NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
|
rs16941
|
0.29115
|
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg)
|
rs152451
|
0.12980
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=)
|
rs45516100
|
0.02529
|
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)
|
rs45532440
|
0.02171
|
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu)
|
rs57605939
|
0.02101
|
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg)
|
rs2228456
|
0.01986
|
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)
|
rs45551636
|
0.01717
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser)
|
rs28997576
|
0.01443
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00895
|
NM_024675.4(PALB2):c.925A>G (p.Ile309Val)
|
rs3809683
|
0.00860
|
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)
|
rs61754118
|
0.00745
|
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)
|
rs3738888
|
0.00668
|
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)
|
rs138789658
|
0.00530
|
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)
|
rs17886163
|
0.00514
|
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val)
|
rs111536363
|
0.00480
|
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)
|
rs45624036
|
0.00449
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00408
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_024675.4(PALB2):c.1572A>G (p.Ser524=)
|
rs45472400
|
0.00312
|
NM_024675.4(PALB2):c.1419A>C (p.Pro473=)
|
rs62625275
|
0.00309
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00297
|
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)
|
rs45568339
|
0.00287
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg)
|
rs34969857
|
0.00212
|
NM_024675.4(PALB2):c.1810C>T (p.Leu604=)
|
rs144015319
|
0.00202
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
NM_024675.4(PALB2):c.1606C>T (p.Leu536=)
|
rs151162255
|
0.00193
|
NM_007194.4(CHEK2):c.1407G>A (p.Val469=)
|
rs17881378
|
0.00190
|
NM_024675.4(PALB2):c.2256A>G (p.Gly752=)
|
rs147120218
|
0.00184
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00172
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00164
|
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn)
|
rs139555085
|
0.00160
|
NM_032043.3(BRIP1):c.2061G>C (p.Val687=)
|
rs112414873
|
0.00153
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00149
|
NM_024675.4(PALB2):c.2742C>T (p.Phe914=)
|
rs115759702
|
0.00143
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00128
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00127
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_024675.4(PALB2):c.2834+18A>T
|
rs114491776
|
0.00113
|
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)
|
rs45439097
|
0.00109
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00101
|
NM_024675.4(PALB2):c.2365C>T (p.Leu789=)
|
rs145805054
|
0.00098
|
NM_024675.4(PALB2):c.909C>T (p.Leu303=)
|
rs145788619
|
0.00098
|
NM_000465.4(BARD1):c.90T>A (p.Gly30=)
|
rs150354152
|
0.00084
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
NM_032043.3(BRIP1):c.195A>G (p.Gln65=)
|
rs141436143
|
0.00076
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
|
rs145855459
|
0.00066
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00063
|
NM_024675.4(PALB2):c.2996+17T>C
|
rs180177128
|
0.00060
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00056
|
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
|
rs116952709
|
0.00055
|
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)
|
rs138828590
|
0.00054
|
NM_007194.4(CHEK2):c.793-11G>A
|
rs5997387
|
0.00054
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_024675.4(PALB2):c.2749-18C>T
|
rs182194007
|
0.00053
|
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu)
|
rs150390726
|
0.00049
|
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)
|
rs80356892
|
0.00046
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00043
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00042
|
NM_000465.4(BARD1):c.348T>C (p.His116=)
|
rs139934362
|
0.00039
|
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00033
|
NM_000051.4(ATM):c.103C>A (p.Arg35=)
|
rs55861249
|
0.00032
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)
|
rs55870064
|
0.00030
|
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)
|
rs149827260
|
0.00030
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00029
|
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)
|
rs141921797
|
0.00029
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00029
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00028
|
NM_000465.4(BARD1):c.346C>T (p.His116Tyr)
|
rs144856889
|
0.00027
|
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)
|
rs3738885
|
0.00027
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00025
|
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)
|
rs145009419
|
0.00025
|
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)
|
rs200451612
|
0.00025
|
NM_007194.4(CHEK2):c.444+19T>C
|
rs200501745
|
0.00024
|
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)
|
rs146243469
|
0.00022
|
NM_000465.4(BARD1):c.1347A>G (p.Gln449=)
|
rs373257776
|
0.00021
|
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu)
|
rs367890377
|
0.00021
|
NM_024675.4(PALB2):c.1281T>C (p.Ala427=)
|
rs138697796
|
0.00021
|
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)
|
rs45594034
|
0.00021
|
NM_000465.4(BARD1):c.308G>A (p.Ser103Asn)
|
rs145629242
|
0.00020
|
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr)
|
rs75023630
|
0.00020
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00020
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr)
|
rs145812395
|
0.00019
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
NM_000465.4(BARD1):c.57G>A (p.Glu19=)
|
rs730881406
|
0.00019
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)
|
rs35962982
|
0.00018
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
0.00018
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)
|
rs376727038
|
0.00017
|
NM_000465.4(BARD1):c.2082C>T (p.Leu694=)
|
rs139620052
|
0.00017
|
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)
|
rs373876101
|
0.00017
|
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val)
|
rs141458731
|
0.00017
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00016
|
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)
|
rs183489969
|
0.00016
|
NM_032043.3(BRIP1):c.380-5A>G
|
rs587782131
|
0.00016
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00015
|
NM_000465.4(BARD1):c.1554C>T (p.Ala518=)
|
rs139612775
|
0.00015
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00015
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_024675.4(PALB2):c.1794G>A (p.Leu598=)
|
rs182494675
|
0.00015
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
NM_000465.4(BARD1):c.279A>G (p.Gln93=)
|
rs370000575
|
0.00014
|
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=)
|
rs587780890
|
0.00014
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
NM_024675.4(PALB2):c.2586+10A>G
|
rs373321719
|
0.00014
|
NM_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.8156G>A (p.Arg2719His)
|
rs55982963
|
0.00013
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
NM_000465.4(BARD1):c.1203T>C (p.Ser401=)
|
rs370553043
|
0.00013
|
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser)
|
rs138593305
|
0.00013
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
NM_024675.4(PALB2):c.232G>A (p.Val78Ile)
|
rs515726085
|
0.00013
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
NM_024675.4(PALB2):c.48+7G>C
|
rs190626072
|
0.00013
|
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)
|
rs145667735
|
0.00012
|
NM_000051.4(ATM):c.2346A>G (p.Leu782=)
|
rs730881285
|
0.00011
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
NM_000465.4(BARD1):c.1152C>T (p.Ser384=)
|
rs368291318
|
0.00011
|
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)
|
rs201140528
|
0.00011
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
NM_024675.4(PALB2):c.1455T>G (p.Thr485=)
|
rs566105533
|
0.00011
|
NM_032043.3(BRIP1):c.249A>G (p.Gln83=)
|
rs45528833
|
0.00011
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00010
|
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile)
|
rs587780634
|
0.00010
|
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)
|
rs377648506
|
0.00010
|
NM_000465.4(BARD1):c.1568+15G>T
|
rs145936354
|
0.00010
|
NM_000465.4(BARD1):c.93C>T (p.Arg31=)
|
rs778803692
|
0.00010
|
NM_007194.4(CHEK2):c.1095+19G>A
|
rs200020484
|
0.00010
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
NM_024675.4(PALB2):c.1641C>T (p.Thr547=)
|
rs564514783
|
0.00010
|
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)
|
rs528541334
|
0.00010
|
NM_000051.4(ATM):c.133C>T (p.Arg45Trp)
|
rs3218684
|
0.00009
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
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_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
NM_000465.4(BARD1):c.1059C>G (p.Pro353=)
|
rs368649242
|
0.00009
|
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)
|
rs146946984
|
0.00009
|
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu)
|
rs149262370
|
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_024675.4(PALB2):c.12T>C (p.Pro4=)
|
rs567706422
|
0.00009
|
NM_024675.4(PALB2):c.1431C>T (p.Thr477=)
|
rs515726068
|
0.00009
|
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)
|
rs515726072
|
0.00009
|
NM_024675.4(PALB2):c.1623G>A (p.Arg541=)
|
rs745665968
|
0.00009
|
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)
|
rs377626805
|
0.00009
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
NM_024675.4(PALB2):c.344G>T (p.Gly115Val)
|
rs145598272
|
0.00009
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
NM_007194.4(CHEK2):c.*7T>C
|
rs121908710
|
0.00008
|
NM_007194.4(CHEK2):c.1259+8A>G
|
rs368388249
|
0.00008
|
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro)
|
rs273900712
|
0.00008
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
rs878855107
|
0.00008
|
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala)
|
rs376619846
|
0.00008
|
NM_024675.4(PALB2):c.949A>C (p.Thr317Pro)
|
rs587780223
|
0.00008
|
NM_000051.4(ATM):c.2220A>G (p.Ala740=)
|
rs56353517
|
0.00007
|
NM_000051.4(ATM):c.2778A>G (p.Lys926=)
|
rs372569168
|
0.00007
|
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)
|
rs587778075
|
0.00007
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)
|
rs202208861
|
0.00007
|
NM_000465.4(BARD1):c.119C>T (p.Ala40Val)
|
rs71579841
|
0.00007
|
NM_000465.4(BARD1):c.1240A>T (p.Met414Leu)
|
rs759601398
|
0.00007
|
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)
|
rs587781976
|
0.00007
|
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)
|
rs377227840
|
0.00007
|
NM_000465.4(BARD1):c.687T>C (p.Phe229=)
|
rs756803590
|
0.00007
|
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)
|
rs121908706
|
0.00007
|
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu)
|
rs201084748
|
0.00007
|
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)
|
rs17883172
|
0.00007
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00007
|
NM_024675.4(PALB2):c.1935G>A (p.Glu645=)
|
rs141707455
|
0.00007
|
NM_024675.4(PALB2):c.2032C>T (p.Leu678=)
|
rs376189676
|
0.00007
|
NM_024675.4(PALB2):c.2100A>T (p.Ser700=)
|
rs757145884
|
0.00007
|
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)
|
rs730881887
|
0.00007
|
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser)
|
rs45543843
|
0.00007
|
NM_024675.4(PALB2):c.768C>T (p.Ser256=)
|
rs45487491
|
0.00007
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)
|
rs147515380
|
0.00006
|
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)
|
rs148705269
|
0.00006
|
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)
|
rs55723361
|
0.00006
|
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)
|
rs3218708
|
0.00006
|
NM_000051.4(ATM):c.3588A>G (p.Lys1196=)
|
rs376524625
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000051.4(ATM):c.7521C>T (p.Asp2507=)
|
rs751234924
|
0.00006
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
NM_000465.4(BARD1):c.1084T>G (p.Cys362Gly)
|
rs141351035
|
0.00006
|
NM_000465.4(BARD1):c.1585C>T (p.Arg529Trp)
|
rs375515606
|
0.00006
|
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)
|
rs753479021
|
0.00006
|
NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn)
|
rs376256852
|
0.00006
|
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)
|
rs200359745
|
0.00006
|
NM_007194.4(CHEK2):c.1023C>T (p.Asn341=)
|
rs377668478
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_007194.4(CHEK2):c.847-17T>C
|
rs199780411
|
0.00006
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser)
|
rs200048921
|
0.00006
|
NM_024675.4(PALB2):c.1273G>A (p.Val425Met)
|
rs576081828
|
0.00006
|
NM_024675.4(PALB2):c.2506G>C (p.Val836Leu)
|
rs536644825
|
0.00006
|
NM_024675.4(PALB2):c.765T>C (p.Asp255=)
|
rs45465299
|
0.00006
|
NM_024675.4(PALB2):c.929G>A (p.Ser310Asn)
|
rs370887726
|
0.00006
|
NM_032043.3(BRIP1):c.1356C>T (p.Asn452=)
|
rs730881640
|
0.00006
|
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=)
|
rs374362388
|
0.00006
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)
|
rs587782397
|
0.00005
|
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)
|
rs587782195
|
0.00005
|
NM_000051.4(ATM):c.7983T>C (p.Asp2661=)
|
rs143972422
|
0.00005
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00005
|
NM_000051.4(ATM):c.9031A>G (p.Met3011Val)
|
rs372795527
|
0.00005
|
NM_000465.4(BARD1):c.-4G>A
|
rs761863671
|
0.00005
|
NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp)
|
rs371147849
|
0.00005
|
NM_000465.4(BARD1):c.1353A>T (p.Gly451=)
|
rs369564500
|
0.00005
|
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala)
|
rs587780017
|
0.00005
|
NM_000465.4(BARD1):c.1593C>T (p.Val531=)
|
rs564894014
|
0.00005
|
NM_000465.4(BARD1):c.1734T>A (p.Ser578=)
|
rs373449212
|
0.00005
|
NM_000465.4(BARD1):c.2172G>T (p.Ala724=)
|
rs143331809
|
0.00005
|
NM_000465.4(BARD1):c.709C>G (p.Gln237Glu)
|
rs587780035
|
0.00005
|
NM_000465.4(BARD1):c.738A>G (p.Pro246=)
|
rs587780859
|
0.00005
|
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)
|
rs200059956
|
0.00005
|
NM_000465.4(BARD1):c.946T>G (p.Leu316Val)
|
rs587782325
|
0.00005
|
NM_007194.4(CHEK2):c.15G>A (p.Ser5=)
|
rs145183886
|
0.00005
|
NM_007194.4(CHEK2):c.633T>C (p.Val211=)
|
rs1555924460
|
0.00005
|
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)
|
rs146434474
|
0.00005
|
NM_024675.4(PALB2):c.1637T>C (p.Val546Ala)
|
rs148647206
|
0.00005
|
NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg)
|
rs142343372
|
0.00005
|
NM_024675.4(PALB2):c.2442G>A (p.Glu814=)
|
rs140776736
|
0.00005
|
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu)
|
rs180177125
|
0.00005
|
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp)
|
rs147045425
|
0.00005
|
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=)
|
rs45565738
|
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_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00005
|
NM_032043.3(BRIP1):c.1629-3T>C
|
rs587780828
|
0.00005
|
NM_032043.3(BRIP1):c.297C>T (p.Asp99=)
|
rs201617644
|
0.00005
|
NM_000051.4(ATM):c.202A>G (p.Ile68Val)
|
rs35389822
|
0.00004
|
NM_000051.4(ATM):c.2610C>T (p.Asn870=)
|
rs587780618
|
0.00004
|
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00004
|
NM_000051.4(ATM):c.3468G>A (p.Thr1156=)
|
rs148358896
|
0.00004
|
NM_000051.4(ATM):c.4466G>A (p.Arg1489His)
|
rs201594549
|
0.00004
|
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00004
|
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)
|
rs3218670
|
0.00004
|
NM_000051.4(ATM):c.6333T>C (p.His2111=)
|
rs55756349
|
0.00004
|
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)
|
rs376824528
|
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_000465.4(BARD1):c.1473G>A (p.Gly491=)
|
rs151080730
|
0.00004
|
NM_000465.4(BARD1):c.160A>G (p.Thr54Ala)
|
rs200254470
|
0.00004
|
NM_000465.4(BARD1):c.1788A>G (p.Lys596=)
|
rs777084777
|
0.00004
|
NM_000465.4(BARD1):c.1904-3C>G
|
rs876660360
|
0.00004
|
NM_000465.4(BARD1):c.253G>T (p.Val85Leu)
|
rs370359540
|
0.00004
|
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)
|
rs142864491
|
0.00004
|
NM_000465.4(BARD1):c.365-7C>T
|
rs745929983
|
0.00004
|
NM_000465.4(BARD1):c.581G>A (p.Arg194Lys)
|
rs181748854
|
0.00004
|
NM_000465.4(BARD1):c.644A>G (p.Asn215Ser)
|
rs774929973
|
0.00004
|
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr)
|
rs146223579
|
0.00004
|
NM_000465.4(BARD1):c.783A>G (p.Leu261=)
|
rs201862973
|
0.00004
|
NM_000465.4(BARD1):c.97G>C (p.Ala33Pro)
|
rs587782465
|
0.00004
|
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=)
|
rs201544715
|
0.00004
|
NM_007194.4(CHEK2):c.1065G>A (p.Leu355=)
|
rs938389349
|
0.00004
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
NM_007194.4(CHEK2):c.150C>T (p.Ser50=)
|
rs967317594
|
0.00004
|
NM_007194.4(CHEK2):c.400G>C (p.Asp134His)
|
rs372874441
|
0.00004
|
NM_007194.4(CHEK2):c.847-10C>G
|
rs745745105
|
0.00004
|
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys)
|
rs373483056
|
0.00004
|
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln)
|
rs201035780
|
0.00004
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
rs537258442
|
0.00004
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
0.00004
|
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)
|
rs377085677
|
0.00004
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
rs370422990
|
0.00004
|
NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr)
|
rs756116550
|
0.00004
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
NM_024675.4(PALB2):c.2067G>A (p.Ser689=)
|
rs371149159
|
0.00004
|
NM_024675.4(PALB2):c.2082A>G (p.Thr694=)
|
rs781440401
|
0.00004
|
NM_024675.4(PALB2):c.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.3252G>A (p.Ser1084=)
|
rs141570833
|
0.00004
|
NM_024675.4(PALB2):c.339A>C (p.Pro113=)
|
rs376182266
|
0.00004
|
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn)
|
rs778309339
|
0.00004
|
NM_024675.4(PALB2):c.900A>G (p.Thr300=)
|
rs771660444
|
0.00004
|
NM_032043.3(BRIP1):c.3051G>A (p.Pro1017=)
|
rs776990704
|
0.00004
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
NM_000051.4(ATM):c.1368A>G (p.Leu456=)
|
rs750579940
|
0.00003
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000051.4(ATM):c.2639-384A>G
|
rs1131691154
|
0.00003
|
NM_000051.4(ATM):c.2697C>T (p.Asp899=)
|
rs786202978
|
0.00003
|
NM_000051.4(ATM):c.2836A>G (p.Met946Val)
|
rs587781992
|
0.00003
|
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)
|
rs370282831
|
0.00003
|
NM_000051.4(ATM):c.3354A>G (p.Thr1118=)
|
rs377316982
|
0.00003
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00003
|
NM_000051.4(ATM):c.649A>G (p.Ile217Val)
|
rs547045780
|
0.00003
|
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp)
|
rs730881311
|
0.00003
|
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys)
|
rs730881383
|
0.00003
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00003
|
NM_000051.4(ATM):c.7999A>G (p.Met2667Val)
|
rs34099398
|
0.00003
|
NM_000051.4(ATM):c.8100A>G (p.Lys2700=)
|
rs778601472
|
0.00003
|
NM_000051.4(ATM):c.8596C>G (p.Leu2866Val)
|
rs368666328
|
0.00003
|
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile)
|
rs201032007
|
0.00003
|
NM_000465.4(BARD1):c.1052C>T (p.Thr351Met)
|
rs767208122
|
0.00003
|
NM_000465.4(BARD1):c.1067A>T (p.Asn356Ile)
|
rs577834428
|
0.00003
|
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg)
|
rs878853996
|
0.00003
|
NM_000465.4(BARD1):c.1533G>A (p.Lys511=)
|
rs371785856
|
0.00003
|
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn)
|
rs370771157
|
0.00003
|
NM_000465.4(BARD1):c.1678-18C>G
|
rs376045331
|
0.00003
|
NM_000465.4(BARD1):c.1904-5G>A
|
rs376639978
|
0.00003
|
NM_000465.4(BARD1):c.2160C>G (p.Val720=)
|
rs137888190
|
0.00003
|
NM_000465.4(BARD1):c.2179G>A (p.Asp727Asn)
|
rs730881424
|
0.00003
|
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter)
|
rs879253880
|
0.00003
|
NM_000465.4(BARD1):c.2280G>A (p.Ser760=)
|
rs749959440
|
0.00003
|
NM_000465.4(BARD1):c.48C>T (p.Ser16=)
|
rs770753803
|
0.00003
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
NM_000465.4(BARD1):c.729T>C (p.Cys243=)
|
rs761986980
|
0.00003
|
NM_007194.4(CHEK2):c.1323C>T (p.Thr441=)
|
rs753839004
|
0.00003
|
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)
|
rs730881700
|
0.00003
|
NM_007194.4(CHEK2):c.1563G>A (p.Arg521=)
|
rs761278013
|
0.00003
|
NM_007194.4(CHEK2):c.1581C>T (p.Ala527=)
|
rs781593101
|
0.00003
|
NM_007194.4(CHEK2):c.1623T>C (p.Ala541=)
|
rs773670297
|
0.00003
|
NM_007194.4(CHEK2):c.534A>G (p.Gly178=)
|
rs554465930
|
0.00003
|
NM_007194.4(CHEK2):c.651A>G (p.Arg217=)
|
rs774245273
|
0.00003
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)
|
rs141776984
|
0.00003
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
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.1189A>T (p.Thr397Ser)
|
rs367578415
|
0.00003
|
NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala)
|
rs545119348
|
0.00003
|
NM_024675.4(PALB2):c.1272C>T (p.Ala424=)
|
rs754720030
|
0.00003
|
NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile)
|
rs767926590
|
0.00003
|
NM_024675.4(PALB2):c.1647C>A (p.His549Gln)
|
rs747842085
|
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.1839G>A (p.Gln613=)
|
rs199682414
|
0.00003
|
NM_024675.4(PALB2):c.1881G>A (p.Val627=)
|
rs139362268
|
0.00003
|
NM_024675.4(PALB2):c.1882_1890del (p.Lys628_Cys630del)
|
rs587778583
|
0.00003
|
NM_024675.4(PALB2):c.2034A>G (p.Leu678=)
|
rs373796987
|
0.00003
|
NM_024675.4(PALB2):c.20A>G (p.Lys7Arg)
|
rs947155109
|
0.00003
|
NM_024675.4(PALB2):c.2106A>G (p.Ile702Met)
|
rs730881886
|
0.00003
|
NM_024675.4(PALB2):c.2136G>A (p.Ala712=)
|
rs905951607
|
0.00003
|
NM_024675.4(PALB2):c.2208C>A (p.Ala736=)
|
rs369113809
|
0.00003
|
NM_024675.4(PALB2):c.2244A>G (p.Thr748=)
|
rs750048627
|
0.00003
|
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser)
|
rs587782579
|
0.00003
|
NM_024675.4(PALB2):c.2743G>A (p.Ala915Thr)
|
rs374736398
|
0.00003
|
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)
|
rs587780214
|
0.00003
|
NM_024675.4(PALB2):c.2949C>G (p.Thr983=)
|
rs1250153779
|
0.00003
|
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)
|
rs138273800
|
0.00003
|
NM_024675.4(PALB2):c.3201+10G>A
|
rs759499251
|
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.3473A>G (p.His1158Arg)
|
rs45505500
|
0.00003
|
NM_024675.4(PALB2):c.788A>G (p.Glu263Gly)
|
rs745553724
|
0.00003
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
NM_024675.4(PALB2):c.950C>T (p.Thr317Ile)
|
rs45548638
|
0.00003
|
NM_032043.3(BRIP1):c.1695A>C (p.Ser565=)
|
rs142572387
|
0.00003
|
NM_032043.3(BRIP1):c.2100A>G (p.Leu700=)
|
rs766047812
|
0.00003
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=)
|
rs188258913
|
0.00003
|
NM_032043.3(BRIP1):c.312T>G (p.Thr104=)
|
rs769190318
|
0.00003
|
NM_032043.3(BRIP1):c.702G>A (p.Lys234=)
|
rs45512798
|
0.00003
|
NM_000051.4(ATM):c.1271C>A (p.Pro424His)
|
rs147472613
|
0.00002
|
NM_000051.4(ATM):c.1629T>G (p.Thr543=)
|
rs760285673
|
0.00002
|
NM_000051.4(ATM):c.1855A>C (p.Asn619His)
|
rs140882609
|
0.00002
|
NM_000051.4(ATM):c.3994-2A>G
|
rs587782276
|
0.00002
|
NM_000051.4(ATM):c.4050G>A (p.Thr1350=)
|
rs770697446
|
0.00002
|
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)
|
rs375131360
|
0.00002
|
NM_000051.4(ATM):c.6396A>G (p.Leu2132=)
|
rs370537345
|
0.00002
|
NM_000051.4(ATM):c.6552C>T (p.Ser2184=)
|
rs565124064
|
0.00002
|
NM_000051.4(ATM):c.660G>A (p.Ala220=)
|
rs763669136
|
0.00002
|
NM_000051.4(ATM):c.6897C>T (p.Phe2299=)
|
rs777164914
|
0.00002
|
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile)
|
rs587779870
|
0.00002
|
NM_000051.4(ATM):c.8427A>G (p.Gln2809=)
|
rs538173062
|
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.9045G>A (p.Glu3015=)
|
rs786203336
|
0.00002
|
NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys)
|
rs730881549
|
0.00002
|
NM_000465.4(BARD1):c.1194A>G (p.Thr398=)
|
rs781482219
|
0.00002
|
NM_000465.4(BARD1):c.1270A>C (p.Arg424=)
|
rs1553622123
|
0.00002
|
NM_000465.4(BARD1):c.1569-13C>G
|
rs587780018
|
0.00002
|
NM_000465.4(BARD1):c.159-7C>T
|
rs533403598
|
0.00002
|
NM_000465.4(BARD1):c.1678A>G (p.Met560Val)
|
rs587780020
|
0.00002
|
NM_000465.4(BARD1):c.2253G>T (p.Arg751=)
|
rs750001065
|
0.00002
|
NM_000465.4(BARD1):c.531A>G (p.Gln177=)
|
rs774050888
|
0.00002
|
NM_000465.4(BARD1):c.564T>G (p.Pro188=)
|
rs748511245
|
0.00002
|
NM_000465.4(BARD1):c.776A>G (p.Asp259Gly)
|
rs587780036
|
0.00002
|
NM_000465.4(BARD1):c.79G>C (p.Glu27Gln)
|
rs587780037
|
0.00002
|
NM_000465.4(BARD1):c.945A>T (p.Pro315=)
|
rs876660284
|
0.00002
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
NM_007194.4(CHEK2):c.1203T>C (p.Thr401=)
|
rs560781587
|
0.00002
|
NM_007194.4(CHEK2):c.1462-7C>G
|
rs730881707
|
0.00002
|
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)
|
rs371657037
|
0.00002
|
NM_007194.4(CHEK2):c.432T>C (p.Phe144=)
|
rs876658374
|
0.00002
|
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)
|
rs575910805
|
0.00002
|
NM_007194.4(CHEK2):c.600C>G (p.Val200=)
|
rs141685349
|
0.00002
|
NM_007194.4(CHEK2):c.660C>T (p.Tyr220=)
|
rs876659987
|
0.00002
|
NM_007194.4(CHEK2):c.793-17T>C
|
rs778511901
|
0.00002
|
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys)
|
rs587782460
|
0.00002
|
NM_024675.4(PALB2):c.1191A>G (p.Thr397=)
|
rs1597096781
|
0.00002
|
NM_024675.4(PALB2):c.1311A>G (p.Lys437=)
|
rs190489275
|
0.00002
|
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)
|
rs763598472
|
0.00002
|
NM_024675.4(PALB2):c.1599T>C (p.Thr533=)
|
rs786201088
|
0.00002
|
NM_024675.4(PALB2):c.1767G>A (p.Thr589=)
|
rs769849072
|
0.00002
|
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)
|
rs587781818
|
0.00002
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)
|
rs141749524
|
0.00002
|
NM_024675.4(PALB2):c.2253T>C (p.Ala751=)
|
rs138514571
|
0.00002
|
NM_024675.4(PALB2):c.2319T>C (p.Thr773=)
|
rs562168734
|
0.00002
|
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)
|
rs201042302
|
0.00002
|
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu)
|
rs45464991
|
0.00002
|
NM_024675.4(PALB2):c.2418G>A (p.Pro806=)
|
rs577076372
|
0.00002
|
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser)
|
rs515726094
|
0.00002
|
NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser)
|
rs45464500
|
0.00002
|
NM_024675.4(PALB2):c.2859T>C (p.Asp953=)
|
rs515726101
|
0.00002
|
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)
|
rs369132015
|
0.00002
|
NM_024675.4(PALB2):c.2979G>A (p.Thr993=)
|
rs772357409
|
0.00002
|
NM_024675.4(PALB2):c.304G>A (p.Val102Ile)
|
rs778573607
|
0.00002
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly)
|
rs786203345
|
0.00002
|
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
|
rs587776527
|
0.00002
|
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro)
|
rs515726116
|
0.00002
|
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=)
|
rs748363227
|
0.00002
|
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)
|
rs878855122
|
0.00002
|
NM_024675.4(PALB2):c.807T>C (p.Gly269=)
|
rs180177093
|
0.00002
|
NM_024675.4(PALB2):c.897T>C (p.Ser299=)
|
rs180177095
|
0.00002
|
NM_024675.4(PALB2):c.90G>A (p.Lys30=)
|
rs515726130
|
0.00002
|
NM_024675.4(PALB2):c.915A>G (p.Val305=)
|
rs748881930
|
0.00002
|
NM_024675.4(PALB2):c.942A>G (p.Gln314=)
|
rs1156931572
|
0.00002
|
NM_024675.4(PALB2):c.995T>A (p.Leu332His)
|
rs377149139
|
0.00002
|
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg)
|
rs45501097
|
0.00002
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00002
|
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)
|
rs1555069617
|
0.00001
|
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)
|
rs34083085
|
0.00001
|
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter)
|
rs747563556
|
0.00001
|
NM_000051.4(ATM):c.1212G>A (p.Gln404=)
|
rs786201519
|
0.00001
|
NM_000051.4(ATM):c.1303T>C (p.Leu435=)
|
rs748469311
|
0.00001
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
NM_000051.4(ATM):c.1494G>A (p.Glu498=)
|
rs763108858
|
0.00001
|
NM_000051.4(ATM):c.1607+1G>T
|
rs772926890
|
0.00001
|
NM_000051.4(ATM):c.1695A>G (p.Glu565=)
|
rs780932013
|
0.00001
|
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)
|
rs587780614
|
0.00001
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
0.00001
|
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)
|
rs528165789
|
0.00001
|
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)
|
rs765965513
|
0.00001
|
NM_000051.4(ATM):c.2117C>G (p.Ser706Ter)
|
rs779004090
|
0.00001
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
NM_000051.4(ATM):c.2262A>G (p.Gln754=)
|
rs778320952
|
0.00001
|
NM_000051.4(ATM):c.3078-1G>A
|
rs750663117
|
0.00001
|
NM_000051.4(ATM):c.3108C>T (p.Phe1036=)
|
rs867514913
|
0.00001
|
NM_000051.4(ATM):c.3135C>T (p.Cys1045=)
|
rs773577455
|
0.00001
|
NM_000051.4(ATM):c.3154-2A>G
|
rs730881357
|
0.00001
|
NM_000051.4(ATM):c.3257G>A (p.Arg1086His)
|
rs769857066
|
0.00001
|
NM_000051.4(ATM):c.331+7G>A
|
rs1184757004
|
0.00001
|
NM_000051.4(ATM):c.332-1G>A
|
rs747855862
|
0.00001
|
NM_000051.4(ATM):c.3336T>A (p.Pro1112=)
|
rs758784434
|
0.00001
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)
|
rs730881389
|
0.00001
|
NM_000051.4(ATM):c.3982T>C (p.Leu1328=)
|
rs876658204
|
0.00001
|
NM_000051.4(ATM):c.411C>T (p.Tyr137=)
|
rs756160533
|
0.00001
|
NM_000051.4(ATM):c.4437-1G>C
|
rs759520465
|
0.00001
|
NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly)
|
rs876658711
|
0.00001
|
NM_000051.4(ATM):c.4492T>C (p.Leu1498=)
|
rs748949478
|
0.00001
|
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)
|
rs779718362
|
0.00001
|
NM_000051.4(ATM):c.48A>G (p.Glu16=)
|
rs774768437
|
0.00001
|
NM_000051.4(ATM):c.4910-5T>C
|
rs1309478967
|
0.00001
|
NM_000051.4(ATM):c.5005+1G>T
|
rs1057517427
|
0.00001
|
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro)
|
rs747800057
|
0.00001
|
NM_000051.4(ATM):c.5203dup (p.Thr1735fs)
|
rs878853518
|
0.00001
|
NM_000051.4(ATM):c.5217C>T (p.Asn1739=)
|
rs876658271
|
0.00001
|
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)
|
rs587779844
|
0.00001
|
NM_000051.4(ATM):c.5301T>C (p.Phe1767=)
|
rs1468101040
|
0.00001
|
NM_000051.4(ATM):c.5319+2T>C
|
rs1555105842
|
0.00001
|
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs)
|
rs1214541502
|
0.00001
|
NM_000051.4(ATM):c.5544T>C (p.Asp1848=)
|
rs146568734
|
0.00001
|
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)
|
rs758908522
|
0.00001
|
NM_000051.4(ATM):c.5763-1056G>A
|
rs1325461375
|
0.00001
|
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)
|
rs876658740
|
0.00001
|
NM_000051.4(ATM):c.590G>A (p.Gly197Glu)
|
rs753806542
|
0.00001
|
NM_000051.4(ATM):c.591A>T (p.Gly197=)
|
rs587780630
|
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.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000051.4(ATM):c.6172_6176del (p.Ser2058fs)
|
rs1348587218
|
0.00001
|
NM_000051.4(ATM):c.6572+4T>C
|
rs587780636
|
0.00001
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
NM_000051.4(ATM):c.6807G>A (p.Gln2269=)
|
rs587780638
|
0.00001
|
NM_000051.4(ATM):c.680C>T (p.Ser227Leu)
|
rs762998620
|
0.00001
|
NM_000051.4(ATM):c.6975+7T>A
|
rs754834282
|
0.00001
|
NM_000051.4(ATM):c.7116T>C (p.Asp2372=)
|
rs3218675
|
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.7302A>T (p.Thr2434=)
|
rs752125292
|
0.00001
|
NM_000051.4(ATM):c.7317A>G (p.Val2439=)
|
rs878853542
|
0.00001
|
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln)
|
rs587782310
|
0.00001
|
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)
|
rs774281788
|
0.00001
|
NM_000051.4(ATM):c.7566A>G (p.Gln2522=)
|
rs775621333
|
0.00001
|
NM_000051.4(ATM):c.7602C>T (p.Gly2534=)
|
rs562264493
|
0.00001
|
NM_000051.4(ATM):c.7629+2T>C
|
rs786203059
|
0.00001
|
NM_000051.4(ATM):c.8187A>G (p.Gln2729=)
|
rs587781946
|
0.00001
|
NM_000051.4(ATM):c.829G>T (p.Glu277Ter)
|
rs876660933
|
0.00001
|
NM_000051.4(ATM):c.834C>T (p.Val278=)
|
rs2079769316
|
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.8532T>C (p.Ile2844=)
|
rs730881278
|
0.00001
|
NM_000051.4(ATM):c.8751C>T (p.Gly2917=)
|
rs779858366
|
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.8988-1G>C
|
rs730881386
|
0.00001
|
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe)
|
rs779967765
|
0.00001
|
NM_000059.4(BRCA2):c.7633G>A (p.Val2545Ile)
|
rs80358990
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8798G>C (p.Arg2933Thr)
|
rs553440338
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)
|
rs730881619
|
0.00001
|
NM_000465.4(BARD1):c.1014C>G (p.Thr338=)
|
rs864622443
|
0.00001
|
NM_000465.4(BARD1):c.105C>T (p.Ala35=)
|
rs1031199399
|
0.00001
|
NM_000465.4(BARD1):c.1083A>G (p.Glu361=)
|
rs778116528
|
0.00001
|
NM_000465.4(BARD1):c.108C>T (p.His36=)
|
rs1445402241
|
0.00001
|
NM_000465.4(BARD1):c.1159T>C (p.Phe387Leu)
|
rs759370463
|
0.00001
|
NM_000465.4(BARD1):c.1161C>A (p.Phe387Leu)
|
rs553790960
|
0.00001
|
NM_000465.4(BARD1):c.1182A>G (p.Thr394=)
|
rs780580712
|
0.00001
|
NM_000465.4(BARD1):c.1195T>C (p.Leu399=)
|
rs201729742
|
0.00001
|
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter)
|
rs796666047
|
0.00001
|
NM_000465.4(BARD1):c.1206A>G (p.Ser402=)
|
rs786203162
|
0.00001
|
NM_000465.4(BARD1):c.1218A>T (p.Arg406=)
|
rs757900534
|
0.00001
|
NM_000465.4(BARD1):c.1239A>G (p.Ala413=)
|
rs765212498
|
0.00001
|
NM_000465.4(BARD1):c.1239A>T (p.Ala413=)
|
rs765212498
|
0.00001
|
NM_000465.4(BARD1):c.123C>A (p.Leu41=)
|
rs764410072
|
0.00001
|
NM_000465.4(BARD1):c.1305T>G (p.Ala435=)
|
rs372679962
|
0.00001
|
NM_000465.4(BARD1):c.1317C>T (p.Gly439=)
|
rs369986649
|
0.00001
|
NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala)
|
rs730881408
|
0.00001
|
NM_000465.4(BARD1):c.1380T>A (p.Ala460=)
|
rs778684915
|
0.00001
|
NM_000465.4(BARD1):c.1383A>G (p.Gly461=)
|
rs148821907
|
0.00001
|
NM_000465.4(BARD1):c.1389A>G (p.Thr463=)
|
rs748796794
|
0.00001
|
NM_000465.4(BARD1):c.1393T>C (p.Leu465=)
|
rs779653364
|
0.00001
|
NM_000465.4(BARD1):c.1395+4G>A
|
rs1025329798
|
0.00001
|
NM_000465.4(BARD1):c.141G>A (p.Leu47=)
|
rs760186732
|
0.00001
|
NM_000465.4(BARD1):c.142C>T (p.Leu48=)
|
rs1057521017
|
0.00001
|
NM_000465.4(BARD1):c.1431G>A (p.Val477=)
|
rs543974545
|
0.00001
|
NM_000465.4(BARD1):c.1434A>G (p.Glu478=)
|
rs1574788954
|
0.00001
|
NM_000465.4(BARD1):c.1443C>T (p.Leu481=)
|
rs1286691671
|
0.00001
|
NM_000465.4(BARD1):c.1448A>G (p.His483Arg)
|
rs587781874
|
0.00001
|
NM_000465.4(BARD1):c.1452G>A (p.Lys484=)
|
rs201841770
|
0.00001
|
NM_000465.4(BARD1):c.1456T>C (p.Leu486=)
|
rs1446646798
|
0.00001
|
NM_000465.4(BARD1):c.1470C>T (p.Thr490=)
|
rs758895846
|
0.00001
|
NM_000465.4(BARD1):c.1488A>C (p.Ser496=)
|
rs1415537947
|
0.00001
|
NM_000465.4(BARD1):c.1497C>T (p.His499=)
|
rs760665188
|
0.00001
|
NM_000465.4(BARD1):c.1542T>G (p.Leu514=)
|
rs770358347
|
0.00001
|
NM_000465.4(BARD1):c.15G>C (p.Arg5=)
|
rs769204862
|
0.00001
|
NM_000465.4(BARD1):c.1614T>C (p.Ser538=)
|
rs781448650
|
0.00001
|
NM_000465.4(BARD1):c.1623G>A (p.Ser541=)
|
rs758552128
|
0.00001
|
NM_000465.4(BARD1):c.1626A>G (p.Leu542=)
|
rs786201551
|
0.00001
|
NM_000465.4(BARD1):c.1629G>A (p.Leu543=)
|
rs748646220
|
0.00001
|
NM_000465.4(BARD1):c.1633C>T (p.Leu545=)
|
rs779307636
|
0.00001
|
NM_000465.4(BARD1):c.1662T>C (p.Ala554=)
|
rs1402521170
|
0.00001
|
NM_000465.4(BARD1):c.1674A>G (p.Ser558=)
|
rs1060501313
|
0.00001
|
NM_000465.4(BARD1):c.1678-1G>T
|
rs767208318
|
0.00001
|
NM_000465.4(BARD1):c.1689G>A (p.Gly563=)
|
rs762745326
|
0.00001
|
NM_000465.4(BARD1):c.1695T>C (p.Arg565=)
|
rs569636814
|
0.00001
|
NM_000465.4(BARD1):c.1704A>G (p.Gly568=)
|
rs1057520238
|
0.00001
|
NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr)
|
rs587780022
|
0.00001
|
NM_000465.4(BARD1):c.171G>C (p.Leu57=)
|
rs876659045
|
0.00001
|
NM_000465.4(BARD1):c.1731G>A (p.Leu577=)
|
rs863224364
|
0.00001
|
NM_000465.4(BARD1):c.173G>A (p.Arg58Lys)
|
rs774009993
|
0.00001
|
NM_000465.4(BARD1):c.1773T>A (p.Ile591=)
|
rs201565373
|
0.00001
|
NM_000465.4(BARD1):c.1791T>C (p.Tyr597=)
|
rs1356036720
|
0.00001
|
NM_000465.4(BARD1):c.1808C>A (p.Thr603Lys)
|
rs730881421
|
0.00001
|
NM_000465.4(BARD1):c.1818T>C (p.His606=)
|
rs199590147
|
0.00001
|
NM_000465.4(BARD1):c.1824T>G (p.Val608=)
|
rs1268678327
|
0.00001
|
NM_000465.4(BARD1):c.1881A>C (p.Gly627=)
|
rs968535447
|
0.00001
|
NM_000465.4(BARD1):c.1908A>G (p.Val636=)
|
rs1574707330
|
0.00001
|
NM_000465.4(BARD1):c.1920A>G (p.Leu640=)
|
rs780901872
|
0.00001
|
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter)
|
rs730881422
|
0.00001
|
NM_000465.4(BARD1):c.2002-2A>G
|
rs876658260
|
0.00001
|
NM_000465.4(BARD1):c.2013G>A (p.Leu671=)
|
rs759021562
|
0.00001
|
NM_000465.4(BARD1):c.2031C>T (p.Phe677=)
|
rs573443019
|
0.00001
|
NM_000465.4(BARD1):c.2091A>G (p.Ala697=)
|
rs786201573
|
0.00001
|
NM_000465.4(BARD1):c.2091A>T (p.Ala697=)
|
rs786201573
|
0.00001
|
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val)
|
rs150121935
|
0.00001
|
NM_000465.4(BARD1):c.2136C>T (p.Asp712=)
|
rs759046999
|
0.00001
|
NM_000465.4(BARD1):c.2145G>A (p.Gln715=)
|
rs760541330
|
0.00001
|
NM_000465.4(BARD1):c.2178C>T (p.Pro726=)
|
rs201873551
|
0.00001
|
NM_000465.4(BARD1):c.219T>C (p.Asn73=)
|
rs1695569326
|
0.00001
|
NM_000465.4(BARD1):c.2202A>G (p.Thr734=)
|
rs786201370
|
0.00001
|
NM_000465.4(BARD1):c.2211C>T (p.Ile737=)
|
rs773958595
|
0.00001
|
NM_000465.4(BARD1):c.2217T>C (p.Tyr739=)
|
rs1057522854
|
0.00001
|
NM_000465.4(BARD1):c.2235T>C (p.Tyr745=)
|
rs747122703
|
0.00001
|
NM_000465.4(BARD1):c.2250T>G (p.Val750=)
|
rs1574702229
|
0.00001
|
NM_000465.4(BARD1):c.2259C>A (p.Gly753=)
|
rs753441393
|
0.00001
|
NM_000465.4(BARD1):c.2262A>G (p.Lys754=)
|
rs1446285640
|
0.00001
|
NM_000465.4(BARD1):c.2313G>A (p.Glu771=)
|
rs762887239
|
0.00001
|
NM_000465.4(BARD1):c.2316G>A (p.Leu772=)
|
rs1266259366
|
0.00001
|
NM_000465.4(BARD1):c.2328C>T (p.Asp776=)
|
rs863224673
|
0.00001
|
NM_000465.4(BARD1):c.267G>A (p.Pro89=)
|
rs756165637
|
0.00001
|
NM_000465.4(BARD1):c.27C>T (p.Asn9=)
|
rs1038616344
|
0.00001
|
NM_000465.4(BARD1):c.300A>G (p.Gln100=)
|
rs977731407
|
0.00001
|
NM_000465.4(BARD1):c.36G>A (p.Pro12=)
|
rs876659948
|
0.00001
|
NM_000465.4(BARD1):c.390A>G (p.Lys130=)
|
rs554652893
|
0.00001
|
NM_000465.4(BARD1):c.45C>T (p.Arg15=)
|
rs786201402
|
0.00001
|
NM_000465.4(BARD1):c.465A>G (p.Arg155=)
|
rs730881413
|
0.00001
|
NM_000465.4(BARD1):c.468T>C (p.Tyr156=)
|
rs1436038663
|
0.00001
|
NM_000465.4(BARD1):c.540T>C (p.Tyr180=)
|
rs1299740017
|
0.00001
|
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys)
|
rs587780032
|
0.00001
|
NM_000465.4(BARD1):c.567A>C (p.Ala189=)
|
rs878854015
|
0.00001
|
NM_000465.4(BARD1):c.585T>C (p.Ala195=)
|
rs876658532
|
0.00001
|
NM_000465.4(BARD1):c.594T>G (p.Ala198=)
|
rs373763567
|
0.00001
|
NM_000465.4(BARD1):c.600A>G (p.Ala200=)
|
rs864622418
|
0.00001
|
NM_000465.4(BARD1):c.606T>G (p.Ser202=)
|
rs762810549
|
0.00001
|
NM_000465.4(BARD1):c.607G>A (p.Gly203Arg)
|
rs730881415
|
0.00001
|
NM_000465.4(BARD1):c.615G>A (p.Lys205=)
|
rs766609646
|
0.00001
|
NM_000465.4(BARD1):c.627A>G (p.Lys209=)
|
rs772625144
|
0.00001
|
NM_000465.4(BARD1):c.645C>T (p.Asn215=)
|
rs1328709218
|
0.00001
|
NM_000465.4(BARD1):c.651A>G (p.Lys217=)
|
rs768866006
|
0.00001
|
NM_000465.4(BARD1):c.669A>G (p.Glu223=)
|
rs786201963
|
0.00001
|
NM_000465.4(BARD1):c.6G>T (p.Pro2=)
|
rs876660278
|
0.00001
|
NM_000465.4(BARD1):c.726C>T (p.Phe242=)
|
rs876659277
|
0.00001
|
NM_000465.4(BARD1):c.735A>G (p.Gln245=)
|
rs763378916
|
0.00001
|
NM_000465.4(BARD1):c.759G>A (p.Gln253=)
|
rs747929767
|
0.00001
|
NM_000465.4(BARD1):c.75C>T (p.Ala25=)
|
rs763098407
|
0.00001
|
NM_000465.4(BARD1):c.765T>C (p.Asn255=)
|
rs754775017
|
0.00001
|
NM_000465.4(BARD1):c.781C>T (p.Leu261=)
|
rs767806228
|
0.00001
|
NM_000465.4(BARD1):c.807T>G (p.Ser269=)
|
rs1420328641
|
0.00001
|
NM_000465.4(BARD1):c.843A>G (p.Pro281=)
|
rs1559424812
|
0.00001
|
NM_000465.4(BARD1):c.864T>C (p.Ser288=)
|
rs771982631
|
0.00001
|
NM_000465.4(BARD1):c.882G>A (p.Arg294=)
|
rs778855056
|
0.00001
|
NM_000465.4(BARD1):c.897T>C (p.Thr299=)
|
rs559051241
|
0.00001
|
NM_000465.4(BARD1):c.924T>C (p.Leu308=)
|
rs758559877
|
0.00001
|
NM_000465.4(BARD1):c.954T>C (p.Asn318=)
|
rs771502065
|
0.00001
|
NM_000465.4(BARD1):c.975C>T (p.His325=)
|
rs876660202
|
0.00001
|
NM_007194.4(CHEK2):c.-6-4T>C
|
rs2054342764
|
0.00001
|
NM_007194.4(CHEK2):c.1005G>A (p.Val335=)
|
rs2052756490
|
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.102G>A (p.Gln34=)
|
rs1555932675
|
0.00001
|
NM_007194.4(CHEK2):c.1035C>T (p.His345=)
|
rs756520206
|
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.1080G>A (p.Glu360=)
|
rs1601726685
|
0.00001
|
NM_007194.4(CHEK2):c.1083C>T (p.Asp361=)
|
rs572668197
|
0.00001
|
NM_007194.4(CHEK2):c.1089T>C (p.Leu363=)
|
rs761681864
|
0.00001
|
NM_007194.4(CHEK2):c.1096-4T>C
|
rs587782840
|
0.00001
|
NM_007194.4(CHEK2):c.1197T>C (p.Val399=)
|
rs1057520268
|
0.00001
|
NM_007194.4(CHEK2):c.1200G>C (p.Gly400=)
|
rs876659590
|
0.00001
|
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr)
|
rs578218280
|
0.00001
|
NM_007194.4(CHEK2):c.1260-18C>T
|
rs1057521375
|
0.00001
|
NM_007194.4(CHEK2):c.1260-8A>G
|
rs863224747
|
0.00001
|
NM_007194.4(CHEK2):c.1269G>T (p.Gly423=)
|
rs749368980
|
0.00001
|
NM_007194.4(CHEK2):c.1284T>C (p.Ser428=)
|
rs781514295
|
0.00001
|
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)
|
rs758102180
|
0.00001
|
NM_007194.4(CHEK2):c.1290T>C (p.His430=)
|
rs373864492
|
0.00001
|
NM_007194.4(CHEK2):c.1293G>A (p.Arg431=)
|
rs587780175
|
0.00001
|
NM_007194.4(CHEK2):c.132C>T (p.Ser44=)
|
rs199715101
|
0.00001
|
NM_007194.4(CHEK2):c.1376-13A>G
|
rs1064793330
|
0.00001
|
NM_007194.4(CHEK2):c.1386T>C (p.Leu462=)
|
rs876659337
|
0.00001
|
NM_007194.4(CHEK2):c.1410T>C (p.Asp470=)
|
rs864622382
|
0.00001
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
NM_007194.4(CHEK2):c.1431A>G (p.Thr477=)
|
rs2052468226
|
0.00001
|
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=)
|
rs749156425
|
0.00001
|
NM_007194.4(CHEK2):c.1462-1G>A
|
rs1060502698
|
0.00001
|
NM_007194.4(CHEK2):c.1476G>A (p.Lys492=)
|
rs898342452
|
0.00001
|
NM_007194.4(CHEK2):c.1489del (p.Asp497fs)
|
rs774175654
|
0.00001
|
NM_007194.4(CHEK2):c.1491T>C (p.Asp497=)
|
rs762041905
|
0.00001
|
NM_007194.4(CHEK2):c.1494T>C (p.Leu498=)
|
rs531931623
|
0.00001
|
NM_007194.4(CHEK2):c.1518A>G (p.Thr506=)
|
rs1052262892
|
0.00001
|
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)
|
rs17882942
|
0.00001
|
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=)
|
rs786201796
|
0.00001
|
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=)
|
rs758555487
|
0.00001
|
NM_007194.4(CHEK2):c.189A>G (p.Leu63=)
|
rs761028062
|
0.00001
|
NM_007194.4(CHEK2):c.225T>G (p.Pro75=)
|
rs1217608176
|
0.00001
|
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)
|
rs1555932341
|
0.00001
|
NM_007194.4(CHEK2):c.249A>G (p.Gln83=)
|
rs776271158
|
0.00001
|
NM_007194.4(CHEK2):c.255T>C (p.Pro85=)
|
rs1418971926
|
0.00001
|
NM_007194.4(CHEK2):c.288A>G (p.Leu96=)
|
rs767758092
|
0.00001
|
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter)
|
rs1064793817
|
0.00001
|
NM_007194.4(CHEK2):c.30G>A (p.Gln10=)
|
rs1330700030
|
0.00001
|
NM_007194.4(CHEK2):c.319+1G>A
|
rs765080766
|
0.00001
|
NM_007194.4(CHEK2):c.339C>T (p.Tyr113=)
|
rs905674348
|
0.00001
|
NM_007194.4(CHEK2):c.381A>G (p.Glu127=)
|
rs199929178
|
0.00001
|
NM_007194.4(CHEK2):c.387G>A (p.Leu129=)
|
rs560046142
|
0.00001
|
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=)
|
rs200917541
|
0.00001
|
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)
|
rs786203192
|
0.00001
|
NM_007194.4(CHEK2):c.444+2T>G
|
rs560596101
|
0.00001
|
NM_007194.4(CHEK2):c.444+3A>G
|
rs587781279
|
0.00001
|
NM_007194.4(CHEK2):c.444+4G>A
|
rs1434760802
|
0.00001
|
NM_007194.4(CHEK2):c.468C>T (p.Tyr156=)
|
rs1555926996
|
0.00001
|
NM_007194.4(CHEK2):c.471T>C (p.Ile157=)
|
rs374170772
|
0.00001
|
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg)
|
rs72552323
|
0.00001
|
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly)
|
rs587781652
|
0.00001
|
NM_007194.4(CHEK2):c.528G>C (p.Gly176=)
|
rs587780889
|
0.00001
|
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe)
|
rs745646057
|
0.00001
|
NM_007194.4(CHEK2):c.573G>C (p.Leu191=)
|
rs786201267
|
0.00001
|
NM_007194.4(CHEK2):c.582C>T (p.Ser194=)
|
rs761126328
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007194.4(CHEK2):c.592+9A>G
|
rs538351542
|
0.00001
|
NM_007194.4(CHEK2):c.645A>G (p.Ala215=)
|
rs761630560
|
0.00001
|
NM_007194.4(CHEK2):c.6T>C (p.Ser2=)
|
rs768632104
|
0.00001
|
NM_007194.4(CHEK2):c.708G>C (p.Leu236=)
|
rs1359839685
|
0.00001
|
NM_007194.4(CHEK2):c.714C>T (p.Phe238=)
|
rs864622322
|
0.00001
|
NM_007194.4(CHEK2):c.717G>A (p.Glu239=)
|
rs1555921253
|
0.00001
|
NM_007194.4(CHEK2):c.726A>G (p.Thr242=)
|
rs150150389
|
0.00001
|
NM_007194.4(CHEK2):c.753C>T (p.Ile251=)
|
rs1422471902
|
0.00001
|
NM_007194.4(CHEK2):c.760A>C (p.Arg254=)
|
rs1395878179
|
0.00001
|
NM_007194.4(CHEK2):c.792+2T>C
|
rs545982789
|
0.00001
|
NM_007194.4(CHEK2):c.847-30_847-11dup
|
rs760398606
|
0.00001
|
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)
|
rs761494650
|
0.00001
|
NM_007194.4(CHEK2):c.954C>T (p.Arg318=)
|
rs1601738778
|
0.00001
|
NM_007194.4(CHEK2):c.990G>A (p.Gln330=)
|
rs9625537
|
0.00001
|
NM_007194.4(CHEK2):c.996C>T (p.Leu332=)
|
rs1053994833
|
0.00001
|
NM_007194.4(CHEK2):c.997T>C (p.Leu333=)
|
rs1352758126
|
0.00001
|
NM_007194.4(CHEK2):c.99A>G (p.Ser33=)
|
rs925489951
|
0.00001
|
NM_024675.4(PALB2):c.1014A>G (p.Pro338=)
|
rs540622230
|
0.00001
|
NM_024675.4(PALB2):c.1033T>C (p.Leu345=)
|
rs786201393
|
0.00001
|
NM_024675.4(PALB2):c.1035A>G (p.Leu345=)
|
rs876658634
|
0.00001
|
NM_024675.4(PALB2):c.1038A>G (p.Lys346=)
|
rs515726059
|
0.00001
|
NM_024675.4(PALB2):c.1072C>T (p.Pro358Ser)
|
rs876660876
|
0.00001
|
NM_024675.4(PALB2):c.108+1G>A
|
rs1060499814
|
0.00001
|
NM_024675.4(PALB2):c.1097A>G (p.Asn366Ser)
|
rs554849907
|
0.00001
|
NM_024675.4(PALB2):c.10C>T (p.Pro4Ser)
|
rs587782483
|
0.00001
|
NM_024675.4(PALB2):c.1110G>A (p.Gln370=)
|
rs756002989
|
0.00001
|
NM_024675.4(PALB2):c.1119G>A (p.Glu373=)
|
rs45623436
|
0.00001
|
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile)
|
rs373298267
|
0.00001
|
NM_024675.4(PALB2):c.1125A>G (p.Leu375=)
|
rs767284930
|
0.00001
|
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)
|
rs515726063
|
0.00001
|
NM_024675.4(PALB2):c.1164T>C (p.Pro388=)
|
rs1205215998
|
0.00001
|
NM_024675.4(PALB2):c.1179A>G (p.Lys393=)
|
rs976340416
|
0.00001
|
NM_024675.4(PALB2):c.1188C>T (p.Cys396=)
|
rs587780817
|
0.00001
|
NM_024675.4(PALB2):c.1230T>C (p.Val410=)
|
rs587780818
|
0.00001
|
NM_024675.4(PALB2):c.1242A>C (p.Arg414=)
|
rs875989795
|
0.00001
|
NM_024675.4(PALB2):c.1257C>T (p.Cys419=)
|
rs786201086
|
0.00001
|
NM_024675.4(PALB2):c.1263G>A (p.Arg421=)
|
rs876660359
|
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.1380A>G (p.Gln460=)
|
rs372641262
|
0.00001
|
NM_024675.4(PALB2):c.1398T>G (p.Ser466=)
|
rs780026905
|
0.00001
|
NM_024675.4(PALB2):c.1400G>A (p.Gly467Asp)
|
rs730881906
|
0.00001
|
NM_024675.4(PALB2):c.1408A>G (p.Thr470Ala)
|
rs150636811
|
0.00001
|
NM_024675.4(PALB2):c.1446C>G (p.Leu482=)
|
rs368759893
|
0.00001
|
NM_024675.4(PALB2):c.1503G>A (p.Arg501=)
|
rs1060504705
|
0.00001
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
NM_024675.4(PALB2):c.1545A>G (p.Lys515=)
|
rs368503108
|
0.00001
|
NM_024675.4(PALB2):c.1551A>G (p.Lys517=)
|
rs755845383
|
0.00001
|
NM_024675.4(PALB2):c.1557C>T (p.Ala519=)
|
rs752349785
|
0.00001
|
NM_024675.4(PALB2):c.155T>C (p.Val52Ala)
|
rs373970237
|
0.00001
|
NM_024675.4(PALB2):c.1563C>G (p.Thr521=)
|
rs864622170
|
0.00001
|
NM_024675.4(PALB2):c.1569A>G (p.Ala523=)
|
rs1200825980
|
0.00001
|
NM_024675.4(PALB2):c.156del (p.Glu53fs)
|
rs587776406
|
0.00001
|
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)
|
rs142103232
|
0.00001
|
NM_024675.4(PALB2):c.1611G>A (p.Ser537=)
|
rs730881874
|
0.00001
|
NM_024675.4(PALB2):c.1662A>G (p.Glu554=)
|
rs786202692
|
0.00001
|
NM_024675.4(PALB2):c.1685-14T>A
|
rs780772404
|
0.00001
|
NM_024675.4(PALB2):c.1685-7T>G
|
rs1555460705
|
0.00001
|
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)
|
rs746582620
|
0.00001
|
NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile)
|
rs587780207
|
0.00001
|
NM_024675.4(PALB2):c.1734T>C (p.Ser578=)
|
rs757036149
|
0.00001
|
NM_024675.4(PALB2):c.1743A>G (p.Leu581=)
|
rs180177105
|
0.00001
|
NM_024675.4(PALB2):c.1785T>C (p.Asp595=)
|
rs1555460651
|
0.00001
|
NM_024675.4(PALB2):c.1792C>T (p.Leu598=)
|
rs746702349
|
0.00001
|
NM_024675.4(PALB2):c.1809A>G (p.Leu603=)
|
rs878855103
|
0.00001
|
NM_024675.4(PALB2):c.1830A>G (p.Thr610=)
|
rs876659484
|
0.00001
|
NM_024675.4(PALB2):c.1883A>C (p.Lys628Thr)
|
rs954390684
|
0.00001
|
NM_024675.4(PALB2):c.1908G>A (p.Glu636=)
|
rs1392612467
|
0.00001
|
NM_024675.4(PALB2):c.1923A>G (p.Lys641=)
|
rs775283927
|
0.00001
|
NM_024675.4(PALB2):c.1932A>C (p.Gly644=)
|
rs1567218470
|
0.00001
|
NM_024675.4(PALB2):c.195G>A (p.Pro65=)
|
rs751176316
|
0.00001
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
0.00001
|
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)
|
rs62625277
|
0.00001
|
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)
|
rs755263466
|
0.00001
|
NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn)
|
rs730881885
|
0.00001
|
NM_024675.4(PALB2):c.2031T>C (p.Val677=)
|
rs864622756
|
0.00001
|
NM_024675.4(PALB2):c.206A>T (p.His69Leu)
|
rs749443090
|
0.00001
|
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)
|
rs587776415
|
0.00001
|
NM_024675.4(PALB2):c.2079T>C (p.His693=)
|
rs1433680345
|
0.00001
|
NM_024675.4(PALB2):c.2087C>T (p.Thr696Met)
|
rs587780820
|
0.00001
|
NM_024675.4(PALB2):c.2103C>T (p.Ser701=)
|
rs753583700
|
0.00001
|
NM_024675.4(PALB2):c.2107T>C (p.Leu703=)
|
rs756030419
|
0.00001
|
NM_024675.4(PALB2):c.212-33A>C
|
rs515726079
|
0.00001
|
NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro)
|
rs765942523
|
0.00001
|
NM_024675.4(PALB2):c.2147A>G (p.Asn716Ser)
|
rs148335539
|
0.00001
|
NM_024675.4(PALB2):c.2163A>C (p.Thr721=)
|
rs587781105
|
0.00001
|
NM_024675.4(PALB2):c.2176C>T (p.Pro726Ser)
|
rs566813395
|
0.00001
|
NM_024675.4(PALB2):c.21G>A (p.Lys7=)
|
rs1424944402
|
0.00001
|
NM_024675.4(PALB2):c.2229T>C (p.Tyr743=)
|
rs730881888
|
0.00001
|
NM_024675.4(PALB2):c.2235A>G (p.Lys745=)
|
rs765854776
|
0.00001
|
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)
|
rs587778586
|
0.00001
|
NM_024675.4(PALB2):c.2274C>T (p.Pro758=)
|
rs183322618
|
0.00001
|
NM_024675.4(PALB2):c.2277A>G (p.Gln759=)
|
rs786202524
|
0.00001
|
NM_024675.4(PALB2):c.2298A>G (p.Ser766=)
|
rs754921518
|
0.00001
|
NM_024675.4(PALB2):c.229T>C (p.Cys77Arg)
|
rs760045493
|
0.00001
|
NM_024675.4(PALB2):c.2328C>T (p.Phe776=)
|
rs45508997
|
0.00001
|
NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn)
|
rs148026749
|
0.00001
|
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)
|
rs764509489
|
0.00001
|
NM_024675.4(PALB2):c.2337A>C (p.Ser779=)
|
rs786201651
|
0.00001
|
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser)
|
rs786203296
|
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.2391A>G (p.Gln797=)
|
rs780015674
|
0.00001
|
NM_024675.4(PALB2):c.2415C>T (p.Val805=)
|
rs756996540
|
0.00001
|
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)
|
rs763191051
|
0.00001
|
NM_024675.4(PALB2):c.2478C>T (p.Asn826=)
|
rs786201885
|
0.00001
|
NM_024675.4(PALB2):c.2484C>T (p.Cys828=)
|
rs875989798
|
0.00001
|
NM_024675.4(PALB2):c.24C>A (p.Pro8=)
|
rs766487850
|
0.00001
|
NM_024675.4(PALB2):c.24C>T (p.Pro8=)
|
rs766487850
|
0.00001
|
NM_024675.4(PALB2):c.2505C>T (p.Ser835=)
|
rs756502783
|
0.00001
|
NM_024675.4(PALB2):c.2508C>G (p.Val836=)
|
rs786203603
|
0.00001
|
NM_024675.4(PALB2):c.2514+3A>G
|
rs515726088
|
0.00001
|
NM_024675.4(PALB2):c.2514+3dup
|
rs587781602
|
0.00001
|
NM_024675.4(PALB2):c.2569T>C (p.Leu857=)
|
rs786201642
|
0.00001
|
NM_024675.4(PALB2):c.2571G>A (p.Leu857=)
|
rs587780821
|
0.00001
|
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)
|
rs587782387
|
0.00001
|
NM_024675.4(PALB2):c.2640C>T (p.Ala880=)
|
rs752928633
|
0.00001
|
NM_024675.4(PALB2):c.2655A>G (p.Pro885=)
|
rs1057524113
|
0.00001
|
NM_024675.4(PALB2):c.2673C>T (p.Cys891=)
|
rs78179744
|
0.00001
|
NM_024675.4(PALB2):c.2753C>A (p.Pro918Gln)
|
rs587780822
|
0.00001
|
NM_024675.4(PALB2):c.2784G>A (p.Val928=)
|
rs763411245
|
0.00001
|
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg)
|
rs773831304
|
0.00001
|
NM_024675.4(PALB2):c.2799T>C (p.Cys933=)
|
rs748232940
|
0.00001
|
NM_024675.4(PALB2):c.2821A>G (p.Ile941Val)
|
rs778602038
|
0.00001
|
NM_024675.4(PALB2):c.2835-11A>G
|
rs747232850
|
0.00001
|
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln)
|
rs515726103
|
0.00001
|
NM_024675.4(PALB2):c.2880A>G (p.Leu960=)
|
rs1057520342
|
0.00001
|
NM_024675.4(PALB2):c.2955T>G (p.Ser985=)
|
rs765643734
|
0.00001
|
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met)
|
rs61756146
|
0.00001
|
NM_024675.4(PALB2):c.2985A>T (p.Ala995=)
|
rs786202892
|
0.00001
|
NM_024675.4(PALB2):c.3024C>T (p.Pro1008=)
|
rs180177130
|
0.00001
|
NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile)
|
rs367840862
|
0.00001
|
NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr)
|
rs759795184
|
0.00001
|
NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg)
|
rs143808171
|
0.00001
|
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr)
|
rs746872839
|
0.00001
|
NM_024675.4(PALB2):c.3099C>T (p.Asn1033=)
|
rs1057523064
|
0.00001
|
NM_024675.4(PALB2):c.309G>A (p.Gly103=)
|
rs546015723
|
0.00001
|
NM_024675.4(PALB2):c.30C>T (p.Ser10=)
|
rs758500749
|
0.00001
|
NM_024675.4(PALB2):c.3113+5G>C
|
rs876659463
|
0.00001
|
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)
|
rs377713277
|
0.00001
|
NM_024675.4(PALB2):c.312T>C (p.Pro104=)
|
rs749203259
|
0.00001
|
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)
|
rs515726108
|
0.00001
|
NM_024675.4(PALB2):c.3201+1G>T
|
rs587776423
|
0.00001
|
NM_024675.4(PALB2):c.3202-9C>T
|
rs757444247
|
0.00001
|
NM_024675.4(PALB2):c.3204G>A (p.Gly1068=)
|
rs786203475
|
0.00001
|
NM_024675.4(PALB2):c.3219C>G (p.Val1073=)
|
rs876658924
|
0.00001
|
NM_024675.4(PALB2):c.3276C>T (p.Leu1092=)
|
rs779003246
|
0.00001
|
NM_024675.4(PALB2):c.3282G>A (p.Val1094=)
|
rs747861082
|
0.00001
|
NM_024675.4(PALB2):c.3288C>T (p.Asn1096=)
|
rs1597066782
|
0.00001
|
NM_024675.4(PALB2):c.330A>G (p.Gly110=)
|
rs876660773
|
0.00001
|
NM_024675.4(PALB2):c.3350+5G>A
|
rs587782566
|
0.00001
|
NM_024675.4(PALB2):c.3357G>A (p.Leu1119=)
|
rs1966406468
|
0.00001
|
NM_024675.4(PALB2):c.3366C>T (p.Asp1122=)
|
rs373783514
|
0.00001
|
NM_024675.4(PALB2):c.336C>T (p.Gly112=)
|
rs1293127133
|
0.00001
|
NM_024675.4(PALB2):c.3394T>C (p.Leu1132=)
|
rs1282821765
|
0.00001
|
NM_024675.4(PALB2):c.3453C>G (p.Leu1151=)
|
rs777315394
|
0.00001
|
NM_024675.4(PALB2):c.3476G>T (p.Trp1159Leu)
|
rs587782050
|
0.00001
|
NM_024675.4(PALB2):c.3483T>C (p.Phe1161=)
|
rs372686500
|
0.00001
|
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)
|
rs773829275
|
0.00001
|
NM_024675.4(PALB2):c.3510T>C (p.His1170=)
|
rs1966396385
|
0.00001
|
NM_024675.4(PALB2):c.351T>C (p.Pro117=)
|
rs763330757
|
0.00001
|
NM_024675.4(PALB2):c.3525A>G (p.Gln1175=)
|
rs763513849
|
0.00001
|
NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val)
|
rs863224788
|
0.00001
|
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)
|
rs370404126
|
0.00001
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
NM_024675.4(PALB2):c.3558A>G (p.Ser1186=)
|
rs1164709092
|
0.00001
|
NM_024675.4(PALB2):c.36G>A (p.Glu12=)
|
rs760609798
|
0.00001
|
NM_024675.4(PALB2):c.372C>T (p.Thr124=)
|
rs786201904
|
0.00001
|
NM_024675.4(PALB2):c.405T>C (p.Pro135=)
|
rs786201586
|
0.00001
|
NM_024675.4(PALB2):c.438A>C (p.Arg146Ser)
|
rs587781498
|
0.00001
|
NM_024675.4(PALB2):c.462A>G (p.Thr154=)
|
rs1057522196
|
0.00001
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
rs200937538
|
0.00001
|
NM_024675.4(PALB2):c.504A>C (p.Ser168=)
|
rs754500464
|
0.00001
|
NM_024675.4(PALB2):c.507C>G (p.Leu169=)
|
rs1375166092
|
0.00001
|
NM_024675.4(PALB2):c.509G>C (p.Arg170Thr)
|
rs898765598
|
0.00001
|
NM_024675.4(PALB2):c.531G>A (p.Lys177=)
|
rs779739454
|
0.00001
|
NM_024675.4(PALB2):c.546C>T (p.Ile182=)
|
rs1597098917
|
0.00001
|
NM_024675.4(PALB2):c.560C>A (p.Pro187His)
|
rs371582757
|
0.00001
|
NM_024675.4(PALB2):c.585A>T (p.Ile195=)
|
rs767775306
|
0.00001
|
NM_024675.4(PALB2):c.587G>A (p.Arg196Lys)
|
rs730881904
|
0.00001
|
NM_024675.4(PALB2):c.615A>G (p.Glu205=)
|
rs748128739
|
0.00001
|
NM_024675.4(PALB2):c.620C>G (p.Pro207Arg)
|
rs515726125
|
0.00001
|
NM_024675.4(PALB2):c.636A>G (p.Pro212=)
|
rs1555461696
|
0.00001
|
NM_024675.4(PALB2):c.660T>C (p.Ser220=)
|
rs571762192
|
0.00001
|
NM_024675.4(PALB2):c.66A>G (p.Ala22=)
|
rs1057520982
|
0.00001
|
NM_024675.4(PALB2):c.735G>A (p.Ala245=)
|
rs371612049
|
0.00001
|
NM_024675.4(PALB2):c.746C>T (p.Pro249Leu)
|
rs759810283
|
0.00001
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
NM_024675.4(PALB2):c.769G>A (p.Gly257Ser)
|
rs587780824
|
0.00001
|
NM_024675.4(PALB2):c.78G>A (p.Arg26=)
|
rs45572434
|
0.00001
|
NM_024675.4(PALB2):c.814G>A (p.Glu272Lys)
|
rs515726127
|
0.00001
|
NM_024675.4(PALB2):c.828C>T (p.His276=)
|
rs911713488
|
0.00001
|
NM_024675.4(PALB2):c.831C>T (p.Asp277=)
|
rs62625273
|
0.00001
|
NM_024675.4(PALB2):c.840C>T (p.Asn280=)
|
rs375258299
|
0.00001
|
NM_024675.4(PALB2):c.84C>T (p.Tyr28=)
|
rs761533286
|
0.00001
|
NM_024675.4(PALB2):c.856C>T (p.Pro286Ser)
|
rs45585833
|
0.00001
|
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly)
|
rs45561331
|
0.00001
|
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)
|
rs786203821
|
0.00001
|
NM_024675.4(PALB2):c.993A>G (p.Glu331=)
|
rs760362870
|
0.00001
|
NM_032043.3(BRIP1):c.1188dup (p.Asn397Ter)
|
rs1603342313
|
0.00001
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=)
|
rs773489367
|
0.00001
|
NM_032043.3(BRIP1):c.1594dup (p.Met532fs)
|
rs1339743866
|
0.00001
|
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)
|
rs575595017
|
0.00001
|
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)
|
rs764803896
|
0.00001
|
NM_032043.3(BRIP1):c.2419T>C (p.Leu807=)
|
rs786201708
|
0.00001
|
NM_032043.3(BRIP1):c.2427T>C (p.Gly809=)
|
rs754927538
|
0.00001
|
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)
|
rs1483527885
|
0.00001
|
NM_032043.3(BRIP1):c.2472C>T (p.Ala824=)
|
rs767666616
|
0.00001
|
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)
|
rs786203898
|
0.00001
|
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)
|
rs587782410
|
0.00001
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
0.00001
|
NM_032043.3(BRIP1):c.3276G>A (p.Pro1092=)
|
rs375911315
|
0.00001
|
NM_032043.3(BRIP1):c.3354T>C (p.Asn1118=)
|
rs757427210
|
0.00001
|
NM_032043.3(BRIP1):c.3489T>C (p.Asp1163=)
|
rs144245485
|
0.00001
|
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)
|
rs764848326
|
0.00001
|
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met)
|
rs1046992728
|
0.00001
|
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
|
rs1412610651
|
0.00001
|
NC_000016.10:g.23626399T>C
|
rs1060502787
|
|
NC_000017.11:g.61716043_61716045delinsCAAAT
|
rs1555580957
|
|
NC_012920.1(MT-CYB):m.14783T>C
|
rs193302982
|
|
NC_012920.1(MT-CYB):m.14891C>G
|
rs386419981
|
|
NC_012920.1(MT-CYB):m.14905G>A
|
rs193302983
|
|
NC_012920.1(MT-CYB):m.14974C>G
|
rs527236168
|
|
NC_012920.1(MT-CYB):m.15001T>C
|
rs527236169
|
|
NC_012920.1(MT-CYB):m.15043G>A
|
rs193302985
|
|
NC_012920.1(MT-CYB):m.15226A>G
|
rs527236174
|
|
NC_012920.1(MT-CYB):m.15289T>C
|
rs527236175
|
|
NC_012920.1(MT-CYB):m.15301G>A
|
rs193302991
|
|
NC_012920.1(MT-CYB):m.15346G>A
|
rs527236180
|
|
NC_012920.1(MT-CYB):m.15349C>A
|
rs527236201
|
|
NC_012920.1(MT-CYB):m.15355G>A
|
rs527236181
|
|
NC_012920.1(MT-CYB):m.15385C>T
|
rs527236183
|
|
NC_012920.1(MT-CYB):m.15553G>A
|
rs527236189
|
|
NC_012920.1(MT-CYB):m.15784T>C
|
rs527236194
|
|
NC_012920.1(MT-TE):m.14732A>G
|
rs527236202
|
|
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.1045_1052del (p.Met349fs)
|
rs1565375817
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
NM_000051.4(ATM):c.1068T>G (p.Val356=)
|
rs1462038794
|
|
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
|
rs2497207173
|
|
NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)
|
rs2497211032
|
|
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)
|
rs876659450
|
|
NM_000051.4(ATM):c.1236-2A>G
|
rs80159221
|
|
NM_000051.4(ATM):c.1333del (p.Gln445fs)
|
rs1060501701
|
|
NM_000051.4(ATM):c.1367del (p.Leu456fs)
|
rs1555070832
|
|
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs)
|
rs1555070947
|
|
NM_000051.4(ATM):c.154G>T (p.Gly52Ter)
|
rs730881362
|
|
NM_000051.4(ATM):c.15del (p.Asn6fs)
|
rs876660842
|
|
NM_000051.4(ATM):c.15dup (p.Asn6Ter)
|
rs876660842
|
|
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter)
|
rs886039644
|
|
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs)
|
rs1057516721
|
|
NM_000051.4(ATM):c.1772dup (p.Asn591fs)
|
rs1591528248
|
|
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer)
|
rs2080230745
|
|
NM_000051.4(ATM):c.1880dup (p.Gln628fs)
|
rs786202474
|
|
NM_000051.4(ATM):c.1881C>T (p.Phe627=)
|
rs1555072574
|
|
NM_000051.4(ATM):c.1882C>T (p.Gln628Ter)
|
rs2135354813
|
|
NM_000051.4(ATM):c.1902A>G (p.Glu634=)
|
rs1060501633
|
|
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs)
|
rs1555073111
|
|
NM_000051.4(ATM):c.192del (p.Leu64fs)
|
rs878853490
|
|
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys)
|
rs754033733
|
|
NM_000051.4(ATM):c.2062G>T (p.Glu688Ter)
|
rs769338089
|
|
NM_000051.4(ATM):c.2125-12del
|
rs1555074807
|
|
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer)
|
rs1555074976
|
|
NM_000051.4(ATM):c.2250+4G>A
|
rs1565395217
|
|
NM_000051.4(ATM):c.2262del (p.Gln754fs)
|
rs2080573967
|
|
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)
|
rs730881348
|
|
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
|
rs730881348
|
|
NM_000051.4(ATM):c.2456del (p.Cys819fs)
|
rs2135422280
|
|
NM_000051.4(ATM):c.2466+1G>A
|
rs914092098
|
|
NM_000051.4(ATM):c.2466+1del
|
rs786202783
|
|
NM_000051.4(ATM):c.24G>A (p.Leu8=)
|
rs1555053888
|
|
NM_000051.4(ATM):c.2500G>T (p.Glu834Ter)
|
rs876660430
|
|
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.2524dup (p.Thr842fs)
|
rs1555082160
|
|
NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter)
|
rs886039633
|
|
NM_000051.4(ATM):c.2620G>T (p.Glu874Ter)
|
rs1565416901
|
|
NM_000051.4(ATM):c.2638+2T>C
|
rs587779826
|
|
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs)
|
rs1064794437
|
|
NM_000051.4(ATM):c.2754del (p.Phe918fs)
|
rs786202608
|
|
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA
|
rs786202148
|
|
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)
|
rs587781545
|
|
NM_000051.4(ATM):c.2921+1G>T
|
rs587781558
|
|
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer)
|
rs1060501600
|
|
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter)
|
rs1555085210
|
|
NM_000051.4(ATM):c.3077+9A>G
|
rs2135555296
|
|
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter)
|
rs587782103
|
|
NM_000051.4(ATM):c.3113dup (p.Arg1039fs)
|
rs2497712869
|
|
NM_000051.4(ATM):c.3154-1G>A
|
rs1555085973
|
|
NM_000051.4(ATM):c.3167C>G (p.Ser1056Ter)
|
rs1565428419
|
|
NM_000051.4(ATM):c.3206del (p.Pro1069fs)
|
rs1060501677
|
|
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs)
|
rs1060501587
|
|
NM_000051.4(ATM):c.3281del (p.Asn1094fs)
|
rs776516754
|
|
NM_000051.4(ATM):c.3284+8dup
|
rs886047611
|
|
NM_000051.4(ATM):c.331+1G>A
|
rs1555055356
|
|
NM_000051.4(ATM):c.331+5G>A
|
rs752135143
|
|
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)
|
rs1057516446
|
|
NM_000051.4(ATM):c.3352del (p.Thr1118fs)
|
rs2082120435
|
|
NM_000051.4(ATM):c.340del (p.Arg114fs)
|
rs2497016267
|
|
NM_000051.4(ATM):c.3422del (p.Pro1141fs)
|
rs2546869322
|
|
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer)
|
rs1555091238
|
|
NM_000051.4(ATM):c.3538del (p.Ser1179_Val1180insTer)
|
rs1555091370
|
|
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs)
|
rs1555091367
|
|
NM_000051.4(ATM):c.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.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.3841del (p.Ser1281fs)
|
rs886039621
|
|
NM_000051.4(ATM):c.3852del (p.Asp1285fs)
|
rs886039605
|
|
NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)
|
rs2546887130
|
|
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)
|
rs2135707910
|
|
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)
|
rs568451087
|
|
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)
|
rs3092841
|
|
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs)
|
rs1555093684
|
|
NM_000051.4(ATM):c.3952del (p.Val1318fs)
|
rs1591646354
|
|
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter)
|
rs587782192
|
|
NM_000051.4(ATM):c.3993+1G>T
|
rs200196781
|
|
NM_000051.4(ATM):c.4000_4006del (p.His1334fs)
|
rs2135735093
|
|
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)
|
rs1057517140
|
|
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer)
|
rs876658248
|
|
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)
|
rs879254189
|
|
NM_000051.4(ATM):c.4110-1G>A
|
rs1060501692
|
|
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)
|
rs141087784
|
|
NM_000051.4(ATM):c.4161dup (p.Ala1388fs)
|
rs2546904297
|
|
NM_000051.4(ATM):c.4227del (p.Ser1411fs)
|
rs587782054
|
|
NM_000051.4(ATM):c.4414_4423del (p.Leu1472fs)
|
rs2546910604
|
|
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
|
rs2082861857
|
|
NM_000051.4(ATM):c.4545C>T (p.Asn1515=)
|
rs764039368
|
|
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)
|
rs2082872908
|
|
NM_000051.4(ATM):c.4625dup (p.Leu1542fs)
|
rs730881304
|
|
NM_000051.4(ATM):c.4661del (p.Asn1554fs)
|
rs1064793390
|
|
NM_000051.4(ATM):c.4776+1G>T
|
rs771117943
|
|
NM_000051.4(ATM):c.4776+2T>A
|
rs587781927
|
|
NM_000051.4(ATM):c.4776+2T>C
|
rs587781927
|
|
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)
|
rs864622290
|
|
NM_000051.4(ATM):c.4938del (p.Lys1646fs)
|
rs587781754
|
|
NM_000051.4(ATM):c.4961T>G (p.Leu1654Ter)
|
rs587781679
|
|
NM_000051.4(ATM):c.4965del (p.Lys1656fs)
|
rs2546954923
|
|
NM_000051.4(ATM):c.5088T>C (p.Tyr1696=)
|
rs786203476
|
|
NM_000051.4(ATM):c.5130G>A (p.Trp1710Ter)
|
rs780816003
|
|
NM_000051.4(ATM):c.5145G>A (p.Leu1715=)
|
rs786202765
|
|
NM_000051.4(ATM):c.5178-4dup
|
rs747750958
|
|
NM_000051.4(ATM):c.5184dup (p.Val1729fs)
|
rs1555105588
|
|
NM_000051.4(ATM):c.5318del (p.Lys1773fs)
|
rs876660289
|
|
NM_000051.4(ATM):c.5319_5319+8delinsTGTTTG
|
rs1064792939
|
|
NM_000051.4(ATM):c.5320-5_5320-2del
|
rs730881310
|
|
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer)
|
rs879254041
|
|
NM_000051.4(ATM):c.5460del (p.Lys1820fs)
|
rs1057516760
|
|
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.5554C>T (p.Gln1852Ter)
|
rs754562056
|
|
NM_000051.4(ATM):c.5674+1G>T
|
rs1565482453
|
|
NM_000051.4(ATM):c.5699_5700del (p.Cys1900fs)
|
rs2547005376
|
|
NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter)
|
rs2135976898
|
|
NM_000051.4(ATM):c.6002T>G (p.Leu2001Ter)
|
rs1555111910
|
|
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)
|
rs375783941
|
|
NM_000051.4(ATM):c.6100C>A (p.Arg2034=)
|
rs532480170
|
|
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)
|
rs864622251
|
|
NM_000051.4(ATM):c.6130A>T (p.Lys2044Ter)
|
rs2136128705
|
|
NM_000051.4(ATM):c.6133del (p.Ala2045fs)
|
rs1555113762
|
|
NM_000051.4(ATM):c.6173C>G (p.Ser2058Ter)
|
rs1555113821
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs)
|
rs1555116381
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)
|
rs1339238483
|
|
NM_000051.4(ATM):c.6450dup (p.Arg2151fs)
|
rs2136222670
|
|
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.6585_6586del (p.His2195fs)
|
rs1555119004
|
|
NM_000051.4(ATM):c.6635_6636del (p.Leu2212fs)
|
rs768909644
|
|
NM_000051.4(ATM):c.680C>G (p.Ser227Ter)
|
rs762998620
|
|
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)
|
rs1565520117
|
|
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
|
rs1555119797
|
|
NM_000051.4(ATM):c.6976-1G>T
|
rs1591141963
|
|
NM_000051.4(ATM):c.6976-2A>C
|
rs587782403
|
|
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs)
|
rs1591142418
|
|
NM_000051.4(ATM):c.710del (p.Thr237fs)
|
rs1060501642
|
|
NM_000051.4(ATM):c.7187_7190del (p.Thr2396fs)
|
rs2547248727
|
|
NM_000051.4(ATM):c.7248C>T (p.Leu2416=)
|
rs750513866
|
|
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs)
|
rs886039628
|
|
NM_000051.4(ATM):c.7307+1G>A
|
rs2086003529
|
|
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)
|
rs786203394
|
|
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)
|
rs876659365
|
|
NM_000051.4(ATM):c.7410T>G (p.Tyr2470Ter)
|
rs1555123144
|
|
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.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.7694dup (p.Asn2565fs)
|
rs1591171790
|
|
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)
|
rs1060501547
|
|
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.7789-3T>G
|
rs864622185
|
|
NM_000051.4(ATM):c.7858del (p.Val2620fs)
|
rs1555125349
|
|
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.7889T>G (p.Leu2630Ter)
|
rs1591178998
|
|
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)
|
rs863224440
|
|
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.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000051.4(ATM):c.8127del (p.Lys2710fs)
|
rs1591192266
|
|
NM_000051.4(ATM):c.8149A>T (p.Lys2717Ter)
|
rs774334667
|
|
NM_000051.4(ATM):c.8152-1G>A
|
rs1398616877
|
|
NM_000051.4(ATM):c.8152-1G>T
|
rs1398616877
|
|
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs)
|
rs1555128432
|
|
NM_000051.4(ATM):c.8291dup (p.Ser2764fs)
|
rs2547415413
|
|
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs)
|
rs879254036
|
|
NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs)
|
rs786202318
|
|
NM_000051.4(ATM):c.8313A>C (p.Thr2771=)
|
rs1555135563
|
|
NM_000051.4(ATM):c.8376del (p.Arg2792fs)
|
rs2547418538
|
|
NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter)
|
rs2137026687
|
|
NM_000051.4(ATM):c.850C>T (p.Gln284Ter)
|
rs757782702
|
|
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del)
|
rs786203976
|
|
NM_000051.4(ATM):c.8615_8616del (p.His2872fs)
|
rs1232259438
|
|
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter)
|
rs1565579084
|
|
NM_000051.4(ATM):c.8695dup (p.Ile2899fs)
|
rs1555142816
|
|
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)
|
rs1555142845
|
|
NM_000051.4(ATM):c.8731dup (p.Thr2911fs)
|
rs2137291352
|
|
NM_000051.4(ATM):c.8787-1G>C
|
rs1591313869
|
|
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs)
|
rs1555143538
|
|
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs)
|
rs786202547
|
|
NM_000051.4(ATM):c.8850+1G>T
|
rs1555143620
|
|
NM_000051.4(ATM):c.8851-1G>T
|
rs1057516537
|
|
NM_000051.4(ATM):c.8942del (p.His2981fs)
|
rs786203489
|
|
NM_000051.4(ATM):c.8967del (p.Glu2990fs)
|
rs2547677906
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000051.4(ATM):c.8del (p.Leu3fs)
|
rs879254052
|
|
NM_000051.4(ATM):c.9007_9034del (p.Asn3003fs)
|
rs2137906600
|
|
NM_000051.4(ATM):c.901+1G>T
|
rs748840480
|
|
NM_000051.4(ATM):c.903T>A (p.Gly301=)
|
rs876659335
|
|
NM_000051.4(ATM):c.9040C>T (p.Gln3014Ter)
|
rs2137911487
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)
|
rs2091249987
|
|
NM_000051.4(ATM):c.9112del (p.Gln3038fs)
|
rs587779878
|
|
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)
|
rs2497178607
|
|
NM_000051.4(ATM):c.9169T>C (p.Ter3057Arg)
|
rs2091262473
|
|
NM_000051.4(ATM):c.947_948del (p.Leu315_Tyr316insTer)
|
rs2135265742
|
|
NM_000051.4(ATM):c.975del (p.His325fs)
|
rs2079883068
|
|
NM_000051.4(ATM):c.977_978del (p.Ile326fs)
|
rs876658832
|
|
NM_000059.4(BRCA2):c.1733del (p.Gly578fs)
|
rs879255326
|
|
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer)
|
rs587779358
|
|
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs)
|
rs886040494
|
|
NM_000059.4(BRCA2):c.464G>A (p.Arg155Lys)
|
rs377639990
|
|
NM_000059.4(BRCA2):c.7095T>A (p.His2365Gln)
|
rs370708814
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
NM_000059.4(BRCA2):c.8331+1G>A
|
rs81002837
|
|
NM_000059.4(BRCA2):c.8954-5A>G
|
rs886040949
|
|
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)
|
rs276174926
|
|
NM_000059.4(BRCA2):c.9998T>C (p.Leu3333Pro)
|
rs1555290016
|
|
NM_000465.4(BARD1):c.1005A>G (p.Arg335=)
|
rs1574818013
|
|
NM_000465.4(BARD1):c.1017C>T (p.Ser339=)
|
rs2106109206
|
|
NM_000465.4(BARD1):c.1023G>A (p.Leu341=)
|
rs1553622298
|
|
NM_000465.4(BARD1):c.1029C>A (p.Thr343=)
|
rs35513316
|
|
NM_000465.4(BARD1):c.1035A>C (p.Gly345=)
|
rs1553622290
|
|
NM_000465.4(BARD1):c.1035A>G (p.Gly345=)
|
rs1553622290
|
|
NM_000465.4(BARD1):c.1038T>C (p.Asp346=)
|
rs1574817811
|
|
NM_000465.4(BARD1):c.1050A>G (p.Gln350=)
|
rs1060501277
|
|
NM_000465.4(BARD1):c.1053G>A (p.Thr351=)
|
rs2070096
|
|
NM_000465.4(BARD1):c.1053G>T (p.Thr351=)
|
rs2070096
|
|
NM_000465.4(BARD1):c.1056G>A (p.Val352=)
|
rs768469265
|
|
NM_000465.4(BARD1):c.1056G>T (p.Val352=)
|
rs768469265
|
|
NM_000465.4(BARD1):c.1059C>A (p.Pro353=)
|
rs368649242
|
|
NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter)
|
rs786202559
|
|
NM_000465.4(BARD1):c.1062A>G (p.Ser354=)
|
rs1057521964
|
|
NM_000465.4(BARD1):c.1065A>G (p.Glu355=)
|
rs1553622270
|
|
NM_000465.4(BARD1):c.1069dup (p.Ile357fs)
|
rs2106108903
|
|
NM_000465.4(BARD1):c.1071A>C (p.Ile357=)
|
rs786202366
|
|
NM_000465.4(BARD1):c.1074A>G (p.Pro358=)
|
rs1553622258
|
|
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)
|
rs28997575
|
|
NM_000465.4(BARD1):c.1080T>C (p.Pro360=)
|
rs2106108809
|
|
NM_000465.4(BARD1):c.1101A>G (p.Ser367=)
|
rs876659194
|
|
NM_000465.4(BARD1):c.1104C>T (p.Cys368=)
|
rs371147849
|
|
NM_000465.4(BARD1):c.1125A>C (p.Thr375=)
|
rs1553622237
|
|
NM_000465.4(BARD1):c.1125A>T (p.Thr375=)
|
rs1553622237
|
|
NM_000465.4(BARD1):c.1128A>G (p.Ser376=)
|
rs1370139675
|
|
NM_000465.4(BARD1):c.1131G>A (p.Gly377=)
|
rs1574817193
|
|
NM_000465.4(BARD1):c.1131G>C (p.Gly377=)
|
rs1574817193
|
|
NM_000465.4(BARD1):c.1140C>T (p.Asn380=)
|
rs2106108484
|
|
NM_000465.4(BARD1):c.1152C>G (p.Ser384=)
|
rs368291318
|
|
NM_000465.4(BARD1):c.1155T>C (p.Asp385=)
|
rs2106108419
|
|
NM_000465.4(BARD1):c.1158A>G (p.Glu386=)
|
rs769665688
|
|
NM_000465.4(BARD1):c.1161C>T (p.Phe387=)
|
rs553790960
|
|
NM_000465.4(BARD1):c.117C>G (p.Ala39=)
|
rs786202271
|
|
NM_000465.4(BARD1):c.117C>T (p.Ala39=)
|
rs786202271
|
|
NM_000465.4(BARD1):c.1188T>C (p.Pro396=)
|
rs876658498
|
|
NM_000465.4(BARD1):c.120G>C (p.Ala40=)
|
rs1559454255
|
|
NM_000465.4(BARD1):c.120G>T (p.Ala40=)
|
rs1559454255
|
|
NM_000465.4(BARD1):c.1215G>A (p.Arg405=)
|
rs1180710928
|
|
NM_000465.4(BARD1):c.1227_1231del (p.Ser410fs)
|
rs1553622160
|
|
NM_000465.4(BARD1):c.1233C>T (p.Pro411=)
|
rs752186689
|
|
NM_000465.4(BARD1):c.123C>G (p.Leu41=)
|
rs764410072
|
|
NM_000465.4(BARD1):c.123C>T (p.Leu41=)
|
rs764410072
|
|
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer)
|
rs1553622145
|
|
NM_000465.4(BARD1):c.1248G>A (p.Leu416=)
|
rs1426931125
|
|
NM_000465.4(BARD1):c.1266G>T (p.Val422=)
|
rs1574816160
|
|
NM_000465.4(BARD1):c.1269A>G (p.Lys423=)
|
rs775490960
|
|
NM_000465.4(BARD1):c.126C>T (p.Asp42=)
|
rs2106170963
|
|
NM_000465.4(BARD1):c.1278T>C (p.His426=)
|
rs2106107680
|
|
NM_000465.4(BARD1):c.1293G>A (p.Leu431=)
|
rs1469464372
|
|
NM_000465.4(BARD1):c.1296C>G (p.Leu432=)
|
rs1694937169
|
|
NM_000465.4(BARD1):c.12T>C (p.Asn4=)
|
rs1289598310
|
|
NM_000465.4(BARD1):c.1308T>A (p.Ser436=)
|
rs786203605
|
|
NM_000465.4(BARD1):c.1308T>C (p.Ser436=)
|
rs786203605
|
|
NM_000465.4(BARD1):c.130C>T (p.Leu44=)
|
rs876658807
|
|
NM_000465.4(BARD1):c.1311T>C (p.Ile437=)
|
rs876659789
|
|
NM_000465.4(BARD1):c.1314+1G>A
|
rs753785671
|
|
NM_000465.4(BARD1):c.1315-19_1315-18inv
|
|
|
NM_000465.4(BARD1):c.1315-5del
|
rs2106081615
|
|
NM_000465.4(BARD1):c.1320C>T (p.Asp440=)
|
rs780136325
|
|
NM_000465.4(BARD1):c.1329T>A (p.Ser443=)
|
rs767154578
|
|
NM_000465.4(BARD1):c.1329del (p.Val444fs)
|
rs767587416
|
|
NM_000465.4(BARD1):c.1338C>T (p.Tyr446=)
|
rs761702998
|
|
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
|
rs1553628365
|
|
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.1350T>C (p.Asn450=)
|
rs876660753
|
|
NM_000465.4(BARD1):c.1353A>G (p.Gly451=)
|
rs369564500
|
|
NM_000465.4(BARD1):c.135G>A (p.Glu45=)
|
rs2469637671
|
|
NM_000465.4(BARD1):c.1392A>C (p.Pro464=)
|
rs2106081063
|
|
NM_000465.4(BARD1):c.1392A>G (p.Pro464=)
|
rs2106081063
|
|
NM_000465.4(BARD1):c.1396-22_1396-19del
|
rs765080315
|
|
NM_000465.4(BARD1):c.1396-27_1396-19del
|
rs2469445143
|
|
NM_000465.4(BARD1):c.13C>A (p.Arg5=)
|
rs766441081
|
|
NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter)
|
rs1553619349
|
|
NM_000465.4(BARD1):c.1407C>T (p.Cys469=)
|
rs1553619349
|
|
NM_000465.4(BARD1):c.1410T>C (p.Asn470=)
|
|
|
NM_000465.4(BARD1):c.1413T>C (p.His471=)
|
rs1574789071
|
|
NM_000465.4(BARD1):c.1419C>T (p.His473=)
|
rs786203473
|
|
NM_000465.4(BARD1):c.1420C>T (p.Leu474=)
|
rs1183978479
|
|
NM_000465.4(BARD1):c.1425G>A (p.Lys475=)
|
rs1057522431
|
|
NM_000465.4(BARD1):c.1428A>G (p.Val476=)
|
rs1057522429
|
|
NM_000465.4(BARD1):c.1438T>C (p.Leu480=)
|
rs786203220
|
|
NM_000465.4(BARD1):c.1443C>G (p.Leu481=)
|
rs1286691671
|
|
NM_000465.4(BARD1):c.144G>T (p.Leu48=)
|
rs151168457
|
|
NM_000465.4(BARD1):c.1455A>G (p.Ala485=)
|
rs1553619298
|
|
NM_000465.4(BARD1):c.1455A>T (p.Ala485=)
|
rs1553619298
|
|
NM_000465.4(BARD1):c.1461G>T (p.Val487=)
|
rs1694272372
|
|
NM_000465.4(BARD1):c.1464C>T (p.Asn488=)
|
rs1694271901
|
|
NM_000465.4(BARD1):c.1467C>A (p.Thr489=)
|
rs1694271621
|
|
NM_000465.4(BARD1):c.1467C>T (p.Thr489=)
|
rs1694271621
|
|
NM_000465.4(BARD1):c.1473G>T (p.Gly491=)
|
rs151080730
|
|
NM_000465.4(BARD1):c.1479A>G (p.Gln493=)
|
rs375029767
|
|
NM_000465.4(BARD1):c.147C>A (p.Arg49=)
|
rs1060504191
|
|
NM_000465.4(BARD1):c.1500T>C (p.Asp500=)
|
rs1694266892
|
|
NM_000465.4(BARD1):c.150C>T (p.Cys50=)
|
rs2106170807
|
|
NM_000465.4(BARD1):c.1519G>A (p.Val507Met)
|
rs2070094
|
|
NM_000465.4(BARD1):c.1530C>T (p.Val510=)
|
rs2469442873
|
|
NM_000465.4(BARD1):c.1536G>C (p.Leu512=)
|
rs2106076362
|
|
NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter)
|
rs2106076340
|
|
NM_000465.4(BARD1):c.153G>A (p.Ser51=)
|
rs761103724
|
|
NM_000465.4(BARD1):c.1543del (p.Ser515fs)
|
rs2469442633
|
|
NM_000465.4(BARD1):c.1545C>G (p.Ser515=)
|
rs777715537
|
|
NM_000465.4(BARD1):c.1545C>T (p.Ser515=)
|
rs777715537
|
|
NM_000465.4(BARD1):c.1551A>G (p.Gly517=)
|
rs2469442511
|
|
NM_000465.4(BARD1):c.1554C>G (p.Ala518=)
|
rs139612775
|
|
NM_000465.4(BARD1):c.1557C>T (p.Ser519=)
|
rs2106076207
|
|
NM_000465.4(BARD1):c.1558A>C (p.Arg520=)
|
rs2106076200
|
|
NM_000465.4(BARD1):c.1568+5G>A
|
rs2106076108
|
|
NM_000465.4(BARD1):c.1569-20dup
|
rs1693510645
|
|
NM_000465.4(BARD1):c.1569-7T>G
|
rs1559395026
|
|
NM_000465.4(BARD1):c.156T>G (p.Arg52=)
|
rs771809792
|
|
NM_000465.4(BARD1):c.158+5A>G
|
rs1057522270
|
|
NM_000465.4(BARD1):c.158+6G>T
|
rs1696451585
|
|
NM_000465.4(BARD1):c.1582C>T (p.Leu528=)
|
rs1693508020
|
|
NM_000465.4(BARD1):c.1587G>A (p.Arg529=)
|
rs532444144
|
|
NM_000465.4(BARD1):c.159-1G>A
|
rs879254139
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
NM_000465.4(BARD1):c.159-2A>C
|
rs1424761304
|
|
NM_000465.4(BARD1):c.1593C>G (p.Val531=)
|
rs564894014
|
|
NM_000465.4(BARD1):c.1599T>C (p.Tyr533=)
|
rs2106039024
|
|
NM_000465.4(BARD1):c.159T>G (p.Cys53Trp)
|
rs201708813
|
|
NM_000465.4(BARD1):c.1602A>G (p.Thr534=)
|
rs1553616398
|
|
NM_000465.4(BARD1):c.1605T>C (p.Asp535=)
|
rs1172740478
|
|
NM_000465.4(BARD1):c.1624C>T (p.Leu542=)
|
rs2106038865
|
|
NM_000465.4(BARD1):c.1627T>C (p.Leu543=)
|
rs2469378258
|
|
NM_000465.4(BARD1):c.1635A>G (p.Leu545=)
|
rs786203364
|
|
NM_000465.4(BARD1):c.1638A>G (p.Pro546=)
|
rs2106038802
|
|
NM_000465.4(BARD1):c.1653A>G (p.Ser551=)
|
rs876660383
|
|
NM_000465.4(BARD1):c.1658C>G (p.Ser553Ter)
|
rs2469377733
|
|
NM_000465.4(BARD1):c.1659A>G (p.Ser553=)
|
rs1262122385
|
|
NM_000465.4(BARD1):c.165C>T (p.Asn55=)
|
rs1553625775
|
|
NM_000465.4(BARD1):c.1662_1665del (p.Ser555fs)
|
rs753537518
|
|
NM_000465.4(BARD1):c.1668C>T (p.His556=)
|
rs2106038572
|
|
NM_000465.4(BARD1):c.1677+5G>A
|
rs587780019
|
|
NM_000465.4(BARD1):c.1678-1G>A
|
rs767208318
|
|
NM_000465.4(BARD1):c.1678-2A>G
|
rs1693089850
|
|
NM_000465.4(BARD1):c.1692G>A (p.Gln564=)
|
rs1168537193
|
|
NM_000465.4(BARD1):c.169C>T (p.Leu57=)
|
rs1559441908
|
|
NM_000465.4(BARD1):c.1701T>C (p.Asp567=)
|
rs1191401261
|
|
NM_000465.4(BARD1):c.1713A>G (p.Val571=)
|
rs1553615162
|
|
NM_000465.4(BARD1):c.1716T>C (p.Leu572=)
|
rs1693084402
|
|
NM_000465.4(BARD1):c.171G>A (p.Leu57=)
|
rs876659045
|
|
NM_000465.4(BARD1):c.1729C>T (p.Leu577=)
|
rs749756887
|
|
NM_000465.4(BARD1):c.1735dup (p.Ser579fs)
|
rs2469342952
|
|
NM_000465.4(BARD1):c.1743A>G (p.Gln581=)
|
rs1060504192
|
|
NM_000465.4(BARD1):c.1755C>T (p.Leu585=)
|
rs2106020941
|
|
NM_000465.4(BARD1):c.1758del (p.Ser586fs)
|
rs1559387024
|
|
NM_000465.4(BARD1):c.1761G>A (p.Glu587=)
|
rs1060501284
|
|
NM_000465.4(BARD1):c.1767A>G (p.Ala589=)
|
rs1553615121
|
|
NM_000465.4(BARD1):c.1767A>T (p.Ala589=)
|
rs1553615121
|
|
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)
|
rs1057517589
|
|
NM_000465.4(BARD1):c.1770A>G (p.Val590=)
|
rs946016547
|
|
NM_000465.4(BARD1):c.177G>A (p.Glu59=)
|
rs1060501307
|
|
NM_000465.4(BARD1):c.1788del (p.Lys596fs)
|
rs1574739005
|
|
NM_000465.4(BARD1):c.1794T>C (p.Thr598=)
|
rs1553615105
|
|
NM_000465.4(BARD1):c.1797G>A (p.Glu599=)
|
rs1317068399
|
|
NM_000465.4(BARD1):c.1811-16dup
|
rs760333316
|
|
NM_000465.4(BARD1):c.1811-2A>G
|
rs1693044156
|
|
NM_000465.4(BARD1):c.1824T>C (p.Val608=)
|
rs1268678327
|
|
NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)
|
rs2469338229
|
|
NM_000465.4(BARD1):c.183G>A (p.Val61=)
|
rs2106145654
|
|
NM_000465.4(BARD1):c.1845A>G (p.Gln615=)
|
rs1693040542
|
|
NM_000465.4(BARD1):c.1866T>C (p.Leu622=)
|
rs368195514
|
|
NM_000465.4(BARD1):c.1869G>A (p.Gly623=)
|
rs759973077
|
|
NM_000465.4(BARD1):c.1872del (p.Leu625fs)
|
rs876659572
|
|
NM_000465.4(BARD1):c.1875C>A (p.Leu625=)
|
rs1396679779
|
|
NM_000465.4(BARD1):c.1878T>C (p.Asn626=)
|
rs1553614944
|
|
NM_000465.4(BARD1):c.1881A>G (p.Gly627=)
|
rs968535447
|
|
NM_000465.4(BARD1):c.189A>G (p.Leu63=)
|
rs2106145609
|
|
NM_000465.4(BARD1):c.1903+1G>A
|
rs876660237
|
|
NM_000465.4(BARD1):c.1904-2A>T
|
rs864622239
|
|
NM_000465.4(BARD1):c.1914A>C (p.Ala638=)
|
rs876658489
|
|
NM_000465.4(BARD1):c.1914A>G (p.Ala638=)
|
rs876658489
|
|
NM_000465.4(BARD1):c.1918C>T (p.Leu640=)
|
rs1553612535
|
|
NM_000465.4(BARD1):c.1920A>C (p.Leu640=)
|
rs780901872
|
|
NM_000465.4(BARD1):c.1923A>G (p.Arg641=)
|
rs2105990818
|
|
NM_000465.4(BARD1):c.1924A>C (p.Arg642=)
|
rs765487816
|
|
NM_000465.4(BARD1):c.1926A>G (p.Arg642=)
|
rs1553612528
|
|
NM_000465.4(BARD1):c.1932A>G (p.Val644=)
|
rs1274554835
|
|
NM_000465.4(BARD1):c.1935T>C (p.Cys645=)
|
rs1553612524
|
|
NM_000465.4(BARD1):c.1935_1954del (p.Cys645_Glu652delinsTer)
|
rs587780024
|
|
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)
|
rs587780024
|
|
NM_000465.4(BARD1):c.1939C>T (p.Gln647Ter)
|
rs1350570988
|
|
NM_000465.4(BARD1):c.1941G>A (p.Gln647=)
|
|
|
NM_000465.4(BARD1):c.1950G>A (p.Lys650=)
|
rs1692302613
|
|
NM_000465.4(BARD1):c.195A>T (p.Gly65=)
|
rs1574847294
|
|
NM_000465.4(BARD1):c.1970del (p.Pro657fs)
|
rs786203739
|
|
NM_000465.4(BARD1):c.1980C>T (p.Ser660=)
|
rs1574706765
|
|
NM_000465.4(BARD1):c.1983G>A (p.Arg661=)
|
rs1553612481
|
|
NM_000465.4(BARD1):c.1986C>T (p.Leu662=)
|
rs1553612477
|
|
NM_000465.4(BARD1):c.1989C>T (p.Asn663=)
|
rs587782767
|
|
NM_000465.4(BARD1):c.1995A>G (p.Glu665=)
|
rs2105990404
|
|
NM_000465.4(BARD1):c.2001+3A>G
|
rs1553612461
|
|
NM_000465.4(BARD1):c.2002-1G>A
|
rs762601855
|
|
NM_000465.4(BARD1):c.2002-2A>C
|
rs876658260
|
|
NM_000465.4(BARD1):c.2002-2A>T
|
rs876658260
|
|
NM_000465.4(BARD1):c.2013G>C (p.Leu671=)
|
rs759021562
|
|
NM_000465.4(BARD1):c.2013G>T (p.Leu671=)
|
rs759021562
|
|
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter)
|
rs1328046615
|
|
NM_000465.4(BARD1):c.2022A>G (p.Gly674=)
|
rs1574703887
|
|
NM_000465.4(BARD1):c.2024del (p.Cys675fs)
|
rs2105987971
|
|
NM_000465.4(BARD1):c.2034T>C (p.Tyr678=)
|
rs1057523192
|
|
NM_000465.4(BARD1):c.2036T>A (p.Leu679Ter)
|
rs1692227690
|
|
NM_000465.4(BARD1):c.2038_2042del (p.Trp680fs)
|
rs1553612222
|
|
NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter)
|
rs1559372578
|
|
NM_000465.4(BARD1):c.2058_2061del (p.His686fs)
|
rs2105987749
|
|
NM_000465.4(BARD1):c.2061A>G (p.Pro687=)
|
rs750597867
|
|
NM_000465.4(BARD1):c.2063dup (p.Asp689fs)
|
rs1064796026
|
|
NM_000465.4(BARD1):c.2067C>T (p.Asp689=)
|
rs1692224260
|
|
NM_000465.4(BARD1):c.2070C>T (p.Asn690=)
|
rs1574703626
|
|
NM_000465.4(BARD1):c.2076T>A (p.Ile692=)
|
rs587781316
|
|
NM_000465.4(BARD1):c.2085C>T (p.Val695=)
|
rs2105987601
|
|
NM_000465.4(BARD1):c.2094T>C (p.Gly698=)
|
rs1057523211
|
|
NM_000465.4(BARD1):c.2094T>G (p.Gly698=)
|
rs1057523211
|
|
NM_000465.4(BARD1):c.2097G>A (p.Gly699=)
|
rs876659210
|
|
NM_000465.4(BARD1):c.2100C>T (p.Gly700=)
|
rs1692220418
|
|
NM_000465.4(BARD1):c.2104_2111del (p.Gln701_Ile702insTer)
|
rs2469270376
|
|
NM_000465.4(BARD1):c.2106C>G (p.Ile702Met)
|
rs1559372357
|
|
NM_000465.4(BARD1):c.2109C>T (p.Leu703=)
|
rs2105987417
|
|
NM_000465.4(BARD1):c.2127A>G (p.Pro709=)
|
rs1574703232
|
|
NM_000465.4(BARD1):c.2129_2132del (p.Asp710fs)
|
rs1692216921
|
|
NM_000465.4(BARD1):c.212G>A (p.Cys71Tyr)
|
rs1064793959
|
|
NM_000465.4(BARD1):c.2143C>T (p.Gln715Ter)
|
rs1553612164
|
|
NM_000465.4(BARD1):c.2144dup (p.Thr716fs)
|
rs1574703115
|
|
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs)
|
rs786203811
|
|
NM_000465.4(BARD1):c.215+13G>A
|
rs886055601
|
|
NM_000465.4(BARD1):c.215+9T>G
|
rs1559441723
|
|
NM_000465.4(BARD1):c.2154T>C (p.Asn718=)
|
rs2469269683
|
|
NM_000465.4(BARD1):c.2157A>G (p.Thr719=)
|
rs1574703001
|
|
NM_000465.4(BARD1):c.2159_2172del (p.Val720fs)
|
rs1692211675
|
|
NM_000465.4(BARD1):c.216-10T>C
|
rs2106135644
|
|
NM_000465.4(BARD1):c.216-14T>C
|
rs775103922
|
|
NM_000465.4(BARD1):c.216-14del
|
rs56130510
|
|
NM_000465.4(BARD1):c.216-1G>T
|
rs876658905
|
|
NM_000465.4(BARD1):c.2160C>T (p.Val720=)
|
rs137888190
|
|
NM_000465.4(BARD1):c.2163A>C (p.Ala721=)
|
rs786202805
|
|
NM_000465.4(BARD1):c.2163A>G (p.Ala721=)
|
rs786202805
|
|
NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter)
|
rs2105987094
|
|
NM_000465.4(BARD1):c.2166C>T (p.Tyr722=)
|
rs2105987094
|
|
NM_000465.4(BARD1):c.2169T>C (p.His723=)
|
rs779808630
|
|
NM_000465.4(BARD1):c.2172G>A (p.Ala724=)
|
rs143331809
|
|
NM_000465.4(BARD1):c.2178C>A (p.Pro726=)
|
rs201873551
|
|
NM_000465.4(BARD1):c.2178C>G (p.Pro726=)
|
rs201873551
|
|
NM_000465.4(BARD1):c.2184T>C (p.Ser728=)
|
rs1559372027
|
|
NM_000465.4(BARD1):c.2184T>G (p.Ser728=)
|
rs1559372027
|
|
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)
|
rs76744638
|
|
NM_000465.4(BARD1):c.2205G>A (p.Gln735=)
|
rs1574702556
|
|
NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter)
|
rs2105986813
|
|
NM_000465.4(BARD1):c.2215dup (p.Tyr739fs)
|
rs2469268815
|
|
NM_000465.4(BARD1):c.2223T>C (p.Asp741=)
|
rs1692203425
|
|
NM_000465.4(BARD1):c.2226G>A (p.Leu742=)
|
rs1064793606
|
|
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter)
|
rs1259296823
|
|
NM_000465.4(BARD1):c.222T>C (p.Cys74=)
|
rs1168791343
|
|
NM_000465.4(BARD1):c.2241A>G (p.Pro747=)
|
rs2469268432
|
|
NM_000465.4(BARD1):c.2247G>A (p.Arg749=)
|
rs1057520455
|
|
NM_000465.4(BARD1):c.2259C>T (p.Gly753=)
|
rs753441393
|
|
NM_000465.4(BARD1):c.2268G>A (p.Trp756Ter)
|
rs786202118
|
|
NM_000465.4(BARD1):c.2268del (p.Val755_Trp756insTer)
|
rs1559371635
|
|
NM_000465.4(BARD1):c.2277T>C (p.Pro759=)
|
rs766070611
|
|
NM_000465.4(BARD1):c.2280G>C (p.Ser760=)
|
rs749959440
|
|
NM_000465.4(BARD1):c.2295C>T (p.Asp765=)
|
rs1692192527
|
|
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)
|
rs750413473
|
|
NM_000465.4(BARD1):c.2301G>A (p.Val767=)
|
rs2105986191
|
|
NM_000465.4(BARD1):c.2301G>C (p.Val767=)
|
rs2105986191
|
|
NM_000465.4(BARD1):c.2307C>T (p.Ser769=)
|
rs1060504197
|
|
NM_000465.4(BARD1):c.2322T>C (p.Pro774=)
|
rs2469266845
|
|
NM_000465.4(BARD1):c.2331C>T (p.Ser777=)
|
rs1692188549
|
|
NM_000465.4(BARD1):c.2333G>A (p.Ter778=)
|
rs776958611
|
|
NM_000465.4(BARD1):c.246A>G (p.Gly82=)
|
rs1695565956
|
|
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg)
|
rs1559437198
|
|
NM_000465.4(BARD1):c.249T>C (p.Cys83=)
|
rs1574839902
|
|
NM_000465.4(BARD1):c.252A>G (p.Pro84=)
|
rs786202670
|
|
NM_000465.4(BARD1):c.255G>A (p.Val85=)
|
rs769046326
|
|
NM_000465.4(BARD1):c.264C>T (p.Thr88=)
|
rs1695564144
|
|
NM_000465.4(BARD1):c.26_40del (p.4_8NRQPR[1])
|
rs587781979
|
|
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter)
|
rs1559437094
|
|
NM_000465.4(BARD1):c.288G>A (p.Lys96=)
|
rs1553624778
|
|
NM_000465.4(BARD1):c.297A>G (p.Arg99=)
|
rs878854010
|
|
NM_000465.4(BARD1):c.315T>A (p.Ile105=)
|
rs1695557391
|
|
NM_000465.4(BARD1):c.318A>G (p.Gln106=)
|
rs1178885131
|
|
NM_000465.4(BARD1):c.336A>C (p.Arg112=)
|
rs776586419
|
|
NM_000465.4(BARD1):c.345A>G (p.Leu115=)
|
rs771012953
|
|
NM_000465.4(BARD1):c.357G>A (p.Glu119=)
|
rs1553624706
|
|
NM_000465.4(BARD1):c.362C>G (p.Ser121Ter)
|
rs2469560081
|
|
NM_000465.4(BARD1):c.365-14_365-13dup
|
rs776103948
|
|
NM_000465.4(BARD1):c.365-14dup
|
rs776103948
|
|
NM_000465.4(BARD1):c.365-16del
|
rs2469515156
|
|
NM_000465.4(BARD1):c.365-8del
|
rs776103948
|
|
NM_000465.4(BARD1):c.369G>A (p.Leu123=)
|
rs1060504195
|
|
NM_000465.4(BARD1):c.372A>G (p.Lys124=)
|
rs1553622726
|
|
NM_000465.4(BARD1):c.378T>C (p.Asp126=)
|
rs1435093585
|
|
NM_000465.4(BARD1):c.384T>C (p.Pro128=)
|
rs2106112667
|
|
NM_000465.4(BARD1):c.396G>A (p.Leu132=)
|
rs1553622703
|
|
NM_000465.4(BARD1):c.39G>A (p.Arg13=)
|
rs770217979
|
|
NM_000465.4(BARD1):c.408A>G (p.Ala136=)
|
rs878854012
|
|
NM_000465.4(BARD1):c.420G>A (p.Lys140=)
|
rs758749603
|
|
NM_000465.4(BARD1):c.423T>C (p.Asn141=)
|
rs2106112492
|
|
NM_000465.4(BARD1):c.429T>A (p.Ile143=)
|
rs1695029571
|
|
NM_000465.4(BARD1):c.42C>T (p.Ile14=)
|
rs746266678
|
|
NM_000465.4(BARD1):c.450A>C (p.Arg150=)
|
rs2106112364
|
|
NM_000465.4(BARD1):c.456G>A (p.Lys152=)
|
rs2106112336
|
|
NM_000465.4(BARD1):c.459A>G (p.Lys153=)
|
rs2106112328
|
|
NM_000465.4(BARD1):c.45C>A (p.Arg15=)
|
rs786201402
|
|
NM_000465.4(BARD1):c.46_68dup (p.Ala25fs)
|
rs1553628445
|
|
NM_000465.4(BARD1):c.474G>A (p.Val158=)
|
rs1553622657
|
|
NM_000465.4(BARD1):c.486A>G (p.Ser162=)
|
rs1574821298
|
|
NM_000465.4(BARD1):c.48C>G (p.Ser16=)
|
rs770753803
|
|
NM_000465.4(BARD1):c.492A>G (p.Gln164=)
|
rs1241515847
|
|
NM_000465.4(BARD1):c.495C>G (p.Thr165=)
|
rs1574821249
|
|
NM_000465.4(BARD1):c.495C>T (p.Thr165=)
|
rs1574821249
|
|
NM_000465.4(BARD1):c.498G>A (p.Gln166=)
|
rs1574821230
|
|
NM_000465.4(BARD1):c.501T>A (p.Pro167=)
|
rs1574821214
|
|
NM_000465.4(BARD1):c.507A>T (p.Ile169=)
|
rs2106112077
|
|
NM_000465.4(BARD1):c.513dup (p.Asp172fs)
|
rs746325928
|
|
NM_000465.4(BARD1):c.51G>C (p.Gly17=)
|
rs864622419
|
|
NM_000465.4(BARD1):c.51G>T (p.Gly17=)
|
rs864622419
|
|
NM_000465.4(BARD1):c.522T>C (p.Ser174=)
|
rs1060504190
|
|
NM_000465.4(BARD1):c.537A>C (p.Ser179=)
|
rs786202959
|
|
NM_000465.4(BARD1):c.537A>G (p.Ser179=)
|
rs786202959
|
|
NM_000465.4(BARD1):c.537A>T (p.Ser179=)
|
rs786202959
|
|
NM_000465.4(BARD1):c.543A>G (p.Glu181=)
|
rs1574820966
|
|
NM_000465.4(BARD1):c.54C>A (p.Asn18Lys)
|
rs587780032
|
|
NM_000465.4(BARD1):c.54C>T (p.Asn18=)
|
rs587780032
|
|
NM_000465.4(BARD1):c.552C>T (p.Ser184=)
|
rs1060504193
|
|
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)
|
rs752514155
|
|
NM_000465.4(BARD1):c.564T>C (p.Pro188=)
|
rs748511245
|
|
NM_000465.4(BARD1):c.567A>G (p.Ala189=)
|
rs878854015
|
|
NM_000465.4(BARD1):c.580_581del (p.Arg194fs)
|
rs2469511702
|
|
NM_000465.4(BARD1):c.591G>A (p.Lys197=)
|
rs1695014095
|
|
NM_000465.4(BARD1):c.606T>C (p.Ser202=)
|
rs762810549
|
|
NM_000465.4(BARD1):c.609A>G (p.Gly203=)
|
rs28997574
|
|
NM_000465.4(BARD1):c.618A>G (p.Gln206=)
|
rs1559425566
|
|
NM_000465.4(BARD1):c.630T>A (p.Thr210=)
|
rs1574820293
|
|
NM_000465.4(BARD1):c.632T>G (p.Leu211Ter)
|
rs762171436
|
|
NM_000465.4(BARD1):c.636T>C (p.Ala212=)
|
rs2106111263
|
|
NM_000465.4(BARD1):c.648A>G (p.Gln216=)
|
rs954825746
|
|
NM_000465.4(BARD1):c.653G>A (p.Trp218Ter)
|
rs1553622534
|
|
NM_000465.4(BARD1):c.672A>G (p.Lys224=)
|
rs1574820067
|
|
NM_000465.4(BARD1):c.676G>C (p.Asp226His)
|
rs876659965
|
|
NM_000465.4(BARD1):c.678T>C (p.Asp226=)
|
rs1574820006
|
|
NM_000465.4(BARD1):c.690C>T (p.Asp230=)
|
rs587780034
|
|
NM_000465.4(BARD1):c.693C>T (p.Ser231=)
|
rs2106110948
|
|
NM_000465.4(BARD1):c.696A>G (p.Lys232=)
|
|
|
NM_000465.4(BARD1):c.699G>A (p.Glu233=)
|
rs1002531703
|
|
NM_000465.4(BARD1):c.6G>A (p.Pro2=)
|
rs876660278
|
|
NM_000465.4(BARD1):c.702A>G (p.Glu234=)
|
rs786202878
|
|
NM_000465.4(BARD1):c.716del (p.Leu239fs)
|
rs2106110871
|
|
NM_000465.4(BARD1):c.71C>G (p.Pro24Arg)
|
rs863224674
|
|
NM_000465.4(BARD1):c.72C>A (p.Pro24=)
|
rs2106171466
|
|
NM_000465.4(BARD1):c.732C>T (p.Ser244=)
|
rs774675180
|
|
NM_000465.4(BARD1):c.747C>T (p.Ile249=)
|
rs746551077
|
|
NM_000465.4(BARD1):c.789T>C (p.Ser263=)
|
rs1345594874
|
|
NM_000465.4(BARD1):c.792C>T (p.Gly264=)
|
rs1276619198
|
|
NM_000465.4(BARD1):c.807T>A (p.Ser269=)
|
rs1420328641
|
|
NM_000465.4(BARD1):c.828T>C (p.Thr276=)
|
rs1574819148
|
|
NM_000465.4(BARD1):c.838_839del (p.Leu280fs)
|
rs876659752
|
|
NM_000465.4(BARD1):c.840A>G (p.Leu280=)
|
rs2106110219
|
|
NM_000465.4(BARD1):c.844T>C (p.Leu282=)
|
rs1574819001
|
|
NM_000465.4(BARD1):c.84G>A (p.Pro28=)
|
rs746695035
|
|
NM_000465.4(BARD1):c.84G>T (p.Pro28=)
|
rs746695035
|
|
NM_000465.4(BARD1):c.852G>A (p.Glu284=)
|
rs2106110152
|
|
NM_000465.4(BARD1):c.860_861del (p.Glu287fs)
|
rs786201868
|
|
NM_000465.4(BARD1):c.862_863insGG (p.Ser288fs)
|
rs1478133549
|
|
NM_000465.4(BARD1):c.870C>T (p.Asp290=)
|
rs1694985290
|
|
NM_000465.4(BARD1):c.873T>G (p.Thr291=)
|
rs1574818810
|
|
NM_000465.4(BARD1):c.873dup (p.Lys292Ter)
|
rs1553622378
|
|
NM_000465.4(BARD1):c.876G>A (p.Lys292=)
|
rs1449269582
|
|
NM_000465.4(BARD1):c.885T>C (p.Asn295=)
|
rs1433418104
|
|
NM_000465.4(BARD1):c.903G>A (p.Glu301=)
|
rs1694982551
|
|
NM_000465.4(BARD1):c.906G>A (p.Lys302=)
|
rs1412871752
|
|
NM_000465.4(BARD1):c.909C>T (p.Val303=)
|
rs751581520
|
|
NM_000465.4(BARD1):c.912C>T (p.Cys304=)
|
rs1694981725
|
|
NM_000465.4(BARD1):c.924T>G (p.Leu308=)
|
rs758559877
|
|
NM_000465.4(BARD1):c.927A>G (p.Thr309=)
|
rs863224365
|
|
NM_000465.4(BARD1):c.939T>C (p.Ser313=)
|
rs765858289
|
|
NM_000465.4(BARD1):c.93C>A (p.Arg31=)
|
rs778803692
|
|
NM_000465.4(BARD1):c.93C>G (p.Arg31=)
|
rs778803692
|
|
NM_000465.4(BARD1):c.945A>G (p.Pro315=)
|
rs876660284
|
|
NM_000465.4(BARD1):c.948A>G (p.Leu316=)
|
rs1553622329
|
|
NM_000465.4(BARD1):c.969C>G (p.Gly323=)
|
rs1553622322
|
|
NM_000465.4(BARD1):c.969C>T (p.Gly323=)
|
rs1553622322
|
|
NM_000465.4(BARD1):c.972T>C (p.His324=)
|
rs2469505934
|
|
NM_000465.4(BARD1):c.987C>T (p.Ser329=)
|
rs747190023
|
|
NM_007194.3(CHEK2):c.909delG
|
rs1057517596
|
|
NM_007194.4(CHEK2):c.1002T>C (p.Ala334=)
|
rs1601738112
|
|
NM_007194.4(CHEK2):c.1009-14G>C
|
rs1172442364
|
|
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs)
|
rs2145817185
|
|
NM_007194.4(CHEK2):c.1050A>G (p.Pro350=)
|
rs1555914312
|
|
NM_007194.4(CHEK2):c.1056T>C (p.Asn352=)
|
rs1060502709
|
|
NM_007194.4(CHEK2):c.105C>T (p.Ser35=)
|
rs1057521541
|
|
NM_007194.4(CHEK2):c.1062A>G (p.Leu354=)
|
rs1427613188
|
|
NM_007194.4(CHEK2):c.1063C>T (p.Leu355=)
|
rs786201130
|
|
NM_007194.4(CHEK2):c.1102G>A (p.Asp368Asn)
|
rs755127902
|
|
NM_007194.4(CHEK2):c.1110G>A (p.Gly370=)
|
rs1555913920
|
|
NM_007194.4(CHEK2):c.1110G>T (p.Gly370=)
|
rs1555913920
|
|
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)
|
rs2052563898
|
|
NM_007194.4(CHEK2):c.1113C>T (p.His371=)
|
rs876659094
|
|
NM_007194.4(CHEK2):c.1116C>A (p.Ser372=)
|
rs79357544
|
|
NM_007194.4(CHEK2):c.1123T>C (p.Leu375=)
|
rs2052563996
|
|
NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter)
|
rs2145806157
|
|
NM_007194.4(CHEK2):c.1128A>G (p.Gly376=)
|
rs1555913880
|
|
NM_007194.4(CHEK2):c.1140C>T (p.Leu380=)
|
rs2145805584
|
|
NM_007194.4(CHEK2):c.1147A>G (p.Thr383Ala)
|
rs769439021
|
|
NM_007194.4(CHEK2):c.1152A>G (p.Leu384=)
|
rs1060502715
|
|
NM_007194.4(CHEK2):c.1159A>G (p.Thr387Ala)
|
rs771387164
|
|
NM_007194.4(CHEK2):c.1164C>T (p.Pro388=)
|
rs878854911
|
|
NM_007194.4(CHEK2):c.1167C>A (p.Thr389=)
|
rs1314236188
|
|
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys)
|
rs200928781
|
|
NM_007194.4(CHEK2):c.1173G>A (p.Leu391=)
|
rs2145804298
|
|
NM_007194.4(CHEK2):c.1176G>T (p.Ala392=)
|
rs142692907
|
|
NM_007194.4(CHEK2):c.117C>T (p.Ser39=)
|
rs2146151376
|
|
NM_007194.4(CHEK2):c.1188del (p.Val397fs)
|
rs753159426
|
|
NM_007194.4(CHEK2):c.1209G>A (p.Gly403=)
|
rs1350419049
|
|
NM_007194.4(CHEK2):c.1209G>T (p.Gly403=)
|
rs1350419049
|
|
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs)
|
rs1555913672
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
|
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter)
|
rs1248967885
|
|
NM_007194.4(CHEK2):c.1239A>G (p.Leu413=)
|
rs867238570
|
|
NM_007194.4(CHEK2):c.1248T>A (p.Ile416=)
|
rs1601721811
|
|
NM_007194.4(CHEK2):c.1259+1G>C
|
rs121908707
|
|
NM_007194.4(CHEK2):c.126T>A (p.Ser42=)
|
rs1601853112
|
|
NM_007194.4(CHEK2):c.1272T>C (p.Tyr424=)
|
rs1257494163
|
|
NM_007194.4(CHEK2):c.1275A>G (p.Pro425=)
|
rs28601856
|
|
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)
|
rs1569112324
|
|
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter)
|
rs771772104
|
|
NM_007194.4(CHEK2):c.1296T>C (p.Thr432=)
|
rs2145795034
|
|
NM_007194.4(CHEK2):c.129C>T (p.Thr43=)
|
rs786202779
|
|
NM_007194.4(CHEK2):c.1302G>A (p.Val434=)
|
rs1060504693
|
|
NM_007194.4(CHEK2):c.1305A>G (p.Ser435=)
|
rs2145794786
|
|
NM_007194.4(CHEK2):c.1308G>A (p.Leu436=)
|
rs2145794670
|
|
NM_007194.4(CHEK2):c.1311G>A (p.Lys437=)
|
|
|
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)
|
rs778989252
|
|
NM_007194.4(CHEK2):c.1335C>T (p.Tyr445=)
|
rs1601719469
|
|
NM_007194.4(CHEK2):c.1359A>G (p.Ala453=)
|
rs1555913419
|
|
NM_007194.4(CHEK2):c.135G>A (p.Thr45=)
|
rs745423387
|
|
NM_007194.4(CHEK2):c.1362A>G (p.Glu454=)
|
rs1057520523
|
|
NM_007194.4(CHEK2):c.1365C>G (p.Val455=)
|
rs1287444894
|
|
NM_007194.4(CHEK2):c.1368A>T (p.Ser456=)
|
rs1057523229
|
|
NM_007194.4(CHEK2):c.1377T>C (p.Ala459=)
|
rs786201296
|
|
NM_007194.4(CHEK2):c.1392G>A (p.Lys464=)
|
rs764396738
|
|
NM_007194.4(CHEK2):c.1395G>A (p.Lys465=)
|
rs1601716508
|
|
NM_007194.4(CHEK2):c.1422T>C (p.Arg474=)
|
|
|
NM_007194.4(CHEK2):c.1425T>C (p.Phe475=)
|
rs1601716189
|
|
NM_007194.4(CHEK2):c.1428G>A (p.Thr476=)
|
rs1060504697
|
|
NM_007194.4(CHEK2):c.1428G>C (p.Thr476=)
|
rs1060504697
|
|
NM_007194.4(CHEK2):c.1437A>G (p.Glu479=)
|
rs2145784828
|
|
NM_007194.4(CHEK2):c.1443A>G (p.Leu481=)
|
rs1555913096
|
|
NM_007194.4(CHEK2):c.1449C>T (p.His483=)
|
rs1555913081
|
|
NM_007194.4(CHEK2):c.1452del (p.Trp485fs)
|
rs2145784297
|
|
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter)
|
rs1601715852
|
|
NM_007194.4(CHEK2):c.1461+1G>A
|
rs886039629
|
|
NM_007194.4(CHEK2):c.1461+5G>A
|
rs769841229
|
|
NM_007194.4(CHEK2):c.1462-2A>G
|
rs587782575
|
|
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs)
|
rs1555912044
|
|
NM_007194.4(CHEK2):c.1492del (p.Leu498fs)
|
rs2052245881
|
|
NM_007194.4(CHEK2):c.1497G>A (p.Leu499=)
|
rs587780890
|
|
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs)
|
rs757016287
|
|
NM_007194.4(CHEK2):c.1500T>C (p.Ser500=)
|
rs1057521300
|
|
NM_007194.4(CHEK2):c.1501del (p.Glu501fs)
|
rs1131691045
|
|
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs)
|
rs587782707
|
|
NM_007194.4(CHEK2):c.1503G>A (p.Glu501=)
|
rs1060502721
|
|
NM_007194.4(CHEK2):c.1506A>G (p.Glu502=)
|
rs1555912021
|
|
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)
|
rs587782489
|
|
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter)
|
rs587782489
|
|
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs)
|
rs1555912001
|
|
NM_007194.4(CHEK2):c.1527C>T (p.Pro509=)
|
rs1346924016
|
|
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter)
|
rs886039512
|
|
NM_007194.4(CHEK2):c.1533T>G (p.Val511=)
|
rs2145748251
|
|
NM_007194.4(CHEK2):c.1534C>T (p.Leu512=)
|
rs17882942
|
|
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
|
rs2145748011
|
|
NM_007194.4(CHEK2):c.1543-9_1546del
|
rs1555911638
|
|
NM_007194.4(CHEK2):c.1545T>G (p.Pro515=)
|
rs1601698296
|
|
NM_007194.4(CHEK2):c.1548T>C (p.Ser516=)
|
rs2145739425
|
|
NM_007194.4(CHEK2):c.1551T>A (p.Thr517=)
|
rs2145739341
|
|
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.1560G>A (p.Lys520=)
|
rs1601698058
|
|
NM_007194.4(CHEK2):c.1569T>A (p.Arg523=)
|
rs748954413
|
|
NM_007194.4(CHEK2):c.1575G>A (p.Gly525=)
|
rs770307891
|
|
NM_007194.4(CHEK2):c.1587T>C (p.Gly529=)
|
rs1601697668
|
|
NM_007194.4(CHEK2):c.1590C>A (p.Ala530=)
|
rs786201796
|
|
NM_007194.4(CHEK2):c.1590C>G (p.Ala530=)
|
rs786201796
|
|
NM_007194.4(CHEK2):c.1596C>A (p.Thr532=)
|
rs2145737656
|
|
NM_007194.4(CHEK2):c.1602G>A (p.Lys534=)
|
rs1569102099
|
|
NM_007194.4(CHEK2):c.1611T>A (p.Ala537=)
|
rs1057521299
|
|
NM_007194.4(CHEK2):c.1614G>A (p.Val538=)
|
rs750337711
|
|
NM_007194.4(CHEK2):c.1620T>C (p.Ala540=)
|
rs1194893297
|
|
NM_007194.4(CHEK2):c.1623T>G (p.Ala541=)
|
rs773670297
|
|
NM_007194.4(CHEK2):c.1629G>A (p.Leu543=)
|
rs2517746590
|
|
NM_007194.4(CHEK2):c.171T>C (p.Ser57=)
|
rs1555932401
|
|
NM_007194.4(CHEK2):c.180G>A (p.Leu60=)
|
rs2146148626
|
|
NM_007194.4(CHEK2):c.186C>T (p.Ser62=)
|
rs786203025
|
|
NM_007194.4(CHEK2):c.18T>C (p.Asp6=)
|
rs1555932937
|
|
NM_007194.4(CHEK2):c.195A>C (p.Thr65=)
|
rs1411341011
|
|
NM_007194.4(CHEK2):c.1A>G (p.Met1Val)
|
rs863224748
|
|
NM_007194.4(CHEK2):c.1A>T (p.Met1Leu)
|
rs863224748
|
|
NM_007194.4(CHEK2):c.204T>C (p.Thr68=)
|
rs1601852195
|
|
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter)
|
rs768384031
|
|
NM_007194.4(CHEK2):c.213C>G (p.Leu71=)
|
rs1057524667
|
|
NM_007194.4(CHEK2):c.222T>C (p.Ile74=)
|
rs876659629
|
|
NM_007194.4(CHEK2):c.225T>C (p.Pro75=)
|
rs1217608176
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
NM_007194.4(CHEK2):c.240T>G (p.Pro80=)
|
rs878854918
|
|
NM_007194.4(CHEK2):c.243G>A (p.Glu81=)
|
rs1060504690
|
|
NM_007194.4(CHEK2):c.247del (p.Gln83fs)
|
rs587782766
|
|
NM_007194.4(CHEK2):c.24G>A (p.Glu8=)
|
rs780920036
|
|
NM_007194.4(CHEK2):c.261G>A (p.Glu87=)
|
rs2146145556
|
|
NM_007194.4(CHEK2):c.276C>G (p.Pro92=)
|
rs1478388236
|
|
NM_007194.4(CHEK2):c.27T>C (p.Ala9=)
|
rs876660497
|
|
NM_007194.4(CHEK2):c.27T>G (p.Ala9=)
|
rs876660497
|
|
NM_007194.4(CHEK2):c.286T>C (p.Leu96=)
|
rs1555932127
|
|
NM_007194.4(CHEK2):c.300G>A (p.Gln100=)
|
rs1456691189
|
|
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)
|
rs1349961118
|
|
NM_007194.4(CHEK2):c.320-1G>T
|
rs864622613
|
|
NM_007194.4(CHEK2):c.336C>T (p.Asn112=)
|
rs1060502689
|
|
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer)
|
rs1555927312
|
|
NM_007194.4(CHEK2):c.369T>C (p.Tyr123=)
|
rs2146070088
|
|
NM_007194.4(CHEK2):c.36T>C (p.Ser12=)
|
rs1555932896
|
|
NM_007194.4(CHEK2):c.384A>G (p.Pro128=)
|
rs766409666
|
|
NM_007194.4(CHEK2):c.388C>T (p.Leu130=)
|
rs1057522274
|
|
NM_007194.4(CHEK2):c.390G>A (p.Leu130=)
|
rs1057522435
|
|
NM_007194.4(CHEK2):c.393A>G (p.Lys131=)
|
rs2146068876
|
|
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile)
|
rs786203977
|
|
NM_007194.4(CHEK2):c.411A>C (p.Arg137=)
|
rs1060504695
|
|
NM_007194.4(CHEK2):c.411A>G (p.Arg137=)
|
|
|
NM_007194.4(CHEK2):c.414A>C (p.Thr138=)
|
rs876658162
|
|
NM_007194.4(CHEK2):c.414A>G (p.Thr138=)
|
rs876658162
|
|
NM_007194.4(CHEK2):c.426A>G (p.Lys142=)
|
rs1601825176
|
|
NM_007194.4(CHEK2):c.432del (p.Arg145fs)
|
rs1555927148
|
|
NM_007194.4(CHEK2):c.433C>A (p.Arg145=)
|
rs137853007
|
|
NM_007194.4(CHEK2):c.435G>T (p.Arg145=)
|
rs746314542
|
|
NM_007194.4(CHEK2):c.444+1G>T
|
rs121908698
|
|
NM_007194.4(CHEK2):c.444+1del
|
rs1064793780
|
|
NM_007194.4(CHEK2):c.444+2T>C
|
rs560596101
|
|
NM_007194.4(CHEK2):c.449del (p.Val150fs)
|
rs1601824270
|
|
NM_007194.4(CHEK2):c.474A>C (p.Ala158=)
|
rs745699485
|
|
NM_007194.4(CHEK2):c.474A>G (p.Ala158=)
|
rs745699485
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007194.4(CHEK2):c.483A>G (p.Glu161=)
|
rs1601823895
|
|
NM_007194.4(CHEK2):c.48T>C (p.Ser16=)
|
rs958282985
|
|
NM_007194.4(CHEK2):c.498T>C (p.Asn166=)
|
rs759868962
|
|
NM_007194.4(CHEK2):c.516A>G (p.Thr172=)
|
rs2146059358
|
|
NM_007194.4(CHEK2):c.51C>A (p.Ala17=)
|
rs1601853973
|
|
NM_007194.4(CHEK2):c.51C>T (p.Ala17=)
|
rs1601853973
|
|
NM_007194.4(CHEK2):c.537A>G (p.Lys179=)
|
rs2146058652
|
|
NM_007194.4(CHEK2):c.549G>A (p.Leu183=)
|
rs745646057
|
|
NM_007194.4(CHEK2):c.54T>C (p.Cys18=)
|
rs1057523962
|
|
NM_007194.4(CHEK2):c.561T>C (p.Ser187=)
|
rs1555926782
|
|
NM_007194.4(CHEK2):c.570A>T (p.Ala190=)
|
rs754689169
|
|
NM_007194.4(CHEK2):c.576A>G (p.Ser192=)
|
rs1555926751
|
|
NM_007194.4(CHEK2):c.579A>G (p.Leu193=)
|
rs1569157233
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007194.4(CHEK2):c.592+13T>C
|
rs1057521311
|
|
NM_007194.4(CHEK2):c.592+17A>G
|
rs2053934609
|
|
NM_007194.4(CHEK2):c.592+5TAT[2]
|
rs1555926697
|
|
NM_007194.4(CHEK2):c.592G>C (p.Val198Leu)
|
rs1555926708
|
|
NM_007194.4(CHEK2):c.593-11_593-7del
|
rs863224414
|
|
NM_007194.4(CHEK2):c.593-14C>G
|
rs145754558
|
|
NM_007194.4(CHEK2):c.593-15T>A
|
rs757717459
|
|
NM_007194.4(CHEK2):c.593-1G>C
|
rs786203229
|
|
NM_007194.4(CHEK2):c.597T>C (p.Phe199=)
|
rs2146007453
|
|
NM_007194.4(CHEK2):c.599T>C (p.Val200Ala)
|
rs2053696720
|
|
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.612G>T (p.Leu204=)
|
rs752876192
|
|
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)
|
rs1346554630
|
|
NM_007194.4(CHEK2):c.621T>C (p.Asp207=)
|
rs1555924486
|
|
NM_007194.4(CHEK2):c.624T>C (p.Asp208=)
|
rs1555924474
|
|
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter)
|
rs1569149953
|
|
NM_007194.4(CHEK2):c.642G>A (p.Lys214=)
|
rs1569149867
|
|
NM_007194.4(CHEK2):c.654T>C (p.Asp218=)
|
rs907621837
|
|
NM_007194.4(CHEK2):c.657A>G (p.Glu219=)
|
rs1222043566
|
|
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)
|
rs750616657
|
|
NM_007194.4(CHEK2):c.66T>C (p.His22=)
|
rs2146153897
|
|
NM_007194.4(CHEK2):c.683+1G>T
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+2T>C
|
rs781021132
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
NM_007194.4(CHEK2):c.696dup (p.Glu233fs)
|
rs1601784008
|
|
NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter)
|
rs753972711
|
|
NM_007194.4(CHEK2):c.69C>T (p.Gly23=)
|
rs865997083
|
|
NM_007194.4(CHEK2):c.700_712del (p.Val234fs)
|
rs2517962830
|
|
NM_007194.4(CHEK2):c.705G>A (p.Lys235=)
|
rs1555921297
|
|
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer)
|
rs1392940377
|
|
NM_007194.4(CHEK2):c.72C>T (p.Ser24=)
|
rs759679862
|
|
NM_007194.4(CHEK2):c.750C>A (p.Ile250=)
|
rs1601783180
|
|
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)
|
rs786201896
|
|
NM_007194.4(CHEK2):c.75T>C (p.Val25=)
|
rs1555932812
|
|
NM_007194.4(CHEK2):c.762G>T (p.Arg254Ser)
|
rs878854922
|
|
NM_007194.4(CHEK2):c.765G>A (p.Lys255=)
|
rs750596640
|
|
NM_007194.4(CHEK2):c.777T>C (p.Gly259=)
|
rs876659828
|
|
NM_007194.4(CHEK2):c.786A>G (p.Arg262=)
|
rs2145948918
|
|
NM_007194.4(CHEK2):c.78C>G (p.Thr26=)
|
rs876658717
|
|
NM_007194.4(CHEK2):c.78C>T (p.Thr26=)
|
rs876658717
|
|
NM_007194.4(CHEK2):c.792A>G (p.Ala264=)
|
rs2053406573
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
NM_007194.4(CHEK2):c.793-21_793-20del
|
rs1719605865
|
|
NM_007194.4(CHEK2):c.793-2A>G
|
rs1555920257
|
|
NM_007194.4(CHEK2):c.804C>T (p.Leu268=)
|
rs2145933872
|
|
NM_007194.4(CHEK2):c.810T>C (p.Val270=)
|
rs1601777666
|
|
NM_007194.4(CHEK2):c.823del (p.Glu275fs)
|
rs769430546
|
|
NM_007194.4(CHEK2):c.838C>T (p.Leu280=)
|
rs2145932680
|
|
NM_007194.4(CHEK2):c.840A>G (p.Leu280=)
|
rs2517942453
|
|
NM_007194.4(CHEK2):c.846+1G>T
|
rs864622149
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007194.4(CHEK2):c.847-6T>G
|
rs1555917050
|
|
NM_007194.4(CHEK2):c.849T>G (p.Pro283=)
|
rs2052982778
|
|
NM_007194.4(CHEK2):c.84C>A (p.Ser28=)
|
rs863224415
|
|
NM_007194.4(CHEK2):c.84C>T (p.Ser28=)
|
rs863224415
|
|
NM_007194.4(CHEK2):c.852C>T (p.Cys284=)
|
rs1555917031
|
|
NM_007194.4(CHEK2):c.855C>T (p.Ile285=)
|
rs756692505
|
|
NM_007194.4(CHEK2):c.860del (p.Lys287fs)
|
rs886039731
|
|
NM_007194.4(CHEK2):c.865A>T (p.Lys289Ter)
|
rs2517886828
|
|
NM_007194.4(CHEK2):c.879T>C (p.Asp293=)
|
rs1601752583
|
|
NM_007194.4(CHEK2):c.87A>G (p.Gln29=)
|
rs951525447
|
|
NM_007194.4(CHEK2):c.882A>G (p.Ala294=)
|
rs2052978138
|
|
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del)
|
rs771860071
|
|
NM_007194.4(CHEK2):c.885A>G (p.Glu295=)
|
rs1555916935
|
|
NM_007194.4(CHEK2):c.891T>C (p.Tyr297=)
|
rs2517885679
|
|
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)
|
rs876659519
|
|
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)
|
rs886039739
|
|
NM_007194.4(CHEK2):c.902del (p.Leu301fs)
|
rs748005072
|
|
NM_007194.4(CHEK2):c.906del (p.Glu302fs)
|
rs2052974883
|
|
NM_007194.4(CHEK2):c.909-28_909-20del
|
rs1555915597
|
|
NM_007194.4(CHEK2):c.90C>T (p.Gly30=)
|
rs1555932724
|
|
NM_007194.4(CHEK2):c.918G>C (p.Gly306=)
|
rs1057523756
|
|
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.919_920dup (p.Leu309fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.924G>A (p.Glu308=)
|
rs1601739269
|
|
NM_007194.4(CHEK2):c.925C>T (p.Leu309=)
|
rs786202521
|
|
NM_007194.4(CHEK2):c.927G>A (p.Leu309=)
|
rs746952353
|
|
NM_007194.4(CHEK2):c.939G>A (p.Val313=)
|
rs1555915485
|
|
NM_007194.4(CHEK2):c.942G>A (p.Val314=)
|
rs1057520467
|
|
NM_007194.4(CHEK2):c.945G>T (p.Gly315=)
|
rs876659711
|
|
NM_007194.4(CHEK2):c.951A>G (p.Lys317=)
|
rs2145843565
|
|
NM_007194.4(CHEK2):c.954C>G (p.Arg318=)
|
rs1601738778
|
|
NM_007194.4(CHEK2):c.955C>T (p.Leu319=)
|
rs1057524600
|
|
NM_007194.4(CHEK2):c.960A>G (p.Lys320=)
|
rs1237880782
|
|
NM_007194.4(CHEK2):c.96C>G (p.Ser32=)
|
rs1601853447
|
|
NM_007194.4(CHEK2):c.975G>A (p.Lys325=)
|
rs2145842576
|
|
NM_007194.4(CHEK2):c.978C>T (p.Leu326=)
|
rs1057521868
|
|
NM_024675.4(PALB2):c.101G>T (p.Arg34Leu)
|
rs144944814
|
|
NM_024675.4(PALB2):c.1020T>C (p.Asn340=)
|
rs748432666
|
|
NM_024675.4(PALB2):c.102C>T (p.Arg34=)
|
rs1555462102
|
|
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)
|
rs375699023
|
|
NM_024675.4(PALB2):c.1044A>G (p.Gln348=)
|
rs1597097374
|
|
NM_024675.4(PALB2):c.104T>C (p.Leu35Pro)
|
rs141047069
|
|
NM_024675.4(PALB2):c.1053A>C (p.Thr351=)
|
rs1555461480
|
|
NM_024675.4(PALB2):c.1068A>G (p.Lys356=)
|
rs2142426828
|
|
NM_024675.4(PALB2):c.108+2T>G
|
rs2142459705
|
|
NM_024675.4(PALB2):c.1080C>T (p.Asp360=)
|
rs1415958873
|
|
NM_024675.4(PALB2):c.1089T>C (p.Asp363=)
|
rs1597097155
|
|
NM_024675.4(PALB2):c.109-12T>A
|
rs774949203
|
|
NM_024675.4(PALB2):c.109-1G>A
|
rs2142458017
|
|
NM_024675.4(PALB2):c.109-2A>G
|
rs730881897
|
|
NM_024675.4(PALB2):c.1093A>C (p.Arg365=)
|
rs773001248
|
|
NM_024675.4(PALB2):c.1095G>A (p.Arg365=)
|
rs515726062
|
|
NM_024675.4(PALB2):c.1114dup (p.Ser372fs)
|
rs1060499815
|
|
NM_024675.4(PALB2):c.1117del (p.Glu373fs)
|
rs2506488340
|
|
NM_024675.4(PALB2):c.111T>C (p.Arg37=)
|
rs1555462089
|
|
NM_024675.4(PALB2):c.1123C>T (p.Leu375=)
|
rs373298267
|
|
NM_024675.4(PALB2):c.1125A>C (p.Leu375=)
|
rs767284930
|
|
NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter)
|
rs929474806
|
|
NM_024675.4(PALB2):c.1131A>G (p.Gln377=)
|
rs2142425052
|
|
NM_024675.4(PALB2):c.1155A>G (p.Ala385=)
|
rs1555461431
|
|
NM_024675.4(PALB2):c.1167T>C (p.Leu389=)
|
rs2142423985
|
|
NM_024675.4(PALB2):c.1170T>A (p.Ser390=)
|
rs1597096863
|
|
NM_024675.4(PALB2):c.1176A>G (p.Glu392=)
|
rs1555461423
|
|
NM_024675.4(PALB2):c.1179del (p.Lys393fs)
|
rs1567221417
|
|
NM_024675.4(PALB2):c.117A>G (p.Gln39=)
|
rs1967104762
|
|
NM_024675.4(PALB2):c.1182T>C (p.His394=)
|
rs772960995
|
|
NM_024675.4(PALB2):c.1194G>T (p.Val398=)
|
rs61755173
|
|
NM_024675.4(PALB2):c.1203C>T (p.Gly401=)
|
rs1418142337
|
|
NM_024675.4(PALB2):c.1209G>A (p.Leu403=)
|
rs786202452
|
|
NM_024675.4(PALB2):c.1209G>C (p.Leu403=)
|
rs786202452
|
|
NM_024675.4(PALB2):c.1221A>G (p.Glu407=)
|
rs1597096669
|
|
NM_024675.4(PALB2):c.1227T>A (p.Tyr409Ter)
|
rs1555461386
|
|
NM_024675.4(PALB2):c.1227T>C (p.Tyr409=)
|
rs1555461386
|
|
NM_024675.4(PALB2):c.123T>A (p.Ala41=)
|
rs1967104067
|
|
NM_024675.4(PALB2):c.123del (p.Glu42fs)
|
rs1967104136
|
|
NM_024675.4(PALB2):c.1242A>G (p.Arg414=)
|
rs875989795
|
|
NM_024675.4(PALB2):c.1272C>G (p.Ala424=)
|
rs754720030
|
|
NM_024675.4(PALB2):c.1275G>A (p.Val425=)
|
rs1597096529
|
|
NM_024675.4(PALB2):c.1278G>A (p.Glu426=)
|
rs1555461362
|
|
NM_024675.4(PALB2):c.1285A>G (p.Ile429Val)
|
rs1555461360
|
|
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter)
|
rs1555461358
|
|
NM_024675.4(PALB2):c.1305C>T (p.Val435=)
|
rs1597096444
|
|
NM_024675.4(PALB2):c.1317G>A (p.Gly439=)
|
rs515726066
|
|
NM_024675.4(PALB2):c.1317G>T (p.Gly439=)
|
rs515726066
|
|
NM_024675.4(PALB2):c.1347A>G (p.Lys449=)
|
rs587780205
|
|
NM_024675.4(PALB2):c.1353A>G (p.Leu451=)
|
rs1966974752
|
|
NM_024675.4(PALB2):c.1356C>T (p.Asn452=)
|
rs1555461327
|
|
NM_024675.4(PALB2):c.135G>A (p.Lys45=)
|
rs753270291
|
|
NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter)
|
rs1060502785
|
|
NM_024675.4(PALB2):c.1368G>A (p.Glu456=)
|
rs1555461319
|
|
NM_024675.4(PALB2):c.1371A>G (p.Glu457=)
|
rs1555461314
|
|
NM_024675.4(PALB2):c.1376A>G (p.Asp459Gly)
|
rs1031787378
|
|
NM_024675.4(PALB2):c.1377C>T (p.Asp459=)
|
rs771002573
|
|
NM_024675.4(PALB2):c.1401C>T (p.Gly467=)
|
rs1555461301
|
|
NM_024675.4(PALB2):c.1404A>G (p.Thr468=)
|
rs1567221054
|
|
NM_024675.4(PALB2):c.1421G>A (p.Ser474Asn)
|
rs786201806
|
|
NM_024675.4(PALB2):c.1425A>G (p.Ser475=)
|
|
|
NM_024675.4(PALB2):c.1434_1435del (p.Gln479fs)
|
rs2506477651
|
|
NM_024675.4(PALB2):c.1437_1438del (p.Lys480fs)
|
rs1555461280
|
|
NM_024675.4(PALB2):c.1440A>G (p.Lys480=)
|
rs2142415876
|
|
NM_024675.4(PALB2):c.1443T>C (p.Leu481=)
|
rs2142415807
|
|
NM_024675.4(PALB2):c.1458A>G (p.Lys486=)
|
rs1555461270
|
|
NM_024675.4(PALB2):c.1470C>G (p.Pro490=)
|
rs45612837
|
|
NM_024675.4(PALB2):c.1471G>A (p.Ala491Thr)
|
rs577969558
|
|
NM_024675.4(PALB2):c.1478C>T (p.Pro493Leu)
|
rs770965402
|
|
NM_024675.4(PALB2):c.1485del (p.Asp496fs)
|
rs1555461256
|
|
NM_024675.4(PALB2):c.1488T>C (p.Asp496=)
|
rs1381339723
|
|
NM_024675.4(PALB2):c.1490del (p.Asn497fs)
|
rs1555461253
|
|
NM_024675.4(PALB2):c.1491T>C (p.Asn497=)
|
rs374707677
|
|
NM_024675.4(PALB2):c.1492G>A (p.Asp498Asn)
|
rs75023630
|
|
NM_024675.4(PALB2):c.1495T>C (p.Leu499=)
|
rs1597095836
|
|
NM_024675.4(PALB2):c.1497G>A (p.Leu499=)
|
rs748315431
|
|
NM_024675.4(PALB2):c.1500T>C (p.Ser500=)
|
rs1555461248
|
|
NM_024675.4(PALB2):c.1506G>A (p.Lys502=)
|
rs371142570
|
|
NM_024675.4(PALB2):c.1515C>G (p.Ala505=)
|
rs745837198
|
|
NM_024675.4(PALB2):c.1515C>T (p.Ala505=)
|
rs745837198
|
|
NM_024675.4(PALB2):c.1518A>G (p.Gln506=)
|
rs1555461234
|
|
NM_024675.4(PALB2):c.1524T>C (p.Pro508=)
|
rs1597095768
|
|
NM_024675.4(PALB2):c.1539A>T (p.Thr513=)
|
rs786202974
|
|
NM_024675.4(PALB2):c.1563C>T (p.Thr521=)
|
rs864622170
|
|
NM_024675.4(PALB2):c.1566A>G (p.Pro522=)
|
rs1597095620
|
|
NM_024675.4(PALB2):c.156A>G (p.Val52=)
|
rs2142456776
|
|
NM_024675.4(PALB2):c.1578T>C (p.His526=)
|
rs45603832
|
|
NM_024675.4(PALB2):c.1581T>C (p.Cys527=)
|
rs2142411961
|
|
NM_024675.4(PALB2):c.1587A>C (p.Pro529=)
|
rs1597095555
|
|
NM_024675.4(PALB2):c.1587A>G (p.Pro529=)
|
rs1597095555
|
|
NM_024675.4(PALB2):c.1596A>C (p.Pro532=)
|
rs2142411606
|
|
NM_024675.4(PALB2):c.15C>G (p.Pro5=)
|
rs876658438
|
|
NM_024675.4(PALB2):c.15C>T (p.Pro5=)
|
rs876658438
|
|
NM_024675.4(PALB2):c.1610C>A (p.Ser537Ter)
|
rs142103232
|
|
NM_024675.4(PALB2):c.1611G>C (p.Ser537=)
|
rs730881874
|
|
NM_024675.4(PALB2):c.1617T>C (p.Val539=)
|
rs776807758
|
|
NM_024675.4(PALB2):c.1620C>T (p.Asn540=)
|
rs771815436
|
|
NM_024675.4(PALB2):c.1621A>C (p.Arg541=)
|
rs1597095457
|
|
NM_024675.4(PALB2):c.1638C>T (p.Val546=)
|
rs876659604
|
|
NM_024675.4(PALB2):c.1641_1669del (p.Ser548fs)
|
rs2506469663
|
|
NM_024675.4(PALB2):c.1646A>G (p.His549Arg)
|
rs1597095334
|
|
NM_024675.4(PALB2):c.1647C>G (p.His549Gln)
|
rs747842085
|
|
NM_024675.4(PALB2):c.1647C>T (p.His549=)
|
rs747842085
|
|
NM_024675.4(PALB2):c.1650A>G (p.Lys550=)
|
rs1060504716
|
|
NM_024675.4(PALB2):c.1653T>C (p.Tyr551=)
|
rs118203997
|
|
NM_024675.4(PALB2):c.1656G>A (p.Gln552=)
|
rs180177104
|
|
NM_024675.4(PALB2):c.1659C>T (p.His553=)
|
rs370318597
|
|
NM_024675.4(PALB2):c.1665A>G (p.Lys555=)
|
rs45518838
|
|
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer)
|
rs515726073
|
|
NM_024675.4(PALB2):c.1684+1G>A
|
rs1555461148
|
|
NM_024675.4(PALB2):c.1685-1G>A
|
rs1057520645
|
|
NM_024675.4(PALB2):c.1685-1G>C
|
rs1057520645
|
|
NM_024675.4(PALB2):c.168T>C (p.Asp56=)
|
rs1203135643
|
|
NM_024675.4(PALB2):c.1692A>G (p.Lys564=)
|
rs786201842
|
|
NM_024675.4(PALB2):c.1698T>C (p.Arg566=)
|
rs373141871
|
|
NM_024675.4(PALB2):c.1709_1710del (p.Glu570fs)
|
rs1597091425
|
|
NM_024675.4(PALB2):c.1710G>A (p.Glu570=)
|
rs1555460688
|
|
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)
|
rs730881876
|
|
NM_024675.4(PALB2):c.172T>C (p.Leu58=)
|
rs1597101395
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.1737T>G (p.Ala579=)
|
rs1597091336
|
|
NM_024675.4(PALB2):c.1741T>C (p.Leu581=)
|
rs2142390373
|
|
NM_024675.4(PALB2):c.1746C>T (p.Ser582=)
|
rs1057520985
|
|
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp)
|
rs587782151
|
|
NM_024675.4(PALB2):c.1752T>C (p.Asp584=)
|
rs1060504717
|
|
NM_024675.4(PALB2):c.1755T>C (p.Asp585=)
|
rs786203049
|
|
NM_024675.4(PALB2):c.1758T>C (p.Asp586=)
|
rs864622567
|
|
NM_024675.4(PALB2):c.1773A>G (p.Pro591=)
|
rs1597091237
|
|
NM_024675.4(PALB2):c.1779T>C (p.His593=)
|
rs1475548158
|
|
NM_024675.4(PALB2):c.177T>C (p.Ser59=)
|
rs1060504707
|
|
NM_024675.4(PALB2):c.1803G>A (p.Lys601=)
|
rs1555460643
|
|
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter)
|
rs876660475
|
|
NM_024675.4(PALB2):c.1812G>A (p.Leu604=)
|
rs1057522269
|
|
NM_024675.4(PALB2):c.1815T>C (p.Ser605=)
|
rs1597091095
|
|
NM_024675.4(PALB2):c.1821C>T (p.Leu607=)
|
rs1555460634
|
|
NM_024675.4(PALB2):c.1836T>C (p.Phe612=)
|
rs2142388126
|
|
NM_024675.4(PALB2):c.1838del (p.Gln613fs)
|
rs1057517602
|
|
NM_024675.4(PALB2):c.1848T>C (p.Asp616=)
|
rs863224428
|
|
NM_024675.4(PALB2):c.1857T>C (p.Phe619=)
|
rs1555460623
|
|
NM_024675.4(PALB2):c.1863T>C (p.Pro621=)
|
rs587780819
|
|
NM_024675.4(PALB2):c.1869G>A (p.Lys623=)
|
rs1555460612
|
|
NM_024675.4(PALB2):c.1872T>C (p.Leu624=)
|
rs758409916
|
|
NM_024675.4(PALB2):c.1875A>G (p.Glu625=)
|
rs1555460606
|
|
NM_024675.4(PALB2):c.1881G>T (p.Val627=)
|
rs139362268
|
|
NM_024675.4(PALB2):c.1887C>T (p.Ser629=)
|
rs1966864226
|
|
NM_024675.4(PALB2):c.1893A>G (p.Ser631=)
|
rs2506432081
|
|
NM_024675.4(PALB2):c.1896A>G (p.Glu632=)
|
rs2142386584
|
|
NM_024675.4(PALB2):c.1899A>G (p.Lys633=)
|
rs765063761
|
|
NM_024675.4(PALB2):c.189C>T (p.Leu63=)
|
rs1788725990
|
|
NM_024675.4(PALB2):c.18G>A (p.Gly6=)
|
rs587782462
|
|
NM_024675.4(PALB2):c.18G>T (p.Gly6=)
|
rs587782462
|
|
NM_024675.4(PALB2):c.1902A>G (p.Pro634=)
|
rs876658768
|
|
NM_024675.4(PALB2):c.1911C>G (p.Pro637=)
|
rs1567218530
|
|
NM_024675.4(PALB2):c.1911C>T (p.Pro637=)
|
rs1567218530
|
|
NM_024675.4(PALB2):c.1917G>A (p.Glu639=)
|
rs1597090787
|
|
NM_024675.4(PALB2):c.1917G>T (p.Glu639Asp)
|
rs1597090787
|
|
NM_024675.4(PALB2):c.1920A>T (p.Ser640=)
|
rs375575311
|
|
NM_024675.4(PALB2):c.1924del (p.Met642fs)
|
rs730881865
|
|
NM_024675.4(PALB2):c.1929T>C (p.Phe643=)
|
rs995715653
|
|
NM_024675.4(PALB2):c.1941T>C (p.His647=)
|
rs745467835
|
|
NM_024675.4(PALB2):c.1944T>C (p.Leu648=)
|
rs200296117
|
|
NM_024675.4(PALB2):c.1947dup (p.Glu650fs)
|
rs515726075
|
|
NM_024675.4(PALB2):c.1953A>G (p.Gly651=)
|
rs1555460575
|
|
NM_024675.4(PALB2):c.1962T>C (p.Ile654=)
|
rs1555460568
|
|
NM_024675.4(PALB2):c.1968A>G (p.Pro656=)
|
rs756275403
|
|
NM_024675.4(PALB2):c.1968A>T (p.Pro656=)
|
rs756275403
|
|
NM_024675.4(PALB2):c.1969_1981dup (p.Pro661fs)
|
rs1966862408
|
|
NM_024675.4(PALB2):c.1974A>G (p.Glu658=)
|
rs1057522241
|
|
NM_024675.4(PALB2):c.1983T>G (p.Pro661=)
|
rs2142384272
|
|
NM_024675.4(PALB2):c.1989C>T (p.Arg663=)
|
rs1057522230
|
|
NM_024675.4(PALB2):c.1A>G (p.Met1Val)
|
rs879254144
|
|
NM_024675.4(PALB2):c.2017G>A (p.Glu673Lys)
|
rs1236182341
|
|
NM_024675.4(PALB2):c.201A>G (p.Leu67=)
|
rs1057520340
|
|
NM_024675.4(PALB2):c.2020_2021del (p.Asp674fs)
|
rs2142383242
|
|
NM_024675.4(PALB2):c.2022C>T (p.Asp674=)
|
|
|
NM_024675.4(PALB2):c.2028T>C (p.Ile676=)
|
rs763937788
|
|
NM_024675.4(PALB2):c.2040A>C (p.Gly680=)
|
rs1597090358
|
|
NM_024675.4(PALB2):c.2043A>G (p.Lys681=)
|
rs1057524569
|
|
NM_024675.4(PALB2):c.2046A>G (p.Ser682=)
|
rs1442566697
|
|
NM_024675.4(PALB2):c.205C>T (p.His69Tyr)
|
rs879253891
|
|
NM_024675.4(PALB2):c.2064C>T (p.Asn688=)
|
rs2142382120
|
|
NM_024675.4(PALB2):c.2066C>T (p.Ser689Leu)
|
rs749602688
|
|
NM_024675.4(PALB2):c.2067G>T (p.Ser689=)
|
rs371149159
|
|
NM_024675.4(PALB2):c.2076G>A (p.Gln692=)
|
rs876660531
|
|
NM_024675.4(PALB2):c.2088G>A (p.Thr696=)
|
rs747270311
|
|
NM_024675.4(PALB2):c.2093T>C (p.Leu698Pro)
|
rs1966860685
|
|
NM_024675.4(PALB2):c.2100A>C (p.Ser700=)
|
rs757145884
|
|
NM_024675.4(PALB2):c.2100A>G (p.Ser700=)
|
rs757145884
|
|
NM_024675.4(PALB2):c.2109_2112del (p.Leu703fs)
|
rs2142380816
|
|
NM_024675.4(PALB2):c.2112T>A (p.Leu704=)
|
rs876659598
|
|
NM_024675.4(PALB2):c.2115T>C (p.Tyr705=)
|
rs1370808088
|
|
NM_024675.4(PALB2):c.212-16dup
|
rs766487430
|
|
NM_024675.4(PALB2):c.212-1G>A
|
rs1597099910
|
|
NM_024675.4(PALB2):c.212-24TA[4]
|
rs751741705
|
|
NM_024675.4(PALB2):c.212-2A>C
|
rs730881879
|
|
NM_024675.4(PALB2):c.212-3C>T
|
rs878855106
|
|
NM_024675.4(PALB2):c.2127T>C (p.Asn709=)
|
rs1597090047
|
|
NM_024675.4(PALB2):c.2130G>A (p.Thr710=)
|
rs774049060
|
|
NM_024675.4(PALB2):c.2130G>T (p.Thr710=)
|
rs774049060
|
|
NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys)
|
rs770145849
|
|
NM_024675.4(PALB2):c.2148T>C (p.Asn716=)
|
rs770145849
|
|
NM_024675.4(PALB2):c.2160C>G (p.Thr720=)
|
rs1430544638
|
|
NM_024675.4(PALB2):c.2163A>G (p.Thr721=)
|
rs587781105
|
|
NM_024675.4(PALB2):c.2166C>T (p.Asp722=)
|
rs768901359
|
|
NM_024675.4(PALB2):c.2178T>C (p.Pro726=)
|
rs863224429
|
|
NM_024675.4(PALB2):c.2190C>T (p.Ile730=)
|
|
|
NM_024675.4(PALB2):c.2202T>C (p.Thr734=)
|
rs1278216949
|
|
NM_024675.4(PALB2):c.2202T>G (p.Thr734=)
|
rs1278216949
|
|
NM_024675.4(PALB2):c.2208C>T (p.Ala736=)
|
rs369113809
|
|
NM_024675.4(PALB2):c.2214C>T (p.Gly738=)
|
rs1555460448
|
|
NM_024675.4(PALB2):c.2217T>C (p.Pro739=)
|
rs876660727
|
|
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)
|
rs1555460445
|
|
NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter)
|
rs730881888
|
|
NM_024675.4(PALB2):c.2232A>G (p.Glu744=)
|
rs1047622969
|
|
NM_024675.4(PALB2):c.2238A>G (p.Ala746=)
|
rs1597089677
|
|
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.2268C>T (p.Cys756=)
|
rs1567217721
|
|
NM_024675.4(PALB2):c.226del (p.Ile76fs)
|
rs587782443
|
|
NM_024675.4(PALB2):c.2271A>G (p.Thr757=)
|
rs786201971
|
|
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.2295C>T (p.Asp765=)
|
rs2142376232
|
|
NM_024675.4(PALB2):c.2298dup (p.Val767fs)
|
rs1555460407
|
|
NM_024675.4(PALB2):c.2349A>G (p.Ala783=)
|
rs2142375025
|
|
NM_024675.4(PALB2):c.2353_2354del (p.Pro785fs)
|
rs2142374907
|
|
NM_024675.4(PALB2):c.2364C>A (p.Thr788=)
|
rs1597089226
|
|
NM_024675.4(PALB2):c.2367G>A (p.Leu789=)
|
rs780985758
|
|
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)
|
rs1060502748
|
|
NM_024675.4(PALB2):c.2379C>G (p.Gly793=)
|
rs377626805
|
|
NM_024675.4(PALB2):c.2382G>A (p.Arg794=)
|
rs786203837
|
|
NM_024675.4(PALB2):c.2383C>G (p.Gln795Glu)
|
rs1966856854
|
|
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter)
|
rs1060502768
|
|
NM_024675.4(PALB2):c.2391del (p.Gln797fs)
|
rs1555460360
|
|
NM_024675.4(PALB2):c.2405del (p.Cys802fs)
|
rs1966856604
|
|
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)
|
rs747148023
|
|
NM_024675.4(PALB2):c.2418G>T (p.Pro806=)
|
rs577076372
|
|
NM_024675.4(PALB2):c.2424A>C (p.Gly808=)
|
rs1060504714
|
|
NM_024675.4(PALB2):c.2427A>C (p.Thr809=)
|
rs768064297
|
|
NM_024675.4(PALB2):c.243G>A (p.Lys81=)
|
rs1060502775
|
|
NM_024675.4(PALB2):c.2445A>G (p.Ser815=)
|
rs1567217255
|
|
NM_024675.4(PALB2):c.2451T>G (p.Thr817=)
|
rs2142372740
|
|
NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs)
|
rs1555460325
|
|
NM_024675.4(PALB2):c.2463delinsAA (p.Asn821fs)
|
rs2506404426
|
|
NM_024675.4(PALB2):c.2466G>A (p.Gln822=)
|
rs1157451265
|
|
NM_024675.4(PALB2):c.2469C>A (p.Leu823=)
|
rs515726087
|
|
NM_024675.4(PALB2):c.2469C>G (p.Leu823=)
|
rs515726087
|
|
NM_024675.4(PALB2):c.2470del (p.Cys824fs)
|
rs876658348
|
|
NM_024675.4(PALB2):c.2481A>C (p.Thr827=)
|
rs876658885
|
|
NM_024675.4(PALB2):c.2481A>T (p.Thr827=)
|
rs876658885
|
|
NM_024675.4(PALB2):c.2493G>A (p.Leu831=)
|
rs749001322
|
|
NM_024675.4(PALB2):c.249C>T (p.His83=)
|
rs1057523390
|
|
NM_024675.4(PALB2):c.2502T>C (p.His834=)
|
rs1060504703
|
|
NM_024675.4(PALB2):c.2505C>A (p.Ser835=)
|
rs756502783
|
|
NM_024675.4(PALB2):c.2505C>G (p.Ser835=)
|
rs756502783
|
|
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile)
|
rs536644825
|
|
NM_024675.4(PALB2):c.2507_2509del (p.Val836del)
|
rs587782697
|
|
NM_024675.4(PALB2):c.2508C>T (p.Val836=)
|
rs786203603
|
|
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)
|
rs750650768
|
|
NM_024675.4(PALB2):c.2515-21_2515-19del
|
rs1064794514
|
|
NM_024675.4(PALB2):c.2535T>C (p.Pro845=)
|
rs1567216906
|
|
NM_024675.4(PALB2):c.2556A>G (p.Pro852=)
|
rs1256170688
|
|
NM_024675.4(PALB2):c.2559C>T (p.Gly853=)
|
rs180177115
|
|
NM_024675.4(PALB2):c.2562C>T (p.Asn854=)
|
rs1966853809
|
|
NM_024675.4(PALB2):c.2563C>T (p.Leu855=)
|
rs1555460212
|
|
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)
|
rs770996884
|
|
NM_024675.4(PALB2):c.2568A>G (p.Gln856=)
|
rs587781708
|
|
NM_024675.4(PALB2):c.2575del (p.Ser859fs)
|
rs2142367858
|
|
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter)
|
rs1057517539
|
|
NM_024675.4(PALB2):c.2580G>A (p.Glu860=)
|
rs1348398121
|
|
NM_024675.4(PALB2):c.2587-15T>C
|
rs2142356956
|
|
NM_024675.4(PALB2):c.2587-1G>C
|
rs761214886
|
|
NM_024675.4(PALB2):c.2587-2A>C
|
rs1060502787
|
|
NM_024675.4(PALB2):c.2592T>C (p.Pro864=)
|
rs1597085410
|
|
NM_024675.4(PALB2):c.2595A>G (p.Ser865=)
|
rs1597085400
|
|
NM_024675.4(PALB2):c.2607C>A (p.Ser869=)
|
rs45542234
|
|
NM_024675.4(PALB2):c.2607C>T (p.Ser869=)
|
rs45542234
|
|
NM_024675.4(PALB2):c.2616G>T (p.Val872=)
|
rs1567215519
|
|
NM_024675.4(PALB2):c.261T>C (p.His87=)
|
rs2142447442
|
|
NM_024675.4(PALB2):c.261dup (p.Leu88fs)
|
rs2506518601
|
|
NM_024675.4(PALB2):c.2628T>C (p.Phe876=)
|
rs876659584
|
|
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs)
|
rs876660643
|
|
NM_024675.4(PALB2):c.2640C>G (p.Ala880=)
|
rs752928633
|
|
NM_024675.4(PALB2):c.2649A>G (p.Lys883=)
|
rs786202932
|
|
NM_024675.4(PALB2):c.2652G>A (p.Glu884=)
|
rs1057522856
|
|
NM_024675.4(PALB2):c.2661C>T (p.Ile887=)
|
rs180177120
|
|
NM_024675.4(PALB2):c.2667T>A (p.Thr889=)
|
rs876659224
|
|
NM_024675.4(PALB2):c.2679T>C (p.Asp893=)
|
rs1597085114
|
|
NM_024675.4(PALB2):c.2682A>G (p.Val894=)
|
rs1555459959
|
|
NM_024675.4(PALB2):c.2703G>A (p.Leu901=)
|
rs1278315369
|
|
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter)
|
rs587781457
|
|
NM_024675.4(PALB2):c.2715G>A (p.Gln905=)
|
rs1555459937
|
|
NM_024675.4(PALB2):c.2727T>G (p.Leu909=)
|
rs1597084949
|
|
NM_024675.4(PALB2):c.2730T>C (p.Tyr910=)
|
rs995629797
|
|
NM_024675.4(PALB2):c.2733C>A (p.Thr911=)
|
rs1555459927
|
|
NM_024675.4(PALB2):c.2733C>T (p.Thr911=)
|
rs1555459927
|
|
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter)
|
rs1555459925
|
|
NM_024675.4(PALB2):c.2747_2748+4del
|
rs786203892
|
|
NM_024675.4(PALB2):c.2748+1G>A
|
rs753153576
|
|
NM_024675.4(PALB2):c.2748+1G>C
|
rs753153576
|
|
NM_024675.4(PALB2):c.2748+1G>T
|
rs753153576
|
|
NM_024675.4(PALB2):c.2749-16_2749-14del
|
rs765742648
|
|
NM_024675.4(PALB2):c.2754A>G (p.Pro918=)
|
rs2142344640
|
|
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter)
|
rs1567214493
|
|
NM_024675.4(PALB2):c.2768T>G (p.Val923Gly)
|
rs1597082876
|
|
NM_024675.4(PALB2):c.276T>C (p.Thr92=)
|
rs1555461850
|
|
NM_024675.4(PALB2):c.276T>G (p.Thr92=)
|
rs1555461850
|
|
NM_024675.4(PALB2):c.2781T>C (p.Asp927=)
|
rs1373766717
|
|
NM_024675.4(PALB2):c.2787T>C (p.Tyr929=)
|
rs876660669
|
|
NM_024675.4(PALB2):c.2793C>A (p.Leu931=)
|
|
|
NM_024675.4(PALB2):c.2793C>T (p.Leu931=)
|
rs1039677524
|
|
NM_024675.4(PALB2):c.279A>T (p.Gly93=)
|
rs1286951503
|
|
NM_024675.4(PALB2):c.27C>G (p.Leu9=)
|
rs749298208
|
|
NM_024675.4(PALB2):c.2802A>G (p.Val934=)
|
rs1555459718
|
|
NM_024675.4(PALB2):c.2806T>C (p.Leu936=)
|
rs2142343280
|
|
NM_024675.4(PALB2):c.2811A>C (p.Gly937=)
|
rs876660486
|
|
NM_024675.4(PALB2):c.2811A>G (p.Gly937=)
|
rs876660486
|
|
NM_024675.4(PALB2):c.2815T>C (p.Leu939=)
|
rs876658742
|
|
NM_024675.4(PALB2):c.2817G>A (p.Leu939=)
|
rs1555459710
|
|
NM_024675.4(PALB2):c.2829G>A (p.Glu943=)
|
rs1555459706
|
|
NM_024675.4(PALB2):c.2834+1G>A
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+1G>T
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+2T>C
|
rs864622481
|
|
NM_024675.4(PALB2):c.2835-1G>C
|
rs515726099
|
|
NM_024675.4(PALB2):c.2847T>C (p.Cys949=)
|
rs1555459591
|
|
NM_024675.4(PALB2):c.2850C>T (p.Ser950=)
|
rs876660352
|
|
NM_024675.4(PALB2):c.2852C>T (p.Ser951Phe)
|
rs587782889
|
|
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter)
|
rs1219715328
|
|
NM_024675.4(PALB2):c.2874A>G (p.Gln958=)
|
rs1555459577
|
|
NM_024675.4(PALB2):c.2877A>G (p.Val959=)
|
rs1060504710
|
|
NM_024675.4(PALB2):c.2877A>T (p.Val959=)
|
rs1060504710
|
|
NM_024675.4(PALB2):c.288A>C (p.Thr96=)
|
rs878855114
|
|
NM_024675.4(PALB2):c.2892A>C (p.Gly964=)
|
rs762772267
|
|
NM_024675.4(PALB2):c.2892A>G (p.Gly964=)
|
rs762772267
|
|
NM_024675.4(PALB2):c.2895T>C (p.Asn965=)
|
rs1555459569
|
|
NM_024675.4(PALB2):c.2901A>G (p.Lys967=)
|
rs1057523633
|
|
NM_024675.4(PALB2):c.2904T>C (p.Ala968=)
|
rs876658818
|
|
NM_024675.4(PALB2):c.290C>T (p.Ser97Phe)
|
rs776902295
|
|
NM_024675.4(PALB2):c.2910T>G (p.Leu970=)
|
rs1555459558
|
|
NM_024675.4(PALB2):c.2913C>A (p.Gly971=)
|
rs786201384
|
|
NM_024675.4(PALB2):c.2913C>T (p.Gly971=)
|
rs786201384
|
|
NM_024675.4(PALB2):c.2919A>G (p.Thr973=)
|
rs876659945
|
|
NM_024675.4(PALB2):c.291T>G (p.Ser97=)
|
rs2142446803
|
|
NM_024675.4(PALB2):c.2926A>C (p.Arg976=)
|
rs2142335890
|
|
NM_024675.4(PALB2):c.2928G>A (p.Arg976=)
|
rs878855115
|
|
NM_024675.4(PALB2):c.2931A>G (p.Leu977=)
|
rs2142335769
|
|
NM_024675.4(PALB2):c.2938del (p.Ser980fs)
|
rs1555459540
|
|
NM_024675.4(PALB2):c.2940C>T (p.Ser980=)
|
rs766049739
|
|
NM_024675.4(PALB2):c.2946G>T (p.Gly982=)
|
rs1060502731
|
|
NM_024675.4(PALB2):c.2949C>T (p.Thr983=)
|
rs1250153779
|
|
NM_024675.4(PALB2):c.2959_2966dup (p.Glu990fs)
|
rs875989792
|
|
NM_024675.4(PALB2):c.2961A>G (p.Gln987=)
|
rs1555459530
|
|
NM_024675.4(PALB2):c.2962_2963del (p.Gln988fs)
|
rs1555459528
|
|
NM_024675.4(PALB2):c.2973C>T (p.Val991=)
|
rs2142334725
|
|
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs)
|
rs1555459520
|
|
NM_024675.4(PALB2):c.297A>G (p.Thr99=)
|
rs1057523513
|
|
NM_024675.4(PALB2):c.2982dup (p.Ala995fs)
|
rs180177127
|
|
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)
|
rs786203775
|
|
NM_024675.4(PALB2):c.2994A>C (p.Gly998=)
|
rs2142334227
|
|
NM_024675.4(PALB2):c.2996+9del
|
rs769414858
|
|
NM_024675.4(PALB2):c.2997-1G>A
|
rs754465466
|
|
NM_024675.4(PALB2):c.2T>C (p.Met1Thr)
|
rs756519825
|
|
NM_024675.4(PALB2):c.2T>G (p.Met1Arg)
|
rs756519825
|
|
NM_024675.4(PALB2):c.3004_3008del (p.Glu1002fs)
|
rs2506320815
|
|
NM_024675.4(PALB2):c.3009C>T (p.Asn1003=)
|
rs1555459417
|
|
NM_024675.4(PALB2):c.300T>C (p.Leu100=)
|
rs1169777505
|
|
NM_024675.4(PALB2):c.3015T>C (p.Phe1005=)
|
rs2506320531
|
|
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)
|
rs886039683
|
|
NM_024675.4(PALB2):c.3024C>G (p.Pro1008=)
|
rs180177130
|
|
NM_024675.4(PALB2):c.3027T>C (p.Pro1009=)
|
rs876659376
|
|
NM_024675.4(PALB2):c.3036T>G (p.Thr1012=)
|
rs1597079832
|
|
NM_024675.4(PALB2):c.3051T>G (p.Ala1017=)
|
rs774535249
|
|
NM_024675.4(PALB2):c.3053A>C (p.Glu1018Ala)
|
rs1567212910
|
|
NM_024675.4(PALB2):c.3054G>A (p.Glu1018=)
|
rs183489969
|
|
NM_024675.4(PALB2):c.3054G>T (p.Glu1018Asp)
|
rs183489969
|
|
NM_024675.4(PALB2):c.3060A>G (p.Gln1020=)
|
rs1555459389
|
|
NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs)
|
rs1597079711
|
|
NM_024675.4(PALB2):c.3069A>G (p.Gln1023=)
|
rs786201363
|
|
NM_024675.4(PALB2):c.3074dup (p.Leu1026fs)
|
rs2506318271
|
|
NM_024675.4(PALB2):c.3075T>G (p.Ala1025=)
|
|
|
NM_024675.4(PALB2):c.3076C>T (p.Leu1026=)
|
rs1555459377
|
|
NM_024675.4(PALB2):c.3084T>C (p.Gly1028=)
|
rs2142326500
|
|
NM_024675.4(PALB2):c.3087T>C (p.Thr1029=)
|
rs2142326440
|
|
NM_024675.4(PALB2):c.3108T>A (p.Val1036=)
|
rs2142326024
|
|
NM_024675.4(PALB2):c.3111T>C (p.Ile1037=)
|
rs876660903
|
|
NM_024675.4(PALB2):c.3114-1G>A
|
rs886039619
|
|
NM_024675.4(PALB2):c.3114-20A>G
|
rs770731003
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_024675.4(PALB2):c.3124dup (p.Thr1042fs)
|
rs1555458828
|
|
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter)
|
rs766394024
|
|
NM_024675.4(PALB2):c.3132A>G (p.Gln1044=)
|
rs587780216
|
|
NM_024675.4(PALB2):c.3138G>A (p.Leu1046=)
|
rs1555458824
|
|
NM_024675.4(PALB2):c.3141A>G (p.Lys1047=)
|
rs2142299817
|
|
NM_024675.4(PALB2):c.3153T>C (p.Ile1051=)
|
rs1168676309
|
|
NM_024675.4(PALB2):c.3156T>C (p.Asp1052=)
|
rs2142299487
|
|
NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter)
|
rs2142298948
|
|
NM_024675.4(PALB2):c.3189C>G (p.Ala1063=)
|
rs2142298779
|
|
NM_024675.4(PALB2):c.318C>T (p.Ser106=)
|
rs2142446163
|
|
NM_024675.4(PALB2):c.3201+1G>A
|
rs587776423
|
|
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.3202-2A>C
|
rs1060499827
|
|
NM_024675.4(PALB2):c.3202-2A>G
|
rs1060499827
|
|
NM_024675.4(PALB2):c.3202-8G>A
|
rs367979106
|
|
NM_024675.4(PALB2):c.3202-8G>T
|
rs367979106
|
|
NM_024675.4(PALB2):c.3204G>T (p.Gly1068=)
|
rs786203475
|
|
NM_024675.4(PALB2):c.3207T>C (p.Leu1069=)
|
rs2506219382
|
|
NM_024675.4(PALB2):c.3210C>G (p.Leu1070=)
|
rs876659540
|
|
NM_024675.4(PALB2):c.3210C>T (p.Leu1070=)
|
rs876659540
|
|
NM_024675.4(PALB2):c.3213T>C (p.Phe1071=)
|
rs774412039
|
|
NM_024675.4(PALB2):c.321T>C (p.Phe107=)
|
rs781049663
|
|
NM_024675.4(PALB2):c.3220C>T (p.Leu1074=)
|
rs1057523330
|
|
NM_024675.4(PALB2):c.3231C>A (p.Pro1077=)
|
rs772714719
|
|
NM_024675.4(PALB2):c.3252G>C (p.Ser1084=)
|
rs141570833
|
|
NM_024675.4(PALB2):c.3255G>A (p.Leu1085=)
|
rs45486891
|
|
NM_024675.4(PALB2):c.3256del (p.Arg1086fs)
|
rs1057517600
|
|
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter)
|
rs864622138
|
|
NM_024675.4(PALB2):c.3273G>A (p.Gln1091=)
|
rs1555458200
|
|
NM_024675.4(PALB2):c.3276C>A (p.Leu1092=)
|
|
|
NM_024675.4(PALB2):c.3294G>A (p.Lys1098=)
|
rs875989796
|
|
NM_024675.4(PALB2):c.3297G>C (p.Thr1099=)
|
rs45565738
|
|
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs)
|
rs1567206823
|
|
NM_024675.4(PALB2):c.3300T>C (p.Thr1100=)
|
rs45516100
|
|
NM_024675.4(PALB2):c.3303C>T (p.Leu1101=)
|
rs2506215064
|
|
NM_024675.4(PALB2):c.3306C>T (p.Ser1102=)
|
rs515726112
|
|
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)
|
rs201657283
|
|
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu)
|
rs201657283
|
|
NM_024675.4(PALB2):c.3315G>A (p.Val1105=)
|
rs2142271728
|
|
NM_024675.4(PALB2):c.3321G>A (p.Leu1107=)
|
rs515726113
|
|
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter)
|
rs1218512317
|
|
NM_024675.4(PALB2):c.3327T>C (p.Cys1109=)
|
rs2142271504
|
|
NM_024675.4(PALB2):c.3333T>A (p.Pro1111=)
|
rs1597066587
|
|
NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter)
|
rs1567206756
|
|
NM_024675.4(PALB2):c.3350+1G>A
|
rs864622192
|
|
NM_024675.4(PALB2):c.3350+4A>G
|
rs180177136
|
|
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)
|
rs876659859
|
|
NM_024675.4(PALB2):c.3351-2A>G
|
rs1060502764
|
|
NM_024675.4(PALB2):c.3351-7C>T
|
rs2142255767
|
|
NM_024675.4(PALB2):c.3355C>T (p.Leu1119=)
|
rs748338957
|
|
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)
|
rs515726117
|
|
NM_024675.4(PALB2):c.3369G>A (p.Val1123=)
|
rs753357848
|
|
NM_024675.4(PALB2):c.3378C>T (p.His1126=)
|
rs2506197725
|
|
NM_024675.4(PALB2):c.3414C>T (p.Ala1138=)
|
rs2142254371
|
|
NM_024675.4(PALB2):c.3425del (p.Leu1142fs)
|
rs1057517563
|
|
NM_024675.4(PALB2):c.3432C>A (p.Leu1144=)
|
rs748363227
|
|
NM_024675.4(PALB2):c.3432C>G (p.Leu1144=)
|
rs748363227
|
|
NM_024675.4(PALB2):c.3438G>A (p.Gln1146=)
|
rs771827859
|
|
NM_024675.4(PALB2):c.3444T>C (p.Thr1148=)
|
rs778512231
|
|
NM_024675.4(PALB2):c.3447C>T (p.Ala1149=)
|
rs1555457863
|
|
NM_024675.4(PALB2):c.3450C>T (p.Leu1150=)
|
rs2142253555
|
|
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter)
|
rs1597062038
|
|
NM_024675.4(PALB2):c.3474T>C (p.His1158=)
|
rs730881896
|
|
NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter)
|
rs1597061983
|
|
NM_024675.4(PALB2):c.3486G>A (p.Val1162=)
|
rs1597061958
|
|
NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter)
|
rs879254113
|
|
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)
|
rs587782217
|
|
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter)
|
rs773829275
|
|
NM_024675.4(PALB2):c.3495G>C (p.Ser1165=)
|
rs45439097
|
|
NM_024675.4(PALB2):c.3498T>A (p.Gly1166=)
|
rs2142252267
|
|
NM_024675.4(PALB2):c.3500C>T (p.Thr1167Ile)
|
rs1308784980
|
|
NM_024675.4(PALB2):c.3501A>G (p.Thr1167=)
|
rs2506195792
|
|
NM_024675.4(PALB2):c.3504C>G (p.Asp1168Glu)
|
rs1966396729
|
|
NM_024675.4(PALB2):c.3504C>T (p.Asp1168=)
|
rs1966396729
|
|
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)
|
rs587776428
|
|
NM_024675.4(PALB2):c.3543del (p.Phe1181fs)
|
rs1567204928
|
|
NM_024675.4(PALB2):c.3546A>G (p.Val1182=)
|
rs1060504704
|
|
NM_024675.4(PALB2):c.363A>G (p.Thr121=)
|
rs1555461816
|
|
NM_024675.4(PALB2):c.373C>T (p.Gln125Ter)
|
rs2142444897
|
|
NM_024675.4(PALB2):c.375A>G (p.Gln125=)
|
rs531307676
|
|
NM_024675.4(PALB2):c.378A>G (p.Glu126=)
|
rs2142444796
|
|
NM_024675.4(PALB2):c.387C>T (p.Pro129=)
|
rs1253286227
|
|
NM_024675.4(PALB2):c.39G>A (p.Glu13=)
|
rs876660538
|
|
NM_024675.4(PALB2):c.3G>A (p.Met1Ile)
|
rs1057517585
|
|
NM_024675.4(PALB2):c.408T>C (p.Ser136=)
|
rs112202375
|
|
NM_024675.4(PALB2):c.423G>A (p.Gln141=)
|
rs786202680
|
|
NM_024675.4(PALB2):c.426G>A (p.Lys142=)
|
rs1967047677
|
|
NM_024675.4(PALB2):c.429G>T (p.Leu143=)
|
rs1057523525
|
|
NM_024675.4(PALB2):c.42G>A (p.Lys14=)
|
rs1555462505
|
|
NM_024675.4(PALB2):c.432A>G (p.Pro144=)
|
rs1555461797
|
|
NM_024675.4(PALB2):c.435C>T (p.Ser145=)
|
rs2142443491
|
|
NM_024675.4(PALB2):c.444G>A (p.Lys148=)
|
rs1060502782
|
|
NM_024675.4(PALB2):c.444del (p.Lys149fs)
|
rs1555461796
|
|
NM_024675.4(PALB2):c.457A>C (p.Arg153=)
|
rs1375458252
|
|
NM_024675.4(PALB2):c.45A>G (p.Glu15=)
|
rs1060504718
|
|
NM_024675.4(PALB2):c.474G>A (p.Gln158=)
|
rs878855119
|
|
NM_024675.4(PALB2):c.475G>T (p.Glu159Ter)
|
rs1555461788
|
|
NM_024675.4(PALB2):c.477G>A (p.Glu159=)
|
rs1163253431
|
|
NM_024675.4(PALB2):c.48+4C>A
|
rs876659843
|
|
NM_024675.4(PALB2):c.48+8G>C
|
rs2142480527
|
|
NM_024675.4(PALB2):c.480A>G (p.Arg160=)
|
rs1555461782
|
|
NM_024675.4(PALB2):c.483C>T (p.Asp161=)
|
rs371627753
|
|
NM_024675.4(PALB2):c.48G>A (p.Lys16=)
|
rs587776405
|
|
NM_024675.4(PALB2):c.49-2A>G
|
rs786203245
|
|
NM_024675.4(PALB2):c.49-2A>T
|
rs786203245
|
|
NM_024675.4(PALB2):c.498T>A (p.Thr166=)
|
rs1597099121
|
|
NM_024675.4(PALB2):c.500_513del (p.Asp167fs)
|
rs876660719
|
|
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter)
|
rs515726122
|
|
NM_024675.4(PALB2):c.508A>C (p.Arg170=)
|
rs864622622
|
|
NM_024675.4(PALB2):c.508A>G (p.Arg170Gly)
|
rs864622622
|
|
NM_024675.4(PALB2):c.513G>A (p.Leu171=)
|
rs1251724216
|
|
NM_024675.4(PALB2):c.516T>C (p.Ser172=)
|
|
|
NM_024675.4(PALB2):c.51A>G (p.Leu17=)
|
rs2142461231
|
|
NM_024675.4(PALB2):c.522A>G (p.Lys174=)
|
rs1555461754
|
|
NM_024675.4(PALB2):c.525A>G (p.Arg175=)
|
rs1555461747
|
|
NM_024675.4(PALB2):c.532G>T (p.Glu178Ter)
|
rs1597098960
|
|
NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT (p.Glu180Ter)
|
rs1597098943
|
|
NM_024675.4(PALB2):c.557A>T (p.Asn186Ile)
|
rs587782164
|
|
NM_024675.4(PALB2):c.58A>T (p.Lys20Ter)
|
rs2142461082
|
|
NM_024675.4(PALB2):c.591T>A (p.Thr197=)
|
rs773073532
|
|
NM_024675.4(PALB2):c.594C>T (p.His198=)
|
rs1555461716
|
|
NM_024675.4(PALB2):c.600A>G (p.Leu200=)
|
rs1555461714
|
|
NM_024675.4(PALB2):c.601dup (p.Ser201fs)
|
rs886041220
|
|
NM_024675.4(PALB2):c.60A>G (p.Lys20=)
|
rs1196162944
|
|
NM_024675.4(PALB2):c.618T>A (p.Leu206=)
|
rs180177088
|
|
NM_024675.4(PALB2):c.620del (p.Pro207fs)
|
rs1555461704
|
|
NM_024675.4(PALB2):c.625del (p.Ser209fs)
|
rs1597098739
|
|
NM_024675.4(PALB2):c.630A>G (p.Pro210=)
|
rs1234068504
|
|
NM_024675.4(PALB2):c.651T>C (p.Asn217=)
|
rs1555461692
|
|
NM_024675.4(PALB2):c.663A>G (p.Val221=)
|
rs876659721
|
|
NM_024675.4(PALB2):c.675A>G (p.Pro225=)
|
rs1555461681
|
|
NM_024675.4(PALB2):c.684A>G (p.Gln228=)
|
rs1967029347
|
|
NM_024675.4(PALB2):c.693dup (p.Gly232fs)
|
rs875989791
|
|
NM_024675.4(PALB2):c.6C>T (p.Asp2=)
|
rs1302088447
|
|
NM_024675.4(PALB2):c.703dup (p.Thr235fs)
|
rs1967027806
|
|
NM_024675.4(PALB2):c.705A>G (p.Thr235=)
|
rs2142436806
|
|
NM_024675.4(PALB2):c.72del (p.Arg26fs)
|
rs180177142
|
|
NM_024675.4(PALB2):c.735G>T (p.Ala245=)
|
rs371612049
|
|
NM_024675.4(PALB2):c.748T>C (p.Leu250=)
|
rs1597098419
|
|
NM_024675.4(PALB2):c.753G>A (p.Gln251=)
|
rs863224791
|
|
NM_024675.4(PALB2):c.759A>G (p.Leu253=)
|
rs367842489
|
|
NM_024675.4(PALB2):c.759del (p.Ser254fs)
|
rs1060499830
|
|
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)
|
rs864622695
|
|
NM_024675.4(PALB2):c.76del (p.Arg26fs)
|
rs1597101885
|
|
NM_024675.4(PALB2):c.773G>A (p.Ser258Asn)
|
rs371289600
|
|
NM_024675.4(PALB2):c.774T>C (p.Ser258=)
|
rs1597098315
|
|
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter)
|
rs1555461627
|
|
NM_024675.4(PALB2):c.792C>T (p.His264=)
|
rs1310569612
|
|
NM_024675.4(PALB2):c.804A>G (p.Lys268=)
|
rs1967019844
|
|
NM_024675.4(PALB2):c.81A>G (p.Glu27=)
|
rs2142460493
|
|
NM_024675.4(PALB2):c.832C>T (p.Leu278=)
|
rs515726128
|
|
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His)
|
rs587778582
|
|
NM_024675.4(PALB2):c.834A>G (p.Leu278=)
|
rs199919863
|
|
NM_024675.4(PALB2):c.843T>C (p.Ile281=)
|
rs786201408
|
|
NM_024675.4(PALB2):c.855A>C (p.Ser285=)
|
rs2142432748
|
|
NM_024675.4(PALB2):c.860dup (p.Ser288fs)
|
rs864622301
|
|
NM_024675.4(PALB2):c.866T>A (p.Leu289Ter)
|
rs1555461574
|
|
NM_024675.4(PALB2):c.879C>G (p.Gly293=)
|
rs1461078801
|
|
NM_024675.4(PALB2):c.87C>T (p.Ser29=)
|
rs2142460349
|
|
NM_024675.4(PALB2):c.882A>G (p.Lys294=)
|
rs1415955458
|
|
NM_024675.4(PALB2):c.885_886insG (p.Met296fs)
|
rs1597097936
|
|
NM_024675.4(PALB2):c.903T>C (p.Asp301=)
|
rs1057521432
|
|
NM_024675.4(PALB2):c.906CCT[1] (p.Leu304del)
|
rs587780222
|
|
NM_024675.4(PALB2):c.908T>C (p.Leu303Pro)
|
rs774057025
|
|
NM_024675.4(PALB2):c.924T>C (p.Ala308=)
|
rs2142430881
|
|
NM_024675.4(PALB2):c.927A>C (p.Ile309=)
|
rs1326253995
|
|
NM_024675.4(PALB2):c.930T>C (p.Ser310=)
|
rs1967008319
|
|
NM_024675.4(PALB2):c.931A>T (p.Lys311Ter)
|
rs1060499831
|
|
NM_024675.4(PALB2):c.936T>C (p.Ser312=)
|
rs1555461534
|
|
NM_024675.4(PALB2):c.93A>G (p.Thr31=)
|
rs1597101837
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
NM_024675.4(PALB2):c.943C>T (p.Leu315=)
|
rs1567221961
|
|
NM_024675.4(PALB2):c.951A>T (p.Thr317=)
|
rs1967006687
|
|
NM_024675.4(PALB2):c.953_954del (p.Ser318fs)
|
rs1060502800
|
|
NM_024675.4(PALB2):c.957T>C (p.Ser319=)
|
rs786203082
|
|
NM_024675.4(PALB2):c.961T>C (p.Leu321=)
|
rs1967005997
|
|
NM_024675.4(PALB2):c.978A>G (p.Ser326=)
|
|
|
NM_024675.4(PALB2):c.985C>T (p.Leu329=)
|
rs863224792
|
|
NM_024675.4(PALB2):c.987A>G (p.Leu329=)
|
rs1258396517
|
|
NM_024675.4(PALB2):c.999C>T (p.Thr333=)
|
rs180177096
|
|
NM_024675.4(PALB2):c.9G>A (p.Glu3=)
|
rs786202325
|
|
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)
|
rs373104267
|
|
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs)
|
rs1567831649
|
|
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
|
rs2545139564
|
|
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
|
rs2545472874
|
|
NM_032043.3(BRIP1):c.1341-3C>G
|
rs864622597
|
|
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter)
|
rs1555605955
|
|
NM_032043.3(BRIP1):c.141del (p.Thr48fs)
|
rs587782065
|
|
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter)
|
rs1060501739
|
|
NM_032043.3(BRIP1):c.1543del (p.Glu515fs)
|
rs1064793812
|
|
NM_032043.3(BRIP1):c.1602T>C (p.Leu534=)
|
rs974139602
|
|
NM_032043.3(BRIP1):c.1770del (p.Trp592fs)
|
rs2145091141
|
|
NM_032043.3(BRIP1):c.1794+1G>A
|
rs766516963
|
|
NM_032043.3(BRIP1):c.180_190del (p.Leu61fs)
|
rs2545471484
|
|
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)
|
rs587781985
|
|
NM_032043.3(BRIP1):c.1889del (p.Thr630fs)
|
rs1064793626
|
|
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.1970del (p.Gly657fs)
|
rs760782298
|
|
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs)
|
rs1603328466
|
|
NM_032043.3(BRIP1):c.2103del (p.Glu702fs)
|
rs2144701568
|
|
NM_032043.3(BRIP1):c.210del (p.Lys70fs)
|
rs1555617925
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
NM_032043.3(BRIP1):c.2124G>A (p.Trp708Ter)
|
rs2077034033
|
|
NM_032043.3(BRIP1):c.2143_2163delinsTTCT (p.His715fs)
|
rs2544837995
|
|
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)
|
rs1257401983
|
|
NM_032043.3(BRIP1):c.2262A>T (p.Gly754=)
|
rs1060504324
|
|
NM_032043.3(BRIP1):c.2307G>A (p.Leu769=)
|
rs1555590464
|
|
NM_032043.3(BRIP1):c.2400C>A (p.Tyr800Ter)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter)
|
rs2061855838
|
|
NM_032043.3(BRIP1):c.243del (p.Val82fs)
|
rs1064794890
|
|
NM_032043.3(BRIP1):c.2467del (p.Arg823fs)
|
rs2544696416
|
|
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs)
|
rs1567732136
|
|
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)
|
rs1060501766
|
|
NM_032043.3(BRIP1):c.2772A>G (p.Glu924=)
|
rs730881625
|
|
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs)
|
rs1295703239
|
|
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
|
rs2144111205
|
|
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)
|
rs140233356
|
|
NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter)
|
rs863224802
|
|
NM_032043.3(BRIP1):c.2835A>G (p.Glu945=)
|
rs786203633
|
|
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
|
rs2061351777
|
|
NM_032043.3(BRIP1):c.292_293del (p.Asn97_Asn98insTer)
|
rs2145828926
|
|
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs)
|
rs774684620
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)
|
rs763443434
|
|
NM_032043.3(BRIP1):c.3069C>G (p.Leu1023=)
|
rs61754142
|
|
NM_032043.3(BRIP1):c.3081G>A (p.Glu1027=)
|
rs777660106
|
|
NM_032043.3(BRIP1):c.33T>C (p.Gly11=)
|
rs759187663
|
|
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)
|
rs542698396
|
|
NM_032043.3(BRIP1):c.408A>C (p.Ala136=)
|
rs876660891
|
|
NM_032043.3(BRIP1):c.438_440delinsCT (p.Tyr147fs)
|
rs786203429
|
|
NM_032043.3(BRIP1):c.441_445delinsA (p.Tyr147_Asp149delinsTer)
|
rs2545420396
|
|
NM_032043.3(BRIP1):c.462dup (p.Gln155fs)
|
rs1567868477
|
|
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)
|
rs876660613
|
|
NM_032043.3(BRIP1):c.507+1G>T
|
rs2145761239
|
|
NM_032043.3(BRIP1):c.616del (p.Ser206fs)
|
rs1603361558
|
|
NM_032043.3(BRIP1):c.627dup (p.Pro210fs)
|
rs1392582030
|
|
NM_032043.3(BRIP1):c.646del (p.Arg216fs)
|
rs1603347042
|
|
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)
|
rs1555618716
|
|
NM_032043.3(BRIP1):c.690G>A (p.Ser230=)
|
rs751460179
|
|
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter)
|
rs1603346857
|
|
NM_032043.3(BRIP1):c.93+1G>A
|
rs587782047
|
|
NM_032043.3(BRIP1):c.93+1G>T
|
rs587782047
|
|
NM_032043.3(BRIP1):c.93+4_93+7del
|
rs1224034842
|
|
PALB2:c.2515-1G>T
|
rs587776417
|
|
Single allele
|
|
|