NM_032043.3(BRIP1):c.2637A>G (p.Glu879=)
|
rs4986765
|
0.74166
|
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro)
|
rs4986764
|
0.61453
|
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=)
|
rs4986763
|
0.60694
|
NM_032043.3(BRIP1):c.508-31C>G
|
rs4988344
|
0.15259
|
NM_032043.3(BRIP1):c.94-18T>G
|
rs2138005
|
0.03086
|
NM_032043.3(BRIP1):c.206-21T>C
|
rs2048717
|
0.00589
|
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val)
|
rs111536363
|
0.00480
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
NM_032043.3(BRIP1):c.*128A>G
|
rs150444311
|
0.00277
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=)
|
rs75091137
|
0.00194
|
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=)
|
rs61754141
|
0.00173
|
NM_032043.3(BRIP1):c.2061G>C (p.Val687=)
|
rs112414873
|
0.00153
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
NM_032043.3(BRIP1):c.918+15T>A
|
rs117820198
|
0.00078
|
NM_032043.3(BRIP1):c.195A>G (p.Gln65=)
|
rs141436143
|
0.00076
|
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
|
rs145855459
|
0.00076
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
|
rs116952709
|
0.00055
|
NM_032043.3(BRIP1):c.317G>A (p.Arg106His)
|
rs143615668
|
0.00048
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
NM_032043.3(BRIP1):c.173G>A (p.Cys58Tyr)
|
rs749920386
|
0.00029
|
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)
|
rs367610893
|
0.00027
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_032043.3(BRIP1):c.852C>T (p.Val284=)
|
rs144940449
|
0.00021
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
0.00019
|
NM_032043.3(BRIP1):c.380-5A>G
|
rs587782131
|
0.00019
|
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)
|
rs150313156
|
0.00019
|
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=)
|
rs145796331
|
0.00017
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
NM_032043.3(BRIP1):c.-30-3T>C
|
rs370728413
|
0.00014
|
NM_032043.3(BRIP1):c.595C>T (p.Leu199=)
|
rs144969738
|
0.00014
|
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)
|
rs202228407
|
0.00013
|
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His)
|
rs200894063
|
0.00012
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_032043.3(BRIP1):c.1721C>T (p.Pro574Leu)
|
rs377302300
|
0.00009
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
NM_032043.3(BRIP1):c.1629-11T>C
|
rs375710640
|
0.00007
|
NM_032043.3(BRIP1):c.2873T>A (p.Leu958Gln)
|
rs145859791
|
0.00007
|
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=)
|
rs369843642
|
0.00007
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu)
|
rs147755155
|
0.00006
|
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=)
|
rs374362388
|
0.00006
|
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)
|
rs587780235
|
0.00006
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
0.00006
|
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)
|
rs730881645
|
0.00006
|
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser)
|
rs587780251
|
0.00006
|
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)
|
rs201047375
|
0.00006
|
NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr)
|
rs754242563
|
0.00006
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
NM_032043.3(BRIP1):c.918+1G>A
|
rs587781655
|
0.00006
|
NM_032043.3(BRIP1):c.1688A>G (p.Asp563Gly)
|
rs577768294
|
0.00005
|
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met)
|
rs587781666
|
0.00005
|
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)
|
rs764848326
|
0.00005
|
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
NM_032043.3(BRIP1):c.1090A>T (p.Ile364Phe)
|
rs770306753
|
0.00004
|
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp)
|
rs369631413
|
0.00004
|
NM_032043.3(BRIP1):c.1220G>A (p.Ser407Asn)
|
rs759835916
|
0.00004
|
NM_032043.3(BRIP1):c.1655T>C (p.Ile552Thr)
|
rs369340666
|
0.00004
|
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile)
|
rs777741543
|
0.00004
|
NM_032043.3(BRIP1):c.2189G>A (p.Gly730Glu)
|
rs748616469
|
0.00004
|
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys)
|
rs146031731
|
0.00004
|
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp)
|
rs578022079
|
0.00004
|
NM_032043.3(BRIP1):c.297C>T (p.Asp99=)
|
rs201617644
|
0.00004
|
NM_032043.3(BRIP1):c.3051G>A (p.Pro1017=)
|
rs776990704
|
0.00004
|
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His)
|
rs367816363
|
0.00004
|
NM_032043.3(BRIP1):c.3224C>T (p.Ser1075Leu)
|
rs183928474
|
0.00004
|
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala)
|
rs372799558
|
0.00004
|
NM_032043.3(BRIP1):c.400C>A (p.Leu134Met)
|
rs876658195
|
0.00004
|
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala)
|
rs202072866
|
0.00004
|
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe)
|
rs533184563
|
0.00004
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
NM_032043.3(BRIP1):c.1171A>G (p.Ile391Val)
|
rs863224798
|
0.00003
|
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)
|
rs587780228
|
0.00003
|
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val)
|
rs142744352
|
0.00003
|
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)
|
rs4988349
|
0.00003
|
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu)
|
rs375246789
|
0.00003
|
NM_032043.3(BRIP1):c.1660C>G (p.Gln554Glu)
|
rs777217004
|
0.00003
|
NM_032043.3(BRIP1):c.1972C>T (p.Arg658Trp)
|
rs786203170
|
0.00003
|
NM_032043.3(BRIP1):c.2100A>G (p.Leu700=)
|
rs766047812
|
0.00003
|
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)
|
rs200960251
|
0.00003
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser)
|
rs587780239
|
0.00003
|
NM_032043.3(BRIP1):c.2492+2dup
|
rs587780240
|
0.00003
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
NM_032043.3(BRIP1):c.2567A>G (p.Tyr856Cys)
|
rs781556845
|
0.00003
|
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr)
|
rs757668121
|
0.00003
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)
|
rs200239986
|
0.00003
|
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=)
|
rs188258913
|
0.00003
|
NM_032043.3(BRIP1):c.312T>G (p.Thr104=)
|
rs769190318
|
0.00003
|
NM_032043.3(BRIP1):c.347C>G (p.Ser116Cys)
|
rs748793974
|
0.00003
|
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)
|
rs761405340
|
0.00003
|
NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter)
|
rs542698396
|
0.00003
|
NM_032043.3(BRIP1):c.3730_3731del (p.Met1244fs)
|
rs730881646
|
0.00003
|
NM_032043.3(BRIP1):c.702G>A (p.Lys234=)
|
rs45512798
|
0.00003
|
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)
|
rs587781860
|
0.00003
|
NM_032043.3(BRIP1):c.886G>C (p.Glu296Gln)
|
rs876660125
|
0.00003
|
NM_032043.3(BRIP1):c.-95G>A
|
rs892920553
|
0.00002
|
NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp)
|
rs587780225
|
0.00002
|
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter)
|
rs775171520
|
0.00002
|
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg)
|
rs45501097
|
0.00002
|
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)
|
rs780020495
|
0.00002
|
NM_032043.3(BRIP1):c.1759C>G (p.His587Asp)
|
rs876660519
|
0.00002
|
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met)
|
rs28997572
|
0.00002
|
NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter)
|
rs876659533
|
0.00002
|
NM_032043.3(BRIP1):c.2606A>G (p.Gln869Arg)
|
rs1060501733
|
0.00002
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00002
|
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn)
|
rs587781923
|
0.00002
|
NM_032043.3(BRIP1):c.332C>A (p.Pro111Gln)
|
rs201790351
|
0.00002
|
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln)
|
rs587780248
|
0.00002
|
NM_032043.3(BRIP1):c.3349T>G (p.Ser1117Ala)
|
rs779860140
|
0.00002
|
NM_032043.3(BRIP1):c.386C>T (p.Pro129Leu)
|
rs587780831
|
0.00002
|
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser)
|
rs730881623
|
0.00002
|
NM_032043.3(BRIP1):c.518G>A (p.Arg173His)
|
rs761432927
|
0.00002
|
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu)
|
rs565458815
|
0.00002
|
NM_032043.3(BRIP1):c.633del (p.Gly212fs)
|
rs779466229
|
0.00002
|
NM_032043.3(BRIP1):c.638A>G (p.His213Arg)
|
rs376760085
|
0.00002
|
NM_032043.3(BRIP1):c.661A>G (p.Thr221Ala)
|
rs777618772
|
0.00002
|
NM_032043.3(BRIP1):c.713C>T (p.Thr238Ile)
|
rs745955726
|
0.00002
|
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val)
|
rs376893571
|
0.00002
|
NM_032043.3(BRIP1):c.791G>A (p.Arg264Gln)
|
rs758360637
|
0.00002
|
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met)
|
rs550031006
|
0.00002
|
NM_032043.2(BRIP1):c.2097+8A>C
|
rs730881642
|
0.00001
|
NM_032043.3(BRIP1):c.-225G>A
|
rs1603369188
|
0.00001
|
NM_032043.3(BRIP1):c.-56C>G
|
rs1054876315
|
0.00001
|
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)
|
rs755796609
|
0.00001
|
NM_032043.3(BRIP1):c.1054T>C (p.Tyr352His)
|
rs730881632
|
0.00001
|
NM_032043.3(BRIP1):c.1057T>C (p.Tyr353His)
|
rs1567831780
|
0.00001
|
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)
|
rs730881633
|
0.00001
|
NM_032043.3(BRIP1):c.1105T>C (p.Tyr369His)
|
rs587781325
|
0.00001
|
NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser)
|
rs777511615
|
0.00001
|
NM_032043.3(BRIP1):c.1114C>T (p.Leu372Phe)
|
rs786202637
|
0.00001
|
NM_032043.3(BRIP1):c.1187A>G (p.His396Arg)
|
rs996493095
|
0.00001
|
NM_032043.3(BRIP1):c.1188dup (p.Asn397Ter)
|
rs1603342313
|
0.00001
|
NM_032043.3(BRIP1):c.1195G>A (p.Glu399Lys)
|
rs587782816
|
0.00001
|
NM_032043.3(BRIP1):c.1198G>T (p.Asp400Tyr)
|
rs764711572
|
0.00001
|
NM_032043.3(BRIP1):c.1216G>T (p.Ala406Ser)
|
rs1060501747
|
0.00001
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
NM_032043.3(BRIP1):c.1268A>G (p.Asp423Gly)
|
rs746778889
|
0.00001
|
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)
|
rs587780226
|
0.00001
|
NM_032043.3(BRIP1):c.1321G>A (p.Val441Met)
|
rs1060501782
|
0.00001
|
NM_032043.3(BRIP1):c.1363T>A (p.Tyr455Asn)
|
rs587780826
|
0.00001
|
NM_032043.3(BRIP1):c.1375A>G (p.Arg459Gly)
|
rs752052351
|
0.00001
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=)
|
rs773489367
|
0.00001
|
NM_032043.3(BRIP1):c.1467T>G (p.Ile489Met)
|
rs587780230
|
0.00001
|
NM_032043.3(BRIP1):c.1473+6A>G
|
rs587780827
|
0.00001
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
NM_032043.3(BRIP1):c.1586G>A (p.Gly529Glu)
|
rs138784299
|
0.00001
|
NM_032043.3(BRIP1):c.1594A>G (p.Met532Val)
|
rs876658383
|
0.00001
|
NM_032043.3(BRIP1):c.1594dup (p.Met532fs)
|
rs1339743866
|
0.00001
|
NM_032043.3(BRIP1):c.1607A>G (p.Tyr536Cys)
|
rs1060501752
|
0.00001
|
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu)
|
rs754414731
|
0.00001
|
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met)
|
rs587782254
|
0.00001
|
NM_032043.3(BRIP1):c.1670C>T (p.Ser557Phe)
|
rs1375911072
|
0.00001
|
NM_032043.3(BRIP1):c.1672T>C (p.Trp558Arg)
|
rs767648925
|
0.00001
|
NM_032043.3(BRIP1):c.1684A>G (p.Ile562Val)
|
rs45533636
|
0.00001
|
NM_032043.3(BRIP1):c.1704T>G (p.Asn568Lys)
|
rs763458922
|
0.00001
|
NM_032043.3(BRIP1):c.1742G>A (p.Arg581Gln)
|
rs587778133
|
0.00001
|
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu)
|
rs756946068
|
0.00001
|
NM_032043.3(BRIP1):c.1794+1G>A
|
rs766516963
|
0.00001
|
NM_032043.3(BRIP1):c.1794+1G>C
|
rs766516963
|
0.00001
|
NM_032043.3(BRIP1):c.1795-9T>G
|
rs777006706
|
0.00001
|
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)
|
rs575595017
|
0.00001
|
NM_032043.3(BRIP1):c.1942G>A (p.Val648Ile)
|
rs780475484
|
0.00001
|
NM_032043.3(BRIP1):c.1952T>C (p.Ile651Thr)
|
rs757305097
|
0.00001
|
NM_032043.3(BRIP1):c.1969G>C (p.Gly657Arg)
|
rs1051619247
|
0.00001
|
NM_032043.3(BRIP1):c.2056A>G (p.Thr686Ala)
|
rs769820537
|
0.00001
|
NM_032043.3(BRIP1):c.205G>A (p.Gly69Arg)
|
rs372581879
|
0.00001
|
NM_032043.3(BRIP1):c.206-2A>G
|
rs786203700
|
0.00001
|
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu)
|
rs587782356
|
0.00001
|
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)
|
rs764803896
|
0.00001
|
NM_032043.3(BRIP1):c.2167G>A (p.Val723Ile)
|
rs145616741
|
0.00001
|
NM_032043.3(BRIP1):c.2257+5C>T
|
rs1057523068
|
0.00001
|
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly)
|
rs745578572
|
0.00001
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
0.00001
|
NM_032043.3(BRIP1):c.2284C>T (p.Arg762Cys)
|
rs587778136
|
0.00001
|
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val)
|
rs142806416
|
0.00001
|
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)
|
rs587782574
|
0.00001
|
NM_032043.3(BRIP1):c.2379+1G>A
|
rs1555590286
|
0.00001
|
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)
|
rs730881622
|
0.00001
|
NM_032043.3(BRIP1):c.2393G>A (p.Arg798Gln)
|
rs375082407
|
0.00001
|
NM_032043.3(BRIP1):c.2402A>G (p.Asn801Ser)
|
rs1325317591
|
0.00001
|
NM_032043.3(BRIP1):c.2428C>G (p.Leu810Val)
|
rs587780238
|
0.00001
|
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)
|
rs45468199
|
0.00001
|
NM_032043.3(BRIP1):c.2464T>C (p.Tyr822His)
|
rs760887592
|
0.00001
|
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)
|
rs1483527885
|
0.00001
|
NM_032043.3(BRIP1):c.2477A>G (p.Asn826Ser)
|
rs760127237
|
0.00001
|
NM_032043.3(BRIP1):c.2492+5G>A
|
rs763222019
|
0.00001
|
NM_032043.3(BRIP1):c.24T>A (p.Tyr8Ter)
|
rs752411477
|
0.00001
|
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu)
|
rs587781830
|
0.00001
|
NM_032043.3(BRIP1):c.2569A>G (p.Ile857Val)
|
rs28904918
|
0.00001
|
NM_032043.3(BRIP1):c.2579T>C (p.Leu860Pro)
|
rs587780242
|
0.00001
|
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln)
|
rs781609846
|
0.00001
|
NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met)
|
rs587780244
|
0.00001
|
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs)
|
rs752780954
|
0.00001
|
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)
|
rs587782410
|
0.00001
|
NM_032043.3(BRIP1):c.2788T>C (p.Ser930Pro)
|
rs1384396768
|
0.00001
|
NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val)
|
rs863224801
|
0.00001
|
NM_032043.3(BRIP1):c.2802T>G (p.Phe934Leu)
|
rs1259968679
|
0.00001
|
NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr)
|
rs786201632
|
0.00001
|
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu)
|
rs587782679
|
0.00001
|
NM_032043.3(BRIP1):c.2905+3A>G
|
rs1555573247
|
0.00001
|
NM_032043.3(BRIP1):c.2906-1G>A
|
rs773639563
|
0.00001
|
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile)
|
rs786203224
|
0.00001
|
NM_032043.3(BRIP1):c.2930C>T (p.Ala977Val)
|
rs770352467
|
0.00001
|
NM_032043.3(BRIP1):c.2936A>G (p.Lys979Arg)
|
rs2061326120
|
0.00001
|
NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn)
|
rs587781417
|
0.00001
|
NM_032043.3(BRIP1):c.3038C>T (p.Thr1013Ile)
|
rs1372474933
|
0.00001
|
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)
|
rs747907706
|
0.00001
|
NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg)
|
rs147119272
|
0.00001
|
NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg)
|
rs763162379
|
0.00001
|
NM_032043.3(BRIP1):c.3122T>C (p.Met1041Thr)
|
rs761225576
|
0.00001
|
NM_032043.3(BRIP1):c.3140T>C (p.Leu1047Ser)
|
rs786203344
|
0.00001
|
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn)
|
rs373040333
|
0.00001
|
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile)
|
rs149016505
|
0.00001
|
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter)
|
rs1420431000
|
0.00001
|
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr)
|
rs150813402
|
0.00001
|
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser)
|
rs587782734
|
0.00001
|
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)
|
rs587780830
|
0.00001
|
NM_032043.3(BRIP1):c.3276G>A (p.Pro1092=)
|
rs375911315
|
0.00001
|
NM_032043.3(BRIP1):c.3388A>G (p.Ile1130Val)
|
rs786202549
|
0.00001
|
NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile)
|
rs778480809
|
0.00001
|
NM_032043.3(BRIP1):c.3460A>G (p.Arg1154Gly)
|
rs769359514
|
0.00001
|
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)
|
rs45603843
|
0.00001
|
NM_032043.3(BRIP1):c.3505G>T (p.Asp1169Tyr)
|
rs587782029
|
0.00001
|
NM_032043.3(BRIP1):c.3529A>C (p.Lys1177Gln)
|
rs756313788
|
0.00001
|
NM_032043.3(BRIP1):c.3533A>T (p.Glu1178Val)
|
rs752850661
|
0.00001
|
NM_032043.3(BRIP1):c.3556A>G (p.Lys1186Glu)
|
rs766709841
|
0.00001
|
NM_032043.3(BRIP1):c.3605A>G (p.Glu1202Gly)
|
rs776010326
|
0.00001
|
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met)
|
rs1046992728
|
0.00001
|
NM_032043.3(BRIP1):c.3727G>T (p.Gly1243Cys)
|
rs587780250
|
0.00001
|
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)
|
rs747604569
|
0.00001
|
NM_032043.3(BRIP1):c.509T>G (p.Ile170Ser)
|
rs1265322103
|
0.00001
|
NM_032043.3(BRIP1):c.612C>G (p.Ser204=)
|
rs587780832
|
0.00001
|
NM_032043.3(BRIP1):c.655T>C (p.Cys219Arg)
|
rs730881630
|
0.00001
|
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu)
|
rs45459799
|
0.00001
|
NM_032043.3(BRIP1):c.712A>C (p.Thr238Pro)
|
rs1490001091
|
0.00001
|
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe)
|
rs1060501776
|
0.00001
|
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val)
|
rs587781425
|
0.00001
|
NM_032043.3(BRIP1):c.919-10T>G
|
rs748497834
|
0.00001
|
NM_032043.3(BRIP1):c.932A>G (p.Tyr311Cys)
|
rs587782731
|
0.00001
|
NC_000017.11:g.(?_61780255)_(61781011_?)del
|
|
|
NM_032043.2(BRIP1):c.1474-7C>A
|
rs886041146
|
|
NM_032043.2(BRIP1):c.1474-?_1628+?del
|
|
|
NM_032043.2(BRIP1):c.196delinsCTC (p.Ser66fs)
|
rs1555618375
|
|
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs)
|
rs1555580957
|
|
NM_032043.2(BRIP1):c.505_506insAlu
|
|
|
NM_032043.2(BRIP1):c.630_637delCCCTGGCC
|
rs1603347058
|
|
NM_032043.3(BRIP1):c.-165A>G
|
rs1603369145
|
|
NM_032043.3(BRIP1):c.1001C>G (p.Ala334Gly)
|
|
|
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter)
|
rs1555607749
|
|
NM_032043.3(BRIP1):c.1005G>A (p.Trp335Ter)
|
rs786201808
|
|
NM_032043.3(BRIP1):c.1009A>G (p.Ile337Val)
|
rs1365389773
|
|
NM_032043.3(BRIP1):c.100A>G (p.Arg34Gly)
|
rs2145852980
|
|
NM_032043.3(BRIP1):c.100dup (p.Arg34fs)
|
|
|
NM_032043.3(BRIP1):c.1014A>G (p.Glu338=)
|
rs1490732516
|
|
NM_032043.3(BRIP1):c.1015G>T (p.Glu339Ter)
|
|
|
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs)
|
rs878855134
|
|
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)
|
rs373104267
|
|
NM_032043.3(BRIP1):c.1040T>C (p.Leu347Pro)
|
rs786201819
|
|
NM_032043.3(BRIP1):c.1048T>C (p.Cys350Arg)
|
rs876658173
|
|
NM_032043.3(BRIP1):c.1048del (p.Cys350fs)
|
|
|
NM_032043.3(BRIP1):c.1058dup (p.Tyr353Ter)
|
rs2145335621
|
|
NM_032043.3(BRIP1):c.106_107insG (p.Leu36fs)
|
|
|
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs)
|
rs1567831649
|
|
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs)
|
rs2145334953
|
|
NM_032043.3(BRIP1):c.1078C>T (p.Gln360Ter)
|
rs2145334576
|
|
NM_032043.3(BRIP1):c.107T>A (p.Leu36Ter)
|
|
|
NM_032043.3(BRIP1):c.1099T>C (p.Cys367Arg)
|
rs1567831592
|
|
NM_032043.3(BRIP1):c.1101del (p.Tyr369fs)
|
|
|
NM_032043.3(BRIP1):c.1106A>G (p.Tyr369Cys)
|
rs786202218
|
|
NM_032043.3(BRIP1):c.1107C>A (p.Tyr369Ter)
|
rs1489355776
|
|
NM_032043.3(BRIP1):c.1107C>G (p.Tyr369Ter)
|
rs1489355776
|
|
NM_032043.3(BRIP1):c.1109_1110dup (p.Tyr371fs)
|
rs1567831477
|
|
NM_032043.3(BRIP1):c.1111del (p.Tyr371fs)
|
|
|
NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs)
|
rs587783377
|
|
NM_032043.3(BRIP1):c.1121A>G (p.Asp374Gly)
|
rs1603343117
|
|
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter)
|
rs1028347439
|
|
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs)
|
rs587780224
|
|
NM_032043.3(BRIP1):c.112dup (p.Ser38fs)
|
rs2078951497
|
|
NM_032043.3(BRIP1):c.1131A>G (p.Ile377Met)
|
rs927733243
|
|
NM_032043.3(BRIP1):c.1132del (p.Arg378fs)
|
|
|
NM_032043.3(BRIP1):c.1138del (p.Ser380fs)
|
rs2077985927
|
|
NM_032043.3(BRIP1):c.1139G>T (p.Ser380Ile)
|
rs569696977
|
|
NM_032043.3(BRIP1):c.1140+5G>C
|
|
|
NM_032043.3(BRIP1):c.1140dup (p.Met381fs)
|
|
|
NM_032043.3(BRIP1):c.1141-2A>C
|
|
|
NM_032043.3(BRIP1):c.1141-2A>G
|
|
|
NM_032043.3(BRIP1):c.1141-2A>T
|
rs769583916
|
|
NM_032043.3(BRIP1):c.1141del (p.Met381fs)
|
|
|
NM_032043.3(BRIP1):c.1142T>C (p.Met381Thr)
|
rs1060501741
|
|
NM_032043.3(BRIP1):c.1142dup (p.Met381fs)
|
|
|
NM_032043.3(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer)
|
rs1603342339
|
|
NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter)
|
rs730881635
|
|
NM_032043.3(BRIP1):c.1158dup (p.Glu387fs)
|
|
|
NM_032043.3(BRIP1):c.1159G>T (p.Glu387Ter)
|
|
|
NM_032043.3(BRIP1):c.1162C>T (p.Gln388Ter)
|
rs1304655615
|
|
NM_032043.3(BRIP1):c.1165G>A (p.Val389Ile)
|
rs587780825
|
|
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
|
|
|
NM_032043.3(BRIP1):c.1184C>T (p.Ala395Val)
|
rs778992385
|
|
NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs)
|
rs730881647
|
|
NM_032043.3(BRIP1):c.1203_1204del (p.Ala402fs)
|
|
|
NM_032043.3(BRIP1):c.1222dup (p.Tyr408fs)
|
rs1603342258
|
|
NM_032043.3(BRIP1):c.1228del (p.Ser409_Val410insTer)
|
|
|
NM_032043.3(BRIP1):c.1229dup (p.Thr411fs)
|
|
|
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs)
|
rs1064795649
|
|
NM_032043.3(BRIP1):c.1236del (p.Val413fs)
|
rs863224525
|
|
NM_032043.3(BRIP1):c.1238T>C (p.Val413Ala)
|
rs45576134
|
|
NM_032043.3(BRIP1):c.1251T>A (p.Phe417Leu)
|
rs2077949494
|
|
NM_032043.3(BRIP1):c.1251dup (p.Ala418fs)
|
|
|
NM_032043.3(BRIP1):c.1255C>G (p.Arg419Gly)
|
rs150624408
|
|
NM_032043.3(BRIP1):c.1256G>C (p.Arg419Pro)
|
|
|
NM_032043.3(BRIP1):c.1261del (p.Glu421fs)
|
|
|
NM_032043.3(BRIP1):c.1271G>A (p.Ser424Asn)
|
rs1354610577
|
|
NM_032043.3(BRIP1):c.1283A>C (p.Asn428Thr)
|
rs779237423
|
|
NM_032043.3(BRIP1):c.1287_1291del (p.Asn429fs)
|
|
|
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs)
|
rs1064794202
|
|
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
|
|
|
NM_032043.3(BRIP1):c.1292G>A (p.Arg431Lys)
|
rs1328630889
|
|
NM_032043.3(BRIP1):c.1303C>T (p.His435Tyr)
|
rs1060501758
|
|
NM_032043.3(BRIP1):c.1312del (p.Leu438fs)
|
rs1064795413
|
|
NM_032043.3(BRIP1):c.132_139delinsTTTCCACTT (p.Leu44fs)
|
|
|
NM_032043.3(BRIP1):c.1336A>T (p.Ile446Phe)
|
|
|
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)
|
rs587781292
|
|
NM_032043.3(BRIP1):c.1340+1G>A
|
rs1555607022
|
|
NM_032043.3(BRIP1):c.1340+2_1340+5del
|
rs2077945546
|
|
NM_032043.3(BRIP1):c.1340+5G>C
|
rs869312791
|
|
NM_032043.3(BRIP1):c.1341-1G>C
|
|
|
NM_032043.3(BRIP1):c.1341-3C>G
|
rs864622597
|
|
NM_032043.3(BRIP1):c.1341-6T>A
|
|
|
NM_032043.3(BRIP1):c.1344G>A (p.Trp448Ter)
|
|
|
NM_032043.3(BRIP1):c.1355A>G (p.Asn452Ser)
|
rs1603340413
|
|
NM_032043.3(BRIP1):c.1356_1371del (p.Asn452fs)
|
rs2145243883
|
|
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter)
|
rs1555605955
|
|
NM_032043.3(BRIP1):c.1366C>G (p.Leu456Val)
|
|
|
NM_032043.3(BRIP1):c.1369G>A (p.Val457Ile)
|
rs748221377
|
|
NM_032043.3(BRIP1):c.1373A>G (p.Glu458Gly)
|
rs1555605942
|
|
NM_032043.3(BRIP1):c.1378_1379del (p.Asp460fs)
|
rs2145243385
|
|
NM_032043.3(BRIP1):c.1384G>T (p.Glu462Ter)
|
|
|
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter)
|
rs2145242325
|
|
NM_032043.3(BRIP1):c.1404dup (p.Ser469fs)
|
|
|
NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter)
|
rs1555605902
|
|
NM_032043.3(BRIP1):c.141del (p.Thr48fs)
|
rs587782065
|
|
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs)
|
rs768736851
|
|
NM_032043.3(BRIP1):c.1426del (p.Thr476fs)
|
|
|
NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser)
|
rs1567825164
|
|
NM_032043.3(BRIP1):c.1430T>C (p.Leu477Ser)
|
|
|
NM_032043.3(BRIP1):c.1443dup (p.Ile482fs)
|
|
|
NM_032043.3(BRIP1):c.1457del (p.Thr486fs)
|
rs2145239498
|
|
NM_032043.3(BRIP1):c.1457dup (p.Pro488fs)
|
rs2145239459
|
|
NM_032043.3(BRIP1):c.1470G>T (p.Leu490Phe)
|
rs1567824994
|
|
NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)
|
|
|
NM_032043.3(BRIP1):c.1471del (p.Gln491fs)
|
|
|
NM_032043.3(BRIP1):c.1473+1G>A
|
rs748274524
|
|
NM_032043.3(BRIP1):c.1473+1G>C
|
rs748274524
|
|
NM_032043.3(BRIP1):c.1474-13_1475del
|
rs1555603635
|
|
NM_032043.3(BRIP1):c.1474-1G>A
|
rs1555603638
|
|
NM_032043.3(BRIP1):c.1474-1G>C
|
|
|
NM_032043.3(BRIP1):c.1474-2A>G
|
rs1603337052
|
|
NM_032043.3(BRIP1):c.1483dup (p.Ser495fs)
|
rs1555603622
|
|
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs)
|
rs747214372
|
|
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter)
|
rs1060501739
|
|
NM_032043.3(BRIP1):c.1500dup (p.Glu501fs)
|
|
|
NM_032043.3(BRIP1):c.1504G>T (p.Glu502Ter)
|
|
|
NM_032043.3(BRIP1):c.1510del (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.1511T>C (p.Ile504Thr)
|
rs755306832
|
|
NM_032043.3(BRIP1):c.1529_1530del (p.Lys510fs)
|
|
|
NM_032043.3(BRIP1):c.1531G>T (p.Glu511Ter)
|
|
|
NM_032043.3(BRIP1):c.1543del (p.Glu515fs)
|
rs1064793812
|
|
NM_032043.3(BRIP1):c.1550C>T (p.Pro517Leu)
|
rs786202169
|
|
NM_032043.3(BRIP1):c.1568C>T (p.Thr523Ile)
|
rs1060501764
|
|
NM_032043.3(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu)
|
rs1064795196
|
|
NM_032043.3(BRIP1):c.1578G>A (p.Met526Ile)
|
rs2077668951
|
|
NM_032043.3(BRIP1):c.1580T>G (p.Leu527Arg)
|
rs1603336934
|
|
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
|
|
|
NM_032043.3(BRIP1):c.1582_1584delinsG (p.Lys528fs)
|
|
|
NM_032043.3(BRIP1):c.1585G>T (p.Gly529Ter)
|
|
|
NM_032043.3(BRIP1):c.158_159delinsTT (p.Ser53Ile)
|
rs786202417
|
|
NM_032043.3(BRIP1):c.158del (p.Ser53fs)
|
|
|
NM_032043.3(BRIP1):c.1591T>G (p.Phe531Val)
|
rs4988350
|
|
NM_032043.3(BRIP1):c.1592_1598del (p.Phe531fs)
|
|
|
NM_032043.3(BRIP1):c.1593dup (p.Met532fs)
|
|
|
NM_032043.3(BRIP1):c.1594del (p.Met532fs)
|
|
|
NM_032043.3(BRIP1):c.1598_1599dup (p.Leu534fs)
|
|
|
NM_032043.3(BRIP1):c.15G>A (p.Trp5Ter)
|
rs2078973424
|
|
NM_032043.3(BRIP1):c.1602_1606delinsC (p.Asp535fs)
|
|
|
NM_032043.3(BRIP1):c.1608del (p.Leu537fs)
|
rs2145135618
|
|
NM_032043.3(BRIP1):c.1614del (p.Phe538fs)
|
rs2077667669
|
|
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys)
|
rs199616792
|
|
NM_032043.3(BRIP1):c.1618C>T (p.Gln540Ter)
|
rs1603336897
|
|
NM_032043.3(BRIP1):c.1622del (p.Asn541fs)
|
rs1603336895
|
|
NM_032043.3(BRIP1):c.1623T>C (p.Asn541=)
|
rs786203897
|
|
NM_032043.3(BRIP1):c.1628+1G>C
|
rs1438975574
|
|
NM_032043.3(BRIP1):c.1628+1G>T
|
|
|
NM_032043.3(BRIP1):c.1628+2T>G
|
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
NM_032043.3(BRIP1):c.1629-1G>C
|
rs1060501757
|
|
NM_032043.3(BRIP1):c.1629-1G>T
|
rs1060501757
|
|
NM_032043.3(BRIP1):c.1629-7_1642del
|
|
|
NM_032043.3(BRIP1):c.1645_1649dup (p.Ala551fs)
|
rs1555602638
|
|
NM_032043.3(BRIP1):c.1652C>T (p.Ala551Val)
|
rs375246789
|
|
NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter)
|
rs777217004
|
|
NM_032043.3(BRIP1):c.1660_1661del (p.Gln554fs)
|
|
|
NM_032043.3(BRIP1):c.1661del (p.Gln554fs)
|
rs749762964
|
|
NM_032043.3(BRIP1):c.1662_1663del (p.Gln554fs)
|
rs1603334758
|
|
NM_032043.3(BRIP1):c.1676C>T (p.Thr559Ile)
|
rs876658266
|
|
NM_032043.3(BRIP1):c.1678_1682del (p.Asn560fs)
|
|
|
NM_032043.3(BRIP1):c.1686T>G (p.Ile562Met)
|
|
|
NM_032043.3(BRIP1):c.1686del (p.Ile562fs)
|
|
|
NM_032043.3(BRIP1):c.168_171del (p.Leu56fs)
|
rs1603367673
|
|
NM_032043.3(BRIP1):c.1697A>G (p.Asp566Gly)
|
|
|
NM_032043.3(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Asp566_Lys567insIleSerAsnTer)
|
rs878855140
|
|
NM_032043.3(BRIP1):c.1697del (p.Asp566fs)
|
rs2077609777
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
NM_032043.3(BRIP1):c.1702_1703delinsT (p.Asn568fs)
|
|
|
NM_032043.3(BRIP1):c.1702_1704del (p.Asn568del)
|
rs1555602554
|
|
NM_032043.3(BRIP1):c.1703del (p.Asn568fs)
|
|
|
NM_032043.3(BRIP1):c.1706G>T (p.Gly569Val)
|
rs373228183
|
|
NM_032043.3(BRIP1):c.1707del (p.Leu570fs)
|
rs2077609211
|
|
NM_032043.3(BRIP1):c.1708TTG[1] (p.Leu571del)
|
rs754566378
|
|
NM_032043.3(BRIP1):c.1727dup (p.Asn576fs)
|
rs587778131
|
|
NM_032043.3(BRIP1):c.1729A>T (p.Lys577Ter)
|
|
|
NM_032043.3(BRIP1):c.1734del (p.Lys578fs)
|
|
|
NM_032043.3(BRIP1):c.1734dup (p.Arg579fs)
|
|
|
NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter)
|
rs1356014648
|
|
NM_032043.3(BRIP1):c.173dup (p.Cys58fs)
|
|
|
NM_032043.3(BRIP1):c.1744C>T (p.Gln582Ter)
|
|
|
NM_032043.3(BRIP1):c.1758del (p.His587fs)
|
|
|
NM_032043.3(BRIP1):c.1759del (p.His587fs)
|
|
|
NM_032043.3(BRIP1):c.1760A>T (p.His587Leu)
|
rs876660646
|
|
NM_032043.3(BRIP1):c.176_180delinsTTGCAGTTACAAAACAAAGCATGGCAACAATCTC (p.Ser59fs)
|
|
|
NM_032043.3(BRIP1):c.1770_1771delinsA (p.Asn590fs)
|
|
|
NM_032043.3(BRIP1):c.1770del (p.Trp592fs)
|
rs2145091141
|
|
NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter)
|
rs753023295
|
|
NM_032043.3(BRIP1):c.1786C>A (p.Pro596Thr)
|
|
|
NM_032043.3(BRIP1):c.1791del (p.Val598fs)
|
rs1567813223
|
|
NM_032043.3(BRIP1):c.1801del (p.Ser601fs)
|
rs2145081748
|
|
NM_032043.3(BRIP1):c.1802C>A (p.Ser601Ter)
|
|
|
NM_032043.3(BRIP1):c.1803del (p.Asp602fs)
|
|
|
NM_032043.3(BRIP1):c.180_190del (p.Leu61fs)
|
|
|
NM_032043.3(BRIP1):c.1825A>G (p.Thr609Ala)
|
rs189758577
|
|
NM_032043.3(BRIP1):c.182T>G (p.Leu61Ter)
|
|
|
NM_032043.3(BRIP1):c.1831del (p.Val611fs)
|
rs1567812616
|
|
NM_032043.3(BRIP1):c.1836G>T (p.Leu612Phe)
|
rs1464898721
|
|
NM_032043.3(BRIP1):c.1838C>T (p.Thr613Ile)
|
rs864622345
|
|
NM_032043.3(BRIP1):c.1850T>A (p.Leu617Ter)
|
|
|
NM_032043.3(BRIP1):c.1852T>C (p.Ser618Pro)
|
rs876660191
|
|
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)
|
rs587781985
|
|
NM_032043.3(BRIP1):c.1870del (p.Ser624fs)
|
|
|
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu)
|
rs587781321
|
|
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs)
|
rs763818712
|
|
NM_032043.3(BRIP1):c.1889del (p.Thr630fs)
|
rs1064793626
|
|
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter)
|
rs1603367649
|
|
NM_032043.3(BRIP1):c.1892_1893del (p.Phe631fs)
|
|
|
NM_032043.3(BRIP1):c.1897A>C (p.Ile633Leu)
|
rs765314472
|
|
NM_032043.3(BRIP1):c.1900C>T (p.Gln634Ter)
|
|
|
NM_032043.3(BRIP1):c.1911dup (p.Asn638Ter)
|
|
|
NM_032043.3(BRIP1):c.1921A>T (p.Ile641Phe)
|
rs1603333007
|
|
NM_032043.3(BRIP1):c.1928del (p.Asn643fs)
|
|
|
NM_032043.3(BRIP1):c.1931C>A (p.Ser644Ter)
|
|
|
NM_032043.3(BRIP1):c.1932A>T (p.Ser644=)
|
rs1603332998
|
|
NM_032043.3(BRIP1):c.1934A>G (p.Gln645Arg)
|
rs876660648
|
|
NM_032043.3(BRIP1):c.1935+4A>T
|
rs1603332968
|
|
NM_032043.3(BRIP1):c.1935+4_1935+7del
|
rs766199221
|
|
NM_032043.3(BRIP1):c.1935+8G>T
|
rs767048212
|
|
NM_032043.3(BRIP1):c.1936-1G>A
|
rs1555601204
|
|
NM_032043.3(BRIP1):c.1936-2A>C
|
rs878855143
|
|
NM_032043.3(BRIP1):c.1936-5_1936-4delinsGT
|
rs587781481
|
|
NM_032043.3(BRIP1):c.1936del
|
rs1567809140
|
|
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.1961delinsAATGGTTTGGTACCATTGGGTCAGAATTGGGTCCGA (p.Gly654fs)
|
|
|
NM_032043.3(BRIP1):c.1966A>T (p.Lys656Ter)
|
|
|
NM_032043.3(BRIP1):c.1967dup (p.Arg658fs)
|
rs2077537050
|
|
NM_032043.3(BRIP1):c.1970del (p.Gly657fs)
|
rs760782298
|
|
NM_032043.3(BRIP1):c.1978C>T (p.Leu660Phe)
|
rs1060501746
|
|
NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter)
|
rs1603328780
|
|
NM_032043.3(BRIP1):c.200_201dup (p.Ser68fs)
|
rs1555618374
|
|
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)
|
rs775537066
|
|
NM_032043.3(BRIP1):c.2012A>G (p.Glu671Gly)
|
rs587778135
|
|
NM_032043.3(BRIP1):c.2015delinsCC (p.Phe672fs)
|
rs1555601094
|
|
NM_032043.3(BRIP1):c.2017C>T (p.Gln673Ter)
|
|
|
NM_032043.3(BRIP1):c.2018A>G (p.Gln673Arg)
|
rs786203619
|
|
NM_032043.3(BRIP1):c.2023dup (p.Glu675fs)
|
rs2145029870
|
|
NM_032043.3(BRIP1):c.2030del (p.Gly677fs)
|
rs1555601064
|
|
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)
|
rs587778134
|
|
NM_032043.3(BRIP1):c.2038_2042del (p.Leu680fs)
|
rs1400202829
|
|
NM_032043.3(BRIP1):c.2040_2044del (p.Leu680fs)
|
rs2077534283
|
|
NM_032043.3(BRIP1):c.2045_2046del (p.Ser682fs)
|
|
|
NM_032043.3(BRIP1):c.204_205+1delinsAGT
|
|
|
NM_032043.3(BRIP1):c.205+1G>C
|
|
|
NM_032043.3(BRIP1):c.205+1del
|
rs1057517648
|
|
NM_032043.3(BRIP1):c.205+2T>C
|
rs1060501763
|
|
NM_032043.3(BRIP1):c.205+5G>T
|
rs2078948368
|
|
NM_032043.3(BRIP1):c.2058dup (p.Val687fs)
|
|
|
NM_032043.3(BRIP1):c.2060_2061del (p.Val687fs)
|
|
|
NM_032043.3(BRIP1):c.2075del (p.Leu692fs)
|
|
|
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs)
|
rs1603328466
|
|
NM_032043.3(BRIP1):c.2082del (p.Leu695fs)
|
|
|
NM_032043.3(BRIP1):c.2085dup (p.Pro696fs)
|
rs1060501772
|
|
NM_032043.3(BRIP1):c.2097+1G>C
|
rs786202941
|
|
NM_032043.3(BRIP1):c.2097+2T>A
|
rs2077532634
|
|
NM_032043.3(BRIP1):c.2098-8C>T
|
rs917048033
|
|
NM_032043.3(BRIP1):c.2099T>A (p.Leu700Ter)
|
|
|
NM_032043.3(BRIP1):c.2102T>G (p.Leu701Ter)
|
rs876658270
|
|
NM_032043.3(BRIP1):c.2103del (p.Glu702fs)
|
rs2144701568
|
|
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs)
|
rs786203384
|
|
NM_032043.3(BRIP1):c.2109del (p.Lys703fs)
|
rs2144701307
|
|
NM_032043.3(BRIP1):c.2109dup (p.Leu704fs)
|
|
|
NM_032043.3(BRIP1):c.210del (p.Lys70fs)
|
rs1555617925
|
|
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter)
|
rs1057517643
|
|
NM_032043.3(BRIP1):c.2111T>G (p.Leu704Ter)
|
rs1057517643
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
NM_032043.3(BRIP1):c.2123G>A (p.Trp708Ter)
|
|
|
NM_032043.3(BRIP1):c.2124G>A (p.Trp708Ter)
|
|
|
NM_032043.3(BRIP1):c.2126T>C (p.Leu709Pro)
|
rs1567781600
|
|
NM_032043.3(BRIP1):c.2132C>T (p.Thr711Ile)
|
|
|
NM_032043.3(BRIP1):c.2133del (p.Gly712fs)
|
rs1567781543
|
|
NM_032043.3(BRIP1):c.2134G>A (p.Gly712Ser)
|
|
|
NM_032043.3(BRIP1):c.2138T>G (p.Leu713Ter)
|
rs878855145
|
|
NM_032043.3(BRIP1):c.2139_2257+80del
|
|
|
NM_032043.3(BRIP1):c.2143_2163delinsTTCT (p.His715fs)
|
|
|
NM_032043.3(BRIP1):c.2158G>A (p.Val720Met)
|
rs1555591459
|
|
NM_032043.3(BRIP1):c.2166del (p.Val723fs)
|
|
|
NM_032043.3(BRIP1):c.2166dup (p.Val723fs)
|
|
|
NM_032043.3(BRIP1):c.2177A>G (p.Glu726Gly)
|
|
|
NM_032043.3(BRIP1):c.2181A>G (p.Pro727=)
|
rs1603304559
|
|
NM_032043.3(BRIP1):c.2182C>T (p.Gln728Ter)
|
rs1296238058
|
|
NM_032043.3(BRIP1):c.2194A>T (p.Lys732Ter)
|
|
|
NM_032043.3(BRIP1):c.2196_2197dup (p.Thr733fs)
|
rs2144697372
|
|
NM_032043.3(BRIP1):c.2197del (p.Thr733fs)
|
rs2144697372
|
|
NM_032043.3(BRIP1):c.2205dup (p.Asp736Ter)
|
rs1555591385
|
|
NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter)
|
rs1555591361
|
|
NM_032043.3(BRIP1):c.2218del (p.Gln740fs)
|
rs1555591365
|
|
NM_032043.3(BRIP1):c.2221dup (p.Val741fs)
|
rs1567781169
|
|
NM_032043.3(BRIP1):c.2223_2225dup (p.Tyr742Ter)
|
rs1310861578
|
|
NM_032043.3(BRIP1):c.2229T>G (p.Tyr743Ter)
|
rs2077030288
|
|
NM_032043.3(BRIP1):c.2234dup (p.Ile746fs)
|
|
|
NM_032043.3(BRIP1):c.2237_2240del (p.Ile746fs)
|
rs587782726
|
|
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)
|
rs1257401983
|
|
NM_032043.3(BRIP1):c.2249G>T (p.Gly750Val)
|
rs764061653
|
|
NM_032043.3(BRIP1):c.2251_2254del (p.Glu751fs)
|
rs1555591308
|
|
NM_032043.3(BRIP1):c.2252_2255delAGAA (p.Lys752fs)
|
|
|
NM_032043.3(BRIP1):c.2253_2254del (p.Lys752fs)
|
rs1555591308
|
|
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)
|
rs730881649
|
|
NM_032043.3(BRIP1):c.2257+2T>G
|
|
|
NM_032043.3(BRIP1):c.2258-1G>A
|
rs1064793887
|
|
NM_032043.3(BRIP1):c.2258-1G>C
|
|
|
NM_032043.3(BRIP1):c.2258-1G>T
|
rs1064793887
|
|
NM_032043.3(BRIP1):c.2258-2A>C
|
|
|
NM_032043.3(BRIP1):c.2258-2A>T
|
|
|
NM_032043.3(BRIP1):c.2258-3A>G
|
rs786203561
|
|
NM_032043.3(BRIP1):c.227dup (p.Ser77fs)
|
|
|
NM_032043.3(BRIP1):c.2281del (p.Cys761fs)
|
rs1555590521
|
|
NM_032043.3(BRIP1):c.2282G>C (p.Cys761Ser)
|
rs1567779745
|
|
NM_032043.3(BRIP1):c.2298_2301del (p.Ser766fs)
|
rs2144678308
|
|
NM_032043.3(BRIP1):c.2301G>C (p.Glu767Asp)
|
rs369434185
|
|
NM_032043.3(BRIP1):c.2307G>A (p.Leu769=)
|
rs1555590464
|
|
NM_032043.3(BRIP1):c.2313_2319del (p.Phe771fs)
|
rs758128094
|
|
NM_032043.3(BRIP1):c.2315C>A (p.Ser772Ter)
|
|
|
NM_032043.3(BRIP1):c.2325T>G (p.Asn775Lys)
|
rs375146450
|
|
NM_032043.3(BRIP1):c.2329C>T (p.Arg777Cys)
|
rs768555161
|
|
NM_032043.3(BRIP1):c.2334_2337dup (p.Ile780fs)
|
|
|
NM_032043.3(BRIP1):c.2339T>G (p.Ile780Arg)
|
rs1467232177
|
|
NM_032043.3(BRIP1):c.2339_2340del (p.Ile780fs)
|
|
|
NM_032043.3(BRIP1):c.2341del (p.Thr781fs)
|
|
|
NM_032043.3(BRIP1):c.2341dup (p.Thr781fs)
|
rs1555590388
|
|
NM_032043.3(BRIP1):c.2350del (p.Ile784fs)
|
|
|
NM_032043.3(BRIP1):c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA (p.Val789fs)
|
|
|
NM_032043.3(BRIP1):c.2370_2379+20del
|
rs2144674380
|
|
NM_032043.3(BRIP1):c.2379+1G>T
|
rs1555590286
|
|
NM_032043.3(BRIP1):c.2379+2T>A
|
|
|
NM_032043.3(BRIP1):c.2379+7C>T
|
rs1057520464
|
|
NM_032043.3(BRIP1):c.2380-1G>A
|
rs1567756032
|
|
NM_032043.3(BRIP1):c.2380-20A>G
|
rs977667900
|
|
NM_032043.3(BRIP1):c.2380-29A>G
|
|
|
NM_032043.3(BRIP1):c.2380-45_2402delinsTTGACCATTTGAATGGT
|
rs2061856480
|
|
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter)
|
rs2144384208
|
|
NM_032043.3(BRIP1):c.2391dup (p.Arg798fs)
|
|
|
NM_032043.3(BRIP1):c.2400C>A (p.Tyr800Ter)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2400C>T (p.Tyr800=)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2411A>G (p.His804Arg)
|
rs777277034
|
|
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter)
|
rs2061855838
|
|
NM_032043.3(BRIP1):c.241del (p.Glu81fs)
|
rs1292988272
|
|
NM_032043.3(BRIP1):c.2422A>G (p.Arg808Gly)
|
rs587780237
|
|
NM_032043.3(BRIP1):c.2426G>T (p.Gly809Val)
|
rs1555580886
|
|
NM_032043.3(BRIP1):c.2431_2432delinsTTC (p.Leu811fs)
|
|
|
NM_032043.3(BRIP1):c.243del (p.Val82fs)
|
rs1064794890
|
|
NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)
|
|
|
NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter)
|
rs786204250
|
|
NM_032043.3(BRIP1):c.2448G>A (p.Trp816Ter)
|
rs1064795352
|
|
NM_032043.3(BRIP1):c.2448del (p.Trp816fs)
|
|
|
NM_032043.3(BRIP1):c.2450A>G (p.Tyr817Cys)
|
rs1555580828
|
|
NM_032043.3(BRIP1):c.2458C>T (p.Gln820Ter)
|
rs2061854079
|
|
NM_032043.3(BRIP1):c.2459A>C (p.Gln820Pro)
|
|
|
NM_032043.3(BRIP1):c.2466delinsACA (p.Tyr822Ter)
|
|
|
NM_032043.3(BRIP1):c.2467del (p.Arg823fs)
|
|
|
NM_032043.3(BRIP1):c.2472C>T (p.Ala824=)
|
rs767666616
|
|
NM_032043.3(BRIP1):c.2474_2485delinsG (p.Leu825fs)
|
|
|
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)
|
rs786203898
|
|
NM_032043.3(BRIP1):c.247C>T (p.Gln83Ter)
|
|
|
NM_032043.3(BRIP1):c.2490dup (p.Arg831Ter)
|
|
|
NM_032043.3(BRIP1):c.2491del (p.Arg831fs)
|
rs1555580769
|
|
NM_032043.3(BRIP1):c.2492+1G>C
|
rs1567755539
|
|
NM_032043.3(BRIP1):c.2492+1G>T
|
|
|
NM_032043.3(BRIP1):c.2492+1del
|
rs1603293314
|
|
NM_032043.3(BRIP1):c.2492_2492+5del
|
rs1603293306
|
|
NM_032043.3(BRIP1):c.2493-1G>A
|
rs786203451
|
|
NM_032043.3(BRIP1):c.2493-1G>C
|
rs786203451
|
|
NM_032043.3(BRIP1):c.2493-2A>G
|
rs1603280621
|
|
NM_032043.3(BRIP1):c.2497A>G (p.Ile833Val)
|
rs199831248
|
|
NM_032043.3(BRIP1):c.2498T>C (p.Ile833Thr)
|
rs876660936
|
|
NM_032043.3(BRIP1):c.2507_2508del (p.Arg836fs)
|
rs2061478781
|
|
NM_032043.3(BRIP1):c.2516G>A (p.Trp839Ter)
|
|
|
NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter)
|
rs1555574803
|
|
NM_032043.3(BRIP1):c.251del (p.Leu84fs)
|
|
|
NM_032043.3(BRIP1):c.2520_2521dup (p.Ala841fs)
|
|
|
NM_032043.3(BRIP1):c.2523_2538delinsCC (p.Leu842fs)
|
rs1603280507
|
|
NM_032043.3(BRIP1):c.2524_2525del (p.Leu842fs)
|
rs1555574788
|
|
NM_032043.3(BRIP1):c.2533dup (p.Val845fs)
|
|
|
NM_032043.3(BRIP1):c.2536G>C (p.Asp846His)
|
rs876659409
|
|
NM_032043.3(BRIP1):c.2540A>T (p.Asp847Val)
|
|
|
NM_032043.3(BRIP1):c.2542C>G (p.Arg848Gly)
|
rs45572934
|
|
NM_032043.3(BRIP1):c.2549G>A (p.Arg850Lys)
|
rs2061477480
|
|
NM_032043.3(BRIP1):c.2558del (p.Pro853fs)
|
|
|
NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del)
|
rs587781388
|
|
NM_032043.3(BRIP1):c.2575+1G>A
|
rs1567737536
|
|
NM_032043.3(BRIP1):c.2575+1G>T
|
rs1567737536
|
|
NM_032043.3(BRIP1):c.2575+2dup
|
rs1555574711
|
|
NM_032043.3(BRIP1):c.2575+6A>G
|
rs1555574710
|
|
NM_032043.3(BRIP1):c.2576-17T>G
|
rs1057517647
|
|
NM_032043.3(BRIP1):c.2576-1G>A
|
rs587782539
|
|
NM_032043.3(BRIP1):c.2576-1G>T
|
rs587782539
|
|
NM_032043.3(BRIP1):c.2576-2A>C
|
|
|
NM_032043.3(BRIP1):c.2576-2A>G
|
rs869312763
|
|
NM_032043.3(BRIP1):c.2576G>A (p.Gly859Glu)
|
|
|
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs)
|
rs1567732136
|
|
NM_032043.3(BRIP1):c.2589G>A (p.Trp863Ter)
|
rs1555573497
|
|
NM_032043.3(BRIP1):c.2589_2590insTACG (p.Val864fs)
|
rs1603277005
|
|
NM_032043.3(BRIP1):c.258_269del (p.Cys87_Cys90del)
|
rs730881648
|
|
NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)
|
|
|
NM_032043.3(BRIP1):c.2599C>T (p.Gln867Ter)
|
|
|
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)
|
rs1060501766
|
|
NM_032043.3(BRIP1):c.2615C>A (p.Ser872Ter)
|
|
|
NM_032043.3(BRIP1):c.2647G>A (p.Glu883Lys)
|
rs2061359691
|
|
NM_032043.3(BRIP1):c.2649del (p.Glu883fs)
|
|
|
NM_032043.3(BRIP1):c.2650T>A (p.Phe884Ile)
|
rs587780243
|
|
NM_032043.3(BRIP1):c.2656A>T (p.Lys886Ter)
|
|
|
NM_032043.3(BRIP1):c.2662C>G (p.His888Asp)
|
rs757668121
|
|
NM_032043.3(BRIP1):c.266C>G (p.Ala89Gly)
|
rs1349422972
|
|
NM_032043.3(BRIP1):c.2671del (p.Val891fs)
|
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
NM_032043.3(BRIP1):c.2690del (p.Lys897fs)
|
rs2061358219
|
|
NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)
|
|
|
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter)
|
rs1060501740
|
|
NM_032043.3(BRIP1):c.2710G>A (p.Asp904Asn)
|
rs1555573413
|
|
NM_032043.3(BRIP1):c.2714del (p.Asn905fs)
|
rs2144114210
|
|
NM_032043.3(BRIP1):c.2725C>G (p.Leu909Val)
|
rs587781853
|
|
NM_032043.3(BRIP1):c.2735C>A (p.Thr912Asn)
|
rs571949350
|
|
NM_032043.3(BRIP1):c.2754dup (p.Ser919fs)
|
|
|
NM_032043.3(BRIP1):c.2755delinsCC (p.Ser919fs)
|
|
|
NM_032043.3(BRIP1):c.275C>G (p.Ser92Ter)
|
rs1603366351
|
|
NM_032043.3(BRIP1):c.2763T>G (p.Tyr921Ter)
|
|
|
NM_032043.3(BRIP1):c.2770G>T (p.Glu924Ter)
|
|
|
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs)
|
rs1295703239
|
|
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
|
|
|
NM_032043.3(BRIP1):c.2792C>T (p.Pro931Leu)
|
rs932408573
|
|
NM_032043.3(BRIP1):c.2798dup (p.Asn933fs)
|
|
|
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)
|
rs140233356
|
|
NM_032043.3(BRIP1):c.2831A>G (p.Gln944Arg)
|
rs148232408
|
|
NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter)
|
rs863224802
|
|
NM_032043.3(BRIP1):c.2835_2838del (p.Glu945fs)
|
|
|
NM_032043.3(BRIP1):c.2846del (p.Pro949fs)
|
|
|
NM_032043.3(BRIP1):c.2864del (p.Asn955fs)
|
|
|
NM_032043.3(BRIP1):c.2870C>T (p.Pro957Leu)
|
rs786203077
|
|
NM_032043.3(BRIP1):c.2893A>G (p.Arg965Gly)
|
|
|
NM_032043.3(BRIP1):c.2893del (p.Arg965fs)
|
|
|
NM_032043.3(BRIP1):c.2899G>A (p.Glu967Lys)
|
rs1305928655
|
|
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
|
|
|
NM_032043.3(BRIP1):c.2902delA (p.Asn969fs)
|
|
|
NM_032043.3(BRIP1):c.2905+1G>A
|
rs876660203
|
|
NM_032043.3(BRIP1):c.2905+1G>T
|
rs876660203
|
|
NM_032043.3(BRIP1):c.2905+31T>C
|
rs1603276473
|
|
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs)
|
rs763009188
|
|
NM_032043.3(BRIP1):c.2916_2917del (p.Phe973fs)
|
|
|
NM_032043.3(BRIP1):c.2917T>A (p.Phe973Ile)
|
rs1060501727
|
|
NM_032043.3(BRIP1):c.292_293del (p.Asn97_Asn98insTer)
|
rs2145828926
|
|
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)
|
rs774684620
|
|
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs)
|
rs774684620
|
|
NM_032043.3(BRIP1):c.2950_3019del (p.Val984fs)
|
|
|
NM_032043.3(BRIP1):c.2962del (p.Ser988fs)
|
rs2061324917
|
|
NM_032043.3(BRIP1):c.2974A>T (p.Thr992Ser)
|
rs1276811545
|
|
NM_032043.3(BRIP1):c.2990C>G (p.Thr997Arg)
|
|
|
NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile)
|
rs749978235
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2991A>G (p.Thr997=)
|
rs45466996
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)
|
rs786203717
|
|
NM_032043.3(BRIP1):c.2994G>C (p.Lys998Asn)
|
rs757225144
|
|
NM_032043.3(BRIP1):c.299T>C (p.Met100Thr)
|
rs587782427
|
|
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)
|
rs763443434
|
|
NM_032043.3(BRIP1):c.3005G>C (p.Trp1002Ser)
|
|
|
NM_032043.3(BRIP1):c.304C>T (p.Gln102Ter)
|
|
|
NM_032043.3(BRIP1):c.3076T>C (p.Ser1026Pro)
|
rs756712872
|
|
NM_032043.3(BRIP1):c.3083A>G (p.Asn1028Ser)
|
rs1060501762
|
|
NM_032043.3(BRIP1):c.3086del (p.Ser1029fs)
|
|
|
NM_032043.3(BRIP1):c.30del (p.Ile10fs)
|
rs1567878234
|
|
NM_032043.3(BRIP1):c.3118A>C (p.Lys1040Gln)
|
rs876659428
|
|
NM_032043.3(BRIP1):c.314C>G (p.Ser105Ter)
|
rs1555617829
|
|
NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter)
|
rs1603275438
|
|
NM_032043.3(BRIP1):c.316C>A (p.Arg106Ser)
|
rs587780247
|
|
NM_032043.3(BRIP1):c.318del (p.His107fs)
|
|
|
NM_032043.3(BRIP1):c.3199T>C (p.Cys1067Arg)
|
rs878855153
|
|
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)
|
rs748598593
|
|
NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter)
|
rs777213170
|
|
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer)
|
rs1603275367
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
|
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs)
|
rs771654971
|
|
NM_032043.3(BRIP1):c.3271C>T (p.His1091Tyr)
|
rs1555572732
|
|
NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln)
|
rs587780830
|
|
NM_032043.3(BRIP1):c.3292_3302delinsTTGTCTCTGGATCCAG (p.Ala1098fs)
|
rs1555572707
|
|
NM_032043.3(BRIP1):c.330T>G (p.Tyr110Ter)
|
|
|
NM_032043.3(BRIP1):c.3311A>T (p.Glu1104Val)
|
rs1567728360
|
|
NM_032043.3(BRIP1):c.332dup (p.Ser112fs)
|
|
|
NM_032043.3(BRIP1):c.3353A>G (p.Asn1118Ser)
|
rs1060501773
|
|
NM_032043.3(BRIP1):c.3367A>G (p.Thr1123Ala)
|
rs754056526
|
|
NM_032043.3(BRIP1):c.3375AGA[1] (p.Glu1126del)
|
|
|
NM_032043.3(BRIP1):c.3389T>C (p.Ile1130Thr)
|
rs1057522432
|
|
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)
|
rs778664039
|
|
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs)
|
rs756853672
|
|
NM_032043.3(BRIP1):c.3412G>T (p.Asp1138Tyr)
|
rs587780249
|
|
NM_032043.3(BRIP1):c.3425C>G (p.Thr1142Arg)
|
rs1279318199
|
|
NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly)
|
rs774605759
|
|
NM_032043.3(BRIP1):c.3436A>G (p.Lys1146Glu)
|
rs786202247
|
|
NM_032043.3(BRIP1):c.3461G>C (p.Arg1154Thr)
|
rs1057522433
|
|
NM_032043.3(BRIP1):c.3461_3462delinsAAG (p.Arg1154fs)
|
|
|
NM_032043.3(BRIP1):c.349G>T (p.Glu117Ter)
|
rs786203890
|
|
NM_032043.3(BRIP1):c.3508C>T (p.Leu1170Phe)
|
|
|
NM_032043.3(BRIP1):c.3528_3529insTTT (p.Ile1176_Lys1177insPhe)
|
|
|
NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser)
|
rs889877039
|
|
NM_032043.3(BRIP1):c.359G>A (p.Gly120Asp)
|
rs730881637
|
|
NM_032043.3(BRIP1):c.35_39del (p.Gly12fs)
|
|
|
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)
|
rs542698396
|
|
NM_032043.3(BRIP1):c.3662T>G (p.Leu1221Arg)
|
rs778805688
|
|
NM_032043.3(BRIP1):c.368C>A (p.Ser123Ter)
|
|
|
NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val)
|
rs876659290
|
|
NM_032043.3(BRIP1):c.3701T>G (p.Phe1234Cys)
|
rs587778137
|
|
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala)
|
rs45617634
|
|
NM_032043.3(BRIP1):c.3737C>G (p.Pro1246Arg)
|
|
|
NM_032043.3(BRIP1):c.3737C>T (p.Pro1246Leu)
|
rs876660074
|
|
NM_032043.3(BRIP1):c.3749A>T (p.Ter1250Leu)
|
rs1603274602
|
|
NM_032043.3(BRIP1):c.376C>T (p.Gln126Ter)
|
|
|
NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)
|
|
|
NM_032043.3(BRIP1):c.37dup (p.Val13fs)
|
|
|
NM_032043.3(BRIP1):c.380-14A>G
|
|
|
NM_032043.3(BRIP1):c.380-17dup
|
rs545021924
|
|
NM_032043.3(BRIP1):c.380-6T>C
|
rs780921390
|
|
NM_032043.3(BRIP1):c.386dup (p.Pro129_Glu130insTer)
|
rs876660080
|
|
NM_032043.3(BRIP1):c.394dup (p.Thr132fs)
|
rs587781416
|
|
NM_032043.3(BRIP1):c.396_400del (p.Thr133fs)
|
rs1555616206
|
|
NM_032043.3(BRIP1):c.403del (p.Ala135fs)
|
rs2078781062
|
|
NM_032043.3(BRIP1):c.408A>C (p.Ala136=)
|
rs876660891
|
|
NM_032043.3(BRIP1):c.409_410del (p.Lys137fs)
|
rs1057520058
|
|
NM_032043.3(BRIP1):c.40A>T (p.Lys14Ter)
|
rs1555618727
|
|
NM_032043.3(BRIP1):c.424_466del (p.Lys141_Lys142insTer)
|
|
|
NM_032043.3(BRIP1):c.427C>T (p.Gln143Ter)
|
|
|
NM_032043.3(BRIP1):c.428_447del (p.Gln143fs)
|
|
|
NM_032043.3(BRIP1):c.438_440delinsCT (p.Tyr147fs)
|
rs786203429
|
|
NM_032043.3(BRIP1):c.439T>C (p.Tyr147His)
|
rs1567868580
|
|
NM_032043.3(BRIP1):c.440del (p.Tyr147fs)
|
rs1555616176
|
|
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter)
|
rs786203521
|
|
NM_032043.3(BRIP1):c.441_445delinsA (p.Tyr147_Asp149delinsTer)
|
|
|
NM_032043.3(BRIP1):c.444del (p.Asp149fs)
|
|
|
NM_032043.3(BRIP1):c.448G>T (p.Glu150Ter)
|
rs762701532
|
|
NM_032043.3(BRIP1):c.462dup (p.Gln155fs)
|
rs1567868477
|
|
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter)
|
rs587781786
|
|
NM_032043.3(BRIP1):c.465A>G (p.Gln155=)
|
rs876659453
|
|
NM_032043.3(BRIP1):c.466G>T (p.Val156Leu)
|
rs876659373
|
|
NM_032043.3(BRIP1):c.469G>T (p.Glu157Ter)
|
|
|
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)
|
rs876660613
|
|
NM_032043.3(BRIP1):c.474del (p.Arg160fs)
|
rs1603362580
|
|
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs)
|
rs1555616143
|
|
NM_032043.3(BRIP1):c.478del (p.Arg160fs)
|
rs1555616150
|
|
NM_032043.3(BRIP1):c.485G>A (p.Arg162Gln)
|
rs61757643
|
|
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu)
|
rs61757643
|
|
NM_032043.3(BRIP1):c.491T>G (p.Leu164Ter)
|
|
|
NM_032043.3(BRIP1):c.502C>A (p.Gln168Lys)
|
rs748211848
|
|
NM_032043.3(BRIP1):c.502C>T (p.Gln168Ter)
|
|
|
NM_032043.3(BRIP1):c.503dup (p.Gln169fs)
|
|
|
NM_032043.3(BRIP1):c.507+1G>T
|
rs2145761239
|
|
NM_032043.3(BRIP1):c.507+1del
|
|
|
NM_032043.3(BRIP1):c.507+9_507+10del
|
rs747185394
|
|
NM_032043.3(BRIP1):c.507G>A (p.Gln169=)
|
rs876660937
|
|
NM_032043.3(BRIP1):c.507G>C (p.Gln169His)
|
|
|
NM_032043.3(BRIP1):c.507G>T (p.Gln169His)
|
rs876660937
|
|
NM_032043.3(BRIP1):c.508-1G>C
|
rs864622277
|
|
NM_032043.3(BRIP1):c.508-1G>T
|
rs864622277
|
|
NM_032043.3(BRIP1):c.508-2A>T
|
rs876659707
|
|
NM_032043.3(BRIP1):c.514A>T (p.Lys172Ter)
|
rs1060501765
|
|
NM_032043.3(BRIP1):c.51_55del (p.Phe17fs)
|
|
|
NM_032043.3(BRIP1):c.535_536dup (p.Val180fs)
|
|
|
NM_032043.3(BRIP1):c.53del (p.Pro18fs)
|
|
|
NM_032043.3(BRIP1):c.548T>A (p.Leu183Ter)
|
|
|
NM_032043.3(BRIP1):c.548del (p.Leu183fs)
|
rs1060501778
|
|
NM_032043.3(BRIP1):c.558del (p.Val187fs)
|
|
|
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs)
|
rs1567878148
|
|
NM_032043.3(BRIP1):c.561del (p.Asp188fs)
|
|
|
NM_032043.3(BRIP1):c.566C>A (p.Ser189Ter)
|
|
|
NM_032043.3(BRIP1):c.568G>T (p.Gly190Ter)
|
|
|
NM_032043.3(BRIP1):c.576del (p.Thr192_Val193insTer)
|
rs876660769
|
|
NM_032043.3(BRIP1):c.589T>C (p.Ser197Pro)
|
rs530897769
|
|
NM_032043.3(BRIP1):c.58A>T (p.Lys20Ter)
|
|
|
NM_032043.3(BRIP1):c.598G>T (p.Glu200Ter)
|
|
|
NM_032043.3(BRIP1):c.604A>G (p.Ile202Val)
|
rs778275257
|
|
NM_032043.3(BRIP1):c.608del (p.Asn203fs)
|
rs1603361570
|
|
NM_032043.3(BRIP1):c.611_613del (p.Ser204del)
|
rs1060501731
|
|
NM_032043.3(BRIP1):c.612del (p.Ser206fs)
|
|
|
NM_032043.3(BRIP1):c.622C>T (p.Gln208Ter)
|
|
|
NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg)
|
rs748912293
|
|
NM_032043.3(BRIP1):c.627dup (p.Pro210fs)
|
|
|
NM_032043.3(BRIP1):c.628-1G>T
|
|
|
NM_032043.3(BRIP1):c.628-2A>G
|
rs995056553
|
|
NM_032043.3(BRIP1):c.629C>A (p.Pro210His)
|
rs140097800
|
|
NM_032043.3(BRIP1):c.643_644insGTGGCACCCC (p.Ser215fs)
|
|
|
NM_032043.3(BRIP1):c.644_645del (p.Cys214_Ser215insTer)
|
rs2078117088
|
|
NM_032043.3(BRIP1):c.646del (p.Arg216fs)
|
rs1603347042
|
|
NM_032043.3(BRIP1):c.661A>C (p.Thr221Pro)
|
rs777618772
|
|
NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter)
|
rs786201733
|
|
NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter)
|
rs1603368431
|
|
NM_032043.3(BRIP1):c.66C>G (p.Tyr22Ter)
|
rs1603368431
|
|
NM_032043.3(BRIP1):c.671G>C (p.Gly224Ala)
|
rs990737815
|
|
NM_032043.3(BRIP1):c.674dup (p.Asn225fs)
|
|
|
NM_032043.3(BRIP1):c.676dup (p.Ser226fs)
|
|
|
NM_032043.3(BRIP1):c.681del (p.Glu228fs)
|
|
|
NM_032043.3(BRIP1):c.686C>T (p.Ser229Leu)
|
|
|
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)
|
rs1555618716
|
|
NM_032043.3(BRIP1):c.699del (p.Lys234fs)
|
|
|
NM_032043.3(BRIP1):c.700A>G (p.Lys234Glu)
|
rs1060501780
|
|
NM_032043.3(BRIP1):c.700A>T (p.Lys234Ter)
|
|
|
NM_032043.3(BRIP1):c.701A>G (p.Lys234Arg)
|
rs587780834
|
|
NM_032043.3(BRIP1):c.71dup (p.Gln25fs)
|
rs2145864140
|
|
NM_032043.3(BRIP1):c.720del (p.Lys240fs)
|
rs1567838246
|
|
NM_032043.3(BRIP1):c.727dup (p.Ile243fs)
|
|
|
NM_032043.3(BRIP1):c.734A>G (p.Lys245Arg)
|
rs1064795594
|
|
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter)
|
rs1603346857
|
|
NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter)
|
rs2078971612
|
|
NM_032043.3(BRIP1):c.73_93+14del
|
rs2145863122
|
|
NM_032043.3(BRIP1):c.749C>G (p.Thr250Arg)
|
rs1555609275
|
|
NM_032043.3(BRIP1):c.755C>T (p.Thr252Ile)
|
rs1567838124
|
|
NM_032043.3(BRIP1):c.759_760dup (p.Lys254fs)
|
rs2078112240
|
|
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs)
|
rs2078112057
|
|
NM_032043.3(BRIP1):c.765G>C (p.Gln255His)
|
|
|
NM_032043.3(BRIP1):c.770C>T (p.Ala257Val)
|
rs1555609260
|
|
NM_032043.3(BRIP1):c.772C>T (p.Gln258Ter)
|
rs1555609257
|
|
NM_032043.3(BRIP1):c.775dup (p.Ile259fs)
|
|
|
NM_032043.3(BRIP1):c.777del (p.Thr260fs)
|
|
|
NM_032043.3(BRIP1):c.777dup (p.Thr260fs)
|
rs1555609254
|
|
NM_032043.3(BRIP1):c.779del (p.Thr260fs)
|
|
|
NM_032043.3(BRIP1):c.788del (p.Leu263fs)
|
|
|
NM_032043.3(BRIP1):c.78dup (p.Ala27fs)
|
rs1555618709
|
|
NM_032043.3(BRIP1):c.804T>G (p.Tyr268Ter)
|
rs587782514
|
|
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
|
|
|
NM_032043.3(BRIP1):c.807_826del (p.Gly270fs)
|
|
|
NM_032043.3(BRIP1):c.811dup (p.Val271fs)
|
|
|
NM_032043.3(BRIP1):c.815dup (p.Met273fs)
|
|
|
NM_032043.3(BRIP1):c.817dup (p.Met273fs)
|
|
|
NM_032043.3(BRIP1):c.82A>G (p.Met28Val)
|
rs1330147176
|
|
NM_032043.3(BRIP1):c.839A>G (p.Asp280Gly)
|
rs1555609193
|
|
NM_032043.3(BRIP1):c.840del (p.His281fs)
|
rs1555609191
|
|
NM_032043.3(BRIP1):c.842A>G (p.His281Arg)
|
|
|
NM_032043.3(BRIP1):c.844dup (p.Thr282fs)
|
rs2145414039
|
|
NM_032043.3(BRIP1):c.848G>A (p.Cys283Tyr)
|
rs771096783
|
|
NM_032043.3(BRIP1):c.84dup (p.Met29fs)
|
|
|
NM_032043.3(BRIP1):c.850dup (p.Val284fs)
|
|
|
NM_032043.3(BRIP1):c.866del (p.Val289fs)
|
rs864622166
|
|
NM_032043.3(BRIP1):c.871_872del (p.Asn291fs)
|
|
|
NM_032043.3(BRIP1):c.875del (p.Phe292fs)
|
rs2078107930
|
|
NM_032043.3(BRIP1):c.876del (p.Phe292fs)
|
rs1555609162
|
|
NM_032043.3(BRIP1):c.885T>G (p.Asn295Lys)
|
|
|
NM_032043.3(BRIP1):c.888G>C (p.Glu296Asp)
|
rs876658249
|
|
NM_032043.3(BRIP1):c.890A>C (p.Lys297Thr)
|
rs28997570
|
|
NM_032043.3(BRIP1):c.890_891insT (p.Lys297fs)
|
rs878855159
|
|
NM_032043.3(BRIP1):c.890del (p.Lys297fs)
|
rs786202610
|
|
NM_032043.3(BRIP1):c.895A>G (p.Met299Val)
|
rs1242769076
|
|
NM_032043.3(BRIP1):c.8C>A (p.Ser3Ter)
|
rs1603368491
|
|
NM_032043.3(BRIP1):c.903del (p.Leu301fs)
|
rs876659490
|
|
NM_032043.3(BRIP1):c.917dup (p.Asn306fs)
|
rs1555609121
|
|
NM_032043.3(BRIP1):c.918del (p.Asn306fs)
|
rs1555609116
|
|
NM_032043.3(BRIP1):c.929G>A (p.Cys310Tyr)
|
rs1567832184
|
|
NM_032043.3(BRIP1):c.93+1G>A
|
rs587782047
|
|
NM_032043.3(BRIP1):c.93+1G>C
|
|
|
NM_032043.3(BRIP1):c.93+1G>T
|
rs587782047
|
|
NM_032043.3(BRIP1):c.93+2T>C
|
rs775755739
|
|
NM_032043.3(BRIP1):c.93+2del
|
|
|
NM_032043.3(BRIP1):c.93+4A>T
|
|
|
NM_032043.3(BRIP1):c.93+4_93+7del
|
rs1224034842
|
|
NM_032043.3(BRIP1):c.93+5G>A
|
rs730881629
|
|
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs)
|
rs1555607792
|
|
NM_032043.3(BRIP1):c.932del (p.Tyr311fs)
|
rs587778138
|
|
NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)
|
|
|
NM_032043.3(BRIP1):c.939T>G (p.Tyr313Ter)
|
rs1436085018
|
|
NM_032043.3(BRIP1):c.94-1G>A
|
|
|
NM_032043.3(BRIP1):c.942del (p.His314fs)
|
rs2077993152
|
|
NM_032043.3(BRIP1):c.948del (p.His317fs)
|
|
|
NM_032043.3(BRIP1):c.958del (p.Ser320fs)
|
rs864622236
|
|
NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter)
|
rs587778139
|
|
NM_032043.3(BRIP1):c.964del (p.Gln322fs)
|
|
|
NM_032043.3(BRIP1):c.971del (p.Thr324fs)
|
|
|
NM_032043.3(BRIP1):c.983T>C (p.Phe328Ser)
|
rs876659057
|
|
NM_032043.3(BRIP1):c.984_990del (p.Phe328fs)
|
rs2145339188
|
|