NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=)
|
rs206075
|
0.97986
|
NM_000059.4(BRCA2):c.7806-14T>C
|
rs9534262
|
0.53977
|
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=)
|
rs1799949
|
0.30810
|
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)
|
rs16942
|
0.30784
|
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=)
|
rs1060915
|
0.29170
|
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
|
rs16941
|
0.29115
|
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=)
|
rs16940
|
0.29035
|
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=)
|
rs1801406
|
0.28273
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=)
|
rs543304
|
0.18381
|
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn)
|
rs4986850
|
0.05782
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
NM_000059.4(BRCA2):c.2229T>C (p.His743=)
|
rs1801499
|
0.03698
|
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)
|
rs766173
|
0.03693
|
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=)
|
rs1801439
|
0.03688
|
NM_000059.4(BRCA2):c.7397= (p.Val2466=)
|
rs169547
|
0.02098
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01834
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)
|
rs9590940
|
0.01220
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
NM_000059.4(BRCA2):c.8487+19A>G
|
rs11571743
|
0.01055
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)
|
rs45574331
|
0.00792
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)
|
rs11571642
|
0.00768
|
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)
|
rs28897679
|
0.00707
|
NM_000059.4(BRCA2):c.517-19C>T
|
rs11571623
|
0.00693
|
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn)
|
rs4987048
|
0.00655
|
NM_000059.4(BRCA2):c.9257-16T>C
|
rs11571818
|
0.00597
|
NM_007294.4(BRCA1):c.5406+8T>C
|
rs55946644
|
0.00514
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
NM_007294.4(BRCA1):c.5468-10C>A
|
rs8176316
|
0.00464
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=)
|
rs34355306
|
0.00335
|
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)
|
rs41293485
|
0.00307
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)
|
rs2219594
|
0.00292
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
NM_007294.4(BRCA1):c.4987-20A>G
|
rs80358035
|
0.00252
|
NM_007294.4(BRCA1):c.114G>A (p.Lys38=)
|
rs1800062
|
0.00233
|
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=)
|
rs61754138
|
0.00228
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=)
|
rs80356851
|
0.00183
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_007294.4(BRCA1):c.21C>T (p.Arg7=)
|
rs149402012
|
0.00165
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)
|
rs56128296
|
0.00158
|
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=)
|
rs147448807
|
0.00150
|
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=)
|
rs4986844
|
0.00147
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=)
|
rs11571652
|
0.00109
|
NM_007294.4(BRCA1):c.765G>A (p.Glu255=)
|
rs62625299
|
0.00107
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)
|
rs28897693
|
0.00064
|
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=)
|
rs142459158
|
0.00061
|
NM_000059.4(BRCA2):c.4071A>C (p.Leu1357=)
|
rs140556653
|
0.00059
|
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)
|
rs80359810
|
0.00048
|
NM_000059.4(BRCA2):c.9649-19G>A
|
rs11571830
|
0.00047
|
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=)
|
rs11571832
|
0.00047
|
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)
|
rs80356892
|
0.00046
|
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00034
|
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro)
|
rs28897701
|
0.00032
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)
|
rs149827260
|
0.00030
|
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00029
|
NM_032043.3(BRIP1):c.173G>A (p.Cys58Tyr)
|
rs749920386
|
0.00029
|
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_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
NM_000059.4(BRCA2):c.516+14C>T
|
rs182828913
|
0.00026
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)
|
rs146243469
|
0.00022
|
NM_007294.4(BRCA1):c.807G>A (p.Leu269=)
|
rs149867679
|
0.00022
|
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr)
|
rs145812395
|
0.00021
|
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_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000051.4(ATM):c.7516A>G (p.Arg2506Gly)
|
rs200441272
|
0.00019
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000465.4(BARD1):c.308G>A (p.Ser103Asn)
|
rs145629242
|
0.00019
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_007294.4(BRCA1):c.828A>G (p.Thr276=)
|
rs186274774
|
0.00019
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
NM_000051.4(ATM):c.7552C>T (p.Pro2518Ser)
|
rs374876799
|
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_000051.4(ATM):c.7244C>G (p.Ala2415Gly)
|
rs370567994
|
0.00015
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)
|
rs146017595
|
0.00014
|
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr)
|
rs372838622
|
0.00014
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00014
|
NM_000051.4(ATM):c.131A>G (p.Asp44Gly)
|
rs150143957
|
0.00013
|
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)
|
rs145513717
|
0.00013
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
NM_000059.4(BRCA2):c.68-3T>G
|
rs786201770
|
0.00013
|
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser)
|
rs138593305
|
0.00013
|
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu)
|
rs4986847
|
0.00013
|
NM_000051.4(ATM):c.3628A>G (p.Met1210Val)
|
rs138212452
|
0.00012
|
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)
|
rs145667735
|
0.00012
|
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe)
|
rs377595814
|
0.00012
|
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=)
|
rs45525041
|
0.00012
|
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His)
|
rs200894063
|
0.00012
|
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr)
|
rs730881342
|
0.00011
|
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys)
|
rs531980488
|
0.00011
|
NM_000059.4(BRCA2):c.3054G>A (p.Lys1018=)
|
rs368404583
|
0.00011
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
NM_000051.4(ATM):c.1631T>C (p.Leu544Ser)
|
rs375754332
|
0.00010
|
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr)
|
rs587782239
|
0.00010
|
NM_000059.4(BRCA2):c.8633-16C>G
|
rs81002818
|
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_000051.4(ATM):c.6475T>G (p.Cys2159Gly)
|
rs150408832
|
0.00009
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu)
|
rs149262370
|
0.00009
|
NM_000465.4(BARD1):c.764A>G (p.Asn255Ser)
|
rs138904906
|
0.00009
|
NM_004360.5(CDH1):c.2644G>A (p.Asp882Asn)
|
rs200104963
|
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.751A>T (p.Ile251Phe)
|
rs587780189
|
0.00009
|
NM_032043.3(BRIP1):c.1721C>T (p.Pro574Leu)
|
rs377302300
|
0.00009
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln)
|
rs587782298
|
0.00008
|
NM_000051.4(ATM):c.4329C>A (p.His1443Gln)
|
rs377065665
|
0.00008
|
NM_000051.4(ATM):c.6497T>C (p.Val2166Ala)
|
rs1232551114
|
0.00008
|
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)
|
rs376727038
|
0.00008
|
NM_000465.4(BARD1):c.1985T>G (p.Leu662Arg)
|
rs556775078
|
0.00008
|
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met)
|
rs558321010
|
0.00008
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00008
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
rs878855107
|
0.00008
|
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)
|
rs147515380
|
0.00007
|
NM_000051.4(ATM):c.290T>C (p.Ile97Thr)
|
rs786203011
|
0.00007
|
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)
|
rs587778075
|
0.00007
|
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)
|
rs202208861
|
0.00007
|
NM_000059.4(BRCA2):c.9949C>T (p.Leu3317=)
|
rs777488349
|
0.00007
|
NM_004360.5(CDH1):c.854C>T (p.Thr285Ile)
|
rs587781634
|
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_024675.4(PALB2):c.2200A>T (p.Thr734Ser)
|
rs45543843
|
0.00007
|
NM_032043.3(BRIP1):c.2873T>A (p.Leu958Gln)
|
rs145859791
|
0.00007
|
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)
|
rs148705269
|
0.00006
|
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)
|
rs587782195
|
0.00006
|
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile)
|
rs375190373
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser)
|
rs587780632
|
0.00006
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)
|
rs377349459
|
0.00006
|
NM_000051.4(ATM):c.946T>C (p.Tyr316His)
|
rs142317485
|
0.00006
|
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=)
|
rs41293473
|
0.00006
|
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=)
|
rs55919657
|
0.00006
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp)
|
rs371147849
|
0.00006
|
NM_000465.4(BARD1):c.119C>T (p.Ala40Val)
|
rs71579841
|
0.00006
|
NM_000465.4(BARD1):c.127C>A (p.Arg43Ser)
|
rs752871324
|
0.00006
|
NM_000465.4(BARD1):c.1585C>T (p.Arg529Trp)
|
rs375515606
|
0.00006
|
NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn)
|
rs376256852
|
0.00006
|
NM_004360.5(CDH1):c.846G>A (p.Met282Ile)
|
rs200932258
|
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.688G>T (p.Ala230Ser)
|
rs748636216
|
0.00006
|
NM_007294.4(BRCA1):c.5278-14C>G
|
rs80358105
|
0.00006
|
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser)
|
rs200048921
|
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.2233G>A (p.Ala745Thr)
|
rs587780235
|
0.00006
|
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)
|
rs730881645
|
0.00006
|
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser)
|
rs587780251
|
0.00006
|
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)
|
rs201047375
|
0.00006
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
NM_032043.3(BRIP1):c.918+1G>A
|
rs587781655
|
0.00006
|
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)
|
rs587782397
|
0.00005
|
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)
|
rs55723361
|
0.00005
|
NM_000051.4(ATM):c.6160G>T (p.Ala2054Ser)
|
rs587779853
|
0.00005
|
NM_000051.4(ATM):c.659C>T (p.Ala220Val)
|
rs145355104
|
0.00005
|
NM_000051.4(ATM):c.9031A>G (p.Met3011Val)
|
rs372795527
|
0.00005
|
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=)
|
rs199879914
|
0.00005
|
NM_000059.4(BRCA2):c.5985C>T (p.Asn1995=)
|
rs374620036
|
0.00005
|
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser)
|
rs398122714
|
0.00005
|
NM_000465.4(BARD1):c.1268A>G (p.Lys423Arg)
|
rs749383704
|
0.00005
|
NM_000465.4(BARD1):c.499C>T (p.Pro167Ser)
|
rs767584985
|
0.00005
|
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)
|
rs200059956
|
0.00005
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)
|
rs146434474
|
0.00005
|
NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg)
|
rs142343372
|
0.00005
|
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu)
|
rs180177125
|
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.1688A>G (p.Asp563Gly)
|
rs577768294
|
0.00005
|
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
NM_000051.4(ATM):c.1837G>T (p.Val613Leu)
|
rs200124136
|
0.00004
|
NM_000051.4(ATM):c.202A>G (p.Ile68Val)
|
rs35389822
|
0.00004
|
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)
|
rs780619951
|
0.00004
|
NM_000051.4(ATM):c.2418G>T (p.Leu806Phe)
|
rs587781296
|
0.00004
|
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile)
|
rs147122522
|
0.00004
|
NM_000051.4(ATM):c.2836A>G (p.Met946Val)
|
rs587781992
|
0.00004
|
NM_000051.4(ATM):c.3106T>C (p.Phe1036Leu)
|
rs747079458
|
0.00004
|
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)
|
rs370282831
|
0.00004
|
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile)
|
rs576884305
|
0.00004
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
NM_000051.4(ATM):c.4466G>A (p.Arg1489His)
|
rs201594549
|
0.00004
|
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter)
|
rs1131691164
|
0.00004
|
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met)
|
rs587781712
|
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.6179G>C (p.Arg2060Pro)
|
rs376521407
|
0.00004
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)
|
rs376824528
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)
|
rs730881325
|
0.00004
|
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)
|
rs141534716
|
0.00004
|
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys)
|
rs375125172
|
0.00004
|
NM_000059.4(BRCA2):c.476-3C>A
|
rs371431745
|
0.00004
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)
|
rs80359505
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_000059.4(BRCA2):c.9648+10T>G
|
rs81002835
|
0.00004
|
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys)
|
rs80359237
|
0.00004
|
NM_000465.4(BARD1):c.1294C>T (p.Leu432Phe)
|
rs185164724
|
0.00004
|
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)
|
rs587781948
|
0.00004
|
NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr)
|
rs587780030
|
0.00004
|
NM_000465.4(BARD1):c.692C>T (p.Ser231Phe)
|
rs758140052
|
0.00004
|
NM_000465.4(BARD1):c.97G>C (p.Ala33Pro)
|
rs587782465
|
0.00004
|
NM_004360.5(CDH1):c.1793G>A (p.Arg598Gln)
|
rs780759537
|
0.00004
|
NM_004360.5(CDH1):c.2336G>A (p.Arg779Gln)
|
rs587781311
|
0.00004
|
NM_004360.5(CDH1):c.2450C>T (p.Ala817Val)
|
rs587782024
|
0.00004
|
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)
|
rs587781312
|
0.00004
|
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=)
|
rs201544715
|
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.400G>C (p.Asp134His)
|
rs372874441
|
0.00004
|
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)
|
rs141776984
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_007294.4(BRCA1):c.4357+17A>G
|
rs80358180
|
0.00004
|
NM_007294.4(BRCA1):c.75C>T (p.Pro25=)
|
rs80356839
|
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.2289G>C (p.Leu763Phe)
|
rs373478248
|
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_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
NM_032043.3(BRIP1):c.1090A>T (p.Ile364Phe)
|
rs770306753
|
0.00004
|
NM_032043.3(BRIP1):c.1220G>A (p.Ser407Asn)
|
rs759835916
|
0.00004
|
NM_032043.3(BRIP1):c.1655T>C (p.Ile552Thr)
|
rs369340666
|
0.00004
|
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile)
|
rs777741543
|
0.00004
|
NM_032043.3(BRIP1):c.2189G>A (p.Gly730Glu)
|
rs748616469
|
0.00004
|
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys)
|
rs146031731
|
0.00004
|
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp)
|
rs578022079
|
0.00004
|
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His)
|
rs367816363
|
0.00004
|
NM_032043.3(BRIP1):c.400C>A (p.Leu134Met)
|
rs876658195
|
0.00004
|
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala)
|
rs202072866
|
0.00004
|
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe)
|
rs533184563
|
0.00004
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe)
|
rs370240037
|
0.00003
|
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)
|
rs377597949
|
0.00003
|
NM_000051.4(ATM):c.1661C>T (p.Thr554Met)
|
rs1060501694
|
0.00003
|
NM_000051.4(ATM):c.1943T>C (p.Val648Ala)
|
rs141175037
|
0.00003
|
NM_000051.4(ATM):c.2150G>C (p.Arg717Pro)
|
rs768874297
|
0.00003
|
NM_000051.4(ATM):c.2192A>T (p.Tyr731Phe)
|
rs730881345
|
0.00003
|
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys)
|
rs878853492
|
0.00003
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000051.4(ATM):c.2354G>A (p.Arg785His)
|
rs587782128
|
0.00003
|
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln)
|
rs587782255
|
0.00003
|
NM_000051.4(ATM):c.2519A>T (p.Asp840Val)
|
rs786202605
|
0.00003
|
NM_000051.4(ATM):c.2561C>A (p.Ser854Tyr)
|
rs778123895
|
0.00003
|
NM_000051.4(ATM):c.2579A>G (p.Asp860Gly)
|
rs761251711
|
0.00003
|
NM_000051.4(ATM):c.2639-384A>G
|
rs1131691154
|
0.00003
|
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00003
|
NM_000051.4(ATM):c.2942G>A (p.Arg981His)
|
rs755896387
|
0.00003
|
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)
|
rs372966951
|
0.00003
|
NM_000051.4(ATM):c.3544G>C (p.Glu1182Gln)
|
rs377349886
|
0.00003
|
NM_000051.4(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe)
|
rs786203389
|
0.00003
|
NM_000051.4(ATM):c.379A>T (p.Thr127Ser)
|
rs587781741
|
0.00003
|
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr)
|
rs769980220
|
0.00003
|
NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly)
|
rs730881369
|
0.00003
|
NM_000051.4(ATM):c.4702C>T (p.His1568Tyr)
|
rs753269143
|
0.00003
|
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln)
|
rs373789346
|
0.00003
|
NM_000051.4(ATM):c.5653A>T (p.Thr1885Ser)
|
rs587779850
|
0.00003
|
NM_000051.4(ATM):c.590G>A (p.Gly197Glu)
|
rs753806542
|
0.00003
|
NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly)
|
rs786202089
|
0.00003
|
NM_000051.4(ATM):c.649A>G (p.Ile217Val)
|
rs547045780
|
0.00003
|
NM_000051.4(ATM):c.6554T>C (p.Ile2185Thr)
|
rs779611511
|
0.00003
|
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp)
|
rs730881311
|
0.00003
|
NM_000051.4(ATM):c.668A>G (p.Glu223Gly)
|
rs776227830
|
0.00003
|
NM_000051.4(ATM):c.7213A>G (p.Met2405Val)
|
rs587781323
|
0.00003
|
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys)
|
rs730881383
|
0.00003
|
NM_000051.4(ATM):c.7999A>G (p.Met2667Val)
|
rs34099398
|
0.00003
|
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile)
|
rs779145081
|
0.00003
|
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)
|
rs730881294
|
0.00003
|
NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)
|
rs587782137
|
0.00003
|
NM_000059.4(BRCA2):c.316+12A>G
|
rs186419778
|
0.00003
|
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)
|
rs80358568
|
0.00003
|
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs)
|
rs80359395
|
0.00003
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
NM_000059.4(BRCA2):c.663T>G (p.Phe221Leu)
|
rs80358891
|
0.00003
|
NM_000059.4(BRCA2):c.7270A>G (p.Arg2424Gly)
|
rs786202621
|
0.00003
|
NM_000059.4(BRCA2):c.7682A>G (p.Gln2561Arg)
|
rs55647716
|
0.00003
|
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro)
|
rs80359066
|
0.00003
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
NM_000059.4(BRCA2):c.9820T>G (p.Leu3274Val)
|
rs80359244
|
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.1915T>C (p.Cys639Arg)
|
rs587781376
|
0.00003
|
NM_000465.4(BARD1):c.212G>T (p.Cys71Phe)
|
rs1064793959
|
0.00003
|
NM_000465.4(BARD1):c.2137G>A (p.Val713Met)
|
rs546077003
|
0.00003
|
NM_000465.4(BARD1):c.2171C>T (p.Ala724Val)
|
rs587782662
|
0.00003
|
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter)
|
rs879253880
|
0.00003
|
NM_000465.4(BARD1):c.2252G>A (p.Arg751Gln)
|
rs587782246
|
0.00003
|
NM_000465.4(BARD1):c.281A>C (p.Asp94Ala)
|
rs757569689
|
0.00003
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
NM_004360.5(CDH1):c.1477G>C (p.Val493Leu)
|
rs730881666
|
0.00003
|
NM_004360.5(CDH1):c.2017C>A (p.Gln673Lys)
|
rs587781701
|
0.00003
|
NM_007194.4(CHEK2):c.1022A>C (p.Asn341Thr)
|
rs773846607
|
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.1513T>C (p.Ser505Pro)
|
rs587781960
|
0.00003
|
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu)
|
rs587782541
|
0.00003
|
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp)
|
rs533475838
|
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.917G>C (p.Gly306Ala)
|
rs587780192
|
0.00003
|
NM_007194.4(CHEK2):c.953G>A (p.Arg318His)
|
rs143611747
|
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.1756G>A (p.Asp586Asn)
|
rs587781954
|
0.00003
|
NM_024675.4(PALB2):c.1833C>A (p.Asp611Glu)
|
rs779184831
|
0.00003
|
NM_024675.4(PALB2):c.1846G>C (p.Asp616His)
|
rs786201907
|
0.00003
|
NM_024675.4(PALB2):c.20A>G (p.Lys7Arg)
|
rs947155109
|
0.00003
|
NM_024675.4(PALB2):c.2641G>A (p.Gly881Ser)
|
rs766315705
|
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.3146T>C (p.Met1049Thr)
|
rs138273800
|
0.00003
|
NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser)
|
rs730881878
|
0.00003
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
NM_024675.4(PALB2):c.788A>G (p.Glu263Gly)
|
rs745553724
|
0.00003
|
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)
|
rs587780228
|
0.00003
|
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val)
|
rs142744352
|
0.00003
|
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)
|
rs4988349
|
0.00003
|
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu)
|
rs375246789
|
0.00003
|
NM_032043.3(BRIP1):c.1660C>G (p.Gln554Glu)
|
rs777217004
|
0.00003
|
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)
|
rs200960251
|
0.00003
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser)
|
rs587780239
|
0.00003
|
NM_032043.3(BRIP1):c.2492+2dup
|
rs587780240
|
0.00003
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr)
|
rs757668121
|
0.00003
|
NM_032043.3(BRIP1):c.347C>G (p.Ser116Cys)
|
rs748793974
|
0.00003
|
NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter)
|
rs542698396
|
0.00003
|
NM_032043.3(BRIP1):c.3730_3731del (p.Met1244fs)
|
rs730881646
|
0.00003
|
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)
|
rs587781860
|
0.00003
|
NM_032043.3(BRIP1):c.886G>C (p.Glu296Gln)
|
rs876660125
|
0.00003
|
NM_000051.4(ATM):c.1271C>A (p.Pro424His)
|
rs147472613
|
0.00002
|
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln)
|
rs760676955
|
0.00002
|
NM_000051.4(ATM):c.1702A>G (p.Arg568Gly)
|
rs876659425
|
0.00002
|
NM_000051.4(ATM):c.175G>T (p.Ala59Ser)
|
rs752527112
|
0.00002
|
NM_000051.4(ATM):c.1855A>C (p.Asn619His)
|
rs140882609
|
0.00002
|
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys)
|
rs587779830
|
0.00002
|
NM_000051.4(ATM):c.3040G>A (p.Ala1014Thr)
|
rs587782163
|
0.00002
|
NM_000051.4(ATM):c.3071C>T (p.Ala1024Val)
|
rs746133264
|
0.00002
|
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe)
|
rs876660498
|
0.00002
|
NM_000051.4(ATM):c.38G>A (p.Arg13His)
|
rs778201041
|
0.00002
|
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys)
|
rs778123057
|
0.00002
|
NM_000051.4(ATM):c.3993+1G>A
|
rs200196781
|
0.00002
|
NM_000051.4(ATM):c.3994-2A>G
|
rs587782276
|
0.00002
|
NM_000051.4(ATM):c.4133C>T (p.Pro1378Leu)
|
rs750771205
|
0.00002
|
NM_000051.4(ATM):c.425G>A (p.Ser142Asn)
|
rs755618506
|
0.00002
|
NM_000051.4(ATM):c.4306C>T (p.His1436Tyr)
|
rs544891616
|
0.00002
|
NM_000051.4(ATM):c.4921G>C (p.Asp1641His)
|
rs587782896
|
0.00002
|
NM_000051.4(ATM):c.5125C>A (p.Gln1709Lys)
|
rs1341457041
|
0.00002
|
NM_000051.4(ATM):c.5369A>G (p.Asp1790Gly)
|
rs746945284
|
0.00002
|
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)
|
rs538452060
|
0.00002
|
NM_000051.4(ATM):c.5674G>A (p.Glu1892Lys)
|
rs730881375
|
0.00002
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
NM_000051.4(ATM):c.67C>T (p.Arg23Ter)
|
rs746235533
|
0.00002
|
NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys)
|
rs886039471
|
0.00002
|
NM_000051.4(ATM):c.6823A>G (p.Ile2275Val)
|
rs587779857
|
0.00002
|
NM_000051.4(ATM):c.7630-3C>T
|
rs587782448
|
0.00002
|
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys)
|
rs755009196
|
0.00002
|
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile)
|
rs587779870
|
0.00002
|
NM_000051.4(ATM):c.8120C>G (p.Ser2707Cys)
|
rs748016261
|
0.00002
|
NM_000051.4(ATM):c.8129A>G (p.Lys2710Arg)
|
rs587782001
|
0.00002
|
NM_000051.4(ATM):c.8405A>G (p.Gln2802Arg)
|
rs730881324
|
0.00002
|
NM_000051.4(ATM):c.8450A>G (p.Tyr2817Cys)
|
rs747764678
|
0.00002
|
NM_000051.4(ATM):c.8520G>C (p.Leu2840Phe)
|
rs752652869
|
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_000051.4(ATM):c.95G>A (p.Arg32His)
|
rs368161489
|
0.00002
|
NM_000059.4(BRCA2):c.229A>G (p.Thr77Ala)
|
rs80358500
|
0.00002
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000059.4(BRCA2):c.6848C>A (p.Pro2283His)
|
rs80358910
|
0.00002
|
NM_000059.4(BRCA2):c.7413A>G (p.Thr2471=)
|
rs138067005
|
0.00002
|
NM_000059.4(BRCA2):c.7618C>A (p.Leu2540Met)
|
rs397507390
|
0.00002
|
NM_000059.4(BRCA2):c.7914T>G (p.Phe2638Leu)
|
rs764248927
|
0.00002
|
NM_000059.4(BRCA2):c.8603A>G (p.Lys2868Arg)
|
rs759784406
|
0.00002
|
NM_000059.4(BRCA2):c.8942A>G (p.Glu2981Gly)
|
rs398122716
|
0.00002
|
NM_000059.4(BRCA2):c.9168C>G (p.His3056Gln)
|
rs876661266
|
0.00002
|
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=)
|
rs587780873
|
0.00002
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
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.1439T>C (p.Leu480Ser)
|
rs149839922
|
0.00002
|
NM_000465.4(BARD1):c.1569-13C>G
|
rs587780018
|
0.00002
|
NM_000465.4(BARD1):c.1693C>T (p.Arg565Cys)
|
rs587782279
|
0.00002
|
NM_000465.4(BARD1):c.31_45dup (p.Gln11_Arg15dup)
|
rs876659262
|
0.00002
|
NM_000465.4(BARD1):c.443G>A (p.Ser148Asn)
|
rs1220764138
|
0.00002
|
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly)
|
rs16852741
|
0.00002
|
NM_000465.4(BARD1):c.79G>C (p.Glu27Gln)
|
rs587780037
|
0.00002
|
NM_004360.5(CDH1):c.1679C>T (p.Thr560Met)
|
rs746481984
|
0.00002
|
NM_004360.5(CDH1):c.1946C>T (p.Ser649Phe)
|
rs1238607560
|
0.00002
|
NM_004360.5(CDH1):c.2202A>T (p.Arg734Ser)
|
rs745717070
|
0.00002
|
NM_004360.5(CDH1):c.2254G>A (p.Val752Ile)
|
rs587781351
|
0.00002
|
NM_004360.5(CDH1):c.2359G>A (p.Val787Ile)
|
rs766270336
|
0.00002
|
NM_004360.5(CDH1):c.2371C>T (p.Leu791Phe)
|
rs786202598
|
0.00002
|
NM_004360.5(CDH1):c.2590G>A (p.Glu864Lys)
|
rs142927667
|
0.00002
|
NM_004360.5(CDH1):c.2600A>G (p.Asn867Ser)
|
rs587782623
|
0.00002
|
NM_004360.5(CDH1):c.325A>C (p.Lys109Gln)
|
rs587782023
|
0.00002
|
NM_004360.5(CDH1):c.344C>T (p.Thr115Met)
|
rs370973869
|
0.00002
|
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp)
|
rs587782268
|
0.00002
|
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr)
|
rs774179198
|
0.00002
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)
|
rs373073383
|
0.00002
|
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)
|
rs371657037
|
0.00002
|
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys)
|
rs149991239
|
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.608A>G (p.Asp203Gly)
|
rs587782813
|
0.00002
|
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)
|
rs750616657
|
0.00002
|
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)
|
rs587782347
|
0.00002
|
NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala)
|
rs545119348
|
0.00002
|
NM_024675.4(PALB2):c.1865T>C (p.Leu622Pro)
|
rs753012991
|
0.00002
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
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.2612A>G (p.Asp871Gly)
|
rs515726090
|
0.00002
|
NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser)
|
rs45464500
|
0.00002
|
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)
|
rs369132015
|
0.00002
|
NM_024675.4(PALB2):c.2953T>C (p.Ser985Pro)
|
rs139726856
|
0.00002
|
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met)
|
rs61756146
|
0.00002
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly)
|
rs786203345
|
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.79G>T (p.Glu27Ter)
|
rs878855122
|
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.1741C>T (p.Arg581Ter)
|
rs780020495
|
0.00002
|
NM_032043.3(BRIP1):c.2606A>G (p.Gln869Arg)
|
rs1060501733
|
0.00002
|
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn)
|
rs587781923
|
0.00002
|
NM_032043.3(BRIP1):c.332C>A (p.Pro111Gln)
|
rs201790351
|
0.00002
|
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln)
|
rs587780248
|
0.00002
|
NM_032043.3(BRIP1):c.3349T>G (p.Ser1117Ala)
|
rs779860140
|
0.00002
|
NM_032043.3(BRIP1):c.386C>T (p.Pro129Leu)
|
rs587780831
|
0.00002
|
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser)
|
rs730881623
|
0.00002
|
NM_032043.3(BRIP1):c.518G>A (p.Arg173His)
|
rs761432927
|
0.00002
|
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu)
|
rs565458815
|
0.00002
|
NM_032043.3(BRIP1):c.633del (p.Gly212fs)
|
rs779466229
|
0.00002
|
NM_032043.3(BRIP1):c.638A>G (p.His213Arg)
|
rs376760085
|
0.00002
|
NM_032043.3(BRIP1):c.661A>G (p.Thr221Ala)
|
rs777618772
|
0.00002
|
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val)
|
rs376893571
|
0.00002
|
NM_032043.3(BRIP1):c.791G>A (p.Arg264Gln)
|
rs758360637
|
0.00002
|
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met)
|
rs550031006
|
0.00002
|
NM_000051.4(ATM):c.104G>A (p.Arg35Gln)
|
rs876659324
|
0.00001
|
NM_000051.4(ATM):c.1080T>G (p.Asp360Glu)
|
rs199869975
|
0.00001
|
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.1235+3A>G
|
rs1417190414
|
0.00001
|
NM_000051.4(ATM):c.1261T>C (p.Ser421Pro)
|
rs376196220
|
0.00001
|
NM_000051.4(ATM):c.127C>G (p.Leu43Val)
|
rs772591447
|
0.00001
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
NM_000051.4(ATM):c.134G>A (p.Arg45Gln)
|
rs762382111
|
0.00001
|
NM_000051.4(ATM):c.1352G>A (p.Arg451His)
|
rs554805703
|
0.00001
|
NM_000051.4(ATM):c.1363G>A (p.Val455Met)
|
rs368879876
|
0.00001
|
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)
|
rs749036865
|
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.1466G>T (p.Cys489Phe)
|
rs776412334
|
0.00001
|
NM_000051.4(ATM):c.1481G>A (p.Gly494Asp)
|
rs786202233
|
0.00001
|
NM_000051.4(ATM):c.1607+1G>T
|
rs772926890
|
0.00001
|
NM_000051.4(ATM):c.1634C>T (p.Ala545Val)
|
rs878853485
|
0.00001
|
NM_000051.4(ATM):c.1695A>G (p.Glu565=)
|
rs780932013
|
0.00001
|
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)
|
rs587779818
|
0.00001
|
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)
|
rs587780614
|
0.00001
|
NM_000051.4(ATM):c.1768G>C (p.Glu590Gln)
|
rs876659283
|
0.00001
|
NM_000051.4(ATM):c.1838T>G (p.Val613Gly)
|
rs762018538
|
0.00001
|
NM_000051.4(ATM):c.1841G>C (p.Ser614Thr)
|
rs770377706
|
0.00001
|
NM_000051.4(ATM):c.186-1G>A
|
rs1259911051
|
0.00001
|
NM_000051.4(ATM):c.1870A>G (p.Met624Val)
|
rs863224557
|
0.00001
|
NM_000051.4(ATM):c.1874A>T (p.Asn625Ile)
|
rs766757573
|
0.00001
|
NM_000051.4(ATM):c.1907A>G (p.His636Arg)
|
rs1333990758
|
0.00001
|
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs)
|
rs1060501610
|
0.00001
|
NM_000051.4(ATM):c.1955T>C (p.Phe652Ser)
|
rs766259936
|
0.00001
|
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)
|
rs528165789
|
0.00001
|
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)
|
rs777849257
|
0.00001
|
NM_000051.4(ATM):c.2050C>G (p.Gln684Glu)
|
rs1060501691
|
0.00001
|
NM_000051.4(ATM):c.2051A>G (p.Gln684Arg)
|
rs772393149
|
0.00001
|
NM_000051.4(ATM):c.2062G>A (p.Glu688Lys)
|
rs769338089
|
0.00001
|
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)
|
rs765965513
|
0.00001
|
NM_000051.4(ATM):c.2168T>C (p.Val723Ala)
|
rs745399310
|
0.00001
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys)
|
rs3205809
|
0.00001
|
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg)
|
rs587779819
|
0.00001
|
NM_000051.4(ATM):c.229A>G (p.Ile77Val)
|
rs1064796032
|
0.00001
|
NM_000051.4(ATM):c.2336T>C (p.Met779Thr)
|
rs587778066
|
0.00001
|
NM_000051.4(ATM):c.2353C>T (p.Arg785Cys)
|
rs587778065
|
0.00001
|
NM_000051.4(ATM):c.2369G>C (p.Cys790Ser)
|
rs764538548
|
0.00001
|
NM_000051.4(ATM):c.2377A>G (p.Lys793Glu)
|
rs587781583
|
0.00001
|
NM_000051.4(ATM):c.241A>G (p.Asn81Asp)
|
rs758962678
|
0.00001
|
NM_000051.4(ATM):c.2428A>G (p.Lys810Glu)
|
rs201909756
|
0.00001
|
NM_000051.4(ATM):c.2459A>G (p.Lys820Arg)
|
rs952566855
|
0.00001
|
NM_000051.4(ATM):c.2474T>G (p.Phe825Cys)
|
rs1060501648
|
0.00001
|
NM_000051.4(ATM):c.2480A>G (p.Lys827Arg)
|
rs372230498
|
0.00001
|
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly)
|
rs587781352
|
0.00001
|
NM_000051.4(ATM):c.2501A>T (p.Glu834Val)
|
rs730881349
|
0.00001
|
NM_000051.4(ATM):c.250G>T (p.Ala84Ser)
|
rs1382256509
|
0.00001
|
NM_000051.4(ATM):c.2578G>A (p.Asp860Asn)
|
rs587779825
|
0.00001
|
NM_000051.4(ATM):c.2615C>T (p.Pro872Leu)
|
rs786202977
|
0.00001
|
NM_000051.4(ATM):c.2698A>G (p.Met900Val)
|
rs138468963
|
0.00001
|
NM_000051.4(ATM):c.2786T>C (p.Met929Thr)
|
rs745737218
|
0.00001
|
NM_000051.4(ATM):c.2798C>G (p.Ser933Cys)
|
rs56087610
|
0.00001
|
NM_000051.4(ATM):c.280A>G (p.Met94Val)
|
rs864622758
|
0.00001
|
NM_000051.4(ATM):c.2838+4A>G
|
rs876659907
|
0.00001
|
NM_000051.4(ATM):c.2921C>T (p.Ser974Phe)
|
rs538105098
|
0.00001
|
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser)
|
rs730881354
|
0.00001
|
NM_000051.4(ATM):c.2983C>T (p.Leu995Phe)
|
rs587779831
|
0.00001
|
NM_000051.4(ATM):c.3077+5G>A
|
rs777003996
|
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.3176C>T (p.Ala1059Val)
|
rs761590782
|
0.00001
|
NM_000051.4(ATM):c.3190A>G (p.Met1064Val)
|
rs79431304
|
0.00001
|
NM_000051.4(ATM):c.3194G>A (p.Gly1065Glu)
|
rs762810180
|
0.00001
|
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)
|
rs1060501687
|
0.00001
|
NM_000051.4(ATM):c.322G>A (p.Ala108Thr)
|
rs730881370
|
0.00001
|
NM_000051.4(ATM):c.3231T>A (p.Phe1077Leu)
|
rs971770683
|
0.00001
|
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)
|
rs149911447
|
0.00001
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser)
|
rs730881358
|
0.00001
|
NM_000051.4(ATM):c.3281A>G (p.Asn1094Ser)
|
rs199883473
|
0.00001
|
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)
|
rs189445371
|
0.00001
|
NM_000051.4(ATM):c.3328G>A (p.Ala1110Thr)
|
rs147112946
|
0.00001
|
NM_000051.4(ATM):c.3341A>T (p.Lys1114Met)
|
rs777705500
|
0.00001
|
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)
|
rs587779833
|
0.00001
|
NM_000051.4(ATM):c.337C>T (p.Pro113Ser)
|
rs1060501678
|
0.00001
|
NM_000051.4(ATM):c.3488C>A (p.Ser1163Tyr)
|
rs372766122
|
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.3676G>C (p.Asp1226His)
|
rs370974808
|
0.00001
|
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro)
|
rs183532834
|
0.00001
|
NM_000051.4(ATM):c.373A>G (p.Met125Val)
|
rs761137313
|
0.00001
|
NM_000051.4(ATM):c.3747-16A>G
|
rs1555093241
|
0.00001
|
NM_000051.4(ATM):c.37C>T (p.Arg13Cys)
|
rs141586345
|
0.00001
|
NM_000051.4(ATM):c.3802G>A (p.Val1268Met)
|
rs863224564
|
0.00001
|
NM_000051.4(ATM):c.3832G>A (p.Asp1278Asn)
|
rs730881365
|
0.00001
|
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)
|
rs730881389
|
0.00001
|
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)
|
rs183263185
|
0.00001
|
NM_000051.4(ATM):c.3952G>T (p.Val1318Phe)
|
rs587778074
|
0.00001
|
NM_000051.4(ATM):c.3956A>G (p.Tyr1319Cys)
|
rs1424433891
|
0.00001
|
NM_000051.4(ATM):c.400G>A (p.Gly134Ser)
|
rs2234998
|
0.00001
|
NM_000051.4(ATM):c.401G>A (p.Gly134Asp)
|
rs771166271
|
0.00001
|
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met)
|
rs587781785
|
0.00001
|
NM_000051.4(ATM):c.4055A>G (p.His1352Arg)
|
rs925124248
|
0.00001
|
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)
|
rs1057520640
|
0.00001
|
NM_000051.4(ATM):c.4196C>A (p.Thr1399Asn)
|
rs786203761
|
0.00001
|
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter)
|
rs587781950
|
0.00001
|
NM_000051.4(ATM):c.4256T>C (p.Leu1419Pro)
|
rs1060501622
|
0.00001
|
NM_000051.4(ATM):c.4358T>G (p.Ile1453Arg)
|
rs587782126
|
0.00001
|
NM_000051.4(ATM):c.439A>G (p.Lys147Glu)
|
rs587782509
|
0.00001
|
NM_000051.4(ATM):c.4420C>G (p.His1474Asp)
|
rs587779840
|
0.00001
|
NM_000051.4(ATM):c.4437-1G>C
|
rs759520465
|
0.00001
|
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys)
|
rs754181173
|
0.00001
|
NM_000051.4(ATM):c.4471T>C (p.Phe1491Leu)
|
rs587781944
|
0.00001
|
NM_000051.4(ATM):c.4561G>C (p.Val1521Leu)
|
rs141329176
|
0.00001
|
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)
|
rs779718362
|
0.00001
|
NM_000051.4(ATM):c.4639A>T (p.Ile1547Leu)
|
rs537377433
|
0.00001
|
NM_000051.4(ATM):c.475A>G (p.Ile159Val)
|
rs1565357315
|
0.00001
|
NM_000051.4(ATM):c.478T>C (p.Ser160Pro)
|
rs761170769
|
0.00001
|
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)
|
rs762083530
|
0.00001
|
NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln)
|
rs765759912
|
0.00001
|
NM_000051.4(ATM):c.4909+4C>T
|
rs587782125
|
0.00001
|
NM_000051.4(ATM):c.4910-5T>C
|
rs1309478967
|
0.00001
|
NM_000051.4(ATM):c.496+3A>G
|
rs876658311
|
0.00001
|
NM_000051.4(ATM):c.4975A>G (p.Ile1659Val)
|
rs778632065
|
0.00001
|
NM_000051.4(ATM):c.4997A>C (p.Glu1666Ala)
|
rs1457261046
|
0.00001
|
NM_000051.4(ATM):c.5005+1G>T
|
rs1057517427
|
0.00001
|
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu)
|
rs587782153
|
0.00001
|
NM_000051.4(ATM):c.5056A>G (p.Ile1686Val)
|
rs145453814
|
0.00001
|
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro)
|
rs747800057
|
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.5262G>T (p.Lys1754Asn)
|
rs748900588
|
0.00001
|
NM_000051.4(ATM):c.5290del (p.Leu1764fs)
|
rs587779846
|
0.00001
|
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs)
|
rs1214541502
|
0.00001
|
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr)
|
rs773546064
|
0.00001
|
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe)
|
rs764784077
|
0.00001
|
NM_000051.4(ATM):c.5561C>G (p.Thr1854Arg)
|
rs138710254
|
0.00001
|
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)
|
rs786204433
|
0.00001
|
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln)
|
rs587782236
|
0.00001
|
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)
|
rs775036118
|
0.00001
|
NM_000051.4(ATM):c.5728C>A (p.Leu1910Ile)
|
rs143577586
|
0.00001
|
NM_000051.4(ATM):c.5750G>C (p.Arg1917Thr)
|
rs377289524
|
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.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00001
|
NM_000051.4(ATM):c.5930T>C (p.Phe1977Ser)
|
rs780867575
|
0.00001
|
NM_000051.4(ATM):c.5971G>A (p.Glu1991Lys)
|
rs786203404
|
0.00001
|
NM_000051.4(ATM):c.6025T>C (p.Tyr2009His)
|
rs199586999
|
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.6122T>C (p.Met2041Thr)
|
rs1000032847
|
0.00001
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000051.4(ATM):c.6247G>A (p.Gly2083Arg)
|
rs1060501586
|
0.00001
|
NM_000051.4(ATM):c.6257A>T (p.Tyr2086Phe)
|
rs730881380
|
0.00001
|
NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser)
|
rs946942912
|
0.00001
|
NM_000051.4(ATM):c.6296A>G (p.His2099Arg)
|
rs587782802
|
0.00001
|
NM_000051.4(ATM):c.6332A>G (p.His2111Arg)
|
rs876658300
|
0.00001
|
NM_000051.4(ATM):c.6412A>G (p.Arg2138Gly)
|
rs752069869
|
0.00001
|
NM_000051.4(ATM):c.6420C>A (p.Phe2140Leu)
|
rs587780635
|
0.00001
|
NM_000051.4(ATM):c.6482G>A (p.Arg2161His)
|
rs756626462
|
0.00001
|
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr)
|
rs878853532
|
0.00001
|
NM_000051.4(ATM):c.6551G>C (p.Ser2184Thr)
|
rs374551964
|
0.00001
|
NM_000051.4(ATM):c.6573-2A>G
|
rs751168951
|
0.00001
|
NM_000051.4(ATM):c.6652A>C (p.Ser2218Arg)
|
rs749261367
|
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.6739A>G (p.Ile2247Val)
|
rs587781521
|
0.00001
|
NM_000051.4(ATM):c.6741T>G (p.Ile2247Met)
|
rs876658607
|
0.00001
|
NM_000051.4(ATM):c.6835A>G (p.Lys2279Glu)
|
rs756898113
|
0.00001
|
NM_000051.4(ATM):c.6929G>A (p.Ser2310Asn)
|
rs1381019767
|
0.00001
|
NM_000051.4(ATM):c.692A>G (p.His231Arg)
|
rs587782229
|
0.00001
|
NM_000051.4(ATM):c.6931A>G (p.Ile2311Val)
|
rs776429506
|
0.00001
|
NM_000051.4(ATM):c.6942A>C (p.Gln2314His)
|
rs764859160
|
0.00001
|
NM_000051.4(ATM):c.6952A>G (p.Lys2318Glu)
|
rs1449259481
|
0.00001
|
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val)
|
rs200940211
|
0.00001
|
NM_000051.4(ATM):c.6975+5G>T
|
rs575354684
|
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.712A>G (p.Ile238Val)
|
rs754275014
|
0.00001
|
NM_000051.4(ATM):c.7135C>G (p.Leu2379Val)
|
rs778888033
|
0.00001
|
NM_000051.4(ATM):c.7156G>C (p.Ala2386Pro)
|
rs876659392
|
0.00001
|
NM_000051.4(ATM):c.7291A>G (p.Lys2431Glu)
|
rs864622563
|
0.00001
|
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala)
|
rs776266049
|
0.00001
|
NM_000051.4(ATM):c.7320G>C (p.Lys2440Asn)
|
rs751537332
|
0.00001
|
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln)
|
rs587782310
|
0.00001
|
NM_000051.4(ATM):c.7357C>T (p.Arg2453Cys)
|
rs755418571
|
0.00001
|
NM_000051.4(ATM):c.7382G>A (p.Arg2461His)
|
rs768461085
|
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.7463G>A (p.Cys2488Tyr)
|
rs774281788
|
0.00001
|
NM_000051.4(ATM):c.7484C>T (p.Ser2495Phe)
|
rs1449747119
|
0.00001
|
NM_000051.4(ATM):c.7509G>A (p.Met2503Ile)
|
rs1266101531
|
0.00001
|
NM_000051.4(ATM):c.7531A>T (p.Ile2511Phe)
|
rs146069748
|
0.00001
|
NM_000051.4(ATM):c.7629+2T>C
|
rs786203059
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.76G>C (p.Glu26Gln)
|
rs730881361
|
0.00001
|
NM_000051.4(ATM):c.7744A>G (p.Arg2582Gly)
|
rs750224234
|
0.00001
|
NM_000051.4(ATM):c.7865C>G (p.Ala2622Gly)
|
rs766351395
|
0.00001
|
NM_000051.4(ATM):c.78A>T (p.Glu26Asp)
|
rs786202953
|
0.00001
|
NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn)
|
rs730881384
|
0.00001
|
NM_000051.4(ATM):c.8000T>C (p.Met2667Thr)
|
rs1060501566
|
0.00001
|
NM_000051.4(ATM):c.8010G>A (p.Lys2670=)
|
rs1013244700
|
0.00001
|
NM_000051.4(ATM):c.811C>A (p.Leu271Ile)
|
rs730881339
|
0.00001
|
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys)
|
rs138526014
|
0.00001
|
NM_000051.4(ATM):c.8213T>G (p.Leu2738Ter)
|
rs773889320
|
0.00001
|
NM_000051.4(ATM):c.8228C>T (p.Thr2743Met)
|
rs730881321
|
0.00001
|
NM_000051.4(ATM):c.8261C>T (p.Thr2754Ile)
|
rs587779871
|
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.8327T>C (p.Ile2776Thr)
|
rs746475628
|
0.00001
|
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp)
|
rs772992098
|
0.00001
|
NM_000051.4(ATM):c.8461A>G (p.Met2821Val)
|
rs876660081
|
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.8546G>C (p.Arg2849Pro)
|
rs587782202
|
0.00001
|
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)
|
rs876658716
|
0.00001
|
NM_000051.4(ATM):c.8581A>G (p.Ile2861Val)
|
rs1555138472
|
0.00001
|
NM_000051.4(ATM):c.8584+2T>C
|
rs730881326
|
0.00001
|
NM_000051.4(ATM):c.8593A>G (p.Ile2865Val)
|
rs786202223
|
0.00001
|
NM_000051.4(ATM):c.8615_8616del (p.His2872fs)
|
rs1232259438
|
0.00001
|
NM_000051.4(ATM):c.8656G>A (p.Val2886Ile)
|
rs1064795066
|
0.00001
|
NM_000051.4(ATM):c.8716G>A (p.Val2906Ile)
|
rs587780643
|
0.00001
|
NM_000051.4(ATM):c.8741T>C (p.Ile2914Thr)
|
rs780303327
|
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.8805G>A (p.Met2935Ile)
|
rs772621438
|
0.00001
|
NM_000051.4(ATM):c.8810T>C (p.Val2937Ala)
|
rs587782149
|
0.00001
|
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs)
|
rs758814126
|
0.00001
|
NM_000051.4(ATM):c.884C>A (p.Ala295Asp)
|
rs1044092081
|
0.00001
|
NM_000051.4(ATM):c.8915A>G (p.Gln2972Arg)
|
rs763773991
|
0.00001
|
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu)
|
rs147695170
|
0.00001
|
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile)
|
rs142322668
|
0.00001
|
NM_000051.4(ATM):c.8988-1G>C
|
rs730881386
|
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.9142C>G (p.Leu3048Val)
|
rs876660534
|
0.00001
|
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu)
|
rs371767164
|
0.00001
|
NM_000051.4(ATM):c.958G>A (p.Val320Met)
|
rs1060501655
|
0.00001
|
NM_000051.4(ATM):c.977T>C (p.Ile326Thr)
|
rs768720856
|
0.00001
|
NM_000059.4(BRCA2):c.107C>T (p.Ser36Phe)
|
rs730881554
|
0.00001
|
NM_000059.4(BRCA2):c.1800T>A (p.Tyr600Ter)
|
rs80358464
|
0.00001
|
NM_000059.4(BRCA2):c.1818G>A (p.Pro606=)
|
rs76844014
|
0.00001
|
NM_000059.4(BRCA2):c.181C>G (p.Leu61Val)
|
rs771011731
|
0.00001
|
NM_000059.4(BRCA2):c.1970T>A (p.Leu657Ter)
|
rs397507279
|
0.00001
|
NM_000059.4(BRCA2):c.2092del (p.Leu698fs)
|
rs80359322
|
0.00001
|
NM_000059.4(BRCA2):c.232C>T (p.Pro78Ser)
|
rs398122745
|
0.00001
|
NM_000059.4(BRCA2):c.240A>G (p.Ile80Met)
|
rs80358505
|
0.00001
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
NM_000059.4(BRCA2):c.298A>G (p.Lys100Glu)
|
rs80358546
|
0.00001
|
NM_000059.4(BRCA2):c.301T>C (p.Phe101Leu)
|
rs2072290175
|
0.00001
|
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter)
|
rs80358556
|
0.00001
|
NM_000059.4(BRCA2):c.3158T>G (p.Leu1053Ter)
|
rs41293477
|
0.00001
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
NM_000059.4(BRCA2):c.3450dup (p.Ile1151fs)
|
rs397507668
|
0.00001
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
0.00001
|
NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter)
|
rs80358631
|
0.00001
|
NM_000059.4(BRCA2):c.3893T>C (p.Ile1298Thr)
|
rs80358633
|
0.00001
|
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter)
|
rs80358648
|
0.00001
|
NM_000059.4(BRCA2):c.413G>T (p.Cys138Phe)
|
rs397507324
|
0.00001
|
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn)
|
rs397507713
|
0.00001
|
NM_000059.4(BRCA2):c.442T>C (p.Cys148Arg)
|
rs80358677
|
0.00001
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter)
|
rs80358695
|
0.00001
|
NM_000059.4(BRCA2):c.489_490insG (p.Leu164fs)
|
rs120074205
|
0.00001
|
NM_000059.4(BRCA2):c.562G>A (p.Val188Met)
|
rs1555281063
|
0.00001
|
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)
|
rs80359541
|
0.00001
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
rs80358814
|
0.00001
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
NM_000059.4(BRCA2):c.6065C>G (p.Ser2022Ter)
|
rs80358843
|
0.00001
|
NM_000059.4(BRCA2):c.620C>T (p.Thr207Ile)
|
rs41293471
|
0.00001
|
NM_000059.4(BRCA2):c.631+2T>G
|
rs81002899
|
0.00001
|
NM_000059.4(BRCA2):c.632-3C>G
|
rs568027879
|
0.00001
|
NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs)
|
rs80359616
|
0.00001
|
NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys)
|
rs80358914
|
0.00001
|
NM_000059.4(BRCA2):c.694T>C (p.Tyr232His)
|
rs398122572
|
0.00001
|
NM_000059.4(BRCA2):c.6966G>T (p.Met2322Ile)
|
rs80358924
|
0.00001
|
NM_000059.4(BRCA2):c.6998dup (p.Pro2334fs)
|
rs754611265
|
0.00001
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
NM_000059.4(BRCA2):c.7063G>T (p.Glu2355Ter)
|
rs200078639
|
0.00001
|
NM_000059.4(BRCA2):c.707A>G (p.His236Arg)
|
rs80358938
|
0.00001
|
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys)
|
rs80358940
|
0.00001
|
NM_000059.4(BRCA2):c.7115C>G (p.Ser2372Ter)
|
rs80358943
|
0.00001
|
NM_000059.4(BRCA2):c.712G>C (p.Glu238Gln)
|
rs56383036
|
0.00001
|
NM_000059.4(BRCA2):c.714_716dup (p.Glu238_Ser239insArg)
|
rs80359640
|
0.00001
|
NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter)
|
rs80358946
|
0.00001
|
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly)
|
rs80358966
|
0.00001
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
NM_000059.4(BRCA2):c.7540A>G (p.Lys2514Glu)
|
rs864622624
|
0.00001
|
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)
|
rs80358981
|
0.00001
|
NM_000059.4(BRCA2):c.7585G>A (p.Gly2529Ser)
|
rs398122585
|
0.00001
|
NM_000059.4(BRCA2):c.7605T>G (p.Cys2535Trp)
|
rs966152147
|
0.00001
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
NM_000059.4(BRCA2):c.7637C>T (p.Ser2546Phe)
|
rs398122586
|
0.00001
|
NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter)
|
rs80359003
|
0.00001
|
NM_000059.4(BRCA2):c.7771A>G (p.Asn2591Asp)
|
rs778060629
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter)
|
rs80359013
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
NM_000059.4(BRCA2):c.7882A>G (p.Ile2628Val)
|
rs1483187442
|
0.00001
|
NM_000059.4(BRCA2):c.793+1G>A
|
rs81002846
|
0.00001
|
NM_000059.4(BRCA2):c.79A>G (p.Ile27Val)
|
rs80359034
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg)
|
rs587782519
|
0.00001
|
NM_000059.4(BRCA2):c.8045C>T (p.Ala2682Val)
|
rs773506092
|
0.00001
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
NM_000059.4(BRCA2):c.8171G>A (p.Gly2724Glu)
|
rs80359063
|
0.00001
|
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys)
|
rs80359064
|
0.00001
|
NM_000059.4(BRCA2):c.8179G>T (p.Ala2727Ser)
|
rs730881582
|
0.00001
|
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)
|
rs80359071
|
0.00001
|
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)
|
rs80359705
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)
|
rs80359076
|
0.00001
|
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)
|
rs80359082
|
0.00001
|
NM_000059.4(BRCA2):c.8382C>G (p.Phe2794Leu)
|
rs80359084
|
0.00001
|
NM_000059.4(BRCA2):c.8422C>G (p.Leu2808Val)
|
rs786203867
|
0.00001
|
NM_000059.4(BRCA2):c.8450G>T (p.Cys2817Phe)
|
rs786201992
|
0.00001
|
NM_000059.4(BRCA2):c.8452G>A (p.Val2818Ile)
|
rs80359094
|
0.00001
|
NM_000059.4(BRCA2):c.8518A>G (p.Ile2840Val)
|
rs80359103
|
0.00001
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
NM_000059.4(BRCA2):c.8531A>G (p.Glu2844Gly)
|
rs900871740
|
0.00001
|
NM_000059.4(BRCA2):c.8551G>T (p.Ala2851Ser)
|
rs876658592
|
0.00001
|
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs)
|
rs80359718
|
0.00001
|
NM_000059.4(BRCA2):c.8663G>A (p.Arg2888His)
|
rs80359124
|
0.00001
|
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys)
|
rs373203204
|
0.00001
|
NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly)
|
rs80359130
|
0.00001
|
NM_000059.4(BRCA2):c.8798G>C (p.Arg2933Thr)
|
rs553440338
|
0.00001
|
NM_000059.4(BRCA2):c.8915T>G (p.Leu2972Trp)
|
rs80359142
|
0.00001
|
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)
|
rs80359159
|
0.00001
|
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu)
|
rs202155613
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)
|
rs45580035
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000059.4(BRCA2):c.9403C>T (p.Leu3135Phe)
|
rs55704151
|
0.00001
|
NM_000059.4(BRCA2):c.9539T>C (p.Leu3180Pro)
|
rs397507431
|
0.00001
|
NM_000059.4(BRCA2):c.9610A>G (p.Thr3204Ala)
|
rs80359231
|
0.00001
|
NM_000059.4(BRCA2):c.9648+1G>C
|
rs730881573
|
0.00001
|
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)
|
rs80359773
|
0.00001
|
NM_000059.4(BRCA2):c.9821T>G (p.Leu3274Trp)
|
rs431825380
|
0.00001
|
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)
|
rs730881619
|
0.00001
|
NM_000465.4(BARD1):c.1007G>A (p.Cys336Tyr)
|
rs779527817
|
0.00001
|
NM_000465.4(BARD1):c.1180A>G (p.Thr394Ala)
|
rs587782548
|
0.00001
|
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter)
|
rs796666047
|
0.00001
|
NM_000465.4(BARD1):c.1213A>G (p.Arg405Gly)
|
rs876659886
|
0.00001
|
NM_000465.4(BARD1):c.152C>T (p.Ser51Leu)
|
rs766788652
|
0.00001
|
NM_000465.4(BARD1):c.1571A>G (p.Asn524Ser)
|
rs587781887
|
0.00001
|
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)
|
rs587781707
|
0.00001
|
NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr)
|
rs587780022
|
0.00001
|
NM_000465.4(BARD1):c.1721G>T (p.Gly574Val)
|
rs1218730514
|
0.00001
|
NM_000465.4(BARD1):c.173G>A (p.Arg58Lys)
|
rs774009993
|
0.00001
|
NM_000465.4(BARD1):c.1751T>C (p.Met584Thr)
|
rs1392588415
|
0.00001
|
NM_000465.4(BARD1):c.1757G>T (p.Ser586Ile)
|
rs369756202
|
0.00001
|
NM_000465.4(BARD1):c.1808C>A (p.Thr603Lys)
|
rs730881421
|
0.00001
|
NM_000465.4(BARD1):c.1817_1818del (p.His606fs)
|
rs587782897
|
0.00001
|
NM_000465.4(BARD1):c.1844A>G (p.Gln615Arg)
|
rs764418221
|
0.00001
|
NM_000465.4(BARD1):c.1883G>T (p.Cys628Phe)
|
rs1227794803
|
0.00001
|
NM_000465.4(BARD1):c.1940A>G (p.Gln647Arg)
|
rs786202232
|
0.00001
|
NM_000465.4(BARD1):c.2008A>G (p.Lys670Glu)
|
rs775039040
|
0.00001
|
NM_000465.4(BARD1):c.2020G>A (p.Gly674Arg)
|
rs1328046615
|
0.00001
|
NM_000465.4(BARD1):c.2066A>G (p.Asp689Gly)
|
rs1060501312
|
0.00001
|
NM_000465.4(BARD1):c.2075T>C (p.Ile692Thr)
|
rs587782555
|
0.00001
|
NM_000465.4(BARD1):c.2080C>T (p.Leu694Phe)
|
rs1553612199
|
0.00001
|
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val)
|
rs150121935
|
0.00001
|
NM_000465.4(BARD1):c.2248G>A (p.Val750Ile)
|
rs34677017
|
0.00001
|
NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp)
|
rs139785364
|
0.00001
|
NM_000465.4(BARD1):c.2294A>G (p.Asp765Gly)
|
rs730881426
|
0.00001
|
NM_000465.4(BARD1):c.2324_2325del (p.Leu775fs)
|
rs587782046
|
0.00001
|
NM_000465.4(BARD1):c.274A>T (p.Ile92Leu)
|
rs750878896
|
0.00001
|
NM_000465.4(BARD1):c.292A>G (p.Asn98Asp)
|
rs1444375563
|
0.00001
|
NM_000465.4(BARD1):c.325A>C (p.Ser109Arg)
|
rs764746353
|
0.00001
|
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter)
|
rs758972589
|
0.00001
|
NM_000465.4(BARD1):c.415A>G (p.Lys139Glu)
|
rs587782395
|
0.00001
|
NM_000465.4(BARD1):c.427A>G (p.Ile143Val)
|
rs1060501289
|
0.00001
|
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter)
|
rs730881411
|
0.00001
|
NM_000465.4(BARD1):c.449G>A (p.Arg150Gln)
|
rs730881412
|
0.00001
|
NM_000465.4(BARD1):c.554C>T (p.Pro185Leu)
|
rs927697548
|
0.00001
|
NM_000465.4(BARD1):c.586A>G (p.Lys196Glu)
|
rs376259263
|
0.00001
|
NM_000465.4(BARD1):c.614A>G (p.Lys205Arg)
|
rs587782437
|
0.00001
|
NM_000465.4(BARD1):c.73G>C (p.Ala25Pro)
|
rs751646468
|
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_000465.4(BARD1):c.965G>A (p.Arg322His)
|
rs774251286
|
0.00001
|
NM_000465.4(BARD1):c.986C>G (p.Ser329Cys)
|
rs905626929
|
0.00001
|
NM_004360.5(CDH1):c.1070C>A (p.Thr357Lys)
|
rs1260033180
|
0.00001
|
NM_004360.5(CDH1):c.1079C>G (p.Thr360Arg)
|
rs549579183
|
0.00001
|
NM_004360.5(CDH1):c.112A>G (p.Thr38Ala)
|
rs786203442
|
0.00001
|
NM_004360.5(CDH1):c.1137+1G>A
|
rs876660771
|
0.00001
|
NM_004360.5(CDH1):c.1202C>A (p.Ala401Asp)
|
rs150795245
|
0.00001
|
NM_004360.5(CDH1):c.125C>T (p.Pro42Leu)
|
rs876659333
|
0.00001
|
NM_004360.5(CDH1):c.1315G>A (p.Ala439Thr)
|
rs758764445
|
0.00001
|
NM_004360.5(CDH1):c.1334A>C (p.Glu445Ala)
|
rs374398608
|
0.00001
|
NM_004360.5(CDH1):c.1351A>C (p.Ile451Leu)
|
rs377416092
|
0.00001
|
NM_004360.5(CDH1):c.1525A>G (p.Thr509Ala)
|
rs761356661
|
0.00001
|
NM_004360.5(CDH1):c.1526C>A (p.Thr509Asn)
|
rs771551231
|
0.00001
|
NM_004360.5(CDH1):c.1566-1G>C
|
rs113583899
|
0.00001
|
NM_004360.5(CDH1):c.1612G>T (p.Asp538Tyr)
|
rs756154596
|
0.00001
|
NM_004360.5(CDH1):c.199G>A (p.Ala67Thr)
|
rs1060501247
|
0.00001
|
NM_004360.5(CDH1):c.2026G>A (p.Asp676Asn)
|
rs115408226
|
0.00001
|
NM_004360.5(CDH1):c.203A>G (p.Tyr68Cys)
|
rs1284989530
|
0.00001
|
NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp)
|
rs864622198
|
0.00001
|
NM_004360.5(CDH1):c.2195G>T (p.Arg732Leu)
|
rs1060501244
|
0.00001
|
NM_004360.5(CDH1):c.2201G>C (p.Arg734Thr)
|
rs587781859
|
0.00001
|
NM_004360.5(CDH1):c.2281G>A (p.Gly761Arg)
|
rs779648243
|
0.00001
|
NM_004360.5(CDH1):c.2318A>G (p.His773Arg)
|
rs587782823
|
0.00001
|
NM_004360.5(CDH1):c.2398C>T (p.Arg800Cys)
|
rs587782162
|
0.00001
|
NM_004360.5(CDH1):c.244G>A (p.Val82Met)
|
rs1064793867
|
0.00001
|
NM_004360.5(CDH1):c.2459C>T (p.Thr820Ile)
|
rs767159815
|
0.00001
|
NM_004360.5(CDH1):c.251C>T (p.Thr84Ile)
|
rs754388534
|
0.00001
|
NM_004360.5(CDH1):c.2545A>G (p.Asn849Asp)
|
rs876660881
|
0.00001
|
NM_004360.5(CDH1):c.2549C>G (p.Ser850Cys)
|
rs1337211551
|
0.00001
|
NM_004360.5(CDH1):c.261G>C (p.Arg87Ser)
|
rs878854689
|
0.00001
|
NM_004360.5(CDH1):c.2629G>A (p.Gly877Arg)
|
rs555842031
|
0.00001
|
NM_004360.5(CDH1):c.387+1G>A
|
rs587781919
|
0.00001
|
NM_004360.5(CDH1):c.602C>G (p.Pro201Arg)
|
rs146777134
|
0.00001
|
NM_004360.5(CDH1):c.620T>C (p.Ile207Thr)
|
rs778570149
|
0.00001
|
NM_004360.5(CDH1):c.679A>G (p.Thr227Ala)
|
rs1064796018
|
0.00001
|
NM_004360.5(CDH1):c.731A>G (p.Asp244Gly)
|
rs1064794231
|
0.00001
|
NM_004360.5(CDH1):c.805G>A (p.Gly269Arg)
|
rs750979600
|
0.00001
|
NM_004360.5(CDH1):c.901G>A (p.Ala301Thr)
|
rs749056300
|
0.00001
|
NM_007194.4(CHEK2):c.1009-7T>G
|
rs763174055
|
0.00001
|
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter)
|
rs760502479
|
0.00001
|
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser)
|
rs730881705
|
0.00001
|
NM_007194.4(CHEK2):c.1027A>G (p.Ile343Val)
|
rs141502354
|
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.1052A>C (p.Glu351Ala)
|
rs786202893
|
0.00001
|
NM_007194.4(CHEK2):c.1076A>G (p.Glu359Gly)
|
rs760449049
|
0.00001
|
NM_007194.4(CHEK2):c.1084T>C (p.Cys362Arg)
|
rs1064793339
|
0.00001
|
NM_007194.4(CHEK2):c.1154G>A (p.Cys385Tyr)
|
rs145324174
|
0.00001
|
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu)
|
rs730881690
|
0.00001
|
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys)
|
rs587780169
|
0.00001
|
NM_007194.4(CHEK2):c.1182A>T (p.Glu394Asp)
|
rs786202164
|
0.00001
|
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala)
|
rs121908704
|
0.00001
|
NM_007194.4(CHEK2):c.1204G>A (p.Ala402Thr)
|
rs758206293
|
0.00001
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
0.00001
|
NM_007194.4(CHEK2):c.1260-8A>G
|
rs863224747
|
0.00001
|
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn)
|
rs549755590
|
0.00001
|
NM_007194.4(CHEK2):c.1321A>G (p.Thr441Ala)
|
rs876660046
|
0.00001
|
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)
|
rs763395924
|
0.00001
|
NM_007194.4(CHEK2):c.1361A>G (p.Glu454Gly)
|
rs1233346197
|
0.00001
|
NM_007194.4(CHEK2):c.1375G>C (p.Ala459Pro)
|
rs769729382
|
0.00001
|
NM_007194.4(CHEK2):c.1376-13A>G
|
rs1064793330
|
0.00001
|
NM_007194.4(CHEK2):c.1391A>G (p.Lys464Arg)
|
rs529571124
|
0.00001
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
NM_007194.4(CHEK2):c.1448A>G (p.His483Arg)
|
rs587780177
|
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.1547C>G (p.Ser516Cys)
|
rs1601698243
|
0.00001
|
NM_007194.4(CHEK2):c.1552A>G (p.Ser518Gly)
|
rs753560465
|
0.00001
|
NM_007194.4(CHEK2):c.200C>A (p.Ser67Tyr)
|
rs886041171
|
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.368A>G (p.Tyr123Cys)
|
rs876658557
|
0.00001
|
NM_007194.4(CHEK2):c.391A>G (p.Lys131Glu)
|
rs1275395933
|
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.436A>C (p.Ile146Leu)
|
rs781678896
|
0.00001
|
NM_007194.4(CHEK2):c.444+5G>A
|
rs189961251
|
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.520C>T (p.Leu174Phe)
|
rs876659400
|
0.00001
|
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val)
|
rs587780185
|
0.00001
|
NM_007194.4(CHEK2):c.575C>T (p.Ser192Leu)
|
rs899211928
|
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.661A>G (p.Ile221Val)
|
rs199749372
|
0.00001
|
NM_007194.4(CHEK2):c.684-7_694del
|
rs1555921323
|
0.00001
|
NM_007194.4(CHEK2):c.792+2T>C
|
rs545982789
|
0.00001
|
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser)
|
rs587782196
|
0.00001
|
NM_007194.4(CHEK2):c.846+1G>C
|
rs864622149
|
0.00001
|
NM_007194.4(CHEK2):c.855C>G (p.Ile285Met)
|
rs756692505
|
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.906A>C (p.Glu302Asp)
|
rs587780190
|
0.00001
|
NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp)
|
rs587780191
|
0.00001
|
NM_007194.4(CHEK2):c.934A>G (p.Lys312Glu)
|
rs1064795532
|
0.00001
|
NM_007294.4(BRCA1):c.213-11T>G
|
rs80358061
|
0.00001
|
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter)
|
rs80357366
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.5136G>A (p.Trp1712Ter)
|
rs80357418
|
0.00001
|
NM_024675.4(PALB2):c.1052C>A (p.Thr351Lys)
|
rs876658656
|
0.00001
|
NM_024675.4(PALB2):c.10C>T (p.Pro4Ser)
|
rs587782483
|
0.00001
|
NM_024675.4(PALB2):c.1111G>A (p.Glu371Lys)
|
rs1312378621
|
0.00001
|
NM_024675.4(PALB2):c.1130A>C (p.Gln377Pro)
|
rs1358484245
|
0.00001
|
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)
|
rs1257545151
|
0.00001
|
NM_024675.4(PALB2):c.1178A>G (p.Lys393Arg)
|
rs765898856
|
0.00001
|
NM_024675.4(PALB2):c.1181A>T (p.His394Leu)
|
rs762430363
|
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.127A>G (p.Lys43Glu)
|
rs765125459
|
0.00001
|
NM_024675.4(PALB2):c.1343G>A (p.Ser448Asn)
|
rs956172059
|
0.00001
|
NM_024675.4(PALB2):c.1348A>C (p.Asn450His)
|
rs62625274
|
0.00001
|
NM_024675.4(PALB2):c.137A>G (p.His46Arg)
|
rs1290624507
|
0.00001
|
NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg)
|
rs768482110
|
0.00001
|
NM_024675.4(PALB2):c.1468C>G (p.Pro490Ala)
|
rs878855101
|
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.1675C>T (p.Gln559Ter)
|
rs1555461154
|
0.00001
|
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)
|
rs746582620
|
0.00001
|
NM_024675.4(PALB2):c.1742T>C (p.Leu581Ser)
|
rs1060502755
|
0.00001
|
NM_024675.4(PALB2):c.1886C>T (p.Ser629Phe)
|
rs1169756751
|
0.00001
|
NM_024675.4(PALB2):c.1891T>C (p.Ser631Pro)
|
rs1555460600
|
0.00001
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
0.00001
|
NM_024675.4(PALB2):c.1985A>G (p.Lys662Arg)
|
rs1441798714
|
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.2087C>T (p.Thr696Met)
|
rs587780820
|
0.00001
|
NM_024675.4(PALB2):c.2104A>C (p.Ile702Leu)
|
rs587781888
|
0.00001
|
NM_024675.4(PALB2):c.2129C>T (p.Thr710Met)
|
rs759024828
|
0.00001
|
NM_024675.4(PALB2):c.229del (p.Cys77fs)
|
rs180177084
|
0.00001
|
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)
|
rs764509489
|
0.00001
|
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr)
|
rs786203608
|
0.00001
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
rs180177112
|
0.00001
|
NM_024675.4(PALB2):c.2411C>T (p.Ser804Phe)
|
rs149836639
|
0.00001
|
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu)
|
rs774502617
|
0.00001
|
NM_024675.4(PALB2):c.2512C>G (p.Gln838Glu)
|
rs750650768
|
0.00001
|
NM_024675.4(PALB2):c.2514+3A>G
|
rs515726088
|
0.00001
|
NM_024675.4(PALB2):c.2559C>T (p.Gly853=)
|
rs180177115
|
0.00001
|
NM_024675.4(PALB2):c.2568A>C (p.Gln856His)
|
rs587781708
|
0.00001
|
NM_024675.4(PALB2):c.2587A>G (p.Asn863Asp)
|
rs776407568
|
0.00001
|
NM_024675.4(PALB2):c.2597G>A (p.Gly866Asp)
|
rs62625279
|
0.00001
|
NM_024675.4(PALB2):c.2606C>T (p.Ser869Phe)
|
rs779279139
|
0.00001
|
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)
|
rs587782387
|
0.00001
|
NM_024675.4(PALB2):c.2732C>A (p.Thr911Asn)
|
rs180177123
|
0.00001
|
NM_024675.4(PALB2):c.2744C>T (p.Ala915Val)
|
rs1459102959
|
0.00001
|
NM_024675.4(PALB2):c.2750T>C (p.Val917Ala)
|
rs763645981
|
0.00001
|
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg)
|
rs773831304
|
0.00001
|
NM_024675.4(PALB2):c.2896A>G (p.Ile966Val)
|
rs786204248
|
0.00001
|
NM_024675.4(PALB2):c.2920A>G (p.Lys974Glu)
|
rs1418709183
|
0.00001
|
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn)
|
rs730881892
|
0.00001
|
NM_024675.4(PALB2):c.2928G>T (p.Arg976Ser)
|
rs878855115
|
0.00001
|
NM_024675.4(PALB2):c.2971G>T (p.Val991Phe)
|
rs765175665
|
0.00001
|
NM_024675.4(PALB2):c.3014T>C (p.Phe1005Ser)
|
rs879254268
|
0.00001
|
NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile)
|
rs367840862
|
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.3125C>G (p.Thr1042Ser)
|
rs587780215
|
0.00001
|
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)
|
rs377713277
|
0.00001
|
NM_024675.4(PALB2):c.3201+1G>T
|
rs587776423
|
0.00001
|
NM_024675.4(PALB2):c.3225T>A (p.Ser1075Arg)
|
rs202222149
|
0.00001
|
NM_024675.4(PALB2):c.3236C>T (p.Ala1079Val)
|
rs769342316
|
0.00001
|
NM_024675.4(PALB2):c.3320T>C (p.Leu1107Pro)
|
rs149194681
|
0.00001
|
NM_024675.4(PALB2):c.3350+5G>A
|
rs587782566
|
0.00001
|
NM_024675.4(PALB2):c.3449T>G (p.Leu1150Arg)
|
rs45566737
|
0.00001
|
NM_024675.4(PALB2):c.3451C>T (p.Leu1151Phe)
|
rs786203462
|
0.00001
|
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)
|
rs773829275
|
0.00001
|
NM_024675.4(PALB2):c.3518C>T (p.Ala1173Val)
|
rs146659762
|
0.00001
|
NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val)
|
rs863224788
|
0.00001
|
NM_024675.4(PALB2):c.3545T>C (p.Val1182Ala)
|
rs747149179
|
0.00001
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys)
|
rs373287455
|
0.00001
|
NM_024675.4(PALB2):c.406A>T (p.Ser136Cys)
|
rs144496685
|
0.00001
|
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)
|
rs587782005
|
0.00001
|
NM_024675.4(PALB2):c.590C>T (p.Thr197Ile)
|
rs367945485
|
0.00001
|
NM_024675.4(PALB2):c.62T>G (p.Leu21Ter)
|
rs769240800
|
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.814G>A (p.Glu272Lys)
|
rs515726127
|
0.00001
|
NM_024675.4(PALB2):c.841A>T (p.Ile281Phe)
|
rs751882053
|
0.00001
|
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)
|
rs786203821
|
0.00001
|
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)
|
rs755796609
|
0.00001
|
NM_032043.3(BRIP1):c.1054T>C (p.Tyr352His)
|
rs730881632
|
0.00001
|
NM_032043.3(BRIP1):c.1057T>C (p.Tyr353His)
|
rs1567831780
|
0.00001
|
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)
|
rs730881633
|
0.00001
|
NM_032043.3(BRIP1):c.1105T>C (p.Tyr369His)
|
rs587781325
|
0.00001
|
NM_032043.3(BRIP1):c.1114C>T (p.Leu372Phe)
|
rs786202637
|
0.00001
|
NM_032043.3(BRIP1):c.1187A>G (p.His396Arg)
|
rs996493095
|
0.00001
|
NM_032043.3(BRIP1):c.1188dup (p.Asn397Ter)
|
rs1603342313
|
0.00001
|
NM_032043.3(BRIP1):c.1195G>A (p.Glu399Lys)
|
rs587782816
|
0.00001
|
NM_032043.3(BRIP1):c.1198G>T (p.Asp400Tyr)
|
rs764711572
|
0.00001
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
NM_032043.3(BRIP1):c.1268A>G (p.Asp423Gly)
|
rs746778889
|
0.00001
|
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)
|
rs587780226
|
0.00001
|
NM_032043.3(BRIP1):c.1363T>A (p.Tyr455Asn)
|
rs587780826
|
0.00001
|
NM_032043.3(BRIP1):c.1375A>G (p.Arg459Gly)
|
rs752052351
|
0.00001
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
NM_032043.3(BRIP1):c.1467T>G (p.Ile489Met)
|
rs587780230
|
0.00001
|
NM_032043.3(BRIP1):c.1586G>A (p.Gly529Glu)
|
rs138784299
|
0.00001
|
NM_032043.3(BRIP1):c.1594A>G (p.Met532Val)
|
rs876658383
|
0.00001
|
NM_032043.3(BRIP1):c.1594dup (p.Met532fs)
|
rs1339743866
|
0.00001
|
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu)
|
rs754414731
|
0.00001
|
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met)
|
rs587782254
|
0.00001
|
NM_032043.3(BRIP1):c.1670C>T (p.Ser557Phe)
|
rs1375911072
|
0.00001
|
NM_032043.3(BRIP1):c.1672T>C (p.Trp558Arg)
|
rs767648925
|
0.00001
|
NM_032043.3(BRIP1):c.1704T>G (p.Asn568Lys)
|
rs763458922
|
0.00001
|
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu)
|
rs756946068
|
0.00001
|
NM_032043.3(BRIP1):c.1794+1G>A
|
rs766516963
|
0.00001
|
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)
|
rs575595017
|
0.00001
|
NM_032043.3(BRIP1):c.1942G>A (p.Val648Ile)
|
rs780475484
|
0.00001
|
NM_032043.3(BRIP1):c.1952T>C (p.Ile651Thr)
|
rs757305097
|
0.00001
|
NM_032043.3(BRIP1):c.1969G>C (p.Gly657Arg)
|
rs1051619247
|
0.00001
|
NM_032043.3(BRIP1):c.2056A>G (p.Thr686Ala)
|
rs769820537
|
0.00001
|
NM_032043.3(BRIP1):c.205G>A (p.Gly69Arg)
|
rs372581879
|
0.00001
|
NM_032043.3(BRIP1):c.206-2A>G
|
rs786203700
|
0.00001
|
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu)
|
rs587782356
|
0.00001
|
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)
|
rs764803896
|
0.00001
|
NM_032043.3(BRIP1):c.2167G>A (p.Val723Ile)
|
rs145616741
|
0.00001
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
0.00001
|
NM_032043.3(BRIP1):c.2284C>T (p.Arg762Cys)
|
rs587778136
|
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.2402A>G (p.Asn801Ser)
|
rs1325317591
|
0.00001
|
NM_032043.3(BRIP1):c.2428C>G (p.Leu810Val)
|
rs587780238
|
0.00001
|
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)
|
rs45468199
|
0.00001
|
NM_032043.3(BRIP1):c.2464T>C (p.Tyr822His)
|
rs760887592
|
0.00001
|
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)
|
rs1483527885
|
0.00001
|
NM_032043.3(BRIP1):c.2492+5G>A
|
rs763222019
|
0.00001
|
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu)
|
rs587781830
|
0.00001
|
NM_032043.3(BRIP1):c.2569A>G (p.Ile857Val)
|
rs28904918
|
0.00001
|
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln)
|
rs781609846
|
0.00001
|
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)
|
rs587782410
|
0.00001
|
NM_032043.3(BRIP1):c.2788T>C (p.Ser930Pro)
|
rs1384396768
|
0.00001
|
NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val)
|
rs863224801
|
0.00001
|
NM_032043.3(BRIP1):c.2802T>G (p.Phe934Leu)
|
rs1259968679
|
0.00001
|
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu)
|
rs587782679
|
0.00001
|
NM_032043.3(BRIP1):c.2905+3A>G
|
rs1555573247
|
0.00001
|
NM_032043.3(BRIP1):c.2936A>G (p.Lys979Arg)
|
rs2061326120
|
0.00001
|
NM_032043.3(BRIP1):c.3038C>T (p.Thr1013Ile)
|
rs1372474933
|
0.00001
|
NM_032043.3(BRIP1):c.3140T>C (p.Leu1047Ser)
|
rs786203344
|
0.00001
|
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter)
|
rs1420431000
|
0.00001
|
NM_032043.3(BRIP1):c.3388A>G (p.Ile1130Val)
|
rs786202549
|
0.00001
|
NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile)
|
rs778480809
|
0.00001
|
NM_032043.3(BRIP1):c.3533A>T (p.Glu1178Val)
|
rs752850661
|
0.00001
|
NM_032043.3(BRIP1):c.3556A>G (p.Lys1186Glu)
|
rs766709841
|
0.00001
|
NM_032043.3(BRIP1):c.3727G>T (p.Gly1243Cys)
|
rs587780250
|
0.00001
|
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)
|
rs747604569
|
0.00001
|
NM_032043.3(BRIP1):c.919-10T>G
|
rs748497834
|
0.00001
|
NM_032043.3(BRIP1):c.932A>G (p.Tyr311Cys)
|
rs587782731
|
0.00001
|
NM_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
NM_000051.4(ATM):c.-30-1G>T
|
rs869312754
|
|
NM_000051.4(ATM):c.1017del (p.Ile339fs)
|
rs1469427343
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
NM_000051.4(ATM):c.1044_1045del (p.Leu348fs)
|
rs2079890365
|
|
NM_000051.4(ATM):c.1045_1052del (p.Met349fs)
|
rs1565375817
|
|
NM_000051.4(ATM):c.1053dup (p.Ile352fs)
|
rs587781984
|
|
NM_000051.4(ATM):c.1058G>T (p.Cys353Phe)
|
|
|
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs)
|
rs1555068609
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
NM_000051.4(ATM):c.1066-2A>G
|
|
|
NM_000051.4(ATM):c.106_113del (p.Asp36fs)
|
|
|
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
|
|
|
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)
|
rs1555069617
|
|
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.1126_1127del (p.Glu376fs)
|
rs1064795624
|
|
NM_000051.4(ATM):c.1141dup (p.Ser381fs)
|
|
|
NM_000051.4(ATM):c.1158del (p.Lys387fs)
|
rs587782085
|
|
NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)
|
|
|
NM_000051.4(ATM):c.1172dup (p.Gly392fs)
|
|
|
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)
|
rs876659450
|
|
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.1219_1221dup (p.Phe407dup)
|
rs1064792998
|
|
NM_000051.4(ATM):c.121A>T (p.Lys41Ter)
|
|
|
NM_000051.4(ATM):c.1228G>A (p.Val410Met)
|
rs863224555
|
|
NM_000051.4(ATM):c.1235+1G>A
|
rs1555069881
|
|
NM_000051.4(ATM):c.1235+4A>G
|
rs786203147
|
|
NM_000051.4(ATM):c.1235+4_1235+5del
|
rs770033355
|
|
NM_000051.4(ATM):c.1236-2A>G
|
rs80159221
|
|
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter)
|
rs866521873
|
|
NM_000051.4(ATM):c.1268A>G (p.Tyr423Cys)
|
rs1064796159
|
|
NM_000051.4(ATM):c.1273G>A (p.Ala425Thr)
|
rs769214234
|
|
NM_000051.4(ATM):c.1274_1277del (p.Ala425fs)
|
rs1591523010
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln)
|
rs546621356
|
|
NM_000051.4(ATM):c.1333del (p.Gln445fs)
|
rs1060501701
|
|
NM_000051.4(ATM):c.1346G>A (p.Gly449Glu)
|
rs1163918420
|
|
NM_000051.4(ATM):c.1354A>G (p.Thr452Ala)
|
rs1324524747
|
|
NM_000051.4(ATM):c.1355del (p.Thr452fs)
|
rs587781776
|
|
NM_000051.4(ATM):c.1381G>A (p.Glu461Lys)
|
rs781578507
|
|
NM_000051.4(ATM):c.1396C>G (p.Gln466Glu)
|
rs876660485
|
|
NM_000051.4(ATM):c.1421G>T (p.Ser474Ile)
|
rs876659240
|
|
NM_000051.4(ATM):c.1431G>C (p.Lys477Asn)
|
rs1555070941
|
|
NM_000051.4(ATM):c.1468A>G (p.Ile490Val)
|
rs761850075
|
|
NM_000051.4(ATM):c.1492G>C (p.Glu498Gln)
|
rs1555071060
|
|
NM_000051.4(ATM):c.1514_1515del (p.Phe505fs)
|
rs1060501529
|
|
NM_000051.4(ATM):c.1524del (p.Gly509fs)
|
rs786204737
|
|
NM_000051.4(ATM):c.154G>T (p.Gly52Ter)
|
rs730881362
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.157A>C (p.Lys53Gln)
|
rs876659078
|
|
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.1622G>A (p.Cys541Tyr)
|
rs1555071682
|
|
NM_000051.4(ATM):c.1651G>T (p.Val551Phe)
|
rs1555071742
|
|
NM_000051.4(ATM):c.1660del (p.Thr554fs)
|
rs876658572
|
|
NM_000051.4(ATM):c.1703G>A (p.Arg568Lys)
|
rs200381392
|
|
NM_000051.4(ATM):c.1736G>A (p.Trp579Ter)
|
|
|
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs)
|
rs1057516721
|
|
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs)
|
rs1555072008
|
|
NM_000051.4(ATM):c.1758G>T (p.Glu586Asp)
|
rs1555072017
|
|
NM_000051.4(ATM):c.1772dup (p.Asn591fs)
|
rs1591528248
|
|
NM_000051.4(ATM):c.1775G>A (p.Ser592Asn)
|
rs776911505
|
|
NM_000051.4(ATM):c.1800C>T (p.His600=)
|
rs750715942
|
|
NM_000051.4(ATM):c.1801A>C (p.Ser601Arg)
|
|
|
NM_000051.4(ATM):c.1803-2A>G
|
rs1057517358
|
|
NM_000051.4(ATM):c.1834C>T (p.Leu612Phe)
|
rs747242300
|
|
NM_000051.4(ATM):c.183del (p.Phe61fs)
|
rs2135014976
|
|
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)
|
rs786203783
|
|
NM_000051.4(ATM):c.185+1G>A
|
rs112805604
|
|
NM_000051.4(ATM):c.1858T>C (p.Cys620Arg)
|
rs2080230578
|
|
NM_000051.4(ATM):c.1859G>A (p.Cys620Tyr)
|
|
|
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer)
|
rs2080230745
|
|
NM_000051.4(ATM):c.1877_1880del (p.Phe626fs)
|
|
|
NM_000051.4(ATM):c.1880dup (p.Gln628fs)
|
rs786202474
|
|
NM_000051.4(ATM):c.1882C>T (p.Gln628Ter)
|
rs2135354813
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
NM_000051.4(ATM):c.1899-17A>G
|
rs2135365023
|
|
NM_000051.4(ATM):c.1899-8T>A
|
|
|
NM_000051.4(ATM):c.1901A>T (p.Glu634Val)
|
rs1555073069
|
|
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs)
|
rs1555073111
|
|
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del)
|
rs876659575
|
|
NM_000051.4(ATM):c.192del (p.Leu64fs)
|
rs878853490
|
|
NM_000051.4(ATM):c.193C>T (p.Gln65Ter)
|
rs775248597
|
|
NM_000051.4(ATM):c.1945GAA[1] (p.Glu650del)
|
rs1555073166
|
|
NM_000051.4(ATM):c.1972G>A (p.Asp658Asn)
|
rs1343017824
|
|
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys)
|
rs754033733
|
|
NM_000051.4(ATM):c.201_206del (p.Tyr67_Gln69delinsTer)
|
|
|
NM_000051.4(ATM):c.2023_2024del (p.Gln675fs)
|
|
|
NM_000051.4(ATM):c.2042C>G (p.Ser681Cys)
|
rs1060501585
|
|
NM_000051.4(ATM):c.2048A>T (p.His683Leu)
|
|
|
NM_000051.4(ATM):c.2062G>T (p.Glu688Ter)
|
rs769338089
|
|
NM_000051.4(ATM):c.2066C>G (p.Ser689Ter)
|
|
|
NM_000051.4(ATM):c.2095G>C (p.Glu699Gln)
|
rs1060501539
|
|
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter)
|
rs786202743
|
|
NM_000051.4(ATM):c.2101C>T (p.Leu701Phe)
|
|
|
NM_000051.4(ATM):c.2113del (p.Tyr705fs)
|
rs863224822
|
|
NM_000051.4(ATM):c.2117C>G (p.Ser706Ter)
|
|
|
NM_000051.4(ATM):c.2125-1G>T
|
rs1402299151
|
|
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln)
|
rs768874297
|
|
NM_000051.4(ATM):c.2158C>T (p.Arg720Cys)
|
rs565622131
|
|
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter)
|
rs1478081526
|
|
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter)
|
rs2229019
|
|
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer)
|
rs1555074976
|
|
NM_000051.4(ATM):c.2242A>G (p.Lys748Glu)
|
|
|
NM_000051.4(ATM):c.2250+2T>C
|
rs1555075037
|
|
NM_000051.4(ATM):c.2251-4A>G
|
rs786202935
|
|
NM_000051.4(ATM):c.2254C>G (p.Leu752Val)
|
rs756522395
|
|
NM_000051.4(ATM):c.2264G>A (p.Cys755Tyr)
|
rs876660916
|
|
NM_000051.4(ATM):c.2270G>T (p.Gly757Val)
|
rs375091571
|
|
NM_000051.4(ATM):c.2276G>A (p.Ser759Asn)
|
rs786202270
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
NM_000051.4(ATM):c.2352_2353del (p.Arg785fs)
|
|
|
NM_000051.4(ATM):c.2376+1G>A
|
rs730881347
|
|
NM_000051.4(ATM):c.2377-2A>G
|
rs1057516553
|
|
NM_000051.4(ATM):c.2377-7A>G
|
rs2080691600
|
|
NM_000051.4(ATM):c.237del (p.Lys79fs)
|
rs730881303
|
|
NM_000051.4(ATM):c.2383C>A (p.Pro795Thr)
|
|
|
NM_000051.4(ATM):c.2383C>T (p.Pro795Ser)
|
rs1060501651
|
|
NM_000051.4(ATM):c.2386A>C (p.Asn796His)
|
rs201793499
|
|
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs)
|
rs2135421164
|
|
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)
|
rs730881348
|
|
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
|
|
|
NM_000051.4(ATM):c.2443A>G (p.Ile815Val)
|
rs746090916
|
|
NM_000051.4(ATM):c.2446_2447delinsCT (p.Ala816Leu)
|
rs587781956
|
|
NM_000051.4(ATM):c.2456del (p.Cys819fs)
|
rs2135422280
|
|
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg)
|
rs864622412
|
|
NM_000051.4(ATM):c.2466+1G>A
|
rs914092098
|
|
NM_000051.4(ATM):c.2466+1del
|
rs786202783
|
|
NM_000051.4(ATM):c.2467-1G>A
|
rs1328985852
|
|
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.2521G>A (p.Asp841Asn)
|
|
|
NM_000051.4(ATM):c.2524dup (p.Thr842fs)
|
rs1555082160
|
|
NM_000051.4(ATM):c.2530G>A (p.Gly844Arg)
|
|
|
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu)
|
rs587781808
|
|
NM_000051.4(ATM):c.2545G>T (p.Val849Leu)
|
rs1591587875
|
|
NM_000051.4(ATM):c.2553T>G (p.Asp851Glu)
|
rs1064793513
|
|
NM_000051.4(ATM):c.2561_2564dup (p.Met855fs)
|
|
|
NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter)
|
rs886039633
|
|
NM_000051.4(ATM):c.2606C>T (p.Ala869Val)
|
rs145513717
|
|
NM_000051.4(ATM):c.2620G>T (p.Glu874Ter)
|
rs1565416901
|
|
NM_000051.4(ATM):c.2627A>G (p.Gln876Arg)
|
rs1555082348
|
|
NM_000051.4(ATM):c.2638+2T>C
|
rs587779826
|
|
NM_000051.4(ATM):c.2667T>A (p.Tyr889Ter)
|
rs2081381578
|
|
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter)
|
rs876660780
|
|
NM_000051.4(ATM):c.2677C>T (p.Gln893Ter)
|
rs1555083131
|
|
NM_000051.4(ATM):c.2681A>T (p.Asp894Val)
|
rs113482790
|
|
NM_000051.4(ATM):c.2704A>G (p.Lys902Glu)
|
rs2135524412
|
|
NM_000051.4(ATM):c.2719dup (p.Cys907fs)
|
|
|
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer)
|
rs786202695
|
|
NM_000051.4(ATM):c.2722G>A (p.Val908Ile)
|
rs1190648236
|
|
NM_000051.4(ATM):c.2725A>G (p.Thr909Ala)
|
|
|
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs)
|
rs1064794437
|
|
NM_000051.4(ATM):c.2731G>T (p.Ala911Ser)
|
rs1591594169
|
|
NM_000051.4(ATM):c.274A>G (p.Lys92Glu)
|
rs756969590
|
|
NM_000051.4(ATM):c.2771G>T (p.Arg924Leu)
|
rs587782298
|
|
NM_000051.4(ATM):c.2773A>G (p.Arg925Gly)
|
|
|
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)
|
rs786203309
|
|
NM_000051.4(ATM):c.2791A>G (p.Ile931Val)
|
rs1308253602
|
|
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)
|
rs757237504
|
|
NM_000051.4(ATM):c.2819A>C (p.Lys940Thr)
|
rs762078586
|
|
NM_000051.4(ATM):c.2819A>T (p.Lys940Ile)
|
rs762078586
|
|
NM_000051.4(ATM):c.2829_2838+16delinsA
|
rs1565420196
|
|
NM_000051.4(ATM):c.2838+1G>T
|
rs1555083469
|
|
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.2858A>G (p.Glu953Gly)
|
|
|
NM_000051.4(ATM):c.289del (p.Ile97fs)
|
rs878853497
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
NM_000051.4(ATM):c.2921+1G>C
|
rs587781558
|
|
NM_000051.4(ATM):c.2921+1G>T
|
rs587781558
|
|
NM_000051.4(ATM):c.2921+2dup
|
rs1565424654
|
|
NM_000051.4(ATM):c.2922-50_2940del
|
rs1555084832
|
|
NM_000051.4(ATM):c.2928_2931dup (p.Ser978fs)
|
|
|
NM_000051.4(ATM):c.2930G>T (p.Cys977Phe)
|
rs876660628
|
|
NM_000051.4(ATM):c.2937G>T (p.Leu979Phe)
|
rs1166904824
|
|
NM_000051.4(ATM):c.2945G>A (p.Arg982His)
|
rs749471737
|
|
NM_000051.4(ATM):c.2950C>G (p.Gln984Glu)
|
rs2135552016
|
|
NM_000051.4(ATM):c.2978A>G (p.His993Arg)
|
rs878853498
|
|
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer)
|
rs1060501600
|
|
NM_000051.4(ATM):c.2999dup (p.Asn1000fs)
|
rs1057516250
|
|
NM_000051.4(ATM):c.299T>A (p.Leu100Ter)
|
rs761936549
|
|
NM_000051.4(ATM):c.3025G>C (p.Glu1009Gln)
|
rs1064794039
|
|
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.3059C>T (p.Thr1020Ile)
|
rs186626274
|
|
NM_000051.4(ATM):c.305A>T (p.Lys102Ile)
|
rs1555055293
|
|
NM_000051.4(ATM):c.3077+1G>C
|
|
|
NM_000051.4(ATM):c.3077+1G>T
|
rs192810283
|
|
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter)
|
rs587782103
|
|
NM_000051.4(ATM):c.3078G>C (p.Trp1026Cys)
|
rs876660869
|
|
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys)
|
rs876660869
|
|
NM_000051.4(ATM):c.3080A>G (p.His1027Arg)
|
rs786204217
|
|
NM_000051.4(ATM):c.3085dup (p.Thr1029fs)
|
rs876658502
|
|
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)
|
rs568461905
|
|
NM_000051.4(ATM):c.3149T>G (p.Leu1050Arg)
|
rs1555085890
|
|
NM_000051.4(ATM):c.3153+1G>A
|
rs2081646501
|
|
NM_000051.4(ATM):c.3153+1G>T
|
rs2081646501
|
|
NM_000051.4(ATM):c.3154-1G>T
|
rs1555085973
|
|
NM_000051.4(ATM):c.3167C>G (p.Ser1056Ter)
|
|
|
NM_000051.4(ATM):c.3206del (p.Pro1069fs)
|
rs1060501677
|
|
NM_000051.4(ATM):c.3218_3227del (p.Val1073fs)
|
|
|
NM_000051.4(ATM):c.323C>G (p.Ala108Gly)
|
rs766951228
|
|
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs)
|
rs1060501587
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
NM_000051.4(ATM):c.3254T>C (p.Val1085Ala)
|
rs1284116426
|
|
NM_000051.4(ATM):c.3257G>A (p.Arg1086His)
|
rs769857066
|
|
NM_000051.4(ATM):c.3260T>C (p.Met1087Thr)
|
rs1460583900
|
|
NM_000051.4(ATM):c.3272_3273del (p.Glu1091fs)
|
rs1565429102
|
|
NM_000051.4(ATM):c.3281del (p.Asn1094fs)
|
rs776516754
|
|
NM_000051.4(ATM):c.3284+4A>G
|
rs1591610423
|
|
NM_000051.4(ATM):c.3292del (p.Gln1098fs)
|
rs1555090075
|
|
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg)
|
rs1060501590
|
|
NM_000051.4(ATM):c.3308A>C (p.Asp1103Ala)
|
rs1555090118
|
|
NM_000051.4(ATM):c.331+1G>A
|
rs1555055356
|
|
NM_000051.4(ATM):c.331+2_331+7del
|
|
|
NM_000051.4(ATM):c.331+5G>A
|
rs752135143
|
|
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter)
|
rs1060501711
|
|
NM_000051.4(ATM):c.3329C>T (p.Ala1110Val)
|
rs1479434069
|
|
NM_000051.4(ATM):c.3334C>T (p.Pro1112Ser)
|
rs876658963
|
|
NM_000051.4(ATM):c.3343C>T (p.Leu1115Phe)
|
rs752339681
|
|
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)
|
rs1057516446
|
|
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile)
|
rs539847847
|
|
NM_000051.4(ATM):c.3356_3357del (p.Ala1119fs)
|
|
|
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)
|
rs587781971
|
|
NM_000051.4(ATM):c.3394A>G (p.Arg1132Gly)
|
rs1591632541
|
|
NM_000051.4(ATM):c.3401T>C (p.Met1134Thr)
|
|
|
NM_000051.4(ATM):c.3402+17T>G
|
|
|
NM_000051.4(ATM):c.3404_3428delinsTTGAATGAAAT (p.Ser1135_Thr1143delinsPheGluTer)
|
rs1591636185
|
|
NM_000051.4(ATM):c.340del (p.Arg114fs)
|
|
|
NM_000051.4(ATM):c.3415G>A (p.Glu1139Lys)
|
rs786203048
|
|
NM_000051.4(ATM):c.3455_3456del (p.Ser1152fs)
|
rs2135666711
|
|
NM_000051.4(ATM):c.3470T>C (p.Leu1157Ser)
|
rs2135667225
|
|
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter)
|
rs1591636613
|
|
NM_000051.4(ATM):c.3510dup (p.Gln1171fs)
|
rs876658899
|
|
NM_000051.4(ATM):c.3515C>T (p.Ala1172Val)
|
rs2082210652
|
|
NM_000051.4(ATM):c.3520_3523del (p.Phe1174fs)
|
rs1394502687
|
|
NM_000051.4(ATM):c.3530G>C (p.Cys1177Ser)
|
rs587782470
|
|
NM_000051.4(ATM):c.3536C>A (p.Ser1179Tyr)
|
|
|
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter)
|
rs1057516981
|
|
NM_000051.4(ATM):c.3548del (p.Asn1183fs)
|
|
|
NM_000051.4(ATM):c.3551del (p.Gly1184fs)
|
|
|
NM_000051.4(ATM):c.3565C>T (p.Leu1189Phe)
|
rs370602633
|
|
NM_000051.4(ATM):c.359T>C (p.Leu120Pro)
|
rs1555059081
|
|
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs)
|
rs1057517129
|
|
NM_000051.4(ATM):c.3605G>C (p.Gly1202Ala)
|
rs1555092285
|
|
NM_000051.4(ATM):c.3609T>A (p.Tyr1203Ter)
|
|
|
NM_000051.4(ATM):c.3623dup (p.Asp1208fs)
|
|
|
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs)
|
rs587782861
|
|
NM_000051.4(ATM):c.3709A>T (p.Ile1237Phe)
|
rs1555092528
|
|
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)
|
rs786201675
|
|
NM_000051.4(ATM):c.3723del (p.Asn1240_Tyr1241insTer)
|
|
|
NM_000051.4(ATM):c.3746+5G>A
|
rs876658419
|
|
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.3764T>A (p.Leu1255Ter)
|
rs2082374257
|
|
NM_000051.4(ATM):c.3772C>A (p.His1258Asn)
|
rs587782741
|
|
NM_000051.4(ATM):c.3785G>T (p.Arg1262Ile)
|
rs786203618
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
NM_000051.4(ATM):c.382del (p.Thr127_Val128insTer)
|
rs2135122447
|
|
NM_000051.4(ATM):c.3841A>C (p.Ser1281Arg)
|
|
|
NM_000051.4(ATM):c.3841del (p.Ser1281fs)
|
rs886039621
|
|
NM_000051.4(ATM):c.3843T>G (p.Ser1281Arg)
|
rs863224565
|
|
NM_000051.4(ATM):c.3844C>A (p.Leu1282Ile)
|
rs876660568
|
|
NM_000051.4(ATM):c.387del (p.Asp130fs)
|
rs745642834
|
|
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.3925_3926insATGA (p.Ala1309fs)
|
|
|
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.394T>C (p.Ser132Pro)
|
rs786203851
|
|
NM_000051.4(ATM):c.3952G>C (p.Val1318Leu)
|
|
|
NM_000051.4(ATM):c.3952del (p.Val1318fs)
|
rs1591646354
|
|
NM_000051.4(ATM):c.395C>G (p.Ser132Cys)
|
rs750969764
|
|
NM_000051.4(ATM):c.3964C>T (p.Leu1322Phe)
|
rs144535256
|
|
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter)
|
rs587782192
|
|
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe)
|
rs1064794874
|
|
NM_000051.4(ATM):c.3993+1G>T
|
rs200196781
|
|
NM_000051.4(ATM):c.3993G>C (p.Gln1331His)
|
rs863224566
|
|
NM_000051.4(ATM):c.3994-1G>T
|
rs1057516238
|
|
NM_000051.4(ATM):c.4000_4006del (p.His1334fs)
|
rs2135735093
|
|
NM_000051.4(ATM):c.4006T>C (p.Phe1336Leu)
|
rs1565452452
|
|
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)
|
rs1057517140
|
|
NM_000051.4(ATM):c.4088C>T (p.Thr1363Ile)
|
|
|
NM_000051.4(ATM):c.4095_4096del (p.Leu1365_Cys1366insTer)
|
rs1555096057
|
|
NM_000051.4(ATM):c.4106C>G (p.Ser1369Ter)
|
|
|
NM_000051.4(ATM):c.4109+1G>T
|
rs879254034
|
|
NM_000051.4(ATM):c.4110-1G>A
|
rs1060501692
|
|
NM_000051.4(ATM):c.4110-1G>C
|
rs1060501692
|
|
NM_000051.4(ATM):c.4110-9C>G
|
rs730881367
|
|
NM_000051.4(ATM):c.4111del
|
rs797045114
|
|
NM_000051.4(ATM):c.4143dup (p.Pro1382fs)
|
rs730881309
|
|
NM_000051.4(ATM):c.4150C>T (p.His1384Tyr)
|
rs876660576
|
|
NM_000051.4(ATM):c.4159A>T (p.Lys1387Ter)
|
|
|
NM_000051.4(ATM):c.4161dup (p.Ala1388fs)
|
|
|
NM_000051.4(ATM):c.4163C>G (p.Ala1388Gly)
|
rs1555096908
|
|
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser)
|
rs786203761
|
|
NM_000051.4(ATM):c.4207A>G (p.Ser1403Gly)
|
rs768726324
|
|
NM_000051.4(ATM):c.4219del (p.Ile1407fs)
|
|
|
NM_000051.4(ATM):c.4231_4232del (p.Ser1411fs)
|
|
|
NM_000051.4(ATM):c.4236+2_4236+3dup
|
|
|
NM_000051.4(ATM):c.4236del (p.Asp1413fs)
|
rs1565455297
|
|
NM_000051.4(ATM):c.4242del (p.Tyr1415fs)
|
|
|
NM_000051.4(ATM):c.4255CTT[1] (p.Leu1420del)
|
rs876659842
|
|
NM_000051.4(ATM):c.4264A>G (p.Ile1422Val)
|
rs562445932
|
|
NM_000051.4(ATM):c.4265T>C (p.Ile1422Thr)
|
rs876659764
|
|
NM_000051.4(ATM):c.4267T>A (p.Cys1423Ser)
|
rs587782442
|
|
NM_000051.4(ATM):c.4301A>G (p.Lys1434Arg)
|
|
|
NM_000051.4(ATM):c.4321A>G (p.Ile1441Val)
|
rs774886013
|
|
NM_000051.4(ATM):c.4327C>T (p.His1443Tyr)
|
rs1555097538
|
|
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr)
|
rs587782126
|
|
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)
|
rs1555097650
|
|
NM_000051.4(ATM):c.4361A>G (p.Lys1454Arg)
|
rs1451928082
|
|
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)
|
rs373226793
|
|
NM_000051.4(ATM):c.4373del (p.Gly1458fs)
|
rs587781653
|
|
NM_000051.4(ATM):c.4378G>T (p.Ala1460Ser)
|
rs1060501675
|
|
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)
|
rs730881391
|
|
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)
|
rs730881369
|
|
NM_000051.4(ATM):c.4397G>A (p.Arg1466Gln)
|
rs749770110
|
|
NM_000051.4(ATM):c.4397G>C (p.Arg1466Pro)
|
rs749770110
|
|
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer)
|
rs771887195
|
|
NM_000051.4(ATM):c.4400A>G (p.Asp1467Gly)
|
rs730881392
|
|
NM_000051.4(ATM):c.4414_4423del (p.Leu1472fs)
|
|
|
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter)
|
rs1368412801
|
|
NM_000051.4(ATM):c.4439CTT[1] (p.Ser1481del)
|
rs786202338
|
|
NM_000051.4(ATM):c.445A>T (p.Ile149Phe)
|
rs1565357194
|
|
NM_000051.4(ATM):c.4475C>G (p.Ser1492Cys)
|
|
|
NM_000051.4(ATM):c.4486G>C (p.Asp1496His)
|
|
|
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
|
|
|
NM_000051.4(ATM):c.4517T>C (p.Val1506Ala)
|
rs1555099878
|
|
NM_000051.4(ATM):c.4555G>C (p.Val1519Leu)
|
rs969120822
|
|
NM_000051.4(ATM):c.4579C>G (p.Leu1527Val)
|
rs1555099997
|
|
NM_000051.4(ATM):c.4586A>G (p.Tyr1529Cys)
|
rs1365089723
|
|
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)
|
rs2082872908
|
|
NM_000051.4(ATM):c.4594del (p.Val1532fs)
|
|
|
NM_000051.4(ATM):c.4611+3A>G
|
rs2082874444
|
|
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.4639A>G (p.Ile1547Val)
|
rs537377433
|
|
NM_000051.4(ATM):c.4661del (p.Asn1554fs)
|
rs1064793390
|
|
NM_000051.4(ATM):c.4664T>C (p.Leu1555Pro)
|
rs1060501524
|
|
NM_000051.4(ATM):c.467G>C (p.Trp156Ser)
|
rs876658159
|
|
NM_000051.4(ATM):c.4699G>A (p.Asp1567Asn)
|
rs876659069
|
|
NM_000051.4(ATM):c.4707dup (p.Val1570fs)
|
|
|
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter)
|
rs746499337
|
|
NM_000051.4(ATM):c.4776+1G>T
|
rs771117943
|
|
NM_000051.4(ATM):c.4776+2T>C
|
rs587781927
|
|
NM_000051.4(ATM):c.4776+2_4776+13del
|
rs762838462
|
|
NM_000051.4(ATM):c.4777G>T (p.Glu1593Ter)
|
|
|
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser)
|
rs777812804
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)
|
rs864622290
|
|
NM_000051.4(ATM):c.4807T>C (p.Tyr1603His)
|
rs994121421
|
|
NM_000051.4(ATM):c.4842_4843insCT (p.Lys1615fs)
|
rs753011366
|
|
NM_000051.4(ATM):c.484C>T (p.Gln162Ter)
|
rs1565357383
|
|
NM_000051.4(ATM):c.4858C>G (p.Gln1620Glu)
|
|
|
NM_000051.4(ATM):c.4873A>G (p.Lys1625Glu)
|
rs1060501693
|
|
NM_000051.4(ATM):c.487C>T (p.Gln163Ter)
|
rs1591475608
|
|
NM_000051.4(ATM):c.4909+5T>C
|
rs2083048367
|
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
|
NM_000051.4(ATM):c.4938del (p.Lys1646fs)
|
rs587781754
|
|
NM_000051.4(ATM):c.496+5G>A
|
rs796051858
|
|
NM_000051.4(ATM):c.496G>T (p.Glu166Ter)
|
rs1565357473
|
|
NM_000051.4(ATM):c.497-1G>T
|
rs778624615
|
|
NM_000051.4(ATM):c.4975_4982dup (p.His1661delinsGlnTer)
|
|
|
NM_000051.4(ATM):c.4980C>A (p.Asn1660Lys)
|
rs144338238
|
|
NM_000051.4(ATM):c.4985C>T (p.Thr1662Ile)
|
rs1591692969
|
|
NM_000051.4(ATM):c.4987G>A (p.Gly1663Ser)
|
rs1346404008
|
|
NM_000051.4(ATM):c.498A>T (p.Glu166Asp)
|
rs587779842
|
|
NM_000051.4(ATM):c.5005+1G>A
|
rs1057517427
|
|
NM_000051.4(ATM):c.5005+86T>A
|
|
|
NM_000051.4(ATM):c.5006-12T>G
|
rs2083315314
|
|
NM_000051.4(ATM):c.5015del (p.Gly1672fs)
|
rs864622662
|
|
NM_000051.4(ATM):c.5022C>G (p.Cys1674Trp)
|
rs2083319473
|
|
NM_000051.4(ATM):c.5053A>G (p.Thr1685Ala)
|
rs879254205
|
|
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val)
|
rs766053182
|
|
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter)
|
rs1555104609
|
|
NM_000051.4(ATM):c.5108T>C (p.Phe1703Ser)
|
rs772376652
|
|
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)
|
rs786201693
|
|
NM_000051.4(ATM):c.5148dup (p.Tyr1717fs)
|
|
|
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser)
|
rs183531638
|
|
NM_000051.4(ATM):c.5169AGA[1] (p.Glu1724del)
|
|
|
NM_000051.4(ATM):c.5177+3_5177+6del
|
|
|
NM_000051.4(ATM):c.5177+5G>A
|
rs759373136
|
|
NM_000051.4(ATM):c.5178-2A>G
|
rs2135911500
|
|
NM_000051.4(ATM):c.5178-3del
|
rs1555105575
|
|
NM_000051.4(ATM):c.5179G>A (p.Val1727Ile)
|
rs1064793458
|
|
NM_000051.4(ATM):c.5184dup (p.Val1729fs)
|
rs1555105588
|
|
NM_000051.4(ATM):c.5197G>A (p.Ala1733Thr)
|
rs1591708460
|
|
NM_000051.4(ATM):c.5223A>T (p.Leu1741Phe)
|
rs1591708658
|
|
NM_000051.4(ATM):c.5267C>G (p.Thr1756Arg)
|
rs786203369
|
|
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter)
|
rs1555105786
|
|
NM_000051.4(ATM):c.5300T>G (p.Phe1767Cys)
|
rs864622125
|
|
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter)
|
rs121434223
|
|
NM_000051.4(ATM):c.5318del (p.Lys1773fs)
|
rs876660289
|
|
NM_000051.4(ATM):c.5319+2T>C
|
rs1555105842
|
|
NM_000051.4(ATM):c.5320-5_5320-2del
|
rs730881310
|
|
NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs)
|
rs2135927504
|
|
NM_000051.4(ATM):c.5357_5358del (p.Pro1785_Phe1786insTer)
|
|
|
NM_000051.4(ATM):c.538C>A (p.Gln180Lys)
|
rs730881333
|
|
NM_000051.4(ATM):c.5395A>G (p.Ser1799Gly)
|
rs2083501896
|
|
NM_000051.4(ATM):c.5396del (p.Ser1799fs)
|
rs587782812
|
|
NM_000051.4(ATM):c.5405A>T (p.His1802Leu)
|
rs878853521
|
|
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer)
|
rs879254041
|
|
NM_000051.4(ATM):c.5460del (p.Lys1820fs)
|
|
|
NM_000051.4(ATM):c.5473C>A (p.Gln1825Lys)
|
rs1555106553
|
|
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.5511_5512del (p.Phe1837fs)
|
rs1555107263
|
|
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)
|
rs786204751
|
|
NM_000051.4(ATM):c.5525T>C (p.Leu1842Pro)
|
|
|
NM_000051.4(ATM):c.5531A>G (p.Tyr1844Cys)
|
rs876658907
|
|
NM_000051.4(ATM):c.5543A>G (p.Asp1848Gly)
|
rs1555107329
|
|
NM_000051.4(ATM):c.5549del (p.Leu1850fs)
|
rs876658287
|
|
NM_000051.4(ATM):c.5554C>A (p.Gln1852Lys)
|
rs754562056
|
|
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)
|
rs754562056
|
|
NM_000051.4(ATM):c.5564A>G (p.Asn1855Ser)
|
rs1565481878
|
|
NM_000051.4(ATM):c.5624G>A (p.Arg1875Gln)
|
rs762304746
|
|
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs)
|
rs758852420
|
|
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs)
|
rs1591718522
|
|
NM_000051.4(ATM):c.565A>G (p.Arg189Gly)
|
rs2079701086
|
|
NM_000051.4(ATM):c.5683C>A (p.His1895Asn)
|
rs766901049
|
|
NM_000051.4(ATM):c.5699_5700del (p.Cys1900fs)
|
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter)
|
rs2135976898
|
|
NM_000051.4(ATM):c.5762+1G>A
|
rs869312756
|
|
NM_000051.4(ATM):c.5762+1G>T
|
rs869312756
|
|
NM_000051.4(ATM):c.5763-2A>T
|
rs876659489
|
|
NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter)
|
rs876658831
|
|
NM_000051.4(ATM):c.578C>T (p.Ala193Val)
|
rs1064793928
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
NM_000051.4(ATM):c.5809_5813del (p.Asn1937fs)
|
|
|
NM_000051.4(ATM):c.5812T>A (p.Tyr1938Asn)
|
rs786203668
|
|
NM_000051.4(ATM):c.5830G>C (p.Val1944Leu)
|
rs1555110379
|
|
NM_000051.4(ATM):c.5870A>G (p.Tyr1957Cys)
|
rs1591746364
|
|
NM_000051.4(ATM):c.5876A>T (p.Glu1959Val)
|
|
|
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.5895A>T (p.Lys1965Asn)
|
rs1565490147
|
|
NM_000051.4(ATM):c.5896del (p.Ser1966fs)
|
|
|
NM_000051.4(ATM):c.5909A>G (p.Gln1970Arg)
|
rs1555110568
|
|
NM_000051.4(ATM):c.5910del (p.Glu1971fs)
|
rs587782198
|
|
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys)
|
rs1555110591
|
|
NM_000051.4(ATM):c.5919-2A>G
|
rs746623393
|
|
NM_000051.4(ATM):c.5935G>T (p.Glu1979Ter)
|
rs1555111763
|
|
NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter)
|
rs1555111775
|
|
NM_000051.4(ATM):c.5950A>T (p.Thr1984Ser)
|
rs1060501603
|
|
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)
|
rs786203404
|
|
NM_000051.4(ATM):c.5977dup (p.Ser1993fs)
|
rs1591758642
|
|
NM_000051.4(ATM):c.5978_5981del (p.Ser1993fs)
|
rs2136061889
|
|
NM_000051.4(ATM):c.597T>A (p.Cys199Ter)
|
rs1565369633
|
|
NM_000051.4(ATM):c.5996T>A (p.Ile1999Lys)
|
rs2136063107
|
|
NM_000051.4(ATM):c.6002T>G (p.Leu2001Ter)
|
rs1555111910
|
|
NM_000051.4(ATM):c.6013C>G (p.Leu2005Val)
|
|
|
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)
|
rs1438576066
|
|
NM_000051.4(ATM):c.601C>T (p.Gln201Ter)
|
rs886039666
|
|
NM_000051.4(ATM):c.6040G>C (p.Glu2014Gln)
|
rs375783941
|
|
NM_000051.4(ATM):c.6049dup (p.Ser2017fs)
|
rs797045030
|
|
NM_000051.4(ATM):c.6096-9_6096-5del
|
rs879254095
|
|
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)
|
rs532480170
|
|
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)
|
rs864622251
|
|
NM_000051.4(ATM):c.6128dup (p.Lys2044fs)
|
rs1591778765
|
|
NM_000051.4(ATM):c.6130A>T (p.Lys2044Ter)
|
|
|
NM_000051.4(ATM):c.6133del (p.Ala2045fs)
|
rs1555113762
|
|
NM_000051.4(ATM):c.616A>C (p.Asn206His)
|
rs587781829
|
|
NM_000051.4(ATM):c.6172_6176del (p.Ser2058fs)
|
|
|
NM_000051.4(ATM):c.6173C>G (p.Ser2058Ter)
|
|
|
NM_000051.4(ATM):c.6175A>T (p.Thr2059Ser)
|
|
|
NM_000051.4(ATM):c.6182dup (p.Ala2062fs)
|
|
|
NM_000051.4(ATM):c.6184dup (p.Ala2062fs)
|
rs2136131958
|
|
NM_000051.4(ATM):c.6188G>A (p.Gly2063Glu)
|
rs866290641
|
|
NM_000051.4(ATM):c.6196C>G (p.Gln2066Glu)
|
rs1361215494
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
NM_000051.4(ATM):c.6198+3A>G
|
rs786202092
|
|
NM_000051.4(ATM):c.6199-1G>T
|
rs1591788932
|
|
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.6217C>T (p.Leu2073Phe)
|
rs767406075
|
|
NM_000051.4(ATM):c.6228del (p.Leu2077fs)
|
rs786203008
|
|
NM_000051.4(ATM):c.622A>C (p.Lys208Gln)
|
rs1292617227
|
|
NM_000051.4(ATM):c.6239A>G (p.Tyr2080Cys)
|
rs587779855
|
|
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter)
|
rs1565503182
|
|
NM_000051.4(ATM):c.6293T>C (p.Leu2098Pro)
|
rs587780631
|
|
NM_000051.4(ATM):c.6323A>G (p.Gln2108Arg)
|
rs773891864
|
|
NM_000051.4(ATM):c.6325T>G (p.Trp2109Gly)
|
rs1060501654
|
|
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter)
|
rs587782114
|
|
NM_000051.4(ATM):c.6331_6332del (p.His2111fs)
|
|
|
NM_000051.4(ATM):c.6335G>A (p.Cys2112Tyr)
|
rs1591790360
|
|
NM_000051.4(ATM):c.6348-1G>A
|
rs1057517302
|
|
NM_000051.4(ATM):c.635T>C (p.Phe212Ser)
|
rs1591500544
|
|
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.6371dup (p.Tyr2124Ter)
|
|
|
NM_000051.4(ATM):c.6392C>A (p.Ala2131Asp)
|
rs1060501594
|
|
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter)
|
rs876658163
|
|
NM_000051.4(ATM):c.6400T>C (p.Ser2134Pro)
|
rs758446561
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
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.644A>G (p.Lys215Arg)
|
rs755074633
|
|
NM_000051.4(ATM):c.646G>T (p.Ala216Ser)
|
rs2235002
|
|
NM_000051.4(ATM):c.6482_6483dup (p.Ser2162fs)
|
rs1057516905
|
|
NM_000051.4(ATM):c.6486C>G (p.Ser2162Arg)
|
rs138166710
|
|
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.6572+1G>T
|
rs587779856
|
|
NM_000051.4(ATM):c.6573-12C>A
|
rs1057521666
|
|
NM_000051.4(ATM):c.6575C>G (p.Ser2192Ter)
|
rs2136306738
|
|
NM_000051.4(ATM):c.6585_6586del (p.His2195fs)
|
rs1555119004
|
|
NM_000051.4(ATM):c.661A>G (p.Arg221Gly)
|
rs2135227474
|
|
NM_000051.4(ATM):c.6622C>T (p.His2208Tyr)
|
rs1060501641
|
|
NM_000051.4(ATM):c.6628C>T (p.Gln2210Ter)
|
|
|
NM_000051.4(ATM):c.663-194A>G
|
|
|
NM_000051.4(ATM):c.6635_6636del (p.Leu2212fs)
|
rs768909644
|
|
NM_000051.4(ATM):c.6641A>G (p.Asp2214Gly)
|
|
|
NM_000051.4(ATM):c.6646G>A (p.Asp2216Asn)
|
rs1482691031
|
|
NM_000051.4(ATM):c.6649T>A (p.Phe2217Ile)
|
|
|
NM_000051.4(ATM):c.664C>T (p.Gln222Ter)
|
rs1555066917
|
|
NM_000051.4(ATM):c.6665del (p.Pro2222fs)
|
|
|
NM_000051.4(ATM):c.666del (p.Glu223fs)
|
rs2135236778
|
|
NM_000051.4(ATM):c.6680G>A (p.Arg2227His)
|
rs879254132
|
|
NM_000051.4(ATM):c.6686T>G (p.Val2229Gly)
|
rs1555119144
|
|
NM_000051.4(ATM):c.6697A>C (p.Ile2233Leu)
|
rs1385625521
|
|
NM_000051.4(ATM):c.6742A>G (p.Lys2248Glu)
|
rs1555119232
|
|
NM_000051.4(ATM):c.6754A>C (p.Thr2252Pro)
|
rs1262434611
|
|
NM_000051.4(ATM):c.6757A>G (p.Lys2253Glu)
|
rs863224578
|
|
NM_000051.4(ATM):c.6758A>C (p.Lys2253Thr)
|
rs786203332
|
|
NM_000051.4(ATM):c.6805C>G (p.Gln2269Glu)
|
rs2085584895
|
|
NM_000051.4(ATM):c.680C>A (p.Ser227Ter)
|
|
|
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)
|
rs1565520117
|
|
NM_000051.4(ATM):c.6824T>C (p.Ile2275Thr)
|
rs1283858462
|
|
NM_000051.4(ATM):c.6829del (p.Gln2277fs)
|
rs2136332132
|
|
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
|
|
|
NM_000051.4(ATM):c.6845A>C (p.Asn2282Thr)
|
|
|
NM_000051.4(ATM):c.6845A>G (p.Asn2282Ser)
|
rs863224579
|
|
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)
|
rs1800061
|
|
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)
|
rs1555119834
|
|
NM_000051.4(ATM):c.6869A>C (p.Glu2290Ala)
|
rs1555119842
|
|
NM_000051.4(ATM):c.6899G>A (p.Trp2300Ter)
|
|
|
NM_000051.4(ATM):c.68G>A (p.Arg23Gln)
|
rs587779858
|
|
NM_000051.4(ATM):c.6900G>C (p.Trp2300Cys)
|
rs1591133875
|
|
NM_000051.4(ATM):c.6902C>A (p.Ala2301Glu)
|
|
|
NM_000051.4(ATM):c.6908dup (p.Glu2304fs)
|
rs773570504
|
|
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)
|
rs878853535
|
|
NM_000051.4(ATM):c.6949A>T (p.Lys2317Ter)
|
|
|
NM_000051.4(ATM):c.6976-2A>C
|
rs587782403
|
|
NM_000051.4(ATM):c.6983C>T (p.Pro2328Leu)
|
rs786202730
|
|
NM_000051.4(ATM):c.6995_6998del (p.Leu2332fs)
|
|
|
NM_000051.4(ATM):c.7000T>C (p.Tyr2334His)
|
rs1064793312
|
|
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.7013T>C (p.Leu2338Pro)
|
rs1555120997
|
|
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs)
|
rs1591142418
|
|
NM_000051.4(ATM):c.7031G>A (p.Trp2344Ter)
|
|
|
NM_000051.4(ATM):c.703G>A (p.Ala235Thr)
|
rs76379269
|
|
NM_000051.4(ATM):c.7064T>A (p.Val2355Asp)
|
rs1197214197
|
|
NM_000051.4(ATM):c.7071G>A (p.Met2357Ile)
|
rs753951063
|
|
NM_000051.4(ATM):c.7076C>A (p.Thr2359Asn)
|
rs730881314
|
|
NM_000051.4(ATM):c.7081C>A (p.Leu2361Ile)
|
rs1412288141
|
|
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)
|
rs587781672
|
|
NM_000051.4(ATM):c.7151T>C (p.Met2384Thr)
|
rs1215010771
|
|
NM_000051.4(ATM):c.7159_7160insAGCC (p.Phe2387Ter)
|
rs1591150887
|
|
NM_000051.4(ATM):c.7163_7166del (p.Leu2388fs)
|
rs2085980902
|
|
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)
|
rs587779861
|
|
NM_000051.4(ATM):c.7187_7190del (p.Thr2396fs)
|
|
|
NM_000051.4(ATM):c.7193dup (p.Tyr2398Ter)
|
|
|
NM_000051.4(ATM):c.719T>G (p.Leu240Arg)
|
rs876658753
|
|
NM_000051.4(ATM):c.7201A>G (p.Ile2401Val)
|
rs1565526813
|
|
NM_000051.4(ATM):c.7202T>C (p.Ile2401Thr)
|
rs1555122117
|
|
NM_000051.4(ATM):c.7202T>G (p.Ile2401Ser)
|
|
|
NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter)
|
rs1555122149
|
|
NM_000051.4(ATM):c.7229T>C (p.Phe2410Ser)
|
rs758351633
|
|
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)
|
rs786203311
|
|
NM_000051.4(ATM):c.7265A>G (p.Glu2422Gly)
|
rs758614348
|
|
NM_000051.4(ATM):c.7298A>T (p.Gln2433Leu)
|
rs1591152450
|
|
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs)
|
rs886039628
|
|
NM_000051.4(ATM):c.73-1G>A
|
rs1555054043
|
|
NM_000051.4(ATM):c.7307+1G>A
|
rs2086003529
|
|
NM_000051.4(ATM):c.7308-1G>C
|
rs1555122941
|
|
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)
|
rs763470424
|
|
NM_000051.4(ATM):c.7326G>T (p.Gln2442His)
|
rs1555122970
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.7337A>G (p.Glu2446Gly)
|
rs1555122998
|
|
NM_000051.4(ATM):c.7342G>A (p.Asp2448Asn)
|
rs1591160022
|
|
NM_000051.4(ATM):c.7373A>T (p.Asp2458Val)
|
rs879254201
|
|
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly)
|
rs730881383
|
|
NM_000051.4(ATM):c.737A>G (p.Asn246Ser)
|
rs781023264
|
|
NM_000051.4(ATM):c.7403A>C (p.Glu2468Ala)
|
|
|
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)
|
rs876659365
|
|
NM_000051.4(ATM):c.7417del (p.Cys2473fs)
|
rs2086125359
|
|
NM_000051.4(ATM):c.743G>A (p.Arg248Gln)
|
rs769166447
|
|
NM_000051.4(ATM):c.743G>T (p.Arg248Leu)
|
rs769166447
|
|
NM_000051.4(ATM):c.7445T>C (p.Met2482Thr)
|
rs1555123191
|
|
NM_000051.4(ATM):c.7473G>A (p.Trp2491Ter)
|
|
|
NM_000051.4(ATM):c.7478A>G (p.Glu2493Gly)
|
|
|
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)
|
rs772821016
|
|
NM_000051.4(ATM):c.7517_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.7519G>C (p.Asp2507His)
|
rs2136491059
|
|
NM_000051.4(ATM):c.7537A>G (p.Thr2513Ala)
|
rs1480066803
|
|
NM_000051.4(ATM):c.7588A>T (p.Lys2530Ter)
|
|
|
NM_000051.4(ATM):c.75_78del
|
rs1565344409
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000051.4(ATM):c.7630-1G>A
|
rs2086285148
|
|
NM_000051.4(ATM):c.7630C>G (p.Leu2544Val)
|
rs1555124455
|
|
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.7671_7674del (p.Phe2558fs)
|
rs1555124506
|
|
NM_000051.4(ATM):c.7694dup (p.Asn2565fs)
|
rs1591171790
|
|
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)
|
rs1060501547
|
|
NM_000051.4(ATM):c.769G>A (p.Glu257Lys)
|
|
|
NM_000051.4(ATM):c.7701C>A (p.Asn2567Lys)
|
|
|
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)
|
rs759965045
|
|
NM_000051.4(ATM):c.7735A>G (p.Arg2579Gly)
|
|
|
NM_000051.4(ATM):c.7743C>G (p.Ser2581Arg)
|
|
|
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter)
|
rs2086308918
|
|
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.7789-3T>G
|
rs864622185
|
|
NM_000051.4(ATM):c.778C>A (p.Pro260Thr)
|
rs863224581
|
|
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)
|
rs138941496
|
|
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs)
|
rs730881293
|
|
NM_000051.4(ATM):c.7858G>C (p.Val2620Leu)
|
rs1427723678
|
|
NM_000051.4(ATM):c.785T>A (p.Leu262Ter)
|
rs864622163
|
|
NM_000051.4(ATM):c.7867C>T (p.Leu2623Phe)
|
rs774118570
|
|
NM_000051.4(ATM):c.7870T>G (p.Cys2624Gly)
|
rs1591178767
|
|
NM_000051.4(ATM):c.7872T>A (p.Cys2624Ter)
|
|
|
NM_000051.4(ATM):c.7874A>C (p.Asp2625Ala)
|
rs876660121
|
|
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>G (p.Leu2630Ter)
|
|
|
NM_000051.4(ATM):c.7904C>G (p.Ala2635Gly)
|
rs754002355
|
|
NM_000051.4(ATM):c.790del (p.Tyr264fs)
|
rs587781978
|
|
NM_000051.4(ATM):c.7914G>A (p.Trp2638Ter)
|
|
|
NM_000051.4(ATM):c.7921C>A (p.Gln2641Lys)
|
|
|
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter)
|
rs769523686
|
|
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)
|
rs863224440
|
|
NM_000051.4(ATM):c.7927+6T>G
|
rs1591179460
|
|
NM_000051.4(ATM):c.7930G>A (p.Gly2644Ser)
|
rs587781897
|
|
NM_000051.4(ATM):c.7930G>C (p.Gly2644Arg)
|
rs587781897
|
|
NM_000051.4(ATM):c.7948G>A (p.Asp2650Asn)
|
rs786202219
|
|
NM_000051.4(ATM):c.7966C>T (p.Leu2656Phe)
|
rs1591184384
|
|
NM_000051.4(ATM):c.7980A>T (p.Glu2660Asp)
|
rs1555126247
|
|
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.7999A>T (p.Met2667Leu)
|
rs34099398
|
|
NM_000051.4(ATM):c.8010+1del
|
rs876659350
|
|
NM_000051.4(ATM):c.8010+2T>G
|
|
|
NM_000051.4(ATM):c.8015A>C (p.Asp2672Ala)
|
rs763161651
|
|
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)
|
rs557012154
|
|
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs)
|
rs587780640
|
|
NM_000051.4(ATM):c.8044A>G (p.Thr2682Ala)
|
rs730881320
|
|
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter)
|
rs1555127102
|
|
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)
|
rs758588019
|
|
NM_000051.4(ATM):c.8106A>G (p.Ile2702Met)
|
rs2086684779
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000051.4(ATM):c.8127del (p.Lys2710fs)
|
rs1591192266
|
|
NM_000051.4(ATM):c.812T>G (p.Leu271Arg)
|
rs1314281091
|
|
NM_000051.4(ATM):c.8136_8142del (p.Arg2712fs)
|
|
|
NM_000051.4(ATM):c.8138G>C (p.Arg2713Thr)
|
rs876659351
|
|
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter)
|
rs1060501695
|
|
NM_000051.4(ATM):c.8146G>A (p.Val2716Ile)
|
rs730881385
|
|
NM_000051.4(ATM):c.8149A>T (p.Lys2717Ter)
|
rs774334667
|
|
NM_000051.4(ATM):c.8152-1G>A
|
rs1398616877
|
|
NM_000051.4(ATM):c.815A>G (p.Asn272Ser)
|
rs1555067189
|
|
NM_000051.4(ATM):c.8162A>T (p.Asp2721Val)
|
rs1555128280
|
|
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)
|
rs587781967
|
|
NM_000051.4(ATM):c.8191G>A (p.Val2731Ile)
|
rs1215175886
|
|
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs)
|
rs1555128432
|
|
NM_000051.4(ATM):c.821C>G (p.Ser274Cys)
|
rs1591504377
|
|
NM_000051.4(ATM):c.8224_8225del (p.Asn2742fs)
|
rs1162534390
|
|
NM_000051.4(ATM):c.8233del (p.Thr2745fs)
|
|
|
NM_000051.4(ATM):c.8234C>G (p.Thr2745Ser)
|
|
|
NM_000051.4(ATM):c.8240dup (p.Arg2748fs)
|
rs1591199097
|
|
NM_000051.4(ATM):c.8252C>G (p.Thr2751Ser)
|
rs2086800136
|
|
NM_000051.4(ATM):c.8253dup (p.Ile2752fs)
|
|
|
NM_000051.4(ATM):c.8258G>T (p.Cys2753Phe)
|
rs1284049490
|
|
NM_000051.4(ATM):c.8268+1G>T
|
rs876658957
|
|
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)
|
rs1555128642
|
|
NM_000051.4(ATM):c.8283_8284del (p.Gln2762fs)
|
rs775899653
|
|
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs)
|
rs879254036
|
|
NM_000051.4(ATM):c.8296G>A (p.Val2766Ile)
|
rs730881322
|
|
NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs)
|
rs786202318
|
|
NM_000051.4(ATM):c.8305del (p.Trp2769fs)
|
|
|
NM_000051.4(ATM):c.8329G>A (p.Gly2777Ser)
|
rs2087823795
|
|
NM_000051.4(ATM):c.8353G>C (p.Asp2785His)
|
|
|
NM_000051.4(ATM):c.8367_8368del (p.Arg2790fs)
|
|
|
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.8376del (p.Arg2792fs)
|
|
|
NM_000051.4(ATM):c.8381del (p.Asn2794fs)
|
rs2136950565
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8395_8404dup (p.Gln2802fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8397del (p.Gln2800fs)
|
rs587781837
|
|
NM_000051.4(ATM):c.8413A>G (p.Met2805Val)
|
|
|
NM_000051.4(ATM):c.8418+5G>A
|
rs1305740166
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8419-2A>C
|
rs1555137917
|
|
NM_000051.4(ATM):c.8419-3_8419-1del
|
|
|
NM_000051.4(ATM):c.8423T>C (p.Val2808Ala)
|
rs1359195708
|
|
NM_000051.4(ATM):c.8432del (p.Lys2811fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8434T>C (p.Ser2812Pro)
|
rs786202372
|
|
NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs)
|
rs767533596
|
|
NM_000051.4(ATM):c.8440del (p.Glu2814fs)
|
rs752526400
|
|
NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter)
|
rs2137026687
|
|
NM_000051.4(ATM):c.845T>A (p.Leu282Ter)
|
|
|
NM_000051.4(ATM):c.8462T>G (p.Met2821Arg)
|
rs1555138065
|
|
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)
|
rs587781363
|
|
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)
|
rs121434216
|
|
NM_000051.4(ATM):c.850C>T (p.Gln284Ter)
|
rs757782702
|
|
NM_000051.4(ATM):c.8524C>T (p.Pro2842Ser)
|
rs876659505
|
|
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)
|
rs1555138291
|
|
NM_000051.4(ATM):c.8556T>G (p.Tyr2852Ter)
|
rs779394254
|
|
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.8575TCT[1] (p.Ser2860del)
|
rs786203976
|
|
NM_000051.4(ATM):c.8584+4A>G
|
rs1555138484
|
|
NM_000051.4(ATM):c.8585-1G>C
|
|
|
NM_000051.4(ATM):c.8655dup (p.Val2886fs)
|
rs753961188
|
|
NM_000051.4(ATM):c.8666A>C (p.Asp2889Ala)
|
|
|
NM_000051.4(ATM):c.866T>A (p.Ile289Asn)
|
|
|
NM_000051.4(ATM):c.8671G>T (p.Gly2891Cys)
|
rs1565567541
|
|
NM_000051.4(ATM):c.8672-3T>G
|
rs1060501550
|
|
NM_000051.4(ATM):c.8672G>T (p.Gly2891Val)
|
rs748192003
|
|
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter)
|
rs1565579084
|
|
NM_000051.4(ATM):c.8692A>G (p.Lys2898Glu)
|
rs2137287369
|
|
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>C (p.Asp2913His)
|
rs756899044
|
|
NM_000051.4(ATM):c.8783G>A (p.Arg2928Lys)
|
rs1555142909
|
|
NM_000051.4(ATM):c.8786+1G>C
|
rs17174393
|
|
NM_000051.4(ATM):c.8787-1G>C
|
rs1591313869
|
|
NM_000051.4(ATM):c.8787-2A>G
|
rs2089688512
|
|
NM_000051.4(ATM):c.8810T>A (p.Val2937Glu)
|
rs587782149
|
|
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs)
|
rs1555143538
|
|
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs)
|
rs786203030
|
|
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs)
|
rs786202547
|
|
NM_000051.4(ATM):c.8837T>G (p.Leu2946Ter)
|
|
|
NM_000051.4(ATM):c.8851-1G>T
|
rs1057516537
|
|
NM_000051.4(ATM):c.8851-4_8852del
|
rs2091196613
|
|
NM_000051.4(ATM):c.8860T>C (p.Tyr2954His)
|
rs371619067
|
|
NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer)
|
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.8895G>C (p.Leu2965Phe)
|
rs200899512
|
|
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)
|
rs1565607653
|
|
NM_000051.4(ATM):c.8919G>C (p.Arg2973Ser)
|
rs786203613
|
|
NM_000051.4(ATM):c.8923G>T (p.Glu2975Ter)
|
rs2091208125
|
|
NM_000051.4(ATM):c.8934_8935del (p.Glu2979fs)
|
rs2137881586
|
|
NM_000051.4(ATM):c.8942A>G (p.His2981Arg)
|
rs750441954
|
|
NM_000051.4(ATM):c.8942del (p.His2981fs)
|
rs786203489
|
|
NM_000051.4(ATM):c.894A>C (p.Gln298His)
|
rs1555067327
|
|
NM_000051.4(ATM):c.8959G>C (p.Asp2987His)
|
rs863224582
|
|
NM_000051.4(ATM):c.8967del (p.Glu2990fs)
|
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000051.4(ATM):c.8988-27C>G
|
|
|
NM_000051.4(ATM):c.8988-2A>G
|
rs786202087
|
|
NM_000051.4(ATM):c.8del (p.Leu3fs)
|
rs879254052
|
|
NM_000051.4(ATM):c.9006C>A (p.Phe3002Leu)
|
rs540172506
|
|
NM_000051.4(ATM):c.901+1G>T
|
rs748840480
|
|
NM_000051.4(ATM):c.902-2A>T
|
rs2079877131
|
|
NM_000051.4(ATM):c.9025G>A (p.Val3009Ile)
|
|
|
NM_000051.4(ATM):c.9039dup (p.Gln3014fs)
|
rs879253972
|
|
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)
|
rs587782847
|
|
NM_000051.4(ATM):c.9073dup (p.Val3025fs)
|
rs2137916728
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
NM_000051.4(ATM):c.9080G>T (p.Ser3027Ile)
|
rs1565609342
|
|
NM_000051.4(ATM):c.9112del (p.Gln3038fs)
|
rs587779878
|
|
NM_000051.4(ATM):c.9113A>T (p.Gln3038Leu)
|
rs1131691391
|
|
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs)
|
rs1555152058
|
|
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)
|
|
|
NM_000051.4(ATM):c.9156G>T (p.Trp3052Cys)
|
rs587781711
|
|
NM_000051.4(ATM):c.9157A>T (p.Lys3053Ter)
|
rs1555152104
|
|
NM_000051.4(ATM):c.9160G>C (p.Ala3054Pro)
|
rs1565609869
|
|
NM_000051.4(ATM):c.9161C>A (p.Ala3054Asp)
|
|
|
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly)
|
rs2091262473
|
|
NM_000051.4(ATM):c.921A>T (p.Lys307Asn)
|
rs1555068322
|
|
NM_000051.4(ATM):c.936A>C (p.Leu312Phe)
|
rs587782257
|
|
NM_000051.4(ATM):c.947_948del (p.Leu315_Tyr316insTer)
|
rs2135265742
|
|
NM_000051.4(ATM):c.95G>T (p.Arg32Leu)
|
rs368161489
|
|
NM_000051.4(ATM):c.970dup (p.Ser324fs)
|
|
|
NM_000051.4(ATM):c.975del (p.His325fs)
|
rs2079883068
|
|
NM_000051.4(ATM):c.976A>G (p.Ile326Val)
|
rs1555068422
|
|
NM_000051.4(ATM):c.977_978del (p.Ile326fs)
|
rs876658832
|
|
NM_000051.4(ATM):c.982A>G (p.Ser328Gly)
|
rs1555068433
|
|
NM_000051.4(ATM):c.984_986del (p.Ser328del)
|
rs876659593
|
|
NM_000051.4(ATM):c.986G>A (p.Arg329Lys)
|
rs776938735
|
|
NM_000051.4(ATM):c.989G>A (p.Gly330Glu)
|
rs762179829
|
|
NM_000051.4:c.919_920insAlu
|
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.3(BRCA2):c.9117+1_9117+2delinsTC
|
rs1566253399
|
|
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)
|
rs80359760
|
|
NM_000059.4(BRCA2):c.-152T>C
|
|
|
NM_000059.4(BRCA2):c.-39-1G>A
|
rs1060499566
|
|
NM_000059.4(BRCA2):c.-39-1_-39del
|
rs758732038
|
|
NM_000059.4(BRCA2):c.-39-2A>G
|
rs1555280053
|
|
NM_000059.4(BRCA2):c.10230C>A (p.Asp3410Glu)
|
rs80358404
|
|
NM_000059.4(BRCA2):c.1029del (p.Lys343fs)
|
rs80359260
|
|
NM_000059.4(BRCA2):c.1045A>T (p.Lys349Ter)
|
|
|
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs)
|
rs80359261
|
|
NM_000059.4(BRCA2):c.1072del (p.Val358fs)
|
rs2137467384
|
|
NM_000059.4(BRCA2):c.1103C>A (p.Ser368Ter)
|
rs80358407
|
|
NM_000059.4(BRCA2):c.1138del (p.Ser380fs)
|
rs80359264
|
|
NM_000059.4(BRCA2):c.1147del (p.Ile383fs)
|
rs80359265
|
|
NM_000059.4(BRCA2):c.1189_1190insTTAG (p.Gln397fs)
|
rs397515635
|
|
NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter)
|
rs80358413
|
|
NM_000059.4(BRCA2):c.1205del (p.Gly402fs)
|
rs397507265
|
|
NM_000059.4(BRCA2):c.1238del (p.Leu413fs)
|
rs80359271
|
|
NM_000059.4(BRCA2):c.1257del (p.Cys419fs)
|
rs80359272
|
|
NM_000059.4(BRCA2):c.1265del (p.Asn422fs)
|
rs80359273
|
|
NM_000059.4(BRCA2):c.126T>A (p.Tyr42Ter)
|
rs886040353
|
|
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)
|
rs80359276
|
|
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)
|
rs80359277
|
|
NM_000059.4(BRCA2):c.1329del (p.Asn444fs)
|
rs869320781
|
|
NM_000059.4(BRCA2):c.137del (p.Pro46fs)
|
rs2072285588
|
|
NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs)
|
rs80359283
|
|
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)
|
rs80358427
|
|
NM_000059.4(BRCA2):c.1405_1406del (p.Arg468_Asp469insTer)
|
rs397507586
|
|
NM_000059.4(BRCA2):c.1408dup (p.Glu470fs)
|
rs80359284
|
|
NM_000059.4(BRCA2):c.1411G>T (p.Glu471Ter)
|
rs80358428
|
|
NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter)
|
rs80358429
|
|
NM_000059.4(BRCA2):c.1423G>T (p.Glu475Ter)
|
rs397507587
|
|
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter)
|
rs80358434
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1496_1497del (p.Gln499fs)
|
rs80359285
|
|
NM_000059.4(BRCA2):c.1571del (p.Met524fs)
|
|
|
NM_000059.4(BRCA2):c.1654del (p.Ser552fs)
|
rs80359297
|
|
NM_000059.4(BRCA2):c.1670T>G (p.Leu557Ter)
|
rs80358452
|
|
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter)
|
rs80358456
|
|
NM_000059.4(BRCA2):c.1705_1706del (p.Gln569fs)
|
rs886040383
|
|
NM_000059.4(BRCA2):c.1748T>A (p.Leu583Ter)
|
rs397507604
|
|
NM_000059.4(BRCA2):c.1754del (p.Lys585fs)
|
rs80359301
|
|
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)
|
rs80359302
|
|
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs)
|
rs80359304
|
|
NM_000059.4(BRCA2):c.1774del (p.Tyr592fs)
|
rs1566224293
|
|
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)
|
rs276174813
|
|
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer)
|
rs587779358
|
|
NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter)
|
rs80358474
|
|
NM_000059.4(BRCA2):c.1842dup (p.Asn615Ter)
|
rs80359312
|
|
NM_000059.4(BRCA2):c.1889del (p.Thr630fs)
|
rs80359315
|
|
NM_000059.4(BRCA2):c.1907C>G (p.Ser636Ter)
|
rs431825288
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
NM_000059.4(BRCA2):c.1910-1G>A
|
rs1566225769
|
|
NM_000059.4(BRCA2):c.1910-2A>C
|
|
|
NM_000059.4(BRCA2):c.191C>T (p.Thr64Ile)
|
rs397507615
|
|
NM_000059.4(BRCA2):c.1921del (p.Ser641fs)
|
|
|
NM_000059.4(BRCA2):c.1929del (p.Arg645fs)
|
rs80359316
|
|
NM_000059.4(BRCA2):c.192_193insATTTT (p.Pro65fs)
|
|
|
NM_000059.4(BRCA2):c.1943del (p.Ser648fs)
|
rs876658660
|
|
NM_000059.4(BRCA2):c.1945C>T (p.Gln649Ter)
|
rs398122735
|
|
NM_000059.4(BRCA2):c.2020G>T (p.Glu674Ter)
|
rs879255439
|
|
NM_000059.4(BRCA2):c.2033_2036del (p.Asn678fs)
|
|
|
NM_000059.4(BRCA2):c.2034_2038del (p.Asn679fs)
|
rs879255440
|
|
NM_000059.4(BRCA2):c.2039_2043del (p.Thr680fs)
|
|
|
NM_000059.4(BRCA2):c.204del (p.Lys68fs)
|
rs80359320
|
|
NM_000059.4(BRCA2):c.205C>A (p.Pro69Thr)
|
rs876658614
|
|
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter)
|
rs878853559
|
|
NM_000059.4(BRCA2):c.2103_2106del (p.Phe701fs)
|
rs80359324
|
|
NM_000059.4(BRCA2):c.2129C>G (p.Ser710Ter)
|
rs886040405
|
|
NM_000059.4(BRCA2):c.2133C>A (p.Cys711Ter)
|
rs535547513
|
|
NM_000059.4(BRCA2):c.215A>C (p.Asn72Thr)
|
|
|
NM_000059.4(BRCA2):c.2212dup (p.Cys738fs)
|
rs80359325
|
|
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)
|
rs80358494
|
|
NM_000059.4(BRCA2):c.2231C>G (p.Ser744Ter)
|
rs397507282
|
|
NM_000059.4(BRCA2):c.2251dup (p.Thr751fs)
|
rs886040416
|
|
NM_000059.4(BRCA2):c.2253_2254del (p.Asp752fs)
|
rs398122744
|
|
NM_000059.4(BRCA2):c.2272del (p.Ser758fs)
|
rs886040420
|
|
NM_000059.4(BRCA2):c.2278_2279del (p.Leu760fs)
|
rs886038071
|
|
NM_000059.4(BRCA2):c.2287del (p.His763fs)
|
rs80359327
|
|
NM_000059.4(BRCA2):c.2309_2313del (p.Ile770fs)
|
rs1593896605
|
|
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)
|
rs80359328
|
|
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)
|
rs587781471
|
|
NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter)
|
rs398122746
|
|
NM_000059.4(BRCA2):c.2376C>A (p.Tyr792Ter)
|
rs80358503
|
|
NM_000059.4(BRCA2):c.2380dup (p.Met794fs)
|
rs730881602
|
|
NM_000059.4(BRCA2):c.238A>C (p.Ile80Leu)
|
|
|
NM_000059.4(BRCA2):c.2390del (p.Lys797fs)
|
|
|
NM_000059.4(BRCA2):c.2402_2420del (p.Asn801fs)
|
rs886040923
|
|
NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter)
|
rs80358504
|
|
NM_000059.4(BRCA2):c.2442del (p.Met815fs)
|
rs397507627
|
|
NM_000059.4(BRCA2):c.2471T>G (p.Leu824Ter)
|
rs397507631
|
|
NM_000059.4(BRCA2):c.2471del (p.Ala823_Leu824insTer)
|
rs886040427
|
|
NM_000059.4(BRCA2):c.2480dup (p.Asn827fs)
|
rs397507286
|
|
NM_000059.4(BRCA2):c.250C>T (p.Gln84Ter)
|
rs80358515
|
|
NM_000059.4(BRCA2):c.2515dup (p.Tyr839fs)
|
|
|
NM_000059.4(BRCA2):c.2517C>A (p.Tyr839Ter)
|
rs80358516
|
|
NM_000059.4(BRCA2):c.2517del (p.Lys838_Tyr839insTer)
|
|
|
NM_000059.4(BRCA2):c.2537C>G (p.Ser846Ter)
|
rs80358518
|
|
NM_000059.4(BRCA2):c.2564_2565del (p.Thr855fs)
|
rs80359334
|
|
NM_000059.4(BRCA2):c.2588dup (p.Asn863fs)
|
rs80359335
|
|
NM_000059.4(BRCA2):c.2603del (p.Thr868fs)
|
rs276174824
|
|
NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter)
|
rs80358523
|
|
NM_000059.4(BRCA2):c.2618dup (p.Thr874fs)
|
rs398122749
|
|
NM_000059.4(BRCA2):c.2623_2624del (p.Val875fs)
|
rs876658928
|
|
NM_000059.4(BRCA2):c.2641G>T (p.Glu881Ter)
|
rs876658648
|
|
NM_000059.4(BRCA2):c.2701del (p.Ala902fs)
|
rs397507637
|
|
NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs)
|
rs786204752
|
|
NM_000059.4(BRCA2):c.2798_2799del (p.Thr933fs)
|
rs80359348
|
|
NM_000059.4(BRCA2):c.2801del (p.Gly934fs)
|
rs2137490061
|
|
NM_000059.4(BRCA2):c.2808del (p.Lys936fs)
|
rs398122753
|
|
NM_000059.4(BRCA2):c.2818C>T (p.Gln940Ter)
|
rs80358532
|
|
NM_000059.4(BRCA2):c.2833_2834insTT (p.Lys945fs)
|
rs80359355
|
|
NM_000059.4(BRCA2):c.2836del (p.Asp946fs)
|
rs80359358
|
|
NM_000059.4(BRCA2):c.2870dup (p.Asn957fs)
|
|
|
NM_000059.4(BRCA2):c.2872del (p.Ser958fs)
|
|
|
NM_000059.4(BRCA2):c.2899_2900del (p.Leu967fs)
|
rs80359361
|
|
NM_000059.4(BRCA2):c.289G>T (p.Glu97Ter)
|
rs397507646
|
|
NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala)
|
rs786203080
|
|
NM_000059.4(BRCA2):c.291_296del (p.Glu97_Leu98del)
|
rs80359362
|
|
NM_000059.4(BRCA2):c.2950G>T (p.Glu984Ter)
|
rs397507648
|
|
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs)
|
rs80359365
|
|
NM_000059.4(BRCA2):c.296A>G (p.Asp99Gly)
|
rs864622276
|
|
NM_000059.4(BRCA2):c.2971_2983del (p.Asn991fs)
|
rs886040456
|
|
NM_000059.4(BRCA2):c.2973del (p.Asn991fs)
|
|
|
NM_000059.4(BRCA2):c.2978G>A (p.Trp993Ter)
|
rs80358543
|
|
NM_000059.4(BRCA2):c.2979G>A (p.Trp993Ter)
|
rs80358544
|
|
NM_000059.4(BRCA2):c.3014_3015dup (p.Gly1006fs)
|
rs397507650
|
|
NM_000059.4(BRCA2):c.3066dup (p.Asn1023Ter)
|
rs886040458
|
|
NM_000059.4(BRCA2):c.3075_3076delinsTT (p.Lys1025_Lys1026delinsAsnTer)
|
rs587779362
|
|
NM_000059.4(BRCA2):c.3106G>T (p.Glu1036Ter)
|
rs1060502449
|
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
rs80358557
|
|
NM_000059.4(BRCA2):c.3116CTA[1] (p.Thr1040del)
|
rs1064795908
|
|
NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter)
|
rs80358561
|
|
NM_000059.4(BRCA2):c.3157_3163del (p.Leu1053fs)
|
rs1593898717
|
|
NM_000059.4(BRCA2):c.316+5G>A
|
rs81002840
|
|
NM_000059.4(BRCA2):c.316+6T>C
|
rs81002900
|
|
NM_000059.4(BRCA2):c.3165_3168del (p.Asn1055fs)
|
rs1566227892
|
|
NM_000059.4(BRCA2):c.3166C>T (p.Gln1056Ter)
|
rs79728106
|
|
NM_000059.4(BRCA2):c.3167_3170del (p.Gln1056fs)
|
rs80359372
|
|
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs)
|
rs80359373
|
|
NM_000059.4(BRCA2):c.3187C>T (p.Gln1063Ter)
|
rs876657678
|
|
NM_000059.4(BRCA2):c.3191C>A (p.Ser1064Ter)
|
rs864622609
|
|
NM_000059.4(BRCA2):c.3195_3198del (p.Asn1066fs)
|
rs80359375
|
|
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs)
|
rs80359377
|
|
NM_000059.4(BRCA2):c.320G>C (p.Arg107Thr)
|
rs1172322930
|
|
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter)
|
rs80358573
|
|
NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs)
|
rs80359382
|
|
NM_000059.4(BRCA2):c.334_335dup (p.Ser112fs)
|
|
|
NM_000059.4(BRCA2):c.3362C>G (p.Ser1121Ter)
|
rs80358579
|
|
NM_000059.4(BRCA2):c.3375del (p.Phe1125fs)
|
|
|
NM_000059.4(BRCA2):c.340C>T (p.His114Tyr)
|
rs587778129
|
|
NM_000059.4(BRCA2):c.3451_3452del (p.Ile1151fs)
|
rs886040475
|
|
NM_000059.4(BRCA2):c.3455T>A (p.Leu1152Ter)
|
rs80358593
|
|
NM_000059.4(BRCA2):c.3455T>G (p.Leu1152Ter)
|
rs80358593
|
|
NM_000059.4(BRCA2):c.3500_3501del (p.Ile1167fs)
|
rs80359387
|
|
NM_000059.4(BRCA2):c.3530_3533del (p.Asp1177fs)
|
rs886040481
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)
|
rs80359391
|
|
NM_000059.4(BRCA2):c.3634_3639del (p.Asn1212_Glu1213del)
|
rs774186567
|
|
NM_000059.4(BRCA2):c.3641dup (p.Phe1216fs)
|
rs397507678
|
|
NM_000059.4(BRCA2):c.3656T>C (p.Phe1219Ser)
|
rs1555283341
|
|
NM_000059.4(BRCA2):c.3689_3690del (p.Ser1230fs)
|
rs869312759
|
|
NM_000059.4(BRCA2):c.3689del (p.Ser1230fs)
|
rs80359398
|
|
NM_000059.4(BRCA2):c.3708dup (p.Ala1237fs)
|
rs34575057
|
|
NM_000059.4(BRCA2):c.3716_3717del (p.Lys1239fs)
|
rs80359401
|
|
NM_000059.4(BRCA2):c.3717del (p.Lys1239fs)
|
rs80359401
|
|
NM_000059.4(BRCA2):c.3720_3721del (p.Leu1240_Phe1241insTer)
|
rs1555283373
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
NM_000059.4(BRCA2):c.3748del (p.Glu1250fs)
|
|
|
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)
|
rs397507683
|
|
NM_000059.4(BRCA2):c.3795T>A (p.Cys1265Ter)
|
|
|
NM_000059.4(BRCA2):c.37G>A (p.Glu13Lys)
|
rs80358622
|
|
NM_000059.4(BRCA2):c.3812C>A (p.Ser1271Ter)
|
rs80358623
|
|
NM_000059.4(BRCA2):c.3812C>G (p.Ser1271Ter)
|
rs80358623
|
|
NM_000059.4(BRCA2):c.3837del (p.Asn1279fs)
|
rs80359404
|
|
NM_000059.4(BRCA2):c.383A>G (p.Asp128Gly)
|
rs80358627
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3860dup (p.Asn1287fs)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs)
|
rs80359412
|
|
NM_000059.4(BRCA2):c.3873del (p.Gln1291fs)
|
rs398122772
|
|
NM_000059.4(BRCA2):c.3933_3943del (p.Asn1312fs)
|
rs1555283478
|
|
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)
|
rs397515636
|
|
NM_000059.4(BRCA2):c.4030_4035delinsC (p.Asn1344fs)
|
rs886040509
|
|
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs)
|
rs80359421
|
|
NM_000059.4(BRCA2):c.4037_4043delinsT (p.Thr1346_Cys1348delinsIle)
|
rs276174841
|
|
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs)
|
rs397507322
|
|
NM_000059.4(BRCA2):c.4068_4086dup (p.Asn1363delinsAlaIleTyrTer)
|
|
|
NM_000059.4(BRCA2):c.407del (p.Asn136fs)
|
rs80359425
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
NM_000059.4(BRCA2):c.4095T>A (p.Cys1365Ter)
|
rs80358658
|
|
NM_000059.4(BRCA2):c.410C>T (p.Ser137Phe)
|
|
|
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)
|
rs80358659
|
|
NM_000059.4(BRCA2):c.4117dup (p.Met1373fs)
|
rs1555283571
|
|
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs)
|
rs397507323
|
|
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)
|
rs80359429
|
|
NM_000059.4(BRCA2):c.4133_4136del (p.Thr1378fs)
|
rs80359430
|
|
NM_000059.4(BRCA2):c.4163_4164delinsA (p.Thr1388fs)
|
rs276174843
|
|
NM_000059.4(BRCA2):c.4211C>G (p.Ser1404Ter)
|
rs41293489
|
|
NM_000059.4(BRCA2):c.4211del (p.Thr1403_Ser1404insTer)
|
rs398122777
|
|
NM_000059.4(BRCA2):c.4218_4221del (p.Lys1406fs)
|
rs80359435
|
|
NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter)
|
rs80358663
|
|
NM_000059.4(BRCA2):c.4223del (p.Gln1408fs)
|
rs397507712
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
NM_000059.4(BRCA2):c.425+2T>C
|
rs876661045
|
|
NM_000059.4(BRCA2):c.425+3A>G
|
rs932657676
|
|
NM_000059.4(BRCA2):c.4257del (p.Asp1420fs)
|
rs1566229958
|
|
NM_000059.4(BRCA2):c.426-2A>G
|
rs398122779
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.4285C>T (p.Gln1429Ter)
|
rs80358665
|
|
NM_000059.4(BRCA2):c.4305_4309del (p.Asn1435fs)
|
rs1566230041
|
|
NM_000059.4(BRCA2):c.4321G>T (p.Glu1441Ter)
|
rs876659758
|
|
NM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter)
|
rs80358670
|
|
NM_000059.4(BRCA2):c.4342_4343del (p.Asn1448fs)
|
|
|
NM_000059.4(BRCA2):c.4366G>T (p.Glu1456Ter)
|
rs876659847
|
|
NM_000059.4(BRCA2):c.437T>C (p.Leu146Pro)
|
rs539929888
|
|
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs)
|
rs80359444
|
|
NM_000059.4(BRCA2):c.439C>T (p.Gln147Ter)
|
rs397507717
|
|
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs)
|
rs397507331
|
|
NM_000059.4(BRCA2):c.4409_4413del (p.Ile1470fs)
|
rs397507718
|
|
NM_000059.4(BRCA2):c.440A>T (p.Gln147Leu)
|
rs80358674
|
|
NM_000059.4(BRCA2):c.4412_4414del (p.Arg1471del)
|
rs886039317
|
|
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs)
|
rs397507333
|
|
NM_000059.4(BRCA2):c.4417_4418del (p.Asn1473fs)
|
rs1593902312
|
|
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs)
|
rs80359448
|
|
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs)
|
rs397507720
|
|
NM_000059.4(BRCA2):c.4470dup (p.Leu1491fs)
|
rs397507334
|
|
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs)
|
rs80359451
|
|
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)
|
rs80359454
|
|
NM_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs)
|
rs863224827
|
|
NM_000059.4(BRCA2):c.4544del (p.Lys1515fs)
|
rs397507725
|
|
NM_000059.4(BRCA2):c.4551_4554del (p.Lys1517fs)
|
rs80359457
|
|
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs)
|
rs80359458
|
|
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs)
|
rs1057517565
|
|
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter)
|
rs80358692
|
|
NM_000059.4(BRCA2):c.4615_4616del (p.Leu1539fs)
|
rs869320783
|
|
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)
|
rs80359459
|
|
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)
|
rs80359460
|
|
NM_000059.4(BRCA2):c.4631dup (p.Asn1544fs)
|
rs80359460
|
|
NM_000059.4(BRCA2):c.4633del (p.Leu1545fs)
|
rs876658654
|
|
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs)
|
rs80359462
|
|
NM_000059.4(BRCA2):c.4647_4650del (p.Lys1549fs)
|
rs397507734
|
|
NM_000059.4(BRCA2):c.4651C>T (p.Gln1551Ter)
|
rs876661062
|
|
NM_000059.4(BRCA2):c.4688G>A (p.Trp1563Ter)
|
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
NM_000059.4(BRCA2):c.4712_4713del (p.Glu1571fs)
|
rs80359464
|
|
NM_000059.4(BRCA2):c.473C>T (p.Ser158Leu)
|
rs80358701
|
|
NM_000059.4(BRCA2):c.4740_4741dup (p.Glu1581fs)
|
rs864622401
|
|
NM_000059.4(BRCA2):c.475+1G>T
|
rs81002797
|
|
NM_000059.4(BRCA2):c.475G>A (p.Val159Met)
|
rs80358702
|
|
NM_000059.4(BRCA2):c.476-2A>G
|
rs81002853
|
|
NM_000059.4(BRCA2):c.476-4_476-1delinsT
|
rs587782880
|
|
NM_000059.4(BRCA2):c.4795AAT[1] (p.Asn1600del)
|
rs276174851
|
|
NM_000059.4(BRCA2):c.4808dup (p.Asn1603fs)
|
rs80359466
|
|
NM_000059.4(BRCA2):c.4821_4823delinsC (p.Glu1608fs)
|
rs587782854
|
|
NM_000059.4(BRCA2):c.4829_4830del (p.Val1610fs)
|
rs80359468
|
|
NM_000059.4(BRCA2):c.4848_4849del (p.Leu1616_Ser1617insTer)
|
rs397507746
|
|
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs)
|
rs80359470
|
|
NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter)
|
rs80358711
|
|
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)
|
rs786203494
|
|
NM_000059.4(BRCA2):c.4936_4937del (p.Glu1646fs)
|
rs431825323
|
|
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)
|
rs80359473
|
|
NM_000059.4(BRCA2):c.4947_4948del (p.Pro1651fs)
|
rs80359474
|
|
NM_000059.4(BRCA2):c.4964dup (p.Tyr1655Ter)
|
rs398122789
|
|
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter)
|
rs80358721
|
|
NM_000059.4(BRCA2):c.4979del (p.Pro1660fs)
|
|
|
NM_000059.4(BRCA2):c.4985C>G (p.Ser1662Ter)
|
rs886040559
|
|
NM_000059.4(BRCA2):c.4987_4990del (p.Val1663fs)
|
rs397507753
|
|
NM_000059.4(BRCA2):c.502C>G (p.Pro168Ala)
|
rs80358726
|
|
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs)
|
rs80359477
|
|
NM_000059.4(BRCA2):c.5042_5043del (p.Val1681fs)
|
rs80359478
|
|
NM_000059.4(BRCA2):c.5047C>T (p.Gln1683Ter)
|
rs1555284044
|
|
NM_000059.4(BRCA2):c.5049_5050insT (p.Thr1684fs)
|
rs1593904263
|
|
NM_000059.4(BRCA2):c.5061del (p.Glu1688fs)
|
rs2137513583
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5083G>T (p.Glu1695Ter)
|
rs938190132
|
|
NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter)
|
rs397507758
|
|
NM_000059.4(BRCA2):c.5116_5119del (p.Asn1706fs)
|
rs276174853
|
|
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer)
|
rs80359484
|
|
NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs)
|
rs276174854
|
|
NM_000059.4(BRCA2):c.5154_5158del (p.Asn1719fs)
|
rs886040570
|
|
NM_000059.4(BRCA2):c.5158dup (p.Ser1720fs)
|
rs80359489
|
|
NM_000059.4(BRCA2):c.5164_5168dup (p.Ile1724fs)
|
rs397507765
|
|
NM_000059.4(BRCA2):c.517-1G>A
|
rs81002849
|
|
NM_000059.4(BRCA2):c.517-2A>G
|
rs81002858
|
|
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg)
|
rs397507768
|
|
NM_000059.4(BRCA2):c.518del (p.Gly173Valfs)
|
rs80359492
|
|
NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs)
|
rs1555284103
|
|
NM_000059.4(BRCA2):c.520C>T (p.Arg174Cys)
|
rs41293469
|
|
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)
|
rs80359493
|
|
NM_000059.4(BRCA2):c.5216dup (p.Tyr1739Ter)
|
rs886040578
|
|
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer)
|
rs80359496
|
|
NM_000059.4(BRCA2):c.5218_5223del (p.Leu1740_Ser1741del)
|
rs397507775
|
|
NM_000059.4(BRCA2):c.5223dup (p.Asn1742Ter)
|
rs1555284120
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.5270_5286del (p.Tyr1757fs)
|
rs80359502
|
|
NM_000059.4(BRCA2):c.5279C>G (p.Ser1760Ter)
|
rs80358751
|
|
NM_000059.4(BRCA2):c.5286_5300del (p.Tyr1762_Lys1767delinsTer)
|
|
|
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)
|
rs80359503
|
|
NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter)
|
rs80358757
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5386_5387del (p.Asp1796fs)
|
rs587782598
|
|
NM_000059.4(BRCA2):c.5404C>T (p.Gln1802Ter)
|
rs80358763
|
|
NM_000059.4(BRCA2):c.5410_5411del (p.Val1804fs)
|
rs80359512
|
|
NM_000059.4(BRCA2):c.5465dup (p.Asn1822fs)
|
rs1555284237
|
|
NM_000059.4(BRCA2):c.5471dup (p.Asn1824fs)
|
rs80359515
|
|
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs)
|
rs80359516
|
|
NM_000059.4(BRCA2):c.5496dup (p.Asn1833Ter)
|
rs786203853
|
|
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs)
|
rs80359519
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
NM_000059.4(BRCA2):c.5583dup (p.Val1862fs)
|
rs397507790
|
|
NM_000059.4(BRCA2):c.5585_5588del (p.Val1862fs)
|
rs80359523
|
|
NM_000059.4(BRCA2):c.5595_5596del (p.Phe1866fs)
|
rs80359524
|
|
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)
|
rs276174859
|
|
NM_000059.4(BRCA2):c.560A>T (p.Glu187Val)
|
rs2072349711
|
|
NM_000059.4(BRCA2):c.5614A>T (p.Lys1872Ter)
|
rs80358783
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs)
|
rs80359526
|
|
NM_000059.4(BRCA2):c.5631del (p.Asn1877fs)
|
rs397507357
|
|
NM_000059.4(BRCA2):c.5633del (p.Asn1878fs)
|
|
|
NM_000059.4(BRCA2):c.5635G>T (p.Glu1879Ter)
|
rs55996097
|
|
NM_000059.4(BRCA2):c.5647A>G (p.Lys1883Glu)
|
|
|
NM_000059.4(BRCA2):c.5656C>T (p.Gln1886Ter)
|
rs80358790
|
|
NM_000059.4(BRCA2):c.5681dup (p.Tyr1894Ter)
|
rs80359527
|
|
NM_000059.4(BRCA2):c.5682C>A (p.Tyr1894Ter)
|
rs41293497
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
NM_000059.4(BRCA2):c.5692del (p.Asp1898fs)
|
rs398122539
|
|
NM_000059.4(BRCA2):c.5699C>G (p.Ser1900Ter)
|
rs397507797
|
|
NM_000059.4(BRCA2):c.5702_5703del (p.Glu1901fs)
|
rs80359528
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.574_575del (p.Met192fs)
|
rs80359533
|
|
NM_000059.4(BRCA2):c.5754_5755del (p.His1918fs)
|
rs397507803
|
|
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr)
|
rs80358805
|
|
NM_000059.4(BRCA2):c.5763dup (p.Ala1922fs)
|
rs80359534
|
|
NM_000059.4(BRCA2):c.5773C>T (p.Gln1925Ter)
|
rs80358806
|
|
NM_000059.4(BRCA2):c.5782G>T (p.Glu1928Ter)
|
rs56253082
|
|
NM_000059.4(BRCA2):c.5796_5797del (p.His1932fs)
|
rs80359537
|
|
NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs)
|
rs80359538
|
|
NM_000059.4(BRCA2):c.581G>C (p.Trp194Ser)
|
rs80358809
|
|
NM_000059.4(BRCA2):c.584C>G (p.Ser195Ter)
|
rs886038053
|
|
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)
|
rs80359543
|
|
NM_000059.4(BRCA2):c.5864C>G (p.Ser1955Ter)
|
rs80358815
|
|
NM_000059.4(BRCA2):c.5881del (p.Ser1961fs)
|
rs2137521963
|
|
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)
|
rs80358824
|
|
NM_000059.4(BRCA2):c.595G>C (p.Ala199Pro)
|
rs376582345
|
|
NM_000059.4(BRCA2):c.595_598del (p.Ala199fs)
|
rs886040622
|
|
NM_000059.4(BRCA2):c.5980C>T (p.Gln1994Ter)
|
rs80358831
|
|
NM_000059.4(BRCA2):c.5991_5995del (p.Arg1997fs)
|
rs1555284490
|
|
NM_000059.4(BRCA2):c.5993_5994del (p.Gln1998fs)
|
rs886038136
|
|
NM_000059.4(BRCA2):c.59A>G (p.Asn20Ser)
|
rs398122544
|
|
NM_000059.4(BRCA2):c.6011_6017del (p.Glu2004fs)
|
rs397507362
|
|
NM_000059.4(BRCA2):c.6014del (p.Asp2005fs)
|
rs2137523279
|
|
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs)
|
rs80359554
|
|
NM_000059.4(BRCA2):c.6025C>T (p.Gln2009Ter)
|
rs80358838
|
|
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)
|
rs80358840
|
|
NM_000059.4(BRCA2):c.6078_6079del (p.Glu2028fs)
|
rs80359557
|
|
NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs)
|
rs80359558
|
|
NM_000059.4(BRCA2):c.6091dup (p.Thr2031fs)
|
rs587782717
|
|
NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter)
|
rs80358851
|
|
NM_000059.4(BRCA2):c.6155C>A (p.Ser2052Ter)
|
rs786202461
|
|
NM_000059.4(BRCA2):c.6206T>G (p.Leu2069Ter)
|
rs80358859
|
|
NM_000059.4(BRCA2):c.6209_6212del (p.Glu2070fs)
|
rs276174866
|
|
NM_000059.4(BRCA2):c.6224_6225del (p.Lys2075fs)
|
|
|
NM_000059.4(BRCA2):c.6232G>T (p.Gly2078Ter)
|
rs1555284605
|
|
NM_000059.4(BRCA2):c.6244del (p.Glu2082fs)
|
rs2072549980
|
|
NM_000059.4(BRCA2):c.6259del (p.Arg2087fs)
|
|
|
NM_000059.4(BRCA2):c.6263del (p.Thr2088fs)
|
rs1064794647
|
|
NM_000059.4(BRCA2):c.6267_6269delinsC (p.Glu2089fs)
|
rs276174868
|
|
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)
|
rs80358871
|
|
NM_000059.4(BRCA2):c.632-2A>G
|
rs397507842
|
|
NM_000059.4(BRCA2):c.632-3_632-2del
|
rs431825341
|
|
NM_000059.4(BRCA2):c.6331_6332del (p.Lys2111fs)
|
rs587781470
|
|
NM_000059.4(BRCA2):c.6333_6337del (p.Arg2112fs)
|
rs397507369
|
|
NM_000059.4(BRCA2):c.6352_6353del (p.Val2118fs)
|
rs80359576
|
|
NM_000059.4(BRCA2):c.635_636del (p.Arg212fs)
|
rs80359575
|
|
NM_000059.4(BRCA2):c.6361_6362del (p.Glu2121fs)
|
rs886038144
|
|
NM_000059.4(BRCA2):c.6367_6370dup (p.Lys2124fs)
|
rs786203430
|
|
NM_000059.4(BRCA2):c.6373del (p.Thr2125fs)
|
rs80359577
|
|
NM_000059.4(BRCA2):c.6373dup (p.Thr2125fs)
|
rs80359577
|
|
NM_000059.4(BRCA2):c.6397dup (p.Ser2133fs)
|
rs431825342
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
NM_000059.4(BRCA2):c.6408_6414del (p.Asn2137fs)
|
rs397507851
|
|
NM_000059.4(BRCA2):c.6410del (p.Asn2137fs)
|
rs886038146
|
|
NM_000059.4(BRCA2):c.6417_6418insT (p.Gly2140fs)
|
|
|
NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del)
|
rs80359588
|
|
NM_000059.4(BRCA2):c.6420_6421insA (p.Gly2141fs)
|
rs397507852
|
|
NM_000059.4(BRCA2):c.6434del (p.Asn2145fs)
|
rs80359587
|
|
NM_000059.4(BRCA2):c.6444dup (p.Ile2149fs)
|
rs80359590
|
|
NM_000059.4(BRCA2):c.6445_6446del (p.Ser2148_Ile2149insTer)
|
rs80359592
|
|
NM_000059.4(BRCA2):c.6446_6447del (p.Ile2149fs)
|
rs876660421
|
|
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs)
|
rs80359593
|
|
NM_000059.4(BRCA2):c.6450dup (p.Val2151fs)
|
rs80359594
|
|
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs)
|
rs80359596
|
|
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs)
|
rs80359598
|
|
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter)
|
rs398122559
|
|
NM_000059.4(BRCA2):c.6509_6510del (p.Lys2170fs)
|
rs80359600
|
|
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=)
|
rs206076
|
|
NM_000059.4(BRCA2):c.6528_6535dup
|
rs1555284738
|
|
NM_000059.4(BRCA2):c.6531_6534del (p.Ile2177fs)
|
rs397507865
|
|
NM_000059.4(BRCA2):c.6531dup (p.His2178fs)
|
rs886040664
|
|
NM_000059.4(BRCA2):c.6535_6536insA (p.Val2179fs)
|
rs80359601
|
|
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs)
|
rs397507373
|
|
NM_000059.4(BRCA2):c.6567_6574del (p.Val2190fs)
|
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)
|
rs80359605
|
|
NM_000059.4(BRCA2):c.6599_6601del (p.Phe2200del)
|
|
|
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer)
|
rs80359607
|
|
NM_000059.4(BRCA2):c.6622_6623del (p.Asn2208fs)
|
|
|
NM_000059.4(BRCA2):c.662_663del (p.Phe221fs)
|
rs80359609
|
|
NM_000059.4(BRCA2):c.6634_6637del (p.Cys2212fs)
|
rs397507871
|
|
NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs)
|
rs80359613
|
|
NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs)
|
rs80359614
|
|
NM_000059.4(BRCA2):c.6644dup (p.Tyr2215Ter)
|
rs80359615
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
NM_000059.4(BRCA2):c.6658G>T (p.Glu2220Ter)
|
|
|
NM_000059.4(BRCA2):c.6681dup (p.Val2228fs)
|
rs1555284790
|
|
NM_000059.4(BRCA2):c.6696del (p.Ala2233fs)
|
rs878853301
|
|
NM_000059.4(BRCA2):c.67+1G>A
|
rs81002796
|
|
NM_000059.4(BRCA2):c.67+225G>A
|
|
|
NM_000059.4(BRCA2):c.6711TGA[1] (p.Asp2238del)
|
rs786202738
|
|
NM_000059.4(BRCA2):c.6715G>T (p.Glu2239Ter)
|
rs276174876
|
|
NM_000059.4(BRCA2):c.6724_6725del (p.Asp2242fs)
|
rs397507375
|
|
NM_000059.4(BRCA2):c.6727_6728insAT (p.Ser2243fs)
|
rs1566235284
|
|
NM_000059.4(BRCA2):c.6757_6758del (p.Leu2253fs)
|
rs80359623
|
|
NM_000059.4(BRCA2):c.6761_6762del (p.Phe2254fs)
|
rs80359624
|
|
NM_000059.4(BRCA2):c.679G>A (p.Ala227Thr)
|
rs398122563
|
|
NM_000059.4(BRCA2):c.681+1G>A
|
rs398122565
|
|
NM_000059.4(BRCA2):c.681+4A>T
|
rs397507884
|
|
NM_000059.4(BRCA2):c.6833_6837del (p.Ile2278fs)
|
rs80359626
|
|
NM_000059.4(BRCA2):c.6863A>T (p.Asn2288Ile)
|
rs398122569
|
|
NM_000059.4(BRCA2):c.6884G>A (p.Arg2295Lys)
|
|
|
NM_000059.4(BRCA2):c.688A>T (p.Lys230Ter)
|
rs80358913
|
|
NM_000059.4(BRCA2):c.6890T>C (p.Ile2297Thr)
|
rs1566236920
|
|
NM_000059.4(BRCA2):c.6907T>C (p.Ser2303Pro)
|
rs1060502494
|
|
NM_000059.4(BRCA2):c.6944_6947del (p.Ile2315fs)
|
rs80359629
|
|
NM_000059.4(BRCA2):c.6952C>G (p.Arg2318Gly)
|
rs80358920
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
NM_000059.4(BRCA2):c.6956G>C (p.Arg2319Thr)
|
rs80358922
|
|
NM_000059.4(BRCA2):c.6972T>G (p.His2324Gln)
|
|
|
NM_000059.4(BRCA2):c.6990_6994del (p.Ile2330fs)
|
rs80359631
|
|
NM_000059.4(BRCA2):c.6995G>A (p.Cys2332Tyr)
|
rs786202536
|
|
NM_000059.4(BRCA2):c.7007+5G>A
|
rs81002816
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7008-2A>G
|
rs81002823
|
|
NM_000059.4(BRCA2):c.7008-2A>T
|
rs81002823
|
|
NM_000059.4(BRCA2):c.7021C>G (p.Arg2341Gly)
|
rs41293505
|
|
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)
|
rs80358928
|
|
NM_000059.4(BRCA2):c.7054C>A (p.Pro2352Thr)
|
rs776714935
|
|
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)
|
rs80359636
|
|
NM_000059.4(BRCA2):c.7082A>G (p.His2361Arg)
|
rs876659579
|
|
NM_000059.4(BRCA2):c.7088A>G (p.Tyr2363Cys)
|
rs80358939
|
|
NM_000059.4(BRCA2):c.7095T>A (p.His2365Gln)
|
rs370708814
|
|
NM_000059.4(BRCA2):c.7125A>T (p.Leu2375Phe)
|
|
|
NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter)
|
rs276174889
|
|
NM_000059.4(BRCA2):c.7142C>A (p.Pro2381Gln)
|
rs746751519
|
|
NM_000059.4(BRCA2):c.7151_7152del (p.Gln2384fs)
|
rs276174890
|
|
NM_000059.4(BRCA2):c.715del (p.Ser239fs)
|
rs431825350
|
|
NM_000059.4(BRCA2):c.7166G>A (p.Arg2389Lys)
|
rs1302207132
|
|
NM_000059.4(BRCA2):c.716del (p.Ser239fs)
|
|
|
NM_000059.4(BRCA2):c.71del (p.Asp23_Leu24insTer)
|
rs397507903
|
|
NM_000059.4(BRCA2):c.7208_7211del (p.Thr2403fs)
|
rs80359641
|
|
NM_000059.4(BRCA2):c.7213G>C (p.Val2405Leu)
|
rs1555286046
|
|
NM_000059.4(BRCA2):c.722del (p.Lys241fs)
|
rs2137461470
|
|
NM_000059.4(BRCA2):c.7234A>C (p.Thr2412Pro)
|
rs876659118
|
|
NM_000059.4(BRCA2):c.7237_7240del (p.Lys2413fs)
|
rs1566241033
|
|
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=)
|
rs1799955
|
|
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs)
|
rs397507907
|
|
NM_000059.4(BRCA2):c.7254_7255del (p.Arg2418fs)
|
rs80359644
|
|
NM_000059.4(BRCA2):c.7284G>T (p.Leu2428Phe)
|
|
|
NM_000059.4(BRCA2):c.729_732del (p.Asn243fs)
|
rs80359645
|
|
NM_000059.4(BRCA2):c.7304A>G (p.Gln2435Arg)
|
rs786202355
|
|
NM_000059.4(BRCA2):c.7343A>G (p.Lys2448Arg)
|
rs431825353
|
|
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter)
|
rs397507912
|
|
NM_000059.4(BRCA2):c.7379_7380insG (p.Asn2460fs)
|
rs80359647
|
|
NM_000059.4(BRCA2):c.7385C>T (p.Ser2462Phe)
|
rs2137558613
|
|
NM_000059.4(BRCA2):c.7409dup (p.Thr2471fs)
|
rs397507915
|
|
NM_000059.4(BRCA2):c.7414_7415del (p.Lys2472fs)
|
rs80359650
|
|
NM_000059.4(BRCA2):c.7419_7420del (p.Cys2473_Glu2474delinsTer)
|
rs80359651
|
|
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)
|
rs876659222
|
|
NM_000059.4(BRCA2):c.7429C>T (p.Pro2477Ser)
|
rs80358964
|
|
NM_000059.4(BRCA2):c.7439T>A (p.Leu2480Ter)
|
|
|
NM_000059.4(BRCA2):c.743C>T (p.Ala248Val)
|
rs276174893
|
|
NM_000059.4(BRCA2):c.7478T>G (p.Met2493Arg)
|
rs863224597
|
|
NM_000059.4(BRCA2):c.7485dup (p.Lys2496Ter)
|
rs886038171
|
|
NM_000059.4(BRCA2):c.748del (p.Ser249_Val250insTer)
|
rs80359654
|
|
NM_000059.4(BRCA2):c.7514C>A (p.Pro2505Gln)
|
|
|
NM_000059.4(BRCA2):c.7525_7526delinsGACT (p.Ser2509fs)
|
|
|
NM_000059.4(BRCA2):c.7543dup (p.Thr2515fs)
|
rs80359657
|
|
NM_000059.4(BRCA2):c.7549A>G (p.Thr2517Ala)
|
rs2072697978
|
|
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs)
|
rs80359659
|
|
NM_000059.4(BRCA2):c.7594C>T (p.Pro2532Ser)
|
rs397507388
|
|
NM_000059.4(BRCA2):c.7595C>A (p.Pro2532His)
|
rs967458408
|
|
NM_000059.4(BRCA2):c.7597T>G (p.Ser2533Ala)
|
rs786204150
|
|
NM_000059.4(BRCA2):c.7609C>T (p.His2537Tyr)
|
rs1555286310
|
|
NM_000059.4(BRCA2):c.7612A>G (p.Lys2538Glu)
|
rs397507921
|
|
NM_000059.4(BRCA2):c.7617+1G>A
|
rs397507922
|
|
NM_000059.4(BRCA2):c.7618-1G>A
|
rs397507389
|
|
NM_000059.4(BRCA2):c.763A>C (p.Asn255His)
|
rs2072386794
|
|
NM_000059.4(BRCA2):c.7645T>G (p.Cys2549Gly)
|
rs2072708250
|
|
NM_000059.4(BRCA2):c.7659del (p.Asn2553fs)
|
|
|
NM_000059.4(BRCA2):c.7673_7674del (p.Glu2558fs)
|
rs80359672
|
|
NM_000059.4(BRCA2):c.7676C>G (p.Ser2559Cys)
|
rs1060502421
|
|
NM_000059.4(BRCA2):c.7679T>C (p.Phe2560Ser)
|
rs376460800
|
|
NM_000059.4(BRCA2):c.7679_7680del (p.Phe2560fs)
|
rs80359673
|
|
NM_000059.4(BRCA2):c.7681C>T (p.Gln2561Ter)
|
rs80358994
|
|
NM_000059.4(BRCA2):c.7684T>A (p.Phe2562Ile)
|
rs80358995
|
|
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys)
|
rs587782715
|
|
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)
|
rs80359671
|
|
NM_000059.4(BRCA2):c.7721G>A (p.Trp2574Ter)
|
rs80358997
|
|
NM_000059.4(BRCA2):c.7722G>A (p.Trp2574Ter)
|
rs1060502433
|
|
NM_000059.4(BRCA2):c.7732G>T (p.Gly2578Ter)
|
rs1593920920
|
|
NM_000059.4(BRCA2):c.774_775del (p.Glu260fs)
|
rs75096777
|
|
NM_000059.4(BRCA2):c.7762_7764delinsTT (p.Ile2588fs)
|
rs483353072
|
|
NM_000059.4(BRCA2):c.7783G>A (p.Ala2595Thr)
|
rs80359007
|
|
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)
|
rs398122591
|
|
NM_000059.4(BRCA2):c.778_779del (p.Glu260fs)
|
rs80359677
|
|
NM_000059.4(BRCA2):c.7792G>T (p.Glu2598Ter)
|
rs1135401919
|
|
NM_000059.4(BRCA2):c.7805+1G>A
|
rs81002809
|
|
NM_000059.4(BRCA2):c.7806-2A>G
|
rs81002836
|
|
NM_000059.4(BRCA2):c.7819A>G (p.Thr2607Ala)
|
rs80359008
|
|
NM_000059.4(BRCA2):c.7820C>T (p.Thr2607Ile)
|
rs1555286821
|
|
NM_000059.4(BRCA2):c.7847del (p.Ser2616fs)
|
rs80359685
|
|
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter)
|
rs80359011
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
NM_000059.4(BRCA2):c.7874G>A (p.Arg2625Lys)
|
rs864622552
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
NM_000059.4(BRCA2):c.7900del (p.Met2634fs)
|
rs1566244864
|
|
NM_000059.4(BRCA2):c.7910C>T (p.Ala2637Val)
|
rs730881561
|
|
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer)
|
rs80359686
|
|
NM_000059.4(BRCA2):c.7915C>G (p.Pro2639Ala)
|
rs80359017
|
|
NM_000059.4(BRCA2):c.7925T>G (p.Phe2642Cys)
|
rs1287337540
|
|
NM_000059.4(BRCA2):c.7933_7943delinsCTATTAGCA (p.Arg2645fs)
|
rs2137577594
|
|
NM_000059.4(BRCA2):c.7934del (p.Arg2645fs)
|
rs80359688
|
|
NM_000059.4(BRCA2):c.793G>A (p.Gly265Arg)
|
rs1403242422
|
|
NM_000059.4(BRCA2):c.794-2A>G
|
rs1566222053
|
|
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)
|
rs80359022
|
|
NM_000059.4(BRCA2):c.7958T>G (p.Leu2653Arg)
|
rs80359022
|
|
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)
|
rs80359024
|
|
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly)
|
rs80359026
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.7977-1G>C
|
rs81002874
|
|
NM_000059.4(BRCA2):c.7977-2A>G
|
rs276174899
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8053dup (p.Thr2685fs)
|
rs397507958
|
|
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter)
|
rs80359046
|
|
NM_000059.4(BRCA2):c.8070_8071dup (p.Ser2691fs)
|
rs397507962
|
|
NM_000059.4(BRCA2):c.8074del (p.Asp2692fs)
|
|
|
NM_000059.4(BRCA2):c.8138C>A (p.Thr2713Asn)
|
rs994319321
|
|
NM_000059.4(BRCA2):c.8140C>G (p.Gln2714Glu)
|
rs80359058
|
|
NM_000059.4(BRCA2):c.8164dup (p.Thr2722fs)
|
rs2137581286
|
|
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)
|
rs80359062
|
|
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly)
|
rs41293513
|
|
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val)
|
rs41293513
|
|
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu)
|
rs1060502432
|
|
NM_000059.4(BRCA2):c.8174_8185delinsTT (p.Trp2725fs)
|
rs730881615
|
|
NM_000059.4(BRCA2):c.8175G>A (p.Trp2725Ter)
|
rs397507965
|
|
NM_000059.4(BRCA2):c.8181del (p.Val2728fs)
|
|
|
NM_000059.4(BRCA2):c.8204C>G (p.Pro2735Arg)
|
rs730881564
|
|
NM_000059.4(BRCA2):c.8206C>G (p.Leu2736Val)
|
rs1555287042
|
|
NM_000059.4(BRCA2):c.8206C>T (p.Leu2736Phe)
|
rs1555287042
|
|
NM_000059.4(BRCA2):c.8213C>G (p.Ala2738Gly)
|
rs1555287046
|
|
NM_000059.4(BRCA2):c.8239G>A (p.Val2747Ile)
|
rs397507398
|
|
NM_000059.4(BRCA2):c.8247_8248del (p.Lys2750fs)
|
rs80359701
|
|
NM_000059.4(BRCA2):c.8253dup (p.Ile2752fs)
|
rs80359704
|
|
NM_000059.4(BRCA2):c.8255TTC[1] (p.Leu2753del)
|
rs397507971
|
|
NM_000059.4(BRCA2):c.8261A>G (p.His2754Arg)
|
rs1555287066
|
|
NM_000059.4(BRCA2):c.8294G>A (p.Cys2765Tyr)
|
rs112343538
|
|
NM_000059.4(BRCA2):c.8303T>A (p.Leu2768His)
|
rs587782732
|
|
NM_000059.4(BRCA2):c.8308del (p.Ala2770fs)
|
rs398122601
|
|
NM_000059.4(BRCA2):c.8317T>C (p.Ser2773Pro)
|
rs143761565
|
|
NM_000059.4(BRCA2):c.8323A>C (p.Met2775Leu)
|
rs767209209
|
|
NM_000059.4(BRCA2):c.8331+1G>A
|
rs81002837
|
|
NM_000059.4(BRCA2):c.8331+2T>C
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8332-2A>G
|
rs587782774
|
|
NM_000059.4(BRCA2):c.8332-3C>G
|
rs587782093
|
|
NM_000059.4(BRCA2):c.8337del (p.Ala2780fs)
|
|
|
NM_000059.4(BRCA2):c.8354C>T (p.Pro2785Leu)
|
rs786202034
|
|
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu)
|
rs80359083
|
|
NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs)
|
rs276174907
|
|
NM_000059.4(BRCA2):c.8396G>A (p.Arg2799Lys)
|
|
|
NM_000059.4(BRCA2):c.8414_8416delinsC (p.Leu2805fs)
|
rs397507402
|
|
NM_000059.4(BRCA2):c.8429G>A (p.Ser2810Asn)
|
rs2072821561
|
|
NM_000059.4(BRCA2):c.842A>G (p.Asp281Gly)
|
rs1555281610
|
|
NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter)
|
rs776353983
|
|
NM_000059.4(BRCA2):c.8484A>G (p.Ile2828Met)
|
rs950154005
|
|
NM_000059.4(BRCA2):c.8487+1G>A
|
rs81002798
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8488-1G>T
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8489G>A (p.Trp2830Ter)
|
rs80359101
|
|
NM_000059.4(BRCA2):c.8491A>T (p.Met2831Leu)
|
rs760663398
|
|
NM_000059.4(BRCA2):c.8498A>C (p.Lys2833Thr)
|
|
|
NM_000059.4(BRCA2):c.8507C>T (p.Ser2836Phe)
|
rs863224599
|
|
NM_000059.4(BRCA2):c.8507_8508dup (p.Gly2837fs)
|
rs2137599900
|
|
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs)
|
rs80359714
|
|
NM_000059.4(BRCA2):c.8548_8551del (p.Glu2850fs)
|
rs397507406
|
|
NM_000059.4(BRCA2):c.8575C>T (p.Gln2859Ter)
|
rs80359115
|
|
NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter)
|
rs1131692035
|
|
NM_000059.4(BRCA2):c.8581A>T (p.Arg2861Ter)
|
rs398122608
|
|
NM_000059.4(BRCA2):c.8591C>T (p.Ala2864Val)
|
rs80359116
|
|
NM_000059.4(BRCA2):c.8594dup (p.Leu2865fs)
|
rs80359721
|
|
NM_000059.4(BRCA2):c.8632+2T>C
|
rs397507998
|
|
NM_000059.4(BRCA2):c.8633-1259A>G
|
|
|
NM_000059.4(BRCA2):c.8633-1G>A
|
rs398122711
|
|
NM_000059.4(BRCA2):c.8633-24_8634del
|
rs886040945
|
|
NM_000059.4(BRCA2):c.8639_8643del (p.Thr2880fs)
|
rs2137612282
|
|
NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs)
|
rs80359724
|
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
rs397507409
|
|
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter)
|
rs397507411
|
|
NM_000059.4(BRCA2):c.8702G>T (p.Gly2901Val)
|
rs80359129
|
|
NM_000059.4(BRCA2):c.8740C>G (p.Pro2914Ala)
|
rs876660226
|
|
NM_000059.4(BRCA2):c.8754+4A>T
|
rs81002893
|
|
NM_000059.4(BRCA2):c.8755-11A>G
|
rs1371032020
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8767G>A (p.Glu2923Lys)
|
rs1334458965
|
|
NM_000059.4(BRCA2):c.8773C>T (p.Gln2925Ter)
|
rs80359134
|
|
NM_000059.4(BRCA2):c.8825C>A (p.Ala2942Asp)
|
rs373227180
|
|
NM_000059.4(BRCA2):c.8839G>T (p.Glu2947Ter)
|
rs398122715
|
|
NM_000059.4(BRCA2):c.8850_8851dup (p.Ala2951fs)
|
rs886040796
|
|
NM_000059.4(BRCA2):c.8863G>A (p.Ala2955Thr)
|
rs1566252676
|
|
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)
|
rs80359140
|
|
NM_000059.4(BRCA2):c.8900_8901del (p.Thr2967fs)
|
rs1593936840
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
NM_000059.4(BRCA2):c.8917del (p.Arg2973fs)
|
|
|
NM_000059.4(BRCA2):c.891_899delinsGATACTTCAG (p.Thr298fs)
|
rs276174914
|
|
NM_000059.4(BRCA2):c.8928C>G (p.Ser2976Arg)
|
rs771267741
|
|
NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter)
|
rs80359144
|
|
NM_000059.4(BRCA2):c.8935A>T (p.Lys2979Ter)
|
rs2072903033
|
|
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys)
|
rs139052578
|
|
NM_000059.4(BRCA2):c.8953+1G>T
|
rs81002882
|
|
NM_000059.4(BRCA2):c.8954-15T>G
|
rs886040948
|
|
NM_000059.4(BRCA2):c.8954-1G>A
|
rs1555288435
|
|
NM_000059.4(BRCA2):c.8954-1_8955delinsAA
|
rs276174916
|
|
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs)
|
rs80359734
|
|
NM_000059.4(BRCA2):c.8969G>A (p.Trp2990Ter)
|
rs80359148
|
|
NM_000059.4(BRCA2):c.8982_8985dup (p.Leu2996fs)
|
rs1555288449
|
|
NM_000059.4(BRCA2):c.8T>C (p.Ile3Thr)
|
rs1555280096
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000059.4(BRCA2):c.9008G>A (p.Gly3003Glu)
|
rs1566253139
|
|
NM_000059.4(BRCA2):c.9010A>G (p.Lys3004Glu)
|
rs954148397
|
|
NM_000059.4(BRCA2):c.9025del (p.Tyr3009fs)
|
rs786203575
|
|
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs)
|
rs80359741
|
|
NM_000059.4(BRCA2):c.9049A>G (p.Lys3017Glu)
|
rs1555288473
|
|
NM_000059.4(BRCA2):c.9052A>G (p.Ser3018Gly)
|
rs431825373
|
|
NM_000059.4(BRCA2):c.906dup (p.Ser303fs)
|
|
|
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)
|
rs80359159
|
|
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro)
|
rs80359161
|
|
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9100C>T (p.Gln3034Ter)
|
rs80359163
|
|
NM_000059.4(BRCA2):c.9102G>T (p.Gln3034His)
|
|
|
NM_000059.4(BRCA2):c.9113dup (p.Pro3039fs)
|
rs2072911261
|
|
NM_000059.4(BRCA2):c.9117+1G>A
|
rs81002802
|
|
NM_000059.4(BRCA2):c.9118-5T>A
|
rs879255299
|
|
NM_000059.4(BRCA2):c.9119T>C (p.Val3040Ala)
|
rs587781606
|
|
NM_000059.4(BRCA2):c.9135A>T (p.Leu3045Phe)
|
|
|
NM_000059.4(BRCA2):c.9147C>G (p.Tyr3049Ter)
|
rs886040823
|
|
NM_000059.4(BRCA2):c.9159G>C (p.Glu3053Asp)
|
rs1289660997
|
|
NM_000059.4(BRCA2):c.9182T>A (p.Leu3061Ter)
|
rs80359175
|
|
NM_000059.4(BRCA2):c.9190G>T (p.Asp3064Tyr)
|
rs80359177
|
|
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)
|
rs80359180
|
|
NM_000059.4(BRCA2):c.9209C>T (p.Ser3070Phe)
|
rs747837583
|
|
NM_000059.4(BRCA2):c.9221dup (p.Ile3075fs)
|
|
|
NM_000059.4(BRCA2):c.9246dup (p.Lys3083fs)
|
rs886038189
|
|
NM_000059.4(BRCA2):c.9252_9253del (p.Lys3084fs)
|
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.9256_9256+1delinsTA
|
rs587781422
|
|
NM_000059.4(BRCA2):c.9257-1G>C
|
rs81002889
|
|
NM_000059.4(BRCA2):c.9257-2A>G
|
rs886040954
|
|
NM_000059.4(BRCA2):c.9258_9262del (p.Leu3087fs)
|
|
|
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)
|
rs80359195
|
|
NM_000059.4(BRCA2):c.9285C>A (p.Asp3095Glu)
|
rs80359198
|
|
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu)
|
rs80359198
|
|
NM_000059.4(BRCA2):c.9290G>A (p.Cys3097Tyr)
|
rs730881570
|
|
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)
|
rs397508045
|
|
NM_000059.4(BRCA2):c.9301C>G (p.Leu3101Val)
|
rs80359202
|
|
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg)
|
rs28897758
|
|
NM_000059.4(BRCA2):c.9325C>T (p.Leu3109Phe)
|
rs1593199703
|
|
NM_000059.4(BRCA2):c.9329dup (p.Asn3110fs)
|
rs1405341259
|
|
NM_000059.4(BRCA2):c.9331_9335delinsCCT (p.Glu3111fs)
|
rs886040831
|
|
NM_000059.4(BRCA2):c.9340A>G (p.Ile3114Val)
|
rs1555289545
|
|
NM_000059.4(BRCA2):c.9349C>T (p.His3117Tyr)
|
rs2073022451
|
|
NM_000059.4(BRCA2):c.9356T>G (p.Leu3119Ter)
|
rs80359207
|
|
NM_000059.4(BRCA2):c.9377A>C (p.Gln3126Pro)
|
rs397507426
|
|
NM_000059.4(BRCA2):c.9377A>G (p.Gln3126Arg)
|
rs397507426
|
|
NM_000059.4(BRCA2):c.9380G>A (p.Trp3127Ter)
|
rs80359211
|
|
NM_000059.4(BRCA2):c.9401G>T (p.Gly3134Val)
|
rs80359215
|
|
NM_000059.4(BRCA2):c.9409dup (p.Thr3137fs)
|
|
|
NM_000059.4(BRCA2):c.9414_9417dup (p.Ala3140fs)
|
|
|
NM_000059.4(BRCA2):c.9430del (p.Ser3144fs)
|
rs80359762
|
|
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
NM_000059.4(BRCA2):c.9458G>T (p.Gly3153Val)
|
rs80359220
|
|
NM_000059.4(BRCA2):c.9461A>G (p.His3154Arg)
|
rs2073024987
|
|
NM_000059.4(BRCA2):c.9490A>G (p.Asn3164Asp)
|
rs876658597
|
|
NM_000059.4(BRCA2):c.9502-1G>C
|
|
|
NM_000059.4(BRCA2):c.9502A>T (p.Asn3168Tyr)
|
|
|
NM_000059.4(BRCA2):c.9513_9515del (p.Leu3172del)
|
rs80359768
|
|
NM_000059.4(BRCA2):c.9542T>G (p.Met3181Arg)
|
rs80359225
|
|
NM_000059.4(BRCA2):c.9565C>G (p.Pro3189Ala)
|
rs772385867
|
|
NM_000059.4(BRCA2):c.9569del (p.Lys3190fs)
|
|
|
NM_000059.4(BRCA2):c.956dup (p.Asn319fs)
|
rs80359770
|
|
NM_000059.4(BRCA2):c.9580_9581del (p.Pro3194fs)
|
rs80359771
|
|
NM_000059.4(BRCA2):c.9581dup (p.Thr3195fs)
|
|
|
NM_000059.4(BRCA2):c.9584_9586delinsAT (p.Thr3195fs)
|
rs2073041280
|
|
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter)
|
rs80359230
|
|
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)
|
rs276174926
|
|
NM_000059.4(BRCA2):c.961C>T (p.Gln321Ter)
|
rs80359234
|
|
NM_000059.4(BRCA2):c.9628G>T (p.Gly3210Cys)
|
|
|
NM_000059.4(BRCA2):c.9632C>A (p.Thr3211Lys)
|
rs730881583
|
|
NM_000059.4(BRCA2):c.9666del (p.Cys3222fs)
|
rs80359772
|
|
NM_000059.4(BRCA2):c.9668A>G (p.Glu3223Gly)
|
|
|
NM_000059.4(BRCA2):c.9676del (p.Tyr3226fs)
|
rs80359774
|
|
NM_000059.4(BRCA2):c.9689del (p.Leu3230fs)
|
rs755175776
|
|
NM_000059.4(BRCA2):c.9699T>A (p.Cys3233Ter)
|
rs746413844
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
NM_000059.4(BRCA2):c.9739C>T (p.Gln3247Ter)
|
rs886040849
|
|
NM_000059.4(BRCA2):c.9742A>G (p.Met3248Val)
|
rs876659778
|
|
NM_000059.4(BRCA2):c.9748dup (p.Ser3250fs)
|
rs886040850
|
|
NM_000059.4(BRCA2):c.9777del (p.Ile3259fs)
|
rs1593201815
|
|
NM_000059.4(BRCA2):c.9783C>G (p.Asp3261Glu)
|
|
|
NM_000059.4(BRCA2):c.9857T>A (p.Ile3286Asn)
|
rs398122624
|
|
NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter)
|
rs80359247
|
|
NM_000059.4(BRCA2):c.9901C>T (p.Pro3301Ser)
|
rs1566261153
|
|
NM_000059.4(BRCA2):c.9906G>C (p.Arg3302Ser)
|
|
|
NM_000059.4(BRCA2):c.9906_9907delinsTT (p.Arg3302_Ser3303delinsSerCys)
|
rs876659538
|
|
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)
|
rs4987049
|
|
NM_000059.4(BRCA2):c.9931C>T (p.Pro3311Ser)
|
rs1275047772
|
|
NM_000059.4(BRCA2):c.9945del (p.Glu3316fs)
|
rs431825381
|
|
NM_000059.4(BRCA2):c.998dup (p.His334fs)
|
rs397507437
|
|
NM_000059.4(BRCA2):c.9998T>C (p.Leu3333Pro)
|
rs1555290016
|
|
NM_000059.4:c.5007_5008insAlu
|
|
|
NM_000465.4(BARD1):c.-1_1insTCCCG (p.Met1fs)
|
rs1696478939
|
|
NM_000465.4(BARD1):c.1000_1001insC (p.Lys334fs)
|
|
|
NM_000465.4(BARD1):c.1003del (p.Arg335fs)
|
|
|
NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter)
|
rs786202559
|
|
NM_000465.4(BARD1):c.1069dup (p.Ile357fs)
|
rs2106108903
|
|
NM_000465.4(BARD1):c.1128del (p.Arg378fs)
|
|
|
NM_000465.4(BARD1):c.112C>A (p.Arg38Ser)
|
rs1553628385
|
|
NM_000465.4(BARD1):c.1137A>C (p.Lys379Asn)
|
rs1060501306
|
|
NM_000465.4(BARD1):c.1146del (p.Asn382fs)
|
|
|
NM_000465.4(BARD1):c.1153G>A (p.Asp385Asn)
|
rs587782436
|
|
NM_000465.4(BARD1):c.1168C>A (p.Leu390Ile)
|
rs774439137
|
|
NM_000465.4(BARD1):c.1204T>C (p.Ser402Pro)
|
rs1375796276
|
|
NM_000465.4(BARD1):c.1216C>G (p.Arg406Gly)
|
rs377153250
|
|
NM_000465.4(BARD1):c.121C>T (p.Leu41Phe)
|
rs751665426
|
|
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.1242G>A (p.Met414Ile)
|
rs1553622143
|
|
NM_000465.4(BARD1):c.1243A>G (p.Lys415Glu)
|
rs1694943608
|
|
NM_000465.4(BARD1):c.124G>T (p.Asp42Tyr)
|
rs762894716
|
|
NM_000465.4(BARD1):c.1267A>T (p.Lys423Ter)
|
|
|
NM_000465.4(BARD1):c.1274A>G (p.Asn425Ser)
|
rs876659775
|
|
NM_000465.4(BARD1):c.1275T>A (p.Asn425Lys)
|
rs2106107701
|
|
NM_000465.4(BARD1):c.1310T>G (p.Ile437Ser)
|
|
|
NM_000465.4(BARD1):c.1314+1G>A
|
rs753785671
|
|
NM_000465.4(BARD1):c.1319A>G (p.Asp440Gly)
|
rs753446928
|
|
NM_000465.4(BARD1):c.1325C>T (p.Pro442Leu)
|
rs730881417
|
|
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
|
|
|
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.1360C>A (p.Pro454Thr)
|
|
|
NM_000465.4(BARD1):c.1361C>T (p.Pro454Leu)
|
rs772285343
|
|
NM_000465.4(BARD1):c.1379C>T (p.Ala460Val)
|
rs2106081153
|
|
NM_000465.4(BARD1):c.1388C>T (p.Thr463Ile)
|
rs957472472
|
|
NM_000465.4(BARD1):c.1395G>A (p.Leu465=)
|
rs755655218
|
|
NM_000465.4(BARD1):c.1396-1G>C
|
|
|
NM_000465.4(BARD1):c.139C>G (p.Leu47Val)
|
rs1696454642
|
|
NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter)
|
rs1553619349
|
|
NM_000465.4(BARD1):c.1474T>C (p.Tyr492His)
|
rs1299360165
|
|
NM_000465.4(BARD1):c.1487C>G (p.Ser496Ter)
|
rs1405646805
|
|
NM_000465.4(BARD1):c.1513G>C (p.Gly505Arg)
|
rs864622240
|
|
NM_000465.4(BARD1):c.1526T>C (p.Ile509Thr)
|
rs1553619225
|
|
NM_000465.4(BARD1):c.1544C>A (p.Ser515Tyr)
|
rs746878509
|
|
NM_000465.4(BARD1):c.1549G>A (p.Gly517Arg)
|
rs1553619208
|
|
NM_000465.4(BARD1):c.1568+5G>A
|
|
|
NM_000465.4(BARD1):c.1569-7T>G
|
rs1559395026
|
|
NM_000465.4(BARD1):c.157T>G (p.Cys53Gly)
|
rs1354779388
|
|
NM_000465.4(BARD1):c.158+1G>T
|
rs1553628351
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
NM_000465.4(BARD1):c.1622C>A (p.Ser541Ter)
|
rs777937955
|
|
NM_000465.4(BARD1):c.1652C>T (p.Ser551Leu)
|
rs587781707
|
|
NM_000465.4(BARD1):c.1658C>G (p.Ser553Ter)
|
|
|
NM_000465.4(BARD1):c.1662_1665del (p.Ser555fs)
|
rs753537518
|
|
NM_000465.4(BARD1):c.1677+4A>C
|
|
|
NM_000465.4(BARD1):c.1677+4_1677+7del
|
rs1064795776
|
|
NM_000465.4(BARD1):c.1677+6T>C
|
rs1400074259
|
|
NM_000465.4(BARD1):c.1678-1_1678del
|
rs1553615184
|
|
NM_000465.4(BARD1):c.1678-2A>T
|
|
|
NM_000465.4(BARD1):c.1714C>T (p.Leu572Phe)
|
rs772222117
|
|
NM_000465.4(BARD1):c.1718T>G (p.Ile573Arg)
|
|
|
NM_000465.4(BARD1):c.1735dup (p.Ser579fs)
|
|
|
NM_000465.4(BARD1):c.1771del (p.Ile591fs)
|
rs1574739114
|
|
NM_000465.4(BARD1):c.1793C>T (p.Thr598Ile)
|
rs376256852
|
|
NM_000465.4(BARD1):c.1805G>T (p.Ser602Ile)
|
rs761883180
|
|
NM_000465.4(BARD1):c.1822G>C (p.Val608Leu)
|
|
|
NM_000465.4(BARD1):c.1829C>T (p.Pro610Leu)
|
|
|
NM_000465.4(BARD1):c.1834G>A (p.Asp612Asn)
|
|
|
NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)
|
|
|
NM_000465.4(BARD1):c.1840G>A (p.Val614Ile)
|
rs760541768
|
|
NM_000465.4(BARD1):c.1858T>G (p.Cys620Gly)
|
rs786203673
|
|
NM_000465.4(BARD1):c.1862T>C (p.Met621Thr)
|
rs1574737288
|
|
NM_000465.4(BARD1):c.1872del (p.Leu625fs)
|
rs876659572
|
|
NM_000465.4(BARD1):c.1873C>T (p.Leu625Phe)
|
|
|
NM_000465.4(BARD1):c.1904-3C>A
|
|
|
NM_000465.4(BARD1):c.1905G>A (p.Trp635Ter)
|
rs773223671
|
|
NM_000465.4(BARD1):c.1906G>A (p.Val636Ile)
|
rs1553612541
|
|
NM_000465.4(BARD1):c.1913C>T (p.Ala638Val)
|
rs1559374246
|
|
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.1955A>G (p.Glu652Gly)
|
rs876658395
|
|
NM_000465.4(BARD1):c.1967G>A (p.Gly656Asp)
|
rs572554455
|
|
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter)
|
rs730881422
|
|
NM_000465.4(BARD1):c.2001+3A>G
|
rs1553612461
|
|
NM_000465.4(BARD1):c.2008A>C (p.Lys670Gln)
|
|
|
NM_000465.4(BARD1):c.2018A>G (p.Asp673Gly)
|
|
|
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter)
|
rs1328046615
|
|
NM_000465.4(BARD1):c.2024del (p.Cys675fs)
|
rs2105987971
|
|
NM_000465.4(BARD1):c.2044A>G (p.Thr682Ala)
|
rs749485640
|
|
NM_000465.4(BARD1):c.2063dup (p.Asp689fs)
|
rs1064796026
|
|
NM_000465.4(BARD1):c.2064G>C (p.Lys688Asn)
|
rs1553612214
|
|
NM_000465.4(BARD1):c.2098_2099dup (p.Gln701fs)
|
|
|
NM_000465.4(BARD1):c.2110A>G (p.Ser704Gly)
|
rs876658687
|
|
NM_000465.4(BARD1):c.211T>A (p.Cys71Ser)
|
rs1060501308
|
|
NM_000465.4(BARD1):c.212G>A (p.Cys71Tyr)
|
rs1064793959
|
|
NM_000465.4(BARD1):c.2137G>T (p.Val713Leu)
|
rs546077003
|
|
NM_000465.4(BARD1):c.215+9T>G
|
rs1559441723
|
|
NM_000465.4(BARD1):c.217_220del (p.Asn73fs)
|
|
|
NM_000465.4(BARD1):c.2186A>G (p.Asp729Gly)
|
rs1337993937
|
|
NM_000465.4(BARD1):c.2191C>T (p.Arg731Cys)
|
rs76744638
|
|
NM_000465.4(BARD1):c.2192G>A (p.Arg731His)
|
rs587782248
|
|
NM_000465.4(BARD1):c.2195T>C (p.Phe732Ser)
|
rs760201905
|
|
NM_000465.4(BARD1):c.2196C>G (p.Phe732Leu)
|
rs1553612117
|
|
NM_000465.4(BARD1):c.2216A>C (p.Tyr739Ser)
|
rs777013688
|
|
NM_000465.4(BARD1):c.2216A>G (p.Tyr739Cys)
|
rs777013688
|
|
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter)
|
rs1259296823
|
|
NM_000465.4(BARD1):c.2233T>G (p.Tyr745Asp)
|
rs771109295
|
|
NM_000465.4(BARD1):c.2235T>A (p.Tyr745Ter)
|
|
|
NM_000465.4(BARD1):c.2246G>A (p.Arg749Lys)
|
rs1692200373
|
|
NM_000465.4(BARD1):c.2271G>T (p.Lys757Asn)
|
rs1064796724
|
|
NM_000465.4(BARD1):c.2272G>C (p.Ala758Pro)
|
rs863224672
|
|
NM_000465.4(BARD1):c.2275C>T (p.Pro759Ser)
|
rs1318628468
|
|
NM_000465.4(BARD1):c.2299G>T (p.Val767Leu)
|
rs1434753563
|
|
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)
|
rs750413473
|
|
NM_000465.4(BARD1):c.2331C>G (p.Ser777Arg)
|
|
|
NM_000465.4(BARD1):c.233G>C (p.Cys78Ser)
|
rs199780731
|
|
NM_000465.4(BARD1):c.257G>T (p.Cys86Phe)
|
rs1574839860
|
|
NM_000465.4(BARD1):c.263C>T (p.Thr88Ile)
|
rs876659356
|
|
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter)
|
rs1559437094
|
|
NM_000465.4(BARD1):c.277C>A (p.Gln93Lys)
|
rs876658571
|
|
NM_000465.4(BARD1):c.289A>G (p.Ile97Val)
|
rs1553624773
|
|
NM_000465.4(BARD1):c.304G>C (p.Asp102His)
|
|
|
NM_000465.4(BARD1):c.30_44dup (p.Gln11_Arg15dup)
|
rs587781297
|
|
NM_000465.4(BARD1):c.322T>C (p.Cys108Arg)
|
rs1060501298
|
|
NM_000465.4(BARD1):c.328A>T (p.Lys110Ter)
|
rs1574839460
|
|
NM_000465.4(BARD1):c.362C>G (p.Ser121Ter)
|
|
|
NM_000465.4(BARD1):c.364+1G>A
|
rs2106134408
|
|
NM_000465.4(BARD1):c.365-100A>G
|
|
|
NM_000465.4(BARD1):c.368T>G (p.Leu123Trp)
|
rs879253930
|
|
NM_000465.4(BARD1):c.385A>G (p.Arg129Gly)
|
rs1553622711
|
|
NM_000465.4(BARD1):c.438G>A (p.Trp146Ter)
|
rs587781806
|
|
NM_000465.4(BARD1):c.457_460dup (p.Val154fs)
|
rs772486760
|
|
NM_000465.4(BARD1):c.46_68dup (p.Ala25fs)
|
rs1553628445
|
|
NM_000465.4(BARD1):c.493del (p.Thr165fs)
|
|
|
NM_000465.4(BARD1):c.528G>C (p.Gln176His)
|
|
|
NM_000465.4(BARD1):c.539_540del (p.Ser179_Tyr180insTer)
|
rs779427628
|
|
NM_000465.4(BARD1):c.54C>A (p.Asn18Lys)
|
rs587780032
|
|
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)
|
rs752514155
|
|
NM_000465.4(BARD1):c.580_581del (p.Arg194fs)
|
|
|
NM_000465.4(BARD1):c.606del (p.Gly203fs)
|
|
|
NM_000465.4(BARD1):c.614dup (p.Gln206fs)
|
rs1559425604
|
|
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.632T>G (p.Leu211Ter)
|
rs762171436
|
|
NM_000465.4(BARD1):c.643A>T (p.Asn215Tyr)
|
rs864622353
|
|
NM_000465.4(BARD1):c.653G>A (p.Trp218Ter)
|
rs1553622534
|
|
NM_000465.4(BARD1):c.653G>T (p.Trp218Leu)
|
rs1553622534
|
|
NM_000465.4(BARD1):c.716del (p.Leu239fs)
|
rs2106110871
|
|
NM_000465.4(BARD1):c.754C>T (p.Pro252Ser)
|
rs758368819
|
|
NM_000465.4(BARD1):c.808G>T (p.Glu270Ter)
|
rs1060501288
|
|
NM_000465.4(BARD1):c.838_839del (p.Leu280fs)
|
rs876659752
|
|
NM_000465.4(BARD1):c.839dup (p.Leu280fs)
|
|
|
NM_000465.4(BARD1):c.843_845dup (p.Leu282_Ala283insLeu)
|
|
|
NM_000465.4(BARD1):c.862_863insGG (p.Ser288fs)
|
|
|
NM_000465.4(BARD1):c.873dup (p.Lys292Ter)
|
rs1553622378
|
|
NM_000465.4(BARD1):c.885T>G (p.Asn295Lys)
|
rs1433418104
|
|
NM_000465.4(BARD1):c.896C>T (p.Thr299Ile)
|
|
|
NM_000465.4(BARD1):c.907G>A (p.Val303Ile)
|
rs375048835
|
|
NM_000465.4(BARD1):c.932A>G (p.Lys311Arg)
|
|
|
NM_000465.4(BARD1):c.976A>T (p.Asn326Tyr)
|
rs587780038
|
|
NM_004360.5(CDH1):c.1003C>G (p.Arg335Gly)
|
rs587780784
|
|
NM_004360.5(CDH1):c.1008+4A>G
|
|
|
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs)
|
rs786201045
|
|
NM_004360.5(CDH1):c.1024A>G (p.Thr342Ala)
|
|
|
NM_004360.5(CDH1):c.1062del (p.Gly354_Leu355insTer)
|
|
|
NM_004360.5(CDH1):c.107G>A (p.Ser36Asn)
|
rs1064794682
|
|
NM_004360.5(CDH1):c.1096A>G (p.Thr366Ala)
|
rs1060501238
|
|
NM_004360.5(CDH1):c.1097C>G (p.Thr366Ser)
|
rs876660260
|
|
NM_004360.5(CDH1):c.1106A>G (p.Asn369Ser)
|
rs1960858920
|
|
NM_004360.5(CDH1):c.1107del (p.Asn369fs)
|
rs1567507138
|
|
NM_004360.5(CDH1):c.1112A>G (p.Asn371Ser)
|
rs1555515754
|
|
NM_004360.5(CDH1):c.112A>C (p.Thr38Pro)
|
rs786203442
|
|
NM_004360.5(CDH1):c.1158G>T (p.Glu386Asp)
|
rs2152133333
|
|
NM_004360.5(CDH1):c.1183A>G (p.Thr395Ala)
|
rs201135424
|
|
NM_004360.5(CDH1):c.1192G>A (p.Val398Met)
|
rs2152133395
|
|
NM_004360.5(CDH1):c.1202C>T (p.Ala401Val)
|
rs150795245
|
|
NM_004360.5(CDH1):c.1257TGG[1] (p.Gly421del)
|
rs775730054
|
|
NM_004360.5(CDH1):c.1269del (p.Phe423fs)
|
|
|
NM_004360.5(CDH1):c.1303A>G (p.Ile435Val)
|
rs864622644
|
|
NM_004360.5(CDH1):c.1367del (p.Val456fs)
|
|
|
NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs)
|
rs876658261
|
|
NM_004360.5(CDH1):c.149G>T (p.Arg50Leu)
|
|
|
NM_004360.5(CDH1):c.1538C>G (p.Pro513Arg)
|
|
|
NM_004360.5(CDH1):c.1550T>A (p.Met517Lys)
|
rs786203656
|
|
NM_004360.5(CDH1):c.1565+1G>A
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1G>T
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+2dup
|
rs1555516200
|
|
NM_004360.5(CDH1):c.1570C>T (p.Arg524Trp)
|
rs373605261
|
|
NM_004360.5(CDH1):c.1590dup (p.Asn531fs)
|
rs1555516535
|
|
NM_004360.5(CDH1):c.1675A>C (p.Ser559Arg)
|
|
|
NM_004360.5(CDH1):c.1676G>A (p.Ser559Asn)
|
rs1596960625
|
|
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg)
|
rs746481984
|
|
NM_004360.5(CDH1):c.1693A>G (p.Ile565Val)
|
rs1961080115
|
|
NM_004360.5(CDH1):c.1700C>T (p.Ala567Val)
|
rs886041160
|
|
NM_004360.5(CDH1):c.1707C>A (p.Asp569Glu)
|
rs876660905
|
|
NM_004360.5(CDH1):c.1711+2_1711+5dup
|
|
|
NM_004360.5(CDH1):c.1711+5G>A
|
rs1131690818
|
|
NM_004360.5(CDH1):c.172G>T (p.Glu58Ter)
|
|
|
NM_004360.5(CDH1):c.1745T>G (p.Leu582Arg)
|
|
|
NM_004360.5(CDH1):c.1772A>G (p.Asn591Ser)
|
rs1555516835
|
|
NM_004360.5(CDH1):c.1789C>A (p.Pro597Thr)
|
rs201625049
|
|
NM_004360.5(CDH1):c.178T>C (p.Cys60Arg)
|
|
|
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter)
|
rs121964877
|
|
NM_004360.5(CDH1):c.1819C>T (p.Pro607Ser)
|
|
|
NM_004360.5(CDH1):c.1832T>A (p.Val611Asp)
|
rs779351070
|
|
NM_004360.5(CDH1):c.1864A>T (p.Asn622Tyr)
|
rs367849039
|
|
NM_004360.5(CDH1):c.1868C>T (p.Thr623Ile)
|
rs1961165592
|
|
NM_004360.5(CDH1):c.1914G>A (p.Trp638Ter)
|
rs1961170989
|
|
NM_004360.5(CDH1):c.1960C>A (p.Pro654Thr)
|
rs2152139271
|
|
NM_004360.5(CDH1):c.1979T>A (p.Val660Glu)
|
rs1555517090
|
|
NM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer)
|
rs730881653
|
|
NM_004360.5(CDH1):c.1999del (p.Leu667fs)
|
rs786202033
|
|
NM_004360.5(CDH1):c.200C>G (p.Ala67Gly)
|
rs730881660
|
|
NM_004360.5(CDH1):c.2038A>C (p.Thr680Pro)
|
|
|
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)
|
rs587781276
|
|
NM_004360.5(CDH1):c.2135G>C (p.Gly712Ala)
|
|
|
NM_004360.5(CDH1):c.2152C>G (p.Leu718Val)
|
rs876658591
|
|
NM_004360.5(CDH1):c.2165-1G>C
|
rs1385720097
|
|
NM_004360.5(CDH1):c.2165T>C (p.Ile722Thr)
|
rs878854682
|
|
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)
|
rs876658932
|
|
NM_004360.5(CDH1):c.2243C>A (p.Thr748Asn)
|
rs1555517660
|
|
NM_004360.5(CDH1):c.2275G>T (p.Gly759Ter)
|
|
|
NM_004360.5(CDH1):c.2284G>A (p.Glu762Lys)
|
|
|
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)
|
rs587780787
|
|
NM_004360.5(CDH1):c.2292C>A (p.Asp764Glu)
|
rs61747636
|
|
NM_004360.5(CDH1):c.2296-17A>G
|
rs2152142185
|
|
NM_004360.5(CDH1):c.2323G>A (p.Gly775Ser)
|
rs1163417116
|
|
NM_004360.5(CDH1):c.2331C>G (p.Asp777Glu)
|
rs114265540
|
|
NM_004360.5(CDH1):c.2356G>A (p.Asp786Asn)
|
rs876659218
|
|
NM_004360.5(CDH1):c.2369C>A (p.Thr790Asn)
|
rs587780120
|
|
NM_004360.5(CDH1):c.236C>G (p.Thr79Arg)
|
rs876658359
|
|
NM_004360.5(CDH1):c.2386dup (p.Arg796fs)
|
rs1375617541
|
|
NM_004360.5(CDH1):c.2399G>T (p.Arg800Leu)
|
rs370345996
|
|
NM_004360.5(CDH1):c.2401C>G (p.Pro801Ala)
|
rs876660704
|
|
NM_004360.5(CDH1):c.2423G>A (p.Gly808Glu)
|
|
|
NM_004360.5(CDH1):c.2430del (p.Phe810fs)
|
rs786203752
|
|
NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter)
|
rs1555518211
|
|
NM_004360.5(CDH1):c.2466del (p.Thr823fs)
|
|
|
NM_004360.5(CDH1):c.2467A>G (p.Thr823Ala)
|
rs878854686
|
|
NM_004360.5(CDH1):c.2468C>T (p.Thr823Ile)
|
rs1961533891
|
|
NM_004360.5(CDH1):c.2519C>T (p.Ser840Phe)
|
rs587781300
|
|
NM_004360.5(CDH1):c.2574C>G (p.Asp858Glu)
|
rs1060501245
|
|
NM_004360.5(CDH1):c.2593T>C (p.Trp865Arg)
|
rs1555518267
|
|
NM_004360.5(CDH1):c.2624T>G (p.Met875Arg)
|
rs900118000
|
|
NM_004360.5(CDH1):c.2647T>C (p.Ter883Gln)
|
rs932491569
|
|
NM_004360.5(CDH1):c.26C>A (p.Ser9Ter)
|
rs1555509646
|
|
NM_004360.5(CDH1):c.304G>T (p.Ala102Ser)
|
rs368492235
|
|
NM_004360.5(CDH1):c.313T>A (p.Ser105Thr)
|
rs1165815510
|
|
NM_004360.5(CDH1):c.382del (p.His128fs)
|
rs1555514492
|
|
NM_004360.5(CDH1):c.385C>T (p.Gln129Ter)
|
|
|
NM_004360.5(CDH1):c.38T>C (p.Leu13Pro)
|
|
|
NM_004360.5(CDH1):c.458A>G (p.Lys153Arg)
|
|
|
NM_004360.5(CDH1):c.49-2A>G
|
rs1060501226
|
|
NM_004360.5(CDH1):c.49-3C>A
|
rs587782366
|
|
NM_004360.5(CDH1):c.524_525delinsAT (p.Leu175His)
|
|
|
NM_004360.5(CDH1):c.532-1G>C
|
rs771085839
|
|
NM_004360.5(CDH1):c.570C>G (p.Tyr190Ter)
|
|
|
NM_004360.5(CDH1):c.578del (p.Thr193fs)
|
|
|
NM_004360.5(CDH1):c.61C>T (p.Leu21Phe)
|
rs863224729
|
|
NM_004360.5(CDH1):c.684C>G (p.Tyr228Ter)
|
rs1960744183
|
|
NM_004360.5(CDH1):c.700G>A (p.Ala234Thr)
|
rs878854694
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
NM_004360.5(CDH1):c.833-2A>G
|
rs1555515596
|
|
NM_004360.5(CDH1):c.847G>C (p.Glu283Gln)
|
|
|
NM_004360.5(CDH1):c.865G>A (p.Ala289Thr)
|
rs1255556757
|
|
NM_004360.5(CDH1):c.970G>A (p.Gly324Arg)
|
|
|
NM_004360.5(CDH1):c.995G>T (p.Gly332Val)
|
rs1597894308
|
|
NM_007194.4(CHEK2):c.1008+1G>A
|
rs1555915298
|
|
NM_007194.4(CHEK2):c.1025del (p.Gly342fs)
|
|
|
NM_007194.4(CHEK2):c.1031T>C (p.Ile344Thr)
|
rs1569116223
|
|
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr)
|
rs864622537
|
|
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs)
|
rs2145817185
|
|
NM_007194.4(CHEK2):c.1063del (p.Leu355fs)
|
rs1555914279
|
|
NM_007194.4(CHEK2):c.1066T>C (p.Ser356Pro)
|
rs2052608443
|
|
NM_007194.4(CHEK2):c.1070C>T (p.Ser357Phe)
|
rs765425451
|
|
NM_007194.4(CHEK2):c.1081G>T (p.Asp361Tyr)
|
rs199859140
|
|
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)
|
rs2052563898
|
|
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg)
|
rs786202446
|
|
NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter)
|
|
|
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs)
|
rs1060502684
|
|
NM_007194.4(CHEK2):c.1148C>A (p.Thr383Asn)
|
rs202089930
|
|
NM_007194.4(CHEK2):c.115T>C (p.Ser39Pro)
|
rs1060502696
|
|
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.1183G>C (p.Val395Leu)
|
rs587780170
|
|
NM_007194.4(CHEK2):c.1202C>G (p.Thr401Ser)
|
rs1601722432
|
|
NM_007194.4(CHEK2):c.1205C>T (p.Ala402Val)
|
rs1175088679
|
|
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs)
|
rs1555913672
|
|
NM_007194.4(CHEK2):c.1211A>G (p.Tyr404Cys)
|
rs1060502707
|
|
NM_007194.4(CHEK2):c.1216C>A (p.Arg406Ser)
|
rs587782527
|
|
NM_007194.4(CHEK2):c.1219G>C (p.Ala407Pro)
|
|
|
NM_007194.4(CHEK2):c.122C>T (p.Ser41Phe)
|
rs121908694
|
|
NM_007194.4(CHEK2):c.1231T>G (p.Trp411Gly)
|
rs587780172
|
|
NM_007194.4(CHEK2):c.1238_1246delinsAGGAG (p.Leu413_Ile416delinsTer)
|
rs1555913645
|
|
NM_007194.4(CHEK2):c.1239del (p.Gly414fs)
|
|
|
NM_007194.4(CHEK2):c.1247T>C (p.Ile416Thr)
|
rs1555913642
|
|
NM_007194.4(CHEK2):c.1259+1G>C
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr)
|
rs578218280
|
|
NM_007194.4(CHEK2):c.1259G>T (p.Cys420Phe)
|
rs578218280
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr)
|
rs549755590
|
|
NM_007194.4(CHEK2):c.1274C>T (p.Pro425Leu)
|
rs1555913537
|
|
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)
|
rs1569112324
|
|
NM_007194.4(CHEK2):c.1289A>G (p.His430Arg)
|
|
|
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter)
|
rs771772104
|
|
NM_007194.4(CHEK2):c.1297C>T (p.Gln433Ter)
|
rs1555913494
|
|
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)
|
rs778989252
|
|
NM_007194.4(CHEK2):c.1337del (p.Asn446fs)
|
rs876659639
|
|
NM_007194.4(CHEK2):c.1339T>C (p.Phe447Leu)
|
rs17881473
|
|
NM_007194.4(CHEK2):c.133A>G (p.Thr45Ala)
|
|
|
NM_007194.4(CHEK2):c.1375+1G>A
|
rs759706360
|
|
NM_007194.4(CHEK2):c.1392G>T (p.Lys464Asn)
|
rs764396738
|
|
NM_007194.4(CHEK2):c.1402G>A (p.Val468Ile)
|
rs876660084
|
|
NM_007194.4(CHEK2):c.1408G>C (p.Asp470His)
|
rs876658449
|
|
NM_007194.4(CHEK2):c.1408G>T (p.Asp470Tyr)
|
rs876658449
|
|
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del)
|
rs876659422
|
|
NM_007194.4(CHEK2):c.1434del (p.Glu479fs)
|
rs786202601
|
|
NM_007194.4(CHEK2):c.1452del (p.Trp485fs)
|
rs2145784297
|
|
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter)
|
rs1601715852
|
|
NM_007194.4(CHEK2):c.1462-2A>G
|
rs587782575
|
|
NM_007194.4(CHEK2):c.146C>T (p.Ser49Phe)
|
rs730881694
|
|
NM_007194.4(CHEK2):c.1479A>T (p.Arg493Ser)
|
rs1601702414
|
|
NM_007194.4(CHEK2):c.1490A>G (p.Asp497Gly)
|
|
|
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs)
|
rs757016287
|
|
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs)
|
rs587782707
|
|
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.1522del (p.Leu508fs)
|
|
|
NM_007194.4(CHEK2):c.1542+3A>G
|
rs1060502722
|
|
NM_007194.4(CHEK2):c.1542G>T (p.Gln514His)
|
rs747797219
|
|
NM_007194.4(CHEK2):c.1547del (p.Ser516fs)
|
rs1555911635
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln)
|
rs587780180
|
|
NM_007194.4(CHEK2):c.1567del (p.Arg523fs)
|
rs587782684
|
|
NM_007194.4(CHEK2):c.1570G>A (p.Glu524Lys)
|
rs876658872
|
|
NM_007194.4(CHEK2):c.159_160del (p.His54fs)
|
rs2054324732
|
|
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys)
|
rs576248104
|
|
NM_007194.4(CHEK2):c.1618G>T (p.Ala540Ser)
|
rs767414081
|
|
NM_007194.4(CHEK2):c.170C>G (p.Ser57Cys)
|
rs730881695
|
|
NM_007194.4(CHEK2):c.17_18insGGGA (p.Asp6fs)
|
|
|
NM_007194.4(CHEK2):c.183C>A (p.Ser61Arg)
|
rs2054322201
|
|
NM_007194.4(CHEK2):c.184T>C (p.Ser62Pro)
|
rs2146148379
|
|
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter)
|
rs768384031
|
|
NM_007194.4(CHEK2):c.230A>T (p.Asp77Val)
|
rs1555932352
|
|
NM_007194.4(CHEK2):c.247del (p.Gln83fs)
|
rs587782766
|
|
NM_007194.4(CHEK2):c.254C>A (p.Pro85His)
|
rs17883862
|
|
NM_007194.4(CHEK2):c.275C>G (p.Pro92Arg)
|
rs779269031
|
|
NM_007194.4(CHEK2):c.277del (p.Trp93fs)
|
rs786203458
|
|
NM_007194.4(CHEK2):c.298C>T (p.Gln100Ter)
|
rs2054311767
|
|
NM_007194.4(CHEK2):c.310G>C (p.Ala104Pro)
|
rs1601851066
|
|
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)
|
rs1349961118
|
|
NM_007194.4(CHEK2):c.320-1G>T
|
rs864622613
|
|
NM_007194.4(CHEK2):c.320-3_320del
|
|
|
NM_007194.4(CHEK2):c.325G>A (p.Val109Met)
|
rs1569159114
|
|
NM_007194.4(CHEK2):c.32A>C (p.Gln11Pro)
|
rs369256181
|
|
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter)
|
rs905674348
|
|
NM_007194.4(CHEK2):c.355A>C (p.Lys119Gln)
|
rs2053964255
|
|
NM_007194.4(CHEK2):c.371_372delinsAG (p.Cys124Ter)
|
|
|
NM_007194.4(CHEK2):c.397A>G (p.Thr133Ala)
|
rs1060502703
|
|
NM_007194.4(CHEK2):c.401A>T (p.Asp134Val)
|
rs1404473412
|
|
NM_007194.4(CHEK2):c.405del (p.Lys135fs)
|
rs730881699
|
|
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)
|
rs200917541
|
|
NM_007194.4(CHEK2):c.432del (p.Arg145fs)
|
rs1555927148
|
|
NM_007194.4(CHEK2):c.434G>C (p.Arg145Pro)
|
rs587781667
|
|
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly)
|
rs876660482
|
|
NM_007194.4(CHEK2):c.444+1del
|
rs1064793780
|
|
NM_007194.4(CHEK2):c.444+2T>C
|
rs560596101
|
|
NM_007194.4(CHEK2):c.444G>A (p.Arg148=)
|
rs1298109942
|
|
NM_007194.4(CHEK2):c.445-1G>A
|
rs587782830
|
|
NM_007194.4(CHEK2):c.449del (p.Val150fs)
|
rs1601824270
|
|
NM_007194.4(CHEK2):c.452_453delinsA (p.Gly151fs)
|
|
|
NM_007194.4(CHEK2):c.465_468del (p.Tyr156fs)
|
rs1601824130
|
|
NM_007194.4(CHEK2):c.473C>T (p.Ala158Val)
|
rs864622351
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007194.4(CHEK2):c.482A>G (p.Glu161Gly)
|
rs730881683
|
|
NM_007194.4(CHEK2):c.496A>G (p.Asn166Asp)
|
rs876659089
|
|
NM_007194.4(CHEK2):c.502A>G (p.Thr168Ala)
|
rs1601823689
|
|
NM_007194.4(CHEK2):c.507del (p.Phe169fs)
|
rs587780183
|
|
NM_007194.4(CHEK2):c.514A>G (p.Thr172Ala)
|
rs786203836
|
|
NM_007194.4(CHEK2):c.524dup (p.Gly176fs)
|
rs587780184
|
|
NM_007194.4(CHEK2):c.528del (p.Gly178fs)
|
|
|
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr)
|
rs786203973
|
|
NM_007194.4(CHEK2):c.549_552del (p.Asn184fs)
|
|
|
NM_007194.4(CHEK2):c.552T>A (p.Asn184Lys)
|
|
|
NM_007194.4(CHEK2):c.56C>G (p.Ser19Ter)
|
rs1555932877
|
|
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+3A>C
|
|
|
NM_007194.4(CHEK2):c.593-1G>A
|
rs786203229
|
|
NM_007194.4(CHEK2):c.593-1G>C
|
rs786203229
|
|
NM_007194.4(CHEK2):c.593-1G>T
|
rs786203229
|
|
NM_007194.4(CHEK2):c.602T>C (p.Phe201Ser)
|
rs1555924525
|
|
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.607G>A (p.Asp203Asn)
|
rs1601806038
|
|
NM_007194.4(CHEK2):c.611T>C (p.Leu204Pro)
|
rs1569150113
|
|
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)
|
rs1346554630
|
|
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter)
|
rs1569149953
|
|
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs)
|
rs756131136
|
|
NM_007194.4(CHEK2):c.653A>T (p.Asp218Val)
|
|
|
NM_007194.4(CHEK2):c.655del (p.Glu219fs)
|
rs786202497
|
|
NM_007194.4(CHEK2):c.679G>A (p.Gly227Arg)
|
rs878854920
|
|
NM_007194.4(CHEK2):c.681_683+1del
|
|
|
NM_007194.4(CHEK2):c.683+1G>T
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+293C>T
|
|
|
NM_007194.4(CHEK2):c.684-1G>A
|
rs1298667185
|
|
NM_007194.4(CHEK2):c.695G>T (p.Gly232Val)
|
rs779322187
|
|
NM_007194.4(CHEK2):c.696dup (p.Glu233fs)
|
rs1601784008
|
|
NM_007194.4(CHEK2):c.700_712del (p.Val234fs)
|
|
|
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)
|
rs121908702
|
|
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer)
|
rs1392940377
|
|
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val)
|
rs779457035
|
|
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)
|
rs786201896
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
NM_007194.4(CHEK2):c.793-1G>T
|
rs730881687
|
|
NM_007194.4(CHEK2):c.797C>T (p.Pro266Leu)
|
rs786203778
|
|
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs)
|
rs1474786480
|
|
NM_007194.4(CHEK2):c.823del (p.Glu275fs)
|
rs769430546
|
|
NM_007194.4(CHEK2):c.839T>G (p.Leu280Arg)
|
rs1490781911
|
|
NM_007194.4(CHEK2):c.846+1G>T
|
rs864622149
|
|
NM_007194.4(CHEK2):c.846+2dup
|
rs1555920102
|
|
NM_007194.4(CHEK2):c.846+3A>C
|
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007194.4(CHEK2):c.847-14_847-2delinsGG
|
rs1555917041
|
|
NM_007194.4(CHEK2):c.847-1G>T
|
|
|
NM_007194.4(CHEK2):c.856A>G (p.Ile286Val)
|
rs986132746
|
|
NM_007194.4(CHEK2):c.860A>T (p.Lys287Met)
|
rs876659184
|
|
NM_007194.4(CHEK2):c.862A>G (p.Ile288Val)
|
|
|
NM_007194.4(CHEK2):c.87_107dup (p.Ser31_Gly37dup)
|
rs762863407
|
|
NM_007194.4(CHEK2):c.885A>T (p.Glu295Asp)
|
rs1555916935
|
|
NM_007194.4(CHEK2):c.887A>G (p.Asp296Gly)
|
rs777397542
|
|
NM_007194.4(CHEK2):c.897T>G (p.Ile299Met)
|
|
|
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)
|
rs886039739
|
|
NM_007194.4(CHEK2):c.906del (p.Glu302fs)
|
rs2052974883
|
|
NM_007194.4(CHEK2):c.908+2dup
|
|
|
NM_007194.4(CHEK2):c.908+3A>T
|
rs1601752050
|
|
NM_007194.4(CHEK2):c.908+5G>A
|
rs1064796016
|
|
NM_007194.4(CHEK2):c.909-1G>A
|
rs886039721
|
|
NM_007194.4(CHEK2):c.916G>T (p.Gly306Trp)
|
rs587783051
|
|
NM_007194.4(CHEK2):c.917G>A (p.Gly306Glu)
|
rs587780192
|
|
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.91del (p.Ser31fs)
|
|
|
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu)
|
rs876661053
|
|
NM_007194.4(CHEK2):c.940G>T (p.Val314Leu)
|
rs778573074
|
|
NM_007194.4(CHEK2):c.982T>C (p.Phe328Leu)
|
rs2052760168
|
|
NM_007294.4(BRCA1):c.1224del (p.Lys408_Val409insTer)
|
rs879255320
|
|
NM_007294.4(BRCA1):c.1674del (p.Gly559fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1912del (p.Glu638fs)
|
rs80357933
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=)
|
rs4986846
|
|
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)
|
rs80357664
|
|
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)
|
rs799917
|
|
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)
|
rs80357635
|
|
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs)
|
rs397509067
|
|
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)
|
rs28897686
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)
|
rs80356991
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)
|
rs1799966
|
|
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)
|
rs80359876
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)
|
rs28897696
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.81-13C>G
|
rs56328013
|
|
NM_007294.4(BRCA1):c.81-14C>T
|
rs80358006
|
|
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)
|
rs387906563
|
|
NM_024675.4(PALB2):c.101G>A (p.Arg34His)
|
rs144944814
|
|
NM_024675.4(PALB2):c.101G>T (p.Arg34Leu)
|
rs144944814
|
|
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.1050_1053del (p.Thr351fs)
|
rs515726060
|
|
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs)
|
rs180177099
|
|
NM_024675.4(PALB2):c.1059del (p.Lys353fs)
|
rs730881872
|
|
NM_024675.4(PALB2):c.109-12T>A
|
rs774949203
|
|
NM_024675.4(PALB2):c.109-2A>T
|
|
|
NM_024675.4(PALB2):c.109-39A>C
|
|
|
NM_024675.4(PALB2):c.109C>T (p.Arg37Cys)
|
rs200048921
|
|
NM_024675.4(PALB2):c.1114dup (p.Ser372fs)
|
rs1060499815
|
|
NM_024675.4(PALB2):c.1117del (p.Glu373fs)
|
|
|
NM_024675.4(PALB2):c.1132_1136dup (p.Lys379fs)
|
|
|
NM_024675.4(PALB2):c.1160C>T (p.Ser387Phe)
|
rs587781863
|
|
NM_024675.4(PALB2):c.1169C>G (p.Ser390Cys)
|
|
|
NM_024675.4(PALB2):c.1179del (p.Lys393fs)
|
rs1567221417
|
|
NM_024675.4(PALB2):c.1192del (p.Val398fs)
|
rs1555461407
|
|
NM_024675.4(PALB2):c.1227_1231del (p.Tyr409_Arg411delinsTer)
|
rs1555461385
|
|
NM_024675.4(PALB2):c.1316G>C (p.Gly439Ala)
|
rs537258442
|
|
NM_024675.4(PALB2):c.1317del (p.Phe440fs)
|
rs515726067
|
|
NM_024675.4(PALB2):c.1351T>A (p.Leu451Ile)
|
rs772691867
|
|
NM_024675.4(PALB2):c.136C>T (p.His46Tyr)
|
|
|
NM_024675.4(PALB2):c.1421G>A (p.Ser474Asn)
|
rs786201806
|
|
NM_024675.4(PALB2):c.1424C>T (p.Ser475Leu)
|
rs886039479
|
|
NM_024675.4(PALB2):c.1424dup (p.Arg476fs)
|
rs1555461294
|
|
NM_024675.4(PALB2):c.1429A>G (p.Thr477Ala)
|
rs1555461285
|
|
NM_024675.4(PALB2):c.1434_1435del (p.Gln479fs)
|
|
|
NM_024675.4(PALB2):c.1437_1438del (p.Lys480fs)
|
rs1555461280
|
|
NM_024675.4(PALB2):c.1438A>T (p.Lys480Ter)
|
rs1057520653
|
|
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)
|
rs786203714
|
|
NM_024675.4(PALB2):c.1479del (p.Thr494fs)
|
rs515726071
|
|
NM_024675.4(PALB2):c.147_149del (p.Lys50del)
|
rs1967103032
|
|
NM_024675.4(PALB2):c.1485del (p.Asp496fs)
|
rs1555461256
|
|
NM_024675.4(PALB2):c.1490del (p.Asn497fs)
|
rs1555461253
|
|
NM_024675.4(PALB2):c.1506G>C (p.Lys502Asn)
|
rs371142570
|
|
NM_024675.4(PALB2):c.1507G>C (p.Ala503Pro)
|
rs1555461243
|
|
NM_024675.4(PALB2):c.1520C>T (p.Ala507Val)
|
|
|
NM_024675.4(PALB2):c.1523C>A (p.Pro508His)
|
rs2142413565
|
|
NM_024675.4(PALB2):c.1546del (p.Arg516fs)
|
rs587781560
|
|
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter)
|
rs587776413
|
|
NM_024675.4(PALB2):c.1592del (p.Leu531fs)
|
rs180177102
|
|
NM_024675.4(PALB2):c.1610C>A (p.Ser537Ter)
|
|
|
NM_024675.4(PALB2):c.163_164dup (p.Gln55fs)
|
|
|
NM_024675.4(PALB2):c.1641_1669del (p.Ser548fs)
|
|
|
NM_024675.4(PALB2):c.1648A>G (p.Lys550Glu)
|
rs1555461178
|
|
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer)
|
rs515726073
|
|
NM_024675.4(PALB2):c.1685-1G>C
|
rs1057520645
|
|
NM_024675.4(PALB2):c.1702C>A (p.Gln568Lys)
|
rs876659354
|
|
NM_024675.4(PALB2):c.1709_1710del (p.Glu570fs)
|
rs1597091425
|
|
NM_024675.4(PALB2):c.1712A>T (p.Asp571Val)
|
rs1597091418
|
|
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)
|
rs730881876
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp)
|
rs587782151
|
|
NM_024675.4(PALB2):c.1784del (p.Asp595fs)
|
rs2142389365
|
|
NM_024675.4(PALB2):c.1790T>C (p.Met597Thr)
|
rs786203214
|
|
NM_024675.4(PALB2):c.1802del (p.Lys601fs)
|
|
|
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter)
|
rs876660475
|
|
NM_024675.4(PALB2):c.1849_1850insCG (p.Glu617fs)
|
|
|
NM_024675.4(PALB2):c.1869G>C (p.Lys623Asn)
|
rs1555460612
|
|
NM_024675.4(PALB2):c.18G>T (p.Gly6=)
|
rs587782462
|
|
NM_024675.4(PALB2):c.18_22del (p.Lys7fs)
|
|
|
NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala)
|
rs876659058
|
|
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter)
|
rs760094988
|
|
NM_024675.4(PALB2):c.1919C>T (p.Ser640Leu)
|
rs760094988
|
|
NM_024675.4(PALB2):c.191C>T (p.Ser64Leu)
|
rs1567223942
|
|
NM_024675.4(PALB2):c.1924del (p.Met642fs)
|
rs730881865
|
|
NM_024675.4(PALB2):c.1947del (p.Glu650fs)
|
|
|
NM_024675.4(PALB2):c.1965dup (p.Pro656fs)
|
rs1597090596
|
|
NM_024675.4(PALB2):c.1969_1981dup (p.Pro661fs)
|
rs1966862408
|
|
NM_024675.4(PALB2):c.1972G>A (p.Glu658Lys)
|
rs1555460542
|
|
NM_024675.4(PALB2):c.1993G>A (p.Asp665Asn)
|
|
|
NM_024675.4(PALB2):c.2006del (p.Glu669fs)
|
rs587778584
|
|
NM_024675.4(PALB2):c.2020_2021del (p.Asp674fs)
|
rs2142383242
|
|
NM_024675.4(PALB2):c.2052del (p.Arg686fs)
|
rs587782680
|
|
NM_024675.4(PALB2):c.2056del (p.Arg686fs)
|
rs1060502771
|
|
NM_024675.4(PALB2):c.2083A>T (p.Lys695Ter)
|
rs1567218141
|
|
NM_024675.4(PALB2):c.2086A>G (p.Thr696Ala)
|
rs1195275297
|
|
NM_024675.4(PALB2):c.2109_2112del (p.Leu703fs)
|
rs2142380816
|
|
NM_024675.4(PALB2):c.211+272C>T
|
|
|
NM_024675.4(PALB2):c.212-2A>C
|
rs730881879
|
|
NM_024675.4(PALB2):c.2120C>T (p.Pro707Leu)
|
rs1363384297
|
|
NM_024675.4(PALB2):c.2120del (p.Pro707fs)
|
rs587780210
|
|
NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys)
|
rs770145849
|
|
NM_024675.4(PALB2):c.2188A>G (p.Ile730Val)
|
rs1060502735
|
|
NM_024675.4(PALB2):c.2203C>A (p.Pro735Thr)
|
rs1597089790
|
|
NM_024675.4(PALB2):c.2221G>A (p.Gly741Ser)
|
rs1555460440
|
|
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)
|
rs1555461875
|
|
NM_024675.4(PALB2):c.224_228del (p.Lys75fs)
|
rs1064795640
|
|
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs)
|
rs755471995
|
|
NM_024675.4(PALB2):c.226del (p.Ile76fs)
|
rs587782443
|
|
NM_024675.4(PALB2):c.2272C>A (p.Pro758Thr)
|
rs1064794078
|
|
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.2298dup (p.Val767fs)
|
rs1555460407
|
|
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)
|
rs180177111
|
|
NM_024675.4(PALB2):c.2325dup (p.Phe776fs)
|
rs876659997
|
|
NM_024675.4(PALB2):c.2329delinsCTGTC (p.Asp777fs)
|
|
|
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.2389C>T (p.Gln797Ter)
|
rs1060502768
|
|
NM_024675.4(PALB2):c.2390_2396del (p.Gln797fs)
|
rs587780211
|
|
NM_024675.4(PALB2):c.2393_2394dup (p.Thr799fs)
|
rs1966856749
|
|
NM_024675.4(PALB2):c.2405del (p.Cys802fs)
|
rs1966856604
|
|
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)
|
rs747148023
|
|
NM_024675.4(PALB2):c.2429C>T (p.Pro810Leu)
|
rs1555460335
|
|
NM_024675.4(PALB2):c.2448C>G (p.Phe816Leu)
|
rs876659879
|
|
NM_024675.4(PALB2):c.2461A>T (p.Asn821Tyr)
|
rs958566673
|
|
NM_024675.4(PALB2):c.2463delinsAA (p.Asn821fs)
|
|
|
NM_024675.4(PALB2):c.2470del (p.Cys824fs)
|
rs876658348
|
|
NM_024675.4(PALB2):c.2470dup (p.Cys824fs)
|
rs863224521
|
|
NM_024675.4(PALB2):c.2507T>A (p.Val836Asp)
|
rs1060502793
|
|
NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter)
|
rs587778587
|
|
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)
|
rs750650768
|
|
NM_024675.4(PALB2):c.2515-1G>A
|
rs587776417
|
|
NM_024675.4(PALB2):c.2515-3C>G
|
rs957106428
|
|
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)
|
rs770996884
|
|
NM_024675.4(PALB2):c.2575del (p.Ser859fs)
|
rs2142367858
|
|
NM_024675.4(PALB2):c.2586+1_2586+3delinsTTG
|
|
|
NM_024675.4(PALB2):c.2587-22A>G
|
|
|
NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer)
|
rs767633741
|
|
NM_024675.4(PALB2):c.2615T>C (p.Val872Ala)
|
rs730881877
|
|
NM_024675.4(PALB2):c.261_265delinsA (p.His87fs)
|
|
|
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs)
|
rs876660643
|
|
NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs)
|
rs730881868
|
|
NM_024675.4(PALB2):c.2647A>G (p.Lys883Glu)
|
rs1966842668
|
|
NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter)
|
rs45476495
|
|
NM_024675.4(PALB2):c.26delinsCG (p.Leu9fs)
|
rs587781662
|
|
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.2727_2728del (p.Thr911fs)
|
rs730881869
|
|
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter)
|
rs1555459925
|
|
NM_024675.4(PALB2):c.2748+1G>A
|
rs753153576
|
|
NM_024675.4(PALB2):c.2748+1G>T
|
rs753153576
|
|
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser)
|
rs515726094
|
|
NM_024675.4(PALB2):c.2759del (p.Leu920fs)
|
|
|
NM_024675.4(PALB2):c.2760dup (p.Gln921fs)
|
rs876660147
|
|
NM_024675.4(PALB2):c.2776C>T (p.Pro926Ser)
|
|
|
NM_024675.4(PALB2):c.2777C>T (p.Pro926Leu)
|
rs1555459732
|
|
NM_024675.4(PALB2):c.2785_2786delinsAT (p.Tyr929Ile)
|
rs1597082795
|
|
NM_024675.4(PALB2):c.2810G>A (p.Gly937Glu)
|
rs786202641
|
|
NM_024675.4(PALB2):c.2816del (p.Leu939fs)
|
|
|
NM_024675.4(PALB2):c.2827_2830del (p.Glu943fs)
|
rs1224428422
|
|
NM_024675.4(PALB2):c.2834+2T>A
|
|
|
NM_024675.4(PALB2):c.2861A>G (p.Glu954Gly)
|
rs375942535
|
|
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter)
|
rs1219715328
|
|
NM_024675.4(PALB2):c.2878del (p.Leu960fs)
|
rs1064795824
|
|
NM_024675.4(PALB2):c.2882T>C (p.Leu961Pro)
|
rs786203248
|
|
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)
|
rs180177126
|
|
NM_024675.4(PALB2):c.2931dup (p.Val978fs)
|
rs587782570
|
|
NM_024675.4(PALB2):c.2938del (p.Ser980fs)
|
rs1555459540
|
|
NM_024675.4(PALB2):c.2957A>T (p.Asp986Val)
|
|
|
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.2974_2975dup (p.Met992fs)
|
rs1555459520
|
|
NM_024675.4(PALB2):c.2982dup (p.Ala995fs)
|
rs180177127
|
|
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)
|
rs786203775
|
|
NM_024675.4(PALB2):c.2996+5G>T
|
rs879254193
|
|
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs)
|
rs786203488
|
|
NM_024675.4(PALB2):c.3004_3008del (p.Glu1002fs)
|
|
|
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)
|
rs886039683
|
|
NM_024675.4(PALB2):c.3018G>T (p.Leu1006Phe)
|
rs1597079904
|
|
NM_024675.4(PALB2):c.3023C>G (p.Pro1008Arg)
|
|
|
NM_024675.4(PALB2):c.3047T>G (p.Phe1016Cys)
|
rs879254154
|
|
NM_024675.4(PALB2):c.3048del (p.Phe1016fs)
|
rs515726104
|
|
NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs)
|
rs1597079711
|
|
NM_024675.4(PALB2):c.3074dup (p.Leu1026fs)
|
|
|
NM_024675.4(PALB2):c.3103A>T (p.Ile1035Phe)
|
rs863224783
|
|
NM_024675.4(PALB2):c.3114-1G>A
|
rs886039619
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_024675.4(PALB2):c.311C>T (p.Pro104Leu)
|
rs1555461835
|
|
NM_024675.4(PALB2):c.3124dup (p.Thr1042fs)
|
rs1555458828
|
|
NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter)
|
rs1021662947
|
|
NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter)
|
rs2142298948
|
|
NM_024675.4(PALB2):c.3191A>G (p.Tyr1064Cys)
|
rs730881893
|
|
NM_024675.4(PALB2):c.3201+1G>C
|
rs587776423
|
|
NM_024675.4(PALB2):c.3201G>A (p.Met1067Ile)
|
rs1555458809
|
|
NM_024675.4(PALB2):c.3202-1G>A
|
rs515726111
|
|
NM_024675.4(PALB2):c.3202-1G>C
|
rs515726111
|
|
NM_024675.4(PALB2):c.3203G>A (p.Gly1068Glu)
|
rs759587160
|
|
NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter)
|
rs886039634
|
|
NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer)
|
rs886039503
|
|
NM_024675.4(PALB2):c.3275T>C (p.Leu1092Pro)
|
rs1597066815
|
|
NM_024675.4(PALB2):c.3277A>G (p.Ile1093Val)
|
rs1597066812
|
|
NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs)
|
rs587782337
|
|
NM_024675.4(PALB2):c.3296C>T (p.Thr1099Met)
|
rs142132127
|
|
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs)
|
rs1567206823
|
|
NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg)
|
rs515726112
|
|
NM_024675.4(PALB2):c.331G>A (p.Asp111Asn)
|
rs1597099556
|
|
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter)
|
rs1218512317
|
|
NM_024675.4(PALB2):c.3350+1G>A
|
rs864622192
|
|
NM_024675.4(PALB2):c.3350+2C>G
|
rs1555458171
|
|
NM_024675.4(PALB2):c.3350+4A>G
|
rs180177136
|
|
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)
|
rs515726117
|
|
NM_024675.4(PALB2):c.3367G>A (p.Val1123Met)
|
rs757118000
|
|
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.3418T>G (p.Trp1140Gly)
|
rs62625283
|
|
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs)
|
rs587776425
|
|
NM_024675.4(PALB2):c.3433G>T (p.Gly1145Cys)
|
rs180177137
|
|
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)
|
rs587776426
|
|
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter)
|
rs1597062038
|
|
NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter)
|
rs1597061983
|
|
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter)
|
rs773829275
|
|
NM_024675.4(PALB2):c.34GAG[1] (p.Glu13del)
|
rs745444171
|
|
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)
|
rs587776428
|
|
NM_024675.4(PALB2):c.3518C>A (p.Ala1173Asp)
|
rs146659762
|
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
rs118203998
|
|
NM_024675.4(PALB2):c.438_450del (p.Arg146fs)
|
rs2142443124
|
|
NM_024675.4(PALB2):c.43G>C (p.Glu15Gln)
|
|
|
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter)
|
rs587776407
|
|
NM_024675.4(PALB2):c.48+3G>C
|
|
|
NM_024675.4(PALB2):c.49-2A>G
|
|
|
NM_024675.4(PALB2):c.49-3C>A
|
|
|
NM_024675.4(PALB2):c.500_513del (p.Asp167fs)
|
rs876660719
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.514_517del (p.Ser172fs)
|
rs1555461765
|
|
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.57_58del (p.Lys20fs)
|
|
|
NM_024675.4(PALB2):c.625del (p.Ser209fs)
|
rs1597098739
|
|
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.670_671delinsAT (p.Pro224Ile)
|
|
|
NM_024675.4(PALB2):c.679G>A (p.Ala227Thr)
|
rs1555461678
|
|
NM_024675.4(PALB2):c.688G>T (p.Glu230Ter)
|
rs730881905
|
|
NM_024675.4(PALB2):c.697del (p.Val233fs)
|
rs180177090
|
|
NM_024675.4(PALB2):c.736A>T (p.Thr246Ser)
|
rs1555461659
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024675.4(PALB2):c.839del (p.Asn280fs)
|
rs1555461597
|
|
NM_024675.4(PALB2):c.83A>G (p.Tyr28Cys)
|
rs515726129
|
|
NM_024675.4(PALB2):c.885_886insG (p.Met296fs)
|
rs1597097936
|
|
NM_024675.4(PALB2):c.886dup (p.Met296fs)
|
rs587776408
|
|
NM_024675.4(PALB2):c.907C>T (p.Leu303Phe)
|
rs878855125
|
|
NM_024675.4(PALB2):c.931A>T (p.Lys311Ter)
|
rs1060499831
|
|
NM_024675.4(PALB2):c.93_94dup (p.Leu32fs)
|
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
NM_024675.4(PALB2):c.947C>T (p.Pro316Leu)
|
rs876658867
|
|
NM_024675.4(PALB2):c.953_954del (p.Ser318fs)
|
rs1060502800
|
|
NM_024675.4(PALB2):c.956del (p.Ser319fs)
|
|
|
NM_024675.4(PALB2):c.9G>T (p.Glu3Asp)
|
rs786202325
|
|
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs)
|
rs1555580957
|
|
NM_032043.3(BRIP1):c.1001C>G (p.Ala334Gly)
|
|
|
NM_032043.3(BRIP1):c.1009A>G (p.Ile337Val)
|
rs1365389773
|
|
NM_032043.3(BRIP1):c.100A>G (p.Arg34Gly)
|
rs2145852980
|
|
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)
|
rs373104267
|
|
NM_032043.3(BRIP1):c.1040T>C (p.Leu347Pro)
|
rs786201819
|
|
NM_032043.3(BRIP1):c.1048T>C (p.Cys350Arg)
|
rs876658173
|
|
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs)
|
rs1567831649
|
|
NM_032043.3(BRIP1):c.1078C>T (p.Gln360Ter)
|
rs2145334576
|
|
NM_032043.3(BRIP1):c.1099T>C (p.Cys367Arg)
|
rs1567831592
|
|
NM_032043.3(BRIP1):c.1109_1110dup (p.Tyr371fs)
|
rs1567831477
|
|
NM_032043.3(BRIP1):c.1121A>G (p.Asp374Gly)
|
rs1603343117
|
|
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter)
|
rs1028347439
|
|
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs)
|
rs587780224
|
|
NM_032043.3(BRIP1):c.1132del (p.Arg378fs)
|
|
|
NM_032043.3(BRIP1):c.1139G>T (p.Ser380Ile)
|
rs569696977
|
|
NM_032043.3(BRIP1):c.1140+5G>C
|
|
|
NM_032043.3(BRIP1):c.1142T>C (p.Met381Thr)
|
rs1060501741
|
|
NM_032043.3(BRIP1):c.1165G>A (p.Val389Ile)
|
rs587780825
|
|
NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs)
|
rs730881647
|
|
NM_032043.3(BRIP1):c.1236del (p.Val413fs)
|
rs863224525
|
|
NM_032043.3(BRIP1):c.1238T>C (p.Val413Ala)
|
rs45576134
|
|
NM_032043.3(BRIP1):c.1251T>A (p.Phe417Leu)
|
rs2077949494
|
|
NM_032043.3(BRIP1):c.1255C>G (p.Arg419Gly)
|
rs150624408
|
|
NM_032043.3(BRIP1):c.1256G>C (p.Arg419Pro)
|
|
|
NM_032043.3(BRIP1):c.1271G>A (p.Ser424Asn)
|
rs1354610577
|
|
NM_032043.3(BRIP1):c.1283A>C (p.Asn428Thr)
|
rs779237423
|
|
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs)
|
rs1064794202
|
|
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
|
|
|
NM_032043.3(BRIP1):c.1292G>A (p.Arg431Lys)
|
rs1328630889
|
|
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)
|
rs587781292
|
|
NM_032043.3(BRIP1):c.1340+5G>C
|
rs869312791
|
|
NM_032043.3(BRIP1):c.1341-3C>G
|
rs864622597
|
|
NM_032043.3(BRIP1):c.1341-6T>A
|
|
|
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter)
|
rs1555605955
|
|
NM_032043.3(BRIP1):c.1366C>G (p.Leu456Val)
|
|
|
NM_032043.3(BRIP1):c.1369G>A (p.Val457Ile)
|
rs748221377
|
|
NM_032043.3(BRIP1):c.1373A>G (p.Glu458Gly)
|
rs1555605942
|
|
NM_032043.3(BRIP1):c.141del (p.Thr48fs)
|
rs587782065
|
|
NM_032043.3(BRIP1):c.1430T>C (p.Leu477Ser)
|
|
|
NM_032043.3(BRIP1):c.1470G>T (p.Leu490Phe)
|
rs1567824994
|
|
NM_032043.3(BRIP1):c.1473+1G>A
|
rs748274524
|
|
NM_032043.3(BRIP1):c.1474-1G>A
|
rs1555603638
|
|
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter)
|
rs1060501739
|
|
NM_032043.3(BRIP1):c.1510del (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.1511T>C (p.Ile504Thr)
|
rs755306832
|
|
NM_032043.3(BRIP1):c.1543del (p.Glu515fs)
|
rs1064793812
|
|
NM_032043.3(BRIP1):c.1580T>G (p.Leu527Arg)
|
rs1603336934
|
|
NM_032043.3(BRIP1):c.158_159delinsTT (p.Ser53Ile)
|
rs786202417
|
|
NM_032043.3(BRIP1):c.1591T>G (p.Phe531Val)
|
rs4988350
|
|
NM_032043.3(BRIP1):c.1593dup (p.Met532fs)
|
|
|
NM_032043.3(BRIP1):c.1628+1G>C
|
rs1438975574
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
NM_032043.3(BRIP1):c.1652C>T (p.Ala551Val)
|
rs375246789
|
|
NM_032043.3(BRIP1):c.1660_1661del (p.Gln554fs)
|
|
|
NM_032043.3(BRIP1):c.1676C>T (p.Thr559Ile)
|
rs876658266
|
|
NM_032043.3(BRIP1):c.1686T>G (p.Ile562Met)
|
|
|
NM_032043.3(BRIP1):c.1697A>G (p.Asp566Gly)
|
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
NM_032043.3(BRIP1):c.1706G>T (p.Gly569Val)
|
rs373228183
|
|
NM_032043.3(BRIP1):c.1708TTG[1] (p.Leu571del)
|
rs754566378
|
|
NM_032043.3(BRIP1):c.1729A>T (p.Lys577Ter)
|
|
|
NM_032043.3(BRIP1):c.1760A>T (p.His587Leu)
|
rs876660646
|
|
NM_032043.3(BRIP1):c.1770del (p.Trp592fs)
|
rs2145091141
|
|
NM_032043.3(BRIP1):c.180_190del (p.Leu61fs)
|
|
|
NM_032043.3(BRIP1):c.1825A>G (p.Thr609Ala)
|
rs189758577
|
|
NM_032043.3(BRIP1):c.1836G>T (p.Leu612Phe)
|
rs1464898721
|
|
NM_032043.3(BRIP1):c.1838C>T (p.Thr613Ile)
|
rs864622345
|
|
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)
|
rs587781985
|
|
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu)
|
rs587781321
|
|
NM_032043.3(BRIP1):c.1935+4_1935+7del
|
rs766199221
|
|
NM_032043.3(BRIP1):c.1936-5_1936-4delinsGT
|
rs587781481
|
|
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.1970del (p.Gly657fs)
|
rs760782298
|
|
NM_032043.3(BRIP1):c.1978C>T (p.Leu660Phe)
|
rs1060501746
|
|
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)
|
rs775537066
|
|
NM_032043.3(BRIP1):c.2012A>G (p.Glu671Gly)
|
rs587778135
|
|
NM_032043.3(BRIP1):c.2017C>T (p.Gln673Ter)
|
|
|
NM_032043.3(BRIP1):c.2018A>G (p.Gln673Arg)
|
rs786203619
|
|
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)
|
rs587778134
|
|
NM_032043.3(BRIP1):c.204_205+1delinsAGT
|
|
|
NM_032043.3(BRIP1):c.2097+1G>C
|
rs786202941
|
|
NM_032043.3(BRIP1):c.2103del (p.Glu702fs)
|
rs2144701568
|
|
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs)
|
rs786203384
|
|
NM_032043.3(BRIP1):c.210del (p.Lys70fs)
|
rs1555617925
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
NM_032043.3(BRIP1):c.2126T>C (p.Leu709Pro)
|
rs1567781600
|
|
NM_032043.3(BRIP1):c.2132C>T (p.Thr711Ile)
|
|
|
NM_032043.3(BRIP1):c.2133del (p.Gly712fs)
|
rs1567781543
|
|
NM_032043.3(BRIP1):c.2134G>A (p.Gly712Ser)
|
|
|
NM_032043.3(BRIP1):c.2143_2163delinsTTCT (p.His715fs)
|
|
|
NM_032043.3(BRIP1):c.2158G>A (p.Val720Met)
|
rs1555591459
|
|
NM_032043.3(BRIP1):c.2177A>G (p.Glu726Gly)
|
|
|
NM_032043.3(BRIP1):c.2249G>T (p.Gly750Val)
|
rs764061653
|
|
NM_032043.3(BRIP1):c.2253_2254del (p.Lys752fs)
|
rs1555591308
|
|
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)
|
rs730881649
|
|
NM_032043.3(BRIP1):c.2258-3A>G
|
rs786203561
|
|
NM_032043.3(BRIP1):c.2282G>C (p.Cys761Ser)
|
rs1567779745
|
|
NM_032043.3(BRIP1):c.2301G>C (p.Glu767Asp)
|
rs369434185
|
|
NM_032043.3(BRIP1):c.2325T>G (p.Asn775Lys)
|
rs375146450
|
|
NM_032043.3(BRIP1):c.2329C>T (p.Arg777Cys)
|
rs768555161
|
|
NM_032043.3(BRIP1):c.2339T>G (p.Ile780Arg)
|
rs1467232177
|
|
NM_032043.3(BRIP1):c.2379+1G>T
|
rs1555590286
|
|
NM_032043.3(BRIP1):c.2380-20A>G
|
rs977667900
|
|
NM_032043.3(BRIP1):c.2380-29A>G
|
|
|
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.2411A>G (p.His804Arg)
|
rs777277034
|
|
NM_032043.3(BRIP1):c.2422A>G (p.Arg808Gly)
|
rs587780237
|
|
NM_032043.3(BRIP1):c.2426G>T (p.Gly809Val)
|
rs1555580886
|
|
NM_032043.3(BRIP1):c.243del (p.Val82fs)
|
rs1064794890
|
|
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)
|
rs786203898
|
|
NM_032043.3(BRIP1):c.2492+1G>C
|
rs1567755539
|
|
NM_032043.3(BRIP1):c.2492+1G>T
|
|
|
NM_032043.3(BRIP1):c.2492_2492+5del
|
rs1603293306
|
|
NM_032043.3(BRIP1):c.2493-1G>A
|
rs786203451
|
|
NM_032043.3(BRIP1):c.2493-2A>G
|
rs1603280621
|
|
NM_032043.3(BRIP1):c.2498T>C (p.Ile833Thr)
|
rs876660936
|
|
NM_032043.3(BRIP1):c.2536G>C (p.Asp846His)
|
rs876659409
|
|
NM_032043.3(BRIP1):c.2540A>T (p.Asp847Val)
|
|
|
NM_032043.3(BRIP1):c.2542C>G (p.Arg848Gly)
|
rs45572934
|
|
NM_032043.3(BRIP1):c.2549G>A (p.Arg850Lys)
|
rs2061477480
|
|
NM_032043.3(BRIP1):c.2575+6A>G
|
rs1555574710
|
|
NM_032043.3(BRIP1):c.2576-1G>T
|
rs587782539
|
|
NM_032043.3(BRIP1):c.2576-2A>G
|
rs869312763
|
|
NM_032043.3(BRIP1):c.2576G>A (p.Gly859Glu)
|
|
|
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs)
|
rs1567732136
|
|
NM_032043.3(BRIP1):c.258_269del (p.Cys87_Cys90del)
|
rs730881648
|
|
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)
|
rs1060501766
|
|
NM_032043.3(BRIP1):c.2647G>A (p.Glu883Lys)
|
rs2061359691
|
|
NM_032043.3(BRIP1):c.2650T>A (p.Phe884Ile)
|
rs587780243
|
|
NM_032043.3(BRIP1):c.2662C>G (p.His888Asp)
|
rs757668121
|
|
NM_032043.3(BRIP1):c.2671del (p.Val891fs)
|
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
NM_032043.3(BRIP1):c.2725C>G (p.Leu909Val)
|
rs587781853
|
|
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
|
|
|
NM_032043.3(BRIP1):c.2792C>T (p.Pro931Leu)
|
rs932408573
|
|
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)
|
rs140233356
|
|
NM_032043.3(BRIP1):c.2831A>G (p.Gln944Arg)
|
rs148232408
|
|
NM_032043.3(BRIP1):c.2870C>T (p.Pro957Leu)
|
rs786203077
|
|
NM_032043.3(BRIP1):c.2893A>G (p.Arg965Gly)
|
|
|
NM_032043.3(BRIP1):c.2899G>A (p.Glu967Lys)
|
rs1305928655
|
|
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
|
|
|
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs)
|
rs763009188
|
|
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)
|
rs774684620
|
|
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs)
|
rs774684620
|
|
NM_032043.3(BRIP1):c.2990C>G (p.Thr997Arg)
|
|
|
NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile)
|
rs749978235
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)
|
rs786203717
|
|
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)
|
rs763443434
|
|
NM_032043.3(BRIP1):c.3005G>C (p.Trp1002Ser)
|
|
|
NM_032043.3(BRIP1):c.3076T>C (p.Ser1026Pro)
|
rs756712872
|
|
NM_032043.3(BRIP1):c.3083A>G (p.Asn1028Ser)
|
rs1060501762
|
|
NM_032043.3(BRIP1):c.3086del (p.Ser1029fs)
|
|
|
NM_032043.3(BRIP1):c.3118A>C (p.Lys1040Gln)
|
rs876659428
|
|
NM_032043.3(BRIP1):c.316C>A (p.Arg106Ser)
|
rs587780247
|
|
NM_032043.3(BRIP1):c.3199T>C (p.Cys1067Arg)
|
rs878855153
|
|
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)
|
rs748598593
|
|
NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter)
|
rs777213170
|
|
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer)
|
rs1603275367
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
|
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs)
|
rs771654971
|
|
NM_032043.3(BRIP1):c.3271C>T (p.His1091Tyr)
|
rs1555572732
|
|
NM_032043.3(BRIP1):c.3292_3302delinsTTGTCTCTGGATCCAG (p.Ala1098fs)
|
rs1555572707
|
|
NM_032043.3(BRIP1):c.3311A>T (p.Glu1104Val)
|
rs1567728360
|
|
NM_032043.3(BRIP1):c.3367A>G (p.Thr1123Ala)
|
rs754056526
|
|
NM_032043.3(BRIP1):c.3375AGA[1] (p.Glu1126del)
|
|
|
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)
|
rs778664039
|
|
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs)
|
rs756853672
|
|
NM_032043.3(BRIP1):c.3412G>T (p.Asp1138Tyr)
|
rs587780249
|
|
NM_032043.3(BRIP1):c.3425C>G (p.Thr1142Arg)
|
rs1279318199
|
|
NM_032043.3(BRIP1):c.3436A>G (p.Lys1146Glu)
|
rs786202247
|
|
NM_032043.3(BRIP1):c.3461_3462delinsAAG (p.Arg1154fs)
|
|
|
NM_032043.3(BRIP1):c.3508C>T (p.Leu1170Phe)
|
|
|
NM_032043.3(BRIP1):c.3662T>G (p.Leu1221Arg)
|
rs778805688
|
|
NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val)
|
rs876659290
|
|
NM_032043.3(BRIP1):c.3701T>G (p.Phe1234Cys)
|
rs587778137
|
|
NM_032043.3(BRIP1):c.3737C>G (p.Pro1246Arg)
|
|
|
NM_032043.3(BRIP1):c.380-14A>G
|
|
|
NM_032043.3(BRIP1):c.394dup (p.Thr132fs)
|
rs587781416
|
|
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.462dup (p.Gln155fs)
|
rs1567868477
|
|
NM_032043.3(BRIP1):c.465A>G (p.Gln155=)
|
rs876659453
|
|
NM_032043.3(BRIP1):c.466G>T (p.Val156Leu)
|
rs876659373
|
|
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)
|
rs876660613
|
|
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs)
|
rs1555616143
|
|
NM_032043.3(BRIP1):c.502C>A (p.Gln168Lys)
|
rs748211848
|
|
NM_032043.3(BRIP1):c.507+1G>T
|
rs2145761239
|
|
NM_032043.3(BRIP1):c.507G>A (p.Gln169=)
|
rs876660937
|
|
NM_032043.3(BRIP1):c.508-1G>C
|
rs864622277
|
|
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs)
|
rs1567878148
|
|
NM_032043.3(BRIP1):c.589T>C (p.Ser197Pro)
|
rs530897769
|
|
NM_032043.3(BRIP1):c.604A>G (p.Ile202Val)
|
rs778275257
|
|
NM_032043.3(BRIP1):c.611_613del (p.Ser204del)
|
rs1060501731
|
|
NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg)
|
rs748912293
|
|
NM_032043.3(BRIP1):c.627dup (p.Pro210fs)
|
|
|
NM_032043.3(BRIP1):c.629C>A (p.Pro210His)
|
rs140097800
|
|
NM_032043.3(BRIP1):c.646del (p.Arg216fs)
|
rs1603347042
|
|
NM_032043.3(BRIP1):c.686C>T (p.Ser229Leu)
|
|
|
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)
|
rs1555618716
|
|
NM_032043.3(BRIP1):c.700A>G (p.Lys234Glu)
|
rs1060501780
|
|
NM_032043.3(BRIP1):c.734A>G (p.Lys245Arg)
|
rs1064795594
|
|
NM_032043.3(BRIP1):c.755C>T (p.Thr252Ile)
|
rs1567838124
|
|
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs)
|
rs2078112057
|
|
NM_032043.3(BRIP1):c.770C>T (p.Ala257Val)
|
rs1555609260
|
|
NM_032043.3(BRIP1):c.777dup (p.Thr260fs)
|
rs1555609254
|
|
NM_032043.3(BRIP1):c.804T>G (p.Tyr268Ter)
|
rs587782514
|
|
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
|
|
|
NM_032043.3(BRIP1):c.842A>G (p.His281Arg)
|
|
|
NM_032043.3(BRIP1):c.885T>G (p.Asn295Lys)
|
|
|
NM_032043.3(BRIP1):c.888G>C (p.Glu296Asp)
|
rs876658249
|
|
NM_032043.3(BRIP1):c.890del (p.Lys297fs)
|
rs786202610
|
|
NM_032043.3(BRIP1):c.895A>G (p.Met299Val)
|
rs1242769076
|
|
NM_032043.3(BRIP1):c.929G>A (p.Cys310Tyr)
|
rs1567832184
|
|
NM_032043.3(BRIP1):c.93+1G>T
|
rs587782047
|
|
NM_032043.3(BRIP1):c.93+2del
|
|
|
NM_032043.3(BRIP1):c.93+4A>T
|
|
|
NM_032043.3(BRIP1):c.93+4_93+7del
|
rs1224034842
|
|
NM_032043.3(BRIP1):c.93+5G>A
|
rs730881629
|
|
PALB2:c.2515-1G>T
|
rs587776417
|
|