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_007194.4(CHEK2):c.252A>G (p.Glu84=)
|
rs1805129
|
0.04009
|
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)
|
rs45532440
|
0.02171
|
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg)
|
rs2228456
|
0.02135
|
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)
|
rs45551636
|
0.01717
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
NM_000465.4(BARD1):c.609A>C (p.Gly203=)
|
rs28997574
|
0.00787
|
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)
|
rs61754118
|
0.00745
|
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)
|
rs3738888
|
0.00736
|
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)
|
rs17886163
|
0.00555
|
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val)
|
rs111536363
|
0.00480
|
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys)
|
rs35306212
|
0.00455
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_024675.4(PALB2):c.1419A>C (p.Pro473=)
|
rs62625275
|
0.00309
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_007194.4(CHEK2):c.593-14C>T
|
rs145754558
|
0.00235
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg)
|
rs34969857
|
0.00218
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=)
|
rs75091137
|
0.00194
|
NM_007194.4(CHEK2):c.1407G>A (p.Val469=)
|
rs17881378
|
0.00190
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00176
|
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=)
|
rs61754141
|
0.00173
|
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn)
|
rs139555085
|
0.00160
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
NM_032043.3(BRIP1):c.2061G>C (p.Val687=)
|
rs112414873
|
0.00153
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
NM_024675.4(PALB2):c.909C>T (p.Leu303=)
|
rs145788619
|
0.00101
|
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_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
NM_007194.4(CHEK2):c.-6G>A
|
rs376995740
|
0.00065
|
NM_024675.4(PALB2):c.2749-18C>T
|
rs182194007
|
0.00055
|
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
|
rs116952709
|
0.00055
|
NM_007194.4(CHEK2):c.793-11G>A
|
rs5997387
|
0.00054
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
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_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=)
|
rs587780890
|
0.00032
|
NM_000465.4(BARD1):c.346C>T (p.His116Tyr)
|
rs144856889
|
0.00029
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)
|
rs200451612
|
0.00027
|
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_000465.4(BARD1):c.668A>G (p.Glu223Gly)
|
rs145009419
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)
|
rs587781722
|
0.00021
|
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu)
|
rs367890377
|
0.00021
|
NM_024675.4(PALB2):c.1281T>C (p.Ala427=)
|
rs138697796
|
0.00021
|
NM_032043.3(BRIP1):c.852C>T (p.Val284=)
|
rs144940449
|
0.00021
|
NM_000465.4(BARD1):c.57G>A (p.Glu19=)
|
rs730881406
|
0.00019
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
0.00019
|
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)
|
rs150313156
|
0.00019
|
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val)
|
rs141458731
|
0.00017
|
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_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)
|
rs373876101
|
0.00016
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_024675.4(PALB2):c.1794G>A (p.Leu598=)
|
rs182494675
|
0.00015
|
NM_007194.4(CHEK2):c.-4C>T
|
rs374938148
|
0.00014
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
NM_024675.4(PALB2):c.2586+10A>G
|
rs373321719
|
0.00014
|
NM_032043.3(BRIP1):c.595C>T (p.Leu199=)
|
rs144969738
|
0.00014
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
NM_024675.4(PALB2):c.232G>A (p.Val78Ile)
|
rs515726085
|
0.00013
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
NM_024675.4(PALB2):c.48+7G>C
|
rs190626072
|
0.00013
|
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)
|
rs202228407
|
0.00013
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His)
|
rs200894063
|
0.00012
|
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)
|
rs201140528
|
0.00011
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)
|
rs377648506
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_000051.4(ATM):c.133C>T (p.Arg45Trp)
|
rs3218684
|
0.00009
|
NM_000465.4(BARD1):c.1059C>G (p.Pro353=)
|
rs368649242
|
0.00009
|
NM_000465.4(BARD1):c.764A>G (p.Asn255Ser)
|
rs138904906
|
0.00009
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)
|
rs587780189
|
0.00009
|
NM_024675.4(PALB2):c.12T>C (p.Pro4=)
|
rs567706422
|
0.00009
|
NM_024675.4(PALB2):c.1431C>T (p.Thr477=)
|
rs515726068
|
0.00009
|
NM_024675.4(PALB2):c.1623G>A (p.Arg541=)
|
rs745665968
|
0.00009
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
NM_024675.4(PALB2):c.344G>T (p.Gly115Val)
|
rs145598272
|
0.00009
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
NM_000051.4(ATM):c.1236-2A>T
|
rs80159221
|
0.00008
|
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)
|
rs376727038
|
0.00008
|
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)
|
rs587781976
|
0.00008
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00008
|
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)
|
rs730881887
|
0.00008
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
rs878855107
|
0.00008
|
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala)
|
rs376619846
|
0.00008
|
NM_000051.4(ATM):c.125A>G (p.His42Arg)
|
rs201773026
|
0.00007
|
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val)
|
rs375130261
|
0.00007
|
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)
|
rs121908706
|
0.00007
|
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu)
|
rs201084748
|
0.00007
|
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser)
|
rs45543843
|
0.00007
|
NM_032043.3(BRIP1):c.1629-11T>C
|
rs375710640
|
0.00007
|
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=)
|
rs369843642
|
0.00007
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)
|
rs377349459
|
0.00006
|
NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp)
|
rs371147849
|
0.00006
|
NM_000465.4(BARD1):c.127C>A (p.Arg43Ser)
|
rs752871324
|
0.00006
|
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)
|
rs753479021
|
0.00006
|
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)
|
rs200359745
|
0.00006
|
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)
|
rs3738885
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys)
|
rs138040612
|
0.00006
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00006
|
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)
|
rs137853010
|
0.00006
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser)
|
rs748636216
|
0.00006
|
NM_007194.4(CHEK2):c.847-17T>C
|
rs199780411
|
0.00006
|
NM_007194.4(CHEK2):c.937G>A (p.Val313Met)
|
rs752302543
|
0.00006
|
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser)
|
rs200048921
|
0.00006
|
NM_024675.4(PALB2):c.1273G>A (p.Val425Met)
|
rs576081828
|
0.00006
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
NM_024675.4(PALB2):c.765T>C (p.Asp255=)
|
rs45465299
|
0.00006
|
NM_024675.4(PALB2):c.768C>T (p.Ser256=)
|
rs45487491
|
0.00006
|
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.413T>C (p.Leu138Ser)
|
rs587780251
|
0.00006
|
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)
|
rs201047375
|
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_000465.4(BARD1):c.841C>T (p.Pro281Ser)
|
rs200059956
|
0.00005
|
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)
|
rs146434474
|
0.00005
|
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu)
|
rs180177125
|
0.00005
|
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp)
|
rs147045425
|
0.00005
|
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu)
|
rs730881894
|
0.00005
|
NM_024675.4(PALB2):c.3412G>A (p.Ala1138Thr)
|
rs577651839
|
0.00005
|
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met)
|
rs587781666
|
0.00005
|
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)
|
rs780619951
|
0.00004
|
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)
|
rs370282831
|
0.00004
|
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter)
|
rs1131691164
|
0.00004
|
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter)
|
rs376603775
|
0.00004
|
NM_000051.4(ATM):c.5763-1050A>G
|
rs774925473
|
0.00004
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)
|
rs3218670
|
0.00004
|
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)
|
rs376824528
|
0.00004
|
NM_000465.4(BARD1):c.1406G>A (p.Cys469Tyr)
|
rs587782040
|
0.00004
|
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)
|
rs587781948
|
0.00004
|
NM_000465.4(BARD1):c.233G>A (p.Cys78Tyr)
|
rs199780731
|
0.00004
|
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)
|
rs142864491
|
0.00004
|
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr)
|
rs146223579
|
0.00004
|
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)
|
rs730881700
|
0.00004
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
NM_007194.4(CHEK2):c.15G>A (p.Ser5=)
|
rs145183886
|
0.00004
|
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)
|
rs141776984
|
0.00004
|
NM_007194.4(CHEK2):c.847-10C>G
|
rs745745105
|
0.00004
|
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys)
|
rs373483056
|
0.00004
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
rs537258442
|
0.00004
|
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)
|
rs377085677
|
0.00004
|
NM_024675.4(PALB2):c.1637T>C (p.Val546Ala)
|
rs148647206
|
0.00004
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
NM_024675.4(PALB2):c.2067G>A (p.Ser689=)
|
rs371149159
|
0.00004
|
NM_024675.4(PALB2):c.2082A>G (p.Thr694=)
|
rs781440401
|
0.00004
|
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)
|
rs376641234
|
0.00004
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys)
|
rs747785029
|
0.00004
|
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn)
|
rs778309339
|
0.00004
|
NM_024675.4(PALB2):c.900A>G (p.Thr300=)
|
rs771660444
|
0.00004
|
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp)
|
rs369631413
|
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.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.415T>G (p.Ser139Ala)
|
rs202072866
|
0.00004
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter)
|
rs758081262
|
0.00003
|
NM_000051.4(ATM):c.2639-384A>G
|
rs1131691154
|
0.00003
|
NM_000051.4(ATM):c.538C>T (p.Gln180Ter)
|
rs730881333
|
0.00003
|
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)
|
rs730881294
|
0.00003
|
NM_000051.4(ATM):c.8596C>G (p.Leu2866Val)
|
rs368666328
|
0.00003
|
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile)
|
rs201032007
|
0.00003
|
NM_000465.4(BARD1):c.1111A>T (p.Lys371Ter)
|
rs1364256214
|
0.00003
|
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter)
|
rs377153250
|
0.00003
|
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)
|
rs587780021
|
0.00003
|
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter)
|
rs879253880
|
0.00003
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly)
|
rs560973106
|
0.00003
|
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)
|
rs587780167
|
0.00003
|
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)
|
rs587780171
|
0.00003
|
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp)
|
rs533475838
|
0.00003
|
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys)
|
rs149501505
|
0.00003
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys)
|
rs148053495
|
0.00003
|
NM_024675.4(PALB2):c.110G>A (p.Arg37His)
|
rs202194596
|
0.00003
|
NM_024675.4(PALB2):c.1128T>G (p.Ser376Arg)
|
rs587780204
|
0.00003
|
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser)
|
rs367578415
|
0.00003
|
NM_024675.4(PALB2):c.1272C>T (p.Ala424=)
|
rs754720030
|
0.00003
|
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)
|
rs587781954
|
0.00003
|
NM_024675.4(PALB2):c.1766C>T (p.Thr589Met)
|
rs773340677
|
0.00003
|
NM_024675.4(PALB2):c.20A>G (p.Lys7Arg)
|
rs947155109
|
0.00003
|
NM_024675.4(PALB2):c.2106A>G (p.Ile702Met)
|
rs730881886
|
0.00003
|
NM_024675.4(PALB2):c.2208C>A (p.Ala736=)
|
rs369113809
|
0.00003
|
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)
|
rs995629797
|
0.00003
|
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)
|
rs587780214
|
0.00003
|
NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile)
|
rs761032954
|
0.00003
|
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)
|
rs138273800
|
0.00003
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
NM_024675.4(PALB2):c.3492G>T (p.Trp1164Cys)
|
rs587782217
|
0.00003
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
NM_024675.4(PALB2):c.950C>T (p.Thr317Ile)
|
rs45548638
|
0.00003
|
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.1972C>T (p.Arg658Trp)
|
rs786203170
|
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.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.312T>G (p.Thr104=)
|
rs769190318
|
0.00003
|
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)
|
rs761405340
|
0.00003
|
NM_032043.3(BRIP1):c.702G>A (p.Lys234=)
|
rs45512798
|
0.00003
|
NM_000051.4(ATM):c.3994-2A>G
|
rs587782276
|
0.00002
|
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)
|
rs375131360
|
0.00002
|
NM_000051.4(ATM):c.67C>T (p.Arg23Ter)
|
rs746235533
|
0.00002
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
NM_000051.4(ATM):c.901+1G>A
|
rs748840480
|
0.00002
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
NM_000465.4(BARD1):c.1108C>T (p.Arg370Cys)
|
rs587781596
|
0.00002
|
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter)
|
rs587782681
|
0.00002
|
NM_000465.4(BARD1):c.1569-13C>G
|
rs587780018
|
0.00002
|
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn)
|
rs370771157
|
0.00002
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
NM_007194.4(CHEK2):c.1459C>T (p.Gln487Ter)
|
rs876659250
|
0.00002
|
NM_007194.4(CHEK2):c.1462-20T>C
|
rs747767986
|
0.00002
|
NM_007194.4(CHEK2):c.1462-7C>G
|
rs730881707
|
0.00002
|
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)
|
rs371657037
|
0.00002
|
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter)
|
rs587782070
|
0.00002
|
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His)
|
rs781254437
|
0.00002
|
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)
|
rs750616657
|
0.00002
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
NM_007194.4(CHEK2):c.793-17T>C
|
rs778511901
|
0.00002
|
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)
|
rs587782347
|
0.00002
|
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln)
|
rs201035780
|
0.00002
|
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly)
|
rs773001248
|
0.00002
|
NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala)
|
rs545119348
|
0.00002
|
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)
|
rs763598472
|
0.00002
|
NM_024675.4(PALB2):c.1839G>A (p.Gln613=)
|
rs199682414
|
0.00002
|
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)
|
rs587781818
|
0.00002
|
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
|
rs587776416
|
0.00002
|
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)
|
rs180177110
|
0.00002
|
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)
|
rs201042302
|
0.00002
|
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu)
|
rs45464991
|
0.00002
|
NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly)
|
rs515726090
|
0.00002
|
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met)
|
rs61756146
|
0.00002
|
NM_024675.4(PALB2):c.304G>A (p.Val102Ile)
|
rs778573607
|
0.00002
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
|
rs587776527
|
0.00002
|
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)
|
rs180177135
|
0.00002
|
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro)
|
rs515726116
|
0.00002
|
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)
|
rs878855122
|
0.00002
|
NM_024675.4(PALB2):c.807T>C (p.Gly269=)
|
rs180177093
|
0.00002
|
NM_024675.4(PALB2):c.897T>C (p.Ser299=)
|
rs180177095
|
0.00002
|
NM_024675.4(PALB2):c.995T>A (p.Leu332His)
|
rs377149139
|
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.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00002
|
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln)
|
rs587780248
|
0.00002
|
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser)
|
rs730881623
|
0.00002
|
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu)
|
rs565458815
|
0.00002
|
NM_032043.3(BRIP1):c.633del (p.Gly212fs)
|
rs779466229
|
0.00002
|
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met)
|
rs550031006
|
0.00002
|
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs)
|
rs886041340
|
0.00001
|
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter)
|
rs747563556
|
0.00001
|
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter)
|
rs587779813
|
0.00001
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)
|
rs749036865
|
0.00001
|
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter)
|
rs876660485
|
0.00001
|
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)
|
rs1555070980
|
0.00001
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)
|
rs879254093
|
0.00001
|
NM_000051.4(ATM):c.1547T>G (p.Leu516Ter)
|
rs786202195
|
0.00001
|
NM_000051.4(ATM):c.1607+1G>T
|
rs772926890
|
0.00001
|
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)
|
rs587779818
|
0.00001
|
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs)
|
rs1060501610
|
0.00001
|
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)
|
rs777849257
|
0.00001
|
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)
|
rs765965513
|
0.00001
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
NM_000051.4(ATM):c.2467-2A>C
|
rs1555082050
|
0.00001
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
NM_000051.4(ATM):c.3078-1G>A
|
rs750663117
|
0.00001
|
NM_000051.4(ATM):c.3154-2A>G
|
rs730881357
|
0.00001
|
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)
|
rs1060501687
|
0.00001
|
NM_000051.4(ATM):c.332-1G>A
|
rs747855862
|
0.00001
|
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)
|
rs587779833
|
0.00001
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)
|
rs864622490
|
0.00001
|
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)
|
rs730881389
|
0.00001
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)
|
rs1057520640
|
0.00001
|
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter)
|
rs587781950
|
0.00001
|
NM_000051.4(ATM):c.4437-1G>C
|
rs759520465
|
0.00001
|
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)
|
rs762083530
|
0.00001
|
NM_000051.4(ATM):c.4909+1G>A
|
rs756987454
|
0.00001
|
NM_000051.4(ATM):c.497-1G>A
|
rs778624615
|
0.00001
|
NM_000051.4(ATM):c.5005+1G>T
|
rs1057517427
|
0.00001
|
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)
|
rs764389018
|
0.00001
|
NM_000051.4(ATM):c.5203dup (p.Thr1735fs)
|
rs878853518
|
0.00001
|
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)
|
rs587779844
|
0.00001
|
NM_000051.4(ATM):c.5290del (p.Leu1764fs)
|
rs587779846
|
0.00001
|
NM_000051.4(ATM):c.5293C>T (p.Gln1765Ter)
|
rs2083444895
|
0.00001
|
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs)
|
rs1214541502
|
0.00001
|
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)
|
rs758908522
|
0.00001
|
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)
|
rs786204433
|
0.00001
|
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)
|
rs775036118
|
0.00001
|
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)
|
rs876658740
|
0.00001
|
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)
|
rs730881394
|
0.00001
|
NM_000051.4(ATM):c.6095+1G>A
|
rs587781584
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000051.4(ATM):c.6347+1G>A
|
rs1057517120
|
0.00001
|
NM_000051.4(ATM):c.6573-2A>G
|
rs751168951
|
0.00001
|
NM_000051.4(ATM):c.6629del (p.Gln2210fs)
|
rs2085556498
|
0.00001
|
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter)
|
rs1060501536
|
0.00001
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
NM_000051.4(ATM):c.6807G>A (p.Gln2269=)
|
rs587780638
|
0.00001
|
NM_000051.4(ATM):c.6839del (p.Gln2280fs)
|
rs1407907917
|
0.00001
|
NM_000051.4(ATM):c.6997dup
|
rs587781299
|
0.00001
|
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter)
|
rs1131691162
|
0.00001
|
NM_000051.4(ATM):c.72+1G>A
|
rs786204088
|
0.00001
|
NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu)
|
rs1324075885
|
0.00001
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter)
|
rs773516672
|
0.00001
|
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)
|
rs587779865
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)
|
rs371638537
|
0.00001
|
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser)
|
rs748634900
|
0.00001
|
NM_000051.4(ATM):c.829G>T (p.Glu277Ter)
|
rs876660933
|
0.00001
|
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)
|
rs778269655
|
0.00001
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter)
|
rs587781597
|
0.00001
|
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)
|
rs587778080
|
0.00001
|
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)
|
rs876658716
|
0.00001
|
NM_000051.4(ATM):c.8615_8616del (p.His2872fs)
|
rs1232259438
|
0.00001
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
NM_000051.4(ATM):c.8786+1G>T
|
rs17174393
|
0.00001
|
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs)
|
rs758814126
|
0.00001
|
NM_000051.4(ATM):c.8988-1G>C
|
rs730881386
|
0.00001
|
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)
|
rs587781698
|
0.00001
|
NM_000051.4(ATM):c.902-1G>T
|
rs1064793518
|
0.00001
|
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)
|
rs121434219
|
0.00001
|
NM_000051.4(ATM):c.943_944del (p.Leu315fs)
|
rs768024233
|
0.00001
|
NM_000051.4(ATM):c.967A>G (p.Ile323Val)
|
rs587781511
|
0.00001
|
NM_000465.4(BARD1):c.1172C>A (p.Ser391Ter)
|
rs878853995
|
0.00001
|
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter)
|
rs796666047
|
0.00001
|
NM_000465.4(BARD1):c.1205C>G (p.Ser402Ter)
|
rs796666047
|
0.00001
|
NM_000465.4(BARD1):c.1300A>T (p.Ile434Phe)
|
rs758049210
|
0.00001
|
NM_000465.4(BARD1):c.1338C>A (p.Tyr446Ter)
|
rs761702998
|
0.00001
|
NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala)
|
rs730881408
|
0.00001
|
NM_000465.4(BARD1):c.1385G>A (p.Trp462Ter)
|
rs1213894295
|
0.00001
|
NM_000465.4(BARD1):c.1448A>G (p.His483Arg)
|
rs587781874
|
0.00001
|
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)
|
rs587781707
|
0.00001
|
NM_000465.4(BARD1):c.1678-1G>T
|
rs767208318
|
0.00001
|
NM_000465.4(BARD1):c.16C>T (p.Gln6Ter)
|
rs876658234
|
0.00001
|
NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr)
|
rs587780022
|
0.00001
|
NM_000465.4(BARD1):c.1817_1818del (p.His606fs)
|
rs587782897
|
0.00001
|
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val)
|
rs150121935
|
0.00001
|
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter)
|
rs758972589
|
0.00001
|
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter)
|
rs730881411
|
0.00001
|
NM_000465.4(BARD1):c.545T>G (p.Phe182Cys)
|
rs878854014
|
0.00001
|
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys)
|
rs587780032
|
0.00001
|
NM_000465.4(BARD1):c.684A>G (p.Glu228=)
|
rs780627045
|
0.00001
|
NM_000465.4(BARD1):c.944C>T (p.Pro315Leu)
|
rs148760338
|
0.00001
|
NM_000465.4(BARD1):c.95G>T (p.Gly32Val)
|
rs587782675
|
0.00001
|
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter)
|
rs760502479
|
0.00001
|
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His)
|
rs730881688
|
0.00001
|
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn)
|
rs28909980
|
0.00001
|
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu)
|
rs121908703
|
0.00001
|
NM_007194.4(CHEK2):c.1096-4T>C
|
rs587782840
|
0.00001
|
NM_007194.4(CHEK2):c.1153T>C (p.Cys385Arg)
|
rs587782817
|
0.00001
|
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala)
|
rs121908704
|
0.00001
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
0.00001
|
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn)
|
rs549755590
|
0.00001
|
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)
|
rs758102180
|
0.00001
|
NM_007194.4(CHEK2):c.1317G>T (p.Gln439His)
|
rs878854915
|
0.00001
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
NM_007194.4(CHEK2):c.1462-1G>A
|
rs1060502698
|
0.00001
|
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter)
|
rs756250205
|
0.00001
|
NM_007194.4(CHEK2):c.1489del (p.Asp497fs)
|
rs774175654
|
0.00001
|
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)
|
rs17883172
|
0.00001
|
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)
|
rs17882942
|
0.00001
|
NM_007194.4(CHEK2):c.1542+6C>T
|
rs1414780425
|
0.00001
|
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=)
|
rs786201796
|
0.00001
|
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys)
|
rs587781710
|
0.00001
|
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe)
|
rs730881695
|
0.00001
|
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)
|
rs1555932341
|
0.00001
|
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter)
|
rs1064793817
|
0.00001
|
NM_007194.4(CHEK2):c.319+1G>A
|
rs765080766
|
0.00001
|
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser)
|
rs876660788
|
0.00001
|
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter)
|
rs756949505
|
0.00001
|
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln)
|
rs587781667
|
0.00001
|
NM_007194.4(CHEK2):c.444+3A>G
|
rs587781279
|
0.00001
|
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg)
|
rs72552323
|
0.00001
|
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)
|
rs72552322
|
0.00001
|
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile)
|
rs730881684
|
0.00001
|
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe)
|
rs745646057
|
0.00001
|
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser)
|
rs369223840
|
0.00001
|
NM_007194.4(CHEK2):c.573G>C (p.Leu191=)
|
rs786201267
|
0.00001
|
NM_007194.4(CHEK2):c.577_578del (p.Leu193fs)
|
rs775167943
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007194.4(CHEK2):c.592+4A>G
|
rs375905418
|
0.00001
|
NM_007194.4(CHEK2):c.593-9C>T
|
rs1057517597
|
0.00001
|
NM_007194.4(CHEK2):c.622del (p.Asp208fs)
|
rs773955899
|
0.00001
|
NM_007194.4(CHEK2):c.665T>C (p.Met222Thr)
|
rs775134484
|
0.00001
|
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala)
|
rs587780188
|
0.00001
|
NM_007194.4(CHEK2):c.792+2T>C
|
rs545982789
|
0.00001
|
NM_007194.4(CHEK2):c.846+1G>C
|
rs864622149
|
0.00001
|
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr)
|
rs876658150
|
0.00001
|
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)
|
rs761494650
|
0.00001
|
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys)
|
rs587782460
|
0.00001
|
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu)
|
rs587782416
|
0.00001
|
NM_007194.4(CHEK2):c.974A>T (p.Lys325Met)
|
rs767656411
|
0.00001
|
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly)
|
rs876659751
|
0.00001
|
NM_024675.4(PALB2):c.108+1G>A
|
rs1060499814
|
0.00001
|
NM_024675.4(PALB2):c.10C>T (p.Pro4Ser)
|
rs587782483
|
0.00001
|
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile)
|
rs373298267
|
0.00001
|
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)
|
rs1257545151
|
0.00001
|
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)
|
rs515726063
|
0.00001
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
NM_024675.4(PALB2):c.1241G>A (p.Arg414Gln)
|
rs749461008
|
0.00001
|
NM_024675.4(PALB2):c.1258C>T (p.Gln420Ter)
|
rs587782446
|
0.00001
|
NM_024675.4(PALB2):c.127A>G (p.Lys43Glu)
|
rs765125459
|
0.00001
|
NM_024675.4(PALB2):c.1311A>G (p.Lys437=)
|
rs190489275
|
0.00001
|
NM_024675.4(PALB2):c.1348A>C (p.Asn450His)
|
rs62625274
|
0.00001
|
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser)
|
rs587781824
|
0.00001
|
NM_024675.4(PALB2):c.156del (p.Glu53fs)
|
rs587776406
|
0.00001
|
NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs)
|
rs786203346
|
0.00001
|
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)
|
rs180177103
|
0.00001
|
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)
|
rs118203997
|
0.00001
|
NM_024675.4(PALB2):c.1662A>G (p.Glu554=)
|
rs786202692
|
0.00001
|
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter)
|
rs1555461154
|
0.00001
|
NM_024675.4(PALB2):c.1685-14T>A
|
rs780772404
|
0.00001
|
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)
|
rs746582620
|
0.00001
|
NM_024675.4(PALB2):c.1715C>T (p.Ser572Phe)
|
rs757397623
|
0.00001
|
NM_024675.4(PALB2):c.1886C>T (p.Ser629Phe)
|
rs1169756751
|
0.00001
|
NM_024675.4(PALB2):c.195G>A (p.Pro65=)
|
rs751176316
|
0.00001
|
NM_024675.4(PALB2):c.1960A>G (p.Ile654Val)
|
rs749842477
|
0.00001
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
0.00001
|
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)
|
rs62625277
|
0.00001
|
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)
|
rs755263466
|
0.00001
|
NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn)
|
rs730881885
|
0.00001
|
NM_024675.4(PALB2):c.2108T>G (p.Leu703Ter)
|
rs752592662
|
0.00001
|
NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro)
|
rs765942523
|
0.00001
|
NM_024675.4(PALB2):c.2140G>A (p.Asp714Asn)
|
rs45537237
|
0.00001
|
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)
|
rs587778586
|
0.00001
|
NM_024675.4(PALB2):c.229del (p.Cys77fs)
|
rs180177084
|
0.00001
|
NM_024675.4(PALB2):c.2311A>G (p.Ser771Gly)
|
rs786202846
|
0.00001
|
NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn)
|
rs148026749
|
0.00001
|
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)
|
rs764509489
|
0.00001
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
rs180177112
|
0.00001
|
NM_024675.4(PALB2):c.2401G>A (p.Asp801Asn)
|
rs587782765
|
0.00001
|
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)
|
rs763191051
|
0.00001
|
NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser)
|
rs370908330
|
0.00001
|
NM_024675.4(PALB2):c.2456A>G (p.Lys819Arg)
|
rs587778585
|
0.00001
|
NM_024675.4(PALB2):c.2478C>T (p.Asn826=)
|
rs786201885
|
0.00001
|
NM_024675.4(PALB2):c.2508C>G (p.Val836=)
|
rs786203603
|
0.00001
|
NM_024675.4(PALB2):c.2559C>T (p.Gly853=)
|
rs180177115
|
0.00001
|
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)
|
rs587782387
|
0.00001
|
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr)
|
rs878855111
|
0.00001
|
NM_024675.4(PALB2):c.2859T>C (p.Asp953=)
|
rs515726101
|
0.00001
|
NM_024675.4(PALB2):c.2888del (p.Ser963fs)
|
rs587776420
|
0.00001
|
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn)
|
rs730881892
|
0.00001
|
NM_024675.4(PALB2):c.2965G>A (p.Val989Ile)
|
rs764140747
|
0.00001
|
NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile)
|
rs367840862
|
0.00001
|
NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg)
|
rs143808171
|
0.00001
|
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val)
|
rs863224783
|
0.00001
|
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu)
|
rs756906403
|
0.00001
|
NM_024675.4(PALB2):c.3113+5G>C
|
rs876659463
|
0.00001
|
NM_024675.4(PALB2):c.3114-20A>G
|
rs770731003
|
0.00001
|
NM_024675.4(PALB2):c.3201+1G>T
|
rs587776423
|
0.00001
|
NM_024675.4(PALB2):c.3282G>A (p.Val1094=)
|
rs747861082
|
0.00001
|
NM_024675.4(PALB2):c.3310G>A (p.Gly1104Ser)
|
rs188254555
|
0.00001
|
NM_024675.4(PALB2):c.3350+5G>A
|
rs587782566
|
0.00001
|
NM_024675.4(PALB2):c.3351-10A>G
|
rs1057517611
|
0.00001
|
NM_024675.4(PALB2):c.3366C>T (p.Asp1122=)
|
rs373783514
|
0.00001
|
NM_024675.4(PALB2):c.3373G>T (p.Asp1125Tyr)
|
rs146444298
|
0.00001
|
NM_024675.4(PALB2):c.3449T>G (p.Leu1150Arg)
|
rs45566737
|
0.00001
|
NM_024675.4(PALB2):c.3483T>C (p.Phe1161=)
|
rs372686500
|
0.00001
|
NM_024675.4(PALB2):c.3518C>T (p.Ala1173Val)
|
rs146659762
|
0.00001
|
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)
|
rs370404126
|
0.00001
|
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys)
|
rs373287455
|
0.00001
|
NM_024675.4(PALB2):c.395del (p.Val132fs)
|
rs180177085
|
0.00001
|
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)
|
rs587782005
|
0.00001
|
NM_024675.4(PALB2):c.438A>C (p.Arg146Ser)
|
rs587781498
|
0.00001
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
rs200937538
|
0.00001
|
NM_024675.4(PALB2):c.587G>A (p.Arg196Lys)
|
rs730881904
|
0.00001
|
NM_024675.4(PALB2):c.62T>G (p.Leu21Ter)
|
rs769240800
|
0.00001
|
NM_024675.4(PALB2):c.660T>C (p.Ser220=)
|
rs571762192
|
0.00001
|
NM_024675.4(PALB2):c.682C>T (p.Gln228Ter)
|
rs1327399690
|
0.00001
|
NM_024675.4(PALB2):c.734C>T (p.Ala245Val)
|
rs571063157
|
0.00001
|
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter)
|
rs180177091
|
0.00001
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
NM_024675.4(PALB2):c.813T>A (p.Ser271Arg)
|
rs786203246
|
0.00001
|
NM_024675.4(PALB2):c.824C>T (p.Thr275Ile)
|
rs786202499
|
0.00001
|
NM_024675.4(PALB2):c.841A>T (p.Ile281Phe)
|
rs751882053
|
0.00001
|
NM_024675.4(PALB2):c.84C>T (p.Tyr28=)
|
rs761533286
|
0.00001
|
NM_024675.4(PALB2):c.856C>T (p.Pro286Ser)
|
rs45585833
|
0.00001
|
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)
|
rs528541334
|
0.00001
|
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly)
|
rs45561331
|
0.00001
|
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)
|
rs786203821
|
0.00001
|
NM_024675.4(PALB2):c.968C>A (p.Ala323Glu)
|
rs730881882
|
0.00001
|
NM_024675.4(PALB2):c.993A>G (p.Glu331=)
|
rs760362870
|
0.00001
|
NM_032043.2(BRIP1):c.2097+8A>C
|
rs730881642
|
0.00001
|
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)
|
rs730881633
|
0.00001
|
NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser)
|
rs777511615
|
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.1240C>T (p.Gln414Ter)
|
rs368796923
|
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.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=)
|
rs773489367
|
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.1594dup (p.Met532fs)
|
rs1339743866
|
0.00001
|
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu)
|
rs754414731
|
0.00001
|
NM_032043.3(BRIP1):c.1684A>G (p.Ile562Val)
|
rs45533636
|
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.2071A>C (p.Ile691Leu)
|
rs587782356
|
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.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.2441G>A (p.Arg814His)
|
rs45468199
|
0.00001
|
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)
|
rs1483527885
|
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.2579T>C (p.Leu860Pro)
|
rs587780242
|
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.2800T>G (p.Phe934Val)
|
rs863224801
|
0.00001
|
NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr)
|
rs786201632
|
0.00001
|
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile)
|
rs786203224
|
0.00001
|
NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn)
|
rs587781417
|
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.3149C>A (p.Thr1050Asn)
|
rs373040333
|
0.00001
|
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr)
|
rs150813402
|
0.00001
|
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)
|
rs587780830
|
0.00001
|
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)
|
rs45603843
|
0.00001
|
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)
|
rs747604569
|
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.787C>T (p.Leu263Phe)
|
rs1060501776
|
0.00001
|
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val)
|
rs587781425
|
0.00001
|
NC_000011.10:g.108227776_108227782del
|
|
|
NC_000011.10:g.108293313del
|
|
|
NC_000011.10:g.108304675del
|
|
|
NM_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
NM_000051.4(ATM):c.1000_1001insA (p.Ser334fs)
|
|
|
NM_000051.4(ATM):c.1001C>G (p.Ser334Ter)
|
|
|
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter)
|
rs1555068471
|
|
NM_000051.4(ATM):c.1012_1014delinsCTTCAGG (p.Asn338fs)
|
|
|
NM_000051.4(ATM):c.1017del (p.Ile339fs)
|
rs1469427343
|
|
NM_000051.4(ATM):c.1027G>T (p.Glu343Ter)
|
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
NM_000051.4(ATM):c.1037_1040del (p.Ile346fs)
|
rs2135268548
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
NM_000051.4(ATM):c.1045_1052del (p.Met349fs)
|
rs1565375817
|
|
NM_000051.4(ATM):c.1053dup (p.Ile352fs)
|
rs587781984
|
|
NM_000051.4(ATM):c.1061dup (p.His354fs)
|
|
|
NM_000051.4(ATM):c.1062_1063delinsTT (p.Gln355Ter)
|
|
|
NM_000051.4(ATM):c.1062_1065+5del
|
|
|
NM_000051.4(ATM):c.1063C>T (p.Gln355Ter)
|
rs1555068615
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
NM_000051.4(ATM):c.1066-1G>A
|
rs876660038
|
|
NM_000051.4(ATM):c.1066-2A>G
|
|
|
NM_000051.4(ATM):c.1066-2A>T
|
rs1555069514
|
|
NM_000051.4(ATM):c.1066-3_1072del
|
rs1591517089
|
|
NM_000051.4(ATM):c.1073del (p.Asn358fs)
|
|
|
NM_000051.4(ATM):c.1073dup (p.Asn358fs)
|
rs1591517182
|
|
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
|
|
|
NM_000051.4(ATM):c.1078del (p.Asp360fs)
|
rs2135290302
|
|
NM_000051.4(ATM):c.1102C>T (p.Gln368Ter)
|
|
|
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)
|
rs1555069617
|
|
NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter)
|
rs376170600
|
|
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter)
|
rs376170600
|
|
NM_000051.4(ATM):c.1110del (p.Ser369_Tyr370insTer)
|
rs1591517456
|
|
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)
|
rs1185204988
|
|
NM_000051.4(ATM):c.1120del (p.Gln374fs)
|
rs2135292079
|
|
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs)
|
rs1591517571
|
|
NM_000051.4(ATM):c.1124del (p.Arg375fs)
|
rs1555069653
|
|
NM_000051.4(ATM):c.1126_1127del (p.Glu376fs)
|
rs1064795624
|
|
NM_000051.4(ATM):c.1128dup (p.Ser377fs)
|
|
|
NM_000051.4(ATM):c.1140_1141del (p.Tyr380_Ser381delinsTer)
|
rs1555069677
|
|
NM_000051.4(ATM):c.1152C>A (p.Cys384Ter)
|
|
|
NM_000051.4(ATM):c.1158del (p.Lys387fs)
|
rs587782085
|
|
NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)
|
|
|
NM_000051.4(ATM):c.1168G>T (p.Glu390Ter)
|
rs876660106
|
|
NM_000051.4(ATM):c.1171del (p.Glu390_Leu391insTer)
|
|
|
NM_000051.4(ATM):c.1178G>A (p.Trp393Ter)
|
rs1025339570
|
|
NM_000051.4(ATM):c.1179G>A (p.Trp393Ter)
|
rs876658567
|
|
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)
|
rs876659450
|
|
NM_000051.4(ATM):c.1190_1191del (p.Lys397fs)
|
rs2079998938
|
|
NM_000051.4(ATM):c.1201C>T (p.Gln401Ter)
|
|
|
NM_000051.4(ATM):c.1204A>T (p.Lys402Ter)
|
|
|
NM_000051.4(ATM):c.1209_1228delinsTTC (p.Gln404fs)
|
|
|
NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer)
|
rs1060501609
|
|
NM_000051.4(ATM):c.1215del (p.Asn405fs)
|
rs1555069815
|
|
NM_000051.4(ATM):c.1235+1G>A
|
rs1555069881
|
|
NM_000051.4(ATM):c.1236-2A>G
|
rs80159221
|
|
NM_000051.4(ATM):c.1236-2del
|
rs1565381646
|
|
NM_000051.4(ATM):c.1236-3_1236-2del
|
rs587782572
|
|
NM_000051.4(ATM):c.1236G>A (p.Trp412Ter)
|
|
|
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter)
|
rs866521873
|
|
NM_000051.4(ATM):c.1249del (p.Thr417fs)
|
rs786203166
|
|
NM_000051.4(ATM):c.1252C>T (p.Gln418Ter)
|
|
|
NM_000051.4(ATM):c.1262C>G (p.Ser421Ter)
|
rs2135316531
|
|
NM_000051.4(ATM):c.1264A>T (p.Lys422Ter)
|
rs1555070678
|
|
NM_000051.4(ATM):c.1285_1288del (p.Asn429fs)
|
rs1555070694
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
NM_000051.4(ATM):c.1305del (p.Leu435fs)
|
rs1555070719
|
|
NM_000051.4(ATM):c.1321C>T (p.Gln441Ter)
|
rs1565382267
|
|
NM_000051.4(ATM):c.1329del (p.Gln445fs)
|
rs587782844
|
|
NM_000051.4(ATM):c.1333C>T (p.Gln445Ter)
|
rs2080097197
|
|
NM_000051.4(ATM):c.1333del (p.Gln445fs)
|
rs1060501701
|
|
NM_000051.4(ATM):c.1336C>T (p.Gln446Ter)
|
rs587782121
|
|
NM_000051.4(ATM):c.1348del (p.Glu450fs)
|
rs758004668
|
|
NM_000051.4(ATM):c.1355del (p.Thr452fs)
|
rs587781776
|
|
NM_000051.4(ATM):c.1361_1362del (p.Tyr454fs)
|
|
|
NM_000051.4(ATM):c.1367del (p.Leu456fs)
|
rs1555070832
|
|
NM_000051.4(ATM):c.1368dup (p.Arg457fs)
|
rs1565382593
|
|
NM_000051.4(ATM):c.1374C>A (p.Cys458Ter)
|
|
|
NM_000051.4(ATM):c.1378dup (p.Thr460fs)
|
rs2080101851
|
|
NM_000051.4(ATM):c.138_141del (p.His46fs)
|
rs786203370
|
|
NM_000051.4(ATM):c.1391_1395del (p.Leu464fs)
|
rs2080103035
|
|
NM_000051.4(ATM):c.140C>G (p.Ser47Ter)
|
rs774185390
|
|
NM_000051.4(ATM):c.1426C>T (p.Gln476Ter)
|
|
|
NM_000051.4(ATM):c.1433C>A (p.Ser478Ter)
|
rs2080106350
|
|
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs)
|
rs1555070947
|
|
NM_000051.4(ATM):c.1439del (p.Leu480fs)
|
|
|
NM_000051.4(ATM):c.1446del (p.Lys482fs)
|
rs1060501670
|
|
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)
|
rs377597949
|
|
NM_000051.4(ATM):c.1464del (p.Trp488fs)
|
rs1555070994
|
|
NM_000051.4(ATM):c.1467dup (p.Ile490fs)
|
rs1555071002
|
|
NM_000051.4(ATM):c.1479del (p.Gly494fs)
|
|
|
NM_000051.4(ATM):c.1486_1487insCA (p.Ser496fs)
|
|
|
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter)
|
rs1555071075
|
|
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter)
|
rs1281817400
|
|
NM_000051.4(ATM):c.151C>T (p.Gln51Ter)
|
rs786203888
|
|
NM_000051.4(ATM):c.1524del (p.Gly509fs)
|
rs786204737
|
|
NM_000051.4(ATM):c.1537C>T (p.Gln513Ter)
|
rs865985297
|
|
NM_000051.4(ATM):c.1547T>A (p.Leu516Ter)
|
rs786202195
|
|
NM_000051.4(ATM):c.154G>T (p.Gly52Ter)
|
rs730881362
|
|
NM_000051.4(ATM):c.1552G>T (p.Glu518Ter)
|
|
|
NM_000051.4(ATM):c.1564G>T (p.Glu522Ter)
|
rs2080118610
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.1572G>A (p.Trp524Ter)
|
|
|
NM_000051.4(ATM):c.1573A>T (p.Lys525Ter)
|
rs1565383766
|
|
NM_000051.4(ATM):c.1573_1586del (p.Lys525fs)
|
|
|
NM_000051.4(ATM):c.157A>T (p.Lys53Ter)
|
rs876659078
|
|
NM_000051.4(ATM):c.1589C>G (p.Ser530Ter)
|
|
|
NM_000051.4(ATM):c.1597_1600dup (p.Pro534fs)
|
rs1131691166
|
|
NM_000051.4(ATM):c.15del (p.Asn6fs)
|
|
|
NM_000051.4(ATM):c.15dup (p.Asn6Ter)
|
rs876660842
|
|
NM_000051.4(ATM):c.1607+1G>A
|
rs772926890
|
|
NM_000051.4(ATM):c.1607+2T>A
|
|
|
NM_000051.4(ATM):c.160del (p.Tyr54fs)
|
|
|
NM_000051.4(ATM):c.1621dup (p.Cys541fs)
|
|
|
NM_000051.4(ATM):c.1625del (p.Cys541_Leu542insTer)
|
rs2080164484
|
|
NM_000051.4(ATM):c.1653del (p.Pro552fs)
|
rs2080167483
|
|
NM_000051.4(ATM):c.1658del (p.Gly553fs)
|
rs1064796556
|
|
NM_000051.4(ATM):c.1660del (p.Thr554fs)
|
rs876658572
|
|
NM_000051.4(ATM):c.1688_1695del (p.Met563fs)
|
|
|
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter)
|
rs886039644
|
|
NM_000051.4(ATM):c.1718del (p.Lys573fs)
|
|
|
NM_000051.4(ATM):c.1736G>A (p.Trp579Ter)
|
|
|
NM_000051.4(ATM):c.1737G>A (p.Trp579Ter)
|
rs786201689
|
|
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs)
|
rs1057516721
|
|
NM_000051.4(ATM):c.1745_1749del (p.Phe582fs)
|
rs1565385883
|
|
NM_000051.4(ATM):c.1749_1750delinsAT (p.Tyr583_Gln584delinsTer)
|
rs1064796083
|
|
NM_000051.4(ATM):c.1750C>T (p.Gln584Ter)
|
rs2080176523
|
|
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs)
|
rs1555072008
|
|
NM_000051.4(ATM):c.1757del (p.Glu586fs)
|
|
|
NM_000051.4(ATM):c.1762del (p.Asp588fs)
|
rs2135343498
|
|
NM_000051.4(ATM):c.1766T>A (p.Leu589Ter)
|
|
|
NM_000051.4(ATM):c.1772dup (p.Asn591fs)
|
rs1591528248
|
|
NM_000051.4(ATM):c.1790dup (p.Ile598fs)
|
|
|
NM_000051.4(ATM):c.1803-1G>C
|
|
|
NM_000051.4(ATM):c.1803-1G>T
|
|
|
NM_000051.4(ATM):c.1803-2A>G
|
rs1057517358
|
|
NM_000051.4(ATM):c.1809del (p.Pro604fs)
|
|
|
NM_000051.4(ATM):c.1838dup (p.Ser614fs)
|
rs1555072492
|
|
NM_000051.4(ATM):c.185+1G>A
|
rs112805604
|
|
NM_000051.4(ATM):c.185+1del
|
rs2078826294
|
|
NM_000051.4(ATM):c.1858del (p.Cys620fs)
|
rs1565387848
|
|
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer)
|
rs2080230745
|
|
NM_000051.4(ATM):c.186-1_197del
|
|
|
NM_000051.4(ATM):c.1880del (p.Phe627fs)
|
|
|
NM_000051.4(ATM):c.1880dup (p.Gln628fs)
|
rs786202474
|
|
NM_000051.4(ATM):c.1882del (p.Gln628fs)
|
|
|
NM_000051.4(ATM):c.1888del (p.Val630fs)
|
|
|
NM_000051.4(ATM):c.1894G>T (p.Glu632Ter)
|
|
|
NM_000051.4(ATM):c.1898+1G>A
|
rs758325274
|
|
NM_000051.4(ATM):c.1898+1G>T
|
rs758325274
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
NM_000051.4(ATM):c.1899-1G>A
|
rs1555073065
|
|
NM_000051.4(ATM):c.1899-2A>C
|
|
|
NM_000051.4(ATM):c.1903del (p.His635fs)
|
|
|
NM_000051.4(ATM):c.1914_1916delinsGG (p.Asp639fs)
|
|
|
NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer)
|
rs864622415
|
|
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter)
|
rs879254190
|
|
NM_000051.4(ATM):c.1919_1921delinsT (p.Lys640fs)
|
|
|
NM_000051.4(ATM):c.191del (p.Leu64fs)
|
|
|
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs)
|
rs1555073111
|
|
NM_000051.4(ATM):c.1920del (p.Glu641fs)
|
|
|
NM_000051.4(ATM):c.1924delinsCT (p.Glu642fs)
|
|
|
NM_000051.4(ATM):c.192del (p.Leu64fs)
|
rs878853490
|
|
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)
|
rs768362387
|
|
NM_000051.4(ATM):c.1935del (p.Ser646fs)
|
|
|
NM_000051.4(ATM):c.1939G>T (p.Glu647Ter)
|
rs1060501599
|
|
NM_000051.4(ATM):c.193C>T (p.Gln65Ter)
|
rs775248597
|
|
NM_000051.4(ATM):c.1956del (p.Leu653fs)
|
|
|
NM_000051.4(ATM):c.1978del (p.Met660fs)
|
|
|
NM_000051.4(ATM):c.1988del (p.Phe662_Leu663insTer)
|
|
|
NM_000051.4(ATM):c.1992del (p.Ile665fs)
|
|
|
NM_000051.4(ATM):c.1993_1994del (p.Ile665fs)
|
|
|
NM_000051.4(ATM):c.1998_2004del (p.Arg667fs)
|
|
|
NM_000051.4(ATM):c.1A>C (p.Met1Leu)
|
rs730881359
|
|
NM_000051.4(ATM):c.1A>G (p.Met1Val)
|
rs730881359
|
|
NM_000051.4(ATM):c.1A>T (p.Met1Leu)
|
|
|
NM_000051.4(ATM):c.2036_2038delinsTCCACCAGAA (p.Gly679fs)
|
|
|
NM_000051.4(ATM):c.2044_2045del (p.Val682fs)
|
|
|
NM_000051.4(ATM):c.2062G>T (p.Glu688Ter)
|
rs769338089
|
|
NM_000051.4(ATM):c.2066C>G (p.Ser689Ter)
|
|
|
NM_000051.4(ATM):c.2082del (p.Leu695fs)
|
|
|
NM_000051.4(ATM):c.2090T>G (p.Leu697Ter)
|
rs1591534936
|
|
NM_000051.4(ATM):c.2091del (p.Leu697fs)
|
|
|
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter)
|
rs786202743
|
|
NM_000051.4(ATM):c.2101del (p.Leu701fs)
|
|
|
NM_000051.4(ATM):c.2113del (p.Tyr705fs)
|
rs863224822
|
|
NM_000051.4(ATM):c.2114dup (p.Tyr705Ter)
|
rs2080317430
|
|
NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter)
|
rs876659149
|
|
NM_000051.4(ATM):c.2117C>A (p.Ser706Ter)
|
|
|
NM_000051.4(ATM):c.2117C>G (p.Ser706Ter)
|
|
|
NM_000051.4(ATM):c.2124+1G>A
|
rs1555073553
|
|
NM_000051.4(ATM):c.2124+1G>T
|
rs1555073553
|
|
NM_000051.4(ATM):c.2124+1del
|
rs2080318979
|
|
NM_000051.4(ATM):c.2125-16_2128delinsCAAATTTATATT
|
|
|
NM_000051.4(ATM):c.2125-2A>C
|
rs1565394403
|
|
NM_000051.4(ATM):c.2135C>A (p.Ser712Ter)
|
|
|
NM_000051.4(ATM):c.2136del (p.Glu713fs)
|
|
|
NM_000051.4(ATM):c.2155_2174del (p.Ser719fs)
|
|
|
NM_000051.4(ATM):c.2165dup (p.Leu722fs)
|
rs1057516393
|
|
NM_000051.4(ATM):c.217_218del (p.Glu73fs)
|
rs762089971
|
|
NM_000051.4(ATM):c.2184del (p.Tyr729fs)
|
|
|
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter)
|
rs1478081526
|
|
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter)
|
rs2229019
|
|
NM_000051.4(ATM):c.2195dup (p.Met732fs)
|
rs1555074971
|
|
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer)
|
rs1555074976
|
|
NM_000051.4(ATM):c.2209G>T (p.Glu737Ter)
|
|
|
NM_000051.4(ATM):c.2218del (p.Ala740fs)
|
|
|
NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter)
|
rs1057524111
|
|
NM_000051.4(ATM):c.222_225del (p.Glu73_Cys74insTer)
|
|
|
NM_000051.4(ATM):c.2237del (p.Phe746fs)
|
|
|
NM_000051.4(ATM):c.2250+1G>A
|
rs1565395193
|
|
NM_000051.4(ATM):c.2251-1G>A
|
rs876659710
|
|
NM_000051.4(ATM):c.2251-1G>C
|
rs876659710
|
|
NM_000051.4(ATM):c.2251-2A>G
|
rs2135405559
|
|
NM_000051.4(ATM):c.2251-4A>G
|
rs786202935
|
|
NM_000051.4(ATM):c.2262del (p.Gln754fs)
|
rs2080573967
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
NM_000051.4(ATM):c.2289del (p.Phe763fs)
|
|
|
NM_000051.4(ATM):c.2295del (p.Asn765fs)
|
rs876658583
|
|
NM_000051.4(ATM):c.229dup (p.Ile77fs)
|
rs1565346867
|
|
NM_000051.4(ATM):c.2301_2304del (p.Asn768fs)
|
rs1565397179
|
|
NM_000051.4(ATM):c.2304_2305insTT (p.Glu769fs)
|
rs2080577927
|
|
NM_000051.4(ATM):c.2314del (p.Arg772fs)
|
|
|
NM_000051.4(ATM):c.2360T>A (p.Leu787Ter)
|
|
|
NM_000051.4(ATM):c.2360del (p.Cys786_Leu787insTer)
|
|
|
NM_000051.4(ATM):c.2376+1G>C
|
rs730881347
|
|
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs)
|
rs1057516980
|
|
NM_000051.4(ATM):c.2379del (p.Ser794fs)
|
|
|
NM_000051.4(ATM):c.237del (p.Lys79fs)
|
rs730881303
|
|
NM_000051.4(ATM):c.2388_2389dup (p.Lys797fs)
|
|
|
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)
|
rs730881348
|
|
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
|
|
|
NM_000051.4(ATM):c.2429dup (p.Leu811fs)
|
|
|
NM_000051.4(ATM):c.242del (p.Asn81fs)
|
|
|
NM_000051.4(ATM):c.2456del (p.Cys819fs)
|
rs2135422280
|
|
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter)
|
rs1442299125
|
|
NM_000051.4(ATM):c.2466+1del
|
rs786202783
|
|
NM_000051.4(ATM):c.2466+2T>C
|
|
|
NM_000051.4(ATM):c.2483del (p.Lys828fs)
|
rs1064794234
|
|
NM_000051.4(ATM):c.248C>G (p.Ser83Ter)
|
|
|
NM_000051.4(ATM):c.2500G>T (p.Glu834Ter)
|
rs876660430
|
|
NM_000051.4(ATM):c.2502dup (p.Val835fs)
|
rs587779822
|
|
NM_000051.4(ATM):c.2503del (p.Glu834_Val835insTer)
|
rs2081303007
|
|
NM_000051.4(ATM):c.2510C>G (p.Ser837Ter)
|
rs2081303434
|
|
NM_000051.4(ATM):c.2521del (p.Asp841fs)
|
rs1175457710
|
|
NM_000051.4(ATM):c.2524dup (p.Thr842fs)
|
rs1555082160
|
|
NM_000051.4(ATM):c.2534del (p.Asn845fs)
|
rs1591587673
|
|
NM_000051.4(ATM):c.2536_2537dup (p.Leu846_Met847insTer)
|
|
|
NM_000051.4(ATM):c.2551del (p.Asp851fs)
|
|
|
NM_000051.4(ATM):c.2564dup (p.Met855fs)
|
rs730881299
|
|
NM_000051.4(ATM):c.2574dup (p.Asn859Ter)
|
rs587778068
|
|
NM_000051.4(ATM):c.2585del (p.Pro862fs)
|
|
|
NM_000051.4(ATM):c.2586del (p.Asp863fs)
|
|
|
NM_000051.4(ATM):c.2613dup (p.Pro872fs)
|
rs1591588646
|
|
NM_000051.4(ATM):c.2617G>T (p.Gly873Ter)
|
|
|
NM_000051.4(ATM):c.2620G>T (p.Glu874Ter)
|
rs1565416901
|
|
NM_000051.4(ATM):c.2623del (p.Ser875fs)
|
|
|
NM_000051.4(ATM):c.2638+1G>T
|
rs2135509713
|
|
NM_000051.4(ATM):c.2638+1del
|
rs1131691153
|
|
NM_000051.4(ATM):c.2638+2T>C
|
rs587779826
|
|
NM_000051.4(ATM):c.2638+2T>G
|
rs587779826
|
|
NM_000051.4(ATM):c.2639-2A>C
|
|
|
NM_000051.4(ATM):c.2639-2A>G
|
rs1591593566
|
|
NM_000051.4(ATM):c.2639-2A>T
|
|
|
NM_000051.4(ATM):c.2654T>A (p.Leu885Ter)
|
|
|
NM_000051.4(ATM):c.2654_2656delinsAA (p.Leu885_Ala886delinsTer)
|
rs1060501679
|
|
NM_000051.4(ATM):c.2662G>T (p.Glu888Ter)
|
rs879254083
|
|
NM_000051.4(ATM):c.2663_2664delinsT (p.Glu888fs)
|
|
|
NM_000051.4(ATM):c.2665dup (p.Tyr889fs)
|
rs2135523450
|
|
NM_000051.4(ATM):c.2668_2669del (p.Leu890fs)
|
|
|
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter)
|
rs876660780
|
|
NM_000051.4(ATM):c.2693T>G (p.Leu898Ter)
|
rs770610463
|
|
NM_000051.4(ATM):c.2700dup (p.Leu901fs)
|
rs1555083198
|
|
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer)
|
rs786202695
|
|
NM_000051.4(ATM):c.2725_2728dup (p.Thr910fs)
|
|
|
NM_000051.4(ATM):c.2727del (p.Thr910fs)
|
rs1555083267
|
|
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs)
|
rs1064794437
|
|
NM_000051.4(ATM):c.2734C>T (p.Gln912Ter)
|
rs764409952
|
|
NM_000051.4(ATM):c.2736del (p.Thr913fs)
|
|
|
NM_000051.4(ATM):c.2749dup (p.Ser917fs)
|
rs1555083315
|
|
NM_000051.4(ATM):c.2754del (p.Phe918fs)
|
rs786202608
|
|
NM_000051.4(ATM):c.2775del (p.Lys926fs)
|
rs1060501702
|
|
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)
|
rs786203309
|
|
NM_000051.4(ATM):c.2794del (p.Asp932fs)
|
|
|
NM_000051.4(ATM):c.2797del (p.Ser933fs)
|
|
|
NM_000051.4(ATM):c.27delinsCC (p.Ile10fs)
|
|
|
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)
|
rs757237504
|
|
NM_000051.4(ATM):c.2817del (p.Lys940fs)
|
rs1555083435
|
|
NM_000051.4(ATM):c.281dup (p.Met94fs)
|
|
|
NM_000051.4(ATM):c.2838+1G>A
|
rs1555083469
|
|
NM_000051.4(ATM):c.2838+1G>T
|
rs1555083469
|
|
NM_000051.4(ATM):c.2838+2T>A
|
|
|
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA
|
rs786202148
|
|
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)
|
rs587781545
|
|
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)
|
rs786203054
|
|
NM_000051.4(ATM):c.2865del (p.Gly956fs)
|
|
|
NM_000051.4(ATM):c.2879_2880del (p.Pro960fs)
|
|
|
NM_000051.4(ATM):c.2880del (p.Leu961fs)
|
rs730881300
|
|
NM_000051.4(ATM):c.2881_2885del (p.Leu961fs)
|
|
|
NM_000051.4(ATM):c.289del (p.Ile97fs)
|
rs878853497
|
|
NM_000051.4(ATM):c.2912_2916del (p.Lys971fs)
|
rs587781656
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
NM_000051.4(ATM):c.2921+1G>T
|
rs587781558
|
|
NM_000051.4(ATM):c.2922-1G>A
|
rs1555084931
|
|
NM_000051.4(ATM):c.2922-1G>C
|
|
|
NM_000051.4(ATM):c.2922-1G>T
|
rs1555084931
|
|
NM_000051.4(ATM):c.2930_2931del (p.Cys977fs)
|
rs1555084947
|
|
NM_000051.4(ATM):c.2938del (p.Tyr980fs)
|
rs1565425118
|
|
NM_000051.4(ATM):c.2956del (p.Val986fs)
|
rs2135552199
|
|
NM_000051.4(ATM):c.2964_2965del (p.Lys988fs)
|
|
|
NM_000051.4(ATM):c.2965del (p.Thr989fs)
|
rs786203539
|
|
NM_000051.4(ATM):c.2966dup (p.Ile990fs)
|
rs1555085060
|
|
NM_000051.4(ATM):c.2972T>A (p.Leu991Ter)
|
|
|
NM_000051.4(ATM):c.2977del (p.His993fs)
|
|
|
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer)
|
rs1060501600
|
|
NM_000051.4(ATM):c.2989del (p.His996_Val997insTer)
|
|
|
NM_000051.4(ATM):c.299T>A (p.Leu100Ter)
|
rs761936549
|
|
NM_000051.4(ATM):c.3024_3025del (p.Asn1010fs)
|
rs2135553856
|
|
NM_000051.4(ATM):c.3034dup (p.Arg1012fs)
|
rs2135554107
|
|
NM_000051.4(ATM):c.3035_3038dup (p.Asp1013fs)
|
|
|
NM_000051.4(ATM):c.3038dup (p.Asp1013fs)
|
rs1131691163
|
|
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter)
|
rs1555085210
|
|
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)
|
rs730881388
|
|
NM_000051.4(ATM):c.3077+1G>A
|
rs192810283
|
|
NM_000051.4(ATM):c.3078-1G>T
|
|
|
NM_000051.4(ATM):c.3078-2A>C
|
rs2135564916
|
|
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys)
|
rs876660869
|
|
NM_000051.4(ATM):c.3085dup (p.Thr1029fs)
|
rs876658502
|
|
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)
|
rs780240314
|
|
NM_000051.4(ATM):c.3112_3113del (p.Val1038fs)
|
rs2135565843
|
|
NM_000051.4(ATM):c.3113dup (p.Arg1039fs)
|
|
|
NM_000051.4(ATM):c.311del (p.Phe104fs)
|
rs1555055309
|
|
NM_000051.4(ATM):c.3141_3142del (p.Lys1047fs)
|
|
|
NM_000051.4(ATM):c.3146del (p.Leu1049fs)
|
|
|
NM_000051.4(ATM):c.3153+1G>T
|
rs2081646501
|
|
NM_000051.4(ATM):c.3154-1G>A
|
rs1555085973
|
|
NM_000051.4(ATM):c.3154-1G>T
|
rs1555085973
|
|
NM_000051.4(ATM):c.3154-1_3154delinsTT
|
rs2081657007
|
|
NM_000051.4(ATM):c.3154-2A>C
|
|
|
NM_000051.4(ATM):c.3167C>A (p.Ser1056Ter)
|
rs1565428419
|
|
NM_000051.4(ATM):c.3167C>G (p.Ser1056Ter)
|
|
|
NM_000051.4(ATM):c.316A>T (p.Lys106Ter)
|
|
|
NM_000051.4(ATM):c.3171dup (p.Trp1058fs)
|
rs2135570105
|
|
NM_000051.4(ATM):c.3173G>A (p.Trp1058Ter)
|
|
|
NM_000051.4(ATM):c.3188dup (p.Met1064fs)
|
rs2135570632
|
|
NM_000051.4(ATM):c.3206del (p.Pro1069fs)
|
rs1060501677
|
|
NM_000051.4(ATM):c.3218dup (p.Phe1074fs)
|
rs876660741
|
|
NM_000051.4(ATM):c.3230_3231del (p.Phe1077fs)
|
|
|
NM_000051.4(ATM):c.3231dup (p.Leu1078fs)
|
rs1057517097
|
|
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs)
|
rs1060501587
|
|
NM_000051.4(ATM):c.3244_3245insG (p.His1082fs)
|
rs761486324
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
NM_000051.4(ATM):c.3248A>G (p.His1083Arg)
|
rs2081667850
|
|
NM_000051.4(ATM):c.3250C>T (p.Gln1084Ter)
|
rs1386063673
|
|
NM_000051.4(ATM):c.3252_3259del (p.Gln1084fs)
|
rs876658402
|
|
NM_000051.4(ATM):c.325_326del (p.Asn109fs)
|
rs2135038488
|
|
NM_000051.4(ATM):c.3261del (p.Met1087fs)
|
rs1565429054
|
|
NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter)
|
rs774197372
|
|
NM_000051.4(ATM):c.3279_3280insT (p.Asn1094Ter)
|
rs1131691155
|
|
NM_000051.4(ATM):c.3281del (p.Asn1094fs)
|
rs776516754
|
|
NM_000051.4(ATM):c.3284+1G>A
|
rs864622129
|
|
NM_000051.4(ATM):c.3284+1G>C
|
rs864622129
|
|
NM_000051.4(ATM):c.3284+2T>C
|
|
|
NM_000051.4(ATM):c.3289_3299delinsGTGTCCA (p.Phe1097fs)
|
|
|
NM_000051.4(ATM):c.3292C>T (p.Gln1098Ter)
|
rs773964990
|
|
NM_000051.4(ATM):c.3292del (p.Gln1098fs)
|
rs1555090075
|
|
NM_000051.4(ATM):c.3292dup (p.Gln1098fs)
|
|
|
NM_000051.4(ATM):c.3297del (p.Asp1099fs)
|
rs2082115419
|
|
NM_000051.4(ATM):c.3304G>T (p.Gly1102Ter)
|
rs147557621
|
|
NM_000051.4(ATM):c.331+1G>A
|
rs1555055356
|
|
NM_000051.4(ATM):c.331+1G>C
|
|
|
NM_000051.4(ATM):c.331+2T>C
|
rs1555055358
|
|
NM_000051.4(ATM):c.331+2del
|
|
|
NM_000051.4(ATM):c.331+5G>A
|
rs752135143
|
|
NM_000051.4(ATM):c.3310del (p.Ser1104fs)
|
|
|
NM_000051.4(ATM):c.3310dup (p.Ser1104fs)
|
|
|
NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer)
|
rs1555090139
|
|
NM_000051.4(ATM):c.3340A>T (p.Lys1114Ter)
|
rs1049900772
|
|
NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter)
|
rs786201957
|
|
NM_000051.4(ATM):c.334del (p.Ala112fs)
|
|
|
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)
|
rs1057516446
|
|
NM_000051.4(ATM):c.3352del (p.Thr1118fs)
|
rs2082120435
|
|
NM_000051.4(ATM):c.3369del (p.Tyr1124fs)
|
rs587781752
|
|
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)
|
rs587781971
|
|
NM_000051.4(ATM):c.3382C>T (p.Gln1128Ter)
|
rs876659825
|
|
NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter)
|
rs587781911
|
|
NM_000051.4(ATM):c.3402+1G>T
|
rs1565439606
|
|
NM_000051.4(ATM):c.340del (p.Arg114fs)
|
|
|
NM_000051.4(ATM):c.3422del (p.Pro1141fs)
|
|
|
NM_000051.4(ATM):c.3431del (p.Leu1144fs)
|
rs1555091158
|
|
NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs)
|
rs886039632
|
|
NM_000051.4(ATM):c.3439del (p.Ile1147fs)
|
|
|
NM_000051.4(ATM):c.3448A>T (p.Arg1150Ter)
|
rs786201209
|
|
NM_000051.4(ATM):c.3450_3454del (p.Arg1150fs)
|
rs1060501676
|
|
NM_000051.4(ATM):c.3453dup (p.Ser1152fs)
|
rs2135666539
|
|
NM_000051.4(ATM):c.3461del (p.Leu1154fs)
|
|
|
NM_000051.4(ATM):c.3470_3479del (p.Leu1157fs)
|
|
|
NM_000051.4(ATM):c.3475del (p.Ala1159fs)
|
|
|
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer)
|
rs1555091238
|
|
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter)
|
rs1591636613
|
|
NM_000051.4(ATM):c.3485del (p.Leu1162fs)
|
rs2082207948
|
|
NM_000051.4(ATM):c.3509_3510del (p.Lys1170fs)
|
|
|
NM_000051.4(ATM):c.3510dup (p.Gln1171fs)
|
rs876658899
|
|
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter)
|
rs876659067
|
|
NM_000051.4(ATM):c.3517_3518del (p.Leu1173fs)
|
|
|
NM_000051.4(ATM):c.3520_3523del (p.Phe1174fs)
|
rs1394502687
|
|
NM_000051.4(ATM):c.3526_3527del (p.Leu1176fs)
|
|
|
NM_000051.4(ATM):c.3526del (p.Leu1176fs)
|
rs730881302
|
|
NM_000051.4(ATM):c.352C>T (p.Gln118Ter)
|
rs2079235532
|
|
NM_000051.4(ATM):c.3532A>T (p.Lys1178Ter)
|
rs1555091359
|
|
NM_000051.4(ATM):c.3538del (p.Ser1179_Val1180insTer)
|
rs1555091370
|
|
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs)
|
rs1555091367
|
|
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter)
|
rs1057516981
|
|
NM_000051.4(ATM):c.3546_3547del (p.Asn1183fs)
|
rs768356403
|
|
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn)
|
rs587776551
|
|
NM_000051.4(ATM):c.3576_3576+7del
|
|
|
NM_000051.4(ATM):c.3577-1G>C
|
rs1057517226
|
|
NM_000051.4(ATM):c.3577-2A>G
|
rs887358871
|
|
NM_000051.4(ATM):c.3589del (p.Val1197fs)
|
|
|
NM_000051.4(ATM):c.3592dup (p.Ser1198fs)
|
|
|
NM_000051.4(ATM):c.3599_3600del (p.Thr1200fs)
|
|
|
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs)
|
rs1057517129
|
|
NM_000051.4(ATM):c.3603del (p.Phe1201fs)
|
rs1057517129
|
|
NM_000051.4(ATM):c.3605del (p.Gly1202fs)
|
|
|
NM_000051.4(ATM):c.3607_3620del (p.Tyr1203fs)
|
|
|
NM_000051.4(ATM):c.3609del (p.Gly1202_Tyr1203insTer)
|
rs1555092297
|
|
NM_000051.4(ATM):c.3617T>A (p.Leu1206Ter)
|
|
|
NM_000051.4(ATM):c.3617T>G (p.Leu1206Ter)
|
|
|
NM_000051.4(ATM):c.3617_3621delinsG (p.Leu1206fs)
|
rs876660783
|
|
NM_000051.4(ATM):c.3619G>T (p.Glu1207Ter)
|
rs772724024
|
|
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs)
|
rs587782861
|
|
NM_000051.4(ATM):c.3627del (p.Phe1209fs)
|
rs587782861
|
|
NM_000051.4(ATM):c.362T>A (p.Leu121Ter)
|
rs771342315
|
|
NM_000051.4(ATM):c.3631del (p.Ala1211fs)
|
rs1064795885
|
|
NM_000051.4(ATM):c.3634del (p.Ser1212fs)
|
|
|
NM_000051.4(ATM):c.3656dup (p.Leu1219fs)
|
|
|
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter)
|
rs1555092430
|
|
NM_000051.4(ATM):c.368del (p.Tyr123fs)
|
rs730881296
|
|
NM_000051.4(ATM):c.3693del (p.Leu1231fs)
|
|
|
NM_000051.4(ATM):c.3699_3703del (p.Pro1235fs)
|
rs2082305146
|
|
NM_000051.4(ATM):c.370_374del (p.Ile124fs)
|
rs2079237399
|
|
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)
|
rs786201675
|
|
NM_000051.4(ATM):c.3746+1G>T
|
rs2082309297
|
|
NM_000051.4(ATM):c.3746+2T>A
|
|
|
NM_000051.4(ATM):c.3746+2T>C
|
|
|
NM_000051.4(ATM):c.3746+2T>G
|
|
|
NM_000051.4(ATM):c.3747-1G>A
|
rs730881364
|
|
NM_000051.4(ATM):c.3747-1G>C
|
rs730881364
|
|
NM_000051.4(ATM):c.3747-2A>G
|
rs1057517213
|
|
NM_000051.4(ATM):c.3750_3751del (p.Cys1251fs)
|
|
|
NM_000051.4(ATM):c.3753T>A (p.Cys1251Ter)
|
|
|
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs)
|
rs786201886
|
|
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)
|
rs886039637
|
|
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs)
|
rs1555093289
|
|
NM_000051.4(ATM):c.3758_3759del (p.Lys1253fs)
|
rs2135704536
|
|
NM_000051.4(ATM):c.3760del (p.Val1254fs)
|
rs786203507
|
|
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter)
|
rs2082374257
|
|
NM_000051.4(ATM):c.3764dup (p.Leu1255fs)
|
rs1555093303
|
|
NM_000051.4(ATM):c.3771dup (p.His1258fs)
|
|
|
NM_000051.4(ATM):c.3780dup (p.Ile1261fs)
|
rs786202694
|
|
NM_000051.4(ATM):c.378del (p.Asp126fs)
|
rs587781449
|
|
NM_000051.4(ATM):c.3799G>T (p.Glu1267Ter)
|
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.3807_3811del (p.Lys1269fs)
|
|
|
NM_000051.4(ATM):c.3810_3813delinsAATGG (p.Ile1271fs)
|
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
NM_000051.4(ATM):c.3826C>T (p.Gln1276Ter)
|
|
|
NM_000051.4(ATM):c.382del (p.Thr127_Val128insTer)
|
rs2135122447
|
|
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter)
|
rs587779836
|
|
NM_000051.4(ATM):c.3837G>A (p.Trp1279Ter)
|
|
|
NM_000051.4(ATM):c.3841del (p.Ser1281fs)
|
rs886039621
|
|
NM_000051.4(ATM):c.3850del (p.Thr1284fs)
|
rs876660865
|
|
NM_000051.4(ATM):c.3852del (p.Asp1285fs)
|
rs886039605
|
|
NM_000051.4(ATM):c.3865A>T (p.Lys1289Ter)
|
rs1131691160
|
|
NM_000051.4(ATM):c.387del (p.Asp130fs)
|
rs745642834
|
|
NM_000051.4(ATM):c.3880dup (p.Ile1294fs)
|
rs1057516541
|
|
NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)
|
|
|
NM_000051.4(ATM):c.3894dup (p.Ala1299fs)
|
rs587781823
|
|
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)
|
|
|
NM_000051.4(ATM):c.3915_3916del (p.Asp1305fs)
|
|
|
NM_000051.4(ATM):c.3916_3917del (p.Ser1306fs)
|
rs2135708324
|
|
NM_000051.4(ATM):c.3928C>T (p.Gln1310Ter)
|
|
|
NM_000051.4(ATM):c.3929del (p.Gln1310fs)
|
|
|
NM_000051.4(ATM):c.392C>G (p.Ser131Ter)
|
rs1363726955
|
|
NM_000051.4(ATM):c.3935dup (p.Glu1313fs)
|
rs876659672
|
|
NM_000051.4(ATM):c.3937G>T (p.Glu1313Ter)
|
|
|
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs)
|
rs1555093684
|
|
NM_000051.4(ATM):c.3952del (p.Val1318fs)
|
rs1591646354
|
|
NM_000051.4(ATM):c.3956_3957del (p.Val1318_Tyr1319insTer)
|
|
|
NM_000051.4(ATM):c.3963delinsTGTGTATGGGTATGGTATGTGTGTTGCTGGTGAGGGGACTTGCTAAGTATTGTTAACTAATTTTAAATTAAACAAATTTCA (p.Met1321delinsIleValTyrGlyTyrGlyMetCysValAlaGlyGluGlyThrCysTer)
|
|
|
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter)
|
rs587782192
|
|
NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter)
|
rs2082389962
|
|
NM_000051.4(ATM):c.3993+1G>T
|
rs200196781
|
|
NM_000051.4(ATM):c.3993+2T>C
|
rs2135710273
|
|
NM_000051.4(ATM):c.3994-1G>A
|
|
|
NM_000051.4(ATM):c.3994-1G>C
|
|
|
NM_000051.4(ATM):c.3994-1G>T
|
rs1057516238
|
|
NM_000051.4(ATM):c.3994-2A>C
|
rs587782276
|
|
NM_000051.4(ATM):c.3994-2A>T
|
|
|
NM_000051.4(ATM):c.3G>C (p.Met1Ile)
|
|
|
NM_000051.4(ATM):c.4000_4006del (p.His1334fs)
|
rs2135735093
|
|
NM_000051.4(ATM):c.4002_4005del (p.Leu1335fs)
|
|
|
NM_000051.4(ATM):c.4003_4004del (p.Leu1335fs)
|
|
|
NM_000051.4(ATM):c.4004T>G (p.Leu1335Ter)
|
|
|
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)
|
rs1057517140
|
|
NM_000051.4(ATM):c.4052del (p.Leu1351fs)
|
rs786202350
|
|
NM_000051.4(ATM):c.4056_4065del (p.His1352fs)
|
rs1555095955
|
|
NM_000051.4(ATM):c.4066_4072delinsTGTCAGTAACACTAGTTACT (p.Asn1356_Ser1358delinsCysGlnTer)
|
|
|
NM_000051.4(ATM):c.4081C>T (p.Gln1361Ter)
|
rs121434222
|
|
NM_000051.4(ATM):c.4093del (p.Leu1365fs)
|
rs2135737651
|
|
NM_000051.4(ATM):c.4095_4096insCT (p.Cys1366fs)
|
|
|
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer)
|
rs876658248
|
|
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)
|
rs879254189
|
|
NM_000051.4(ATM):c.4107del (p.Asp1371fs)
|
|
|
NM_000051.4(ATM):c.4109+1G>T
|
rs879254034
|
|
NM_000051.4(ATM):c.4109+2T>C
|
|
|
NM_000051.4(ATM):c.4110-1G>A
|
rs1060501692
|
|
NM_000051.4(ATM):c.4110-1G>C
|
rs1060501692
|
|
NM_000051.4(ATM):c.4110-2A>G
|
rs2135750262
|
|
NM_000051.4(ATM):c.4110-9C>G
|
rs730881367
|
|
NM_000051.4(ATM):c.4111del
|
rs797045114
|
|
NM_000051.4(ATM):c.4115del (p.Leu1372fs)
|
rs2082638431
|
|
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter)
|
rs756160533
|
|
NM_000051.4(ATM):c.4143dup (p.Pro1382fs)
|
rs730881309
|
|
NM_000051.4(ATM):c.4146del (p.Ser1383fs)
|
|
|
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)
|
rs141087784
|
|
NM_000051.4(ATM):c.4158dup (p.Lys1387Ter)
|
|
|
NM_000051.4(ATM):c.4161dup (p.Ala1388fs)
|
|
|
NM_000051.4(ATM):c.417del (p.Asp140fs)
|
|
|
NM_000051.4(ATM):c.4188T>A (p.Cys1396Ter)
|
|
|
NM_000051.4(ATM):c.4189dup (p.His1397fs)
|
rs2082644891
|
|
NM_000051.4(ATM):c.4202T>A (p.Leu1401Ter)
|
rs1555096975
|
|
NM_000051.4(ATM):c.4210del (p.Ile1404fs)
|
|
|
NM_000051.4(ATM):c.4214T>G (p.Leu1405Ter)
|
|
|
NM_000051.4(ATM):c.4227del (p.Ser1411fs)
|
rs587782054
|
|
NM_000051.4(ATM):c.4236+1G>T
|
rs876660674
|
|
NM_000051.4(ATM):c.4236+1_4236+2del
|
rs2135753954
|
|
NM_000051.4(ATM):c.4236del (p.Asp1413fs)
|
rs1565455297
|
|
NM_000051.4(ATM):c.4249A>T (p.Lys1417Ter)
|
rs1591662598
|
|
NM_000051.4(ATM):c.4252_4259dup (p.Ala1421fs)
|
rs1591662606
|
|
NM_000051.4(ATM):c.4258_4259del (p.Leu1420fs)
|
|
|
NM_000051.4(ATM):c.4289_4292del (p.Asn1430fs)
|
rs2135760623
|
|
NM_000051.4(ATM):c.4299_4300del (p.Tyr1433_Lys1434delinsTer)
|
|
|
NM_000051.4(ATM):c.4303A>T (p.Lys1435Ter)
|
rs876660964
|
|
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)
|
rs1060501551
|
|
NM_000051.4(ATM):c.4330_4333delinsTAAAATAAA (p.Leu1444_Phe1445delinsTer)
|
rs1064792938
|
|
NM_000051.4(ATM):c.4335_4338del (p.Phe1445fs)
|
rs2135762355
|
|
NM_000051.4(ATM):c.4344dup (p.Leu1449fs)
|
rs1555097604
|
|
NM_000051.4(ATM):c.4353dup (p.Asp1452fs)
|
|
|
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)
|
rs1555097650
|
|
NM_000051.4(ATM):c.4358del (p.Ile1453fs)
|
rs2082679287
|
|
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)
|
rs373226793
|
|
NM_000051.4(ATM):c.4373del (p.Gly1458fs)
|
rs587781653
|
|
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)
|
rs730881369
|
|
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer)
|
rs771887195
|
|
NM_000051.4(ATM):c.4414_4423del (p.Leu1472fs)
|
|
|
NM_000051.4(ATM):c.4415T>A (p.Leu1472Ter)
|
rs772555314
|
|
NM_000051.4(ATM):c.441dup (p.Asp148fs)
|
rs1427164968
|
|
NM_000051.4(ATM):c.4421_4432delinsCAACT (p.His1474fs)
|
|
|
NM_000051.4(ATM):c.4426_4436+14del
|
|
|
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter)
|
rs1368412801
|
|
NM_000051.4(ATM):c.4436+1G>A
|
rs1555097894
|
|
NM_000051.4(ATM):c.4436+1G>T
|
rs1555097894
|
|
NM_000051.4(ATM):c.4451del (p.Met1484fs)
|
rs1555099760
|
|
NM_000051.4(ATM):c.4463T>G (p.Leu1488Ter)
|
|
|
NM_000051.4(ATM):c.4465dup (p.Arg1489fs)
|
|
|
NM_000051.4(ATM):c.4473del (p.Ser1492fs)
|
|
|
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
|
|
|
NM_000051.4(ATM):c.4493T>G (p.Leu1498Ter)
|
rs1329359780
|
|
NM_000051.4(ATM):c.4493_4497del (p.Leu1498fs)
|
|
|
NM_000051.4(ATM):c.4495_4496insTAAA (p.Ser1499fs)
|
|
|
NM_000051.4(ATM):c.4498C>T (p.Gln1500Ter)
|
|
|
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer)
|
rs771936821
|
|
NM_000051.4(ATM):c.4524C>A (p.Tyr1508Ter)
|
rs1555099892
|
|
NM_000051.4(ATM):c.4572dup (p.Ile1525fs)
|
|
|
NM_000051.4(ATM):c.4573dup (p.Ile1525fs)
|
|
|
NM_000051.4(ATM):c.4576_4577insT (p.Pro1526fs)
|
rs1591674707
|
|
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter)
|
rs1555100005
|
|
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter)
|
rs864622479
|
|
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)
|
rs2082872908
|
|
NM_000051.4(ATM):c.4592del (p.Gln1531fs)
|
|
|
NM_000051.4(ATM):c.4603del (p.Gln1535fs)
|
|
|
NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter)
|
rs1555100037
|
|
NM_000051.4(ATM):c.4610_4611del (p.Gln1537fs)
|
|
|
NM_000051.4(ATM):c.4611+1del
|
rs1565461824
|
|
NM_000051.4(ATM):c.4611_4611+9del
|
rs780969040
|
|
NM_000051.4(ATM):c.4612-2A>C
|
rs1555100347
|
|
NM_000051.4(ATM):c.4612-3_4616del
|
rs773012957
|
|
NM_000051.4(ATM):c.4612_4621del (p.Val1538fs)
|
|
|
NM_000051.4(ATM):c.4622T>A (p.Leu1541Ter)
|
|
|
NM_000051.4(ATM):c.4622del (p.Leu1541fs)
|
rs2135809766
|
|
NM_000051.4(ATM):c.4625dup (p.Leu1542fs)
|
rs730881304
|
|
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer)
|
rs1064794236
|
|
NM_000051.4(ATM):c.4642_4645del (p.Asp1548fs)
|
rs876659535
|
|
NM_000051.4(ATM):c.465C>A (p.Tyr155Ter)
|
|
|
NM_000051.4(ATM):c.4661del (p.Asn1554fs)
|
rs1064793390
|
|
NM_000051.4(ATM):c.4664_4665insATATATCTATATATAGGTTTTAGATCCTATATCTATATCTATATAGGATCTAAAAG (p.Ile1557_Thr1558insTyrIleTerTyrIle)
|
|
|
NM_000051.4(ATM):c.4664del (p.Leu1555fs)
|
rs876659039
|
|
NM_000051.4(ATM):c.4665_4666del (p.Ile1557fs)
|
|
|
NM_000051.4(ATM):c.4668T>A (p.Tyr1556Ter)
|
rs766438805
|
|
NM_000051.4(ATM):c.467G>A (p.Trp156Ter)
|
rs876658159
|
|
NM_000051.4(ATM):c.4680del (p.Lys1560fs)
|
|
|
NM_000051.4(ATM):c.468G>A (p.Trp156Ter)
|
rs1591475457
|
|
NM_000051.4(ATM):c.468del (p.Trp156fs)
|
rs2079245902
|
|
NM_000051.4(ATM):c.4691del (p.Pro1564fs)
|
|
|
NM_000051.4(ATM):c.4698dup (p.Asp1567Ter)
|
|
|
NM_000051.4(ATM):c.4730_4733del (p.Thr1577fs)
|
|
|
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter)
|
rs746499337
|
|
NM_000051.4(ATM):c.4734_4736delinsCC (p.Gln1578fs)
|
|
|
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)
|
rs869312755
|
|
NM_000051.4(ATM):c.4741_4742delinsG (p.Ile1581fs)
|
|
|
NM_000051.4(ATM):c.4741del (p.Ile1581fs)
|
rs864622164
|
|
NM_000051.4(ATM):c.4741dup (p.Ile1581fs)
|
rs864622164
|
|
NM_000051.4(ATM):c.4749C>A (p.Tyr1583Ter)
|
|
|
NM_000051.4(ATM):c.4761dup (p.Phe1588fs)
|
rs1591677757
|
|
NM_000051.4(ATM):c.4774G>T (p.Glu1592Ter)
|
rs876658587
|
|
NM_000051.4(ATM):c.4776+1G>T
|
rs771117943
|
|
NM_000051.4(ATM):c.4776+2T>A
|
rs587781927
|
|
NM_000051.4(ATM):c.4776+2T>C
|
rs587781927
|
|
NM_000051.4(ATM):c.4776+2_4776+13del
|
rs762838462
|
|
NM_000051.4(ATM):c.4777-2A>C
|
|
|
NM_000051.4(ATM):c.4777-5_4795del
|
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
NM_000051.4(ATM):c.4796C>A (p.Ser1599Ter)
|
|
|
NM_000051.4(ATM):c.4799dup (p.Ser1601fs)
|
rs2135834235
|
|
NM_000051.4(ATM):c.4800_4803del (p.Ser1601fs)
|
rs1060501659
|
|
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)
|
rs864622290
|
|
NM_000051.4(ATM):c.4808_4809del (p.Val1602_Tyr1603insTer)
|
|
|
NM_000051.4(ATM):c.4823T>A (p.Leu1608Ter)
|
|
|
NM_000051.4(ATM):c.4842_4843insCT (p.Lys1615fs)
|
rs753011366
|
|
NM_000051.4(ATM):c.4864G>T (p.Glu1622Ter)
|
|
|
NM_000051.4(ATM):c.4864del (p.Glu1622fs)
|
rs2083042256
|
|
NM_000051.4(ATM):c.487C>T (p.Gln163Ter)
|
rs1591475608
|
|
NM_000051.4(ATM):c.4888G>A (p.Asp1630Asn)
|
rs1555101921
|
|
NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter)
|
rs1060501627
|
|
NM_000051.4(ATM):c.4909+1G>T
|
rs756987454
|
|
NM_000051.4(ATM):c.4909+1del
|
|
|
NM_000051.4(ATM):c.4909+2T>C
|
|
|
NM_000051.4(ATM):c.4909+8T>G
|
|
|
NM_000051.4(ATM):c.4910-1G>T
|
rs1060501706
|
|
NM_000051.4(ATM):c.4910-2A>G
|
rs1555103156
|
|
NM_000051.4(ATM):c.4918dup (p.Gln1640fs)
|
|
|
NM_000051.4(ATM):c.491G>A (p.Trp164Ter)
|
|
|
NM_000051.4(ATM):c.4929del (p.Met1644fs)
|
rs2083175858
|
|
NM_000051.4(ATM):c.492G>A (p.Trp164Ter)
|
rs1555059530
|
|
NM_000051.4(ATM):c.4938del (p.Lys1646fs)
|
rs587781754
|
|
NM_000051.4(ATM):c.4955del (p.Leu1652fs)
|
|
|
NM_000051.4(ATM):c.495_496+16del
|
rs1555059522
|
|
NM_000051.4(ATM):c.4961T>G (p.Leu1654Ter)
|
|
|
NM_000051.4(ATM):c.4965del (p.Lys1656fs)
|
|
|
NM_000051.4(ATM):c.496_496+1dup
|
|
|
NM_000051.4(ATM):c.497-1G>C
|
rs778624615
|
|
NM_000051.4(ATM):c.497-1G>T
|
rs778624615
|
|
NM_000051.4(ATM):c.4972del (p.Ala1658fs)
|
|
|
NM_000051.4(ATM):c.5001del (p.Val1667_Leu1668insTer)
|
|
|
NM_000051.4(ATM):c.5005+1G>A
|
rs1057517427
|
|
NM_000051.4(ATM):c.5013del (p.Gly1672fs)
|
|
|
NM_000051.4(ATM):c.5015_5018del (p.Gly1672fs)
|
|
|
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter)
|
rs1555104609
|
|
NM_000051.4(ATM):c.5091_5094delinsAA (p.Lys1698fs)
|
|
|
NM_000051.4(ATM):c.5098del (p.Lys1701fs)
|
rs1555104689
|
|
NM_000051.4(ATM):c.50_51del (p.His17fs)
|
rs775561876
|
|
NM_000051.4(ATM):c.5100del (p.Lys1701fs)
|
|
|
NM_000051.4(ATM):c.510_511del (p.Tyr171fs)
|
rs1591499665
|
|
NM_000051.4(ATM):c.5129G>A (p.Trp1710Ter)
|
|
|
NM_000051.4(ATM):c.5130G>A (p.Trp1710Ter)
|
|
|
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)
|
rs786201693
|
|
NM_000051.4(ATM):c.5156del (p.Asn1719fs)
|
rs1591702951
|
|
NM_000051.4(ATM):c.5177+1G>T
|
|
|
NM_000051.4(ATM):c.5178-1G>A
|
rs1555105579
|
|
NM_000051.4(ATM):c.5178-2A>G
|
rs2135911500
|
|
NM_000051.4(ATM):c.5184dup (p.Val1729fs)
|
rs1555105588
|
|
NM_000051.4(ATM):c.5192C>G (p.Ser1731Ter)
|
rs886039627
|
|
NM_000051.4(ATM):c.5205del (p.Cys1736fs)
|
|
|
NM_000051.4(ATM):c.5216del (p.Asn1739fs)
|
|
|
NM_000051.4(ATM):c.5250G>A (p.Trp1750Ter)
|
|
|
NM_000051.4(ATM):c.5272_5273del (p.Asp1758fs)
|
|
|
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter)
|
rs1555105786
|
|
NM_000051.4(ATM):c.5288_5298del (p.Tyr1763fs)
|
rs2135914733
|
|
NM_000051.4(ATM):c.5297del (p.Pro1766fs)
|
|
|
NM_000051.4(ATM):c.5301del (p.Phe1767fs)
|
|
|
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter)
|
rs121434223
|
|
NM_000051.4(ATM):c.5312_5313delinsC (p.Arg1771fs)
|
|
|
NM_000051.4(ATM):c.5318del (p.Lys1773fs)
|
rs876660289
|
|
NM_000051.4(ATM):c.5319+1G>T
|
rs876660175
|
|
NM_000051.4(ATM):c.5319+2T>C
|
rs1555105842
|
|
NM_000051.4(ATM):c.5320-2A>G
|
|
|
NM_000051.4(ATM):c.5320-5_5320-2del
|
rs730881310
|
|
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)
|
rs1555106321
|
|
NM_000051.4(ATM):c.5335del (p.Arg1779fs)
|
|
|
NM_000051.4(ATM):c.5344A>T (p.Lys1782Ter)
|
|
|
NM_000051.4(ATM):c.5346dup (p.Glu1783fs)
|
rs2135927478
|
|
NM_000051.4(ATM):c.5347G>T (p.Glu1783Ter)
|
|
|
NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs)
|
rs2135927504
|
|
NM_000051.4(ATM):c.5358_5377dup (p.Asn1793delinsMetLysAlaTrpMetIleTer)
|
|
|
NM_000051.4(ATM):c.5372dup (p.Asp1791fs)
|
|
|
NM_000051.4(ATM):c.5374_5385delinsTCCTCTAAGTGA (p.Ile1792_Trp1795delinsSerSerLysTer)
|
|
|
NM_000051.4(ATM):c.5381del (p.Leu1794fs)
|
|
|
NM_000051.4(ATM):c.5396del (p.Ser1799fs)
|
rs587782812
|
|
NM_000051.4(ATM):c.5402dup (p.Asn1801fs)
|
rs1555106438
|
|
NM_000051.4(ATM):c.5403_5413del (p.Asn1801fs)
|
|
|
NM_000051.4(ATM):c.5405dup (p.His1802fs)
|
rs1555106452
|
|
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter)
|
rs879254171
|
|
NM_000051.4(ATM):c.5415_5416insTCCT (p.Ile1806fs)
|
|
|
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer)
|
rs879254041
|
|
NM_000051.4(ATM):c.5425del (p.Thr1808_Leu1809insTer)
|
|
|
NM_000051.4(ATM):c.5430_5431del (p.Ala1812fs)
|
rs2135929688
|
|
NM_000051.4(ATM):c.5441T>A (p.Leu1814Ter)
|
|
|
NM_000051.4(ATM):c.5441del (p.Leu1814fs)
|
|
|
NM_000051.4(ATM):c.5441dup (p.Leu1814fs)
|
rs1555106508
|
|
NM_000051.4(ATM):c.5443del (p.Asp1815fs)
|
rs878853522
|
|
NM_000051.4(ATM):c.5447_5468del (p.Ser1816fs)
|
|
|
NM_000051.4(ATM):c.5460del (p.Lys1820fs)
|
|
|
NM_000051.4(ATM):c.5460dup (p.Cys1821fs)
|
rs1057516760
|
|
NM_000051.4(ATM):c.5469del (p.Leu1824fs)
|
|
|
NM_000051.4(ATM):c.5473C>T (p.Gln1825Ter)
|
rs1555106553
|
|
NM_000051.4(ATM):c.5496+1G>C
|
|
|
NM_000051.4(ATM):c.5496+2T>G
|
rs1591713093
|
|
NM_000051.4(ATM):c.5496+2_5496+5del
|
rs1565479572
|
|
NM_000051.4(ATM):c.5497-1G>A
|
rs876660245
|
|
NM_000051.4(ATM):c.5497-2A>C
|
rs786203796
|
|
NM_000051.4(ATM):c.5497-2A>G
|
rs786203796
|
|
NM_000051.4(ATM):c.549_550del (p.His183fs)
|
rs730881297
|
|
NM_000051.4(ATM):c.5508_5509delinsG (p.Asp1836fs)
|
|
|
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)
|
rs1555107263
|
|
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)
|
rs786204751
|
|
NM_000051.4(ATM):c.552_553del (p.Arg184fs)
|
|
|
NM_000051.4(ATM):c.5532C>G (p.Tyr1844Ter)
|
rs2135943149
|
|
NM_000051.4(ATM):c.5549del (p.Leu1850fs)
|
rs876658287
|
|
NM_000051.4(ATM):c.5550dup (p.Leu1851fs)
|
|
|
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)
|
rs754562056
|
|
NM_000051.4(ATM):c.5554_5557delinsTAAA (p.Gln1852_Asp1853delinsTer)
|
|
|
NM_000051.4(ATM):c.5554dup (p.Gln1852fs)
|
rs1555107356
|
|
NM_000051.4(ATM):c.5568dup (p.Ser1857fs)
|
|
|
NM_000051.4(ATM):c.5570C>A (p.Ser1857Ter)
|
rs2135944016
|
|
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter)
|
rs879254076
|
|
NM_000051.4(ATM):c.5599C>T (p.Gln1867Ter)
|
|
|
NM_000051.4(ATM):c.5610del (p.Phe1870fs)
|
|
|
NM_000051.4(ATM):c.561_562delinsT (p.Ala188fs)
|
rs1064793031
|
|
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs)
|
rs758852420
|
|
NM_000051.4(ATM):c.5632del (p.Ser1878fs)
|
|
|
NM_000051.4(ATM):c.5633C>A (p.Ser1878Ter)
|
|
|
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs)
|
rs1591718522
|
|
NM_000051.4(ATM):c.5650del (p.Thr1884fs)
|
|
|
NM_000051.4(ATM):c.5653dup (p.Thr1885fs)
|
rs587778077
|
|
NM_000051.4(ATM):c.5657del (p.Pro1886fs)
|
rs2135946188
|
|
NM_000051.4(ATM):c.5672C>A (p.Ser1891Ter)
|
|
|
NM_000051.4(ATM):c.5674+1G>T
|
rs1565482453
|
|
NM_000051.4(ATM):c.5674+1dup
|
|
|
NM_000051.4(ATM):c.5674G>T (p.Glu1892Ter)
|
|
|
NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs)
|
rs1060501580
|
|
NM_000051.4(ATM):c.5690del (p.Phe1897fs)
|
rs1591731851
|
|
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter)
|
rs753839301
|
|
NM_000051.4(ATM):c.5698del (p.Cys1900fs)
|
|
|
NM_000051.4(ATM):c.5699_5700del (p.Cys1900fs)
|
|
|
NM_000051.4(ATM):c.5707A>T (p.Lys1903Ter)
|
|
|
NM_000051.4(ATM):c.5712del (p.Lys1904fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5719_5722del (p.Arg1907fs)
|
rs1591732123
|
|
NM_000051.4(ATM):c.5732_5748del (p.Ala1911fs)
|
rs1565486174
|
|
NM_000051.4(ATM):c.5736del (p.Val1913fs)
|
|
|
NM_000051.4(ATM):c.573dup (p.His192fs)
|
|
|
NM_000051.4(ATM):c.5758_5759del (p.Lys1920fs)
|
rs1555109177
|
|
NM_000051.4(ATM):c.5762+1G>A
|
rs869312756
|
|
NM_000051.4(ATM):c.5762+1G>T
|
rs869312756
|
|
NM_000051.4(ATM):c.5762+9A>G
|
rs1565486371
|
|
NM_000051.4(ATM):c.5763-2A>C
|
rs876659489
|
|
NM_000051.4(ATM):c.5763-2A>T
|
rs876659489
|
|
NM_000051.4(ATM):c.5765del (p.Pro1922fs)
|
rs786202814
|
|
NM_000051.4(ATM):c.5770del (p.Ser1924fs)
|
|
|
NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter)
|
rs876658831
|
|
NM_000051.4(ATM):c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (p.Thr1926delinsArgSerSerLeuAspLeuTer)
|
|
|
NM_000051.4(ATM):c.5784dup (p.Asn1929Ter)
|
rs1131691254
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
NM_000051.4(ATM):c.5800_5803delinsATA (p.Leu1934fs)
|
|
|
NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs)
|
rs1591745745
|
|
NM_000051.4(ATM):c.5839del (p.Ser1947fs)
|
rs2136015541
|
|
NM_000051.4(ATM):c.5870_5871del (p.Tyr1957fs)
|
rs1060501657
|
|
NM_000051.4(ATM):c.5878del (p.Ile1960fs)
|
|
|
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)
|
rs201963507
|
|
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs)
|
rs587781727
|
|
NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs)
|
rs1555110517
|
|
NM_000051.4(ATM):c.5910del (p.Glu1971fs)
|
rs587782198
|
|
NM_000051.4(ATM):c.5917del (p.Arg1973fs)
|
|
|
NM_000051.4(ATM):c.5918+1G>A
|
rs1591746871
|
|
NM_000051.4(ATM):c.5918+1G>T
|
rs1591746871
|
|
NM_000051.4(ATM):c.5918+2T>C
|
|
|
NM_000051.4(ATM):c.5918+2T>G
|
|
|
NM_000051.4(ATM):c.5919-2A>G
|
rs746623393
|
|
NM_000051.4(ATM):c.5931del (p.Phe1977fs)
|
rs1565493368
|
|
NM_000051.4(ATM):c.5934del (p.Glu1979fs)
|
|
|
NM_000051.4(ATM):c.5937_5938delinsGT (p.Gly1980Ter)
|
|
|
NM_000051.4(ATM):c.5938_5939delinsA (p.Gly1980fs)
|
|
|
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)
|
rs786203404
|
|
NM_000051.4(ATM):c.5971_5979delinsA (p.Glu1991fs)
|
|
|
NM_000051.4(ATM):c.5977dup (p.Ser1993fs)
|
rs1591758642
|
|
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)
|
rs876660134
|
|
NM_000051.4(ATM):c.597T>A (p.Cys199Ter)
|
rs1565369633
|
|
NM_000051.4(ATM):c.5982del (p.Glu1995fs)
|
rs1555111855
|
|
NM_000051.4(ATM):c.5982dup (p.Glu1995fs)
|
rs1555111855
|
|
NM_000051.4(ATM):c.5991del (p.Gly1998fs)
|
rs1591758884
|
|
NM_000051.4(ATM):c.6004C>T (p.Gln2002Ter)
|
rs201136510
|
|
NM_000051.4(ATM):c.6006+1G>A
|
rs786202016
|
|
NM_000051.4(ATM):c.6006+1G>C
|
rs786202016
|
|
NM_000051.4(ATM):c.6006+1G>T
|
|
|
NM_000051.4(ATM):c.6007-1G>A
|
rs1365726807
|
|
NM_000051.4(ATM):c.6013delinsAA (p.Leu2005fs)
|
rs1555113523
|
|
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)
|
rs1438576066
|
|
NM_000051.4(ATM):c.601C>T (p.Gln201Ter)
|
rs886039666
|
|
NM_000051.4(ATM):c.6021_6022dup (p.Ile2008fs)
|
|
|
NM_000051.4(ATM):c.6022del (p.Ile2008fs)
|
|
|
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)
|
rs375783941
|
|
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)
|
rs587781302
|
|
NM_000051.4(ATM):c.6049_6052del (p.Ser2017fs)
|
rs1591776808
|
|
NM_000051.4(ATM):c.6049dup (p.Ser2017fs)
|
rs797045030
|
|
NM_000051.4(ATM):c.6055dup (p.Tyr2019fs)
|
|
|
NM_000051.4(ATM):c.6060_6064dup (p.Gly2022fs)
|
|
|
NM_000051.4(ATM):c.6063_6064insA (p.Gly2022fs)
|
|
|
NM_000051.4(ATM):c.606_609del (p.Asp203_Gly204insTer)
|
rs876658548
|
|
NM_000051.4(ATM):c.6073A>T (p.Lys2025Ter)
|
|
|
NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter)
|
rs876659454
|
|
NM_000051.4(ATM):c.6095+2T>A
|
|
|
NM_000051.4(ATM):c.6095+2T>C
|
rs1057516525
|
|
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)
|
rs532480170
|
|
NM_000051.4(ATM):c.6108T>G (p.Tyr2036Ter)
|
rs3092826
|
|
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)
|
rs864622251
|
|
NM_000051.4(ATM):c.6130A>T (p.Lys2044Ter)
|
|
|
NM_000051.4(ATM):c.6133del (p.Ala2045fs)
|
rs1555113762
|
|
NM_000051.4(ATM):c.6142del (p.Thr2048fs)
|
|
|
NM_000051.4(ATM):c.6146_6147del (p.Thr2048_Tyr2049insTer)
|
rs1565499757
|
|
NM_000051.4(ATM):c.6147T>G (p.Tyr2049Ter)
|
|
|
NM_000051.4(ATM):c.614T>A (p.Leu205Ter)
|
|
|
NM_000051.4(ATM):c.6158del (p.Thr2053fs)
|
|
|
NM_000051.4(ATM):c.6172_6176del (p.Ser2058fs)
|
|
|
NM_000051.4(ATM):c.6173del (p.Ser2057_Ser2058insTer)
|
|
|
NM_000051.4(ATM):c.6177dup (p.Arg2060fs)
|
rs1591779373
|
|
NM_000051.4(ATM):c.6181C>T (p.Gln2061Ter)
|
rs1555113845
|
|
NM_000051.4(ATM):c.6194_6197dup (p.Gln2066fs)
|
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
NM_000051.4(ATM):c.6198+2T>C
|
rs1555113882
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser)
|
rs1555114558
|
|
NM_000051.4(ATM):c.6212T>A (p.Leu2071Ter)
|
rs1591789046
|
|
NM_000051.4(ATM):c.6215del (p.Gly2072fs)
|
rs2084775383
|
|
NM_000051.4(ATM):c.621del (p.Lys208fs)
|
rs2079706212
|
|
NM_000051.4(ATM):c.6228del (p.Leu2077fs)
|
rs786203008
|
|
NM_000051.4(ATM):c.6242T>A (p.Leu2081Ter)
|
rs2136164699
|
|
NM_000051.4(ATM):c.6246del (p.Gly2083fs)
|
|
|
NM_000051.4(ATM):c.6273del (p.Trp2091fs)
|
rs1565503137
|
|
NM_000051.4(ATM):c.6280del (p.Glu2094fs)
|
rs1565503198
|
|
NM_000051.4(ATM):c.6284_6290dup (p.Glu2097fs)
|
|
|
NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter)
|
rs1555114737
|
|
NM_000051.4(ATM):c.62_63del (p.Thr21fs)
|
|
|
NM_000051.4(ATM):c.6311G>A (p.Trp2104Ter)
|
rs1064794143
|
|
NM_000051.4(ATM):c.6319dup (p.Met2107fs)
|
|
|
NM_000051.4(ATM):c.6322C>T (p.Gln2108Ter)
|
|
|
NM_000051.4(ATM):c.6323dup (p.Trp2109fs)
|
rs2136169465
|
|
NM_000051.4(ATM):c.6325dup (p.Trp2109fs)
|
rs1555114812
|
|
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter)
|
rs587782114
|
|
NM_000051.4(ATM):c.6335del (p.Cys2112fs)
|
|
|
NM_000051.4(ATM):c.6347+1G>C
|
|
|
NM_000051.4(ATM):c.6347+1G>T
|
|
|
NM_000051.4(ATM):c.6348-1G>A
|
rs1057517302
|
|
NM_000051.4(ATM):c.6348-1G>C
|
rs1057517302
|
|
NM_000051.4(ATM):c.6348-2A>G
|
rs864622367
|
|
NM_000051.4(ATM):c.6352G>T (p.Glu2118Ter)
|
|
|
NM_000051.4(ATM):c.6352del (p.Glu2118fs)
|
rs1555116357
|
|
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs)
|
rs1555116381
|
|
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)
|
rs2085078278
|
|
NM_000051.4(ATM):c.6371_6373delinsT (p.Tyr2124fs)
|
|
|
NM_000051.4(ATM):c.6383dup (p.Leu2128fs)
|
rs1198014194
|
|
NM_000051.4(ATM):c.6387C>G (p.Tyr2129Ter)
|
rs2085081161
|
|
NM_000051.4(ATM):c.6387_6388dup (p.Asn2130fs)
|
|
|
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter)
|
rs876658163
|
|
NM_000051.4(ATM):c.6399del (p.Gln2133fs)
|
rs1555116451
|
|
NM_000051.4(ATM):c.6399dup (p.Ser2134fs)
|
rs1555116451
|
|
NM_000051.4(ATM):c.639_640del (p.Ser214fs)
|
|
|
NM_000051.4(ATM):c.6401_6404del (p.Gln2133_Ser2134insTer)
|
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
NM_000051.4(ATM):c.6405_6407delinsC (p.Asp2137fs)
|
|
|
NM_000051.4(ATM):c.640del (p.Ser214fs)
|
rs786204543
|
|
NM_000051.4(ATM):c.640dup (p.Ser214fs)
|
rs786204543
|
|
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)
|
rs1339238483
|
|
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs)
|
rs863225466
|
|
NM_000051.4(ATM):c.642del (p.Lys215fs)
|
rs876660315
|
|
NM_000051.4(ATM):c.6441del (p.Lys2148fs)
|
|
|
NM_000051.4(ATM):c.6444dup (p.Tyr2149fs)
|
rs1555116533
|
|
NM_000051.4(ATM):c.6450dup (p.Arg2151fs)
|
rs2136222670
|
|
NM_000051.4(ATM):c.6452G>A (p.Arg2151Lys)
|
|
|
NM_000051.4(ATM):c.6453-1G>C
|
rs1555117071
|
|
NM_000051.4(ATM):c.6498_6499del (p.Tyr2167fs)
|
rs1060501707
|
|
NM_000051.4(ATM):c.650_653del (p.Ile217fs)
|
|
|
NM_000051.4(ATM):c.6513del (p.Thr2172fs)
|
|
|
NM_000051.4(ATM):c.6527_6530dup (p.Gln2177fs)
|
rs2085200653
|
|
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter)
|
rs766706861
|
|
NM_000051.4(ATM):c.652C>T (p.Gln218Ter)
|
rs1555066551
|
|
NM_000051.4(ATM):c.6572+1G>A
|
rs587779856
|
|
NM_000051.4(ATM):c.6572+1G>C
|
|
|
NM_000051.4(ATM):c.6572+1G>T
|
rs587779856
|
|
NM_000051.4(ATM):c.6573-1G>A
|
rs1591128291
|
|
NM_000051.4(ATM):c.6573-1G>C
|
rs1591128291
|
|
NM_000051.4(ATM):c.6573-2del
|
|
|
NM_000051.4(ATM):c.6573-9G>A
|
rs1591128179
|
|
NM_000051.4(ATM):c.6575C>G (p.Ser2192Ter)
|
rs2136306738
|
|
NM_000051.4(ATM):c.6577_6580dup (p.Thr2194fs)
|
|
|
NM_000051.4(ATM):c.6585_6586del (p.His2195fs)
|
rs1555119004
|
|
NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter)
|
rs1555119011
|
|
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer)
|
rs747057367
|
|
NM_000051.4(ATM):c.6614G>A (p.Trp2205Ter)
|
|
|
NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter)
|
rs1555119041
|
|
NM_000051.4(ATM):c.662+1G>A
|
rs1060501690
|
|
NM_000051.4(ATM):c.6628del (p.Gln2210fs)
|
rs886039616
|
|
NM_000051.4(ATM):c.6633dup (p.Leu2212fs)
|
|
|
NM_000051.4(ATM):c.6635_6636del (p.Leu2212fs)
|
rs768909644
|
|
NM_000051.4(ATM):c.6638del (p.Lys2213fs)
|
|
|
NM_000051.4(ATM):c.664C>T (p.Gln222Ter)
|
rs1555066917
|
|
NM_000051.4(ATM):c.6650_6657del (p.Phe2217fs)
|
rs864622326
|
|
NM_000051.4(ATM):c.6651dup (p.Ser2218Ter)
|
|
|
NM_000051.4(ATM):c.6657del (p.Gln2220fs)
|
rs876658603
|
|
NM_000051.4(ATM):c.6661_6673del (p.Glu2221fs)
|
|
|
NM_000051.4(ATM):c.6667_6701del (p.Ile2223fs)
|
|
|
NM_000051.4(ATM):c.6671dup (p.Met2224fs)
|
|
|
NM_000051.4(ATM):c.6673dup (p.Ala2225fs)
|
rs587781872
|
|
NM_000051.4(ATM):c.6684dup (p.Val2229fs)
|
|
|
NM_000051.4(ATM):c.6695del (p.Glu2232fs)
|
|
|
NM_000051.4(ATM):c.669_673del (p.Lys224fs)
|
|
|
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs)
|
rs1591129337
|
|
NM_000051.4(ATM):c.6718del (p.Asp2240fs)
|
|
|
NM_000051.4(ATM):c.6727C>T (p.Gln2243Ter)
|
rs1565518711
|
|
NM_000051.4(ATM):c.6730dup (p.Arg2244fs)
|
rs1060501543
|
|
NM_000051.4(ATM):c.6733_6734del (p.Glu2245fs)
|
|
|
NM_000051.4(ATM):c.6742A>T (p.Lys2248Ter)
|
|
|
NM_000051.4(ATM):c.6743del (p.Lys2248fs)
|
|
|
NM_000051.4(ATM):c.6747del (p.Asp2249fs)
|
|
|
NM_000051.4(ATM):c.6752_6755dup (p.Lys2253fs)
|
rs863224461
|
|
NM_000051.4(ATM):c.6776_6777del (p.Ser2259fs)
|
rs1131691156
|
|
NM_000051.4(ATM):c.6805C>T (p.Gln2269Ter)
|
rs2085584895
|
|
NM_000051.4(ATM):c.6807+1G>A
|
|
|
NM_000051.4(ATM):c.6807+1G>T
|
|
|
NM_000051.4(ATM):c.6807+2T>C
|
rs2136319469
|
|
NM_000051.4(ATM):c.6807+2_6807+14del
|
|
|
NM_000051.4(ATM):c.680C>G (p.Ser227Ter)
|
rs762998620
|
|
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)
|
rs1565520117
|
|
NM_000051.4(ATM):c.681dup (p.Gly228fs)
|
rs1591503359
|
|
NM_000051.4(ATM):c.6829del (p.Gln2277fs)
|
rs2136332132
|
|
NM_000051.4(ATM):c.6834_6838del (p.Lys2279fs)
|
|
|
NM_000051.4(ATM):c.6838C>T (p.Gln2280Ter)
|
rs1565520246
|
|
NM_000051.4(ATM):c.6838_6839dup (p.Gln2280fs)
|
rs2136332542
|
|
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
|
|
|
NM_000051.4(ATM):c.6843C>G (p.Tyr2281Ter)
|
rs1555119797
|
|
NM_000051.4(ATM):c.684_687delinsCCT (p.Asn230fs)
|
rs2135237416
|
|
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)
|
rs1555119834
|
|
NM_000051.4(ATM):c.6869_6879del (p.Glu2290fs)
|
|
|
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter)
|
rs2136334561
|
|
NM_000051.4(ATM):c.6874C>T (p.Gln2292Ter)
|
|
|
NM_000051.4(ATM):c.6880del (p.Glu2294fs)
|
|
|
NM_000051.4(ATM):c.6886del (p.Ala2296fs)
|
|
|
NM_000051.4(ATM):c.6889C>T (p.Gln2297Ter)
|
|
|
NM_000051.4(ATM):c.6889dup (p.Gln2297fs)
|
|
|
NM_000051.4(ATM):c.6894del (p.Phe2299fs)
|
|
|
NM_000051.4(ATM):c.689del (p.Asn230fs)
|
rs1057518965
|
|
NM_000051.4(ATM):c.6900G>A (p.Trp2300Ter)
|
|
|
NM_000051.4(ATM):c.6908dup (p.Glu2304fs)
|
rs773570504
|
|
NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter)
|
rs1282099124
|
|
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)
|
rs878853535
|
|
NM_000051.4(ATM):c.6975+1G>A
|
rs1565521129
|
|
NM_000051.4(ATM):c.6975+2T>C
|
rs879254199
|
|
NM_000051.4(ATM):c.6975G>C (p.Ala2325=)
|
rs556778314
|
|
NM_000051.4(ATM):c.6976-10_6989del
|
rs587779859
|
|
NM_000051.4(ATM):c.6976-1G>T
|
rs1591141963
|
|
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs)
|
rs786203421
|
|
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs)
|
rs864622416
|
|
NM_000051.4(ATM):c.7011_7012delinsAA (p.Cys2337_Leu2338delinsTer)
|
|
|
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs)
|
rs1591142418
|
|
NM_000051.4(ATM):c.7013dup (p.Arg2339fs)
|
|
|
NM_000051.4(ATM):c.7015_7031del (p.Arg2339fs)
|
|
|
NM_000051.4(ATM):c.7030_7043del (p.Trp2344fs)
|
|
|
NM_000051.4(ATM):c.704del (p.Ala235fs)
|
rs1591503565
|
|
NM_000051.4(ATM):c.7066_7081del (p.Val2355_Ile2356insTer)
|
rs886039502
|
|
NM_000051.4(ATM):c.7069_7081del (p.Ile2356_Met2357insTer)
|
|
|
NM_000051.4(ATM):c.706_707del (p.Leu236fs)
|
|
|
NM_000051.4(ATM):c.706dup (p.Leu236fs)
|
rs2135238203
|
|
NM_000051.4(ATM):c.7076_7085del (p.Thr2359fs)
|
|
|
NM_000051.4(ATM):c.7077_7078dup (p.Tyr2360fs)
|
rs2136379109
|
|
NM_000051.4(ATM):c.7088del (p.Lys2363fs)
|
rs876658512
|
|
NM_000051.4(ATM):c.7089+1G>A
|
rs777741666
|
|
NM_000051.4(ATM):c.7089+1G>T
|
rs777741666
|
|
NM_000051.4(ATM):c.708del (p.Thr237fs)
|
rs1555067034
|
|
NM_000051.4(ATM):c.7090-1G>A
|
|
|
NM_000051.4(ATM):c.7090-2A>T
|
|
|
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)
|
rs587781672
|
|
NM_000051.4(ATM):c.710del (p.Thr237fs)
|
rs1060501642
|
|
NM_000051.4(ATM):c.7115del (p.Asp2372fs)
|
|
|
NM_000051.4(ATM):c.7152_7159del (p.Met2384fs)
|
|
|
NM_000051.4(ATM):c.7166C>A (p.Ser2389Ter)
|
rs1018140779
|
|
NM_000051.4(ATM):c.7169T>A (p.Leu2390Ter)
|
|
|
NM_000051.4(ATM):c.717_720del (p.Phe239fs)
|
rs587782660
|
|
NM_000051.4(ATM):c.7187_7190del (p.Thr2396fs)
|
|
|
NM_000051.4(ATM):c.7195C>T (p.Gln2399Ter)
|
rs2085985186
|
|
NM_000051.4(ATM):c.71del (p.Lys24fs)
|
|
|
NM_000051.4(ATM):c.72+2T>C
|
rs1591446206
|
|
NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter)
|
rs1555122149
|
|
NM_000051.4(ATM):c.7221del (p.Ser2408fs)
|
|
|
NM_000051.4(ATM):c.7240C>T (p.Gln2414Ter)
|
rs863224462
|
|
NM_000051.4(ATM):c.7241_7244del (p.Gln2414fs)
|
rs1591151678
|
|
NM_000051.4(ATM):c.7267_7270delinsTAC (p.Glu2423fs)
|
rs1591152021
|
|
NM_000051.4(ATM):c.728dup (p.Leu243fs)
|
rs2135238938
|
|
NM_000051.4(ATM):c.7297del (p.Gln2433fs)
|
rs2136423753
|
|
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs)
|
rs886039628
|
|
NM_000051.4(ATM):c.7299del (p.Thr2434fs)
|
|
|
NM_000051.4(ATM):c.73-1G>A
|
rs1555054043
|
|
NM_000051.4(ATM):c.7307+1G>A
|
rs2086003529
|
|
NM_000051.4(ATM):c.7308-14T>G
|
|
|
NM_000051.4(ATM):c.7308-1G>C
|
rs1555122941
|
|
NM_000051.4(ATM):c.7308-2A>C
|
rs1555122938
|
|
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)
|
rs763470424
|
|
NM_000051.4(ATM):c.7311C>G (p.Tyr2437Ter)
|
|
|
NM_000051.4(ATM):c.7311_7314del (p.Arg2436_Tyr2437insTer)
|
rs1591159614
|
|
NM_000051.4(ATM):c.7318A>T (p.Lys2440Ter)
|
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.7331_7332del (p.Glu2444fs)
|
|
|
NM_000051.4(ATM):c.7349T>A (p.Leu2450Ter)
|
|
|
NM_000051.4(ATM):c.7349T>G (p.Leu2450Ter)
|
|
|
NM_000051.4(ATM):c.7368del (p.Glu2457fs)
|
|
|
NM_000051.4(ATM):c.7372del (p.Asp2458fs)
|
|
|
NM_000051.4(ATM):c.7391_7412del (p.Cys2464fs)
|
rs1064794690
|
|
NM_000051.4(ATM):c.7406dup (p.Asn2469fs)
|
rs2086123262
|
|
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)
|
rs876659365
|
|
NM_000051.4(ATM):c.7410T>G (p.Tyr2470Ter)
|
|
|
NM_000051.4(ATM):c.741dup (p.Arg248fs)
|
rs1131691161
|
|
NM_000051.4(ATM):c.7437del (p.Glu2479fs)
|
|
|
NM_000051.4(ATM):c.7450dup (p.Val2484fs)
|
|
|
NM_000051.4(ATM):c.7457_7467del (p.Arg2486fs)
|
|
|
NM_000051.4(ATM):c.7465_7466del (p.Ser2489fs)
|
rs786203734
|
|
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)
|
rs772821016
|
|
NM_000051.4(ATM):c.7495G>T (p.Glu2499Ter)
|
rs2136463344
|
|
NM_000051.4(ATM):c.7515+1G>A
|
rs1591161831
|
|
NM_000051.4(ATM):c.7515+1G>C
|
|
|
NM_000051.4(ATM):c.7515+1G>T
|
rs1591161831
|
|
NM_000051.4(ATM):c.7516-1G>A
|
|
|
NM_000051.4(ATM):c.7516-2A>G
|
|
|
NM_000051.4(ATM):c.7517_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.7519_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.7542T>A (p.Tyr2514Ter)
|
rs777925486
|
|
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer)
|
rs1555123981
|
|
NM_000051.4(ATM):c.7550_7551del (p.Leu2517fs)
|
|
|
NM_000051.4(ATM):c.7563C>G (p.Tyr2521Ter)
|
rs772228129
|
|
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs876659003
|
|
NM_000051.4(ATM):c.7575dup (p.Arg2526Ter)
|
|
|
NM_000051.4(ATM):c.7584del (p.Thr2529fs)
|
|
|
NM_000051.4(ATM):c.75_78del
|
rs1565344409
|
|
NM_000051.4(ATM):c.7608del (p.His2538fs)
|
rs1565532554
|
|
NM_000051.4(ATM):c.7626del (p.Asn2542fs)
|
|
|
NM_000051.4(ATM):c.7629+1G>A
|
rs1565532703
|
|
NM_000051.4(ATM):c.7629+1del
|
|
|
NM_000051.4(ATM):c.7629+2T>G
|
|
|
NM_000051.4(ATM):c.7629_7629+1delinsA
|
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000051.4(ATM):c.7630-1G>A
|
rs2086285148
|
|
NM_000051.4(ATM):c.7630-1G>C
|
|
|
NM_000051.4(ATM):c.7630-2A>G
|
rs587779866
|
|
NM_000051.4(ATM):c.7636del (p.Ser2546fs)
|
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.7665delinsGTGA (p.His2555delinsGlnTer)
|
rs1555124503
|
|
NM_000051.4(ATM):c.7670T>A (p.Leu2557Ter)
|
rs2086293039
|
|
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)
|
rs1555124506
|
|
NM_000051.4(ATM):c.7684_7685del (p.Ala2562fs)
|
|
|
NM_000051.4(ATM):c.7694dup (p.Asn2565fs)
|
rs1591171790
|
|
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)
|
rs1060501547
|
|
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)
|
rs759965045
|
|
NM_000051.4(ATM):c.7705del (p.Asp2569fs)
|
rs2136522117
|
|
NM_000051.4(ATM):c.7708G>T (p.Glu2570Ter)
|
rs1555124587
|
|
NM_000051.4(ATM):c.7720_7729del (p.Thr2573_Lys2574insTer)
|
|
|
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter)
|
rs2086308918
|
|
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter)
|
rs1591172641
|
|
NM_000051.4(ATM):c.7767del (p.Lys2589fs)
|
rs1057517025
|
|
NM_000051.4(ATM):c.777del (p.Thr261fs)
|
|
|
NM_000051.4(ATM):c.7783_7788+28del
|
|
|
NM_000051.4(ATM):c.7788+1G>C
|
rs1565534524
|
|
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)
|
rs587780639
|
|
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp)
|
rs587780639
|
|
NM_000051.4(ATM):c.7788G>T (p.Glu2596Asp)
|
rs587780639
|
|
NM_000051.4(ATM):c.7789-3T>G
|
rs864622185
|
|
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)
|
rs138941496
|
|
NM_000051.4(ATM):c.7793_7798delinsCC (p.Arg2598fs)
|
|
|
NM_000051.4(ATM):c.7799_7800del (p.Glu2600fs)
|
|
|
NM_000051.4(ATM):c.7811_7815dup (p.Ile2606delinsGluTer)
|
|
|
NM_000051.4(ATM):c.7829_7830del (p.Arg2610fs)
|
rs2086410142
|
|
NM_000051.4(ATM):c.7831_7835del (p.Ser2611fs)
|
rs1591178362
|
|
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs)
|
rs730881293
|
|
NM_000051.4(ATM):c.7845_7846del (p.Gln2615fs)
|
|
|
NM_000051.4(ATM):c.7858del (p.Val2620fs)
|
rs1555125349
|
|
NM_000051.4(ATM):c.785T>A (p.Leu262Ter)
|
rs864622163
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
NM_000051.4(ATM):c.7880del (p.Tyr2627fs)
|
rs1057516599
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
NM_000051.4(ATM):c.7889T>A (p.Leu2630Ter)
|
rs1591178998
|
|
NM_000051.4(ATM):c.7889T>G (p.Leu2630Ter)
|
|
|
NM_000051.4(ATM):c.7903dup (p.Ala2635fs)
|
|
|
NM_000051.4(ATM):c.790del (p.Tyr264fs)
|
rs587781978
|
|
NM_000051.4(ATM):c.7915A>T (p.Lys2639Ter)
|
rs2136572656
|
|
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter)
|
rs769523686
|
|
NM_000051.4(ATM):c.7925_7926del (p.Arg2642fs)
|
|
|
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)
|
rs863224440
|
|
NM_000051.4(ATM):c.7927+5G>A
|
rs1299306446
|
|
NM_000051.4(ATM):c.7929delA (p.Gly2644fs)
|
rs1064795550
|
|
NM_000051.4(ATM):c.7943del (p.Pro2648fs)
|
|
|
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)
|
rs587781994
|
|
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del)
|
rs876660743
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
NM_000051.4(ATM):c.7998dup (p.Met2667fs)
|
rs587779869
|
|
NM_000051.4(ATM):c.8010+1G>C
|
|
|
NM_000051.4(ATM):c.8010+1del
|
rs876659350
|
|
NM_000051.4(ATM):c.8010+2T>C
|
rs1591184927
|
|
NM_000051.4(ATM):c.8010+2T>G
|
|
|
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)
|
rs557012154
|
|
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys)
|
rs28942103
|
|
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs)
|
rs587780640
|
|
NM_000051.4(ATM):c.8043dup (p.Thr2682fs)
|
rs2086672570
|
|
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter)
|
rs1555127102
|
|
NM_000051.4(ATM):c.8050_8051del (p.Gln2684fs)
|
rs2086675006
|
|
NM_000051.4(ATM):c.8051del (p.Gln2684fs)
|
|
|
NM_000051.4(ATM):c.8051dup (p.Ser2685fs)
|
rs1591191449
|
|
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs)
|
rs1591191412
|
|
NM_000051.4(ATM):c.8054_8093dup (p.Leu2698delinsPheIleTer)
|
|
|
NM_000051.4(ATM):c.805dup (p.His269fs)
|
|
|
NM_000051.4(ATM):c.8076dup (p.Ala2693fs)
|
rs1555127151
|
|
NM_000051.4(ATM):c.807dup (p.Arg270Ter)
|
|
|
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)
|
rs758588019
|
|
NM_000051.4(ATM):c.8101dup (p.Ile2701fs)
|
rs2086682689
|
|
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs)
|
rs1064793406
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000051.4(ATM):c.8127del (p.Lys2710fs)
|
rs1591192266
|
|
NM_000051.4(ATM):c.8135_8139del (p.Arg2712fs)
|
rs2136663735
|
|
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter)
|
rs1060501695
|
|
NM_000051.4(ATM):c.8148_8151+2del
|
rs1565541335
|
|
NM_000051.4(ATM):c.8149A>T (p.Lys2717Ter)
|
rs774334667
|
|
NM_000051.4(ATM):c.8150A>G (p.Lys2717Arg)
|
rs1555127353
|
|
NM_000051.4(ATM):c.8151+1G>A
|
rs1591192583
|
|
NM_000051.4(ATM):c.8152-1G>A
|
rs1398616877
|
|
NM_000051.4(ATM):c.8152-1G>C
|
rs1398616877
|
|
NM_000051.4(ATM):c.8152-1G>T
|
rs1398616877
|
|
NM_000051.4(ATM):c.8152-2A>G
|
rs777602049
|
|
NM_000051.4(ATM):c.8155del (p.Arg2719fs)
|
|
|
NM_000051.4(ATM):c.8161_8163delinsAG (p.Asp2721fs)
|
|
|
NM_000051.4(ATM):c.8182dup (p.Met2728fs)
|
rs2136693800
|
|
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)
|
rs587781967
|
|
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs)
|
rs1555128432
|
|
NM_000051.4(ATM):c.8225del (p.Asn2742fs)
|
|
|
NM_000051.4(ATM):c.8230_8231delinsT (p.Thr2743_Glu2744insTer)
|
|
|
NM_000051.4(ATM):c.8240dup (p.Arg2748fs)
|
rs1591199097
|
|
NM_000051.4(ATM):c.8248_8268del (p.Leu2750_Lys2756del)
|
rs771146489
|
|
NM_000051.4(ATM):c.8249_8258delinsCAAATAGT (p.Leu2750fs)
|
|
|
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)
|
rs864622389
|
|
NM_000051.4(ATM):c.8251_8254del (p.Thr2751fs)
|
rs786202120
|
|
NM_000051.4(ATM):c.8264dup (p.Tyr2755Ter)
|
|
|
NM_000051.4(ATM):c.8265T>A (p.Tyr2755Ter)
|
rs758654836
|
|
NM_000051.4(ATM):c.8265T>G (p.Tyr2755Ter)
|
rs758654836
|
|
NM_000051.4(ATM):c.8265del (p.Thr2754_Tyr2755insTer)
|
|
|
NM_000051.4(ATM):c.8268+1G>A
|
rs876658957
|
|
NM_000051.4(ATM):c.8268+1G>T
|
rs876658957
|
|
NM_000051.4(ATM):c.8269-1G>A
|
|
|
NM_000051.4(ATM):c.8274del (p.Leu2760fs)
|
|
|
NM_000051.4(ATM):c.8281_8284del (p.Gln2762fs)
|
rs775899653
|
|
NM_000051.4(ATM):c.8283_8284del (p.Gln2762fs)
|
rs775899653
|
|
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter)
|
rs876659872
|
|
NM_000051.4(ATM):c.8288del (p.Arg2763fs)
|
rs886039630
|
|
NM_000051.4(ATM):c.8291dup (p.Ser2764fs)
|
|
|
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs)
|
rs879254036
|
|
NM_000051.4(ATM):c.8319_8323dup (p.Pro2775fs)
|
rs1555135596
|
|
NM_000051.4(ATM):c.8325del (p.Ile2776fs)
|
rs886039623
|
|
NM_000051.4(ATM):c.8332G>T (p.Glu2778Ter)
|
|
|
NM_000051.4(ATM):c.8343del (p.Asn2782fs)
|
|
|
NM_000051.4(ATM):c.8367delinsTT (p.Lys2789fs)
|
rs786202418
|
|
NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs)
|
rs1064793046
|
|
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)
|
rs1060504292
|
|
NM_000051.4(ATM):c.8373C>G (p.Tyr2791Ter)
|
rs1060504292
|
|
NM_000051.4(ATM):c.8376del (p.Arg2792fs)
|
|
|
NM_000051.4(ATM):c.8381_8382delinsC (p.Asn2794fs)
|
|
|
NM_000051.4(ATM):c.8387_8397del (p.Phe2796fs)
|
|
|
NM_000051.4(ATM):c.8387del (p.Phe2796fs)
|
|
|
NM_000051.4(ATM):c.8394_8396delinsTGATA (p.Phe2799fs)
|
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8397del (p.Gln2800fs)
|
rs587781837
|
|
NM_000051.4(ATM):c.8403C>A (p.Cys2801Ter)
|
rs1555135852
|
|
NM_000051.4(ATM):c.8408del (p.Lys2803fs)
|
rs1591249359
|
|
NM_000051.4(ATM):c.8416_8418+5del
|
rs1591249480
|
|
NM_000051.4(ATM):c.8418+1G>A
|
rs766533795
|
|
NM_000051.4(ATM):c.8418+1_8418+3del
|
rs2136953867
|
|
NM_000051.4(ATM):c.8418+2T>C
|
rs1060501713
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8418G>T (p.Met2806Ile)
|
rs762744146
|
|
NM_000051.4(ATM):c.8419-2A>C
|
rs1555137917
|
|
NM_000051.4(ATM):c.8419G>T (p.Glu2807Ter)
|
rs1555137929
|
|
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)
|
rs1555137973
|
|
NM_000051.4(ATM):c.8431A>T (p.Lys2811Ter)
|
rs1131691158
|
|
NM_000051.4(ATM):c.8431_8432del (p.Lys2811fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8432del (p.Lys2811fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8432dup (p.Ser2812fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs)
|
rs767533596
|
|
NM_000051.4(ATM):c.8440G>T (p.Glu2814Ter)
|
|
|
NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter)
|
rs2137026687
|
|
NM_000051.4(ATM):c.8457del (p.Phe2820fs)
|
|
|
NM_000051.4(ATM):c.8466_8479delinsC (p.Val2823fs)
|
|
|
NM_000051.4(ATM):c.8472C>A (p.Cys2824Ter)
|
|
|
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)
|
rs587781363
|
|
NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs)
|
rs786203272
|
|
NM_000051.4(ATM):c.8477dup (p.Asn2826fs)
|
|
|
NM_000051.4(ATM):c.8482C>T (p.Gln2828Ter)
|
rs1555138125
|
|
NM_000051.4(ATM):c.8484del (p.Gln2828fs)
|
rs1565563579
|
|
NM_000051.4(ATM):c.8492del (p.Phe2831fs)
|
|
|
NM_000051.4(ATM):c.8504dup (p.Cys2835fs)
|
rs2137031805
|
|
NM_000051.4(ATM):c.8508delinsTTT (p.Met2836fs)
|
|
|
NM_000051.4(ATM):c.850C>T (p.Gln284Ter)
|
rs757782702
|
|
NM_000051.4(ATM):c.8517_8518del (p.Leu2840fs)
|
|
|
NM_000051.4(ATM):c.8531_8534del (p.Ile2844fs)
|
|
|
NM_000051.4(ATM):c.8551_8554dup (p.Tyr2852fs)
|
rs2088299549
|
|
NM_000051.4(ATM):c.8555dup (p.Tyr2852Ter)
|
|
|
NM_000051.4(ATM):c.855del (p.Gln286fs)
|
rs1555067251
|
|
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg)
|
rs780905851
|
|
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle)
|
rs587781353
|
|
NM_000051.4(ATM):c.856C>T (p.Gln286Ter)
|
rs2135242925
|
|
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del)
|
rs786203976
|
|
NM_000051.4(ATM):c.8584+1G>C
|
rs876658182
|
|
NM_000051.4(ATM):c.8584+2T>A
|
|
|
NM_000051.4(ATM):c.8585-13_8598del
|
rs1555139443
|
|
NM_000051.4(ATM):c.8585-1G>A
|
rs876660066
|
|
NM_000051.4(ATM):c.8585-2A>C
|
rs1060501700
|
|
NM_000051.4(ATM):c.8585-2A>G
|
rs1060501700
|
|
NM_000051.4(ATM):c.8622_8624delinsTT (p.Gln2874fs)
|
|
|
NM_000051.4(ATM):c.8624del (p.Asn2875fs)
|
|
|
NM_000051.4(ATM):c.8624dup (p.Asn2875fs)
|
rs876660411
|
|
NM_000051.4(ATM):c.8628_8629del (p.Leu2877fs)
|
|
|
NM_000051.4(ATM):c.8630T>A (p.Leu2877Ter)
|
|
|
NM_000051.4(ATM):c.8652dup (p.Leu2885fs)
|
rs2088559453
|
|
NM_000051.4(ATM):c.8655dup (p.Val2886fs)
|
rs753961188
|
|
NM_000051.4(ATM):c.8659_8662del (p.Val2886_His2887insTer)
|
|
|
NM_000051.4(ATM):c.8671+1G>C
|
|
|
NM_000051.4(ATM):c.8671+1G>T
|
rs1555139694
|
|
NM_000051.4(ATM):c.8671+2del
|
|
|
NM_000051.4(ATM):c.8672-14_8675del
|
|
|
NM_000051.4(ATM):c.8672-1G>A
|
rs876660088
|
|
NM_000051.4(ATM):c.8676dup (p.Ala2893fs)
|
rs2089492486
|
|
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter)
|
rs1565579084
|
|
NM_000051.4(ATM):c.8683G>T (p.Glu2895Ter)
|
|
|
NM_000051.4(ATM):c.8686C>T (p.Gln2896Ter)
|
rs2137286457
|
|
NM_000051.4(ATM):c.8695dup (p.Ile2899fs)
|
rs1555142816
|
|
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly)
|
rs786202826
|
|
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)
|
rs1555142845
|
|
NM_000051.4(ATM):c.8731dup (p.Thr2911fs)
|
rs2137291352
|
|
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr)
|
rs756899044
|
|
NM_000051.4(ATM):c.8764_8768delinsTGTC (p.Gly2922fs)
|
|
|
NM_000051.4(ATM):c.877A>T (p.Lys293Ter)
|
rs1057516442
|
|
NM_000051.4(ATM):c.8786+1G>C
|
rs17174393
|
|
NM_000051.4(ATM):c.8786+2T>A
|
rs1555142918
|
|
NM_000051.4(ATM):c.8786_8786+3del
|
rs1060501569
|
|
NM_000051.4(ATM):c.8787-1G>C
|
rs1591313869
|
|
NM_000051.4(ATM):c.8787-2A>G
|
rs2089688512
|
|
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter)
|
rs1555143494
|
|
NM_000051.4(ATM):c.879del (p.Gly294fs)
|
|
|
NM_000051.4(ATM):c.8802del (p.Met2935fs)
|
rs876660567
|
|
NM_000051.4(ATM):c.8818_8821dup (p.Ser2941Ter)
|
rs876658959
|
|
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs)
|
rs1555143538
|
|
NM_000051.4(ATM):c.8824_8834del (p.Gln2942fs)
|
rs2089695236
|
|
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs)
|
rs786203030
|
|
NM_000051.4(ATM):c.8834dup (p.Leu2946fs)
|
|
|
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs)
|
rs786202547
|
|
NM_000051.4(ATM):c.8848_8850+3del
|
rs2137353827
|
|
NM_000051.4(ATM):c.8850+1G>T
|
|
|
NM_000051.4(ATM):c.8850+2T>A
|
|
|
NM_000051.4(ATM):c.8850+2T>C
|
rs1555143623
|
|
NM_000051.4(ATM):c.8851-1G>C
|
rs1057516537
|
|
NM_000051.4(ATM):c.8851-1G>T
|
rs1057516537
|
|
NM_000051.4(ATM):c.8851-4_8852del
|
rs2091196613
|
|
NM_000051.4(ATM):c.8857_8858del (p.Leu2953fs)
|
rs2091198449
|
|
NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer)
|
rs864622669
|
|
NM_000051.4(ATM):c.8874dup (p.Asp2959Ter)
|
rs864622669
|
|
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)
|
rs786204726
|
|
NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter)
|
rs1131691149
|
|
NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter)
|
rs1060501650
|
|
NM_000051.4(ATM):c.8903T>A (p.Leu2968Ter)
|
rs1555151315
|
|
NM_000051.4(ATM):c.8909del (p.Leu2970fs)
|
|
|
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)
|
rs1565607653
|
|
NM_000051.4(ATM):c.8923del (p.Glu2975fs)
|
rs2137879945
|
|
NM_000051.4(ATM):c.8925_8928dup (p.Glu2977delinsArgTer)
|
rs1555151395
|
|
NM_000051.4(ATM):c.8934_8935del (p.Glu2979fs)
|
rs2137881586
|
|
NM_000051.4(ATM):c.8940dup (p.His2981fs)
|
|
|
NM_000051.4(ATM):c.8942del (p.His2981fs)
|
rs786203489
|
|
NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter)
|
rs147695170
|
|
NM_000051.4(ATM):c.8967del (p.Glu2990fs)
|
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000051.4(ATM):c.8987+1G>C
|
rs786203631
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000051.4(ATM):c.8988-2A>G
|
rs786202087
|
|
NM_000051.4(ATM):c.8del (p.Leu3fs)
|
rs879254052
|
|
NM_000051.4(ATM):c.9001_9002del (p.Ser3001fs)
|
rs876660022
|
|
NM_000051.4(ATM):c.9005del (p.Phe3002fs)
|
rs876659235
|
|
NM_000051.4(ATM):c.9007_9034del (p.Asn3003fs)
|
rs2137906600
|
|
NM_000051.4(ATM):c.900del (p.Gly301fs)
|
rs1555067335
|
|
NM_000051.4(ATM):c.900dup (p.Gly301fs)
|
rs1555067335
|
|
NM_000051.4(ATM):c.901+1G>C
|
rs748840480
|
|
NM_000051.4(ATM):c.901+1G>T
|
rs748840480
|
|
NM_000051.4(ATM):c.901+1_901+26del
|
rs1380265721
|
|
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)
|
rs876660382
|
|
NM_000051.4(ATM):c.902-1G>A
|
rs1064793518
|
|
NM_000051.4(ATM):c.9021dup (p.Arg3008fs)
|
rs876660235
|
|
NM_000051.4(ATM):c.9039dup (p.Gln3014fs)
|
rs879253972
|
|
NM_000051.4(ATM):c.9040C>T (p.Gln3014Ter)
|
rs2137911487
|
|
NM_000051.4(ATM):c.9045_9052dup (p.Lys3018delinsArgAsnTer)
|
rs1555151827
|
|
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)
|
rs587782847
|
|
NM_000051.4(ATM):c.9051del (p.Gly3019fs)
|
|
|
NM_000051.4(ATM):c.9061G>T (p.Glu3021Ter)
|
rs2091244384
|
|
NM_000051.4(ATM):c.9064dup (p.Glu3022fs)
|
rs1057516282
|
|
NM_000051.4(ATM):c.9073del (p.Val3025fs)
|
rs1555151928
|
|
NM_000051.4(ATM):c.9073dup (p.Val3025fs)
|
rs2137916728
|
|
NM_000051.4(ATM):c.9079_9080del (p.Ser3027fs)
|
rs1591387609
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
NM_000051.4(ATM):c.9086_9096del (p.Gly3029fs)
|
rs2137919004
|
|
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)
|
rs2091249987
|
|
NM_000051.4(ATM):c.9108dup (p.Gln3037fs)
|
|
|
NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter)
|
rs1555152009
|
|
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter)
|
rs1591387978
|
|
NM_000051.4(ATM):c.9112del (p.Gln3038fs)
|
rs587779878
|
|
NM_000051.4(ATM):c.9132del (p.Leu3045fs)
|
|
|
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs)
|
rs1555152058
|
|
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)
|
|
|
NM_000051.4(ATM):c.9169T>C (p.Ter3057Arg)
|
rs2091262473
|
|
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly)
|
rs2091262473
|
|
NM_000051.4(ATM):c.9170G>C (p.Ter3057Ser)
|
rs2091262802
|
|
NM_000051.4(ATM):c.9171A>G (p.Ter3057Trp)
|
|
|
NM_000051.4(ATM):c.933_951del (p.Leu312fs)
|
|
|
NM_000051.4(ATM):c.944del (p.Leu315fs)
|
rs1565375035
|
|
NM_000051.4(ATM):c.947_948del (p.Leu315_Tyr316insTer)
|
rs2135265742
|
|
NM_000051.4(ATM):c.975del (p.His325fs)
|
rs2079883068
|
|
NM_000051.4(ATM):c.977_978del (p.Ile326fs)
|
rs876658832
|
|
NM_000051.4(ATM):c.979G>T (p.Gly327Ter)
|
|
|
NM_000051.4(ATM):c.988G>T (p.Gly330Ter)
|
|
|
NM_000051.4(ATM):c.992del (p.Lys331fs)
|
rs1060501684
|
|
NM_000051.4(ATM):c.995_996del (p.Tyr332fs)
|
|
|
NM_000465.4(BARD1):c.1002del (p.Arg335fs)
|
rs1694972839
|
|
NM_000465.4(BARD1):c.100dup (p.Trp34fs)
|
rs1553628410
|
|
NM_000465.4(BARD1):c.101G>A (p.Trp34Ter)
|
|
|
NM_000465.4(BARD1):c.1021dup (p.Leu341fs)
|
rs1553622300
|
|
NM_000465.4(BARD1):c.1023del (p.Ser342fs)
|
rs876660061
|
|
NM_000465.4(BARD1):c.102G>A (p.Trp34Ter)
|
rs879254280
|
|
NM_000465.4(BARD1):c.1037dup (p.Asp346fs)
|
|
|
NM_000465.4(BARD1):c.103del (p.Ala35fs)
|
|
|
NM_000465.4(BARD1):c.103dup (p.Ala35fs)
|
|
|
NM_000465.4(BARD1):c.1048C>T (p.Gln350Ter)
|
rs2106109048
|
|
NM_000465.4(BARD1):c.105_135del (p.His36fs)
|
|
|
NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter)
|
rs786202559
|
|
NM_000465.4(BARD1):c.1069del (p.Ile357fs)
|
|
|
NM_000465.4(BARD1):c.1069dup (p.Ile357fs)
|
rs2106108903
|
|
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)
|
rs28997575
|
|
NM_000465.4(BARD1):c.1086T>A (p.Cys362Ter)
|
|
|
NM_000465.4(BARD1):c.1124del (p.Thr375fs)
|
|
|
NM_000465.4(BARD1):c.1126T>G (p.Ser376Ala)
|
rs1060501279
|
|
NM_000465.4(BARD1):c.1134_1136delinsC (p.Arg378fs)
|
|
|
NM_000465.4(BARD1):c.1137A>C (p.Lys379Asn)
|
rs1060501306
|
|
NM_000465.4(BARD1):c.1139del (p.Asn380fs)
|
|
|
NM_000465.4(BARD1):c.1156G>T (p.Glu386Ter)
|
rs1553622218
|
|
NM_000465.4(BARD1):c.1168_1169insG (p.Leu390fs)
|
|
|
NM_000465.4(BARD1):c.1187_1196delinsTTG (p.Pro396fs)
|
rs1694949382
|
|
NM_000465.4(BARD1):c.1194del (p.Thr398_Leu399insTer)
|
|
|
NM_000465.4(BARD1):c.1196T>G (p.Leu399Ter)
|
rs1172609046
|
|
NM_000465.4(BARD1):c.1210del (p.Tyr404fs)
|
rs1694947319
|
|
NM_000465.4(BARD1):c.1211dup (p.Tyr404Ter)
|
rs1553622178
|
|
NM_000465.4(BARD1):c.1224_1227del (p.Met408fs)
|
rs1553622164
|
|
NM_000465.4(BARD1):c.1227_1231del (p.Ser410fs)
|
rs1553622160
|
|
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer)
|
rs1553622145
|
|
NM_000465.4(BARD1):c.1250del (p.Leu417fs)
|
|
|
NM_000465.4(BARD1):c.1255_1256del (p.Asn419fs)
|
|
|
NM_000465.4(BARD1):c.1264_1267delinsATG (p.Val422fs)
|
rs786203533
|
|
NM_000465.4(BARD1):c.1270del (p.Arg424fs)
|
rs876660911
|
|
NM_000465.4(BARD1):c.1281_1284del (p.Gly428fs)
|
rs1553622103
|
|
NM_000465.4(BARD1):c.1291_1292del (p.Leu431fs)
|
|
|
NM_000465.4(BARD1):c.1306_1314+7del
|
rs1694934695
|
|
NM_000465.4(BARD1):c.1307_1310del (p.Ser436fs)
|
rs1574815812
|
|
NM_000465.4(BARD1):c.1307_1314+11del
|
|
|
NM_000465.4(BARD1):c.1314+1G>A
|
rs753785671
|
|
NM_000465.4(BARD1):c.1322_1323dup (p.Pro442fs)
|
|
|
NM_000465.4(BARD1):c.1323dup (p.Pro442fs)
|
rs1694365908
|
|
NM_000465.4(BARD1):c.1325C>T (p.Pro442Leu)
|
rs730881417
|
|
NM_000465.4(BARD1):c.1325del (p.Pro442fs)
|
rs1060501287
|
|
NM_000465.4(BARD1):c.1328_1329del (p.Ser443fs)
|
rs1694365276
|
|
NM_000465.4(BARD1):c.1329del (p.Val444fs)
|
rs767587416
|
|
NM_000465.4(BARD1):c.1338C>G (p.Tyr446Ter)
|
rs761702998
|
|
NM_000465.4(BARD1):c.1339_1340insA (p.Leu447fs)
|
|
|
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
|
|
|
NM_000465.4(BARD1):c.1343T>A (p.Leu448Ter)
|
|
|
NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter)
|
rs1553619721
|
|
NM_000465.4(BARD1):c.1345del (p.Gln449fs)
|
rs2106081379
|
|
NM_000465.4(BARD1):c.1348_1349delinsCAT (p.Asn450fs)
|
rs1553619713
|
|
NM_000465.4(BARD1):c.1349dup (p.Asn450fs)
|
rs876660390
|
|
NM_000465.4(BARD1):c.1371dup (p.Asp458fs)
|
rs1553619704
|
|
NM_000465.4(BARD1):c.1386G>A (p.Trp462Ter)
|
|
|
NM_000465.4(BARD1):c.1394T>A (p.Leu465Ter)
|
rs1370053894
|
|
NM_000465.4(BARD1):c.1396-1G>A
|
rs2106077292
|
|
NM_000465.4(BARD1):c.1396-1G>C
|
|
|
NM_000465.4(BARD1):c.1396-1G>T
|
|
|
NM_000465.4(BARD1):c.1396-2A>C
|
|
|
NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter)
|
rs1553619349
|
|
NM_000465.4(BARD1):c.1426del (p.Lys475_Val476insTer)
|
rs1559410146
|
|
NM_000465.4(BARD1):c.1429del (p.Val477fs)
|
|
|
NM_000465.4(BARD1):c.1444del (p.Gln482fs)
|
|
|
NM_000465.4(BARD1):c.144_151del (p.Arg49fs)
|
|
|
NM_000465.4(BARD1):c.1474dup (p.Tyr492fs)
|
|
|
NM_000465.4(BARD1):c.1476T>G (p.Tyr492Ter)
|
|
|
NM_000465.4(BARD1):c.1486_1489dup (p.Pro497fs)
|
|
|
NM_000465.4(BARD1):c.1499dup (p.Asp500fs)
|
rs1553619258
|
|
NM_000465.4(BARD1):c.150C>A (p.Cys50Ter)
|
|
|
NM_000465.4(BARD1):c.1525_1528dup (p.Val510fs)
|
|
|
NM_000465.4(BARD1):c.1531A>T (p.Lys511Ter)
|
|
|
NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter)
|
rs2106076340
|
|
NM_000465.4(BARD1):c.1540del (p.Leu514fs)
|
|
|
NM_000465.4(BARD1):c.1547A>G (p.Tyr516Cys)
|
rs876660325
|
|
NM_000465.4(BARD1):c.1568+1G>A
|
rs2106076135
|
|
NM_000465.4(BARD1):c.1568+1G>T
|
|
|
NM_000465.4(BARD1):c.1568+2T>C
|
rs1553619196
|
|
NM_000465.4(BARD1):c.1569-1G>A
|
rs1574756672
|
|
NM_000465.4(BARD1):c.1569-2A>G
|
rs1693509336
|
|
NM_000465.4(BARD1):c.157del (p.Cys53fs)
|
rs1696452439
|
|
NM_000465.4(BARD1):c.158+1G>T
|
rs1553628351
|
|
NM_000465.4(BARD1):c.158+1_158+3delinsTT
|
|
|
NM_000465.4(BARD1):c.158+2_158+10del
|
|
|
NM_000465.4(BARD1):c.159-1G>A
|
rs879254139
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
NM_000465.4(BARD1):c.159-2A>C
|
rs1424761304
|
|
NM_000465.4(BARD1):c.1590_1617del (p.Val531fs)
|
|
|
NM_000465.4(BARD1):c.1597del (p.Tyr533fs)
|
|
|
NM_000465.4(BARD1):c.1598del (p.Tyr533fs)
|
|
|
NM_000465.4(BARD1):c.1604_1622delinsCA (p.Asp535fs)
|
|
|
NM_000465.4(BARD1):c.1620del (p.Lys540fs)
|
rs1693504040
|
|
NM_000465.4(BARD1):c.1622C>A (p.Ser541Ter)
|
rs777937955
|
|
NM_000465.4(BARD1):c.1628_1632del (p.Leu543fs)
|
|
|
NM_000465.4(BARD1):c.1635_1663dup (p.Ser555fs)
|
rs1553616352
|
|
NM_000465.4(BARD1):c.1639G>T (p.Glu547Ter)
|
rs876658429
|
|
NM_000465.4(BARD1):c.1639_1667del (p.Glu547fs)
|
|
|
NM_000465.4(BARD1):c.1641_1645dup (p.Asn549fs)
|
rs1553616361
|
|
NM_000465.4(BARD1):c.1656del (p.Ser553fs)
|
rs1574756047
|
|
NM_000465.4(BARD1):c.1658C>A (p.Ser553Ter)
|
|
|
NM_000465.4(BARD1):c.1673C>G (p.Ser558Ter)
|
|
|
NM_000465.4(BARD1):c.1676_1677+23del
|
rs1553616339
|
|
NM_000465.4(BARD1):c.1677+1G>A
|
|
|
NM_000465.4(BARD1):c.1677+1G>C
|
rs1060501310
|
|
NM_000465.4(BARD1):c.1677+1G>T
|
|
|
NM_000465.4(BARD1):c.1677+2T>A
|
|
|
NM_000465.4(BARD1):c.1677+2T>C
|
|
|
NM_000465.4(BARD1):c.1677A>G (p.Val559=)
|
|
|
NM_000465.4(BARD1):c.1678-1G>A
|
|
|
NM_000465.4(BARD1):c.1678-1_1678del
|
rs1553615184
|
|
NM_000465.4(BARD1):c.1678-2A>G
|
rs1693089850
|
|
NM_000465.4(BARD1):c.1678-2A>T
|
|
|
NM_000465.4(BARD1):c.1696_1697del (p.Arg566fs)
|
|
|
NM_000465.4(BARD1):c.1718_1730del (p.Ile573fs)
|
|
|
NM_000465.4(BARD1):c.1736C>A (p.Ser579Ter)
|
|
|
NM_000465.4(BARD1):c.1744C>T (p.Gln582Ter)
|
rs1553615135
|
|
NM_000465.4(BARD1):c.1746_1747del (p.Lys583fs)
|
|
|
NM_000465.4(BARD1):c.1751_1756dup (p.Met584_Leu585dup)
|
rs763622701
|
|
NM_000465.4(BARD1):c.1758_1761del (p.Glu587fs)
|
rs1574739207
|
|
NM_000465.4(BARD1):c.1759G>T (p.Glu587Ter)
|
|
|
NM_000465.4(BARD1):c.1765dup (p.Ala589fs)
|
|
|
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)
|
rs1057517589
|
|
NM_000465.4(BARD1):c.1771del (p.Ile591fs)
|
rs1574739114
|
|
NM_000465.4(BARD1):c.1786_1793del (p.Lys595_Lys596insTer)
|
rs1693074467
|
|
NM_000465.4(BARD1):c.1786_1804del (p.Lys596fs)
|
rs1553615102
|
|
NM_000465.4(BARD1):c.1788del (p.Lys596fs)
|
rs1574739005
|
|
NM_000465.4(BARD1):c.1788dup (p.Tyr597fs)
|
|
|
NM_000465.4(BARD1):c.1789_1792del (p.Tyr597fs)
|
|
|
NM_000465.4(BARD1):c.1790_1794dup (p.Glu599fs)
|
|
|
NM_000465.4(BARD1):c.1809del (p.Thr603_Val604insTer)
|
rs1553615092
|
|
NM_000465.4(BARD1):c.1810+1G>A
|
rs876659894
|
|
NM_000465.4(BARD1):c.1810+1_1810+32del
|
|
|
NM_000465.4(BARD1):c.1810+2T>G
|
rs1234033325
|
|
NM_000465.4(BARD1):c.1811-10_1811-2del
|
rs879254264
|
|
NM_000465.4(BARD1):c.1811-1G>A
|
rs879253952
|
|
NM_000465.4(BARD1):c.1819del (p.Val607fs)
|
|
|
NM_000465.4(BARD1):c.1829del (p.Pro610fs)
|
rs1693042024
|
|
NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)
|
|
|
NM_000465.4(BARD1):c.1843C>T (p.Gln615Ter)
|
rs751710099
|
|
NM_000465.4(BARD1):c.184del (p.Cys62fs)
|
rs1559441846
|
|
NM_000465.4(BARD1):c.1851delinsTG (p.Leu618fs)
|
|
|
NM_000465.4(BARD1):c.1854_1855dup (p.Lys619fs)
|
|
|
NM_000465.4(BARD1):c.1857dup (p.Cys620fs)
|
|
|
NM_000465.4(BARD1):c.1872del (p.Leu625fs)
|
rs876659572
|
|
NM_000465.4(BARD1):c.1900G>T (p.Glu634Ter)
|
|
|
NM_000465.4(BARD1):c.1903+1G>A
|
rs876660237
|
|
NM_000465.4(BARD1):c.1903+1G>C
|
|
|
NM_000465.4(BARD1):c.1903+1G>T
|
rs876660237
|
|
NM_000465.4(BARD1):c.1903+1del
|
|
|
NM_000465.4(BARD1):c.1903+2T>C
|
rs1574737047
|
|
NM_000465.4(BARD1):c.1904-1G>T
|
|
|
NM_000465.4(BARD1):c.1904-2A>T
|
rs864622239
|
|
NM_000465.4(BARD1):c.1904-2del
|
rs876659560
|
|
NM_000465.4(BARD1):c.1904G>A (p.Trp635Ter)
|
rs1692308262
|
|
NM_000465.4(BARD1):c.1905G>A (p.Trp635Ter)
|
rs773223671
|
|
NM_000465.4(BARD1):c.1910_1911dup (p.Ala638fs)
|
|
|
NM_000465.4(BARD1):c.1911del (p.Ala638fs)
|
|
|
NM_000465.4(BARD1):c.1911dup (p.Ala638fs)
|
|
|
NM_000465.4(BARD1):c.1914_2001+77del
|
|
|
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer)
|
rs587782504
|
|
NM_000465.4(BARD1):c.1935_1954del (p.Cys645_Glu652delinsTer)
|
rs587780024
|
|
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)
|
rs587780024
|
|
NM_000465.4(BARD1):c.1939C>T (p.Gln647Ter)
|
rs1350570988
|
|
NM_000465.4(BARD1):c.1944del (p.Glu649fs)
|
|
|
NM_000465.4(BARD1):c.1949del (p.Lys650fs)
|
rs1692302934
|
|
NM_000465.4(BARD1):c.1970del (p.Pro657fs)
|
rs786203739
|
|
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter)
|
rs730881422
|
|
NM_000465.4(BARD1):c.199del (p.Glu67fs)
|
|
|
NM_000465.4(BARD1):c.2001+1G>A
|
rs768490891
|
|
NM_000465.4(BARD1):c.2001+1G>C
|
rs768490891
|
|
NM_000465.4(BARD1):c.2001+3A>G
|
rs1553612461
|
|
NM_000465.4(BARD1):c.2002-1G>A
|
rs762601855
|
|
NM_000465.4(BARD1):c.2002-1G>C
|
rs762601855
|
|
NM_000465.4(BARD1):c.2002-1G>T
|
|
|
NM_000465.4(BARD1):c.2002-2A>C
|
rs876658260
|
|
NM_000465.4(BARD1):c.2002-2A>G
|
rs876658260
|
|
NM_000465.4(BARD1):c.2002-2A>T
|
rs876658260
|
|
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter)
|
rs1328046615
|
|
NM_000465.4(BARD1):c.2024del (p.Cys675fs)
|
rs2105987971
|
|
NM_000465.4(BARD1):c.2036T>A (p.Leu679Ter)
|
rs1692227690
|
|
NM_000465.4(BARD1):c.2038_2042del (p.Trp680fs)
|
rs1553612222
|
|
NM_000465.4(BARD1):c.2040G>A (p.Trp680Ter)
|
|
|
NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter)
|
rs1559372578
|
|
NM_000465.4(BARD1):c.2063dup (p.Asp689fs)
|
rs1064796026
|
|
NM_000465.4(BARD1):c.2104_2111del (p.Gln701_Ile702insTer)
|
|
|
NM_000465.4(BARD1):c.2126dup (p.Asp710fs)
|
|
|
NM_000465.4(BARD1):c.2129_2132del (p.Asp710fs)
|
rs1692216921
|
|
NM_000465.4(BARD1):c.2137_2141del (p.Val713fs)
|
|
|
NM_000465.4(BARD1):c.2138del (p.Val713fs)
|
|
|
NM_000465.4(BARD1):c.2143C>T (p.Gln715Ter)
|
rs1553612164
|
|
NM_000465.4(BARD1):c.2144dup (p.Thr716fs)
|
rs1574703115
|
|
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs)
|
rs786203811
|
|
NM_000465.4(BARD1):c.215+2T>C
|
rs1559441760
|
|
NM_000465.4(BARD1):c.2157_2160dup (p.Ala721fs)
|
|
|
NM_000465.4(BARD1):c.2159_2172del (p.Val720fs)
|
rs1692211675
|
|
NM_000465.4(BARD1):c.216-1G>A
|
rs876658905
|
|
NM_000465.4(BARD1):c.216-1G>C
|
|
|
NM_000465.4(BARD1):c.216-2A>G
|
rs2106135562
|
|
NM_000465.4(BARD1):c.2164_2200del (p.Tyr722fs)
|
|
|
NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter)
|
|
|
NM_000465.4(BARD1):c.2188C>T (p.Gln730Ter)
|
|
|
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)
|
rs76744638
|
|
NM_000465.4(BARD1):c.2195del (p.Phe732fs)
|
|
|
NM_000465.4(BARD1):c.2204_2205insTA (p.Gln735fs)
|
|
|
NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter)
|
rs2105986813
|
|
NM_000465.4(BARD1):c.2215dup (p.Tyr739fs)
|
|
|
NM_000465.4(BARD1):c.2228del (p.Cys743fs)
|
|
|
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter)
|
rs1259296823
|
|
NM_000465.4(BARD1):c.2262del (p.Val755fs)
|
|
|
NM_000465.4(BARD1):c.2267G>A (p.Trp756Ter)
|
rs1358155595
|
|
NM_000465.4(BARD1):c.2268del (p.Val755_Trp756insTer)
|
rs1559371635
|
|
NM_000465.4(BARD1):c.2276dup (p.Ser760fs)
|
|
|
NM_000465.4(BARD1):c.2284T>C (p.Trp762Arg)
|
rs878854008
|
|
NM_000465.4(BARD1):c.22_38delinsGTT (p.Arg8fs)
|
|
|
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)
|
rs750413473
|
|
NM_000465.4(BARD1):c.2300_2301dup (p.Met768Ter)
|
|
|
NM_000465.4(BARD1):c.230_233del (p.Asp77fs)
|
|
|
NM_000465.4(BARD1):c.244G>T (p.Gly82Ter)
|
rs1559437226
|
|
NM_000465.4(BARD1):c.249T>A (p.Cys83Ter)
|
|
|
NM_000465.4(BARD1):c.266del (p.Pro89fs)
|
rs1553624802
|
|
NM_000465.4(BARD1):c.26_40delinsTAATCGGT (p.Asn9fs)
|
|
|
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter)
|
rs1559437094
|
|
NM_000465.4(BARD1):c.273G>A (p.Trp91Ter)
|
rs2106135008
|
|
NM_000465.4(BARD1):c.273del (p.Ala90_Trp91insTer)
|
rs1553624801
|
|
NM_000465.4(BARD1):c.282del (p.Asp94_Leu95insTer)
|
|
|
NM_000465.4(BARD1):c.286A>T (p.Lys96Ter)
|
|
|
NM_000465.4(BARD1):c.292_295del (p.Asn98fs)
|
rs1553624758
|
|
NM_000465.4(BARD1):c.295dup (p.Arg99fs)
|
|
|
NM_000465.4(BARD1):c.298C>T (p.Gln100Ter)
|
rs786201912
|
|
NM_000465.4(BARD1):c.302del (p.Leu101fs)
|
|
|
NM_000465.4(BARD1):c.316C>T (p.Gln106Ter)
|
rs2106134639
|
|
NM_000465.4(BARD1):c.35del (p.Pro12fs)
|
|
|
NM_000465.4(BARD1):c.362C>G (p.Ser121Ter)
|
|
|
NM_000465.4(BARD1):c.364+1G>A
|
rs2106134408
|
|
NM_000465.4(BARD1):c.364+2T>G
|
|
|
NM_000465.4(BARD1):c.365-8del
|
rs776103948
|
|
NM_000465.4(BARD1):c.369_378del (p.Lys124fs)
|
|
|
NM_000465.4(BARD1):c.39_40del (p.Arg13fs)
|
|
|
NM_000465.4(BARD1):c.415_416del (p.Lys139fs)
|
rs1420243208
|
|
NM_000465.4(BARD1):c.433_435delinsTA (p.Met145fs)
|
|
|
NM_000465.4(BARD1):c.434dup (p.Met145fs)
|
|
|
NM_000465.4(BARD1):c.437G>A (p.Trp146Ter)
|
|
|
NM_000465.4(BARD1):c.438G>A (p.Trp146Ter)
|
rs587781806
|
|
NM_000465.4(BARD1):c.438_439del (p.Trp146fs)
|
|
|
NM_000465.4(BARD1):c.441dup (p.Ser148Ter)
|
rs1553622681
|
|
NM_000465.4(BARD1):c.457_460dup (p.Val154fs)
|
rs772486760
|
|
NM_000465.4(BARD1):c.461_464del (p.Val154fs)
|
|
|
NM_000465.4(BARD1):c.463A>T (p.Arg155Ter)
|
rs1553622669
|
|
NM_000465.4(BARD1):c.468T>G (p.Tyr156Ter)
|
|
|
NM_000465.4(BARD1):c.46_68dup (p.Ala25fs)
|
rs1553628445
|
|
NM_000465.4(BARD1):c.483_490del (p.Ser162fs)
|
|
|
NM_000465.4(BARD1):c.490C>T (p.Gln164Ter)
|
rs750350372
|
|
NM_000465.4(BARD1):c.496C>T (p.Gln166Ter)
|
rs786202500
|
|
NM_000465.4(BARD1):c.50_62del (p.Gly17fs)
|
|
|
NM_000465.4(BARD1):c.512_513del (p.Lys171fs)
|
|
|
NM_000465.4(BARD1):c.513del (p.Asp172fs)
|
|
|
NM_000465.4(BARD1):c.513dup (p.Asp172fs)
|
rs746325928
|
|
NM_000465.4(BARD1):c.517dup (p.Ala173fs)
|
rs1574821129
|
|
NM_000465.4(BARD1):c.529C>T (p.Gln177Ter)
|
|
|
NM_000465.4(BARD1):c.536C>G (p.Ser179Ter)
|
|
|
NM_000465.4(BARD1):c.539_540del (p.Ser179_Tyr180insTer)
|
rs779427628
|
|
NM_000465.4(BARD1):c.543del (p.Glu181fs)
|
|
|
NM_000465.4(BARD1):c.550del (p.Ser184fs)
|
|
|
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)
|
rs752514155
|
|
NM_000465.4(BARD1):c.580_581del (p.Arg194fs)
|
|
|
NM_000465.4(BARD1):c.589A>T (p.Lys197Ter)
|
|
|
NM_000465.4(BARD1):c.596_597dup (p.Ala200fs)
|
rs1574820590
|
|
NM_000465.4(BARD1):c.601A>T (p.Arg201Ter)
|
|
|
NM_000465.4(BARD1):c.614del (p.Lys205fs)
|
rs1559425604
|
|
NM_000465.4(BARD1):c.614dup (p.Gln206fs)
|
rs1559425604
|
|
NM_000465.4(BARD1):c.623_624insT (p.Lys208fs)
|
rs1695009134
|
|
NM_000465.4(BARD1):c.623del (p.Lys208fs)
|
|
|
NM_000465.4(BARD1):c.623dup (p.Lys209fs)
|
rs587780033
|
|
NM_000465.4(BARD1):c.624dup (p.Lys209fs)
|
rs1553622558
|
|
NM_000465.4(BARD1):c.627_628del (p.Lys209fs)
|
rs864622223
|
|
NM_000465.4(BARD1):c.628del (p.Thr210fs)
|
|
|
NM_000465.4(BARD1):c.631_632del (p.Leu211fs)
|
|
|
NM_000465.4(BARD1):c.632T>A (p.Leu211Ter)
|
rs762171436
|
|
NM_000465.4(BARD1):c.632T>G (p.Leu211Ter)
|
rs762171436
|
|
NM_000465.4(BARD1):c.632dup (p.Leu211fs)
|
rs999444545
|
|
NM_000465.4(BARD1):c.646del (p.Gln216fs)
|
rs1553622542
|
|
NM_000465.4(BARD1):c.653G>A (p.Trp218Ter)
|
rs1553622534
|
|
NM_000465.4(BARD1):c.657_660del (p.Asn219fs)
|
rs587781671
|
|
NM_000465.4(BARD1):c.65_101del (p.Ser22fs)
|
rs1574869326
|
|
NM_000465.4(BARD1):c.673G>T (p.Glu225Ter)
|
rs1064793049
|
|
NM_000465.4(BARD1):c.676G>C (p.Asp226His)
|
rs876659965
|
|
NM_000465.4(BARD1):c.682G>T (p.Glu228Ter)
|
|
|
NM_000465.4(BARD1):c.684del (p.Glu228fs)
|
|
|
NM_000465.4(BARD1):c.686_687insG (p.Phe229fs)
|
|
|
NM_000465.4(BARD1):c.697G>T (p.Glu233Ter)
|
|
|
NM_000465.4(BARD1):c.69_70delinsTCCGGGAACGAGCCTCGTTCCGCGT (p.Ala25fs)
|
rs876659040
|
|
NM_000465.4(BARD1):c.700G>T (p.Glu234Ter)
|
rs905491643
|
|
NM_000465.4(BARD1):c.709C>T (p.Gln237Ter)
|
rs587780035
|
|
NM_000465.4(BARD1):c.716_732del (p.Leu239fs)
|
|
|
NM_000465.4(BARD1):c.730dup (p.Ser244fs)
|
|
|
NM_000465.4(BARD1):c.733C>T (p.Gln245Ter)
|
rs587781430
|
|
NM_000465.4(BARD1):c.733_734insTGGAT (p.Gln245fs)
|
|
|
NM_000465.4(BARD1):c.737dup (p.Ser247fs)
|
|
|
NM_000465.4(BARD1):c.741_750del (p.Ile249fs)
|
rs1559425098
|
|
NM_000465.4(BARD1):c.776del (p.Asp259fs)
|
|
|
NM_000465.4(BARD1):c.782dup (p.Ala262fs)
|
|
|
NM_000465.4(BARD1):c.79G>T (p.Glu27Ter)
|
rs587780037
|
|
NM_000465.4(BARD1):c.802G>T (p.Glu268Ter)
|
|
|
NM_000465.4(BARD1):c.808G>T (p.Glu270Ter)
|
rs1060501288
|
|
NM_000465.4(BARD1):c.810del (p.Glu270fs)
|
|
|
NM_000465.4(BARD1):c.824dup (p.Leu275fs)
|
|
|
NM_000465.4(BARD1):c.829G>T (p.Glu277Ter)
|
|
|
NM_000465.4(BARD1):c.838_839del (p.Leu280fs)
|
rs876659752
|
|
NM_000465.4(BARD1):c.853dup (p.Gln285fs)
|
|
|
NM_000465.4(BARD1):c.856del (p.Gln285_Ile286insTer)
|
rs2106110129
|
|
NM_000465.4(BARD1):c.858dup (p.Glu287fs)
|
rs1553622397
|
|
NM_000465.4(BARD1):c.860_861del (p.Glu287fs)
|
rs786201868
|
|
NM_000465.4(BARD1):c.862_863insGG (p.Ser288fs)
|
|
|
NM_000465.4(BARD1):c.873dup (p.Lys292Ter)
|
rs1553622378
|
|
NM_000465.4(BARD1):c.884_888del (p.Asn295fs)
|
|
|
NM_000465.4(BARD1):c.925dup (p.Thr309fs)
|
rs2106109750
|
|
NM_000465.4(BARD1):c.947T>G (p.Leu316Ter)
|
rs587781728
|
|
NM_000465.4(BARD1):c.947del (p.Pro315_Leu316insTer)
|
|
|
NM_000465.4(BARD1):c.950_957delinsG (p.Glu317fs)
|
|
|
NM_000465.4(BARD1):c.961A>T (p.Lys321Ter)
|
|
|
NM_000465.4(BARD1):c.966_967dup (p.Gly323fs)
|
|
|
NM_000465.4(BARD1):c.974_986del (p.His325fs)
|
|
|
NM_000465.4(BARD1):c.975_976del (p.His325fs)
|
|
|
NM_000465.4(BARD1):c.998_999del (p.Ile332_Ser333insTer)
|
rs1482641121
|
|
NM_001330368.2(C11orf65):c.641-26773del
|
|
|
NM_001330368.2(C11orf65):c.641-6751dup
|
rs1555113505
|
|
NM_001349956.2(CHEK2):c.444+119del
|
|
|
NM_001407314.1(PALB2):c.49-1193del
|
rs1597091518
|
|
NM_007194.4(CHEK2):c.-6-45_36del
|
|
|
NM_007194.4(CHEK2):c.-6-5_6del
|
|
|
NM_007194.4(CHEK2):c.-6_2delinsA (p.Met1fs)
|
|
|
NM_007194.4(CHEK2):c.1006C>T (p.Gln336Ter)
|
rs2145841361
|
|
NM_007194.4(CHEK2):c.1007del (p.Gln336fs)
|
rs1569120831
|
|
NM_007194.4(CHEK2):c.1008+1G>A
|
rs1555915298
|
|
NM_007194.4(CHEK2):c.1008+1G>T
|
rs1555915298
|
|
NM_007194.4(CHEK2):c.1008+2T>G
|
rs1555915295
|
|
NM_007194.4(CHEK2):c.1009-1G>A
|
rs1555914382
|
|
NM_007194.4(CHEK2):c.1009-1G>T
|
|
|
NM_007194.4(CHEK2):c.1009-2A>C
|
rs766158073
|
|
NM_007194.4(CHEK2):c.1009-2A>G
|
rs766158073
|
|
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter)
|
rs1231012263
|
|
NM_007194.4(CHEK2):c.100_101del (p.Gln34fs)
|
rs2054330803
|
|
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe)
|
rs587782441
|
|
NM_007194.4(CHEK2):c.1018G>T (p.Glu340Ter)
|
|
|
NM_007194.4(CHEK2):c.1028T>C (p.Ile343Thr)
|
rs863224746
|
|
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr)
|
rs864622537
|
|
NM_007194.4(CHEK2):c.1036del (p.Arg346fs)
|
|
|
NM_007194.4(CHEK2):c.1043T>G (p.Leu348Ter)
|
rs878854908
|
|
NM_007194.4(CHEK2):c.1049dup (p.Glu351fs)
|
|
|
NM_007194.4(CHEK2):c.1050del (p.Glu351fs)
|
rs2052610542
|
|
NM_007194.4(CHEK2):c.1052del (p.Glu351fs)
|
|
|
NM_007194.4(CHEK2):c.1063del (p.Leu355fs)
|
rs1555914279
|
|
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter)
|
rs2146151890
|
|
NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter)
|
rs878854909
|
|
NM_007194.4(CHEK2):c.1075G>T (p.Glu359Ter)
|
|
|
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys)
|
rs876658337
|
|
NM_007194.4(CHEK2):c.1089_1092del (p.Ile364fs)
|
rs1064793566
|
|
NM_007194.4(CHEK2):c.1094_1095+4del
|
|
|
NM_007194.4(CHEK2):c.1095+1G>A
|
rs768172525
|
|
NM_007194.4(CHEK2):c.1095+1G>C
|
|
|
NM_007194.4(CHEK2):c.1095+1G>T
|
rs768172525
|
|
NM_007194.4(CHEK2):c.1095+1dup
|
|
|
NM_007194.4(CHEK2):c.1095+2T>G
|
rs1569115687
|
|
NM_007194.4(CHEK2):c.1096-1G>A
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1096-1G>C
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1096-1G>T
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1096-3_1096-1delinsAA
|
|
|
NM_007194.4(CHEK2):c.1096del (p.Ile366fs)
|
rs1555913941
|
|
NM_007194.4(CHEK2):c.1102G>A (p.Asp368Asn)
|
rs755127902
|
|
NM_007194.4(CHEK2):c.1102G>C (p.Asp368His)
|
|
|
NM_007194.4(CHEK2):c.1111_1127del (p.His371fs)
|
|
|
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)
|
rs2052563898
|
|
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs)
|
rs1555913894
|
|
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg)
|
rs786202446
|
|
NM_007194.4(CHEK2):c.1131_1132del (p.Glu377fs)
|
|
|
NM_007194.4(CHEK2):c.1133_1142del (p.Thr378fs)
|
rs1601723175
|
|
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs)
|
rs1060502684
|
|
NM_007194.4(CHEK2):c.1142_1143insA (p.Met381fs)
|
rs1064794965
|
|
NM_007194.4(CHEK2):c.1147A>G (p.Thr383Ala)
|
rs769439021
|
|
NM_007194.4(CHEK2):c.1159A>G (p.Thr387Ala)
|
rs771387164
|
|
NM_007194.4(CHEK2):c.1164del (p.Thr389fs)
|
rs758677815
|
|
NM_007194.4(CHEK2):c.1164dup (p.Thr389fs)
|
rs758677815
|
|
NM_007194.4(CHEK2):c.1167dup (p.Tyr390fs)
|
|
|
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys)
|
rs200928781
|
|
NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter)
|
rs886039631
|
|
NM_007194.4(CHEK2):c.117_132del (p.Ser40fs)
|
|
|
NM_007194.4(CHEK2):c.1180G>T (p.Glu394Ter)
|
rs587780169
|
|
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu)
|
rs587780170
|
|
NM_007194.4(CHEK2):c.1188_1194dup (p.Val399fs)
|
rs1569113653
|
|
NM_007194.4(CHEK2):c.1188del (p.Val397fs)
|
rs753159426
|
|
NM_007194.4(CHEK2):c.1197del (p.Thr401fs)
|
rs876658302
|
|
NM_007194.4(CHEK2):c.1197dup (p.Gly400fs)
|
rs876658302
|
|
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs)
|
rs1555913672
|
|
NM_007194.4(CHEK2):c.1210_1219del (p.Tyr404fs)
|
rs2052553224
|
|
NM_007194.4(CHEK2):c.1210dup (p.Tyr404fs)
|
|
|
NM_007194.4(CHEK2):c.1212T>A (p.Tyr404Ter)
|
rs587781836
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
NM_007194.4(CHEK2):c.1222_1237del (p.Ala407_Val408insTer)
|
rs786203031
|
|
NM_007194.4(CHEK2):c.1230C>A (p.Cys410Ter)
|
rs773380144
|
|
NM_007194.4(CHEK2):c.1233G>A (p.Trp411Ter)
|
rs1064796572
|
|
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter)
|
rs1248967885
|
|
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer)
|
rs765664259
|
|
NM_007194.4(CHEK2):c.1240G>T (p.Gly414Ter)
|
rs878854913
|
|
NM_007194.4(CHEK2):c.1246dup (p.Ile416fs)
|
rs2145801350
|
|
NM_007194.4(CHEK2):c.1248del (p.Leu417fs)
|
rs2145801216
|
|
NM_007194.4(CHEK2):c.1253_1254insA (p.Phe418fs)
|
|
|
NM_007194.4(CHEK2):c.1254del (p.Phe418fs)
|
rs587780173
|
|
NM_007194.4(CHEK2):c.1259+1G>A
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1259+1G>C
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1259+1G>T
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1259+2T>A
|
|
|
NM_007194.4(CHEK2):c.1260-6del
|
rs878854912
|
|
NM_007194.4(CHEK2):c.1260C>A (p.Cys420Ter)
|
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007194.4(CHEK2):c.1265del (p.Ser422fs)
|
|
|
NM_007194.4(CHEK2):c.1271del (p.Tyr424fs)
|
|
|
NM_007194.4(CHEK2):c.1271dup (p.Tyr424Ter)
|
|
|
NM_007194.4(CHEK2):c.1272T>G (p.Tyr424Ter)
|
|
|
NM_007194.4(CHEK2):c.1274dup (p.Pro426fs)
|
|
|
NM_007194.4(CHEK2):c.1275del (p.Pro426fs)
|
|
|
NM_007194.4(CHEK2):c.1276C>T (p.Pro426Ser)
|
rs1555913523
|
|
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)
|
rs1569112324
|
|
NM_007194.4(CHEK2):c.1281_1284del (p.Phe427fs)
|
|
|
NM_007194.4(CHEK2):c.1290_1292delinsGTGACTCAAGTGTCACTTCAGT (p.His430_Arg431delinsGlnTer)
|
|
|
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter)
|
rs771772104
|
|
NM_007194.4(CHEK2):c.1293del (p.Thr432fs)
|
|
|
NM_007194.4(CHEK2):c.1297C>T (p.Gln433Ter)
|
rs1555913494
|
|
NM_007194.4(CHEK2):c.1298_1299del (p.Gln433fs)
|
rs1555913493
|
|
NM_007194.4(CHEK2):c.1304C>A (p.Ser435Ter)
|
|
|
NM_007194.4(CHEK2):c.1306del (p.Ser435_Leu436insTer)
|
rs2145794764
|
|
NM_007194.4(CHEK2):c.1314del (p.Gln439fs)
|
rs2145794535
|
|
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)
|
rs778989252
|
|
NM_007194.4(CHEK2):c.1317G>C (p.Gln439His)
|
rs878854915
|
|
NM_007194.4(CHEK2):c.1318del (p.Ile440fs)
|
|
|
NM_007194.4(CHEK2):c.1321del (p.Thr441fs)
|
|
|
NM_007194.4(CHEK2):c.1323del (p.Ser442fs)
|
rs1555913464
|
|
NM_007194.4(CHEK2):c.1327G>T (p.Gly443Ter)
|
|
|
NM_007194.4(CHEK2):c.1332del (p.Lys444fs)
|
rs2145794013
|
|
NM_007194.4(CHEK2):c.1335C>A (p.Tyr445Ter)
|
rs1601719469
|
|
NM_007194.4(CHEK2):c.1335C>G (p.Tyr445Ter)
|
|
|
NM_007194.4(CHEK2):c.1335del (p.Lys444_Tyr445insTer)
|
|
|
NM_007194.4(CHEK2):c.1337del (p.Asn446fs)
|
rs876659639
|
|
NM_007194.4(CHEK2):c.133del (p.Thr45fs)
|
rs1555932518
|
|
NM_007194.4(CHEK2):c.1341del (p.Phe447fs)
|
rs2145793726
|
|
NM_007194.4(CHEK2):c.1344del (p.Pro449fs)
|
rs1601719328
|
|
NM_007194.4(CHEK2):c.1348G>T (p.Glu450Ter)
|
rs1555913429
|
|
NM_007194.4(CHEK2):c.1350del (p.Val451fs)
|
|
|
NM_007194.4(CHEK2):c.1355G>A (p.Trp452Ter)
|
rs1601719186
|
|
NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter)
|
rs730881702
|
|
NM_007194.4(CHEK2):c.135G>A (p.Thr45=)
|
rs745423387
|
|
NM_007194.4(CHEK2):c.1367C>G (p.Ser456Ter)
|
rs876659827
|
|
NM_007194.4(CHEK2):c.1371_1372del (p.Lys458fs)
|
rs2052513579
|
|
NM_007194.4(CHEK2):c.1374del (p.Ala459fs)
|
|
|
NM_007194.4(CHEK2):c.1375+1G>A
|
rs759706360
|
|
NM_007194.4(CHEK2):c.1375+1G>T
|
|
|
NM_007194.4(CHEK2):c.1375+1_1375+2del
|
rs876660801
|
|
NM_007194.4(CHEK2):c.1375+1del
|
|
|
NM_007194.4(CHEK2):c.1375+1delinsTTTCA
|
|
|
NM_007194.4(CHEK2):c.1375+2_1375+15del
|
|
|
NM_007194.4(CHEK2):c.1376-1G>C
|
rs876659287
|
|
NM_007194.4(CHEK2):c.1376-2A>G
|
rs2145786737
|
|
NM_007194.4(CHEK2):c.1393A>T (p.Lys465Ter)
|
|
|
NM_007194.4(CHEK2):c.1400T>A (p.Leu467Ter)
|
rs1555913161
|
|
NM_007194.4(CHEK2):c.1400del (p.Leu467fs)
|
rs2052472184
|
|
NM_007194.4(CHEK2):c.1415del (p.Lys472fs)
|
|
|
NM_007194.4(CHEK2):c.1432G>T (p.Glu478Ter)
|
rs2145784977
|
|
NM_007194.4(CHEK2):c.1434del (p.Glu479fs)
|
rs786202601
|
|
NM_007194.4(CHEK2):c.1435G>T (p.Glu479Ter)
|
rs1555913106
|
|
NM_007194.4(CHEK2):c.1437_1446del (p.Glu479fs)
|
|
|
NM_007194.4(CHEK2):c.1442T>G (p.Leu481Ter)
|
|
|
NM_007194.4(CHEK2):c.1444A>T (p.Arg482Ter)
|
|
|
NM_007194.4(CHEK2):c.1451del (p.Pro484fs)
|
rs1555913078
|
|
NM_007194.4(CHEK2):c.1454G>A (p.Trp485Ter)
|
rs1199577809
|
|
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter)
|
rs1601715852
|
|
NM_007194.4(CHEK2):c.1455dup (p.Leu486fs)
|
rs1601715865
|
|
NM_007194.4(CHEK2):c.1461+1G>T
|
rs886039629
|
|
NM_007194.4(CHEK2):c.1461+1del
|
|
|
NM_007194.4(CHEK2):c.1461+2T>C
|
rs779844113
|
|
NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter)
|
rs1420382294
|
|
NM_007194.4(CHEK2):c.1485del (p.Gln496fs)
|
|
|
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs)
|
rs1555912044
|
|
NM_007194.4(CHEK2):c.1492del (p.Leu498fs)
|
rs2052245881
|
|
NM_007194.4(CHEK2):c.1495del (p.Leu499fs)
|
|
|
NM_007194.4(CHEK2):c.1498_1501del (p.Ser500fs)
|
|
|
NM_007194.4(CHEK2):c.149del (p.Ser50fs)
|
|
|
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs)
|
rs757016287
|
|
NM_007194.4(CHEK2):c.1500_1501delinsAT (p.Glu501Ter)
|
|
|
NM_007194.4(CHEK2):c.1501del (p.Glu501fs)
|
rs1131691045
|
|
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs)
|
rs587782707
|
|
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)
|
rs587782489
|
|
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter)
|
rs587782489
|
|
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter)
|
rs587781592
|
|
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs)
|
rs1555912001
|
|
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter)
|
rs886039512
|
|
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
|
|
|
NM_007194.4(CHEK2):c.1542G>T (p.Gln514His)
|
rs747797219
|
|
NM_007194.4(CHEK2):c.1543-1G>A
|
rs2052190289
|
|
NM_007194.4(CHEK2):c.1543-1G>T
|
|
|
NM_007194.4(CHEK2):c.1543-44_1581del
|
|
|
NM_007194.4(CHEK2):c.1543-9_1546del
|
rs1555911638
|
|
NM_007194.4(CHEK2):c.1546del (p.Ser516fs)
|
rs1555911636
|
|
NM_007194.4(CHEK2):c.1547del (p.Ser516fs)
|
rs1555911635
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
NM_007194.4(CHEK2):c.1558_1559insC (p.Lys520fs)
|
rs876658646
|
|
NM_007194.4(CHEK2):c.159_160del (p.His54fs)
|
rs2054324732
|
|
NM_007194.4(CHEK2):c.16del (p.Asp6fs)
|
rs2146156838
|
|
NM_007194.4(CHEK2):c.174del (p.Thr59fs)
|
|
|
NM_007194.4(CHEK2):c.179dup (p.Ser61fs)
|
|
|
NM_007194.4(CHEK2):c.194_195del (p.Thr65fs)
|
rs2054321037
|
|
NM_007194.4(CHEK2):c.1A>G (p.Met1Val)
|
rs863224748
|
|
NM_007194.4(CHEK2):c.1A>T (p.Met1Leu)
|
rs863224748
|
|
NM_007194.4(CHEK2):c.1_3delinsTTT (p.Met1Phe)
|
|
|
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter)
|
rs768384031
|
|
NM_007194.4(CHEK2):c.206_207del (p.Gln69fs)
|
|
|
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)
|
rs587781705
|
|
NM_007194.4(CHEK2):c.219_223del (p.Ser73_Ile74insTer)
|
rs766416564
|
|
NM_007194.4(CHEK2):c.222del (p.Pro75fs)
|
rs2146147030
|
|
NM_007194.4(CHEK2):c.22G>T (p.Glu8Ter)
|
|
|
NM_007194.4(CHEK2):c.233_234del (p.Gln78fs)
|
rs2146146624
|
|
NM_007194.4(CHEK2):c.235G>T (p.Glu79Ter)
|
|
|
NM_007194.4(CHEK2):c.241G>T (p.Glu81Ter)
|
|
|
NM_007194.4(CHEK2):c.247C>T (p.Gln83Ter)
|
rs1555932326
|
|
NM_007194.4(CHEK2):c.247del (p.Gln83fs)
|
rs587782766
|
|
NM_007194.4(CHEK2):c.250G>T (p.Glu84Ter)
|
|
|
NM_007194.4(CHEK2):c.254del (p.Pro85fs)
|
|
|
NM_007194.4(CHEK2):c.263del (p.Pro88fs)
|
|
|
NM_007194.4(CHEK2):c.264dup (p.Thr89fs)
|
|
|
NM_007194.4(CHEK2):c.269dup (p.Ala91fs)
|
rs1555932231
|
|
NM_007194.4(CHEK2):c.270dup (p.Ala91fs)
|
|
|
NM_007194.4(CHEK2):c.275_287delinsTCAGG (p.Pro92fs)
|
|
|
NM_007194.4(CHEK2):c.276del (p.Trp93fs)
|
rs876661156
|
|
NM_007194.4(CHEK2):c.276dup (p.Trp93fs)
|
rs876661156
|
|
NM_007194.4(CHEK2):c.277del (p.Trp93fs)
|
rs786203458
|
|
NM_007194.4(CHEK2):c.278G>A (p.Trp93Ter)
|
rs786203889
|
|
NM_007194.4(CHEK2):c.282del (p.Arg95fs)
|
rs1064795959
|
|
NM_007194.4(CHEK2):c.290G>A (p.Trp97Ter)
|
|
|
NM_007194.4(CHEK2):c.292del (p.Ala98fs)
|
rs1555932116
|
|
NM_007194.4(CHEK2):c.298C>T (p.Gln100Ter)
|
rs2054311767
|
|
NM_007194.4(CHEK2):c.299del (p.Gln100fs)
|
|
|
NM_007194.4(CHEK2):c.309_318dup (p.Glu107delinsCysGlnSerTer)
|
|
|
NM_007194.4(CHEK2):c.315del (p.Glu107fs)
|
|
|
NM_007194.4(CHEK2):c.318del (p.Glu107fs)
|
|
|
NM_007194.4(CHEK2):c.319+1G>C
|
rs765080766
|
|
NM_007194.4(CHEK2):c.319+1G>T
|
rs765080766
|
|
NM_007194.4(CHEK2):c.319+1del
|
|
|
NM_007194.4(CHEK2):c.319G>T (p.Glu107Ter)
|
|
|
NM_007194.4(CHEK2):c.31dup (p.Gln11fs)
|
rs1555932913
|
|
NM_007194.4(CHEK2):c.320-1G>A
|
|
|
NM_007194.4(CHEK2):c.320-1G>T
|
rs864622613
|
|
NM_007194.4(CHEK2):c.320-2A>T
|
|
|
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg)
|
rs730881681
|
|
NM_007194.4(CHEK2):c.32A>C (p.Gln11Pro)
|
rs369256181
|
|
NM_007194.4(CHEK2):c.335_342delinsCACATTCACACA (p.Asn112fs)
|
|
|
NM_007194.4(CHEK2):c.339C>A (p.Tyr113Ter)
|
|
|
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter)
|
rs905674348
|
|
NM_007194.4(CHEK2):c.339del (p.Trp114fs)
|
|
|
NM_007194.4(CHEK2):c.341G>A (p.Trp114Ter)
|
rs1555927374
|
|
NM_007194.4(CHEK2):c.349del (p.Arg117fs)
|
rs2146071079
|
|
NM_007194.4(CHEK2):c.354del (p.Asp118fs)
|
|
|
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer)
|
rs1555927312
|
|
NM_007194.4(CHEK2):c.364del (p.Glu122fs)
|
rs786203355
|
|
NM_007194.4(CHEK2):c.366del (p.Glu122fs)
|
rs1555927302
|
|
NM_007194.4(CHEK2):c.391A>T (p.Lys131Ter)
|
rs1275395933
|
|
NM_007194.4(CHEK2):c.397A>G (p.Thr133Ala)
|
rs1060502703
|
|
NM_007194.4(CHEK2):c.397dup (p.Thr133fs)
|
|
|
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile)
|
rs786203977
|
|
NM_007194.4(CHEK2):c.400_401del (p.Thr133_Asp134insTer)
|
rs1569158640
|
|
NM_007194.4(CHEK2):c.402delinsAA (p.Asp134fs)
|
|
|
NM_007194.4(CHEK2):c.405del (p.Lys135fs)
|
rs730881699
|
|
NM_007194.4(CHEK2):c.409_427del (p.Arg137fs)
|
|
|
NM_007194.4(CHEK2):c.415dup (p.Tyr139fs)
|
|
|
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)
|
rs200917541
|
|
NM_007194.4(CHEK2):c.420_421del (p.Ser140fs)
|
|
|
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)
|
rs786203192
|
|
NM_007194.4(CHEK2):c.427_429delinsA (p.His143fs)
|
|
|
NM_007194.4(CHEK2):c.429_444+4del
|
|
|
NM_007194.4(CHEK2):c.432del (p.Arg145fs)
|
rs1555927148
|
|
NM_007194.4(CHEK2):c.432dup (p.Arg145fs)
|
rs1555927148
|
|
NM_007194.4(CHEK2):c.433del (p.Arg145fs)
|
rs1555927137
|
|
NM_007194.4(CHEK2):c.444+1G>T
|
rs121908698
|
|
NM_007194.4(CHEK2):c.444+1del
|
rs1064793780
|
|
NM_007194.4(CHEK2):c.444+2T>C
|
rs560596101
|
|
NM_007194.4(CHEK2):c.444+2T>G
|
|
|
NM_007194.4(CHEK2):c.445-1G>A
|
rs587782830
|
|
NM_007194.4(CHEK2):c.445-2A>G
|
rs1569158075
|
|
NM_007194.4(CHEK2):c.445-2A>T
|
|
|
NM_007194.4(CHEK2):c.445-8_446del
|
rs2146062270
|
|
NM_007194.4(CHEK2):c.449del (p.Val150fs)
|
rs1601824270
|
|
NM_007194.4(CHEK2):c.451_472del (p.Gly151fs)
|
rs1555926975
|
|
NM_007194.4(CHEK2):c.452del (p.Gly151fs)
|
rs2053949167
|
|
NM_007194.4(CHEK2):c.456del (p.Asn154fs)
|
|
|
NM_007194.4(CHEK2):c.461dup (p.Asn154fs)
|
|
|
NM_007194.4(CHEK2):c.468C>A (p.Tyr156Ter)
|
rs1555926996
|
|
NM_007194.4(CHEK2):c.46dup (p.Ser16fs)
|
|
|
NM_007194.4(CHEK2):c.472del (p.Ala158fs)
|
|
|
NM_007194.4(CHEK2):c.473_474delinsAAGTACTCT (p.Ala158fs)
|
|
|
NM_007194.4(CHEK2):c.474A>G (p.Ala158=)
|
rs745699485
|
|
NM_007194.4(CHEK2):c.477_478dup (p.Ile160fs)
|
|
|
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer)
|
rs1225437533
|
|
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr)
|
rs72552323
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007194.4(CHEK2):c.480_483dup (p.Asp162fs)
|
rs864622453
|
|
NM_007194.4(CHEK2):c.499G>C (p.Gly167Arg)
|
|
|
NM_007194.4(CHEK2):c.507del (p.Phe169fs)
|
rs587780183
|
|
NM_007194.4(CHEK2):c.509_514delinsG (p.Val170fs)
|
|
|
NM_007194.4(CHEK2):c.514dup (p.Thr172fs)
|
rs1601823546
|
|
NM_007194.4(CHEK2):c.516_519del (p.Glu173fs)
|
|
|
NM_007194.4(CHEK2):c.523del (p.Leu174_Val175insTer)
|
|
|
NM_007194.4(CHEK2):c.524dup (p.Gly176fs)
|
rs587780184
|
|
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter)
|
rs796389290
|
|
NM_007194.4(CHEK2):c.533del (p.Gly178fs)
|
|
|
NM_007194.4(CHEK2):c.537del (p.Lys179fs)
|
rs2053940893
|
|
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr)
|
rs786203973
|
|
NM_007194.4(CHEK2):c.548T>A (p.Leu183Ter)
|
|
|
NM_007194.4(CHEK2):c.555_585del (p.Asn185fs)
|
|
|
NM_007194.4(CHEK2):c.555del (p.Asn185fs)
|
|
|
NM_007194.4(CHEK2):c.557del (p.Asn186fs)
|
rs2146057730
|
|
NM_007194.4(CHEK2):c.573del (p.Ser192fs)
|
|
|
NM_007194.4(CHEK2):c.575C>G (p.Ser192Ter)
|
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007194.4(CHEK2):c.592+1G>A
|
rs1601822722
|
|
NM_007194.4(CHEK2):c.592+1G>T
|
|
|
NM_007194.4(CHEK2):c.592+2T>A
|
|
|
NM_007194.4(CHEK2):c.592+2T>C
|
rs1601822717
|
|
NM_007194.4(CHEK2):c.593-11_593-7del
|
rs863224414
|
|
NM_007194.4(CHEK2):c.593-14C>G
|
rs145754558
|
|
NM_007194.4(CHEK2):c.593-15T>A
|
rs757717459
|
|
NM_007194.4(CHEK2):c.593-1G>A
|
rs786203229
|
|
NM_007194.4(CHEK2):c.593-1G>T
|
rs786203229
|
|
NM_007194.4(CHEK2):c.593-20_593-18del
|
rs752590759
|
|
NM_007194.4(CHEK2):c.597del (p.Phe199fs)
|
rs1250779080
|
|
NM_007194.4(CHEK2):c.600del (p.Phe202fs)
|
rs1555924538
|
|
NM_007194.4(CHEK2):c.605_606del (p.Phe201_Phe202insTer)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.606del (p.Phe202fs)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)
|
rs1346554630
|
|
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr)
|
rs587782323
|
|
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter)
|
rs1569149953
|
|
NM_007194.4(CHEK2):c.625del (p.Gln209fs)
|
|
|
NM_007194.4(CHEK2):c.629C>G (p.Ser210Ter)
|
rs767253467
|
|
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs)
|
rs756131136
|
|
NM_007194.4(CHEK2):c.636T>A (p.Tyr212Ter)
|
|
|
NM_007194.4(CHEK2):c.655G>T (p.Glu219Ter)
|
rs1601805632
|
|
NM_007194.4(CHEK2):c.655del (p.Glu219fs)
|
rs786202497
|
|
NM_007194.4(CHEK2):c.657del (p.Glu219fs)
|
|
|
NM_007194.4(CHEK2):c.668C>G (p.Ser223Ter)
|
|
|
NM_007194.4(CHEK2):c.673del (p.Thr225fs)
|
rs1342011335
|
|
NM_007194.4(CHEK2):c.673dup (p.Thr225fs)
|
rs1342011335
|
|
NM_007194.4(CHEK2):c.680dup (p.Ser228fs)
|
|
|
NM_007194.4(CHEK2):c.681_683+1del
|
|
|
NM_007194.4(CHEK2):c.683+1G>A
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+1G>C
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+1G>T
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+2T>C
|
rs781021132
|
|
NM_007194.4(CHEK2):c.683+2T>G
|
|
|
NM_007194.4(CHEK2):c.684-1G>A
|
rs1298667185
|
|
NM_007194.4(CHEK2):c.684-1G>C
|
rs1298667185
|
|
NM_007194.4(CHEK2):c.684-1dup
|
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
NM_007194.4(CHEK2):c.684-2A>T
|
rs2053419665
|
|
NM_007194.4(CHEK2):c.688del (p.Ala230fs)
|
|
|
NM_007194.4(CHEK2):c.696del (p.Glu233fs)
|
|
|
NM_007194.4(CHEK2):c.696dup (p.Glu233fs)
|
rs1601784008
|
|
NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter)
|
rs753972711
|
|
NM_007194.4(CHEK2):c.700_712del (p.Val234fs)
|
|
|
NM_007194.4(CHEK2):c.700delinsTTTAA (p.Val234fs)
|
rs1601783879
|
|
NM_007194.4(CHEK2):c.710_718delinsGG (p.Ala237fs)
|
|
|
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)
|
rs121908702
|
|
NM_007194.4(CHEK2):c.724_725insG (p.Thr242fs)
|
|
|
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer)
|
rs1392940377
|
|
NM_007194.4(CHEK2):c.729dup (p.Lys244Ter)
|
rs2145951132
|
|
NM_007194.4(CHEK2):c.733_736del (p.Lys244_Lys245insTer)
|
rs2053412352
|
|
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val)
|
rs779457035
|
|
NM_007194.4(CHEK2):c.743del (p.Ile248fs)
|
|
|
NM_007194.4(CHEK2):c.746dup (p.Ile250fs)
|
|
|
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)
|
rs786201896
|
|
NM_007194.4(CHEK2):c.760del (p.Arg254fs)
|
rs2145949827
|
|
NM_007194.4(CHEK2):c.762G>T (p.Arg254Ser)
|
rs878854922
|
|
NM_007194.4(CHEK2):c.76dup (p.Thr26fs)
|
|
|
NM_007194.4(CHEK2):c.775_778del (p.Gly259fs)
|
|
|
NM_007194.4(CHEK2):c.776dup (p.Ser260fs)
|
rs2053407842
|
|
NM_007194.4(CHEK2):c.779C>G (p.Ser260Ter)
|
|
|
NM_007194.4(CHEK2):c.782del (p.Ala261fs)
|
|
|
NM_007194.4(CHEK2):c.787G>T (p.Glu263Ter)
|
rs730881686
|
|
NM_007194.4(CHEK2):c.788_789del (p.Glu263fs)
|
rs2145948828
|
|
NM_007194.4(CHEK2):c.792+1G>A
|
rs1555921011
|
|
NM_007194.4(CHEK2):c.792+1G>C
|
|
|
NM_007194.4(CHEK2):c.792A>G (p.Ala264=)
|
rs2053406573
|
|
NM_007194.4(CHEK2):c.792_792+1del
|
rs774831804
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
NM_007194.4(CHEK2):c.793-2A>G
|
rs1555920257
|
|
NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter)
|
rs376736188
|
|
NM_007194.4(CHEK2):c.815del (p.Thr272fs)
|
|
|
NM_007194.4(CHEK2):c.817G>T (p.Glu273Ter)
|
|
|
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs)
|
rs1474786480
|
|
NM_007194.4(CHEK2):c.823G>T (p.Glu275Ter)
|
rs749963436
|
|
NM_007194.4(CHEK2):c.823del (p.Glu275fs)
|
rs769430546
|
|
NM_007194.4(CHEK2):c.826del (p.Ile276fs)
|
|
|
NM_007194.4(CHEK2):c.830del (p.Ile276_Leu277insTer)
|
|
|
NM_007194.4(CHEK2):c.835A>T (p.Lys279Ter)
|
|
|
NM_007194.4(CHEK2):c.836del (p.Lys279fs)
|
rs1555920142
|
|
NM_007194.4(CHEK2):c.842dup (p.Asn281fs)
|
rs2053330207
|
|
NM_007194.4(CHEK2):c.844_846+16delinsTATTA
|
|
|
NM_007194.4(CHEK2):c.846+1G>A
|
rs864622149
|
|
NM_007194.4(CHEK2):c.846+1G>T
|
rs864622149
|
|
NM_007194.4(CHEK2):c.846+1_846+2delinsC
|
|
|
NM_007194.4(CHEK2):c.846+2T>A
|
rs1601777275
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007194.4(CHEK2):c.847-12_847-2delinsTTG
|
|
|
NM_007194.4(CHEK2):c.847-14_847-2delinsGG
|
rs1555917041
|
|
NM_007194.4(CHEK2):c.847-1G>A
|
rs878854926
|
|
NM_007194.4(CHEK2):c.847-1G>T
|
|
|
NM_007194.4(CHEK2):c.847-1_893del
|
|
|
NM_007194.4(CHEK2):c.847-2A>C
|
|
|
NM_007194.4(CHEK2):c.847-2A>G
|
rs1601753141
|
|
NM_007194.4(CHEK2):c.847-6T>G
|
rs1555917050
|
|
NM_007194.4(CHEK2):c.84C>A (p.Ser28=)
|
rs863224415
|
|
NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter)
|
rs1555917031
|
|
NM_007194.4(CHEK2):c.860del (p.Lys287fs)
|
rs886039731
|
|
NM_007194.4(CHEK2):c.865A>T (p.Lys289Ter)
|
|
|
NM_007194.4(CHEK2):c.869del (p.Asn290fs)
|
rs1422634212
|
|
NM_007194.4(CHEK2):c.875_876del (p.Phe291_Phe292insTer)
|
rs772683219
|
|
NM_007194.4(CHEK2):c.876del (p.Phe292fs)
|
rs772683219
|
|
NM_007194.4(CHEK2):c.876dup (p.Asp293Ter)
|
rs772683219
|
|
NM_007194.4(CHEK2):c.877del (p.Asp293fs)
|
|
|
NM_007194.4(CHEK2):c.879del (p.Asp293fs)
|
rs1555916968
|
|
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del)
|
rs771860071
|
|
NM_007194.4(CHEK2):c.891T>A (p.Tyr297Ter)
|
|
|
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs)
|
rs1390889028
|
|
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)
|
rs876659519
|
|
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)
|
rs886039739
|
|
NM_007194.4(CHEK2):c.902del (p.Leu301fs)
|
rs748005072
|
|
NM_007194.4(CHEK2):c.904G>T (p.Glu302Ter)
|
|
|
NM_007194.4(CHEK2):c.906del (p.Glu302fs)
|
rs2052974883
|
|
NM_007194.4(CHEK2):c.908+1G>A
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+1G>C
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+1G>T
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+1_908+13delinsTTTAAAA
|
|
|
NM_007194.4(CHEK2):c.908+2T>A
|
rs1601752066
|
|
NM_007194.4(CHEK2):c.908+2T>C
|
rs1601752066
|
|
NM_007194.4(CHEK2):c.908+6T>C
|
rs748988275
|
|
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter)
|
rs1233699096
|
|
NM_007194.4(CHEK2):c.909-1G>A
|
rs886039721
|
|
NM_007194.4(CHEK2):c.909-1G>T
|
rs886039721
|
|
NM_007194.4(CHEK2):c.909-28_909-20del
|
rs1555915597
|
|
NM_007194.4(CHEK2):c.909-2A>G
|
rs1555915589
|
|
NM_007194.4(CHEK2):c.919G>T (p.Gly307Ter)
|
rs1555915533
|
|
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.919_920dup (p.Leu309fs)
|
|
|
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu)
|
rs876661053
|
|
NM_007194.4(CHEK2):c.920del (p.Gly307fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.920dup (p.Glu308fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.923_987del (p.Glu308fs)
|
|
|
NM_007194.4(CHEK2):c.952del (p.Arg318fs)
|
rs749153163
|
|
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter)
|
rs1555915433
|
|
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro)
|
rs750984976
|
|
NM_007194.4(CHEK2):c.975_978del (p.Lys325fs)
|
|
|
NM_007194.4(CHEK2):c.985del (p.Tyr329fs)
|
rs1569121048
|
|
NM_007194.4(CHEK2):c.985dup (p.Tyr329fs)
|
|
|
NM_007194.4(CHEK2):c.986dup (p.Tyr329Ter)
|
|
|
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter)
|
rs768973809
|
|
NM_007194.4(CHEK2):c.98C>A (p.Ser33Ter)
|
rs2054331180
|
|
NM_007194.4(CHEK2):c.98C>G (p.Ser33Ter)
|
|
|
NM_007194.4(CHEK2):c.992_999delinsGCTT (p.Met331fs)
|
|
|
NM_007194.4(CHEK2):c.993del (p.Met331fs)
|
|
|
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
|
|
|
NM_024675.3(PALB2):c.1724dup (p.Ser576Glufs)
|
rs1555460682
|
|
NM_024675.3(PALB2):c.2587-2A>G
|
rs1060502787
|
|
NM_024675.4(PALB2):c.1002C>A (p.Tyr334Ter)
|
rs1967002667
|
|
NM_024675.4(PALB2):c.1002C>G (p.Tyr334Ter)
|
|
|
NM_024675.4(PALB2):c.1011dup (p.Pro338fs)
|
|
|
NM_024675.4(PALB2):c.1013_1016delinsTGG (p.Pro338fs)
|
|
|
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter)
|
rs180177097
|
|
NM_024675.4(PALB2):c.1032_1033dup (p.Leu345fs)
|
rs1555461488
|
|
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs)
|
rs587776410
|
|
NM_024675.4(PALB2):c.1039G>T (p.Glu347Ter)
|
rs1060499812
|
|
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)
|
rs375699023
|
|
NM_024675.4(PALB2):c.1042del (p.Gln348fs)
|
rs1597097408
|
|
NM_024675.4(PALB2):c.1046del (p.Asn349fs)
|
rs1555461484
|
|
NM_024675.4(PALB2):c.1047_1050del (p.Asn349fs)
|
rs1060499813
|
|
NM_024675.4(PALB2):c.1048C>T (p.Gln350Ter)
|
rs1060502788
|
|
NM_024675.4(PALB2):c.104T>C (p.Leu35Pro)
|
rs141047069
|
|
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)
|
rs515726060
|
|
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs)
|
rs180177099
|
|
NM_024675.4(PALB2):c.1056_1065del (p.Lys353fs)
|
rs2142426926
|
|
NM_024675.4(PALB2):c.1059_1077delinsGG (p.Ser354fs)
|
rs1555461460
|
|
NM_024675.4(PALB2):c.1059del (p.Lys353fs)
|
rs730881872
|
|
NM_024675.4(PALB2):c.1061del (p.Ser354fs)
|
|
|
NM_024675.4(PALB2):c.1064_1067del (p.Leu355fs)
|
|
|
NM_024675.4(PALB2):c.1064del (p.Ser354_Leu355insTer)
|
rs1555461472
|
|
NM_024675.4(PALB2):c.1068dup (p.Ser357fs)
|
|
|
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)
|
rs757369748
|
|
NM_024675.4(PALB2):c.1078_1084del (p.Asp360fs)
|
rs2142426385
|
|
NM_024675.4(PALB2):c.108+2T>G
|
|
|
NM_024675.4(PALB2):c.1082del (p.Thr361fs)
|
|
|
NM_024675.4(PALB2):c.1084_1085del (p.Thr361_Leu362insTer)
|
rs1597097182
|
|
NM_024675.4(PALB2):c.1085_1086del (p.Leu362fs)
|
rs786203399
|
|
NM_024675.4(PALB2):c.109-1G>A
|
|
|
NM_024675.4(PALB2):c.109-2A>G
|
rs730881897
|
|
NM_024675.4(PALB2):c.109-2A>T
|
|
|
NM_024675.4(PALB2):c.1096A>G (p.Asn366Asp)
|
rs786204080
|
|
NM_024675.4(PALB2):c.1097dup (p.Asn366fs)
|
|
|
NM_024675.4(PALB2):c.1100_1163del (p.Glu367fs)
|
|
|
NM_024675.4(PALB2):c.1106_1116del (p.Leu369fs)
|
rs2142425504
|
|
NM_024675.4(PALB2):c.1107del (p.Gln370fs)
|
|
|
NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter)
|
rs587776411
|
|
NM_024675.4(PALB2):c.1111G>T (p.Glu371Ter)
|
|
|
NM_024675.4(PALB2):c.1114del (p.Ser372fs)
|
|
|
NM_024675.4(PALB2):c.1114dup (p.Ser372fs)
|
rs1060499815
|
|
NM_024675.4(PALB2):c.1117G>T (p.Glu373Ter)
|
rs1597097072
|
|
NM_024675.4(PALB2):c.1117del (p.Glu373fs)
|
|
|
NM_024675.4(PALB2):c.1122del (p.Ile374_Leu375insTer)
|
|
|
NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter)
|
rs929474806
|
|
NM_024675.4(PALB2):c.1133del (p.Pro378fs)
|
|
|
NM_024675.4(PALB2):c.1142_1143del (p.Leu381fs)
|
rs2142424706
|
|
NM_024675.4(PALB2):c.1152_1153insCA (p.Ala385fs)
|
|
|
NM_024675.4(PALB2):c.1156del (p.Thr386fs)
|
rs1597096949
|
|
NM_024675.4(PALB2):c.1156dup (p.Thr386fs)
|
rs1597096949
|
|
NM_024675.4(PALB2):c.115C>T (p.Gln39Ter)
|
rs876659319
|
|
NM_024675.4(PALB2):c.1163dup (p.Leu389fs)
|
rs869312772
|
|
NM_024675.4(PALB2):c.1179dup (p.His394fs)
|
rs1567221417
|
|
NM_024675.4(PALB2):c.1183del (p.Ser395fs)
|
rs1555461415
|
|
NM_024675.4(PALB2):c.1186dup (p.Cys396fs)
|
rs1555461413
|
|
NM_024675.4(PALB2):c.1187dup (p.Cys396fs)
|
|
|
NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter)
|
rs587780817
|
|
NM_024675.4(PALB2):c.1189del (p.Thr397fs)
|
|
|
NM_024675.4(PALB2):c.118del (p.Arg40fs)
|
rs1597101532
|
|
NM_024675.4(PALB2):c.1192del (p.Val398fs)
|
rs1555461407
|
|
NM_024675.4(PALB2):c.1202_1203insT (p.Leu402fs)
|
|
|
NM_024675.4(PALB2):c.1206del (p.Leu403fs)
|
rs876658431
|
|
NM_024675.4(PALB2):c.1207_1208del (p.Leu403fs)
|
|
|
NM_024675.4(PALB2):c.1209_1224del (p.Phe404fs)
|
|
|
NM_024675.4(PALB2):c.120del (p.Ala41fs)
|
|
|
NM_024675.4(PALB2):c.1216del (p.Ala406fs)
|
rs876659741
|
|
NM_024675.4(PALB2):c.1226dup (p.Tyr409Ter)
|
rs1966983494
|
|
NM_024675.4(PALB2):c.1227T>A (p.Tyr409Ter)
|
rs1555461386
|
|
NM_024675.4(PALB2):c.1227_1231del (p.Tyr409_Arg411delinsTer)
|
rs1555461385
|
|
NM_024675.4(PALB2):c.1227del (p.Tyr408_Tyr409insTer)
|
|
|
NM_024675.4(PALB2):c.123del (p.Glu42fs)
|
rs1967104136
|
|
NM_024675.4(PALB2):c.1241_1356del (p.Arg414fs)
|
|
|
NM_024675.4(PALB2):c.1242_1243dup (p.Ser415fs)
|
|
|
NM_024675.4(PALB2):c.1266del (p.Lys422_Val423insTer)
|
rs1555461366
|
|
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter)
|
rs1555461358
|
|
NM_024675.4(PALB2):c.128dup (p.Ile44fs)
|
|
|
NM_024675.4(PALB2):c.1291_1292del (p.His432fs)
|
rs786203057
|
|
NM_024675.4(PALB2):c.1296_1306del (p.His432fs)
|
|
|
NM_024675.4(PALB2):c.12dup (p.Pro5fs)
|
rs879254062
|
|
NM_024675.4(PALB2):c.1314del (p.Phe440fs)
|
rs515726065
|
|
NM_024675.4(PALB2):c.1317del (p.Phe440fs)
|
rs515726067
|
|
NM_024675.4(PALB2):c.1320dup (p.Lys441Ter)
|
rs2142419403
|
|
NM_024675.4(PALB2):c.1327A>T (p.Lys443Ter)
|
rs1555461339
|
|
NM_024675.4(PALB2):c.1331del (p.Asn444fs)
|
|
|
NM_024675.4(PALB2):c.1348_1349del (p.Asn450fs)
|
|
|
NM_024675.4(PALB2):c.1352dup (p.Leu451fs)
|
rs1597096326
|
|
NM_024675.4(PALB2):c.1359_1360insGT (p.Ser454fs)
|
rs2142418386
|
|
NM_024675.4(PALB2):c.1360del (p.Ser454fs)
|
|
|
NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter)
|
rs1060502785
|
|
NM_024675.4(PALB2):c.1369del (p.Glu457fs)
|
rs2142418150
|
|
NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter)
|
rs876658166
|
|
NM_024675.4(PALB2):c.1392del (p.Met465fs)
|
|
|
NM_024675.4(PALB2):c.1394_1395insAGAC (p.Met465fs)
|
|
|
NM_024675.4(PALB2):c.1408_1411dup (p.Gly471fs)
|
|
|
NM_024675.4(PALB2):c.1414C>T (p.Gln472Ter)
|
|
|
NM_024675.4(PALB2):c.1416_1431del (p.Gln472fs)
|
|
|
NM_024675.4(PALB2):c.1416del (p.Gln472fs)
|
|
|
NM_024675.4(PALB2):c.1417_1433del (p.Pro473fs)
|
|
|
NM_024675.4(PALB2):c.1424C>A (p.Ser475Ter)
|
rs886039479
|
|
NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter)
|
rs886039479
|
|
NM_024675.4(PALB2):c.1424dup (p.Arg476fs)
|
rs1555461294
|
|
NM_024675.4(PALB2):c.1425_1426insT (p.Arg476Ter)
|
rs876659341
|
|
NM_024675.4(PALB2):c.1434_1435del (p.Gln479fs)
|
|
|
NM_024675.4(PALB2):c.1438A>T (p.Lys480Ter)
|
rs1057520653
|
|
NM_024675.4(PALB2):c.1438_1441del (p.Lys480fs)
|
|
|
NM_024675.4(PALB2):c.1440del (p.Lys480fs)
|
rs1555461278
|
|
NM_024675.4(PALB2):c.1442_1443del (p.Leu481fs)
|
|
|
NM_024675.4(PALB2):c.1447_1448del (p.Ser483fs)
|
rs1966967463
|
|
NM_024675.4(PALB2):c.1448C>A (p.Ser483Ter)
|
rs1057520736
|
|
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)
|
rs786203714
|
|
NM_024675.4(PALB2):c.1453del (p.Thr485fs)
|
|
|
NM_024675.4(PALB2):c.1454_1458del (p.Thr485fs)
|
rs2142415370
|
|
NM_024675.4(PALB2):c.1465del (p.Ser489fs)
|
rs1064793220
|
|
NM_024675.4(PALB2):c.1476del (p.Thr494fs)
|
|
|
NM_024675.4(PALB2):c.1479del (p.Thr494fs)
|
rs515726071
|
|
NM_024675.4(PALB2):c.1485del (p.Asp496fs)
|
rs1555461256
|
|
NM_024675.4(PALB2):c.1490del (p.Asn497fs)
|
rs1555461253
|
|
NM_024675.4(PALB2):c.1524del (p.Gly509fs)
|
|
|
NM_024675.4(PALB2):c.1535dup (p.Tyr512Ter)
|
rs1966959467
|
|
NM_024675.4(PALB2):c.1536C>A (p.Tyr512Ter)
|
rs1567220802
|
|
NM_024675.4(PALB2):c.1536C>G (p.Tyr512Ter)
|
|
|
NM_024675.4(PALB2):c.1538del (p.Thr513fs)
|
rs879253892
|
|
NM_024675.4(PALB2):c.1543A>T (p.Lys515Ter)
|
|
|
NM_024675.4(PALB2):c.1546del (p.Arg516fs)
|
rs587781560
|
|
NM_024675.4(PALB2):c.1546dup (p.Arg516fs)
|
rs587781560
|
|
NM_024675.4(PALB2):c.1547_1548del (p.Arg516fs)
|
rs2142412914
|
|
NM_024675.4(PALB2):c.1550_1551del (p.Lys517fs)
|
|
|
NM_024675.4(PALB2):c.1551dup (p.Ser518fs)
|
|
|
NM_024675.4(PALB2):c.1553C>A (p.Ser518Ter)
|
rs1060502805
|
|
NM_024675.4(PALB2):c.1553C>G (p.Ser518Ter)
|
rs1060502805
|
|
NM_024675.4(PALB2):c.1560C>A (p.Cys520Ter)
|
|
|
NM_024675.4(PALB2):c.1565del (p.Pro522fs)
|
rs1555461217
|
|
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter)
|
rs587776413
|
|
NM_024675.4(PALB2):c.1582G>T (p.Glu528Ter)
|
|
|
NM_024675.4(PALB2):c.1587_1589delinsCC (p.Leu531fs)
|
|
|
NM_024675.4(PALB2):c.1591_1592del (p.Leu531fs)
|
rs180177102
|
|
NM_024675.4(PALB2):c.1592T>A (p.Leu531Ter)
|
|
|
NM_024675.4(PALB2):c.1592del (p.Leu531fs)
|
rs180177102
|
|
NM_024675.4(PALB2):c.1610C>A (p.Ser537Ter)
|
|
|
NM_024675.4(PALB2):c.1614del (p.Ile538fs)
|
|
|
NM_024675.4(PALB2):c.1619dup (p.Asn540fs)
|
rs1555461192
|
|
NM_024675.4(PALB2):c.1641_1669del (p.Ser548fs)
|
|
|
NM_024675.4(PALB2):c.1643C>G (p.Ser548Ter)
|
rs1241049372
|
|
NM_024675.4(PALB2):c.1644del (p.His549fs)
|
|
|
NM_024675.4(PALB2):c.1645del (p.His549fs)
|
|
|
NM_024675.4(PALB2):c.1647del (p.His549fs)
|
|
|
NM_024675.4(PALB2):c.1648A>T (p.Lys550Ter)
|
rs1555461178
|
|
NM_024675.4(PALB2):c.1653T>G (p.Tyr551Ter)
|
rs118203997
|
|
NM_024675.4(PALB2):c.1653del (p.Gln552fs)
|
rs1555461174
|
|
NM_024675.4(PALB2):c.1668dup (p.Phe557fs)
|
|
|
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs)
|
rs1060502734
|
|
NM_024675.4(PALB2):c.1671_1676delinsCG (p.Ile558fs)
|
|
|
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs)
|
rs515726073
|
|
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer)
|
rs515726073
|
|
NM_024675.4(PALB2):c.1677dup (p.Val560fs)
|
|
|
NM_024675.4(PALB2):c.1685-1G>A
|
rs1057520645
|
|
NM_024675.4(PALB2):c.1685-1G>C
|
rs1057520645
|
|
NM_024675.4(PALB2):c.1685-2A>G
|
rs754660432
|
|
NM_024675.4(PALB2):c.1685-7T>G
|
rs1555460705
|
|
NM_024675.4(PALB2):c.1704_1707del (p.Lys569fs)
|
rs1060502759
|
|
NM_024675.4(PALB2):c.1706_1707del (p.Lys569fs)
|
rs1060502759
|
|
NM_024675.4(PALB2):c.1708G>A (p.Glu570Lys)
|
rs786203747
|
|
NM_024675.4(PALB2):c.1714del (p.Ser572fs)
|
rs879254121
|
|
NM_024675.4(PALB2):c.1723del (p.Trp575fs)
|
|
|
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)
|
rs730881876
|
|
NM_024675.4(PALB2):c.1725G>A (p.Trp575Ter)
|
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.1733del (p.Ser578fs)
|
|
|
NM_024675.4(PALB2):c.1740T>G (p.Tyr580Ter)
|
|
|
NM_024675.4(PALB2):c.1741_1744del (p.Leu581fs)
|
rs1555460671
|
|
NM_024675.4(PALB2):c.1742del (p.Leu581fs)
|
rs1060502803
|
|
NM_024675.4(PALB2):c.1753del (p.Asp585fs)
|
rs1555460670
|
|
NM_024675.4(PALB2):c.1786G>T (p.Gly596Ter)
|
rs1966866081
|
|
NM_024675.4(PALB2):c.1789del (p.Met597fs)
|
rs1555460650
|
|
NM_024675.4(PALB2):c.178C>T (p.Gln60Ter)
|
rs886039747
|
|
NM_024675.4(PALB2):c.1796_1805del (p.Ser599fs)
|
|
|
NM_024675.4(PALB2):c.1799T>G (p.Leu600Ter)
|
rs1966865838
|
|
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter)
|
rs876660475
|
|
NM_024675.4(PALB2):c.1807del (p.Leu603fs)
|
rs2142388816
|
|
NM_024675.4(PALB2):c.1815_1843del (p.Ser605_Phe606insTer)
|
|
|
NM_024675.4(PALB2):c.1817_1818del (p.Phe606fs)
|
rs1060499818
|
|
NM_024675.4(PALB2):c.1819del (p.Leu607fs)
|
|
|
NM_024675.4(PALB2):c.181C>T (p.Gln61Ter)
|
rs1967100637
|
|
NM_024675.4(PALB2):c.1824dup (p.Ile609fs)
|
rs1966865368
|
|
NM_024675.4(PALB2):c.1837C>T (p.Gln613Ter)
|
rs1966865214
|
|
NM_024675.4(PALB2):c.1838del (p.Gln613fs)
|
rs1057517602
|
|
NM_024675.4(PALB2):c.1841T>A (p.Leu614Ter)
|
|
|
NM_024675.4(PALB2):c.1857del (p.Phe619fs)
|
rs1966864847
|
|
NM_024675.4(PALB2):c.1858G>T (p.Gly620Ter)
|
|
|
NM_024675.4(PALB2):c.185del (p.Asp62fs)
|
|
|
NM_024675.4(PALB2):c.1880_1881del (p.Val627fs)
|
rs1597090903
|
|
NM_024675.4(PALB2):c.1892C>G (p.Ser631Ter)
|
|
|
NM_024675.4(PALB2):c.18G>A (p.Gly6=)
|
rs587782462
|
|
NM_024675.4(PALB2):c.18G>T (p.Gly6=)
|
rs587782462
|
|
NM_024675.4(PALB2):c.1915G>T (p.Glu639Ter)
|
rs1555460592
|
|
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter)
|
rs760094988
|
|
NM_024675.4(PALB2):c.1919C>G (p.Ser640Ter)
|
rs760094988
|
|
NM_024675.4(PALB2):c.191C>A (p.Ser64Ter)
|
|
|
NM_024675.4(PALB2):c.1924del (p.Met642fs)
|
rs730881865
|
|
NM_024675.4(PALB2):c.1926del (p.Met642fs)
|
|
|
NM_024675.4(PALB2):c.1945A>T (p.Lys649Ter)
|
rs1555460579
|
|
NM_024675.4(PALB2):c.1947dup (p.Glu650fs)
|
rs515726075
|
|
NM_024675.4(PALB2):c.1948G>T (p.Glu650Ter)
|
|
|
NM_024675.4(PALB2):c.1952_1955dup (p.Ser652fs)
|
|
|
NM_024675.4(PALB2):c.1965del (p.Pro656fs)
|
rs1597090596
|
|
NM_024675.4(PALB2):c.1965dup (p.Pro656fs)
|
rs1597090596
|
|
NM_024675.4(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656fs)
|
rs786204129
|
|
NM_024675.4(PALB2):c.1968_1976delinsGG (p.Glu657fs)
|
|
|
NM_024675.4(PALB2):c.1969_1981dup (p.Pro661fs)
|
rs1966862408
|
|
NM_024675.4(PALB2):c.1972G>T (p.Glu658Ter)
|
rs1555460542
|
|
NM_024675.4(PALB2):c.1972del (p.Glu658fs)
|
rs1555460548
|
|
NM_024675.4(PALB2):c.1984A>T (p.Lys662Ter)
|
rs1555460533
|
|
NM_024675.4(PALB2):c.1990_1991insGTTC (p.Met664fs)
|
rs2142384044
|
|
NM_024675.4(PALB2):c.199del (p.Gln66_Leu67insTer)
|
|
|
NM_024675.4(PALB2):c.1A>G (p.Met1Val)
|
rs879254144
|
|
NM_024675.4(PALB2):c.2005del (p.Glu669fs)
|
|
|
NM_024675.4(PALB2):c.2006del (p.Glu669fs)
|
rs587778584
|
|
NM_024675.4(PALB2):c.2016_2017insT (p.Glu673Ter)
|
rs1966861886
|
|
NM_024675.4(PALB2):c.2016dup (p.Glu673fs)
|
rs1966861906
|
|
NM_024675.4(PALB2):c.201_204dup (p.His69fs)
|
|
|
NM_024675.4(PALB2):c.2032del (p.Leu678fs)
|
rs730881866
|
|
NM_024675.4(PALB2):c.2038G>T (p.Gly680Ter)
|
|
|
NM_024675.4(PALB2):c.204del (p.Lys68fs)
|
rs1555462031
|
|
NM_024675.4(PALB2):c.2052del (p.Arg686fs)
|
rs587782680
|
|
NM_024675.4(PALB2):c.2066C>A (p.Ser689Ter)
|
rs749602688
|
|
NM_024675.4(PALB2):c.2066C>T (p.Ser689Leu)
|
rs749602688
|
|
NM_024675.4(PALB2):c.2067G>T (p.Ser689=)
|
rs371149159
|
|
NM_024675.4(PALB2):c.2067_2068delinsTT (p.Gln690Ter)
|
rs2142382015
|
|
NM_024675.4(PALB2):c.2068C>T (p.Gln690Ter)
|
|
|
NM_024675.4(PALB2):c.2072del (p.Ser691fs)
|
|
|
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)
|
rs587776415
|
|
NM_024675.4(PALB2):c.2083A>T (p.Lys695Ter)
|
rs1567218141
|
|
NM_024675.4(PALB2):c.2092del (p.Leu698fs)
|
rs1060499819
|
|
NM_024675.4(PALB2):c.2095dup (p.Ser699fs)
|
|
|
NM_024675.4(PALB2):c.209C>G (p.Ser70Ter)
|
rs763745734
|
|
NM_024675.4(PALB2):c.20dup (p.Pro8fs)
|
|
|
NM_024675.4(PALB2):c.2100_2110del (p.Ser701fs)
|
rs1555460490
|
|
NM_024675.4(PALB2):c.2104_2107delinsTAA (p.Ile702_Leu703delinsTer)
|
|
|
NM_024675.4(PALB2):c.2105dup (p.Leu703fs)
|
rs2142381049
|
|
NM_024675.4(PALB2):c.212-24TA[4]
|
rs751741705
|
|
NM_024675.4(PALB2):c.2120del (p.Pro707fs)
|
rs587780210
|
|
NM_024675.4(PALB2):c.2123T>A (p.Leu708Ter)
|
rs1597090059
|
|
NM_024675.4(PALB2):c.2128dup (p.Thr710fs)
|
|
|
NM_024675.4(PALB2):c.2130G>A (p.Thr710=)
|
rs774049060
|
|
NM_024675.4(PALB2):c.2139_2178del (p.Asp714fs)
|
|
|
NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs)
|
rs515726081
|
|
NM_024675.4(PALB2):c.2154del (p.Arg718fs)
|
rs730881867
|
|
NM_024675.4(PALB2):c.2160_2161insG (p.Thr721fs)
|
rs1555460465
|
|
NM_024675.4(PALB2):c.2161_2186dup (p.Ile730fs)
|
|
|
NM_024675.4(PALB2):c.2161del (p.Thr721fs)
|
rs1597089904
|
|
NM_024675.4(PALB2):c.2174C>G (p.Ser725Ter)
|
|
|
NM_024675.4(PALB2):c.2176C>T (p.Pro726Ser)
|
rs566813395
|
|
NM_024675.4(PALB2):c.2177dup (p.Ala727fs)
|
|
|
NM_024675.4(PALB2):c.2183del (p.Phe728fs)
|
|
|
NM_024675.4(PALB2):c.2185_2186insA (p.Pro729fs)
|
rs1597089845
|
|
NM_024675.4(PALB2):c.2187del (p.Ile730fs)
|
rs1567217908
|
|
NM_024675.4(PALB2):c.2190del (p.Ile730_Leu731insTer)
|
|
|
NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)
|
rs1567217898
|
|
NM_024675.4(PALB2):c.2194_2200del (p.Gly732fs)
|
rs1555460457
|
|
NM_024675.4(PALB2):c.2197ACT[1] (p.Thr734del)
|
rs781693946
|
|
NM_024675.4(PALB2):c.2205dup (p.Ala736fs)
|
|
|
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)
|
rs1555460445
|
|
NM_024675.4(PALB2):c.2219_2220del (p.Gln740fs)
|
rs1555460442
|
|
NM_024675.4(PALB2):c.2223_2224delinsG
|
rs1567217830
|
|
NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter)
|
rs730881888
|
|
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)
|
rs1555461875
|
|
NM_024675.4(PALB2):c.2244_2247dup (p.Val750fs)
|
|
|
NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter)
|
rs1555460431
|
|
NM_024675.4(PALB2):c.224_228del (p.Lys75fs)
|
rs1064795640
|
|
NM_024675.4(PALB2):c.2255_2267dup (p.Cys756fs)
|
rs1555460423
|
|
NM_024675.4(PALB2):c.2261del (p.Thr754fs)
|
|
|
NM_024675.4(PALB2):c.2263_2266dup (p.Cys756fs)
|
|
|
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs)
|
rs755471995
|
|
NM_024675.4(PALB2):c.226del (p.Ile76fs)
|
rs587782443
|
|
NM_024675.4(PALB2):c.2275C>T (p.Gln759Ter)
|
rs515726083
|
|
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)
|
rs876659571
|
|
NM_024675.4(PALB2):c.228_229del (p.Ile76fs)
|
rs1555461870
|
|
NM_024675.4(PALB2):c.2292dup (p.Asp765fs)
|
|
|
NM_024675.4(PALB2):c.2296_2297del (p.Val767fs)
|
rs876658170
|
|
NM_024675.4(PALB2):c.2297C>A (p.Ser766Ter)
|
|
|
NM_024675.4(PALB2):c.2298dup (p.Val767fs)
|
rs1555460407
|
|
NM_024675.4(PALB2):c.2305del (p.Ala770fs)
|
|
|
NM_024675.4(PALB2):c.2310del (p.Ser771fs)
|
|
|
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)
|
rs180177111
|
|
NM_024675.4(PALB2):c.2325dup (p.Phe776fs)
|
rs876659997
|
|
NM_024675.4(PALB2):c.2326T>C (p.Phe776Leu)
|
rs764925691
|
|
NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter)
|
rs1833331932
|
|
NM_024675.4(PALB2):c.2353C>T (p.Pro785Ser)
|
rs730881889
|
|
NM_024675.4(PALB2):c.2353_2354del (p.Pro785fs)
|
rs2142374907
|
|
NM_024675.4(PALB2):c.2359dup (p.Thr787fs)
|
rs2142374794
|
|
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)
|
rs886039480
|
|
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)
|
rs1060502748
|
|
NM_024675.4(PALB2):c.2382_2394delinsTC (p.Arg794fs)
|
|
|
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter)
|
rs1060502768
|
|
NM_024675.4(PALB2):c.2391del (p.Gln797fs)
|
rs1555460360
|
|
NM_024675.4(PALB2):c.2393_2394dup (p.Thr799fs)
|
rs1966856749
|
|
NM_024675.4(PALB2):c.2405del (p.Cys802fs)
|
rs1966856604
|
|
NM_024675.4(PALB2):c.2406_2407del (p.Cys802_Asp803delinsTer)
|
rs1966856585
|
|
NM_024675.4(PALB2):c.2408_2409dup (p.Ser804fs)
|
|
|
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)
|
rs747148023
|
|
NM_024675.4(PALB2):c.2425_2432delinsCAG (p.Thr809fs)
|
|
|
NM_024675.4(PALB2):c.2425del (p.Thr809fs)
|
|
|
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs)
|
rs1555460334
|
|
NM_024675.4(PALB2):c.2441_2447del (p.Glu814fs)
|
|
|
NM_024675.4(PALB2):c.2444C>A (p.Ser815Ter)
|
|
|
NM_024675.4(PALB2):c.2444C>G (p.Ser815Ter)
|
|
|
NM_024675.4(PALB2):c.2444_2451delinsGGTGGTG (p.Ser815fs)
|
|
|
NM_024675.4(PALB2):c.2453_2455delinsCT (p.Phe818fs)
|
|
|
NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs)
|
rs1555460325
|
|
NM_024675.4(PALB2):c.2462del (p.Asn821fs)
|
|
|
NM_024675.4(PALB2):c.2463delinsAA (p.Asn821fs)
|
|
|
NM_024675.4(PALB2):c.2464C>T (p.Gln822Ter)
|
rs1555460323
|
|
NM_024675.4(PALB2):c.2469C>G (p.Leu823=)
|
rs515726087
|
|
NM_024675.4(PALB2):c.2470del (p.Cys824fs)
|
rs876658348
|
|
NM_024675.4(PALB2):c.2470dup (p.Cys824fs)
|
rs863224521
|
|
NM_024675.4(PALB2):c.2477del (p.Asn826fs)
|
|
|
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs)
|
rs1555460315
|
|
NM_024675.4(PALB2):c.2485C>T (p.Gln829Ter)
|
rs1966855759
|
|
NM_024675.4(PALB2):c.2488del (p.Glu830fs)
|
rs876658813
|
|
NM_024675.4(PALB2):c.2498_2505del (p.Lys833fs)
|
|
|
NM_024675.4(PALB2):c.249del (p.His83fs)
|
|
|
NM_024675.4(PALB2):c.2503del (p.Ser835fs)
|
|
|
NM_024675.4(PALB2):c.2507_2509del (p.Val836del)
|
rs587782697
|
|
NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter)
|
rs587778587
|
|
NM_024675.4(PALB2):c.2509_2514+9del
|
|
|
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)
|
rs750650768
|
|
NM_024675.4(PALB2):c.2514+1G>A
|
rs886039729
|
|
NM_024675.4(PALB2):c.2514+1G>C
|
rs886039729
|
|
NM_024675.4(PALB2):c.2528del (p.Glu843fs)
|
|
|
NM_024675.4(PALB2):c.2534_2540del (p.Pro845fs)
|
|
|
NM_024675.4(PALB2):c.2549dup (p.Asn851fs)
|
|
|
NM_024675.4(PALB2):c.2552_2556del (p.Asn851fs)
|
|
|
NM_024675.4(PALB2):c.2552dup (p.Asn851fs)
|
|
|
NM_024675.4(PALB2):c.2560_2561del (p.Asn854fs)
|
rs1597088146
|
|
NM_024675.4(PALB2):c.2563del (p.Leu855fs)
|
rs1966853795
|
|
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)
|
rs770996884
|
|
NM_024675.4(PALB2):c.2570dup (p.Leu857fs)
|
|
|
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter)
|
rs1057517539
|
|
NM_024675.4(PALB2):c.2579del (p.Glu860fs)
|
|
|
NM_024675.4(PALB2):c.2585del (p.Lys862fs)
|
rs752513498
|
|
NM_024675.4(PALB2):c.2587-1G>A
|
|
|
NM_024675.4(PALB2):c.2587-1G>C
|
rs761214886
|
|
NM_024675.4(PALB2):c.2587-2A>C
|
rs1060502787
|
|
NM_024675.4(PALB2):c.2594C>G (p.Ser865Ter)
|
rs746604683
|
|
NM_024675.4(PALB2):c.25C>T (p.Leu9Phe)
|
rs1060502744
|
|
NM_024675.4(PALB2):c.2604T>A (p.Cys868Ter)
|
|
|
NM_024675.4(PALB2):c.2604_2611del (p.Cys868_Asp871delinsTer)
|
rs1966842803
|
|
NM_024675.4(PALB2):c.2607C>T (p.Ser869=)
|
rs45542234
|
|
NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer)
|
rs767633741
|
|
NM_024675.4(PALB2):c.2607dup (p.Val870fs)
|
rs767633741
|
|
NM_024675.4(PALB2):c.2613del (p.Asp871fs)
|
|
|
NM_024675.4(PALB2):c.261dup (p.Leu88fs)
|
|
|
NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter)
|
rs876660678
|
|
NM_024675.4(PALB2):c.2630_2643dup (p.Cys882fs)
|
rs2142355316
|
|
NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter)
|
rs1555459999
|
|
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs)
|
rs876660643
|
|
NM_024675.4(PALB2):c.2635A>T (p.Arg879Ter)
|
|
|
NM_024675.4(PALB2):c.2641_2654del (p.Gly881fs)
|
|
|
NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs)
|
rs730881868
|
|
NM_024675.4(PALB2):c.2647A>T (p.Lys883Ter)
|
|
|
NM_024675.4(PALB2):c.2649dup (p.Glu884fs)
|
|
|
NM_024675.4(PALB2):c.264del (p.Asp89fs)
|
|
|
NM_024675.4(PALB2):c.2650G>T (p.Glu884Ter)
|
rs1304351755
|
|
NM_024675.4(PALB2):c.2655_2656insG (p.Cys886fs)
|
|
|
NM_024675.4(PALB2):c.2658T>A (p.Cys886Ter)
|
|
|
NM_024675.4(PALB2):c.2673C>A (p.Cys891Ter)
|
rs78179744
|
|
NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter)
|
rs45476495
|
|
NM_024675.4(PALB2):c.2686dup (p.Ser896fs)
|
rs1555459954
|
|
NM_024675.4(PALB2):c.268G>T (p.Glu90Ter)
|
|
|
NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter)
|
rs876658983
|
|
NM_024675.4(PALB2):c.2694G>A (p.Trp898Ter)
|
rs1555459949
|
|
NM_024675.4(PALB2):c.2702del (p.Leu901fs)
|
|
|
NM_024675.4(PALB2):c.2711G>A (p.Trp904Ter)
|
rs1060502726
|
|
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter)
|
rs587781457
|
|
NM_024675.4(PALB2):c.2712del (p.Trp904fs)
|
|
|
NM_024675.4(PALB2):c.2716del (p.Trp906fs)
|
rs1966842388
|
|
NM_024675.4(PALB2):c.2717G>A (p.Trp906Ter)
|
|
|
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)
|
rs180177122
|
|
NM_024675.4(PALB2):c.2719del (p.Glu907fs)
|
rs1555459934
|
|
NM_024675.4(PALB2):c.2725del (p.Leu909fs)
|
|
|
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)
|
rs730881869
|
|
NM_024675.4(PALB2):c.2728del (p.Tyr910fs)
|
rs730881869
|
|
NM_024675.4(PALB2):c.2735G>A (p.Trp912Ter)
|
|
|
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter)
|
rs1555459925
|
|
NM_024675.4(PALB2):c.2743dup (p.Ala915fs)
|
|
|
NM_024675.4(PALB2):c.2747_2748+4del
|
rs786203892
|
|
NM_024675.4(PALB2):c.2748+1G>A
|
rs753153576
|
|
NM_024675.4(PALB2):c.2748+1G>T
|
rs753153576
|
|
NM_024675.4(PALB2):c.2748+2T>A
|
|
|
NM_024675.4(PALB2):c.2748+2T>C
|
rs1060499821
|
|
NM_024675.4(PALB2):c.2749-16_2749-14del
|
rs765742648
|
|
NM_024675.4(PALB2):c.2749-1G>T
|
rs1060502804
|
|
NM_024675.4(PALB2):c.2749-2A>C
|
rs1555459747
|
|
NM_024675.4(PALB2):c.2749-3_2749-1delinsAA
|
|
|
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser)
|
rs515726094
|
|
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter)
|
rs1567214493
|
|
NM_024675.4(PALB2):c.2759dup (p.Leu920fs)
|
|
|
NM_024675.4(PALB2):c.2760dup (p.Gln921fs)
|
rs876660147
|
|
NM_024675.4(PALB2):c.2761C>T (p.Gln921Ter)
|
rs180177124
|
|
NM_024675.4(PALB2):c.2762del (p.Gln921fs)
|
rs1567214484
|
|
NM_024675.4(PALB2):c.2767del (p.Val923fs)
|
|
|
NM_024675.4(PALB2):c.2771del (p.Pro924fs)
|
rs2142344237
|
|
NM_024675.4(PALB2):c.2773del (p.Val925fs)
|
rs1597082860
|
|
NM_024675.4(PALB2):c.2787_2802del (p.Val928_Tyr929insTer)
|
|
|
NM_024675.4(PALB2):c.2800_2801del (p.Val934fs)
|
rs2142343437
|
|
NM_024675.4(PALB2):c.2815_2822del (p.Leu939fs)
|
|
|
NM_024675.4(PALB2):c.2818del (p.Glu940fs)
|
rs1555459709
|
|
NM_024675.4(PALB2):c.2820_2821del (p.Glu940fs)
|
|
|
NM_024675.4(PALB2):c.2821del (p.Ile941fs)
|
|
|
NM_024675.4(PALB2):c.2827_2830del (p.Glu943fs)
|
rs1224428422
|
|
NM_024675.4(PALB2):c.2832del (p.Arg945fs)
|
rs1060499823
|
|
NM_024675.4(PALB2):c.2834+1G>A
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+1G>T
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+2T>A
|
|
|
NM_024675.4(PALB2):c.2834+2T>C
|
rs864622481
|
|
NM_024675.4(PALB2):c.2835-1G>A
|
rs515726099
|
|
NM_024675.4(PALB2):c.2835-1G>C
|
rs515726099
|
|
NM_024675.4(PALB2):c.2835-2A>C
|
rs886039613
|
|
NM_024675.4(PALB2):c.2835-2A>G
|
|
|
NM_024675.4(PALB2):c.2835-70_2860del
|
|
|
NM_024675.4(PALB2):c.2836G>T (p.Ala946Ser)
|
rs878855113
|
|
NM_024675.4(PALB2):c.2838_2842del (p.Cys949fs)
|
rs1597081571
|
|
NM_024675.4(PALB2):c.2845del (p.Cys949fs)
|
|
|
NM_024675.4(PALB2):c.2850del (p.Ser951fs)
|
rs1060499824
|
|
NM_024675.4(PALB2):c.2852C>T (p.Ser951Phe)
|
rs587782889
|
|
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter)
|
rs1219715328
|
|
NM_024675.4(PALB2):c.2870del (p.Lys957fs)
|
|
|
NM_024675.4(PALB2):c.2878del (p.Leu960fs)
|
rs1064795824
|
|
NM_024675.4(PALB2):c.2888_2902delinsA (p.Ser963fs)
|
|
|
NM_024675.4(PALB2):c.290C>T (p.Ser97Phe)
|
rs776902295
|
|
NM_024675.4(PALB2):c.2915del (p.Leu972fs)
|
rs1555459553
|
|
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)
|
rs180177126
|
|
NM_024675.4(PALB2):c.2923_2924del (p.Arg975fs)
|
rs1966801432
|
|
NM_024675.4(PALB2):c.2931dup (p.Val978fs)
|
rs587782570
|
|
NM_024675.4(PALB2):c.2936del (p.Ser979fs)
|
rs1060502781
|
|
NM_024675.4(PALB2):c.2938del (p.Ser980fs)
|
rs1555459540
|
|
NM_024675.4(PALB2):c.2953del (p.Ser985fs)
|
rs1597081202
|
|
NM_024675.4(PALB2):c.295dup (p.Thr99fs)
|
|
|
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)
|
rs118203999
|
|
NM_024675.4(PALB2):c.2962_2963del (p.Gln988fs)
|
rs1555459528
|
|
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)
|
rs587781840
|
|
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)
|
rs876659036
|
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NM_024675.4(PALB2):c.2974_2975del (p.Met992fs)
|
rs1966798806
|
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NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs)
|
rs1555459520
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NM_024675.4(PALB2):c.2978_2994del (p.Thr993fs)
|
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NM_024675.4(PALB2):c.2982dup (p.Ala995fs)
|
rs180177127
|
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NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)
|
rs786203775
|
|
NM_024675.4(PALB2):c.298del (p.Asp101fs)
|
|
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NM_024675.4(PALB2):c.2994del (p.Gly999fs)
|
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NM_024675.4(PALB2):c.2995G>T (p.Gly999Ter)
|
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NM_024675.4(PALB2):c.2996+5G>T
|
rs879254193
|
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NM_024675.4(PALB2):c.2996+9del
|
rs769414858
|
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NM_024675.4(PALB2):c.2997-1G>A
|
rs754465466
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NM_024675.4(PALB2):c.2997-2A>G
|
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NM_024675.4(PALB2):c.2999_3001delinsAC (p.Gly1000fs)
|
rs1597079941
|
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NM_024675.4(PALB2):c.2999del (p.Gly1000fs)
|
rs1966773290
|
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NM_024675.4(PALB2):c.2T>C (p.Met1Thr)
|
rs756519825
|
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NM_024675.4(PALB2):c.2T>G (p.Met1Arg)
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NM_024675.4(PALB2):c.3004G>T (p.Glu1002Ter)
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NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs)
|
rs786203488
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NM_024675.4(PALB2):c.3004_3008del (p.Glu1002fs)
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NM_024675.4(PALB2):c.3008_3009delinsTTACAGAGG (p.Asn1003fs)
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NM_024675.4(PALB2):c.3008dup (p.Asn1003fs)
|
rs1567213009
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NM_024675.4(PALB2):c.3010C>T (p.Gln1004Ter)
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NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)
|
rs886039683
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NM_024675.4(PALB2):c.3017dup (p.Leu1006fs)
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NM_024675.4(PALB2):c.3026_3027insA (p.Pro1009_Glu1010insTer)
|
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NM_024675.4(PALB2):c.3026del (p.Pro1009fs)
|
rs180177131
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NM_024675.4(PALB2):c.3027del (p.Glu1010fs)
|
rs876659378
|
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NM_024675.4(PALB2):c.3028G>T (p.Glu1010Ter)
|
rs1966771907
|
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NM_024675.4(PALB2):c.3031_3046del (p.Glu1011fs)
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NM_024675.4(PALB2):c.3038_3039del (p.Ile1013fs)
|
rs1597079810
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NM_024675.4(PALB2):c.3048del (p.Phe1016fs)
|
rs515726104
|
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NM_024675.4(PALB2):c.3048dup (p.Ala1017fs)
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NM_024675.4(PALB2):c.3058C>T (p.Gln1020Ter)
|
rs2142327117
|
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NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs)
|
rs1597079711
|
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NM_024675.4(PALB2):c.306del (p.Pro104fs)
|
|
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NM_024675.4(PALB2):c.3072del (p.Ala1025fs)
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NM_024675.4(PALB2):c.3074dup (p.Leu1026fs)
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NM_024675.4(PALB2):c.3077dup (p.Leu1027fs)
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NM_024675.4(PALB2):c.3105del (p.Ile1035fs)
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NM_024675.4(PALB2):c.3113+1G>A
|
rs1597079557
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NM_024675.4(PALB2):c.3113+1G>C
|
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NM_024675.4(PALB2):c.3113G>C (p.Trp1038Ser)
|
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NM_024675.4(PALB2):c.3114-1G>A
|
rs886039619
|
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NM_024675.4(PALB2):c.3114-2A>G
|
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NM_024675.4(PALB2):c.3114-57_3120del
|
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NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter)
|
rs778345761
|
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NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
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NM_024675.4(PALB2):c.3119T>A (p.Leu1040Ter)
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NM_024675.4(PALB2):c.3119T>G (p.Leu1040Ter)
|
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NM_024675.4(PALB2):c.3129dup (p.Gln1044fs)
|
rs1567209922
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NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter)
|
rs766394024
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NM_024675.4(PALB2):c.3139A>T (p.Lys1047Ter)
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NM_024675.4(PALB2):c.313G>T (p.Glu105Ter)
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NM_024675.4(PALB2):c.3143del (p.Lys1048fs)
|
rs1555458822
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NM_024675.4(PALB2):c.314_315del (p.Glu105fs)
|
rs1967055393
|
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NM_024675.4(PALB2):c.3161del (p.Ser1054fs)
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NM_024675.4(PALB2):c.3164dup (p.Tyr1055Ter)
|
rs1567209835
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NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter)
|
rs876658157
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NM_024675.4(PALB2):c.3165C>G (p.Tyr1055Ter)
|
rs876658157
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NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter)
|
rs1021662947
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NM_024675.4(PALB2):c.3179_3180del (p.Cys1060fs)
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NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter)
|
rs2142298948
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NM_024675.4(PALB2):c.3186del (p.Ala1063fs)
|
rs869312774
|
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NM_024675.4(PALB2):c.31del (p.Cys11fs)
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NM_024675.4(PALB2):c.3201+1G>A
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NM_024675.4(PALB2):c.3201+1G>C
|
rs587776423
|
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NM_024675.4(PALB2):c.3202-15_3209del
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NM_024675.4(PALB2):c.3202-1G>A
|
rs515726111
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NM_024675.4(PALB2):c.3202-1G>C
|
rs515726111
|
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NM_024675.4(PALB2):c.3202-2A>C
|
rs1060499827
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NM_024675.4(PALB2):c.3202-2_3207del
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NM_024675.4(PALB2):c.3202-34_3305del
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NM_024675.4(PALB2):c.3210_3211del (p.Phe1071fs)
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NM_024675.4(PALB2):c.3214_3216delinsTCCAA (p.Ile1072fs)
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NM_024675.4(PALB2):c.3228_3244dup (p.Ser1082fs)
|
rs786202008
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NM_024675.4(PALB2):c.3228del (p.Cys1078fs)
|
rs1555458223
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NM_024675.4(PALB2):c.3231del (p.Cys1078fs)
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NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter)
|
rs886039634
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NM_024675.4(PALB2):c.3238A>T (p.Lys1080Ter)
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NM_024675.4(PALB2):c.3239_3240del (p.Lys1080fs)
|
rs879254060
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NM_024675.4(PALB2):c.3241G>T (p.Glu1081Ter)
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NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer)
|
rs886039503
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NM_024675.4(PALB2):c.3246_3247del (p.Ser1082fs)
|
rs876658136
|
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NM_024675.4(PALB2):c.3247_3248insT (p.Glu1083fs)
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NM_024675.4(PALB2):c.3247_3253dup (p.Leu1085Ter)
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NM_024675.4(PALB2):c.3249_3253delinsAGCC
|
rs1567206909
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NM_024675.4(PALB2):c.3256del (p.Arg1086fs)
|
rs1057517600
|
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NM_024675.4(PALB2):c.3264del (p.Val1089fs)
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|
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NM_024675.4(PALB2):c.326del (p.Pro109fs)
|
rs2142445986
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NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter)
|
rs864622138
|
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NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs)
|
rs587782337
|
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NM_024675.4(PALB2):c.3291_3300delinsACG (p.Lys1098fs)
|
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NM_024675.4(PALB2):c.3291del (p.Lys1098fs)
|
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NM_024675.4(PALB2):c.3295_3305del (p.Thr1099fs)
|
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NM_024675.4(PALB2):c.3296dup (p.Thr1100fs)
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NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs)
|
rs1567206823
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NM_024675.4(PALB2):c.3298_3305dup (p.Ser1102fs)
|
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NM_024675.4(PALB2):c.3298_3307del (p.Thr1100fs)
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NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs)
|
rs1555458187
|
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NM_024675.4(PALB2):c.3302_3306dup (p.Val1103fs)
|
|
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NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg)
|
rs515726112
|
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NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu)
|
rs201657283
|
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NM_024675.4(PALB2):c.3313dup (p.Val1105fs)
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|
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NM_024675.4(PALB2):c.3323_3327del (p.Tyr1108fs)
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|
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NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter)
|
rs1218512317
|
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NM_024675.4(PALB2):c.3332del (p.Pro1111fs)
|
rs1597066595
|
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NM_024675.4(PALB2):c.3333_3337delinsCCA (p.Pro1112fs)
|
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NM_024675.4(PALB2):c.3333del (p.Pro1112fs)
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NM_024675.4(PALB2):c.3339del (p.Gln1114fs)
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|
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NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter)
|
rs1567206756
|
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NM_024675.4(PALB2):c.3347_3348del (p.Gly1116fs)
|
|
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NM_024675.4(PALB2):c.3350+1G>A
|
rs864622192
|
|
NM_024675.4(PALB2):c.3350+2C>A
|
|
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NM_024675.4(PALB2):c.3350+2C>G
|
rs1555458171
|
|
NM_024675.4(PALB2):c.3350+2C>T
|
|
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NM_024675.4(PALB2):c.3350+4A>G
|
rs180177136
|
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NM_024675.4(PALB2):c.3351-1G>C
|
rs1597062406
|
|
NM_024675.4(PALB2):c.3351-2A>G
|
rs1060502764
|
|
NM_024675.4(PALB2):c.3358G>T (p.Glu1120Ter)
|
rs876658773
|
|
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)
|
rs515726117
|
|
NM_024675.4(PALB2):c.3374_3395del (p.Asp1125fs)
|
rs876660574
|
|
NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr)
|
rs876658196
|
|
NM_024675.4(PALB2):c.3394_3395del (p.Leu1132fs)
|
|
|
NM_024675.4(PALB2):c.3395T>A (p.Leu1132Ter)
|
rs1597062296
|
|
NM_024675.4(PALB2):c.3395_3402dup (p.Gly1135Ter)
|
|
|
NM_024675.4(PALB2):c.33T>A (p.Cys11Ter)
|
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NM_024675.4(PALB2):c.3403G>T (p.Gly1135Ter)
|
|
|
NM_024675.4(PALB2):c.3411del (p.Ile1137fs)
|
|
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NM_024675.4(PALB2):c.3412del (p.Ala1138fs)
|
|
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NM_024675.4(PALB2):c.3419G>A (p.Trp1140Ter)
|
|
|
NM_024675.4(PALB2):c.3425T>G (p.Leu1142Ter)
|
rs1555457878
|
|
NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs)
|
rs587776424
|
|
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs)
|
rs587776425
|
|
NM_024675.4(PALB2):c.3433_3436del (p.Gly1145fs)
|
|
|
NM_024675.4(PALB2):c.3436C>T (p.Gln1146Ter)
|
rs879254033
|
|
NM_024675.4(PALB2):c.343G>T (p.Gly115Ter)
|
rs1597099523
|
|
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter)
|
rs1555457867
|
|
NM_024675.4(PALB2):c.3449_3455del (p.Leu1150fs)
|
|
|
NM_024675.4(PALB2):c.3452_3454delinsCT (p.Leu1151fs)
|
|
|
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)
|
rs587776426
|
|
NM_024675.4(PALB2):c.3464_3465del (p.Val1154_Ser1155insTer)
|
rs2142253220
|
|
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter)
|
rs1597062038
|
|
NM_024675.4(PALB2):c.3476G>A (p.Trp1159Ter)
|
rs587782050
|
|
NM_024675.4(PALB2):c.347T>A (p.Leu116Ter)
|
rs876660465
|
|
NM_024675.4(PALB2):c.347dup (p.Leu116fs)
|
|
|
NM_024675.4(PALB2):c.3483del (p.Phe1161fs)
|
rs2142252781
|
|
NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter)
|
rs879254113
|
|
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)
|
rs587782217
|
|
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter)
|
rs773829275
|
|
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)
|
rs587776428
|
|
NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter)
|
rs1555457841
|
|
NM_024675.4(PALB2):c.3537_3547delinsAATGTAG (p.Asn1179_Tyr1183delinsLysMetTer)
|
|
|
NM_024675.4(PALB2):c.3540_3543del (p.Ile1180fs)
|
rs1567204932
|
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
rs118203998
|
|
NM_024675.4(PALB2):c.355del (p.Gln119fs)
|
rs1060502760
|
|
NM_024675.4(PALB2):c.373del (p.Gln125fs)
|
|
|
NM_024675.4(PALB2):c.3G>A (p.Met1Ile)
|
rs1057517585
|
|
NM_024675.4(PALB2):c.3G>T (p.Met1Ile)
|
|
|
NM_024675.4(PALB2):c.412G>T (p.Glu138Ter)
|
|
|
NM_024675.4(PALB2):c.413_414dup (p.Gln139fs)
|
|
|
NM_024675.4(PALB2):c.419dup (p.Gln141fs)
|
rs1597099331
|
|
NM_024675.4(PALB2):c.421C>T (p.Gln141Ter)
|
rs886039686
|
|
NM_024675.4(PALB2):c.421del (p.Gln141fs)
|
|
|
NM_024675.4(PALB2):c.423G>A (p.Gln141=)
|
rs786202680
|
|
NM_024675.4(PALB2):c.425del (p.Lys142fs)
|
rs2142443741
|
|
NM_024675.4(PALB2):c.437GAA[1] (p.Arg147del)
|
rs760629975
|
|
NM_024675.4(PALB2):c.43G>T (p.Glu15Ter)
|
rs730881884
|
|
NM_024675.4(PALB2):c.442_457dup (p.Arg153fs)
|
rs1555461790
|
|
NM_024675.4(PALB2):c.443_446del (p.Lys148fs)
|
|
|
NM_024675.4(PALB2):c.444_445del (p.Lys149fs)
|
rs757860709
|
|
NM_024675.4(PALB2):c.444del (p.Lys149fs)
|
rs1555461796
|
|
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter)
|
rs587776407
|
|
NM_024675.4(PALB2):c.454A>T (p.Lys152Ter)
|
|
|
NM_024675.4(PALB2):c.466_467del (p.Ile156fs)
|
rs876659405
|
|
NM_024675.4(PALB2):c.470C>A (p.Ser157Ter)
|
|
|
NM_024675.4(PALB2):c.472C>T (p.Gln158Ter)
|
rs879254197
|
|
NM_024675.4(PALB2):c.475G>T (p.Glu159Ter)
|
rs1555461788
|
|
NM_024675.4(PALB2):c.48+1G>A
|
rs515726118
|
|
NM_024675.4(PALB2):c.48+1G>C
|
rs515726118
|
|
NM_024675.4(PALB2):c.48+1G>T
|
rs515726118
|
|
NM_024675.4(PALB2):c.481_482del (p.Asp161fs)
|
rs1597099149
|
|
NM_024675.4(PALB2):c.487_488del (p.Val163fs)
|
rs745533713
|
|
NM_024675.4(PALB2):c.48G>A (p.Lys16=)
|
rs587776405
|
|
NM_024675.4(PALB2):c.500_513del (p.Asp167fs)
|
rs876660719
|
|
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter)
|
rs515726122
|
|
NM_024675.4(PALB2):c.503C>G (p.Ser168Ter)
|
rs515726122
|
|
NM_024675.4(PALB2):c.508A>G (p.Arg170Gly)
|
rs864622622
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.50T>G (p.Leu17Ter)
|
rs1567224232
|
|
NM_024675.4(PALB2):c.514_517del (p.Ser172fs)
|
rs1555461765
|
|
NM_024675.4(PALB2):c.519del (p.Arg175fs)
|
|
|
NM_024675.4(PALB2):c.521_522insCA (p.Lys174fs)
|
rs1597098996
|
|
NM_024675.4(PALB2):c.523del (p.Arg175fs)
|
|
|
NM_024675.4(PALB2):c.524delinsAT (p.Arg175fs)
|
|
|
NM_024675.4(PALB2):c.527_531del (p.Leu176fs)
|
rs1597098971
|
|
NM_024675.4(PALB2):c.532G>T (p.Glu178Ter)
|
|
|
NM_024675.4(PALB2):c.532del (p.Glu178fs)
|
rs1567222725
|
|
NM_024675.4(PALB2):c.535C>T (p.Gln179Ter)
|
rs730881903
|
|
NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT (p.Glu180Ter)
|
rs1597098943
|
|
NM_024675.4(PALB2):c.541G>T (p.Glu181Ter)
|
rs864622280
|
|
NM_024675.4(PALB2):c.552del (p.Ser184fs)
|
rs1060502738
|
|
NM_024675.4(PALB2):c.557dup (p.Asn186fs)
|
rs1555461727
|
|
NM_024675.4(PALB2):c.55G>T (p.Glu19Ter)
|
|
|
NM_024675.4(PALB2):c.562del (p.Ala188fs)
|
|
|
NM_024675.4(PALB2):c.569_572delinsTTTTGT (p.Ser190fs)
|
|
|
NM_024675.4(PALB2):c.583del (p.Glu194_Ile195insTer)
|
|
|
NM_024675.4(PALB2):c.58A>T (p.Lys20Ter)
|
rs2142461082
|
|
NM_024675.4(PALB2):c.593del (p.His198fs)
|
|
|
NM_024675.4(PALB2):c.595del (p.Leu199fs)
|
rs2142439618
|
|
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer)
|
rs587782081
|
|
NM_024675.4(PALB2):c.601dup (p.Ser201fs)
|
rs886041220
|
|
NM_024675.4(PALB2):c.609del (p.Lys203fs)
|
|
|
NM_024675.4(PALB2):c.620del (p.Pro207fs)
|
rs1555461704
|
|
NM_024675.4(PALB2):c.62del (p.Lys20_Leu21insTer)
|
|
|
NM_024675.4(PALB2):c.635del (p.Pro212fs)
|
rs1555461697
|
|
NM_024675.4(PALB2):c.646del (p.Ile216fs)
|
rs1597098679
|
|
NM_024675.4(PALB2):c.654del (p.Asp219fs)
|
rs587781697
|
|
NM_024675.4(PALB2):c.658del (p.Ser220fs)
|
rs876659328
|
|
NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter)
|
rs587782531
|
|
NM_024675.4(PALB2):c.674dup (p.Thr226fs)
|
rs1967030083
|
|
NM_024675.4(PALB2):c.682del (p.Gln228fs)
|
rs1567222523
|
|
NM_024675.4(PALB2):c.688G>T (p.Glu230Ter)
|
rs730881905
|
|
NM_024675.4(PALB2):c.693del (p.Gly232fs)
|
rs875989791
|
|
NM_024675.4(PALB2):c.695del (p.Gly232fs)
|
rs1060502769
|
|
NM_024675.4(PALB2):c.697del (p.Val233fs)
|
rs180177090
|
|
NM_024675.4(PALB2):c.703dup (p.Thr235fs)
|
rs1967027806
|
|
NM_024675.4(PALB2):c.707dup (p.Leu237fs)
|
rs876658192
|
|
NM_024675.4(PALB2):c.712A>T (p.Arg238Ter)
|
rs779278389
|
|
NM_024675.4(PALB2):c.722A>G (p.Asn241Ser)
|
rs587780823
|
|
NM_024675.4(PALB2):c.722_750del (p.Asn241fs)
|
|
|
NM_024675.4(PALB2):c.72del (p.Arg26fs)
|
rs180177142
|
|
NM_024675.4(PALB2):c.734_735dup (p.Thr246fs)
|
rs749731838
|
|
NM_024675.4(PALB2):c.734del (p.Ala245fs)
|
rs2142436112
|
|
NM_024675.4(PALB2):c.73A>T (p.Lys25Ter)
|
rs1248579792
|
|
NM_024675.4(PALB2):c.740C>G (p.Thr247Arg)
|
rs587782658
|
|
NM_024675.4(PALB2):c.756dup (p.Leu253fs)
|
rs1967023691
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024675.4(PALB2):c.758_761delinsGAT (p.Leu253fs)
|
|
|
NM_024675.4(PALB2):c.759del (p.Ser254fs)
|
rs1060499830
|
|
NM_024675.4(PALB2):c.76del (p.Arg26fs)
|
rs1597101885
|
|
NM_024675.4(PALB2):c.770del (p.Gly257fs)
|
rs1555461634
|
|
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter)
|
rs1555461627
|
|
NM_024675.4(PALB2):c.782_783del (p.His261fs)
|
rs1967021173
|
|
NM_024675.4(PALB2):c.782dup (p.His261fs)
|
|
|
NM_024675.4(PALB2):c.786del (p.Glu263fs)
|
rs730881870
|
|
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter)
|
rs878855123
|
|
NM_024675.4(PALB2):c.801_802dup (p.Lys268fs)
|
rs1555461618
|
|
NM_024675.4(PALB2):c.820dup (p.Thr274fs)
|
rs1555461611
|
|
NM_024675.4(PALB2):c.821del (p.Thr274fs)
|
|
|
NM_024675.4(PALB2):c.828del (p.His276fs)
|
|
|
NM_024675.4(PALB2):c.829_832del (p.His276_Asp277insTer)
|
rs1555461602
|
|
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His)
|
rs587778582
|
|
NM_024675.4(PALB2):c.838_839del (p.Asn280fs)
|
|
|
NM_024675.4(PALB2):c.839del (p.Asn280fs)
|
rs1555461597
|
|
NM_024675.4(PALB2):c.839dup (p.Asn280fs)
|
rs1555461597
|
|
NM_024675.4(PALB2):c.841del (p.Ile281fs)
|
rs1555461595
|
|
NM_024675.4(PALB2):c.843_845del (p.Arg282del)
|
rs786203247
|
|
NM_024675.4(PALB2):c.844_847del (p.Arg282fs)
|
rs1555461586
|
|
NM_024675.4(PALB2):c.84_85del (p.Tyr28_Ser29delinsTer)
|
|
|
NM_024675.4(PALB2):c.850_866del (p.Thr284fs)
|
|
|
NM_024675.4(PALB2):c.854C>A (p.Ser285Ter)
|
|
|
NM_024675.4(PALB2):c.854C>T (p.Ser285Leu)
|
rs180177094
|
|
NM_024675.4(PALB2):c.854del (p.Ser285fs)
|
|
|
NM_024675.4(PALB2):c.860dup (p.Ser288fs)
|
rs864622301
|
|
NM_024675.4(PALB2):c.866T>A (p.Leu289Ter)
|
rs1555461574
|
|
NM_024675.4(PALB2):c.868G>T (p.Glu290Ter)
|
rs1567222143
|
|
NM_024675.4(PALB2):c.869del (p.Glu290fs)
|
|
|
NM_024675.4(PALB2):c.874C>T (p.Gln292Ter)
|
|
|
NM_024675.4(PALB2):c.87dup (p.Lys30fs)
|
|
|
NM_024675.4(PALB2):c.880A>T (p.Lys294Ter)
|
rs753676934
|
|
NM_024675.4(PALB2):c.885_886insG (p.Met296fs)
|
rs1597097936
|
|
NM_024675.4(PALB2):c.886del (p.Lys295_Met296insTer)
|
rs587776408
|
|
NM_024675.4(PALB2):c.886dup (p.Met296fs)
|
rs587776408
|
|
NM_024675.4(PALB2):c.887del (p.Met296fs)
|
rs2142432029
|
|
NM_024675.4(PALB2):c.892_893del (p.Val298fs)
|
rs2142431841
|
|
NM_024675.4(PALB2):c.898del (p.Thr300fs)
|
|
|
NM_024675.4(PALB2):c.899del (p.Thr300fs)
|
rs1555461558
|
|
NM_024675.4(PALB2):c.901_907del (p.Asp301fs)
|
rs1555461551
|
|
NM_024675.4(PALB2):c.908T>C (p.Leu303Pro)
|
rs774057025
|
|
NM_024675.4(PALB2):c.909_917delinsT (p.Leu303_Leu304insTer)
|
|
|
NM_024675.4(PALB2):c.932_933insC (p.Lys311fs)
|
rs1060502772
|
|
NM_024675.4(PALB2):c.934dup (p.Ser312fs)
|
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
NM_024675.4(PALB2):c.944_950del (p.Leu315fs)
|
|
|
NM_024675.4(PALB2):c.945_954del (p.Pro316fs)
|
|
|
NM_024675.4(PALB2):c.948del (p.Thr317fs)
|
rs730881871
|
|
NM_024675.4(PALB2):c.952del (p.Ser318fs)
|
|
|
NM_024675.4(PALB2):c.953_954del (p.Ser318fs)
|
rs1060502800
|
|
NM_024675.4(PALB2):c.956_962del (p.Ser318_Ser319insTer)
|
rs587776409
|
|
NM_024675.4(PALB2):c.962T>G (p.Leu321Ter)
|
|
|
NM_024675.4(PALB2):c.964G>T (p.Glu322Ter)
|
|
|
NM_024675.4(PALB2):c.976dup (p.Ser326fs)
|
rs1555461517
|
|
NM_024675.4(PALB2):c.984_986delinsC (p.Leu329fs)
|
|
|
NM_024675.4(PALB2):c.985_986del (p.Leu329fs)
|
rs1555461514
|
|
NM_024675.4(PALB2):c.986_987dup (p.Asn330Ter)
|
rs2142429230
|
|
NM_024675.4(PALB2):c.991G>T (p.Glu331Ter)
|
|
|
NM_024675.4(PALB2):c.995_996del (p.Leu332fs)
|
rs1567221851
|
|
NM_024675.4(PALB2):c.999C>T (p.Thr333=)
|
rs180177096
|
|
NM_024675.4(PALB2):c.9_48+118del
|
|
|
NM_032043.2(BRIP1):c.196delinsCTC (p.Ser66fs)
|
rs1555618375
|
|
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs)
|
rs1555580957
|
|
NM_032043.2(BRIP1):c.630_637delCCCTGGCC
|
rs1603347058
|
|
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.1007_1031del (p.Asp336fs)
|
|
|
NM_032043.3(BRIP1):c.100dup (p.Arg34fs)
|
|
|
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.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.107T>A (p.Leu36Ter)
|
|
|
NM_032043.3(BRIP1):c.1101del (p.Tyr369fs)
|
|
|
NM_032043.3(BRIP1):c.1106A>G (p.Tyr369Cys)
|
rs786202218
|
|
NM_032043.3(BRIP1):c.1107C>G (p.Tyr369Ter)
|
rs1489355776
|
|
NM_032043.3(BRIP1):c.1111del (p.Tyr371fs)
|
|
|
NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs)
|
rs587783377
|
|
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.1138del (p.Ser380fs)
|
rs2077985927
|
|
NM_032043.3(BRIP1):c.1140+3G>A
|
rs1322162359
|
|
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.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.1167del (p.Val390fs)
|
|
|
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.1251dup (p.Ala418fs)
|
|
|
NM_032043.3(BRIP1):c.1261del (p.Glu421fs)
|
|
|
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.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.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.1341-1G>C
|
|
|
NM_032043.3(BRIP1):c.1344G>A (p.Trp448Ter)
|
|
|
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.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.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.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.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.1551_1552delinsAACAGGTAC (p.Val518fs)
|
|
|
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.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.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.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.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.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.1660C>T (p.Gln554Ter)
|
rs777217004
|
|
NM_032043.3(BRIP1):c.1661del (p.Gln554fs)
|
rs749762964
|
|
NM_032043.3(BRIP1):c.1662_1663del (p.Gln554fs)
|
rs1603334758
|
|
NM_032043.3(BRIP1):c.1678_1682del (p.Asn560fs)
|
|
|
NM_032043.3(BRIP1):c.1686del (p.Ile562fs)
|
|
|
NM_032043.3(BRIP1):c.168_171del (p.Leu56fs)
|
rs1603367673
|
|
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.1707del (p.Leu570fs)
|
rs2077609211
|
|
NM_032043.3(BRIP1):c.1727dup (p.Asn576fs)
|
rs587778131
|
|
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.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.182T>G (p.Leu61Ter)
|
|
|
NM_032043.3(BRIP1):c.1831del (p.Val611fs)
|
rs1567812616
|
|
NM_032043.3(BRIP1):c.1850T>A (p.Leu617Ter)
|
|
|
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.189G>A (p.Trp63Ter)
|
rs1603367647
|
|
NM_032043.3(BRIP1):c.1900C>T (p.Gln634Ter)
|
|
|
NM_032043.3(BRIP1):c.1911dup (p.Asn638Ter)
|
|
|
NM_032043.3(BRIP1):c.1928del (p.Asn643fs)
|
|
|
NM_032043.3(BRIP1):c.1931C>A (p.Ser644Ter)
|
|
|
NM_032043.3(BRIP1):c.1936del
|
rs1567809140
|
|
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)
|
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.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.2015delinsCC (p.Phe672fs)
|
rs1555601094
|
|
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.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.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.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.2133del (p.Gly712fs)
|
rs1567781543
|
|
NM_032043.3(BRIP1):c.2138T>G (p.Leu713Ter)
|
rs878855145
|
|
NM_032043.3(BRIP1):c.2139_2257+80del
|
|
|
NM_032043.3(BRIP1):c.2142G>A (p.Trp714Ter)
|
rs1567781516
|
|
NM_032043.3(BRIP1):c.2143_2163delinsTTCT (p.His715fs)
|
|
|
NM_032043.3(BRIP1):c.2166del (p.Val723fs)
|
|
|
NM_032043.3(BRIP1):c.2166dup (p.Val723fs)
|
|
|
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.2237_2240del (p.Ile746fs)
|
rs587782726
|
|
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)
|
rs1257401983
|
|
NM_032043.3(BRIP1):c.2251_2254del (p.Glu751fs)
|
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.227dup (p.Ser77fs)
|
|
|
NM_032043.3(BRIP1):c.2281del (p.Cys761fs)
|
rs1555590521
|
|
NM_032043.3(BRIP1):c.2298_2301del (p.Ser766fs)
|
rs2144678308
|
|
NM_032043.3(BRIP1):c.2313_2319del (p.Phe771fs)
|
rs758128094
|
|
NM_032043.3(BRIP1):c.2315C>A (p.Ser772Ter)
|
|
|
NM_032043.3(BRIP1):c.2334_2337dup (p.Ile780fs)
|
|
|
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.2380-1G>A
|
rs1567756032
|
|
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.2414C>A (p.Ser805Ter)
|
rs2061855838
|
|
NM_032043.3(BRIP1):c.241del (p.Glu81fs)
|
rs1292988272
|
|
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.2466delinsACA (p.Tyr822Ter)
|
|
|
NM_032043.3(BRIP1):c.2467del (p.Arg823fs)
|
|
|
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.2492+1G>C
|
rs1567755539
|
|
NM_032043.3(BRIP1):c.2492+1del
|
rs1603293314
|
|
NM_032043.3(BRIP1):c.2492_2492+5del
|
rs1603293306
|
|
NM_032043.3(BRIP1):c.2493-1G>C
|
rs786203451
|
|
NM_032043.3(BRIP1):c.2493-2A>G
|
rs1603280621
|
|
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.2558del (p.Pro853fs)
|
|
|
NM_032043.3(BRIP1):c.2575+1G>A
|
rs1567737536
|
|
NM_032043.3(BRIP1):c.2575+1G>T
|
rs1567737536
|
|
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.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.2649del (p.Glu883fs)
|
|
|
NM_032043.3(BRIP1):c.2656A>T (p.Lys886Ter)
|
|
|
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.2714del (p.Asn905fs)
|
rs2144114210
|
|
NM_032043.3(BRIP1):c.2727dup (p.Glu910Ter)
|
|
|
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.2798dup (p.Asn933fs)
|
|
|
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)
|
rs140233356
|
|
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.2893del (p.Arg965fs)
|
|
|
NM_032043.3(BRIP1):c.2899G>T (p.Glu967Ter)
|
|
|
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+4T>A
|
rs373835270
|
|
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs)
|
rs763009188
|
|
NM_032043.3(BRIP1):c.2916_2917del (p.Phe973fs)
|
|
|
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.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2991A>G (p.Thr997=)
|
rs45466996
|
|
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)
|
rs786203717
|
|
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.304C>T (p.Gln102Ter)
|
|
|
NM_032043.3(BRIP1):c.30del (p.Ile10fs)
|
rs1567878234
|
|
NM_032043.3(BRIP1):c.314C>G (p.Ser105Ter)
|
rs1555617829
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
|
NM_032043.3(BRIP1):c.330T>G (p.Tyr110Ter)
|
|
|
NM_032043.3(BRIP1):c.332dup (p.Ser112fs)
|
|
|
NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly)
|
rs774605759
|
|
NM_032043.3(BRIP1):c.349G>T (p.Glu117Ter)
|
rs786203890
|
|
NM_032043.3(BRIP1):c.35_39del (p.Gly12fs)
|
|
|
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala)
|
rs45617634
|
|
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.380-17dup
|
rs545021924
|
|
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.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.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.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>T (p.Arg162Leu)
|
rs61757643
|
|
NM_032043.3(BRIP1):c.491T>G (p.Leu164Ter)
|
|
|
NM_032043.3(BRIP1):c.502C>T (p.Gln168Ter)
|
|
|
NM_032043.3(BRIP1):c.503dup (p.Gln169fs)
|
|
|
NM_032043.3(BRIP1):c.507+1del
|
|
|
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.598G>T (p.Glu200Ter)
|
|
|
NM_032043.3(BRIP1):c.608del (p.Asn203fs)
|
rs1603361570
|
|
NM_032043.3(BRIP1):c.612del (p.Ser206fs)
|
|
|
NM_032043.3(BRIP1):c.622C>T (p.Gln208Ter)
|
|
|
NM_032043.3(BRIP1):c.627A>G (p.Lys209=)
|
rs1555615717
|
|
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.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.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.674dup (p.Asn225fs)
|
|
|
NM_032043.3(BRIP1):c.676dup (p.Ser226fs)
|
|
|
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)
|
rs45459799
|
|
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)
|
rs1555618716
|
|
NM_032043.3(BRIP1):c.699del (p.Lys234fs)
|
|
|
NM_032043.3(BRIP1):c.700A>T (p.Lys234Ter)
|
|
|
NM_032043.3(BRIP1):c.71dup (p.Gln25fs)
|
rs2145864140
|
|
NM_032043.3(BRIP1):c.727dup (p.Ile243fs)
|
|
|
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.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.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.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.840del (p.His281fs)
|
rs1555609191
|
|
NM_032043.3(BRIP1):c.844dup (p.Thr282fs)
|
rs2145414039
|
|
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.890_891insT (p.Lys297fs)
|
rs878855159
|
|
NM_032043.3(BRIP1):c.890del (p.Lys297fs)
|
rs786202610
|
|
NM_032043.3(BRIP1):c.8C>A (p.Ser3Ter)
|
rs1603368491
|
|
NM_032043.3(BRIP1):c.903del (p.Leu301fs)
|
rs876659490
|
|
NM_032043.3(BRIP1):c.918del (p.Asn306fs)
|
rs1555609116
|
|
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.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.96del (p.Leu33fs)
|
rs1603367753
|
|
NM_032043.3(BRIP1):c.971del (p.Thr324fs)
|
|
|
NM_032043.3(BRIP1):c.976C>T (p.Gln326Ter)
|
|
|
NM_032043.3(BRIP1):c.984_990del (p.Phe328fs)
|
rs2145339188
|
|