp)
|
rs2146155790
|
|
NM_001283009.2(RTEL1):c.530A>G (p.Asn177Ser)
|
|
|
NM_001283009.2(RTEL1):c.534A>G (p.Val178=)
|
|
|
NM_001283009.2(RTEL1):c.535G>T (p.Glu179Ter)
|
rs1555899932
|
|
NM_001283009.2(RTEL1):c.538+10G>T
|
|
|
NM_001283009.2(RTEL1):c.538+11del
|
|
|
NM_001283009.2(RTEL1):c.538+12T>G
|
|
|
NM_001283009.2(RTEL1):c.538+14G>C
|
|
|
NM_001283009.2(RTEL1):c.538+16T>G
|
|
|
NM_001283009.2(RTEL1):c.538+17G>T
|
|
|
NM_001283009.2(RTEL1):c.538+19G>A
|
|
|
NM_001283009.2(RTEL1):c.538+20A>T
|
rs2090049738
|
|
NM_001283009.2(RTEL1):c.538+4C>G
|
|
|
NM_001283009.2(RTEL1):c.538+8C>A
|
rs749049004
|
|
NM_001283009.2(RTEL1):c.539-10A>G
|
rs2146169484
|
|
NM_001283009.2(RTEL1):c.539-12T>C
|
|
|
NM_001283009.2(RTEL1):c.539-14C>A
|
|
|
NM_001283009.2(RTEL1):c.539-16T>A
|
rs1460115448
|
|
NM_001283009.2(RTEL1):c.539-17C>T
|
|
|
NM_001283009.2(RTEL1):c.539-18C>G
|
|
|
NM_001283009.2(RTEL1):c.539-18C>T
|
|
|
NM_001283009.2(RTEL1):c.539-19C>T
|
|
|
NM_001283009.2(RTEL1):c.539-20C>T
|
|
|
NM_001283009.2(RTEL1):c.539-8A>C
|
|
|
NM_001283009.2(RTEL1):c.539A>G (p.Glu180Gly)
|
|
|
NM_001283009.2(RTEL1):c.540A>T (p.Glu180Asp)
|
rs1301531897
|
|
NM_001283009.2(RTEL1):c.543A>G (p.Lys181=)
|
rs2146169553
|
|
NM_001283009.2(RTEL1):c.547C>T (p.Leu183=)
|
rs2090119493
|
|
NM_001283009.2(RTEL1):c.549G>A (p.Leu183=)
|
|
|
NM_001283009.2(RTEL1):c.54C>T (p.Tyr18=)
|
|
|
NM_001283009.2(RTEL1):c.552G>A (p.Glu184=)
|
|
|
NM_001283009.2(RTEL1):c.554A>G (p.Gln185Arg)
|
|
|
NM_001283009.2(RTEL1):c.555G>A (p.Gln185=)
|
|
|
NM_001283009.2(RTEL1):c.557A>G (p.Glu186Gly)
|
|
|
NM_001283009.2(RTEL1):c.559C>T (p.Leu187=)
|
rs769782509
|
|
NM_001283009.2(RTEL1):c.561G>C (p.Leu187=)
|
rs1601096162
|
|
NM_001283009.2(RTEL1):c.562G>A (p.Ala188Thr)
|
|
|
NM_001283009.2(RTEL1):c.56A>G (p.Lys19Arg)
|
rs2146141516
|
|
NM_001283009.2(RTEL1):c.57A>G (p.Lys19=)
|
|
|
NM_001283009.2(RTEL1):c.580A>G (p.Ile194Val)
|
rs963605629
|
|
NM_001283009.2(RTEL1):c.588C>T (p.Asp196=)
|
rs2090120009
|
|
NM_001283009.2(RTEL1):c.594C>G (p.Val198=)
|
rs774564498
|
|
NM_001283009.2(RTEL1):c.594C>T (p.Val198=)
|
|
|
NM_001283009.2(RTEL1):c.595A>G (p.Lys199Glu)
|
rs1601096259
|
|
NM_001283009.2(RTEL1):c.597G>A (p.Lys199=)
|
|
|
NM_001283009.2(RTEL1):c.599G>A (p.Ser200Asn)
|
|
|
NM_001283009.2(RTEL1):c.599G>C (p.Ser200Thr)
|
rs2090120174
|
|
NM_001283009.2(RTEL1):c.600C>T (p.Ser200=)
|
rs771785679
|
|
NM_001283009.2(RTEL1):c.601G>A (p.Gly201Arg)
|
|
|
NM_001283009.2(RTEL1):c.602del (p.Gly201fs)
|
rs863223336
|
|
NM_001283009.2(RTEL1):c.613A>G (p.Arg205Gly)
|
|
|
NM_001283009.2(RTEL1):c.614+10dup
|
|
|
NM_001283009.2(RTEL1):c.614+13A>G
|
|
|
NM_001283009.2(RTEL1):c.614+14G>T
|
|
|
NM_001283009.2(RTEL1):c.614+16G>T
|
|
|
NM_001283009.2(RTEL1):c.614+17A>G
|
|
|
NM_001283009.2(RTEL1):c.614+1G>C
|
|
|
NM_001283009.2(RTEL1):c.614+7C>T
|
|
|
NM_001283009.2(RTEL1):c.614+9C>G
|
|
|
NM_001283009.2(RTEL1):c.614+9C>T
|
rs2090120974
|
|
NM_001283009.2(RTEL1):c.615-13C>G
|
|
|
NM_001283009.2(RTEL1):c.615-149C>G
|
rs7261546
|
|
NM_001283009.2(RTEL1):c.615-15C>T
|
|
|
NM_001283009.2(RTEL1):c.615-15CT[2]
|
|
|
NM_001283009.2(RTEL1):c.615-15_615-13del
|
rs764810346
|
|
NM_001283009.2(RTEL1):c.615-18C>A
|
|
|
NM_001283009.2(RTEL1):c.615-18C>T
|
|
|
NM_001283009.2(RTEL1):c.615-3C>G
|
rs2090159810
|
|
NM_001283009.2(RTEL1):c.615-4C>G
|
|
|
NM_001283009.2(RTEL1):c.615-6del
|
|
|
NM_001283009.2(RTEL1):c.618G>A (p.Val206=)
|
rs181508842
|
|
NM_001283009.2(RTEL1):c.61C>T (p.Gln21Ter)
|
|
|
NM_001283009.2(RTEL1):c.621C>T (p.Cys207=)
|
|
|
NM_001283009.2(RTEL1):c.624T>G (p.Pro208=)
|
rs1396123455
|
|
NM_001283009.2(RTEL1):c.627C>T (p.Tyr209=)
|
|
|
NM_001283009.2(RTEL1):c.631C>T (p.Leu211=)
|
|
|
NM_001283009.2(RTEL1):c.632T>A (p.Leu211Gln)
|
|
|
NM_001283009.2(RTEL1):c.635C>T (p.Ser212Phe)
|
|
|
NM_001283009.2(RTEL1):c.639G>C (p.Arg213=)
|
rs2146176191
|
|
NM_001283009.2(RTEL1):c.642C>T (p.Asn214=)
|
|
|
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter)
|
rs780546933
|
|
NM_001283009.2(RTEL1):c.660C>T (p.Asp220=)
|
|
|
NM_001283009.2(RTEL1):c.664A>G (p.Ile222Val)
|
rs1235107432
|
|
NM_001283009.2(RTEL1):c.667T>C (p.Phe223Leu)
|
|
|
NM_001283009.2(RTEL1):c.670A>G (p.Met224Val)
|
|
|
NM_001283009.2(RTEL1):c.674C>G (p.Pro225Arg)
|
|
|
NM_001283009.2(RTEL1):c.674C>T (p.Pro225Leu)
|
|
|
NM_001283009.2(RTEL1):c.675G>A (p.Pro225=)
|
rs762854518
|
|
NM_001283009.2(RTEL1):c.675G>T (p.Pro225=)
|
rs762854518
|
|
NM_001283009.2(RTEL1):c.67G>A (p.Glu23Lys)
|
|
|
NM_001283009.2(RTEL1):c.680A>G (p.Asn227Ser)
|
|
|
NM_001283009.2(RTEL1):c.682T>C (p.Tyr228His)
|
|
|
NM_001283009.2(RTEL1):c.683A>G (p.Tyr228Cys)
|
|
|
NM_001283009.2(RTEL1):c.684C>T (p.Tyr228=)
|
|
|
NM_001283009.2(RTEL1):c.687G>A (p.Leu229=)
|
|
|
NM_001283009.2(RTEL1):c.688T>C (p.Leu230=)
|
|
|
NM_001283009.2(RTEL1):c.692A>T (p.Asp231Val)
|
|
|
NM_001283009.2(RTEL1):c.693T>A (p.Asp231Glu)
|
|
|
NM_001283009.2(RTEL1):c.695C>T (p.Ala232Val)
|
rs1035560386
|
|
NM_001283009.2(RTEL1):c.698A>G (p.Lys233Arg)
|
|
|
NM_001283009.2(RTEL1):c.699+10C>G
|
|
|
NM_001283009.2(RTEL1):c.699+10C>T
|
rs2090161637
|
|
NM_001283009.2(RTEL1):c.699+15C>T
|
|
|
NM_001283009.2(RTEL1):c.699+16T>C
|
|
|
NM_001283009.2(RTEL1):c.699+17G>T
|
rs757244305
|
|
NM_001283009.2(RTEL1):c.699+18T>C
|
|
|
NM_001283009.2(RTEL1):c.699+19_699+22dup
|
|
|
NM_001283009.2(RTEL1):c.699+20G>A
|
|
|
NM_001283009.2(RTEL1):c.699+3G>A
|
|
|
NM_001283009.2(RTEL1):c.699+3G>T
|
|
|
NM_001283009.2(RTEL1):c.699+6G>T
|
|
|
NM_001283009.2(RTEL1):c.699+7G>A
|
|
|
NM_001283009.2(RTEL1):c.699+7G>T
|
rs2090161521
|
|
NM_001283009.2(RTEL1):c.699+8C>T
|
rs891838113
|
|
NM_001283009.2(RTEL1):c.69G>A (p.Glu23=)
|
|
|
NM_001283009.2(RTEL1):c.700-10C>T
|
rs1477756577
|
|
NM_001283009.2(RTEL1):c.700-13C>T
|
|
|
NM_001283009.2(RTEL1):c.700-14T>G
|
rs2146193119
|
|
NM_001283009.2(RTEL1):c.700-18C>T
|
|
|
NM_001283009.2(RTEL1):c.700-19C>T
|
|
|
NM_001283009.2(RTEL1):c.700-20C>G
|
|
|
NM_001283009.2(RTEL1):c.700-20C>T
|
|
|
NM_001283009.2(RTEL1):c.700-4G>A
|
|
|
NM_001283009.2(RTEL1):c.700-4G>C
|
|
|
NM_001283009.2(RTEL1):c.700-5T>C
|
|
|
NM_001283009.2(RTEL1):c.700-6C>T
|
rs2146193173
|
|
NM_001283009.2(RTEL1):c.700-7C>A
|
rs762108680
|
|
NM_001283009.2(RTEL1):c.700-7C>G
|
rs762108680
|
|
NM_001283009.2(RTEL1):c.700-7C>T
|
rs762108680
|
|
NM_001283009.2(RTEL1):c.700-8T>C
|
|
|
NM_001283009.2(RTEL1):c.702C>T (p.Ser234=)
|
|
|
NM_001283009.2(RTEL1):c.704G>A (p.Arg235His)
|
rs549397879
|
|
NM_001283009.2(RTEL1):c.711A>G (p.Ala237=)
|
rs2090266105
|
|
NM_001283009.2(RTEL1):c.712C>T (p.His238Tyr)
|
|
|
NM_001283009.2(RTEL1):c.715A>G (p.Asn239Asp)
|
|
|
NM_001283009.2(RTEL1):c.716A>G (p.Asn239Ser)
|
rs375403784
|
|
NM_001283009.2(RTEL1):c.717C>G (p.Asn239Lys)
|
|
|
NM_001283009.2(RTEL1):c.721G>A (p.Asp241Asn)
|
|
|
NM_001283009.2(RTEL1):c.723C>T (p.Asp241=)
|
rs755475482
|
|
NM_001283009.2(RTEL1):c.726G>C (p.Leu242=)
|
|
|
NM_001283009.2(RTEL1):c.72C>G (p.Tyr24Ter)
|
|
|
NM_001283009.2(RTEL1):c.732G>A (p.Gly244=)
|
rs919917378
|
|
NM_001283009.2(RTEL1):c.732G>T (p.Gly244=)
|
|
|
NM_001283009.2(RTEL1):c.734C>T (p.Thr245Ile)
|
|
|
NM_001283009.2(RTEL1):c.735A>C (p.Thr245=)
|
rs2090266464
|
|
NM_001283009.2(RTEL1):c.744C>T (p.Ile248=)
|
rs748518636
|
|
NM_001283009.2(RTEL1):c.747T>C (p.Phe249=)
|
rs755757008
|
|
NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys)
|
rs398123019
|
|
NM_001283009.2(RTEL1):c.755C>T (p.Ala252Val)
|
|
|
NM_001283009.2(RTEL1):c.756T>C (p.Ala252=)
|
rs2146193395
|
|
NM_001283009.2(RTEL1):c.758A>T (p.His253Leu)
|
rs2146193406
|
|
NM_001283009.2(RTEL1):c.75G>A (p.Met25Ile)
|
|
|
NM_001283009.2(RTEL1):c.763G>C (p.Val255Leu)
|
|
|
NM_001283009.2(RTEL1):c.765+10del
|
rs2090267244
|
|
NM_001283009.2(RTEL1):c.765+11G>T
|
|
|
NM_001283009.2(RTEL1):c.765+18T>G
|
|
|
NM_001283009.2(RTEL1):c.765+7C>A
|
rs745788486
|
|
NM_001283009.2(RTEL1):c.765+7C>G
|
|
|
NM_001283009.2(RTEL1):c.765+9C>A
|
rs1445188665
|
|
NM_001283009.2(RTEL1):c.765+9C>T
|
rs1445188665
|
|
NM_001283009.2(RTEL1):c.766-14T>C
|
|
|
NM_001283009.2(RTEL1):c.766-15G>A
|
|
|
NM_001283009.2(RTEL1):c.766-20C>T
|
|
|
NM_001283009.2(RTEL1):c.766-4C>T
|
rs778247916
|
|
NM_001283009.2(RTEL1):c.766-6C>G
|
|
|
NM_001283009.2(RTEL1):c.766-6C>T
|
|
|
NM_001283009.2(RTEL1):c.766-6del
|
|
|
NM_001283009.2(RTEL1):c.775T>C (p.Cys259Arg)
|
|
|
NM_001283009.2(RTEL1):c.77C>T (p.Thr26Ile)
|
|
|
NM_001283009.2(RTEL1):c.783A>G (p.Glu261=)
|
|
|
NM_001283009.2(RTEL1):c.789A>G (p.Ala263=)
|
rs2090296302
|
|
NM_001283009.2(RTEL1):c.792C>G (p.Ser264=)
|
rs768600790
|
|
NM_001283009.2(RTEL1):c.792C>T (p.Ser264=)
|
rs768600790
|
|
NM_001283009.2(RTEL1):c.801G>T (p.Leu267=)
|
|
|
NM_001283009.2(RTEL1):c.802A>G (p.Thr268Ala)
|
rs115889392
|
|
NM_001283009.2(RTEL1):c.806C>T (p.Pro269Leu)
|
|
|
NM_001283009.2(RTEL1):c.809A>C (p.His270Pro)
|
|
|
NM_001283009.2(RTEL1):c.80A>G (p.Lys27Arg)
|
rs1240428205
|
|
NM_001283009.2(RTEL1):c.810T>C (p.His270=)
|
rs2090296595
|
|
NM_001283009.2(RTEL1):c.81G>A (p.Lys27=)
|
rs1475151056
|
|
NM_001283009.2(RTEL1):c.821C>G (p.Ser274Ter)
|
|
|
NM_001283009.2(RTEL1):c.828G>A (p.Leu276=)
|
rs2146197796
|
|
NM_001283009.2(RTEL1):c.832G>A (p.Val278Ile)
|
|
|
NM_001283009.2(RTEL1):c.834C>T (p.Val278=)
|
|
|
NM_001283009.2(RTEL1):c.835A>C (p.Ile279Leu)
|
|
|
NM_001283009.2(RTEL1):c.836T>C (p.Ile279Thr)
|
|
|
NM_001283009.2(RTEL1):c.836_837del (p.Ile279fs)
|
rs2146197831
|
|
NM_001283009.2(RTEL1):c.83T>G (p.Val28Gly)
|
|
|
NM_001283009.2(RTEL1):c.842A>G (p.Gln281Arg)
|
|
|
NM_001283009.2(RTEL1):c.847C>T (p.Leu283=)
|
rs1203271959
|
|
NM_001283009.2(RTEL1):c.849G>A (p.Leu283=)
|
rs1278146543
|
|
NM_001283009.2(RTEL1):c.84C>T (p.Val28=)
|
|
|
NM_001283009.2(RTEL1):c.850G>T (p.Glu284Ter)
|
|
|
NM_001283009.2(RTEL1):c.855G>A (p.Glu285=)
|
|
|
NM_001283009.2(RTEL1):c.858G>A (p.Gln286=)
|
|
|
NM_001283009.2(RTEL1):c.85C>T (p.Leu29=)
|
|
|
NM_001283009.2(RTEL1):c.861C>G (p.Thr287=)
|
rs2146197933
|
|
NM_001283009.2(RTEL1):c.864G>A (p.Lys288=)
|
|
|
NM_001283009.2(RTEL1):c.865G>T (p.Ala289Ser)
|
|
|
NM_001283009.2(RTEL1):c.870G>T (p.Ala290=)
|
|
|
NM_001283009.2(RTEL1):c.878G>A (p.Gly293Asp)
|
rs779999090
|
|
NM_001283009.2(RTEL1):c.87G>A (p.Leu29=)
|
|
|
NM_001283009.2(RTEL1):c.884C>G (p.Pro295Arg)
|
rs781117322
|
|
NM_001283009.2(RTEL1):c.889C>G (p.Pro297Ala)
|
|
|
NM_001283009.2(RTEL1):c.889C>T (p.Pro297Ser)
|
|
|
NM_001283009.2(RTEL1):c.893A>C (p.Glu298Ala)
|
rs371358427
|
|
NM_001283009.2(RTEL1):c.897C>G (p.Phe299Leu)
|
|
|
NM_001283009.2(RTEL1):c.897del (p.Phe299fs)
|
rs1555901832
|
|
NM_001283009.2(RTEL1):c.898A>T (p.Ser300Cys)
|
rs1601119963
|
|
NM_001283009.2(RTEL1):c.900C>G (p.Ser300Arg)
|
|
|
NM_001283009.2(RTEL1):c.900C>T (p.Ser300=)
|
rs146100165
|
|
NM_001283009.2(RTEL1):c.901_919+72del
|
rs1569090870
|
|
NM_001283009.2(RTEL1):c.903G>C (p.Ala301=)
|
|
|
NM_001283009.2(RTEL1):c.904G>A (p.Asp302Asn)
|
|
|
NM_001283009.2(RTEL1):c.904G>T (p.Asp302Tyr)
|
|
|
NM_001283009.2(RTEL1):c.912C>A (p.Pro304=)
|
rs2090300245
|
|
NM_001283009.2(RTEL1):c.915C>G (p.Ser305Arg)
|
|
|
NM_001283009.2(RTEL1):c.916C>T (p.Pro306Ser)
|
|
|
NM_001283009.2(RTEL1):c.919+14C>T
|
|
|
NM_001283009.2(RTEL1):c.919+16G>T
|
|
|
NM_001283009.2(RTEL1):c.919+17_919+107del
|
rs1601119996
|
|
NM_001283009.2(RTEL1):c.919+18C>T
|
|
|
NM_001283009.2(RTEL1):c.919+20G>A
|
|
|
NM_001283009.2(RTEL1):c.919+2T>C
|
|
|
NM_001283009.2(RTEL1):c.919+36_919+126del
|
|
|
NM_001283009.2(RTEL1):c.919+3G>A
|
|
|
NM_001283009.2(RTEL1):c.919+3G>T
|
|
|
NM_001283009.2(RTEL1):c.919+4C>T
|
|
|
NM_001283009.2(RTEL1):c.919+5G>A
|
|
|
NM_001283009.2(RTEL1):c.919+8C>T
|
|
|
NM_001283009.2(RTEL1):c.919+9A>G
|
rs370171576
|
|
NM_001283009.2(RTEL1):c.920-11C>G
|
|
|
NM_001283009.2(RTEL1):c.920-13T>A
|
|
|
NM_001283009.2(RTEL1):c.920-17G>A
|
|
|
NM_001283009.2(RTEL1):c.920-20G>A
|
|
|
NM_001283009.2(RTEL1):c.920-20_920-12del
|
rs781615421
|
|
NM_001283009.2(RTEL1):c.920-6G>A
|
|
|
NM_001283009.2(RTEL1):c.920-6G>T
|
rs754549270
|
|
NM_001283009.2(RTEL1):c.920-7T>C
|
|
|
NM_001283009.2(RTEL1):c.920-9C>G
|
rs910613998
|
|
NM_001283009.2(RTEL1):c.921G>C (p.Gly307=)
|
rs2146210729
|
|
NM_001283009.2(RTEL1):c.927C>T (p.Asn309=)
|
rs2146210742
|
|
NM_001283009.2(RTEL1):c.934C>G (p.Leu312Val)
|
|
|
NM_001283009.2(RTEL1):c.934C>T (p.Leu312=)
|
|
|
NM_001283009.2(RTEL1):c.936G>C (p.Leu312=)
|
rs41302954
|
|
NM_001283009.2(RTEL1):c.937G>A (p.Glu313Lys)
|
|
|
NM_001283009.2(RTEL1):c.951G>A (p.Lys317=)
|
rs901129251
|
|
NM_001283009.2(RTEL1):c.952C>T (p.Leu318=)
|
|
|
NM_001283009.2(RTEL1):c.957G>A (p.Lys319=)
|
|
|
NM_001283009.2(RTEL1):c.958+12C>T
|
|
|
NM_001283009.2(RTEL1):c.958+14T>C
|
|
|
NM_001283009.2(RTEL1):c.958+15C>A
|
|
|
NM_001283009.2(RTEL1):c.958+16C>T
|
|
|
NM_001283009.2(RTEL1):c.958+19G>A
|
|
|
NM_001283009.2(RTEL1):c.958+20C>T
|
|
|
NM_001283009.2(RTEL1):c.958+2dup
|
rs869312855
|
|
NM_001283009.2(RTEL1):c.958+9T>G
|
rs748577663
|
|
NM_001283009.2(RTEL1):c.958A>G (p.Met320Val)
|
|
|
NM_001283009.2(RTEL1):c.959-13C>T
|
|
|
NM_001283009.2(RTEL1):c.959-17A>G
|
rs374694007
|
|
NM_001283009.2(RTEL1):c.959-17A>T
|
|
|
NM_001283009.2(RTEL1):c.959-5C>G
|
rs2090398159
|
|
NM_001283009.2(RTEL1):c.959-7C>T
|
|
|
NM_001283009.2(RTEL1):c.959-9G>C
|
rs373436285
|
|
NM_001283009.2(RTEL1):c.966G>C (p.Leu322=)
|
rs1168361620
|
|
NM_001283009.2(RTEL1):c.971G>T (p.Arg324Leu)
|
rs113684274
|
|
NM_001283009.2(RTEL1):c.972C>G (p.Arg324=)
|
|
|
NM_001283009.2(RTEL1):c.983C>A (p.Ala328Asp)
|
rs561033103
|
|
NM_001283009.2(RTEL1):c.984del (p.Ile329fs)
|
rs2146211234
|
|
NM_001283009.2(RTEL1):c.985A>G (p.Ile329Val)
|
|
|
NM_001283009.2(RTEL1):c.9G>C (p.Lys3Asn)
|
|
|
NM_001283009.2(RTEL1):c.9del (p.Lys3_Ile4insTer)
|
rs2146141332
|
|
NM_001317778.2(SFTPC):c.-26GAG[1]
|
rs773257848
|
|
NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu)
|
rs183533911
|
|
NM_001317778.2(SFTPC):c.228G>A (p.Pro76=)
|
rs75413490
|
|
NM_001317778.2(SFTPC):c.237G>A (p.Gln79=)
|
rs957889901
|
|
NM_001317778.2(SFTPC):c.316T>C (p.Tyr106His)
|
rs1586421317
|
|
NM_001317778.2(SFTPC):c.351T>G (p.Pro117=)
|
rs35457216
|
|
NM_001317778.2(SFTPC):c.436-15G>A
|
rs374909143
|
|
NM_001317778.2(SFTPC):c.445G>T (p.Ala149Ser)
|
rs202145169
|
|
NM_001317778.2(SFTPC):c.68G>A (p.Arg23Gln)
|
rs75902455
|
|
NM_002429.6(MMP19):c.1155T>A (p.Tyr385Ter)
|
rs1555176616
|
|
NM_002458.3(MUC5B):c.11465C>A (p.Ala3822Asp)
|
|
|
NM_002458.3(MUC5B):c.13164G>T (p.Thr4388=)
|
rs370908099
|
|
NM_002458.3(MUC5B):c.16861G>T (p.Glu5621Ter)
|
|
|
NM_002458.3(MUC5B):c.2041A>G (p.Ser681Gly)
|
rs76956995
|
|
NM_002458.3(MUC5B):c.2045A>G (p.Asp682Gly)
|
rs202127660
|
|
NM_002458.3(MUC5B):c.6874C>T (p.Arg2292Cys)
|
|
|
NM_002458.3(MUC5B):c.7898G>A (p.Trp2633Ter)
|
|
|
NM_002458.3(MUC5B):c.9005C>A (p.Thr3002Lys)
|
rs200554635
|
|
NM_002458.3(MUC5B):c.9339CAC[1] (p.Thr3116del)
|
|
|
NM_002458.3(MUC5B):c.9385C>T (p.Pro3129Ser)
|
rs756422827
|
|
NM_002582.4(PARN):c.1005+10A>G
|
|
|
NM_002582.4(PARN):c.1005+11T>C
|
|
|
NM_002582.4(PARN):c.1005+17A>G
|
rs953216938
|
|
NM_002582.4(PARN):c.1005+2T>A
|
|
|
NM_002582.4(PARN):c.1005+7T>A
|
|
|
NM_002582.4(PARN):c.1005+7T>C
|
|
|
NM_002582.4(PARN):c.1006-15C>A
|
|
|
NM_002582.4(PARN):c.1006-2A>G
|
rs1469272825
|
|
NM_002582.4(PARN):c.1006-8G>A
|
|
|
NM_002582.4(PARN):c.1016ACA[1] (p.Asn340del)
|
rs2151754075
|
|
NM_002582.4(PARN):c.1020C>T (p.Asn340=)
|
|
|
NM_002582.4(PARN):c.1026C>T (p.Ser342=)
|
|
|
NM_002582.4(PARN):c.1036T>C (p.Leu346=)
|
|
|
NM_002582.4(PARN):c.1046G>T (p.Arg349Leu)
|
|
|
NM_002582.4(PARN):c.1048T>G (p.Leu350Val)
|
|
|
NM_002582.4(PARN):c.1052A>C (p.Lys351Thr)
|
|
|
NM_002582.4(PARN):c.1055A>G (p.Glu352Gly)
|
|
|
NM_002582.4(PARN):c.1064del (p.Phe355fs)
|
|
|
NM_002582.4(PARN):c.1069C>A (p.Pro357Thr)
|
rs767096267
|
|
NM_002582.4(PARN):c.1075A>C (p.Lys359Gln)
|
|
|
NM_002582.4(PARN):c.1075A>G (p.Lys359Glu)
|
|
|
NM_002582.4(PARN):c.1078G>T (p.Val360Phe)
|
|
|
NM_002582.4(PARN):c.1079T>C (p.Val360Ala)
|
|
|
NM_002582.4(PARN):c.1081+13A>C
|
|
|
NM_002582.4(PARN):c.1081+14A>G
|
|
|
NM_002582.4(PARN):c.1081+18G>A
|
|
|
NM_002582.4(PARN):c.1081+19A>C
|
rs2151753956
|
|
NM_002582.4(PARN):c.1081+3A>G
|
|
|
NM_002582.4(PARN):c.1082-20T>G
|
|
|
NM_002582.4(PARN):c.1082-6T>C
|
|
|
NM_002582.4(PARN):c.1082-6dup
|
rs763461320
|
|
NM_002582.4(PARN):c.1086T>C (p.Ser362=)
|
|
|
NM_002582.4(PARN):c.1089C>G (p.Ala363=)
|
|
|
NM_002582.4(PARN):c.1089C>T (p.Ala363=)
|
rs776536066
|
|
NM_002582.4(PARN):c.1094G>T (p.Gly365Val)
|
rs1452851028
|
|
NM_002582.4(PARN):c.1109A>G (p.Asp370Gly)
|
|
|
NM_002582.4(PARN):c.1110C>T (p.Asp370=)
|
|
|
NM_002582.4(PARN):c.1123C>T (p.Gln375Ter)
|
rs1380270401
|
|
NM_002582.4(PARN):c.1124_1133del (p.Gln375fs)
|
rs1969578006
|
|
NM_002582.4(PARN):c.112C>T (p.Pro38Ser)
|
rs1972800939
|
|
NM_002582.4(PARN):c.113C>T (p.Pro38Leu)
|
rs1972800795
|
|
NM_002582.4(PARN):c.1142A>G (p.Tyr381Cys)
|
|
|
NM_002582.4(PARN):c.1148C>G (p.Ala383Gly)
|
|
|
NM_002582.4(PARN):c.1149C>G (p.Ala383=)
|
|
|
NM_002582.4(PARN):c.1159G>A (p.Gly387Arg)
|
|
|
NM_002582.4(PARN):c.1161G>A (p.Gly387=)
|
|
|
NM_002582.4(PARN):c.1168T>G (p.Phe390Val)
|
|
|
NM_002582.4(PARN):c.1169T>G (p.Phe390Cys)
|
|
|
NM_002582.4(PARN):c.116C>T (p.Ser39Leu)
|
|
|
NM_002582.4(PARN):c.1172T>C (p.Ile391Thr)
|
|
|
NM_002582.4(PARN):c.1177A>C (p.Met393Leu)
|
|
|
NM_002582.4(PARN):c.1178T>C (p.Met393Thr)
|
|
|
NM_002582.4(PARN):c.1189C>T (p.Leu397=)
|
|
|
NM_002582.4(PARN):c.1192+10A>G
|
|
|
NM_002582.4(PARN):c.1192+12A>G
|
|
|
NM_002582.4(PARN):c.1192+14G>A
|
|
|
NM_002582.4(PARN):c.1192+19T>C
|
|
|
NM_002582.4(PARN):c.1192+5G>A
|
|
|
NM_002582.4(PARN):c.1192+5G>C
|
|
|
NM_002582.4(PARN):c.1192+9T>C
|
|
|
NM_002582.4(PARN):c.1193-10del
|
|
|
NM_002582.4(PARN):c.1193-12T>G
|
|
|
NM_002582.4(PARN):c.1193-14C>A
|
|
|
NM_002582.4(PARN):c.1193-14_1193-12del
|
|
|
NM_002582.4(PARN):c.1193-15T>G
|
|
|
NM_002582.4(PARN):c.1193-16T>C
|
rs1969497587
|
|
NM_002582.4(PARN):c.1193-5A>G
|
|
|
NM_002582.4(PARN):c.1193G>T (p.Gly398Val)
|
rs1447922914
|
|
NM_002582.4(PARN):c.119T>C (p.Val40Ala)
|
|
|
NM_002582.4(PARN):c.1200T>A (p.Phe400Leu)
|
|
|
NM_002582.4(PARN):c.1203C>T (p.Leu401=)
|
rs2151749171
|
|
NM_002582.4(PARN):c.1206C>T (p.Ser402=)
|
|
|
NM_002582.4(PARN):c.1216A>C (p.Ile406Leu)
|
|
|
NM_002582.4(PARN):c.1219C>G (p.His407Asp)
|
rs1596738260
|
|
NM_002582.4(PARN):c.1222G>C (p.Val408Leu)
|
|
|
NM_002582.4(PARN):c.122C>G (p.Ser41Cys)
|
|
|
NM_002582.4(PARN):c.122C>T (p.Ser41Phe)
|
rs1433689115
|
|
NM_002582.4(PARN):c.122_123del (p.Ser41fs)
|
|
|
NM_002582.4(PARN):c.1230C>G (p.Ala410=)
|
|
|
NM_002582.4(PARN):c.1239A>G (p.Lys413=)
|
|
|
NM_002582.4(PARN):c.1242C>T (p.Leu414=)
|
|
|
NM_002582.4(PARN):c.1244T>C (p.Ile415Thr)
|
|
|
NM_002582.4(PARN):c.1249C>A (p.Pro417Thr)
|
|
|
NM_002582.4(PARN):c.1257T>C (p.Phe419=)
|
|
|
NM_002582.4(PARN):c.1257del (p.Phe419fs)
|
rs942538351
|
|
NM_002582.4(PARN):c.125C>T (p.Ala42Val)
|
rs1972799374
|
|
NM_002582.4(PARN):c.1262+19C>G
|
|
|
NM_002582.4(PARN):c.1262+19C>T
|
|
|
NM_002582.4(PARN):c.1262+2T>C
|
|
|
NM_002582.4(PARN):c.1262+3A>G
|
|
|
NM_002582.4(PARN):c.1262+4A>G
|
|
|
NM_002582.4(PARN):c.1262+8A>G
|
|
|
NM_002582.4(PARN):c.1262+9T>G
|
rs1969490324
|
|
NM_002582.4(PARN):c.1263-11_1269del
|
rs2151711045
|
|
NM_002582.4(PARN):c.1263-19T>C
|
|
|
NM_002582.4(PARN):c.1263-1G>A
|
|
|
NM_002582.4(PARN):c.1263-4G>A
|
|
|
NM_002582.4(PARN):c.1263-7C>T
|
rs2151711061
|
|
NM_002582.4(PARN):c.1263-9T>G
|
|
|
NM_002582.4(PARN):c.1279G>A (p.Val427Ile)
|
rs762139840
|
|
NM_002582.4(PARN):c.1282A>G (p.Met428Val)
|
rs1967640251
|
|
NM_002582.4(PARN):c.1297C>A (p.Leu433Ile)
|
rs201782700
|
|
NM_002582.4(PARN):c.1297C>G (p.Leu433Val)
|
rs201782700
|
|
NM_002582.4(PARN):c.1299A>C (p.Leu433=)
|
|
|
NM_002582.4(PARN):c.1317C>G (p.Asp439Glu)
|
rs2151710973
|
|
NM_002582.4(PARN):c.1318+10T>A
|
|
|
NM_002582.4(PARN):c.1318+2T>C
|
|
|
NM_002582.4(PARN):c.1318T>C (p.Leu440=)
|
|
|
NM_002582.4(PARN):c.1319-12T>C
|
|
|
NM_002582.4(PARN):c.1319-15A>G
|
|
|
NM_002582.4(PARN):c.1319-17A>G
|
|
|
NM_002582.4(PARN):c.1319-2_1319del
|
|
|
NM_002582.4(PARN):c.1319-4G>T
|
rs760900593
|
|
NM_002582.4(PARN):c.1319T>C (p.Leu440Ser)
|
rs1967506241
|
|
NM_002582.4(PARN):c.1323G>A (p.Gln441=)
|
|
|
NM_002582.4(PARN):c.1335T>C (p.Asp445=)
|
rs1463679404
|
|
NM_002582.4(PARN):c.1337A>G (p.His446Arg)
|
|
|
NM_002582.4(PARN):c.1338T>C (p.His446=)
|
rs2151708615
|
|
NM_002582.4(PARN):c.1339G>A (p.Val447Ile)
|
|
|
NM_002582.4(PARN):c.1351A>G (p.Thr451Ala)
|
rs984383174
|
|
NM_002582.4(PARN):c.1354T>G (p.Phe452Val)
|
|
|
NM_002582.4(PARN):c.1358C>A (p.Pro453His)
|
rs1967502478
|
|
NM_002582.4(PARN):c.1360A>G (p.Lys454Glu)
|
|
|
NM_002582.4(PARN):c.1363G>T (p.Glu455Ter)
|
|
|
NM_002582.4(PARN):c.1365A>G (p.Glu455=)
|
rs1052939058
|
|
NM_002582.4(PARN):c.136G>A (p.Gly46Ser)
|
|
|
NM_002582.4(PARN):c.1374C>G (p.Thr458=)
|
|
|
NM_002582.4(PARN):c.1374C>T (p.Thr458=)
|
|
|
NM_002582.4(PARN):c.1378G>A (p.Asp460Asn)
|
rs747006604
|
|
NM_002582.4(PARN):c.1385A>G (p.Tyr462Cys)
|
rs1967500569
|
|
NM_002582.4(PARN):c.1396A>T (p.Ser466Cys)
|
|
|
NM_002582.4(PARN):c.139T>A (p.Phe47Ile)
|
|
|
NM_002582.4(PARN):c.1405+10A>C
|
|
|
NM_002582.4(PARN):c.1405+11A>C
|
|
|
NM_002582.4(PARN):c.1405+13T>G
|
|
|
NM_002582.4(PARN):c.1405+17G>C
|
|
|
NM_002582.4(PARN):c.1405+1G>T
|
rs1288345334
|
|
NM_002582.4(PARN):c.1405+8G>C
|
rs373527624
|
|
NM_002582.4(PARN):c.1405+9C>T
|
|
|
NM_002582.4(PARN):c.1406-11T>G
|
|
|
NM_002582.4(PARN):c.1406-18T>G
|
|
|
NM_002582.4(PARN):c.1410C>T (p.Asn470=)
|
|
|
NM_002582.4(PARN):c.1414C>T (p.Gln472Ter)
|
|
|
NM_002582.4(PARN):c.1416G>C (p.Gln472His)
|
|
|
NM_002582.4(PARN):c.1417A>T (p.Ile473Leu)
|
|
|
NM_002582.4(PARN):c.1421C>T (p.Ser474Phe)
|
rs1967339819
|
|
NM_002582.4(PARN):c.1427T>C (p.Ile476Thr)
|
|
|
NM_002582.4(PARN):c.1430A>G (p.Asp477Gly)
|
|
|
NM_002582.4(PARN):c.1433A>G (p.Asp478Gly)
|
|
|
NM_002582.4(PARN):c.1440A>G (p.Ser480=)
|
|
|
NM_002582.4(PARN):c.1456A>G (p.Ser486Gly)
|
|
|
NM_002582.4(PARN):c.145A>G (p.Thr49Ala)
|
|
|
NM_002582.4(PARN):c.1462C>T (p.Pro488Ser)
|
|
|
NM_002582.4(PARN):c.1469A>G (p.Gln490Arg)
|
rs2151705664
|
|
NM_002582.4(PARN):c.146C>T (p.Thr49Ile)
|
|
|
NM_002582.4(PARN):c.1473A>C (p.Val491=)
|
|
|
NM_002582.4(PARN):c.1473A>G (p.Val491=)
|
rs1967336524
|
|
NM_002582.4(PARN):c.1474A>C (p.Lys492Gln)
|
rs759449443
|
|
NM_002582.4(PARN):c.1476G>A (p.Lys492=)
|
|
|
NM_002582.4(PARN):c.1480+13G>A
|
rs2151705615
|
|
NM_002582.4(PARN):c.1481-14del
|
rs748039977
|
|
NM_002582.4(PARN):c.1481-14dup
|
rs748039977
|
|
NM_002582.4(PARN):c.1481-19T>G
|
|
|
NM_002582.4(PARN):c.1481-1G>A
|
|
|
NM_002582.4(PARN):c.1481-2A>G
|
|
|
NM_002582.4(PARN):c.1481-6T>G
|
|
|
NM_002582.4(PARN):c.1481-7C>T
|
|
|
NM_002582.4(PARN):c.1483G>A (p.Val495Ile)
|
|
|
NM_002582.4(PARN):c.1490C>A (p.Thr497Asn)
|
|
|
NM_002582.4(PARN):c.1490C>T (p.Thr497Ile)
|
rs1963456314
|
|
NM_002582.4(PARN):c.1491C>T (p.Thr497=)
|
rs750683123
|
|
NM_002582.4(PARN):c.1502C>T (p.Ala501Val)
|
|
|
NM_002582.4(PARN):c.1511A>G (p.Tyr504Cys)
|
rs1181154287
|
|
NM_002582.4(PARN):c.152A>G (p.Glu51Gly)
|
|
|
NM_002582.4(PARN):c.1530T>G (p.Ala510=)
|
|
|
NM_002582.4(PARN):c.1536del (p.Glu511_Tyr512insTer)
|
|
|
NM_002582.4(PARN):c.1537A>G (p.Met513Val)
|
|
|
NM_002582.4(PARN):c.1539G>A (p.Met513Ile)
|
|
|
NM_002582.4(PARN):c.1544G>T (p.Arg515Ile)
|
|
|
NM_002582.4(PARN):c.1544_1545delinsTT (p.Arg515Ile)
|
rs2151597307
|
|
NM_002582.4(PARN):c.1545A>G (p.Arg515=)
|
rs2151597304
|
|
NM_002582.4(PARN):c.154G>C (p.Glu52Gln)
|
rs2151824669
|
|
NM_002582.4(PARN):c.1559A>G (p.Lys520Arg)
|
|
|
NM_002582.4(PARN):c.156G>C (p.Glu52Asp)
|
|
|
NM_002582.4(PARN):c.1577G>A (p.Trp526Ter)
|
|
|
NM_002582.4(PARN):c.1581T>G (p.Thr527=)
|
rs2151597266
|
|
NM_002582.4(PARN):c.1584A>C (p.Glu528Asp)
|
|
|
NM_002582.4(PARN):c.15_17del (p.Arg5del)
|
|
|
NM_002582.4(PARN):c.1600G>A (p.Ala534Thr)
|
|
|
NM_002582.4(PARN):c.161A>T (p.Tyr54Phe)
|
rs1972795595
|
|
NM_002582.4(PARN):c.1624C>T (p.Gln542Ter)
|
rs745696590
|
|
NM_002582.4(PARN):c.1625A>G (p.Gln542Arg)
|
|
|
NM_002582.4(PARN):c.1627T>C (p.Cys543Arg)
|
rs2151597189
|
|
NM_002582.4(PARN):c.1630A>C (p.Ile544Leu)
|
|
|
NM_002582.4(PARN):c.1635_1643del (p.Tyr546_Leu548del)
|
rs2151597160
|
|
NM_002582.4(PARN):c.1645C>T (p.Gln549Ter)
|
|
|
NM_002582.4(PARN):c.1650T>A (p.Asn550Lys)
|
rs1368350204
|
|
NM_002582.4(PARN):c.1652A>C (p.His551Pro)
|
rs2151597154
|
|
NM_002582.4(PARN):c.1654T>C (p.Tyr552His)
|
rs965806129
|
|
NM_002582.4(PARN):c.1659C>T (p.Tyr553=)
|
|
|
NM_002582.4(PARN):c.1661G>A (p.Arg554His)
|
rs372489171
|
|
NM_002582.4(PARN):c.1661G>T (p.Arg554Leu)
|
rs372489171
|
|
NM_002582.4(PARN):c.1667A>G (p.Asn556Ser)
|
|
|
NM_002582.4(PARN):c.1668T>C (p.Asn556=)
|
|
|
NM_002582.4(PARN):c.1670+12C>T
|
|
|
NM_002582.4(PARN):c.1670+13A>G
|
rs2151597090
|
|
NM_002582.4(PARN):c.1670+17G>A
|
|
|
NM_002582.4(PARN):c.1670+17G>T
|
rs116427010
|
|
NM_002582.4(PARN):c.1670+1G>T
|
rs1963445391
|
|
NM_002582.4(PARN):c.1670+20A>G
|
|
|
NM_002582.4(PARN):c.1670+5G>C
|
|
|
NM_002582.4(PARN):c.1671-17C>T
|
|
|
NM_002582.4(PARN):c.1671-18C>T
|
|
|
NM_002582.4(PARN):c.1671-1G>T
|
|
|
NM_002582.4(PARN):c.1673T>G (p.Phe558Cys)
|
|
|
NM_002582.4(PARN):c.1674T>C (p.Phe558=)
|
rs2151557113
|
|
NM_002582.4(PARN):c.1678G>A (p.Ala560Thr)
|
|
|
NM_002582.4(PARN):c.1684A>G (p.Ser562Gly)
|
|
|
NM_002582.4(PARN):c.1692A>G (p.Val564=)
|
rs1596433626
|
|
NM_002582.4(PARN):c.1697A>G (p.Lys566Arg)
|
rs1567284498
|
|
NM_002582.4(PARN):c.169C>T (p.Leu57Phe)
|
|
|
NM_002582.4(PARN):c.1700G>A (p.Arg567Lys)
|
|
|
NM_002582.4(PARN):c.1702A>G (p.Asn568Asp)
|
|
|
NM_002582.4(PARN):c.1707G>T (p.Leu569Phe)
|
|
|
NM_002582.4(PARN):c.170T>C (p.Leu57Pro)
|
rs2151824639
|
|
NM_002582.4(PARN):c.1715G>A (p.Ser572Asn)
|
rs1024969576
|
|
NM_002582.4(PARN):c.1719A>G (p.Gln573=)
|
|
|
NM_002582.4(PARN):c.1727C>G (p.Ala576Gly)
|
|
|
NM_002582.4(PARN):c.1740C>T (p.Asp580=)
|
|
|
NM_002582.4(PARN):c.1750G>A (p.Gly584Arg)
|
|
|
NM_002582.4(PARN):c.1751G>A (p.Gly584Glu)
|
rs1961230542
|
|
NM_002582.4(PARN):c.1762G>A (p.Asp588Asn)
|
|
|
NM_002582.4(PARN):c.1762G>T (p.Asp588Tyr)
|
rs750247455
|
|
NM_002582.4(PARN):c.1764C>T (p.Asp588=)
|
|
|
NM_002582.4(PARN):c.177+11G>A
|
|
|
NM_002582.4(PARN):c.177+15T>C
|
|
|
NM_002582.4(PARN):c.177+1G>A
|
|
|
NM_002582.4(PARN):c.177+1del
|
|
|
NM_002582.4(PARN):c.177+9A>G
|
|
|
NM_002582.4(PARN):c.1773T>C (p.Leu591=)
|
|
|
NM_002582.4(PARN):c.1779G>T (p.Gln593His)
|
|
|
NM_002582.4(PARN):c.178-17T>A
|
|
|
NM_002582.4(PARN):c.178-5T>G
|
rs1972739623
|
|
NM_002582.4(PARN):c.1781C>A (p.Thr594Asn)
|
|
|
NM_002582.4(PARN):c.1782C>G (p.Thr594=)
|
rs187555579
|
|
NM_002582.4(PARN):c.1783G>A (p.Asp595Asn)
|
|
|
NM_002582.4(PARN):c.1787C>T (p.Ser596Phe)
|
|
|
NM_002582.4(PARN):c.1789T>C (p.Cys597Arg)
|
rs1596433239
|
|
NM_002582.4(PARN):c.1796A>G (p.Glu599Gly)
|
rs2151556910
|
|
NM_002582.4(PARN):c.1806A>T (p.Ser602=)
|
rs2151556891
|
|
NM_002582.4(PARN):c.1817A>G (p.Lys606Arg)
|
|
|
NM_002582.4(PARN):c.1818A>G (p.Lys606=)
|
rs1331268805
|
|
NM_002582.4(PARN):c.1838G>A (p.Arg613Lys)
|
|
|
NM_002582.4(PARN):c.1840A>G (p.Met614Val)
|
|
|
NM_002582.4(PARN):c.1841T>C (p.Met614Thr)
|
rs1961224273
|
|
NM_002582.4(PARN):c.1843AAG[3] (p.Lys616dup)
|
rs1961223739
|
|
NM_002582.4(PARN):c.184A>G (p.Met62Val)
|
rs756788280
|
|
NM_002582.4(PARN):c.1850A>T (p.Glu617Val)
|
rs1340012887
|
|
NM_002582.4(PARN):c.1851G>A (p.Glu617=)
|
rs1961223168
|
|
NM_002582.4(PARN):c.1858C>T (p.Pro620Ser)
|
|
|
NM_002582.4(PARN):c.1864+11G>C
|
|
|
NM_002582.4(PARN):c.1864+12A>T
|
|
|
NM_002582.4(PARN):c.1864+14C>T
|
|
|
NM_002582.4(PARN):c.1864+19C>G
|
|
|
NM_002582.4(PARN):c.1864+20G>A
|
|
|
NM_002582.4(PARN):c.1864+20G>C
|
|
|
NM_002582.4(PARN):c.1864+5G>T
|
|
|
NM_002582.4(PARN):c.1864+9T>C
|
rs2151556782
|
|
NM_002582.4(PARN):c.1865-6C>G
|
|
|
NM_002582.4(PARN):c.1865-9del
|
|
|
NM_002582.4(PARN):c.1865G>A (p.Gly622Glu)
|
rs1567278518
|
|
NM_002582.4(PARN):c.1875G>A (p.Ser625=)
|
rs370090572
|
|
NM_002582.4(PARN):c.1875G>C (p.Ser625=)
|
|
|
NM_002582.4(PARN):c.1878G>T (p.Lys626Asn)
|
|
|
NM_002582.4(PARN):c.1881C>A (p.Asn627Lys)
|
|
|
NM_002582.4(PARN):c.1881C>G (p.Asn627Lys)
|
|
|
NM_002582.4(PARN):c.1892C>G (p.Thr631Arg)
|
|
|
NM_002582.4(PARN):c.1895T>G (p.Leu632Arg)
|
|
|
NM_002582.4(PARN):c.189C>G (p.Asp63Glu)
|
|
|
NM_002582.4(PARN):c.18C>G (p.Ser6Arg)
|
|
|
NM_002582.4(PARN):c.19+11G>A
|
|
|
NM_002582.4(PARN):c.19+14_19+28del
|
rs2151827636
|
|
NM_002582.4(PARN):c.19+20C>G
|
|
|
NM_002582.4(PARN):c.19+3G>A
|
|
|
NM_002582.4(PARN):c.1900G>A (p.Glu634Lys)
|
|
|
NM_002582.4(PARN):c.1911C>A (p.Asp637Glu)
|
|
|
NM_002582.4(PARN):c.1915T>C (p.Trp639Arg)
|
|
|
NM_002582.4(PARN):c.1916G>A (p.Trp639Ter)
|
rs1960716266
|
|
NM_002582.4(PARN):c.192T>G (p.Phe64Leu)
|
|
|
NM_002582.4(PARN):c.193T>A (p.Leu65Met)
|
|
|
NM_002582.4(PARN):c.198A>C (p.Leu66=)
|
|
|
NM_002582.4(PARN):c.198A>G (p.Leu66=)
|
|
|
NM_002582.4(PARN):c.20-10T>A
|
rs1972909220
|
|
NM_002582.4(PARN):c.20-14C>T
|
rs996455976
|
|
NM_002582.4(PARN):c.20-16T>G
|
|
|
NM_002582.4(PARN):c.20-19C>T
|
|
|
NM_002582.4(PARN):c.20-20T>A
|
|
|
NM_002582.4(PARN):c.20-20T>C
|
rs2151826943
|
|
NM_002582.4(PARN):c.20-5C>T
|
|
|
NM_002582.4(PARN):c.20-8C>T
|
rs747888634
|
|
NM_002582.4(PARN):c.201T>G (p.Phe67Leu)
|
|
|
NM_002582.4(PARN):c.204G>A (p.Gln68=)
|
|
|
NM_002582.4(PARN):c.20A>C (p.Asn7Thr)
|
|
|
NM_002582.4(PARN):c.210C>A (p.Gly70=)
|
rs748166497
|
|
NM_002582.4(PARN):c.218C>T (p.Thr73Ile)
|
rs2151823476
|
|
NM_002582.4(PARN):c.227A>G (p.Tyr76Cys)
|
rs752306700
|
|
NM_002582.4(PARN):c.233A>G (p.Tyr78Cys)
|
|
|
NM_002582.4(PARN):c.242C>T (p.Ser81Leu)
|
|
|
NM_002582.4(PARN):c.243A>G (p.Ser81=)
|
|
|
NM_002582.4(PARN):c.245+10_245+34del
|
|
|
NM_002582.4(PARN):c.245+15C>G
|
|
|
NM_002582.4(PARN):c.245+20G>A
|
rs377105548
|
|
NM_002582.4(PARN):c.245+20G>T
|
rs377105548
|
|
NM_002582.4(PARN):c.245+3A>G
|
|
|
NM_002582.4(PARN):c.245+8G>T
|
|
|
NM_002582.4(PARN):c.246-2A>G
|
rs751381953
|
|
NM_002582.4(PARN):c.246-4C>A
|
|
|
NM_002582.4(PARN):c.246-4C>G
|
|
|
NM_002582.4(PARN):c.246-5C>T
|
|
|
NM_002582.4(PARN):c.246-6T>C
|
|
|
NM_002582.4(PARN):c.246-8T>C
|
|
|
NM_002582.4(PARN):c.249T>C (p.Tyr83=)
|
|
|
NM_002582.4(PARN):c.24dup (p.Lys9Ter)
|
|
|
NM_002582.4(PARN):c.254C>G (p.Thr85Arg)
|
|
|
NM_002582.4(PARN):c.254C>T (p.Thr85Met)
|
|
|
NM_002582.4(PARN):c.255G>A (p.Thr85=)
|
|
|
NM_002582.4(PARN):c.259T>G (p.Ser87Ala)
|
|
|
NM_002582.4(PARN):c.270C>T (p.Phe90=)
|
|
|
NM_002582.4(PARN):c.272A>T (p.Tyr91Phe)
|
rs201765587
|
|
NM_002582.4(PARN):c.278T>C (p.Phe93Ser)
|
|
|
NM_002582.4(PARN):c.288C>T (p.Pro96=)
|
rs2151823197
|
|
NM_002582.4(PARN):c.293A>G (p.Asn98Ser)
|
|
|
NM_002582.4(PARN):c.294T>C (p.Asn98=)
|
|
|
NM_002582.4(PARN):c.296G>C (p.Arg99Thr)
|
|
|
NM_002582.4(PARN):c.298T>A (p.Ser100Thr)
|
|
|
NM_002582.4(PARN):c.299C>A (p.Ser100Tyr)
|
rs759622779
|
|
NM_002582.4(PARN):c.305dup (p.Asp103fs)
|
|
|
NM_002582.4(PARN):c.306A>G (p.Pro102=)
|
rs774805226
|
|
NM_002582.4(PARN):c.308A>T (p.Asp103Val)
|
|
|
NM_002582.4(PARN):c.314A>G (p.Lys105Arg)
|
|
|
NM_002582.4(PARN):c.319G>A (p.Val107Ile)
|
rs1338274189
|
|
NM_002582.4(PARN):c.323G>T (p.Cys108Phe)
|
|
|
NM_002582.4(PARN):c.327+15T>C
|
|
|
NM_002582.4(PARN):c.327+2T>G
|
|
|
NM_002582.4(PARN):c.327+3A>C
|
|
|
NM_002582.4(PARN):c.328-10T>C
|
rs2151808861
|
|
NM_002582.4(PARN):c.328-17T>G
|
|
|
NM_002582.4(PARN):c.328-2A>G
|
|
|
NM_002582.4(PARN):c.32A>G (p.Asn11Ser)
|
|
|
NM_002582.4(PARN):c.336C>A (p.Ser112Arg)
|
|
|
NM_002582.4(PARN):c.338T>A (p.Ile113Asn)
|
rs376765477
|
|
NM_002582.4(PARN):c.338T>C (p.Ile113Thr)
|
|
|
NM_002582.4(PARN):c.351A>C (p.Ala117=)
|
|
|
NM_002582.4(PARN):c.351_352dup (p.Ser118fs)
|
|
|
NM_002582.4(PARN):c.358G>A (p.Gly120Arg)
|
rs1596886075
|
|
NM_002582.4(PARN):c.35T>A (p.Leu12His)
|
|
|
NM_002582.4(PARN):c.364G>A (p.Asp122Asn)
|
|
|
NM_002582.4(PARN):c.364G>C (p.Asp122His)
|
rs779555557
|
|
NM_002582.4(PARN):c.37C>T (p.His13Tyr)
|
|
|
NM_002582.4(PARN):c.388+11G>A
|
|
|
NM_002582.4(PARN):c.388+13G>A
|
rs781377090
|
|
NM_002582.4(PARN):c.388+20A>G
|
|
|
NM_002582.4(PARN):c.388+6A>T
|
|
|
NM_002582.4(PARN):c.388+8T>A
|
|
|
NM_002582.4(PARN):c.388G>A (p.Gly130Arg)
|
|
|
NM_002582.4(PARN):c.389-13A>C
|
|
|
NM_002582.4(PARN):c.389-15T>A
|
|
|
NM_002582.4(PARN):c.389-19T>C
|
rs768266740
|
|
NM_002582.4(PARN):c.389-9C>T
|
rs1467886184
|
|
NM_002582.4(PARN):c.391A>G (p.Ile131Val)
|
|
|
NM_002582.4(PARN):c.392T>A (p.Ile131Asn)
|
|
|
NM_002582.4(PARN):c.394C>G (p.Pro132Ala)
|
|
|
NM_002582.4(PARN):c.396A>G (p.Pro132=)
|
rs1971479823
|
|
NM_002582.4(PARN):c.39C>G (p.His13Gln)
|
rs2151826881
|
|
NM_002582.4(PARN):c.403A>G (p.Asn135Asp)
|
|
|
NM_002582.4(PARN):c.405T>C (p.Asn135=)
|
|
|
NM_002582.4(PARN):c.417_420del (p.Glu139fs)
|
rs2151797695
|
|
NM_002582.4(PARN):c.418A>G (p.Arg140Gly)
|
rs778885248
|
|
NM_002582.4(PARN):c.434A>C (p.Gln145Pro)
|
rs1195236338
|
|
NM_002582.4(PARN):c.444A>G (p.Glu148=)
|
|
|
NM_002582.4(PARN):c.459G>C (p.Ala153=)
|
rs960463679
|
|
NM_002582.4(PARN):c.465T>C (p.Gly155=)
|
rs1555508032
|
|
NM_002582.4(PARN):c.466G>A (p.Ala156Thr)
|
|
|
NM_002582.4(PARN):c.467C>T (p.Ala156Val)
|
rs1341620972
|
|
NM_002582.4(PARN):c.468A>G (p.Ala156=)
|
|
|
NM_002582.4(PARN):c.470G>A (p.Gly157Glu)
|
|
|
NM_002582.4(PARN):c.471A>C (p.Gly157=)
|
|
|
NM_002582.4(PARN):c.473C>G (p.Ala158Gly)
|
|
|
NM_002582.4(PARN):c.47A>G (p.Tyr16Cys)
|
|
|
NM_002582.4(PARN):c.480C>T (p.Ser160=)
|
rs2151797611
|
|
NM_002582.4(PARN):c.495C>T (p.Asn165=)
|
|
|
NM_002582.4(PARN):c.504A>G (p.Lys168=)
|
|
|
NM_002582.4(PARN):c.512T>C (p.Val171Ala)
|
|
|
NM_002582.4(PARN):c.514A>C (p.Thr172Pro)
|
|
|
NM_002582.4(PARN):c.51G>C (p.Gln17His)
|
|
|
NM_002582.4(PARN):c.520C>A (p.Pro174Thr)
|
|
|
NM_002582.4(PARN):c.523G>A (p.Glu175Lys)
|
|
|
NM_002582.4(PARN):c.529C>T (p.Gln177Ter)
|
rs876661305
|
|
NM_002582.4(PARN):c.543T>G (p.Ile181Met)
|
|
|
NM_002582.4(PARN):c.546C>T (p.Asp182=)
|
|
|
NM_002582.4(PARN):c.54C>T (p.Ala18=)
|
rs2151826842
|
|
NM_002582.4(PARN):c.550G>A (p.Val184Met)
|
|
|
NM_002582.4(PARN):c.551T>G (p.Val184Gly)
|
|
|
NM_002582.4(PARN):c.554+19A>G
|
rs1971468748
|
|
NM_002582.4(PARN):c.554+20C>T
|
|
|
NM_002582.4(PARN):c.554T>C (p.Val185Ala)
|
|
|
NM_002582.4(PARN):c.555-14T>C
|
rs2151795461
|
|
NM_002582.4(PARN):c.555-16T>A
|
|
|
NM_002582.4(PARN):c.555-17C>G
|
|
|
NM_002582.4(PARN):c.555-2A>G
|
rs2151795442
|
|
NM_002582.4(PARN):c.555-3C>T
|
|
|
NM_002582.4(PARN):c.555-6C>T
|
|
|
NM_002582.4(PARN):c.563dup (p.Glu189fs)
|
rs878853260
|
|
NM_002582.4(PARN):c.566A>G (p.Glu189Gly)
|
|
|
NM_002582.4(PARN):c.569A>G (p.Asp190Gly)
|
rs769599205
|
|
NM_002582.4(PARN):c.57A>G (p.Ile19Met)
|
rs1972904968
|
|
NM_002582.4(PARN):c.587A>C (p.Glu196Ala)
|
|
|
NM_002582.4(PARN):c.591C>T (p.Asn197=)
|
|
|
NM_002582.4(PARN):c.59A>G (p.Glu20Gly)
|
rs2151826832
|
|
NM_002582.4(PARN):c.600G>C (p.Leu200Phe)
|
|
|
NM_002582.4(PARN):c.606A>G (p.Leu202=)
|
|
|
NM_002582.4(PARN):c.612A>G (p.Pro204=)
|
|
|
NM_002582.4(PARN):c.616A>G (p.Thr206Ala)
|
|
|
NM_002582.4(PARN):c.620+15A>G
|
|
|
NM_002582.4(PARN):c.620+16C>T
|
|
|
NM_002582.4(PARN):c.620+3_620+4delinsAG
|
rs1971361914
|
|
NM_002582.4(PARN):c.620+5G>A
|
rs1971361795
|
|
NM_002582.4(PARN):c.620+9T>C
|
|
|
NM_002582.4(PARN):c.621-11T>C
|
|
|
NM_002582.4(PARN):c.621-22_621-18del
|
rs2151794051
|
|
NM_002582.4(PARN):c.621-4A>G
|
rs2151794031
|
|
NM_002582.4(PARN):c.621-9T>C
|
|
|
NM_002582.4(PARN):c.621G>T (p.Gly207=)
|
rs964560089
|
|
NM_002582.4(PARN):c.625C>G (p.Gln209Glu)
|
rs190870967
|
|
NM_002582.4(PARN):c.628A>G (p.Arg210Gly)
|
|
|
NM_002582.4(PARN):c.634del (p.Lys211_Leu212insTer)
|
|
|
NM_002582.4(PARN):c.635T>C (p.Leu212Pro)
|
|
|
NM_002582.4(PARN):c.639T>C (p.Ile213=)
|
|
|
NM_002582.4(PARN):c.643C>T (p.Gln215Ter)
|
|
|
NM_002582.4(PARN):c.644A>G (p.Gln215Arg)
|
|
|
NM_002582.4(PARN):c.655T>G (p.Trp219Gly)
|
rs1971316192
|
|
NM_002582.4(PARN):c.659+12T>C
|
rs2151793951
|
|
NM_002582.4(PARN):c.659+18A>T
|
|
|
NM_002582.4(PARN):c.659+2dup
|
|
|
NM_002582.4(PARN):c.659+4_659+7del
|
rs759131762
|
|
NM_002582.4(PARN):c.660-10T>C
|
|
|
NM_002582.4(PARN):c.660-11C>G
|
|
|
NM_002582.4(PARN):c.660-3dup
|
|
|
NM_002582.4(PARN):c.660-9T>G
|
|
|
NM_002582.4(PARN):c.662A>G (p.Tyr221Cys)
|
|
|
NM_002582.4(PARN):c.664C>G (p.Pro222Ala)
|
rs1971195178
|
|
NM_002582.4(PARN):c.665C>G (p.Pro222Arg)
|
rs770353163
|
|
NM_002582.4(PARN):c.666G>A (p.Pro222=)
|
|
|
NM_002582.4(PARN):c.666G>C (p.Pro222=)
|
rs186335640
|
|
NM_002582.4(PARN):c.666G>T (p.Pro222=)
|
rs186335640
|
|
NM_002582.4(PARN):c.669A>G (p.Lys223=)
|
|
|
NM_002582.4(PARN):c.671G>A (p.Gly224Asp)
|
|
|
NM_002582.4(PARN):c.684G>A (p.Glu228=)
|
|
|
NM_002582.4(PARN):c.689T>C (p.Leu230Ser)
|
|
|
NM_002582.4(PARN):c.697G>A (p.Glu233Lys)
|
|
|
NM_002582.4(PARN):c.702+10A>G
|
|
|
NM_002582.4(PARN):c.702+13A>G
|
|
|
NM_002582.4(PARN):c.702+17T>C
|
|
|
NM_002582.4(PARN):c.702+18C>G
|
|
|
NM_002582.4(PARN):c.702+20A>G
|
|
|
NM_002582.4(PARN):c.703-11_703-10del
|
rs1185087862
|
|
NM_002582.4(PARN):c.703-15C>T
|
|
|
NM_002582.4(PARN):c.703-18C>G
|
|
|
NM_002582.4(PARN):c.703-3dup
|
|
|
NM_002582.4(PARN):c.703-7C>G
|
|
|
NM_002582.4(PARN):c.707A>G (p.Glu236Gly)
|
|
|
NM_002582.4(PARN):c.707A>T (p.Glu236Val)
|
|
|
NM_002582.4(PARN):c.709C>T (p.Arg237Ter)
|
rs760506977
|
|
NM_002582.4(PARN):c.70T>C (p.Phe24Leu)
|
|
|
NM_002582.4(PARN):c.712T>C (p.Tyr238His)
|
rs1330990528
|
|
NM_002582.4(PARN):c.713dup (p.Tyr238Ter)
|
rs1971048225
|
|
NM_002582.4(PARN):c.714T>C (p.Tyr238=)
|
rs1281930960
|
|
NM_002582.4(PARN):c.714del (p.Arg237_Tyr238insTer)
|
|
|
NM_002582.4(PARN):c.715A>G (p.Ile239Val)
|
|
|
NM_002582.4(PARN):c.718G>A (p.Val240Ile)
|
|
|
NM_002582.4(PARN):c.718G>C (p.Val240Leu)
|
|
|
NM_002582.4(PARN):c.723C>T (p.Ile241=)
|
|
|
NM_002582.4(PARN):c.724A>G (p.Ser242Gly)
|
rs2151787480
|
|
NM_002582.4(PARN):c.726C>T (p.Ser242=)
|
|
|
NM_002582.4(PARN):c.729A>C (p.Lys243Asn)
|
rs1172901128
|
|
NM_002582.4(PARN):c.72C>T (p.Phe24=)
|
|
|
NM_002582.4(PARN):c.734A>G (p.Asp245Gly)
|
|
|
NM_002582.4(PARN):c.736G>A (p.Glu246Lys)
|
|
|
NM_002582.4(PARN):c.736GAA[2] (p.Glu248del)
|
|
|
NM_002582.4(PARN):c.746G>C (p.Arg249Pro)
|
|
|
NM_002582.4(PARN):c.748A>C (p.Lys250Gln)
|
|
|
NM_002582.4(PARN):c.749A>G (p.Lys250Arg)
|
|
|
NM_002582.4(PARN):c.751A>G (p.Arg251Gly)
|
|
|
NM_002582.4(PARN):c.755G>A (p.Arg252Lys)
|
|
|
NM_002582.4(PARN):c.755G>C (p.Arg252Thr)
|
|
|
NM_002582.4(PARN):c.758_759del (p.Glu253fs)
|
rs2151787383
|
|
NM_002582.4(PARN):c.75C>T (p.Phe25=)
|
|
|
NM_002582.4(PARN):c.761A>T (p.Gln254Leu)
|
|
|
NM_002582.4(PARN):c.762G>A (p.Gln254=)
|
|
|
NM_002582.4(PARN):c.782A>G (p.Gln261Arg)
|
|
|
NM_002582.4(PARN):c.783+11T>C
|
|
|
NM_002582.4(PARN):c.783+15T>C
|
rs2151787317
|
|
NM_002582.4(PARN):c.783+4A>C
|
|
|
NM_002582.4(PARN):c.783+4A>T
|
rs1317955775
|
|
NM_002582.4(PARN):c.783+5T>C
|
rs2151787329
|
|
NM_002582.4(PARN):c.783+9G>T
|
|
|
NM_002582.4(PARN):c.783G>A (p.Gln261=)
|
rs1261797823
|
|
NM_002582.4(PARN):c.784-14del
|
|
|
NM_002582.4(PARN):c.784-16A>T
|
|
|
NM_002582.4(PARN):c.784-170_840+174del
|
rs1970760757
|
|
NM_002582.4(PARN):c.784-19T>C
|
rs867919377
|
|
NM_002582.4(PARN):c.784-1G>A
|
|
|
NM_002582.4(PARN):c.787G>C (p.Glu263Gln)
|
|
|
NM_002582.4(PARN):c.787_788delinsTT (p.Glu263Leu)
|
|
|
NM_002582.4(PARN):c.790C>G (p.Leu264Val)
|
|
|
NM_002582.4(PARN):c.7A>G (p.Ile3Val)
|
rs1567474981
|
|
NM_002582.4(PARN):c.804G>C (p.Val268=)
|
rs2151779883
|
|
NM_002582.4(PARN):c.823C>G (p.His275Asp)
|
|
|
NM_002582.4(PARN):c.826G>A (p.Ala276Thr)
|
|
|
NM_002582.4(PARN):c.830T>G (p.Ile277Ser)
|
|
|
NM_002582.4(PARN):c.839C>T (p.Ser280Leu)
|
rs774827522
|
|
NM_002582.4(PARN):c.840+16T>C
|
|
|
NM_002582.4(PARN):c.840+8A>C
|
|
|
NM_002582.4(PARN):c.841-17A>C
|
|
|
NM_002582.4(PARN):c.841-2A>G
|
rs2151767204
|
|
NM_002582.4(PARN):c.841-3T>A
|
|
|
NM_002582.4(PARN):c.841-7T>G
|
|
|
NM_002582.4(PARN):c.841-8T>G
|
|
|
NM_002582.4(PARN):c.842G>A (p.Gly281Glu)
|
|
|
NM_002582.4(PARN):c.851T>G (p.Val284Gly)
|
|
|
NM_002582.4(PARN):c.854T>C (p.Ile285Thr)
|
rs1970312112
|
|
NM_002582.4(PARN):c.865A>G (p.Met289Val)
|
|
|
NM_002582.4(PARN):c.866T>C (p.Met289Thr)
|
|
|
NM_002582.4(PARN):c.867G>A (p.Met289Ile)
|
|
|
NM_002582.4(PARN):c.872T>G (p.Leu291Trp)
|
|
|
NM_002582.4(PARN):c.889G>A (p.Val297Ile)
|
|
|
NM_002582.4(PARN):c.904T>C (p.Cys302Arg)
|
|
|
NM_002582.4(PARN):c.908C>G (p.Pro303Arg)
|
rs1211898404
|
|
NM_002582.4(PARN):c.909T>C (p.Pro303=)
|
|
|
NM_002582.4(PARN):c.910C>G (p.Leu304Val)
|
|
|
NM_002582.4(PARN):c.912G>A (p.Leu304=)
|
rs1970307733
|
|
NM_002582.4(PARN):c.912G>C (p.Leu304=)
|
|
|
NM_002582.4(PARN):c.918+12G>T
|
rs767639160
|
|
NM_002582.4(PARN):c.918+15G>A
|
|
|
NM_002582.4(PARN):c.918+4A>G
|
|
|
NM_002582.4(PARN):c.918+9C>T
|
|
|
NM_002582.4(PARN):c.918G>A (p.Ala306=)
|
rs2151767064
|
|
NM_002582.4(PARN):c.919-20G>A
|
|
|
NM_002582.4(PARN):c.919-3T>C
|
rs2151757180
|
|
NM_002582.4(PARN):c.919-5T>A
|
rs1969855483
|
|
NM_002582.4(PARN):c.919-6C>G
|
|
|
NM_002582.4(PARN):c.919-9G>C
|
|
|
NM_002582.4(PARN):c.919G>A (p.Asp307Asn)
|
rs755489002
|
|
NM_002582.4(PARN):c.924A>C (p.Leu308Phe)
|
rs1336426171
|
|
NM_002582.4(PARN):c.925del (p.Ser309fs)
|
|
|
NM_002582.4(PARN):c.927T>C (p.Ser309=)
|
rs2151757158
|
|
NM_002582.4(PARN):c.930G>A (p.Glu310=)
|
rs1596758654
|
|
NM_002582.4(PARN):c.937G>A (p.Glu313Lys)
|
rs2151757148
|
|
NM_002582.4(PARN):c.952G>A (p.Val318Ile)
|
|
|
NM_002582.4(PARN):c.962+12T>A
|
|
|
NM_002582.4(PARN):c.962+16G>C
|
rs1424080800
|
|
NM_002582.4(PARN):c.962+9T>C
|
|
|
NM_002582.4(PARN):c.963-11del
|
rs756034248
|
|
NM_002582.4(PARN):c.963-18G>A
|
|
|
NM_002582.4(PARN):c.963-19_963-3del
|
rs752630850
|
|
NM_002582.4(PARN):c.966C>T (p.Leu322=)
|
rs763666862
|
|
NM_002582.4(PARN):c.97+16A>T
|
|
|
NM_002582.4(PARN):c.97+2T>C
|
|
|
NM_002582.4(PARN):c.97+7del
|
|
|
NM_002582.4(PARN):c.97+9C>G
|
rs746984542
|
|
NM_002582.4(PARN):c.97+9C>T
|
rs746984542
|
|
NM_002582.4(PARN):c.97+9_97+12del
|
rs1277830010
|
|
NM_002582.4(PARN):c.973A>G (p.Thr325Ala)
|
|
|
NM_002582.4(PARN):c.98-12C>G
|
rs2151824794
|
|
NM_002582.4(PARN):c.98-14T>C
|
|
|
NM_002582.4(PARN):c.98-5T>A
|
|
|
NM_002582.4(PARN):c.980T>C (p.Leu327Ser)
|
|
|
NM_002582.4(PARN):c.988A>G (p.Ser330Gly)
|
|
|
NM_002582.4(PARN):c.991A>G (p.Thr331Ala)
|
|
|
NM_002582.4(PARN):c.993A>G (p.Thr331=)
|
rs2151754690
|
|
NM_002582.4(PARN):c.994C>T (p.Gln332Ter)
|
|
|
NM_002582.4(PARN):c.997C>A (p.Pro333Thr)
|
|
|
NM_002582.4(PARN):c.9A>T (p.Ile3=)
|
rs1359611593
|
|
NM_003018.3(SFTPC):c.-67C>T
|
rs377267823
|
|
NM_005094.4(SLC27A4):c.1065del (p.Arg356fs)
|
rs777972512
|
|
NM_005094.4(SLC27A4):c.1208G>A (p.Cys403Tyr)
|
rs2131266064
|
|
NM_005094.4(SLC27A4):c.1259G>A (p.Arg420His)
|
|
|
NM_005094.4(SLC27A4):c.1322dup (p.Gly442fs)
|
rs746178942
|
|
NM_005094.4(SLC27A4):c.1413G>C (p.Lys471Asn)
|
|
|
NM_005094.4(SLC27A4):c.1430T>A (p.Val477Asp)
|
|
|
NM_005094.4(SLC27A4):c.1447C>T (p.Gln483Ter)
|
rs1340721389
|
|
NM_005094.4(SLC27A4):c.1510C>T (p.Arg504Cys)
|
|
|
NM_005094.4(SLC27A4):c.1511G>T (p.Arg504Leu)
|
rs776594920
|
|
NM_005094.4(SLC27A4):c.1529G>A (p.Arg510His)
|
rs764219842
|
|
NM_005094.4(SLC27A4):c.1579dup (p.Arg527fs)
|
|
|
NM_005094.4(SLC27A4):c.1628-1G>A
|
|
|
NM_005094.4(SLC27A4):c.1645G>A (p.Gly549Arg)
|
|
|
NM_005094.4(SLC27A4):c.166G>A (p.Gly56Ser)
|
|
|
NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs)
|
rs758657421
|
|
NM_005094.4(SLC27A4):c.199C>T (p.Arg67Ter)
|
|
|
NM_005094.4(SLC27A4):c.1A>G (p.Met1Val)
|
|
|
NM_005094.4(SLC27A4):c.274G>A (p.Ala92Thr)
|
rs137853132
|
|
NM_005094.4(SLC27A4):c.28dup (p.Val10fs)
|
|
|
NM_005094.4(SLC27A4):c.716-1G>A
|
rs1588559786
|
|
NM_005094.4(SLC27A4):c.786-2A>G
|
|
|
NM_005094.4(SLC27A4):c.839A>T (p.Asp280Val)
|
|
|
NM_005094.4(SLC27A4):c.868C>T (p.His290Tyr)
|
|
|
NM_005094.4(SLC27A4):c.871_877+19del
|
|
|
NM_005094.4(SLC27A4):c.898C>T (p.Gln300Ter)
|
|
|
NM_005094.4(SLC27A4):c.986C>T (p.Thr329Met)
|
rs760194495
|
|
NM_005094.4(SLC27A4):c.988-19A>G
|
rs2131265398
|
|
NM_005094.4(SLC27A4):c.988-2A>G
|
rs764922350
|
|
NM_005411.5(SFTPA1):c.656G>T (p.Arg219Leu)
|
|
|
NM_022081.6(HPS4):c.1102dup (p.Asp368fs)
|
rs1555898206
|
|
NM_025099.6(CTC1):c.400dup (p.Tyr134fs)
|
rs1555535288
|
|
NM_032122.5(DTNBP1):c.286G>T (p.Glu96Ter)
|
rs1415761555
|
|
NM_032957.4(RTEL1):c.1346T>C
|
rs863224915
|
|
NM_198129.4(LAMA3):c.2116C>T (p.Arg706Ter)
|
rs759225610
|
|
NM_198253.3(TERT):c.*6_*182del
|
rs199422308
|
|
NM_198253.3(TERT):c.-57A>G
|
rs878855297
|
|
NM_198253.3(TERT):c.-57A>T
|
|
|
NM_198253.3(TERT):c.-57del
|
rs1751310344
|
|
NM_198253.3(TERT):c.1001C>T (p.Ser334Phe)
|
|
|
NM_198253.3(TERT):c.1002C>G (p.Ser334=)
|
|
|
NM_198253.3(TERT):c.1003T>C (p.Ser335Pro)
|
rs1478631964
|
|
NM_198253.3(TERT):c.1007G>A (p.Gly336Asp)
|
rs1751172254
|
|
NM_198253.3(TERT):c.1008C>A (p.Gly336=)
|
|
|
NM_198253.3(TERT):c.1009G>A (p.Asp337Asn)
|
rs2126686381
|
|
NM_198253.3(TERT):c.1009G>T (p.Asp337Tyr)
|
rs2126686381
|
|
NM_198253.3(TERT):c.1010A>G (p.Asp337Gly)
|
|
|
NM_198253.3(TERT):c.1011C>G (p.Asp337Glu)
|
|
|
NM_198253.3(TERT):c.1012A>C (p.Lys338Gln)
|
rs1032442071
|
|
NM_198253.3(TERT):c.1014G>A (p.Lys338=)
|
rs2126686359
|
|
NM_198253.3(TERT):c.1018C>A (p.Gln340Lys)
|
rs1561213862
|
|
NM_198253.3(TERT):c.1023G>A (p.Leu341=)
|
rs2126686315
|
|
NM_198253.3(TERT):c.1023G>T (p.Leu341=)
|
rs2126686315
|
|
NM_198253.3(TERT):c.1024C>A (p.Arg342=)
|
rs2126686300
|
|
NM_198253.3(TERT):c.1024C>T (p.Arg342Trp)
|
|
|
NM_198253.3(TERT):c.1026G>C (p.Arg342=)
|
rs2126686276
|
|
NM_198253.3(TERT):c.102G>A (p.Gln34=)
|
rs1751296255
|
|
NM_198253.3(TERT):c.1036C>G (p.Leu346Val)
|
rs1751169610
|
|
NM_198253.3(TERT):c.1037T>C (p.Leu346Pro)
|
rs2126686240
|
|
NM_198253.3(TERT):c.1041C>T (p.Leu347=)
|
|
|
NM_198253.3(TERT):c.1044C>G (p.Ser348Arg)
|
rs1751169034
|
|
NM_198253.3(TERT):c.1044C>T (p.Ser348=)
|
|
|
NM_198253.3(TERT):c.1046C>G (p.Ser349Cys)
|
rs904848231
|
|
NM_198253.3(TERT):c.1046C>T (p.Ser349Phe)
|
rs904848231
|
|
NM_198253.3(TERT):c.1047T>C (p.Ser349=)
|
rs2126686193
|
|
NM_198253.3(TERT):c.1048C>A (p.Leu350Met)
|
rs2126686184
|
|
NM_198253.3(TERT):c.1048C>T (p.Leu350=)
|
rs2126686184
|
|
NM_198253.3(TERT):c.1048_1049del (p.Leu350fs)
|
rs1554042899
|
|
NM_198253.3(TERT):c.104G>A (p.Gly35Asp)
|
rs2126692114
|
|
NM_198253.3(TERT):c.104G>T (p.Gly35Val)
|
|
|
NM_198253.3(TERT):c.1050G>C (p.Leu350=)
|
|
|
NM_198253.3(TERT):c.1051A>G (p.Arg351Gly)
|
rs1579597068
|
|
NM_198253.3(TERT):c.105C>T (p.Gly35=)
|
|
|
NM_198253.3(TERT):c.1062G>C (p.Leu354=)
|
|
|
NM_198253.3(TERT):c.1062G>T (p.Leu354=)
|
|
|
NM_198253.3(TERT):c.1065T>A (p.Thr355=)
|
|
|
NM_198253.3(TERT):c.1067G>C (p.Gly356Ala)
|
rs1307031795
|
|
NM_198253.3(TERT):c.1070C>G (p.Ala357Gly)
|
rs1751166833
|
|
NM_198253.3(TERT):c.1070del (p.Ala357fs)
|
|
|
NM_198253.3(TERT):c.1071T>G (p.Ala357=)
|
|
|
NM_198253.3(TERT):c.1072C>A (p.Arg358=)
|
|
|
NM_198253.3(TERT):c.1072C>G (p.Arg358Gly)
|
|
|
NM_198253.3(TERT):c.1072C>T (p.Arg358Trp)
|
|
|
NM_198253.3(TERT):c.1073G>C (p.Arg358Pro)
|
|
|
NM_198253.3(TERT):c.1073G>T (p.Arg358Leu)
|
|
|
NM_198253.3(TERT):c.1077G>A (p.Arg359=)
|
rs1014531727
|
|
NM_198253.3(TERT):c.1080C>G (p.Leu360=)
|
|
|
NM_198253.3(TERT):c.1081G>C (p.Val361Leu)
|
rs1751165031
|
|
NM_198253.3(TERT):c.1089C>A (p.Thr363=)
|
rs1751164388
|
|
NM_198253.3(TERT):c.1095T>C (p.Phe365=)
|
|
|
NM_198253.3(TERT):c.1096C>T (p.Leu366=)
|
rs1751163747
|
|
NM_198253.3(TERT):c.109C>G (p.Arg37Gly)
|
rs2126692072
|
|
NM_198253.3(TERT):c.10G>C (p.Ala4Pro)
|
rs1579599369
|
|
NM_198253.3(TERT):c.10_11dup (p.Pro5fs)
|
rs2126693109
|
|
NM_198253.3(TERT):c.1103C>A (p.Ser368Tyr)
|
|
|
NM_198253.3(TERT):c.1103C>T (p.Ser368Phe)
|
rs1751163294
|
|
NM_198253.3(TERT):c.1105A>C (p.Arg369=)
|
|
|
NM_198253.3(TERT):c.1105A>G (p.Arg369Gly)
|
rs1561213793
|
|
NM_198253.3(TERT):c.1109C>G (p.Pro370Arg)
|
|
|
NM_198253.3(TERT):c.110G>A (p.Arg37Gln)
|
rs1239502548
|
|
NM_198253.3(TERT):c.110G>C (p.Arg37Pro)
|
|
|
NM_198253.3(TERT):c.110G>T (p.Arg37Leu)
|
|
|
NM_198253.3(TERT):c.1110C>G (p.Pro370=)
|
rs1579597009
|
|
NM_198253.3(TERT):c.1117C>T (p.Pro373Ser)
|
rs1751162009
|
|
NM_198253.3(TERT):c.1118C>G (p.Pro373Arg)
|
|
|
NM_198253.3(TERT):c.1119A>C (p.Pro373=)
|
rs747342234
|
|
NM_198253.3(TERT):c.111G>A (p.Arg37=)
|
rs1751295827
|
|
NM_198253.3(TERT):c.111G>T (p.Arg37=)
|
|
|
NM_198253.3(TERT):c.1120G>A (p.Gly374Arg)
|
|
|
NM_198253.3(TERT):c.1121G>A (p.Gly374Glu)
|
rs778585289
|
|
NM_198253.3(TERT):c.1122G>A (p.Gly374=)
|
|
|
NM_198253.3(TERT):c.1122G>T (p.Gly374=)
|
|
|
NM_198253.3(TERT):c.1122del (p.Thr375fs)
|
rs2126685887
|
|
NM_198253.3(TERT):c.1123A>G (p.Thr375Ala)
|
rs1751161082
|
|
NM_198253.3(TERT):c.1124C>T (p.Thr375Ile)
|
|
|
NM_198253.3(TERT):c.1127C>T (p.Pro376Leu)
|
|
|
NM_198253.3(TERT):c.1128C>T (p.Pro376=)
|
|
|
NM_198253.3(TERT):c.1129C>T (p.Arg377Cys)
|
|
|
NM_198253.3(TERT):c.112C>A (p.Leu38Met)
|
rs1004308241
|
|
NM_198253.3(TERT):c.112C>T (p.Leu38=)
|
|
|
NM_198253.3(TERT):c.112del (p.Leu38fs)
|
rs199422290
|
|
NM_198253.3(TERT):c.1132A>G (p.Arg378Gly)
|
|
|
NM_198253.3(TERT):c.1133G>A (p.Arg378Lys)
|
|
|
NM_198253.3(TERT):c.1134G>T (p.Arg378Ser)
|
rs1751159479
|
|
NM_198253.3(TERT):c.1135T>C (p.Leu379=)
|
|
|
NM_198253.3(TERT):c.1138C>A (p.Pro380Thr)
|
rs144756946
|
|
NM_198253.3(TERT):c.1140C>T (p.Pro380=)
|
rs2126685772
|
|
NM_198253.3(TERT):c.1141del (p.Arg381fs)
|
|
|
NM_198253.3(TERT):c.1142G>A (p.Arg381His)
|
rs777343359
|
|
NM_198253.3(TERT):c.1143C>T (p.Arg381=)
|
rs878855298
|
|
NM_198253.3(TERT):c.1144C>G (p.Leu382Val)
|
rs994804257
|
|
NM_198253.3(TERT):c.1144C>T (p.Leu382=)
|
rs994804257
|
|
NM_198253.3(TERT):c.1149C>T (p.Pro383=)
|
rs2126685713
|
|
NM_198253.3(TERT):c.114G>T (p.Leu38=)
|
rs1350421146
|
|
NM_198253.3(TERT):c.1151A>G (p.Gln384Arg)
|
rs1167344136
|
|
NM_198253.3(TERT):c.1151A>T (p.Gln384Leu)
|
rs1167344136
|
|
NM_198253.3(TERT):c.1152G>C (p.Gln384His)
|
rs1751157044
|
|
NM_198253.3(TERT):c.1153C>T (p.Arg385Cys)
|
rs1751156834
|
|
NM_198253.3(TERT):c.1155C>G (p.Arg385=)
|
rs2126685678
|
|
NM_198253.3(TERT):c.1156T>A (p.Tyr386Asn)
|
|
|
NM_198253.3(TERT):c.1156T>C (p.Tyr386His)
|
|
|
NM_198253.3(TERT):c.1156_1171del (p.Tyr386fs)
|
rs1751155195
|
|
NM_198253.3(TERT):c.1157A>G (p.Tyr386Cys)
|
|
|
NM_198253.3(TERT):c.1158C>T (p.Tyr386=)
|
|
|
NM_198253.3(TERT):c.115G>T (p.Val39Leu)
|
rs1751294892
|
|
NM_198253.3(TERT):c.1168C>A (p.Arg390=)
|
|
|
NM_198253.3(TERT):c.1168C>T (p.Arg390Trp)
|
rs1751155596
|
|
NM_198253.3(TERT):c.1169G>A (p.Arg390Gln)
|
rs1751155418
|
|
NM_198253.3(TERT):c.1172C>T (p.Pro391Leu)
|
|
|
NM_198253.3(TERT):c.1174_1175del (p.Leu392fs)
|
|
|
NM_198253.3(TERT):c.1179T>C (p.Phe393=)
|
|
|
NM_198253.3(TERT):c.117G>A (p.Val39=)
|
rs2126691987
|
|
NM_198253.3(TERT):c.1182G>A (p.Leu394=)
|
|
|
NM_198253.3(TERT):c.1186C>T (p.Leu396=)
|
|
|
NM_198253.3(TERT):c.1192G>A (p.Gly398Arg)
|
|
|
NM_198253.3(TERT):c.1193G>A (p.Gly398Glu)
|
rs1554042874
|
|
NM_198253.3(TERT):c.1194G>C (p.Gly398=)
|
|
|
NM_198253.3(TERT):c.1196A>G (p.Asn399Ser)
|
rs1561213697
|
|
NM_198253.3(TERT):c.119A>T (p.Gln40Leu)
|
rs1751294652
|
|
NM_198253.3(TERT):c.1201G>T (p.Ala401Ser)
|
rs370887827
|
|
NM_198253.3(TERT):c.1202C>T (p.Ala401Val)
|
rs539667998
|
|
NM_198253.3(TERT):c.1203G>A (p.Ala401=)
|
|
|
NM_198253.3(TERT):c.1205A>G (p.Gln402Arg)
|
|
|
NM_198253.3(TERT):c.120G>C (p.Gln40His)
|
rs1751294429
|
|
NM_198253.3(TERT):c.1210C>G (p.Pro404Ala)
|
rs1561213668
|
|
NM_198253.3(TERT):c.1210C>T (p.Pro404Ser)
|
rs1561213668
|
|
NM_198253.3(TERT):c.1211C>G (p.Pro404Arg)
|
rs1060503008
|
|
NM_198253.3(TERT):c.1211C>T (p.Pro404Leu)
|
|
|
NM_198253.3(TERT):c.1218G>A (p.Gly406=)
|
|
|
NM_198253.3(TERT):c.1219G>A (p.Val407Met)
|
rs1751148544
|
|
NM_198253.3(TERT):c.1219G>C (p.Val407Leu)
|
rs1751148544
|
|
NM_198253.3(TERT):c.121C>T (p.Arg41Cys)
|
|
|
NM_198253.3(TERT):c.1221G>A (p.Val407=)
|
|
|
NM_198253.3(TERT):c.1224C>T (p.Leu408=)
|
|
|
NM_198253.3(TERT):c.1231A>G (p.Thr411Ala)
|
|
|
NM_198253.3(TERT):c.1233G>A (p.Thr411=)
|
|
|
NM_198253.3(TERT):c.1233G>C (p.Thr411=)
|
rs1187843426
|
|
NM_198253.3(TERT):c.1233G>T (p.Thr411=)
|
rs1187843426
|
|
NM_198253.3(TERT):c.1235A>G (p.His412Arg)
|
|
|
NM_198253.3(TERT):c.1238G>A (p.Cys413Tyr)
|
rs1214280692
|
|
NM_198253.3(TERT):c.123C>T (p.Arg41=)
|
rs1436697048
|
|
NM_198253.3(TERT):c.1240C>T (p.Pro414Ser)
|
rs2126685248
|
|
NM_198253.3(TERT):c.1242G>C (p.Pro414=)
|
|
|
NM_198253.3(TERT):c.1242G>T (p.Pro414=)
|
|
|
NM_198253.3(TERT):c.1244T>G (p.Leu415Arg)
|
rs1561213606
|
|
NM_198253.3(TERT):c.1245G>A (p.Leu415=)
|
|
|
NM_198253.3(TERT):c.1246C>T (p.Arg416Ter)
|
|
|
NM_198253.3(TERT):c.1249G>C (p.Ala417Pro)
|
rs1238733587
|
|
NM_198253.3(TERT):c.124G>A (p.Gly42Arg)
|
rs1751293669
|
|
NM_198253.3(TERT):c.124G>C (p.Gly42Arg)
|
rs1751293669
|
|
NM_198253.3(TERT):c.1250C>G (p.Ala417Gly)
|
rs1440396485
|
|
NM_198253.3(TERT):c.1250C>T (p.Ala417Val)
|
rs1440396485
|
|
NM_198253.3(TERT):c.1254G>A (p.Ala418=)
|
rs1212476315
|
|
NM_198253.3(TERT):c.1254G>C (p.Ala418=)
|
|
|
NM_198253.3(TERT):c.1254G>T (p.Ala418=)
|
|
|
NM_198253.3(TERT):c.1255G>T (p.Val419Phe)
|
rs1189188708
|
|
NM_198253.3(TERT):c.1258A>G (p.Thr420Ala)
|
rs2126685146
|
|
NM_198253.3(TERT):c.1258A>T (p.Thr420Ser)
|
rs2126685146
|
|
NM_198253.3(TERT):c.1260C>A (p.Thr420=)
|
rs763270537
|
|
NM_198253.3(TERT):c.1260C>G (p.Thr420=)
|
|
|
NM_198253.3(TERT):c.1261C>T (p.Pro421Ser)
|
rs773246847
|
|
NM_198253.3(TERT):c.1262C>T (p.Pro421Leu)
|
|
|
NM_198253.3(TERT):c.1263A>T (p.Pro421=)
|
rs2126685105
|
|
NM_198253.3(TERT):c.1265C>G (p.Ala422Gly)
|
rs2126685086
|
|
NM_198253.3(TERT):c.1267G>A (p.Ala423Thr)
|
|
|
NM_198253.3(TERT):c.1269C>A (p.Ala423=)
|
rs190411812
|
|
NM_198253.3(TERT):c.1269C>G (p.Ala423=)
|
|
|
NM_198253.3(TERT):c.1269C>T (p.Ala423=)
|
rs190411812
|
|
NM_198253.3(TERT):c.126G>C (p.Gly42=)
|
rs2126691882
|
|
NM_198253.3(TERT):c.1277G>C (p.Cys426Ser)
|
|
|
NM_198253.3(TERT):c.1278T>G (p.Cys426Trp)
|
rs1326706015
|
|
NM_198253.3(TERT):c.1279G>A (p.Ala427Thr)
|
|
|
NM_198253.3(TERT):c.127G>A (p.Asp43Asn)
|
rs1579599236
|
|
NM_198253.3(TERT):c.1280C>T (p.Ala427Val)
|
rs2126685035
|
|
NM_198253.3(TERT):c.1282C>G (p.Arg428Gly)
|
|
|
NM_198253.3(TERT):c.1284G>A (p.Arg428=)
|
rs1443163588
|
|
NM_198253.3(TERT):c.1284G>C (p.Arg428=)
|
|
|
NM_198253.3(TERT):c.1285G>A (p.Glu429Lys)
|
rs1561213553
|
|
NM_198253.3(TERT):c.1290G>A (p.Lys430=)
|
|
|
NM_198253.3(TERT):c.1290G>T (p.Lys430Asn)
|
|
|
NM_198253.3(TERT):c.1291C>A (p.Pro431Thr)
|
rs1751140045
|
|
NM_198253.3(TERT):c.1292C>A (p.Pro431His)
|
rs1164823749
|
|
NM_198253.3(TERT):c.1293C>T (p.Pro431=)
|
rs1579596653
|
|
NM_198253.3(TERT):c.1296G>A (p.Gln432=)
|
rs1751139434
|
|
NM_198253.3(TERT):c.1298G>A (p.Gly433Asp)
|
rs537806041
|
|
NM_198253.3(TERT):c.1299C>T (p.Gly433=)
|
|
|
NM_198253.3(TERT):c.1303G>T (p.Val435Leu)
|
|
|
NM_198253.3(TERT):c.1304T>A (p.Val435Glu)
|
rs1561213530
|
|
NM_198253.3(TERT):c.1308G>A (p.Ala436=)
|
rs1311876477
|
|
NM_198253.3(TERT):c.1309G>T (p.Ala437Ser)
|
rs2126684878
|
|
NM_198253.3(TERT):c.1310C>T (p.Ala437Val)
|
rs1554042841
|
|
NM_198253.3(TERT):c.1311C>T (p.Ala437=)
|
rs2126684861
|
|
NM_198253.3(TERT):c.1313C>A (p.Pro438His)
|
rs2126684855
|
|
NM_198253.3(TERT):c.1314C>G (p.Pro438=)
|
|
|
NM_198253.3(TERT):c.1314del (p.Glu439fs)
|
rs2126684848
|
|
NM_198253.3(TERT):c.1315G>A (p.Glu439Lys)
|
rs747463378
|
|
NM_198253.3(TERT):c.1315G>C (p.Glu439Gln)
|
rs747463378
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_198253.3(TERT):c.1318G>A (p.Glu440Lys)
|
rs2126684803
|
|
NM_198253.3(TERT):c.1319A>G (p.Glu440Gly)
|
|
|
NM_198253.3(TERT):c.1319A>T (p.Glu440Val)
|
|
|
NM_198253.3(TERT):c.131C>T (p.Pro44Leu)
|
rs2126691833
|
|
NM_198253.3(TERT):c.131dup (p.Ala45fs)
|
|
|
NM_198253.3(TERT):c.1320G>A (p.Glu440=)
|
|
|
NM_198253.3(TERT):c.1321G>A (p.Glu441Lys)
|
|
|
NM_198253.3(TERT):c.1323G>A (p.Glu441=)
|
|
|
NM_198253.3(TERT):c.1326C>T (p.Asp442=)
|
|
|
NM_198253.3(TERT):c.1327A>C (p.Thr443Pro)
|
rs1030586939
|
|
NM_198253.3(TERT):c.1328C>A (p.Thr443Lys)
|
rs772257175
|
|
NM_198253.3(TERT):c.1328C>G (p.Thr443Arg)
|
rs772257175
|
|
NM_198253.3(TERT):c.132G>A (p.Pro44=)
|
rs2126691830
|
|
NM_198253.3(TERT):c.1332C>A (p.Asp444Glu)
|
rs748983668
|
|
NM_198253.3(TERT):c.1332C>T (p.Asp444=)
|
|
|
NM_198253.3(TERT):c.1334C>G (p.Pro445Arg)
|
rs956854933
|
|
NM_198253.3(TERT):c.1335C>G (p.Pro445=)
|
|
|
NM_198253.3(TERT):c.1335C>T (p.Pro445=)
|
rs1579596558
|
|
NM_198253.3(TERT):c.1336C>G (p.Arg446Gly)
|
rs567650961
|
|
NM_198253.3(TERT):c.1336C>T (p.Arg446Cys)
|
rs567650961
|
|
NM_198253.3(TERT):c.1339C>G (p.Arg447Gly)
|
|
|
NM_198253.3(TERT):c.1340G>A (p.Arg447His)
|
rs1751132830
|
|
NM_198253.3(TERT):c.1340G>T (p.Arg447Leu)
|
|
|
NM_198253.3(TERT):c.1342C>T (p.Leu448=)
|
rs2126684630
|
|
NM_198253.3(TERT):c.134C>T (p.Ala45Val)
|
|
|
NM_198253.3(TERT):c.1350G>T (p.Gln450His)
|
|
|
NM_198253.3(TERT):c.1356C>G (p.Leu452=)
|
|
|
NM_198253.3(TERT):c.1357C>T (p.Arg453Cys)
|
|
|
NM_198253.3(TERT):c.1359C>T (p.Arg453=)
|
|
|
NM_198253.3(TERT):c.135G>A (p.Ala45=)
|
|
|
NM_198253.3(TERT):c.135G>T (p.Ala45=)
|
|
|
NM_198253.3(TERT):c.1361A>G (p.Gln454Arg)
|
rs2126684552
|
|
NM_198253.3(TERT):c.1361A>T (p.Gln454Leu)
|
rs2126684552
|
|
NM_198253.3(TERT):c.1362G>C (p.Gln454His)
|
|
|
NM_198253.3(TERT):c.1364A>T (p.His455Leu)
|
rs781329984
|
|
NM_198253.3(TERT):c.1369A>G (p.Ser457Gly)
|
|
|
NM_198253.3(TERT):c.136G>A (p.Ala46Thr)
|
rs1579599228
|
|
NM_198253.3(TERT):c.136G>T (p.Ala46Ser)
|
rs1579599228
|
|
NM_198253.3(TERT):c.1371C>T (p.Ser457=)
|
|
|
NM_198253.3(TERT):c.1372C>A (p.Pro458Thr)
|
rs1579596485
|
|
NM_198253.3(TERT):c.1377G>T (p.Trp459Cys)
|
rs2126684488
|
|
NM_198253.3(TERT):c.1379del (p.Gln460fs)
|
|
|
NM_198253.3(TERT):c.1380G>A (p.Gln460=)
|
rs754992012
|
|
NM_198253.3(TERT):c.1383G>A (p.Val461=)
|
|
|
NM_198253.3(TERT):c.1386C>T (p.Tyr462=)
|
rs1198114367
|
|
NM_198253.3(TERT):c.1387G>A (p.Gly463Ser)
|
rs1751127777
|
|
NM_198253.3(TERT):c.1388G>C (p.Gly463Ala)
|
rs2126684423
|
|
NM_198253.3(TERT):c.1389C>T (p.Gly463=)
|
rs1554042821
|
|
NM_198253.3(TERT):c.1390T>C (p.Phe464Leu)
|
|
|
NM_198253.3(TERT):c.1393G>T (p.Val465Leu)
|
|
|
NM_198253.3(TERT):c.1398G>T (p.Arg466=)
|
rs1579596423
|
|
NM_198253.3(TERT):c.13C>A (p.Pro5Thr)
|
|
|
NM_198253.3(TERT):c.1401C>T (p.Ala467=)
|
rs1751126189
|
|
NM_198253.3(TERT):c.1404C>T (p.Cys468=)
|
rs2126684334
|
|
NM_198253.3(TERT):c.1405C>A (p.Leu469Met)
|
|
|
NM_198253.3(TERT):c.1407G>T (p.Leu469=)
|
|
|
NM_198253.3(TERT):c.1408C>T (p.Arg470Cys)
|
rs1482602039
|
|
NM_198253.3(TERT):c.1409G>A (p.Arg470His)
|
|
|
NM_198253.3(TERT):c.1411C>A (p.Arg471=)
|
rs750721558
|
|
NM_198253.3(TERT):c.1411C>T (p.Arg471Trp)
|
rs750721558
|
|
NM_198253.3(TERT):c.1416G>A (p.Leu472=)
|
|
|
NM_198253.3(TERT):c.1417G>C (p.Val473Leu)
|
rs1554042817
|
|
NM_198253.3(TERT):c.1417G>T (p.Val473Leu)
|
|
|
NM_198253.3(TERT):c.1419G>A (p.Val473=)
|
rs1396093690
|
|
NM_198253.3(TERT):c.1420C>T (p.Pro474Ser)
|
rs1302718699
|
|
NM_198253.3(TERT):c.1421C>T (p.Pro474Leu)
|
rs1751124049
|
|
NM_198253.3(TERT):c.1424C>T (p.Pro475Leu)
|
|
|
NM_198253.3(TERT):c.1424del (p.Pro475fs)
|
rs2126684234
|
|
NM_198253.3(TERT):c.1425A>C (p.Pro475=)
|
rs1579596372
|
|
NM_198253.3(TERT):c.1425A>T (p.Pro475=)
|
rs1579596372
|
|
NM_198253.3(TERT):c.1426G>A (p.Gly476Ser)
|
|
|
NM_198253.3(TERT):c.142C>T (p.Arg48Cys)
|
rs1554043151
|
|
NM_198253.3(TERT):c.1434G>A (p.Trp478Ter)
|
rs1751122711
|
|
NM_198253.3(TERT):c.1436G>A (p.Gly479Asp)
|
rs1579596341
|
|
NM_198253.3(TERT):c.1437C>A (p.Gly479=)
|
|
|
NM_198253.3(TERT):c.1437C>T (p.Gly479=)
|
rs1378108036
|
|
NM_198253.3(TERT):c.1438T>C (p.Ser480Pro)
|
rs917650159
|
|
NM_198253.3(TERT):c.1439C>G (p.Ser480Cys)
|
|
|
NM_198253.3(TERT):c.143G>A (p.Arg48His)
|
rs1751291943
|
|
NM_198253.3(TERT):c.1447A>G (p.Asn483Asp)
|
|
|
NM_198253.3(TERT):c.1449C>A (p.Asn483Lys)
|
|
|
NM_198253.3(TERT):c.1450G>A (p.Glu484Lys)
|
rs1561213355
|
|
NM_198253.3(TERT):c.1450G>C (p.Glu484Gln)
|
rs1561213355
|
|
NM_198253.3(TERT):c.1450G>T (p.Glu484Ter)
|
rs1561213355
|
|
NM_198253.3(TERT):c.1453del (p.Arg485fs)
|
|
|
NM_198253.3(TERT):c.1455C>G (p.Arg485=)
|
rs1751120161
|
|
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys)
|
rs199422293
|
|
NM_198253.3(TERT):c.1457G>A (p.Arg486His)
|
rs1179486322
|
|
NM_198253.3(TERT):c.1458C>T (p.Arg486=)
|
rs1554042806
|
|
NM_198253.3(TERT):c.145_146delinsTT (p.Ala49Leu)
|
|
|
NM_198253.3(TERT):c.1461C>T (p.Phe487=)
|
|
|
NM_198253.3(TERT):c.1470C>T (p.Asn490=)
|
|
|
NM_198253.3(TERT):c.1471del (p.Thr491fs)
|
|
|
NM_198253.3(TERT):c.1476G>A (p.Lys492=)
|
rs1060504789
|
|
NM_198253.3(TERT):c.1478A>G (p.Lys493Arg)
|
|
|
NM_198253.3(TERT):c.1479G>A (p.Lys493=)
|
rs2126683975
|
|
NM_198253.3(TERT):c.147G>A (p.Ala49=)
|
rs1279270618
|
|
NM_198253.3(TERT):c.147G>T (p.Ala49=)
|
rs1279270618
|
|
NM_198253.3(TERT):c.1483A>C (p.Ile495Leu)
|
rs1561213308
|
|
NM_198253.3(TERT):c.1485C>T (p.Ile495=)
|
rs1352932374
|
|
NM_198253.3(TERT):c.1486T>A (p.Ser496Thr)
|
rs1751117262
|
|
NM_198253.3(TERT):c.1489C>T (p.Leu497=)
|
rs747756167
|
|
NM_198253.3(TERT):c.1492G>A (p.Gly498Arg)
|
rs2126683901
|
|
NM_198253.3(TERT):c.1499A>T (p.His500Leu)
|
rs2126683887
|
|
NM_198253.3(TERT):c.1500T>C (p.His500=)
|
|
|
NM_198253.3(TERT):c.1505A>G (p.Lys502Arg)
|
rs896201074
|
|
NM_198253.3(TERT):c.1506G>A (p.Lys502=)
|
|
|
NM_198253.3(TERT):c.1506G>C (p.Lys502Asn)
|
|
|
NM_198253.3(TERT):c.1509C>G (p.Leu503=)
|
rs2126683847
|
|
NM_198253.3(TERT):c.1511C>G (p.Ser504Trp)
|
rs1561213283
|
|
NM_198253.3(TERT):c.1513C>T (p.Leu505=)
|
|
|
NM_198253.3(TERT):c.1514T>G (p.Leu505Arg)
|
|
|
NM_198253.3(TERT):c.1517A>G (p.Gln506Arg)
|
|
|
NM_198253.3(TERT):c.1521G>A (p.Glu507=)
|
rs2126683816
|
|
NM_198253.3(TERT):c.1522C>T (p.Leu508=)
|
rs1259826430
|
|
NM_198253.3(TERT):c.1526C>T (p.Thr509Met)
|
rs1554042799
|
|
NM_198253.3(TERT):c.1527G>A (p.Thr509=)
|
rs750159404
|
|
NM_198253.3(TERT):c.1527G>C (p.Thr509=)
|
|
|
NM_198253.3(TERT):c.1527G>T (p.Thr509=)
|
|
|
NM_198253.3(TERT):c.1533G>A (p.Lys511=)
|
rs1554042793
|
|
NM_198253.3(TERT):c.1537A>T (p.Ser513Cys)
|
|
|
NM_198253.3(TERT):c.1538G>A (p.Ser513Asn)
|
|
|
NM_198253.3(TERT):c.1539C>T (p.Ser513=)
|
rs1026564018
|
|
NM_198253.3(TERT):c.153G>A (p.Val51=)
|
rs1554043143
|
|
NM_198253.3(TERT):c.1541T>G (p.Val514Gly)
|
rs1751112458
|
|
NM_198253.3(TERT):c.1543C>A (p.Arg515=)
|
rs1751112187
|
|
NM_198253.3(TERT):c.1543C>T (p.Arg515Trp)
|
|
|
NM_198253.3(TERT):c.1544G>A (p.Arg515Gln)
|
|
|
NM_198253.3(TERT):c.1545G>A (p.Arg515=)
|
rs2126683743
|
|
NM_198253.3(TERT):c.1546G>A (p.Asp516Asn)
|
rs1156765768
|
|
NM_198253.3(TERT):c.1546G>C (p.Asp516His)
|
rs1156765768
|
|
NM_198253.3(TERT):c.1548C>T (p.Asp516=)
|
|
|
NM_198253.3(TERT):c.154G>A (p.Ala52Thr)
|
rs1751290167
|
|
NM_198253.3(TERT):c.1551C>T (p.Cys517=)
|
rs2126683702
|
|
NM_198253.3(TERT):c.1552G>A (p.Ala518Thr)
|
|
|
NM_198253.3(TERT):c.1553C>T (p.Ala518Val)
|
rs1474097655
|
|
NM_198253.3(TERT):c.1554T>C (p.Ala518=)
|
|
|
NM_198253.3(TERT):c.1557G>C (p.Trp519Cys)
|
|
|
NM_198253.3(TERT):c.1558C>G (p.Leu520Val)
|
rs1751110507
|
|
NM_198253.3(TERT):c.1559T>C (p.Leu520Pro)
|
rs1751110348
|
|
NM_198253.3(TERT):c.155C>T (p.Ala52Val)
|
rs1751289980
|
|
NM_198253.3(TERT):c.1561C>G (p.Arg521Gly)
|
rs1448835821
|
|
NM_198253.3(TERT):c.1562G>A (p.Arg521His)
|
|
|
NM_198253.3(TERT):c.1562G>T (p.Arg521Leu)
|
rs1060503002
|
|
NM_198253.3(TERT):c.1563C>A (p.Arg521=)
|
|
|
NM_198253.3(TERT):c.1565G>A (p.Arg522Lys)
|
rs1751108994
|
|
NM_198253.3(TERT):c.1566G>A (p.Arg522=)
|
rs770410182
|
|
NM_198253.3(TERT):c.1568G>A (p.Ser523Asn)
|
rs1751108602
|
|
NM_198253.3(TERT):c.1569C>G (p.Ser523Arg)
|
rs1060503014
|
|
NM_198253.3(TERT):c.1569C>T (p.Ser523=)
|
|
|
NM_198253.3(TERT):c.1569_1570delinsAA (p.Ser523_Pro524delinsArgThr)
|
|
|
NM_198253.3(TERT):c.156C>T (p.Ala52=)
|
rs2126691625
|
|
NM_198253.3(TERT):c.1570C>G (p.Pro524Ala)
|
rs898648592
|
|
NM_198253.3(TERT):c.1570C>T (p.Pro524Ser)
|
rs898648592
|
|
NM_198253.3(TERT):c.1571C>A (p.Pro524Gln)
|
|
|
NM_198253.3(TERT):c.1573+13_1573+15del
|
|
|
NM_198253.3(TERT):c.1573+16C>G
|
|
|
NM_198253.3(TERT):c.1573+17C>A
|
rs767882579
|
|
NM_198253.3(TERT):c.1573+17C>G
|
|
|
NM_198253.3(TERT):c.1573+18G>A
|
|
|
NM_198253.3(TERT):c.1573+18G>T
|
rs759997978
|
|
NM_198253.3(TERT):c.1573+20C>G
|
|
|
NM_198253.3(TERT):c.1573+20C>T
|
rs2126683479
|
|
NM_198253.3(TERT):c.1573+2T>A
|
|
|
NM_198253.3(TERT):c.1573+3G>A
|
rs1751107935
|
|
NM_198253.3(TERT):c.1573+6G>A
|
rs1561213199
|
|
NM_198253.3(TERT):c.1573+7A>T
|
rs2126683538
|
|
NM_198253.3(TERT):c.1573+9del
|
rs2126683528
|
|
NM_198253.3(TERT):c.1574-16G>A
|
|
|
NM_198253.3(TERT):c.1574-18A>G
|
rs2126650173
|
|
NM_198253.3(TERT):c.1574-1G>A
|
rs1750106866
|
|
NM_198253.3(TERT):c.1574-1G>C
|
|
|
NM_198253.3(TERT):c.1574-20G>A
|
|
|
NM_198253.3(TERT):c.1574-3777_1574-3776delinsTC
|
rs2126663072
|
|
NM_198253.3(TERT):c.1574-4456_1574-4455delinsAT
|
|
|
NM_198253.3(TERT):c.1574-6T>C
|
|
|
NM_198253.3(TERT):c.1574-7G>C
|
|
|
NM_198253.3(TERT):c.1574-8C>A
|
|
|
NM_198253.3(TERT):c.1574G>A (p.Gly525Glu)
|
rs1477152090
|
|
NM_198253.3(TERT):c.1574G>T (p.Gly525Val)
|
rs1477152090
|
|
NM_198253.3(TERT):c.1575G>T (p.Gly525=)
|
|
|
NM_198253.3(TERT):c.1576G>A (p.Val526Ile)
|
|
|
NM_198253.3(TERT):c.1577T>C (p.Val526Ala)
|
rs1417720511
|
|
NM_198253.3(TERT):c.1580G>A (p.Gly527Asp)
|
|
|
NM_198253.3(TERT):c.1583G>A (p.Cys528Tyr)
|
rs1750105041
|
|
NM_198253.3(TERT):c.1587T>G (p.Val529=)
|
|
|
NM_198253.3(TERT):c.1589C>A (p.Pro530Gln)
|
rs369539932
|
|
NM_198253.3(TERT):c.1590G>C (p.Pro530=)
|
rs1396912668
|
|
NM_198253.3(TERT):c.1594G>A (p.Ala532Thr)
|
rs776459827
|
|
NM_198253.3(TERT):c.1594G>T (p.Ala532Ser)
|
rs776459827
|
|
NM_198253.3(TERT):c.159G>A (p.Gln53=)
|
|
|
NM_198253.3(TERT):c.1602C>A (p.His534Gln)
|
rs1750103319
|
|
NM_198253.3(TERT):c.1602C>T (p.His534=)
|
rs1750103319
|
|
NM_198253.3(TERT):c.1603C>T (p.Arg535Cys)
|
rs1750103128
|
|
NM_198253.3(TERT):c.1604G>C (p.Arg535Pro)
|
|
|
NM_198253.3(TERT):c.1606C>A (p.Leu536Met)
|
rs1049929004
|
|
NM_198253.3(TERT):c.1607T>A (p.Leu536Gln)
|
rs1750102460
|
|
NM_198253.3(TERT):c.1608G>A (p.Leu536=)
|
rs1207136187
|
|
NM_198253.3(TERT):c.1608G>T (p.Leu536=)
|
|
|
NM_198253.3(TERT):c.160T>A (p.Cys54Ser)
|
|
|
NM_198253.3(TERT):c.1610G>A (p.Arg537His)
|
rs1272053273
|
|
NM_198253.3(TERT):c.1612G>T (p.Glu538Ter)
|
rs2126649912
|
|
NM_198253.3(TERT):c.1615G>C (p.Glu539Gln)
|
rs1203927893
|
|
NM_198253.3(TERT):c.1617G>C (p.Glu539Asp)
|
|
|
NM_198253.3(TERT):c.161G>A (p.Cys54Tyr)
|
rs2126691594
|
|
NM_198253.3(TERT):c.1620C>A (p.Ile540=)
|
rs797046041
|
|
NM_198253.3(TERT):c.1621C>T (p.Leu541=)
|
|
|
NM_198253.3(TERT):c.1623_1624delinsTT (p.Ala542Ser)
|
rs2126649852
|
|
NM_198253.3(TERT):c.1625C>T (p.Ala542Val)
|
rs1579580180
|
|
NM_198253.3(TERT):c.1628A>G (p.Lys543Arg)
|
|
|
NM_198253.3(TERT):c.162C>A (p.Cys54Ter)
|
rs1751289309
|
|
NM_198253.3(TERT):c.1633C>T (p.Leu545=)
|
rs2126649815
|
|
NM_198253.3(TERT):c.1635G>A (p.Leu545=)
|
|
|
NM_198253.3(TERT):c.1635G>T (p.Leu545=)
|
rs780652471
|
|
NM_198253.3(TERT):c.1637A>C (p.His546Pro)
|
|
|
NM_198253.3(TERT):c.1637A>G (p.His546Arg)
|
rs2126649799
|
|
NM_198253.3(TERT):c.1639T>G (p.Trp547Gly)
|
rs1223467172
|
|
NM_198253.3(TERT):c.163C>T (p.Leu55=)
|
|
|
NM_198253.3(TERT):c.1640G>C (p.Trp547Ser)
|
|
|
NM_198253.3(TERT):c.1642C>T (p.Leu548=)
|
rs1579580161
|
|
NM_198253.3(TERT):c.1644G>A (p.Leu548=)
|
|
|
NM_198253.3(TERT):c.1644G>C (p.Leu548=)
|
|
|
NM_198253.3(TERT):c.1645A>T (p.Met549Leu)
|
|
|
NM_198253.3(TERT):c.1647G>A (p.Met549Ile)
|
rs1554041316
|
|
NM_198253.3(TERT):c.1648A>C (p.Ser550Arg)
|
rs745806589
|
|
NM_198253.3(TERT):c.1649G>A (p.Ser550Asn)
|
|
|
NM_198253.3(TERT):c.164T>A (p.Leu55Gln)
|
rs387907247
|
|
NM_198253.3(TERT):c.1650T>A (p.Ser550Arg)
|
|
|
NM_198253.3(TERT):c.1650T>G (p.Ser550Arg)
|
rs778896667
|
|
NM_198253.3(TERT):c.1651G>A (p.Val551Met)
|
rs1554041313
|
|
NM_198253.3(TERT):c.1653G>A (p.Val551=)
|
rs1487526976
|
|
NM_198253.3(TERT):c.165G>A (p.Leu55=)
|
|
|
NM_198253.3(TERT):c.1662C>G (p.Val554=)
|
rs200539091
|
|
NM_198253.3(TERT):c.1662C>T (p.Val554=)
|
rs200539091
|
|
NM_198253.3(TERT):c.1663G>A (p.Glu555Lys)
|
|
|
NM_198253.3(TERT):c.1663G>C (p.Glu555Gln)
|
rs1413965241
|
|
NM_198253.3(TERT):c.1666C>G (p.Leu556Val)
|
|
|
NM_198253.3(TERT):c.1666C>T (p.Leu556=)
|
|
|
NM_198253.3(TERT):c.1668G>A (p.Leu556=)
|
rs2126649646
|
|
NM_198253.3(TERT):c.1669C>G (p.Leu557Val)
|
|
|
NM_198253.3(TERT):c.1671C>T (p.Leu557=)
|
|
|
NM_198253.3(TERT):c.1672A>G (p.Arg558Gly)
|
|
|
NM_198253.3(TERT):c.1672A>T (p.Arg558Trp)
|
|
|
NM_198253.3(TERT):c.1675T>G (p.Ser559Ala)
|
rs2126649631
|
|
NM_198253.3(TERT):c.1676C>G (p.Ser559Cys)
|
rs1579580077
|
|
NM_198253.3(TERT):c.1677T>G (p.Ser559=)
|
rs752927236
|
|
NM_198253.3(TERT):c.1680C>A (p.Phe560Leu)
|
rs1554041306
|
|
NM_198253.3(TERT):c.1685_1686del (p.Tyr562fs)
|
rs1579580058
|
|
NM_198253.3(TERT):c.1686T>C (p.Tyr562=)
|
rs925363445
|
|
NM_198253.3(TERT):c.1688T>C (p.Val563Ala)
|
|
|
NM_198253.3(TERT):c.1691C>T (p.Thr564Met)
|
rs1251489309
|
|
NM_198253.3(TERT):c.1695G>A (p.Glu565=)
|
|
|
NM_198253.3(TERT):c.1698C>T (p.Thr566=)
|
rs2126649560
|
|
NM_198253.3(TERT):c.16C>G (p.Arg6Gly)
|
rs1751302097
|
|
NM_198253.3(TERT):c.16_37del (p.Arg6fs)
|
|
|
NM_198253.3(TERT):c.1707A>G (p.Gln569=)
|
rs2126649532
|
|
NM_198253.3(TERT):c.1712del (p.Asn571fs)
|
rs1750090102
|
|
NM_198253.3(TERT):c.1713C>T (p.Asn571=)
|
rs1750089799
|
|
NM_198253.3(TERT):c.1714A>C (p.Arg572=)
|
rs781140261
|
|
NM_198253.3(TERT):c.1715G>A (p.Arg572Lys)
|
|
|
NM_198253.3(TERT):c.1716G>T (p.Arg572Ser)
|
rs2126649488
|
|
NM_198253.3(TERT):c.1719C>T (p.Leu573=)
|
rs978808687
|
|
NM_198253.3(TERT):c.1725C>T (p.Phe575=)
|
|
|
NM_198253.3(TERT):c.1729C>A (p.Arg577=)
|
rs1207489144
|
|
NM_198253.3(TERT):c.1729C>T (p.Arg577Trp)
|
rs1207489144
|
|
NM_198253.3(TERT):c.172G>C (p.Val58Leu)
|
rs1751288465
|
|
NM_198253.3(TERT):c.1731G>A (p.Arg577=)
|
rs143585580
|
|
NM_198253.3(TERT):c.1731G>C (p.Arg577=)
|
rs143585580
|
|
NM_198253.3(TERT):c.1734G>C (p.Lys578Asn)
|
|
|
NM_198253.3(TERT):c.1737T>C (p.Ser579=)
|
rs1395379702
|
|
NM_198253.3(TERT):c.1743G>A (p.Trp581Ter)
|
rs1750086002
|
|
NM_198253.3(TERT):c.1743G>T (p.Trp581Cys)
|
rs1750086002
|
|
NM_198253.3(TERT):c.1744A>T (p.Ser582Cys)
|
|
|
NM_198253.3(TERT):c.174G>T (p.Val58=)
|
rs1054748675
|
|
NM_198253.3(TERT):c.1758C>T (p.Ser586=)
|
rs2126649344
|
|
NM_198253.3(TERT):c.1759A>G (p.Ile587Val)
|
rs752068571
|
|
NM_198253.3(TERT):c.1761T>C (p.Ile587=)
|
rs1750084189
|
|
NM_198253.3(TERT):c.1761T>G (p.Ile587Met)
|
rs1750084189
|
|
NM_198253.3(TERT):c.1767C>A (p.Ile589=)
|
|
|
NM_198253.3(TERT):c.1769+11C>T
|
|
|
NM_198253.3(TERT):c.1769+12C>T
|
|
|
NM_198253.3(TERT):c.1769+13del
|
rs1301313710
|
|
NM_198253.3(TERT):c.1769+17C>A
|
|
|
NM_198253.3(TERT):c.1769+18C>G
|
rs2126649231
|
|
NM_198253.3(TERT):c.1769+18C>T
|
rs2126649231
|
|
NM_198253.3(TERT):c.1769+19A>C
|
rs2126649224
|
|
NM_198253.3(TERT):c.1769+2T>C
|
|
|
NM_198253.3(TERT):c.1769+4C>A
|
|
|
NM_198253.3(TERT):c.1769+5T>C
|
rs1750082976
|
|
NM_198253.3(TERT):c.1769+6G>A
|
|
|
NM_198253.3(TERT):c.1770-11C>T
|
|
|
NM_198253.3(TERT):c.1770-11_1770-8del
|
rs750157829
|
|
NM_198253.3(TERT):c.1770-13C>T
|
rs2126644846
|
|
NM_198253.3(TERT):c.1770-14dup
|
|
|
NM_198253.3(TERT):c.1770-17G>C
|
rs2126644875
|
|
NM_198253.3(TERT):c.1770-3C>T
|
|
|
NM_198253.3(TERT):c.1770-4G>A
|
|
|
NM_198253.3(TERT):c.1770-5T>C
|
|
|
NM_198253.3(TERT):c.1770-6T>C
|
rs2126644817
|
|
NM_198253.3(TERT):c.1770-9C>T
|
rs780230412
|
|
NM_198253.3(TERT):c.1770A>G (p.Arg590=)
|
rs911912730
|
|
NM_198253.3(TERT):c.1773G>A (p.Gln591=)
|
rs2126644785
|
|
NM_198253.3(TERT):c.1775A>T (p.His592Leu)
|
rs2126644777
|
|
NM_198253.3(TERT):c.1776C>T (p.His592=)
|
rs2126644773
|
|
NM_198253.3(TERT):c.1777T>C (p.Leu593=)
|
|
|
NM_198253.3(TERT):c.1779G>A (p.Leu593=)
|
rs199585924
|
|
NM_198253.3(TERT):c.1781A>G (p.Lys594Arg)
|
|
|
NM_198253.3(TERT):c.1782G>A (p.Lys594=)
|
rs1749937873
|
|
NM_198253.3(TERT):c.1784G>A (p.Arg595Lys)
|
|
|
NM_198253.3(TERT):c.1786G>T (p.Val596Leu)
|
rs1554041101
|
|
NM_198253.3(TERT):c.1787T>G (p.Val596Gly)
|
rs1463357127
|
|
NM_198253.3(TERT):c.1792C>T (p.Leu598=)
|
rs2126644712
|
|
NM_198253.3(TERT):c.1794G>A (p.Leu598=)
|
rs752358619
|
|
NM_198253.3(TERT):c.1794G>T (p.Leu598=)
|
|
|
NM_198253.3(TERT):c.1795C>T (p.Arg599Trp)
|
|
|
NM_198253.3(TERT):c.1796G>C (p.Arg599Pro)
|
|
|
NM_198253.3(TERT):c.1797G>A (p.Arg599=)
|
rs2126644679
|
|
NM_198253.3(TERT):c.1797G>C (p.Arg599=)
|
|
|
NM_198253.3(TERT):c.1804T>C (p.Ser602Pro)
|
rs2126644665
|
|
NM_198253.3(TERT):c.1805C>A (p.Ser602Ter)
|
|
|
NM_198253.3(TERT):c.1809A>G (p.Glu603=)
|
|
|
NM_198253.3(TERT):c.180G>A (p.Trp60Ter)
|
rs1554043139
|
|
NM_198253.3(TERT):c.180G>C (p.Trp60Cys)
|
rs1554043139
|
|
NM_198253.3(TERT):c.1810G>A (p.Ala604Thr)
|
rs2126644638
|
|
NM_198253.3(TERT):c.1818C>T (p.Val606=)
|
rs1579577325
|
|
NM_198253.3(TERT):c.1819A>C (p.Arg607=)
|
rs2126644604
|
|
NM_198253.3(TERT):c.1821G>A (p.Arg607=)
|
rs368309861
|
|
NM_198253.3(TERT):c.1821G>C (p.Arg607Ser)
|
|
|
NM_198253.3(TERT):c.1822C>A (p.Gln608Lys)
|
|
|
NM_198253.3(TERT):c.1823A>T (p.Gln608Leu)
|
|
|
NM_198253.3(TERT):c.1824G>A (p.Gln608=)
|
|
|
NM_198253.3(TERT):c.1824G>T (p.Gln608His)
|
rs769540249
|
|
NM_198253.3(TERT):c.1828C>G (p.Arg610Gly)
|
rs747940807
|
|
NM_198253.3(TERT):c.1828C>T (p.Arg610Trp)
|
rs747940807
|
|
NM_198253.3(TERT):c.1829G>T (p.Arg610Leu)
|
rs776763536
|
|
NM_198253.3(TERT):c.182A>G (p.Asp61Gly)
|
|
|
NM_198253.3(TERT):c.1831G>A (p.Glu611Lys)
|
rs1554041095
|
|
NM_198253.3(TERT):c.1831G>T (p.Glu611Ter)
|
|
|
NM_198253.3(TERT):c.1832A>G (p.Glu611Gly)
|
|
|
NM_198253.3(TERT):c.1834G>A (p.Ala612Thr)
|
rs1749932051
|
|
NM_198253.3(TERT):c.1836C>T (p.Ala612=)
|
rs34170122
|
|
NM_198253.3(TERT):c.1837_1841del (p.Leu616fs)
|
|
|
NM_198253.3(TERT):c.183C>T (p.Asp61=)
|
rs1579599141
|
|
NM_198253.3(TERT):c.1840C>G (p.Pro614Ala)
|
|
|
NM_198253.3(TERT):c.1840C>T (p.Pro614Ser)
|
rs2126644525
|
|
NM_198253.3(TERT):c.1841C>A (p.Pro614His)
|
rs1749931485
|
|
NM_198253.3(TERT):c.1844C>T (p.Ala615Val)
|
rs1554041088
|
|
NM_198253.3(TERT):c.1846C>A (p.Leu616Met)
|
|
|
NM_198253.3(TERT):c.184G>T (p.Ala62Ser)
|
rs2126691502
|
|
NM_198253.3(TERT):c.1851G>A (p.Leu617=)
|
rs1749930112
|
|
NM_198253.3(TERT):c.1852A>G (p.Thr618Ala)
|
rs995777798
|
|
NM_198253.3(TERT):c.1853C>G (p.Thr618Arg)
|
|
|
NM_198253.3(TERT):c.1854G>T (p.Thr618=)
|
rs746040728
|
|
NM_198253.3(TERT):c.1855T>A (p.Ser619Thr)
|
rs1749929033
|
|
NM_198253.3(TERT):c.1861C>A (p.Leu621Ile)
|
|
|
NM_198253.3(TERT):c.1864C>T (p.Arg622Cys)
|
rs1579577192
|
|
NM_198253.3(TERT):c.1865G>A (p.Arg622His)
|
|
|
NM_198253.3(TERT):c.1866C>T (p.Arg622=)
|
|
|
NM_198253.3(TERT):c.1870A>G (p.Ile624Val)
|
rs2126644408
|
|
NM_198253.3(TERT):c.1871_1872dup (p.Pro625fs)
|
rs2126644399
|
|
NM_198253.3(TERT):c.1872C>T (p.Ile624=)
|
rs2126644386
|
|
NM_198253.3(TERT):c.1873C>A (p.Pro625Thr)
|
rs1749928062
|
|
NM_198253.3(TERT):c.1878G>C (p.Lys626Asn)
|
|
|
NM_198253.3(TERT):c.1879C>G (p.Pro627Ala)
|
rs2126644373
|
|
NM_198253.3(TERT):c.1882G>A (p.Asp628Asn)
|
rs1354825725
|
|
NM_198253.3(TERT):c.1885G>A (p.Gly629Arg)
|
rs2126644343
|
|
NM_198253.3(TERT):c.1887G>C (p.Gly629=)
|
|
|
NM_198253.3(TERT):c.1887G>T (p.Gly629=)
|
|
|
NM_198253.3(TERT):c.1888C>T (p.Leu630=)
|
rs1579577146
|
|
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)
|
rs1194223999
|
|
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)
|
rs199422294
|
|
NM_198253.3(TERT):c.1893G>A (p.Arg631=)
|
rs2126644284
|
|
NM_198253.3(TERT):c.1895C>T (p.Pro632Leu)
|
rs1749925286
|
|
NM_198253.3(TERT):c.189G>C (p.Arg63=)
|
|
|
NM_198253.3(TERT):c.1900G>T (p.Val634Leu)
|
rs2126644267
|
|
NM_198253.3(TERT):c.1905C>T (p.Asn635=)
|
rs891246934
|
|
NM_198253.3(TERT):c.1906A>G (p.Met636Val)
|
rs1265160730
|
|
NM_198253.3(TERT):c.1909G>A (p.Asp637Asn)
|
rs1561203868
|
|
NM_198253.3(TERT):c.1910A>C (p.Asp637Ala)
|
|
|
NM_198253.3(TERT):c.1913A>G (p.Tyr638Cys)
|
rs1554041073
|
|
NM_198253.3(TERT):c.1917C>A (p.Val639=)
|
rs142989562
|
|
NM_198253.3(TERT):c.1917C>T (p.Val639=)
|
rs142989562
|
|
NM_198253.3(TERT):c.1918G>T (p.Val640Leu)
|
rs765195721
|
|
NM_198253.3(TERT):c.191C>T (p.Pro64Leu)
|
rs1751286367
|
|
NM_198253.3(TERT):c.1921G>C (p.Gly641Arg)
|
|
|
NM_198253.3(TERT):c.1927A>G (p.Arg643Gly)
|
rs1749921453
|
|
NM_198253.3(TERT):c.192G>A (p.Pro64=)
|
rs930445607
|
|
NM_198253.3(TERT):c.192G>C (p.Pro64=)
|
rs930445607
|
|
NM_198253.3(TERT):c.1931C>A (p.Thr644Lys)
|
rs201927653
|
|
NM_198253.3(TERT):c.1932G>C (p.Thr644=)
|
rs148582238
|
|
NM_198253.3(TERT):c.1938C>T (p.Arg646=)
|
rs1579577036
|
|
NM_198253.3(TERT):c.193C>A (p.Pro65Thr)
|
rs544215765
|
|
NM_198253.3(TERT):c.1941A>G (p.Arg647=)
|
|
|
NM_198253.3(TERT):c.1942G>A (p.Glu648Lys)
|
|
|
NM_198253.3(TERT):c.1943A>T (p.Glu648Val)
|
rs1749919380
|
|
NM_198253.3(TERT):c.1947G>C (p.Lys649Asn)
|
|
|
NM_198253.3(TERT):c.194C>T (p.Pro65Leu)
|
rs1561215067
|
|
NM_198253.3(TERT):c.1950+14G>T
|
rs2126644042
|
|
NM_198253.3(TERT):c.1950+5C>A
|
rs1749918549
|
|
NM_198253.3(TERT):c.1951-14G>A
|
rs1258492967
|
|
NM_198253.3(TERT):c.1951-14G>C
|
|
|
NM_198253.3(TERT):c.1951-15T>C
|
rs368941345
|
|
NM_198253.3(TERT):c.1951-16A>G
|
|
|
NM_198253.3(TERT):c.1951-16A>T
|
|
|
NM_198253.3(TERT):c.1951-18C>A
|
rs1472140487
|
|
NM_198253.3(TERT):c.1951-20T>G
|
|
|
NM_198253.3(TERT):c.1951-20del
|
rs2126642509
|
|
NM_198253.3(TERT):c.1951-3C>T
|
|
|
NM_198253.3(TERT):c.1951-4C>G
|
rs1023830541
|
|
NM_198253.3(TERT):c.1951-4C>T
|
|
|
NM_198253.3(TERT):c.1951-5G>T
|
rs770214413
|
|
NM_198253.3(TERT):c.1951-6del
|
rs2126642447
|
|
NM_198253.3(TERT):c.1951-7C>A
|
rs1440794144
|
|
NM_198253.3(TERT):c.1951-8C>T
|
rs1378410963
|
|
NM_198253.3(TERT):c.1951-9_1951-8delinsGT
|
rs2126642463
|
|
NM_198253.3(TERT):c.1951G>C (p.Ala651Pro)
|
rs1579576105
|
|
NM_198253.3(TERT):c.1953C>A (p.Ala651=)
|
rs201088708
|
|
NM_198253.3(TERT):c.1957C>A (p.Arg653Ser)
|
|
|
NM_198253.3(TERT):c.195C>A (p.Pro65=)
|
|
|
NM_198253.3(TERT):c.1964C>A (p.Thr655Asn)
|
rs2126642347
|
|
NM_198253.3(TERT):c.1964C>G (p.Thr655Ser)
|
|
|
NM_198253.3(TERT):c.1967C>T (p.Ser656Leu)
|
|
|
NM_198253.3(TERT):c.1968G>C (p.Ser656=)
|
|
|
NM_198253.3(TERT):c.196C>T (p.Pro66Ser)
|
rs2126691433
|
|
NM_198253.3(TERT):c.1971G>A (p.Arg657=)
|
|
|
NM_198253.3(TERT):c.1972G>T (p.Val658Leu)
|
|
|
NM_198253.3(TERT):c.1978G>T (p.Ala660Ser)
|
|
|
NM_198253.3(TERT):c.1981C>T (p.Leu661=)
|
rs2126642293
|
|
NM_198253.3(TERT):c.1987A>C (p.Ser663Arg)
|
|
|
NM_198253.3(TERT):c.1987A>G (p.Ser663Gly)
|
rs1749860434
|
|
NM_198253.3(TERT):c.1988G>A (p.Ser663Asn)
|
|
|
NM_198253.3(TERT):c.198C>T (p.Pro66=)
|
rs2126691411
|
|
NM_198253.3(TERT):c.198dup (p.Ala67fs)
|
rs2126691416
|
|
NM_198253.3(TERT):c.1990G>A (p.Val664Met)
|
rs797046042
|
|
NM_198253.3(TERT):c.1990G>C (p.Val664Leu)
|
rs797046042
|
|
NM_198253.3(TERT):c.1995C>G (p.Leu665=)
|
rs2126642221
|
|
NM_198253.3(TERT):c.199G>C (p.Ala67Pro)
|
rs2126691405
|
|
NM_198253.3(TERT):c.2001C>G (p.Tyr667Ter)
|
|
|
NM_198253.3(TERT):c.2005C>A (p.Arg669=)
|
rs372140951
|
|
NM_198253.3(TERT):c.2006G>A (p.Arg669Gln)
|
rs1749858434
|
|
NM_198253.3(TERT):c.2006G>C (p.Arg669Pro)
|
rs1749858434
|
|
NM_198253.3(TERT):c.2007G>A (p.Arg669=)
|
rs1060504788
|
|
NM_198253.3(TERT):c.2007G>C (p.Arg669=)
|
rs1060504788
|
|
NM_198253.3(TERT):c.2008G>A (p.Ala670Thr)
|
|
|
NM_198253.3(TERT):c.2009C>G (p.Ala670Gly)
|
|
|
NM_198253.3(TERT):c.200C>T (p.Ala67Val)
|
rs1554043124
|
|
NM_198253.3(TERT):c.2011C>G (p.Arg671Gly)
|
rs1060503011
|
|
NM_198253.3(TERT):c.2013G>A (p.Arg671=)
|
rs34625402
|
|
NM_198253.3(TERT):c.2014C>A (p.Arg672Ser)
|
|
|
NM_198253.3(TERT):c.2016C>T (p.Arg672=)
|
rs1283231300
|
|
NM_198253.3(TERT):c.2019C>G (p.Pro673=)
|
|
|
NM_198253.3(TERT):c.2020G>T (p.Gly674Cys)
|
rs773813809
|
|
NM_198253.3(TERT):c.2021G>T (p.Gly674Val)
|
|
|
NM_198253.3(TERT):c.2022C>T (p.Gly674=)
|
rs1366670221
|
|
NM_198253.3(TERT):c.2025C>T (p.Leu675=)
|
rs1749854298
|
|
NM_198253.3(TERT):c.2026C>G (p.Leu676Val)
|
|
|
NM_198253.3(TERT):c.202G>A (p.Ala68Thr)
|
|
|
NM_198253.3(TERT):c.202G>T (p.Ala68Ser)
|
rs1038954321
|
|
NM_198253.3(TERT):c.2032G>A (p.Ala678Thr)
|
rs1278095401
|
|
NM_198253.3(TERT):c.2032G>C (p.Ala678Pro)
|
|
|
NM_198253.3(TERT):c.2034C>T (p.Ala678=)
|
|
|
NM_198253.3(TERT):c.203C>T (p.Ala68Val)
|
rs1421869855
|
|
NM_198253.3(TERT):c.2044G>C (p.Gly682Arg)
|
|
|
NM_198253.3(TERT):c.2046C>T (p.Gly682=)
|
|
|
NM_198253.3(TERT):c.2049G>A (p.Leu683=)
|
rs1561203157
|
|
NM_198253.3(TERT):c.2050G>A (p.Asp684Asn)
|
|
|
NM_198253.3(TERT):c.2051A>T (p.Asp684Val)
|
rs776981958
|
|
NM_198253.3(TERT):c.2053G>A (p.Asp685Asn)
|
rs1579575848
|
|
NM_198253.3(TERT):c.2058C>T (p.Ile686=)
|
|
|
NM_198253.3(TERT):c.2059C>T (p.His687Tyr)
|
|
|
NM_198253.3(TERT):c.2063G>A (p.Arg688Lys)
|
|
|
NM_198253.3(TERT):c.2067C>G (p.Ala689=)
|
|
|
NM_198253.3(TERT):c.2067C>T (p.Ala689=)
|
rs1749849158
|
|
NM_198253.3(TERT):c.206C>T (p.Pro69Leu)
|
|
|
NM_198253.3(TERT):c.2070G>C (p.Trp690Cys)
|
|
|
NM_198253.3(TERT):c.2071C>A (p.Arg691Ser)
|
rs866767063
|
|
NM_198253.3(TERT):c.2071C>T (p.Arg691Cys)
|
rs866767063
|
|
NM_198253.3(TERT):c.2072G>A (p.Arg691His)
|
rs202123213
|
|
NM_198253.3(TERT):c.2074A>G (p.Thr692Ala)
|
|
|
NM_198253.3(TERT):c.2075C>A (p.Thr692Asn)
|
rs1060503005
|
|
NM_198253.3(TERT):c.2075C>T (p.Thr692Ile)
|
rs1060503005
|
|
NM_198253.3(TERT):c.2081T>A (p.Val694Glu)
|
rs1026167666
|
|
NM_198253.3(TERT):c.2081T>C (p.Val694Ala)
|
rs1026167666
|
|
NM_198253.3(TERT):c.2082G>C (p.Val694=)
|
rs2126641798
|
|
NM_198253.3(TERT):c.2084T>A (p.Leu695Gln)
|
rs1749846376
|
|
NM_198253.3(TERT):c.2085G>A (p.Leu695=)
|
rs1579575778
|
|
NM_198253.3(TERT):c.2086C>T (p.Arg696Cys)
|
|
|
NM_198253.3(TERT):c.2087G>A (p.Arg696His)
|
rs756152343
|
|
NM_198253.3(TERT):c.2087G>C (p.Arg696Pro)
|
|
|
NM_198253.3(TERT):c.2090T>C (p.Val697Ala)
|
rs1749845469
|
|
NM_198253.3(TERT):c.2092C>T (p.Arg698Trp)
|
|
|
NM_198253.3(TERT):c.2093G>A (p.Arg698Gln)
|
|
|
NM_198253.3(TERT):c.2095G>A (p.Ala699Thr)
|
rs2126641710
|
|
NM_198253.3(TERT):c.2095G>T (p.Ala699Ser)
|
|
|
NM_198253.3(TERT):c.2098C>T (p.Gln700Ter)
|
rs878855300
|
|
NM_198253.3(TERT):c.20G>A (p.Cys7Tyr)
|
rs1751301663
|
|
NM_198253.3(TERT):c.2102A>G (p.Asp701Gly)
|
|
|
NM_198253.3(TERT):c.2103C>T (p.Asp701=)
|
rs2126641684
|
|
NM_198253.3(TERT):c.2105C>G (p.Pro702Arg)
|
|
|
NM_198253.3(TERT):c.2106G>C (p.Pro702=)
|
|
|
NM_198253.3(TERT):c.2106G>T (p.Pro702=)
|
rs151055240
|
|
NM_198253.3(TERT):c.2109G>A (p.Pro703=)
|
rs763147123
|
|
NM_198253.3(TERT):c.2109G>T (p.Pro703=)
|
rs763147123
|
|
NM_198253.3(TERT):c.210C>T (p.Ser70=)
|
rs2126691359
|
|
NM_198253.3(TERT):c.2112T>C (p.Pro704=)
|
|
|
NM_198253.3(TERT):c.2113G>A (p.Glu705Lys)
|
|
|
NM_198253.3(TERT):c.2121C>T (p.Tyr707=)
|
|
|
NM_198253.3(TERT):c.2127C>A (p.Val709=)
|
rs765264494
|
|
NM_198253.3(TERT):c.2130+13G>A
|
|
|
NM_198253.3(TERT):c.2130+13G>T
|
|
|
NM_198253.3(TERT):c.2130+15C>A
|
|
|
NM_198253.3(TERT):c.2130+16C>G
|
rs2126641564
|
|
NM_198253.3(TERT):c.2130+17C>T
|
|
|
NM_198253.3(TERT):c.2130+18C>A
|
|
|
NM_198253.3(TERT):c.2130+18C>T
|
rs2126641556
|
|
NM_198253.3(TERT):c.2130+1G>A
|
|
|
NM_198253.3(TERT):c.2130+1G>C
|
|
|
NM_198253.3(TERT):c.2130+20G>T
|
|
|
NM_198253.3(TERT):c.2130+2T>G
|
|
|
NM_198253.3(TERT):c.2130+3G>A
|
rs2126641610
|
|
NM_198253.3(TERT):c.2130+4G>T
|
rs762332544
|
|
NM_198253.3(TERT):c.2130+5G>A
|
rs777102890
|
|
NM_198253.3(TERT):c.2130+7G>A
|
|
|
NM_198253.3(TERT):c.2130+7del
|
|
|
NM_198253.3(TERT):c.2130G>A (p.Lys710=)
|
|
|
NM_198253.3(TERT):c.2131-10A>G
|
|
|
NM_198253.3(TERT):c.2131-12C>T
|
|
|
NM_198253.3(TERT):c.2131-13T>C
|
|
|
NM_198253.3(TERT):c.2131-14C>G
|
|
|
NM_198253.3(TERT):c.2131-15C>T
|
rs2126640561
|
|
NM_198253.3(TERT):c.2131-19C>T
|
|
|
NM_198253.3(TERT):c.2131-19_2131-17del
|
rs2126640576
|
|
NM_198253.3(TERT):c.2131-2A>G
|
|
|
NM_198253.3(TERT):c.2131-4A>C
|
rs1030149805
|
|
NM_198253.3(TERT):c.2131-4A>G
|
rs1030149805
|
|
NM_198253.3(TERT):c.2131G>T (p.Val711Leu)
|
|
|
NM_198253.3(TERT):c.2136T>C (p.Asp712=)
|
|
|
NM_198253.3(TERT):c.2137G>A (p.Val713Met)
|
|
|
NM_198253.3(TERT):c.213C>T (p.Phe71=)
|
|
|
NM_198253.3(TERT):c.2141C>A (p.Thr714Lys)
|
|
|
NM_198253.3(TERT):c.2142G>C (p.Thr714=)
|
|
|
NM_198253.3(TERT):c.2145C>A (p.Gly715=)
|
rs769467251
|
|
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr)
|
rs387907249
|
|
NM_198253.3(TERT):c.2147C>T (p.Ala716Val)
|
rs199422298
|
|
NM_198253.3(TERT):c.214C>T (p.Arg72Cys)
|
rs943289163
|
|
NM_198253.3(TERT):c.2152G>A (p.Asp718Asn)
|
rs1579574994
|
|
NM_198253.3(TERT):c.2154C>A (p.Asp718Glu)
|
|
|
NM_198253.3(TERT):c.2157C>G (p.Thr719=)
|
rs1554040905
|
|
NM_198253.3(TERT):c.2160C>A (p.Ile720=)
|
rs1212059525
|
|
NM_198253.3(TERT):c.2160C>G (p.Ile720Met)
|
|
|
NM_198253.3(TERT):c.2160C>T (p.Ile720=)
|
|
|
NM_198253.3(TERT):c.2163C>T (p.Pro721=)
|
rs1455990789
|
|
NM_198253.3(TERT):c.2165A>G (p.Gln722Arg)
|
rs1554040902
|
|
NM_198253.3(TERT):c.216C>A (p.Arg72=)
|
|
|
NM_198253.3(TERT):c.216C>T (p.Arg72=)
|
rs2126691332
|
|
NM_198253.3(TERT):c.2172G>A (p.Arg724=)
|
|
|
NM_198253.3(TERT):c.2172G>C (p.Arg724Ser)
|
rs1749793761
|
|
NM_198253.3(TERT):c.2175C>T (p.Leu725=)
|
|
|
NM_198253.3(TERT):c.2181G>T (p.Glu727Asp)
|
|
|
NM_198253.3(TERT):c.2182G>A (p.Val728Ile)
|
rs2126640328
|
|
NM_198253.3(TERT):c.2187C>G (p.Ile729Met)
|
rs200819224
|
|
NM_198253.3(TERT):c.219+10C>G
|
rs1579599045
|
|
NM_198253.3(TERT):c.219+12C>G
|
rs1751282971
|
|
NM_198253.3(TERT):c.219+12C>T
|
|
|
NM_198253.3(TERT):c.219+13G>A
|
rs1751282799
|
|
NM_198253.3(TERT):c.219+14G>A
|
|
|
NM_198253.3(TERT):c.219+14G>C
|
rs1469244031
|
|
NM_198253.3(TERT):c.219+15G>A
|
|
|
NM_198253.3(TERT):c.219+16G>A
|
rs2126691259
|
|
NM_198253.3(TERT):c.219+18C>T
|
rs1751282294
|
|
NM_198253.3(TERT):c.219+19G>A
|
|
|
NM_198253.3(TERT):c.219+19G>C
|
|
|
NM_198253.3(TERT):c.219+19_219+20insGAG
|
rs2126691250
|
|
NM_198253.3(TERT):c.219+1G>A
|
rs199422309
|
|
NM_198253.3(TERT):c.219+20G>A
|
rs1416634421
|
|
NM_198253.3(TERT):c.219+3G>A
|
rs2126691323
|
|
NM_198253.3(TERT):c.219+6C>A
|
rs1751283546
|
|
NM_198253.3(TERT):c.219+7C>A
|
rs573817924
|
|
NM_198253.3(TERT):c.219+9C>T
|
rs2126691300
|
|
NM_198253.3(TERT):c.2193C>T (p.Ser731=)
|
rs2126640257
|
|
NM_198253.3(TERT):c.2194A>G (p.Ile732Val)
|
|
|
NM_198253.3(TERT):c.2197A>G (p.Ile733Val)
|
rs1749791069
|
|
NM_198253.3(TERT):c.2197A>T (p.Ile733Phe)
|
rs1749791069
|
|
NM_198253.3(TERT):c.220-12C>G
|
|
|
NM_198253.3(TERT):c.220-13G>A
|
rs1452360898
|
|
NM_198253.3(TERT):c.220-13G>C
|
rs1452360898
|
|
NM_198253.3(TERT):c.220-14C>T
|
|
|
NM_198253.3(TERT):c.220-15G>A
|
|
|
NM_198253.3(TERT):c.220-18A>G
|
|
|
NM_198253.3(TERT):c.220-19C>T
|
|
|
NM_198253.3(TERT):c.220-20del
|
|
|
NM_198253.3(TERT):c.220-3C>T
|
rs774658501
|
|
NM_198253.3(TERT):c.220-5C>G
|
|
|
NM_198253.3(TERT):c.220-5C>T
|
|
|
NM_198253.3(TERT):c.220-5dup
|
|
|
NM_198253.3(TERT):c.220-6C>T
|
|
|
NM_198253.3(TERT):c.220-7C>T
|
rs1751274289
|
|
NM_198253.3(TERT):c.220-9C>T
|
rs533701379
|
|
NM_198253.3(TERT):c.2200A>G (p.Lys734Glu)
|
rs767819088
|
|
NM_198253.3(TERT):c.2205C>T (p.Pro735=)
|
|
|
NM_198253.3(TERT):c.2207A>G (p.Gln736Arg)
|
rs1749790259
|
|
NM_198253.3(TERT):c.2209A>G (p.Asn737Asp)
|
rs933160193
|
|
NM_198253.3(TERT):c.2210A>G (p.Asn737Ser)
|
rs1749789809
|
|
NM_198253.3(TERT):c.2211C>A (p.Asn737Lys)
|
rs1749789535
|
|
NM_198253.3(TERT):c.2211C>T (p.Asn737=)
|
rs1749789535
|
|
NM_198253.3(TERT):c.2216A>G (p.Tyr739Cys)
|
|
|
NM_198253.3(TERT):c.2219G>A (p.Cys740Tyr)
|
rs1749788238
|
|
NM_198253.3(TERT):c.221T>A (p.Val74Glu)
|
rs1751273218
|
|
NM_198253.3(TERT):c.2221G>A (p.Val741Met)
|
rs150819225
|
|
NM_198253.3(TERT):c.2221G>C (p.Val741Leu)
|
|
|
NM_198253.3(TERT):c.2223G>A (p.Val741=)
|
|
|
NM_198253.3(TERT):c.2224C>T (p.Arg742Cys)
|
|
|
NM_198253.3(TERT):c.222G>C (p.Val74=)
|
|
|
NM_198253.3(TERT):c.2231A>G (p.Tyr744Cys)
|
|
|
NM_198253.3(TERT):c.2236G>A (p.Val746Met)
|
rs1321220917
|
|
NM_198253.3(TERT):c.2239G>A (p.Val747Ile)
|
rs1554040888
|
|
NM_198253.3(TERT):c.2240del (p.Val747fs)
|
rs199422300
|
|
NM_198253.3(TERT):c.2241C>T (p.Val747=)
|
rs2126640074
|
|
NM_198253.3(TERT):c.2243_2266dup (p.Val755_Arg756insGlnLysAlaAlaHisGlyHisVal)
|
|
|
NM_198253.3(TERT):c.2247G>A (p.Lys749=)
|
rs2126640051
|
|
NM_198253.3(TERT):c.2248G>A (p.Ala750Thr)
|
rs1579574831
|
|
NM_198253.3(TERT):c.2251G>T (p.Ala751Ser)
|
|
|
NM_198253.3(TERT):c.2253C>A (p.Ala751=)
|
|
|
NM_198253.3(TERT):c.2253C>G (p.Ala751=)
|
|
|
NM_198253.3(TERT):c.2257G>A (p.Gly753Arg)
|
|
|
NM_198253.3(TERT):c.2259G>A (p.Gly753=)
|
rs2126639996
|
|
NM_198253.3(TERT):c.225C>A (p.Ser75=)
|
rs1751272539
|
|
NM_198253.3(TERT):c.225C>T (p.Ser75=)
|
rs1751272539
|
|
NM_198253.3(TERT):c.2262C>G (p.His754Gln)
|
|
|
NM_198253.3(TERT):c.2267G>T (p.Arg756Leu)
|
rs374206276
|
|
NM_198253.3(TERT):c.2270A>G (p.Lys757Arg)
|
rs1187645843
|
|
NM_198253.3(TERT):c.2272G>T (p.Ala758Ser)
|
rs756195573
|
|
NM_198253.3(TERT):c.2273C>T (p.Ala758Val)
|
|
|
NM_198253.3(TERT):c.2277C>T (p.Phe759=)
|
rs1579574740
|
|
NM_198253.3(TERT):c.227G>C (p.Cys76Ser)
|
rs1192287561
|
|
NM_198253.3(TERT):c.2280G>A (p.Lys760=)
|
rs2126639919
|
|
NM_198253.3(TERT):c.2282G>A (p.Ser761Asn)
|
rs1749780917
|
|
NM_198253.3(TERT):c.2284C>T (p.His762Tyr)
|
|
|
NM_198253.3(TERT):c.2286+11C>A
|
|
|
NM_198253.3(TERT):c.2286+12G>C
|
|
|
NM_198253.3(TERT):c.2286+12G>T
|
rs756363405
|
|
NM_198253.3(TERT):c.2286+15T>G
|
|
|
NM_198253.3(TERT):c.2286+18T>C
|
|
|
NM_198253.3(TERT):c.2286+1G>A
|
rs1749780301
|
|
NM_198253.3(TERT):c.2286+1G>T
|
|
|
NM_198253.3(TERT):c.2286+20G>A
|
rs977203970
|
|
NM_198253.3(TERT):c.2286+20G>T
|
|
|
NM_198253.3(TERT):c.2286+5G>A
|
rs1060502997
|
|
NM_198253.3(TERT):c.2286+5G>C
|
rs1060502997
|
|
NM_198253.3(TERT):c.2286+6G>T
|
rs1749779984
|
|
NM_198253.3(TERT):c.2286+7T>C
|
rs2126639872
|
|
NM_198253.3(TERT):c.2286+8T>C
|
rs2126639868
|
|
NM_198253.3(TERT):c.2286+9C>G
|
|
|
NM_198253.3(TERT):c.2287-10C>T
|
rs2126618123
|
|
NM_198253.3(TERT):c.2287-13C>T
|
rs2126618135
|
|
NM_198253.3(TERT):c.2287-14T>G
|
rs2126618143
|
|
NM_198253.3(TERT):c.2287-17C>G
|
rs2126618153
|
|
NM_198253.3(TERT):c.2287-17C>T
|
|
|
NM_198253.3(TERT):c.2287-18C>G
|
|
|
NM_198253.3(TERT):c.2287-19C>G
|
|
|
NM_198253.3(TERT):c.2287-19C>T
|
rs1749103816
|
|
NM_198253.3(TERT):c.2287-20G>T
|
|
|
NM_198253.3(TERT):c.2287-3C>T
|
rs775070951
|
|
NM_198253.3(TERT):c.2287-6C>T
|
rs758808508
|
|
NM_198253.3(TERT):c.2287-7C>T
|
|
|
NM_198253.3(TERT):c.2287-8G>A
|
rs766904121
|
|
NM_198253.3(TERT):c.2287-8G>C
|
|
|
NM_198253.3(TERT):c.2289C>A (p.Val763=)
|
rs1310927331
|
|
NM_198253.3(TERT):c.2291C>G (p.Ser764Cys)
|
rs1749100396
|
|
NM_198253.3(TERT):c.2291C>T (p.Ser764Phe)
|
rs1749100396
|
|
NM_198253.3(TERT):c.2293A>G (p.Thr765Ala)
|
|
|
NM_198253.3(TERT):c.2294C>T (p.Thr765Ile)
|
rs1749100008
|
|
NM_198253.3(TERT):c.2295C>T (p.Thr765=)
|
rs1749099808
|
|
NM_198253.3(TERT):c.2299A>G (p.Thr767Ala)
|
|
|
NM_198253.3(TERT):c.229C>G (p.Leu77Val)
|
rs1751271727
|
|
NM_198253.3(TERT):c.229C>T (p.Leu77=)
|
rs1751271727
|
|
NM_198253.3(TERT):c.22C>A (p.Arg8=)
|
rs1579599353
|
|
NM_198253.3(TERT):c.22C>G (p.Arg8Gly)
|
rs1579599353
|
|
NM_198253.3(TERT):c.2304C>T (p.Asp768=)
|
|
|
NM_198253.3(TERT):c.2306T>A (p.Leu769His)
|
|
|
NM_198253.3(TERT):c.2307C>G (p.Leu769=)
|
rs117662357
|
|
NM_198253.3(TERT):c.230T>C (p.Leu77Pro)
|
rs1751271544
|
|
NM_198253.3(TERT):c.2311C>G (p.Pro771Ala)
|
|
|
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys)
|
rs121918663
|
|
NM_198253.3(TERT):c.2315_2330del (p.Tyr772fs)
|
rs2126617841
|
|
NM_198253.3(TERT):c.2323C>T (p.Gln775Ter)
|
|
|
NM_198253.3(TERT):c.2329G>A (p.Val777Met)
|
rs1554040129
|
|
NM_198253.3(TERT):c.2331G>T (p.Val777=)
|
|
|
NM_198253.3(TERT):c.2332G>A (p.Ala778Thr)
|
rs781360741
|
|
NM_198253.3(TERT):c.233A>G (p.Lys78Arg)
|
|
|
NM_198253.3(TERT):c.2340G>A (p.Leu780=)
|
|
|
NM_198253.3(TERT):c.2345A>C (p.Glu782Ala)
|
rs1060503012
|
|
NM_198253.3(TERT):c.2346G>C (p.Glu782Asp)
|
|
|
NM_198253.3(TERT):c.2346G>T (p.Glu782Asp)
|
|
|
NM_198253.3(TERT):c.2348C>T (p.Thr783Ile)
|
rs2126617732
|
|
NM_198253.3(TERT):c.2349C>T (p.Thr783=)
|
|
|
NM_198253.3(TERT):c.2350A>G (p.Ser784Gly)
|
|
|
NM_198253.3(TERT):c.2353C>T (p.Pro785Ser)
|
rs755822641
|
|
NM_198253.3(TERT):c.2355G>T (p.Pro785=)
|
|
|
NM_198253.3(TERT):c.2356C>T (p.Leu786=)
|
rs1488050310
|
|
NM_198253.3(TERT):c.2358G>A (p.Leu786=)
|
|
|
NM_198253.3(TERT):c.2360G>T (p.Arg787Met)
|
rs1202226678
|
|
NM_198253.3(TERT):c.2362G>A (p.Asp788Asn)
|
|
|
NM_198253.3(TERT):c.2363A>G (p.Asp788Gly)
|
rs1749092135
|
|
NM_198253.3(TERT):c.2373C>T (p.Val791=)
|
|
|
NM_198253.3(TERT):c.2374A>G (p.Ile792Val)
|
rs1289861532
|
|
NM_198253.3(TERT):c.2377G>A (p.Glu793Lys)
|
rs1043358053
|
|
NM_198253.3(TERT):c.2379G>T (p.Glu793Asp)
|
|
|
NM_198253.3(TERT):c.2380C>T (p.Gln794Ter)
|
|
|
NM_198253.3(TERT):c.2381A>G (p.Gln794Arg)
|
rs1749089732
|
|
NM_198253.3(TERT):c.2382+10C>T
|
rs2126617466
|
|
NM_198253.3(TERT):c.2382+14C>T
|
|
|
NM_198253.3(TERT):c.2382+15C>T
|
rs1749087923
|
|
NM_198253.3(TERT):c.2382+17G>T
|
rs762113246
|
|
NM_198253.3(TERT):c.2382+18C>A
|
|
|
NM_198253.3(TERT):c.2382+19A>G
|
|
|
NM_198253.3(TERT):c.2382+19A>T
|
|
|
NM_198253.3(TERT):c.2382+1G>C
|
rs1749089374
|
|
NM_198253.3(TERT):c.2382+1G>T
|
|
|
NM_198253.3(TERT):c.2382+235_2453del
|
|
|
NM_198253.3(TERT):c.2382+3C>A
|
rs1579564797
|
|
NM_198253.3(TERT):c.2382+3C>T
|
rs1579564797
|
|
NM_198253.3(TERT):c.2382+4T>A
|
|
|
NM_198253.3(TERT):c.2382+4T>C
|
rs1579564791
|
|
NM_198253.3(TERT):c.2382+6G>A
|
rs1400066265
|
|
NM_198253.3(TERT):c.2382+6G>C
|
rs1400066265
|
|
NM_198253.3(TERT):c.2382+6G>T
|
rs1400066265
|
|
NM_198253.3(TERT):c.2382+9A>G
|
rs893726292
|
|
NM_198253.3(TERT):c.2382G>T (p.Gln794His)
|
|
|
NM_198253.3(TERT):c.2383-10G>A
|
|
|
NM_198253.3(TERT):c.2383-11T>C
|
|
|
NM_198253.3(TERT):c.2383-12C>T
|
|
|
NM_198253.3(TERT):c.2383-14G>C
|
|
|
NM_198253.3(TERT):c.2383-14G>T
|
|
|
NM_198253.3(TERT):c.2383-15del
|
rs756980454
|
|
NM_198253.3(TERT):c.2383-16_2383-15inv
|
|
|
NM_198253.3(TERT):c.2383-19C>T
|
|
|
NM_198253.3(TERT):c.2383-3C>T
|
rs2126614684
|
|
NM_198253.3(TERT):c.2383-5C>G
|
rs373488315
|
|
NM_198253.3(TERT):c.2383-5C>T
|
rs373488315
|
|
NM_198253.3(TERT):c.2383-6T>C
|
|
|
NM_198253.3(TERT):c.2383-9C>T
|
|
|
NM_198253.3(TERT):c.238C>T (p.Leu80=)
|
rs2126690855
|
|
NM_198253.3(TERT):c.2392C>T (p.Leu798=)
|
|
|
NM_198253.3(TERT):c.2396A>G (p.Asn799Ser)
|
rs2126614637
|
|
NM_198253.3(TERT):c.2397T>C (p.Asn799=)
|
rs2126614626
|
|
NM_198253.3(TERT):c.2398G>A (p.Glu800Lys)
|
|
|
NM_198253.3(TERT):c.23G>A (p.Arg8Gln)
|
|
|
NM_198253.3(TERT):c.2400G>A (p.Glu800=)
|
rs2126614616
|
|
NM_198253.3(TERT):c.2401G>A (p.Ala801Thr)
|
rs1749006856
|
|
NM_198253.3(TERT):c.2401G>C (p.Ala801Pro)
|
rs1749006856
|
|
NM_198253.3(TERT):c.2401G>T (p.Ala801Ser)
|
|
|
NM_198253.3(TERT):c.2402C>A (p.Ala801Asp)
|
|
|
NM_198253.3(TERT):c.2402C>G (p.Ala801Gly)
|
rs1749006590
|
|
NM_198253.3(TERT):c.2402C>T (p.Ala801Val)
|
|
|
NM_198253.3(TERT):c.2405G>T (p.Ser802Ile)
|
rs1060503004
|
|
NM_198253.3(TERT):c.2406C>T (p.Ser802=)
|
|
|
NM_198253.3(TERT):c.2409T>C (p.Ser803=)
|
|
|
NM_198253.3(TERT):c.2410G>A (p.Gly804Ser)
|
rs1749005440
|
|
NM_198253.3(TERT):c.2411G>A (p.Gly804Asp)
|
rs1442845192
|
|
NM_198253.3(TERT):c.2412C>A (p.Gly804=)
|
rs2126614525
|
|
NM_198253.3(TERT):c.2412C>T (p.Gly804=)
|
|
|
NM_198253.3(TERT):c.2413C>A (p.Leu805Ile)
|
|
|
NM_198253.3(TERT):c.2413C>T (p.Leu805Phe)
|
rs2126614509
|
|
NM_198253.3(TERT):c.2417T>C (p.Phe806Ser)
|
rs1749004999
|
|
NM_198253.3(TERT):c.2421C>G (p.Asp807Glu)
|
rs771997164
|
|
NM_198253.3(TERT):c.2428C>G (p.Leu810Val)
|
|
|
NM_198253.3(TERT):c.2432G>T (p.Arg811Leu)
|
|
|
NM_198253.3(TERT):c.2433C>T (p.Arg811=)
|
|
|
NM_198253.3(TERT):c.2438T>C (p.Met813Thr)
|
|
|
NM_198253.3(TERT):c.2443C>T (p.His815Tyr)
|
|
|
NM_198253.3(TERT):c.2444A>C (p.His815Pro)
|
rs771392980
|
|
NM_198253.3(TERT):c.2446C>A (p.His816Asn)
|
rs1579563373
|
|
NM_198253.3(TERT):c.2446C>T (p.His816Tyr)
|
rs1579563373
|
|
NM_198253.3(TERT):c.2450C>G (p.Ala817Gly)
|
|
|
NM_198253.3(TERT):c.2454G>C (p.Val818=)
|
|
|
NM_198253.3(TERT):c.2455C>A (p.Arg819Ser)
|
rs746621306
|
|
NM_198253.3(TERT):c.2459T>G (p.Ile820Ser)
|
|
|
NM_198253.3(TERT):c.2461_2462del (p.Arg821fs)
|
|
|
NM_198253.3(TERT):c.2461del (p.Arg821fs)
|
rs2126614292
|
|
NM_198253.3(TERT):c.2466C>T (p.Gly822=)
|
|
|
NM_198253.3(TERT):c.2467A>G (p.Lys823Glu)
|
rs2126614257
|
|
NM_198253.3(TERT):c.2468+10G>A
|
|
|
NM_198253.3(TERT):c.2468+10G>T
|
rs878855301
|
|
NM_198253.3(TERT):c.2468+16A>C
|
|
|
NM_198253.3(TERT):c.2468+17G>A
|
|
|
NM_198253.3(TERT):c.2468+17G>C
|
|
|
NM_198253.3(TERT):c.2468+19T>C
|
rs2126614222
|
|
NM_198253.3(TERT):c.2468+20G>A
|
|
|
NM_198253.3(TERT):c.2469-10C>G
|
|
|
NM_198253.3(TERT):c.2469-10C>T
|
rs772747367
|
|
NM_198253.3(TERT):c.2469-13C>G
|
|
|
NM_198253.3(TERT):c.2469-13C>T
|
|
|
NM_198253.3(TERT):c.2469-14T>C
|
rs2126607781
|
|
NM_198253.3(TERT):c.2469-18T>C
|
|
|
NM_198253.3(TERT):c.2469-19C>T
|
|
|
NM_198253.3(TERT):c.2469-20C>T
|
|
|
NM_198253.3(TERT):c.246C>G (p.Ala82=)
|
rs1751270960
|
|
NM_198253.3(TERT):c.246C>T (p.Ala82=)
|
|
|
NM_198253.3(TERT):c.2471C>G (p.Ser824Cys)
|
|
|
NM_198253.3(TERT):c.2473T>C (p.Tyr825His)
|
|
|
NM_198253.3(TERT):c.2476G>T (p.Val826Phe)
|
rs1060503009
|
|
NM_198253.3(TERT):c.247C>T (p.Arg83Ter)
|
rs867642414
|
|
NM_198253.3(TERT):c.2481G>A (p.Gln827=)
|
rs915422897
|
|
NM_198253.3(TERT):c.248G>C (p.Arg83Pro)
|
|
|
NM_198253.3(TERT):c.2490G>A (p.Gly830=)
|
|
|
NM_198253.3(TERT):c.2490G>T (p.Gly830=)
|
rs1363389549
|
|
NM_198253.3(TERT):c.2493C>A (p.Ile831=)
|
|
|
NM_198253.3(TERT):c.2493C>T (p.Ile831=)
|
rs1748795204
|
|
NM_198253.3(TERT):c.2495C>T (p.Pro832Leu)
|
rs1748794843
|
|
NM_198253.3(TERT):c.2496G>C (p.Pro832=)
|
|
|
NM_198253.3(TERT):c.2496G>T (p.Pro832=)
|
|
|
NM_198253.3(TERT):c.24A>G (p.Arg8=)
|
rs2126692983
|
|
NM_198253.3(TERT):c.2505C>G (p.Ser835=)
|
rs2126607523
|
|
NM_198253.3(TERT):c.2508C>T (p.Ile836=)
|
|
|
NM_198253.3(TERT):c.2509C>T (p.Leu837Phe)
|
|
|
NM_198253.3(TERT):c.2511C>A (p.Leu837=)
|
rs374940572
|
|
NM_198253.3(TERT):c.2511C>G (p.Leu837=)
|
|
|
NM_198253.3(TERT):c.2514C>T (p.Ser838=)
|
rs2126607485
|
|
NM_198253.3(TERT):c.2517G>C (p.Thr839=)
|
|
|
NM_198253.3(TERT):c.2518C>T (p.Leu840=)
|
rs1029677700
|
|
NM_198253.3(TERT):c.2523C>G (p.Leu841=)
|
rs1554039733
|
|
NM_198253.3(TERT):c.2525G>A (p.Cys842Tyr)
|
rs1748789851
|
|
NM_198253.3(TERT):c.2526C>T (p.Cys842=)
|
|
|
NM_198253.3(TERT):c.2527A>G (p.Ser843Gly)
|
rs1554039732
|
|
NM_198253.3(TERT):c.2529C>T (p.Ser843=)
|
rs1268553346
|
|
NM_198253.3(TERT):c.252G>C (p.Val84=)
|
|
|
NM_198253.3(TERT):c.2532G>A (p.Leu844=)
|
|
|
NM_198253.3(TERT):c.2535C>T (p.Cys845=)
|
|
|
NM_198253.3(TERT):c.2540dup (p.Asp848fs)
|
rs1748786633
|
|
NM_198253.3(TERT):c.2541C>A (p.Gly847=)
|
|
|
NM_198253.3(TERT):c.2542G>A (p.Asp848Asn)
|
rs1003575407
|
|
NM_198253.3(TERT):c.2544C>T (p.Asp848=)
|
|
|
NM_198253.3(TERT):c.2548_2563del (p.Glu850fs)
|
|
|
NM_198253.3(TERT):c.2555A>G (p.Lys852Arg)
|
|
|
NM_198253.3(TERT):c.2556G>A (p.Lys852=)
|
rs1579560410
|
|
NM_198253.3(TERT):c.2557C>T (p.Leu853=)
|
rs375042320
|
|
NM_198253.3(TERT):c.2559G>A (p.Leu853=)
|
rs2126607258
|
|
NM_198253.3(TERT):c.2559G>C (p.Leu853=)
|
|
|
NM_198253.3(TERT):c.2562T>G (p.Phe854Leu)
|
rs2126607250
|
|
NM_198253.3(TERT):c.2564C>A (p.Ala855Glu)
|
|
|
NM_198253.3(TERT):c.2565G>A (p.Ala855=)
|
rs769077049
|
|
NM_198253.3(TERT):c.2568G>T (p.Gly856=)
|
|
|
NM_198253.3(TERT):c.2574G>A (p.Arg858=)
|
rs2126607145
|
|
NM_198253.3(TERT):c.2575C>T (p.Arg859Trp)
|
rs876658018
|
|
NM_198253.3(TERT):c.2577G>C (p.Arg859=)
|
rs1554039723
|
|
NM_198253.3(TERT):c.2578G>A (p.Asp860Asn)
|
rs1748780421
|
|
NM_198253.3(TERT):c.2579A>G (p.Asp860Gly)
|
rs2126607112
|
|
NM_198253.3(TERT):c.2581G>A (p.Gly861Arg)
|
rs1554039721
|
|
NM_198253.3(TERT):c.2582+13C>A
|
|
|
NM_198253.3(TERT):c.2582+13C>G
|
|
|
NM_198253.3(TERT):c.2582+13C>T
|
rs1748778971
|
|
NM_198253.3(TERT):c.2582+17C>A
|
|
|
NM_198253.3(TERT):c.2582+18C>G
|
rs2126607004
|
|
NM_198253.3(TERT):c.2582+18C>T
|
rs2126607004
|
|
NM_198253.3(TERT):c.2582+3G>A
|
rs1748779829
|
|
NM_198253.3(TERT):c.2582+6G>A
|
rs2126607087
|
|
NM_198253.3(TERT):c.2582+6_2582+14del
|
|
|
NM_198253.3(TERT):c.2582+7C>T
|
rs766415474
|
|
NM_198253.3(TERT):c.2582+8del
|
rs2126607068
|
|
NM_198253.3(TERT):c.2582+9T>C
|
|
|
NM_198253.3(TERT):c.2583-10C>A
|
|
|
NM_198253.3(TERT):c.2583-10C>T
|
rs2126601591
|
|
NM_198253.3(TERT):c.2583-15T>C
|
|
|
NM_198253.3(TERT):c.2583-19G>A
|
|
|
NM_198253.3(TERT):c.2583-2A>C
|
rs111576740
|
|
NM_198253.3(TERT):c.2583-3T>C
|
rs111436818
|
|
NM_198253.3(TERT):c.2583-4T>G
|
rs2126601566
|
|
NM_198253.3(TERT):c.2583-6T>C
|
|
|
NM_198253.3(TERT):c.2583-8T>C
|
rs2126601585
|
|
NM_198253.3(TERT):c.2583G>A (p.Gly861=)
|
|
|
NM_198253.3(TERT):c.2586G>A (p.Leu862=)
|
|
|
NM_198253.3(TERT):c.2589C>G (p.Leu863=)
|
|
|
NM_198253.3(TERT):c.2589C>T (p.Leu863=)
|
rs1748620153
|
|
NM_198253.3(TERT):c.2590C>T (p.Leu864=)
|
rs777358007
|
|
NM_198253.3(TERT):c.2591T>C (p.Leu864Pro)
|
rs1561194110
|
|
NM_198253.3(TERT):c.2592G>C (p.Leu864=)
|
|
|
NM_198253.3(TERT):c.2593C>T (p.Arg865Cys)
|
rs372868296
|
|
NM_198253.3(TERT):c.2594G>T (p.Arg865Leu)
|
|
|
NM_198253.3(TERT):c.2596T>C (p.Leu866=)
|
rs1060504798
|
|
NM_198253.3(TERT):c.2599G>A (p.Val867Met)
|
rs201159197
|
|
NM_198253.3(TERT):c.2604T>C (p.Asp868=)
|
rs1579558147
|
|
NM_198253.3(TERT):c.2605G>T (p.Asp869Tyr)
|
rs1748617474
|
|
NM_198253.3(TERT):c.2607T>C (p.Asp869=)
|
|
|
NM_198253.3(TERT):c.2608T>A (p.Phe870Ile)
|
rs1748617178
|
|
NM_198253.3(TERT):c.2612T>G (p.Leu871Trp)
|
rs1748616956
|
|
NM_198253.3(TERT):c.2616G>C (p.Leu872Phe)
|
rs1561194081
|
|
NM_198253.3(TERT):c.2619G>A (p.Val873=)
|
rs1579558137
|
|
NM_198253.3(TERT):c.261G>T (p.Arg87Ser)
|
rs1033845124
|
|
NM_198253.3(TERT):c.2622A>C (p.Thr874=)
|
|
|
NM_198253.3(TERT):c.2626C>A (p.His876Asn)
|
rs1483412488
|
|
NM_198253.3(TERT):c.2628C>T (p.His876=)
|
rs199422303
|
|
NM_198253.3(TERT):c.2630_2634del (p.Leu877fs)
|
|
|
NM_198253.3(TERT):c.2637C>G (p.His879Gln)
|
rs1307380469
|
|
NM_198253.3(TERT):c.2637C>T (p.His879=)
|
rs1307380469
|
|
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr)
|
rs1748613571
|
|
NM_198253.3(TERT):c.2640G>C (p.Ala880=)
|
rs754776542
|
|
NM_198253.3(TERT):c.2642A>T (p.Lys881Ile)
|
rs751767277
|
|
NM_198253.3(TERT):c.2645C>G (p.Thr882Ser)
|
|
|
NM_198253.3(TERT):c.2649C>T (p.Phe883=)
|
|
|
NM_198253.3(TERT):c.264G>A (p.Leu88=)
|
rs768398792
|
|
NM_198253.3(TERT):c.264G>T (p.Leu88=)
|
rs768398792
|
|
NM_198253.3(TERT):c.2654+13C>T
|
rs1427528815
|
|
NM_198253.3(TERT):c.2654+14C>G
|
|
|
NM_198253.3(TERT):c.2654+15G>T
|
rs372081008
|
|
NM_198253.3(TERT):c.2654+17G>T
|
|
|
NM_198253.3(TERT):c.2654+19G>A
|
|
|
NM_198253.3(TERT):c.2654+1G>C
|
|
|
NM_198253.3(TERT):c.2654+20_2654+21delinsAG
|
rs2126601066
|
|
NM_198253.3(TERT):c.2654+5G>A
|
|
|
NM_198253.3(TERT):c.2654+6G>A
|
|
|
NM_198253.3(TERT):c.2655-11C>G
|
|
|
NM_198253.3(TERT):c.2655-12C>T
|
|
|
NM_198253.3(TERT):c.2655-13C>T
|
rs746044451
|
|
NM_198253.3(TERT):c.2655-14C>T
|
|
|
NM_198253.3(TERT):c.2655-19C>T
|
rs1319828193
|
|
NM_198253.3(TERT):c.2655-20A>G
|
|
|
NM_198253.3(TERT):c.2655-5C>T
|
rs2126595480
|
|
NM_198253.3(TERT):c.2655-7G>A
|
|
|
NM_198253.3(TERT):c.2655-7G>C
|
|
|
NM_198253.3(TERT):c.2655-8T>C
|
|
|
NM_198253.3(TERT):c.2655-9del
|
rs1060504795
|
|
NM_198253.3(TERT):c.2655G>A (p.Arg885=)
|
rs754372863
|
|
NM_198253.3(TERT):c.2658C>A (p.Thr886=)
|
rs371744235
|
|
NM_198253.3(TERT):c.2658C>T (p.Thr886=)
|
rs371744235
|
|
NM_198253.3(TERT):c.2659C>T (p.Leu887=)
|
rs2126595430
|
|
NM_198253.3(TERT):c.2661G>A (p.Leu887=)
|
rs756519152
|
|
NM_198253.3(TERT):c.2669G>A (p.Gly890Asp)
|
|
|
NM_198253.3(TERT):c.2671G>A (p.Val891Ile)
|
rs2126595366
|
|
NM_198253.3(TERT):c.2673C>T (p.Val891=)
|
|
|
NM_198253.3(TERT):c.2674C>T (p.Pro892Ser)
|
|
|
NM_198253.3(TERT):c.2676T>C (p.Pro892=)
|
|
|
NM_198253.3(TERT):c.2677G>C (p.Glu893Gln)
|
rs2126595355
|
|
NM_198253.3(TERT):c.267C>T (p.Cys89=)
|
rs2126690739
|
|
NM_198253.3(TERT):c.2682T>C (p.Tyr894=)
|
rs2126595345
|
|
NM_198253.3(TERT):c.2685C>T (p.Gly895=)
|
rs2126595338
|
|
NM_198253.3(TERT):c.2689G>T (p.Val897Leu)
|
rs559028617
|
|
NM_198253.3(TERT):c.2691G>A (p.Val897=)
|
rs1748462417
|
|
NM_198253.3(TERT):c.2692G>C (p.Val898Leu)
|
|
|
NM_198253.3(TERT):c.2696A>C (p.Asn899Thr)
|
rs1748462245
|
|
NM_198253.3(TERT):c.26C>T (p.Ala9Val)
|
|
|
NM_198253.3(TERT):c.2701C>A (p.Arg901=)
|
rs199422304
|
|
NM_198253.3(TERT):c.2703G>T (p.Arg901=)
|
rs764875699
|
|
NM_198253.3(TERT):c.2704A>T (p.Lys902Ter)
|
rs1748461171
|
|
NM_198253.3(TERT):c.2706G>A (p.Lys902=)
|
|
|
NM_198253.3(TERT):c.2709A>G (p.Thr903=)
|
|
|
NM_198253.3(TERT):c.271C>T (p.Arg91Cys)
|
rs1751268783
|
|
NM_198253.3(TERT):c.2724T>G (p.Pro908=)
|
rs1748459811
|
|
NM_198253.3(TERT):c.2725G>A (p.Val909Ile)
|
rs537649320
|
|
NM_198253.3(TERT):c.2733C>G (p.Asp911Glu)
|
|
|
NM_198253.3(TERT):c.2734G>A (p.Glu912Lys)
|
rs746883330
|
|
NM_198253.3(TERT):c.2736G>A (p.Glu912=)
|
rs775289969
|
|
NM_198253.3(TERT):c.2738C>G (p.Ala913Gly)
|
rs2126595114
|
|
NM_198253.3(TERT):c.2738C>T (p.Ala913Val)
|
|
|
NM_198253.3(TERT):c.273C>T (p.Arg91=)
|
rs2126690718
|
|
NM_198253.3(TERT):c.2740C>T (p.Leu914=)
|
rs1554039274
|
|
NM_198253.3(TERT):c.2743G>A (p.Gly915Ser)
|
rs1579555878
|
|
NM_198253.3(TERT):c.2746G>A (p.Gly916Ser)
|
rs1189683846
|
|
NM_198253.3(TERT):c.2747G>A (p.Gly916Asp)
|
rs2126595048
|
|
NM_198253.3(TERT):c.274G>A (p.Gly92Ser)
|
|
|
NM_198253.3(TERT):c.2750C>A (p.Thr917Lys)
|
rs779102560
|
|
NM_198253.3(TERT):c.2751G>T (p.Thr917=)
|
rs375200599
|
|
NM_198253.3(TERT):c.2752G>A (p.Ala918Thr)
|
rs1748456485
|
|
NM_198253.3(TERT):c.2752del (p.Ala918fs)
|
|
|
NM_198253.3(TERT):c.2753C>T (p.Ala918Val)
|
|
|
NM_198253.3(TERT):c.2754T>A (p.Ala918=)
|
rs2126594987
|
|
NM_198253.3(TERT):c.2758G>A (p.Val920Ile)
|
rs1748456126
|
|
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu)
|
rs387907251
|
|
NM_198253.3(TERT):c.2769G>T (p.Pro923=)
|
|
|
NM_198253.3(TERT):c.2772C>G (p.Ala924=)
|
rs367672336
|
|
NM_198253.3(TERT):c.2773C>T (p.His925Tyr)
|
rs1748455013
|
|
NM_198253.3(TERT):c.2775C>A (p.His925Gln)
|
rs34528119
|
|
NM_198253.3(TERT):c.2777G>C (p.Gly926Ala)
|
|
|
NM_198253.3(TERT):c.2779C>T (p.Leu927=)
|
|
|
NM_198253.3(TERT):c.2780T>C (p.Leu927Pro)
|
|
|
NM_198253.3(TERT):c.2783T>G (p.Phe928Cys)
|
rs1748453531
|
|
NM_198253.3(TERT):c.2787C>G (p.Pro929=)
|
rs1579555772
|
|
NM_198253.3(TERT):c.2789G>T (p.Trp930Leu)
|
rs1748452946
|
|
NM_198253.3(TERT):c.278C>A (p.Ala93Glu)
|
|
|
NM_198253.3(TERT):c.278C>G (p.Ala93Gly)
|
|
|
NM_198253.3(TERT):c.278C>T (p.Ala93Val)
|
rs1751268584
|
|
NM_198253.3(TERT):c.2790G>A (p.Trp930Ter)
|
|
|
NM_198253.3(TERT):c.2794G>A (p.Gly932Ser)
|
|
|
NM_198253.3(TERT):c.2796C>G (p.Gly932=)
|
rs375675196
|
|
NM_198253.3(TERT):c.2799G>T (p.Leu933=)
|
|
|
NM_198253.3(TERT):c.27C>A (p.Ala9=)
|
rs1033959815
|
|
NM_198253.3(TERT):c.27C>G (p.Ala9=)
|
rs1033959815
|
|
NM_198253.3(TERT):c.27C>T (p.Ala9=)
|
rs1033959815
|
|
NM_198253.3(TERT):c.2806G>C (p.Asp936His)
|
|
|
NM_198253.3(TERT):c.2808_2815del (p.Thr937fs)
|
|
|
NM_198253.3(TERT):c.280A>C (p.Lys94Gln)
|
rs1751268378
|
|
NM_198253.3(TERT):c.2811C>G (p.Thr937=)
|
|
|
NM_198253.3(TERT):c.2811C>T (p.Thr937=)
|
|
|
NM_198253.3(TERT):c.2813G>A (p.Arg938Gln)
|
rs199741493
|
|
NM_198253.3(TERT):c.2814G>C (p.Arg938=)
|
rs1240836509
|
|
NM_198253.3(TERT):c.2815A>C (p.Thr939Pro)
|
|
|
NM_198253.3(TERT):c.2817C>A (p.Thr939=)
|
|
|
NM_198253.3(TERT):c.2823G>A (p.Glu941=)
|
rs1554039257
|
|
NM_198253.3(TERT):c.2826G>A (p.Val942=)
|
rs1476614975
|
|
NM_198253.3(TERT):c.282G>C (p.Lys94Asn)
|
rs1751268163
|
|
NM_198253.3(TERT):c.282G>T (p.Lys94Asn)
|
rs1751268163
|
|
NM_198253.3(TERT):c.2832C>A (p.Ser944Arg)
|
rs1192852544
|
|
NM_198253.3(TERT):c.2833G>A (p.Asp945Asn)
|
|
|
NM_198253.3(TERT):c.2835C>T (p.Asp945=)
|
rs1269153908
|
|
NM_198253.3(TERT):c.2836T>C (p.Tyr946His)
|
rs1748447400
|
|
NM_198253.3(TERT):c.2838C>T (p.Tyr946=)
|
rs2126594700
|
|
NM_198253.3(TERT):c.2841C>A (p.Ser947=)
|
|
|
NM_198253.3(TERT):c.2843+10C>G
|
|
|
NM_198253.3(TERT):c.2843+10C>T
|
|
|
NM_198253.3(TERT):c.2843+12T>A
|
|
|
NM_198253.3(TERT):c.2843+13G>C
|
|
|
NM_198253.3(TERT):c.2843+13G>T
|
|
|
NM_198253.3(TERT):c.2843+15C>T
|
|
|
NM_198253.3(TERT):c.2843+17G>T
|
|
|
NM_198253.3(TERT):c.2843+18G>A
|
rs1305170238
|
|
NM_198253.3(TERT):c.2843+18del
|
rs1421396209
|
|
NM_198253.3(TERT):c.2843+6C>A
|
rs372086160
|
|
NM_198253.3(TERT):c.2843+7G>T
|
|
|
NM_198253.3(TERT):c.2844-10T>C
|
rs1748161028
|
|
NM_198253.3(TERT):c.2844-10T>G
|
rs1748161028
|
|
NM_198253.3(TERT):c.2844-11C>G
|
rs769320387
|
|
NM_198253.3(TERT):c.2844-11dup
|
rs1491484726
|
|
NM_198253.3(TERT):c.2844-12C>A
|
rs199765802
|
|
NM_198253.3(TERT):c.2844-12C>G
|
rs199765802
|
|
NM_198253.3(TERT):c.2844-12C>T
|
rs199765802
|
|
NM_198253.3(TERT):c.2844-14C>T
|
|
|
NM_198253.3(TERT):c.2844-16C>A
|
|
|
NM_198253.3(TERT):c.2844-17del
|
|
|
NM_198253.3(TERT):c.2844-20C>T
|
|
|
NM_198253.3(TERT):c.2844-22_2844-4dup
|
rs2126584828
|
|
NM_198253.3(TERT):c.2844-3C>T
|
|
|
NM_198253.3(TERT):c.2844-6T>G
|
rs747472604
|
|
NM_198253.3(TERT):c.2844-8T>C
|
|
|
NM_198253.3(TERT):c.2844-9G>A
|
|
|
NM_198253.3(TERT):c.2851C>A (p.Arg951=)
|
rs370445231
|
|
NM_198253.3(TERT):c.2853G>A (p.Arg951=)
|
|
|
NM_198253.3(TERT):c.285C>A (p.Asn95Lys)
|
rs1751267963
|
|
NM_198253.3(TERT):c.285C>T (p.Asn95=)
|
rs1751267963
|
|
NM_198253.3(TERT):c.2860A>G (p.Ile954Val)
|
rs1748158658
|
|
NM_198253.3(TERT):c.2866G>A (p.Ala956Thr)
|
|
|
NM_198253.3(TERT):c.2874C>T (p.Leu958=)
|
|
|
NM_198253.3(TERT):c.2877C>A (p.Thr959=)
|
|
|
NM_198253.3(TERT):c.2877C>T (p.Thr959=)
|
|
|
NM_198253.3(TERT):c.2882A>C (p.Asn961Thr)
|
|
|
NM_198253.3(TERT):c.2882A>G (p.Asn961Ser)
|
rs1561190919
|
|
NM_198253.3(TERT):c.2883C>T (p.Asn961=)
|
|
|
NM_198253.3(TERT):c.2884C>A (p.Arg962Ser)
|
rs144697790
|
|
NM_198253.3(TERT):c.2887G>A (p.Gly963Ser)
|
rs201272197
|
|
NM_198253.3(TERT):c.2895G>A (p.Lys965=)
|
rs878855302
|
|
NM_198253.3(TERT):c.2897C>T (p.Ala966Val)
|
rs766236334
|
|
NM_198253.3(TERT):c.2899G>A (p.Gly967Arg)
|
|
|
NM_198253.3(TERT):c.2901G>A (p.Gly967=)
|
rs1554038813
|
|
NM_198253.3(TERT):c.2904G>A (p.Arg968=)
|
rs2126584578
|
|
NM_198253.3(TERT):c.2904G>C (p.Arg968Ser)
|
|
|
NM_198253.3(TERT):c.2906A>G (p.Asn969Ser)
|
|
|
NM_198253.3(TERT):c.2907C>G (p.Asn969Lys)
|
|
|
NM_198253.3(TERT):c.2908A>G (p.Met970Val)
|
rs762647113
|
|
NM_198253.3(TERT):c.2908A>T (p.Met970Leu)
|
rs762647113
|
|
NM_198253.3(TERT):c.290T>G (p.Leu97Arg)
|
|
|
NM_198253.3(TERT):c.2911C>G (p.Arg971Gly)
|
|
|
NM_198253.3(TERT):c.2911C>T (p.Arg971Cys)
|
rs2126584533
|
|
NM_198253.3(TERT):c.2912G>A (p.Arg971His)
|
rs1748153358
|
|
NM_198253.3(TERT):c.2914C>G (p.Arg972Gly)
|
|
|
NM_198253.3(TERT):c.2918A>C (p.Lys973Thr)
|
|
|
NM_198253.3(TERT):c.2918A>G (p.Lys973Arg)
|
|
|
NM_198253.3(TERT):c.2923T>C (p.Phe975Leu)
|
rs2126584472
|
|
NM_198253.3(TERT):c.2924_2925del (p.Phe975fs)
|
|
|
NM_198253.3(TERT):c.2927G>A (p.Gly976Glu)
|
rs1748151682
|
|
NM_198253.3(TERT):c.2929G>A (p.Val977Ile)
|
rs1482563385
|
|
NM_198253.3(TERT):c.2935C>A (p.Arg979=)
|
|
|
NM_198253.3(TERT):c.2935C>T (p.Arg979Trp)
|
rs199422305
|
|
NM_198253.3(TERT):c.2936G>A (p.Arg979Gln)
|
rs765566930
|
|
NM_198253.3(TERT):c.2938C>T (p.Leu980=)
|
rs1554038808
|
|
NM_198253.3(TERT):c.293C>A (p.Ala98Asp)
|
|
|
NM_198253.3(TERT):c.2943G>A (p.Lys981=)
|
rs2126584386
|
|
NM_198253.3(TERT):c.2943del (p.Lys981fs)
|
|
|
NM_198253.3(TERT):c.2944T>C (p.Cys982Arg)
|
|
|
NM_198253.3(TERT):c.2945G>A (p.Cys982Tyr)
|
rs1554038806
|
|
NM_198253.3(TERT):c.2945G>T (p.Cys982Phe)
|
rs1554038806
|
|
NM_198253.3(TERT):c.2947C>T (p.His983Tyr)
|
rs1554038803
|
|
NM_198253.3(TERT):c.2949C>T (p.His983=)
|
|
|
NM_198253.3(TERT):c.294C>G (p.Ala98=)
|
rs1751267765
|
|
NM_198253.3(TERT):c.2951G>A (p.Ser984Asn)
|
rs1748149112
|
|
NM_198253.3(TERT):c.2952C>G (p.Ser984Arg)
|
rs1159346733
|
|
NM_198253.3(TERT):c.2955G>A (p.Leu985=)
|
rs1748148397
|
|
NM_198253.3(TERT):c.2958T>C (p.Phe986=)
|
|
|
NM_198253.3(TERT):c.2959C>T (p.Leu987=)
|
|
|
NM_198253.3(TERT):c.2961G>A (p.Leu987=)
|
rs1453780688
|
|
NM_198253.3(TERT):c.2970+13_2970+15del
|
|
|
NM_198253.3(TERT):c.2970+14T>C
|
|
|
NM_198253.3(TERT):c.2970+18C>T
|
|
|
NM_198253.3(TERT):c.2970+1G>A
|
|
|
NM_198253.3(TERT):c.2970+2T>G
|
rs2126584187
|
|
NM_198253.3(TERT):c.2970+3G>A
|
|
|
NM_198253.3(TERT):c.2970+6C>T
|
rs1396703353
|
|
NM_198253.3(TERT):c.2970+7A>G
|
rs530914674
|
|
NM_198253.3(TERT):c.2971-10G>C
|
rs878855303
|
|
NM_198253.3(TERT):c.2971-11G>T
|
|
|
NM_198253.3(TERT):c.2971-14C>A
|
|
|
NM_198253.3(TERT):c.2971-14C>T
|
rs2126573743
|
|
NM_198253.3(TERT):c.2971-15_2971-12del
|
|
|
NM_198253.3(TERT):c.2971-18C>G
|
|
|
NM_198253.3(TERT):c.2971-18_2971-17del
|
|
|
NM_198253.3(TERT):c.2971-4C>G
|
rs750187788
|
|
NM_198253.3(TERT):c.2971-4_2971-3del
|
rs1463846007
|
|
NM_198253.3(TERT):c.2971-51_2971-16del
|
rs1197307883
|
|
NM_198253.3(TERT):c.2971-5T>C
|
|
|
NM_198253.3(TERT):c.2971-8G>A
|
rs1423133988
|
|
NM_198253.3(TERT):c.2971-8G>C
|
|
|
NM_198253.3(TERT):c.2973G>A (p.Val991=)
|
rs1554038546
|
|
NM_198253.3(TERT):c.2976C>T (p.Asn992=)
|
rs1036120126
|
|
NM_198253.3(TERT):c.2982C>T (p.Leu994=)
|
rs762178169
|
|
NM_198253.3(TERT):c.2987C>A (p.Thr996Lys)
|
rs1223394183
|
|
NM_198253.3(TERT):c.2995A>G (p.Thr999Ala)
|
rs1747930885
|
|
NM_198253.3(TERT):c.2996C>T (p.Thr999Ile)
|
|
|
NM_198253.3(TERT):c.3000C>T (p.Asn1000=)
|
rs1579547985
|
|
NM_198253.3(TERT):c.3001A>G (p.Ile1001Val)
|
rs1747930001
|
|
NM_198253.3(TERT):c.3006C>T (p.Tyr1002=)
|
rs760659103
|
|
NM_198253.3(TERT):c.300C>A (p.Gly100=)
|
|
|
NM_198253.3(TERT):c.3012C>T (p.Ile1004=)
|
rs1308544817
|
|
NM_198253.3(TERT):c.3013C>T (p.Leu1005Phe)
|
|
|
NM_198253.3(TERT):c.3015C>T (p.Leu1005=)
|
|
|
NM_198253.3(TERT):c.3016C>T (p.Leu1006=)
|
rs2126573390
|
|
NM_198253.3(TERT):c.3018G>T (p.Leu1006=)
|
|
|
NM_198253.3(TERT):c.301T>G (p.Phe101Val)
|
rs1554043101
|
|
NM_198253.3(TERT):c.3025G>T (p.Ala1009Ser)
|
rs1747928809
|
|
NM_198253.3(TERT):c.3026C>T (p.Ala1009Val)
|
rs866575708
|
|
NM_198253.3(TERT):c.3027G>C (p.Ala1009=)
|
rs775582757
|
|
NM_198253.3(TERT):c.3030C>T (p.Tyr1010=)
|
rs1747927866
|
|
NM_198253.3(TERT):c.3031A>C (p.Arg1011=)
|
rs2126573316
|
|
NM_198253.3(TERT):c.3032+12C>T
|
|
|
NM_198253.3(TERT):c.3032+16G>A
|
|
|
NM_198253.3(TERT):c.3032+16G>C
|
rs1172350272
|
|
NM_198253.3(TERT):c.3032+16G>T
|
|
|
NM_198253.3(TERT):c.3032+17G>T
|
|
|
NM_198253.3(TERT):c.3032+19G>C
|
|
|
NM_198253.3(TERT):c.3032+1G>C
|
|
|
NM_198253.3(TERT):c.3032+20T>C
|
rs1747925287
|
|
NM_198253.3(TERT):c.3032+9C>G
|
rs1747926384
|
|
NM_198253.3(TERT):c.3033-10A>G
|
|
|
NM_198253.3(TERT):c.3033-13G>T
|
|
|
NM_198253.3(TERT):c.3033-19C>G
|
|
|
NM_198253.3(TERT):c.3033-19C>T
|
|
|
NM_198253.3(TERT):c.3033-4_3033-3del
|
rs2126563014
|
|
NM_198253.3(TERT):c.3033-5C>T
|
rs1561187195
|
|
NM_198253.3(TERT):c.3033-7C>T
|
rs2126563044
|
|
NM_198253.3(TERT):c.3033G>A (p.Arg1011=)
|
rs1747651803
|
|
NM_198253.3(TERT):c.3037C>T (p.His1013Tyr)
|
|
|
NM_198253.3(TERT):c.303C>T (p.Phe101=)
|
|
|
NM_198253.3(TERT):c.3040G>A (p.Ala1014Thr)
|
|
|
NM_198253.3(TERT):c.3040G>T (p.Ala1014Ser)
|
rs1747650909
|
|
NM_198253.3(TERT):c.3042A>C (p.Ala1014=)
|
rs1337149388
|
|
NM_198253.3(TERT):c.3042A>T (p.Ala1014=)
|
rs1337149388
|
|
NM_198253.3(TERT):c.3045T>C (p.Cys1015=)
|
rs922374936
|
|
NM_198253.3(TERT):c.3048G>A (p.Val1016=)
|
rs1454370746
|
|
NM_198253.3(TERT):c.304G>T (p.Ala102Ser)
|
|
|
NM_198253.3(TERT):c.3050T>C (p.Leu1017Pro)
|
|
|
NM_198253.3(TERT):c.3057C>G (p.Leu1019=)
|
rs1747647964
|
|
NM_198253.3(TERT):c.305C>T (p.Ala102Val)
|
rs2126690624
|
|
NM_198253.3(TERT):c.3062T>G (p.Phe1021Cys)
|
rs2126562843
|
|
NM_198253.3(TERT):c.3063T>C (p.Phe1021=)
|
rs1554038261
|
|
NM_198253.3(TERT):c.3065A>T (p.His1022Leu)
|
rs878855304
|
|
NM_198253.3(TERT):c.306G>C (p.Ala102=)
|
rs2126690614
|
|
NM_198253.3(TERT):c.3072A>T (p.Gln1024His)
|
|
|
NM_198253.3(TERT):c.3073del (p.Val1025fs)
|
|
|
NM_198253.3(TERT):c.3074T>C (p.Val1025Ala)
|
rs1338054182
|
|
NM_198253.3(TERT):c.3075T>C (p.Val1025=)
|
|
|
NM_198253.3(TERT):c.3076T>G (p.Trp1026Gly)
|
rs1747645893
|
|
NM_198253.3(TERT):c.307_308delinsGG (p.Leu103Gly)
|
rs1751266537
|
|
NM_198253.3(TERT):c.3085C>T (p.Pro1029Ser)
|
rs2126562746
|
|
NM_198253.3(TERT):c.3087del (p.Thr1030fs)
|
|
|
NM_198253.3(TERT):c.3089C>T (p.Thr1030Ile)
|
|
|
NM_198253.3(TERT):c.308T>C (p.Leu103Pro)
|
|
|
NM_198253.3(TERT):c.3090A>G (p.Thr1030=)
|
rs1060504787
|
|
NM_198253.3(TERT):c.3094T>G (p.Phe1032Val)
|
|
|
NM_198253.3(TERT):c.3096C>T (p.Phe1032=)
|
|
|
NM_198253.3(TERT):c.3099G>A (p.Leu1033=)
|
|
|
NM_198253.3(TERT):c.3099G>C (p.Leu1033=)
|
rs2126562675
|
|
NM_198253.3(TERT):c.309G>A (p.Leu103=)
|
rs779738846
|
|
NM_198253.3(TERT):c.3100C>T (p.Arg1034Cys)
|
rs777672180
|
|
NM_198253.3(TERT):c.3107T>C (p.Ile1036Thr)
|
|
|
NM_198253.3(TERT):c.3108C>T (p.Ile1036=)
|
|
|
NM_198253.3(TERT):c.3110_3111del (p.Ile1036_Ser1037insTer)
|
rs1554038257
|
|
NM_198253.3(TERT):c.3111T>A (p.Ser1037=)
|
rs2126562598
|
|
NM_198253.3(TERT):c.3113A>C (p.Asp1038Ala)
|
rs1747641424
|
|
NM_198253.3(TERT):c.3114C>T (p.Asp1038=)
|
|
|
NM_198253.3(TERT):c.3115A>C (p.Thr1039Pro)
|
rs1747640936
|
|
NM_198253.3(TERT):c.3115A>G (p.Thr1039Ala)
|
rs1747640936
|
|
NM_198253.3(TERT):c.3117G>T (p.Thr1039=)
|
|
|
NM_198253.3(TERT):c.3118G>A (p.Ala1040Thr)
|
rs770144114
|
|
NM_198253.3(TERT):c.3118G>T (p.Ala1040Ser)
|
rs770144114
|
|
NM_198253.3(TERT):c.3120C>T (p.Ala1040=)
|
rs2126562525
|
|
NM_198253.3(TERT):c.3122C>G (p.Ser1041Cys)
|
|
|
NM_198253.3(TERT):c.3122C>T (p.Ser1041Phe)
|
rs2126562513
|
|
NM_198253.3(TERT):c.3124C>T (p.Leu1042Phe)
|
rs1333205745
|
|
NM_198253.3(TERT):c.312G>C (p.Leu104=)
|
rs757915567
|
|
NM_198253.3(TERT):c.3134C>G (p.Ser1045Cys)
|
rs1747638951
|
|
NM_198253.3(TERT):c.3135C>T (p.Ser1045=)
|
rs2126562436
|
|
NM_198253.3(TERT):c.3136A>G (p.Ile1046Val)
|
|
|
NM_198253.3(TERT):c.3138C>A (p.Ile1046=)
|
|
|
NM_198253.3(TERT):c.3138C>T (p.Ile1046=)
|
rs1747638242
|
|
NM_198253.3(TERT):c.3139C>T (p.Leu1047=)
|
|
|
NM_198253.3(TERT):c.3140T>C (p.Leu1047Pro)
|
rs1747637768
|
|
NM_198253.3(TERT):c.3144A>G (p.Lys1048=)
|
rs745389061
|
|
NM_198253.3(TERT):c.3146C>G (p.Ala1049Gly)
|
rs2126562351
|
|
NM_198253.3(TERT):c.3153C>A (p.Asn1051Lys)
|
|
|
NM_198253.3(TERT):c.3154G>A (p.Ala1052Thr)
|
rs968981940
|
|
NM_198253.3(TERT):c.3157+11G>A
|
|
|
NM_198253.3(TERT):c.3157+11G>T
|
|
|
NM_198253.3(TERT):c.3157+12T>C
|
|
|
NM_198253.3(TERT):c.3157+13G>C
|
|
|
NM_198253.3(TERT):c.3157+13G>T
|
|
|
NM_198253.3(TERT):c.3157+13del
|
rs1460764835
|
|
NM_198253.3(TERT):c.3157+14C>G
|
|
|
NM_198253.3(TERT):c.3157+14C>T
|
rs376641569
|
|
NM_198253.3(TERT):c.3157+17G>C
|
rs2126562187
|
|
NM_198253.3(TERT):c.3157+18G>A
|
rs2126562179
|
|
NM_198253.3(TERT):c.3157+1G>T
|
rs2126562296
|
|
NM_198253.3(TERT):c.3157+20C>A
|
rs2126562168
|
|
NM_198253.3(TERT):c.3157+5G>A
|
|
|
NM_198253.3(TERT):c.3157+7G>C
|
rs1747635282
|
|
NM_198253.3(TERT):c.3157+7G>T
|
|
|
NM_198253.3(TERT):c.3157+9A>G
|
|
|
NM_198253.3(TERT):c.3158-11T>C
|
rs2126560040
|
|
NM_198253.3(TERT):c.3158-11T>G
|
|
|
NM_198253.3(TERT):c.3158-13T>C
|
|
|
NM_198253.3(TERT):c.3158-13T>G
|
|
|
NM_198253.3(TERT):c.3158-14C>T
|
|
|
NM_198253.3(TERT):c.3158-17C>T
|
|
|
NM_198253.3(TERT):c.3158-19A>C
|
rs2126560067
|
|
NM_198253.3(TERT):c.3158-20C>T
|
|
|
NM_198253.3(TERT):c.3158-2A>C
|
|
|
NM_198253.3(TERT):c.3158-3del
|
rs748986490
|
|
NM_198253.3(TERT):c.3158-3dup
|
|
|
NM_198253.3(TERT):c.3158-4C>T
|
rs767207462
|
|
NM_198253.3(TERT):c.3158-5C>A
|
|
|
NM_198253.3(TERT):c.3158-5C>T
|
rs776804142
|
|
NM_198253.3(TERT):c.3158-6C>G
|
|
|
NM_198253.3(TERT):c.3158-6C>T
|
rs1477263719
|
|
NM_198253.3(TERT):c.3158-7C>T
|
rs1191106139
|
|
NM_198253.3(TERT):c.3158-8T>C
|
rs998490025
|
|
NM_198253.3(TERT):c.3158-8del
|
rs2126560028
|
|
NM_198253.3(TERT):c.3158-9T>A
|
|
|
NM_198253.3(TERT):c.3158G>A (p.Gly1053Glu)
|
|
|
NM_198253.3(TERT):c.3159G>C (p.Gly1053=)
|
rs200002330
|
|
NM_198253.3(TERT):c.3168G>T (p.Leu1056=)
|
rs1747575515
|
|
NM_198253.3(TERT):c.316G>T (p.Gly106Trp)
|
rs1751265277
|
|
NM_198253.3(TERT):c.316_317inv (p.Gly106Pro)
|
|
|
NM_198253.3(TERT):c.3170G>A (p.Gly1057Glu)
|
|
|
NM_198253.3(TERT):c.3172G>A (p.Ala1058Thr)
|
|
|
NM_198253.3(TERT):c.3173C>T (p.Ala1058Val)
|
|
|
NM_198253.3(TERT):c.3176A>G (p.Lys1059Arg)
|
rs1561186570
|
|
NM_198253.3(TERT):c.3177G>C (p.Lys1059Asn)
|
rs1747574274
|
|
NM_198253.3(TERT):c.317G>A (p.Gly106Glu)
|
rs1024983534
|
|
NM_198253.3(TERT):c.3181G>A (p.Ala1061Thr)
|
rs1418488828
|
|
NM_198253.3(TERT):c.3181G>T (p.Ala1061Ser)
|
rs1418488828
|
|
NM_198253.3(TERT):c.3183C>G (p.Ala1061=)
|
|
|
NM_198253.3(TERT):c.3184G>T (p.Ala1062Ser)
|
rs35719940
|
|
NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser)
|
rs938938578
|
|
NM_198253.3(TERT):c.3189C>A (p.Gly1063=)
|
rs1330114272
|
|
NM_198253.3(TERT):c.318G>T (p.Gly106=)
|
|
|
NM_198253.3(TERT):c.3191C>T (p.Pro1064Leu)
|
rs886059831
|
|
NM_198253.3(TERT):c.3193C>G (p.Leu1065Val)
|
rs1747571212
|
|
NM_198253.3(TERT):c.3198C>A (p.Pro1066=)
|
|
|
NM_198253.3(TERT):c.3199T>G (p.Ser1067Ala)
|
rs1747570810
|
|
NM_198253.3(TERT):c.319G>A (p.Ala107Thr)
|
rs1751264625
|
|
NM_198253.3(TERT):c.319G>C (p.Ala107Pro)
|
rs1751264625
|
|
NM_198253.3(TERT):c.319G>T (p.Ala107Ser)
|
rs1751264625
|
|
NM_198253.3(TERT):c.3200C>A (p.Ser1067Tyr)
|
rs1579542703
|
|
NM_198253.3(TERT):c.3202G>C (p.Glu1068Gln)
|
|
|
NM_198253.3(TERT):c.3204G>T (p.Glu1068Asp)
|
|
|
NM_198253.3(TERT):c.3207C>G (p.Ala1069=)
|
|
|
NM_198253.3(TERT):c.320C>A (p.Ala107Asp)
|
rs1751264456
|
|
NM_198253.3(TERT):c.3211C>T (p.Gln1071Ter)
|
rs1747568641
|
|
NM_198253.3(TERT):c.3212A>G (p.Gln1071Arg)
|
|
|
NM_198253.3(TERT):c.3213G>T (p.Gln1071His)
|
rs1579542670
|
|
NM_198253.3(TERT):c.3222C>T (p.Cys1074=)
|
|
|
NM_198253.3(TERT):c.3226C>G (p.Gln1076Glu)
|
|
|
NM_198253.3(TERT):c.3229G>C (p.Ala1077Pro)
|
rs1579542647
|
|
NM_198253.3(TERT):c.322C>A (p.Arg108Ser)
|
rs1478218565
|
|
NM_198253.3(TERT):c.322C>T (p.Arg108Cys)
|
|
|
NM_198253.3(TERT):c.3235del (p.Leu1079fs)
|
rs1270172263
|
|
NM_198253.3(TERT):c.3237G>A (p.Leu1079=)
|
rs2126559607
|
|
NM_198253.3(TERT):c.323G>T (p.Arg108Leu)
|
|
|
NM_198253.3(TERT):c.3244C>G (p.Leu1082Val)
|
|
|
NM_198253.3(TERT):c.3248C>G (p.Thr1083Ser)
|
rs997885750
|
|
NM_198253.3(TERT):c.324C>G (p.Arg108=)
|
|
|
NM_198253.3(TERT):c.3251del (p.Arg1084fs)
|
|
|
NM_198253.3(TERT):c.3252A>T (p.Arg1084=)
|
rs757638312
|
|
NM_198253.3(TERT):c.3255C>T (p.His1085=)
|
rs953571477
|
|
NM_198253.3(TERT):c.3256C>G (p.Arg1086Gly)
|
rs1747563544
|
|
NM_198253.3(TERT):c.3256C>T (p.Arg1086Cys)
|
rs1747563544
|
|
NM_198253.3(TERT):c.3268G>C (p.Val1090Leu)
|
rs121918664
|
|
NM_198253.3(TERT):c.3272C>G (p.Pro1091Arg)
|
|
|
NM_198253.3(TERT):c.3272C>T (p.Pro1091Leu)
|
rs1217591907
|
|
NM_198253.3(TERT):c.3273A>C (p.Pro1091=)
|
|
|
NM_198253.3(TERT):c.3276C>A (p.Leu1092=)
|
|
|
NM_198253.3(TERT):c.327G>A (p.Gly109=)
|
rs1060504786
|
|
NM_198253.3(TERT):c.327G>T (p.Gly109=)
|
rs1060504786
|
|
NM_198253.3(TERT):c.3282G>T (p.Gly1094=)
|
|
|
NM_198253.3(TERT):c.3285A>C (p.Ser1095=)
|
rs2126559367
|
|
NM_198253.3(TERT):c.3288C>T (p.Leu1096=)
|
rs2126559357
|
|
NM_198253.3(TERT):c.3289A>C (p.Arg1097=)
|
|
|
NM_198253.3(TERT):c.3292A>C (p.Thr1098Pro)
|
|
|
NM_198253.3(TERT):c.3295+10G>A
|
rs376994291
|
|
NM_198253.3(TERT):c.3295+12T>C
|
|
|
NM_198253.3(TERT):c.3295+13G>A
|
rs1747558247
|
|
NM_198253.3(TERT):c.3295+1G>A
|
|
|
NM_198253.3(TERT):c.3295+20A>G
|
|
|
NM_198253.3(TERT):c.3295+2C>T
|
rs2126559316
|
|
NM_198253.3(TERT):c.3295+5G>A
|
rs2126559305
|
|
NM_198253.3(TERT):c.3295+5G>C
|
|
|
NM_198253.3(TERT):c.3295+6T>C
|
rs2126559299
|
|
NM_198253.3(TERT):c.3295+7G>A
|
rs1579542562
|
|
NM_198253.3(TERT):c.3295G>A (p.Ala1099Thr)
|
rs2126559326
|
|
NM_198253.3(TERT):c.3296-11T>G
|
rs2126557489
|
|
NM_198253.3(TERT):c.3296-15A>G
|
|
|
NM_198253.3(TERT):c.3296-16G>A
|
|
|
NM_198253.3(TERT):c.3296-20G>A
|
rs2126557523
|
|
NM_198253.3(TERT):c.3296-3C>T
|
|
|
NM_198253.3(TERT):c.3296-4G>A
|
rs780229179
|
|
NM_198253.3(TERT):c.3296-4G>C
|
|
|
NM_198253.3(TERT):c.3296-4G>T
|
|
|
NM_198253.3(TERT):c.3296-5C>A
|
|
|
NM_198253.3(TERT):c.3296-5C>G
|
rs371015305
|
|
NM_198253.3(TERT):c.3296-7C>T
|
rs1579541812
|
|
NM_198253.3(TERT):c.3296-9G>T
|
rs1579541842
|
|
NM_198253.3(TERT):c.3299A>G (p.Gln1100Arg)
|
|
|
NM_198253.3(TERT):c.329G>A (p.Gly110Asp)
|
|
|
NM_198253.3(TERT):c.329G>C (p.Gly110Ala)
|
rs1751262771
|
|
NM_198253.3(TERT):c.329G>T (p.Gly110Val)
|
|
|
NM_198253.3(TERT):c.329del (p.Gly110fs)
|
rs1554043093
|
|
NM_198253.3(TERT):c.32G>C (p.Arg11Pro)
|
|
|
NM_198253.3(TERT):c.3300G>A (p.Gln1100=)
|
|
|
NM_198253.3(TERT):c.3304C>G (p.Gln1102Glu)
|
|
|
NM_198253.3(TERT):c.3306G>A (p.Gln1102=)
|
|
|
NM_198253.3(TERT):c.3307C>G (p.Leu1103Val)
|
|
|
NM_198253.3(TERT):c.3309G>C (p.Leu1103=)
|
|
|
NM_198253.3(TERT):c.3310A>T (p.Ser1104Cys)
|
rs1579541768
|
|
NM_198253.3(TERT):c.3313C>T (p.Arg1105Trp)
|
rs945881076
|
|
NM_198253.3(TERT):c.3315G>C (p.Arg1105=)
|
|
|
NM_198253.3(TERT):c.3317A>G (p.Lys1106Arg)
|
rs1579541749
|
|
NM_198253.3(TERT):c.331C>T (p.Pro111Ser)
|
rs1248729123
|
|
NM_198253.3(TERT):c.3321C>G (p.Leu1107=)
|
rs1382097700
|
|
NM_198253.3(TERT):c.3321C>T (p.Leu1107=)
|
rs1382097700
|
|
NM_198253.3(TERT):c.3322C>T (p.Pro1108Ser)
|
|
|
NM_198253.3(TERT):c.3323C>A (p.Pro1108Gln)
|
|
|
NM_198253.3(TERT):c.3323C>G (p.Pro1108Arg)
|
rs376255453
|
|
NM_198253.3(TERT):c.3324G>C (p.Pro1108=)
|
rs35033501
|
|
NM_198253.3(TERT):c.3324G>T (p.Pro1108=)
|
|
|
NM_198253.3(TERT):c.3325G>A (p.Gly1109Arg)
|
rs2126557234
|
|
NM_198253.3(TERT):c.3326G>A (p.Gly1109Glu)
|
|
|
NM_198253.3(TERT):c.3328A>G (p.Thr1110Ala)
|
|
|
NM_198253.3(TERT):c.332C>G (p.Pro111Arg)
|
rs1060503007
|
|
NM_198253.3(TERT):c.3332C>A (p.Thr1111Lys)
|
|
|
NM_198253.3(TERT):c.3333G>T (p.Thr1111=)
|
rs200102606
|
|
NM_198253.3(TERT):c.3334C>A (p.Leu1112Met)
|
rs1579541689
|
|
NM_198253.3(TERT):c.3334C>T (p.Leu1112=)
|
|
|
NM_198253.3(TERT):c.3335T>C (p.Leu1112Pro)
|
|
|
NM_198253.3(TERT):c.3336G>A (p.Leu1112=)
|
|
|
NM_198253.3(TERT):c.3336G>C (p.Leu1112=)
|
rs1554038061
|
|
NM_198253.3(TERT):c.3337A>C (p.Thr1113Pro)
|
|
|
NM_198253.3(TERT):c.3338C>T (p.Thr1113Ile)
|
rs1404530857
|
|
NM_198253.3(TERT):c.333C>A (p.Pro111=)
|
|
|
NM_198253.3(TERT):c.333C>G (p.Pro111=)
|
|
|
NM_198253.3(TERT):c.333C>T (p.Pro111=)
|
rs1219645009
|
|
NM_198253.3(TERT):c.3340G>A (p.Ala1114Thr)
|
|
|
NM_198253.3(TERT):c.3341C>T (p.Ala1114Val)
|
|
|
NM_198253.3(TERT):c.3342C>T (p.Ala1114=)
|
rs2126557093
|
|
NM_198253.3(TERT):c.3346G>A (p.Glu1116Lys)
|
rs1196160200
|
|
NM_198253.3(TERT):c.3346G>C (p.Glu1116Gln)
|
rs1196160200
|
|
NM_198253.3(TERT):c.3350C>A (p.Ala1117Asp)
|
rs372822033
|
|
NM_198253.3(TERT):c.3350C>T (p.Ala1117Val)
|
rs372822033
|
|
NM_198253.3(TERT):c.3352G>T (p.Ala1118Ser)
|
rs756628621
|
|
NM_198253.3(TERT):c.3355G>A (p.Ala1119Thr)
|
|
|
NM_198253.3(TERT):c.3358A>C (p.Asn1120His)
|
rs781651959
|
|
NM_198253.3(TERT):c.335C>G (p.Pro112Arg)
|
|
|
NM_198253.3(TERT):c.3360C>T (p.Asn1120=)
|
|
|
NM_198253.3(TERT):c.3361C>A (p.Pro1121Thr)
|
|
|
NM_198253.3(TERT):c.3361C>G (p.Pro1121Ala)
|
|
|
NM_198253.3(TERT):c.3362C>G (p.Pro1121Arg)
|
rs1554038054
|
|
NM_198253.3(TERT):c.3362C>T (p.Pro1121Leu)
|
rs1554038054
|
|
NM_198253.3(TERT):c.3367C>G (p.Leu1123Val)
|
rs1554038052
|
|
NM_198253.3(TERT):c.336C>G (p.Pro112=)
|
rs2126690338
|
|
NM_198253.3(TERT):c.336C>T (p.Pro112=)
|
rs2126690338
|
|
NM_198253.3(TERT):c.336dup (p.Glu113fs)
|
rs1060502990
|
|
NM_198253.3(TERT):c.3371C>T (p.Pro1124Leu)
|
rs2126556867
|
|
NM_198253.3(TERT):c.3372C>G (p.Pro1124=)
|
rs2126556860
|
|
NM_198253.3(TERT):c.3373T>G (p.Ser1125Ala)
|
|
|
NM_198253.3(TERT):c.3381C>T (p.Phe1127=)
|
rs2126556832
|
|
NM_198253.3(TERT):c.3386C>A (p.Thr1129Asn)
|
rs775095158
|
|
NM_198253.3(TERT):c.3386C>G (p.Thr1129Ser)
|
rs775095158
|
|
NM_198253.3(TERT):c.3391C>T (p.Leu1131=)
|
|
|
NM_198253.3(TERT):c.33C>T (p.Arg11=)
|
|
|
NM_198253.3(TERT):c.341C>T (p.Ala114Val)
|
|
|
NM_198253.3(TERT):c.342C>T (p.Ala114=)
|
|
|
NM_198253.3(TERT):c.343T>C (p.Phe115Leu)
|
|
|
NM_198253.3(TERT):c.345C>T (p.Phe115=)
|
|
|
NM_198253.3(TERT):c.348C>A (p.Thr116=)
|
|
|
NM_198253.3(TERT):c.348C>T (p.Thr116=)
|
|
|
NM_198253.3(TERT):c.34T>C (p.Ser12Pro)
|
|
|
NM_198253.3(TERT):c.351C>T (p.Thr117=)
|
rs1554043084
|
|
NM_198253.3(TERT):c.352A>T (p.Ser118Cys)
|
rs1751258801
|
|
NM_198253.3(TERT):c.353G>A (p.Ser118Asn)
|
rs2126690251
|
|
NM_198253.3(TERT):c.354C>T (p.Ser118=)
|
rs2126690242
|
|
NM_198253.3(TERT):c.359G>C (p.Arg120Pro)
|
rs1554043083
|
|
NM_198253.3(TERT):c.360C>G (p.Arg120=)
|
|
|
NM_198253.3(TERT):c.360C>T (p.Arg120=)
|
rs1316553543
|
|
NM_198253.3(TERT):c.363C>G (p.Ser121Arg)
|
rs1751257484
|
|
NM_198253.3(TERT):c.365A>G (p.Tyr122Cys)
|
rs1751257287
|
|
NM_198253.3(TERT):c.369G>A (p.Leu123=)
|
|
|
NM_198253.3(TERT):c.369G>T (p.Leu123=)
|
rs1220227495
|
|
NM_198253.3(TERT):c.36C>A (p.Ser12=)
|
|
|
NM_198253.3(TERT):c.36C>T (p.Ser12=)
|
rs2126692838
|
|
NM_198253.3(TERT):c.370C>G (p.Pro124Ala)
|
rs2126690168
|
|
NM_198253.3(TERT):c.371C>T (p.Pro124Leu)
|
|
|
NM_198253.3(TERT):c.372C>T (p.Pro124=)
|
|
|
NM_198253.3(TERT):c.378G>A (p.Thr126=)
|
|
|
NM_198253.3(TERT):c.37C>T (p.Leu13=)
|
rs2126692825
|
|
NM_198253.3(TERT):c.384C>G (p.Thr128=)
|
|
|
NM_198253.3(TERT):c.384C>T (p.Thr128=)
|
|
|
NM_198253.3(TERT):c.389C>T (p.Ala130Val)
|
|
|
NM_198253.3(TERT):c.390A>C (p.Ala130=)
|
|
|
NM_198253.3(TERT):c.391C>G (p.Leu131Val)
|
rs1018793583
|
|
NM_198253.3(TERT):c.392T>G (p.Leu131Arg)
|
rs1579598607
|
|
NM_198253.3(TERT):c.395G>C (p.Arg132Pro)
|
|
|
NM_198253.3(TERT):c.397G>A (p.Gly133Arg)
|
|
|
NM_198253.3(TERT):c.399G>C (p.Gly133=)
|
rs767592753
|
|
NM_198253.3(TERT):c.39G>T (p.Leu13=)
|
rs1465590201
|
|
NM_198253.3(TERT):c.402C>A (p.Ser134Arg)
|
|
|
NM_198253.3(TERT):c.402C>G (p.Ser134Arg)
|
|
|
NM_198253.3(TERT):c.403G>C (p.Gly135Arg)
|
rs200843534
|
|
NM_198253.3(TERT):c.408G>A (p.Ala136=)
|
rs766794006
|
|
NM_198253.3(TERT):c.408G>C (p.Ala136=)
|
|
|
NM_198253.3(TERT):c.408G>T (p.Ala136=)
|
rs766794006
|
|
NM_198253.3(TERT):c.40C>A (p.Leu14Met)
|
|
|
NM_198253.3(TERT):c.40C>T (p.Leu14=)
|
rs2126692794
|
|
NM_198253.3(TERT):c.412G>A (p.Gly138Arg)
|
rs2126689938
|
|
NM_198253.3(TERT):c.413G>C (p.Gly138Ala)
|
|
|
NM_198253.3(TERT):c.414G>A (p.Gly138=)
|
rs767353485
|
|
NM_198253.3(TERT):c.414G>T (p.Gly138=)
|
rs767353485
|
|
NM_198253.3(TERT):c.416T>G (p.Leu139Arg)
|
rs1579598547
|
|
NM_198253.3(TERT):c.420G>C (p.Leu140=)
|
rs746660804
|
|
NM_198253.3(TERT):c.426C>T (p.Arg142=)
|
rs1579598521
|
|
NM_198253.3(TERT):c.427C>T (p.Arg143Cys)
|
rs1751246930
|
|
NM_198253.3(TERT):c.430G>A (p.Val144Met)
|
rs199422291
|
|
NM_198253.3(TERT):c.433G>A (p.Gly145Ser)
|
|
|
NM_198253.3(TERT):c.435C>G (p.Gly145=)
|
rs1751245880
|
|
NM_198253.3(TERT):c.438C>T (p.Asp146=)
|
rs1579598506
|
|
NM_198253.3(TERT):c.440A>G (p.Asp147Gly)
|
|
|
NM_198253.3(TERT):c.442G>T (p.Val148Leu)
|
rs745363596
|
|
NM_198253.3(TERT):c.447G>A (p.Leu149=)
|
rs778951942
|
|
NM_198253.3(TERT):c.447G>C (p.Leu149=)
|
rs778951942
|
|
NM_198253.3(TERT):c.448G>T (p.Val150Phe)
|
rs1751244550
|
|
NM_198253.3(TERT):c.453C>T (p.His151=)
|
|
|
NM_198253.3(TERT):c.454C>T (p.Leu152=)
|
|
|
NM_198253.3(TERT):c.457C>T (p.Leu153=)
|
|
|
NM_198253.3(TERT):c.459G>A (p.Leu153=)
|
rs749200840
|
|
NM_198253.3(TERT):c.460G>T (p.Ala154Ser)
|
|
|
NM_198253.3(TERT):c.462A>G (p.Ala154=)
|
rs558025297
|
|
NM_198253.3(TERT):c.465C>T (p.Arg155=)
|
rs2126689682
|
|
NM_198253.3(TERT):c.468C>T (p.Cys156=)
|
rs755843023
|
|
NM_198253.3(TERT):c.470C>T (p.Ala157Val)
|
rs2126689651
|
|
NM_198253.3(TERT):c.471G>T (p.Ala157=)
|
rs1751242622
|
|
NM_198253.3(TERT):c.472C>G (p.Leu158Val)
|
|
|
NM_198253.3(TERT):c.472C>T (p.Leu158Phe)
|
|
|
NM_198253.3(TERT):c.474C>T (p.Leu158=)
|
|
|
NM_198253.3(TERT):c.47G>A (p.Ser16Asn)
|
|
|
NM_198253.3(TERT):c.482T>C (p.Leu161Pro)
|
|
|
NM_198253.3(TERT):c.483G>C (p.Leu161=)
|
rs755155708
|
|
NM_198253.3(TERT):c.483G>T (p.Leu161=)
|
|
|
NM_198253.3(TERT):c.484G>A (p.Val162Met)
|
rs1751241289
|
|
NM_198253.3(TERT):c.489_493del (p.Pro164fs)
|
|
|
NM_198253.3(TERT):c.498C>T (p.Cys166=)
|
|
|
NM_198253.3(TERT):c.49C>T (p.His17Tyr)
|
|
|
NM_198253.3(TERT):c.4C>A (p.Pro2Thr)
|
rs1751303585
|
|
NM_198253.3(TERT):c.4C>G (p.Pro2Ala)
|
rs1751303585
|
|
NM_198253.3(TERT):c.501C>T (p.Ala167=)
|
rs2126689545
|
|
NM_198253.3(TERT):c.504C>T (p.Tyr168=)
|
rs2126689521
|
|
NM_198253.3(TERT):c.505C>T (p.Gln169Ter)
|
|
|
NM_198253.3(TERT):c.507G>A (p.Gln169=)
|
|
|
NM_198253.3(TERT):c.508_531del (p.Val170_Gln177del)
|
|
|
NM_198253.3(TERT):c.515G>A (p.Gly172Glu)
|
|
|
NM_198253.3(TERT):c.516G>A (p.Gly172=)
|
|
|
NM_198253.3(TERT):c.517C>T (p.Pro173Ser)
|
|
|
NM_198253.3(TERT):c.518C>G (p.Pro173Arg)
|
|
|
NM_198253.3(TERT):c.518C>T (p.Pro173Leu)
|
|
|
NM_198253.3(TERT):c.519G>C (p.Pro173=)
|
|
|
NM_198253.3(TERT):c.51C>G (p.His17Gln)
|
|
|
NM_198253.3(TERT):c.521_547dup (p.Pro174_Thr182dup)
|
rs1561214640
|
|
NM_198253.3(TERT):c.522G>A (p.Pro174=)
|
|
|
NM_198253.3(TERT):c.522G>C (p.Pro174=)
|
rs773784305
|
|
NM_198253.3(TERT):c.525G>A (p.Leu175=)
|
rs765709243
|
|
NM_198253.3(TERT):c.525G>C (p.Leu175=)
|
|
|
NM_198253.3(TERT):c.530A>G (p.Gln177Arg)
|
|
|
NM_198253.3(TERT):c.532C>G (p.Leu178Val)
|
rs2126689432
|
|
NM_198253.3(TERT):c.534C>G (p.Leu178=)
|
|
|
NM_198253.3(TERT):c.535G>A (p.Gly179Ser)
|
rs1751238098
|
|
NM_198253.3(TERT):c.536G>C (p.Gly179Ala)
|
rs771590775
|
|
NM_198253.3(TERT):c.537C>G (p.Gly179=)
|
rs1579598350
|
|
NM_198253.3(TERT):c.537C>T (p.Gly179=)
|
|
|
NM_198253.3(TERT):c.538G>A (p.Ala180Thr)
|
rs1751237418
|
|
NM_198253.3(TERT):c.540T>C (p.Ala180=)
|
rs2126689382
|
|
NM_198253.3(TERT):c.541G>T (p.Ala181Ser)
|
rs759137449
|
|
NM_198253.3(TERT):c.542C>T (p.Ala181Val)
|
|
|
NM_198253.3(TERT):c.543C>G (p.Ala181=)
|
|
|
NM_198253.3(TERT):c.543C>T (p.Ala181=)
|
|
|
NM_198253.3(TERT):c.544A>G (p.Thr182Ala)
|
rs878855305
|
|
NM_198253.3(TERT):c.544A>T (p.Thr182Ser)
|
rs878855305
|
|
NM_198253.3(TERT):c.545C>G (p.Thr182Ser)
|
rs1001681226
|
|
NM_198253.3(TERT):c.545C>T (p.Thr182Ile)
|
rs1001681226
|
|
NM_198253.3(TERT):c.547C>G (p.Gln183Glu)
|
rs945064716
|
|
NM_198253.3(TERT):c.548A>G (p.Gln183Arg)
|
rs1751235742
|
|
NM_198253.3(TERT):c.549G>A (p.Gln183=)
|
rs2126689298
|
|
NM_198253.3(TERT):c.54C>T (p.Tyr18=)
|
rs1060504792
|
|
NM_198253.3(TERT):c.554G>A (p.Arg185Gln)
|
rs749187042
|
|
NM_198253.3(TERT):c.555G>A (p.Arg185=)
|
|
|
NM_198253.3(TERT):c.556C>T (p.Pro186Ser)
|
rs2126689257
|
|
NM_198253.3(TERT):c.557C>T (p.Pro186Leu)
|
rs2126689250
|
|
NM_198253.3(TERT):c.558C>T (p.Pro186=)
|
rs2126689243
|
|
NM_198253.3(TERT):c.559C>A (p.Pro187Thr)
|
rs1751234467
|
|
NM_198253.3(TERT):c.560C>T (p.Pro187Leu)
|
rs906128293
|
|
NM_198253.3(TERT):c.561G>A (p.Pro187=)
|
rs1360926015
|
|
NM_198253.3(TERT):c.561G>C (p.Pro187=)
|
rs1360926015
|
|
NM_198253.3(TERT):c.561G>T (p.Pro187=)
|
rs1360926015
|
|
NM_198253.3(TERT):c.565C>G (p.His189Asp)
|
rs1561214604
|
|
NM_198253.3(TERT):c.566A>C (p.His189Pro)
|
rs769638625
|
|
NM_198253.3(TERT):c.567C>A (p.His189Gln)
|
rs747935528
|
|
NM_198253.3(TERT):c.568G>T (p.Ala190Ser)
|
|
|
NM_198253.3(TERT):c.569C>G (p.Ala190Gly)
|
|
|
NM_198253.3(TERT):c.572G>A (p.Ser191Asn)
|
rs11952056
|
|
NM_198253.3(TERT):c.577C>A (p.Pro193Thr)
|
rs1271112115
|
|
NM_198253.3(TERT):c.577C>T (p.Pro193Ser)
|
rs1271112115
|
|
NM_198253.3(TERT):c.578C>T (p.Pro193Leu)
|
rs751762765
|
|
NM_198253.3(TERT):c.579C>A (p.Pro193=)
|
rs2126689056
|
|
NM_198253.3(TERT):c.579C>T (p.Pro193=)
|
rs2126689056
|
|
NM_198253.3(TERT):c.57C>T (p.Arg19=)
|
|
|
NM_198253.3(TERT):c.57_58del (p.Glu20fs)
|
|
|
NM_198253.3(TERT):c.580C>G (p.Arg194Gly)
|
|
|
NM_198253.3(TERT):c.581G>A (p.Arg194Gln)
|
rs1579598204
|
|
NM_198253.3(TERT):c.583A>G (p.Arg195Gly)
|
|
|
NM_198253.3(TERT):c.584G>A (p.Arg195Lys)
|
|
|
NM_198253.3(TERT):c.584G>C (p.Arg195Thr)
|
|
|
NM_198253.3(TERT):c.587G>A (p.Arg196His)
|
|
|
NM_198253.3(TERT):c.589C>T (p.Leu197=)
|
|
|
NM_198253.3(TERT):c.58G>C (p.Glu20Gln)
|
rs2126692596
|
|
NM_198253.3(TERT):c.590T>G (p.Leu197Arg)
|
rs1751230105
|
|
NM_198253.3(TERT):c.591G>A (p.Leu197=)
|
|
|
NM_198253.3(TERT):c.592G>C (p.Gly198Arg)
|
rs758442518
|
|
NM_198253.3(TERT):c.593G>T (p.Gly198Val)
|
|
|
NM_198253.3(TERT):c.598G>A (p.Glu200Lys)
|
|
|
NM_198253.3(TERT):c.598G>T (p.Glu200Ter)
|
rs1322987070
|
|
NM_198253.3(TERT):c.599A>G (p.Glu200Gly)
|
rs2126688908
|
|
NM_198253.3(TERT):c.5C>G (p.Pro2Arg)
|
rs1751303315
|
|
NM_198253.3(TERT):c.5C>T (p.Pro2Leu)
|
rs1751303315
|
|
NM_198253.3(TERT):c.602G>A (p.Arg201Gln)
|
rs1060503003
|
|
NM_198253.3(TERT):c.602G>C (p.Arg201Pro)
|
|
|
NM_198253.3(TERT):c.603G>A (p.Arg201=)
|
rs538256221
|
|
NM_198253.3(TERT):c.606C>G (p.Ala202=)
|
rs1060504785
|
|
NM_198253.3(TERT):c.606C>T (p.Ala202=)
|
rs1060504785
|
|
NM_198253.3(TERT):c.607T>A (p.Trp203Arg)
|
|
|
NM_198253.3(TERT):c.607T>G (p.Trp203Gly)
|
|
|
NM_198253.3(TERT):c.608G>C (p.Trp203Ser)
|
rs1751227721
|
|
NM_198253.3(TERT):c.609G>C (p.Trp203Cys)
|
rs1561214494
|
|
NM_198253.3(TERT):c.60G>A (p.Glu20=)
|
rs1751299200
|
|
NM_198253.3(TERT):c.612C>A (p.Asn204Lys)
|
rs2126688826
|
|
NM_198253.3(TERT):c.613dup (p.His205fs)
|
rs1751227147
|
|
NM_198253.3(TERT):c.614A>C (p.His205Pro)
|
|
|
NM_198253.3(TERT):c.618C>A (p.Ser206Arg)
|
rs759142412
|
|
NM_198253.3(TERT):c.624G>T (p.Arg208Ser)
|
rs773987859
|
|
NM_198253.3(TERT):c.625G>A (p.Glu209Lys)
|
|
|
NM_198253.3(TERT):c.627G>T (p.Glu209Asp)
|
|
|
NM_198253.3(TERT):c.628G>A (p.Ala210Thr)
|
rs1751225599
|
|
NM_198253.3(TERT):c.630C>A (p.Ala210=)
|
|
|
NM_198253.3(TERT):c.633G>A (p.Gly211=)
|
|
|
NM_198253.3(TERT):c.634G>A (p.Val212Ile)
|
rs1751224811
|
|
NM_198253.3(TERT):c.634G>C (p.Val212Leu)
|
|
|
NM_198253.3(TERT):c.635T>C (p.Val212Ala)
|
|
|
NM_198253.3(TERT):c.637C>T (p.Pro213Ser)
|
rs2126688704
|
|
NM_198253.3(TERT):c.638C>T (p.Pro213Leu)
|
rs773202955
|
|
NM_198253.3(TERT):c.639C>T (p.Pro213=)
|
rs769691692
|
|
NM_198253.3(TERT):c.643G>A (p.Gly215Ser)
|
|
|
NM_198253.3(TERT):c.643G>C (p.Gly215Arg)
|
|
|
NM_198253.3(TERT):c.646C>A (p.Leu216Met)
|
|
|
NM_198253.3(TERT):c.648G>T (p.Leu216=)
|
|
|
NM_198253.3(TERT):c.648_649delinsAA (p.Pro217Thr)
|
rs1554043029
|
|
NM_198253.3(TERT):c.650C>T (p.Pro217Leu)
|
|
|
NM_198253.3(TERT):c.652G>A (p.Ala218Thr)
|
rs1554043028
|
|
NM_198253.3(TERT):c.653C>A (p.Ala218Asp)
|
rs1751222229
|
|
NM_198253.3(TERT):c.653C>G (p.Ala218Gly)
|
rs1751222229
|
|
NM_198253.3(TERT):c.653C>T (p.Ala218Val)
|
|
|
NM_198253.3(TERT):c.657G>A (p.Pro219=)
|
|
|
NM_198253.3(TERT):c.657G>C (p.Pro219=)
|
|
|
NM_198253.3(TERT):c.661G>A (p.Ala221Thr)
|
rs2126688553
|
|
NM_198253.3(TERT):c.662C>T (p.Ala221Val)
|
rs1751221457
|
|
NM_198253.3(TERT):c.663G>A (p.Ala221=)
|
rs35837567
|
|
NM_198253.3(TERT):c.663G>T (p.Ala221=)
|
rs35837567
|
|
NM_198253.3(TERT):c.664A>T (p.Arg222Trp)
|
rs1751220903
|
|
NM_198253.3(TERT):c.665G>A (p.Arg222Lys)
|
rs1751220663
|
|
NM_198253.3(TERT):c.665G>C (p.Arg222Thr)
|
rs1751220663
|
|
NM_198253.3(TERT):c.666G>A (p.Arg222=)
|
|
|
NM_198253.3(TERT):c.669G>A (p.Arg223=)
|
rs1060504791
|
|
NM_198253.3(TERT):c.66G>A (p.Leu22=)
|
rs2126692522
|
|
NM_198253.3(TERT):c.670C>G (p.Arg224Gly)
|
rs750497661
|
|
NM_198253.3(TERT):c.671G>A (p.Arg224His)
|
rs1388678536
|
|
NM_198253.3(TERT):c.671_672delinsAA (p.Arg224Gln)
|
rs2126688443
|
|
NM_198253.3(TERT):c.672C>G (p.Arg224=)
|
rs996032219
|
|
NM_198253.3(TERT):c.673G>A (p.Gly225Arg)
|
rs1060502999
|
|
NM_198253.3(TERT):c.673G>C (p.Gly225Arg)
|
rs1060502999
|
|
NM_198253.3(TERT):c.675G>A (p.Gly225=)
|
|
|
NM_198253.3(TERT):c.676G>T (p.Gly226Cys)
|
rs1751218496
|
|
NM_198253.3(TERT):c.677G>T (p.Gly226Val)
|
rs1325261470
|
|
NM_198253.3(TERT):c.678C>T (p.Gly226=)
|
|
|
NM_198253.3(TERT):c.67C>T (p.Pro23Ser)
|
|
|
NM_198253.3(TERT):c.682G>A (p.Ala228Thr)
|
rs2126688374
|
|
NM_198253.3(TERT):c.683C>T (p.Ala228Val)
|
|
|
NM_198253.3(TERT):c.685A>C (p.Ser229Arg)
|
rs1212760122
|
|
NM_198253.3(TERT):c.686G>A (p.Ser229Asn)
|
rs1751217170
|
|
NM_198253.3(TERT):c.686G>T (p.Ser229Ile)
|
|
|
NM_198253.3(TERT):c.687C>T (p.Ser229=)
|
rs1554043016
|
|
NM_198253.3(TERT):c.688C>A (p.Arg230=)
|
rs989271195
|
|
NM_198253.3(TERT):c.688C>T (p.Arg230Ter)
|
rs989271195
|
|
NM_198253.3(TERT):c.689G>T (p.Arg230Leu)
|
rs957794083
|
|
NM_198253.3(TERT):c.692G>A (p.Ser231Asn)
|
|
|
NM_198253.3(TERT):c.693T>C (p.Ser231=)
|
|
|
NM_198253.3(TERT):c.694C>T (p.Leu232=)
|
|
|
NM_198253.3(TERT):c.695T>G (p.Leu232Arg)
|
|
|
NM_198253.3(TERT):c.696G>A (p.Leu232=)
|
rs1033402019
|
|
NM_198253.3(TERT):c.696G>T (p.Leu232=)
|
rs1033402019
|
|
NM_198253.3(TERT):c.699G>T (p.Pro233=)
|
rs757862712
|
|
NM_198253.3(TERT):c.69G>T (p.Pro23=)
|
|
|
NM_198253.3(TERT):c.702G>A (p.Leu234=)
|
rs754359147
|
|
NM_198253.3(TERT):c.705C>G (p.Pro235=)
|
|
|
NM_198253.3(TERT):c.706A>G (p.Lys236Glu)
|
rs2126688239
|
|
NM_198253.3(TERT):c.708G>A (p.Lys236=)
|
rs1250720718
|
|
NM_198253.3(TERT):c.710G>A (p.Arg237Lys)
|
rs1751214368
|
|
NM_198253.3(TERT):c.712C>T (p.Pro238Ser)
|
rs149427814
|
|
NM_198253.3(TERT):c.713C>T (p.Pro238Leu)
|
|
|
NM_198253.3(TERT):c.714C>T (p.Pro238=)
|
|
|
NM_198253.3(TERT):c.718C>T (p.Arg240Cys)
|
rs1252662816
|
|
NM_198253.3(TERT):c.719G>T (p.Arg240Leu)
|
rs751231538
|
|
NM_198253.3(TERT):c.723C>G (p.Gly241=)
|
|
|
NM_198253.3(TERT):c.723C>T (p.Gly241=)
|
rs1751212637
|
|
NM_198253.3(TERT):c.724G>A (p.Ala242Thr)
|
rs766054124
|
|
NM_198253.3(TERT):c.724G>T (p.Ala242Ser)
|
|
|
NM_198253.3(TERT):c.727G>A (p.Ala243Thr)
|
|
|
NM_198253.3(TERT):c.735G>C (p.Glu245Asp)
|
|
|
NM_198253.3(TERT):c.735G>T (p.Glu245Asp)
|
|
|
NM_198253.3(TERT):c.735_745del (p.Glu245fs)
|
|
|
NM_198253.3(TERT):c.738G>A (p.Pro246=)
|
|
|
NM_198253.3(TERT):c.738G>T (p.Pro246=)
|
rs111527543
|
|
NM_198253.3(TERT):c.739G>C (p.Glu247Gln)
|
rs1403395035
|
|
NM_198253.3(TERT):c.742C>T (p.Arg248Trp)
|
|
|
NM_198253.3(TERT):c.743G>A (p.Arg248Gln)
|
rs1751210062
|
|
NM_198253.3(TERT):c.743G>C (p.Arg248Pro)
|
rs1751210062
|
|
NM_198253.3(TERT):c.750C>G (p.Pro250=)
|
rs761741087
|
|
NM_198253.3(TERT):c.750C>T (p.Pro250=)
|
rs761741087
|
|
NM_198253.3(TERT):c.751G>C (p.Val251Leu)
|
rs776569822
|
|
NM_198253.3(TERT):c.754G>A (p.Gly252Arg)
|
rs1751208674
|
|
NM_198253.3(TERT):c.755G>A (p.Gly252Glu)
|
|
|
NM_198253.3(TERT):c.757C>T (p.Gln253Ter)
|
|
|
NM_198253.3(TERT):c.759G>C (p.Gln253His)
|
rs1579597808
|
|
NM_198253.3(TERT):c.75C>A (p.Ala25=)
|
rs2126692441
|
|
NM_198253.3(TERT):c.760G>T (p.Gly254Trp)
|
|
|
NM_198253.3(TERT):c.761G>A (p.Gly254Glu)
|
|
|
NM_198253.3(TERT):c.761G>C (p.Gly254Ala)
|
rs1364961973
|
|
NM_198253.3(TERT):c.763T>A (p.Ser255Thr)
|
|
|
NM_198253.3(TERT):c.763T>G (p.Ser255Ala)
|
|
|
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr)
|
rs1751207450
|
|
NM_198253.3(TERT):c.767G>A (p.Trp256Ter)
|
rs2126687935
|
|
NM_198253.3(TERT):c.767G>T (p.Trp256Leu)
|
|
|
NM_198253.3(TERT):c.772C>T (p.His258Tyr)
|
rs1751206811
|
|
NM_198253.3(TERT):c.774C>A (p.His258Gln)
|
rs1380946920
|
|
NM_198253.3(TERT):c.774C>G (p.His258Gln)
|
|
|
NM_198253.3(TERT):c.774C>T (p.His258=)
|
|
|
NM_198253.3(TERT):c.776C>A (p.Pro259Gln)
|
|
|
NM_198253.3(TERT):c.777G>A (p.Pro259=)
|
rs746036694
|
|
NM_198253.3(TERT):c.77C>A (p.Thr26Lys)
|
rs760727529
|
|
NM_198253.3(TERT):c.780C>A (p.Gly260=)
|
rs2126687848
|
|
NM_198253.3(TERT):c.781A>T (p.Arg261Trp)
|
rs1554042983
|
|
NM_198253.3(TERT):c.782G>A (p.Arg261Lys)
|
rs1554042981
|
|
NM_198253.3(TERT):c.783G>A (p.Arg261=)
|
rs1286573582
|
|
NM_198253.3(TERT):c.783G>C (p.Arg261Ser)
|
rs1286573582
|
|
NM_198253.3(TERT):c.785C>T (p.Thr262Met)
|
rs150277224
|
|
NM_198253.3(TERT):c.786_787delinsAA (p.Arg263Ser)
|
|
|
NM_198253.3(TERT):c.787C>T (p.Arg263Cys)
|
|
|
NM_198253.3(TERT):c.788G>A (p.Arg263His)
|
rs1751204143
|
|
NM_198253.3(TERT):c.78G>C (p.Thr26=)
|
|
|
NM_198253.3(TERT):c.792A>G (p.Gly264=)
|
|
|
NM_198253.3(TERT):c.794C>G (p.Pro265Arg)
|
rs890272771
|
|
NM_198253.3(TERT):c.794C>T (p.Pro265Leu)
|
rs890272771
|
|
NM_198253.3(TERT):c.795G>T (p.Pro265=)
|
|
|
NM_198253.3(TERT):c.799G>A (p.Asp267Asn)
|
rs2126687735
|
|
NM_198253.3(TERT):c.801C>T (p.Asp267=)
|
rs2126687721
|
|
NM_198253.3(TERT):c.803G>A (p.Arg268His)
|
rs374426285
|
|
NM_198253.3(TERT):c.809dup (p.Cys271fs)
|
|
|
NM_198253.3(TERT):c.811T>C (p.Cys271Arg)
|
rs1483728464
|
|
NM_198253.3(TERT):c.811T>G (p.Cys271Gly)
|
|
|
NM_198253.3(TERT):c.812G>A (p.Cys271Tyr)
|
|
|
NM_198253.3(TERT):c.812G>C (p.Cys271Ser)
|
rs1751201697
|
|
NM_198253.3(TERT):c.815T>C (p.Val272Ala)
|
|
|
NM_198253.3(TERT):c.815T>G (p.Val272Gly)
|
|
|
NM_198253.3(TERT):c.817G>A (p.Val273Met)
|
|
|
NM_198253.3(TERT):c.817G>C (p.Val273Leu)
|
|
|
NM_198253.3(TERT):c.81C>T (p.Phe27=)
|
rs1377361296
|
|
NM_198253.3(TERT):c.820T>A (p.Ser274Thr)
|
rs1751200603
|
|
NM_198253.3(TERT):c.823C>T (p.Pro275Ser)
|
|
|
NM_198253.3(TERT):c.824C>T (p.Pro275Leu)
|
rs1751200027
|
|
NM_198253.3(TERT):c.827C>A (p.Ala276Asp)
|
|
|
NM_198253.3(TERT):c.829A>C (p.Arg277=)
|
|
|
NM_198253.3(TERT):c.82G>C (p.Val28Leu)
|
rs1060503000
|
|
NM_198253.3(TERT):c.830G>T (p.Arg277Ile)
|
|
|
NM_198253.3(TERT):c.832C>T (p.Pro278Ser)
|
rs2126687588
|
|
NM_198253.3(TERT):c.834C>G (p.Pro278=)
|
rs375423906
|
|
NM_198253.3(TERT):c.834C>T (p.Pro278=)
|
|
|
NM_198253.3(TERT):c.836C>T (p.Ala279Val)
|
|
|
NM_198253.3(TERT):c.83T>G (p.Val28Gly)
|
rs1561215157
|
|
NM_198253.3(TERT):c.840A>G (p.Glu280=)
|
|
|
NM_198253.3(TERT):c.847A>C (p.Thr283Pro)
|
rs1295657479
|
|
NM_198253.3(TERT):c.848C>T (p.Thr283Ile)
|
rs1231931601
|
|
NM_198253.3(TERT):c.849C>T (p.Thr283=)
|
|
|
NM_198253.3(TERT):c.850T>C (p.Ser284Pro)
|
|
|
NM_198253.3(TERT):c.851C>T (p.Ser284Phe)
|
rs1279190294
|
|
NM_198253.3(TERT):c.853T>G (p.Leu285Val)
|
|
|
NM_198253.3(TERT):c.856G>A (p.Glu286Lys)
|
rs1346650601
|
|
NM_198253.3(TERT):c.857A>C (p.Glu286Ala)
|
rs2126687381
|
|
NM_198253.3(TERT):c.85C>A (p.Arg29=)
|
rs1024973528
|
|
NM_198253.3(TERT):c.861T>A (p.Gly287=)
|
rs1579597505
|
|
NM_198253.3(TERT):c.863C>G (p.Ala288Gly)
|
rs774657340
|
|
NM_198253.3(TERT):c.864G>A (p.Ala288=)
|
rs2126687319
|
|
NM_198253.3(TERT):c.864G>T (p.Ala288=)
|
rs2126687319
|
|
NM_198253.3(TERT):c.865C>T (p.Leu289Phe)
|
rs1167028240
|
|
NM_198253.3(TERT):c.866T>C (p.Leu289Pro)
|
rs1751193985
|
|
NM_198253.3(TERT):c.867C>G (p.Leu289=)
|
rs771194908
|
|
NM_198253.3(TERT):c.873C>T (p.Gly291=)
|
rs1554042931
|
|
NM_198253.3(TERT):c.874A>C (p.Thr292Pro)
|
|
|
NM_198253.3(TERT):c.875C>G (p.Thr292Arg)
|
rs1751193051
|
|
NM_198253.3(TERT):c.875C>T (p.Thr292Met)
|
rs1751193051
|
|
NM_198253.3(TERT):c.876G>A (p.Thr292=)
|
rs1194175606
|
|
NM_198253.3(TERT):c.877C>T (p.Arg293Cys)
|
|
|
NM_198253.3(TERT):c.878G>A (p.Arg293His)
|
|
|
NM_198253.3(TERT):c.878G>T (p.Arg293Leu)
|
rs1309920442
|
|
NM_198253.3(TERT):c.884C>G (p.Ser295Cys)
|
|
|
NM_198253.3(TERT):c.889C>A (p.Pro297Thr)
|
rs1751190674
|
|
NM_198253.3(TERT):c.889C>T (p.Pro297Ser)
|
rs1751190674
|
|
NM_198253.3(TERT):c.890C>T (p.Pro297Leu)
|
rs1212399654
|
|
NM_198253.3(TERT):c.891A>G (p.Pro297=)
|
rs2126687153
|
|
NM_198253.3(TERT):c.892T>C (p.Ser298Pro)
|
|
|
NM_198253.3(TERT):c.892_893delinsAA (p.Ser298Asn)
|
rs1579597416
|
|
NM_198253.3(TERT):c.893C>G (p.Ser298Cys)
|
rs918075673
|
|
NM_198253.3(TERT):c.894C>T (p.Ser298=)
|
rs1312841090
|
|
NM_198253.3(TERT):c.895G>T (p.Val299Leu)
|
rs756624928
|
|
NM_198253.3(TERT):c.897G>T (p.Val299=)
|
rs1554042926
|
|
NM_198253.3(TERT):c.899G>A (p.Gly300Asp)
|
|
|
NM_198253.3(TERT):c.89_98del (p.Arg30fs)
|
|
|
NM_198253.3(TERT):c.8G>C (p.Arg3Pro)
|
rs2126693146
|
|
NM_198253.3(TERT):c.901C>A (p.Arg301Ser)
|
|
|
NM_198253.3(TERT):c.902G>A (p.Arg301His)
|
rs1268051204
|
|
NM_198253.3(TERT):c.902G>T (p.Arg301Leu)
|
rs1268051204
|
|
NM_198253.3(TERT):c.905A>C (p.Gln302Pro)
|
|
|
NM_198253.3(TERT):c.905A>G (p.Gln302Arg)
|
rs1751188438
|
|
NM_198253.3(TERT):c.906G>C (p.Gln302His)
|
|
|
NM_198253.3(TERT):c.908A>T (p.His303Leu)
|
rs1751187792
|
|
NM_198253.3(TERT):c.90C>G (p.Arg30=)
|
rs776045913
|
|
NM_198253.3(TERT):c.90C>T (p.Arg30=)
|
rs776045913
|
|
NM_198253.3(TERT):c.912C>T (p.His304=)
|
rs2126686991
|
|
NM_198253.3(TERT):c.913G>A (p.Ala305Thr)
|
rs755275006
|
|
NM_198253.3(TERT):c.913_914delinsTT (p.Ala305Leu)
|
rs2126686969
|
|
NM_198253.3(TERT):c.913_915delinsTTA (p.Ala305Leu)
|
|
|
NM_198253.3(TERT):c.917G>A (p.Gly306Asp)
|
rs1554042920
|
|
NM_198253.3(TERT):c.918C>G (p.Gly306=)
|
|
|
NM_198253.3(TERT):c.918C>T (p.Gly306=)
|
rs919921930
|
|
NM_198253.3(TERT):c.920C>G (p.Pro307Arg)
|
rs1751184986
|
|
NM_198253.3(TERT):c.920C>T (p.Pro307Leu)
|
|
|
NM_198253.3(TERT):c.921C>G (p.Pro307=)
|
|
|
NM_198253.3(TERT):c.921C>T (p.Pro307=)
|
rs1352359181
|
|
NM_198253.3(TERT):c.923C>T (p.Pro308Leu)
|
rs763462006
|
|
NM_198253.3(TERT):c.923del (p.Pro308fs)
|
|
|
NM_198253.3(TERT):c.923dup (p.Ser309fs)
|
rs1191885727
|
|
NM_198253.3(TERT):c.924A>G (p.Pro308=)
|
|
|
NM_198253.3(TERT):c.929C>T (p.Thr310Ile)
|
|
|
NM_198253.3(TERT):c.930A>G (p.Thr310=)
|
|
|
NM_198253.3(TERT):c.930A>T (p.Thr310=)
|
rs1466834683
|
|
NM_198253.3(TERT):c.931T>A (p.Ser311Thr)
|
rs1060502998
|
|
NM_198253.3(TERT):c.932C>T (p.Ser311Leu)
|
rs974018889
|
|
NM_198253.3(TERT):c.933G>A (p.Ser311=)
|
rs2126686810
|
|
NM_198253.3(TERT):c.934C>G (p.Arg312Gly)
|
|
|
NM_198253.3(TERT):c.935G>A (p.Arg312Gln)
|
rs752511903
|
|
NM_198253.3(TERT):c.935G>C (p.Arg312Pro)
|
rs752511903
|
|
NM_198253.3(TERT):c.936G>A (p.Arg312=)
|
rs1207164857
|
|
NM_198253.3(TERT):c.937C>T (p.Pro313Ser)
|
rs2126686771
|
|
NM_198253.3(TERT):c.938C>A (p.Pro313Gln)
|
|
|
NM_198253.3(TERT):c.939A>G (p.Pro313=)
|
rs1554042914
|
|
NM_198253.3(TERT):c.940C>T (p.Pro314Ser)
|
|
|
NM_198253.3(TERT):c.941C>T (p.Pro314Leu)
|
rs1306142415
|
|
NM_198253.3(TERT):c.942A>G (p.Pro314=)
|
rs1060504784
|
|
NM_198253.3(TERT):c.943C>A (p.Arg315Ser)
|
rs1554042911
|
|
NM_198253.3(TERT):c.943C>T (p.Arg315Cys)
|
rs1554042911
|
|
NM_198253.3(TERT):c.945T>A (p.Arg315=)
|
|
|
NM_198253.3(TERT):c.948C>A (p.Pro316=)
|
|
|
NM_198253.3(TERT):c.949T>A (p.Trp317Arg)
|
|
|
NM_198253.3(TERT):c.949T>C (p.Trp317Arg)
|
|
|
NM_198253.3(TERT):c.950G>A (p.Trp317Ter)
|
|
|
NM_198253.3(TERT):c.952G>T (p.Asp318Tyr)
|
|
|
NM_198253.3(TERT):c.953A>G (p.Asp318Gly)
|
rs2126686688
|
|
NM_198253.3(TERT):c.954C>G (p.Asp318Glu)
|
rs964108245
|
|
NM_198253.3(TERT):c.956C>A (p.Thr319Lys)
|
|
|
NM_198253.3(TERT):c.957G>C (p.Thr319=)
|
rs1018341020
|
|
NM_198253.3(TERT):c.958C>T (p.Pro320Ser)
|
|
|
NM_198253.3(TERT):c.959C>G (p.Pro320Arg)
|
rs1751178484
|
|
NM_198253.3(TERT):c.959C>T (p.Pro320Leu)
|
rs1751178484
|
|
NM_198253.3(TERT):c.964C>A (p.Pro322Thr)
|
|
|
NM_198253.3(TERT):c.964C>G (p.Pro322Ala)
|
rs1751177770
|
|
NM_198253.3(TERT):c.964C>T (p.Pro322Ser)
|
|
|
NM_198253.3(TERT):c.965C>G (p.Pro322Arg)
|
rs1438162956
|
|
NM_198253.3(TERT):c.966C>G (p.Pro322=)
|
rs1214021171
|
|
NM_198253.3(TERT):c.968C>T (p.Pro323Leu)
|
rs139342764
|
|
NM_198253.3(TERT):c.969G>C (p.Pro323=)
|
rs148549782
|
|
NM_198253.3(TERT):c.970del (p.Val324fs)
|
|
|
NM_198253.3(TERT):c.973T>C (p.Tyr325His)
|
|
|
NM_198253.3(TERT):c.973T>G (p.Tyr325Asp)
|
rs1579597164
|
|
NM_198253.3(TERT):c.974A>C (p.Tyr325Ser)
|
|
|
NM_198253.3(TERT):c.976G>T (p.Ala326Ser)
|
|
|
NM_198253.3(TERT):c.978C>A (p.Ala326=)
|
|
|
NM_198253.3(TERT):c.97C>T (p.Pro33Ser)
|
rs199422289
|
|
NM_198253.3(TERT):c.981G>T (p.Glu327Asp)
|
rs1751174775
|
|
NM_198253.3(TERT):c.984C>G (p.Thr328=)
|
rs762993766
|
|
NM_198253.3(TERT):c.987G>C (p.Lys329Asn)
|
rs892343950
|
|
NM_198253.3(TERT):c.98C>T (p.Pro33Leu)
|
rs2126692176
|
|
NM_198253.3(TERT):c.990C>A (p.His330Gln)
|
rs2126686464
|
|
NM_198253.3(TERT):c.993C>T (p.Phe331=)
|
rs2126686456
|
|
NM_198253.3(TERT):c.996C>G (p.Leu332=)
|
|
|
NM_198253.3(TERT):c.996del (p.Tyr333fs)
|
rs2126686445
|
|
NM_198253.3(TERT):c.999CTC[1] (p.Ser335del)
|
rs1170942980
|
|
NM_198253.3(TERT):c.9C>T (p.Arg3=)
|
rs1329121371
|
|
NR_001566.3(TERC):n.98G>A
|
rs199422268
|
|
Single allele
|
|
|