|
NM_024675.4(PALB2):c.3114-51=
|
rs249936
|
0.99999
|
|
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)
|
rs1169305
|
0.98610
|
|
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=)
|
rs206075
|
0.97986
|
|
NM_000059.4(BRCA2):c.7397T>C (p.Val2466Ala)
|
rs169547
|
0.97902
|
|
NM_004996.4(ABCC1):c.2292+288G>A
|
rs11075295
|
0.83985
|
|
NM_004360.5(CDH1):c.48+181G>C
|
rs3743675
|
0.80468
|
|
NM_004360.5(CDH1):c.48+6C>T
|
rs3743674
|
0.80384
|
|
NM_000465.4(BARD1):c.1518T>C (p.His506=)
|
rs2070093
|
0.74904
|
|
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=)
|
rs4986765
|
0.74166
|
|
NM_000465.4(BARD1):c.-48T>C
|
rs17489363
|
0.73905
|
|
NM_000465.4(BARD1):c.-30G>C
|
rs1129804
|
0.73899
|
|
NM_004936.4(CDKN2B):c.*2619C>T
|
rs1063192
|
0.70584
|
|
NM_004360.5(CDH1):c.2076T>C (p.Ala692=)
|
rs1801552
|
0.70379
|
|
NM_000465.4(BARD1):c.-78G>A
|
rs34732883
|
0.63732
|
|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
|
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro)
|
rs4986764
|
0.61453
|
|
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=)
|
rs4986763
|
0.60694
|
|
NM_004996.4(ABCC1):c.1913-617C>T
|
rs35625
|
0.60093
|
|
NM_003981.4(PRC1):c.1792-828T>C
|
rs12910825
|
0.56832
|
|
NM_000059.4(BRCA2):c.7806-14T>C
|
rs9534262
|
0.53977
|
|
NM_000465.4(BARD1):c.1134G>C (p.Arg378Ser)
|
rs2229571
|
0.53291
|
|
NM_003981.4(PRC1):c.1350+35C>G
|
rs12898311
|
0.52787
|
|
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala)
|
rs7190823
|
0.52564
|
|
NM_003981.4(PRC1):c.*769A>G
|
rs7601
|
0.46627
|
|
NM_004996.4(ABCC1):c.1988+357G>T
|
rs35626
|
0.40581
|
|
NM_003981.4(PRC1):c.970+436G>A
|
rs6496742
|
0.39225
|
|
NM_003981.4(PRC1):c.12-2765T>C
|
rs8028856
|
0.38070
|
|
NM_003981.4(PRC1):c.282G>A (p.Thr94=)
|
rs2301826
|
0.37356
|
|
NM_000465.4(BARD1):c.1315-19G>A
|
rs6704780
|
0.37148
|
|
NM_000465.4(BARD1):c.1568+14C>T
|
rs5031011
|
0.34966
|
|
NM_007294.4(BRCA1):c.671-248_671-246dup
|
rs5820483
|
0.33157
|
|
NM_000465.4(BARD1):c.70C>T (p.Pro24Ser)
|
rs1048108
|
0.32854
|
|
NM_003981.4(PRC1):c.145-81A>T
|
rs8031684
|
0.32249
|
|
NM_024675.4(PALB2):c.2586+58C>T
|
rs249954
|
0.31139
|
|
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=)
|
rs1799949
|
0.30810
|
|
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)
|
rs16942
|
0.30784
|
|
NM_007294.4(BRCA1):c.5152+66G>A
|
rs3092994
|
0.30314
|
|
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=)
|
rs1060915
|
0.29170
|
|
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
|
rs16941
|
0.29115
|
|
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=)
|
rs16940
|
0.29035
|
|
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=)
|
rs1801406
|
0.28273
|
|
NM_144991.3(TSPEAR):c.303+9076A>G
|
rs452472
|
0.27108
|
|
NM_004996.4(ABCC1):c.2461-1217G>A
|
rs3888565
|
0.25007
|
|
NM_007294.4(BRCA1):c.5074+65G>A
|
rs8176235
|
0.23738
|
|
NM_007294.4(BRCA1):c.5074+284C>A
|
rs11654396
|
0.23139
|
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
|
NM_000249.4(MLH1):c.655A>G (p.Ile219Val)
|
rs1799977
|
0.23048
|
|
NM_000059.4(BRCA2):c.-26G>A
|
rs1799943
|
0.20795
|
|
NM_000465.4(BARD1):c.1053G>C (p.Thr351=)
|
rs2070096
|
0.19573
|
|
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)
|
rs1042821
|
0.18742
|
|
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=)
|
rs543304
|
0.18381
|
|
NM_024675.4(PALB2):c.1684+1597T>C
|
rs16940342
|
0.18113
|
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
|
NM_005732.4(RAD50):c.551+19G>A
|
rs17166050
|
0.17902
|
|
NM_000125.4(ESR1):c.1782G>A (p.Thr594=)
|
rs2228480
|
0.17850
|
|
NM_003981.4(PRC1):c.268-107G>A
|
rs11857612
|
0.15952
|
|
NM_000368.5(TSC1):c.965T>C (p.Met322Thr)
|
rs1073123
|
0.15387
|
|
NM_032043.3(BRIP1):c.508-31C>G
|
rs4988344
|
0.15259
|
|
NM_004996.4(ABCC1):c.1913-718G>T
|
rs35623
|
0.14934
|
|
NM_024675.4(PALB2):c.2997-624G>C
|
rs447529
|
0.12992
|
|
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg)
|
rs152451
|
0.12980
|
|
NM_003981.4(PRC1):c.268-203A>G
|
rs11855081
|
0.12736
|
|
NM_004996.4(ABCC1):c.1988+848A>G
|
rs35628
|
0.12670
|
|
NM_004996.4(ABCC1):c.1988+890G>T
|
rs4148353
|
0.10946
|
|
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn)
|
rs1801516
|
0.10783
|
|
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)
|
rs1801725
|
0.10682
|
|
NM_003981.4(PRC1):c.1462-1016G>A
|
rs11852999
|
0.10280
|
|
NC_000022.11:g.28741882C>T
|
rs2236141
|
0.09783
|
|
NM_003981.4(PRC1):c.1351-3C>T
|
rs17636091
|
0.09389
|
|
NM_003981.4(PRC1):c.971-442C>T
|
rs10520699
|
0.08779
|
|
NM_002386.4(MC1R):c.178G>T (p.Val60Leu)
|
rs1805005
|
0.08197
|
|
NM_003981.4(PRC1):c.*627T>C
|
rs14280
|
0.08057
|
|
NM_004996.4(ABCC1):c.1988+219G>T
|
rs4148350
|
0.07631
|
|
NM_024675.4(PALB2):c.3113+1376C>G
|
rs369444
|
0.07316
|
|
NM_000051.4(ATM):c.378T>A (p.Asp126Glu)
|
rs2234997
|
0.06244
|
|
NM_000051.4(ATM):c.4777-20A>G
|
rs3218678
|
0.06221
|
|
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn)
|
rs4986850
|
0.05782
|
|
NM_003981.4(PRC1):c.*441C>A
|
rs3743450
|
0.05570
|
|
NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=)
|
rs1804670
|
0.05209
|
|
NM_024675.4(PALB2):c.-47G>A
|
rs8053188
|
0.04991
|
|
NM_003981.4(PRC1):c.1532A>G (p.Tyr511Cys)
|
rs12911192
|
0.04874
|
|
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp)
|
rs1805008
|
0.04851
|
|
NM_003981.4(PRC1):c.*919G>T
|
rs15172
|
0.04817
|
|
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met)
|
rs3219484
|
0.04794
|
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
|
NM_007194.4(CHEK2):c.252A>G (p.Glu84=)
|
rs1805129
|
0.04009
|
|
NM_004360.5(CDH1):c.531+10G>C
|
rs33963999
|
0.03907
|
|
NM_004360.5(CDH1):c.2253C>T (p.Asn751=)
|
rs33964119
|
0.03869
|
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
|
NM_000059.4(BRCA2):c.2229T>C (p.His743=)
|
rs1801499
|
0.03698
|
|
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)
|
rs766173
|
0.03693
|
|
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=)
|
rs1801439
|
0.03688
|
|
NM_004360.5(CDH1):c.48+5C>G
|
rs77312180
|
0.03370
|
|
NM_000051.4(ATM):c.4578C>T (p.Pro1526=)
|
rs1800889
|
0.03196
|
|
NM_032043.3(BRIP1):c.94-18T>G
|
rs2138005
|
0.03086
|
|
NM_000051.4(ATM):c.3403-15T>A
|
rs79701258
|
0.02975
|
|
NM_000051.4(ATM):c.657T>C (p.Cys219=)
|
rs2235003
|
0.02841
|
|
NM_005732.4(RAD50):c.2025C>T (p.Asp675=)
|
rs34147298
|
0.02660
|
|
NM_000455.5(STK11):c.816C>T (p.Tyr272=)
|
rs9282859
|
0.02603
|
|
NM_005732.4(RAD50):c.214-44G>A
|
rs74769721
|
0.02590
|
|
NM_000051.4(ATM):c.1254A>G (p.Gln418=)
|
rs4987943
|
0.02542
|
|
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=)
|
rs45516100
|
0.02529
|
|
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)
|
rs74902811
|
0.02492
|
|
NM_000051.4(ATM):c.8786+8A>C
|
rs4986839
|
0.02488
|
|
NM_000465.4(BARD1):c.-83C>T
|
rs71579840
|
0.02454
|
|
NM_000136.3(FANCC):c.408A>G (p.Gln136=)
|
rs1800360
|
0.02397
|
|
NM_000535.7(PMS2):c.1488C>T (p.His496=)
|
rs1805320
|
0.02307
|
|
NM_000455.5(STK11):c.264C>A (p.Ile88=)
|
rs56354945
|
0.02303
|
|
NM_198253.3(TERT):c.835G>A (p.Ala279Thr)
|
rs61748181
|
0.02258
|
|
NM_000136.3(FANCC):c.1345G>A (p.Val449Met)
|
rs1800367
|
0.02254
|
|
NM_000051.4(ATM):c.5497-8T>C
|
rs3092829
|
0.02183
|
|
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)
|
rs45532440
|
0.02171
|
|
NM_024675.4(PALB2):c.212-58A>C
|
rs80291632
|
0.02171
|
|
NM_000051.4(ATM):c.2639-17G>T
|
rs2234994
|
0.02161
|
|
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)
|
rs3092856
|
0.02156
|
|
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg)
|
rs2228456
|
0.02135
|
|
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu)
|
rs57605939
|
0.02101
|
|
NM_000059.4(BRCA2):c.7397= (p.Val2466=)
|
rs169547
|
0.02098
|
|
NM_004360.5(CDH1):c.1896C>T (p.His632=)
|
rs33969373
|
0.02054
|
|
NM_007294.4(BRCA1):c.5075-53C>T
|
rs8176258
|
0.01914
|
|
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)
|
rs2235000
|
0.01889
|
|
NM_024675.4(PALB2):c.1684+29A>G
|
rs74320059
|
0.01884
|
|
NM_002485.5(NBN):c.1914+9C>T
|
rs13312938
|
0.01874
|
|
NM_006231.4(POLE):c.2320-13A>G
|
rs75329753
|
0.01853
|
|
NM_005732.4(RAD50):c.1052-38C>T
|
rs104895045
|
0.01852
|
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01834
|
|
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)
|
rs45551636
|
0.01717
|
|
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)
|
rs4987188
|
0.01714
|
|
NM_004360.5(CDH1):c.2634C>T (p.Gly878=)
|
rs2229044
|
0.01638
|
|
NM_000546.6(TP53):c.993+12T>C
|
rs1800899
|
0.01614
|
|
NM_000051.4(ATM):c.186-17A>G
|
rs4987907
|
0.01587
|
|
NM_007194.4(CHEK2):c.1542+11T>A
|
rs17881716
|
0.01583
|
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
|
NM_000051.4(ATM):c.2193C>T (p.Tyr731=)
|
rs2229019
|
0.01543
|
|
NM_000051.4(ATM):c.1636C>G (p.Leu546Val)
|
rs2227924
|
0.01541
|
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
|
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)
|
rs1800362
|
0.01494
|
|
NM_000136.3(FANCC):c.843+4C>T
|
rs4647506
|
0.01468
|
|
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)
|
rs1800057
|
0.01452
|
|
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser)
|
rs28997576
|
0.01443
|
|
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)
|
rs33935154
|
0.01412
|
|
NM_000051.4(ATM):c.6095+15T>C
|
rs3212321
|
0.01395
|
|
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)
|
rs3218673
|
0.01393
|
|
NM_000051.4(ATM):c.2685A>G (p.Leu895=)
|
rs3218687
|
0.01393
|
|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)
|
rs35719940
|
0.01370
|
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
|
NM_000546.6(TP53):c.639A>G (p.Arg213=)
|
rs1800372
|
0.01275
|
|
NM_004996.4(ABCC1):c.2168G>A (p.Arg723Gln)
|
rs4148356
|
0.01253
|
|
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)
|
rs3092857
|
0.01233
|
|
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)
|
rs9590940
|
0.01220
|
|
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)
|
rs1800058
|
0.01150
|
|
NM_000251.3(MSH2):c.2766T>C (p.Phe922=)
|
rs55859129
|
0.01118
|
|
NM_000051.4(ATM):c.6572+12G>T
|
rs3218677
|
0.01112
|
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
|
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly)
|
rs28363284
|
0.01102
|
|
NM_000051.4(ATM):c.735C>T (p.Val245=)
|
rs3218674
|
0.01085
|
|
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=)
|
rs6972869
|
0.01065
|
|
NM_000059.4(BRCA2):c.8487+19A>G
|
rs11571743
|
0.01055
|
|
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
|
rs2227945
|
0.01054
|
|
NM_000249.4(MLH1):c.588+11G>C
|
rs4647258
|
0.00993
|
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
|
NM_000546.6(TP53):c.108G>A (p.Pro36=)
|
rs1800370
|
0.00974
|
|
NM_004360.5(CDH1):c.933C>G (p.Leu311=)
|
rs35539711
|
0.00974
|
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
|
NM_004360.5(CDH1):c.-71C>G
|
rs34033771
|
0.00927
|
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
|
NM_024675.4(PALB2):c.925A>G (p.Ile309Val)
|
rs3809683
|
0.00919
|
|
NM_024675.4(PALB2):c.2586+81C>T
|
rs114710547
|
0.00885
|
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
|
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)
|
rs1800056
|
0.00861
|
|
NM_000051.4(ATM):c.3993+133A>G
|
rs142220799
|
0.00855
|
|
NM_003620.4(PPM1D):c.1149A>C (p.Gly383=)
|
rs111239559
|
0.00849
|
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00847
|
|
NM_000051.4(ATM):c.2922-21T>G
|
rs149096247
|
0.00835
|
|
NM_000051.4(ATM):c.8419-19A>G
|
rs12279930
|
0.00824
|
|
NM_000249.4(MLH1):c.637G>A (p.Val213Met)
|
rs2308317
|
0.00818
|
|
NM_000136.3(FANCC):c.1330-3C>T
|
rs4647542
|
0.00811
|
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
|
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)
|
rs45574331
|
0.00792
|
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
|
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
|
NM_000465.4(BARD1):c.609A>C (p.Gly203=)
|
rs28997574
|
0.00787
|
|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)
|
rs4986761
|
0.00782
|
|
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)
|
rs11571642
|
0.00768
|
|
NM_002485.5(NBN):c.37+5G>A
|
rs116735828
|
0.00767
|
|
NM_000051.4(ATM):c.544G>C (p.Val182Leu)
|
rs3218707
|
0.00757
|
|
NM_024675.4(PALB2):c.2996+183del
|
rs199767268
|
0.00748
|
|
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)
|
rs61754118
|
0.00745
|
|
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)
|
rs3738888
|
0.00736
|
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
|
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala)
|
rs3026268
|
0.00711
|
|
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)
|
rs28897679
|
0.00707
|
|
NM_000059.4(BRCA2):c.517-19C>T
|
rs11571623
|
0.00693
|
|
NM_007294.4(BRCA1):c.548-80T>C
|
rs8176143
|
0.00692
|
|
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu)
|
rs114472821
|
0.00679
|
|
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)
|
rs4988111
|
0.00660
|
|
NM_000051.4(ATM):c.3747-34A>G
|
rs3092840
|
0.00656
|
|
NM_000059.4(BRCA2):c.5704G>A
|
rs4987048
|
0.00655
|
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
|
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)
|
rs1800060
|
0.00649
|
|
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)
|
rs2229020
|
0.00636
|
|
NC_000016.10:g.23641315C>G
|
rs138200248
|
0.00631
|
|
NM_005732.4(RAD50):c.3037-3T>C
|
rs115737081
|
0.00627
|
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
|
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)
|
rs3092910
|
0.00608
|
|
NM_000051.4(ATM):c.4042T>C (p.Leu1348=)
|
rs56355831
|
0.00599
|
|
NM_000059.4(BRCA2):c.9257-16T>C
|
rs11571818
|
0.00597
|
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
|
NM_022725.4(FANCF):c.557C>T (p.Ala186Val)
|
rs113910234
|
0.00595
|
|
NM_032043.3(BRIP1):c.206-21T>C
|
rs2048717
|
0.00589
|
|
NM_000051.4(ATM):c.186-7C>T
|
rs55674039
|
0.00568
|
|
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)
|
rs141458772
|
0.00560
|
|
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)
|
rs17886163
|
0.00555
|
|
NM_002485.5(NBN):c.37+11A>G
|
rs115032431
|
0.00540
|
|
NM_000059.4(BRCA2):c.-11C>T
|
rs76874770
|
0.00539
|
|
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)
|
rs138789658
|
0.00530
|
|
NM_001365951.3(KIF1B):c.2115+6956A>G
|
rs148481786
|
0.00525
|
|
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)
|
rs145847315
|
0.00517
|
|
NM_007294.4(BRCA1):c.5406+8T>C
|
rs55946644
|
0.00514
|
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
|
NM_003981.4(PRC1):c.971-441G>A
|
rs59025289
|
0.00503
|
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
|
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val)
|
rs111536363
|
0.00480
|
|
NM_003620.4(PPM1D):c.456C>T (p.Ala152=)
|
rs149400522
|
0.00475
|
|
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile)
|
rs2230017
|
0.00469
|
|
NM_007294.4(BRCA1):c.5468-10C>A
|
rs8176316
|
0.00464
|
|
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln)
|
rs28363283
|
0.00457
|
|
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys)
|
rs35306212
|
0.00455
|
|
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)
|
rs45624036
|
0.00449
|
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
|
NM_000059.4(BRCA2):c.7008-62A>G
|
rs76584943
|
0.00439
|
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
|
NM_000179.3(MSH6):c.1345C>T (p.Leu449=)
|
rs3136333
|
0.00429
|
|
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)
|
rs56815840
|
0.00424
|
|
NM_005732.4(RAD50):c.2910C>T (p.Asp970=)
|
rs148269640
|
0.00422
|
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
|
NM_000051.4(ATM):c.5005+18G>A
|
rs76290788
|
0.00414
|
|
NM_003072.5(SMARCA4):c.3547-11T>C
|
rs190104006
|
0.00408
|
|
NM_002878.4(RAD51D):c.873C>T (p.Arg291=)
|
rs140848654
|
0.00399
|
|
NM_000051.4(ATM):c.1176C>G (p.Gly392=)
|
rs1800727
|
0.00388
|
|
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys)
|
rs115052399
|
0.00370
|
|
NM_000051.4(ATM):c.5497-15G>C
|
rs3092828
|
0.00363
|
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
|
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)
|
rs1800368
|
0.00361
|
|
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile)
|
rs2227944
|
0.00356
|
|
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser)
|
rs2227943
|
0.00355
|
|
NM_024675.4(PALB2):c.3113+131G>T
|
rs150730533
|
0.00355
|
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00349
|
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
|
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=)
|
rs34355306
|
0.00335
|
|
NM_052997.3(ANKRD30A):c.3939_3940del (p.Glu1314fs)
|
rs763931520
|
0.00327
|
|
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=)
|
rs35800931
|
0.00325
|
|
NM_058216.3(RAD51C):c.186A>G (p.Gln62=)
|
rs28363303
|
0.00322
|
|
NM_006904.7(PRKDC):c.9446G>A (p.Gly3149Asp)
|
rs8178208
|
0.00320
|
|
NM_024675.4(PALB2):c.1572A>G (p.Ser524=)
|
rs45472400
|
0.00312
|
|
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)
|
rs35187787
|
0.00311
|
|
NM_001372051.1(CASP8):c.339C>T (p.Ser113=)
|
rs17860422
|
0.00309
|
|
NM_024675.4(PALB2):c.1419A>C (p.Pro473=)
|
rs62625275
|
0.00309
|
|
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)
|
rs41293485
|
0.00307
|
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
|
NM_003620.4(PPM1D):c.1017+51A>G
|
rs144142345
|
0.00301
|
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
|
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu)
|
rs28903085
|
0.00300
|
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
|
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)
|
rs2219594
|
0.00292
|
|
NM_000051.4(ATM):c.3993+5G>T
|
rs3092842
|
0.00287
|
|
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.*128A>G
|
rs150444311
|
0.00277
|
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
|
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)
|
rs70953664
|
0.00272
|
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
|
NM_007194.4(CHEK2):c.592+50A>T
|
rs17881298
|
0.00270
|
|
NM_000051.4(ATM):c.7630-17T>C
|
rs116047570
|
0.00268
|
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
|
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)
|
rs641252
|
0.00265
|
|
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn)
|
rs34309943
|
0.00264
|
|
NM_004360.5(CDH1):c.324A>G (p.Arg108=)
|
rs116542018
|
0.00255
|
|
NM_006502.3(POLH):c.626G>T (p.Gly209Val)
|
rs2307456
|
0.00253
|
|
NM_007294.4(BRCA1):c.4987-20A>G
|
rs80358035
|
0.00252
|
|
NM_000553.6(WRN):c.970A>G (p.Thr324Ala)
|
rs1800390
|
0.00245
|
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
|
NM_004360.5(CDH1):c.345G>A (p.Thr115=)
|
rs1801023
|
0.00236
|
|
NM_007194.4(CHEK2):c.593-14C>T
|
rs145754558
|
0.00235
|
|
NM_007294.4(BRCA1):c.114G>A (p.Lys38=)
|
rs1800062
|
0.00233
|
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
|
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=)
|
rs61754138
|
0.00228
|
|
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg)
|
rs34969857
|
0.00218
|
|
NM_007294.4(BRCA1):c.-19-361C>T
|
rs141625477
|
0.00217
|
|
NM_005732.4(RAD50):c.2670G>A (p.Gln890=)
|
rs112241748
|
0.00216
|
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00215
|
|
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser)
|
rs145068586
|
0.00212
|
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
|
NM_000455.5(STK11):c.464+9G>A
|
rs376313955
|
0.00208
|
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
|
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)
|
rs55977008
|
0.00203
|
|
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)
|
rs141893001
|
0.00203
|
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
|
NM_024675.4(PALB2):c.1810C>T (p.Leu604=)
|
rs144015319
|
0.00202
|
|
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp)
|
rs113217267
|
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_001040108.2(MLH3):c.2425A>G (p.Met809Val)
|
rs61752722
|
0.00197
|
|
NM_024675.4(PALB2):c.2514+71del
|
rs180177114
|
0.00197
|
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
|
NM_000051.4(ATM):c.8269-14A>T
|
rs114320959
|
0.00195
|
|
NM_016292.3(TRAP1):c.2053G>A (p.Asp685Asn)
|
rs61756352
|
0.00195
|
|
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=)
|
rs75091137
|
0.00194
|
|
NM_024675.4(PALB2):c.1606C>T (p.Leu536=)
|
rs151162255
|
0.00193
|
|
NM_024675.4(PALB2):c.2256A>G (p.Gly752=)
|
rs147120218
|
0.00193
|
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
|
NM_007194.4(CHEK2):c.1407G>A (p.Val469=)
|
rs17881378
|
0.00190
|
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
|
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=)
|
rs80356851
|
0.00183
|
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00176
|
|
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=)
|
rs61754141
|
0.00173
|
|
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln)
|
rs121917739
|
0.00171
|
|
NM_002878.4(RAD51D):c.481-7G>A
|
rs145832514
|
0.00171
|
|
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His)
|
rs75419644
|
0.00170
|
|
NM_024675.4(PALB2):c.3351-48G>T
|
rs201335445
|
0.00170
|
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
|
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)
|
rs55969723
|
0.00168
|
|
NM_000314.8(PTEN):c.132C>T (p.Gly44=)
|
rs150651961
|
0.00168
|
|
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)
|
rs80116829
|
0.00167
|
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
|
NM_007294.4(BRCA1):c.21C>T (p.Arg7=)
|
rs149402012
|
0.00165
|
|
NM_024675.4(PALB2):c.2996+124C>T
|
rs151026179
|
0.00164
|
|
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn)
|
rs139555085
|
0.00160
|
|
NM_000251.3(MSH2):c.1277-8T>C
|
rs145400590
|
0.00159
|
|
NM_004360.5(CDH1):c.2292C>T (p.Asp764=)
|
rs61747636
|
0.00159
|
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
|
NM_000314.8(PTEN):c.1104T>C (p.Asp368=)
|
rs35979531
|
0.00158
|
|
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)
|
rs56128296
|
0.00158
|
|
NM_005732.4(RAD50):c.2091C>T (p.Val697=)
|
rs61747588
|
0.00156
|
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
|
NM_032043.3(BRIP1):c.2061G>C (p.Val687=)
|
rs112414873
|
0.00153
|
|
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=)
|
rs147448807
|
0.00150
|
|
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)
|
rs56158747
|
0.00150
|
|
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=)
|
rs4986844
|
0.00147
|
|
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)
|
rs61734354
|
0.00146
|
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
|
NM_004360.5(CDH1):c.2440-6C>G
|
rs139757930
|
0.00145
|
|
NM_000249.4(MLH1):c.2146G>A (p.Val716Met)
|
rs35831931
|
0.00143
|
|
NM_024675.4(PALB2):c.2742C>T (p.Phe914=)
|
rs115759702
|
0.00143
|
|
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg)
|
rs55775473
|
0.00141
|
|
NM_024675.4(PALB2):c.*232G>T
|
rs180748355
|
0.00141
|
|
NC_000016.10:g.23603112T>G
|
rs515726053
|
0.00140
|
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
|
NM_000314.8(PTEN):c.-9C>G
|
rs11202592
|
0.00139
|
|
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)
|
rs55816687
|
0.00138
|
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
|
NM_005732.4(RAD50):c.3165-4A>T
|
rs104895050
|
0.00133
|
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
|
NM_024675.4(PALB2):c.2748+121T>C
|
rs515726093
|
0.00131
|
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
|
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)
|
rs144761622
|
0.00126
|
|
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)
|
rs55712212
|
0.00126
|
|
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)
|
rs140781259
|
0.00126
|
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
|
NM_000455.5(STK11):c.598-8C>T
|
rs373610101
|
0.00123
|
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
|
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)
|
rs45439097
|
0.00121
|
|
NM_001184.4(ATR):c.992A>G (p.Asp331Gly)
|
rs150008448
|
0.00120
|
|
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
|
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)
|
rs28538230
|
0.00114
|
|
NM_024675.4(PALB2):c.2834+18A>T
|
rs114491776
|
0.00113
|
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
|
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)
|
rs145473716
|
0.00110
|
|
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
|
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=)
|
rs11571652
|
0.00109
|
|
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)
|
rs142959373
|
0.00109
|
|
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)
|
rs56091799
|
0.00108
|
|
NM_007294.4(BRCA1):c.765G>A (p.Glu255=)
|
rs62625299
|
0.00107
|
|
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)
|
rs55933907
|
0.00106
|
|
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)
|
rs80357459
|
0.00106
|
|
NM_058216.3(RAD51C):c.195A>G (p.Arg65=)
|
rs45511291
|
0.00105
|
|
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)
|
rs147021911
|
0.00104
|
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
|
NM_000051.4(ATM):c.2127T>C (p.Ile709=)
|
rs56252953
|
0.00102
|
|
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=)
|
rs147961615
|
0.00102
|
|
NM_000179.3(MSH6):c.984C>T (p.Ser328=)
|
rs138143769
|
0.00101
|
|
NM_024675.4(PALB2):c.909C>T (p.Leu303=)
|
rs145788619
|
0.00101
|
|
NC_000022.11:g.28742014G>A
|
rs187164042
|
0.00100
|
|
NM_033360.4(KRAS):c.5-18A>G
|
rs200189105
|
0.00100
|
|
NM_007294.4(BRCA1):c.5277+78G>A
|
rs80358107
|
0.00099
|
|
NM_024675.4(PALB2):c.2365C>T (p.Leu789=)
|
rs145805054
|
0.00099
|
|
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)
|
rs4986854
|
0.00098
|
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
|
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
|
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val)
|
rs56321129
|
0.00095
|
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
|
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala)
|
rs45491005
|
0.00088
|
|
NM_000465.4(BARD1):c.90T>A (p.Gly30=)
|
rs150354152
|
0.00088
|
|
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)
|
rs144567652
|
0.00088
|
|
NM_000465.4(BARD1):c.216-13A>T
|
rs1272210676
|
0.00086
|
|
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys)
|
rs115031549
|
0.00083
|
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00082
|
|
NM_024675.4(PALB2):c.2587-38C>G
|
rs180177119
|
0.00082
|
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
|
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)
|
rs146382972
|
0.00080
|
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
|
NM_000051.4(ATM):c.3517T>C (p.Leu1173=)
|
rs141460670
|
0.00079
|
|
NM_000051.4(ATM):c.7928-10T>C
|
rs188404773
|
0.00079
|
|
NM_024675.4(PALB2):c.2835-27C>T
|
rs199757736
|
0.00079
|
|
NM_032043.3(BRIP1):c.2257+19A>C
|
rs77851913
|
0.00079
|
|
NM_032043.3(BRIP1):c.918+15T>A
|
rs117820198
|
0.00078
|
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
|
NM_007294.4(BRCA1):c.-86C>T
|
rs143160357
|
0.00077
|
|
NM_000051.4(ATM):c.3150T>C (p.Leu1050=)
|
rs3092859
|
0.00076
|
|
NM_032043.3(BRIP1):c.195A>G (p.Gln65=)
|
rs141436143
|
0.00076
|
|
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
|
rs145855459
|
0.00076
|
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
|
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)
|
rs147523071
|
0.00071
|
|
NM_005732.4(RAD50):c.885+11G>A
|
rs117081789
|
0.00071
|
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
|
NM_000455.5(STK11):c.597+14del
|
rs536282050
|
0.00067
|
|
NM_000059.4(BRCA2):c.-15A>C
|
rs138705202
|
0.00066
|
|
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg)
|
rs55720177
|
0.00066
|
|
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)
|
rs147692158
|
0.00065
|
|
NM_007194.4(CHEK2):c.-6G>A
|
rs376995740
|
0.00065
|
|
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
|
rs1800704
|
0.00065
|
|
NM_004655.4(AXIN2):c.2285G>A (p.Ser762Asn)
|
rs117688560
|
0.00064
|
|
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)
|
rs28897693
|
0.00064
|
|
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=)
|
rs56289559
|
0.00063
|
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
|
NM_000249.4(MLH1):c.375A>G (p.Ala125=)
|
rs1800144
|
0.00062
|
|
NM_002691.4(POLD1):c.581C>G (p.Ser194Cys)
|
rs144656348
|
0.00061
|
|
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=)
|
rs142459158
|
0.00061
|
|
NM_000455.5(STK11):c.945G>A (p.Pro315=)
|
rs376329042
|
0.00060
|
|
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)
|
rs28897677
|
0.00060
|
|
NM_024675.4(PALB2):c.2996+17T>C
|
rs180177128
|
0.00060
|
|
NM_000059.4(BRCA2):c.4071A>C (p.Leu1357=)
|
rs140556653
|
0.00059
|
|
NM_003981.4(PRC1):c.*342A>G
|
rs112187198
|
0.00059
|
|
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro)
|
rs56119278
|
0.00059
|
|
NM_000179.3(MSH6):c.1869C>T (p.Pro623=)
|
rs141242295
|
0.00058
|
|
NM_000245.4(MET):c.406G>A (p.Val136Ile)
|
rs199701987
|
0.00058
|
|
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr)
|
rs55808233
|
0.00058
|
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00058
|
|
NM_004360.5(CDH1):c.2439+10C>T
|
rs35236080
|
0.00057
|
|
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)
|
rs138828590
|
0.00056
|
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00056
|
|
NM_024675.4(PALB2):c.2749-18C>T
|
rs182194007
|
0.00055
|
|
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
|
rs116952709
|
0.00055
|
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
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_000251.3(MSH2):c.1563T>C (p.Tyr521=)
|
rs63750330
|
0.00053
|
|
NM_002691.4(POLD1):c.1665C>T (p.Val555=)
|
rs150238541
|
0.00053
|
|
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)
|
rs56025670
|
0.00051
|
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
|
NM_000465.4(BARD1):c.1678-20A>G
|
rs189401077
|
0.00051
|
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
|
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu)
|
rs150390726
|
0.00051
|
|
NM_032043.3(BRIP1):c.1935+11G>A
|
rs79121306
|
0.00051
|
|
NM_000465.4(BARD1):c.144G>A (p.Leu48=)
|
rs151168457
|
0.00050
|
|
NM_024675.4(PALB2):c.3201+96G>A
|
rs373044186
|
0.00050
|
|
NM_000465.4(BARD1):c.215+12C>T
|
rs373816832
|
0.00049
|
|
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly)
|
rs28897745
|
0.00048
|
|
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)
|
rs80359810
|
0.00048
|
|
NM_032043.3(BRIP1):c.317G>A (p.Arg106His)
|
rs143615668
|
0.00048
|
|
NM_000059.4(BRCA2):c.9649-19G>A
|
rs11571830
|
0.00047
|
|
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=)
|
rs11571832
|
0.00047
|
|
NM_000455.5(STK11):c.1185A>G (p.Thr395=)
|
rs370207155
|
0.00047
|
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
|
NM_000136.3(FANCC):c.672C>T (p.Asn224=)
|
rs150647141
|
0.00046
|
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
|
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)
|
rs34136999
|
0.00046
|
|
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)
|
rs80356892
|
0.00046
|
|
NM_000059.4(BRCA2):c.7976+12G>A
|
rs81002827
|
0.00045
|
|
NM_004360.5(CDH1):c.1744C>T (p.Leu582=)
|
rs1801025
|
0.00045
|
|
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)
|
rs138393322
|
0.00044
|
|
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)
|
rs142334798
|
0.00044
|
|
NM_003620.4(PPM1D):c.1405A>G (p.Lys469Glu)
|
rs61756416
|
0.00044
|
|
NM_000251.3(MSH2):c.1680T>C (p.Asn560=)
|
rs200056411
|
0.00043
|
|
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=)
|
rs150269172
|
0.00043
|
|
NM_007294.4(BRCA1):c.-20+11C>T
|
rs273898672
|
0.00042
|
|
NM_000249.4(MLH1):c.702G>A (p.Glu234=)
|
rs35908749
|
0.00041
|
|
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)
|
rs145309168
|
0.00041
|
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
|
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)
|
rs121908162
|
0.00040
|
|
NM_007194.4(CHEK2):c.319+3966G>A
|
rs137926355
|
0.00040
|
|
NM_000465.4(BARD1):c.348T>C (p.His116=)
|
rs139934362
|
0.00039
|
|
NM_000535.7(PMS2):c.1560G>A (p.Ala520=)
|
rs201167814
|
0.00039
|
|
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)
|
rs3218699
|
0.00038
|
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
|
NM_000179.3(MSH6):c.1449G>T (p.Val483=)
|
rs35590297
|
0.00037
|
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
|
NM_007194.4(CHEK2):c.*18C>T
|
rs17884403
|
0.00037
|
|
NM_000051.4(ATM):c.6808-22C>A
|
rs3218700
|
0.00036
|
|
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00034
|
|
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)
|
rs142777869
|
0.00034
|
|
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=)
|
rs142692907
|
0.00034
|
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
|
NM_024675.4(PALB2):c.2834+15A>G
|
rs149791114
|
0.00034
|
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
|
NM_032043.3(BRIP1):c.380-17T>A
|
rs200050729
|
0.00034
|
|
NM_000136.3(FANCC):c.*5C>T
|
rs117175949
|
0.00033
|
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
|
NM_000051.4(ATM):c.103C>A (p.Arg35=)
|
rs55861249
|
0.00032
|
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
|
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro)
|
rs28897701
|
0.00032
|
|
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn)
|
rs80359065
|
0.00032
|
|
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys)
|
rs138749920
|
0.00032
|
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
|
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=)
|
rs587780890
|
0.00032
|
|
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser)
|
rs80357015
|
0.00032
|
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00031
|
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
|
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)
|
rs55870064
|
0.00030
|
|
NM_000051.4(ATM):c.7044G>A (p.Thr2348=)
|
rs140104789
|
0.00030
|
|
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)
|
rs149827260
|
0.00030
|
|
NM_001253772.2(SYT6):c.1471G>A (p.Ala491Thr)
|
rs142164979
|
0.00030
|
|
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys)
|
rs72550742
|
0.00030
|
|
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.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00029
|
|
NM_000251.3(MSH2):c.471C>A (p.Gly157=)
|
rs61756463
|
0.00029
|
|
NM_000465.4(BARD1):c.1515G>T (p.Gly505=)
|
rs139721211
|
0.00029
|
|
NM_000465.4(BARD1):c.346C>T (p.His116Tyr)
|
rs144856889
|
0.00029
|
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
|
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)
|
rs41286298
|
0.00029
|
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
|
NM_032043.3(BRIP1):c.173G>A (p.Cys58Tyr)
|
rs749920386
|
0.00029
|
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
|
NM_002878.4(RAD51D):c.216C>T (p.Tyr72=)
|
rs148690585
|
0.00028
|
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
|
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser)
|
rs139182500
|
0.00028
|
|
NM_007294.4(BRCA1):c.548-17G>T
|
rs80358014
|
0.00028
|
|
NM_000455.5(STK11):c.*8C>T
|
rs587782259
|
0.00027
|
|
NM_000465.4(BARD1):c.1491A>G (p.Pro497=)
|
rs61754117
|
0.00027
|
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
|
NM_004360.5(CDH1):c.303C>T (p.Tyr101=)
|
rs150789339
|
0.00027
|
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
|
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)
|
rs200451612
|
0.00027
|
|
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu)
|
rs28897688
|
0.00027
|
|
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)
|
rs367610893
|
0.00027
|
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
|
NM_000059.4(BRCA2):c.2208A>G (p.Ala736=)
|
rs144984153
|
0.00026
|
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
|
NM_000059.4(BRCA2):c.516+14C>T
|
rs182828913
|
0.00026
|
|
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His)
|
rs41293521
|
0.00026
|
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
|
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)
|
rs200894246
|
0.00026
|
|
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)
|
rs146370443
|
0.00026
|
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
|
NM_007194.4(CHEK2):c.444+19T>C
|
rs200501745
|
0.00026
|
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
|
NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp)
|
rs202241382
|
0.00026
|
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
|
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)
|
rs80358674
|
0.00025
|
|
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=)
|
rs369047997
|
0.00025
|
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
0.00025
|
|
NM_000051.4(ATM):c.2251-19T>C
|
rs370713089
|
0.00024
|
|
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)
|
rs145009419
|
0.00024
|
|
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)
|
rs80357257
|
0.00024
|
|
NM_007294.4(BRCA1):c.528G>A (p.Thr176=)
|
rs34545365
|
0.00024
|
|
NM_020975.6(RET):c.785T>C (p.Val262Ala)
|
rs139790943
|
0.00024
|
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
|
NM_000455.5(STK11):c.1194G>A (p.Ala398=)
|
rs184271025
|
0.00023
|
|
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg)
|
rs587782484
|
0.00023
|
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
|
NC_000011.10:g.62707486C>T
|
rs190405606
|
0.00022
|
|
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser)
|
rs2235011
|
0.00022
|
|
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)
|
rs146243469
|
0.00022
|
|
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)
|
rs28897755
|
0.00022
|
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
|
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)
|
rs142063461
|
0.00022
|
|
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00022
|
|
NM_004360.5(CDH1):c.2589C>T (p.Asn863=)
|
rs115817750
|
0.00022
|
|
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=)
|
rs80356833
|
0.00022
|
|
NM_007294.4(BRCA1):c.807G>A (p.Leu269=)
|
rs149867679
|
0.00022
|
|
NM_000051.4(ATM):c.4871A>G (p.His1624Arg)
|
rs56354559
|
0.00021
|
|
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr)
|
rs145812395
|
0.00021
|
|
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)
|
rs587781722
|
0.00021
|
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
|
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_004360.5(CDH1):c.670C>T (p.Arg224Cys)
|
rs200310662
|
0.00021
|
|
NM_007294.4(BRCA1):c.3804T>C (p.Asn1268=)
|
rs140588714
|
0.00021
|
|
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp)
|
rs80356920
|
0.00021
|
|
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile)
|
rs80357090
|
0.00021
|
|
NM_024675.4(PALB2):c.1281T>C (p.Ala427=)
|
rs138697796
|
0.00021
|
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
|
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)
|
rs45594034
|
0.00021
|
|
NM_032043.3(BRIP1):c.852C>T (p.Val284=)
|
rs144940449
|
0.00021
|
|
NM_000051.4(ATM):c.3402+17T>C
|
rs3092825
|
0.00020
|
|
NM_000059.4(BRCA2):c.198A>G (p.Gln66=)
|
rs28897700
|
0.00020
|
|
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)
|
rs80358906
|
0.00020
|
|
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr)
|
rs75023630
|
0.00020
|
|
NM_024675.4(PALB2):c.2244A>G (p.Thr748=)
|
rs750048627
|
0.00020
|
|
NM_000051.3(ATM):c.-371G>C
|
rs890835455
|
0.00019
|
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
|
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)
|
rs35962982
|
0.00019
|
|
NM_000051.4(ATM):c.4980C>T (p.Asn1660=)
|
rs144338238
|
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.7516A>G (p.Arg2506Gly)
|
rs200441272
|
0.00019
|
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
|
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys)
|
rs55794205
|
0.00019
|
|
NM_000059.4(BRCA2):c.7805+13A>G
|
rs149769332
|
0.00019
|
|
NM_000059.4(BRCA2):c.8487+8G>A
|
rs81002838
|
0.00019
|
|
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met)
|
rs59004709
|
0.00019
|
|
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)
|
rs143152201
|
0.00019
|
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
|
NM_000465.4(BARD1):c.1314+11T>G
|
rs192972931
|
0.00019
|
|
NM_000465.4(BARD1):c.308G>A (p.Ser103Asn)
|
rs145629242
|
0.00019
|
|
NM_000465.4(BARD1):c.57G>A (p.Glu19=)
|
rs730881406
|
0.00019
|
|
NM_002485.5(NBN):c.2220T>C (p.Ala740=)
|
rs147494981
|
0.00019
|
|
NM_004360.5(CDH1):c.1296C>T (p.Asn432=)
|
rs187862045
|
0.00019
|
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
|
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys)
|
rs55650082
|
0.00019
|
|
NM_007294.4(BRCA1):c.4484+14A>G
|
rs80358022
|
0.00019
|
|
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)
|
rs80357087
|
0.00019
|
|
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg)
|
rs80357436
|
0.00019
|
|
NM_007294.4(BRCA1):c.828A>G (p.Thr276=)
|
rs186274774
|
0.00019
|
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
0.00019
|
|
NM_032043.3(BRIP1):c.380-5A>G
|
rs587782131
|
0.00019
|
|
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)
|
rs150313156
|
0.00019
|
|
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)
|
rs555219189
|
0.00018
|
|
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)
|
rs11571653
|
0.00018
|
|
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly)
|
rs55689095
|
0.00018
|
|
NM_000455.5(STK11):c.618G>A (p.Ala206=)
|
rs370976710
|
0.00018
|
|
NM_000465.4(BARD1):c.2082C>T (p.Leu694=)
|
rs139620052
|
0.00018
|
|
NM_002878.4(RAD51D):c.904-3C>T
|
rs45478491
|
0.00018
|
|
NM_007294.4(BRCA1):c.5406+33A>T
|
rs80358092
|
0.00018
|
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
|
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)
|
rs587781812
|
0.00017
|
|
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=)
|
rs3092826
|
0.00017
|
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
|
NM_000051.4(ATM):c.7552C>T (p.Pro2518Ser)
|
rs374876799
|
0.00017
|
|
NM_000535.7(PMS2):c.-7T>C
|
rs199660792
|
0.00017
|
|
NM_003981.4(PRC1):c.*733G>A
|
rs112770009
|
0.00017
|
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00017
|
|
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile)
|
rs28897690
|
0.00017
|
|
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val)
|
rs141458731
|
0.00017
|
|
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=)
|
rs145796331
|
0.00017
|
|
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser)
|
rs550707862
|
0.00017
|
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
|
NM_000051.4(ATM):c.2848C>T (p.Leu950Phe)
|
rs763064034
|
0.00016
|
|
NM_000051.4(ATM):c.7224G>A (p.Ser2408=)
|
rs145747513
|
0.00016
|
|
NM_000051.4(ATM):c.8584+10T>C
|
rs373321041
|
0.00016
|
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
|
NM_000059.4(BRCA2):c.3417G>A (p.Lys1139=)
|
rs145625991
|
0.00016
|
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
|
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
|
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)
|
rs80357201
|
0.00016
|
|
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)
|
rs373876101
|
0.00016
|
|
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)
|
rs183489969
|
0.00016
|
|
NM_032043.3(BRIP1):c.1872G>A (p.Ser624=)
|
rs145504336
|
0.00016
|
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
|
NM_000051.4(ATM):c.2887A>G (p.Met963Val)
|
rs374353016
|
0.00015
|
|
NM_000051.4(ATM):c.7244C>G (p.Ala2415Gly)
|
rs370567994
|
0.00015
|
|
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)
|
rs55982963
|
0.00015
|
|
NM_000465.4(BARD1):c.1554C>T (p.Ala518=)
|
rs139612775
|
0.00015
|
|
NM_000465.4(BARD1):c.44G>T (p.Arg15Leu)
|
rs545107676
|
0.00015
|
|
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg)
|
rs145428112
|
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_000038.6(APC):c.6609T>C (p.Val2203=)
|
rs149328018
|
0.00014
|
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
|
NM_000051.4(ATM):c.3077+4G>A
|
rs201222237
|
0.00014
|
|
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)
|
rs146017595
|
0.00014
|
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
|
NM_000051.4(ATM):c.4267T>C (p.Cys1423Arg)
|
rs587782442
|
0.00014
|
|
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala)
|
rs142455912
|
0.00014
|
|
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr)
|
rs372838622
|
0.00014
|
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00014
|
|
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)
|
rs201118107
|
0.00014
|
|
NM_000465.4(BARD1):c.1203T>C (p.Ser401=)
|
rs370553043
|
0.00014
|
|
NM_000465.4(BARD1):c.279A>G (p.Gln93=)
|
rs370000575
|
0.00014
|
|
NM_000546.6(TP53):c.672+18G>C
|
rs199578278
|
0.00014
|
|
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)
|
rs192236678
|
0.00014
|
|
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)
|
rs747315554
|
0.00014
|
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
|
NM_004360.5(CDH1):c.1353T>C (p.Ile451=)
|
rs114192597
|
0.00014
|
|
NM_007194.4(CHEK2):c.-4C>T
|
rs374938148
|
0.00014
|
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
|
NM_024675.4(PALB2):c.212-70T>C
|
rs515726080
|
0.00014
|
|
NM_024675.4(PALB2):c.2586+10A>G
|
rs373321719
|
0.00014
|
|
NM_032043.3(BRIP1):c.-30-3T>C
|
rs370728413
|
0.00014
|
|
NM_032043.3(BRIP1):c.595C>T (p.Leu199=)
|
rs144969738
|
0.00014
|
|
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)
|
rs149331537
|
0.00014
|
|
NM_000051.4(ATM):c.131A>G (p.Asp44Gly)
|
rs150143957
|
0.00013
|
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
|
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)
|
rs145513717
|
0.00013
|
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
|
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg)
|
rs142243359
|
0.00013
|
|
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val)
|
rs80358589
|
0.00013
|
|
NM_000059.4(BRCA2):c.68-3T>G
|
rs786201770
|
0.00013
|
|
NM_000059.4(BRCA2):c.6960G>A (p.Leu2320=)
|
rs373134168
|
0.00013
|
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
|
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)
|
rs202145681
|
0.00013
|
|
NM_000251.3(MSH2):c.505A>G (p.Ile169Val)
|
rs63750716
|
0.00013
|
|
NM_000465.4(BARD1):c.1904-485A>G
|
rs571154441
|
0.00013
|
|
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser)
|
rs138593305
|
0.00013
|
|
NM_002485.5(NBN):c.1124+6G>T
|
rs375862750
|
0.00013
|
|
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)
|
rs200911775
|
0.00013
|
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
|
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu)
|
rs4986847
|
0.00013
|
|
NM_024675.4(PALB2):c.1641C>T (p.Thr547=)
|
rs564514783
|
0.00013
|
|
NM_024675.4(PALB2):c.232G>A (p.Val78Ile)
|
rs515726085
|
0.00013
|
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
|
NM_024675.4(PALB2):c.48+7G>C
|
rs190626072
|
0.00013
|
|
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)
|
rs202228407
|
0.00013
|
|
NM_000051.4(ATM):c.2839-18T>C
|
rs553155942
|
0.00012
|
|
NM_000051.4(ATM):c.3628A>G (p.Met1210Val)
|
rs138212452
|
0.00012
|
|
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)
|
rs145667735
|
0.00012
|
|
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe)
|
rs377595814
|
0.00012
|
|
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=)
|
rs45525041
|
0.00012
|
|
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val)
|
rs55638633
|
0.00012
|
|
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)
|
rs398123230
|
0.00012
|
|
NM_000465.4(BARD1):c.1152C>T (p.Ser384=)
|
rs368291318
|
0.00012
|
|
NM_000535.7(PMS2):c.1320A>G (p.Pro440=)
|
rs138697590
|
0.00012
|
|
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile)
|
rs370864592
|
0.00012
|
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
|
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu)
|
rs80357024
|
0.00012
|
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
|
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His)
|
rs200894063
|
0.00012
|
|
NM_032043.3(BRIP1):c.3069C>T (p.Leu1023=)
|
rs61754142
|
0.00012
|
|
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr)
|
rs730881342
|
0.00011
|
|
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.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
|
NM_000051.4(ATM):c.6147T>C (p.Tyr2049=)
|
rs369940136
|
0.00011
|
|
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile)
|
rs587780634
|
0.00011
|
|
NM_000051.4(ATM):c.6348-8T>C
|
rs730881292
|
0.00011
|
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
|
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys)
|
rs531980488
|
0.00011
|
|
NM_000051.4(ATM):c.8154C>T (p.Gly2718=)
|
rs371021126
|
0.00011
|
|
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile)
|
rs28897715
|
0.00011
|
|
NM_000059.4(BRCA2):c.3054G>A (p.Lys1018=)
|
rs368404583
|
0.00011
|
|
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)
|
rs79483201
|
0.00011
|
|
NM_000059.4(BRCA2):c.9501+9A>C
|
rs81002867
|
0.00011
|
|
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)
|
rs121917783
|
0.00011
|
|
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)
|
rs143181565
|
0.00011
|
|
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)
|
rs63750370
|
0.00011
|
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
|
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)
|
rs201140528
|
0.00011
|
|
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr)
|
rs542692632
|
0.00011
|
|
NM_001184.4(ATR):c.1411G>C (p.Glu471Gln)
|
rs371350410
|
0.00011
|
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
|
NM_002485.5(NBN):c.1914+10G>A
|
rs577706448
|
0.00011
|
|
NM_002485.5(NBN):c.37+10G>C
|
rs369408590
|
0.00011
|
|
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser)
|
rs142454490
|
0.00011
|
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
|
NM_004360.5(CDH1):c.2643C>T (p.Asp881=)
|
rs114708971
|
0.00011
|
|
NM_006231.4(POLE):c.4169G>A (p.Arg1390His)
|
rs200776293
|
0.00011
|
|
NM_007194.4(CHEK2):c.1008+13C>T
|
rs193264230
|
0.00011
|
|
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=)
|
rs41286292
|
0.00011
|
|
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe)
|
rs80357250
|
0.00011
|
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
|
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr)
|
rs70953661
|
0.00011
|
|
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala)
|
rs56195342
|
0.00011
|
|
NM_007294.4(BRCA1):c.693G>A (p.Thr231=)
|
rs62625298
|
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_024675.4(PALB2):c.2027T>C (p.Ile676Thr)
|
rs200875161
|
0.00011
|
|
NM_024675.4(PALB2):c.3201+112A>G
|
rs376034945
|
0.00011
|
|
NM_032043.3(BRIP1):c.1089C>T (p.Asp363=)
|
rs139701369
|
0.00011
|
|
NM_032043.3(BRIP1):c.249A>G (p.Gln83=)
|
rs45528833
|
0.00011
|
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
|
NM_033360.4(KRAS):c.90C>T (p.Asp30=)
|
rs113623140
|
0.00011
|
|
NC_000016.10:g.23641351G>C
|
rs515726054
|
0.00010
|
|
NM_000051.4(ATM):c.1631T>C (p.Leu544Ser)
|
rs375754332
|
0.00010
|
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
|
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr)
|
rs587782239
|
0.00010
|
|
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)
|
rs753646931
|
0.00010
|
|
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
|
NM_000051.4(ATM):c.7789-15G>C
|
rs781449587
|
0.00010
|
|
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)
|
rs377648506
|
0.00010
|
|
NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp)
|
rs574039421
|
0.00010
|
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00010
|
|
NM_000059.4(BRCA2):c.8572C>T (p.Gln2858Ter)
|
rs80359112
|
0.00010
|
|
NM_000059.4(BRCA2):c.8633-16C>G
|
rs81002818
|
0.00010
|
|
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys)
|
rs140687953
|
0.00010
|
|
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys)
|
rs372990379
|
0.00010
|
|
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser)
|
rs587779934
|
0.00010
|
|
NM_000251.3(MSH2):c.1386+23T>G
|
rs747646424
|
0.00010
|
|
NM_000314.8(PTEN):c.579G>A (p.Leu193=)
|
rs568851024
|
0.00010
|
|
NM_000455.5(STK11):c.787T>C (p.Leu263=)
|
rs372378119
|
0.00010
|
|
NM_000465.4(BARD1):c.1568+15G>T
|
rs145936354
|
0.00010
|
|
NM_000465.4(BARD1):c.2002-11C>T
|
rs187240320
|
0.00010
|
|
NM_000465.4(BARD1):c.93C>T (p.Arg31=)
|
rs778803692
|
0.00010
|
|
NM_002485.5(NBN):c.-2C>T
|
rs202104448
|
0.00010
|
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
|
NM_000051.4(ATM):c.133C>T (p.Arg45Trp)
|
rs3218684
|
0.00009
|
|
NM_000051.4(ATM):c.1911A>G (p.Gln637=)
|
rs764790965
|
0.00009
|
|
NM_000051.4(ATM):c.2778A>G (p.Lys926=)
|
rs372569168
|
0.00009
|
|
NM_000051.4(ATM):c.332-3T>C
|
rs376116157
|
0.00009
|
|
NM_000051.4(ATM):c.4167A>G (p.Thr1389=)
|
rs183214437
|
0.00009
|
|
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)
|
rs2229021
|
0.00009
|
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
0.00009
|
|
NM_000051.4(ATM):c.5583G>A (p.Leu1861=)
|
rs781383087
|
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_000059.4(BRCA2):c.1568A>G (p.His523Arg)
|
rs80358443
|
0.00009
|
|
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=)
|
rs11571654
|
0.00009
|
|
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg)
|
rs80358566
|
0.00009
|
|
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)
|
rs45520945
|
0.00009
|
|
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=)
|
rs41293491
|
0.00009
|
|
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser)
|
rs80358768
|
0.00009
|
|
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser)
|
rs80358874
|
0.00009
|
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
|
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)
|
rs56121817
|
0.00009
|
|
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)
|
rs587778531
|
0.00009
|
|
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)
|
rs63750876
|
0.00009
|
|
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)
|
rs63751107
|
0.00009
|
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
|
NM_000455.5(STK11):c.863-14C>T
|
rs756001994
|
0.00009
|
|
NM_000465.4(BARD1):c.1059C>G (p.Pro353=)
|
rs368649242
|
0.00009
|
|
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu)
|
rs587782333
|
0.00009
|
|
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)
|
rs146946984
|
0.00009
|
|
NM_000465.4(BARD1):c.1904-412A>T
|
rs536758903
|
0.00009
|
|
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu)
|
rs149262370
|
0.00009
|
|
NM_000465.4(BARD1):c.764A>G (p.Asn255Ser)
|
rs138904906
|
0.00009
|
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
|
NM_004360.5(CDH1):c.1888C>G (p.Leu630Val)
|
rs2276331
|
0.00009
|
|
NM_004360.5(CDH1):c.2644G>A (p.Asp882Asn)
|
rs200104963
|
0.00009
|
|
NM_004360.5(CDH1):c.894C>T (p.Ala298=)
|
rs139110184
|
0.00009
|
|
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)
|
rs113613074
|
0.00009
|
|
NM_007194.4(CHEK2):c.*7T>C
|
rs121908710
|
0.00009
|
|
NM_007194.4(CHEK2):c.1095+19G>A
|
rs200020484
|
0.00009
|
|
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His)
|
rs200649225
|
0.00009
|
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
|
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)
|
rs587780189
|
0.00009
|
|
NM_024675.4(PALB2):c.12T>C (p.Pro4=)
|
rs567706422
|
0.00009
|
|
NM_024675.4(PALB2):c.1431C>T (p.Thr477=)
|
rs515726068
|
0.00009
|
|
NM_024675.4(PALB2):c.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.3114-40T>G
|
rs515726105
|
0.00009
|
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
|
NM_024675.4(PALB2):c.344G>T (p.Gly115Val)
|
rs145598272
|
0.00009
|
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
|
NM_032043.3(BRIP1):c.1721C>T (p.Pro574Leu)
|
rs377302300
|
0.00009
|
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
|
NM_032043.3(BRIP1):c.93+15G>A
|
rs113052745
|
0.00009
|
|
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)
|
rs587780256
|
0.00009
|
|
NM_000051.4(ATM):c.1236-2A>T
|
rs80159221
|
0.00008
|
|
NM_000051.4(ATM):c.2466+7A>G
|
rs55812024
|
0.00008
|
|
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln)
|
rs587782298
|
0.00008
|
|
NM_000051.4(ATM):c.4329C>A (p.His1443Gln)
|
rs377065665
|
0.00008
|
|
NM_000051.4(ATM):c.6497T>C (p.Val2166Ala)
|
rs1232551114
|
0.00008
|
|
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)
|
rs200431631
|
0.00008
|
|
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)
|
rs587779867
|
0.00008
|
|
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=)
|
rs118093942
|
0.00008
|
|
NM_000059.4(BRCA2):c.517-4C>G
|
rs81002804
|
0.00008
|
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
|
NM_000136.3(FANCC):c.1533+13G>A
|
rs200515307
|
0.00008
|
|
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)
|
rs146567853
|
0.00008
|
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00008
|
|
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)
|
rs376727038
|
0.00008
|
|
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)
|
rs587781976
|
0.00008
|
|
NM_000465.4(BARD1):c.1985T>G (p.Leu662Arg)
|
rs556775078
|
0.00008
|
|
NM_000465.4(BARD1):c.687T>C (p.Phe229=)
|
rs756803590
|
0.00008
|
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
|
NM_000535.7(PMS2):c.1656T>C (p.His552=)
|
rs113726095
|
0.00008
|
|
NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg)
|
rs201313861
|
0.00008
|
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
|
NM_007194.4(CHEK2):c.1259+8A>G
|
rs368388249
|
0.00008
|
|
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met)
|
rs558321010
|
0.00008
|
|
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)
|
rs562517792
|
0.00008
|
|
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro)
|
rs273900712
|
0.00008
|
|
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)
|
rs80357465
|
0.00008
|
|
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val)
|
rs28897696
|
0.00008
|
|
NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly)
|
rs772684048
|
0.00008
|
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00008
|
|
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)
|
rs730881887
|
0.00008
|
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
rs878855107
|
0.00008
|
|
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr)
|
rs146218439
|
0.00008
|
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
rs587778587
|
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.125A>G (p.His42Arg)
|
rs201773026
|
0.00007
|
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
|
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)
|
rs147515380
|
0.00007
|
|
NM_000051.4(ATM):c.290T>C (p.Ile97Thr)
|
rs786203011
|
0.00007
|
|
NM_000051.4(ATM):c.3793T>C (p.Phe1265Leu)
|
rs371526361
|
0.00007
|
|
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)
|
rs587778075
|
0.00007
|
|
NM_000051.4(ATM):c.496+4T>C
|
rs587781375
|
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_000059.4(BRCA2):c.1167G>A (p.Pro389=)
|
rs148607710
|
0.00007
|
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
|
NM_000059.4(BRCA2):c.9949C>T (p.Leu3317=)
|
rs777488349
|
0.00007
|
|
NM_000249.4(MLH1):c.42A>C (p.Thr14=)
|
rs369737664
|
0.00007
|
|
NM_000251.3(MSH2):c.1560A>G (p.Gly520=)
|
rs63750820
|
0.00007
|
|
NM_000465.4(BARD1):c.1084T>G (p.Cys362Gly)
|
rs141351035
|
0.00007
|
|
NM_000465.4(BARD1):c.946T>G (p.Leu316Val)
|
rs587782325
|
0.00007
|
|
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)
|
rs201141245
|
0.00007
|
|
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)
|
rs376097289
|
0.00007
|
|
NM_004360.5(CDH1):c.854C>T (p.Thr285Ile)
|
rs587781634
|
0.00007
|
|
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val)
|
rs375130261
|
0.00007
|
|
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)
|
rs121908706
|
0.00007
|
|
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu)
|
rs201084748
|
0.00007
|
|
NM_007294.4(BRCA1):c.-19-10T>C
|
rs201866997
|
0.00007
|
|
NM_007294.4(BRCA1):c.3783A>G (p.Leu1261=)
|
rs80356831
|
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.2200A>T (p.Thr734Ser)
|
rs45543843
|
0.00007
|
|
NM_032043.3(BRIP1):c.1629-11T>C
|
rs375710640
|
0.00007
|
|
NM_032043.3(BRIP1):c.2873T>A (p.Leu958Gln)
|
rs145859791
|
0.00007
|
|
NM_032043.3(BRIP1):c.3079G>A (p.Glu1027Lys)
|
rs371185409
|
0.00007
|
|
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=)
|
rs369843642
|
0.00007
|
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
|
NM_000051.4(ATM):c.115A>G (p.Thr39Ala)
|
rs779297339
|
0.00006
|
|
NM_000051.4(ATM):c.1887C>T (p.Ser629=)
|
rs143097772
|
0.00006
|
|
NM_000051.4(ATM):c.198A>G (p.Lys66=)
|
rs540920248
|
0.00006
|
|
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)
|
rs148705269
|
0.00006
|
|
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)
|
rs3218708
|
0.00006
|
|
NM_000051.4(ATM):c.3577-13T>C
|
rs587780856
|
0.00006
|
|
NM_000051.4(ATM):c.3588A>G (p.Lys1196=)
|
rs376524625
|
0.00006
|
|
NM_000051.4(ATM):c.3639T>C (p.His1213=)
|
rs142766756
|
0.00006
|
|
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)
|
rs587782195
|
0.00006
|
|
NM_000051.4(ATM):c.3998A>T (p.Asp1333Val)
|
rs746709782
|
0.00006
|
|
NM_000051.4(ATM):c.4449C>T (p.Ile1483=)
|
rs786203726
|
0.00006
|
|
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile)
|
rs375190373
|
0.00006
|
|
NM_000051.4(ATM):c.5352C>T (p.Asn1784=)
|
rs140641762
|
0.00006
|
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
|
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser)
|
rs587780632
|
0.00006
|
|
NM_000051.4(ATM):c.6443A>G (p.Lys2148Arg)
|
rs730881382
|
0.00006
|
|
NM_000051.4(ATM):c.6486C>T (p.Ser2162=)
|
rs138166710
|
0.00006
|
|
NM_000051.4(ATM):c.7062G>A (p.Ala2354=)
|
rs143489373
|
0.00006
|
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
|
NM_000051.4(ATM):c.7521C>T (p.Asp2507=)
|
rs751234924
|
0.00006
|
|
NM_000051.4(ATM):c.7602C>T (p.Gly2534=)
|
rs562264493
|
0.00006
|
|
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)
|
rs377349459
|
0.00006
|
|
NM_000051.4(ATM):c.8495G>A (p.Arg2832His)
|
rs529296539
|
0.00006
|
|
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)
|
rs139379666
|
0.00006
|
|
NM_000051.4(ATM):c.946T>C (p.Tyr316His)
|
rs142317485
|
0.00006
|
|
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=)
|
rs41293473
|
0.00006
|
|
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=)
|
rs55919657
|
0.00006
|
|
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp)
|
rs80358451
|
0.00006
|
|
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu)
|
rs80358550
|
0.00006
|
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
|
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile)
|
rs79456940
|
0.00006
|
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
|
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)
|
rs28897705
|
0.00006
|
|
NM_000136.3(FANCC):c.1607T>C (p.Leu536Pro)
|
rs587779903
|
0.00006
|
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
|
NM_000179.3(MSH6):c.3282A>T (p.Ser1094=)
|
rs372996269
|
0.00006
|
|
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)
|
rs63751467
|
0.00006
|
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
|
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=)
|
rs56076152
|
0.00006
|
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00006
|
|
NM_000251.3(MSH2):c.944G>T (p.Gly315Val)
|
rs202026056
|
0.00006
|
|
NM_000455.5(STK11):c.125G>T (p.Arg42Leu)
|
rs148830698
|
0.00006
|
|
NM_000465.4(BARD1):c.-114A>G
|
rs778519204
|
0.00006
|
|
NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp)
|
rs371147849
|
0.00006
|
|
NM_000465.4(BARD1):c.119C>T (p.Ala40Val)
|
rs71579841
|
0.00006
|
|
NM_000465.4(BARD1):c.1240A>T (p.Met414Leu)
|
rs759601398
|
0.00006
|
|
NM_000465.4(BARD1):c.127C>A (p.Arg43Ser)
|
rs752871324
|
0.00006
|
|
NM_000465.4(BARD1):c.1479A>C (p.Gln493His)
|
rs375029767
|
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.1734T>A (p.Ser578=)
|
rs373449212
|
0.00006
|
|
NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn)
|
rs376256852
|
0.00006
|
|
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)
|
rs377227840
|
0.00006
|
|
NM_000465.4(BARD1):c.2183C>T (p.Ser728Phe)
|
rs13389423
|
0.00006
|
|
NM_000465.4(BARD1):c.665C>T (p.Ala222Val)
|
rs142086060
|
0.00006
|
|
NM_000465.4(BARD1):c.690C>G (p.Asp230Glu)
|
rs587780034
|
0.00006
|
|
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)
|
rs200359745
|
0.00006
|
|
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)
|
rs3738885
|
0.00006
|
|
NM_000465.4(BARD1):c.907G>C (p.Val303Leu)
|
rs375048835
|
0.00006
|
|
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln)
|
rs368516768
|
0.00006
|
|
NM_000535.7(PMS2):c.477G>A (p.Val159=)
|
rs147701251
|
0.00006
|
|
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)
|
rs587781934
|
0.00006
|
|
NM_001372051.1(CASP8):c.159G>A (p.Met53Ile)
|
rs200261147
|
0.00006
|
|
NM_002485.5(NBN):c.1398-10T>A
|
rs539960851
|
0.00006
|
|
NM_002485.5(NBN):c.819A>T (p.Thr273=)
|
rs147660518
|
0.00006
|
|
NM_002485.5(NBN):c.930T>A (p.Ile310=)
|
rs142813526
|
0.00006
|
|
NM_002878.4(RAD51D):c.629C>T (p.Ala210Val)
|
rs376855484
|
0.00006
|
|
NM_002878.4(RAD51D):c.957G>A (p.Gln319=)
|
rs147669627
|
0.00006
|
|
NM_004360.5(CDH1):c.1241C>A (p.Thr414Asn)
|
rs755571454
|
0.00006
|
|
NM_004360.5(CDH1):c.48+15_48+16del
|
rs730881655
|
0.00006
|
|
NM_004360.5(CDH1):c.846G>A (p.Met282Ile)
|
rs200932258
|
0.00006
|
|
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)
|
rs140566004
|
0.00006
|
|
NM_007194.4(CHEK2):c.1023C>T (p.Asn341=)
|
rs377668478
|
0.00006
|
|
NM_007194.4(CHEK2):c.1260-10C>G
|
rs730881706
|
0.00006
|
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
|
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys)
|
rs138040612
|
0.00006
|
|
NM_007194.4(CHEK2):c.320-16T>C
|
rs773890954
|
0.00006
|
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00006
|
|
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)
|
rs137853010
|
0.00006
|
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
|
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser)
|
rs748636216
|
0.00006
|
|
NM_007194.4(CHEK2):c.847-17T>C
|
rs199780411
|
0.00006
|
|
NM_007194.4(CHEK2):c.937G>A (p.Val313Met)
|
rs752302543
|
0.00006
|
|
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=)
|
rs533802049
|
0.00006
|
|
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe)
|
rs41286294
|
0.00006
|
|
NM_007294.4(BRCA1):c.2522G>A (p.Arg841Gln)
|
rs80357337
|
0.00006
|
|
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys)
|
rs80356923
|
0.00006
|
|
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile)
|
rs80357191
|
0.00006
|
|
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)
|
rs28897691
|
0.00006
|
|
NM_007294.4(BRCA1):c.5278-14C>G
|
rs80358105
|
0.00006
|
|
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly)
|
rs55874646
|
0.00006
|
|
NM_020923.3(ZDBF2):c.5795G>A (p.Arg1932His)
|
rs763186071
|
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.1935G>A (p.Glu645=)
|
rs141707455
|
0.00006
|
|
NM_024675.4(PALB2):c.2506G>C (p.Val836Leu)
|
rs536644825
|
0.00006
|
|
NM_024675.4(PALB2):c.2748+16G>A
|
rs730881873
|
0.00006
|
|
NM_024675.4(PALB2):c.2866G>A (p.Glu956Lys)
|
rs1219715328
|
0.00006
|
|
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=)
|
rs45565738
|
0.00006
|
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
|
NM_024675.4(PALB2):c.48+27G>T
|
rs515726119
|
0.00006
|
|
NM_024675.4(PALB2):c.560C>A (p.Pro187His)
|
rs371582757
|
0.00006
|
|
NM_024675.4(PALB2):c.765T>C (p.Asp255=)
|
rs45465299
|
0.00006
|
|
NM_024675.4(PALB2):c.768C>T (p.Ser256=)
|
rs45487491
|
0.00006
|
|
NM_024675.4(PALB2):c.929G>A (p.Ser310Asn)
|
rs370887726
|
0.00006
|
|
NM_032043.3(BRIP1):c.1053A>G (p.Pro351=)
|
rs544977115
|
0.00006
|
|
NM_032043.3(BRIP1):c.1140+11G>A
|
rs369153270
|
0.00006
|
|
NM_032043.3(BRIP1):c.1176A>G (p.Leu392=)
|
rs550092661
|
0.00006
|
|
NM_032043.3(BRIP1):c.1356C>T (p.Asn452=)
|
rs730881640
|
0.00006
|
|
NM_032043.3(BRIP1):c.1629-3T>C
|
rs587780828
|
0.00006
|
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
|
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu)
|
rs147755155
|
0.00006
|
|
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=)
|
rs374362388
|
0.00006
|
|
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)
|
rs587780235
|
0.00006
|
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
0.00006
|
|
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)
|
rs730881645
|
0.00006
|
|
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser)
|
rs587780251
|
0.00006
|
|
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)
|
rs201047375
|
0.00006
|
|
NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr)
|
rs754242563
|
0.00006
|
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
|
NM_032043.3(BRIP1):c.918+1G>A
|
rs587781655
|
0.00006
|
|
NM_033360.4(KRAS):c.4+5G>A
|
rs201789109
|
0.00006
|
|
NM_058216.3(RAD51C):c.870T>A (p.Ile290=)
|
rs376402418
|
0.00006
|
|
NM_133510.4(RAD51B):c.139C>T (p.Arg47Ter)
|
rs200355697
|
0.00006
|
|
NM_000051.4(ATM):c.2220A>G (p.Ala740=)
|
rs56353517
|
0.00005
|
|
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)
|
rs587782397
|
0.00005
|
|
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)
|
rs55723361
|
0.00005
|
|
NM_000051.4(ATM):c.2919A>G (p.Leu973=)
|
rs587779829
|
0.00005
|
|
NM_000051.4(ATM):c.2967T>C (p.Thr989=)
|
rs144145128
|
0.00005
|
|
NM_000051.4(ATM):c.4109+6T>C
|
rs368606937
|
0.00005
|
|
NM_000051.4(ATM):c.4437-14T>C
|
rs900984301
|
0.00005
|
|
NM_000051.4(ATM):c.4665C>T (p.Leu1555=)
|
rs374431061
|
0.00005
|
|
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00005
|
|
NM_000051.4(ATM):c.6160G>T (p.Ala2054Ser)
|
rs587779853
|
0.00005
|
|
NM_000051.4(ATM):c.6573-16A>G
|
rs764506673
|
0.00005
|
|
NM_000051.4(ATM):c.659C>T (p.Ala220Val)
|
rs145355104
|
0.00005
|
|
NM_000051.4(ATM):c.716T>C (p.Phe239Ser)
|
rs143198946
|
0.00005
|
|
NM_000051.4(ATM):c.7983T>C (p.Asp2661=)
|
rs143972422
|
0.00005
|
|
NM_000051.4(ATM):c.861T>C (p.Ile287=)
|
rs55849405
|
0.00005
|
|
NM_000051.4(ATM):c.9031A>G (p.Met3011Val)
|
rs372795527
|
0.00005
|
|
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=)
|
rs199879914
|
0.00005
|
|
NM_000059.4(BRCA2):c.5985C>T (p.Asn1995=)
|
rs374620036
|
0.00005
|
|
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)
|
rs80358932
|
0.00005
|
|
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn)
|
rs80359051
|
0.00005
|
|
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)
|
rs80359052
|
0.00005
|
|
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His)
|
rs80359105
|
0.00005
|
|
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser)
|
rs398122714
|
0.00005
|
|
NM_000136.3(FANCC):c.1425A>G (p.Thr475=)
|
rs199739450
|
0.00005
|
|
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met)
|
rs267608089
|
0.00005
|
|
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)
|
rs371614039
|
0.00005
|
|
NM_000455.5(STK11):c.666C>T (p.Pro222=)
|
rs542189325
|
0.00005
|
|
NM_000465.4(BARD1):c.-4G>A
|
rs761863671
|
0.00005
|
|
NM_000465.4(BARD1):c.1268A>G (p.Lys423Arg)
|
rs749383704
|
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.2161G>A (p.Ala721Thr)
|
rs554708247
|
0.00005
|
|
NM_000465.4(BARD1):c.499C>T (p.Pro167Ser)
|
rs767584985
|
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_000535.7(PMS2):c.1432A>G (p.Ser478Gly)
|
rs144389038
|
0.00005
|
|
NM_004360.5(CDH1):c.1019C>T (p.Thr340Met)
|
rs61747631
|
0.00005
|
|
NM_004360.5(CDH1):c.1988A>G (p.Tyr663Cys)
|
rs372182377
|
0.00005
|
|
NM_005732.4(RAD50):c.3230G>A (p.Arg1077Gln)
|
rs104895051
|
0.00005
|
|
NM_007194.4(CHEK2):c.1494T>C (p.Leu498=)
|
rs531931623
|
0.00005
|
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
|
NM_007194.4(CHEK2):c.633T>C (p.Val211=)
|
rs1555924460
|
0.00005
|
|
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr)
|
rs80357102
|
0.00005
|
|
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=)
|
rs587780863
|
0.00005
|
|
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)
|
rs80356860
|
0.00005
|
|
NM_007294.4(BRCA1):c.670+16G>A
|
rs199916228
|
0.00005
|
|
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)
|
rs146434474
|
0.00005
|
|
NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg)
|
rs142343372
|
0.00005
|
|
NM_024675.4(PALB2):c.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.3404G>A (p.Gly1135Glu)
|
rs730881894
|
0.00005
|
|
NM_024675.4(PALB2):c.3412G>A (p.Ala1138Thr)
|
rs577651839
|
0.00005
|
|
NM_032043.3(BRIP1):c.1688A>G (p.Asp563Gly)
|
rs577768294
|
0.00005
|
|
NM_032043.3(BRIP1):c.1936-4C>T
|
rs587780552
|
0.00005
|
|
NM_032043.3(BRIP1):c.2863A>C (p.Asn955His)
|
rs587782244
|
0.00005
|
|
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met)
|
rs587781666
|
0.00005
|
|
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)
|
rs764848326
|
0.00005
|
|
NM_000038.6(APC):c.6387G>A (p.Ser2129=)
|
rs374310157
|
0.00004
|
|
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)
|
rs201719927
|
0.00004
|
|
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
|
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)
|
rs587779816
|
0.00004
|
|
NM_000051.4(ATM):c.1608-19G>T
|
rs773158102
|
0.00004
|
|
NM_000051.4(ATM):c.1837G>T (p.Val613Leu)
|
rs200124136
|
0.00004
|
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
|
NM_000051.4(ATM):c.1953A>G (p.Leu651=)
|
rs730881283
|
0.00004
|
|
NM_000051.4(ATM):c.202A>G (p.Ile68Val)
|
rs35389822
|
0.00004
|
|
NM_000051.4(ATM):c.2040C>T (p.Phe680=)
|
rs587780855
|
0.00004
|
|
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)
|
rs780619951
|
0.00004
|
|
NM_000051.4(ATM):c.2418G>T (p.Leu806Phe)
|
rs587781296
|
0.00004
|
|
NM_000051.4(ATM):c.2610C>T (p.Asn870=)
|
rs587780618
|
0.00004
|
|
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile)
|
rs147122522
|
0.00004
|
|
NM_000051.4(ATM):c.2836A>G (p.Met946Val)
|
rs587781992
|
0.00004
|
|
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)
|
rs587781545
|
0.00004
|
|
NM_000051.4(ATM):c.2958T>G (p.Val986=)
|
rs745971584
|
0.00004
|
|
NM_000051.4(ATM):c.3012C>T (p.Ser1004=)
|
rs751260996
|
0.00004
|
|
NM_000051.4(ATM):c.3102T>C (p.Tyr1034=)
|
rs780240314
|
0.00004
|
|
NM_000051.4(ATM):c.3106T>C (p.Phe1036Leu)
|
rs747079458
|
0.00004
|
|
NM_000051.4(ATM):c.3154-5C>T
|
rs55719759
|
0.00004
|
|
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)
|
rs370282831
|
0.00004
|
|
NM_000051.4(ATM):c.3378A>G (p.Lys1126=)
|
rs149182949
|
0.00004
|
|
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met)
|
rs759951393
|
0.00004
|
|
NM_000051.4(ATM):c.3468G>A (p.Thr1156=)
|
rs148358896
|
0.00004
|
|
NM_000051.4(ATM):c.3577-6G>A
|
rs56006345
|
0.00004
|
|
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile)
|
rs576884305
|
0.00004
|
|
NM_000051.4(ATM):c.3777G>A (p.Leu1259=)
|
rs780192529
|
0.00004
|
|
NM_000051.4(ATM):c.3994-7C>T
|
rs769346400
|
0.00004
|
|
NM_000051.4(ATM):c.4146A>G (p.Pro1382=)
|
rs147738621
|
0.00004
|
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
|
NM_000051.4(ATM):c.4466G>A (p.Arg1489His)
|
rs201594549
|
0.00004
|
|
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter)
|
rs1131691164
|
0.00004
|
|
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)
|
rs587779841
|
0.00004
|
|
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met)
|
rs587781712
|
0.00004
|
|
NM_000051.4(ATM):c.4777-13T>A
|
rs371535082
|
0.00004
|
|
NM_000051.4(ATM):c.510G>A (p.Val170=)
|
rs375682557
|
0.00004
|
|
NM_000051.4(ATM):c.5278A>G (p.Met1760Val)
|
rs151327241
|
0.00004
|
|
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter)
|
rs376603775
|
0.00004
|
|
NM_000051.4(ATM):c.5763-1050A>G
|
rs774925473
|
0.00004
|
|
NM_000051.4(ATM):c.5868C>T (p.Leu1956=)
|
rs540054724
|
0.00004
|
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
|
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)
|
rs3218670
|
0.00004
|
|
NM_000051.4(ATM):c.6114C>T (p.His2038=)
|
rs774993357
|
0.00004
|
|
NM_000051.4(ATM):c.6179G>C (p.Arg2060Pro)
|
rs376521407
|
0.00004
|
|
NM_000051.4(ATM):c.6333T>C (p.His2111=)
|
rs55756349
|
0.00004
|
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
|
NM_000051.4(ATM):c.7779G>A (p.Gln2593=)
|
rs770321620
|
0.00004
|
|
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)
|
rs376824528
|
0.00004
|
|
NM_000051.4(ATM):c.7890A>G (p.Leu2630=)
|
rs756181210
|
0.00004
|
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
|
NM_000051.4(ATM):c.8391T>C (p.Ser2797=)
|
rs566485657
|
0.00004
|
|
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)
|
rs730881325
|
0.00004
|
|
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)
|
rs141534716
|
0.00004
|
|
NM_000051.4(ATM):c.8629T>C (p.Leu2877=)
|
rs730881279
|
0.00004
|
|
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
|
NM_000051.4(ATM):c.9149C>T (p.Pro3050Leu)
|
rs778267979
|
0.00004
|
|
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)
|
rs398122731
|
0.00004
|
|
NM_000059.4(BRCA2):c.316+13A>G
|
rs773097109
|
0.00004
|
|
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys)
|
rs375125172
|
0.00004
|
|
NM_000059.4(BRCA2):c.476-3C>A
|
rs371431745
|
0.00004
|
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
|
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)
|
rs80359505
|
0.00004
|
|
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=)
|
rs376257217
|
0.00004
|
|
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys)
|
rs80358842
|
0.00004
|
|
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)
|
rs397507367
|
0.00004
|
|
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly)
|
rs80358896
|
0.00004
|
|
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)
|
rs80358927
|
0.00004
|
|
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)
|
rs397507382
|
0.00004
|
|
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
|
rs80358978
|
0.00004
|
|
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu)
|
rs55763607
|
0.00004
|
|
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp)
|
rs80359129
|
0.00004
|
|
NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly)
|
rs28897753
|
0.00004
|
|
NM_000059.4(BRCA2):c.9247A>G (p.Lys3083Glu)
|
rs80359190
|
0.00004
|
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
|
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu)
|
rs80359228
|
0.00004
|
|
NM_000059.4(BRCA2):c.9648+10T>G
|
rs81002835
|
0.00004
|
|
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys)
|
rs80359237
|
0.00004
|
|
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)
|
rs200938360
|
0.00004
|
|
NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg)
|
rs201096652
|
0.00004
|
|
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
|
rs63751450
|
0.00004
|
|
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg)
|
rs749660228
|
0.00004
|
|
NM_000251.3(MSH2):c.2516A>G (p.His839Arg)
|
rs63750027
|
0.00004
|
|
NM_000455.5(STK11):c.355A>G (p.Asn119Asp)
|
rs545015076
|
0.00004
|
|
NM_000455.5(STK11):c.374+11C>T
|
rs368923696
|
0.00004
|
|
NM_000465.4(BARD1):c.*38C>T
|
rs751500588
|
0.00004
|
|
NM_000465.4(BARD1):c.1294C>T (p.Leu432Phe)
|
rs185164724
|
0.00004
|
|
NM_000465.4(BARD1):c.1406G>A (p.Cys469Tyr)
|
rs587782040
|
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.1646A>G (p.Asn549Ser)
|
rs755346126
|
0.00004
|
|
NM_000465.4(BARD1):c.1678-18C>G
|
rs376045331
|
0.00004
|
|
NM_000465.4(BARD1):c.1788A>G (p.Lys596=)
|
rs777084777
|
0.00004
|
|
NM_000465.4(BARD1):c.1877A>G (p.Asn626Ser)
|
rs587781443
|
0.00004
|
|
NM_000465.4(BARD1):c.1904-3C>G
|
rs876660360
|
0.00004
|
|
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)
|
rs587781948
|
0.00004
|
|
NM_000465.4(BARD1):c.2172G>T (p.Ala724=)
|
rs143331809
|
0.00004
|
|
NM_000465.4(BARD1):c.2280G>A (p.Ser760=)
|
rs749959440
|
0.00004
|
|
NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr)
|
rs587780030
|
0.00004
|
|
NM_000465.4(BARD1):c.233G>A (p.Cys78Tyr)
|
rs199780731
|
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.61C>G (p.Arg21Gly)
|
rs864622206
|
0.00004
|
|
NM_000465.4(BARD1):c.644A>G (p.Asn215Ser)
|
rs774929973
|
0.00004
|
|
NM_000465.4(BARD1):c.692C>T (p.Ser231Phe)
|
rs758140052
|
0.00004
|
|
NM_000465.4(BARD1):c.737C>A (p.Pro246Gln)
|
rs151325889
|
0.00004
|
|
NM_000465.4(BARD1):c.76A>G (p.Met26Val)
|
rs587781570
|
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_000535.7(PMS2):c.1197G>A (p.Lys399=)
|
rs757730609
|
0.00004
|
|
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)
|
rs745361721
|
0.00004
|
|
NM_000535.7(PMS2):c.2049C>T (p.Asn683=)
|
rs752950007
|
0.00004
|
|
NM_000535.7(PMS2):c.2334C>T (p.Phe778=)
|
rs768674294
|
0.00004
|
|
NM_000535.7(PMS2):c.831G>A (p.Thr277=)
|
rs116481522
|
0.00004
|
|
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala)
|
rs17881470
|
0.00004
|
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
|
NM_001161630.1(KDM4E):c.1493A>G (p.Asn498Ser)
|
rs869025228
|
0.00004
|
|
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)
|
rs12721593
|
0.00004
|
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
|
NM_003001.5(SDHC):c.490A>T (p.Met164Leu)
|
rs200375156
|
0.00004
|
|
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter)
|
rs779070661
|
0.00004
|
|
NM_004360.5(CDH1):c.1244T>C (p.Ile415Thr)
|
rs587782372
|
0.00004
|
|
NM_004360.5(CDH1):c.1793G>A (p.Arg598Gln)
|
rs780759537
|
0.00004
|
|
NM_004360.5(CDH1):c.213C>T (p.Leu71=)
|
rs376667778
|
0.00004
|
|
NM_004360.5(CDH1):c.2246G>A (p.Arg749Gln)
|
rs530717933
|
0.00004
|
|
NM_004360.5(CDH1):c.2249A>G (p.Asp750Gly)
|
rs759608783
|
0.00004
|
|
NM_004360.5(CDH1):c.2336G>A (p.Arg779Gln)
|
rs587781311
|
0.00004
|
|
NM_004360.5(CDH1):c.2450C>T (p.Ala817Val)
|
rs587782024
|
0.00004
|
|
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)
|
rs587781312
|
0.00004
|
|
NM_004360.5(CDH1):c.377C>T (p.Pro126Leu)
|
rs746703615
|
0.00004
|
|
NM_004360.5(CDH1):c.780C>T (p.Pro260=)
|
rs765090311
|
0.00004
|
|
NM_004360.5(CDH1):c.84C>T (p.Cys28=)
|
rs587780789
|
0.00004
|
|
NM_004655.4(AXIN2):c.2083G>T (p.Ala695Ser)
|
rs140510381
|
0.00004
|
|
NM_004985.5(KRAS):c.451-5652C>T
|
rs727505314
|
0.00004
|
|
NM_005732.4(RAD50):c.1932G>A (p.Arg644=)
|
rs375978877
|
0.00004
|
|
NM_005732.4(RAD50):c.3420G>A (p.Met1140Ile)
|
rs748377319
|
0.00004
|
|
NM_006231.4(POLE):c.5653G>A (p.Ala1885Thr)
|
rs748008084
|
0.00004
|
|
NM_007194.4(CHEK2):c.1008+8A>G
|
rs139986197
|
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.1368dup (p.Glu457fs)
|
rs730881700
|
0.00004
|
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
|
NM_007194.4(CHEK2):c.1470C>A (p.Asp490Glu)
|
rs587780178
|
0.00004
|
|
NM_007194.4(CHEK2):c.150C>T (p.Ser50=)
|
rs967317594
|
0.00004
|
|
NM_007194.4(CHEK2):c.1543-20C>G
|
rs551645416
|
0.00004
|
|
NM_007194.4(CHEK2):c.15G>A (p.Ser5=)
|
rs145183886
|
0.00004
|
|
NM_007194.4(CHEK2):c.164C>T (p.Ser55Phe)
|
rs765799649
|
0.00004
|
|
NM_007194.4(CHEK2):c.400G>C (p.Asp134His)
|
rs372874441
|
0.00004
|
|
NM_007194.4(CHEK2):c.593-55G>A
|
rs17879915
|
0.00004
|
|
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)
|
rs141776984
|
0.00004
|
|
NM_007194.4(CHEK2):c.847-10C>G
|
rs745745105
|
0.00004
|
|
NM_007194.4(CHEK2):c.908+19A>T
|
rs759973493
|
0.00004
|
|
NM_007194.4(CHEK2):c.910A>G (p.Met304Val)
|
rs769436449
|
0.00004
|
|
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala)
|
rs374395284
|
0.00004
|
|
NM_007294.4(BRCA1):c.-19-3A>G
|
rs273898669
|
0.00004
|
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
|
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)
|
rs273898682
|
0.00004
|
|
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu)
|
rs55914168
|
0.00004
|
|
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val)
|
rs80356874
|
0.00004
|
|
NM_007294.4(BRCA1):c.2979A>G (p.Lys993=)
|
rs772854836
|
0.00004
|
|
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)
|
rs80357175
|
0.00004
|
|
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)
|
rs397509100
|
0.00004
|
|
NM_007294.4(BRCA1):c.425C>A (p.Pro142His)
|
rs55971303
|
0.00004
|
|
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys)
|
rs80356991
|
0.00004
|
|
NM_007294.4(BRCA1):c.4357+17A>G
|
rs80358180
|
0.00004
|
|
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)
|
rs397507233
|
0.00004
|
|
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln)
|
rs80357442
|
0.00004
|
|
NM_007294.4(BRCA1):c.570C>T (p.Thr190=)
|
rs201536070
|
0.00004
|
|
NM_007294.4(BRCA1):c.75C>T (p.Pro25=)
|
rs80356839
|
0.00004
|
|
NM_007294.4(BRCA1):c.81-11del
|
rs273902788
|
0.00004
|
|
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys)
|
rs373483056
|
0.00004
|
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
rs537258442
|
0.00004
|
|
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)
|
rs377085677
|
0.00004
|
|
NM_024675.4(PALB2):c.1637T>C (p.Val546Ala)
|
rs148647206
|
0.00004
|
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
rs370422990
|
0.00004
|
|
NM_024675.4(PALB2):c.1753G>A (p.Asp585Asn)
|
rs878855102
|
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.2557G>A (p.Gly853Ser)
|
rs587782579
|
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.2834+13C>A
|
rs551516577
|
0.00004
|
|
NM_024675.4(PALB2):c.3114-42G>T
|
rs515726106
|
0.00004
|
|
NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys)
|
rs747785029
|
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.668T>C (p.Ile223Thr)
|
rs150517167
|
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.-22C>A
|
rs377620948
|
0.00004
|
|
NM_032043.3(BRIP1):c.1000G>A (p.Ala334Thr)
|
rs535414791
|
0.00004
|
|
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
|
NM_032043.3(BRIP1):c.1090A>T (p.Ile364Phe)
|
rs770306753
|
0.00004
|
|
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp)
|
rs369631413
|
0.00004
|
|
NM_032043.3(BRIP1):c.1220G>A (p.Ser407Asn)
|
rs759835916
|
0.00004
|
|
NM_032043.3(BRIP1):c.1443T>C (p.Gly481=)
|
rs775431508
|
0.00004
|
|
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=)
|
rs373709958
|
0.00004
|
|
NM_032043.3(BRIP1):c.1655T>C (p.Ile552Thr)
|
rs369340666
|
0.00004
|
|
NM_032043.3(BRIP1):c.1695A>C (p.Ser565=)
|
rs142572387
|
0.00004
|
|
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile)
|
rs777741543
|
0.00004
|
|
NM_032043.3(BRIP1):c.1935+7T>C
|
rs201024366
|
0.00004
|
|
NM_032043.3(BRIP1):c.2097+20T>G
|
rs771066665
|
0.00004
|
|
NM_032043.3(BRIP1):c.2189G>A (p.Gly730Glu)
|
rs748616469
|
0.00004
|
|
NM_032043.3(BRIP1):c.2193A>G (p.Glu731=)
|
rs781712098
|
0.00004
|
|
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys)
|
rs146031731
|
0.00004
|
|
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp)
|
rs578022079
|
0.00004
|
|
NM_032043.3(BRIP1):c.297C>T (p.Asp99=)
|
rs201617644
|
0.00004
|
|
NM_032043.3(BRIP1):c.3051G>A (p.Pro1017=)
|
rs776990704
|
0.00004
|
|
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His)
|
rs367816363
|
0.00004
|
|
NM_032043.3(BRIP1):c.3224C>T (p.Ser1075Leu)
|
rs183928474
|
0.00004
|
|
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala)
|
rs372799558
|
0.00004
|
|
NM_032043.3(BRIP1):c.380A>G (p.Asp127Gly)
|
rs1170174893
|
0.00004
|
|
NM_032043.3(BRIP1):c.400C>A (p.Leu134Met)
|
rs876658195
|
0.00004
|
|
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala)
|
rs202072866
|
0.00004
|
|
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe)
|
rs533184563
|
0.00004
|
|
NM_032043.3(BRIP1):c.69G>A (p.Pro23=)
|
rs45458996
|
0.00004
|
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
|
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=)
|
rs201000407
|
0.00004
|
|
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)
|
rs200293302
|
0.00004
|
|
NM_000051.4(ATM):c.1332C>A (p.Pro444=)
|
rs763361384
|
0.00003
|
|
NM_000051.4(ATM):c.1368A>G (p.Leu456=)
|
rs750579940
|
0.00003
|
|
NM_000051.4(ATM):c.1421G>A (p.Ser474Asn)
|
rs876659240
|
0.00003
|
|
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe)
|
rs370240037
|
0.00003
|
|
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)
|
rs377597949
|
0.00003
|
|
NM_000051.4(ATM):c.1556T>C (p.Val519Ala)
|
rs574458765
|
0.00003
|
|
NM_000051.4(ATM):c.1608-3T>C
|
rs774196176
|
0.00003
|
|
NM_000051.4(ATM):c.1661C>T (p.Thr554Met)
|
rs1060501694
|
0.00003
|
|
NM_000051.4(ATM):c.1905C>T (p.His635=)
|
rs1020808836
|
0.00003
|
|
NM_000051.4(ATM):c.1943T>C (p.Val648Ala)
|
rs141175037
|
0.00003
|
|
NM_000051.4(ATM):c.2013A>T (p.Ile671=)
|
rs1371341017
|
0.00003
|
|
NM_000051.4(ATM):c.2150G>C (p.Arg717Pro)
|
rs768874297
|
0.00003
|
|
NM_000051.4(ATM):c.2151G>C (p.Arg717=)
|
rs1331738032
|
0.00003
|
|
NM_000051.4(ATM):c.2180G>T (p.Gly727Val)
|
rs1446080226
|
0.00003
|
|
NM_000051.4(ATM):c.2187C>T (p.Tyr729=)
|
rs373430058
|
0.00003
|
|
NM_000051.4(ATM):c.2192A>T (p.Tyr731Phe)
|
rs730881345
|
0.00003
|
|
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys)
|
rs878853492
|
0.00003
|
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
|
NM_000051.4(ATM):c.2354G>A (p.Arg785His)
|
rs587782128
|
0.00003
|
|
NM_000051.4(ATM):c.2396C>T (p.Ala799Val)
|
rs199954262
|
0.00003
|
|
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln)
|
rs587782255
|
0.00003
|
|
NM_000051.4(ATM):c.2449G>C (p.Asp817His)
|
rs587778067
|
0.00003
|
|
NM_000051.4(ATM):c.2498G>C (p.Gly833Ala)
|
rs552010421
|
0.00003
|
|
NM_000051.4(ATM):c.2519A>T (p.Asp840Val)
|
rs786202605
|
0.00003
|
|
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter)
|
rs758081262
|
0.00003
|
|
NM_000051.4(ATM):c.2561C>A (p.Ser854Tyr)
|
rs778123895
|
0.00003
|
|
NM_000051.4(ATM):c.2579A>G (p.Asp860Gly)
|
rs761251711
|
0.00003
|
|
NM_000051.4(ATM):c.2603A>G (p.Asp868Gly)
|
rs750322758
|
0.00003
|
|
NM_000051.4(ATM):c.2638+9A>G
|
rs761592414
|
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.2751C>T (p.Ser917=)
|
rs876659611
|
0.00003
|
|
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00003
|
|
NM_000051.4(ATM):c.2838+9C>G
|
rs370160823
|
0.00003
|
|
NM_000051.4(ATM):c.2942G>A (p.Arg981His)
|
rs755896387
|
0.00003
|
|
NM_000051.4(ATM):c.3237T>C (p.Ala1079=)
|
rs564238520
|
0.00003
|
|
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)
|
rs368111672
|
0.00003
|
|
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)
|
rs372966951
|
0.00003
|
|
NM_000051.4(ATM):c.3300G>A (p.Thr1100=)
|
rs587780621
|
0.00003
|
|
NM_000051.4(ATM):c.3354A>G (p.Thr1118=)
|
rs377316982
|
0.00003
|
|
NM_000051.4(ATM):c.3373T>C (p.Leu1125=)
|
rs775277598
|
0.00003
|
|
NM_000051.4(ATM):c.3402+10A>C
|
rs919002854
|
0.00003
|
|
NM_000051.4(ATM):c.3544G>C (p.Glu1182Gln)
|
rs377349886
|
0.00003
|
|
NM_000051.4(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe)
|
rs786203389
|
0.00003
|
|
NM_000051.4(ATM):c.379A>T (p.Thr127Ser)
|
rs587781741
|
0.00003
|
|
NM_000051.4(ATM):c.4008C>T (p.Phe1336=)
|
rs748055132
|
0.00003
|
|
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr)
|
rs769980220
|
0.00003
|
|
NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly)
|
rs730881369
|
0.00003
|
|
NM_000051.4(ATM):c.4437-7A>G
|
rs370354306
|
0.00003
|
|
NM_000051.4(ATM):c.4505G>T (p.Cys1502Phe)
|
rs759340881
|
0.00003
|
|
NM_000051.4(ATM):c.4674G>A (p.Thr1558=)
|
rs876658474
|
0.00003
|
|
NM_000051.4(ATM):c.4702C>T (p.His1568Tyr)
|
rs753269143
|
0.00003
|
|
NM_000051.4(ATM):c.4731T>C (p.Thr1577=)
|
rs145236132
|
0.00003
|
|
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr)
|
rs786201215
|
0.00003
|
|
NM_000051.4(ATM):c.5005+7T>C
|
rs527286038
|
0.00003
|
|
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln)
|
rs373789346
|
0.00003
|
|
NM_000051.4(ATM):c.538C>T (p.Gln180Ter)
|
rs730881333
|
0.00003
|
|
NM_000051.4(ATM):c.5550A>G (p.Leu1850=)
|
rs35850088
|
0.00003
|
|
NM_000051.4(ATM):c.5653A>T (p.Thr1885Ser)
|
rs587779850
|
0.00003
|
|
NM_000051.4(ATM):c.590G>A (p.Gly197Glu)
|
rs753806542
|
0.00003
|
|
NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly)
|
rs786202089
|
0.00003
|
|
NM_000051.4(ATM):c.6199-3T>C
|
rs1318760213
|
0.00003
|
|
NM_000051.4(ATM):c.6219C>T (p.Leu2073=)
|
rs752478345
|
0.00003
|
|
NM_000051.4(ATM):c.6234C>T (p.Ser2078=)
|
rs569483748
|
0.00003
|
|
NM_000051.4(ATM):c.6465G>A (p.Val2155=)
|
rs140423883
|
0.00003
|
|
NM_000051.4(ATM):c.649A>G (p.Ile217Val)
|
rs547045780
|
0.00003
|
|
NM_000051.4(ATM):c.6526T>C (p.Leu2176=)
|
rs143715818
|
0.00003
|
|
NM_000051.4(ATM):c.6554T>C (p.Ile2185Thr)
|
rs779611511
|
0.00003
|
|
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp)
|
rs730881311
|
0.00003
|
|
NM_000051.4(ATM):c.6636C>T (p.Leu2212=)
|
rs876659563
|
0.00003
|
|
NM_000051.4(ATM):c.6678A>G (p.Leu2226=)
|
rs772173373
|
0.00003
|
|
NM_000051.4(ATM):c.668A>G (p.Glu223Gly)
|
rs776227830
|
0.00003
|
|
NM_000051.4(ATM):c.6888A>T (p.Ala2296=)
|
rs200735689
|
0.00003
|
|
NM_000051.4(ATM):c.7191A>G (p.Gln2397=)
|
rs768906734
|
0.00003
|
|
NM_000051.4(ATM):c.7213A>G (p.Met2405Val)
|
rs587781323
|
0.00003
|
|
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys)
|
rs730881383
|
0.00003
|
|
NM_000051.4(ATM):c.7431A>T (p.Gly2477=)
|
rs1158876832
|
0.00003
|
|
NM_000051.4(ATM):c.7927+10T>C
|
rs730881277
|
0.00003
|
|
NM_000051.4(ATM):c.7989T>C (p.Val2663=)
|
rs774232968
|
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.8152-6C>T
|
rs200389039
|
0.00003
|
|
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile)
|
rs779145081
|
0.00003
|
|
NM_000051.4(ATM):c.8248T>C (p.Leu2750=)
|
rs876658559
|
0.00003
|
|
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)
|
rs730881294
|
0.00003
|
|
NM_000051.4(ATM):c.8419-16_8419-13del
|
rs774275044
|
0.00003
|
|
NM_000051.4(ATM):c.8546G>A (p.Arg2849Gln)
|
rs587782202
|
0.00003
|
|
NM_000051.4(ATM):c.8596C>G (p.Leu2866Val)
|
rs368666328
|
0.00003
|
|
NM_000051.4(ATM):c.8851-19A>G
|
rs772496794
|
0.00003
|
|
NM_000051.4(ATM):c.8964C>T (p.Asp2988=)
|
rs969795398
|
0.00003
|
|
NM_000051.4(ATM):c.9006C>T (p.Phe3002=)
|
rs540172506
|
0.00003
|
|
NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)
|
rs587782137
|
0.00003
|
|
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro)
|
rs80358457
|
0.00003
|
|
NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg)
|
rs587780646
|
0.00003
|
|
NM_000059.4(BRCA2):c.1917G>A (p.Leu639=)
|
rs779226644
|
0.00003
|
|
NM_000059.4(BRCA2):c.235A>G (p.Ile79Val)
|
rs80358502
|
0.00003
|
|
NM_000059.4(BRCA2):c.3068A>C (p.Asn1023Thr)
|
rs776196396
|
0.00003
|
|
NM_000059.4(BRCA2):c.316+12A>G
|
rs186419778
|
0.00003
|
|
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)
|
rs80358568
|
0.00003
|
|
NM_000059.4(BRCA2):c.3462C>T (p.Thr1154=)
|
rs4986856
|
0.00003
|
|
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs)
|
rs80359395
|
0.00003
|
|
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)
|
rs28897723
|
0.00003
|
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
|
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser)
|
rs80358698
|
0.00003
|
|
NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr)
|
rs138489917
|
0.00003
|
|
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys)
|
rs80358784
|
0.00003
|
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
|
NM_000059.4(BRCA2):c.6293C>T (p.Ser2098Phe)
|
rs80358867
|
0.00003
|
|
NM_000059.4(BRCA2):c.663T>G (p.Phe221Leu)
|
rs80358891
|
0.00003
|
|
NM_000059.4(BRCA2):c.6847C>G (p.Pro2283Ala)
|
rs80358909
|
0.00003
|
|
NM_000059.4(BRCA2):c.6929C>A (p.Thr2310Asn)
|
rs276174886
|
0.00003
|
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00003
|
|
NM_000059.4(BRCA2):c.7270A>G (p.Arg2424Gly)
|
rs786202621
|
0.00003
|
|
NM_000059.4(BRCA2):c.7436-14T>G
|
rs81002814
|
0.00003
|
|
NM_000059.4(BRCA2):c.7682A>G (p.Gln2561Arg)
|
rs55647716
|
0.00003
|
|
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro)
|
rs80359066
|
0.00003
|
|
NM_000059.4(BRCA2):c.8421G>A (p.Ser2807=)
|
rs371278843
|
0.00003
|
|
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val)
|
rs80359162
|
0.00003
|
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
|
NM_000059.4(BRCA2):c.9820T>G (p.Leu3274Val)
|
rs80359244
|
0.00003
|
|
NM_000179.3(MSH6):c.-6G>C
|
rs730881822
|
0.00003
|
|
NM_000179.3(MSH6):c.3026A>T (p.Lys1009Ile)
|
rs587781593
|
0.00003
|
|
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)
|
rs56170584
|
0.00003
|
|
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr)
|
rs373226409
|
0.00003
|
|
NM_000251.3(MSH2):c.2517T>A (p.His839Gln)
|
rs267608016
|
0.00003
|
|
NM_000251.3(MSH2):c.399C>T (p.Asp133=)
|
rs61756462
|
0.00003
|
|
NM_000251.3(MSH2):c.409G>C (p.Gly137Arg)
|
rs587781795
|
0.00003
|
|
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu)
|
rs764972504
|
0.00003
|
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
|
NM_000455.5(STK11):c.1035C>T (p.His345=)
|
rs751619208
|
0.00003
|
|
NM_000455.5(STK11):c.1193C>T (p.Ala398Val)
|
rs768058962
|
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.1111A>T (p.Lys371Ter)
|
rs1364256214
|
0.00003
|
|
NM_000465.4(BARD1):c.1148T>A (p.Met383Lys)
|
rs763596413
|
0.00003
|
|
NM_000465.4(BARD1):c.1163T>C (p.Ile388Thr)
|
rs748322604
|
0.00003
|
|
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter)
|
rs377153250
|
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.1622C>T (p.Ser541Leu)
|
rs777937955
|
0.00003
|
|
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)
|
rs587780021
|
0.00003
|
|
NM_000465.4(BARD1):c.1724G>A (p.Ser575Asn)
|
rs774352844
|
0.00003
|
|
NM_000465.4(BARD1):c.1735T>G (p.Ser579Ala)
|
rs1553615143
|
0.00003
|
|
NM_000465.4(BARD1):c.1904-10T>C
|
rs768259863
|
0.00003
|
|
NM_000465.4(BARD1):c.1904-5G>A
|
rs376639978
|
0.00003
|
|
NM_000465.4(BARD1):c.1904-629C>T
|
rs1266026461
|
0.00003
|
|
NM_000465.4(BARD1):c.1915T>C (p.Cys639Arg)
|
rs587781376
|
0.00003
|
|
NM_000465.4(BARD1):c.1952A>G (p.Tyr651Cys)
|
rs1372548495
|
0.00003
|
|
NM_000465.4(BARD1):c.212G>T (p.Cys71Phe)
|
rs1064793959
|
0.00003
|
|
NM_000465.4(BARD1):c.2137G>A (p.Val713Met)
|
rs546077003
|
0.00003
|
|
NM_000465.4(BARD1):c.2160C>G (p.Val720=)
|
rs137888190
|
0.00003
|
|
NM_000465.4(BARD1):c.2171C>T (p.Ala724Val)
|
rs587782662
|
0.00003
|
|
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter)
|
rs879253880
|
0.00003
|
|
NM_000465.4(BARD1):c.2252G>A (p.Arg751Gln)
|
rs587782246
|
0.00003
|
|
NM_000465.4(BARD1):c.266C>T (p.Pro89Leu)
|
rs780241203
|
0.00003
|
|
NM_000465.4(BARD1):c.281A>C (p.Asp94Ala)
|
rs757569689
|
0.00003
|
|
NM_000465.4(BARD1):c.44G>A (p.Arg15His)
|
rs545107676
|
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_000465.4(BARD1):c.77T>G (p.Met26Arg)
|
rs759957629
|
0.00003
|
|
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)
|
rs587780045
|
0.00003
|
|
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)
|
rs114185660
|
0.00003
|
|
NM_000546.6(TP53):c.329G>A (p.Arg110His)
|
rs11540654
|
0.00003
|
|
NM_000546.6(TP53):c.459C>T (p.Pro153=)
|
rs72661116
|
0.00003
|
|
NM_000546.6(TP53):c.467G>A (p.Arg156His)
|
rs371524413
|
0.00003
|
|
NM_000546.6(TP53):c.903A>G (p.Pro301=)
|
rs72661120
|
0.00003
|
|
NM_001113378.2(FANCI):c.3812C>T (p.Ser1271Phe)
|
rs202066338
|
0.00003
|
|
NM_002485.5(NBN):c.139G>A (p.Val47Met)
|
rs876658446
|
0.00003
|
|
NM_002485.5(NBN):c.702+9G>A
|
rs748373099
|
0.00003
|
|
NM_002485.5(NBN):c.896+13T>G
|
rs376695206
|
0.00003
|
|
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)
|
rs387906843
|
0.00003
|
|
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg)
|
rs587778176
|
0.00003
|
|
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)
|
rs36087757
|
0.00003
|
|
NM_004360.5(CDH1):c.1477G>C (p.Val493Leu)
|
rs730881666
|
0.00003
|
|
NM_004360.5(CDH1):c.1684A>T (p.Thr562Ser)
|
rs587782061
|
0.00003
|
|
NM_004360.5(CDH1):c.2017C>A (p.Gln673Lys)
|
rs587781701
|
0.00003
|
|
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr)
|
rs368492235
|
0.00003
|
|
NM_004360.5(CDH1):c.61C>G (p.Leu21Val)
|
rs863224729
|
0.00003
|
|
NM_005359.6(SMAD4):c.1215C>T (p.His405=)
|
rs751732234
|
0.00003
|
|
NM_007194.4(CHEK2):c.1022A>C (p.Asn341Thr)
|
rs773846607
|
0.00003
|
|
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly)
|
rs560973106
|
0.00003
|
|
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)
|
rs587780167
|
0.00003
|
|
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)
|
rs587780171
|
0.00003
|
|
NM_007194.4(CHEK2):c.1259+14T>A
|
rs780245762
|
0.00003
|
|
NM_007194.4(CHEK2):c.1323C>T (p.Thr441=)
|
rs753839004
|
0.00003
|
|
NM_007194.4(CHEK2):c.1351G>A (p.Val451Ile)
|
rs548796284
|
0.00003
|
|
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro)
|
rs587781960
|
0.00003
|
|
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu)
|
rs587782541
|
0.00003
|
|
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp)
|
rs533475838
|
0.00003
|
|
NM_007194.4(CHEK2):c.1563G>A (p.Arg521=)
|
rs761278013
|
0.00003
|
|
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys)
|
rs149501505
|
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.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
|
NM_007194.4(CHEK2):c.444+20G>T
|
rs755989738
|
0.00003
|
|
NM_007194.4(CHEK2):c.593-15T>C
|
rs757717459
|
0.00003
|
|
NM_007194.4(CHEK2):c.651A>G (p.Arg217=)
|
rs774245273
|
0.00003
|
|
NM_007194.4(CHEK2):c.6T>C (p.Ser2=)
|
rs768632104
|
0.00003
|
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
|
NM_007194.4(CHEK2):c.909-18C>T
|
rs1009670975
|
0.00003
|
|
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)
|
rs587780192
|
0.00003
|
|
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys)
|
rs148053495
|
0.00003
|
|
NM_007194.4(CHEK2):c.953G>A (p.Arg318His)
|
rs143611747
|
0.00003
|
|
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile)
|
rs80357273
|
0.00003
|
|
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile)
|
rs80357127
|
0.00003
|
|
NM_007294.4(BRCA1):c.3063T>C (p.Ser1021=)
|
rs1364539273
|
0.00003
|
|
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys)
|
rs80357413
|
0.00003
|
|
NM_007294.4(BRCA1):c.398G>A (p.Arg133His)
|
rs80357357
|
0.00003
|
|
NM_007294.4(BRCA1):c.4748G>A (p.Arg1583Lys)
|
rs752624544
|
0.00003
|
|
NM_007294.4(BRCA1):c.4987-33C>T
|
rs367645566
|
0.00003
|
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
|
NM_007294.4(BRCA1):c.5333-8C>T
|
rs80358084
|
0.00003
|
|
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu)
|
rs80357012
|
0.00003
|
|
NM_007294.4(BRCA1):c.594-2A>C
|
rs80358033
|
0.00003
|
|
NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs)
|
rs80357914
|
0.00003
|
|
NM_007294.4(BRCA1):c.81-6T>C
|
rs80358179
|
0.00003
|
|
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)
|
rs80357244
|
0.00003
|
|
NM_018023.5(YEATS2):c.3131C>T (p.Pro1044Leu)
|
rs376025260
|
0.00003
|
|
NM_024675.4(PALB2):c.108+12G>A
|
rs558824045
|
0.00003
|
|
NM_024675.4(PALB2):c.109C>G (p.Arg37Gly)
|
rs200048921
|
0.00003
|
|
NM_024675.4(PALB2):c.110G>A (p.Arg37His)
|
rs202194596
|
0.00003
|
|
NM_024675.4(PALB2):c.1128T>G (p.Ser376Arg)
|
rs587780204
|
0.00003
|
|
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser)
|
rs367578415
|
0.00003
|
|
NM_024675.4(PALB2):c.1272C>T (p.Ala424=)
|
rs754720030
|
0.00003
|
|
NM_024675.4(PALB2):c.1405T>C (p.Cys469Arg)
|
rs1060502789
|
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.1766C>T (p.Thr589Met)
|
rs773340677
|
0.00003
|
|
NM_024675.4(PALB2):c.1833C>A (p.Asp611Glu)
|
rs779184831
|
0.00003
|
|
NM_024675.4(PALB2):c.1846G>C (p.Asp616His)
|
rs786201907
|
0.00003
|
|
NM_024675.4(PALB2):c.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.2057G>A (p.Arg686Lys)
|
rs267604470
|
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.226A>G (p.Ile76Val)
|
rs541028076
|
0.00003
|
|
NM_024675.4(PALB2):c.2336C>T (p.Ser779Leu)
|
rs764509489
|
0.00003
|
|
NM_024675.4(PALB2):c.2641G>A (p.Gly881Ser)
|
rs766315705
|
0.00003
|
|
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)
|
rs995629797
|
0.00003
|
|
NM_024675.4(PALB2):c.2743G>A (p.Ala915Thr)
|
rs374736398
|
0.00003
|
|
NM_024675.4(PALB2):c.2748+15C>T
|
rs749756493
|
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.2997-9T>C
|
rs765733708
|
0.00003
|
|
NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile)
|
rs761032954
|
0.00003
|
|
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)
|
rs138273800
|
0.00003
|
|
NM_024675.4(PALB2):c.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.3311G>A (p.Gly1104Asp)
|
rs1060502798
|
0.00003
|
|
NM_024675.4(PALB2):c.3464C>G (p.Ser1155Cys)
|
rs755609496
|
0.00003
|
|
NM_024675.4(PALB2):c.3473A>G (p.His1158Arg)
|
rs45505500
|
0.00003
|
|
NM_024675.4(PALB2):c.3492G>T (p.Trp1164Cys)
|
rs587782217
|
0.00003
|
|
NM_024675.4(PALB2):c.445A>C (p.Lys149Gln)
|
rs770680919
|
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.1153C>A (p.Leu385Met)
|
rs748001678
|
0.00003
|
|
NM_032043.3(BRIP1):c.1171A>G (p.Ile391Val)
|
rs863224798
|
0.00003
|
|
NM_032043.3(BRIP1):c.1257G>A (p.Arg419=)
|
rs148429663
|
0.00003
|
|
NM_032043.3(BRIP1):c.1314A>G (p.Leu438=)
|
rs1291435424
|
0.00003
|
|
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)
|
rs587780228
|
0.00003
|
|
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val)
|
rs142744352
|
0.00003
|
|
NM_032043.3(BRIP1):c.1499A>G (p.Lys500Arg)
|
rs746329838
|
0.00003
|
|
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)
|
rs4988349
|
0.00003
|
|
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu)
|
rs375246789
|
0.00003
|
|
NM_032043.3(BRIP1):c.1660C>G (p.Gln554Glu)
|
rs777217004
|
0.00003
|
|
NM_032043.3(BRIP1):c.1736G>A (p.Arg579His)
|
rs768224857
|
0.00003
|
|
NM_032043.3(BRIP1):c.1794+19T>C
|
rs752328575
|
0.00003
|
|
NM_032043.3(BRIP1):c.1798T>C (p.Phe600Leu)
|
rs745367580
|
0.00003
|
|
NM_032043.3(BRIP1):c.1972C>T (p.Arg658Trp)
|
rs786203170
|
0.00003
|
|
NM_032043.3(BRIP1):c.2047G>C (p.Val683Leu)
|
rs773347072
|
0.00003
|
|
NM_032043.3(BRIP1):c.2100A>G (p.Leu700=)
|
rs766047812
|
0.00003
|
|
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)
|
rs200960251
|
0.00003
|
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
|
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser)
|
rs587780239
|
0.00003
|
|
NM_032043.3(BRIP1):c.2492+2dup
|
rs587780240
|
0.00003
|
|
NM_032043.3(BRIP1):c.2492+8G>C
|
rs772953115
|
0.00003
|
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
|
NM_032043.3(BRIP1):c.2567A>G (p.Tyr856Cys)
|
rs781556845
|
0.00003
|
|
NM_032043.3(BRIP1):c.2590G>A (p.Val864Ile)
|
rs149529390
|
0.00003
|
|
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr)
|
rs757668121
|
0.00003
|
|
NM_032043.3(BRIP1):c.2748C>T (p.Tyr916=)
|
rs555200296
|
0.00003
|
|
NM_032043.3(BRIP1):c.2806G>A (p.Glu936Lys)
|
rs754280048
|
0.00003
|
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
|
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)
|
rs200239986
|
0.00003
|
|
NM_032043.3(BRIP1):c.2858C>T (p.Thr953Ile)
|
rs201672040
|
0.00003
|
|
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=)
|
rs188258913
|
0.00003
|
|
NM_032043.3(BRIP1):c.312T>G (p.Thr104=)
|
rs769190318
|
0.00003
|
|
NM_032043.3(BRIP1):c.347C>G (p.Ser116Cys)
|
rs748793974
|
0.00003
|
|
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)
|
rs761405340
|
0.00003
|
|
NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter)
|
rs542698396
|
0.00003
|
|
NM_032043.3(BRIP1):c.3730_3731del (p.Met1244fs)
|
rs730881646
|
0.00003
|
|
NM_032043.3(BRIP1):c.379+4_379+5del
|
rs773332695
|
0.00003
|
|
NM_032043.3(BRIP1):c.628-16C>A
|
rs770648312
|
0.00003
|
|
NM_032043.3(BRIP1):c.672A>G (p.Gly224=)
|
rs752356873
|
0.00003
|
|
NM_032043.3(BRIP1):c.702G>A (p.Lys234=)
|
rs45512798
|
0.00003
|
|
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)
|
rs587781860
|
0.00003
|
|
NM_032043.3(BRIP1):c.886G>C (p.Glu296Gln)
|
rs876660125
|
0.00003
|
|
NM_032043.3(BRIP1):c.887A>G (p.Glu296Gly)
|
rs878855158
|
0.00003
|
|
NM_177438.3(DICER1):c.1381A>G (p.Ile461Val)
|
rs141163928
|
0.00003
|
|
NM_000051.4(ATM):c.1104A>G (p.Gln368=)
|
rs560691658
|
0.00002
|
|
NM_000051.4(ATM):c.1237C>T (p.Leu413=)
|
rs1565381686
|
0.00002
|
|
NM_000051.4(ATM):c.1271C>A (p.Pro424His)
|
rs147472613
|
0.00002
|
|
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln)
|
rs760676955
|
0.00002
|
|
NM_000051.4(ATM):c.1379C>T (p.Thr460Met)
|
rs587781841
|
0.00002
|
|
NM_000051.4(ATM):c.1392G>A (p.Leu464=)
|
rs760191806
|
0.00002
|
|
NM_000051.4(ATM):c.1596C>T (p.Cys532=)
|
rs564050785
|
0.00002
|
|
NM_000051.4(ATM):c.1629T>G (p.Thr543=)
|
rs760285673
|
0.00002
|
|
NM_000051.4(ATM):c.1702A>G (p.Arg568Gly)
|
rs876659425
|
0.00002
|
|
NM_000051.4(ATM):c.1707C>T (p.Ser569=)
|
rs1381837075
|
0.00002
|
|
NM_000051.4(ATM):c.175G>T (p.Ala59Ser)
|
rs752527112
|
0.00002
|
|
NM_000051.4(ATM):c.1855A>C (p.Asn619His)
|
rs140882609
|
0.00002
|
|
NM_000051.4(ATM):c.1947A>G (p.Glu649=)
|
rs1032244771
|
0.00002
|
|
NM_000051.4(ATM):c.2036G>T (p.Gly679Val)
|
rs544123518
|
0.00002
|
|
NM_000051.4(ATM):c.2082T>C (p.Leu694=)
|
rs369642243
|
0.00002
|
|
NM_000051.4(ATM):c.2085G>A (p.Leu695=)
|
rs786202229
|
0.00002
|
|
NM_000051.4(ATM):c.2115C>T (p.Tyr705=)
|
rs876659149
|
0.00002
|
|
NM_000051.4(ATM):c.2189G>A (p.Cys730Tyr)
|
rs587781595
|
0.00002
|
|
NM_000051.4(ATM):c.2262A>G (p.Gln754=)
|
rs778320952
|
0.00002
|
|
NM_000051.4(ATM):c.2619A>G (p.Gly873=)
|
rs777979257
|
0.00002
|
|
NM_000051.4(ATM):c.2638+8C>T
|
rs776116433
|
0.00002
|
|
NM_000051.4(ATM):c.2736G>A (p.Gln912=)
|
rs757305928
|
0.00002
|
|
NM_000051.4(ATM):c.2922-8T>C
|
rs545892367
|
0.00002
|
|
NM_000051.4(ATM):c.2941C>T (p.Arg981Cys)
|
rs587780619
|
0.00002
|
|
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys)
|
rs587779830
|
0.00002
|
|
NM_000051.4(ATM):c.3040G>A (p.Ala1014Thr)
|
rs587782163
|
0.00002
|
|
NM_000051.4(ATM):c.3071C>T (p.Ala1024Val)
|
rs746133264
|
0.00002
|
|
NM_000051.4(ATM):c.3212A>G (p.Asn1071Ser)
|
rs755237639
|
0.00002
|
|
NM_000051.4(ATM):c.3219A>G (p.Val1073=)
|
rs752849892
|
0.00002
|
|
NM_000051.4(ATM):c.3285-15C>T
|
rs770928986
|
0.00002
|
|
NM_000051.4(ATM):c.3369A>G (p.Ala1123=)
|
rs587780543
|
0.00002
|
|
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe)
|
rs876660498
|
0.00002
|
|
NM_000051.4(ATM):c.3402+16A>G
|
rs763382531
|
0.00002
|
|
NM_000051.4(ATM):c.3577G>A (p.Val1193Ile)
|
rs779148780
|
0.00002
|
|
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)
|
rs587778073
|
0.00002
|
|
NM_000051.4(ATM):c.3743A>G (p.Tyr1248Cys)
|
rs766226370
|
0.00002
|
|
NM_000051.4(ATM):c.3747-9T>C
|
rs760676626
|
0.00002
|
|
NM_000051.4(ATM):c.381A>G (p.Thr127=)
|
rs762582522
|
0.00002
|
|
NM_000051.4(ATM):c.38G>A (p.Arg13His)
|
rs778201041
|
0.00002
|
|
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)
|
rs35184530
|
0.00002
|
|
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys)
|
rs778123057
|
0.00002
|
|
NM_000051.4(ATM):c.3993+1G>A
|
rs200196781
|
0.00002
|
|
NM_000051.4(ATM):c.3994-2A>G
|
rs587782276
|
0.00002
|
|
NM_000051.4(ATM):c.4028T>C (p.Ile1343Thr)
|
rs1309605588
|
0.00002
|
|
NM_000051.4(ATM):c.4050G>A (p.Thr1350=)
|
rs770697446
|
0.00002
|
|
NM_000051.4(ATM):c.4079G>A (p.Ser1360Asn)
|
rs764564211
|
0.00002
|
|
NM_000051.4(ATM):c.4133C>T (p.Pro1378Leu)
|
rs750771205
|
0.00002
|
|
NM_000051.4(ATM):c.4247A>G (p.Gln1416Arg)
|
rs758180727
|
0.00002
|
|
NM_000051.4(ATM):c.425G>A (p.Ser142Asn)
|
rs755618506
|
0.00002
|
|
NM_000051.4(ATM):c.4306C>T (p.His1436Tyr)
|
rs544891616
|
0.00002
|
|
NM_000051.4(ATM):c.4332G>A (p.Leu1444=)
|
rs753570046
|
0.00002
|
|
NM_000051.4(ATM):c.4437-9C>T
|
rs766003804
|
0.00002
|
|
NM_000051.4(ATM):c.4482T>C (p.Cys1494=)
|
rs769071554
|
0.00002
|
|
NM_000051.4(ATM):c.4612-17T>C
|
rs550966528
|
0.00002
|
|
NM_000051.4(ATM):c.4626G>A (p.Leu1542=)
|
rs786202784
|
0.00002
|
|
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys)
|
rs730881393
|
0.00002
|
|
NM_000051.4(ATM):c.4921G>C (p.Asp1641His)
|
rs587782896
|
0.00002
|
|
NM_000051.4(ATM):c.5002C>T (p.Leu1668=)
|
rs747317946
|
0.00002
|
|
NM_000051.4(ATM):c.5005+8A>G
|
rs1204604787
|
0.00002
|
|
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)
|
rs375131360
|
0.00002
|
|
NM_000051.4(ATM):c.504C>G (p.Phe168Leu)
|
rs1060504312
|
0.00002
|
|
NM_000051.4(ATM):c.5125C>A (p.Gln1709Lys)
|
rs1341457041
|
0.00002
|
|
NM_000051.4(ATM):c.5319+8A>G
|
rs375051697
|
0.00002
|
|
NM_000051.4(ATM):c.5364C>T (p.Gly1788=)
|
rs780134093
|
0.00002
|
|
NM_000051.4(ATM):c.5369A>G (p.Asp1790Gly)
|
rs746945284
|
0.00002
|
|
NM_000051.4(ATM):c.5418A>G (p.Ile1806Met)
|
rs763020528
|
0.00002
|
|
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)
|
rs538452060
|
0.00002
|
|
NM_000051.4(ATM):c.5649C>T (p.Ser1883=)
|
rs1057522721
|
0.00002
|
|
NM_000051.4(ATM):c.5674G>A (p.Glu1892Lys)
|
rs730881375
|
0.00002
|
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
|
NM_000051.4(ATM):c.5817A>G (p.Leu1939=)
|
rs749652134
|
0.00002
|
|
NM_000051.4(ATM):c.6042G>A (p.Glu2014=)
|
rs138987778
|
0.00002
|
|
NM_000051.4(ATM):c.6153C>T (p.Leu2051=)
|
rs876658452
|
0.00002
|
|
NM_000051.4(ATM):c.6198+5A>G
|
rs771047560
|
0.00002
|
|
NM_000051.4(ATM):c.6199-18_6199-15del
|
rs777036353
|
0.00002
|
|
NM_000051.4(ATM):c.6219C>G (p.Leu2073=)
|
rs752478345
|
0.00002
|
|
NM_000051.4(ATM):c.6396A>G (p.Leu2132=)
|
rs370537345
|
0.00002
|
|
NM_000051.4(ATM):c.6540A>G (p.Gly2180=)
|
rs767516615
|
0.00002
|
|
NM_000051.4(ATM):c.6573-17dup
|
rs1565517900
|
0.00002
|
|
NM_000051.4(ATM):c.660G>A (p.Ala220=)
|
rs763669136
|
0.00002
|
|
NM_000051.4(ATM):c.6774C>T (p.Leu2258=)
|
rs1057520450
|
0.00002
|
|
NM_000051.4(ATM):c.67C>T (p.Arg23Ter)
|
rs746235533
|
0.00002
|
|
NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys)
|
rs886039471
|
0.00002
|
|
NM_000051.4(ATM):c.6823A>G (p.Ile2275Val)
|
rs587779857
|
0.00002
|
|
NM_000051.4(ATM):c.6897C>T (p.Phe2299=)
|
rs777164914
|
0.00002
|
|
NM_000051.4(ATM):c.7038A>T (p.Ala2346=)
|
rs146167034
|
0.00002
|
|
NM_000051.4(ATM):c.7563C>T (p.Tyr2521=)
|
rs772228129
|
0.00002
|
|
NM_000051.4(ATM):c.7593G>A (p.Met2531Ile)
|
rs786203764
|
0.00002
|
|
NM_000051.4(ATM):c.7630-3C>T
|
rs587782448
|
0.00002
|
|
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys)
|
rs755009196
|
0.00002
|
|
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser)
|
rs150355232
|
0.00002
|
|
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile)
|
rs587779870
|
0.00002
|
|
NM_000051.4(ATM):c.8120C>G (p.Ser2707Cys)
|
rs748016261
|
0.00002
|
|
NM_000051.4(ATM):c.8121C>T (p.Ser2707=)
|
rs770138283
|
0.00002
|
|
NM_000051.4(ATM):c.8129A>G (p.Lys2710Arg)
|
rs587782001
|
0.00002
|
|
NM_000051.4(ATM):c.8151+11C>T
|
rs555381912
|
0.00002
|
|
NM_000051.4(ATM):c.8151+8T>C
|
rs768069197
|
0.00002
|
|
NM_000051.4(ATM):c.8164C>T (p.Leu2722=)
|
rs587782399
|
0.00002
|
|
NM_000051.4(ATM):c.8169A>G (p.Arg2723=)
|
rs780495319
|
0.00002
|
|
NM_000051.4(ATM):c.8187A>C (p.Gln2729His)
|
rs587781946
|
0.00002
|
|
NM_000051.4(ATM):c.8269-16T>C
|
rs375051442
|
0.00002
|
|
NM_000051.4(ATM):c.8405A>G (p.Gln2802Arg)
|
rs730881324
|
0.00002
|
|
NM_000051.4(ATM):c.8427A>G (p.Gln2809=)
|
rs538173062
|
0.00002
|
|
NM_000051.4(ATM):c.8450A>G (p.Tyr2817Cys)
|
rs747764678
|
0.00002
|
|
NM_000051.4(ATM):c.8520G>C (p.Leu2840Phe)
|
rs752652869
|
0.00002
|
|
NM_000051.4(ATM):c.852A>G (p.Gln284=)
|
rs140367473
|
0.00002
|
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
|
NM_000051.4(ATM):c.901+1G>A
|
rs748840480
|
0.00002
|
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
|
NM_000051.4(ATM):c.9045G>A (p.Glu3015=)
|
rs786203336
|
0.00002
|
|
NM_000051.4(ATM):c.9119T>C (p.Ile3040Thr)
|
rs369870357
|
0.00002
|
|
NM_000051.4(ATM):c.95G>A (p.Arg32His)
|
rs368161489
|
0.00002
|
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
rs80358390
|
0.00002
|
|
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His)
|
rs80358398
|
0.00002
|
|
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)
|
rs28897709
|
0.00002
|
|
NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys)
|
rs397507603
|
0.00002
|
|
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser)
|
rs373400041
|
0.00002
|
|
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)
|
rs80358463
|
0.00002
|
|
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr)
|
rs55962656
|
0.00002
|
|
NM_000059.4(BRCA2):c.2256C>T (p.Asp752=)
|
rs766384913
|
0.00002
|
|
NM_000059.4(BRCA2):c.229A>G (p.Thr77Ala)
|
rs80358500
|
0.00002
|
|
NM_000059.4(BRCA2):c.266C>T (p.Pro89Leu)
|
rs748609599
|
0.00002
|
|
NM_000059.4(BRCA2):c.2671G>C (p.Val891Leu)
|
rs756951335
|
0.00002
|
|
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu)
|
rs28897717
|
0.00002
|
|
NM_000059.4(BRCA2):c.353G>A (p.Arg118His)
|
rs80358603
|
0.00002
|
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
|
NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val)
|
rs398122776
|
0.00002
|
|
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)
|
rs80358703
|
0.00002
|
|
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe)
|
rs750671399
|
0.00002
|
|
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile)
|
rs80358766
|
0.00002
|
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
|
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg)
|
rs80358799
|
0.00002
|
|
NM_000059.4(BRCA2):c.5836T>C (p.Ser1946Pro)
|
rs80358811
|
0.00002
|
|
NM_000059.4(BRCA2):c.5839C>T (p.Pro1947Ser)
|
rs80358812
|
0.00002
|
|
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr)
|
rs80358822
|
0.00002
|
|
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr)
|
rs587781760
|
0.00002
|
|
NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr)
|
rs144784912
|
0.00002
|
|
NM_000059.4(BRCA2):c.6550C>G (p.Gln2184Glu)
|
rs80358887
|
0.00002
|
|
NM_000059.4(BRCA2):c.6848C>A (p.Pro2283His)
|
rs80358910
|
0.00002
|
|
NM_000059.4(BRCA2):c.7021C>T (p.Arg2341Cys)
|
rs41293505
|
0.00002
|
|
NM_000059.4(BRCA2):c.72A>T (p.Leu24Phe)
|
rs397507909
|
0.00002
|
|
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe)
|
rs876660249
|
0.00002
|
|
NM_000059.4(BRCA2):c.7413A>G (p.Thr2471=)
|
rs138067005
|
0.00002
|
|
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)
|
rs80358980
|
0.00002
|
|
NM_000059.4(BRCA2):c.7559G>A (p.Arg2520Gln)
|
rs80358982
|
0.00002
|
|
NM_000059.4(BRCA2):c.7618C>A (p.Leu2540Met)
|
rs397507390
|
0.00002
|
|
NM_000059.4(BRCA2):c.7643A>G (p.His2548Arg)
|
rs80358992
|
0.00002
|
|
NM_000059.4(BRCA2):c.7822C>G (p.Pro2608Ala)
|
rs879255308
|
0.00002
|
|
NM_000059.4(BRCA2):c.7914T>G (p.Phe2638Leu)
|
rs764248927
|
0.00002
|
|
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=)
|
rs1057522378
|
0.00002
|
|
NM_000059.4(BRCA2):c.8027T>C (p.Met2676Thr)
|
rs80359038
|
0.00002
|
|
NM_000059.4(BRCA2):c.8331+3A>C
|
rs876659382
|
0.00002
|
|
NM_000059.4(BRCA2):c.8505A>G (p.Ser2835=)
|
rs765655952
|
0.00002
|
|
NM_000059.4(BRCA2):c.8515T>C (p.Tyr2839His)
|
rs758884639
|
0.00002
|
|
NM_000059.4(BRCA2):c.8603A>G (p.Lys2868Arg)
|
rs759784406
|
0.00002
|
|
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)
|
rs80359128
|
0.00002
|
|
NM_000059.4(BRCA2):c.8737G>C (p.Asp2913His)
|
rs144322424
|
0.00002
|
|
NM_000059.4(BRCA2):c.8739C>G (p.Asp2913Glu)
|
rs786201996
|
0.00002
|
|
NM_000059.4(BRCA2):c.8756G>T (p.Gly2919Val)
|
rs80359131
|
0.00002
|
|
NM_000059.4(BRCA2):c.8942A>G (p.Glu2981Gly)
|
rs398122716
|
0.00002
|
|
NM_000059.4(BRCA2):c.9085G>A (p.Ala3029Thr)
|
rs56179254
|
0.00002
|
|
NM_000059.4(BRCA2):c.9168C>G (p.His3056Gln)
|
rs876661266
|
0.00002
|
|
NM_000059.4(BRCA2):c.9234C>T (p.Val3078=)
|
rs587782428
|
0.00002
|
|
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=)
|
rs587780873
|
0.00002
|
|
NM_000059.4(BRCA2):c.9285C>T (p.Asp3095=)
|
rs80359198
|
0.00002
|
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
0.00002
|
|
NM_000059.4(BRCA2):c.9383G>A (p.Arg3128Gln)
|
rs397507427
|
0.00002
|
|
NM_000059.4(BRCA2):c.9620T>A (p.Ile3207Asn)
|
rs876658942
|
0.00002
|
|
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)
|
rs80359241
|
0.00002
|
|
NM_000136.3(FANCC):c.457-7T>C
|
rs749994612
|
0.00002
|
|
NM_000136.3(FANCC):c.843+1G>A
|
rs587779909
|
0.00002
|
|
NM_000179.3(MSH6):c.1159G>C (p.Asp387His)
|
rs746532720
|
0.00002
|
|
NM_000179.3(MSH6):c.1493A>G (p.Lys498Arg)
|
rs147136417
|
0.00002
|
|
NM_000179.3(MSH6):c.1773A>G (p.Pro591=)
|
rs752239740
|
0.00002
|
|
NM_000179.3(MSH6):c.2511C>G (p.His837Gln)
|
rs587779925
|
0.00002
|
|
NM_000179.3(MSH6):c.2857G>A (p.Glu953Lys)
|
rs753034685
|
0.00002
|
|
NM_000179.3(MSH6):c.3205G>C (p.Gly1069Arg)
|
rs764113705
|
0.00002
|
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
|
NM_000179.3(MSH6):c.3759AGA[3] (p.Glu1254dup)
|
rs587779937
|
0.00002
|
|
NM_000179.3(MSH6):c.852T>C (p.Asp284=)
|
rs1057520320
|
0.00002
|
|
NM_000249.4(MLH1):c.226G>A (p.Val76Ile)
|
rs878853788
|
0.00002
|
|
NM_000251.3(MSH2):c.1131A>G (p.Gln377=)
|
rs181852377
|
0.00002
|
|
NM_000251.3(MSH2):c.1943T>A (p.Ile648Asn)
|
rs763100088
|
0.00002
|
|
NM_000251.3(MSH2):c.2377C>G (p.Gln793Glu)
|
rs730881769
|
0.00002
|
|
NM_000251.3(MSH2):c.792+5A>G
|
rs267607935
|
0.00002
|
|
NM_000455.5(STK11):c.464+5G>A
|
rs587781681
|
0.00002
|
|
NM_000465.4(BARD1):c.1108C>T (p.Arg370Cys)
|
rs587781596
|
0.00002
|
|
NM_000465.4(BARD1):c.116C>T (p.Ala39Val)
|
rs779885670
|
0.00002
|
|
NM_000465.4(BARD1):c.1194A>G (p.Thr398=)
|
rs781482219
|
0.00002
|
|
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter)
|
rs587782681
|
0.00002
|
|
NM_000465.4(BARD1):c.1217G>A (p.Arg406Gln)
|
rs587780014
|
0.00002
|
|
NM_000465.4(BARD1):c.1228A>T (p.Ser410Cys)
|
rs1064795260
|
0.00002
|
|
NM_000465.4(BARD1):c.1439T>C (p.Leu480Ser)
|
rs149839922
|
0.00002
|
|
NM_000465.4(BARD1):c.1553C>T (p.Ala518Val)
|
rs758139986
|
0.00002
|
|
NM_000465.4(BARD1):c.1569-13C>G
|
rs587780018
|
0.00002
|
|
NM_000465.4(BARD1):c.1569-20A>G
|
rs751731322
|
0.00002
|
|
NM_000465.4(BARD1):c.159-7C>T
|
rs533403598
|
0.00002
|
|
NM_000465.4(BARD1):c.159T>C (p.Cys53=)
|
rs201708813
|
0.00002
|
|
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn)
|
rs370771157
|
0.00002
|
|
NM_000465.4(BARD1):c.1678A>G (p.Met560Val)
|
rs587780020
|
0.00002
|
|
NM_000465.4(BARD1):c.1693C>T (p.Arg565Cys)
|
rs587782279
|
0.00002
|
|
NM_000465.4(BARD1):c.1801G>A (p.Asp601Asn)
|
rs753752419
|
0.00002
|
|
NM_000465.4(BARD1):c.1838C>A (p.Ala613Glu)
|
rs146629794
|
0.00002
|
|
NM_000465.4(BARD1):c.1988A>G (p.Asn663Ser)
|
rs187590361
|
0.00002
|
|
NM_000465.4(BARD1):c.2001+10T>C
|
rs769194998
|
0.00002
|
|
NM_000465.4(BARD1):c.2001+6T>C
|
rs775009517
|
0.00002
|
|
NM_000465.4(BARD1):c.2051A>G (p.Lys684Arg)
|
rs780161956
|
0.00002
|
|
NM_000465.4(BARD1):c.2083G>A (p.Val695Ile)
|
rs111367604
|
0.00002
|
|
NM_000465.4(BARD1):c.216-15T>A
|
rs1217707454
|
0.00002
|
|
NM_000465.4(BARD1):c.2179G>A (p.Asp727Asn)
|
rs730881424
|
0.00002
|
|
NM_000465.4(BARD1):c.2279C>T (p.Ser760Leu)
|
rs730881425
|
0.00002
|
|
NM_000465.4(BARD1):c.245G>T (p.Gly82Val)
|
rs886055600
|
0.00002
|
|
NM_000465.4(BARD1):c.267G>A (p.Pro89=)
|
rs756165637
|
0.00002
|
|
NM_000465.4(BARD1):c.310A>G (p.Met104Val)
|
rs1401565860
|
0.00002
|
|
NM_000465.4(BARD1):c.31_45dup (p.Gln11_Arg15dup)
|
rs876659262
|
0.00002
|
|
NM_000465.4(BARD1):c.443G>A (p.Ser148Asn)
|
rs1220764138
|
0.00002
|
|
NM_000465.4(BARD1):c.476G>A (p.Ser159Asn)
|
rs786203226
|
0.00002
|
|
NM_000465.4(BARD1):c.531A>G (p.Gln177=)
|
rs774050888
|
0.00002
|
|
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly)
|
rs16852741
|
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.82C>A (p.Pro28Thr)
|
rs770702450
|
0.00002
|
|
NM_000465.4(BARD1):c.945A>T (p.Pro315=)
|
rs876660284
|
0.00002
|
|
NM_000465.4(BARD1):c.977A>G (p.Asn326Ser)
|
rs779960429
|
0.00002
|
|
NM_000465.4(BARD1):c.994A>C (p.Ile332Leu)
|
rs543606863
|
0.00002
|
|
NM_000535.7(PMS2):c.1048C>T (p.Leu350Phe)
|
rs587782875
|
0.00002
|
|
NM_000535.7(PMS2):c.2349C>T (p.Val783=)
|
rs751036491
|
0.00002
|
|
NM_000535.7(PMS2):c.705+3A>G
|
rs764334813
|
0.00002
|
|
NM_000535.7(PMS2):c.706-13T>C
|
rs730881918
|
0.00002
|
|
NM_000535.7(PMS2):c.988+10A>G
|
rs372554253
|
0.00002
|
|
NM_000546.6(TP53):c.-12C>T
|
rs375229869
|
0.00002
|
|
NM_000546.6(TP53):c.18A>C (p.Ser6=)
|
rs573130482
|
0.00002
|
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
|
NM_002485.5(NBN):c.1591A>G (p.Ile531Val)
|
rs587782330
|
0.00002
|
|
NM_002485.5(NBN):c.1667T>A (p.Val556Glu)
|
rs558023830
|
0.00002
|
|
NM_002878.4(RAD51D):c.164G>A (p.Arg55Gln)
|
rs151198586
|
0.00002
|
|
NM_002878.4(RAD51D):c.171G>A (p.Leu57=)
|
rs786202885
|
0.00002
|
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
|
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)
|
rs750621215
|
0.00002
|
|
NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter)
|
rs765769406
|
0.00002
|
|
NM_003738.5(PTCH2):c.1081C>T (p.Gln361Ter)
|
rs757205202
|
0.00002
|
|
NM_003981.4(PRC1):c.971-466T>C
|
rs190852637
|
0.00002
|
|
NM_004360.5(CDH1):c.1342C>G (p.Gln448Glu)
|
rs1421067964
|
0.00002
|
|
NM_004360.5(CDH1):c.1610C>T (p.Pro537Leu)
|
rs730881667
|
0.00002
|
|
NM_004360.5(CDH1):c.1679C>T (p.Thr560Met)
|
rs746481984
|
0.00002
|
|
NM_004360.5(CDH1):c.1930G>A (p.Asp644Asn)
|
rs587781696
|
0.00002
|
|
NM_004360.5(CDH1):c.1946C>T (p.Ser649Phe)
|
rs1238607560
|
0.00002
|
|
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val)
|
rs121964871
|
0.00002
|
|
NM_004360.5(CDH1):c.2202A>T (p.Arg734Ser)
|
rs745717070
|
0.00002
|
|
NM_004360.5(CDH1):c.2254G>A (p.Val752Ile)
|
rs587781351
|
0.00002
|
|
NM_004360.5(CDH1):c.2359G>A (p.Val787Ile)
|
rs766270336
|
0.00002
|
|
NM_004360.5(CDH1):c.2371C>T (p.Leu791Phe)
|
rs786202598
|
0.00002
|
|
NM_004360.5(CDH1):c.2558C>T (p.Ser853Leu)
|
rs569928380
|
0.00002
|
|
NM_004360.5(CDH1):c.2590G>A (p.Glu864Lys)
|
rs142927667
|
0.00002
|
|
NM_004360.5(CDH1):c.2595G>C (p.Trp865Cys)
|
rs778019174
|
0.00002
|
|
NM_004360.5(CDH1):c.2600A>G (p.Asn867Ser)
|
rs587782623
|
0.00002
|
|
NM_004360.5(CDH1):c.2614C>A (p.Leu872Met)
|
rs749203461
|
0.00002
|
|
NM_004360.5(CDH1):c.325A>C (p.Lys109Gln)
|
rs587782023
|
0.00002
|
|
NM_004360.5(CDH1):c.344C>T (p.Thr115Met)
|
rs370973869
|
0.00002
|
|
NM_004360.5(CDH1):c.371G>A (p.Arg124His)
|
rs115418995
|
0.00002
|
|
NM_004360.5(CDH1):c.378G>A (p.Pro126=)
|
rs786201504
|
0.00002
|
|
NM_005732.4(RAD50):c.2014C>T (p.Gln672Ter)
|
rs142947311
|
0.00002
|
|
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp)
|
rs587782268
|
0.00002
|
|
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr)
|
rs774179198
|
0.00002
|
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
|
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)
|
rs373073383
|
0.00002
|
|
NM_007194.4(CHEK2):c.1203T>C (p.Thr401=)
|
rs560781587
|
0.00002
|
|
NM_007194.4(CHEK2):c.1259+17T>C
|
rs746109434
|
0.00002
|
|
NM_007194.4(CHEK2):c.1277C>A (p.Pro426His)
|
rs769933461
|
0.00002
|
|
NM_007194.4(CHEK2):c.127A>G (p.Thr43Ala)
|
rs749158713
|
0.00002
|
|
NM_007194.4(CHEK2):c.1383C>G (p.Asp461Glu)
|
rs1060502702
|
0.00002
|
|
NM_007194.4(CHEK2):c.1459C>T (p.Gln487Ter)
|
rs876659250
|
0.00002
|
|
NM_007194.4(CHEK2):c.1462-20T>C
|
rs747767986
|
0.00002
|
|
NM_007194.4(CHEK2):c.1462-7C>G
|
rs730881707
|
0.00002
|
|
NM_007194.4(CHEK2):c.1562G>A (p.Arg521Gln)
|
rs373959274
|
0.00002
|
|
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)
|
rs371657037
|
0.00002
|
|
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp)
|
rs751653049
|
0.00002
|
|
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys)
|
rs149991239
|
0.00002
|
|
NM_007194.4(CHEK2):c.24G>T (p.Glu8Asp)
|
rs780920036
|
0.00002
|
|
NM_007194.4(CHEK2):c.275C>T (p.Pro92Leu)
|
rs779269031
|
0.00002
|
|
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter)
|
rs587782070
|
0.00002
|
|
NM_007194.4(CHEK2):c.295C>T (p.Leu99Phe)
|
rs537051622
|
0.00002
|
|
NM_007194.4(CHEK2):c.428A>G (p.His143Arg)
|
rs587782300
|
0.00002
|
|
NM_007194.4(CHEK2):c.432T>C (p.Phe144=)
|
rs876658374
|
0.00002
|
|
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His)
|
rs781254437
|
0.00002
|
|
NM_007194.4(CHEK2):c.478A>G (p.Ile160Val)
|
rs876659950
|
0.00002
|
|
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)
|
rs575910805
|
0.00002
|
|
NM_007194.4(CHEK2):c.500G>A (p.Gly167Glu)
|
rs144850845
|
0.00002
|
|
NM_007194.4(CHEK2):c.592+9A>G
|
rs538351542
|
0.00002
|
|
NM_007194.4(CHEK2):c.600C>G (p.Val200=)
|
rs141685349
|
0.00002
|
|
NM_007194.4(CHEK2):c.608A>G (p.Asp203Gly)
|
rs587782813
|
0.00002
|
|
NM_007194.4(CHEK2):c.60G>T (p.Gln20His)
|
rs375507194
|
0.00002
|
|
NM_007194.4(CHEK2):c.660C>T (p.Tyr220=)
|
rs876659987
|
0.00002
|
|
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)
|
rs750616657
|
0.00002
|
|
NM_007194.4(CHEK2):c.684-20A>G
|
rs1057520266
|
0.00002
|
|
NM_007194.4(CHEK2):c.684-6C>T
|
rs776400765
|
0.00002
|
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
|
NM_007194.4(CHEK2):c.793-17T>C
|
rs778511901
|
0.00002
|
|
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)
|
rs587782347
|
0.00002
|
|
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)
|
rs587780194
|
0.00002
|
|
NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly)
|
rs730881442
|
0.00002
|
|
NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys)
|
rs397508902
|
0.00002
|
|
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys)
|
rs80356994
|
0.00002
|
|
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)
|
rs80356895
|
0.00002
|
|
NM_007294.4(BRCA1):c.2808T>G (p.Asp936Glu)
|
rs730881485
|
0.00002
|
|
NM_007294.4(BRCA1):c.3130A>G (p.Ile1044Val)
|
rs80357271
|
0.00002
|
|
NM_007294.4(BRCA1):c.3835G>A (p.Ala1279Thr)
|
rs80357036
|
0.00002
|
|
NM_007294.4(BRCA1):c.4097-11T>C
|
rs80358072
|
0.00002
|
|
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=)
|
rs41293453
|
0.00002
|
|
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)
|
rs397507239
|
0.00002
|
|
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=)
|
rs191373374
|
0.00002
|
|
NM_007294.4(BRCA1):c.522A>G (p.Gln174=)
|
rs765432756
|
0.00002
|
|
NM_007294.4(BRCA1):c.5274A>G (p.Arg1758=)
|
rs758739620
|
0.00002
|
|
NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala)
|
rs80357451
|
0.00002
|
|
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)
|
rs80357323
|
0.00002
|
|
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
|
rs397509327
|
0.00002
|
|
NM_007294.4(BRCA1):c.994C>T (p.Arg332Trp)
|
rs80357176
|
0.00002
|
|
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln)
|
rs201035780
|
0.00002
|
|
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly)
|
rs773001248
|
0.00002
|
|
NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala)
|
rs545119348
|
0.00002
|
|
NM_024675.4(PALB2):c.1377C>A (p.Asp459Glu)
|
rs771002573
|
0.00002
|
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
0.00002
|
|
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)
|
rs763598472
|
0.00002
|
|
NM_024675.4(PALB2):c.1515C>T (p.Ala505=)
|
rs745837198
|
0.00002
|
|
NM_024675.4(PALB2):c.1594C>T (p.Pro532Ser)
|
rs763007754
|
0.00002
|
|
NM_024675.4(PALB2):c.1599T>C (p.Thr533=)
|
rs786201088
|
0.00002
|
|
NM_024675.4(PALB2):c.1743A>G (p.Leu581=)
|
rs180177105
|
0.00002
|
|
NM_024675.4(PALB2):c.1744T>C (p.Ser582Pro)
|
rs876659597
|
0.00002
|
|
NM_024675.4(PALB2):c.1767G>A (p.Thr589=)
|
rs769849072
|
0.00002
|
|
NM_024675.4(PALB2):c.1839G>A (p.Gln613=)
|
rs199682414
|
0.00002
|
|
NM_024675.4(PALB2):c.1865T>C (p.Leu622Pro)
|
rs753012991
|
0.00002
|
|
NM_024675.4(PALB2):c.187C>T (p.Leu63Phe)
|
rs730881899
|
0.00002
|
|
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)
|
rs587781818
|
0.00002
|
|
NM_024675.4(PALB2):c.2034A>G (p.Leu678=)
|
rs373796987
|
0.00002
|
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
|
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
|
rs587776416
|
0.00002
|
|
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)
|
rs141749524
|
0.00002
|
|
NM_024675.4(PALB2):c.2253T>C (p.Ala751=)
|
rs138514571
|
0.00002
|
|
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)
|
rs180177110
|
0.00002
|
|
NM_024675.4(PALB2):c.2278C>A (p.Leu760Ile)
|
rs769634658
|
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.2564T>C (p.Leu855Pro)
|
rs774497779
|
0.00002
|
|
NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly)
|
rs515726090
|
0.00002
|
|
NM_024675.4(PALB2):c.2755G>A (p.Val919Ile)
|
rs775193384
|
0.00002
|
|
NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser)
|
rs45464500
|
0.00002
|
|
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)
|
rs369132015
|
0.00002
|
|
NM_024675.4(PALB2):c.2953T>C (p.Ser985Pro)
|
rs139726856
|
0.00002
|
|
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met)
|
rs61756146
|
0.00002
|
|
NM_024675.4(PALB2):c.2979G>A (p.Thr993=)
|
rs772357409
|
0.00002
|
|
NM_024675.4(PALB2):c.2989G>T (p.Asp997Tyr)
|
rs1555459513
|
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.3114-10G>A
|
rs756415176
|
0.00002
|
|
NM_024675.4(PALB2):c.3202-45A>G
|
rs370826543
|
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.3285_3286insGTTAATG (p.Asn1096fs)
|
rs1966508734
|
0.00002
|
|
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)
|
rs180177135
|
0.00002
|
|
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro)
|
rs515726116
|
0.00002
|
|
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=)
|
rs748363227
|
0.00002
|
|
NM_024675.4(PALB2):c.36G>A (p.Glu12=)
|
rs760609798
|
0.00002
|
|
NM_024675.4(PALB2):c.48+4C>T
|
rs876659843
|
0.00002
|
|
NM_024675.4(PALB2):c.746C>T (p.Pro249Leu)
|
rs759810283
|
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.808A>G (p.Ser270Gly)
|
rs1347076714
|
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.-95G>A
|
rs892920553
|
0.00002
|
|
NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp)
|
rs587780225
|
0.00002
|
|
NM_032043.3(BRIP1):c.1340+7A>T
|
rs755399646
|
0.00002
|
|
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter)
|
rs775171520
|
0.00002
|
|
NM_032043.3(BRIP1):c.1377A>C (p.Arg459Ser)
|
rs780310294
|
0.00002
|
|
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg)
|
rs45501097
|
0.00002
|
|
NM_032043.3(BRIP1):c.151G>A (p.Gly51Arg)
|
rs1603367704
|
0.00002
|
|
NM_032043.3(BRIP1):c.1644T>C (p.Tyr548=)
|
rs372760869
|
0.00002
|
|
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)
|
rs780020495
|
0.00002
|
|
NM_032043.3(BRIP1):c.1752T>C (p.Thr584=)
|
rs778774207
|
0.00002
|
|
NM_032043.3(BRIP1):c.1759C>G (p.His587Asp)
|
rs876660519
|
0.00002
|
|
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met)
|
rs28997572
|
0.00002
|
|
NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter)
|
rs876659533
|
0.00002
|
|
NM_032043.3(BRIP1):c.2129C>T (p.Ser710Phe)
|
rs768393936
|
0.00002
|
|
NM_032043.3(BRIP1):c.2258-15T>C
|
rs780573511
|
0.00002
|
|
NM_032043.3(BRIP1):c.2406C>T (p.Asp802=)
|
rs748981650
|
0.00002
|
|
NM_032043.3(BRIP1):c.2554A>G (p.Asn852Asp)
|
rs745782331
|
0.00002
|
|
NM_032043.3(BRIP1):c.2575+7T>A
|
rs750874535
|
0.00002
|
|
NM_032043.3(BRIP1):c.2606A>G (p.Gln869Arg)
|
rs1060501733
|
0.00002
|
|
NM_032043.3(BRIP1):c.2751T>C (p.Ser917=)
|
rs150780318
|
0.00002
|
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00002
|
|
NM_032043.3(BRIP1):c.2893A>C (p.Arg965=)
|
rs113697814
|
0.00002
|
|
NM_032043.3(BRIP1):c.2905+15T>G
|
rs749855085
|
0.00002
|
|
NM_032043.3(BRIP1):c.2905+4T>C
|
rs373835270
|
0.00002
|
|
NM_032043.3(BRIP1):c.3064G>A (p.Glu1022Lys)
|
rs587782808
|
0.00002
|
|
NM_032043.3(BRIP1):c.3188C>T (p.Ser1063Leu)
|
rs575998972
|
0.00002
|
|
NM_032043.3(BRIP1):c.3191T>C (p.Phe1064Ser)
|
rs916937983
|
0.00002
|
|
NM_032043.3(BRIP1):c.3296T>G (p.Leu1099Arg)
|
rs772709195
|
0.00002
|
|
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn)
|
rs587781923
|
0.00002
|
|
NM_032043.3(BRIP1):c.332C>A (p.Pro111Gln)
|
rs201790351
|
0.00002
|
|
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln)
|
rs587780248
|
0.00002
|
|
NM_032043.3(BRIP1):c.3334G>T (p.Asp1112Tyr)
|
rs968860042
|
0.00002
|
|
NM_032043.3(BRIP1):c.3349T>G (p.Ser1117Ala)
|
rs779860140
|
0.00002
|
|
NM_032043.3(BRIP1):c.3489T>C (p.Asp1163=)
|
rs144245485
|
0.00002
|
|
NM_032043.3(BRIP1):c.3546C>T (p.Ala1182=)
|
rs755440956
|
0.00002
|
|
NM_032043.3(BRIP1):c.362C>G (p.Thr121Ser)
|
rs777630298
|
0.00002
|
|
NM_032043.3(BRIP1):c.3676A>C (p.Thr1226Pro)
|
rs781140410
|
0.00002
|
|
NM_032043.3(BRIP1):c.386C>T (p.Pro129Leu)
|
rs587780831
|
0.00002
|
|
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser)
|
rs730881623
|
0.00002
|
|
NM_032043.3(BRIP1):c.397A>T (p.Thr133Ser)
|
rs764256720
|
0.00002
|
|
NM_032043.3(BRIP1):c.507+14A>G
|
rs754102734
|
0.00002
|
|
NM_032043.3(BRIP1):c.507+20A>C
|
rs369270945
|
0.00002
|
|
NM_032043.3(BRIP1):c.518G>A (p.Arg173His)
|
rs761432927
|
0.00002
|
|
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu)
|
rs565458815
|
0.00002
|
|
NM_032043.3(BRIP1):c.633del (p.Gly212fs)
|
rs779466229
|
0.00002
|
|
NM_032043.3(BRIP1):c.638A>G (p.His213Arg)
|
rs376760085
|
0.00002
|
|
NM_032043.3(BRIP1):c.661A>G (p.Thr221Ala)
|
rs777618772
|
0.00002
|
|
NM_032043.3(BRIP1):c.662C>G (p.Thr221Ser)
|
rs373774920
|
0.00002
|
|
NM_032043.3(BRIP1):c.713C>T (p.Thr238Ile)
|
rs745955726
|
0.00002
|
|
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val)
|
rs376893571
|
0.00002
|
|
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala)
|
rs138743097
|
0.00002
|
|
NM_032043.3(BRIP1):c.791G>A (p.Arg264Gln)
|
rs758360637
|
0.00002
|
|
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met)
|
rs550031006
|
0.00002
|
|
NM_032043.3(BRIP1):c.820A>G (p.Thr274Ala)
|
rs62620988
|
0.00002
|
|
NM_032043.3(BRIP1):c.859G>A (p.Glu287Lys)
|
rs1309409845
|
0.00002
|
|
NM_032043.3(BRIP1):c.924A>G (p.Lys308=)
|
rs374974885
|
0.00002
|
|
NM_032043.3(BRIP1):c.94-4A>G
|
rs765154059
|
0.00002
|
|
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)
|
rs730880473
|
0.00002
|
|
NC_000022.11:g.28741832T>A
|
rs1264820873
|
0.00001
|
|
NM_000038.6(APC):c.5177A>G (p.Glu1726Gly)
|
rs587780598
|
0.00001
|
|
NM_000038.6(APC):c.7377T>C (p.Ser2459=)
|
rs775573115
|
0.00001
|
|
NM_000038.6(APC):c.993G>A (p.Ser331=)
|
rs148343173
|
0.00001
|
|
NM_000051.4(ATM):c.1021G>A (p.Val341Ile)
|
rs200601781
|
0.00001
|
|
NM_000051.4(ATM):c.1023C>T (p.Val341=)
|
rs35728619
|
0.00001
|
|
NM_000051.4(ATM):c.1029A>G (p.Glu343=)
|
rs778388800
|
0.00001
|
|
NM_000051.4(ATM):c.1038T>A (p.Ile346=)
|
rs749950833
|
0.00001
|
|
NM_000051.4(ATM):c.1049C>T (p.Ala350Val)
|
rs375049090
|
0.00001
|
|
NM_000051.4(ATM):c.104G>A (p.Arg35Gln)
|
rs876659324
|
0.00001
|
|
NM_000051.4(ATM):c.1051G>A (p.Asp351Asn)
|
rs876659092
|
0.00001
|
|
NM_000051.4(ATM):c.1080T>G (p.Asp360Glu)
|
rs199869975
|
0.00001
|
|
NM_000051.4(ATM):c.1110C>T (p.Tyr370=)
|
rs376170600
|
0.00001
|
|
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)
|
rs34083085
|
0.00001
|
|
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs)
|
rs886041340
|
0.00001
|
|
NM_000051.4(ATM):c.1166T>G (p.Ile389Arg)
|
rs757486696
|
0.00001
|
|
NM_000051.4(ATM):c.1197C>T (p.His399=)
|
rs786201131
|
0.00001
|
|
NM_000051.4(ATM):c.1203G>A (p.Gln401=)
|
rs1214283617
|
0.00001
|
|
NM_000051.4(ATM):c.1206G>A (p.Lys402=)
|
rs776001057
|
0.00001
|
|
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter)
|
rs747563556
|
0.00001
|
|
NM_000051.4(ATM):c.1209A>G (p.Ser403=)
|
rs1213832469
|
0.00001
|
|
NM_000051.4(ATM):c.1235+3A>G
|
rs1417190414
|
0.00001
|
|
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter)
|
rs587779813
|
0.00001
|
|
NM_000051.4(ATM):c.1236-8T>C
|
rs756160331
|
0.00001
|
|
NM_000051.4(ATM):c.1242G>A (p.Gln414=)
|
rs786203667
|
0.00001
|
|
NM_000051.4(ATM):c.1261T>C (p.Ser421Pro)
|
rs376196220
|
0.00001
|
|
NM_000051.4(ATM):c.127C>G (p.Leu43Val)
|
rs772591447
|
0.00001
|
|
NM_000051.4(ATM):c.1302A>G (p.Pro434=)
|
rs1555070715
|
0.00001
|
|
NM_000051.4(ATM):c.1303T>C (p.Leu435=)
|
rs748469311
|
0.00001
|
|
NM_000051.4(ATM):c.1317A>G (p.Leu439=)
|
rs1232968268
|
0.00001
|
|
NM_000051.4(ATM):c.1329A>C (p.Leu443=)
|
rs201460863
|
0.00001
|
|
NM_000051.4(ATM):c.1338G>A (p.Gln446=)
|
rs771673512
|
0.00001
|
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
|
NM_000051.4(ATM):c.134G>A (p.Arg45Gln)
|
rs762382111
|
0.00001
|
|
NM_000051.4(ATM):c.1352G>A (p.Arg451His)
|
rs554805703
|
0.00001
|
|
NM_000051.4(ATM):c.1362T>C (p.Tyr454=)
|
rs1373614735
|
0.00001
|
|
NM_000051.4(ATM):c.1363G>A (p.Val455Met)
|
rs368879876
|
0.00001
|
|
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)
|
rs749036865
|
0.00001
|
|
NM_000051.4(ATM):c.138T>C (p.His46=)
|
rs770834907
|
0.00001
|
|
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter)
|
rs876660485
|
0.00001
|
|
NM_000051.4(ATM):c.1407G>A (p.Arg469=)
|
rs1555070912
|
0.00001
|
|
NM_000051.4(ATM):c.1410A>G (p.Ser470=)
|
rs939650649
|
0.00001
|
|
NM_000051.4(ATM):c.1436A>G (p.Asp479Gly)
|
rs1555070958
|
0.00001
|
|
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)
|
rs1555070980
|
0.00001
|
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
|
NM_000051.4(ATM):c.1455T>C (p.Asn485=)
|
rs1385019623
|
0.00001
|
|
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)
|
rs879254093
|
0.00001
|
|
NM_000051.4(ATM):c.1466G>T (p.Cys489Phe)
|
rs776412334
|
0.00001
|
|
NM_000051.4(ATM):c.1473C>G (p.Thr491=)
|
rs764937436
|
0.00001
|
|
NM_000051.4(ATM):c.1477C>T (p.Arg493Cys)
|
rs750280306
|
0.00001
|
|
NM_000051.4(ATM):c.1481G>A (p.Gly494Asp)
|
rs786202233
|
0.00001
|
|
NM_000051.4(ATM):c.1494G>A (p.Glu498=)
|
rs763108858
|
0.00001
|
|
NM_000051.4(ATM):c.149A>G (p.Lys50Arg)
|
rs1479478300
|
0.00001
|
|
NM_000051.4(ATM):c.1505C>G (p.Ala502Gly)
|
rs766595156
|
0.00001
|
|
NM_000051.4(ATM):c.1515T>C (p.Phe505=)
|
rs1057520521
|
0.00001
|
|
NM_000051.4(ATM):c.1536T>A (p.Ile512=)
|
rs1060504296
|
0.00001
|
|
NM_000051.4(ATM):c.153A>G (p.Gln51=)
|
rs2078823585
|
0.00001
|
|
NM_000051.4(ATM):c.1547T>G (p.Leu516Ter)
|
rs786202195
|
0.00001
|
|
NM_000051.4(ATM):c.1575G>A (p.Lys525=)
|
rs587780613
|
0.00001
|
|
NM_000051.4(ATM):c.1607+1G>T
|
rs772926890
|
0.00001
|
|
NM_000051.4(ATM):c.1608-8T>C
|
rs201110707
|
0.00001
|
|
NM_000051.4(ATM):c.1614A>G (p.Ala538=)
|
rs876659636
|
0.00001
|
|
NM_000051.4(ATM):c.1634C>T (p.Ala545Val)
|
rs878853485
|
0.00001
|
|
NM_000051.4(ATM):c.1641C>A (p.Thr547=)
|
rs864622141
|
0.00001
|
|
NM_000051.4(ATM):c.1641C>G (p.Thr547=)
|
rs864622141
|
0.00001
|
|
NM_000051.4(ATM):c.1648A>G (p.Ile550Val)
|
rs202144949
|
0.00001
|
|
NM_000051.4(ATM):c.1656A>G (p.Pro552=)
|
rs1060504275
|
0.00001
|
|
NM_000051.4(ATM):c.1662G>A (p.Thr554=)
|
rs764646531
|
0.00001
|
|
NM_000051.4(ATM):c.1695A>G (p.Glu565=)
|
rs780932013
|
0.00001
|
|
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)
|
rs587779818
|
0.00001
|
|
NM_000051.4(ATM):c.1746C>T (p.Phe582=)
|
rs145629926
|
0.00001
|
|
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)
|
rs587780614
|
0.00001
|
|
NM_000051.4(ATM):c.1758G>A (p.Glu586=)
|
rs1555072017
|
0.00001
|
|
NM_000051.4(ATM):c.1768G>C (p.Glu590Gln)
|
rs876659283
|
0.00001
|
|
NM_000051.4(ATM):c.1802+7T>G
|
rs1057521381
|
0.00001
|
|
NM_000051.4(ATM):c.1838T>G (p.Val613Gly)
|
rs762018538
|
0.00001
|
|
NM_000051.4(ATM):c.1841G>C (p.Ser614Thr)
|
rs770377706
|
0.00001
|
|
NM_000051.4(ATM):c.185+10T>C
|
rs1555054317
|
0.00001
|
|
NM_000051.4(ATM):c.185+4T>A
|
rs1060501685
|
0.00001
|
|
NM_000051.4(ATM):c.185+7T>C
|
rs143404880
|
0.00001
|
|
NM_000051.4(ATM):c.185+8A>G
|
rs753891198
|
0.00001
|
|
NM_000051.4(ATM):c.186-19G>A
|
rs748791429
|
0.00001
|
|
NM_000051.4(ATM):c.186-1G>A
|
rs1259911051
|
0.00001
|
|
NM_000051.4(ATM):c.186-8T>C
|
rs1355404740
|
0.00001
|
|
NM_000051.4(ATM):c.1870A>G (p.Met624Val)
|
rs863224557
|
0.00001
|
|
NM_000051.4(ATM):c.1874A>T (p.Asn625Ile)
|
rs766757573
|
0.00001
|
|
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys)
|
rs546087885
|
0.00001
|
|
NM_000051.4(ATM):c.1893A>G (p.Pro631=)
|
rs764702196
|
0.00001
|
|
NM_000051.4(ATM):c.1898+9T>C
|
rs1057520836
|
0.00001
|
|
NM_000051.4(ATM):c.1899-10T>G
|
rs763685190
|
0.00001
|
|
NM_000051.4(ATM):c.1899-11C>T
|
rs730881282
|
0.00001
|
|
NM_000051.4(ATM):c.1907A>G (p.His636Arg)
|
rs1333990758
|
0.00001
|
|
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs)
|
rs1060501610
|
0.00001
|
|
NM_000051.4(ATM):c.1929T>G (p.Leu643=)
|
rs876659911
|
0.00001
|
|
NM_000051.4(ATM):c.192A>G (p.Leu64=)
|
rs587780616
|
0.00001
|
|
NM_000051.4(ATM):c.193C>G (p.Gln65Glu)
|
rs775248597
|
0.00001
|
|
NM_000051.4(ATM):c.1955T>C (p.Phe652Ser)
|
rs766259936
|
0.00001
|
|
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)
|
rs528165789
|
0.00001
|
|
NM_000051.4(ATM):c.1961A>C (p.Gln654Pro)
|
rs876659966
|
0.00001
|
|
NM_000051.4(ATM):c.2019G>A (p.Lys673=)
|
rs786203021
|
0.00001
|
|
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)
|
rs777849257
|
0.00001
|
|
NM_000051.4(ATM):c.2050C>G (p.Gln684Glu)
|
rs1060501691
|
0.00001
|
|
NM_000051.4(ATM):c.2051A>G (p.Gln684Arg)
|
rs772393149
|
0.00001
|
|
NM_000051.4(ATM):c.2062G>A (p.Glu688Lys)
|
rs769338089
|
0.00001
|
|
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)
|
rs765965513
|
0.00001
|
|
NM_000051.4(ATM):c.2075G>A (p.Arg692His)
|
rs751515818
|
0.00001
|
|
NM_000051.4(ATM):c.2088A>G (p.Gly696=)
|
rs1555073469
|
0.00001
|
|
NM_000051.4(ATM):c.2124+6A>T
|
rs550998406
|
0.00001
|
|
NM_000051.4(ATM):c.2125-8A>G
|
rs757565418
|
0.00001
|
|
NM_000051.4(ATM):c.2128A>G (p.Thr710Ala)
|
rs750506930
|
0.00001
|
|
NM_000051.4(ATM):c.2168T>C (p.Val723Ala)
|
rs745399310
|
0.00001
|
|
NM_000051.4(ATM):c.2175C>T (p.Val725=)
|
rs140110298
|
0.00001
|
|
NM_000051.4(ATM):c.2181C>T (p.Gly727=)
|
rs876658836
|
0.00001
|
|
NM_000051.4(ATM):c.2208T>C (p.Ala736=)
|
rs761874856
|
0.00001
|
|
NM_000051.4(ATM):c.2229A>G (p.Ser743=)
|
rs758453118
|
0.00001
|
|
NM_000051.4(ATM):c.2238C>T (p.Phe746=)
|
rs786203595
|
0.00001
|
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
|
NM_000051.4(ATM):c.2251-11A>G
|
rs755369461
|
0.00001
|
|
NM_000051.4(ATM):c.2251-7A>G
|
rs879254103
|
0.00001
|
|
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys)
|
rs3205809
|
0.00001
|
|
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg)
|
rs587779819
|
0.00001
|
|
NM_000051.4(ATM):c.229A>G (p.Ile77Val)
|
rs1064796032
|
0.00001
|
|
NM_000051.4(ATM):c.2322T>C (p.Gly774=)
|
rs769575297
|
0.00001
|
|
NM_000051.4(ATM):c.2331A>G (p.Arg777=)
|
rs1313482346
|
0.00001
|
|
NM_000051.4(ATM):c.2336T>C (p.Met779Thr)
|
rs587778066
|
0.00001
|
|
NM_000051.4(ATM):c.2353C>T (p.Arg785Cys)
|
rs587778065
|
0.00001
|
|
NM_000051.4(ATM):c.2369G>C (p.Cys790Ser)
|
rs764538548
|
0.00001
|
|
NM_000051.4(ATM):c.2373C>T (p.Thr791=)
|
rs878853494
|
0.00001
|
|
NM_000051.4(ATM):c.2377-13G>C
|
rs1296989358
|
0.00001
|
|
NM_000051.4(ATM):c.2377-18T>C
|
rs761207086
|
0.00001
|
|
NM_000051.4(ATM):c.2377A>G (p.Lys793Glu)
|
rs587781583
|
0.00001
|
|
NM_000051.4(ATM):c.2379G>A (p.Lys793=)
|
rs1333875379
|
0.00001
|
|
NM_000051.4(ATM):c.238C>T (p.Pro80Ser)
|
rs750597831
|
0.00001
|
|
NM_000051.4(ATM):c.2419T>C (p.Leu807=)
|
rs1555076667
|
0.00001
|
|
NM_000051.4(ATM):c.241A>G (p.Asn81Asp)
|
rs758962678
|
0.00001
|
|
NM_000051.4(ATM):c.2428A>G (p.Lys810Glu)
|
rs201909756
|
0.00001
|
|
NM_000051.4(ATM):c.2459A>G (p.Lys820Arg)
|
rs952566855
|
0.00001
|
|
NM_000051.4(ATM):c.2466A>G (p.Leu822=)
|
rs747108452
|
0.00001
|
|
NM_000051.4(ATM):c.2467-2A>C
|
rs1555082050
|
0.00001
|
|
NM_000051.4(ATM):c.2467-7C>T
|
rs768850329
|
0.00001
|
|
NM_000051.4(ATM):c.246A>G (p.Val82=)
|
rs757944864
|
0.00001
|
|
NM_000051.4(ATM):c.2474T>G (p.Phe825Cys)
|
rs1060501648
|
0.00001
|
|
NM_000051.4(ATM):c.2475C>T (p.Phe825=)
|
rs776907383
|
0.00001
|
|
NM_000051.4(ATM):c.2480A>G (p.Lys827Arg)
|
rs372230498
|
0.00001
|
|
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly)
|
rs587781352
|
0.00001
|
|
NM_000051.4(ATM):c.2501A>T (p.Glu834Val)
|
rs730881349
|
0.00001
|
|
NM_000051.4(ATM):c.250G>T (p.Ala84Ser)
|
rs1382256509
|
0.00001
|
|
NM_000051.4(ATM):c.2532A>G (p.Gly844=)
|
rs755261743
|
0.00001
|
|
NM_000051.4(ATM):c.2550G>A (p.Glu850=)
|
rs1399925352
|
0.00001
|
|
NM_000051.4(ATM):c.2552A>G (p.Asp851Gly)
|
rs748203812
|
0.00001
|
|
NM_000051.4(ATM):c.2564T>C (p.Met855Thr)
|
rs587779824
|
0.00001
|
|
NM_000051.4(ATM):c.2571A>G (p.Leu857=)
|
rs1191404395
|
0.00001
|
|
NM_000051.4(ATM):c.2577C>T (p.Asn859=)
|
rs730881286
|
0.00001
|
|
NM_000051.4(ATM):c.2578G>A (p.Asp860Asn)
|
rs587779825
|
0.00001
|
|
NM_000051.4(ATM):c.2589T>C (p.Asp863=)
|
rs1057520227
|
0.00001
|
|
NM_000051.4(ATM):c.2598T>G (p.Val866=)
|
rs730881350
|
0.00001
|
|
NM_000051.4(ATM):c.2615C>T (p.Pro872Leu)
|
rs786202977
|
0.00001
|
|
NM_000051.4(ATM):c.261A>G (p.Gln87=)
|
rs2078887941
|
0.00001
|
|
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)
|
rs370269552
|
0.00001
|
|
NM_000051.4(ATM):c.2639-18A>G
|
rs1555083057
|
0.00001
|
|
NM_000051.4(ATM):c.2639-3T>C
|
rs1410247657
|
0.00001
|
|
NM_000051.4(ATM):c.2639-7T>C
|
rs912886321
|
0.00001
|
|
NM_000051.4(ATM):c.2688T>C (p.Leu896=)
|
rs769490863
|
0.00001
|
|
NM_000051.4(ATM):c.2698A>G (p.Met900Val)
|
rs138468963
|
0.00001
|
|
NM_000051.4(ATM):c.2720G>T (p.Cys907Phe)
|
rs775371838
|
0.00001
|
|
NM_000051.4(ATM):c.2748G>T (p.Val916=)
|
rs1050470790
|
0.00001
|
|
NM_000051.4(ATM):c.2786T>C (p.Met929Thr)
|
rs745737218
|
0.00001
|
|
NM_000051.4(ATM):c.2796T>C (p.Asp932=)
|
rs1273202474
|
0.00001
|
|
NM_000051.4(ATM):c.2798C>G (p.Ser933Cys)
|
rs56087610
|
0.00001
|
|
NM_000051.4(ATM):c.280A>G (p.Met94Val)
|
rs864622758
|
0.00001
|
|
NM_000051.4(ATM):c.2818A>G (p.Lys940Glu)
|
rs1064795896
|
0.00001
|
|
NM_000051.4(ATM):c.2838+4A>G
|
rs876659907
|
0.00001
|
|
NM_000051.4(ATM):c.2838+8dup
|
rs1364656453
|
0.00001
|
|
NM_000051.4(ATM):c.2839-10A>G
|
rs770032309
|
0.00001
|
|
NM_000051.4(ATM):c.2839-16C>T
|
rs761953913
|
0.00001
|
|
NM_000051.4(ATM):c.2859G>A (p.Glu953=)
|
rs569489729
|
0.00001
|
|
NM_000051.4(ATM):c.2862T>C (p.Leu954=)
|
rs1426256662
|
0.00001
|
|
NM_000051.4(ATM):c.2921C>T (p.Ser974Phe)
|
rs538105098
|
0.00001
|
|
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser)
|
rs730881354
|
0.00001
|
|
NM_000051.4(ATM):c.2934T>G (p.Ser978=)
|
rs368678134
|
0.00001
|
|
NM_000051.4(ATM):c.2940T>C (p.Tyr980=)
|
rs748119565
|
0.00001
|
|
NM_000051.4(ATM):c.2970T>C (p.Ile990=)
|
rs2081569239
|
0.00001
|
|
NM_000051.4(ATM):c.2983C>T (p.Leu995Phe)
|
rs587779831
|
0.00001
|
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
|
NM_000051.4(ATM):c.3003A>G (p.Leu1001=)
|
rs765969190
|
0.00001
|
|
NM_000051.4(ATM):c.3030C>T (p.Asn1010=)
|
rs876660913
|
0.00001
|
|
NM_000051.4(ATM):c.3077+5G>A
|
rs777003996
|
0.00001
|
|
NM_000051.4(ATM):c.3077+8C>G
|
rs752601608
|
0.00001
|
|
NM_000051.4(ATM):c.3077+9del
|
rs2081578007
|
0.00001
|
|
NM_000051.4(ATM):c.3078-11C>T
|
rs756972430
|
0.00001
|
|
NM_000051.4(ATM):c.3078-1G>A
|
rs750663117
|
0.00001
|
|
NM_000051.4(ATM):c.3099A>G (p.Lys1033=)
|
rs1813895840
|
0.00001
|
|
NM_000051.4(ATM):c.309C>T (p.Tyr103=)
|
rs777499935
|
0.00001
|
|
NM_000051.4(ATM):c.3108C>T (p.Phe1036=)
|
rs867514913
|
0.00001
|
|
NM_000051.4(ATM):c.3114A>T (p.Val1038=)
|
rs374451781
|
0.00001
|
|
NM_000051.4(ATM):c.3132T>C (p.Asn1044=)
|
rs1430714562
|
0.00001
|
|
NM_000051.4(ATM):c.3138T>G (p.Leu1046=)
|
rs3092858
|
0.00001
|
|
NM_000051.4(ATM):c.3154-11T>C
|
rs748543045
|
0.00001
|
|
NM_000051.4(ATM):c.3154-16A>G
|
rs556888479
|
0.00001
|
|
NM_000051.4(ATM):c.3154-2A>G
|
rs730881357
|
0.00001
|
|
NM_000051.4(ATM):c.3165T>C (p.Tyr1055=)
|
rs768038217
|
0.00001
|
|
NM_000051.4(ATM):c.3176C>T (p.Ala1059Val)
|
rs761590782
|
0.00001
|
|
NM_000051.4(ATM):c.3189A>G (p.Val1063=)
|
rs76122065
|
0.00001
|
|
NM_000051.4(ATM):c.3190A>G (p.Met1064Val)
|
rs79431304
|
0.00001
|
|
NM_000051.4(ATM):c.3191T>C (p.Met1064Thr)
|
rs1160497775
|
0.00001
|
|
NM_000051.4(ATM):c.3194G>A (p.Gly1065Glu)
|
rs762810180
|
0.00001
|
|
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)
|
rs1060501687
|
0.00001
|
|
NM_000051.4(ATM):c.322G>A (p.Ala108Thr)
|
rs730881370
|
0.00001
|
|
NM_000051.4(ATM):c.3231T>A (p.Phe1077Leu)
|
rs971770683
|
0.00001
|
|
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)
|
rs149911447
|
0.00001
|
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
|
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser)
|
rs730881358
|
0.00001
|
|
NM_000051.4(ATM):c.3281A>G (p.Asn1094Ser)
|
rs199883473
|
0.00001
|
|
NM_000051.4(ATM):c.3284+7G>C
|
rs371629629
|
0.00001
|
|
NM_000051.4(ATM):c.3285-19T>C
|
rs749167327
|
0.00001
|
|
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)
|
rs189445371
|
0.00001
|
|
NM_000051.4(ATM):c.3303G>A (p.Lys1101=)
|
rs925487325
|
0.00001
|
|
NM_000051.4(ATM):c.331+10G>A
|
rs755557468
|
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.3328G>A (p.Ala1110Thr)
|
rs147112946
|
0.00001
|
|
NM_000051.4(ATM):c.3330A>G (p.Ala1110=)
|
rs1009383081
|
0.00001
|
|
NM_000051.4(ATM):c.3331C>G (p.Leu1111Val)
|
rs587779832
|
0.00001
|
|
NM_000051.4(ATM):c.3333T>G (p.Leu1111=)
|
rs750932338
|
0.00001
|
|
NM_000051.4(ATM):c.3336T>A (p.Pro1112=)
|
rs758784434
|
0.00001
|
|
NM_000051.4(ATM):c.3341A>T (p.Lys1114Met)
|
rs777705500
|
0.00001
|
|
NM_000051.4(ATM):c.3351A>G (p.Gln1117=)
|
rs777375945
|
0.00001
|
|
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)
|
rs587779833
|
0.00001
|
|
NM_000051.4(ATM):c.337C>T (p.Pro113Ser)
|
rs1060501678
|
0.00001
|
|
NM_000051.4(ATM):c.3402+9A>G
|
rs761919506
|
0.00001
|
|
NM_000051.4(ATM):c.3411T>C (p.Ser1137=)
|
rs369518512
|
0.00001
|
|
NM_000051.4(ATM):c.3415G>C (p.Glu1139Gln)
|
rs786203048
|
0.00001
|
|
NM_000051.4(ATM):c.3432G>A (p.Leu1144=)
|
rs1060501625
|
0.00001
|
|
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu)
|
rs567344545
|
0.00001
|
|
NM_000051.4(ATM):c.3488C>A (p.Ser1163Tyr)
|
rs372766122
|
0.00001
|
|
NM_000051.4(ATM):c.3504C>T (p.Cys1168=)
|
rs876658368
|
0.00001
|
|
NM_000051.4(ATM):c.3549T>C (p.Asn1183=)
|
rs767377764
|
0.00001
|
|
NM_000051.4(ATM):c.3558A>G (p.Glu1186=)
|
rs12786957
|
0.00001
|
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
|
NM_000051.4(ATM):c.3577-12T>C
|
rs757616718
|
0.00001
|
|
NM_000051.4(ATM):c.3577-7C>T
|
rs558667657
|
0.00001
|
|
NM_000051.4(ATM):c.3606A>G (p.Gly1202=)
|
rs1189826741
|
0.00001
|
|
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys)
|
rs760928285
|
0.00001
|
|
NM_000051.4(ATM):c.3627T>C (p.Phe1209=)
|
rs762605020
|
0.00001
|
|
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)
|
rs864622490
|
0.00001
|
|
NM_000051.4(ATM):c.366T>C (p.Asn122=)
|
rs1178025248
|
0.00001
|
|
NM_000051.4(ATM):c.3676G>C (p.Asp1226His)
|
rs370974808
|
0.00001
|
|
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro)
|
rs183532834
|
0.00001
|
|
NM_000051.4(ATM):c.3720C>T (p.Asn1240=)
|
rs1478427829
|
0.00001
|
|
NM_000051.4(ATM):c.3723C>T (p.Tyr1241=)
|
rs772331389
|
0.00001
|
|
NM_000051.4(ATM):c.372C>A (p.Ile124=)
|
rs773495195
|
0.00001
|
|
NM_000051.4(ATM):c.373A>G (p.Met125Val)
|
rs761137313
|
0.00001
|
|
NM_000051.4(ATM):c.3746+12C>A
|
rs768841674
|
0.00001
|
|
NM_000051.4(ATM):c.3747-16A>G
|
rs1555093241
|
0.00001
|
|
NM_000051.4(ATM):c.3747-8A>G
|
rs569612113
|
0.00001
|
|
NM_000051.4(ATM):c.3756T>C (p.Tyr1252=)
|
rs886039637
|
0.00001
|
|
NM_000051.4(ATM):c.3771A>C (p.Pro1257=)
|
rs1057523320
|
0.00001
|
|
NM_000051.4(ATM):c.37C>T (p.Arg13Cys)
|
rs141586345
|
0.00001
|
|
NM_000051.4(ATM):c.3802G>A (p.Val1268Met)
|
rs863224564
|
0.00001
|
|
NM_000051.4(ATM):c.3832G>A (p.Asp1278Asn)
|
rs730881365
|
0.00001
|
|
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)
|
rs730881389
|
0.00001
|
|
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)
|
rs183263185
|
0.00001
|
|
NM_000051.4(ATM):c.3918T>C (p.Ser1306=)
|
rs139632347
|
0.00001
|
|
NM_000051.4(ATM):c.3921G>A (p.Gly1307=)
|
rs969461745
|
0.00001
|
|
NM_000051.4(ATM):c.3951G>A (p.Lys1317=)
|
rs1485996895
|
0.00001
|
|
NM_000051.4(ATM):c.3952G>T (p.Val1318Phe)
|
rs587778074
|
0.00001
|
|
NM_000051.4(ATM):c.3956A>G (p.Tyr1319Cys)
|
rs1424433891
|
0.00001
|
|
NM_000051.4(ATM):c.3982T>C (p.Leu1328=)
|
rs876658204
|
0.00001
|
|
NM_000051.4(ATM):c.3992A>G (p.Gln1331Arg)
|
rs876658669
|
0.00001
|
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
|
NM_000051.4(ATM):c.400G>A (p.Gly134Ser)
|
rs2234998
|
0.00001
|
|
NM_000051.4(ATM):c.4010T>A (p.Ile1337Asn)
|
rs1060501660
|
0.00001
|
|
NM_000051.4(ATM):c.401G>A (p.Gly134Asp)
|
rs771166271
|
0.00001
|
|
NM_000051.4(ATM):c.4023A>T (p.Pro1341=)
|
rs1020202983
|
0.00001
|
|
NM_000051.4(ATM):c.4032G>C (p.Val1344=)
|
rs769871715
|
0.00001
|
|
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met)
|
rs587781785
|
0.00001
|
|
NM_000051.4(ATM):c.4055A>G (p.His1352Arg)
|
rs925124248
|
0.00001
|
|
NM_000051.4(ATM):c.4056T>C (p.His1352=)
|
rs587780622
|
0.00001
|
|
NM_000051.4(ATM):c.4071T>C (p.Ser1357=)
|
rs767516955
|
0.00001
|
|
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly)
|
rs751169467
|
0.00001
|
|
NM_000051.4(ATM):c.4101C>T (p.Asp1367=)
|
rs587780623
|
0.00001
|
|
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)
|
rs1057520640
|
0.00001
|
|
NM_000051.4(ATM):c.4109+10T>C
|
rs1236628481
|
0.00001
|
|
NM_000051.4(ATM):c.4109+4T>C
|
rs754706599
|
0.00001
|
|
NM_000051.4(ATM):c.4109+9A>C
|
rs730881289
|
0.00001
|
|
NM_000051.4(ATM):c.4110-4T>C
|
rs777186156
|
0.00001
|
|
NM_000051.4(ATM):c.4114T>C (p.Leu1372=)
|
rs762242838
|
0.00001
|
|
NM_000051.4(ATM):c.411C>T (p.Tyr137=)
|
rs756160533
|
0.00001
|
|
NM_000051.4(ATM):c.4120C>T (p.Pro1374Ser)
|
rs749215545
|
0.00001
|
|
NM_000051.4(ATM):c.4149G>A (p.Ser1383=)
|
rs749180334
|
0.00001
|
|
NM_000051.4(ATM):c.4153G>T (p.Val1385Leu)
|
rs1064794484
|
0.00001
|
|
NM_000051.4(ATM):c.4196C>A (p.Thr1399Asn)
|
rs786203761
|
0.00001
|
|
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter)
|
rs587781950
|
0.00001
|
|
NM_000051.4(ATM):c.4210A>G (p.Ile1404Val)
|
rs786201832
|
0.00001
|
|
NM_000051.4(ATM):c.4235C>T (p.Pro1412Leu)
|
rs776581499
|
0.00001
|
|
NM_000051.4(ATM):c.4236+8T>C
|
rs765636697
|
0.00001
|
|
NM_000051.4(ATM):c.4237-13G>A
|
rs778685615
|
0.00001
|
|
NM_000051.4(ATM):c.4237-8T>C
|
rs750427647
|
0.00001
|
|
NM_000051.4(ATM):c.4256T>C (p.Leu1419Pro)
|
rs1060501622
|
0.00001
|
|
NM_000051.4(ATM):c.42A>G (p.Gln14=)
|
rs771378101
|
0.00001
|
|
NM_000051.4(ATM):c.432A>G (p.Ile144Met)
|
rs772173522
|
0.00001
|
|
NM_000051.4(ATM):c.433C>T (p.Leu145=)
|
rs587782328
|
0.00001
|
|
NM_000051.4(ATM):c.4356T>C (p.Asp1452=)
|
rs1283294799
|
0.00001
|
|
NM_000051.4(ATM):c.4358T>G (p.Ile1453Arg)
|
rs587782126
|
0.00001
|
|
NM_000051.4(ATM):c.4398A>G (p.Arg1466=)
|
rs142728382
|
0.00001
|
|
NM_000051.4(ATM):c.439A>G (p.Lys147Glu)
|
rs587782509
|
0.00001
|
|
NM_000051.4(ATM):c.4401C>T (p.Asp1467=)
|
rs876660356
|
0.00001
|
|
NM_000051.4(ATM):c.4420C>G (p.His1474Asp)
|
rs587779840
|
0.00001
|
|
NM_000051.4(ATM):c.4436+10A>G
|
rs878853509
|
0.00001
|
|
NM_000051.4(ATM):c.4437-12T>C
|
rs772888878
|
0.00001
|
|
NM_000051.4(ATM):c.4437-13dup
|
rs1555099701
|
0.00001
|
|
NM_000051.4(ATM):c.4437-1G>C
|
rs759520465
|
0.00001
|
|
NM_000051.4(ATM):c.4437-20T>G
|
rs558432723
|
0.00001
|
|
NM_000051.4(ATM):c.4442C>T (p.Ser1481Phe)
|
rs863224572
|
0.00001
|
|
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys)
|
rs754181173
|
0.00001
|
|
NM_000051.4(ATM):c.4467T>C (p.Arg1489=)
|
rs746296827
|
0.00001
|
|
NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly)
|
rs876658711
|
0.00001
|
|
NM_000051.4(ATM):c.4471T>C (p.Phe1491Leu)
|
rs587781944
|
0.00001
|
|
NM_000051.4(ATM):c.4492T>C (p.Leu1498=)
|
rs748949478
|
0.00001
|
|
NM_000051.4(ATM):c.4500G>A (p.Gln1500=)
|
rs1345605814
|
0.00001
|
|
NM_000051.4(ATM):c.450T>A (p.Leu150=)
|
rs1168425290
|
0.00001
|
|
NM_000051.4(ATM):c.4515C>T (p.Ala1505=)
|
rs540798997
|
0.00001
|
|
NM_000051.4(ATM):c.4518G>A (p.Val1506=)
|
rs1057524110
|
0.00001
|
|
NM_000051.4(ATM):c.4551T>A (p.Leu1517=)
|
rs1459998980
|
0.00001
|
|
NM_000051.4(ATM):c.4561G>C (p.Val1521Leu)
|
rs141329176
|
0.00001
|
|
NM_000051.4(ATM):c.4569A>G (p.Thr1523=)
|
rs1555099963
|
0.00001
|
|
NM_000051.4(ATM):c.456G>T (p.Val152=)
|
rs1555059433
|
0.00001
|
|
NM_000051.4(ATM):c.4576C>A (p.Pro1526Thr)
|
rs748898098
|
0.00001
|
|
NM_000051.4(ATM):c.4611+9C>G
|
rs760704159
|
0.00001
|
|
NM_000051.4(ATM):c.4612-4T>G
|
rs569983068
|
0.00001
|
|
NM_000051.4(ATM):c.4615T>C (p.Leu1539=)
|
rs976206782
|
0.00001
|
|
NM_000051.4(ATM):c.4629A>G (p.Lys1543=)
|
rs745565564
|
0.00001
|
|
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)
|
rs779718362
|
0.00001
|
|
NM_000051.4(ATM):c.4639A>T (p.Ile1547Leu)
|
rs537377433
|
0.00001
|
|
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His)
|
rs587781320
|
0.00001
|
|
NM_000051.4(ATM):c.4667A>G (p.Tyr1556Cys)
|
rs587782037
|
0.00001
|
|
NM_000051.4(ATM):c.4668T>G (p.Tyr1556Ter)
|
rs766438805
|
0.00001
|
|
NM_000051.4(ATM):c.4677T>A (p.Ile1559=)
|
rs759660081
|
0.00001
|
|
NM_000051.4(ATM):c.4703A>G (p.His1568Arg)
|
rs368830730
|
0.00001
|
|
NM_000051.4(ATM):c.4759C>G (p.Pro1587Ala)
|
rs786202473
|
0.00001
|
|
NM_000051.4(ATM):c.475A>G (p.Ile159Val)
|
rs1565357315
|
0.00001
|
|
NM_000051.4(ATM):c.4761C>T (p.Pro1587=)
|
rs769562370
|
0.00001
|
|
NM_000051.4(ATM):c.4770C>T (p.Leu1590=)
|
rs749475519
|
0.00001
|
|
NM_000051.4(ATM):c.4777-15C>T
|
rs1057521023
|
0.00001
|
|
NM_000051.4(ATM):c.4777-3T>C
|
rs1468242174
|
0.00001
|
|
NM_000051.4(ATM):c.4777-4T>C
|
rs756025941
|
0.00001
|
|
NM_000051.4(ATM):c.4779A>G (p.Glu1593=)
|
rs587778076
|
0.00001
|
|
NM_000051.4(ATM):c.478T>C (p.Ser160Pro)
|
rs761170769
|
0.00001
|
|
NM_000051.4(ATM):c.4821A>G (p.Pro1607=)
|
rs786203559
|
0.00001
|
|
NM_000051.4(ATM):c.4822T>C (p.Leu1608=)
|
rs775464644
|
0.00001
|
|
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)
|
rs762083530
|
0.00001
|
|
NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln)
|
rs765759912
|
0.00001
|
|
NM_000051.4(ATM):c.4878T>C (p.Asp1626=)
|
rs755687834
|
0.00001
|
|
NM_000051.4(ATM):c.4880A>T (p.Gln1627Leu)
|
rs786203857
|
0.00001
|
|
NM_000051.4(ATM):c.4881G>T (p.Gln1627His)
|
rs1374689246
|
0.00001
|
|
NM_000051.4(ATM):c.488A>G (p.Gln163Arg)
|
rs876660598
|
0.00001
|
|
NM_000051.4(ATM):c.48A>G (p.Glu16=)
|
rs774768437
|
0.00001
|
|
NM_000051.4(ATM):c.4909+1G>A
|
rs756987454
|
0.00001
|
|
NM_000051.4(ATM):c.4909+3G>A
|
rs778685122
|
0.00001
|
|
NM_000051.4(ATM):c.4909+4C>T
|
rs587782125
|
0.00001
|
|
NM_000051.4(ATM):c.4910-16A>T
|
rs866500582
|
0.00001
|
|
NM_000051.4(ATM):c.4910-4C>T
|
rs786202493
|
0.00001
|
|
NM_000051.4(ATM):c.4910-5T>C
|
rs1309478967
|
0.00001
|
|
NM_000051.4(ATM):c.4916C>T (p.Pro1639Leu)
|
rs752459491
|
0.00001
|
|
NM_000051.4(ATM):c.493T>C (p.Leu165=)
|
rs878853514
|
0.00001
|
|
NM_000051.4(ATM):c.4947C>T (p.Val1649=)
|
rs1436324961
|
0.00001
|
|
NM_000051.4(ATM):c.496+3A>G
|
rs876658311
|
0.00001
|
|
NM_000051.4(ATM):c.497-14_497-13insC
|
rs776788385
|
0.00001
|
|
NM_000051.4(ATM):c.497-1G>A
|
rs778624615
|
0.00001
|
|
NM_000051.4(ATM):c.4975A>G (p.Ile1659Val)
|
rs778632065
|
0.00001
|
|
NM_000051.4(ATM):c.4997A>C (p.Glu1666Ala)
|
rs1457261046
|
0.00001
|
|
NM_000051.4(ATM):c.5005+1G>T
|
rs1057517427
|
0.00001
|
|
NM_000051.4(ATM):c.5005+9C>T
|
rs730881291
|
0.00001
|
|
NM_000051.4(ATM):c.5006-3T>C
|
rs761297488
|
0.00001
|
|
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu)
|
rs587782153
|
0.00001
|
|
NM_000051.4(ATM):c.5055C>T (p.Thr1685=)
|
rs587780551
|
0.00001
|
|
NM_000051.4(ATM):c.5056A>G (p.Ile1686Val)
|
rs145453814
|
0.00001
|
|
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)
|
rs199836342
|
0.00001
|
|
NM_000051.4(ATM):c.5076A>C (p.Lys1692Asn)
|
rs767841041
|
0.00001
|
|
NM_000051.4(ATM):c.5079T>C (p.Asp1693=)
|
rs753036834
|
0.00001
|
|
NM_000051.4(ATM):c.507T>C (p.Ser169=)
|
rs758619186
|
0.00001
|
|
NM_000051.4(ATM):c.5132C>G (p.Thr1711Ser)
|
rs1291016764
|
0.00001
|
|
NM_000051.4(ATM):c.5136C>T (p.Phe1712=)
|
rs786203371
|
0.00001
|
|
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro)
|
rs747800057
|
0.00001
|
|
NM_000051.4(ATM):c.5157T>C (p.Asn1719=)
|
rs786203254
|
0.00001
|
|
NM_000051.4(ATM):c.5164C>T (p.Leu1722=)
|
rs1255639252
|
0.00001
|
|
NM_000051.4(ATM):c.5177+3G>A
|
rs774216164
|
0.00001
|
|
NM_000051.4(ATM):c.5183A>G (p.Lys1728Arg)
|
rs1060501613
|
0.00001
|
|
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)
|
rs764389018
|
0.00001
|
|
NM_000051.4(ATM):c.5203dup (p.Thr1735fs)
|
rs878853518
|
0.00001
|
|
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)
|
rs587779844
|
0.00001
|
|
NM_000051.4(ATM):c.522C>G (p.Leu174=)
|
rs780173724
|
0.00001
|
|
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn)
|
rs748900588
|
0.00001
|
|
NM_000051.4(ATM):c.526C>G (p.Leu176Val)
|
rs375798802
|
0.00001
|
|
NM_000051.4(ATM):c.5271A>G (p.Thr1757=)
|
rs1555105759
|
0.00001
|
|
NM_000051.4(ATM):c.5290del (p.Leu1764fs)
|
rs587779846
|
0.00001
|
|
NM_000051.4(ATM):c.5293C>T (p.Gln1765Ter)
|
rs2083444895
|
0.00001
|
|
NM_000051.4(ATM):c.5310A>G (p.Ser1770=)
|
rs1060504282
|
0.00001
|
|
NM_000051.4(ATM):c.5319+3C>A
|
rs371640963
|
0.00001
|
|
NM_000051.4(ATM):c.5319+7T>A
|
rs925428128
|
0.00001
|
|
NM_000051.4(ATM):c.5320-10T>C
|
rs864622731
|
0.00001
|
|
NM_000051.4(ATM):c.5323T>G (p.Leu1775Val)
|
rs768820804
|
0.00001
|
|
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs)
|
rs1214541502
|
0.00001
|
|
NM_000051.4(ATM):c.5355T>G (p.Pro1785=)
|
rs1025083720
|
0.00001
|
|
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr)
|
rs776309355
|
0.00001
|
|
NM_000051.4(ATM):c.5382G>A (p.Leu1794=)
|
rs188362115
|
0.00001
|
|
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr)
|
rs773546064
|
0.00001
|
|
NM_000051.4(ATM):c.5435C>T (p.Ala1812Val)
|
rs199885813
|
0.00001
|
|
NM_000051.4(ATM):c.5461T>C (p.Cys1821Arg)
|
rs562930561
|
0.00001
|
|
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe)
|
rs764784077
|
0.00001
|
|
NM_000051.4(ATM):c.5471T>G (p.Leu1824Arg)
|
rs1565479465
|
0.00001
|
|
NM_000051.4(ATM):c.5497-10T>C
|
rs1457831101
|
0.00001
|
|
NM_000051.4(ATM):c.5544T>C (p.Asp1848=)
|
rs146568734
|
0.00001
|
|
NM_000051.4(ATM):c.554T>C (p.Val185Ala)
|
rs730881335
|
0.00001
|
|
NM_000051.4(ATM):c.5553C>G (p.Leu1851=)
|
rs786201126
|
0.00001
|
|
NM_000051.4(ATM):c.5561C>G (p.Thr1854Arg)
|
rs138710254
|
0.00001
|
|
NM_000051.4(ATM):c.5595T>C (p.His1865=)
|
rs772261410
|
0.00001
|
|
NM_000051.4(ATM):c.5613C>T (p.Thr1871=)
|
rs2083601650
|
0.00001
|
|
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser)
|
rs202028401
|
0.00001
|
|
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)
|
rs758908522
|
0.00001
|
|
NM_000051.4(ATM):c.5634G>A (p.Ser1878=)
|
rs767070325
|
0.00001
|
|
NM_000051.4(ATM):c.5639C>T (p.Thr1880Met)
|
rs587780628
|
0.00001
|
|
NM_000051.4(ATM):c.5640G>A (p.Thr1880=)
|
rs757103582
|
0.00001
|
|
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)
|
rs786204433
|
0.00001
|
|
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln)
|
rs587782236
|
0.00001
|
|
NM_000051.4(ATM):c.5658T>C (p.Pro1886=)
|
rs940182945
|
0.00001
|
|
NM_000051.4(ATM):c.5661A>G (p.Ala1887=)
|
rs876658939
|
0.00001
|
|
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)
|
rs775036118
|
0.00001
|
|
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln)
|
rs370680798
|
0.00001
|
|
NM_000051.4(ATM):c.5707A>G (p.Lys1903Glu)
|
rs765027485
|
0.00001
|
|
NM_000051.4(ATM):c.5718A>G (p.Gln1906=)
|
rs863224293
|
0.00001
|
|
NM_000051.4(ATM):c.5728C>A (p.Leu1910Ile)
|
rs143577586
|
0.00001
|
|
NM_000051.4(ATM):c.5747T>C (p.Met1916Thr)
|
rs1060501557
|
0.00001
|
|
NM_000051.4(ATM):c.5750G>C (p.Arg1917Thr)
|
rs377289524
|
0.00001
|
|
NM_000051.4(ATM):c.5763-1056G>A
|
rs1325461375
|
0.00001
|
|
NM_000051.4(ATM):c.5763-19A>G
|
rs967402817
|
0.00001
|
|
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)
|
rs876658740
|
0.00001
|
|
NM_000051.4(ATM):c.5824G>T (p.Ala1942Ser)
|
rs1286443989
|
0.00001
|
|
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)
|
rs730881394
|
0.00001
|
|
NM_000051.4(ATM):c.5835T>G (p.Ala1945=)
|
rs768106055
|
0.00001
|
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00001
|
|
NM_000051.4(ATM):c.5886A>G (p.Ala1962=)
|
rs1057522876
|
0.00001
|
|
NM_000051.4(ATM):c.5892G>C (p.Lys1964Asn)
|
rs786202728
|
0.00001
|
|
NM_000051.4(ATM):c.5914A>G (p.Lys1972Glu)
|
rs1060501652
|
0.00001
|
|
NM_000051.4(ATM):c.5918+7G>A
|
rs1423323603
|
0.00001
|
|
NM_000051.4(ATM):c.5919-19G>A
|
rs1679583556
|
0.00001
|
|
NM_000051.4(ATM):c.5919-8A>G
|
rs1176654682
|
0.00001
|
|
NM_000051.4(ATM):c.591A>T (p.Gly197=)
|
rs587780630
|
0.00001
|
|
NM_000051.4(ATM):c.5930T>C (p.Phe1977Ser)
|
rs780867575
|
0.00001
|
|
NM_000051.4(ATM):c.5945A>G (p.Gln1982Arg)
|
rs543980602
|
0.00001
|
|
NM_000051.4(ATM):c.5964C>T (p.Ser1988=)
|
rs774260725
|
0.00001
|
|
NM_000051.4(ATM):c.5971G>A (p.Glu1991Lys)
|
rs786203404
|
0.00001
|
|
NM_000051.4(ATM):c.5993G>T (p.Gly1998Val)
|
rs1188125296
|
0.00001
|
|
NM_000051.4(ATM):c.5994A>T (p.Gly1998=)
|
rs56046250
|
0.00001
|
|
NM_000051.4(ATM):c.5999G>A (p.Ser2000Asn)
|
rs775921052
|
0.00001
|
|
NM_000051.4(ATM):c.5G>A (p.Ser2Asn)
|
rs730881360
|
0.00001
|
|
NM_000051.4(ATM):c.6006+13G>C
|
rs368207631
|
0.00001
|
|
NM_000051.4(ATM):c.6006+8T>C
|
rs56019194
|
0.00001
|
|
NM_000051.4(ATM):c.6007-10A>G
|
rs373395916
|
0.00001
|
|
NM_000051.4(ATM):c.6007-16G>A
|
rs771998564
|
0.00001
|
|
NM_000051.4(ATM):c.6012T>C (p.Leu2004=)
|
rs1324998068
|
0.00001
|
|
NM_000051.4(ATM):c.6015C>T (p.Leu2005=)
|
rs1397821498
|
0.00001
|
|
NM_000051.4(ATM):c.6025T>C (p.Tyr2009His)
|
rs199586999
|
0.00001
|
|
NM_000051.4(ATM):c.6057T>C (p.Tyr2019=)
|
rs777534711
|
0.00001
|
|
NM_000051.4(ATM):c.6062G>A (p.Cys2021Tyr)
|
rs876660062
|
0.00001
|
|
NM_000051.4(ATM):c.6064G>A (p.Gly2022Ser)
|
rs35991214
|
0.00001
|
|
NM_000051.4(ATM):c.6095+1G>A
|
rs587781584
|
0.00001
|
|
NM_000051.4(ATM):c.6095+5A>G
|
rs757328753
|
0.00001
|
|
NM_000051.4(ATM):c.6095+8G>T
|
rs547072690
|
0.00001
|
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
|
NM_000051.4(ATM):c.6096-3T>C
|
rs748380897
|
0.00001
|
|
NM_000051.4(ATM):c.6097C>T (p.Leu2033=)
|
rs769813736
|
0.00001
|
|
NM_000051.4(ATM):c.6105A>G (p.Thr2035=)
|
rs1555113708
|
0.00001
|
|
NM_000051.4(ATM):c.6122T>C (p.Met2041Thr)
|
rs1000032847
|
0.00001
|
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
|
NM_000051.4(ATM):c.6192C>A (p.Ile2064=)
|
rs876659831
|
0.00001
|
|
NM_000051.4(ATM):c.6199-6G>A
|
rs1555114529
|
0.00001
|
|
NM_000051.4(ATM):c.6215G>C (p.Gly2072Ala)
|
rs1183544857
|
0.00001
|
|
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val)
|
rs755973863
|
0.00001
|
|
NM_000051.4(ATM):c.6247G>A (p.Gly2083Arg)
|
rs1060501586
|
0.00001
|
|
NM_000051.4(ATM):c.6250T>C (p.Leu2084=)
|
rs772608345
|
0.00001
|
|
NM_000051.4(ATM):c.6255T>A (p.Asp2085Glu)
|
rs376898203
|
0.00001
|
|
NM_000051.4(ATM):c.6257A>T (p.Tyr2086Phe)
|
rs730881380
|
0.00001
|
|
NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser)
|
rs946942912
|
0.00001
|
|
NM_000051.4(ATM):c.6296A>G (p.His2099Arg)
|
rs587782802
|
0.00001
|
|
NM_000051.4(ATM):c.6318T>C (p.Asn2106=)
|
rs864622730
|
0.00001
|
|
NM_000051.4(ATM):c.6332A>G (p.His2111Arg)
|
rs876658300
|
0.00001
|
|
NM_000051.4(ATM):c.6336C>T (p.Cys2112=)
|
rs755845798
|
0.00001
|
|
NM_000051.4(ATM):c.6342C>T (p.Ser2114=)
|
rs754020535
|
0.00001
|
|
NM_000051.4(ATM):c.6347+1G>A
|
rs1057517120
|
0.00001
|
|
NM_000051.4(ATM):c.6374A>G (p.His2125Arg)
|
rs730881381
|
0.00001
|
|
NM_000051.4(ATM):c.6394C>T (p.Leu2132=)
|
rs551408889
|
0.00001
|
|
NM_000051.4(ATM):c.6412A>G (p.Arg2138Gly)
|
rs752069869
|
0.00001
|
|
NM_000051.4(ATM):c.6419T>G (p.Phe2140Cys)
|
rs1297621371
|
0.00001
|
|
NM_000051.4(ATM):c.6420C>A (p.Phe2140Leu)
|
rs587780635
|
0.00001
|
|
NM_000051.4(ATM):c.6447T>C (p.Tyr2149=)
|
rs1057519167
|
0.00001
|
|
NM_000051.4(ATM):c.6456A>G (p.Val2152=)
|
rs876660014
|
0.00001
|
|
NM_000051.4(ATM):c.6482G>A (p.Arg2161His)
|
rs756626462
|
0.00001
|
|
NM_000051.4(ATM):c.6500A>G (p.Tyr2167Cys)
|
rs768155385
|
0.00001
|
|
NM_000051.4(ATM):c.6504G>A (p.Ser2168=)
|
rs786203522
|
0.00001
|
|
NM_000051.4(ATM):c.6507C>G (p.Leu2169=)
|
rs863224295
|
0.00001
|
|
NM_000051.4(ATM):c.6516A>G (p.Thr2172=)
|
rs576254168
|
0.00001
|
|
NM_000051.4(ATM):c.6522C>T (p.Ser2174=)
|
rs772850740
|
0.00001
|
|
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr)
|
rs878853532
|
0.00001
|
|
NM_000051.4(ATM):c.6551G>C (p.Ser2184Thr)
|
rs374551964
|
0.00001
|
|
NM_000051.4(ATM):c.6558G>A (p.Gly2186=)
|
rs1555117263
|
0.00001
|
|
NM_000051.4(ATM):c.6572+4T>C
|
rs587780636
|
0.00001
|
|
NM_000051.4(ATM):c.6573-2A>G
|
rs751168951
|
0.00001
|
|
NM_000051.4(ATM):c.6629del (p.Gln2210fs)
|
rs2085556498
|
0.00001
|
|
NM_000051.4(ATM):c.6630G>A (p.Gln2210=)
|
rs777515589
|
0.00001
|
|
NM_000051.4(ATM):c.6652A>C (p.Ser2218Arg)
|
rs749261367
|
0.00001
|
|
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter)
|
rs1060501536
|
0.00001
|
|
NM_000051.4(ATM):c.6671T>C (p.Met2224Thr)
|
rs730881313
|
0.00001
|
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
|
NM_000051.4(ATM):c.6681C>T (p.Arg2227=)
|
rs775850434
|
0.00001
|
|
NM_000051.4(ATM):c.6687C>A (p.Val2229=)
|
rs1442555144
|
0.00001
|
|
NM_000051.4(ATM):c.6700C>T (p.Leu2234=)
|
rs760602228
|
0.00001
|
|
NM_000051.4(ATM):c.6701T>A (p.Leu2234Gln)
|
rs1158183992
|
0.00001
|
|
NM_000051.4(ATM):c.6736T>G (p.Cys2246Gly)
|
rs767070729
|
0.00001
|
|
NM_000051.4(ATM):c.6739A>G (p.Ile2247Val)
|
rs587781521
|
0.00001
|
|
NM_000051.4(ATM):c.6741T>G (p.Ile2247Met)
|
rs876658607
|
0.00001
|
|
NM_000051.4(ATM):c.6756C>T (p.Thr2252=)
|
rs1008212556
|
0.00001
|
|
NM_000051.4(ATM):c.6759A>C (p.Lys2253Asn)
|
rs1060501602
|
0.00001
|
|
NM_000051.4(ATM):c.6784G>C (p.Ala2262Pro)
|
rs587781674
|
0.00001
|
|
NM_000051.4(ATM):c.6807+10A>G
|
rs924117395
|
0.00001
|
|
NM_000051.4(ATM):c.6807G>A (p.Gln2269=)
|
rs587780638
|
0.00001
|
|
NM_000051.4(ATM):c.6808-13A>G
|
rs1410228904
|
0.00001
|
|
NM_000051.4(ATM):c.6808-20A>G
|
rs1240565463
|
0.00001
|
|
NM_000051.4(ATM):c.680C>T (p.Ser227Leu)
|
rs762998620
|
0.00001
|
|
NM_000051.4(ATM):c.6835A>G (p.Lys2279Glu)
|
rs756898113
|
0.00001
|
|
NM_000051.4(ATM):c.6839del (p.Gln2280fs)
|
rs1407907917
|
0.00001
|
|
NM_000051.4(ATM):c.6846T>C (p.Asn2282=)
|
rs541718119
|
0.00001
|
|
NM_000051.4(ATM):c.6848C>T (p.Ser2283Leu)
|
rs876660730
|
0.00001
|
|
NM_000051.4(ATM):c.6924C>A (p.Ala2308=)
|
rs759878732
|
0.00001
|
|
NM_000051.4(ATM):c.6925C>T (p.Leu2309=)
|
rs763839047
|
0.00001
|
|
NM_000051.4(ATM):c.6927G>T (p.Leu2309=)
|
rs876660429
|
0.00001
|
|
NM_000051.4(ATM):c.6929G>A (p.Ser2310Asn)
|
rs1381019767
|
0.00001
|
|
NM_000051.4(ATM):c.692A>G (p.His231Arg)
|
rs587782229
|
0.00001
|
|
NM_000051.4(ATM):c.6931A>G (p.Ile2311Val)
|
rs776429506
|
0.00001
|
|
NM_000051.4(ATM):c.6942A>C (p.Gln2314His)
|
rs764859160
|
0.00001
|
|
NM_000051.4(ATM):c.6952A>G (p.Lys2318Glu)
|
rs1449259481
|
0.00001
|
|
NM_000051.4(ATM):c.6966C>T (p.Ser2322=)
|
rs864622593
|
0.00001
|
|
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val)
|
rs200940211
|
0.00001
|
|
NM_000051.4(ATM):c.6975+5G>T
|
rs575354684
|
0.00001
|
|
NM_000051.4(ATM):c.6975+5del
|
rs1442949382
|
0.00001
|
|
NM_000051.4(ATM):c.6975+7T>A
|
rs754834282
|
0.00001
|
|
NM_000051.4(ATM):c.6975+9T>C
|
rs1290573965
|
0.00001
|
|
NM_000051.4(ATM):c.6976-6dup
|
rs760058702
|
0.00001
|
|
NM_000051.4(ATM):c.6997dup
|
rs587781299
|
0.00001
|
|
NM_000051.4(ATM):c.69A>G (p.Arg23=)
|
rs876659304
|
0.00001
|
|
NM_000051.4(ATM):c.7016G>A (p.Arg2339Lys)
|
rs1305313302
|
0.00001
|
|
NM_000051.4(ATM):c.7017G>A (p.Arg2339=)
|
rs1591142466
|
0.00001
|
|
NM_000051.4(ATM):c.702A>G (p.Ala234=)
|
rs752751588
|
0.00001
|
|
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter)
|
rs1131691162
|
0.00001
|
|
NM_000051.4(ATM):c.7108A>G (p.Asn2370Asp)
|
rs767494363
|
0.00001
|
|
NM_000051.4(ATM):c.7110T>C (p.Asn2370=)
|
rs752476328
|
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.7131T>C (p.Asp2377=)
|
rs373309822
|
0.00001
|
|
NM_000051.4(ATM):c.7135C>G (p.Leu2379Val)
|
rs778888033
|
0.00001
|
|
NM_000051.4(ATM):c.7156G>C (p.Ala2386Pro)
|
rs876659392
|
0.00001
|
|
NM_000051.4(ATM):c.717C>T (p.Phe239=)
|
rs779410490
|
0.00001
|
|
NM_000051.4(ATM):c.7189C>G (p.Gln2397Glu)
|
rs747372355
|
0.00001
|
|
NM_000051.4(ATM):c.72+1G>A
|
rs786204088
|
0.00001
|
|
NM_000051.4(ATM):c.7209C>T (p.Asn2403=)
|
rs373662499
|
0.00001
|
|
NM_000051.4(ATM):c.7221A>G (p.Ser2407=)
|
rs786201881
|
0.00001
|
|
NM_000051.4(ATM):c.7264G>A (p.Glu2422Lys)
|
rs1163371592
|
0.00001
|
|
NM_000051.4(ATM):c.7266G>A (p.Glu2422=)
|
rs876659834
|
0.00001
|
|
NM_000051.4(ATM):c.7289A>G (p.His2430Arg)
|
rs786202856
|
0.00001
|
|
NM_000051.4(ATM):c.728T>C (p.Leu243Ser)
|
rs786202096
|
0.00001
|
|
NM_000051.4(ATM):c.7291A>G (p.Lys2431Glu)
|
rs864622563
|
0.00001
|
|
NM_000051.4(ATM):c.7302A>T (p.Thr2434=)
|
rs752125292
|
0.00001
|
|
NM_000051.4(ATM):c.7308-20C>T
|
rs778603753
|
0.00001
|
|
NM_000051.4(ATM):c.7314A>C (p.Thr2438=)
|
rs199909913
|
0.00001
|
|
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala)
|
rs776266049
|
0.00001
|
|
NM_000051.4(ATM):c.7317A>G (p.Val2439=)
|
rs878853542
|
0.00001
|
|
NM_000051.4(ATM):c.7320G>C (p.Lys2440Asn)
|
rs751537332
|
0.00001
|
|
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln)
|
rs587782310
|
0.00001
|
|
NM_000051.4(ATM):c.7354C>G (p.Leu2452Val)
|
rs587779863
|
0.00001
|
|
NM_000051.4(ATM):c.7357C>T (p.Arg2453Cys)
|
rs755418571
|
0.00001
|
|
NM_000051.4(ATM):c.7359T>G (p.Arg2453=)
|
rs786201541
|
0.00001
|
|
NM_000051.4(ATM):c.7363C>T (p.Leu2455=)
|
rs147665149
|
0.00001
|
|
NM_000051.4(ATM):c.7371G>A (p.Glu2457=)
|
rs1454725863
|
0.00001
|
|
NM_000051.4(ATM):c.7382G>A (p.Arg2461His)
|
rs768461085
|
0.00001
|
|
NM_000051.4(ATM):c.7383C>T (p.Arg2461=)
|
rs1429991894
|
0.00001
|
|
NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu)
|
rs1324075885
|
0.00001
|
|
NM_000051.4(ATM):c.7399G>A (p.Val2467Ile)
|
rs769722643
|
0.00001
|
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
|
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter)
|
rs773516672
|
0.00001
|
|
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)
|
rs587779865
|
0.00001
|
|
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)
|
rs774281788
|
0.00001
|
|
NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe)
|
rs753262623
|
0.00001
|
|
NM_000051.4(ATM):c.7484C>T (p.Ser2495Phe)
|
rs1449747119
|
0.00001
|
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
|
NM_000051.4(ATM):c.7509G>A (p.Met2503Ile)
|
rs1266101531
|
0.00001
|
|
NM_000051.4(ATM):c.7522G>A (p.Gly2508Arg)
|
rs754395517
|
0.00001
|
|
NM_000051.4(ATM):c.7531A>T (p.Ile2511Phe)
|
rs146069748
|
0.00001
|
|
NM_000051.4(ATM):c.753G>A (p.Val251=)
|
rs876658806
|
0.00001
|
|
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)
|
rs777925486
|
0.00001
|
|
NM_000051.4(ATM):c.7545A>G (p.Lys2515=)
|
rs1467809725
|
0.00001
|
|
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg)
|
rs587782692
|
0.00001
|
|
NM_000051.4(ATM):c.7566A>G (p.Gln2522=)
|
rs775621333
|
0.00001
|
|
NM_000051.4(ATM):c.7598G>A (p.Gly2533Glu)
|
rs864622688
|
0.00001
|
|
NM_000051.4(ATM):c.7620C>A (p.Val2540=)
|
rs863224298
|
0.00001
|
|
NM_000051.4(ATM):c.7620C>T (p.Val2540=)
|
rs863224298
|
0.00001
|
|
NM_000051.4(ATM):c.7629+2T>C
|
rs786203059
|
0.00001
|
|
NM_000051.4(ATM):c.762A>G (p.Leu254=)
|
rs1313709939
|
0.00001
|
|
NM_000051.4(ATM):c.7630-15G>T
|
rs773603597
|
0.00001
|
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
|
NM_000051.4(ATM):c.7630-4A>G
|
rs1057523067
|
0.00001
|
|
NM_000051.4(ATM):c.76G>C (p.Glu26Gln)
|
rs730881361
|
0.00001
|
|
NM_000051.4(ATM):c.7716G>C (p.Leu2572=)
|
rs763730344
|
0.00001
|
|
NM_000051.4(ATM):c.7744A>G (p.Arg2582Gly)
|
rs750224234
|
0.00001
|
|
NM_000051.4(ATM):c.7788+7G>A
|
rs749610251
|
0.00001
|
|
NM_000051.4(ATM):c.7821T>C (p.Cys2607=)
|
rs771607956
|
0.00001
|
|
NM_000051.4(ATM):c.7865C>G (p.Ala2622Gly)
|
rs766351395
|
0.00001
|
|
NM_000051.4(ATM):c.7871G>C (p.Cys2624Ser)
|
rs759392666
|
0.00001
|
|
NM_000051.4(ATM):c.787C>T (p.Leu263Phe)
|
rs876659531
|
0.00001
|
|
NM_000051.4(ATM):c.78A>T (p.Glu26Asp)
|
rs786202953
|
0.00001
|
|
NM_000051.4(ATM):c.7905C>T (p.Ala2635=)
|
rs757829783
|
0.00001
|
|
NM_000051.4(ATM):c.7912T>G (p.Trp2638Gly)
|
rs563137460
|
0.00001
|
|
NM_000051.4(ATM):c.7928-6A>T
|
rs373509918
|
0.00001
|
|
NM_000051.4(ATM):c.7957A>T (p.Ile2653Phe)
|
rs747448699
|
0.00001
|
|
NM_000051.4(ATM):c.7974T>C (p.Asn2658=)
|
rs777548685
|
0.00001
|
|
NM_000051.4(ATM):c.7996A>G (p.Thr2666Ala)
|
rs745775382
|
0.00001
|
|
NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn)
|
rs730881384
|
0.00001
|
|
NM_000051.4(ATM):c.79G>A (p.Val27Ile)
|
rs754770960
|
0.00001
|
|
NM_000051.4(ATM):c.8000T>C (p.Met2667Thr)
|
rs1060501566
|
0.00001
|
|
NM_000051.4(ATM):c.8010G>A (p.Lys2670=)
|
rs1013244700
|
0.00001
|
|
NM_000051.4(ATM):c.8011-18T>C
|
rs768522292
|
0.00001
|
|
NM_000051.4(ATM):c.8019C>T (p.His2673=)
|
rs1181283176
|
0.00001
|
|
NM_000051.4(ATM):c.8026G>A (p.Glu2676Lys)
|
rs786202859
|
0.00001
|
|
NM_000051.4(ATM):c.8032G>A (p.Gly2678Arg)
|
rs766730487
|
0.00001
|
|
NM_000051.4(ATM):c.8047A>G (p.Ile2683Val)
|
rs587781344
|
0.00001
|
|
NM_000051.4(ATM):c.804A>G (p.Gln268=)
|
rs2079766818
|
0.00001
|
|
NM_000051.4(ATM):c.8072G>A (p.Arg2691His)
|
rs876658385
|
0.00001
|
|
NM_000051.4(ATM):c.8109T>C (p.Asp2703=)
|
rs201689025
|
0.00001
|
|
NM_000051.4(ATM):c.8112T>C (p.Cys2704=)
|
rs786201543
|
0.00001
|
|
NM_000051.4(ATM):c.811C>A (p.Leu271Ile)
|
rs730881339
|
0.00001
|
|
NM_000051.4(ATM):c.8152-17G>A
|
rs368924012
|
0.00001
|
|
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys)
|
rs138526014
|
0.00001
|
|
NM_000051.4(ATM):c.8178T>C (p.Ala2726=)
|
rs367575159
|
0.00001
|
|
NM_000051.4(ATM):c.8193C>T (p.Val2731=)
|
rs1060504307
|
0.00001
|
|
NM_000051.4(ATM):c.8199G>A (p.Gln2733=)
|
rs770552705
|
0.00001
|
|
NM_000051.4(ATM):c.8213T>G (p.Leu2738Ter)
|
rs773889320
|
0.00001
|
|
NM_000051.4(ATM):c.8217G>A (p.Leu2739=)
|
rs759069006
|
0.00001
|
|
NM_000051.4(ATM):c.8228C>T (p.Thr2743Met)
|
rs730881321
|
0.00001
|
|
NM_000051.4(ATM):c.8229G>A (p.Thr2743=)
|
rs150603052
|
0.00001
|
|
NM_000051.4(ATM):c.8254A>G (p.Ile2752Val)
|
rs1215163673
|
0.00001
|
|
NM_000051.4(ATM):c.8261C>T (p.Thr2754Ile)
|
rs587779871
|
0.00001
|
|
NM_000051.4(ATM):c.8265T>C (p.Tyr2755=)
|
rs758654836
|
0.00001
|
|
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)
|
rs371638537
|
0.00001
|
|
NM_000051.4(ATM):c.8268+13A>T
|
rs1400036072
|
0.00001
|
|
NM_000051.4(ATM):c.8269G>A (p.Val2757Met)
|
rs761625350
|
0.00001
|
|
NM_000051.4(ATM):c.8288G>A (p.Arg2763Gln)
|
rs551411717
|
0.00001
|
|
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser)
|
rs748634900
|
0.00001
|
|
NM_000051.4(ATM):c.829G>T (p.Glu277Ter)
|
rs876660933
|
0.00001
|
|
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)
|
rs778269655
|
0.00001
|
|
NM_000051.4(ATM):c.8314G>A (p.Gly2772Arg)
|
rs1064794239
|
0.00001
|
|
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr)
|
rs746475628
|
0.00001
|
|
NM_000051.4(ATM):c.834C>T (p.Val278=)
|
rs2079769316
|
0.00001
|
|
NM_000051.4(ATM):c.8355T>C (p.Asp2785=)
|
rs372834825
|
0.00001
|
|
NM_000051.4(ATM):c.8385T>C (p.Asp2795=)
|
rs1251164631
|
0.00001
|
|
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp)
|
rs772992098
|
0.00001
|
|
NM_000051.4(ATM):c.8461A>G (p.Met2821Val)
|
rs876660081
|
0.00001
|
|
NM_000051.4(ATM):c.8466T>C (p.Asp2822=)
|
rs1057523224
|
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.8545C>T (p.Arg2849Ter)
|
rs587778080
|
0.00001
|
|
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro)
|
rs587782202
|
0.00001
|
|
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)
|
rs876658716
|
0.00001
|
|
NM_000051.4(ATM):c.8574T>C (p.Thr2858=)
|
rs786203415
|
0.00001
|
|
NM_000051.4(ATM):c.8581A>G (p.Ile2861Val)
|
rs1555138472
|
0.00001
|
|
NM_000051.4(ATM):c.8584+2T>C
|
rs730881326
|
0.00001
|
|
NM_000051.4(ATM):c.858A>G (p.Gln286=)
|
rs145301478
|
0.00001
|
|
NM_000051.4(ATM):c.8593A>G (p.Ile2865Val)
|
rs786202223
|
0.00001
|
|
NM_000051.4(ATM):c.8595A>T (p.Ile2865=)
|
rs777245630
|
0.00001
|
|
NM_000051.4(ATM):c.8615_8616del (p.His2872fs)
|
rs1232259438
|
0.00001
|
|
NM_000051.4(ATM):c.8656G>A (p.Val2886Ile)
|
rs1064795066
|
0.00001
|
|
NM_000051.4(ATM):c.8666A>G (p.Asp2889Gly)
|
rs876658236
|
0.00001
|
|
NM_000051.4(ATM):c.8672-3T>C
|
rs1060501550
|
0.00001
|
|
NM_000051.4(ATM):c.8672G>A (p.Gly2891Asp)
|
rs748192003
|
0.00001
|
|
NM_000051.4(ATM):c.8676T>A (p.Val2892=)
|
rs1401097446
|
0.00001
|
|
NM_000051.4(ATM):c.8709T>C (p.Pro2903=)
|
rs773208089
|
0.00001
|
|
NM_000051.4(ATM):c.8716G>A (p.Val2906Ile)
|
rs587780643
|
0.00001
|
|
NM_000051.4(ATM):c.8730C>G (p.Leu2910=)
|
rs551041839
|
0.00001
|
|
NM_000051.4(ATM):c.8741T>C (p.Ile2914Thr)
|
rs780303327
|
0.00001
|
|
NM_000051.4(ATM):c.8742T>G (p.Ile2914Met)
|
rs587782264
|
0.00001
|
|
NM_000051.4(ATM):c.8751C>T (p.Gly2917=)
|
rs779858366
|
0.00001
|
|
NM_000051.4(ATM):c.8752A>T (p.Met2918Leu)
|
rs1555142873
|
0.00001
|
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
|
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met)
|
rs730881329
|
0.00001
|
|
NM_000051.4(ATM):c.876G>A (p.Pro292=)
|
rs755860432
|
0.00001
|
|
NM_000051.4(ATM):c.8786+1G>T
|
rs17174393
|
0.00001
|
|
NM_000051.4(ATM):c.8787-14G>A
|
rs994348665
|
0.00001
|
|
NM_000051.4(ATM):c.8787-15T>C
|
rs1057521788
|
0.00001
|
|
NM_000051.4(ATM):c.8805G>A (p.Met2935Ile)
|
rs772621438
|
0.00001
|
|
NM_000051.4(ATM):c.8806G>C (p.Glu2936Gln)
|
rs1060501537
|
0.00001
|
|
NM_000051.4(ATM):c.8810T>C (p.Val2937Ala)
|
rs587782149
|
0.00001
|
|
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs)
|
rs758814126
|
0.00001
|
|
NM_000051.4(ATM):c.8820C>T (p.Asn2940=)
|
rs775823407
|
0.00001
|
|
NM_000051.4(ATM):c.8844T>C (p.Ile2948=)
|
rs878853551
|
0.00001
|
|
NM_000051.4(ATM):c.8847A>G (p.Val2949=)
|
rs876658820
|
0.00001
|
|
NM_000051.4(ATM):c.884C>A (p.Ala295Asp)
|
rs1044092081
|
0.00001
|
|
NM_000051.4(ATM):c.8850+10T>C
|
rs762487236
|
0.00001
|
|
NM_000051.4(ATM):c.8851-8C>T
|
rs768937303
|
0.00001
|
|
NM_000051.4(ATM):c.8859A>G (p.Leu2953=)
|
rs773994431
|
0.00001
|
|
NM_000051.4(ATM):c.8871C>G (p.Leu2957=)
|
rs1555151266
|
0.00001
|
|
NM_000051.4(ATM):c.8902T>C (p.Leu2968=)
|
rs775313366
|
0.00001
|
|
NM_000051.4(ATM):c.8915A>G (p.Gln2972Arg)
|
rs763773991
|
0.00001
|
|
NM_000051.4(ATM):c.8922G>A (p.Pro2974=)
|
rs527248759
|
0.00001
|
|
NM_000051.4(ATM):c.8938C>A (p.Leu2980Ile)
|
rs786203721
|
0.00001
|
|
NM_000051.4(ATM):c.8940T>G (p.Leu2980=)
|
rs576335919
|
0.00001
|
|
NM_000051.4(ATM):c.8955T>C (p.Asn2985=)
|
rs755561691
|
0.00001
|
|
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu)
|
rs147695170
|
0.00001
|
|
NM_000051.4(ATM):c.8978G>A (p.Arg2993Gln)
|
rs587778081
|
0.00001
|
|
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile)
|
rs142322668
|
0.00001
|
|
NM_000051.4(ATM):c.8987+3G>A
|
rs56360226
|
0.00001
|
|
NM_000051.4(ATM):c.8988-1G>C
|
rs730881386
|
0.00001
|
|
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr)
|
rs778670498
|
0.00001
|
|
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)
|
rs587781698
|
0.00001
|
|
NM_000051.4(ATM):c.901+7A>G
|
rs1057523569
|
0.00001
|
|
NM_000051.4(ATM):c.902-1G>T
|
rs1064793518
|
0.00001
|
|
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
|
NM_000051.4(ATM):c.9041A>G (p.Gln3014Arg)
|
rs1064793579
|
0.00001
|
|
NM_000051.4(ATM):c.9049C>T (p.Leu3017=)
|
rs876658991
|
0.00001
|
|
NM_000051.4(ATM):c.9060G>T (p.Val3020=)
|
rs864622625
|
0.00001
|
|
NM_000051.4(ATM):c.9087T>G (p.Gly3029=)
|
rs759675675
|
0.00001
|
|
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)
|
rs121434219
|
0.00001
|
|
NM_000051.4(ATM):c.9142C>G (p.Leu3048Val)
|
rs876660534
|
0.00001
|
|
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu)
|
rs371767164
|
0.00001
|
|
NM_000051.4(ATM):c.931A>G (p.Ile311Val)
|
rs876658322
|
0.00001
|
|
NM_000051.4(ATM):c.943_944del (p.Leu315fs)
|
rs768024233
|
0.00001
|
|
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)
|
rs148061139
|
0.00001
|
|
NM_000051.4(ATM):c.958G>A (p.Val320Met)
|
rs1060501655
|
0.00001
|
|
NM_000051.4(ATM):c.967A>G (p.Ile323Val)
|
rs587781511
|
0.00001
|
|
NM_000051.4(ATM):c.977T>C (p.Ile326Thr)
|
rs768720856
|
0.00001
|
|
NM_000051.4(ATM):c.97C>T (p.Leu33=)
|
rs1057522542
|
0.00001
|
|
NM_000051.4(ATM):c.989G>C (p.Gly330Ala)
|
rs762179829
|
0.00001
|
|
NM_000051.4(ATM):c.993G>A (p.Lys331=)
|
rs786202048
|
0.00001
|
|
NM_000051.4(ATM):c.996T>C (p.Tyr332=)
|
rs1476261420
|
0.00001
|
|
NM_000059.4(BRCA2):c.10006A>G (p.Ser3336Gly)
|
rs1311718055
|
0.00001
|
|
NM_000059.4(BRCA2):c.10054C>G (p.Leu3352Val)
|
rs1475702169
|
0.00001
|
|
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
|
NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=)
|
rs779075029
|
0.00001
|
|
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)
|
rs397507568
|
0.00001
|
|
NM_000059.4(BRCA2):c.107C>T (p.Ser36Phe)
|
rs730881554
|
0.00001
|
|
NM_000059.4(BRCA2):c.1124C>T (p.Pro375Leu)
|
rs80358409
|
0.00001
|
|
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln)
|
rs371454630
|
0.00001
|
|
NM_000059.4(BRCA2):c.1159G>T (p.Val387Phe)
|
rs869320791
|
0.00001
|
|
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=)
|
rs786201237
|
0.00001
|
|
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val)
|
rs760559435
|
0.00001
|
|
NM_000059.4(BRCA2):c.1800T>A (p.Tyr600Ter)
|
rs80358464
|
0.00001
|
|
NM_000059.4(BRCA2):c.1810A>G (p.Lys604Glu)
|
rs80358467
|
0.00001
|
|
NM_000059.4(BRCA2):c.1818G>A (p.Pro606=)
|
rs76844014
|
0.00001
|
|
NM_000059.4(BRCA2):c.181C>G (p.Leu61Val)
|
rs771011731
|
0.00001
|
|
NM_000059.4(BRCA2):c.1970T>A (p.Leu657Ter)
|
rs397507279
|
0.00001
|
|
NM_000059.4(BRCA2):c.2092del (p.Leu698fs)
|
rs80359322
|
0.00001
|
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
|
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=)
|
rs554040246
|
0.00001
|
|
NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser)
|
rs276174818
|
0.00001
|
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
|
NM_000059.4(BRCA2):c.2287C>G (p.His763Asp)
|
rs863224585
|
0.00001
|
|
NM_000059.4(BRCA2):c.232C>T (p.Pro78Ser)
|
rs398122745
|
0.00001
|
|
NM_000059.4(BRCA2):c.2330A>G (p.Asp777Gly)
|
rs780489283
|
0.00001
|
|
NM_000059.4(BRCA2):c.2366A>G (p.Lys789Arg)
|
rs587782062
|
0.00001
|
|
NM_000059.4(BRCA2):c.240A>G (p.Ile80Met)
|
rs80358505
|
0.00001
|
|
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)
|
rs56404215
|
0.00001
|
|
NM_000059.4(BRCA2):c.2444T>C (p.Met815Thr)
|
rs1303254121
|
0.00001
|
|
NM_000059.4(BRCA2):c.2599A>G (p.Thr867Ala)
|
rs80358522
|
0.00001
|
|
NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter)
|
rs397507634
|
0.00001
|
|
NM_000059.4(BRCA2):c.2817C>T (p.Thr939=)
|
rs367921107
|
0.00001
|
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
|
NM_000059.4(BRCA2):c.2838T>G (p.Asp946Glu)
|
rs149753706
|
0.00001
|
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
rs397507295
|
0.00001
|
|
NM_000059.4(BRCA2):c.2920G>A (p.Asp974Asn)
|
rs539613324
|
0.00001
|
|
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met)
|
rs80358541
|
0.00001
|
|
NM_000059.4(BRCA2):c.2957_2958insG (p.Asn986fs)
|
rs1555282969
|
0.00001
|
|
NM_000059.4(BRCA2):c.298A>G (p.Lys100Glu)
|
rs80358546
|
0.00001
|
|
NM_000059.4(BRCA2):c.301T>C (p.Phe101Leu)
|
rs2072290175
|
0.00001
|
|
NM_000059.4(BRCA2):c.3085A>G (p.Met1029Val)
|
rs80358553
|
0.00001
|
|
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter)
|
rs80358556
|
0.00001
|
|
NM_000059.4(BRCA2):c.3158T>G (p.Leu1053Ter)
|
rs41293477
|
0.00001
|
|
NM_000059.4(BRCA2):c.3188A>G (p.Gln1063Arg)
|
rs775030825
|
0.00001
|
|
NM_000059.4(BRCA2):c.3220A>T (p.Ser1074Cys)
|
rs145605603
|
0.00001
|
|
NM_000059.4(BRCA2):c.3227T>C (p.Val1076Ala)
|
rs1060502498
|
0.00001
|
|
NM_000059.4(BRCA2):c.3264_3265insTT (p.Gln1089fs)
|
rs80359380
|
0.00001
|
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
|
NM_000059.4(BRCA2):c.3309A>G (p.Leu1103=)
|
rs786203980
|
0.00001
|
|
NM_000059.4(BRCA2):c.3450dup (p.Ile1151fs)
|
rs397507668
|
0.00001
|
|
NM_000059.4(BRCA2):c.34T>G (p.Phe12Val)
|
rs80358597
|
0.00001
|
|
NM_000059.4(BRCA2):c.3767A>C (p.His1256Pro)
|
rs80358618
|
0.00001
|
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
0.00001
|
|
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)
|
rs80358624
|
0.00001
|
|
NM_000059.4(BRCA2):c.3820_3823del (p.Phe1273_Lys1274insTer)
|
rs730881620
|
0.00001
|
|
NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter)
|
rs80358631
|
0.00001
|
|
NM_000059.4(BRCA2):c.3893T>C (p.Ile1298Thr)
|
rs80358633
|
0.00001
|
|
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter)
|
rs80358648
|
0.00001
|
|
NM_000059.4(BRCA2):c.413G>T (p.Cys138Phe)
|
rs397507324
|
0.00001
|
|
NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser)
|
rs431825318
|
0.00001
|
|
NM_000059.4(BRCA2):c.4244A>G (p.Glu1415Gly)
|
rs1060502399
|
0.00001
|
|
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn)
|
rs397507713
|
0.00001
|
|
NM_000059.4(BRCA2):c.4277C>T (p.Thr1426Ile)
|
rs748591104
|
0.00001
|
|
NM_000059.4(BRCA2):c.428C>G (p.Pro143Arg)
|
rs587782795
|
0.00001
|
|
NM_000059.4(BRCA2):c.4372C>T (p.His1458Tyr)
|
rs80358672
|
0.00001
|
|
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser)
|
rs117187202
|
0.00001
|
|
NM_000059.4(BRCA2):c.442T>C (p.Cys148Arg)
|
rs80358677
|
0.00001
|
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
rs80358679
|
0.00001
|
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
|
NM_000059.4(BRCA2):c.4574A>C (p.His1525Pro)
|
rs397507336
|
0.00001
|
|
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)
|
rs80358694
|
0.00001
|
|
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter)
|
rs80358695
|
0.00001
|
|
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr)
|
rs377639990
|
0.00001
|
|
NM_000059.4(BRCA2):c.4685A>C (p.Gln1562Pro)
|
rs544688816
|
0.00001
|
|
NM_000059.4(BRCA2):c.4689G>A (p.Trp1563Ter)
|
rs886038108
|
0.00001
|
|
NM_000059.4(BRCA2):c.4796A>G (p.Asn1599Ser)
|
rs149759218
|
0.00001
|
|
NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter)
|
rs80358711
|
0.00001
|
|
NM_000059.4(BRCA2):c.489T>G (p.Ser163Arg)
|
rs398122787
|
0.00001
|
|
NM_000059.4(BRCA2):c.489_490insG (p.Leu164fs)
|
rs120074205
|
0.00001
|
|
NM_000059.4(BRCA2):c.497A>T (p.His166Leu)
|
rs876658364
|
0.00001
|
|
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=)
|
rs762458631
|
0.00001
|
|
NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln)
|
rs41293467
|
0.00001
|
|
NM_000059.4(BRCA2):c.5120C>T (p.Thr1707Ile)
|
rs786202354
|
0.00001
|
|
NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs)
|
rs80359490
|
0.00001
|
|
NM_000059.4(BRCA2):c.5188A>T (p.Asn1730Tyr)
|
rs397507770
|
0.00001
|
|
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)
|
rs756463217
|
0.00001
|
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
|
NM_000059.4(BRCA2):c.5278T>G (p.Ser1760Ala)
|
rs28897735
|
0.00001
|
|
NM_000059.4(BRCA2):c.5286T>G (p.Tyr1762Ter)
|
rs80358754
|
0.00001
|
|
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)
|
rs80358767
|
0.00001
|
|
NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe)
|
rs779967765
|
0.00001
|
|
NM_000059.4(BRCA2):c.5624A>C (p.Lys1875Thr)
|
rs587782583
|
0.00001
|
|
NM_000059.4(BRCA2):c.562G>A (p.Val188Met)
|
rs1555281063
|
0.00001
|
|
NM_000059.4(BRCA2):c.5652T>C (p.Ile1884=)
|
rs766067138
|
0.00001
|
|
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val)
|
rs397507360
|
0.00001
|
|
NM_000059.4(BRCA2):c.5683G>A (p.Glu1895Lys)
|
rs146351301
|
0.00001
|
|
NM_000059.4(BRCA2):c.5753A>G (p.His1918Arg)
|
rs80358804
|
0.00001
|
|
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)
|
rs80359541
|
0.00001
|
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
rs80358814
|
0.00001
|
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
|
NM_000059.4(BRCA2):c.595G>A (p.Ala199Thr)
|
rs376582345
|
0.00001
|
|
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile)
|
rs28897739
|
0.00001
|
|
NM_000059.4(BRCA2):c.6065C>G (p.Ser2022Ter)
|
rs80358843
|
0.00001
|
|
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val)
|
rs56191579
|
0.00001
|
|
NM_000059.4(BRCA2):c.620C>T (p.Thr207Ile)
|
rs41293471
|
0.00001
|
|
NM_000059.4(BRCA2):c.6235del (p.Val2079fs)
|
rs397507835
|
0.00001
|
|
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=)
|
rs750651726
|
0.00001
|
|
NM_000059.4(BRCA2):c.6287C>G (p.Pro2096Arg)
|
rs587781396
|
0.00001
|
|
NM_000059.4(BRCA2):c.631+2T>G
|
rs81002899
|
0.00001
|
|
NM_000059.4(BRCA2):c.632-3C>G
|
rs568027879
|
0.00001
|
|
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)
|
rs80358880
|
0.00001
|
|
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu)
|
rs276174873
|
0.00001
|
|
NM_000059.4(BRCA2):c.6467C>T (p.Ser2156Phe)
|
rs765575482
|
0.00001
|
|
NM_000059.4(BRCA2):c.6582T>C (p.Ile2194=)
|
rs1178835711
|
0.00001
|
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
rs431825344
|
0.00001
|
|
NM_000059.4(BRCA2):c.6638C>T (p.Ser2213Phe)
|
rs75925841
|
0.00001
|
|
NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs)
|
rs80359616
|
0.00001
|
|
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile)
|
rs786203098
|
0.00001
|
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
|
NM_000059.4(BRCA2):c.673A>G (p.Thr225Ala)
|
rs80358897
|
0.00001
|
|
NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys)
|
rs730881549
|
0.00001
|
|
NM_000059.4(BRCA2):c.6868T>C (p.Leu2290=)
|
rs876660341
|
0.00001
|
|
NM_000059.4(BRCA2):c.6875A>G (p.Glu2292Gly)
|
rs397507378
|
0.00001
|
|
NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys)
|
rs80358914
|
0.00001
|
|
NM_000059.4(BRCA2):c.694T>C (p.Tyr232His)
|
rs398122572
|
0.00001
|
|
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln)
|
rs80358921
|
0.00001
|
|
NM_000059.4(BRCA2):c.6966G>T (p.Met2322Ile)
|
rs80358924
|
0.00001
|
|
NM_000059.4(BRCA2):c.6986C>T (p.Pro2329Leu)
|
rs80358925
|
0.00001
|
|
NM_000059.4(BRCA2):c.6998dup (p.Pro2334fs)
|
rs754611265
|
0.00001
|
|
NM_000059.4(BRCA2):c.7022G>A (p.Arg2341His)
|
rs786202839
|
0.00001
|
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
|
NM_000059.4(BRCA2):c.7063G>T (p.Glu2355Ter)
|
rs200078639
|
0.00001
|
|
NM_000059.4(BRCA2):c.707A>G (p.His236Arg)
|
rs80358938
|
0.00001
|
|
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys)
|
rs80358940
|
0.00001
|
|
NM_000059.4(BRCA2):c.7111T>C (p.Ser2371Pro)
|
rs374388885
|
0.00001
|
|
NM_000059.4(BRCA2):c.7115C>G (p.Ser2372Ter)
|
rs80358943
|
0.00001
|
|
NM_000059.4(BRCA2):c.712G>C (p.Glu238Gln)
|
rs56383036
|
0.00001
|
|
NM_000059.4(BRCA2):c.714_716dup (p.Glu238_Ser239insArg)
|
rs80359640
|
0.00001
|
|
NM_000059.4(BRCA2):c.7160C>T (p.Ala2387Val)
|
rs587778126
|
0.00001
|
|
NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter)
|
rs80358946
|
0.00001
|
|
NM_000059.4(BRCA2):c.7222C>T (p.Pro2408Ser)
|
rs398122577
|
0.00001
|
|
NM_000059.4(BRCA2):c.7241C>T (p.Ser2414Leu)
|
rs80358951
|
0.00001
|
|
NM_000059.4(BRCA2):c.7307A>T (p.Asn2436Ile)
|
rs80358955
|
0.00001
|
|
NM_000059.4(BRCA2):c.7339A>G (p.Asn2447Asp)
|
rs4986859
|
0.00001
|
|
NM_000059.4(BRCA2):c.7349A>T (p.Asn2450Ile)
|
rs761505767
|
0.00001
|
|
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly)
|
rs80358966
|
0.00001
|
|
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly)
|
rs80358970
|
0.00001
|
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
|
NM_000059.4(BRCA2):c.7488G>C (p.Lys2496Asn)
|
rs774994294
|
0.00001
|
|
NM_000059.4(BRCA2):c.7540A>G (p.Lys2514Glu)
|
rs864622624
|
0.00001
|
|
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)
|
rs80358981
|
0.00001
|
|
NM_000059.4(BRCA2):c.7585G>A (p.Gly2529Ser)
|
rs398122585
|
0.00001
|
|
NM_000059.4(BRCA2):c.7605T>G (p.Cys2535Trp)
|
rs966152147
|
0.00001
|
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
|
NM_000059.4(BRCA2):c.7633G>A (p.Val2545Ile)
|
rs80358990
|
0.00001
|
|
NM_000059.4(BRCA2):c.7637C>T (p.Ser2546Phe)
|
rs398122586
|
0.00001
|
|
NM_000059.4(BRCA2):c.7651A>C (p.Lys2551Gln)
|
rs398122587
|
0.00001
|
|
NM_000059.4(BRCA2):c.7669G>A (p.Ala2557Thr)
|
rs876658624
|
0.00001
|
|
NM_000059.4(BRCA2):c.772C>T (p.Gln258Ter)
|
rs80358998
|
0.00001
|
|
NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter)
|
rs80359003
|
0.00001
|
|
NM_000059.4(BRCA2):c.7769C>G (p.Ser2590Cys)
|
rs786202615
|
0.00001
|
|
NM_000059.4(BRCA2):c.7771A>G (p.Asn2591Asp)
|
rs778060629
|
0.00001
|
|
NM_000059.4(BRCA2):c.7849A>G (p.Arg2617Gly)
|
rs587782588
|
0.00001
|
|
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys)
|
rs431825358
|
0.00001
|
|
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter)
|
rs80359013
|
0.00001
|
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
|
NM_000059.4(BRCA2):c.7882A>G (p.Ile2628Val)
|
rs1483187442
|
0.00001
|
|
NM_000059.4(BRCA2):c.7916C>T (p.Pro2639Leu)
|
rs774723315
|
0.00001
|
|
NM_000059.4(BRCA2):c.793+1G>A
|
rs81002846
|
0.00001
|
|
NM_000059.4(BRCA2):c.793+6T>C
|
rs1222477192
|
0.00001
|
|
NM_000059.4(BRCA2):c.7931A>G (p.Asn2644Ser)
|
rs80359020
|
0.00001
|
|
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)
|
rs80359800
|
0.00001
|
|
NM_000059.4(BRCA2):c.79A>G (p.Ile27Val)
|
rs80359034
|
0.00001
|
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
|
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg)
|
rs587782519
|
0.00001
|
|
NM_000059.4(BRCA2):c.8045C>T (p.Ala2682Val)
|
rs773506092
|
0.00001
|
|
NM_000059.4(BRCA2):c.8050A>G (p.Lys2684Glu)
|
rs1289414853
|
0.00001
|
|
NM_000059.4(BRCA2):c.8061T>C (p.Val2687=)
|
rs776992904
|
0.00001
|
|
NM_000059.4(BRCA2):c.8119A>G (p.Lys2707Glu)
|
rs1046479731
|
0.00001
|
|
NM_000059.4(BRCA2):c.8124T>G (p.Thr2708=)
|
rs587780662
|
0.00001
|
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
|
NM_000059.4(BRCA2):c.8171G>A (p.Gly2724Glu)
|
rs80359063
|
0.00001
|
|
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys)
|
rs80359064
|
0.00001
|
|
NM_000059.4(BRCA2):c.8179G>T (p.Ala2727Ser)
|
rs730881582
|
0.00001
|
|
NM_000059.4(BRCA2):c.8201C>T (p.Pro2734Leu)
|
rs876658732
|
0.00001
|
|
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)
|
rs80359071
|
0.00001
|
|
NM_000059.4(BRCA2):c.8262T>G (p.His2754Gln)
|
rs587776472
|
0.00001
|
|
NM_000059.4(BRCA2):c.8293T>G (p.Cys2765Gly)
|
rs768247528
|
0.00001
|
|
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)
|
rs80359705
|
0.00001
|
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
|
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)
|
rs80359076
|
0.00001
|
|
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys)
|
rs41293517
|
0.00001
|
|
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)
|
rs80359082
|
0.00001
|
|
NM_000059.4(BRCA2):c.8382C>G (p.Phe2794Leu)
|
rs80359084
|
0.00001
|
|
NM_000059.4(BRCA2):c.8414T>C (p.Leu2805Ser)
|
rs397507983
|
0.00001
|
|
NM_000059.4(BRCA2):c.8422C>G (p.Leu2808Val)
|
rs786203867
|
0.00001
|
|
NM_000059.4(BRCA2):c.8428A>G (p.Ser2810Gly)
|
rs80359089
|
0.00001
|
|
NM_000059.4(BRCA2):c.8450G>T (p.Cys2817Phe)
|
rs786201992
|
0.00001
|
|
NM_000059.4(BRCA2):c.8452G>A (p.Val2818Ile)
|
rs80359094
|
0.00001
|
|
NM_000059.4(BRCA2):c.8518A>G (p.Ile2840Val)
|
rs80359103
|
0.00001
|
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
|
NM_000059.4(BRCA2):c.8531A>G (p.Glu2844Gly)
|
rs900871740
|
0.00001
|
|
NM_000059.4(BRCA2):c.8539G>A (p.Glu2847Lys)
|
rs80359108
|
0.00001
|
|
NM_000059.4(BRCA2):c.8551G>T (p.Ala2851Ser)
|
rs876658592
|
0.00001
|
|
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs)
|
rs80359718
|
0.00001
|
|
NM_000059.4(BRCA2):c.8599A>C (p.Thr2867Pro)
|
rs80359119
|
0.00001
|
|
NM_000059.4(BRCA2):c.8663G>A (p.Arg2888His)
|
rs80359124
|
0.00001
|
|
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)
|
rs80359127
|
0.00001
|
|
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys)
|
rs373203204
|
0.00001
|
|
NM_000059.4(BRCA2):c.8708A>G (p.Glu2903Gly)
|
rs730881566
|
0.00001
|
|
NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly)
|
rs80359130
|
0.00001
|
|
NM_000059.4(BRCA2):c.8764A>G (p.Ser2922Gly)
|
rs80359132
|
0.00001
|
|
NM_000059.4(BRCA2):c.8765G>A (p.Ser2922Asn)
|
rs730881567
|
0.00001
|
|
NM_000059.4(BRCA2):c.8782G>T (p.Ala2928Ser)
|
rs587781762
|
0.00001
|
|
NM_000059.4(BRCA2):c.8798G>C (p.Arg2933Thr)
|
rs553440338
|
0.00001
|
|
NM_000059.4(BRCA2):c.8866G>C (p.Glu2956Gln)
|
rs142040996
|
0.00001
|
|
NM_000059.4(BRCA2):c.8894A>G (p.Asp2965Gly)
|
rs767481384
|
0.00001
|
|
NM_000059.4(BRCA2):c.8915T>G (p.Leu2972Trp)
|
rs80359142
|
0.00001
|
|
NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=)
|
rs80359804
|
0.00001
|
|
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)
|
rs80359159
|
0.00001
|
|
NM_000059.4(BRCA2):c.9096A>C (p.Lys3032Asn)
|
rs864622582
|
0.00001
|
|
NM_000059.4(BRCA2):c.909T>G (p.Ser303=)
|
rs757430441
|
0.00001
|
|
NM_000059.4(BRCA2):c.9101A>G (p.Gln3034Arg)
|
rs80359164
|
0.00001
|
|
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu)
|
rs202155613
|
0.00001
|
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
|
NM_000059.4(BRCA2):c.9134T>C (p.Leu3045Ser)
|
rs1205776232
|
0.00001
|
|
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)
|
rs45580035
|
0.00001
|
|
NM_000059.4(BRCA2):c.9198G>C (p.Gln3066His)
|
rs745758977
|
0.00001
|
|
NM_000059.4(BRCA2):c.9249A>T (p.Lys3083Asn)
|
rs80359191
|
0.00001
|
|
NM_000059.4(BRCA2):c.9338T>C (p.Ile3113Thr)
|
rs770003991
|
0.00001
|
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
|
NM_000059.4(BRCA2):c.9396A>G (p.Lys3132=)
|
rs201172050
|
0.00001
|
|
NM_000059.4(BRCA2):c.9403C>T (p.Leu3135Phe)
|
rs55704151
|
0.00001
|
|
NM_000059.4(BRCA2):c.9501+16A>C
|
rs1555289626
|
0.00001
|
|
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly)
|
rs80359224
|
0.00001
|
|
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)
|
rs876658365
|
0.00001
|
|
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe)
|
rs200598289
|
0.00001
|
|
NM_000059.4(BRCA2):c.9539T>C (p.Leu3180Pro)
|
rs397507431
|
0.00001
|
|
NM_000059.4(BRCA2):c.9564T>A (p.Asp3188Glu)
|
rs398122616
|
0.00001
|
|
NM_000059.4(BRCA2):c.959T>C (p.Leu320Pro)
|
rs1334767632
|
0.00001
|
|
NM_000059.4(BRCA2):c.9610A>G (p.Thr3204Ala)
|
rs80359231
|
0.00001
|
|
NM_000059.4(BRCA2):c.9616C>G (p.Gln3206Glu)
|
rs80359233
|
0.00001
|
|
NM_000059.4(BRCA2):c.9648+1G>C
|
rs730881573
|
0.00001
|
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
|
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)
|
rs80359773
|
0.00001
|
|
NM_000059.4(BRCA2):c.9821T>G (p.Leu3274Trp)
|
rs431825380
|
0.00001
|
|
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)
|
rs730881619
|
0.00001
|
|
NM_000059.4(BRCA2):c.9983T>G (p.Phe3328Cys)
|
rs770826575
|
0.00001
|
|
NM_000136.3(FANCC):c.-12G>A
|
rs779454514
|
0.00001
|
|
NM_000136.3(FANCC):c.327A>G (p.Lys109=)
|
rs1399574459
|
0.00001
|
|
NM_000136.3(FANCC):c.510C>T (p.Asn170=)
|
rs777734585
|
0.00001
|
|
NM_000136.3(FANCC):c.650C>T (p.Pro217Leu)
|
rs730881714
|
0.00001
|
|
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg)
|
rs730881717
|
0.00001
|
|
NM_000179.3(MSH6):c.-11C>A
|
rs1225209597
|
0.00001
|
|
NM_000179.3(MSH6):c.1277G>A (p.Cys426Tyr)
|
rs1207702287
|
0.00001
|
|
NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu)
|
rs755847154
|
0.00001
|
|
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)
|
rs63751017
|
0.00001
|
|
NM_000179.3(MSH6):c.2885T>C (p.Ile962Thr)
|
rs778287080
|
0.00001
|
|
NM_000179.3(MSH6):c.3625C>T (p.Leu1209=)
|
rs753675331
|
0.00001
|
|
NM_000179.3(MSH6):c.3879T>C (p.Ala1293=)
|
rs752369374
|
0.00001
|
|
NM_000179.3(MSH6):c.3893A>G (p.Tyr1298Cys)
|
rs786202520
|
0.00001
|
|
NM_000179.3(MSH6):c.417A>G (p.Thr139=)
|
rs758390144
|
0.00001
|
|
NM_000179.3(MSH6):c.533G>A (p.Arg178His)
|
rs786204186
|
0.00001
|
|
NM_000179.3(MSH6):c.667A>G (p.Asn223Asp)
|
rs374041375
|
0.00001
|
|
NM_000179.3(MSH6):c.979A>G (p.Thr327Ala)
|
rs730881814
|
0.00001
|
|
NM_000249.4(MLH1):c.-11C>T
|
rs776898290
|
0.00001
|
|
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)
|
rs63751596
|
0.00001
|
|
NM_000249.4(MLH1):c.1989+12A>G
|
rs755976424
|
0.00001
|
|
NM_000249.4(MLH1):c.380+5A>G
|
rs1267759029
|
0.00001
|
|
NM_000249.4(MLH1):c.545+10A>C
|
rs781569222
|
0.00001
|
|
NM_000249.4(MLH1):c.650G>A (p.Arg217His)
|
rs762099920
|
0.00001
|
|
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)
|
rs761960690
|
0.00001
|
|
NM_000251.3(MSH2):c.1424A>T (p.Asp475Val)
|
rs1349765126
|
0.00001
|
|
NM_000251.3(MSH2):c.1571G>A (p.Arg524His)
|
rs63751207
|
0.00001
|
|
NM_000251.3(MSH2):c.1759+9A>C
|
rs994093288
|
0.00001
|
|
NM_000251.3(MSH2):c.1760-12A>G
|
rs774350590
|
0.00001
|
|
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val)
|
rs748797209
|
0.00001
|
|
NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr)
|
rs564657106
|
0.00001
|
|
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr)
|
rs772662439
|
0.00001
|
|
NM_000251.3(MSH2):c.646-13T>C
|
rs761205332
|
0.00001
|
|
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)
|
rs63751455
|
0.00001
|
|
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser)
|
rs587781294
|
0.00001
|
|
NM_000314.8(PTEN):c.114T>G (p.Pro38=)
|
rs748040144
|
0.00001
|
|
NM_000314.8(PTEN):c.75G>A (p.Leu25=)
|
rs786201506
|
0.00001
|
|
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr)
|
rs368481360
|
0.00001
|
|
NM_000455.5(STK11):c.1101G>A (p.Thr367=)
|
rs750954647
|
0.00001
|
|
NM_000455.5(STK11):c.1150C>T (p.Arg384Trp)
|
rs752015385
|
0.00001
|
|
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg)
|
rs587781633
|
0.00001
|
|
NM_000455.5(STK11):c.462C>T (p.His154=)
|
rs786201418
|
0.00001
|
|
NM_000455.5(STK11):c.465-10C>G
|
rs1060503780
|
0.00001
|
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
0.00001
|
|
NM_000455.5(STK11):c.621C>T (p.Asp207=)
|
rs569380138
|
0.00001
|
|
NM_000455.5(STK11):c.765C>T (p.Phe255=)
|
rs769912677
|
0.00001
|
|
NM_000455.5(STK11):c.882G>A (p.Pro294=)
|
rs587781178
|
0.00001
|
|
NM_000455.5(STK11):c.921-8G>A
|
rs863224362
|
0.00001
|
|
NM_000455.5(STK11):c.976C>A (p.Pro326Thr)
|
rs771632414
|
0.00001
|
|
NM_000465.4(BARD1):c.-26G>A
|
rs1245329214
|
0.00001
|
|
NM_000465.4(BARD1):c.1007G>A (p.Cys336Tyr)
|
rs779527817
|
0.00001
|
|
NM_000465.4(BARD1):c.1009A>G (p.Arg337Gly)
|
rs1016845338
|
0.00001
|
|
NM_000465.4(BARD1):c.1013C>A (p.Thr338Asn)
|
rs587781313
|
0.00001
|
|
NM_000465.4(BARD1):c.1014C>G (p.Thr338=)
|
rs864622443
|
0.00001
|
|
NM_000465.4(BARD1):c.1016G>A (p.Ser339Asn)
|
rs201261729
|
0.00001
|
|
NM_000465.4(BARD1):c.1025G>A (p.Ser342Asn)
|
rs760950550
|
0.00001
|
|
NM_000465.4(BARD1):c.1030A>G (p.Ser344Gly)
|
rs1278959534
|
0.00001
|
|
NM_000465.4(BARD1):c.1032T>A (p.Ser344Arg)
|
rs1060501293
|
0.00001
|
|
NM_000465.4(BARD1):c.1039T>C (p.Phe347Leu)
|
rs1694968070
|
0.00001
|
|
NM_000465.4(BARD1):c.1042G>A (p.Val348Ile)
|
rs1315898207
|
0.00001
|
|
NM_000465.4(BARD1):c.1046A>G (p.Lys349Arg)
|
rs786202282
|
0.00001
|
|
NM_000465.4(BARD1):c.1055T>C (p.Val352Ala)
|
rs773918507
|
0.00001
|
|
NM_000465.4(BARD1):c.1067A>T (p.Asn356Ile)
|
rs577834428
|
0.00001
|
|
NM_000465.4(BARD1):c.1072C>A (p.Pro358Thr)
|
rs769594971
|
0.00001
|
|
NM_000465.4(BARD1):c.1076T>C (p.Leu359Ser)
|
rs745669714
|
0.00001
|
|
NM_000465.4(BARD1):c.1083A>C (p.Glu361Asp)
|
rs778116528
|
0.00001
|
|
NM_000465.4(BARD1):c.1083A>G (p.Glu361=)
|
rs778116528
|
0.00001
|
|
NM_000465.4(BARD1):c.1097C>T (p.Pro366Leu)
|
rs1553622247
|
0.00001
|
|
NM_000465.4(BARD1):c.1109G>A (p.Arg370His)
|
rs730881416
|
0.00001
|
|
NM_000465.4(BARD1):c.110G>C (p.Ser37Thr)
|
rs1283611933
|
0.00001
|
|
NM_000465.4(BARD1):c.1138A>G (p.Asn380Asp)
|
rs876658971
|
0.00001
|
|
NM_000465.4(BARD1):c.1159T>C (p.Phe387Leu)
|
rs759370463
|
0.00001
|
|
NM_000465.4(BARD1):c.115G>A (p.Ala39Thr)
|
rs753630023
|
0.00001
|
|
NM_000465.4(BARD1):c.1160T>G (p.Phe387Cys)
|
rs776631398
|
0.00001
|
|
NM_000465.4(BARD1):c.1161C>A (p.Phe387Leu)
|
rs553790960
|
0.00001
|
|
NM_000465.4(BARD1):c.1172C>A (p.Ser391Ter)
|
rs878853995
|
0.00001
|
|
NM_000465.4(BARD1):c.1180A>G (p.Thr394Ala)
|
rs587782548
|
0.00001
|
|
NM_000465.4(BARD1):c.1182A>G (p.Thr394=)
|
rs780580712
|
0.00001
|
|
NM_000465.4(BARD1):c.1190C>A (p.Ser397Tyr)
|
rs375078644
|
0.00001
|
|
NM_000465.4(BARD1):c.1192A>G (p.Thr398Ala)
|
rs1297661047
|
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.1205C>G (p.Ser402Ter)
|
rs796666047
|
0.00001
|
|
NM_000465.4(BARD1):c.1213A>G (p.Arg405Gly)
|
rs876659886
|
0.00001
|
|
NM_000465.4(BARD1):c.1218A>T (p.Arg406=)
|
rs757900534
|
0.00001
|
|
NM_000465.4(BARD1):c.121C>G (p.Leu41Val)
|
rs751665426
|
0.00001
|
|
NM_000465.4(BARD1):c.1226C>G (p.Ser409Cys)
|
rs786202226
|
0.00001
|
|
NM_000465.4(BARD1):c.1235C>T (p.Ser412Leu)
|
rs876660778
|
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.1244A>C (p.Lys415Thr)
|
rs879254118
|
0.00001
|
|
NM_000465.4(BARD1):c.1248G>T (p.Leu416=)
|
rs1426931125
|
0.00001
|
|
NM_000465.4(BARD1):c.1262C>G (p.Ala421Gly)
|
rs766209380
|
0.00001
|
|
NM_000465.4(BARD1):c.1265T>C (p.Val422Ala)
|
rs76824305
|
0.00001
|
|
NM_000465.4(BARD1):c.1276C>G (p.His426Asp)
|
rs786203499
|
0.00001
|
|
NM_000465.4(BARD1):c.1279_1281del (p.Arg427del)
|
rs1378231954
|
0.00001
|
|
NM_000465.4(BARD1):c.1289C>G (p.Thr430Ser)
|
rs587780015
|
0.00001
|
|
NM_000465.4(BARD1):c.1298A>G (p.His433Arg)
|
rs587781970
|
0.00001
|
|
NM_000465.4(BARD1):c.1300A>T (p.Ile434Phe)
|
rs758049210
|
0.00001
|
|
NM_000465.4(BARD1):c.1305T>G (p.Ala435=)
|
rs372679962
|
0.00001
|
|
NM_000465.4(BARD1):c.1307C>G (p.Ser436Cys)
|
rs752234478
|
0.00001
|
|
NM_000465.4(BARD1):c.1314+13C>T
|
rs371830908
|
0.00001
|
|
NM_000465.4(BARD1):c.1314+15C>G
|
rs772950179
|
0.00001
|
|
NM_000465.4(BARD1):c.1315-11C>T
|
rs1462436388
|
0.00001
|
|
NM_000465.4(BARD1):c.1315-11del
|
rs1064795946
|
0.00001
|
|
NM_000465.4(BARD1):c.1315-20C>T
|
rs778052469
|
0.00001
|
|
NM_000465.4(BARD1):c.1315-21C>A
|
rs747393586
|
0.00001
|
|
NM_000465.4(BARD1):c.1315-2A>G
|
rs1316885634
|
0.00001
|
|
NM_000465.4(BARD1):c.1317C>T (p.Gly439=)
|
rs369986649
|
0.00001
|
|
NM_000465.4(BARD1):c.1319A>T (p.Asp440Val)
|
rs753446928
|
0.00001
|
|
NM_000465.4(BARD1):c.1322T>C (p.Ile441Thr)
|
rs876660006
|
0.00001
|
|
NM_000465.4(BARD1):c.1331T>G (p.Val444Gly)
|
rs1326325978
|
0.00001
|
|
NM_000465.4(BARD1):c.1338C>A (p.Tyr446Ter)
|
rs761702998
|
0.00001
|
|
NM_000465.4(BARD1):c.1340T>C (p.Leu447Pro)
|
rs765495837
|
0.00001
|
|
NM_000465.4(BARD1):c.1346A>G (p.Gln449Arg)
|
rs916069875
|
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.1385G>A (p.Trp462Ter)
|
rs1213894295
|
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.1397A>G (p.His466Arg)
|
rs730881418
|
0.00001
|
|
NM_000465.4(BARD1):c.1418A>C (p.His473Pro)
|
rs1176328026
|
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.1443C>T (p.Leu481=)
|
rs1286691671
|
0.00001
|
|
NM_000465.4(BARD1):c.1448A>G (p.His483Arg)
|
rs587781874
|
0.00001
|
|
NM_000465.4(BARD1):c.1450A>G (p.Lys484Glu)
|
rs1694273552
|
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.1462A>G (p.Asn488Asp)
|
rs876659573
|
0.00001
|
|
NM_000465.4(BARD1):c.1470C>T (p.Thr490=)
|
rs758895846
|
0.00001
|
|
NM_000465.4(BARD1):c.1471G>A (p.Gly491Arg)
|
rs587782003
|
0.00001
|
|
NM_000465.4(BARD1):c.1497C>T (p.His499=)
|
rs760665188
|
0.00001
|
|
NM_000465.4(BARD1):c.1498G>A (p.Asp500Asn)
|
rs779468443
|
0.00001
|
|
NM_000465.4(BARD1):c.1508A>G (p.Lys503Arg)
|
rs775002804
|
0.00001
|
|
NM_000465.4(BARD1):c.1512dup (p.Gly505fs)
|
rs1553619249
|
0.00001
|
|
NM_000465.4(BARD1):c.152C>T (p.Ser51Leu)
|
rs766788652
|
0.00001
|
|
NM_000465.4(BARD1):c.1535T>C (p.Leu512Pro)
|
rs786201769
|
0.00001
|
|
NM_000465.4(BARD1):c.1540C>G (p.Leu514Val)
|
rs587780016
|
0.00001
|
|
NM_000465.4(BARD1):c.1542T>G (p.Leu514=)
|
rs770358347
|
0.00001
|
|
NM_000465.4(BARD1):c.1543T>C (p.Ser515Pro)
|
rs876659146
|
0.00001
|
|
NM_000465.4(BARD1):c.1544C>G (p.Ser515Cys)
|
rs746878509
|
0.00001
|
|
NM_000465.4(BARD1):c.155G>A (p.Arg52His)
|
rs574257684
|
0.00001
|
|
NM_000465.4(BARD1):c.1568+10T>G
|
rs1375582645
|
0.00001
|
|
NM_000465.4(BARD1):c.1568+20A>C
|
rs753176677
|
0.00001
|
|
NM_000465.4(BARD1):c.1568+3A>G
|
rs1280734884
|
0.00001
|
|
NM_000465.4(BARD1):c.1568+4A>G
|
rs781268123
|
0.00001
|
|
NM_000465.4(BARD1):c.1569-16G>A
|
rs781375440
|
0.00001
|
|
NM_000465.4(BARD1):c.1569-9T>C
|
rs753153934
|
0.00001
|
|
NM_000465.4(BARD1):c.1571A>G (p.Asn524Ser)
|
rs587781887
|
0.00001
|
|
NM_000465.4(BARD1):c.157T>A (p.Cys53Ser)
|
rs1354779388
|
0.00001
|
|
NM_000465.4(BARD1):c.158+13C>T
|
rs1696451106
|
0.00001
|
|
NM_000465.4(BARD1):c.158+20G>A
|
rs1057520824
|
0.00001
|
|
NM_000465.4(BARD1):c.158+9G>A
|
rs1574868837
|
0.00001
|
|
NM_000465.4(BARD1):c.1583T>C (p.Leu528Pro)
|
rs1301755370
|
0.00001
|
|
NM_000465.4(BARD1):c.1594G>A (p.Asp532Asn)
|
rs757281184
|
0.00001
|
|
NM_000465.4(BARD1):c.15G>C (p.Arg5=)
|
rs769204862
|
0.00001
|
|
NM_000465.4(BARD1):c.1601C>T (p.Thr534Ile)
|
rs374293292
|
0.00001
|
|
NM_000465.4(BARD1):c.1614T>C (p.Ser538=)
|
rs781448650
|
0.00001
|
|
NM_000465.4(BARD1):c.1615A>G (p.Met539Val)
|
rs587782009
|
0.00001
|
|
NM_000465.4(BARD1):c.161C>G (p.Thr54Ser)
|
rs879253878
|
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.1652C>G (p.Ser551Ter)
|
rs587781707
|
0.00001
|
|
NM_000465.4(BARD1):c.1672T>C (p.Ser558Pro)
|
rs587782122
|
0.00001
|
|
NM_000465.4(BARD1):c.1677+17C>T
|
rs774325249
|
0.00001
|
|
NM_000465.4(BARD1):c.1677+6T>A
|
rs1400074259
|
0.00001
|
|
NM_000465.4(BARD1):c.1678-17T>G
|
rs1327957395
|
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.16C>T (p.Gln6Ter)
|
rs876658234
|
0.00001
|
|
NM_000465.4(BARD1):c.1701T>C (p.Asp567=)
|
rs1191401261
|
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.1721G>T (p.Gly574Val)
|
rs1218730514
|
0.00001
|
|
NM_000465.4(BARD1):c.1729C>T (p.Leu577=)
|
rs749756887
|
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.1751T>C (p.Met584Thr)
|
rs1392588415
|
0.00001
|
|
NM_000465.4(BARD1):c.1757G>T (p.Ser586Ile)
|
rs369756202
|
0.00001
|
|
NM_000465.4(BARD1):c.1761G>C (p.Glu587Asp)
|
rs1060501284
|
0.00001
|
|
NM_000465.4(BARD1):c.1765G>T (p.Ala589Ser)
|
rs547417612
|
0.00001
|
|
NM_000465.4(BARD1):c.1780G>T (p.Ala594Ser)
|
rs1036544558
|
0.00001
|
|
NM_000465.4(BARD1):c.1790A>G (p.Tyr597Cys)
|
rs757953605
|
0.00001
|
|
NM_000465.4(BARD1):c.1791T>C (p.Tyr597=)
|
rs1356036720
|
0.00001
|
|
NM_000465.4(BARD1):c.1792A>G (p.Thr598Ala)
|
rs752628149
|
0.00001
|
|
NM_000465.4(BARD1):c.1802A>G (p.Asp601Gly)
|
rs767765131
|
0.00001
|
|
NM_000465.4(BARD1):c.1804A>T (p.Ser602Cys)
|
rs1437928909
|
0.00001
|
|
NM_000465.4(BARD1):c.1808C>A (p.Thr603Lys)
|
rs730881421
|
0.00001
|
|
NM_000465.4(BARD1):c.1810+3G>A
|
rs1310430913
|
0.00001
|
|
NM_000465.4(BARD1):c.1811-17C>G
|
rs1382267929
|
0.00001
|
|
NM_000465.4(BARD1):c.1811-7A>G
|
rs864622487
|
0.00001
|
|
NM_000465.4(BARD1):c.1817_1818del (p.His606fs)
|
rs587782897
|
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.1844A>G (p.Gln615Arg)
|
rs764418221
|
0.00001
|
|
NM_000465.4(BARD1):c.1847G>A (p.Ser616Asn)
|
rs1475259063
|
0.00001
|
|
NM_000465.4(BARD1):c.185G>C (p.Cys62Ser)
|
rs768089548
|
0.00001
|
|
NM_000465.4(BARD1):c.1868G>A (p.Gly623Glu)
|
rs587782252
|
0.00001
|
|
NM_000465.4(BARD1):c.1881A>C (p.Gly627=)
|
rs968535447
|
0.00001
|
|
NM_000465.4(BARD1):c.1882T>C (p.Cys628Arg)
|
rs140642433
|
0.00001
|
|
NM_000465.4(BARD1):c.1883G>T (p.Cys628Phe)
|
rs1227794803
|
0.00001
|
|
NM_000465.4(BARD1):c.188T>C (p.Leu63Ser)
|
rs748828467
|
0.00001
|
|
NM_000465.4(BARD1):c.1904-10T>G
|
rs768259863
|
0.00001
|
|
NM_000465.4(BARD1):c.1904-12T>G
|
rs774178253
|
0.00001
|
|
NM_000465.4(BARD1):c.1904-15T>C
|
rs747735614
|
0.00001
|
|
NM_000465.4(BARD1):c.1904-6T>C
|
rs864622634
|
0.00001
|
|
NM_000465.4(BARD1):c.1917T>G (p.Cys639Trp)
|
rs1345080663
|
0.00001
|
|
NM_000465.4(BARD1):c.1920A>G (p.Leu640=)
|
rs780901872
|
0.00001
|
|
NM_000465.4(BARD1):c.1922G>A (p.Arg641Gln)
|
rs752870879
|
0.00001
|
|
NM_000465.4(BARD1):c.1925G>C (p.Arg642Thr)
|
rs1420797541
|
0.00001
|
|
NM_000465.4(BARD1):c.1940A>G (p.Gln647Arg)
|
rs786202232
|
0.00001
|
|
NM_000465.4(BARD1):c.1948A>C (p.Lys650Gln)
|
rs1283527672
|
0.00001
|
|
NM_000465.4(BARD1):c.1960C>T (p.Pro654Ser)
|
rs876658741
|
0.00001
|
|
NM_000465.4(BARD1):c.1963G>C (p.Glu655Gln)
|
rs786203772
|
0.00001
|
|
NM_000465.4(BARD1):c.1970C>A (p.Pro657Gln)
|
rs1559373931
|
0.00001
|
|
NM_000465.4(BARD1):c.1990A>G (p.Arg664Gly)
|
rs1064795138
|
0.00001
|
|
NM_000465.4(BARD1):c.19C>T (p.Pro7Ser)
|
rs1158534804
|
0.00001
|
|
NM_000465.4(BARD1):c.2002-12T>G
|
rs587780027
|
0.00001
|
|
NM_000465.4(BARD1):c.2002-17T>C
|
rs1692232403
|
0.00001
|
|
NM_000465.4(BARD1):c.2008A>G (p.Lys670Glu)
|
rs775039040
|
0.00001
|
|
NM_000465.4(BARD1):c.2013G>A (p.Leu671=)
|
rs759021562
|
0.00001
|
|
NM_000465.4(BARD1):c.201G>C (p.Glu67Asp)
|
rs1385746925
|
0.00001
|
|
NM_000465.4(BARD1):c.2020G>A (p.Gly674Arg)
|
rs1328046615
|
0.00001
|
|
NM_000465.4(BARD1):c.2029T>C (p.Phe677Leu)
|
rs746790711
|
0.00001
|
|
NM_000465.4(BARD1):c.2033A>G (p.Tyr678Cys)
|
rs771766430
|
0.00001
|
|
NM_000465.4(BARD1):c.2054A>G (p.His685Arg)
|
rs368488821
|
0.00001
|
|
NM_000465.4(BARD1):c.2057A>G (p.His686Arg)
|
rs864622380
|
0.00001
|
|
NM_000465.4(BARD1):c.2063A>T (p.Lys688Met)
|
rs1692224981
|
0.00001
|
|
NM_000465.4(BARD1):c.2065G>A (p.Asp689Asn)
|
rs863224671
|
0.00001
|
|
NM_000465.4(BARD1):c.2066A>G (p.Asp689Gly)
|
rs1060501312
|
0.00001
|
|
NM_000465.4(BARD1):c.2071C>T (p.Leu691Phe)
|
rs1036838204
|
0.00001
|
|
NM_000465.4(BARD1):c.2075T>C (p.Ile692Thr)
|
rs587782555
|
0.00001
|
|
NM_000465.4(BARD1):c.2080C>T (p.Leu694Phe)
|
rs1553612199
|
0.00001
|
|
NM_000465.4(BARD1):c.2091A>G (p.Ala697=)
|
rs786201573
|
0.00001
|
|
NM_000465.4(BARD1):c.2101C>G (p.Gln701Glu)
|
rs587782348
|
0.00001
|
|
NM_000465.4(BARD1):c.2105T>A (p.Ile702Asn)
|
rs752114855
|
0.00001
|
|
NM_000465.4(BARD1):c.2123A>G (p.Lys708Arg)
|
rs372160908
|
0.00001
|
|
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val)
|
rs150121935
|
0.00001
|
|
NM_000465.4(BARD1):c.2131A>G (p.Ser711Gly)
|
rs564838936
|
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.2146A>G (p.Thr716Ala)
|
rs878854006
|
0.00001
|
|
NM_000465.4(BARD1):c.215+20T>A
|
rs200715720
|
0.00001
|
|
NM_000465.4(BARD1):c.2153A>G (p.Asn718Ser)
|
rs773166130
|
0.00001
|
|
NM_000465.4(BARD1):c.2155A>G (p.Thr719Ala)
|
rs771852699
|
0.00001
|
|
NM_000465.4(BARD1):c.216-12A>C
|
rs199846428
|
0.00001
|
|
NM_000465.4(BARD1):c.216-16T>A
|
rs763760515
|
0.00001
|
|
NM_000465.4(BARD1):c.216-3A>C
|
rs1329481396
|
0.00001
|
|
NM_000465.4(BARD1):c.2167C>G (p.His723Asp)
|
rs1245669447
|
0.00001
|
|
NM_000465.4(BARD1):c.2178C>T (p.Pro726=)
|
rs201873551
|
0.00001
|
|
NM_000465.4(BARD1):c.2181T>G (p.Asp727Glu)
|
rs876660554
|
0.00001
|
|
NM_000465.4(BARD1):c.2202A>G (p.Thr734=)
|
rs786201370
|
0.00001
|
|
NM_000465.4(BARD1):c.2207A>T (p.Tyr736Phe)
|
rs587780028
|
0.00001
|
|
NM_000465.4(BARD1):c.2209A>G (p.Ile737Val)
|
rs761655616
|
0.00001
|
|
NM_000465.4(BARD1):c.2211C>T (p.Ile737=)
|
rs773958595
|
0.00001
|
|
NM_000465.4(BARD1):c.2224T>A (p.Leu742Met)
|
rs876659765
|
0.00001
|
|
NM_000465.4(BARD1):c.2235T>C (p.Tyr745=)
|
rs747122703
|
0.00001
|
|
NM_000465.4(BARD1):c.2248G>A (p.Val750Ile)
|
rs34677017
|
0.00001
|
|
NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp)
|
rs139785364
|
0.00001
|
|
NM_000465.4(BARD1):c.2253G>T (p.Arg751=)
|
rs750001065
|
0.00001
|
|
NM_000465.4(BARD1):c.2255A>G (p.Gln752Arg)
|
rs755369095
|
0.00001
|
|
NM_000465.4(BARD1):c.2262A>G (p.Lys754=)
|
rs1446285640
|
0.00001
|
|
NM_000465.4(BARD1):c.2265C>A (p.Val755=)
|
rs13389324
|
0.00001
|
|
NM_000465.4(BARD1):c.2277T>C (p.Pro759=)
|
rs766070611
|
0.00001
|
|
NM_000465.4(BARD1):c.2294A>G (p.Asp765Gly)
|
rs730881426
|
0.00001
|
|
NM_000465.4(BARD1):c.2313G>A (p.Glu771=)
|
rs762887239
|
0.00001
|
|
NM_000465.4(BARD1):c.2324T>A (p.Leu775His)
|
rs907023461
|
0.00001
|
|
NM_000465.4(BARD1):c.2324_2325del (p.Leu775fs)
|
rs587782046
|
0.00001
|
|
NM_000465.4(BARD1):c.2328C>T (p.Asp776=)
|
rs863224673
|
0.00001
|
|
NM_000465.4(BARD1):c.243T>C (p.Thr81=)
|
rs1201733686
|
0.00001
|
|
NM_000465.4(BARD1):c.250C>G (p.Pro84Ala)
|
rs376248938
|
0.00001
|
|
NM_000465.4(BARD1):c.274A>T (p.Ile92Leu)
|
rs750878896
|
0.00001
|
|
NM_000465.4(BARD1):c.27C>T (p.Asn9=)
|
rs1038616344
|
0.00001
|
|
NM_000465.4(BARD1):c.28C>T (p.Arg10Trp)
|
rs1425810692
|
0.00001
|
|
NM_000465.4(BARD1):c.292A>G (p.Asn98Asp)
|
rs1444375563
|
0.00001
|
|
NM_000465.4(BARD1):c.300A>G (p.Gln100=)
|
rs977731407
|
0.00001
|
|
NM_000465.4(BARD1):c.304G>A (p.Asp102Asn)
|
rs140254589
|
0.00001
|
|
NM_000465.4(BARD1):c.325A>C (p.Ser109Arg)
|
rs764746353
|
0.00001
|
|
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter)
|
rs758972589
|
0.00001
|
|
NM_000465.4(BARD1):c.335G>A (p.Arg112Gln)
|
rs587781591
|
0.00001
|
|
NM_000465.4(BARD1):c.347A>G (p.His116Arg)
|
rs773211367
|
0.00001
|
|
NM_000465.4(BARD1):c.350A>G (p.Asp117Gly)
|
rs876658241
|
0.00001
|
|
NM_000465.4(BARD1):c.364+14C>G
|
rs1057521833
|
0.00001
|
|
NM_000465.4(BARD1):c.364+17T>C
|
rs375358131
|
0.00001
|
|
NM_000465.4(BARD1):c.364+18C>A
|
rs1057523017
|
0.00001
|
|
NM_000465.4(BARD1):c.364+3A>G
|
rs1695552690
|
0.00001
|
|
NM_000465.4(BARD1):c.364+7A>C
|
rs1475396127
|
0.00001
|
|
NM_000465.4(BARD1):c.36G>A (p.Pro12=)
|
rs876659948
|
0.00001
|
|
NM_000465.4(BARD1):c.382C>T (p.Pro128Ser)
|
rs878854011
|
0.00001
|
|
NM_000465.4(BARD1):c.388A>G (p.Lys130Glu)
|
rs776760754
|
0.00001
|
|
NM_000465.4(BARD1):c.38G>A (p.Arg13Lys)
|
rs587781713
|
0.00001
|
|
NM_000465.4(BARD1):c.392G>A (p.Ser131Asn)
|
rs1163172447
|
0.00001
|
|
NM_000465.4(BARD1):c.39G>A (p.Arg13=)
|
rs770217979
|
0.00001
|
|
NM_000465.4(BARD1):c.407C>T (p.Ala136Val)
|
rs1553622698
|
0.00001
|
|
NM_000465.4(BARD1):c.415A>G (p.Lys139Glu)
|
rs587782395
|
0.00001
|
|
NM_000465.4(BARD1):c.420G>T (p.Lys140Asn)
|
rs758749603
|
0.00001
|
|
NM_000465.4(BARD1):c.427A>G (p.Ile143Val)
|
rs1060501289
|
0.00001
|
|
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter)
|
rs730881411
|
0.00001
|
|
NM_000465.4(BARD1):c.449G>A (p.Arg150Gln)
|
rs730881412
|
0.00001
|
|
NM_000465.4(BARD1):c.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.473T>A (p.Val158Glu)
|
rs730881414
|
0.00001
|
|
NM_000465.4(BARD1):c.47C>T (p.Ser16Phe)
|
rs1326565823
|
0.00001
|
|
NM_000465.4(BARD1):c.490C>G (p.Gln164Glu)
|
rs750350372
|
0.00001
|
|
NM_000465.4(BARD1):c.493A>G (p.Thr165Ala)
|
rs876658147
|
0.00001
|
|
NM_000465.4(BARD1):c.49G>A (p.Gly17Arg)
|
rs746495820
|
0.00001
|
|
NM_000465.4(BARD1):c.500C>A (p.Pro167His)
|
rs1695024043
|
0.00001
|
|
NM_000465.4(BARD1):c.505A>C (p.Ile169Leu)
|
rs765494437
|
0.00001
|
|
NM_000465.4(BARD1):c.514G>A (p.Asp172Asn)
|
rs759732945
|
0.00001
|
|
NM_000465.4(BARD1):c.520A>C (p.Ser174Arg)
|
rs1060501295
|
0.00001
|
|
NM_000465.4(BARD1):c.532G>A (p.Asp178Asn)
|
rs1300620941
|
0.00001
|
|
NM_000465.4(BARD1):c.542A>G (p.Glu181Gly)
|
rs878854013
|
0.00001
|
|
NM_000465.4(BARD1):c.545T>G (p.Phe182Cys)
|
rs878854014
|
0.00001
|
|
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys)
|
rs587780032
|
0.00001
|
|
NM_000465.4(BARD1):c.554C>T (p.Pro185Leu)
|
rs927697548
|
0.00001
|
|
NM_000465.4(BARD1):c.567A>C (p.Ala189=)
|
rs878854015
|
0.00001
|
|
NM_000465.4(BARD1):c.571G>A (p.Val191Ile)
|
rs200781791
|
0.00001
|
|
NM_000465.4(BARD1):c.580A>T (p.Arg194Trp)
|
rs587782806
|
0.00001
|
|
NM_000465.4(BARD1):c.583G>T (p.Ala195Ser)
|
rs755641562
|
0.00001
|
|
NM_000465.4(BARD1):c.585T>C (p.Ala195=)
|
rs876658532
|
0.00001
|
|
NM_000465.4(BARD1):c.586A>G (p.Lys196Glu)
|
rs376259263
|
0.00001
|
|
NM_000465.4(BARD1):c.592G>T (p.Ala198Ser)
|
rs748834249
|
0.00001
|
|
NM_000465.4(BARD1):c.593C>T (p.Ala198Val)
|
rs751357679
|
0.00001
|
|
NM_000465.4(BARD1):c.599C>T (p.Ala200Val)
|
rs1254403542
|
0.00001
|
|
NM_000465.4(BARD1):c.606T>G (p.Ser202=)
|
rs762810549
|
0.00001
|
|
NM_000465.4(BARD1):c.614A>G (p.Lys205Arg)
|
rs587782437
|
0.00001
|
|
NM_000465.4(BARD1):c.628A>G (p.Thr210Ala)
|
rs1415703291
|
0.00001
|
|
NM_000465.4(BARD1):c.632T>C (p.Leu211Ser)
|
rs762171436
|
0.00001
|
|
NM_000465.4(BARD1):c.635C>G (p.Ala212Gly)
|
rs1400642945
|
0.00001
|
|
NM_000465.4(BARD1):c.647A>G (p.Gln216Arg)
|
rs1178751431
|
0.00001
|
|
NM_000465.4(BARD1):c.651A>G (p.Lys217=)
|
rs768866006
|
0.00001
|
|
NM_000465.4(BARD1):c.65C>T (p.Ser22Phe)
|
rs876659724
|
0.00001
|
|
NM_000465.4(BARD1):c.669A>G (p.Glu223=)
|
rs786201963
|
0.00001
|
|
NM_000465.4(BARD1):c.684A>G (p.Glu228=)
|
rs780627045
|
0.00001
|
|
NM_000465.4(BARD1):c.714G>C (p.Lys238Asn)
|
rs1559425247
|
0.00001
|
|
NM_000465.4(BARD1):c.725T>A (p.Phe242Tyr)
|
rs1354702896
|
0.00001
|
|
NM_000465.4(BARD1):c.726C>T (p.Phe242=)
|
rs876659277
|
0.00001
|
|
NM_000465.4(BARD1):c.728G>T (p.Cys243Phe)
|
rs767432527
|
0.00001
|
|
NM_000465.4(BARD1):c.735A>G (p.Gln245=)
|
rs763378916
|
0.00001
|
|
NM_000465.4(BARD1):c.73G>C (p.Ala25Pro)
|
rs751646468
|
0.00001
|
|
NM_000465.4(BARD1):c.746T>C (p.Ile249Thr)
|
rs780899747
|
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.804A>G (p.Glu268=)
|
rs764693879
|
0.00001
|
|
NM_000465.4(BARD1):c.807T>G (p.Ser269=)
|
rs1420328641
|
0.00001
|
|
NM_000465.4(BARD1):c.808G>C (p.Glu270Gln)
|
rs1060501288
|
0.00001
|
|
NM_000465.4(BARD1):c.823T>C (p.Leu275=)
|
rs776157713
|
0.00001
|
|
NM_000465.4(BARD1):c.835T>C (p.Ser279Pro)
|
rs587781456
|
0.00001
|
|
NM_000465.4(BARD1):c.83C>T (p.Pro28Leu)
|
rs1696463841
|
0.00001
|
|
NM_000465.4(BARD1):c.843A>G (p.Pro281=)
|
rs1559424812
|
0.00001
|
|
NM_000465.4(BARD1):c.863C>T (p.Ser288Phe)
|
rs878854016
|
0.00001
|
|
NM_000465.4(BARD1):c.864T>C (p.Ser288=)
|
rs771982631
|
0.00001
|
|
NM_000465.4(BARD1):c.866C>T (p.Pro289Leu)
|
rs748019195
|
0.00001
|
|
NM_000465.4(BARD1):c.882G>A (p.Arg294=)
|
rs778855056
|
0.00001
|
|
NM_000465.4(BARD1):c.889G>A (p.Val297Ile)
|
rs754720101
|
0.00001
|
|
NM_000465.4(BARD1):c.899C>T (p.Pro300Leu)
|
rs961232989
|
0.00001
|
|
NM_000465.4(BARD1):c.913A>C (p.Lys305Gln)
|
rs786203258
|
0.00001
|
|
NM_000465.4(BARD1):c.922C>G (p.Leu308Val)
|
rs1407053508
|
0.00001
|
|
NM_000465.4(BARD1):c.926C>T (p.Thr309Ile)
|
rs1236791029
|
0.00001
|
|
NM_000465.4(BARD1):c.928T>G (p.Ser310Ala)
|
rs886041139
|
0.00001
|
|
NM_000465.4(BARD1):c.933G>T (p.Lys311Asn)
|
rs1060501297
|
0.00001
|
|
NM_000465.4(BARD1):c.944C>T (p.Pro315Leu)
|
rs148760338
|
0.00001
|
|
NM_000465.4(BARD1):c.954T>C (p.Asn318=)
|
rs771502065
|
0.00001
|
|
NM_000465.4(BARD1):c.95G>T (p.Gly32Val)
|
rs587782675
|
0.00001
|
|
NM_000465.4(BARD1):c.964C>T (p.Arg322Cys)
|
rs786203129
|
0.00001
|
|
NM_000465.4(BARD1):c.965G>A (p.Arg322His)
|
rs774251286
|
0.00001
|
|
NM_000465.4(BARD1):c.975C>T (p.His325=)
|
rs876660202
|
0.00001
|
|
NM_000465.4(BARD1):c.976A>G (p.Asn326Asp)
|
rs587780038
|
0.00001
|
|
NM_000465.4(BARD1):c.986C>G (p.Ser329Cys)
|
rs905626929
|
0.00001
|
|
NM_000465.4(BARD1):c.992C>G (p.Pro331Arg)
|
rs1422030098
|
0.00001
|
|
NM_000535.7(PMS2):c.1798A>G (p.Met600Val)
|
rs1304634005
|
0.00001
|
|
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg)
|
rs267608167
|
0.00001
|
|
NM_000535.7(PMS2):c.1963G>A (p.Gly655Arg)
|
rs1064793236
|
0.00001
|
|
NM_000535.7(PMS2):c.2092G>C (p.Val698Leu)
|
rs751551006
|
0.00001
|
|
NM_000535.7(PMS2):c.2148C>T (p.Thr716=)
|
rs748404138
|
0.00001
|
|
NM_000535.7(PMS2):c.480G>A (p.Gln160=)
|
rs1426242773
|
0.00001
|
|
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
|
rs200640585
|
0.00001
|
|
NM_000546.6(TP53):c.-11G>A
|
rs773666793
|
0.00001
|
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
|
NM_000546.6(TP53):c.245C>T (p.Pro82Leu)
|
rs534447939
|
0.00001
|
|
NM_000546.6(TP53):c.328C>T (p.Arg110Cys)
|
rs587781371
|
0.00001
|
|
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
|
rs587782705
|
0.00001
|
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
|
NM_000546.6(TP53):c.541C>T (p.Arg181Cys)
|
rs587782596
|
0.00001
|
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
|
NM_000546.6(TP53):c.673-9A>G
|
rs754628512
|
0.00001
|
|
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)
|
rs121912655
|
0.00001
|
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
|
NM_000546.6(TP53):c.800G>A (p.Arg267Gln)
|
rs587780075
|
0.00001
|
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
|
NM_000546.6(TP53):c.840A>T (p.Arg280Ser)
|
rs1567547687
|
0.00001
|
|
NM_000546.6(TP53):c.891C>T (p.His297=)
|
rs750578863
|
0.00001
|
|
NM_001002295.2(GATA3):c.1032C>T (p.Leu344=)
|
rs104886017
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
|
rs587783057
|
0.00001
|
|
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)
|
rs755653922
|
0.00001
|
|
NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp)
|
rs750592289
|
0.00001
|
|
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)
|
rs374950566
|
0.00001
|
|
NM_001142556.2(HMMR):c.904+1G>T
|
rs374532508
|
0.00001
|
|
NM_001143992.2(WRAP53):c.838G>A (p.Ala280Thr)
|
rs968150359
|
0.00001
|
|
NM_001144.6(AMFR):c.1786C>T (p.Arg596Cys)
|
rs869025244
|
0.00001
|
|
NM_002485.5(NBN):c.1465C>G (p.Leu489Val)
|
rs143948240
|
0.00001
|
|
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly)
|
rs763926389
|
0.00001
|
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
0.00001
|
|
NM_002485.5(NBN):c.2196A>G (p.Gln732=)
|
rs587780780
|
0.00001
|
|
NM_002485.5(NBN):c.306T>C (p.Phe102=)
|
rs1554568276
|
0.00001
|
|
NM_002485.5(NBN):c.445C>T (p.His149Tyr)
|
rs1161054161
|
0.00001
|
|
NM_002485.5(NBN):c.798G>A (p.Pro266=)
|
rs368786672
|
0.00001
|
|
NM_002485.5(NBN):c.938C>T (p.Ala313Val)
|
rs730881862
|
0.00001
|
|
NM_002691.4(POLD1):c.2599G>A (p.Val867Ile)
|
rs367680864
|
0.00001
|
|
NM_002691.4(POLD1):c.46A>G (p.Lys16Glu)
|
rs765185645
|
0.00001
|
|
NM_002878.4(RAD51D):c.131G>A (p.Gly44Asp)
|
rs374730714
|
0.00001
|
|
NM_002878.4(RAD51D):c.27C>T (p.Cys9=)
|
rs200487648
|
0.00001
|
|
NM_002878.4(RAD51D):c.491T>C (p.Leu164Pro)
|
rs769287847
|
0.00001
|
|
NM_002878.4(RAD51D):c.739-10T>C
|
rs199998187
|
0.00001
|
|
NM_002878.4(RAD51D):c.739-1G>A
|
rs1555567202
|
0.00001
|
|
NM_002878.4(RAD51D):c.772G>A (p.Gly258Arg)
|
rs181695922
|
0.00001
|
|
NM_003579.4(RAD54L):c.973G>A (p.Gly325Arg)
|
rs121908690
|
0.00001
|
|
NM_003629.4(PIK3R3):c.797G>A (p.Arg266His)
|
rs765790132
|
0.00001
|
|
NM_003683.6(RRP1):c.340C>T (p.Arg114Cys)
|
rs763767114
|
0.00001
|
|
NM_003981.4(PRC1):c.971-375A>G
|
rs186031385
|
0.00001
|
|
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu)
|
rs781636798
|
0.00001
|
|
NM_004260.4(RECQL4):c.2704C>T (p.Arg902Trp)
|
rs761231404
|
0.00001
|
|
NM_004329.3(BMPR1A):c.430+12G>A
|
rs201530603
|
0.00001
|
|
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)
|
rs587780784
|
0.00001
|
|
NM_004360.5(CDH1):c.1009-13G>A
|
rs557444760
|
0.00001
|
|
NM_004360.5(CDH1):c.1070C>A (p.Thr357Lys)
|
rs1260033180
|
0.00001
|
|
NM_004360.5(CDH1):c.1079C>G (p.Thr360Arg)
|
rs549579183
|
0.00001
|
|
NM_004360.5(CDH1):c.1127A>G (p.Asn376Ser)
|
rs1169866178
|
0.00001
|
|
NM_004360.5(CDH1):c.112A>G (p.Thr38Ala)
|
rs786203442
|
0.00001
|
|
NM_004360.5(CDH1):c.1137+1G>A
|
rs876660771
|
0.00001
|
|
NM_004360.5(CDH1):c.114G>C (p.Thr38=)
|
rs786201492
|
0.00001
|
|
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile)
|
rs556110297
|
0.00001
|
|
NM_004360.5(CDH1):c.1202C>A (p.Ala401Asp)
|
rs150795245
|
0.00001
|
|
NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser)
|
rs773441320
|
0.00001
|
|
NM_004360.5(CDH1):c.125C>T (p.Pro42Leu)
|
rs876659333
|
0.00001
|
|
NM_004360.5(CDH1):c.1266A>G (p.Gln422=)
|
rs776805501
|
0.00001
|
|
NM_004360.5(CDH1):c.1315G>A (p.Ala439Thr)
|
rs758764445
|
0.00001
|
|
NM_004360.5(CDH1):c.1319A>G (p.Lys440Arg)
|
rs864622165
|
0.00001
|
|
NM_004360.5(CDH1):c.1325T>C (p.Leu442Ser)
|
rs752074266
|
0.00001
|
|
NM_004360.5(CDH1):c.1334A>C (p.Glu445Ala)
|
rs374398608
|
0.00001
|
|
NM_004360.5(CDH1):c.1351A>C (p.Ile451Leu)
|
rs377416092
|
0.00001
|
|
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met)
|
rs587778170
|
0.00001
|
|
NM_004360.5(CDH1):c.1525A>G (p.Thr509Ala)
|
rs761356661
|
0.00001
|
|
NM_004360.5(CDH1):c.1526C>A (p.Thr509Asn)
|
rs771551231
|
0.00001
|
|
NM_004360.5(CDH1):c.1566-1G>C
|
rs113583899
|
0.00001
|
|
NM_004360.5(CDH1):c.1612G>T (p.Asp538Tyr)
|
rs756154596
|
0.00001
|
|
NM_004360.5(CDH1):c.1633C>T (p.Arg545Trp)
|
rs863224727
|
0.00001
|
|
NM_004360.5(CDH1):c.1712-3T>G
|
rs1269786119
|
0.00001
|
|
NM_004360.5(CDH1):c.172G>A (p.Glu58Lys)
|
rs1060501234
|
0.00001
|
|
NM_004360.5(CDH1):c.1770C>A (p.Asp590Glu)
|
rs864622319
|
0.00001
|
|
NM_004360.5(CDH1):c.1843A>G (p.Ile615Val)
|
rs1003012321
|
0.00001
|
|
NM_004360.5(CDH1):c.1897G>A (p.Gly633Arg)
|
rs587781615
|
0.00001
|
|
NM_004360.5(CDH1):c.1900G>A (p.Ala634Thr)
|
rs1060501240
|
0.00001
|
|
NM_004360.5(CDH1):c.1906G>A (p.Ala636Thr)
|
rs876658950
|
0.00001
|
|
NM_004360.5(CDH1):c.199G>A (p.Ala67Thr)
|
rs1060501247
|
0.00001
|
|
NM_004360.5(CDH1):c.200C>A (p.Ala67Asp)
|
rs730881660
|
0.00001
|
|
NM_004360.5(CDH1):c.2026G>A (p.Asp676Asn)
|
rs115408226
|
0.00001
|
|
NM_004360.5(CDH1):c.203A>G (p.Tyr68Cys)
|
rs1284989530
|
0.00001
|
|
NM_004360.5(CDH1):c.2046G>A (p.Glu682=)
|
rs753209043
|
0.00001
|
|
NM_004360.5(CDH1):c.20G>C (p.Ser7Thr)
|
rs1310934198
|
0.00001
|
|
NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp)
|
rs864622198
|
0.00001
|
|
NM_004360.5(CDH1):c.2195G>T (p.Arg732Leu)
|
rs1060501244
|
0.00001
|
|
NM_004360.5(CDH1):c.2201G>C (p.Arg734Thr)
|
rs587781859
|
0.00001
|
|
NM_004360.5(CDH1):c.2219C>A (p.Pro740His)
|
rs730881669
|
0.00001
|
|
NM_004360.5(CDH1):c.225C>G (p.Phe75Leu)
|
rs767019668
|
0.00001
|
|
NM_004360.5(CDH1):c.2261A>G (p.Tyr754Cys)
|
rs767613429
|
0.00001
|
|
NM_004360.5(CDH1):c.2264A>G (p.Tyr755Cys)
|
rs187289510
|
0.00001
|
|
NM_004360.5(CDH1):c.2281G>A (p.Gly761Arg)
|
rs779648243
|
0.00001
|
|
NM_004360.5(CDH1):c.2302G>A (p.Asp768Asn)
|
rs786201999
|
0.00001
|
|
NM_004360.5(CDH1):c.2318A>G (p.His773Arg)
|
rs587782823
|
0.00001
|
|
NM_004360.5(CDH1):c.2332G>A (p.Ala778Thr)
|
rs777078601
|
0.00001
|
|
NM_004360.5(CDH1):c.2335C>T (p.Arg779Trp)
|
rs876660183
|
0.00001
|
|
NM_004360.5(CDH1):c.2358C>T (p.Asp786=)
|
rs760701558
|
0.00001
|
|
NM_004360.5(CDH1):c.2380G>A (p.Val794Ile)
|
rs587782466
|
0.00001
|
|
NM_004360.5(CDH1):c.2398C>T (p.Arg800Cys)
|
rs587782162
|
0.00001
|
|
NM_004360.5(CDH1):c.2414A>G (p.Asp805Gly)
|
rs1481419710
|
0.00001
|
|
NM_004360.5(CDH1):c.244G>A (p.Val82Met)
|
rs1064793867
|
0.00001
|
|
NM_004360.5(CDH1):c.2458A>G (p.Thr820Ala)
|
rs878854685
|
0.00001
|
|
NM_004360.5(CDH1):c.2459C>T (p.Thr820Ile)
|
rs767159815
|
0.00001
|
|
NM_004360.5(CDH1):c.245T>G (p.Val82Gly)
|
rs942284129
|
0.00001
|
|
NM_004360.5(CDH1):c.2515G>A (p.Gly839Ser)
|
rs587780121
|
0.00001
|
|
NM_004360.5(CDH1):c.251C>T (p.Thr84Ile)
|
rs754388534
|
0.00001
|
|
NM_004360.5(CDH1):c.2545A>G (p.Asn849Asp)
|
rs876660881
|
0.00001
|
|
NM_004360.5(CDH1):c.2549C>G (p.Ser850Cys)
|
rs1337211551
|
0.00001
|
|
NM_004360.5(CDH1):c.2602C>A (p.Arg868Ser)
|
rs864622630
|
0.00001
|
|
NM_004360.5(CDH1):c.2603G>A (p.Arg868His)
|
rs369126891
|
0.00001
|
|
NM_004360.5(CDH1):c.261G>C (p.Arg87Ser)
|
rs878854689
|
0.00001
|
|
NM_004360.5(CDH1):c.2629G>A (p.Gly877Arg)
|
rs555842031
|
0.00001
|
|
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys)
|
rs34507583
|
0.00001
|
|
NM_004360.5(CDH1):c.28G>A (p.Ala10Thr)
|
rs1053572488
|
0.00001
|
|
NM_004360.5(CDH1):c.322A>G (p.Arg108Gly)
|
rs587778172
|
0.00001
|
|
NM_004360.5(CDH1):c.369C>G (p.His123Gln)
|
rs778954591
|
0.00001
|
|
NM_004360.5(CDH1):c.382C>T (p.His128Tyr)
|
rs376152506
|
0.00001
|
|
NM_004360.5(CDH1):c.387+1G>A
|
rs587781919
|
0.00001
|
|
NM_004360.5(CDH1):c.546A>C (p.Lys182Asn)
|
rs201141645
|
0.00001
|
|
NM_004360.5(CDH1):c.574A>G (p.Ile192Val)
|
rs376102028
|
0.00001
|
|
NM_004360.5(CDH1):c.602C>G (p.Pro201Arg)
|
rs146777134
|
0.00001
|
|
NM_004360.5(CDH1):c.620T>C (p.Ile207Thr)
|
rs778570149
|
0.00001
|
|
NM_004360.5(CDH1):c.631A>G (p.Thr211Ala)
|
rs587781766
|
0.00001
|
|
NM_004360.5(CDH1):c.679A>G (p.Thr227Ala)
|
rs1064796018
|
0.00001
|
|
NM_004360.5(CDH1):c.731A>G (p.Asp244Gly)
|
rs1064794231
|
0.00001
|
|
NM_004360.5(CDH1):c.794A>T (p.Glu265Val)
|
rs587782728
|
0.00001
|
|
NM_004360.5(CDH1):c.79C>T (p.Pro27Ser)
|
rs878854696
|
0.00001
|
|
NM_004360.5(CDH1):c.805G>A (p.Gly269Arg)
|
rs750979600
|
0.00001
|
|
NM_004360.5(CDH1):c.901G>A (p.Ala301Thr)
|
rs749056300
|
0.00001
|
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
|
NM_005228.5(EGFR):c.2602G>A (p.Glu868Lys)
|
rs104886013
|
0.00001
|
|
NM_005502.4(ABCA1):c.2014C>T (p.Arg672Trp)
|
rs759576379
|
0.00001
|
|
NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter)
|
rs780001540
|
0.00001
|
|
NM_005732.4(RAD50):c.3539G>A (p.Arg1180Gln)
|
rs369788398
|
0.00001
|
|
NM_005732.4(RAD50):c.3660G>A (p.Thr1220=)
|
rs758026288
|
0.00001
|
|
NM_005732.4(RAD50):c.586C>T (p.Arg196Cys)
|
rs769853458
|
0.00001
|
|
NM_005732.4(RAD50):c.977A>G (p.His326Arg)
|
rs1379211444
|
0.00001
|
|
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg)
|
rs1395235750
|
0.00001
|
|
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)
|
rs755969956
|
0.00001
|
|
NM_007194.4(CHEK2):c.-9G>C
|
rs1489154308
|
0.00001
|
|
NM_007194.4(CHEK2):c.1009-20A>G
|
rs946179247
|
0.00001
|
|
NM_007194.4(CHEK2):c.1009-6G>A
|
rs775593362
|
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.1013T>A (p.Leu338His)
|
rs374660293
|
0.00001
|
|
NM_007194.4(CHEK2):c.1019A>G (p.Glu340Gly)
|
rs747655283
|
0.00001
|
|
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser)
|
rs730881705
|
0.00001
|
|
NM_007194.4(CHEK2):c.1027A>G (p.Ile343Val)
|
rs141502354
|
0.00001
|
|
NM_007194.4(CHEK2):c.102G>A (p.Gln34=)
|
rs1555932675
|
0.00001
|
|
NM_007194.4(CHEK2):c.1032A>G (p.Ile344Met)
|
rs202051128
|
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.1042T>G (p.Leu348Val)
|
rs2052611352
|
0.00001
|
|
NM_007194.4(CHEK2):c.1043T>C (p.Leu348Ser)
|
rs878854908
|
0.00001
|
|
NM_007194.4(CHEK2):c.1046A>G (p.Lys349Arg)
|
rs1235802399
|
0.00001
|
|
NM_007194.4(CHEK2):c.1052A>C (p.Glu351Ala)
|
rs786202893
|
0.00001
|
|
NM_007194.4(CHEK2):c.1054A>G (p.Asn352Asp)
|
rs1361935182
|
0.00001
|
|
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu)
|
rs121908703
|
0.00001
|
|
NM_007194.4(CHEK2):c.1076A>G (p.Glu359Gly)
|
rs760449049
|
0.00001
|
|
NM_007194.4(CHEK2):c.1081G>C (p.Asp361His)
|
rs199859140
|
0.00001
|
|
NM_007194.4(CHEK2):c.1083C>T (p.Asp361=)
|
rs572668197
|
0.00001
|
|
NM_007194.4(CHEK2):c.1084T>C (p.Cys362Arg)
|
rs1064793339
|
0.00001
|
|
NM_007194.4(CHEK2):c.1089T>C (p.Leu363=)
|
rs761681864
|
0.00001
|
|
NM_007194.4(CHEK2):c.1095+8A>G
|
rs1057522814
|
0.00001
|
|
NM_007194.4(CHEK2):c.1095G>C (p.Lys365Asn)
|
rs1601726502
|
0.00001
|
|
NM_007194.4(CHEK2):c.1096-16T>C
|
rs1377212608
|
0.00001
|
|
NM_007194.4(CHEK2):c.1096-4T>C
|
rs587782840
|
0.00001
|
|
NM_007194.4(CHEK2):c.1096-6T>G
|
rs1180195480
|
0.00001
|
|
NM_007194.4(CHEK2):c.1098T>G (p.Ile366Met)
|
rs876659635
|
0.00001
|
|
NM_007194.4(CHEK2):c.1153T>C (p.Cys385Arg)
|
rs587782817
|
0.00001
|
|
NM_007194.4(CHEK2):c.1154G>A (p.Cys385Tyr)
|
rs145324174
|
0.00001
|
|
NM_007194.4(CHEK2):c.1160C>G (p.Thr387Ser)
|
rs587780168
|
0.00001
|
|
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu)
|
rs730881690
|
0.00001
|
|
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys)
|
rs587780169
|
0.00001
|
|
NM_007194.4(CHEK2):c.1182A>T (p.Glu394Asp)
|
rs786202164
|
0.00001
|
|
NM_007194.4(CHEK2):c.1186C>G (p.Leu396Val)
|
rs886041172
|
0.00001
|
|
NM_007194.4(CHEK2):c.1195G>A (p.Val399Ile)
|
rs876658682
|
0.00001
|
|
NM_007194.4(CHEK2):c.1196T>A (p.Val399Asp)
|
rs527878975
|
0.00001
|
|
NM_007194.4(CHEK2):c.1197T>C (p.Val399=)
|
rs1057520268
|
0.00001
|
|
NM_007194.4(CHEK2):c.1198G>T (p.Gly400Trp)
|
rs1342820782
|
0.00001
|
|
NM_007194.4(CHEK2):c.1200G>C (p.Gly400=)
|
rs876659590
|
0.00001
|
|
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala)
|
rs121908704
|
0.00001
|
|
NM_007194.4(CHEK2):c.1204G>A (p.Ala402Thr)
|
rs758206293
|
0.00001
|
|
NM_007194.4(CHEK2):c.1214A>G (p.Asn405Ser)
|
rs369070738
|
0.00001
|
|
NM_007194.4(CHEK2):c.1225G>C (p.Asp409His)
|
rs766191039
|
0.00001
|
|
NM_007194.4(CHEK2):c.1226A>T (p.Asp409Val)
|
rs761095543
|
0.00001
|
|
NM_007194.4(CHEK2):c.1230C>T (p.Cys410=)
|
rs773380144
|
0.00001
|
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
0.00001
|
|
NM_007194.4(CHEK2):c.1233G>C (p.Trp411Cys)
|
rs1064796572
|
0.00001
|
|
NM_007194.4(CHEK2):c.1260-18C>T
|
rs1057521375
|
0.00001
|
|
NM_007194.4(CHEK2):c.1260-1G>A
|
rs786201906
|
0.00001
|
|
NM_007194.4(CHEK2):c.1260-8A>G
|
rs863224747
|
0.00001
|
|
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn)
|
rs549755590
|
0.00001
|
|
NM_007194.4(CHEK2):c.1273C>T (p.Pro425Ser)
|
rs1423670346
|
0.00001
|
|
NM_007194.4(CHEK2):c.1282T>C (p.Ser428Pro)
|
rs1182200321
|
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.1291A>G (p.Arg431Gly)
|
rs1064793470
|
0.00001
|
|
NM_007194.4(CHEK2):c.1293G>A (p.Arg431=)
|
rs587780175
|
0.00001
|
|
NM_007194.4(CHEK2):c.1316A>G (p.Gln439Arg)
|
rs1467664274
|
0.00001
|
|
NM_007194.4(CHEK2):c.1317G>T (p.Gln439His)
|
rs878854915
|
0.00001
|
|
NM_007194.4(CHEK2):c.1321A>G (p.Thr441Ala)
|
rs876660046
|
0.00001
|
|
NM_007194.4(CHEK2):c.1325G>A (p.Ser442Asn)
|
rs779383555
|
0.00001
|
|
NM_007194.4(CHEK2):c.132C>T (p.Ser44=)
|
rs199715101
|
0.00001
|
|
NM_007194.4(CHEK2):c.1333T>C (p.Tyr445His)
|
rs587778194
|
0.00001
|
|
NM_007194.4(CHEK2):c.1352T>C (p.Val451Ala)
|
rs139088611
|
0.00001
|
|
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)
|
rs763395924
|
0.00001
|
|
NM_007194.4(CHEK2):c.1361A>G (p.Glu454Gly)
|
rs1233346197
|
0.00001
|
|
NM_007194.4(CHEK2):c.1367C>T (p.Ser456Leu)
|
rs876659827
|
0.00001
|
|
NM_007194.4(CHEK2):c.136A>T (p.Met46Leu)
|
rs1601852941
|
0.00001
|
|
NM_007194.4(CHEK2):c.1374A>G (p.Lys458=)
|
rs776093527
|
0.00001
|
|
NM_007194.4(CHEK2):c.1375+2T>A
|
rs1483241325
|
0.00001
|
|
NM_007194.4(CHEK2):c.1375G>C (p.Ala459Pro)
|
rs769729382
|
0.00001
|
|
NM_007194.4(CHEK2):c.1376-12T>C
|
rs876660970
|
0.00001
|
|
NM_007194.4(CHEK2):c.1376-13A>G
|
rs1064793330
|
0.00001
|
|
NM_007194.4(CHEK2):c.137T>G (p.Met46Arg)
|
rs1555932504
|
0.00001
|
|
NM_007194.4(CHEK2):c.1386T>C (p.Leu462=)
|
rs876659337
|
0.00001
|
|
NM_007194.4(CHEK2):c.1391A>G (p.Lys464Arg)
|
rs529571124
|
0.00001
|
|
NM_007194.4(CHEK2):c.1409A>G (p.Asp470Gly)
|
rs1483112470
|
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.1438G>A (p.Ala480Thr)
|
rs773600515
|
0.00001
|
|
NM_007194.4(CHEK2):c.1448A>G (p.His483Arg)
|
rs587780177
|
0.00001
|
|
NM_007194.4(CHEK2):c.1450C>A (p.Pro484Thr)
|
rs548850521
|
0.00001
|
|
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=)
|
rs749156425
|
0.00001
|
|
NM_007194.4(CHEK2):c.1461+18C>T
|
rs1260246390
|
0.00001
|
|
NM_007194.4(CHEK2):c.1461+4G>A
|
rs1057522400
|
0.00001
|
|
NM_007194.4(CHEK2):c.1462-12A>G
|
rs1339529482
|
0.00001
|
|
NM_007194.4(CHEK2):c.1462-1G>A
|
rs1060502698
|
0.00001
|
|
NM_007194.4(CHEK2):c.1462G>A (p.Asp488Asn)
|
rs886041173
|
0.00001
|
|
NM_007194.4(CHEK2):c.146C>G (p.Ser49Cys)
|
rs730881694
|
0.00001
|
|
NM_007194.4(CHEK2):c.1476G>A (p.Lys492=)
|
rs898342452
|
0.00001
|
|
NM_007194.4(CHEK2):c.1482G>T (p.Lys494Asn)
|
rs767043399
|
0.00001
|
|
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter)
|
rs756250205
|
0.00001
|
|
NM_007194.4(CHEK2):c.1489del (p.Asp497fs)
|
rs774175654
|
0.00001
|
|
NM_007194.4(CHEK2):c.1491T>C (p.Asp497=)
|
rs762041905
|
0.00001
|
|
NM_007194.4(CHEK2):c.1499C>T (p.Ser500Phe)
|
rs28909981
|
0.00001
|
|
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)
|
rs17883172
|
0.00001
|
|
NM_007194.4(CHEK2):c.1503G>T (p.Glu501Asp)
|
rs1060502721
|
0.00001
|
|
NM_007194.4(CHEK2):c.1518A>G (p.Thr506=)
|
rs1052262892
|
0.00001
|
|
NM_007194.4(CHEK2):c.1522C>G (p.Leu508Val)
|
rs876660898
|
0.00001
|
|
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)
|
rs17882942
|
0.00001
|
|
NM_007194.4(CHEK2):c.1542+6C>T
|
rs1414780425
|
0.00001
|
|
NM_007194.4(CHEK2):c.1543-16T>G
|
rs764277564
|
0.00001
|
|
NM_007194.4(CHEK2):c.1547C>G (p.Ser516Cys)
|
rs1601698243
|
0.00001
|
|
NM_007194.4(CHEK2):c.1552A>G (p.Ser518Gly)
|
rs753560465
|
0.00001
|
|
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His)
|
rs948928965
|
0.00001
|
|
NM_007194.4(CHEK2):c.158C>G (p.Ser53Cys)
|
rs753204096
|
0.00001
|
|
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=)
|
rs786201796
|
0.00001
|
|
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys)
|
rs587781710
|
0.00001
|
|
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=)
|
rs758555487
|
0.00001
|
|
NM_007194.4(CHEK2):c.1609G>A (p.Ala537Thr)
|
rs1175957439
|
0.00001
|
|
NM_007194.4(CHEK2):c.1622C>T (p.Ala541Val)
|
rs2052180370
|
0.00001
|
|
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe)
|
rs730881695
|
0.00001
|
|
NM_007194.4(CHEK2):c.173G>C (p.Gly58Ala)
|
rs1569170717
|
0.00001
|
|
NM_007194.4(CHEK2):c.189A>G (p.Leu63=)
|
rs761028062
|
0.00001
|
|
NM_007194.4(CHEK2):c.194C>G (p.Thr65Arg)
|
rs864622684
|
0.00001
|
|
NM_007194.4(CHEK2):c.200C>A (p.Ser67Tyr)
|
rs886041171
|
0.00001
|
|
NM_007194.4(CHEK2):c.208G>A (p.Glu70Lys)
|
rs878854917
|
0.00001
|
|
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys)
|
rs769819013
|
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.253C>T (p.Pro85Ser)
|
rs1366081066
|
0.00001
|
|
NM_007194.4(CHEK2):c.255T>C (p.Pro85=)
|
rs1418971926
|
0.00001
|
|
NM_007194.4(CHEK2):c.269C>T (p.Pro90Leu)
|
rs758792132
|
0.00001
|
|
NM_007194.4(CHEK2):c.280G>A (p.Ala94Thr)
|
rs753860983
|
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.292G>A (p.Ala98Thr)
|
rs1300016035
|
0.00001
|
|
NM_007194.4(CHEK2):c.307T>C (p.Phe103Leu)
|
rs587781669
|
0.00001
|
|
NM_007194.4(CHEK2):c.30G>A (p.Gln10=)
|
rs1330700030
|
0.00001
|
|
NM_007194.4(CHEK2):c.315T>A (p.Asn105Lys)
|
rs1555932027
|
0.00001
|
|
NM_007194.4(CHEK2):c.319+1G>A
|
rs765080766
|
0.00001
|
|
NM_007194.4(CHEK2):c.319G>A (p.Glu107Lys)
|
rs775320614
|
0.00001
|
|
NM_007194.4(CHEK2):c.322T>A (p.Cys108Ser)
|
rs730881681
|
0.00001
|
|
NM_007194.4(CHEK2):c.32A>G (p.Gln11Arg)
|
rs369256181
|
0.00001
|
|
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser)
|
rs876660788
|
0.00001
|
|
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter)
|
rs756949505
|
0.00001
|
|
NM_007194.4(CHEK2):c.34T>A (p.Ser12Thr)
|
rs876661027
|
0.00001
|
|
NM_007194.4(CHEK2):c.350G>A (p.Arg117Lys)
|
rs587781982
|
0.00001
|
|
NM_007194.4(CHEK2):c.354C>A (p.Asp118Glu)
|
rs757340619
|
0.00001
|
|
NM_007194.4(CHEK2):c.356A>G (p.Lys119Arg)
|
rs373648967
|
0.00001
|
|
NM_007194.4(CHEK2):c.368A>G (p.Tyr123Cys)
|
rs876658557
|
0.00001
|
|
NM_007194.4(CHEK2):c.381A>G (p.Glu127=)
|
rs199929178
|
0.00001
|
|
NM_007194.4(CHEK2):c.383C>T (p.Pro128Leu)
|
rs587781879
|
0.00001
|
|
NM_007194.4(CHEK2):c.384A>G (p.Pro128=)
|
rs766409666
|
0.00001
|
|
NM_007194.4(CHEK2):c.391A>G (p.Lys131Glu)
|
rs1275395933
|
0.00001
|
|
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
|
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr)
|
rs1060502688
|
0.00001
|
|
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln)
|
rs587781667
|
0.00001
|
|
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu)
|
rs781678896
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+3A>G
|
rs587781279
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+4G>A
|
rs1434760802
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+5G>A
|
rs189961251
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+6T>C
|
rs1060502720
|
0.00001
|
|
NM_007194.4(CHEK2):c.445-10T>C
|
rs1060504692
|
0.00001
|
|
NM_007194.4(CHEK2):c.445-14G>A
|
rs2053950383
|
0.00001
|
|
NM_007194.4(CHEK2):c.445-15T>A
|
rs1064793595
|
0.00001
|
|
NM_007194.4(CHEK2):c.445-4T>C
|
rs1064795487
|
0.00001
|
|
NM_007194.4(CHEK2):c.446A>G (p.Glu149Gly)
|
rs786203794
|
0.00001
|
|
NM_007194.4(CHEK2):c.451G>T (p.Gly151Cys)
|
rs587781377
|
0.00001
|
|
NM_007194.4(CHEK2):c.468C>T (p.Tyr156=)
|
rs1555926996
|
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.497A>G (p.Asn166Ser)
|
rs587782413
|
0.00001
|
|
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)
|
rs72552322
|
0.00001
|
|
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile)
|
rs730881684
|
0.00001
|
|
NM_007194.4(CHEK2):c.507T>G (p.Phe169Leu)
|
rs876659233
|
0.00001
|
|
NM_007194.4(CHEK2):c.520C>T (p.Leu174Phe)
|
rs876659400
|
0.00001
|
|
NM_007194.4(CHEK2):c.528G>C (p.Gly176=)
|
rs587780889
|
0.00001
|
|
NM_007194.4(CHEK2):c.545C>A (p.Pro182His)
|
rs372168051
|
0.00001
|
|
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe)
|
rs745646057
|
0.00001
|
|
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser)
|
rs369223840
|
0.00001
|
|
NM_007194.4(CHEK2):c.558T>C (p.Asn186=)
|
rs1226489823
|
0.00001
|
|
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val)
|
rs587780185
|
0.00001
|
|
NM_007194.4(CHEK2):c.569C>T (p.Ala190Val)
|
rs786203483
|
0.00001
|
|
NM_007194.4(CHEK2):c.573G>C (p.Leu191=)
|
rs786201267
|
0.00001
|
|
NM_007194.4(CHEK2):c.575C>T (p.Ser192Leu)
|
rs899211928
|
0.00001
|
|
NM_007194.4(CHEK2):c.577_578del (p.Leu193fs)
|
rs775167943
|
0.00001
|
|
NM_007194.4(CHEK2):c.578T>C (p.Leu193Pro)
|
rs766599514
|
0.00001
|
|
NM_007194.4(CHEK2):c.592+18T>C
|
rs1206497698
|
0.00001
|
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
|
NM_007194.4(CHEK2):c.592+4A>G
|
rs375905418
|
0.00001
|
|
NM_007194.4(CHEK2):c.593-9C>T
|
rs1057517597
|
0.00001
|
|
NM_007194.4(CHEK2):c.59A>G (p.Gln20Arg)
|
rs753257724
|
0.00001
|
|
NM_007194.4(CHEK2):c.616G>A (p.Val206Ile)
|
rs876659871
|
0.00001
|
|
NM_007194.4(CHEK2):c.622del (p.Asp208fs)
|
rs773955899
|
0.00001
|
|
NM_007194.4(CHEK2):c.629C>T (p.Ser210Leu)
|
rs767253467
|
0.00001
|
|
NM_007194.4(CHEK2):c.62C>T (p.Pro21Leu)
|
rs1569171601
|
0.00001
|
|
NM_007194.4(CHEK2):c.645A>G (p.Ala215=)
|
rs761630560
|
0.00001
|
|
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val)
|
rs199749372
|
0.00001
|
|
NM_007194.4(CHEK2):c.665T>C (p.Met222Thr)
|
rs775134484
|
0.00001
|
|
NM_007194.4(CHEK2):c.683+10T>C
|
rs747427230
|
0.00001
|
|
NM_007194.4(CHEK2):c.683+9T>C
|
rs1060504691
|
0.00001
|
|
NM_007194.4(CHEK2):c.684-4C>G
|
rs121908695
|
0.00001
|
|
NM_007194.4(CHEK2):c.684-7_694del
|
rs1555921323
|
0.00001
|
|
NM_007194.4(CHEK2):c.686G>T (p.Gly229Val)
|
rs778212685
|
0.00001
|
|
NM_007194.4(CHEK2):c.692G>A (p.Cys231Tyr)
|
rs1555921335
|
0.00001
|
|
NM_007194.4(CHEK2):c.704A>G (p.Lys235Arg)
|
rs587782419
|
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.716A>G (p.Glu239Gly)
|
rs763892124
|
0.00001
|
|
NM_007194.4(CHEK2):c.717G>A (p.Glu239=)
|
rs1555921253
|
0.00001
|
|
NM_007194.4(CHEK2):c.723A>C (p.Lys241Asn)
|
rs1023861689
|
0.00001
|
|
NM_007194.4(CHEK2):c.726A>G (p.Thr242=)
|
rs150150389
|
0.00001
|
|
NM_007194.4(CHEK2):c.731A>G (p.Lys244Arg)
|
rs587778193
|
0.00001
|
|
NM_007194.4(CHEK2):c.73G>A (p.Val25Ile)
|
rs142243299
|
0.00001
|
|
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala)
|
rs587780188
|
0.00001
|
|
NM_007194.4(CHEK2):c.753C>T (p.Ile251=)
|
rs1422471902
|
0.00001
|
|
NM_007194.4(CHEK2):c.787G>C (p.Glu263Gln)
|
rs730881686
|
0.00001
|
|
NM_007194.4(CHEK2):c.792+10A>G
|
rs753836819
|
0.00001
|
|
NM_007194.4(CHEK2):c.792+11A>G
|
rs765935437
|
0.00001
|
|
NM_007194.4(CHEK2):c.792+17G>A
|
rs1057523609
|
0.00001
|
|
NM_007194.4(CHEK2):c.792+18G>A
|
rs1385038498
|
0.00001
|
|
NM_007194.4(CHEK2):c.792+19C>T
|
rs1057522960
|
0.00001
|
|
NM_007194.4(CHEK2):c.792+2T>C
|
rs545982789
|
0.00001
|
|
NM_007194.4(CHEK2):c.792+5G>C
|
rs876658514
|
0.00001
|
|
NM_007194.4(CHEK2):c.793-4A>G
|
rs1212612057
|
0.00001
|
|
NM_007194.4(CHEK2):c.793G>C (p.Asp265His)
|
rs1064793689
|
0.00001
|
|
NM_007194.4(CHEK2):c.817G>C (p.Glu273Gln)
|
rs587782152
|
0.00001
|
|
NM_007194.4(CHEK2):c.818A>C (p.Glu273Ala)
|
rs755666375
|
0.00001
|
|
NM_007194.4(CHEK2):c.823G>C (p.Glu275Gln)
|
rs749963436
|
0.00001
|
|
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser)
|
rs587782196
|
0.00001
|
|
NM_007194.4(CHEK2):c.846+12T>C
|
rs1057524077
|
0.00001
|
|
NM_007194.4(CHEK2):c.846+1G>C
|
rs864622149
|
0.00001
|
|
NM_007194.4(CHEK2):c.846+3A>G
|
rs1476026799
|
0.00001
|
|
NM_007194.4(CHEK2):c.846+5G>A
|
rs764394796
|
0.00001
|
|
NM_007194.4(CHEK2):c.846+7A>G
|
rs763340730
|
0.00001
|
|
NM_007194.4(CHEK2):c.847-7T>G
|
rs1057520267
|
0.00001
|
|
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr)
|
rs876658150
|
0.00001
|
|
NM_007194.4(CHEK2):c.855C>G (p.Ile285Met)
|
rs756692505
|
0.00001
|
|
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)
|
rs761494650
|
0.00001
|
|
NM_007194.4(CHEK2):c.875T>C (p.Phe292Ser)
|
rs2052979739
|
0.00001
|
|
NM_007194.4(CHEK2):c.886G>T (p.Asp296Tyr)
|
rs876659553
|
0.00001
|
|
NM_007194.4(CHEK2):c.8G>A (p.Arg3Gln)
|
rs779607427
|
0.00001
|
|
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys)
|
rs587782460
|
0.00001
|
|
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp)
|
rs587780190
|
0.00001
|
|
NM_007194.4(CHEK2):c.908+10A>G
|
rs774973319
|
0.00001
|
|
NM_007194.4(CHEK2):c.908+16T>G
|
rs1198651411
|
0.00001
|
|
NM_007194.4(CHEK2):c.908+18T>A
|
rs755416802
|
0.00001
|
|
NM_007194.4(CHEK2):c.908T>C (p.Leu303Ser)
|
rs1233699096
|
0.00001
|
|
NM_007194.4(CHEK2):c.909G>C (p.Leu303Phe)
|
rs786202256
|
0.00001
|
|
NM_007194.4(CHEK2):c.911T>C (p.Met304Thr)
|
rs587782033
|
0.00001
|
|
NM_007194.4(CHEK2):c.912G>A (p.Met304Ile)
|
rs1156943614
|
0.00001
|
|
NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp)
|
rs587780191
|
0.00001
|
|
NM_007194.4(CHEK2):c.916G>C (p.Gly306Arg)
|
rs587783051
|
0.00001
|
|
NM_007194.4(CHEK2):c.934A>G (p.Lys312Glu)
|
rs1064795532
|
0.00001
|
|
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu)
|
rs587782416
|
0.00001
|
|
NM_007194.4(CHEK2):c.954C>T (p.Arg318=)
|
rs1601738778
|
0.00001
|
|
NM_007194.4(CHEK2):c.974A>T (p.Lys325Met)
|
rs767656411
|
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_007294.4(BRCA1):c.-44C>T
|
rs1262271602
|
0.00001
|
|
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn)
|
rs56056711
|
0.00001
|
|
NM_007294.4(BRCA1):c.135-1G>T
|
rs80358158
|
0.00001
|
|
NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu)
|
rs62625300
|
0.00001
|
|
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)
|
rs199540030
|
0.00001
|
|
NM_007294.4(BRCA1):c.144G>A (p.Met48Ile)
|
rs587783040
|
0.00001
|
|
NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys)
|
rs80357445
|
0.00001
|
|
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
|
rs80356898
|
0.00001
|
|
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met)
|
rs786202386
|
0.00001
|
|
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser)
|
rs397508934
|
0.00001
|
|
NM_007294.4(BRCA1):c.20G>A (p.Arg7His)
|
rs144792613
|
0.00001
|
|
NM_007294.4(BRCA1):c.212+3A>G
|
rs80358083
|
0.00001
|
|
NM_007294.4(BRCA1):c.213-11T>G
|
rs80358061
|
0.00001
|
|
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)
|
rs80357233
|
0.00001
|
|
NM_007294.4(BRCA1):c.2183G>A (p.Arg728Lys)
|
rs80357335
|
0.00001
|
|
NM_007294.4(BRCA1):c.2207A>C (p.Glu736Ala)
|
rs397507196
|
0.00001
|
|
NM_007294.4(BRCA1):c.2295G>A (p.Glu765=)
|
rs201875054
|
0.00001
|
|
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val)
|
rs80356948
|
0.00001
|
|
NM_007294.4(BRCA1):c.2362G>A (p.Val788Ile)
|
rs80357060
|
0.00001
|
|
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
|
rs80357970
|
0.00001
|
|
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu)
|
rs80356927
|
0.00001
|
|
NM_007294.4(BRCA1):c.2765C>G (p.Thr922Arg)
|
rs80357460
|
0.00001
|
|
NM_007294.4(BRCA1):c.2882A>G (p.Asn961Ser)
|
rs879254130
|
0.00001
|
|
NM_007294.4(BRCA1):c.301+12A>C
|
rs863224757
|
0.00001
|
|
NM_007294.4(BRCA1):c.301+6T>C
|
rs753859240
|
0.00001
|
|
NM_007294.4(BRCA1):c.3086A>G (p.Asn1029Ser)
|
rs753286589
|
0.00001
|
|
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser)
|
rs80357272
|
0.00001
|
|
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs)
|
rs80357509
|
0.00001
|
|
NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val)
|
rs587782458
|
0.00001
|
|
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
|
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)
|
rs80357729
|
0.00001
|
|
NM_007294.4(BRCA1):c.3650C>G (p.Ser1217Cys)
|
rs398122676
|
0.00001
|
|
NM_007294.4(BRCA1):c.3662A>C (p.Glu1221Ala)
|
rs273900713
|
0.00001
|
|
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met)
|
rs80357388
|
0.00001
|
|
NM_007294.4(BRCA1):c.3784T>C (p.Ser1262Pro)
|
rs1011096937
|
0.00001
|
|
NM_007294.4(BRCA1):c.3848A>G (p.His1283Arg)
|
rs80357047
|
0.00001
|
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
|
NM_007294.4(BRCA1):c.4126A>G (p.Thr1376Ala)
|
rs576828558
|
0.00001
|
|
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg)
|
rs80356986
|
0.00001
|
|
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)
|
rs78951648
|
0.00001
|
|
NM_007294.4(BRCA1):c.4231A>G (p.Met1411Val)
|
rs587781768
|
0.00001
|
|
NM_007294.4(BRCA1):c.4243del (p.Glu1415fs)
|
rs80357981
|
0.00001
|
|
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=)
|
rs80356840
|
0.00001
|
|
NM_007294.4(BRCA1):c.4384G>A (p.Glu1462Lys)
|
rs141255461
|
0.00001
|
|
NM_007294.4(BRCA1):c.4417T>C (p.Ser1473Pro)
|
rs398122686
|
0.00001
|
|
NM_007294.4(BRCA1):c.4484+15T>C
|
rs760275914
|
0.00001
|
|
NM_007294.4(BRCA1):c.4485-10A>G
|
rs863224420
|
0.00001
|
|
NM_007294.4(BRCA1):c.4485-1G>A
|
rs80358189
|
0.00001
|
|
NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter)
|
rs80357437
|
0.00001
|
|
NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter)
|
rs80357366
|
0.00001
|
|
NM_007294.4(BRCA1):c.463C>G (p.Gln155Glu)
|
rs80357180
|
0.00001
|
|
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile)
|
rs80357076
|
0.00001
|
|
NM_007294.4(BRCA1):c.465A>T (p.Gln155His)
|
rs864622260
|
0.00001
|
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
|
NM_007294.4(BRCA1):c.4776C>G (p.Asn1592Lys)
|
rs761925468
|
0.00001
|
|
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)
|
rs80356987
|
0.00001
|
|
NM_007294.4(BRCA1):c.4848T>C (p.Ala1616=)
|
rs1480250917
|
0.00001
|
|
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu)
|
rs80357048
|
0.00001
|
|
NM_007294.4(BRCA1):c.4987-11T>C
|
rs80358170
|
0.00001
|
|
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)
|
rs80187739
|
0.00001
|
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
|
NM_007294.4(BRCA1):c.5100A>G (p.Thr1700=)
|
rs45519437
|
0.00001
|
|
NM_007294.4(BRCA1):c.5136G>A (p.Trp1712Ter)
|
rs80357418
|
0.00001
|
|
NM_007294.4(BRCA1):c.5153-13A>G
|
rs45471406
|
0.00001
|
|
NM_007294.4(BRCA1):c.527C>T (p.Thr176Met)
|
rs587782747
|
0.00001
|
|
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly)
|
rs80357041
|
0.00001
|
|
NM_007294.4(BRCA1):c.535T>C (p.Tyr179His)
|
rs587781761
|
0.00001
|
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
|
NM_007294.4(BRCA1):c.548-15G>A
|
rs755221482
|
0.00001
|
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
|
NM_007294.4(BRCA1):c.5585A>T (p.His1862Leu)
|
rs80357183
|
0.00001
|
|
NM_007294.4(BRCA1):c.655G>A (p.Asp219Asn)
|
rs273902779
|
0.00001
|
|
NM_007294.4(BRCA1):c.80+7C>T
|
rs80358098
|
0.00001
|
|
NM_007294.4(BRCA1):c.810T>C (p.His270=)
|
rs778359104
|
0.00001
|
|
NM_007294.4(BRCA1):c.825C>T (p.Gly275=)
|
rs397509328
|
0.00001
|
|
NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg)
|
rs748156170
|
0.00001
|
|
NM_015297.3(PHF24):c.242G>A (p.Arg81Gln)
|
rs374394658
|
0.00001
|
|
NM_021098.3(CACNA1H):c.1624G>A (p.Glu542Lys)
|
rs761025927
|
0.00001
|
|
NM_024675.4(PALB2):c.-25C>A
|
rs515726056
|
0.00001
|
|
NM_024675.4(PALB2):c.1004A>G (p.Asn335Ser)
|
rs1368473544
|
0.00001
|
|
NM_024675.4(PALB2):c.1006A>C (p.Asn336His)
|
rs1060502774
|
0.00001
|
|
NM_024675.4(PALB2):c.1013C>T (p.Pro338Leu)
|
rs1316239336
|
0.00001
|
|
NM_024675.4(PALB2):c.1033T>C (p.Leu345=)
|
rs786201393
|
0.00001
|
|
NM_024675.4(PALB2):c.1038A>G (p.Lys346=)
|
rs515726059
|
0.00001
|
|
NM_024675.4(PALB2):c.1052C>A (p.Thr351Lys)
|
rs876658656
|
0.00001
|
|
NM_024675.4(PALB2):c.1066A>G (p.Lys356Glu)
|
rs1202130508
|
0.00001
|
|
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly)
|
rs876659751
|
0.00001
|
|
NM_024675.4(PALB2):c.108+11C>T
|
rs754110994
|
0.00001
|
|
NM_024675.4(PALB2):c.108+1G>A
|
rs1060499814
|
0.00001
|
|
NM_024675.4(PALB2):c.108+6T>G
|
rs1567224136
|
0.00001
|
|
NM_024675.4(PALB2):c.108+8A>G
|
rs1419065219
|
0.00001
|
|
NM_024675.4(PALB2):c.109-4C>G
|
rs778124229
|
0.00001
|
|
NM_024675.4(PALB2):c.109-5T>C
|
rs749299119
|
0.00001
|
|
NM_024675.4(PALB2):c.109-7C>T
|
rs368705933
|
0.00001
|
|
NM_024675.4(PALB2):c.1092C>T (p.Gly364=)
|
rs1966994380
|
0.00001
|
|
NM_024675.4(PALB2):c.10C>T (p.Pro4Ser)
|
rs587782483
|
0.00001
|
|
NM_024675.4(PALB2):c.1104T>A (p.Asn368Lys)
|
rs1348407391
|
0.00001
|
|
NM_024675.4(PALB2):c.1110G>A (p.Gln370=)
|
rs756002989
|
0.00001
|
|
NM_024675.4(PALB2):c.1111G>A (p.Glu371Lys)
|
rs1312378621
|
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.1130A>C (p.Gln377Pro)
|
rs1358484245
|
0.00001
|
|
NM_024675.4(PALB2):c.113C>T (p.Ala38Val)
|
rs371875379
|
0.00001
|
|
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)
|
rs1257545151
|
0.00001
|
|
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)
|
rs515726063
|
0.00001
|
|
NM_024675.4(PALB2):c.1156A>G (p.Thr386Ala)
|
rs148102335
|
0.00001
|
|
NM_024675.4(PALB2):c.1164T>C (p.Pro388=)
|
rs1205215998
|
0.00001
|
|
NM_024675.4(PALB2):c.1169C>T (p.Ser390Phe)
|
rs1555461425
|
0.00001
|
|
NM_024675.4(PALB2):c.1173A>G (p.Ala391=)
|
rs1346057856
|
0.00001
|
|
NM_024675.4(PALB2):c.1178A>G (p.Lys393Arg)
|
rs765898856
|
0.00001
|
|
NM_024675.4(PALB2):c.1179A>G (p.Lys393=)
|
rs976340416
|
0.00001
|
|
NM_024675.4(PALB2):c.1181A>T (p.His394Leu)
|
rs762430363
|
0.00001
|
|
NM_024675.4(PALB2):c.1184C>G (p.Ser395Cys)
|
rs764796329
|
0.00001
|
|
NM_024675.4(PALB2):c.1188C>T (p.Cys396=)
|
rs587780817
|
0.00001
|
|
NM_024675.4(PALB2):c.1192G>A (p.Val398Met)
|
rs769097541
|
0.00001
|
|
NM_024675.4(PALB2):c.119G>A (p.Arg40Lys)
|
rs573118236
|
0.00001
|
|
NM_024675.4(PALB2):c.1202G>T (p.Gly401Val)
|
rs1462655583
|
0.00001
|
|
NM_024675.4(PALB2):c.1210T>C (p.Phe404Leu)
|
rs1064793221
|
0.00001
|
|
NM_024675.4(PALB2):c.1212T>G (p.Phe404Leu)
|
rs148921082
|
0.00001
|
|
NM_024675.4(PALB2):c.1230T>C (p.Val410=)
|
rs587780818
|
0.00001
|
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
|
NM_024675.4(PALB2):c.1241G>A (p.Arg414Gln)
|
rs749461008
|
0.00001
|
|
NM_024675.4(PALB2):c.1246A>G (p.Met416Val)
|
rs1966982055
|
0.00001
|
|
NM_024675.4(PALB2):c.1257C>T (p.Cys419=)
|
rs786201086
|
0.00001
|
|
NM_024675.4(PALB2):c.1258C>T (p.Gln420Ter)
|
rs587782446
|
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.1311A>G (p.Lys437=)
|
rs190489275
|
0.00001
|
|
NM_024675.4(PALB2):c.1343G>A (p.Ser448Asn)
|
rs956172059
|
0.00001
|
|
NM_024675.4(PALB2):c.1348A>C (p.Asn450His)
|
rs62625274
|
0.00001
|
|
NM_024675.4(PALB2):c.1351T>G (p.Leu451Val)
|
rs772691867
|
0.00001
|
|
NM_024675.4(PALB2):c.1361C>T (p.Ser454Phe)
|
rs587782842
|
0.00001
|
|
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser)
|
rs587781824
|
0.00001
|
|
NM_024675.4(PALB2):c.137A>G (p.His46Arg)
|
rs1290624507
|
0.00001
|
|
NM_024675.4(PALB2):c.1380A>G (p.Gln460=)
|
rs372641262
|
0.00001
|
|
NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg)
|
rs768482110
|
0.00001
|
|
NM_024675.4(PALB2):c.1395G>A (p.Met465Ile)
|
rs746805049
|
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.1418C>T (p.Pro473Leu)
|
rs1288887287
|
0.00001
|
|
NM_024675.4(PALB2):c.1446C>G (p.Leu482=)
|
rs368759893
|
0.00001
|
|
NM_024675.4(PALB2):c.1448C>T (p.Ser483Leu)
|
rs1057520736
|
0.00001
|
|
NM_024675.4(PALB2):c.1462A>G (p.Ser488Gly)
|
rs753124503
|
0.00001
|
|
NM_024675.4(PALB2):c.1468C>G (p.Pro490Ala)
|
rs878855101
|
0.00001
|
|
NM_024675.4(PALB2):c.1488T>C (p.Asp496=)
|
rs1381339723
|
0.00001
|
|
NM_024675.4(PALB2):c.1491T>G (p.Asn497Lys)
|
rs374707677
|
0.00001
|
|
NM_024675.4(PALB2):c.1503G>A (p.Arg501=)
|
rs1060504705
|
0.00001
|
|
NM_024675.4(PALB2):c.1526G>A (p.Gly509Asp)
|
rs786203176
|
0.00001
|
|
NM_024675.4(PALB2):c.1534T>A (p.Tyr512Asn)
|
rs1966959567
|
0.00001
|
|
NM_024675.4(PALB2):c.1538C>T (p.Thr513Ile)
|
rs778890869
|
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.1553C>T (p.Ser518Leu)
|
rs1060502805
|
0.00001
|
|
NM_024675.4(PALB2):c.1556C>A (p.Ala519Asp)
|
rs1340452845
|
0.00001
|
|
NM_024675.4(PALB2):c.1557C>T (p.Ala519=)
|
rs752349785
|
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.1597A>G (p.Thr533Ala)
|
rs1393117824
|
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.1616_1617dup (p.Asn540fs)
|
rs786203346
|
0.00001
|
|
NM_024675.4(PALB2):c.161A>G (p.Glu54Gly)
|
rs730881898
|
0.00001
|
|
NM_024675.4(PALB2):c.1620C>T (p.Asn540=)
|
rs771815436
|
0.00001
|
|
NM_024675.4(PALB2):c.1627A>G (p.Lys543Glu)
|
rs770908238
|
0.00001
|
|
NM_024675.4(PALB2):c.1628A>C (p.Lys543Thr)
|
rs370468259
|
0.00001
|
|
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)
|
rs180177103
|
0.00001
|
|
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)
|
rs118203997
|
0.00001
|
|
NM_024675.4(PALB2):c.1655A>G (p.Gln552Arg)
|
rs375611746
|
0.00001
|
|
NM_024675.4(PALB2):c.1658A>G (p.His553Arg)
|
rs1482172344
|
0.00001
|
|
NM_024675.4(PALB2):c.1659C>G (p.His553Gln)
|
rs370318597
|
0.00001
|
|
NM_024675.4(PALB2):c.1660G>A (p.Glu554Lys)
|
rs377486858
|
0.00001
|
|
NM_024675.4(PALB2):c.1662A>G (p.Glu554=)
|
rs786202692
|
0.00001
|
|
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter)
|
rs1555461154
|
0.00001
|
|
NM_024675.4(PALB2):c.1685-14T>A
|
rs780772404
|
0.00001
|
|
NM_024675.4(PALB2):c.1685-3T>C
|
rs1254059410
|
0.00001
|
|
NM_024675.4(PALB2):c.1691A>G (p.Lys564Arg)
|
rs62625276
|
0.00001
|
|
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)
|
rs746582620
|
0.00001
|
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
rs144617793
|
0.00001
|
|
NM_024675.4(PALB2):c.1715C>T (p.Ser572Phe)
|
rs757397623
|
0.00001
|
|
NM_024675.4(PALB2):c.1720T>C (p.Ser574Pro)
|
rs1214293842
|
0.00001
|
|
NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile)
|
rs587780207
|
0.00001
|
|
NM_024675.4(PALB2):c.1742T>C (p.Leu581Ser)
|
rs1060502755
|
0.00001
|
|
NM_024675.4(PALB2):c.1759G>A (p.Ala587Thr)
|
rs1060502733
|
0.00001
|
|
NM_024675.4(PALB2):c.1765A>G (p.Thr589Ala)
|
rs1437053825
|
0.00001
|
|
NM_024675.4(PALB2):c.1772C>A (p.Pro591Gln)
|
rs761773470
|
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.1803G>C (p.Lys601Asn)
|
rs1555460643
|
0.00001
|
|
NM_024675.4(PALB2):c.1814C>T (p.Ser605Phe)
|
rs876658992
|
0.00001
|
|
NM_024675.4(PALB2):c.1843C>A (p.Pro615Thr)
|
rs1019525144
|
0.00001
|
|
NM_024675.4(PALB2):c.1858G>C (p.Gly620Arg)
|
rs777940379
|
0.00001
|
|
NM_024675.4(PALB2):c.1883A>C (p.Lys628Thr)
|
rs954390684
|
0.00001
|
|
NM_024675.4(PALB2):c.1885T>C (p.Ser629Pro)
|
rs1567218578
|
0.00001
|
|
NM_024675.4(PALB2):c.1886C>T (p.Ser629Phe)
|
rs1169756751
|
0.00001
|
|
NM_024675.4(PALB2):c.1891T>C (p.Ser631Pro)
|
rs1555460600
|
0.00001
|
|
NM_024675.4(PALB2):c.1903G>A (p.Val635Met)
|
rs776389696
|
0.00001
|
|
NM_024675.4(PALB2):c.1908G>A (p.Glu636=)
|
rs1392612467
|
0.00001
|
|
NM_024675.4(PALB2):c.1909C>T (p.Pro637Ser)
|
rs768248338
|
0.00001
|
|
NM_024675.4(PALB2):c.1923A>G (p.Lys641=)
|
rs775283927
|
0.00001
|
|
NM_024675.4(PALB2):c.1936A>G (p.Arg646Gly)
|
rs1303399070
|
0.00001
|
|
NM_024675.4(PALB2):c.1941T>C (p.His647=)
|
rs745467835
|
0.00001
|
|
NM_024675.4(PALB2):c.1956C>T (p.Ser652=)
|
rs1597090632
|
0.00001
|
|
NM_024675.4(PALB2):c.1958G>A (p.Cys653Tyr)
|
rs771246748
|
0.00001
|
|
NM_024675.4(PALB2):c.195G>A (p.Pro65=)
|
rs751176316
|
0.00001
|
|
NM_024675.4(PALB2):c.1960A>G (p.Ile654Val)
|
rs749842477
|
0.00001
|
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
0.00001
|
|
NM_024675.4(PALB2):c.1975C>G (p.Leu659Val)
|
rs906858995
|
0.00001
|
|
NM_024675.4(PALB2):c.1985A>G (p.Lys662Arg)
|
rs1441798714
|
0.00001
|
|
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)
|
rs62625277
|
0.00001
|
|
NM_024675.4(PALB2):c.1990A>C (p.Met664Leu)
|
rs752714298
|
0.00001
|
|
NM_024675.4(PALB2):c.2009A>G (p.Asp670Gly)
|
rs781352462
|
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.2026A>C (p.Ile676Leu)
|
rs761478794
|
0.00001
|
|
NM_024675.4(PALB2):c.2028T>G (p.Ile676Met)
|
rs763937788
|
0.00001
|
|
NM_024675.4(PALB2):c.2047C>T (p.His683Tyr)
|
rs1555460511
|
0.00001
|
|
NM_024675.4(PALB2):c.206A>C (p.His69Pro)
|
rs749443090
|
0.00001
|
|
NM_024675.4(PALB2):c.206A>T (p.His69Leu)
|
rs749443090
|
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.2088G>A (p.Thr696=)
|
rs747270311
|
0.00001
|
|
NM_024675.4(PALB2):c.2096C>G (p.Ser699Cys)
|
rs780397699
|
0.00001
|
|
NM_024675.4(PALB2):c.2103C>T (p.Ser701=)
|
rs753583700
|
0.00001
|
|
NM_024675.4(PALB2):c.2104A>C (p.Ile702Leu)
|
rs587781888
|
0.00001
|
|
NM_024675.4(PALB2):c.2107T>C (p.Leu703=)
|
rs756030419
|
0.00001
|
|
NM_024675.4(PALB2):c.2108T>G (p.Leu703Ter)
|
rs752592662
|
0.00001
|
|
NM_024675.4(PALB2):c.211+14A>G
|
rs1057520341
|
0.00001
|
|
NM_024675.4(PALB2):c.2116A>G (p.Thr706Ala)
|
rs767056829
|
0.00001
|
|
NM_024675.4(PALB2):c.2117C>T (p.Thr706Ile)
|
rs587780209
|
0.00001
|
|
NM_024675.4(PALB2):c.212-16T>G
|
rs1435563021
|
0.00001
|
|
NM_024675.4(PALB2):c.212-33A>C
|
rs515726079
|
0.00001
|
|
NM_024675.4(PALB2):c.212-6C>T
|
rs1416424510
|
0.00001
|
|
NM_024675.4(PALB2):c.212-7T>C
|
rs755601819
|
0.00001
|
|
NM_024675.4(PALB2):c.2125A>T (p.Asn709Tyr)
|
rs1286704342
|
0.00001
|
|
NM_024675.4(PALB2):c.2129C>T (p.Thr710Met)
|
rs759024828
|
0.00001
|
|
NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro)
|
rs765942523
|
0.00001
|
|
NM_024675.4(PALB2):c.2140G>A (p.Asp714Asn)
|
rs45537237
|
0.00001
|
|
NM_024675.4(PALB2):c.2163A>C (p.Thr721=)
|
rs587781105
|
0.00001
|
|
NM_024675.4(PALB2):c.2165A>G (p.Asp722Gly)
|
rs941888035
|
0.00001
|
|
NM_024675.4(PALB2):c.2167A>T (p.Met723Leu)
|
rs876660336
|
0.00001
|
|
NM_024675.4(PALB2):c.2197A>G (p.Thr733Ala)
|
rs879254051
|
0.00001
|
|
NM_024675.4(PALB2):c.21G>A (p.Lys7=)
|
rs1424944402
|
0.00001
|
|
NM_024675.4(PALB2):c.2204C>T (p.Pro735Leu)
|
rs199743500
|
0.00001
|
|
NM_024675.4(PALB2):c.2207C>T (p.Ala736Val)
|
rs746056001
|
0.00001
|
|
NM_024675.4(PALB2):c.2224T>G (p.Ser742Ala)
|
rs752682542
|
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.2290A>G (p.Lys764Glu)
|
rs573744591
|
0.00001
|
|
NM_024675.4(PALB2):c.229T>C (p.Cys77Arg)
|
rs760045493
|
0.00001
|
|
NM_024675.4(PALB2):c.229del (p.Cys77fs)
|
rs180177084
|
0.00001
|
|
NM_024675.4(PALB2):c.2311A>G (p.Ser771Gly)
|
rs786202846
|
0.00001
|
|
NM_024675.4(PALB2):c.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.2342G>A (p.Ser781Asn)
|
rs761298847
|
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.235T>C (p.Tyr79His)
|
rs1060502740
|
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.2399G>C (p.Cys800Ser)
|
rs757899898
|
0.00001
|
|
NM_024675.4(PALB2):c.2401G>A (p.Asp801Asn)
|
rs587782765
|
0.00001
|
|
NM_024675.4(PALB2):c.2403C>G (p.Asp801Glu)
|
rs876659364
|
0.00001
|
|
NM_024675.4(PALB2):c.2411C>T (p.Ser804Phe)
|
rs149836639
|
0.00001
|
|
NM_024675.4(PALB2):c.2413G>T (p.Val805Phe)
|
rs876659475
|
0.00001
|
|
NM_024675.4(PALB2):c.2415C>T (p.Val805=)
|
rs756996540
|
0.00001
|
|
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu)
|
rs774502617
|
0.00001
|
|
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)
|
rs763191051
|
0.00001
|
|
NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser)
|
rs370908330
|
0.00001
|
|
NM_024675.4(PALB2):c.2456A>G (p.Lys819Arg)
|
rs587778585
|
0.00001
|
|
NM_024675.4(PALB2):c.2478C>T (p.Asn826=)
|
rs786201885
|
0.00001
|
|
NM_024675.4(PALB2):c.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.2503T>A (p.Ser835Thr)
|
rs1343435250
|
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.2512C>G (p.Gln838Glu)
|
rs750650768
|
0.00001
|
|
NM_024675.4(PALB2):c.2514+14C>A
|
rs1192734360
|
0.00001
|
|
NM_024675.4(PALB2):c.2514+20T>C
|
rs1555460289
|
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.2514+8C>T
|
rs1060504706
|
0.00001
|
|
NM_024675.4(PALB2):c.2515-11T>C
|
rs780521904
|
0.00001
|
|
NM_024675.4(PALB2):c.2515-14T>A
|
rs752108348
|
0.00001
|
|
NM_024675.4(PALB2):c.2522C>T (p.Thr841Ile)
|
rs1373085553
|
0.00001
|
|
NM_024675.4(PALB2):c.2556A>G (p.Pro852=)
|
rs1256170688
|
0.00001
|
|
NM_024675.4(PALB2):c.2559C>T (p.Gly853=)
|
rs180177115
|
0.00001
|
|
NM_024675.4(PALB2):c.2568A>C (p.Gln856His)
|
rs587781708
|
0.00001
|
|
NM_024675.4(PALB2):c.2569T>C (p.Leu857=)
|
rs786201642
|
0.00001
|
|
NM_024675.4(PALB2):c.2586G>C (p.Lys862Asn)
|
rs876658279
|
0.00001
|
|
NM_024675.4(PALB2):c.2587-12C>T
|
rs1266683395
|
0.00001
|
|
NM_024675.4(PALB2):c.2587-16G>T
|
rs1057522563
|
0.00001
|
|
NM_024675.4(PALB2):c.2587-25A>G
|
rs772989395
|
0.00001
|
|
NM_024675.4(PALB2):c.2587A>G (p.Asn863Asp)
|
rs776407568
|
0.00001
|
|
NM_024675.4(PALB2):c.2596G>T (p.Gly866Cys)
|
rs780415750
|
0.00001
|
|
NM_024675.4(PALB2):c.2597G>A (p.Gly866Asp)
|
rs62625279
|
0.00001
|
|
NM_024675.4(PALB2):c.2603G>A (p.Cys868Tyr)
|
rs772398814
|
0.00001
|
|
NM_024675.4(PALB2):c.2606C>T (p.Ser869Phe)
|
rs779279139
|
0.00001
|
|
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)
|
rs587782387
|
0.00001
|
|
NM_024675.4(PALB2):c.2624T>C (p.Met875Thr)
|
rs878855110
|
0.00001
|
|
NM_024675.4(PALB2):c.2640C>T (p.Ala880=)
|
rs752928633
|
0.00001
|
|
NM_024675.4(PALB2):c.2650G>A (p.Glu884Lys)
|
rs1304351755
|
0.00001
|
|
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr)
|
rs878855111
|
0.00001
|
|
NM_024675.4(PALB2):c.2659A>G (p.Ile887Val)
|
rs533814557
|
0.00001
|
|
NM_024675.4(PALB2):c.2673C>T (p.Cys891=)
|
rs78179744
|
0.00001
|
|
NM_024675.4(PALB2):c.2677G>T (p.Asp893Tyr)
|
rs765077104
|
0.00001
|
|
NM_024675.4(PALB2):c.2707G>A (p.Ala903Thr)
|
rs1324636666
|
0.00001
|
|
NM_024675.4(PALB2):c.2720A>G (p.Glu907Gly)
|
rs45504298
|
0.00001
|
|
NM_024675.4(PALB2):c.2725C>G (p.Leu909Val)
|
rs1060502739
|
0.00001
|
|
NM_024675.4(PALB2):c.2732C>A (p.Thr911Asn)
|
rs180177123
|
0.00001
|
|
NM_024675.4(PALB2):c.2744C>T (p.Ala915Val)
|
rs1459102959
|
0.00001
|
|
NM_024675.4(PALB2):c.2748+13C>G
|
rs771355581
|
0.00001
|
|
NM_024675.4(PALB2):c.2748+2dup
|
rs1370694908
|
0.00001
|
|
NM_024675.4(PALB2):c.2748+8G>A
|
rs1188895680
|
0.00001
|
|
NM_024675.4(PALB2):c.2750T>C (p.Val917Ala)
|
rs763645981
|
0.00001
|
|
NM_024675.4(PALB2):c.2753C>A (p.Pro918Gln)
|
rs587780822
|
0.00001
|
|
NM_024675.4(PALB2):c.2780A>T (p.Asp927Val)
|
rs62625280
|
0.00001
|
|
NM_024675.4(PALB2):c.2781T>A (p.Asp927Glu)
|
rs1373766717
|
0.00001
|
|
NM_024675.4(PALB2):c.2782G>A (p.Val928Met)
|
rs771288520
|
0.00001
|
|
NM_024675.4(PALB2):c.2784G>A (p.Val928=)
|
rs763411245
|
0.00001
|
|
NM_024675.4(PALB2):c.2788A>T (p.Asn930Tyr)
|
rs1227325413
|
0.00001
|
|
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg)
|
rs773831304
|
0.00001
|
|
NM_024675.4(PALB2):c.2797T>G (p.Cys933Gly)
|
rs1295650692
|
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.2831T>G (p.Ile944Ser)
|
rs201817103
|
0.00001
|
|
NM_024675.4(PALB2):c.2832C>G (p.Ile944Met)
|
rs1555459704
|
0.00001
|
|
NM_024675.4(PALB2):c.2834+11C>T
|
rs755983937
|
0.00001
|
|
NM_024675.4(PALB2):c.2834+16G>A
|
rs1218761844
|
0.00001
|
|
NM_024675.4(PALB2):c.2834+19G>A
|
rs1167305954
|
0.00001
|
|
NM_024675.4(PALB2):c.2834+20T>C
|
rs515726097
|
0.00001
|
|
NM_024675.4(PALB2):c.2834+5G>A
|
rs570455216
|
0.00001
|
|
NM_024675.4(PALB2):c.2834+7A>G
|
rs1468310581
|
0.00001
|
|
NM_024675.4(PALB2):c.2834+8A>G
|
rs1378802379
|
0.00001
|
|
NM_024675.4(PALB2):c.2835-11A>G
|
rs747232850
|
0.00001
|
|
NM_024675.4(PALB2):c.2846G>A (p.Cys949Tyr)
|
rs587778588
|
0.00001
|
|
NM_024675.4(PALB2):c.2855A>T (p.Asp952Val)
|
rs373280855
|
0.00001
|
|
NM_024675.4(PALB2):c.2859T>C (p.Asp953=)
|
rs515726101
|
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.2881C>T (p.Leu961=)
|
rs61755166
|
0.00001
|
|
NM_024675.4(PALB2):c.2888del (p.Ser963fs)
|
rs587776420
|
0.00001
|
|
NM_024675.4(PALB2):c.2896A>G (p.Ile966Val)
|
rs786204248
|
0.00001
|
|
NM_024675.4(PALB2):c.290C>A (p.Ser97Tyr)
|
rs776902295
|
0.00001
|
|
NM_024675.4(PALB2):c.2920A>G (p.Lys974Glu)
|
rs1418709183
|
0.00001
|
|
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn)
|
rs730881892
|
0.00001
|
|
NM_024675.4(PALB2):c.2928G>T (p.Arg976Ser)
|
rs878855115
|
0.00001
|
|
NM_024675.4(PALB2):c.292A>G (p.Ile98Val)
|
rs587782831
|
0.00001
|
|
NM_024675.4(PALB2):c.2935A>C (p.Ser979Arg)
|
rs751227032
|
0.00001
|
|
NM_024675.4(PALB2):c.2955T>G (p.Ser985=)
|
rs765643734
|
0.00001
|
|
NM_024675.4(PALB2):c.2965G>A (p.Val989Ile)
|
rs764140747
|
0.00001
|
|
NM_024675.4(PALB2):c.2968G>C (p.Glu990Gln)
|
rs876659036
|
0.00001
|
|
NM_024675.4(PALB2):c.2971G>T (p.Val991Phe)
|
rs765175665
|
0.00001
|
|
NM_024675.4(PALB2):c.2985A>T (p.Ala995=)
|
rs786202892
|
0.00001
|
|
NM_024675.4(PALB2):c.2992G>A (p.Gly998Arg)
|
rs1039184417
|
0.00001
|
|
NM_024675.4(PALB2):c.2995G>A (p.Gly999Arg)
|
rs1269970394
|
0.00001
|
|
NM_024675.4(PALB2):c.2996+10G>T
|
rs773023007
|
0.00001
|
|
NM_024675.4(PALB2):c.2996+3A>C
|
rs876659931
|
0.00001
|
|
NM_024675.4(PALB2):c.2996+9A>G
|
rs1168172644
|
0.00001
|
|
NM_024675.4(PALB2):c.3014T>C (p.Phe1005Ser)
|
rs879254268
|
0.00001
|
|
NM_024675.4(PALB2):c.3021G>A (p.Met1007Ile)
|
rs1443207976
|
0.00001
|
|
NM_024675.4(PALB2):c.3024C>T (p.Pro1008=)
|
rs180177130
|
0.00001
|
|
NM_024675.4(PALB2):c.3025C>T (p.Pro1009Ser)
|
rs764669864
|
0.00001
|
|
NM_024675.4(PALB2):c.3029A>G (p.Glu1010Gly)
|
rs1228569190
|
0.00001
|
|
NM_024675.4(PALB2):c.3038T>C (p.Ile1013Thr)
|
rs775666266
|
0.00001
|
|
NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile)
|
rs367840862
|
0.00001
|
|
NM_024675.4(PALB2):c.3059A>G (p.Gln1020Arg)
|
rs776221283
|
0.00001
|
|
NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg)
|
rs143808171
|
0.00001
|
|
NM_024675.4(PALB2):c.3067C>T (p.Gln1023Ter)
|
rs1555459386
|
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.3103A>G (p.Ile1035Val)
|
rs863224783
|
0.00001
|
|
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu)
|
rs756906403
|
0.00001
|
|
NM_024675.4(PALB2):c.3113+11C>T
|
rs1057522029
|
0.00001
|
|
NM_024675.4(PALB2):c.3113+16A>G
|
rs1966767265
|
0.00001
|
|
NM_024675.4(PALB2):c.3113+17G>T
|
rs1451806881
|
0.00001
|
|
NM_024675.4(PALB2):c.3113+5G>C
|
rs876659463
|
0.00001
|
|
NM_024675.4(PALB2):c.3114-130A>C
|
rs1304034435
|
0.00001
|
|
NM_024675.4(PALB2):c.3114-20A>G
|
rs770731003
|
0.00001
|
|
NM_024675.4(PALB2):c.3114-5C>T
|
rs753307725
|
0.00001
|
|
NM_024675.4(PALB2):c.3125C>G (p.Thr1042Ser)
|
rs587780215
|
0.00001
|
|
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)
|
rs377713277
|
0.00001
|
|
NM_024675.4(PALB2):c.312T>C (p.Pro104=)
|
rs749203259
|
0.00001
|
|
NM_024675.4(PALB2):c.3133C>T (p.Leu1045Phe)
|
rs1567209904
|
0.00001
|
|
NM_024675.4(PALB2):c.313G>C (p.Glu105Gln)
|
rs1307895700
|
0.00001
|
|
NM_024675.4(PALB2):c.3152T>A (p.Ile1051Asn)
|
rs760373091
|
0.00001
|
|
NM_024675.4(PALB2):c.3154G>A (p.Asp1052Asn)
|
rs878855116
|
0.00001
|
|
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)
|
rs515726108
|
0.00001
|
|
NM_024675.4(PALB2):c.3164A>G (p.Tyr1055Cys)
|
rs1297371446
|
0.00001
|
|
NM_024675.4(PALB2):c.3182A>G (p.His1061Arg)
|
rs1966634515
|
0.00001
|
|
NM_024675.4(PALB2):c.3194C>G (p.Ser1065Cys)
|
rs1347982621
|
0.00001
|
|
NM_024675.4(PALB2):c.319T>A (p.Phe107Ile)
|
rs752251774
|
0.00001
|
|
NM_024675.4(PALB2):c.3201+1G>T
|
rs587776423
|
0.00001
|
|
NM_024675.4(PALB2):c.3201+20G>T
|
rs774029323
|
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.3225T>A (p.Ser1075Arg)
|
rs202222149
|
0.00001
|
|
NM_024675.4(PALB2):c.322A>C (p.Asn108His)
|
rs1240552147
|
0.00001
|
|
NM_024675.4(PALB2):c.3231C>A (p.Pro1077=)
|
rs772714719
|
0.00001
|
|
NM_024675.4(PALB2):c.3232T>A (p.Cys1078Ser)
|
rs876659587
|
0.00001
|
|
NM_024675.4(PALB2):c.3236C>T (p.Ala1079Val)
|
rs769342316
|
0.00001
|
|
NM_024675.4(PALB2):c.3276C>T (p.Leu1092=)
|
rs779003246
|
0.00001
|
|
NM_024675.4(PALB2):c.3278T>C (p.Ile1093Thr)
|
rs45616636
|
0.00001
|
|
NM_024675.4(PALB2):c.3282G>A (p.Val1094=)
|
rs747861082
|
0.00001
|
|
NM_024675.4(PALB2):c.330A>G (p.Gly110=)
|
rs876660773
|
0.00001
|
|
NM_024675.4(PALB2):c.3310G>A (p.Gly1104Ser)
|
rs188254555
|
0.00001
|
|
NM_024675.4(PALB2):c.3317T>C (p.Met1106Thr)
|
rs769065406
|
0.00001
|
|
NM_024675.4(PALB2):c.3320T>C (p.Leu1107Pro)
|
rs149194681
|
0.00001
|
|
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala)
|
rs864622193
|
0.00001
|
|
NM_024675.4(PALB2):c.3350+11A>G
|
rs515726114
|
0.00001
|
|
NM_024675.4(PALB2):c.3350+16T>G
|
rs515726115
|
0.00001
|
|
NM_024675.4(PALB2):c.3350+4A>C
|
rs180177136
|
0.00001
|
|
NM_024675.4(PALB2):c.3350+5G>A
|
rs587782566
|
0.00001
|
|
NM_024675.4(PALB2):c.3351-10A>G
|
rs1057517611
|
0.00001
|
|
NM_024675.4(PALB2):c.3351-5A>G
|
rs749386551
|
0.00001
|
|
NM_024675.4(PALB2):c.3357G>A (p.Leu1119=)
|
rs1966406468
|
0.00001
|
|
NM_024675.4(PALB2):c.3362G>A (p.Gly1121Asp)
|
rs62625282
|
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.3373G>T (p.Asp1125Tyr)
|
rs146444298
|
0.00001
|
|
NM_024675.4(PALB2):c.3379T>C (p.Cys1127Arg)
|
rs767830005
|
0.00001
|
|
NM_024675.4(PALB2):c.3391A>G (p.Ile1131Val)
|
rs774517454
|
0.00001
|
|
NM_024675.4(PALB2):c.3394T>C (p.Leu1132=)
|
rs1282821765
|
0.00001
|
|
NM_024675.4(PALB2):c.3415A>G (p.Ile1139Val)
|
rs1249960937
|
0.00001
|
|
NM_024675.4(PALB2):c.3417T>G (p.Ile1139Met)
|
rs876659632
|
0.00001
|
|
NM_024675.4(PALB2):c.3419G>C (p.Trp1140Ser)
|
rs1060502809
|
0.00001
|
|
NM_024675.4(PALB2):c.3434G>A (p.Gly1145Asp)
|
rs1442377872
|
0.00001
|
|
NM_024675.4(PALB2):c.3449T>G (p.Leu1150Arg)
|
rs45566737
|
0.00001
|
|
NM_024675.4(PALB2):c.3451C>T (p.Leu1151Phe)
|
rs786203462
|
0.00001
|
|
NM_024675.4(PALB2):c.3453C>G (p.Leu1151=)
|
rs777315394
|
0.00001
|
|
NM_024675.4(PALB2):c.3475T>G (p.Trp1159Gly)
|
rs876660792
|
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.3484G>A (p.Val1162Met)
|
rs1060502752
|
0.00001
|
|
NM_024675.4(PALB2):c.3490T>C (p.Trp1164Arg)
|
rs751979432
|
0.00001
|
|
NM_024675.4(PALB2):c.3493T>C (p.Ser1165Pro)
|
rs763591645
|
0.00001
|
|
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)
|
rs773829275
|
0.00001
|
|
NM_024675.4(PALB2):c.3500C>G (p.Thr1167Arg)
|
rs1308784980
|
0.00001
|
|
NM_024675.4(PALB2):c.3510T>C (p.His1170=)
|
rs1966396385
|
0.00001
|
|
NM_024675.4(PALB2):c.3513G>C (p.Leu1171Phe)
|
rs1221176559
|
0.00001
|
|
NM_024675.4(PALB2):c.3518C>T (p.Ala1173Val)
|
rs146659762
|
0.00001
|
|
NM_024675.4(PALB2):c.351T>C (p.Pro117=)
|
rs763330757
|
0.00001
|
|
NM_024675.4(PALB2):c.3521G>T (p.Gly1174Val)
|
rs1286090287
|
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.3539T>C (p.Ile1180Thr)
|
rs180177139
|
0.00001
|
|
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)
|
rs370404126
|
0.00001
|
|
NM_024675.4(PALB2):c.3545T>C (p.Val1182Ala)
|
rs747149179
|
0.00001
|
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
|
NM_024675.4(PALB2):c.3558A>G (p.Ser1186=)
|
rs1164709092
|
0.00001
|
|
NM_024675.4(PALB2):c.364G>T (p.Asp122Tyr)
|
rs730881880
|
0.00001
|
|
NM_024675.4(PALB2):c.371C>T (p.Thr124Ile)
|
rs45457297
|
0.00001
|
|
NM_024675.4(PALB2):c.372C>T (p.Thr124=)
|
rs786201904
|
0.00001
|
|
NM_024675.4(PALB2):c.379C>T (p.His127Tyr)
|
rs1056494105
|
0.00001
|
|
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys)
|
rs373287455
|
0.00001
|
|
NM_024675.4(PALB2):c.380A>G (p.His127Arg)
|
rs863224789
|
0.00001
|
|
NM_024675.4(PALB2):c.395del (p.Val132fs)
|
rs180177085
|
0.00001
|
|
NM_024675.4(PALB2):c.39G>C (p.Glu13Asp)
|
rs876660538
|
0.00001
|
|
NM_024675.4(PALB2):c.405T>C (p.Pro135=)
|
rs786201586
|
0.00001
|
|
NM_024675.4(PALB2):c.406A>T (p.Ser136Cys)
|
rs144496685
|
0.00001
|
|
NM_024675.4(PALB2):c.409G>A (p.Gly137Ser)
|
rs1397816581
|
0.00001
|
|
NM_024675.4(PALB2):c.40A>G (p.Lys14Glu)
|
rs786202029
|
0.00001
|
|
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)
|
rs587782005
|
0.00001
|
|
NM_024675.4(PALB2):c.438A>C (p.Arg146Ser)
|
rs587781498
|
0.00001
|
|
NM_024675.4(PALB2):c.43G>A (p.Glu15Lys)
|
rs730881884
|
0.00001
|
|
NM_024675.4(PALB2):c.462A>G (p.Thr154=)
|
rs1057522196
|
0.00001
|
|
NM_024675.4(PALB2):c.466A>G (p.Ile156Val)
|
rs1597099200
|
0.00001
|
|
NM_024675.4(PALB2):c.470C>T (p.Ser157Leu)
|
rs749078410
|
0.00001
|
|
NM_024675.4(PALB2):c.473A>G (p.Gln158Arg)
|
rs1349641343
|
0.00001
|
|
NM_024675.4(PALB2):c.48+10G>C
|
rs1311681895
|
0.00001
|
|
NM_024675.4(PALB2):c.48+19G>A
|
rs1057523580
|
0.00001
|
|
NM_024675.4(PALB2):c.481G>C (p.Asp161His)
|
rs769841151
|
0.00001
|
|
NM_024675.4(PALB2):c.49-4C>T
|
rs762518243
|
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.505C>T (p.Leu169Phe)
|
rs180177086
|
0.00001
|
|
NM_024675.4(PALB2):c.507C>G (p.Leu169=)
|
rs1375166092
|
0.00001
|
|
NM_024675.4(PALB2):c.531G>A (p.Lys177=)
|
rs779739454
|
0.00001
|
|
NM_024675.4(PALB2):c.541G>C (p.Glu181Gln)
|
rs864622280
|
0.00001
|
|
NM_024675.4(PALB2):c.546C>T (p.Ile182=)
|
rs1597098917
|
0.00001
|
|
NM_024675.4(PALB2):c.554A>G (p.Lys185Arg)
|
rs864622667
|
0.00001
|
|
NM_024675.4(PALB2):c.563C>G (p.Ala188Gly)
|
rs587781975
|
0.00001
|
|
NM_024675.4(PALB2):c.566G>T (p.Arg189Ile)
|
rs764180110
|
0.00001
|
|
NM_024675.4(PALB2):c.584T>C (p.Ile195Thr)
|
rs587782260
|
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.590C>T (p.Thr197Ile)
|
rs367945485
|
0.00001
|
|
NM_024675.4(PALB2):c.615A>G (p.Glu205=)
|
rs748128739
|
0.00001
|
|
NM_024675.4(PALB2):c.616C>T (p.Leu206Phe)
|
rs776664411
|
0.00001
|
|
NM_024675.4(PALB2):c.620C>T (p.Pro207Leu)
|
rs515726125
|
0.00001
|
|
NM_024675.4(PALB2):c.62T>G (p.Leu21Ter)
|
rs769240800
|
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.661G>A (p.Val221Ile)
|
rs1060502773
|
0.00001
|
|
NM_024675.4(PALB2):c.682C>T (p.Gln228Ter)
|
rs1327399690
|
0.00001
|
|
NM_024675.4(PALB2):c.6C>T (p.Asp2=)
|
rs1302088447
|
0.00001
|
|
NM_024675.4(PALB2):c.704C>A (p.Thr235Lys)
|
rs1385914265
|
0.00001
|
|
NM_024675.4(PALB2):c.706T>G (p.Phe236Val)
|
rs1196649458
|
0.00001
|
|
NM_024675.4(PALB2):c.718C>A (p.Pro240Thr)
|
rs757567654
|
0.00001
|
|
NM_024675.4(PALB2):c.734C>T (p.Ala245Val)
|
rs571063157
|
0.00001
|
|
NM_024675.4(PALB2):c.735G>A (p.Ala245=)
|
rs371612049
|
0.00001
|
|
NM_024675.4(PALB2):c.739A>G (p.Thr247Ala)
|
rs786203040
|
0.00001
|
|
NM_024675.4(PALB2):c.749T>C (p.Leu250Ser)
|
rs774675771
|
0.00001
|
|
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter)
|
rs180177091
|
0.00001
|
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
|
NM_024675.4(PALB2):c.764A>G (p.Asp255Gly)
|
rs776753788
|
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.802A>G (p.Lys268Glu)
|
rs1347572821
|
0.00001
|
|
NM_024675.4(PALB2):c.813T>A (p.Ser271Arg)
|
rs786203246
|
0.00001
|
|
NM_024675.4(PALB2):c.814G>A (p.Glu272Lys)
|
rs515726127
|
0.00001
|
|
NM_024675.4(PALB2):c.817C>T (p.Leu273Phe)
|
rs537723251
|
0.00001
|
|
NM_024675.4(PALB2):c.824C>T (p.Thr275Ile)
|
rs786202499
|
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.833T>A (p.Leu278Gln)
|
rs200843485
|
0.00001
|
|
NM_024675.4(PALB2):c.841A>T (p.Ile281Phe)
|
rs751882053
|
0.00001
|
|
NM_024675.4(PALB2):c.843T>A (p.Ile281=)
|
rs786201408
|
0.00001
|
|
NM_024675.4(PALB2):c.844A>G (p.Arg282Gly)
|
rs45447991
|
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.858T>G (p.Pro286=)
|
rs1060504709
|
0.00001
|
|
NM_024675.4(PALB2):c.860T>C (p.Val287Ala)
|
rs1555461576
|
0.00001
|
|
NM_024675.4(PALB2):c.878G>A (p.Gly293Asp)
|
rs876660398
|
0.00001
|
|
NM_024675.4(PALB2):c.892G>A (p.Val298Ile)
|
rs1060502765
|
0.00001
|
|
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)
|
rs528541334
|
0.00001
|
|
NM_024675.4(PALB2):c.902A>G (p.Asp301Gly)
|
rs759014440
|
0.00001
|
|
NM_024675.4(PALB2):c.926T>A (p.Ile309Lys)
|
rs201588519
|
0.00001
|
|
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly)
|
rs45561331
|
0.00001
|
|
NM_024675.4(PALB2):c.932A>G (p.Lys311Arg)
|
rs755129205
|
0.00001
|
|
NM_024675.4(PALB2):c.935G>A (p.Ser312Asn)
|
rs1407319475
|
0.00001
|
|
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)
|
rs786203821
|
0.00001
|
|
NM_024675.4(PALB2):c.956C>A (p.Ser319Tyr)
|
rs200144401
|
0.00001
|
|
NM_024675.4(PALB2):c.968C>A (p.Ala323Glu)
|
rs730881882
|
0.00001
|
|
NM_024675.4(PALB2):c.977C>T (p.Ser326Leu)
|
rs1282291340
|
0.00001
|
|
NM_024675.4(PALB2):c.97G>A (p.Ala33Thr)
|
rs747302288
|
0.00001
|
|
NM_024675.4(PALB2):c.985C>G (p.Leu329Val)
|
rs863224792
|
0.00001
|
|
NM_024675.4(PALB2):c.993A>G (p.Glu331=)
|
rs760362870
|
0.00001
|
|
NM_032043.3(BRIP1):c.-225G>A
|
rs1603369188
|
0.00001
|
|
NM_032043.3(BRIP1):c.-56C>G
|
rs1054876315
|
0.00001
|
|
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)
|
rs755796609
|
0.00001
|
|
NM_032043.3(BRIP1):c.1023C>T (p.Val341=)
|
rs957014406
|
0.00001
|
|
NM_032043.3(BRIP1):c.103G>A (p.Gly35Arg)
|
rs373104267
|
0.00001
|
|
NM_032043.3(BRIP1):c.1054T>C (p.Tyr352His)
|
rs730881632
|
0.00001
|
|
NM_032043.3(BRIP1):c.1055A>G (p.Tyr352Cys)
|
rs762417690
|
0.00001
|
|
NM_032043.3(BRIP1):c.1057T>C (p.Tyr353His)
|
rs1567831780
|
0.00001
|
|
NM_032043.3(BRIP1):c.1059C>T (p.Tyr353=)
|
rs864622375
|
0.00001
|
|
NM_032043.3(BRIP1):c.1061C>T (p.Thr354Ile)
|
rs776939714
|
0.00001
|
|
NM_032043.3(BRIP1):c.1065C>G (p.Ala355=)
|
rs1222801209
|
0.00001
|
|
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)
|
rs730881633
|
0.00001
|
|
NM_032043.3(BRIP1):c.1071A>G (p.Glu357=)
|
rs761017296
|
0.00001
|
|
NM_032043.3(BRIP1):c.1074A>C (p.Leu358=)
|
rs771682192
|
0.00001
|
|
NM_032043.3(BRIP1):c.1077A>G (p.Ile359Met)
|
rs730881634
|
0.00001
|
|
NM_032043.3(BRIP1):c.10A>G (p.Met4Val)
|
rs45512093
|
0.00001
|
|
NM_032043.3(BRIP1):c.1105T>C (p.Tyr369His)
|
rs587781325
|
0.00001
|
|
NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser)
|
rs777511615
|
0.00001
|
|
NM_032043.3(BRIP1):c.1114C>T (p.Leu372Phe)
|
rs786202637
|
0.00001
|
|
NM_032043.3(BRIP1):c.1117C>T (p.Leu373=)
|
rs755992778
|
0.00001
|
|
NM_032043.3(BRIP1):c.1141-4A>G
|
rs1226658018
|
0.00001
|
|
NM_032043.3(BRIP1):c.1152T>C (p.Asn384=)
|
rs1055794932
|
0.00001
|
|
NM_032043.3(BRIP1):c.1184C>A (p.Ala395Asp)
|
rs778992385
|
0.00001
|
|
NM_032043.3(BRIP1):c.1187A>G (p.His396Arg)
|
rs996493095
|
0.00001
|
|
NM_032043.3(BRIP1):c.1188dup (p.Asn397Ter)
|
rs1603342313
|
0.00001
|
|
NM_032043.3(BRIP1):c.1192A>G (p.Ile398Val)
|
rs786203967
|
0.00001
|
|
NM_032043.3(BRIP1):c.1194C>T (p.Ile398=)
|
rs757427498
|
0.00001
|
|
NM_032043.3(BRIP1):c.1195G>A (p.Glu399Lys)
|
rs587782816
|
0.00001
|
|
NM_032043.3(BRIP1):c.1198G>T (p.Asp400Tyr)
|
rs764711572
|
0.00001
|
|
NM_032043.3(BRIP1):c.1202G>A (p.Cys401Tyr)
|
rs1340018456
|
0.00001
|
|
NM_032043.3(BRIP1):c.1208G>A (p.Arg403Gln)
|
rs786202780
|
0.00001
|
|
NM_032043.3(BRIP1):c.120A>G (p.Gln40=)
|
rs878855136
|
0.00001
|
|
NM_032043.3(BRIP1):c.1216G>T (p.Ala406Ser)
|
rs1060501747
|
0.00001
|
|
NM_032043.3(BRIP1):c.1217C>T (p.Ala406Val)
|
rs767872861
|
0.00001
|
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
|
NM_032043.3(BRIP1):c.1247G>A (p.Arg416Gln)
|
rs772570870
|
0.00001
|
|
NM_032043.3(BRIP1):c.1256G>A (p.Arg419Gln)
|
rs748105919
|
0.00001
|
|
NM_032043.3(BRIP1):c.1266A>G (p.Leu422=)
|
rs1484320639
|
0.00001
|
|
NM_032043.3(BRIP1):c.1268A>G (p.Asp423Gly)
|
rs746778889
|
0.00001
|
|
NM_032043.3(BRIP1):c.1283A>G (p.Asn428Ser)
|
rs779237423
|
0.00001
|
|
NM_032043.3(BRIP1):c.1286A>C (p.Asn429Thr)
|
rs587781463
|
0.00001
|
|
NM_032043.3(BRIP1):c.1297A>G (p.Lys433Glu)
|
rs2077947326
|
0.00001
|
|
NM_032043.3(BRIP1):c.1304A>G (p.His435Arg)
|
rs730881636
|
0.00001
|
|
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)
|
rs587780226
|
0.00001
|
|
NM_032043.3(BRIP1):c.1316G>A (p.Arg439Gln)
|
rs753214212
|
0.00001
|
|
NM_032043.3(BRIP1):c.1321G>A (p.Val441Met)
|
rs1060501782
|
0.00001
|
|
NM_032043.3(BRIP1):c.1322T>C (p.Val441Ala)
|
rs1458068665
|
0.00001
|
|
NM_032043.3(BRIP1):c.1332C>T (p.Ser444=)
|
rs200581792
|
0.00001
|
|
NM_032043.3(BRIP1):c.1340+17A>G
|
rs1450290454
|
0.00001
|
|
NM_032043.3(BRIP1):c.1341-12A>G
|
rs1441257544
|
0.00001
|
|
NM_032043.3(BRIP1):c.134A>G (p.Glu45Gly)
|
rs2078950725
|
0.00001
|
|
NM_032043.3(BRIP1):c.1357G>A (p.Ala453Thr)
|
rs587780227
|
0.00001
|
|
NM_032043.3(BRIP1):c.1361A>T (p.Glu454Val)
|
rs769918040
|
0.00001
|
|
NM_032043.3(BRIP1):c.1363T>A (p.Tyr455Asn)
|
rs587780826
|
0.00001
|
|
NM_032043.3(BRIP1):c.1369G>C (p.Val457Leu)
|
rs748221377
|
0.00001
|
|
NM_032043.3(BRIP1):c.1375A>G (p.Arg459Gly)
|
rs752052351
|
0.00001
|
|
NM_032043.3(BRIP1):c.143C>A (p.Thr48Lys)
|
rs755317452
|
0.00001
|
|
NM_032043.3(BRIP1):c.1441G>T (p.Gly481Cys)
|
rs587780229
|
0.00001
|
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
|
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=)
|
rs773489367
|
0.00001
|
|
NM_032043.3(BRIP1):c.1467T>G (p.Ile489Met)
|
rs587780230
|
0.00001
|
|
NM_032043.3(BRIP1):c.1473+19C>T
|
rs201603389
|
0.00001
|
|
NM_032043.3(BRIP1):c.1473+6A>G
|
rs587780827
|
0.00001
|
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
|
NM_032043.3(BRIP1):c.1476A>T (p.Gly492=)
|
rs1398626535
|
0.00001
|
|
NM_032043.3(BRIP1):c.1483T>C (p.Ser495Pro)
|
rs1555603617
|
0.00001
|
|
NM_032043.3(BRIP1):c.1532A>G (p.Glu511Gly)
|
rs1555603565
|
0.00001
|
|
NM_032043.3(BRIP1):c.1542A>G (p.Arg514=)
|
rs779454200
|
0.00001
|
|
NM_032043.3(BRIP1):c.1571A>G (p.Gln524Arg)
|
rs587781726
|
0.00001
|
|
NM_032043.3(BRIP1):c.1586G>A (p.Gly529Glu)
|
rs138784299
|
0.00001
|
|
NM_032043.3(BRIP1):c.1594A>G (p.Met532Val)
|
rs876658383
|
0.00001
|
|
NM_032043.3(BRIP1):c.1594dup (p.Met532fs)
|
rs1339743866
|
0.00001
|
|
NM_032043.3(BRIP1):c.1595T>C (p.Met532Thr)
|
rs1179705368
|
0.00001
|
|
NM_032043.3(BRIP1):c.1607A>G (p.Tyr536Cys)
|
rs1060501752
|
0.00001
|
|
NM_032043.3(BRIP1):c.1628+11A>G
|
rs1064793459
|
0.00001
|
|
NM_032043.3(BRIP1):c.1628+18G>C
|
rs1005163267
|
0.00001
|
|
NM_032043.3(BRIP1):c.1628+20A>G
|
rs200292462
|
0.00001
|
|
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu)
|
rs754414731
|
0.00001
|
|
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met)
|
rs587782254
|
0.00001
|
|
NM_032043.3(BRIP1):c.1651G>A (p.Ala551Thr)
|
rs766302517
|
0.00001
|
|
NM_032043.3(BRIP1):c.1670C>T (p.Ser557Phe)
|
rs1375911072
|
0.00001
|
|
NM_032043.3(BRIP1):c.1672T>C (p.Trp558Arg)
|
rs767648925
|
0.00001
|
|
NM_032043.3(BRIP1):c.1684A>G (p.Ile562Val)
|
rs45533636
|
0.00001
|
|
NM_032043.3(BRIP1):c.1696G>A (p.Asp566Asn)
|
rs1289102059
|
0.00001
|
|
NM_032043.3(BRIP1):c.1704T>G (p.Asn568Lys)
|
rs763458922
|
0.00001
|
|
NM_032043.3(BRIP1):c.170T>G (p.Leu57Arg)
|
rs1435822764
|
0.00001
|
|
NM_032043.3(BRIP1):c.1710G>A (p.Leu570=)
|
rs370087045
|
0.00001
|
|
NM_032043.3(BRIP1):c.1717C>G (p.Leu573Val)
|
rs786202587
|
0.00001
|
|
NM_032043.3(BRIP1):c.1730A>T (p.Lys577Met)
|
rs1411869768
|
0.00001
|
|
NM_032043.3(BRIP1):c.1731G>A (p.Lys577=)
|
rs587780829
|
0.00001
|
|
NM_032043.3(BRIP1):c.1742G>A (p.Arg581Gln)
|
rs587778133
|
0.00001
|
|
NM_032043.3(BRIP1):c.1748A>G (p.Lys583Arg)
|
rs876658547
|
0.00001
|
|
NM_032043.3(BRIP1):c.1752T>G (p.Thr584=)
|
rs778774207
|
0.00001
|
|
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu)
|
rs756946068
|
0.00001
|
|
NM_032043.3(BRIP1):c.1771T>A (p.Phe591Ile)
|
rs876661057
|
0.00001
|
|
NM_032043.3(BRIP1):c.1794+1G>A
|
rs766516963
|
0.00001
|
|
NM_032043.3(BRIP1):c.1794+1G>C
|
rs766516963
|
0.00001
|
|
NM_032043.3(BRIP1):c.1795-7C>G
|
rs760326491
|
0.00001
|
|
NM_032043.3(BRIP1):c.1795-9T>G
|
rs777006706
|
0.00001
|
|
NM_032043.3(BRIP1):c.1797C>G (p.Ala599=)
|
rs771672834
|
0.00001
|
|
NM_032043.3(BRIP1):c.1800T>G (p.Phe600Leu)
|
rs375625993
|
0.00001
|
|
NM_032043.3(BRIP1):c.1801T>G (p.Ser601Ala)
|
rs1317946589
|
0.00001
|
|
NM_032043.3(BRIP1):c.1804G>T (p.Asp602Tyr)
|
rs770750488
|
0.00001
|
|
NM_032043.3(BRIP1):c.1838C>G (p.Thr613Arg)
|
rs864622345
|
0.00001
|
|
NM_032043.3(BRIP1):c.1873T>C (p.Ser625Pro)
|
rs935011040
|
0.00001
|
|
NM_032043.3(BRIP1):c.1903C>A (p.Leu635Met)
|
rs754280136
|
0.00001
|
|
NM_032043.3(BRIP1):c.1935+14T>G
|
rs773754230
|
0.00001
|
|
NM_032043.3(BRIP1):c.1935+15T>C
|
rs796483567
|
0.00001
|
|
NM_032043.3(BRIP1):c.1935G>C (p.Gln645His)
|
rs1254051324
|
0.00001
|
|
NM_032043.3(BRIP1):c.1936-7A>T
|
rs1427111542
|
0.00001
|
|
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)
|
rs575595017
|
0.00001
|
|
NM_032043.3(BRIP1):c.1942G>A (p.Val648Ile)
|
rs780475484
|
0.00001
|
|
NM_032043.3(BRIP1):c.1952T>C (p.Ile651Thr)
|
rs757305097
|
0.00001
|
|
NM_032043.3(BRIP1):c.1969G>C (p.Gly657Arg)
|
rs1051619247
|
0.00001
|
|
NM_032043.3(BRIP1):c.1981T>C (p.Cys661Arg)
|
rs876660402
|
0.00001
|
|
NM_032043.3(BRIP1):c.1984G>A (p.Ala662Thr)
|
rs571340013
|
0.00001
|
|
NM_032043.3(BRIP1):c.1989C>A (p.Thr663=)
|
rs376628979
|
0.00001
|
|
NM_032043.3(BRIP1):c.1989C>T (p.Thr663=)
|
rs376628979
|
0.00001
|
|
NM_032043.3(BRIP1):c.19G>C (p.Glu7Gln)
|
rs1246321339
|
0.00001
|
|
NM_032043.3(BRIP1):c.1A>G (p.Met1Val)
|
rs764585550
|
0.00001
|
|
NM_032043.3(BRIP1):c.2031A>T (p.Gly677=)
|
rs1288620174
|
0.00001
|
|
NM_032043.3(BRIP1):c.2038T>C (p.Leu680=)
|
rs786203872
|
0.00001
|
|
NM_032043.3(BRIP1):c.2048T>G (p.Val683Gly)
|
rs1294492499
|
0.00001
|
|
NM_032043.3(BRIP1):c.205+16A>G
|
rs1057520253
|
0.00001
|
|
NM_032043.3(BRIP1):c.205+20C>G
|
rs1567876836
|
0.00001
|
|
NM_032043.3(BRIP1):c.205+3A>G
|
rs539329589
|
0.00001
|
|
NM_032043.3(BRIP1):c.2056A>G (p.Thr686Ala)
|
rs769820537
|
0.00001
|
|
NM_032043.3(BRIP1):c.205G>A (p.Gly69Arg)
|
rs372581879
|
0.00001
|
|
NM_032043.3(BRIP1):c.206-2A>G
|
rs786203700
|
0.00001
|
|
NM_032043.3(BRIP1):c.2069G>A (p.Gly690Glu)
|
rs878855144
|
0.00001
|
|
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu)
|
rs587782356
|
0.00001
|
|
NM_032043.3(BRIP1):c.2097+8A>C
|
rs730881642
|
0.00001
|
|
NM_032043.3(BRIP1):c.2098-3T>C
|
rs1057520463
|
0.00001
|
|
NM_032043.3(BRIP1):c.2107A>C (p.Lys703Gln)
|
rs762590242
|
0.00001
|
|
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)
|
rs764803896
|
0.00001
|
|
NM_032043.3(BRIP1):c.2121T>C (p.Arg707=)
|
rs1481107855
|
0.00001
|
|
NM_032043.3(BRIP1):c.2136T>C (p.Gly712=)
|
rs1426003140
|
0.00001
|
|
NM_032043.3(BRIP1):c.2155T>C (p.Leu719=)
|
rs771122056
|
0.00001
|
|
NM_032043.3(BRIP1):c.2167G>A (p.Val723Ile)
|
rs145616741
|
0.00001
|
|
NM_032043.3(BRIP1):c.2172T>A (p.Ile724=)
|
rs777860588
|
0.00001
|
|
NM_032043.3(BRIP1):c.2179C>G (p.Pro727Ala)
|
rs769797684
|
0.00001
|
|
NM_032043.3(BRIP1):c.2203T>C (p.Phe735Leu)
|
rs1353526212
|
0.00001
|
|
NM_032043.3(BRIP1):c.2247A>T (p.Lys749Asn)
|
rs587782556
|
0.00001
|
|
NM_032043.3(BRIP1):c.2257+17T>C
|
rs730881639
|
0.00001
|
|
NM_032043.3(BRIP1):c.2257+5C>T
|
rs1057523068
|
0.00001
|
|
NM_032043.3(BRIP1):c.2257+6_2257+7del
|
rs1255940179
|
0.00001
|
|
NM_032043.3(BRIP1):c.2258-18T>G
|
rs544273704
|
0.00001
|
|
NM_032043.3(BRIP1):c.2258-8T>C
|
rs2077009801
|
0.00001
|
|
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly)
|
rs745578572
|
0.00001
|
|
NM_032043.3(BRIP1):c.225C>T (p.Gly75=)
|
rs186802750
|
0.00001
|
|
NM_032043.3(BRIP1):c.226G>A (p.Val76Ile)
|
rs769573395
|
0.00001
|
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
0.00001
|
|
NM_032043.3(BRIP1):c.2281T>G (p.Cys761Gly)
|
rs1422958547
|
0.00001
|
|
NM_032043.3(BRIP1):c.2284C>T (p.Arg762Cys)
|
rs587778136
|
0.00001
|
|
NM_032043.3(BRIP1):c.2295G>A (p.Val765=)
|
rs752509701
|
0.00001
|
|
NM_032043.3(BRIP1):c.2301G>A (p.Glu767=)
|
rs369434185
|
0.00001
|
|
NM_032043.3(BRIP1):c.2304T>C (p.Gly768=)
|
rs1603303843
|
0.00001
|
|
NM_032043.3(BRIP1):c.2310T>C (p.Asp770=)
|
rs148752066
|
0.00001
|
|
NM_032043.3(BRIP1):c.2330G>A (p.Arg777His)
|
rs747568830
|
0.00001
|
|
NM_032043.3(BRIP1):c.2338A>C (p.Ile780Leu)
|
rs776131401
|
0.00001
|
|
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val)
|
rs142806416
|
0.00001
|
|
NM_032043.3(BRIP1):c.2345T>C (p.Ile782Thr)
|
rs778758437
|
0.00001
|
|
NM_032043.3(BRIP1):c.2370A>G (p.Lys790=)
|
rs372122365
|
0.00001
|
|
NM_032043.3(BRIP1):c.2371G>T (p.Asp791Tyr)
|
rs1289778155
|
0.00001
|
|
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)
|
rs587782574
|
0.00001
|
|
NM_032043.3(BRIP1):c.2379+1G>A
|
rs1555590286
|
0.00001
|
|
NM_032043.3(BRIP1):c.2380-3T>A
|
rs587782542
|
0.00001
|
|
NM_032043.3(BRIP1):c.2382T>G (p.Val794=)
|
rs560088455
|
0.00001
|
|
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)
|
rs730881622
|
0.00001
|
|
NM_032043.3(BRIP1):c.2393G>A (p.Arg798Gln)
|
rs375082407
|
0.00001
|
|
NM_032043.3(BRIP1):c.2402A>G (p.Asn801Ser)
|
rs1325317591
|
0.00001
|
|
NM_032043.3(BRIP1):c.2419T>C (p.Leu807=)
|
rs786201708
|
0.00001
|
|
NM_032043.3(BRIP1):c.2427T>C (p.Gly809=)
|
rs754927538
|
0.00001
|
|
NM_032043.3(BRIP1):c.2428C>G (p.Leu810Val)
|
rs587780238
|
0.00001
|
|
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)
|
rs45468199
|
0.00001
|
|
NM_032043.3(BRIP1):c.2464T>C (p.Tyr822His)
|
rs760887592
|
0.00001
|
|
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)
|
rs1483527885
|
0.00001
|
|
NM_032043.3(BRIP1):c.2477A>G (p.Asn826Ser)
|
rs760127237
|
0.00001
|
|
NM_032043.3(BRIP1):c.2478C>T (p.Asn826=)
|
rs774939280
|
0.00001
|
|
NM_032043.3(BRIP1):c.2492+5G>A
|
rs763222019
|
0.00001
|
|
NM_032043.3(BRIP1):c.2493-11A>G
|
rs890923836
|
0.00001
|
|
NM_032043.3(BRIP1):c.24T>A (p.Tyr8Ter)
|
rs752411477
|
0.00001
|
|
NM_032043.3(BRIP1):c.2505C>T (p.His835=)
|
rs775547651
|
0.00001
|
|
NM_032043.3(BRIP1):c.2514T>C (p.Asp838=)
|
rs1555574808
|
0.00001
|
|
NM_032043.3(BRIP1):c.2523T>C (p.Ala841=)
|
rs1603280558
|
0.00001
|
|
NM_032043.3(BRIP1):c.2525_2538del (p.Leu842fs)
|
rs2061477722
|
0.00001
|
|
NM_032043.3(BRIP1):c.2535G>A (p.Val845=)
|
rs1555574772
|
0.00001
|
|
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu)
|
rs587781830
|
0.00001
|
|
NM_032043.3(BRIP1):c.2568T>C (p.Tyr856=)
|
rs370175724
|
0.00001
|
|
NM_032043.3(BRIP1):c.2569A>G (p.Ile857Val)
|
rs28904918
|
0.00001
|
|
NM_032043.3(BRIP1):c.2571A>G (p.Ile857Met)
|
rs1427254734
|
0.00001
|
|
NM_032043.3(BRIP1):c.2575+4A>G
|
rs758858747
|
0.00001
|
|
NM_032043.3(BRIP1):c.2576-7T>C
|
rs759408257
|
0.00001
|
|
NM_032043.3(BRIP1):c.2579T>C (p.Leu860Pro)
|
rs587780242
|
0.00001
|
|
NM_032043.3(BRIP1):c.2582C>G (p.Ser861Cys)
|
rs774415723
|
0.00001
|
|
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln)
|
rs781609846
|
0.00001
|
|
NM_032043.3(BRIP1):c.2598G>A (p.Gln866=)
|
rs769021796
|
0.00001
|
|
NM_032043.3(BRIP1):c.2613T>C (p.His871=)
|
rs199721657
|
0.00001
|
|
NM_032043.3(BRIP1):c.2617A>G (p.Thr873Ala)
|
rs758444508
|
0.00001
|
|
NM_032043.3(BRIP1):c.2623G>C (p.Glu875Gln)
|
rs876659099
|
0.00001
|
|
NM_032043.3(BRIP1):c.2628T>C (p.Ser876=)
|
rs1032574757
|
0.00001
|
|
NM_032043.3(BRIP1):c.2646T>C (p.Ala882=)
|
rs1342595412
|
0.00001
|
|
NM_032043.3(BRIP1):c.2648A>C (p.Glu883Ala)
|
rs1453990721
|
0.00001
|
|
NM_032043.3(BRIP1):c.2671G>C (p.Val891Leu)
|
rs754224663
|
0.00001
|
|
NM_032043.3(BRIP1):c.2686A>G (p.Ile896Val)
|
rs764406913
|
0.00001
|
|
NM_032043.3(BRIP1):c.2689A>G (p.Lys897Glu)
|
rs587781644
|
0.00001
|
|
NM_032043.3(BRIP1):c.269G>A (p.Cys90Tyr)
|
rs1221074399
|
0.00001
|
|
NM_032043.3(BRIP1):c.2705T>C (p.Ile902Thr)
|
rs1060501781
|
0.00001
|
|
NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met)
|
rs587780244
|
0.00001
|
|
NM_032043.3(BRIP1):c.2723C>T (p.Thr908Ile)
|
rs786201919
|
0.00001
|
|
NM_032043.3(BRIP1):c.2728G>A (p.Glu910Lys)
|
rs1007808618
|
0.00001
|
|
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs)
|
rs752780954
|
0.00001
|
|
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)
|
rs587782410
|
0.00001
|
|
NM_032043.3(BRIP1):c.2775A>C (p.Ala925=)
|
rs1340804078
|
0.00001
|
|
NM_032043.3(BRIP1):c.2776G>A (p.Ala926Thr)
|
rs1003917080
|
0.00001
|
|
NM_032043.3(BRIP1):c.2777C>T (p.Ala926Val)
|
rs1483709056
|
0.00001
|
|
NM_032043.3(BRIP1):c.2788T>C (p.Ser930Pro)
|
rs1384396768
|
0.00001
|
|
NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val)
|
rs863224801
|
0.00001
|
|
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser)
|
rs778916092
|
0.00001
|
|
NM_032043.3(BRIP1):c.2802T>G (p.Phe934Leu)
|
rs1259968679
|
0.00001
|
|
NM_032043.3(BRIP1):c.2811T>C (p.Asp937=)
|
rs374335608
|
0.00001
|
|
NM_032043.3(BRIP1):c.2816C>G (p.Ala939Gly)
|
rs756490117
|
0.00001
|
|
NM_032043.3(BRIP1):c.281A>G (p.Asp94Gly)
|
rs529201896
|
0.00001
|
|
NM_032043.3(BRIP1):c.2820G>A (p.Lys940=)
|
rs786201396
|
0.00001
|
|
NM_032043.3(BRIP1):c.2833G>C (p.Glu945Gln)
|
rs863224802
|
0.00001
|
|
NM_032043.3(BRIP1):c.2841G>A (p.Gln947=)
|
rs786201414
|
0.00001
|
|
NM_032043.3(BRIP1):c.2867C>T (p.Ser956Leu)
|
rs761639530
|
0.00001
|
|
NM_032043.3(BRIP1):c.2874A>T (p.Leu958=)
|
rs886041147
|
0.00001
|
|
NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr)
|
rs786201632
|
0.00001
|
|
NM_032043.3(BRIP1):c.2900A>G (p.Glu967Gly)
|
rs1176224216
|
0.00001
|
|
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu)
|
rs587782679
|
0.00001
|
|
NM_032043.3(BRIP1):c.2905+3A>G
|
rs1555573247
|
0.00001
|
|
NM_032043.3(BRIP1):c.2906-15T>A
|
rs771068891
|
0.00001
|
|
NM_032043.3(BRIP1):c.2906-1G>A
|
rs773639563
|
0.00001
|
|
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile)
|
rs786203224
|
0.00001
|
|
NM_032043.3(BRIP1):c.2930C>T (p.Ala977Val)
|
rs770352467
|
0.00001
|
|
NM_032043.3(BRIP1):c.2935A>G (p.Lys979Glu)
|
rs730881627
|
0.00001
|
|
NM_032043.3(BRIP1):c.2936A>G (p.Lys979Arg)
|
rs2061326120
|
0.00001
|
|
NM_032043.3(BRIP1):c.293A>G (p.Asn98Ser)
|
rs781121675
|
0.00001
|
|
NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn)
|
rs587781417
|
0.00001
|
|
NM_032043.3(BRIP1):c.2957C>G (p.Ser986Cys)
|
rs182087528
|
0.00001
|
|
NM_032043.3(BRIP1):c.2979C>G (p.Phe993Leu)
|
rs1060501756
|
0.00001
|
|
NM_032043.3(BRIP1):c.2995A>G (p.Arg999Gly)
|
rs2061323811
|
0.00001
|
|
NM_032043.3(BRIP1):c.29T>C (p.Ile10Thr)
|
rs786203418
|
0.00001
|
|
NM_032043.3(BRIP1):c.3037A>G (p.Thr1013Ala)
|
rs1278002478
|
0.00001
|
|
NM_032043.3(BRIP1):c.3038C>T (p.Thr1013Ile)
|
rs1372474933
|
0.00001
|
|
NM_032043.3(BRIP1):c.3043A>G (p.Lys1015Glu)
|
rs769692303
|
0.00001
|
|
NM_032043.3(BRIP1):c.3045A>G (p.Lys1015=)
|
rs1555572892
|
0.00001
|
|
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)
|
rs747907706
|
0.00001
|
|
NM_032043.3(BRIP1):c.3058A>G (p.Thr1020Ala)
|
rs1064793073
|
0.00001
|
|
NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg)
|
rs147119272
|
0.00001
|
|
NM_032043.3(BRIP1):c.3071G>T (p.Gly1024Val)
|
rs587781744
|
0.00001
|
|
NM_032043.3(BRIP1):c.3075A>T (p.Ser1025=)
|
rs1060504319
|
0.00001
|
|
NM_032043.3(BRIP1):c.3083A>T (p.Asn1028Ile)
|
rs1060501762
|
0.00001
|
|
NM_032043.3(BRIP1):c.3093T>C (p.Ser1031=)
|
rs937490699
|
0.00001
|
|
NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg)
|
rs763162379
|
0.00001
|
|
NM_032043.3(BRIP1):c.3101C>T (p.Pro1034Leu)
|
rs1199923024
|
0.00001
|
|
NM_032043.3(BRIP1):c.3122T>C (p.Met1041Thr)
|
rs761225576
|
0.00001
|
|
NM_032043.3(BRIP1):c.3139T>C (p.Leu1047=)
|
rs1060504333
|
0.00001
|
|
NM_032043.3(BRIP1):c.3140T>C (p.Leu1047Ser)
|
rs786203344
|
0.00001
|
|
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn)
|
rs373040333
|
0.00001
|
|
NM_032043.3(BRIP1):c.3154A>G (p.Lys1052Glu)
|
rs1285783476
|
0.00001
|
|
NM_032043.3(BRIP1):c.315A>G (p.Ser105=)
|
rs1555617827
|
0.00001
|
|
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile)
|
rs149016505
|
0.00001
|
|
NM_032043.3(BRIP1):c.3187T>C (p.Ser1063Pro)
|
rs2061317060
|
0.00001
|
|
NM_032043.3(BRIP1):c.3197C>T (p.Ser1066Leu)
|
rs1567728809
|
0.00001
|
|
NM_032043.3(BRIP1):c.3199T>A (p.Cys1067Ser)
|
rs878855153
|
0.00001
|
|
NM_032043.3(BRIP1):c.320A>G (p.His107Arg)
|
rs876659809
|
0.00001
|
|
NM_032043.3(BRIP1):c.3215C>T (p.Thr1072Ile)
|
rs786204068
|
0.00001
|
|
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter)
|
rs1420431000
|
0.00001
|
|
NM_032043.3(BRIP1):c.3234G>A (p.Lys1078=)
|
rs570238270
|
0.00001
|
|
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr)
|
rs150813402
|
0.00001
|
|
NM_032043.3(BRIP1):c.3238G>A (p.Asp1080Asn)
|
rs786204230
|
0.00001
|
|
NM_032043.3(BRIP1):c.3243C>T (p.Ala1081=)
|
rs754003636
|
0.00001
|
|
NM_032043.3(BRIP1):c.3252T>C (p.Thr1084=)
|
rs1555572745
|
0.00001
|
|
NM_032043.3(BRIP1):c.3260A>G (p.Asn1087Ser)
|
rs786202024
|
0.00001
|
|
NM_032043.3(BRIP1):c.3262C>T (p.His1088Tyr)
|
rs878855154
|
0.00001
|
|
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser)
|
rs587782734
|
0.00001
|
|
NM_032043.3(BRIP1):c.3272A>G (p.His1091Arg)
|
rs776129117
|
0.00001
|
|
NM_032043.3(BRIP1):c.3273T>G (p.His1091Gln)
|
rs1281827397
|
0.00001
|
|
NM_032043.3(BRIP1):c.3274C>T (p.Pro1092Ser)
|
rs768065626
|
0.00001
|
|
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)
|
rs587780830
|
0.00001
|
|
NM_032043.3(BRIP1):c.3276G>A (p.Pro1092=)
|
rs375911315
|
0.00001
|
|
NM_032043.3(BRIP1):c.328_333dup (p.Tyr110_Pro111dup)
|
rs1423363607
|
0.00001
|
|
NM_032043.3(BRIP1):c.3290A>C (p.Glu1097Ala)
|
rs876658746
|
0.00001
|
|
NM_032043.3(BRIP1):c.3306C>T (p.Asp1102=)
|
rs1220971956
|
0.00001
|
|
NM_032043.3(BRIP1):c.3308T>A (p.Ile1103Asn)
|
rs781102464
|
0.00001
|
|
NM_032043.3(BRIP1):c.3326G>A (p.Ser1109Asn)
|
rs2061311430
|
0.00001
|
|
NM_032043.3(BRIP1):c.3354T>C (p.Asn1118=)
|
rs757427210
|
0.00001
|
|
NM_032043.3(BRIP1):c.3381T>C (p.Asp1127=)
|
rs1403990854
|
0.00001
|
|
NM_032043.3(BRIP1):c.3388A>G (p.Ile1130Val)
|
rs786202549
|
0.00001
|
|
NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile)
|
rs778480809
|
0.00001
|
|
NM_032043.3(BRIP1):c.3441T>G (p.Asn1147Lys)
|
rs1603275034
|
0.00001
|
|
NM_032043.3(BRIP1):c.3448G>C (p.Ala1150Pro)
|
rs757363615
|
0.00001
|
|
NM_032043.3(BRIP1):c.3460A>G (p.Arg1154Gly)
|
rs769359514
|
0.00001
|
|
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)
|
rs45603843
|
0.00001
|
|
NM_032043.3(BRIP1):c.3468T>C (p.Asn1156=)
|
rs747624574
|
0.00001
|
|
NM_032043.3(BRIP1):c.3492C>A (p.Cys1164Ter)
|
rs2061304701
|
0.00001
|
|
NM_032043.3(BRIP1):c.3493A>C (p.Ile1165Leu)
|
rs771889454
|
0.00001
|
|
NM_032043.3(BRIP1):c.3499G>A (p.Ala1167Thr)
|
rs1555572570
|
0.00001
|
|
NM_032043.3(BRIP1):c.3505G>T (p.Asp1169Tyr)
|
rs587782029
|
0.00001
|
|
NM_032043.3(BRIP1):c.3507C>A (p.Asp1169Glu)
|
rs375741316
|
0.00001
|
|
NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs)
|
rs777367075
|
0.00001
|
|
NM_032043.3(BRIP1):c.3529A>C (p.Lys1177Gln)
|
rs756313788
|
0.00001
|
|
NM_032043.3(BRIP1):c.3533A>T (p.Glu1178Val)
|
rs752850661
|
0.00001
|
|
NM_032043.3(BRIP1):c.3556A>G (p.Lys1186Glu)
|
rs766709841
|
0.00001
|
|
NM_032043.3(BRIP1):c.3578C>T (p.Thr1193Ile)
|
rs1368343911
|
0.00001
|
|
NM_032043.3(BRIP1):c.357T>C (p.Asn119=)
|
rs786202477
|
0.00001
|
|
NM_032043.3(BRIP1):c.3605A>G (p.Glu1202Gly)
|
rs776010326
|
0.00001
|
|
NM_032043.3(BRIP1):c.361A>G (p.Thr121Ala)
|
rs1567874478
|
0.00001
|
|
NM_032043.3(BRIP1):c.3620A>T (p.Asp1207Val)
|
rs139539831
|
0.00001
|
|
NM_032043.3(BRIP1):c.3636T>C (p.Asn1212=)
|
rs374392860
|
0.00001
|
|
NM_032043.3(BRIP1):c.3681T>C (p.His1227=)
|
rs370581038
|
0.00001
|
|
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met)
|
rs1046992728
|
0.00001
|
|
NM_032043.3(BRIP1):c.3699C>A (p.Asn1233Lys)
|
rs1060501734
|
0.00001
|
|
NM_032043.3(BRIP1):c.3717C>T (p.Ser1239=)
|
rs758809865
|
0.00001
|
|
NM_032043.3(BRIP1):c.3727G>T (p.Gly1243Cys)
|
rs587780250
|
0.00001
|
|
NM_032043.3(BRIP1):c.3739G>A (p.Gly1247Ser)
|
rs1196057129
|
0.00001
|
|
NM_032043.3(BRIP1):c.3743T>G (p.Phe1248Cys)
|
rs763579793
|
0.00001
|
|
NM_032043.3(BRIP1):c.379G>A (p.Asp127Asn)
|
rs1311206718
|
0.00001
|
|
NM_032043.3(BRIP1):c.380-10C>T
|
rs1187614578
|
0.00001
|
|
NM_032043.3(BRIP1):c.380-11A>G
|
rs1407822955
|
0.00001
|
|
NM_032043.3(BRIP1):c.380-20T>C
|
rs748849028
|
0.00001
|
|
NM_032043.3(BRIP1):c.380-7A>G
|
rs748143260
|
0.00001
|
|
NM_032043.3(BRIP1):c.380-9T>C
|
rs876661141
|
0.00001
|
|
NM_032043.3(BRIP1):c.412T>C (p.Leu138=)
|
rs786201292
|
0.00001
|
|
NM_032043.3(BRIP1):c.426A>G (p.Lys142=)
|
rs768008017
|
0.00001
|
|
NM_032043.3(BRIP1):c.448G>A (p.Glu150Lys)
|
rs762701532
|
0.00001
|
|
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)
|
rs747604569
|
0.00001
|
|
NM_032043.3(BRIP1):c.507+19C>T
|
rs1057520658
|
0.00001
|
|
NM_032043.3(BRIP1):c.509T>G (p.Ile170Ser)
|
rs1265322103
|
0.00001
|
|
NM_032043.3(BRIP1):c.51T>C (p.Phe17=)
|
rs762827371
|
0.00001
|
|
NM_032043.3(BRIP1):c.537A>G (p.Glu179=)
|
rs775509896
|
0.00001
|
|
NM_032043.3(BRIP1):c.53C>T (p.Pro18Leu)
|
rs1415589484
|
0.00001
|
|
NM_032043.3(BRIP1):c.569G>A (p.Gly190Glu)
|
rs756269682
|
0.00001
|
|
NM_032043.3(BRIP1):c.56A>G (p.Tyr19Cys)
|
rs876660880
|
0.00001
|
|
NM_032043.3(BRIP1):c.570A>G (p.Gly190=)
|
rs1368897810
|
0.00001
|
|
NM_032043.3(BRIP1):c.612C>G (p.Ser204=)
|
rs587780832
|
0.00001
|
|
NM_032043.3(BRIP1):c.627+16A>G
|
rs1428730008
|
0.00001
|
|
NM_032043.3(BRIP1):c.627+5G>A
|
rs745727200
|
0.00001
|
|
NM_032043.3(BRIP1):c.628-10T>A
|
rs375646029
|
0.00001
|
|
NM_032043.3(BRIP1):c.628-11C>G
|
rs762672738
|
0.00001
|
|
NM_032043.3(BRIP1):c.628-20G>A
|
rs533827333
|
0.00001
|
|
NM_032043.3(BRIP1):c.630C>G (p.Pro210=)
|
rs864622510
|
0.00001
|
|
NM_032043.3(BRIP1):c.641G>C (p.Cys214Ser)
|
rs779409059
|
0.00001
|
|
NM_032043.3(BRIP1):c.655T>C (p.Cys219Arg)
|
rs730881630
|
0.00001
|
|
NM_032043.3(BRIP1):c.668A>G (p.Gln223Arg)
|
rs786203708
|
0.00001
|
|
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu)
|
rs45459799
|
0.00001
|
|
NM_032043.3(BRIP1):c.684G>A (p.Glu228=)
|
rs876659909
|
0.00001
|
|
NM_032043.3(BRIP1):c.68C>T (p.Pro23Leu)
|
rs1292425366
|
0.00001
|
|
NM_032043.3(BRIP1):c.705G>A (p.Lys235=)
|
rs1332585999
|
0.00001
|
|
NM_032043.3(BRIP1):c.712A>C (p.Thr238Pro)
|
rs1490001091
|
0.00001
|
|
NM_032043.3(BRIP1):c.714A>G (p.Thr238=)
|
rs548018916
|
0.00001
|
|
NM_032043.3(BRIP1):c.721T>C (p.Ser241Pro)
|
rs771542690
|
0.00001
|
|
NM_032043.3(BRIP1):c.732C>A (p.Pro244=)
|
rs786202300
|
0.00001
|
|
NM_032043.3(BRIP1):c.750A>G (p.Thr250=)
|
rs1057522393
|
0.00001
|
|
NM_032043.3(BRIP1):c.752G>A (p.Arg251His)
|
rs780834054
|
0.00001
|
|
NM_032043.3(BRIP1):c.753C>T (p.Arg251=)
|
rs876659416
|
0.00001
|
|
NM_032043.3(BRIP1):c.773A>G (p.Gln258Arg)
|
rs1567838078
|
0.00001
|
|
NM_032043.3(BRIP1):c.774G>C (p.Gln258His)
|
rs1198536492
|
0.00001
|
|
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe)
|
rs1060501776
|
0.00001
|
|
NM_032043.3(BRIP1):c.795G>A (p.Arg265=)
|
rs61754143
|
0.00001
|
|
NM_032043.3(BRIP1):c.799G>A (p.Ala267Thr)
|
rs865910081
|
0.00001
|
|
NM_032043.3(BRIP1):c.808G>T (p.Gly270Trp)
|
rs1401241698
|
0.00001
|
|
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val)
|
rs587781425
|
0.00001
|
|
NM_032043.3(BRIP1):c.845C>G (p.Thr282Ser)
|
rs45624635
|
0.00001
|
|
NM_032043.3(BRIP1):c.867C>T (p.Val289=)
|
rs147739458
|
0.00001
|
|
NM_032043.3(BRIP1):c.869G>A (p.Gly290Asp)
|
rs148556781
|
0.00001
|
|
NM_032043.3(BRIP1):c.878A>G (p.Asn293Ser)
|
rs746599076
|
0.00001
|
|
NM_032043.3(BRIP1):c.919-10T>G
|
rs748497834
|
0.00001
|
|
NM_032043.3(BRIP1):c.919-17T>C
|
rs770416347
|
0.00001
|
|
NM_032043.3(BRIP1):c.919-8G>T
|
rs777079928
|
0.00001
|
|
NM_032043.3(BRIP1):c.93+13C>T
|
rs2078970776
|
0.00001
|
|
NM_032043.3(BRIP1):c.932A>G (p.Tyr311Cys)
|
rs587782731
|
0.00001
|
|
NM_032043.3(BRIP1):c.963T>A (p.Asp321Glu)
|
rs1555607779
|
0.00001
|
|
NM_032043.3(BRIP1):c.972A>T (p.Thr324=)
|
rs779627397
|
0.00001
|
|
NM_032043.3(BRIP1):c.975A>G (p.Leu325=)
|
rs771630777
|
0.00001
|
|
NM_032043.3(BRIP1):c.97C>T (p.Leu33Phe)
|
rs772319724
|
0.00001
|
|
NM_032043.3(BRIP1):c.984C>T (p.Phe328=)
|
rs745379285
|
0.00001
|
|
NM_032043.3(BRIP1):c.991A>T (p.Met331Leu)
|
rs1380876424
|
0.00001
|
|
NM_032444.4(SLX4):c.5413T>C (p.Cys1805Arg)
|
rs746191123
|
0.00001
|
|
NM_033360.4(KRAS):c.112-5C>T
|
rs376520586
|
0.00001
|
|
NM_058216.3(RAD51C):c.1008A>G (p.Thr336=)
|
rs1057521598
|
0.00001
|
|
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile)
|
rs112832782
|
0.00001
|
|
NM_058216.3(RAD51C):c.641G>A (p.Arg214His)
|
rs760911964
|
0.00001
|
|
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)
|
rs770637624
|
0.00001
|
|
NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys)
|
rs587782474
|
0.00001
|
|
GRCh37/hg19 10p11.22-11.21(chr10:32323692-37520394)x3
|
|
|
|
GRCh37/hg19 10p11.23(chr10:30728036-30900919)x3
|
|
|
|
GRCh37/hg19 10p12.1(chr10:27326892-27356151)x3
|
|
|
|
GRCh37/hg19 10p12.31-12.2(chr10:22193496-22634700)x3
|
|
|
|
GRCh37/hg19 10p12.33-12.31(chr10:18439858-20357134)x3
|
|
|
|
GRCh37/hg19 10q23.33(chr10:94368870-94715405)x3
|
|
|
|
GRCh37/hg19 11p14.3(chr11:22646794-22851268)x3
|
|
|
|
GRCh37/hg19 11p15.4(chr11:9042668-9165735)x3
|
|
|
|
GRCh37/hg19 11p15.5(chr11:850336-1491561)x1
|
|
|
|
GRCh37/hg19 11q13.1(chr11:63995089-64012419)x3
|
|
|
|
GRCh37/hg19 11q21(chr11:94696615-95528715)x3
|
|
|
|
GRCh37/hg19 11q22.3(chr11:108235811-108239828)x1
|
|
|
|
GRCh37/hg19 11q23.1(chr11:111735939-111784393)x3
|
|
|
|
GRCh37/hg19 11q23.1(chr11:111789713-111857622)x4
|
|
|
|
GRCh37/hg19 11q23.3(chr11:120169037-120308055)x3
|
|
|
|
GRCh37/hg19 11q24.2(chr11:124824717-124951727)x3
|
|
|
|
GRCh37/hg19 12p13.2-13.1(chr12:12419642-13256423)x3
|
|
|
|
GRCh37/hg19 12p13.32(chr12:4627993-4665594)x3
|
|
|
|
GRCh37/hg19 12q12-13.11(chr12:46325342-46765019)x3
|
|
|
|
GRCh37/hg19 12q13.13(chr12:53421635-53645669)x3
|
|
|
|
GRCh37/hg19 12q21.2(chr12:76763038-76780400)x4
|
|
|
|
GRCh37/hg19 12q21.31(chr12:80927874-81503412)x3
|
|
|
|
GRCh37/hg19 12q23.1(chr12:96422898-98921728)x3
|
|
|
|
GRCh37/hg19 12q24.21(chr12:115109877-115120812)x4
|
|
|
|
GRCh37/hg19 12q24.21(chr12:116399137-116714901)x3
|
|
|
|
GRCh37/hg19 14q11.2(chr14:20922785-20937690)x3
|
|
|
|
GRCh37/hg19 14q13.3-21.1(chr14:37145530-38064142)x4
|
|
|
|
GRCh37/hg19 14q32.33(chr14:105936477-105995652)x3
|
|
|
|
GRCh37/hg19 15q14-15.1(chr15:39874092-40492503)x3
|
|
|
|
GRCh37/hg19 15q15.3-21.1(chr15:44791968-44852484)x3
|
|
|
|
GRCh37/hg19 15q23(chr15:69079813-72040847)x3
|
|
|
|
GRCh37/hg19 15q26.1(chr15:90770832-90777093)x3
|
|
|
|
GRCh37/hg19 15q26.1(chr15:90931601-90976990)x3
|
|
|
|
GRCh37/hg19 15q26.1(chr15:91475054-91478581)x3
|
|
|
|
GRCh37/hg19 15q26.1(chr15:93198718-93536159)x3
|
|
|
|
GRCh37/hg19 15q26.2-26.3(chr15:96869560-99486217)x3
|
|
|
|
GRCh37/hg19 16p11.2(chr16:29814850-29830976)x4
|
|
|
|
GRCh37/hg19 16p11.2(chr16:29841933-30381027)x3
|
|
|
|
GRCh37/hg19 16p11.2(chr16:30386180-30390806)x5
|
|
|
|
GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3
|
|
|
|
GRCh37/hg19 16p11.2(chr16:31123271-31153163)x4
|
|
|
|
GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3
|
|
|
|
GRCh37/hg19 16p12.3(chr16:19083339-19586433)x4
|
|
|
|
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3
|
|
|
|
GRCh37/hg19 16p13.3(chr16:324072-705832)x3
|
|
|
|
GRCh37/hg19 16p13.3(chr16:706802-772110)x4
|
|
|
|
GRCh37/hg19 16p13.3(chr16:772433-857560)x3
|
|
|
|
GRCh37/hg19 16p13.3(chr16:97494-1257060)x3
|
|
|
|
GRCh37/hg19 16p13.3(chr16:97494-323799)x3
|
|
|
|
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3
|
|
|
|
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3
|
|
|
|
GRCh37/hg19 16q11.2-12.1(chr16:46615804-47345238)x1
|
|
|
|
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1
|
|
|
|
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1
|
|
|
|
GRCh37/hg19 16q22.2(chr16:71103288-72092204)x1
|
|
|
|
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1
|
|
|
|
GRCh37/hg19 17p11.2(chr17:16052798-16062131)x4
|
|
|
|
GRCh37/hg19 17p11.2(chr17:17718204-17726877)x3
|
|
|
|
GRCh37/hg19 17p12(chr17:11887472-12044521)x3
|
|
|
|
GRCh37/hg19 17p13.1(chr17:7120452-7165252)x3
|
|
|
|
GRCh37/hg19 17p13.1(chr17:7121580-7186623)x3
|
|
|
|
GRCh37/hg19 17p13.1(chr17:7736464-7798352)x3
|
|
|
|
GRCh37/hg19 17p13.1(chr17:8017865-8135384)x3
|
|
|
|
GRCh37/hg19 17p13.1(chr17:8020196-8157327)x3
|
|
|
|
GRCh37/hg19 18p11.21-q11.1(chr18:14748529-18690826)x3
|
|
|
|
GRCh37/hg19 18q12.2(chr18:33611007-33722860)x4
|
|
|
|
GRCh37/hg19 19p13.2(chr19:7682488-7698319)x3
|
|
|
|
GRCh37/hg19 19p13.2(chr19:8661944-10104083)x1
|
|
|
|
GRCh37/hg19 19p13.3(chr19:1236038-1272435)x3
|
|
|
|
GRCh37/hg19 19p13.3(chr19:1997403-2076912)x3
|
|
|
|
GRCh37/hg19 19p13.3(chr19:5679382-5694843)x3
|
|
|
|
GRCh37/hg19 19q13.12(chr19:35516999-35990896)x3
|
|
|
|
GRCh37/hg19 19q13.12(chr19:36227660-36250792)x3
|
|
|
|
GRCh37/hg19 19q13.12(chr19:36227660-36268769)x3
|
|
|
|
GRCh37/hg19 19q13.12-13.2(chr19:36685995-38708166)x1
|
|
|
|
GRCh37/hg19 19q13.2(chr19:39879621-39944079)x3
|
|
|
|
GRCh37/hg19 19q13.31(chr19:44466919-45029206)x1
|
|
|
|
GRCh37/hg19 19q13.42(chr19:54647215-54705417)x3
|
|
|
|
GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1
|
|
|
|
GRCh37/hg19 19q13.42-13.43(chr19:56200298-57654005)x1
|
|
|
|
GRCh37/hg19 1p13.2(chr1:113134186-113265713)x3
|
|
|
|
GRCh37/hg19 1p13.3(chr1:108115974-108313305)x3
|
|
|
|
GRCh37/hg19 1p31.1(chr1:84610138-84650825)x6
|
|
|
|
GRCh37/hg19 1p31.1-22.3(chr1:84662362-85035719)x3
|
|
|
|
GRCh37/hg19 1p31.3(chr1:61543299-61548462)x7
|
|
|
|
GRCh37/hg19 1p31.3(chr1:67327908-67519596)x3
|
|
|
|
GRCh37/hg19 1p36.13(chr1:16782351-17359598)x1
|
|
|
|
GRCh37/hg19 1p36.22(chr1:11850846-11867218)x3
|
|
|
|
GRCh37/hg19 1q21.1(chr1:145438928-145527669)x3
|
|
|
|
GRCh37/hg19 1q21.2(chr1:149783688-150049029)x3
|
|
|
|
GRCh37/hg19 1q21.3(chr1:150531540-150679158)x3
|
|
|
|
GRCh37/hg19 1q21.3(chr1:153412418-153604246)x3
|
|
|
|
GRCh37/hg19 1q21.3(chr1:153742283-153752391)x3
|
|
|
|
GRCh37/hg19 1q23.2(chr1:160111098-160183245)x3
|
|
|
|
GRCh37/hg19 1q41(chr1:215747156-215751043)x5
|
|
|
|
GRCh37/hg19 20p11.21(chr20:25284225-25371245)x3
|
|
|
|
GRCh37/hg19 20p11.23(chr20:19662569-20003113)x3
|
|
|
|
GRCh37/hg19 20p12.1(chr20:13714429-13789519)x3
|
|
|
|
GRCh37/hg19 20q13.12(chr20:43955980-44053178)x3
|
|
|
|
GRCh37/hg19 20q13.33(chr20:58444946-58533817)x3
|
|
|
|
GRCh37/hg19 20q13.33(chr20:60882468-62045494)x1
|
|
|
|
GRCh37/hg19 22q13.33(chr22:50318056-50356682)x4
|
|
|
|
GRCh37/hg19 22q13.33(chr22:50318056-50437748)x3
|
|
|
|
GRCh37/hg19 22q13.33(chr22:50964500-51016275)x3
|
|
|
|
GRCh37/hg19 2p11.2(chr2:85598271-85843453)x3
|
|
|
|
GRCh37/hg19 2p13.2(chr2:71595585-71645751)x3
|
|
|
|
GRCh37/hg19 2p13.3(chr2:70043280-70315412)x3
|
|
|
|
GRCh37/hg19 2p16.2(chr2:53995091-54042035)x3
|
|
|
|
GRCh37/hg19 2q31.1(chr2:170009392-170072852)x3
|
|
|
|
GRCh37/hg19 2q31.1(chr2:172379152-172803266)x3
|
|
|
|
GRCh37/hg19 2q31.3-32.1(chr2:182756899-183051256)x4
|
|
|
|
GRCh37/hg19 2q34-35(chr2:211515125-215797412)x3
|
|
|
|
GRCh37/hg19 2q35(chr2:219221864-219423299)x3
|
|
|
|
GRCh37/hg19 2q37.3(chr2:238305415-238742983)x3
|
|
|
|
GRCh37/hg19 3p21.31(chr3:48501854-48541490)x3
|
|
|
|
GRCh37/hg19 3p21.31(chr3:49758015-49829191)x3
|
|
|
|
GRCh37/hg19 3p21.31(chr3:50273827-50403519)x3
|
|
|
|
GRCh37/hg19 3p26.1(chr3:4706901-5216065)x3
|
|
|
|
GRCh37/hg19 3p26.1(chr3:4726822-5164213)x4
|
|
|
|
GRCh37/hg19 3q26.31(chr3:172003745-172520446)x3
|
|
|
|
GRCh37/hg19 3q29(chr3:193333511-194338436)x3
|
|
|
|
GRCh37/hg19 4q13.2(chr4:68488897-68562395)x3
|
|
|
|
GRCh37/hg19 4q24(chr4:104035661-104119449)x3
|
|
|
|
GRCh37/hg19 4q32.3(chr4:169325195-169379102)x3
|
|
|
|
GRCh37/hg19 4q33(chr4:170482863-170581561)x4
|
|
|
|
GRCh37/hg19 4q34.1(chr4:173873299-174090050)x4
|
|
|
|
GRCh37/hg19 4q34.1(chr4:174254726-174298418)x4
|
|
|
|
GRCh37/hg19 5p13.2(chr5:37000955-37014827)x4
|
|
|
|
GRCh37/hg19 5q12.1(chr5:60240797-61658323)x3
|
|
|
|
GRCh37/hg19 5q12.3(chr5:64817329-64847428)x7
|
|
|
|
GRCh37/hg19 5q14.3(chr5:85913910-87524304)x3
|
|
|
|
GRCh37/hg19 5q23.1-23.2(chr5:121297746-121406237)x4
|
|
|
|
GRCh37/hg19 5q23.2(chr5:121409786-122337117)x3
|
|
|
|
GRCh37/hg19 5q23.3(chr5:127469912-127522256)x3
|
|
|
|
GRCh37/hg19 5q35.1(chr5:172097061-172421802)x3
|
|
|
|
GRCh37/hg19 5q35.2(chr5:173043321-174953690)x3
|
|
|
|
GRCh37/hg19 6p21.32(chr6:33256191-33400523)x3
|
|
|
|
GRCh37/hg19 6p21.33(chr6:30698482-30853003)x3
|
|
|
|
GRCh37/hg19 6p22.1(chr6:27775494-27861432)x3
|
|
|
|
GRCh37/hg19 6p22.1(chr6:30029374-30036983)x3
|
|
|
|
GRCh37/hg19 6p22.2(chr6:26020923-26056336)x4
|
|
|
|
GRCh37/hg19 6p22.2(chr6:26104332-26365573)x4
|
|
|
|
GRCh37/hg19 6p22.2-22.1(chr6:26545571-27115102)x3
|
|
|
|
GRCh37/hg19 6q22.31(chr6:123319117-123837319)x3
|
|
|
|
GRCh37/hg19 6q27(chr6:167412952-167447412)x3
|
|
|
|
GRCh37/hg19 7q11.22(chr7:70163581-70255359)x4
|
|
|
|
GRCh37/hg19 7q11.23(chr7:73122969-73256410)x3
|
|
|
|
GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3
|
|
|
|
GRCh37/hg19 7q21.3(chr7:92818582-92963470)x3
|
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GRCh37/hg19 7q21.3(chr7:94156496-94285902)x3
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GRCh37/hg19 7q36.1(chr7:149174751-149523266)x1
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GRCh37/hg19 8p11.22(chr8:39645687-39694694)x4
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GRCh37/hg19 8p22(chr8:17793168-18457910)x3
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GRCh37/hg19 8q22.2(chr8:100871620-101253185)x3
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GRCh37/hg19 9q21.2(chr9:79816302-79908341)x3
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GRCh37/hg19 9q22.31(chr9:95051642-95264865)x3
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GRCh37/hg19 9q33.2(chr9:123939453-123954476)x4
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GRCh38/hg38 12p13.2(chr12:12198797-12200966)x1
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GRCh38/hg38 12p13.32-13.31(chr12:4772521-5854093)x1
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GRCh38/hg38 15q25.2(chr15:82663590-82826799)x1
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GRCh38/hg38 16q12.1(chr16:47497444-48230506)x1
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GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1
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GRCh38/hg38 16q22.2(chr16:70855202-71067341)x1
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GRCh38/hg38 16q22.2(chr16:72059151-72063259)x0
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GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1
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GRCh38/hg38 19p13.3(chr19:1453072-1481984)x1
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GRCh38/hg38 19p13.3(chr19:1508507-1510399)x0
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GRCh38/hg38 19q13.12(chr19:35778321-35862983)x1
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GRCh38/hg38 1p36.11(chr1:26519016-26520363)x0
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GRCh38/hg38 1p36.12(chr1:20810811-20829210)x0
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GRCh38/hg38 1p36.21(chr1:13272807-13275727)x1
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GRCh38/hg38 1q31.3(chr1:196608263-197002575)x1
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GRCh38/hg38 1q42.13(chr1:228148416-228372055)x1
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GRCh38/hg38 20p13(chr20:3672810-3673617)x1
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GRCh38/hg38 20q13.33(chr20:63239482-63415015)x1
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GRCh38/hg38 21q22.3(chr21:45850091-46137287)x1
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GRCh38/hg38 2q37.1(chr2:232379030-232526243)x1
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GRCh38/hg38 3p21.31(chr3:48562955-48587488)x1
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GRCh38/hg38 6p12.2(chr6:52751643-52757905)x1
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GRCh38/hg38 6p24.2(chr6:10887131-11044230)x1
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GRCh38/hg38 9q34.3(chr9:135665886-135775364)x1
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NC_000002.11:g.(?_215557064)_(215646033_?)del
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NC_000002.11:g.(?_215590360)_(215674445_?)del
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NC_000002.11:g.(?_215590369)_(215617280_215632205)del
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NC_000002.11:g.(?_215593390)_(215634046_?)dup
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NC_000002.11:g.(?_215593390)_(215674303_?)dup
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NC_000002.11:g.(?_215593394)_(215634042_?)del
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NC_000002.11:g.(?_215593394)_(215634042_?)dup
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NC_000002.11:g.(?_215593394)_(215674299_?)dup
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NC_000002.11:g.(?_215593400)_(215593742_?)dup
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NC_000002.11:g.(?_215593400)_(215595242_?)del
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NC_000002.11:g.(?_215593400)_(215610588_?)del
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NC_000002.11:g.(?_215593400)_(215610588_?)dup
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NC_000002.11:g.(?_215593400)_(215617289_?)del
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NC_000002.11:g.(?_215593400)_(215617289_?)dup
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NC_000002.11:g.(?_215593400)_(215634046_?)del
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NC_000002.11:g.(?_215593400)_(215634056_?)dup
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NC_000002.11:g.(?_215593400)_(215646243_?)del
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NC_000002.11:g.(?_215593400)_(215646243_?)dup
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NC_000002.11:g.(?_215593400)_(215646344_?)del
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NC_000002.11:g.(?_215593400)_(215657179_?)del
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NC_000002.11:g.(?_215593400)_(215661851_?)del
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NC_000002.11:g.(?_215593400)_(215661851_?)dup
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NC_000002.11:g.(?_215593400)_(215813893_?)dup
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NC_000002.11:g.(?_215593400)_(216212339_?)dup
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NC_000002.11:g.(?_215593714)_(215598592_?)del
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NC_000002.11:g.(?_215595125)_(215595242_?)del
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NC_000002.11:g.(?_215608583)_(215610531_?)del
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NC_000002.11:g.(?_215609620)_(215674259_?)del
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NC_000002.11:g.(?_215609781)_(215609893_?)dup
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NC_000002.11:g.(?_215609781)_(215610588_?)del
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NC_000002.11:g.(?_215609781)_(215617289_?)dup
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NC_000002.11:g.(?_215609781)_(215634046_?)del
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NC_000002.11:g.(?_215609781)_(215646243_?)del
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NC_000002.11:g.(?_215609781)_(215661851_?)dup
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NC_000002.11:g.(?_215610463)_(215611817_?)del
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NC_000002.11:g.(?_215610976)_(215619002_?)del
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NC_000002.11:g.(?_215617151)_(215617299_?)dup
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NC_000002.11:g.(?_215617151)_(215674293_?)del
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NC_000002.11:g.(?_215617161)_(215617289_?)del
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NC_000002.11:g.(?_215617161)_(215674293_?)del
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NC_000002.11:g.(?_215625786)_(215646344_?)del
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NC_000002.11:g.(?_215632196)_(215657179_?)del
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NC_000002.11:g.(?_215632196)_(216212339_?)dup
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NC_000002.11:g.(?_215632232)_(215673715_?)del
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NC_000002.11:g.(?_215633946)_(215674293_?)del
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NC_000002.11:g.(?_215635923)_(215645654_?)del
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NC_000002.11:g.(?_215645264)_(215646253_?)del
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NC_000002.11:g.(?_215645274)_(215646243_?)del
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NC_000002.11:g.(?_215645274)_(215657179_?)dup
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NC_000002.11:g.(?_215645274)_(215661851_?)del
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NC_000002.11:g.(?_215645274)_(215674293_?)del
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NC_000002.11:g.(?_215645806)_(215649549_?)del
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NC_000002.11:g.(?_215657001)_(215661861_?)dup
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NC_000002.11:g.(?_215657011)_(215657179_?)del
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NC_000002.11:g.(?_215657011)_(215657179_?)dup
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NC_000002.11:g.(?_215657011)_(215661851_?)dup
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NC_000002.11:g.(?_215657011)_(215674293_?)del
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NC_000002.11:g.(?_215661765)_(215661861_?)dup
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NC_000002.11:g.(?_215661775)_(215661851_?)del
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NC_000002.11:g.(?_215661775)_(215674293_?)del
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NC_000002.11:g.(?_215661775)_(215674303_?)dup
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NC_000002.11:g.(?_215661779)_(215674299_?)dup
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NC_000002.11:g.215591300_215623516del
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NC_000002.12:g.(?_214728666)_(214730518_?)del
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NC_000002.12:g.(?_214728666)_(214730518_?)dup
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NC_000002.12:g.(?_214728666)_(214745864_?)del
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NC_000002.12:g.(?_214728666)_(214797127_?)del
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NC_000002.12:g.(?_214728666)_(214809579_?)del
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NC_000002.12:g.(?_214728670)_(214781515_?)del
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NC_000002.12:g.(?_214728676)_(214769322_?)dup
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NC_000002.12:g.(?_214728676)_(214809569_?)del
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NC_000002.12:g.(?_214728676)_(214809569_?)dup
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NC_000002.12:g.(?_214730216)_(214769312_?)del
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NC_000002.12:g.(?_214745057)_(214767664_?)del
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NC_000002.12:g.(?_214745057)_(214809569_?)del
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NC_000002.12:g.(?_214745057)_(214809579_?)del
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NC_000002.12:g.(?_214745712)_(214752565_?)del
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NC_000002.12:g.(?_214745716)_(214752561_?)del
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NC_000002.12:g.(?_214752437)_(214781519_?)del
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NC_000002.12:g.(?_214752437)_(214809579_?)del
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NC_000002.12:g.(?_214752441)_(214752561_?)del
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NC_000002.12:g.(?_214767472)_(214767664_?)del
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NC_000002.12:g.(?_214767472)_(214767664_?)dup
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NC_000002.12:g.(?_214767472)_(214769322_?)del
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NC_000002.12:g.(?_214767472)_(214781519_?)dup
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NC_000002.12:g.(?_214767472)_(214809569_?)del
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NC_000002.12:g.(?_214767476)_(214769318_?)del
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NC_000002.12:g.(?_214769222)_(214769322_?)del
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NC_000002.12:g.(?_214780550)_(214809579_?)del
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NC_000002.12:g.(?_214780554)_(214781515_?)del
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NC_000002.12:g.(?_214797051)_(214809569_?)dup
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NC_000002.12:g.(?_214797055)_(214809575_?)del
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NC_000002.12:g.(?_214809402)_(214809569_?)del
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NC_000002.12:g.(?_214809402)_(214809579_?)del
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NC_000002.12:g.(?_214809406)_(214809575_?)del
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NC_000002.12:g.214809692G>A
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rs551544754
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NC_000008.11:g.52623770_52685461del
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NC_000011.10:g.(108286180_108289631)del
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NC_000011.10:g.108227776_108227782del
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NC_000011.10:g.108293313del
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NC_000011.10:g.108304675del
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NC_000011.10:g.108335846del
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NC_000011.9:g.(108168110_108170440)_(108178712_108180886)del
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NC_000011.9:g.(108225602_108235808)_(108239827_?)del
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NC_000011.9:g.108105163_108155884del
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NC_000011.9:g.108108886_108205398del
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NC_000016.10:g.(23608013_23614003)_(23626398_23629203)del
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NC_000016.10:g.(?_23603162)_(23603669_?)del
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NC_000016.10:g.(?_23603162)_(23603670_23607863)del
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NC_000016.10:g.(?_23603162)_(23608013_23614003)del
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NC_000016.10:g.(?_23603162)_(23641357_?)del
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NC_000016.10:g.(?_23603313)_(23603679_?)del
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NC_000016.10:g.(?_23603313)_(23603679_?)dup
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NC_000016.10:g.(?_23603313)_(23608022_?)del
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NC_000016.10:g.(?_23603313)_(23626407_?)del
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NC_000016.10:g.(?_23603313)_(23641157_?)del
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NC_000016.10:g.(?_23603449)_(23603679_?)del
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NC_000016.10:g.(?_23603449)_(23608022_?)del
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NC_000016.10:g.(?_23603449)_(23614101_?)del
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NC_000016.10:g.(?_23603449)_(23626407_?)del
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NC_000016.10:g.(?_23603449)_(23641167_?)del
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NC_000016.10:g.(?_23603453)_(23614097_?)del
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NC_000016.10:g.(?_23603459)_(23608012_?)del
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NC_000016.10:g.(?_23603459)_(23626397_?)del
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NC_000016.10:g.(?_23613994)_(23624104_?)del
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NC_000016.10:g.(?_23613994)_(23624104_?)dup
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NC_000016.10:g.(?_23613994)_(23626407_?)del
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NC_000016.10:g.(?_23621352)_(23621488_?)del
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NC_000016.10:g.(?_23621352)_(23624104_?)dup
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NC_000016.10:g.(?_23621352)_(23626407_?)del
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NC_000016.10:g.(?_23621352)_(23636344_?)del
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NC_000016.10:g.(?_23621352)_(23641167_?)del
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NC_000016.10:g.(?_23621362)_(23623130_?)del
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NC_000016.10:g.(?_23621362)_(23626397_?)del
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NC_000016.10:g.(?_23623999)_(23624104_?)del
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NC_000016.10:g.(?_23623999)_(23626407_?)del
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NC_000016.10:g.(?_23624009)_(23624094_?)del
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NC_000016.10:g.(?_23626226)_(23630479_?)del
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NC_000016.10:g.(?_23626226)_(23636344_?)del
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NC_000016.10:g.(?_23626236)_(23630469_?)del
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NC_000016.10:g.(?_23629194)_(23630479_?)del
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NC_000016.10:g.(?_23629194)_(23641157_?)del
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NC_000016.10:g.(?_23629194)_(23641167_?)dup
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NC_000016.10:g.(?_23629630)_(23630479_?)del
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NC_000016.10:g.(?_23634852)_(23638139_?)del
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NC_000016.10:g.(?_23634852)_(23641157_?)dup
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NC_000016.10:g.(?_23634852)_(23641167_?)del
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NC_000016.10:g.(?_23634856)_(23641163_?)del
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NC_000016.10:g.(?_23637840)_(23638139_?)del
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NC_000016.10:g.(?_23637840)_(23641167_?)del
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NC_000016.10:g.23608013del
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rs2142274423
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NC_000016.10:g.23641516C>G
|
rs515726057
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NC_000016.9:g.(23619334_23625324)_(23625413_23632682)del
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NC_000016.9:g.(23634452_23635329)_(23635416_23637556)del
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NC_000016.9:g.(23634452_23635392)_(23635416_23637556)del
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NC_000016.9:g.(23635363_23635382)_(23635416_23637556)del
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NC_000016.9:g.(23635416_23637556)_(23647656_23649170)del
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NC_000016.9:g.(68771367_68772199)_(68772315_68835572)del
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NC_000016.9:g.(68857530_68862076)_(68863701_68867192)dup
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NC_000016.9:g.(?_23584033)_(23647150_?)del
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NC_000016.9:g.(?_23605874)_(23640542_?)del
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NC_000016.9:g.(?_23614482)_(23614991_23619184)del
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NC_000016.9:g.(?_23614482)_(23619334_23625324)del
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NC_000016.9:g.(?_23614482)_(23637719_23640524)del
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NC_000016.9:g.(?_23614634)_(23619343_?)dup
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NC_000016.9:g.(?_23614634)_(23625422_?)del
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NC_000016.9:g.(?_23614634)_(23625422_?)dup
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NC_000016.9:g.(?_23614634)_(23634461_?)del
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NC_000016.9:g.(?_23614634)_(23649460_?)del
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NC_000016.9:g.(?_23614634)_(23652478_?)dup
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NC_000016.9:g.(?_23614770)_(23615000_?)dup
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NC_000016.9:g.(?_23614770)_(23619343_?)dup
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NC_000016.9:g.(?_23614770)_(23652488_?)dup
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NC_000016.9:g.(?_23614774)_(23614996_?)dup
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NC_000016.9:g.(?_23614780)_(23652478_?)del
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NC_000016.9:g.(?_23619175)_(23619343_?)del
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NC_000016.9:g.(?_23619175)_(23619343_?)dup
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NC_000016.9:g.(?_23619175)_(23625422_?)del
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NC_000016.9:g.(?_23619175)_(23625422_?)dup
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NC_000016.9:g.(?_23619175)_(23649460_?)del
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NC_000016.9:g.(?_23619175)_(23652478_?)del
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NC_000016.9:g.(?_23619175)_(23652478_?)dup
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NC_000016.9:g.(?_23619179)_(23625418_?)dup
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NC_000016.9:g.(?_23622903)_(23625309_?)del
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NC_000016.9:g.(?_23625315)_(23625422_?)del
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NC_000016.9:g.(?_23625315)_(23625422_?)dup
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NC_000016.9:g.(?_23625315)_(23634461_?)del
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NC_000016.9:g.(?_23625315)_(23652478_?)del
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NC_000016.9:g.(?_23632663)_(23634471_?)del
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NC_000016.9:g.(?_23632663)_(23652478_?)del
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NC_000016.9:g.(?_23637537)_(23641810_?)dup
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NC_000016.9:g.(?_23646183)_(23652678_?)dup
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NC_000016.9:g.23641376_23641377insAlu
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NC_000017.10:g.(59934593_59937230)_(59938931_59940644)del
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NC_000017.10:g.(?_59760647)_(59761511_?)dup
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NC_000017.10:g.(?_59770785)_(59770879_?)dup
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NC_000017.10:g.(?_59820354)_(59886138_?)dup
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NC_000017.10:g.(?_59861621)_(59937278_?)dup
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NC_000022.11:g.(?_28703505)_(28703566_?)del
|
|
|
|
NC_000022.11:g.(?_28709996)_(28710069_?)del
|
|
|
|
NC_000022.11:g.(?_28709996)_(28712027_?)del
|
|
|
|
NC_000022.11:g.(?_28709996)_(28712027_?)dup
|
|
|
|
NC_000022.11:g.(?_28709996)_(28725377_?)dup
|
|
|
|
NC_000022.11:g.(?_28709996)_(28734731_?)del
|
|
|
|
NC_000022.11:g.(?_28710000)_(28712023_?)del
|
|
|
|
NC_000022.11:g.(?_28710006)_(28719485_?)del
|
|
|
|
NC_000022.11:g.(?_28711899)_(28712027_?)del
|
|
|
|
NC_000022.11:g.(?_28719385)_(28725377_?)dup
|
|
|
|
NC_000022.11:g.(?_28719385)_(28734725_?)del
|
|
|
|
NC_000022.11:g.(?_28719385)_(28734731_?)del
|
|
|
|
NC_000022.11:g.(?_28724967)_(28725377_?)del
|
|
|
|
NC_000022.11:g.(?_28724967)_(28734725_?)del
|
|
|
|
NC_000022.11:g.(?_28724967)_(28734731_?)del
|
|
|
|
NC_000022.11:g.(?_28724977)_(28725367_?)del
|
|
|
|
NC_000022.11:g.(?_28725237)_(28725373_?)del
|
|
|
|
NC_000022.11:g.(?_28734393)_(28734725_?)del
|
|
|
|
NC_000022.11:g.(?_28734393)_(28734731_?)del
|
|
|
|
NC_000022.11:g.28710060del
|
|
|
|
NC_000022.11:g.28712013CAC[1]
|
rs2053418933
|
|
|
NC_012920.1(MT-CYB):m.14766C>T
|
rs193302980
|
|
|
NC_012920.1(MT-CYB):m.14783T>C
|
rs193302982
|
|
|
NC_012920.1(MT-CYB):m.14800C>T
|
rs527236164
|
|
|
NC_012920.1(MT-CYB):m.14891C>G
|
rs386419981
|
|
|
NC_012920.1(MT-CYB):m.14905G>A
|
rs193302983
|
|
|
NC_012920.1(MT-CYB):m.14935T>C
|
rs527236204
|
|
|
NC_012920.1(MT-CYB):m.14950C>T
|
rs527236166
|
|
|
NC_012920.1(MT-CYB):m.14968T>C
|
rs527236167
|
|
|
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.15049C>T
|
rs527236170
|
|
|
NC_012920.1(MT-CYB):m.15214T>C
|
rs527236173
|
|
|
NC_012920.1(MT-CYB):m.15226A>G
|
rs527236174
|
|
|
NC_012920.1(MT-CYB):m.15287T>C
|
rs527236044
|
|
|
NC_012920.1(MT-CYB):m.15289T>C
|
rs527236175
|
|
|
NC_012920.1(MT-CYB):m.15301G>A
|
rs193302991
|
|
|
NC_012920.1(MT-CYB):m.15323G>A
|
rs527236177
|
|
|
NC_012920.1(MT-CYB):m.15326A>G
|
rs2853508
|
|
|
NC_012920.1(MT-CYB):m.15346G>A
|
rs527236180
|
|
|
NC_012920.1(MT-CYB):m.15349C>A
|
rs527236201
|
|
|
NC_012920.1(MT-CYB):m.15349C>T
|
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.15458T>C
|
rs527236185
|
|
|
NC_012920.1(MT-CYB):m.15470T>C
|
rs527236187
|
|
|
NC_012920.1(MT-CYB):m.15553G>A
|
rs527236189
|
|
|
NC_012920.1(MT-CYB):m.15637C>T
|
rs527236190
|
|
|
NC_012920.1(MT-CYB):m.15649A>G
|
rs527236191
|
|
|
NC_012920.1(MT-CYB):m.15682A>G
|
rs527236192
|
|
|
NC_012920.1(MT-CYB):m.15758A>G
|
rs527236193
|
|
|
NC_012920.1(MT-CYB):m.15784T>C
|
rs527236194
|
|
|
NC_012920.1(MT-TE):m.14732A>G
|
rs527236202
|
|
|
NC_012920.1(MT-TT):m.15927G>A
|
rs193303002
|
|
|
NG_008150.2:g.(27473_34849)_(43363_46929)dup
|
|
|
|
NG_008150.2:g.14927_51132dup
|
|
|
|
NM_000038.6(APC):c.-2_135+1824del
|
|
|
|
NM_000038.6(APC):c.170A>T (p.Asp57Val)
|
rs794729227
|
|
|
NM_000038.6(APC):c.391A>G (p.Thr131Ala)
|
rs1580329587
|
|
|
NM_000038.6(APC):c.5684C>T (p.Thr1895Ile)
|
rs752605851
|
|
|
NM_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
|
NM_000051.3(ATM):c.6007dup
|
rs1555113505
|
|
|
NM_000051.3:g.(?_108175383)_(108188278_?)del
|
|
|
|
NM_000051.4(ATM):c.-30-1G>T
|
rs869312754
|
|
|
NM_000051.4(ATM):c.1000_1001insA (p.Ser334fs)
|
|
|
|
NM_000051.4(ATM):c.1001C>G (p.Ser334Ter)
|
|
|
|
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter)
|
rs1555068471
|
|
|
NM_000051.4(ATM):c.1008T>C (p.Phe336=)
|
rs1555068492
|
|
|
NM_000051.4(ATM):c.1012A>G (p.Asn338Asp)
|
rs751800302
|
|
|
NM_000051.4(ATM):c.1012_1014delinsCTTCAGG (p.Asn338fs)
|
|
|
|
NM_000051.4(ATM):c.1017del (p.Ile339fs)
|
rs1469427343
|
|
|
NM_000051.4(ATM):c.1020C>A (p.Ala340=)
|
rs546927781
|
|
|
NM_000051.4(ATM):c.1020C>T (p.Ala340=)
|
rs546927781
|
|
|
NM_000051.4(ATM):c.1027G>T (p.Glu343Ter)
|
|
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
|
NM_000051.4(ATM):c.1033T>C (p.Leu345=)
|
|
|
|
NM_000051.4(ATM):c.1035G>A (p.Leu345=)
|
rs2135268584
|
|
|
NM_000051.4(ATM):c.1037_1040del (p.Ile346fs)
|
rs2135268548
|
|
|
NM_000051.4(ATM):c.1039G>T (p.Glu347Ter)
|
|
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
|
NM_000051.4(ATM):c.1042T>C (p.Leu348=)
|
rs746733866
|
|
|
NM_000051.4(ATM):c.1044G>A (p.Leu348=)
|
rs879254039
|
|
|
NM_000051.4(ATM):c.1044_1045del (p.Leu348fs)
|
rs2079890365
|
|
|
NM_000051.4(ATM):c.1045_1052del (p.Met349fs)
|
rs1565375817
|
|
|
NM_000051.4(ATM):c.1052A>T (p.Asp351Val)
|
rs1057521618
|
|
|
NM_000051.4(ATM):c.1053dup (p.Ile352fs)
|
rs587781984
|
|
|
NM_000051.4(ATM):c.1056C>T (p.Ile352=)
|
rs1555068605
|
|
|
NM_000051.4(ATM):c.1058G>T (p.Cys353Phe)
|
|
|
|
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs)
|
rs1555068609
|
|
|
NM_000051.4(ATM):c.105A>G (p.Arg35=)
|
|
|
|
NM_000051.4(ATM):c.1061dup (p.His354fs)
|
|
|
|
NM_000051.4(ATM):c.1062C>T (p.His354=)
|
rs773365379
|
|
|
NM_000051.4(ATM):c.1062_1063delinsTT (p.Gln355Ter)
|
|
|
|
NM_000051.4(ATM):c.1062_1065+5del
|
|
|
|
NM_000051.4(ATM):c.1063C>T (p.Gln355Ter)
|
rs1555068615
|
|
|
NM_000051.4(ATM):c.1065+10G>A
|
rs1591511658
|
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
|
NM_000051.4(ATM):c.1065+4C>T
|
rs1591511595
|
|
|
NM_000051.4(ATM):c.1065+9_1065+12del
|
rs1486083030
|
|
|
NM_000051.4(ATM):c.1066-14T>C
|
|
|
|
NM_000051.4(ATM):c.1066-15A>G
|
rs771020891
|
|
|
NM_000051.4(ATM):c.1066-16T>C
|
|
|
|
NM_000051.4(ATM):c.1066-18T>C
|
|
|
|
NM_000051.4(ATM):c.1066-19A>G
|
|
|
|
NM_000051.4(ATM):c.1066-19A>T
|
|
|
|
NM_000051.4(ATM):c.1066-1G>A
|
rs876660038
|
|
|
NM_000051.4(ATM):c.1066-20G>T
|
rs1565378678
|
|
|
NM_000051.4(ATM):c.1066-2A>G
|
|
|
|
NM_000051.4(ATM):c.1066-2A>T
|
rs1555069514
|
|
|
NM_000051.4(ATM):c.1066-3_1072del
|
rs1591517089
|
|
|
NM_000051.4(ATM):c.1066-8T>C
|
|
|
|
NM_000051.4(ATM):c.1068T>C (p.Val356=)
|
rs1462038794
|
|
|
NM_000051.4(ATM):c.1068T>G (p.Val356=)
|
|
|
|
NM_000051.4(ATM):c.106_113del (p.Asp36fs)
|
|
|
|
NM_000051.4(ATM):c.1071T>C (p.Phe357=)
|
rs1057521608
|
|
|
NM_000051.4(ATM):c.1073del (p.Asn358fs)
|
|
|
|
NM_000051.4(ATM):c.1073dup (p.Asn358fs)
|
rs1591517182
|
|
|
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
|
|
|
|
NM_000051.4(ATM):c.1078del (p.Asp360fs)
|
rs2135290302
|
|
|
NM_000051.4(ATM):c.1079A>T (p.Asp360Val)
|
rs775767808
|
|
|
NM_000051.4(ATM):c.1086A>G (p.Arg362=)
|
rs142591268
|
|
|
NM_000051.4(ATM):c.1089C>T (p.Ser363=)
|
rs1555069567
|
|
|
NM_000051.4(ATM):c.1092G>A (p.Leu364=)
|
|
|
|
NM_000051.4(ATM):c.1095_1101delinsA (p.Ile366_Ser367del)
|
rs878853481
|
|
|
NM_000051.4(ATM):c.1102C>G (p.Gln368Glu)
|
rs1565378912
|
|
|
NM_000051.4(ATM):c.1102C>T (p.Gln368Ter)
|
|
|
|
NM_000051.4(ATM):c.1107T>C (p.Ser369=)
|
|
|
|
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)
|
rs1555069617
|
|
|
NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter)
|
rs376170600
|
|
|
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter)
|
rs376170600
|
|
|
NM_000051.4(ATM):c.1110del (p.Ser369_Tyr370insTer)
|
rs1591517456
|
|
|
NM_000051.4(ATM):c.1116T>C (p.Thr372=)
|
rs371985921
|
|
|
NM_000051.4(ATM):c.1116T>G (p.Thr372=)
|
|
|
|
NM_000051.4(ATM):c.1119A>T (p.Thr373=)
|
rs754889105
|
|
|
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)
|
rs1185204988
|
|
|
NM_000051.4(ATM):c.1120del (p.Gln374fs)
|
rs2135292079
|
|
|
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs)
|
rs1591517571
|
|
|
NM_000051.4(ATM):c.1124del (p.Arg375fs)
|
rs1555069653
|
|
|
NM_000051.4(ATM):c.1125A>G (p.Arg375=)
|
rs2135292242
|
|
|
NM_000051.4(ATM):c.1126_1127del (p.Glu376fs)
|
rs1064795624
|
|
|
NM_000051.4(ATM):c.1128A>G (p.Glu376=)
|
rs1186427608
|
|
|
NM_000051.4(ATM):c.1128dup (p.Ser377fs)
|
|
|
|
NM_000051.4(ATM):c.1131T>C (p.Ser377=)
|
rs2135292457
|
|
|
NM_000051.4(ATM):c.1140C>T (p.Tyr380=)
|
rs2135292742
|
|
|
NM_000051.4(ATM):c.1140_1141del (p.Tyr380_Ser381delinsTer)
|
rs1555069677
|
|
|
NM_000051.4(ATM):c.1141dup (p.Ser381fs)
|
|
|
|
NM_000051.4(ATM):c.1143T>C (p.Ser381=)
|
rs755991658
|
|
|
NM_000051.4(ATM):c.1146C>G (p.Val382=)
|
rs786201150
|
|
|
NM_000051.4(ATM):c.1146C>T (p.Val382=)
|
rs786201150
|
|
|
NM_000051.4(ATM):c.1149T>C (p.Pro383=)
|
rs786201409
|
|
|
NM_000051.4(ATM):c.114A>G (p.Glu38=)
|
rs1591446969
|
|
|
NM_000051.4(ATM):c.1152C>A (p.Cys384Ter)
|
|
|
|
NM_000051.4(ATM):c.1152C>T (p.Cys384=)
|
|
|
|
NM_000051.4(ATM):c.1158del (p.Lys387fs)
|
rs587782085
|
|
|
NM_000051.4(ATM):c.1161G>A (p.Lys387=)
|
rs786202369
|
|
|
NM_000051.4(ATM):c.1164A>G (p.Lys388=)
|
|
|
|
NM_000051.4(ATM):c.1165A>G (p.Ile389Val)
|
rs1060501704
|
|
|
NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)
|
|
|
|
NM_000051.4(ATM):c.1168G>A (p.Glu390Lys)
|
rs876660106
|
|
|
NM_000051.4(ATM):c.1168G>T (p.Glu390Ter)
|
rs876660106
|
|
|
NM_000051.4(ATM):c.1170A>G (p.Glu390=)
|
rs2135293693
|
|
|
NM_000051.4(ATM):c.1171del (p.Glu390_Leu391insTer)
|
|
|
|
NM_000051.4(ATM):c.1172dup (p.Gly392fs)
|
|
|
|
NM_000051.4(ATM):c.1176C>A (p.Gly392=)
|
|
|
|
NM_000051.4(ATM):c.1176C>T (p.Gly392=)
|
rs1800727
|
|
|
NM_000051.4(ATM):c.1178G>A (p.Trp393Ter)
|
rs1025339570
|
|
|
NM_000051.4(ATM):c.1179G>A (p.Trp393Ter)
|
rs876658567
|
|
|
NM_000051.4(ATM):c.1179G>C (p.Trp393Cys)
|
rs876658567
|
|
|
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)
|
rs876659450
|
|
|
NM_000051.4(ATM):c.117A>G (p.Thr39=)
|
|
|
|
NM_000051.4(ATM):c.1185A>G (p.Val395=)
|
rs1555069760
|
|
|
NM_000051.4(ATM):c.1190_1191del (p.Lys397fs)
|
rs2079998938
|
|
|
NM_000051.4(ATM):c.1194T>A (p.Asp398Glu)
|
rs551872656
|
|
|
NM_000051.4(ATM):c.1194T>C (p.Asp398=)
|
rs551872656
|
|
|
NM_000051.4(ATM):c.1201C>T (p.Gln401Ter)
|
|
|
|
NM_000051.4(ATM):c.1204A>T (p.Lys402Ter)
|
|
|
|
NM_000051.4(ATM):c.1209_1228delinsTTC (p.Gln404fs)
|
|
|
|
NM_000051.4(ATM):c.1212G>A (p.Gln404=)
|
rs786201519
|
|
|
NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer)
|
rs1060501609
|
|
|
NM_000051.4(ATM):c.1215del (p.Asn405fs)
|
rs1555069815
|
|
|
NM_000051.4(ATM):c.1218T>C (p.Asp406=)
|
rs2135295378
|
|
|
NM_000051.4(ATM):c.1219_1221dup (p.Phe407dup)
|
rs1064792998
|
|
|
NM_000051.4(ATM):c.121A>T (p.Lys41Ter)
|
|
|
|
NM_000051.4(ATM):c.1227T>C (p.Leu409=)
|
rs1060504273
|
|
|
NM_000051.4(ATM):c.1228G>A (p.Val410Met)
|
rs863224555
|
|
|
NM_000051.4(ATM):c.1233T>G (p.Pro411=)
|
rs1591518323
|
|
|
NM_000051.4(ATM):c.1235+10_1235+28del
|
rs1591518436
|
|
|
NM_000051.4(ATM):c.1235+1G>A
|
rs1555069881
|
|
|
NM_000051.4(ATM):c.1235+1dup
|
|
|
|
NM_000051.4(ATM):c.1235+4A>G
|
rs786203147
|
|
|
NM_000051.4(ATM):c.1235+4_1235+5del
|
rs770033355
|
|
|
NM_000051.4(ATM):c.1236-10T>C
|
rs1364244917
|
|
|
NM_000051.4(ATM):c.1236-16T>C
|
|
|
|
NM_000051.4(ATM):c.1236-17T>C
|
|
|
|
NM_000051.4(ATM):c.1236-18C>T
|
rs201767651
|
|
|
NM_000051.4(ATM):c.1236-1G>A
|
rs1408719214
|
|
|
NM_000051.4(ATM):c.1236-20T>C
|
rs2080084457
|
|
|
NM_000051.4(ATM):c.1236-27_1236-18del
|
|
|
|
NM_000051.4(ATM):c.1236-2A>G
|
rs80159221
|
|
|
NM_000051.4(ATM):c.1236-2del
|
rs1565381646
|
|
|
NM_000051.4(ATM):c.1236-3T>C
|
rs763976313
|
|
|
NM_000051.4(ATM):c.1236-3_1236-2del
|
rs587782572
|
|
|
NM_000051.4(ATM):c.1236-3_1236-2insC
|
rs730881281
|
|
|
NM_000051.4(ATM):c.1236-3dup
|
rs34325032
|
|
|
NM_000051.4(ATM):c.1236-5T>C
|
rs1591522569
|
|
|
NM_000051.4(ATM):c.1236G>A (p.Trp412Ter)
|
|
|
|
NM_000051.4(ATM):c.1239A>G (p.Leu413=)
|
|
|
|
NM_000051.4(ATM):c.1240C>A (p.Gln414Lys)
|
rs866521873
|
|
|
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter)
|
rs866521873
|
|
|
NM_000051.4(ATM):c.1246G>C (p.Ala416Pro)
|
|
|
|
NM_000051.4(ATM):c.1249del (p.Thr417fs)
|
rs786203166
|
|
|
NM_000051.4(ATM):c.1251C>A (p.Thr417=)
|
|
|
|
NM_000051.4(ATM):c.1251C>G (p.Thr417=)
|
rs1555070643
|
|
|
NM_000051.4(ATM):c.1251C>T (p.Thr417=)
|
rs1555070643
|
|
|
NM_000051.4(ATM):c.1252C>T (p.Gln418Ter)
|
|
|
|
NM_000051.4(ATM):c.1257A>G (p.Leu419=)
|
rs779037197
|
|
|
NM_000051.4(ATM):c.125A>T (p.His42Leu)
|
|
|
|
NM_000051.4(ATM):c.1260A>C (p.Ile420=)
|
rs750468699
|
|
|
NM_000051.4(ATM):c.1262C>G (p.Ser421Ter)
|
rs2135316531
|
|
|
NM_000051.4(ATM):c.1262C>T (p.Ser421Leu)
|
|
|
|
NM_000051.4(ATM):c.1263A>G (p.Ser421=)
|
rs1060504285
|
|
|
NM_000051.4(ATM):c.1264A>T (p.Lys422Ter)
|
rs1555070678
|
|
|
NM_000051.4(ATM):c.1266G>A (p.Lys422=)
|
rs1057520445
|
|
|
NM_000051.4(ATM):c.1268A>G (p.Tyr423Cys)
|
rs1064796159
|
|
|
NM_000051.4(ATM):c.1273G>A (p.Ala425Thr)
|
rs769214234
|
|
|
NM_000051.4(ATM):c.1274_1277del (p.Ala425fs)
|
rs1591523010
|
|
|
NM_000051.4(ATM):c.1275A>G (p.Ala425=)
|
rs1591523031
|
|
|
NM_000051.4(ATM):c.127C>A (p.Leu43Ile)
|
rs772591447
|
|
|
NM_000051.4(ATM):c.1285_1288del (p.Asn429fs)
|
rs1555070694
|
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
|
NM_000051.4(ATM):c.1293G>A (p.Glu431=)
|
rs2135317554
|
|
|
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln)
|
rs546621356
|
|
|
NM_000051.4(ATM):c.1296G>C (p.Leu432=)
|
rs876658894
|
|
|
NM_000051.4(ATM):c.1299T>C (p.Ser433=)
|
|
|
|
NM_000051.4(ATM):c.1302A>T (p.Pro434=)
|
|
|
|
NM_000051.4(ATM):c.1305del (p.Leu435fs)
|
rs1555070719
|
|
|
NM_000051.4(ATM):c.1314A>C (p.Ile438=)
|
rs770573462
|
|
|
NM_000051.4(ATM):c.1315C>T (p.Leu439=)
|
|
|
|
NM_000051.4(ATM):c.1321C>T (p.Gln441Ter)
|
rs1565382267
|
|
|
NM_000051.4(ATM):c.1327C>T (p.Leu443=)
|
rs1057524185
|
|
|
NM_000051.4(ATM):c.1329A>G (p.Leu443=)
|
rs201460863
|
|
|
NM_000051.4(ATM):c.1329A>T (p.Leu443=)
|
rs201460863
|
|
|
NM_000051.4(ATM):c.1329del (p.Gln445fs)
|
rs587782844
|
|
|
NM_000051.4(ATM):c.1332C>G (p.Pro444=)
|
|
|
|
NM_000051.4(ATM):c.1333C>T (p.Gln445Ter)
|
rs2080097197
|
|
|
NM_000051.4(ATM):c.1333del (p.Gln445fs)
|
rs1060501701
|
|
|
NM_000051.4(ATM):c.1336C>T (p.Gln446Ter)
|
rs587782121
|
|
|
NM_000051.4(ATM):c.133C>A (p.Arg45=)
|
rs3218684
|
|
|
NM_000051.4(ATM):c.1340G>T (p.Arg447Leu)
|
rs760676955
|
|
|
NM_000051.4(ATM):c.1346G>A (p.Gly449Glu)
|
rs1163918420
|
|
|
NM_000051.4(ATM):c.1347G>A (p.Gly449=)
|
rs1591523440
|
|
|
NM_000051.4(ATM):c.1348del (p.Glu450fs)
|
rs758004668
|
|
|
NM_000051.4(ATM):c.1350A>G (p.Glu450=)
|
rs2135319715
|
|
|
NM_000051.4(ATM):c.1353T>C (p.Arg451=)
|
|
|
|
NM_000051.4(ATM):c.1354A>G (p.Thr452Ala)
|
rs1324524747
|
|
|
NM_000051.4(ATM):c.1355del (p.Thr452fs)
|
rs587781776
|
|
|
NM_000051.4(ATM):c.1359A>G (p.Pro453=)
|
rs786203693
|
|
|
NM_000051.4(ATM):c.135G>A (p.Arg45=)
|
rs970407823
|
|
|
NM_000051.4(ATM):c.135G>C (p.Arg45=)
|
rs970407823
|
|
|
NM_000051.4(ATM):c.135G>T (p.Arg45=)
|
rs970407823
|
|
|
NM_000051.4(ATM):c.1361_1362del (p.Tyr454fs)
|
|
|
|
NM_000051.4(ATM):c.1364T>C (p.Val455Ala)
|
rs876658772
|
|
|
NM_000051.4(ATM):c.1365G>A (p.Val455=)
|
rs765130666
|
|
|
NM_000051.4(ATM):c.1367del (p.Leu456fs)
|
rs1555070832
|
|
|
NM_000051.4(ATM):c.1368dup (p.Arg457fs)
|
rs1565382593
|
|
|
NM_000051.4(ATM):c.1370G>A (p.Arg457Gln)
|
rs780097986
|
|
|
NM_000051.4(ATM):c.1370G>T (p.Arg457Leu)
|
rs780097986
|
|
|
NM_000051.4(ATM):c.1372_1397dup (p.Gln466fs)
|
rs2135320462
|
|
|
NM_000051.4(ATM):c.1374C>A (p.Cys458Ter)
|
|
|
|
NM_000051.4(ATM):c.1374C>T (p.Cys458=)
|
rs2135320531
|
|
|
NM_000051.4(ATM):c.1378dup (p.Thr460fs)
|
rs2080101851
|
|
|
NM_000051.4(ATM):c.1380G>A (p.Thr460=)
|
rs145333518
|
|
|
NM_000051.4(ATM):c.1380G>C (p.Thr460=)
|
rs145333518
|
|
|
NM_000051.4(ATM):c.1381G>A (p.Glu461Lys)
|
rs781578507
|
|
|
NM_000051.4(ATM):c.1383A>G (p.Glu461=)
|
rs748493136
|
|
|
NM_000051.4(ATM):c.1386T>A (p.Val462=)
|
rs1591523725
|
|
|
NM_000051.4(ATM):c.1388C>A (p.Ala463Glu)
|
|
|
|
NM_000051.4(ATM):c.1389A>G (p.Ala463=)
|
rs2080102935
|
|
|
NM_000051.4(ATM):c.138_141del (p.His46fs)
|
rs786203370
|
|
|
NM_000051.4(ATM):c.1390T>C (p.Leu464=)
|
|
|
|
NM_000051.4(ATM):c.1391_1395del (p.Leu464fs)
|
rs2080103035
|
|
|
NM_000051.4(ATM):c.1396C>G (p.Gln466Glu)
|
rs876660485
|
|
|
NM_000051.4(ATM):c.1398A>G (p.Gln466=)
|
rs1591523834
|
|
|
NM_000051.4(ATM):c.1401C>T (p.Asp467=)
|
|
|
|
NM_000051.4(ATM):c.1404G>A (p.Lys468=)
|
rs2135321676
|
|
|
NM_000051.4(ATM):c.140C>G (p.Ser47Ter)
|
rs774185390
|
|
|
NM_000051.4(ATM):c.1410A>C (p.Ser470=)
|
rs939650649
|
|
|
NM_000051.4(ATM):c.1414C>T (p.Leu472=)
|
|
|
|
NM_000051.4(ATM):c.1416A>G (p.Leu472=)
|
rs786201691
|
|
|
NM_000051.4(ATM):c.1419A>G (p.Glu473=)
|
rs2135322174
|
|
|
NM_000051.4(ATM):c.1421G>T (p.Ser474Ile)
|
rs876659240
|
|
|
NM_000051.4(ATM):c.1425A>C (p.Ser475=)
|
|
|
|
NM_000051.4(ATM):c.1425A>G (p.Ser475=)
|
rs2080105606
|
|
|
NM_000051.4(ATM):c.1426C>T (p.Gln476Ter)
|
|
|
|
NM_000051.4(ATM):c.1428A>G (p.Gln476=)
|
rs745509434
|
|
|
NM_000051.4(ATM):c.1431G>A (p.Lys477=)
|
rs1555070941
|
|
|
NM_000051.4(ATM):c.1431G>C (p.Lys477Asn)
|
rs1555070941
|
|
|
NM_000051.4(ATM):c.1433C>A (p.Ser478Ter)
|
rs2080106350
|
|
|
NM_000051.4(ATM):c.1434A>G (p.Ser478=)
|
rs2135322636
|
|
|
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs)
|
rs1555070947
|
|
|
NM_000051.4(ATM):c.1439del (p.Leu480fs)
|
|
|
|
NM_000051.4(ATM):c.1441T>C (p.Leu481=)
|
|
|
|
NM_000051.4(ATM):c.1446del (p.Lys482fs)
|
rs1060501670
|
|
|
NM_000051.4(ATM):c.1449C>A (p.Leu483=)
|
|
|
|
NM_000051.4(ATM):c.1449C>G (p.Leu483=)
|
rs948934905
|
|
|
NM_000051.4(ATM):c.1449C>T (p.Leu483=)
|
|
|
|
NM_000051.4(ATM):c.1450_1451del (p.Trp484fs)
|
|
|
|
NM_000051.4(ATM):c.1461T>C (p.Ile487=)
|
|
|
|
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)
|
rs377597949
|
|
|
NM_000051.4(ATM):c.1464del (p.Trp488fs)
|
rs1555070994
|
|
|
NM_000051.4(ATM):c.1467dup (p.Ile490fs)
|
rs1555071002
|
|
|
NM_000051.4(ATM):c.1468A>G (p.Ile490Val)
|
rs761850075
|
|
|
NM_000051.4(ATM):c.1473C>A (p.Thr491=)
|
rs764937436
|
|
|
NM_000051.4(ATM):c.1473C>T (p.Thr491=)
|
rs764937436
|
|
|
NM_000051.4(ATM):c.1479del (p.Gly494fs)
|
|
|
|
NM_000051.4(ATM):c.147C>T (p.Ser49=)
|
rs876660033
|
|
|
NM_000051.4(ATM):c.147_148insG (p.Lys50fs)
|
|
|
|
NM_000051.4(ATM):c.1486_1487insCA (p.Ser496fs)
|
|
|
|
NM_000051.4(ATM):c.1488T>C (p.Ser496=)
|
|
|
|
NM_000051.4(ATM):c.1491T>C (p.Ser497=)
|
rs1555071057
|
|
|
NM_000051.4(ATM):c.1492G>C (p.Glu498Gln)
|
rs1555071060
|
|
|
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter)
|
rs1555071075
|
|
|
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter)
|
rs1281817400
|
|
|
NM_000051.4(ATM):c.1503_1521del (p.Gln501fs)
|
|
|
|
NM_000051.4(ATM):c.1514_1515del (p.Phe505fs)
|
rs1060501529
|
|
|
NM_000051.4(ATM):c.1518C>A (p.Gly506=)
|
|
|
|
NM_000051.4(ATM):c.1518C>G (p.Gly506=)
|
rs864622528
|
|
|
NM_000051.4(ATM):c.1518C>T (p.Gly506=)
|
rs864622528
|
|
|
NM_000051.4(ATM):c.151C>T (p.Gln51Ter)
|
rs786203888
|
|
|
NM_000051.4(ATM):c.1520T>A (p.Leu507Ter)
|
rs2135325561
|
|
|
NM_000051.4(ATM):c.1521A>G (p.Leu507=)
|
rs2135325598
|
|
|
NM_000051.4(ATM):c.1524T>C (p.Leu508=)
|
rs559095379
|
|
|
NM_000051.4(ATM):c.1524del (p.Gly509fs)
|
rs786204737
|
|
|
NM_000051.4(ATM):c.1528_1529insTAAG (p.Ala510fs)
|
rs2080115075
|
|
|
NM_000051.4(ATM):c.1537C>T (p.Gln513Ter)
|
rs865985297
|
|
|
NM_000051.4(ATM):c.1542T>C (p.Gly514=)
|
rs572567674
|
|
|
NM_000051.4(ATM):c.1547T>A (p.Leu516Ter)
|
rs786202195
|
|
|
NM_000051.4(ATM):c.154G>T (p.Gly52Ter)
|
rs730881362
|
|
|
NM_000051.4(ATM):c.1550T>C (p.Val517Ala)
|
rs777986229
|
|
|
NM_000051.4(ATM):c.1552G>T (p.Glu518Ter)
|
|
|
|
NM_000051.4(ATM):c.1556T>A (p.Val519Asp)
|
|
|
|
NM_000051.4(ATM):c.1560C>T (p.Asp520=)
|
rs1591524777
|
|
|
NM_000051.4(ATM):c.1561A>C (p.Arg521=)
|
rs2080118357
|
|
|
NM_000051.4(ATM):c.1561A>G (p.Arg521Gly)
|
rs2080118357
|
|
|
NM_000051.4(ATM):c.1564G>T (p.Glu522Ter)
|
rs2080118610
|
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
|
NM_000051.4(ATM):c.1569C>T (p.Phe523=)
|
|
|
|
NM_000051.4(ATM):c.156A>C (p.Gly52=)
|
rs876660725
|
|
|
NM_000051.4(ATM):c.1572G>A (p.Trp524Ter)
|
|
|
|
NM_000051.4(ATM):c.1573A>T (p.Lys525Ter)
|
rs1565383766
|
|
|
NM_000051.4(ATM):c.1573_1586del (p.Lys525fs)
|
|
|
|
NM_000051.4(ATM):c.1575G>C (p.Lys525Asn)
|
rs587780613
|
|
|
NM_000051.4(ATM):c.1578A>G (p.Leu526=)
|
rs1591524857
|
|
|
NM_000051.4(ATM):c.157A>C (p.Lys53Gln)
|
rs876659078
|
|
|
NM_000051.4(ATM):c.157A>T (p.Lys53Ter)
|
rs876659078
|
|
|
NM_000051.4(ATM):c.1581T>C (p.Phe527=)
|
rs1555071227
|
|
|
NM_000051.4(ATM):c.1584T>C (p.Thr528=)
|
rs864622408
|
|
|
NM_000051.4(ATM):c.1589C>G (p.Ser530Ter)
|
|
|
|
NM_000051.4(ATM):c.1590A>G (p.Ser530=)
|
rs2135327907
|
|
|
NM_000051.4(ATM):c.1597_1600dup (p.Pro534fs)
|
rs1131691166
|
|
|
NM_000051.4(ATM):c.1599A>G (p.Arg533=)
|
rs1555071269
|
|
|
NM_000051.4(ATM):c.159A>G (p.Lys53=)
|
rs1060504281
|
|
|
NM_000051.4(ATM):c.15del (p.Asn6fs)
|
|
|
|
NM_000051.4(ATM):c.15dup (p.Asn6Ter)
|
rs876660842
|
|
|
NM_000051.4(ATM):c.1601C>G (p.Pro534Arg)
|
rs587782212
|
|
|
NM_000051.4(ATM):c.1602T>C (p.Pro534=)
|
rs1555071275
|
|
|
NM_000051.4(ATM):c.1605A>G (p.Ser535=)
|
rs1060504290
|
|
|
NM_000051.4(ATM):c.1605A>T (p.Ser535=)
|
rs1060504290
|
|
|
NM_000051.4(ATM):c.1607+10G>A
|
rs1555071298
|
|
|
NM_000051.4(ATM):c.1607+10G>C
|
rs1555071298
|
|
|
NM_000051.4(ATM):c.1607+162A>G
|
|
|
|
NM_000051.4(ATM):c.1607+1G>A
|
rs772926890
|
|
|
NM_000051.4(ATM):c.1607+2T>A
|
|
|
|
NM_000051.4(ATM):c.1607+8C>G
|
|
|
|
NM_000051.4(ATM):c.1607+8_1607+23delinsT
|
|
|
|
NM_000051.4(ATM):c.1607+9_1607+11delinsTGA
|
|
|
|
NM_000051.4(ATM):c.1608-11T>C
|
|
|
|
NM_000051.4(ATM):c.1608-13T>C
|
|
|
|
NM_000051.4(ATM):c.1608-15T>C
|
|
|
|
NM_000051.4(ATM):c.1608-17C>T
|
|
|
|
NM_000051.4(ATM):c.1608-18T>C
|
|
|
|
NM_000051.4(ATM):c.1608-20T>C
|
|
|
|
NM_000051.4(ATM):c.1608-22_1608-20delinsTTC
|
|
|
|
NM_000051.4(ATM):c.1608-4A>G
|
rs2080162473
|
|
|
NM_000051.4(ATM):c.1608-7G>A
|
rs1555071656
|
|
|
NM_000051.4(ATM):c.1608-8del
|
rs1064794419
|
|
|
NM_000051.4(ATM):c.160del (p.Tyr54fs)
|
|
|
|
NM_000051.4(ATM):c.1611T>C (p.Pro537=)
|
rs2135338657
|
|
|
NM_000051.4(ATM):c.1611T>G (p.Pro537=)
|
|
|
|
NM_000051.4(ATM):c.1617A>G (p.Val539=)
|
rs1060504300
|
|
|
NM_000051.4(ATM):c.1617dup (p.Cys540fs)
|
|
|
|
NM_000051.4(ATM):c.1620C>T (p.Cys540=)
|
rs1555071676
|
|
|
NM_000051.4(ATM):c.1621dup (p.Cys541fs)
|
|
|
|
NM_000051.4(ATM):c.1622G>A (p.Cys541Tyr)
|
rs1555071682
|
|
|
NM_000051.4(ATM):c.1623T>C (p.Cys541=)
|
|
|
|
NM_000051.4(ATM):c.1625del (p.Cys541_Leu542insTer)
|
rs2080164484
|
|
|
NM_000051.4(ATM):c.1626G>A (p.Leu542=)
|
|
|
|
NM_000051.4(ATM):c.1632G>A (p.Leu544=)
|
|
|
|
NM_000051.4(ATM):c.1636C>T (p.Leu546=)
|
rs2227924
|
|
|
NM_000051.4(ATM):c.1641C>T (p.Thr547=)
|
|
|
|
NM_000051.4(ATM):c.164T>G (p.Leu55Trp)
|
rs1565344888
|
|
|
NM_000051.4(ATM):c.164del (p.Tyr54_Leu55insTer)
|
|
|
|
NM_000051.4(ATM):c.1651G>T (p.Val551Phe)
|
rs1555071742
|
|
|
NM_000051.4(ATM):c.1653del (p.Pro552fs)
|
rs2080167483
|
|
|
NM_000051.4(ATM):c.1655del (p.Pro552fs)
|
rs1057516876
|
|
|
NM_000051.4(ATM):c.1657G>A (p.Gly553Arg)
|
rs1591527438
|
|
|
NM_000051.4(ATM):c.1658del (p.Gly553fs)
|
rs1064796556
|
|
|
NM_000051.4(ATM):c.1660A>C (p.Thr554Pro)
|
rs1060788
|
|
|
NM_000051.4(ATM):c.1660del (p.Thr554fs)
|
rs876658572
|
|
|
NM_000051.4(ATM):c.1662G>C (p.Thr554=)
|
rs764646531
|
|
|
NM_000051.4(ATM):c.1665A>G (p.Val555=)
|
rs754367168
|
|
|
NM_000051.4(ATM):c.1680G>A (p.Glu560=)
|
rs1555071815
|
|
|
NM_000051.4(ATM):c.1683A>G (p.Gln561=)
|
rs876660110
|
|
|
NM_000051.4(ATM):c.1688_1695del (p.Met563fs)
|
|
|
|
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter)
|
rs886039644
|
|
|
NM_000051.4(ATM):c.1698A>G (p.Val566=)
|
rs2135341613
|
|
|
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser)
|
rs786203230
|
|
|
NM_000051.4(ATM):c.1701T>C (p.Asn567=)
|
rs878853487
|
|
|
NM_000051.4(ATM):c.1703G>A (p.Arg568Lys)
|
rs200381392
|
|
|
NM_000051.4(ATM):c.1704A>C (p.Arg568Ser)
|
rs878853488
|
|
|
NM_000051.4(ATM):c.1718del (p.Lys573fs)
|
|
|
|
NM_000051.4(ATM):c.1719G>A (p.Lys573=)
|
|
|
|
NM_000051.4(ATM):c.1722A>G (p.Glu574=)
|
rs372334891
|
|
|
NM_000051.4(ATM):c.1725A>G (p.Ser575=)
|
|
|
|
NM_000051.4(ATM):c.172G>A (p.Asp58Asn)
|
rs876660661
|
|
|
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr)
|
rs876660661
|
|
|
NM_000051.4(ATM):c.1734A>G (p.Lys578=)
|
rs1555071939
|
|
|
NM_000051.4(ATM):c.1736G>A (p.Trp579Ter)
|
|
|
|
NM_000051.4(ATM):c.1737G>A (p.Trp579Ter)
|
rs786201689
|
|
|
NM_000051.4(ATM):c.1739T>C (p.Leu580Pro)
|
rs890554688
|
|
|
NM_000051.4(ATM):c.1740C>G (p.Leu580=)
|
rs1060504269
|
|
|
NM_000051.4(ATM):c.1740C>T (p.Leu580=)
|
rs1060504269
|
|
|
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs)
|
rs1057516721
|
|
|
NM_000051.4(ATM):c.1743A>G (p.Leu581=)
|
|
|
|
NM_000051.4(ATM):c.1745_1749del (p.Phe582fs)
|
rs1565385883
|
|
|
NM_000051.4(ATM):c.1746C>G (p.Phe582Leu)
|
rs145629926
|
|
|
NM_000051.4(ATM):c.1749T>C (p.Tyr583=)
|
|
|
|
NM_000051.4(ATM):c.1749_1750delinsAT (p.Tyr583_Gln584delinsTer)
|
rs1064796083
|
|
|
NM_000051.4(ATM):c.1750C>T (p.Gln584Ter)
|
rs2080176523
|
|
|
NM_000051.4(ATM):c.1752G>A (p.Gln584=)
|
rs2135343108
|
|
|
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs)
|
rs1555072008
|
|
|
NM_000051.4(ATM):c.1756G>C (p.Glu586Gln)
|
rs1565386004
|
|
|
NM_000051.4(ATM):c.1757del (p.Glu586fs)
|
|
|
|
NM_000051.4(ATM):c.1758G>T (p.Glu586Asp)
|
rs1555072017
|
|
|
NM_000051.4(ATM):c.1761T>C (p.Gly587=)
|
|
|
|
NM_000051.4(ATM):c.1762del (p.Asp588fs)
|
rs2135343498
|
|
|
NM_000051.4(ATM):c.1765T>C (p.Leu589=)
|
|
|
|
NM_000051.4(ATM):c.1766T>A (p.Leu589Ter)
|
|
|
|
NM_000051.4(ATM):c.1767A>G (p.Leu589=)
|
|
|
|
NM_000051.4(ATM):c.1772dup (p.Asn591fs)
|
rs1591528248
|
|
|
NM_000051.4(ATM):c.1774A>G (p.Ser592Gly)
|
rs1060501558
|
|
|
NM_000051.4(ATM):c.1775G>A (p.Ser592Asn)
|
rs776911505
|
|
|
NM_000051.4(ATM):c.1776C>T (p.Ser592=)
|
rs1057524304
|
|
|
NM_000051.4(ATM):c.1779A>G (p.Thr593=)
|
rs876660493
|
|
|
NM_000051.4(ATM):c.177T>C (p.Ala59=)
|
|
|
|
NM_000051.4(ATM):c.1782A>G (p.Glu594=)
|
rs876660494
|
|
|
NM_000051.4(ATM):c.1788T>C (p.Pro596=)
|
|
|
|
NM_000051.4(ATM):c.1790dup (p.Ile598fs)
|
|
|
|
NM_000051.4(ATM):c.1794T>C (p.Ile598=)
|
rs786201830
|
|
|
NM_000051.4(ATM):c.1799_1802+5del
|
rs781244480
|
|
|
NM_000051.4(ATM):c.1800C>T (p.His600=)
|
rs750715942
|
|
|
NM_000051.4(ATM):c.1801A>C (p.Ser601Arg)
|
|
|
|
NM_000051.4(ATM):c.1802+10G>T
|
|
|
|
NM_000051.4(ATM):c.1803-10T>C
|
rs1555072423
|
|
|
NM_000051.4(ATM):c.1803-15T>C
|
rs2080225396
|
|
|
NM_000051.4(ATM):c.1803-15dup
|
|
|
|
NM_000051.4(ATM):c.1803-16T>C
|
|
|
|
NM_000051.4(ATM):c.1803-1G>C
|
|
|
|
NM_000051.4(ATM):c.1803-1G>T
|
|
|
|
NM_000051.4(ATM):c.1803-27A>G
|
|
|
|
NM_000051.4(ATM):c.1803-2A>G
|
rs1057517358
|
|
|
NM_000051.4(ATM):c.1803-4G>A
|
rs876659300
|
|
|
NM_000051.4(ATM):c.1803-4G>T
|
|
|
|
NM_000051.4(ATM):c.1803-5T>C
|
rs786203034
|
|
|
NM_000051.4(ATM):c.1803-7T>C
|
rs2135352285
|
|
|
NM_000051.4(ATM):c.1809del (p.Pro604fs)
|
|
|
|
NM_000051.4(ATM):c.180T>G (p.Val60=)
|
rs786201375
|
|
|
NM_000051.4(ATM):c.1815T>C (p.His605=)
|
|
|
|
NM_000051.4(ATM):c.1821A>C (p.Val607=)
|
rs876660362
|
|
|
NM_000051.4(ATM):c.1825G>C (p.Glu609Gln)
|
rs779780896
|
|
|
NM_000051.4(ATM):c.1827G>A (p.Glu609=)
|
rs1555072460
|
|
|
NM_000051.4(ATM):c.1830A>G (p.Lys610=)
|
|
|
|
NM_000051.4(ATM):c.1834C>T (p.Leu612Phe)
|
rs747242300
|
|
|
NM_000051.4(ATM):c.1836T>A (p.Leu612=)
|
rs1309539769
|
|
|
NM_000051.4(ATM):c.1838dup (p.Ser614fs)
|
rs1555072492
|
|
|
NM_000051.4(ATM):c.183del (p.Phe61fs)
|
rs2135014976
|
|
|
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)
|
rs786203783
|
|
|
NM_000051.4(ATM):c.1845C>G (p.Leu615=)
|
|
|
|
NM_000051.4(ATM):c.1845C>T (p.Leu615=)
|
rs1349398596
|
|
|
NM_000051.4(ATM):c.1848T>C (p.Thr616=)
|
rs1045549048
|
|
|
NM_000051.4(ATM):c.1849A>G (p.Met617Val)
|
rs1555072530
|
|
|
NM_000051.4(ATM):c.185+10T>G
|
rs1555054317
|
|
|
NM_000051.4(ATM):c.185+1G>A
|
rs112805604
|
|
|
NM_000051.4(ATM):c.185+1del
|
rs2078826294
|
|
|
NM_000051.4(ATM):c.185+6C>T
|
rs1555054299
|
|
|
NM_000051.4(ATM):c.185+9T>G
|
|
|
|
NM_000051.4(ATM):c.1858T>C (p.Cys620Arg)
|
rs2080230578
|
|
|
NM_000051.4(ATM):c.1858del (p.Cys620fs)
|
rs1565387848
|
|
|
NM_000051.4(ATM):c.1859G>A (p.Cys620Tyr)
|
|
|
|
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer)
|
rs2080230745
|
|
|
NM_000051.4(ATM):c.186-10T>C
|
rs773957101
|
|
|
NM_000051.4(ATM):c.186-18C>T
|
rs1410616583
|
|
|
NM_000051.4(ATM):c.186-1_197del
|
|
|
|
NM_000051.4(ATM):c.186-8del
|
rs1555055031
|
|
|
NM_000051.4(ATM):c.1869A>G (p.Ala623=)
|
rs1591531055
|
|
|
NM_000051.4(ATM):c.1877_1880del (p.Phe626fs)
|
|
|
|
NM_000051.4(ATM):c.1880del (p.Phe627fs)
|
|
|
|
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.1882del (p.Gln628fs)
|
|
|
|
NM_000051.4(ATM):c.1888del (p.Val630fs)
|
|
|
|
NM_000051.4(ATM):c.1890G>T (p.Val630=)
|
rs1555072586
|
|
|
NM_000051.4(ATM):c.1894G>T (p.Glu632Ter)
|
|
|
|
NM_000051.4(ATM):c.1898+10C>G
|
rs199570442
|
|
|
NM_000051.4(ATM):c.1898+10C>T
|
|
|
|
NM_000051.4(ATM):c.1898+1G>A
|
rs758325274
|
|
|
NM_000051.4(ATM):c.1898+1G>T
|
rs758325274
|
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
|
NM_000051.4(ATM):c.1898+8A>G
|
|
|
|
NM_000051.4(ATM):c.1899-12A>T
|
|
|
|
NM_000051.4(ATM):c.1899-14T>C
|
rs2135365137
|
|
|
NM_000051.4(ATM):c.1899-16T>C
|
|
|
|
NM_000051.4(ATM):c.1899-17A>G
|
rs2135365023
|
|
|
NM_000051.4(ATM):c.1899-17A>T
|
|
|
|
NM_000051.4(ATM):c.1899-1G>A
|
rs1555073065
|
|
|
NM_000051.4(ATM):c.1899-23_1899-16delinsGGTA
|
|
|
|
NM_000051.4(ATM):c.1899-2A>C
|
|
|
|
NM_000051.4(ATM):c.1899-5T>C
|
rs1591533679
|
|
|
NM_000051.4(ATM):c.1899-7C>T
|
rs1060501584
|
|
|
NM_000051.4(ATM):c.1899-8T>A
|
|
|
|
NM_000051.4(ATM):c.1899-8T>C
|
|
|
|
NM_000051.4(ATM):c.1899-8dup
|
|
|
|
NM_000051.4(ATM):c.1899-9T>C
|
|
|
|
NM_000051.4(ATM):c.189T>C (p.Phe63=)
|
rs926466183
|
|
|
NM_000051.4(ATM):c.1901A>T (p.Glu634Val)
|
rs1555073069
|
|
|
NM_000051.4(ATM):c.1902A>G (p.Glu634=)
|
rs1060501633
|
|
|
NM_000051.4(ATM):c.1903del (p.His635fs)
|
|
|
|
NM_000051.4(ATM):c.1904_1905del (p.His635fs)
|
|
|
|
NM_000051.4(ATM):c.1905_1910del (p.His635_His636del)
|
rs587781635
|
|
|
NM_000051.4(ATM):c.1914_1916delinsGG (p.Asp639fs)
|
|
|
|
NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer)
|
rs864622415
|
|
|
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter)
|
rs879254190
|
|
|
NM_000051.4(ATM):c.1919_1921delinsT (p.Lys640fs)
|
|
|
|
NM_000051.4(ATM):c.191del (p.Leu64fs)
|
|
|
|
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs)
|
rs1555073111
|
|
|
NM_000051.4(ATM):c.1920del (p.Glu641fs)
|
|
|
|
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del)
|
rs876659575
|
|
|
NM_000051.4(ATM):c.1923A>G (p.Glu641=)
|
rs2135366297
|
|
|
NM_000051.4(ATM):c.1924delinsCT (p.Glu642fs)
|
|
|
|
NM_000051.4(ATM):c.1926A>G (p.Glu642=)
|
rs786201469
|
|
|
NM_000051.4(ATM):c.1927C>G (p.Leu643Val)
|
rs1565389730
|
|
|
NM_000051.4(ATM):c.1929T>A (p.Leu643=)
|
rs876659911
|
|
|
NM_000051.4(ATM):c.192del (p.Leu64fs)
|
rs878853490
|
|
|
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)
|
rs768362387
|
|
|
NM_000051.4(ATM):c.1932A>G (p.Ser644=)
|
|
|
|
NM_000051.4(ATM):c.1935C>T (p.Phe645=)
|
rs876659709
|
|
|
NM_000051.4(ATM):c.1935del (p.Ser646fs)
|
|
|
|
NM_000051.4(ATM):c.1938A>G (p.Ser646=)
|
rs1376318521
|
|
|
NM_000051.4(ATM):c.1939G>T (p.Glu647Ter)
|
rs1060501599
|
|
|
NM_000051.4(ATM):c.193C>T (p.Gln65Ter)
|
rs775248597
|
|
|
NM_000051.4(ATM):c.1944A>G (p.Val648=)
|
rs1555073161
|
|
|
NM_000051.4(ATM):c.1945GAA[1] (p.Glu650del)
|
rs1555073166
|
|
|
NM_000051.4(ATM):c.1951C>T (p.Leu651=)
|
rs1057521751
|
|
|
NM_000051.4(ATM):c.1954T>C (p.Phe652Leu)
|
rs1565389902
|
|
|
NM_000051.4(ATM):c.1956del (p.Leu653fs)
|
|
|
|
NM_000051.4(ATM):c.1968T>C (p.Thr656=)
|
rs1317185205
|
|
|
NM_000051.4(ATM):c.1968T>G (p.Thr656=)
|
rs1317185205
|
|
|
NM_000051.4(ATM):c.1971T>C (p.Phe657=)
|
|
|
|
NM_000051.4(ATM):c.1972G>A (p.Asp658Asn)
|
rs1343017824
|
|
|
NM_000051.4(ATM):c.1972G>C (p.Asp658His)
|
rs1343017824
|
|
|
NM_000051.4(ATM):c.1977G>A (p.Lys659=)
|
rs1060501565
|
|
|
NM_000051.4(ATM):c.1978del (p.Met660fs)
|
|
|
|
NM_000051.4(ATM):c.1983C>T (p.Asp661=)
|
rs2080301965
|
|
|
NM_000051.4(ATM):c.1987T>C (p.Leu663=)
|
|
|
|
NM_000051.4(ATM):c.1988del (p.Phe662_Leu663insTer)
|
|
|
|
NM_000051.4(ATM):c.1989A>G (p.Leu663=)
|
rs786202748
|
|
|
NM_000051.4(ATM):c.198A>T (p.Lys66Asn)
|
rs540920248
|
|
|
NM_000051.4(ATM):c.1991C>T (p.Thr664Ile)
|
|
|
|
NM_000051.4(ATM):c.1992del (p.Ile665fs)
|
|
|
|
NM_000051.4(ATM):c.1993_1994del (p.Ile665fs)
|
|
|
|
NM_000051.4(ATM):c.1995T>A (p.Ile665=)
|
|
|
|
NM_000051.4(ATM):c.1998G>A (p.Val666=)
|
rs748380150
|
|
|
NM_000051.4(ATM):c.1998G>C (p.Val666=)
|
rs748380150
|
|
|
NM_000051.4(ATM):c.1998_2004del (p.Arg667fs)
|
|
|
|
NM_000051.4(ATM):c.19G>C (p.Asp7His)
|
rs2078806188
|
|
|
NM_000051.4(ATM):c.1A>C (p.Met1Leu)
|
rs730881359
|
|
|
NM_000051.4(ATM):c.1A>G (p.Met1Val)
|
rs730881359
|
|
|
NM_000051.4(ATM):c.1A>T (p.Met1Leu)
|
|
|
|
NM_000051.4(ATM):c.2007T>A (p.Cys669Ter)
|
|
|
|
NM_000051.4(ATM):c.2007T>C (p.Cys669=)
|
|
|
|
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys)
|
rs754033733
|
|
|
NM_000051.4(ATM):c.201T>C (p.Tyr67=)
|
rs1555055083
|
|
|
NM_000051.4(ATM):c.201_206del (p.Tyr67_Gln69delinsTer)
|
|
|
|
NM_000051.4(ATM):c.2023_2024del (p.Gln675fs)
|
|
|
|
NM_000051.4(ATM):c.2028C>T (p.Ser676=)
|
rs375196053
|
|
|
NM_000051.4(ATM):c.2031T>C (p.Ser677=)
|
rs1591534580
|
|
|
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr)
|
rs1485409783
|
|
|
NM_000051.4(ATM):c.2034T>C (p.Ile678=)
|
rs1013513956
|
|
|
NM_000051.4(ATM):c.2036_2038delinsTCCACCAGAA (p.Gly679fs)
|
|
|
|
NM_000051.4(ATM):c.2037C>T (p.Gly679=)
|
|
|
|
NM_000051.4(ATM):c.2042C>G (p.Ser681Cys)
|
rs1060501585
|
|
|
NM_000051.4(ATM):c.2043T>A (p.Ser681=)
|
rs746422877
|
|
|
NM_000051.4(ATM):c.2044G>T (p.Val682Phe)
|
rs2135369797
|
|
|
NM_000051.4(ATM):c.2044_2045del (p.Val682fs)
|
|
|
|
NM_000051.4(ATM):c.2048A>T (p.His683Leu)
|
|
|
|
NM_000051.4(ATM):c.204T>C (p.Ile68=)
|
|
|
|
NM_000051.4(ATM):c.2058C>G (p.Leu686=)
|
rs761397203
|
|
|
NM_000051.4(ATM):c.2058C>T (p.Leu686=)
|
rs761397203
|
|
|
NM_000051.4(ATM):c.2061G>A (p.Lys687=)
|
|
|
|
NM_000051.4(ATM):c.2062G>T (p.Glu688Ter)
|
rs769338089
|
|
|
NM_000051.4(ATM):c.2064A>G (p.Glu688=)
|
rs772739433
|
|
|
NM_000051.4(ATM):c.2066C>G (p.Ser689Ter)
|
|
|
|
NM_000051.4(ATM):c.2067A>G (p.Ser689=)
|
rs1555073434
|
|
|
NM_000051.4(ATM):c.2068C>T (p.Leu690=)
|
rs1555073437
|
|
|
NM_000051.4(ATM):c.2075G>T (p.Arg692Leu)
|
rs751515818
|
|
|
NM_000051.4(ATM):c.2082T>G (p.Leu694=)
|
|
|
|
NM_000051.4(ATM):c.2082del (p.Leu695fs)
|
|
|
|
NM_000051.4(ATM):c.2083C>T (p.Leu695=)
|
|
|
|
NM_000051.4(ATM):c.2088A>T (p.Gly696=)
|
rs1555073469
|
|
|
NM_000051.4(ATM):c.2090T>G (p.Leu697Ter)
|
rs1591534936
|
|
|
NM_000051.4(ATM):c.2091del (p.Leu697fs)
|
|
|
|
NM_000051.4(ATM):c.2094A>C (p.Ser698=)
|
rs1344336370
|
|
|
NM_000051.4(ATM):c.2095G>C (p.Glu699Gln)
|
rs1060501539
|
|
|
NM_000051.4(ATM):c.2097A>G (p.Glu699=)
|
rs777887012
|
|
|
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter)
|
rs786202743
|
|
|
NM_000051.4(ATM):c.2101C>T (p.Leu701Phe)
|
|
|
|
NM_000051.4(ATM):c.2101del (p.Leu701fs)
|
|
|
|
NM_000051.4(ATM):c.2104C>T (p.Leu702=)
|
rs1555073490
|
|
|
NM_000051.4(ATM):c.210A>G (p.Lys70=)
|
rs1064793030
|
|
|
NM_000051.4(ATM):c.2113del (p.Tyr705fs)
|
rs863224822
|
|
|
NM_000051.4(ATM):c.2114dup (p.Tyr705Ter)
|
rs2080317430
|
|
|
NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter)
|
rs876659149
|
|
|
NM_000051.4(ATM):c.2117C>A (p.Ser706Ter)
|
|
|
|
NM_000051.4(ATM):c.2117C>G (p.Ser706Ter)
|
|
|
|
NM_000051.4(ATM):c.2118A>C (p.Ser706=)
|
|
|
|
NM_000051.4(ATM):c.2124+1G>A
|
rs1555073553
|
|
|
NM_000051.4(ATM):c.2124+1G>T
|
rs1555073553
|
|
|
NM_000051.4(ATM):c.2124+1del
|
rs2080318979
|
|
|
NM_000051.4(ATM):c.2124+3G>A
|
|
|
|
NM_000051.4(ATM):c.2124+7T>C
|
|
|
|
NM_000051.4(ATM):c.2125-11T>C
|
|
|
|
NM_000051.4(ATM):c.2125-12G>A
|
rs2135391706
|
|
|
NM_000051.4(ATM):c.2125-12del
|
rs1555074807
|
|
|
NM_000051.4(ATM):c.2125-13G>C
|
|
|
|
NM_000051.4(ATM):c.2125-13G>T
|
|
|
|
NM_000051.4(ATM):c.2125-14T>C
|
|
|
|
NM_000051.4(ATM):c.2125-15G>A
|
|
|
|
NM_000051.4(ATM):c.2125-15G>T
|
|
|
|
NM_000051.4(ATM):c.2125-16T>C
|
rs1057523016
|
|
|
NM_000051.4(ATM):c.2125-16_2128delinsCAAATTTATATT
|
|
|
|
NM_000051.4(ATM):c.2125-17T>C
|
rs1373576656
|
|
|
NM_000051.4(ATM):c.2125-18T>C
|
|
|
|
NM_000051.4(ATM):c.2125-19A>C
|
rs2080469665
|
|
|
NM_000051.4(ATM):c.2125-1G>T
|
rs1402299151
|
|
|
NM_000051.4(ATM):c.2125-20dup
|
|
|
|
NM_000051.4(ATM):c.2125-2A>C
|
rs1565394403
|
|
|
NM_000051.4(ATM):c.2125-4T>C
|
rs1064795623
|
|
|
NM_000051.4(ATM):c.2125-4dup
|
rs2135391852
|
|
|
NM_000051.4(ATM):c.2135C>A (p.Ser712Ter)
|
|
|
|
NM_000051.4(ATM):c.2136del (p.Glu713fs)
|
|
|
|
NM_000051.4(ATM):c.2139A>G (p.Glu713=)
|
rs2080473610
|
|
|
NM_000051.4(ATM):c.2148C>G (p.Val716=)
|
rs1800701
|
|
|
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln)
|
rs768874297
|
|
|
NM_000051.4(ATM):c.2155_2174del (p.Ser719fs)
|
|
|
|
NM_000051.4(ATM):c.2157A>C (p.Ser719=)
|
|
|
|
NM_000051.4(ATM):c.2157A>G (p.Ser719=)
|
rs1591542014
|
|
|
NM_000051.4(ATM):c.2158C>T (p.Arg720Cys)
|
rs565622131
|
|
|
NM_000051.4(ATM):c.2163T>C (p.Leu721=)
|
rs1591542057
|
|
|
NM_000051.4(ATM):c.2165dup (p.Leu722fs)
|
rs1057516393
|
|
|
NM_000051.4(ATM):c.2169G>T (p.Val723=)
|
rs878853491
|
|
|
NM_000051.4(ATM):c.216A>G (p.Thr72=)
|
|
|
|
NM_000051.4(ATM):c.2172T>G (p.Gly724=)
|
rs1591542120
|
|
|
NM_000051.4(ATM):c.217_218del (p.Glu73fs)
|
rs762089971
|
|
|
NM_000051.4(ATM):c.2181C>G (p.Gly727=)
|
rs876658836
|
|
|
NM_000051.4(ATM):c.2184del (p.Tyr729fs)
|
|
|
|
NM_000051.4(ATM):c.2186A>C (p.Tyr729Ser)
|
|
|
|
NM_000051.4(ATM):c.2190T>C (p.Cys730=)
|
rs876659949
|
|
|
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter)
|
rs1478081526
|
|
|
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter)
|
rs2229019
|
|
|
NM_000051.4(ATM):c.2194A>G (p.Met732Val)
|
rs1415360560
|
|
|
NM_000051.4(ATM):c.2195T>C (p.Met732Thr)
|
|
|
|
NM_000051.4(ATM):c.2195dup (p.Met732fs)
|
rs1555074971
|
|
|
NM_000051.4(ATM):c.2199T>C (p.Gly733=)
|
rs1591542359
|
|
|
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer)
|
rs1555074976
|
|
|
NM_000051.4(ATM):c.2205A>C (p.Ile735=)
|
|
|
|
NM_000051.4(ATM):c.2209G>T (p.Glu737Ter)
|
|
|
|
NM_000051.4(ATM):c.2217A>G (p.Glu739=)
|
|
|
|
NM_000051.4(ATM):c.2218G>A (p.Ala740Thr)
|
rs786201866
|
|
|
NM_000051.4(ATM):c.2218del (p.Ala740fs)
|
|
|
|
NM_000051.4(ATM):c.221G>A (p.Cys74Tyr)
|
rs864622515
|
|
|
NM_000051.4(ATM):c.2220A>C (p.Ala740=)
|
|
|
|
NM_000051.4(ATM):c.2220A>T (p.Ala740=)
|
rs56353517
|
|
|
NM_000051.4(ATM):c.2223T>C (p.Tyr741=)
|
rs1057524111
|
|
|
NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter)
|
rs1057524111
|
|
|
NM_000051.4(ATM):c.2226G>A (p.Lys742=)
|
|
|
|
NM_000051.4(ATM):c.222_225del (p.Glu73_Cys74insTer)
|
|
|
|
NM_000051.4(ATM):c.2233T>C (p.Leu745=)
|
rs1293287271
|
|
|
NM_000051.4(ATM):c.2234T>G (p.Leu745Ter)
|
|
|
|
NM_000051.4(ATM):c.2235A>T (p.Leu745Phe)
|
|
|
|
NM_000051.4(ATM):c.2237del (p.Phe746fs)
|
|
|
|
NM_000051.4(ATM):c.2242A>G (p.Lys748Glu)
|
|
|
|
NM_000051.4(ATM):c.2250+1G>A
|
rs1565395193
|
|
|
NM_000051.4(ATM):c.2250+2T>C
|
rs1555075037
|
|
|
NM_000051.4(ATM):c.2250+4G>A
|
rs1565395217
|
|
|
NM_000051.4(ATM):c.2250+7G>A
|
rs752009031
|
|
|
NM_000051.4(ATM):c.2250+7G>T
|
rs752009031
|
|
|
NM_000051.4(ATM):c.2250+8A>T
|
rs1555075054
|
|
|
NM_000051.4(ATM):c.2250+9A>G
|
rs755569951
|
|
|
NM_000051.4(ATM):c.2251-13C>T
|
|
|
|
NM_000051.4(ATM):c.2251-18T>C
|
|
|
|
NM_000051.4(ATM):c.2251-18del
|
rs730881284
|
|
|
NM_000051.4(ATM):c.2251-18dup
|
rs730881284
|
|
|
NM_000051.4(ATM):c.2251-1G>A
|
rs876659710
|
|
|
NM_000051.4(ATM):c.2251-1G>C
|
rs876659710
|
|
|
NM_000051.4(ATM):c.2251-2A>G
|
rs2135405559
|
|
|
NM_000051.4(ATM):c.2251-3T>C
|
rs752951518
|
|
|
NM_000051.4(ATM):c.2251-4A>G
|
rs786202935
|
|
|
NM_000051.4(ATM):c.2251-5A>T
|
|
|
|
NM_000051.4(ATM):c.2251-6C>T
|
rs1555075617
|
|
|
NM_000051.4(ATM):c.2254C>G (p.Leu752Val)
|
rs756522395
|
|
|
NM_000051.4(ATM):c.2254C>T (p.Leu752=)
|
rs756522395
|
|
|
NM_000051.4(ATM):c.2255T>C (p.Leu752Pro)
|
rs2135405669
|
|
|
NM_000051.4(ATM):c.2256A>G (p.Leu752=)
|
|
|
|
NM_000051.4(ATM):c.225G>A (p.Leu75=)
|
rs1060504306
|
|
|
NM_000051.4(ATM):c.2262del (p.Gln754fs)
|
rs2080573967
|
|
|
NM_000051.4(ATM):c.2264G>A (p.Cys755Tyr)
|
rs876660916
|
|
|
NM_000051.4(ATM):c.2268A>G (p.Ala756=)
|
rs1057522845
|
|
|
NM_000051.4(ATM):c.226A>C (p.Arg76=)
|
|
|
|
NM_000051.4(ATM):c.2270G>T (p.Gly757Val)
|
rs375091571
|
|
|
NM_000051.4(ATM):c.2276G>A (p.Ser759Asn)
|
rs786202270
|
|
|
NM_000051.4(ATM):c.2282C>G (p.Thr761Ser)
|
|
|
|
NM_000051.4(ATM):c.2284C>T (p.Leu762=)
|
rs876659401
|
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
|
NM_000051.4(ATM):c.2286G>T (p.Leu762=)
|
|
|
|
NM_000051.4(ATM):c.2289del (p.Phe763fs)
|
|
|
|
NM_000051.4(ATM):c.228A>G (p.Arg76=)
|
rs1591451698
|
|
|
NM_000051.4(ATM):c.2295T>C (p.Asn765=)
|
rs1444950103
|
|
|
NM_000051.4(ATM):c.2295del (p.Asn765fs)
|
rs876658583
|
|
|
NM_000051.4(ATM):c.2298G>A (p.Lys766=)
|
|
|
|
NM_000051.4(ATM):c.229dup (p.Ile77fs)
|
rs1565346867
|
|
|
NM_000051.4(ATM):c.22C>T (p.Leu8=)
|
rs2135004594
|
|
|
NM_000051.4(ATM):c.2301_2304del (p.Asn768fs)
|
rs1565397179
|
|
|
NM_000051.4(ATM):c.2304_2305insTT (p.Glu769fs)
|
rs2080577927
|
|
|
NM_000051.4(ATM):c.2313C>T (p.Phe771=)
|
|
|
|
NM_000051.4(ATM):c.2314del (p.Arg772fs)
|
|
|
|
NM_000051.4(ATM):c.2326T>C (p.Leu776=)
|
rs762937809
|
|
|
NM_000051.4(ATM):c.2341C>T (p.Gln781Ter)
|
rs1555075781
|
|
|
NM_000051.4(ATM):c.2343G>A (p.Gln781=)
|
rs2135407606
|
|
|
NM_000051.4(ATM):c.234A>G (p.Ala78=)
|
rs1555055145
|
|
|
NM_000051.4(ATM):c.2352A>T (p.Thr784=)
|
rs759679953
|
|
|
NM_000051.4(ATM):c.2352_2353del (p.Arg785fs)
|
|
|
|
NM_000051.4(ATM):c.2355T>C (p.Arg785=)
|
rs1555075801
|
|
|
NM_000051.4(ATM):c.2358C>T (p.Cys786=)
|
|
|
|
NM_000051.4(ATM):c.2360T>A (p.Leu787Ter)
|
|
|
|
NM_000051.4(ATM):c.2360del (p.Cys786_Leu787insTer)
|
|
|
|
NM_000051.4(ATM):c.2363G>A (p.Ser788Asn)
|
rs1555075809
|
|
|
NM_000051.4(ATM):c.2364C>G (p.Ser788Arg)
|
rs2135408164
|
|
|
NM_000051.4(ATM):c.2366A>G (p.Asn789Ser)
|
rs1591546766
|
|
|
NM_000051.4(ATM):c.2367C>T (p.Asn789=)
|
rs2080585059
|
|
|
NM_000051.4(ATM):c.2372C>T (p.Thr791Ile)
|
rs2135408339
|
|
|
NM_000051.4(ATM):c.2376+10T>C
|
|
|
|
NM_000051.4(ATM):c.2376+158C>T
|
|
|
|
NM_000051.4(ATM):c.2376+1G>A
|
rs730881347
|
|
|
NM_000051.4(ATM):c.2376+1G>C
|
rs730881347
|
|
|
NM_000051.4(ATM):c.2376+7T>C
|
|
|
|
NM_000051.4(ATM):c.2376_2376+1delinsTT
|
|
|
|
NM_000051.4(ATM):c.2377-10T>C
|
|
|
|
NM_000051.4(ATM):c.2377-11C>T
|
|
|
|
NM_000051.4(ATM):c.2377-14del
|
|
|
|
NM_000051.4(ATM):c.2377-15T>C
|
rs2080690965
|
|
|
NM_000051.4(ATM):c.2377-15_2377-12del
|
rs730881298
|
|
|
NM_000051.4(ATM):c.2377-17G>A
|
|
|
|
NM_000051.4(ATM):c.2377-17G>C
|
rs192105604
|
|
|
NM_000051.4(ATM):c.2377-19T>C
|
|
|
|
NM_000051.4(ATM):c.2377-20_2377-18del
|
rs2080689774
|
|
|
NM_000051.4(ATM):c.2377-2A>G
|
rs1057516553
|
|
|
NM_000051.4(ATM):c.2377-5T>C
|
rs754206007
|
|
|
NM_000051.4(ATM):c.2377-6T>A
|
rs876660963
|
|
|
NM_000051.4(ATM):c.2377-7A>G
|
rs2080691600
|
|
|
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs)
|
rs1057516980
|
|
|
NM_000051.4(ATM):c.2379del (p.Ser794fs)
|
|
|
|
NM_000051.4(ATM):c.237del (p.Lys79fs)
|
rs730881303
|
|
|
NM_000051.4(ATM):c.2380A>T (p.Ser794Cys)
|
rs876658149
|
|
|
NM_000051.4(ATM):c.2383C>A (p.Pro795Thr)
|
|
|
|
NM_000051.4(ATM):c.2383C>T (p.Pro795Ser)
|
rs1060501651
|
|
|
NM_000051.4(ATM):c.2384C>G (p.Pro795Arg)
|
|
|
|
NM_000051.4(ATM):c.2385A>G (p.Pro795=)
|
rs2135420750
|
|
|
NM_000051.4(ATM):c.2386A>C (p.Asn796His)
|
rs201793499
|
|
|
NM_000051.4(ATM):c.2386A>T (p.Asn796Tyr)
|
rs201793499
|
|
|
NM_000051.4(ATM):c.2388_2389dup (p.Lys797fs)
|
|
|
|
NM_000051.4(ATM):c.2391G>A (p.Lys797=)
|
|
|
|
NM_000051.4(ATM):c.2394T>C (p.Ile798=)
|
rs876659882
|
|
|
NM_000051.4(ATM):c.2397A>G (p.Ala799=)
|
rs1060504279
|
|
|
NM_000051.4(ATM):c.2397A>T (p.Ala799=)
|
rs1060504279
|
|
|
NM_000051.4(ATM):c.2403C>A (p.Gly801=)
|
rs1264455310
|
|
|
NM_000051.4(ATM):c.2403C>T (p.Gly801=)
|
rs1264455310
|
|
|
NM_000051.4(ATM):c.2406T>C (p.Phe802=)
|
rs1472760933
|
|
|
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs)
|
rs2135421164
|
|
|
NM_000051.4(ATM):c.2408_2409inv (p.Phe803Ter)
|
|
|
|
NM_000051.4(ATM):c.2409C>T (p.Phe803=)
|
rs1416444032
|
|
|
NM_000051.4(ATM):c.2410C>T (p.Leu804=)
|
rs1591551341
|
|
|
NM_000051.4(ATM):c.2413C>A (p.Arg805=)
|
|
|
|
NM_000051.4(ATM):c.2418G>A (p.Leu806=)
|
rs587781296
|
|
|
NM_000051.4(ATM):c.2424A>G (p.Thr808=)
|
rs1555076671
|
|
|
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)
|
rs730881348
|
|
|
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
|
|
|
|
NM_000051.4(ATM):c.2426C>T (p.Ser809Leu)
|
rs730881348
|
|
|
NM_000051.4(ATM):c.2427A>G (p.Ser809=)
|
rs1591551435
|
|
|
NM_000051.4(ATM):c.2429dup (p.Leu811fs)
|
|
|
|
NM_000051.4(ATM):c.242del (p.Asn81fs)
|
|
|
|
NM_000051.4(ATM):c.2431C>T (p.Leu811=)
|
rs2135421739
|
|
|
NM_000051.4(ATM):c.2433A>G (p.Leu811=)
|
|
|
|
NM_000051.4(ATM):c.2436G>A (p.Met812Ile)
|
rs876658688
|
|
|
NM_000051.4(ATM):c.243T>C (p.Asn81=)
|
rs1591451819
|
|
|
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)
|
rs3218695
|
|
|
NM_000051.4(ATM):c.2442C>T (p.Asp814=)
|
rs3218695
|
|
|
NM_000051.4(ATM):c.2443A>G (p.Ile815Val)
|
rs746090916
|
|
|
NM_000051.4(ATM):c.2446_2447delinsCT (p.Ala816Leu)
|
rs587781956
|
|
|
NM_000051.4(ATM):c.2454T>A (p.Ile818=)
|
|
|
|
NM_000051.4(ATM):c.2454T>C (p.Ile818=)
|
|
|
|
NM_000051.4(ATM):c.2456del (p.Cys819fs)
|
rs2135422280
|
|
|
NM_000051.4(ATM):c.2463T>C (p.Ser821=)
|
|
|
|
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg)
|
rs864622412
|
|
|
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter)
|
rs1442299125
|
|
|
NM_000051.4(ATM):c.2465T>G (p.Leu822Ter)
|
rs1442299125
|
|
|
NM_000051.4(ATM):c.2466+10C>A
|
rs759158068
|
|
|
NM_000051.4(ATM):c.2466+10C>T
|
rs759158068
|
|
|
NM_000051.4(ATM):c.2466+10_2466+16del
|
|
|
|
NM_000051.4(ATM):c.2466+1G>A
|
rs914092098
|
|
|
NM_000051.4(ATM):c.2466+1del
|
rs786202783
|
|
|
NM_000051.4(ATM):c.2466+2T>C
|
|
|
|
NM_000051.4(ATM):c.2466+8T>A
|
rs765619483
|
|
|
NM_000051.4(ATM):c.2466+8T>C
|
rs765619483
|
|
|
NM_000051.4(ATM):c.2466+9G>T
|
rs2135422617
|
|
|
NM_000051.4(ATM):c.2467-11C>T
|
rs1267435091
|
|
|
NM_000051.4(ATM):c.2467-12T>C
|
rs1469467036
|
|
|
NM_000051.4(ATM):c.2467-1G>A
|
rs1328985852
|
|
|
NM_000051.4(ATM):c.2467-27_2467-19del
|
|
|
|
NM_000051.4(ATM):c.2467-4del
|
|
|
|
NM_000051.4(ATM):c.2467-5T>C
|
|
|
|
NM_000051.4(ATM):c.2467-7del
|
|
|
|
NM_000051.4(ATM):c.2467-8C>T
|
rs1425701157
|
|
|
NM_000051.4(ATM):c.2467-8_2467-7delinsTT
|
|
|
|
NM_000051.4(ATM):c.2469A>G (p.Ala823=)
|
|
|
|
NM_000051.4(ATM):c.246A>C (p.Val82=)
|
|
|
|
NM_000051.4(ATM):c.2472C>G (p.Ser824=)
|
rs786203289
|
|
|
NM_000051.4(ATM):c.2472C>T (p.Ser824=)
|
rs786203289
|
|
|
NM_000051.4(ATM):c.2481A>G (p.Lys827=)
|
rs2135505455
|
|
|
NM_000051.4(ATM):c.2483del (p.Lys828fs)
|
rs1064794234
|
|
|
NM_000051.4(ATM):c.2487A>G (p.Pro829=)
|
rs1330586139
|
|
|
NM_000051.4(ATM):c.248C>G (p.Ser83Ter)
|
|
|
|
NM_000051.4(ATM):c.2494C>G (p.Arg832Gly)
|
rs2229022
|
|
|
NM_000051.4(ATM):c.2497G>T (p.Gly833Ter)
|
rs876658804
|
|
|
NM_000051.4(ATM):c.2499A>C (p.Gly833=)
|
rs1060504263
|
|
|
NM_000051.4(ATM):c.2499A>G (p.Gly833=)
|
|
|
|
NM_000051.4(ATM):c.249A>C (p.Ser83=)
|
rs1591451851
|
|
|
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.2502dup (p.Val835fs)
|
rs587779822
|
|
|
NM_000051.4(ATM):c.2503del (p.Glu834_Val835insTer)
|
rs2081303007
|
|
|
NM_000051.4(ATM):c.2505A>G (p.Val835=)
|
rs1057523506
|
|
|
NM_000051.4(ATM):c.2508A>G (p.Glu836=)
|
rs2135506209
|
|
|
NM_000051.4(ATM):c.2510C>A (p.Ser837Ter)
|
|
|
|
NM_000051.4(ATM):c.2510C>G (p.Ser837Ter)
|
rs2081303434
|
|
|
NM_000051.4(ATM):c.2517A>G (p.Glu839=)
|
|
|
|
NM_000051.4(ATM):c.2520T>C (p.Asp840=)
|
rs1591587498
|
|
|
NM_000051.4(ATM):c.2521G>A (p.Asp841Asn)
|
|
|
|
NM_000051.4(ATM):c.2521del (p.Asp841fs)
|
rs1175457710
|
|
|
NM_000051.4(ATM):c.2523T>C (p.Asp841=)
|
rs758234872
|
|
|
NM_000051.4(ATM):c.2524dup (p.Thr842fs)
|
rs1555082160
|
|
|
NM_000051.4(ATM):c.2526T>C (p.Thr842=)
|
rs1565416272
|
|
|
NM_000051.4(ATM):c.2529T>C (p.Asn843=)
|
rs876660189
|
|
|
NM_000051.4(ATM):c.2530G>A (p.Gly844Arg)
|
|
|
|
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu)
|
rs587781808
|
|
|
NM_000051.4(ATM):c.2532A>C (p.Gly844=)
|
rs755261743
|
|
|
NM_000051.4(ATM):c.2534del (p.Asn845fs)
|
rs1591587673
|
|
|
NM_000051.4(ATM):c.2536_2537dup (p.Leu846_Met847insTer)
|
|
|
|
NM_000051.4(ATM):c.2538A>C (p.Leu846=)
|
rs567045160
|
|
|
NM_000051.4(ATM):c.2539A>G (p.Met847Val)
|
rs587779823
|
|
|
NM_000051.4(ATM):c.2544G>A (p.Glu848=)
|
rs1060501601
|
|
|
NM_000051.4(ATM):c.2545G>T (p.Val849Leu)
|
rs1591587875
|
|
|
NM_000051.4(ATM):c.2546T>C (p.Val849Ala)
|
rs1555082209
|
|
|
NM_000051.4(ATM):c.2547G>A (p.Val849=)
|
rs1060504262
|
|
|
NM_000051.4(ATM):c.2547G>C (p.Val849=)
|
|
|
|
NM_000051.4(ATM):c.2551del (p.Asp851fs)
|
|
|
|
NM_000051.4(ATM):c.2553T>G (p.Asp851Glu)
|
rs1064793513
|
|
|
NM_000051.4(ATM):c.2559A>G (p.Ser853=)
|
rs2081307609
|
|
|
NM_000051.4(ATM):c.2559A>T (p.Ser853=)
|
rs2081307609
|
|
|
NM_000051.4(ATM):c.2561_2564dup (p.Met855fs)
|
|
|
|
NM_000051.4(ATM):c.2564dup (p.Met855fs)
|
rs730881299
|
|
|
NM_000051.4(ATM):c.2568T>C (p.Asn856=)
|
|
|
|
NM_000051.4(ATM):c.2569C>G (p.Leu857Val)
|
rs876659486
|
|
|
NM_000051.4(ATM):c.2571A>C (p.Leu857=)
|
|
|
|
NM_000051.4(ATM):c.2571A>T (p.Leu857=)
|
rs1191404395
|
|
|
NM_000051.4(ATM):c.2574T>C (p.Phe858=)
|
|
|
|
NM_000051.4(ATM):c.2574dup (p.Asn859Ter)
|
rs587778068
|
|
|
NM_000051.4(ATM):c.2579A>T (p.Asp860Val)
|
rs761251711
|
|
|
NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter)
|
rs886039633
|
|
|
NM_000051.4(ATM):c.2585del (p.Pro862fs)
|
|
|
|
NM_000051.4(ATM):c.2586T>C (p.Pro862=)
|
rs2135508452
|
|
|
NM_000051.4(ATM):c.2586del (p.Asp863fs)
|
|
|
|
NM_000051.4(ATM):c.258A>G (p.Thr86=)
|
rs777434093
|
|
|
NM_000051.4(ATM):c.259C>T (p.Gln87Ter)
|
|
|
|
NM_000051.4(ATM):c.2605G>A (p.Ala869Thr)
|
|
|
|
NM_000051.4(ATM):c.2606C>T (p.Ala869Val)
|
rs145513717
|
|
|
NM_000051.4(ATM):c.2613dup (p.Pro872fs)
|
rs1591588646
|
|
|
NM_000051.4(ATM):c.2617G>T (p.Gly873Ter)
|
|
|
|
NM_000051.4(ATM):c.2620G>T (p.Glu874Ter)
|
rs1565416901
|
|
|
NM_000051.4(ATM):c.2623del (p.Ser875fs)
|
|
|
|
NM_000051.4(ATM):c.2625C>T (p.Ser875=)
|
rs1591588785
|
|
|
NM_000051.4(ATM):c.2627A>G (p.Gln876Arg)
|
rs1555082348
|
|
|
NM_000051.4(ATM):c.2628A>G (p.Gln876=)
|
rs1339119718
|
|
|
NM_000051.4(ATM):c.2634C>G (p.Thr878=)
|
rs771444818
|
|
|
NM_000051.4(ATM):c.2634C>T (p.Thr878=)
|
|
|
|
NM_000051.4(ATM):c.2636T>C (p.Ile879Thr)
|
rs746265230
|
|
|
NM_000051.4(ATM):c.2638+1G>T
|
rs2135509713
|
|
|
NM_000051.4(ATM):c.2638+1del
|
rs1131691153
|
|
|
NM_000051.4(ATM):c.2638+2T>C
|
rs587779826
|
|
|
NM_000051.4(ATM):c.2638+2T>G
|
rs587779826
|
|
|
NM_000051.4(ATM):c.2638+5A>G
|
rs2081314537
|
|
|
NM_000051.4(ATM):c.2638+7A>G
|
rs1555082379
|
|
|
NM_000051.4(ATM):c.2638+9A>C
|
rs761592414
|
|
|
NM_000051.4(ATM):c.2638+9A>T
|
rs761592414
|
|
|
NM_000051.4(ATM):c.2639-10T>C
|
|
|
|
NM_000051.4(ATM):c.2639-14C>T
|
|
|
|
NM_000051.4(ATM):c.2639-15G>T
|
|
|
|
NM_000051.4(ATM):c.2639-17G>A
|
|
|
|
NM_000051.4(ATM):c.2639-19G>C
|
|
|
|
NM_000051.4(ATM):c.2639-19_2639-7del
|
rs1591593439
|
|
|
NM_000051.4(ATM):c.2639-22_2639-20del
|
rs1064795554
|
|
|
NM_000051.4(ATM):c.2639-2A>C
|
|
|
|
NM_000051.4(ATM):c.2639-2A>G
|
rs1591593566
|
|
|
NM_000051.4(ATM):c.2639-2A>T
|
|
|
|
NM_000051.4(ATM):c.2639-384A>T
|
rs1131691154
|
|
|
NM_000051.4(ATM):c.2639-8A>G
|
rs779419160
|
|
|
NM_000051.4(ATM):c.2639-8del
|
rs2135522747
|
|
|
NM_000051.4(ATM):c.2643C>T (p.Ala881=)
|
|
|
|
NM_000051.4(ATM):c.2646T>C (p.Ile882=)
|
rs1591593585
|
|
|
NM_000051.4(ATM):c.264C>T (p.Ala88=)
|
rs1555055190
|
|
|
NM_000051.4(ATM):c.2650C>G (p.Pro884Ala)
|
rs1591593623
|
|
|
NM_000051.4(ATM):c.2653T>C (p.Leu885=)
|
|
|
|
NM_000051.4(ATM):c.2654T>A (p.Leu885Ter)
|
|
|
|
NM_000051.4(ATM):c.2654_2656delinsAA (p.Leu885_Ala886delinsTer)
|
rs1060501679
|
|
|
NM_000051.4(ATM):c.2658T>C (p.Ala886=)
|
rs1591593665
|
|
|
NM_000051.4(ATM):c.2662G>T (p.Glu888Ter)
|
rs879254083
|
|
|
NM_000051.4(ATM):c.2663_2664delinsT (p.Glu888fs)
|
|
|
|
NM_000051.4(ATM):c.2664A>G (p.Glu888=)
|
rs2135523410
|
|
|
NM_000051.4(ATM):c.2665dup (p.Tyr889fs)
|
rs2135523450
|
|
|
NM_000051.4(ATM):c.2667T>A (p.Tyr889Ter)
|
rs2081381578
|
|
|
NM_000051.4(ATM):c.2667T>C (p.Tyr889=)
|
rs2081381578
|
|
|
NM_000051.4(ATM):c.2668_2669del (p.Leu890fs)
|
|
|
|
NM_000051.4(ATM):c.2671T>A (p.Ser891Thr)
|
|
|
|
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter)
|
rs876660780
|
|
|
NM_000051.4(ATM):c.2677C>T (p.Gln893Ter)
|
rs1555083131
|
|
|
NM_000051.4(ATM):c.2678A>G (p.Gln893Arg)
|
rs876659776
|
|
|
NM_000051.4(ATM):c.2679A>G (p.Gln893=)
|
rs139316519
|
|
|
NM_000051.4(ATM):c.267C>T (p.Ser89=)
|
rs1555055198
|
|
|
NM_000051.4(ATM):c.2681A>T (p.Asp894Val)
|
rs113482790
|
|
|
NM_000051.4(ATM):c.2683C>A (p.Leu895Ile)
|
rs1299030225
|
|
|
NM_000051.4(ATM):c.2683C>T (p.Leu895=)
|
|
|
|
NM_000051.4(ATM):c.2691C>T (p.Phe897=)
|
|
|
|
NM_000051.4(ATM):c.2693T>G (p.Leu898Ter)
|
rs770610463
|
|
|
NM_000051.4(ATM):c.2700dup (p.Leu901fs)
|
rs1555083198
|
|
|
NM_000051.4(ATM):c.2703C>G (p.Leu901=)
|
rs1315907364
|
|
|
NM_000051.4(ATM):c.2703C>T (p.Leu901=)
|
rs1315907364
|
|
|
NM_000051.4(ATM):c.2704A>G (p.Lys902Glu)
|
rs2135524412
|
|
|
NM_000051.4(ATM):c.2709C>T (p.Phe903=)
|
rs2135524508
|
|
|
NM_000051.4(ATM):c.270G>A (p.Arg90=)
|
rs1313014736
|
|
|
NM_000051.4(ATM):c.2719dup (p.Cys907fs)
|
|
|
|
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer)
|
rs786202695
|
|
|
NM_000051.4(ATM):c.2722G>A (p.Val908Ile)
|
rs1190648236
|
|
|
NM_000051.4(ATM):c.2723T>C (p.Val908Ala)
|
rs754738085
|
|
|
NM_000051.4(ATM):c.2725A>G (p.Thr909Ala)
|
|
|
|
NM_000051.4(ATM):c.2725_2728dup (p.Thr910fs)
|
|
|
|
NM_000051.4(ATM):c.2727del (p.Thr910fs)
|
rs1555083267
|
|
|
NM_000051.4(ATM):c.2728_2749del (p.Thr910fs)
|
|
|
|
NM_000051.4(ATM):c.2729C>G (p.Thr910Ser)
|
|
|
|
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs)
|
rs1064794437
|
|
|
NM_000051.4(ATM):c.2731G>T (p.Ala911Ser)
|
rs1591594169
|
|
|
NM_000051.4(ATM):c.2733T>C (p.Ala911=)
|
|
|
|
NM_000051.4(ATM):c.2734C>T (p.Gln912Ter)
|
rs764409952
|
|
|
NM_000051.4(ATM):c.2736del (p.Thr913fs)
|
|
|
|
NM_000051.4(ATM):c.2739C>G (p.Thr913=)
|
|
|
|
NM_000051.4(ATM):c.2739C>T (p.Thr913=)
|
rs1555083293
|
|
|
NM_000051.4(ATM):c.2742T>C (p.Asn914=)
|
rs1057520522
|
|
|
NM_000051.4(ATM):c.2745T>G (p.Thr915=)
|
|
|
|
NM_000051.4(ATM):c.2746G>A (p.Val916Met)
|
rs2081388106
|
|
|
NM_000051.4(ATM):c.2749dup (p.Ser917fs)
|
rs1555083315
|
|
|
NM_000051.4(ATM):c.274A>G (p.Lys92Glu)
|
rs756969590
|
|
|
NM_000051.4(ATM):c.2751C>A (p.Ser917=)
|
|
|
|
NM_000051.4(ATM):c.2751C>G (p.Ser917=)
|
rs876659611
|
|
|
NM_000051.4(ATM):c.2754T>C (p.Phe918=)
|
rs758955717
|
|
|
NM_000051.4(ATM):c.2754del (p.Phe918fs)
|
rs786202608
|
|
|
NM_000051.4(ATM):c.2755A>C (p.Arg919=)
|
|
|
|
NM_000051.4(ATM):c.2760A>G (p.Ala920=)
|
|
|
|
NM_000051.4(ATM):c.2763T>A (p.Ala921=)
|
rs1555083334
|
|
|
NM_000051.4(ATM):c.2763T>C (p.Ala921=)
|
rs1555083334
|
|
|
NM_000051.4(ATM):c.276A>G (p.Lys92=)
|
rs786201137
|
|
|
NM_000051.4(ATM):c.2770C>A (p.Arg924=)
|
rs55723361
|
|
|
NM_000051.4(ATM):c.2771G>T (p.Arg924Leu)
|
rs587782298
|
|
|
NM_000051.4(ATM):c.2773A>G (p.Arg925Gly)
|
|
|
|
NM_000051.4(ATM):c.2775del (p.Lys926fs)
|
rs1060501702
|
|
|
NM_000051.4(ATM):c.2781G>A (p.Leu927=)
|
rs770565353
|
|
|
NM_000051.4(ATM):c.2788T>C (p.Leu930=)
|
rs2135526232
|
|
|
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)
|
rs786203309
|
|
|
NM_000051.4(ATM):c.2791A>G (p.Ile931Val)
|
rs1308253602
|
|
|
NM_000051.4(ATM):c.2794del (p.Asp932fs)
|
|
|
|
NM_000051.4(ATM):c.2797del (p.Ser933fs)
|
|
|
|
NM_000051.4(ATM):c.2799T>C (p.Ser933=)
|
rs1555083381
|
|
|
NM_000051.4(ATM):c.279G>A (p.Lys93=)
|
rs368196317
|
|
|
NM_000051.4(ATM):c.27delinsCC (p.Ile10fs)
|
|
|
|
NM_000051.4(ATM):c.2802C>T (p.Ser934=)
|
|
|
|
NM_000051.4(ATM):c.2805G>A (p.Thr935=)
|
rs55934812
|
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
|
NM_000051.4(ATM):c.2805G>T (p.Thr935=)
|
rs55934812
|
|
|
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)
|
rs757237504
|
|
|
NM_000051.4(ATM):c.2808A>G (p.Leu936=)
|
rs547791214
|
|
|
NM_000051.4(ATM):c.2810A>T (p.Glu937Val)
|
|
|
|
NM_000051.4(ATM):c.2817C>G (p.Thr939=)
|
rs1555083440
|
|
|
NM_000051.4(ATM):c.2817C>T (p.Thr939=)
|
rs1555083440
|
|
|
NM_000051.4(ATM):c.2817del (p.Lys940fs)
|
rs1555083435
|
|
|
NM_000051.4(ATM):c.2819A>C (p.Lys940Thr)
|
rs762078586
|
|
|
NM_000051.4(ATM):c.2819A>T (p.Lys940Ile)
|
rs762078586
|
|
|
NM_000051.4(ATM):c.281dup (p.Met94fs)
|
|
|
|
NM_000051.4(ATM):c.2823C>A (p.Ser941=)
|
rs750504746
|
|
|
NM_000051.4(ATM):c.2823C>G (p.Ser941=)
|
|
|
|
NM_000051.4(ATM):c.2823C>T (p.Ser941=)
|
rs750504746
|
|
|
NM_000051.4(ATM):c.2829C>T (p.His943=)
|
|
|
|
NM_000051.4(ATM):c.2829_2838+16delinsA
|
rs1565420196
|
|
|
NM_000051.4(ATM):c.2830C>T (p.Leu944=)
|
|
|
|
NM_000051.4(ATM):c.2838+10G>A
|
rs1555083482
|
|
|
NM_000051.4(ATM):c.2838+1G>A
|
rs1555083469
|
|
|
NM_000051.4(ATM):c.2838+1G>T
|
rs1555083469
|
|
|
NM_000051.4(ATM):c.2838+2T>A
|
|
|
|
NM_000051.4(ATM):c.2838+8A>G
|
rs1295524564
|
|
|
NM_000051.4(ATM):c.2838+9C>A
|
rs370160823
|
|
|
NM_000051.4(ATM):c.2838+9C>T
|
rs370160823
|
|
|
NM_000051.4(ATM):c.2839-11T>C
|
|
|
|
NM_000051.4(ATM):c.2839-13C>T
|
|
|
|
NM_000051.4(ATM):c.2839-15C>T
|
rs2081545815
|
|
|
NM_000051.4(ATM):c.2839-15dup
|
|
|
|
NM_000051.4(ATM):c.2839-18del
|
|
|
|
NM_000051.4(ATM):c.2839-18dup
|
rs730881287
|
|
|
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA
|
rs786202148
|
|
|
NM_000051.4(ATM):c.2839-3_2841del
|
rs2135547107
|
|
|
NM_000051.4(ATM):c.2839-4T>C
|
rs1057522619
|
|
|
NM_000051.4(ATM):c.2839-6T>C
|
rs1338486619
|
|
|
NM_000051.4(ATM):c.2839-7A>G
|
rs1445472389
|
|
|
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)
|
rs587781545
|
|
|
NM_000051.4(ATM):c.2840A>C (p.Tyr947Ser)
|
|
|
|
NM_000051.4(ATM):c.2841T>C (p.Tyr947=)
|
rs1167845678
|
|
|
NM_000051.4(ATM):c.2844A>G (p.Leu948=)
|
rs1555084628
|
|
|
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)
|
rs786203054
|
|
|
NM_000051.4(ATM):c.2853A>G (p.Leu951=)
|
|
|
|
NM_000051.4(ATM):c.2856G>A (p.Lys952=)
|
rs2135547604
|
|
|
NM_000051.4(ATM):c.2858A>G (p.Glu953Gly)
|
|
|
|
NM_000051.4(ATM):c.2865T>C (p.Pro955=)
|
rs1555084654
|
|
|
NM_000051.4(ATM):c.2865del (p.Gly956fs)
|
|
|
|
NM_000051.4(ATM):c.2871A>G (p.Glu957=)
|
rs863224291
|
|
|
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)
|
rs587778069
|
|
|
NM_000051.4(ATM):c.2874G>A (p.Glu958=)
|
rs1555084671
|
|
|
NM_000051.4(ATM):c.2877C>A (p.Tyr959Ter)
|
rs1057517253
|
|
|
NM_000051.4(ATM):c.2877C>T (p.Tyr959=)
|
rs1057517253
|
|
|
NM_000051.4(ATM):c.2879_2880del (p.Pro960fs)
|
|
|
|
NM_000051.4(ATM):c.2880C>G (p.Pro960=)
|
|
|
|
NM_000051.4(ATM):c.2880C>T (p.Pro960=)
|
rs1591602430
|
|
|
NM_000051.4(ATM):c.2880del (p.Leu961fs)
|
rs730881300
|
|
|
NM_000051.4(ATM):c.2881_2885del (p.Leu961fs)
|
|
|
|
NM_000051.4(ATM):c.2883G>A (p.Leu961=)
|
|
|
|
NM_000051.4(ATM):c.2890del (p.Glu964fs)
|
|
|
|
NM_000051.4(ATM):c.2895T>C (p.Asp965=)
|
rs1424320755
|
|
|
NM_000051.4(ATM):c.289del (p.Ile97fs)
|
rs878853497
|
|
|
NM_000051.4(ATM):c.2901T>G (p.Leu967=)
|
rs778731866
|
|
|
NM_000051.4(ATM):c.2904A>G (p.Glu968=)
|
|
|
|
NM_000051.4(ATM):c.2908C>T (p.Leu970=)
|
rs1060504260
|
|
|
NM_000051.4(ATM):c.2910_2921+10del
|
|
|
|
NM_000051.4(ATM):c.2912_2916del (p.Lys971fs)
|
rs587781656
|
|
|
NM_000051.4(ATM):c.2913A>G (p.Lys971=)
|
rs1057522291
|
|
|
NM_000051.4(ATM):c.2916A>T (p.Pro972=)
|
rs2081553201
|
|
|
NM_000051.4(ATM):c.291C>T (p.Ile97=)
|
rs746762110
|
|
|
NM_000051.4(ATM):c.2921+10T>G
|
rs1060504278
|
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
|
NM_000051.4(ATM):c.2921+1G>C
|
rs587781558
|
|
|
NM_000051.4(ATM):c.2921+1G>T
|
rs587781558
|
|
|
NM_000051.4(ATM):c.2921+2dup
|
rs1565424654
|
|
|
NM_000051.4(ATM):c.2921C>G (p.Ser974Cys)
|
rs538105098
|
|
|
NM_000051.4(ATM):c.2922-10_2922-8del
|
rs373881770
|
|
|
NM_000051.4(ATM):c.2922-13T>C
|
rs1565424946
|
|
|
NM_000051.4(ATM):c.2922-14T>C
|
rs761100734
|
|
|
NM_000051.4(ATM):c.2922-17T>G
|
|
|
|
NM_000051.4(ATM):c.2922-18T>G
|
|
|
|
NM_000051.4(ATM):c.2922-19T>C
|
|
|
|
NM_000051.4(ATM):c.2922-1G>A
|
rs1555084931
|
|
|
NM_000051.4(ATM):c.2922-1G>C
|
|
|
|
NM_000051.4(ATM):c.2922-1G>T
|
rs1555084931
|
|
|
NM_000051.4(ATM):c.2922-4A>G
|
rs1555084924
|
|
|
NM_000051.4(ATM):c.2922-50_2940del
|
rs1555084832
|
|
|
NM_000051.4(ATM):c.2922-5C>T
|
rs1452462211
|
|
|
NM_000051.4(ATM):c.2922-6C>T
|
|
|
|
NM_000051.4(ATM):c.2922-7A>G
|
|
|
|
NM_000051.4(ATM):c.2925T>C (p.Asn975=)
|
rs765848319
|
|
|
NM_000051.4(ATM):c.2928G>A (p.Val976=)
|
rs1591603577
|
|
|
NM_000051.4(ATM):c.2928_2931dup (p.Ser978fs)
|
|
|
|
NM_000051.4(ATM):c.2930G>T (p.Cys977Phe)
|
rs876660628
|
|
|
NM_000051.4(ATM):c.2930_2931del (p.Cys977fs)
|
rs1555084947
|
|
|
NM_000051.4(ATM):c.2931T>G (p.Cys977Trp)
|
|
|
|
NM_000051.4(ATM):c.2934T>C (p.Ser978=)
|
|
|
|
NM_000051.4(ATM):c.2937G>T (p.Leu979Phe)
|
rs1166904824
|
|
|
NM_000051.4(ATM):c.2938del (p.Tyr980fs)
|
rs1565425118
|
|
|
NM_000051.4(ATM):c.2945G>A (p.Arg982His)
|
rs749471737
|
|
|
NM_000051.4(ATM):c.2950C>G (p.Gln984Glu)
|
rs2135552016
|
|
|
NM_000051.4(ATM):c.2952A>G (p.Gln984=)
|
rs1476499901
|
|
|
NM_000051.4(ATM):c.2956del (p.Val986fs)
|
rs2135552199
|
|
|
NM_000051.4(ATM):c.2964_2965del (p.Lys988fs)
|
|
|
|
NM_000051.4(ATM):c.2965del (p.Thr989fs)
|
rs786203539
|
|
|
NM_000051.4(ATM):c.2966dup (p.Ile990fs)
|
rs1555085060
|
|
|
NM_000051.4(ATM):c.2972T>A (p.Leu991Ter)
|
|
|
|
NM_000051.4(ATM):c.2977del (p.His993fs)
|
|
|
|
NM_000051.4(ATM):c.2978A>G (p.His993Arg)
|
rs878853498
|
|
|
NM_000051.4(ATM):c.2979T>C (p.His993=)
|
|
|
|
NM_000051.4(ATM):c.2982C>T (p.Val994=)
|
rs200541844
|
|
|
NM_000051.4(ATM):c.2985T>A (p.Leu995=)
|
rs1555085087
|
|
|
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer)
|
rs1060501600
|
|
|
NM_000051.4(ATM):c.2988T>G (p.His996Gln)
|
rs559676197
|
|
|
NM_000051.4(ATM):c.2989del (p.His996_Val997insTer)
|
|
|
|
NM_000051.4(ATM):c.2991A>G (p.Val997=)
|
rs1203368496
|
|
|
NM_000051.4(ATM):c.2994G>A (p.Val998=)
|
rs1555085118
|
|
|
NM_000051.4(ATM):c.2999dup (p.Asn1000fs)
|
rs1057516250
|
|
|
NM_000051.4(ATM):c.299T>A (p.Leu100Ter)
|
rs761936549
|
|
|
NM_000051.4(ATM):c.3001C>T (p.Leu1001=)
|
|
|
|
NM_000051.4(ATM):c.3003A>C (p.Leu1001=)
|
rs765969190
|
|
|
NM_000051.4(ATM):c.3009A>G (p.Gln1003=)
|
rs1555085154
|
|
|
NM_000051.4(ATM):c.3015T>C (p.Asn1005=)
|
|
|
|
NM_000051.4(ATM):c.3021C>T (p.Asp1007=)
|
rs1591604426
|
|
|
NM_000051.4(ATM):c.3022T>C (p.Ser1008Pro)
|
rs2135553747
|
|
|
NM_000051.4(ATM):c.3024T>C (p.Ser1008=)
|
rs1060504274
|
|
|
NM_000051.4(ATM):c.3024T>G (p.Ser1008=)
|
rs1060504274
|
|
|
NM_000051.4(ATM):c.3024_3025del (p.Asn1010fs)
|
rs2135553856
|
|
|
NM_000051.4(ATM):c.3024del (p.Glu1009fs)
|
|
|
|
NM_000051.4(ATM):c.3025G>C (p.Glu1009Gln)
|
rs1064794039
|
|
|
NM_000051.4(ATM):c.3027G>A (p.Glu1009=)
|
rs1060504299
|
|
|
NM_000051.4(ATM):c.3034A>C (p.Arg1012=)
|
rs752615128
|
|
|
NM_000051.4(ATM):c.3034dup (p.Arg1012fs)
|
rs2135554107
|
|
|
NM_000051.4(ATM):c.3035_3038dup (p.Asp1013fs)
|
|
|
|
NM_000051.4(ATM):c.3038dup (p.Asp1013fs)
|
rs1131691163
|
|
|
NM_000051.4(ATM):c.3039T>C (p.Asp1013=)
|
rs1591604597
|
|
|
NM_000051.4(ATM):c.303C>G (p.Val101=)
|
rs1555055291
|
|
|
NM_000051.4(ATM):c.3042T>C (p.Ala1014=)
|
rs1555085205
|
|
|
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter)
|
rs1555085210
|
|
|
NM_000051.4(ATM):c.3045A>G (p.Gln1015=)
|
rs1064796404
|
|
|
NM_000051.4(ATM):c.3046G>T (p.Gly1016Ter)
|
rs2081575204
|
|
|
NM_000051.4(ATM):c.3048A>G (p.Gly1016=)
|
rs786203820
|
|
|
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)
|
rs730881388
|
|
|
NM_000051.4(ATM):c.3051G>A (p.Gln1017=)
|
|
|
|
NM_000051.4(ATM):c.3055C>G (p.Leu1019Val)
|
rs863224560
|
|
|
NM_000051.4(ATM):c.3059C>A (p.Thr1020Lys)
|
rs186626274
|
|
|
NM_000051.4(ATM):c.3059C>T (p.Thr1020Ile)
|
rs186626274
|
|
|
NM_000051.4(ATM):c.305A>T (p.Lys102Ile)
|
rs1555055293
|
|
|
NM_000051.4(ATM):c.3060A>G (p.Thr1020=)
|
rs1591604737
|
|
|
NM_000051.4(ATM):c.3063A>G (p.Val1021=)
|
rs1591604752
|
|
|
NM_000051.4(ATM):c.3069A>G (p.Gly1023=)
|
rs778984289
|
|
|
NM_000051.4(ATM):c.306A>C (p.Lys102Asn)
|
|
|
|
NM_000051.4(ATM):c.3077+10G>A
|
|
|
|
NM_000051.4(ATM):c.3077+15T>C
|
rs1555085277
|
|
|
NM_000051.4(ATM):c.3077+1G>A
|
rs192810283
|
|
|
NM_000051.4(ATM):c.3077+1G>C
|
|
|
|
NM_000051.4(ATM):c.3077+1G>T
|
rs192810283
|
|
|
NM_000051.4(ATM):c.3077+7A>T
|
|
|
|
NM_000051.4(ATM):c.3077+8C>A
|
rs752601608
|
|
|
NM_000051.4(ATM):c.3077+8C>T
|
rs752601608
|
|
|
NM_000051.4(ATM):c.3077+9A>G
|
|
|
|
NM_000051.4(ATM):c.3077+9A>T
|
|
|
|
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter)
|
rs587782103
|
|
|
NM_000051.4(ATM):c.3078-12A>G
|
|
|
|
NM_000051.4(ATM):c.3078-12A>T
|
rs1555085749
|
|
|
NM_000051.4(ATM):c.3078-16A>C
|
|
|
|
NM_000051.4(ATM):c.3078-19A>G
|
|
|
|
NM_000051.4(ATM):c.3078-1G>T
|
|
|
|
NM_000051.4(ATM):c.3078-2A>C
|
rs2135564916
|
|
|
NM_000051.4(ATM):c.3078-5T>C
|
rs1565427457
|
|
|
NM_000051.4(ATM):c.3078-8G>T
|
|
|
|
NM_000051.4(ATM):c.3078G>C (p.Trp1026Cys)
|
rs876660869
|
|
|
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys)
|
rs876660869
|
|
|
NM_000051.4(ATM):c.3080A>G (p.His1027Arg)
|
rs786204217
|
|
|
NM_000051.4(ATM):c.3081T>C (p.His1027=)
|
rs864622587
|
|
|
NM_000051.4(ATM):c.3083T>C (p.Leu1028Pro)
|
rs1555085776
|
|
|
NM_000051.4(ATM):c.3084A>G (p.Leu1028=)
|
rs1565427561
|
|
|
NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser)
|
rs730881355
|
|
|
NM_000051.4(ATM):c.3085dup (p.Thr1029fs)
|
rs876658502
|
|
|
NM_000051.4(ATM):c.3087A>C (p.Thr1029=)
|
rs1555085787
|
|
|
NM_000051.4(ATM):c.3088A>G (p.Lys1030Glu)
|
rs863224561
|
|
|
NM_000051.4(ATM):c.3090G>A (p.Lys1030=)
|
rs1591608292
|
|
|
NM_000051.4(ATM):c.3093G>A (p.Glu1031=)
|
rs1555085799
|
|
|
NM_000051.4(ATM):c.30C>T (p.Ile10=)
|
rs1591445856
|
|
|
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)
|
rs780240314
|
|
|
NM_000051.4(ATM):c.3110C>T (p.Ser1037Phe)
|
rs1555085821
|
|
|
NM_000051.4(ATM):c.3111T>C (p.Ser1037=)
|
rs1591608393
|
|
|
NM_000051.4(ATM):c.3112_3113del (p.Val1038fs)
|
rs2135565843
|
|
|
NM_000051.4(ATM):c.3113dup (p.Arg1039fs)
|
|
|
|
NM_000051.4(ATM):c.3117A>G (p.Arg1039=)
|
rs55784207
|
|
|
NM_000051.4(ATM):c.311del (p.Phe104fs)
|
rs1555055309
|
|
|
NM_000051.4(ATM):c.3124C>T (p.Leu1042=)
|
|
|
|
NM_000051.4(ATM):c.3135C>T (p.Cys1045=)
|
rs773577455
|
|
|
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)
|
rs568461905
|
|
|
NM_000051.4(ATM):c.3138T>C (p.Leu1046=)
|
rs3092858
|
|
|
NM_000051.4(ATM):c.3139A>G (p.Lys1047Glu)
|
rs587778071
|
|
|
NM_000051.4(ATM):c.3141_3142del (p.Lys1047fs)
|
|
|
|
NM_000051.4(ATM):c.3146del (p.Leu1049fs)
|
|
|
|
NM_000051.4(ATM):c.3147G>A (p.Leu1049=)
|
rs1060501686
|
|
|
NM_000051.4(ATM):c.3149T>G (p.Leu1050Arg)
|
rs1555085890
|
|
|
NM_000051.4(ATM):c.3153+1G>A
|
rs2081646501
|
|
|
NM_000051.4(ATM):c.3153+1G>T
|
rs2081646501
|
|
|
NM_000051.4(ATM):c.3153+7T>C
|
rs2135567095
|
|
|
NM_000051.4(ATM):c.3153+7_3153+8insA
|
rs878853500
|
|
|
NM_000051.4(ATM):c.3153+9T>C
|
rs770464168
|
|
|
NM_000051.4(ATM):c.3154-12C>T
|
|
|
|
NM_000051.4(ATM):c.3154-16A>C
|
|
|
|
NM_000051.4(ATM):c.3154-16A>T
|
|
|
|
NM_000051.4(ATM):c.3154-18del
|
|
|
|
NM_000051.4(ATM):c.3154-19C>T
|
|
|
|
NM_000051.4(ATM):c.3154-1G>A
|
rs1555085973
|
|
|
NM_000051.4(ATM):c.3154-1G>T
|
rs1555085973
|
|
|
NM_000051.4(ATM):c.3154-1_3154delinsTT
|
rs2081657007
|
|
|
NM_000051.4(ATM):c.3154-20C>T
|
rs1057522141
|
|
|
NM_000051.4(ATM):c.3154-2A>C
|
|
|
|
NM_000051.4(ATM):c.3154-3T>C
|
|
|
|
NM_000051.4(ATM):c.3154-4G>A
|
rs199543313
|
|
|
NM_000051.4(ATM):c.3154-4G>T
|
rs199543313
|
|
|
NM_000051.4(ATM):c.3154-7C>T
|
rs756615573
|
|
|
NM_000051.4(ATM):c.3154-8T>C
|
|
|
|
NM_000051.4(ATM):c.3154-9T>C
|
rs2135569385
|
|
|
NM_000051.4(ATM):c.3161C>A (p.Pro1054His)
|
rs1800057
|
|
|
NM_000051.4(ATM):c.3162T>G (p.Pro1054=)
|
rs2081658300
|
|
|
NM_000051.4(ATM):c.3167C>A (p.Ser1056Ter)
|
rs1565428419
|
|
|
NM_000051.4(ATM):c.3167C>G (p.Ser1056Ter)
|
|
|
|
NM_000051.4(ATM):c.3168A>C (p.Ser1056=)
|
|
|
|
NM_000051.4(ATM):c.3168A>G (p.Ser1056=)
|
|
|
|
NM_000051.4(ATM):c.316A>T (p.Lys106Ter)
|
|
|
|
NM_000051.4(ATM):c.3171dup (p.Trp1058fs)
|
rs2135570105
|
|
|
NM_000051.4(ATM):c.3173G>A (p.Trp1058Ter)
|
|
|
|
NM_000051.4(ATM):c.3174G>C (p.Trp1058Cys)
|
rs1064796080
|
|
|
NM_000051.4(ATM):c.3177C>T (p.Ala1059=)
|
|
|
|
NM_000051.4(ATM):c.3186T>C (p.Asn1062=)
|
|
|
|
NM_000051.4(ATM):c.3188dup (p.Met1064fs)
|
rs2135570632
|
|
|
NM_000051.4(ATM):c.3195A>G (p.Gly1065=)
|
|
|
|
NM_000051.4(ATM):c.3196A>C (p.Lys1066Gln)
|
rs1555086041
|
|
|
NM_000051.4(ATM):c.3199G>T (p.Asp1067Tyr)
|
rs766342338
|
|
|
NM_000051.4(ATM):c.3201C>T (p.Asp1067=)
|
rs1188674152
|
|
|
NM_000051.4(ATM):c.3204T>C (p.Phe1068=)
|
rs1555086059
|
|
|
NM_000051.4(ATM):c.3205C>G (p.Pro1069Ala)
|
|
|
|
NM_000051.4(ATM):c.3206del (p.Pro1069fs)
|
rs1060501677
|
|
|
NM_000051.4(ATM):c.320dup (p.Cys107fs)
|
rs2078893430
|
|
|
NM_000051.4(ATM):c.3210A>G (p.Val1070=)
|
rs1443665212
|
|
|
NM_000051.4(ATM):c.3210A>T (p.Val1070=)
|
rs1443665212
|
|
|
NM_000051.4(ATM):c.3213T>C (p.Asn1071=)
|
rs786203221
|
|
|
NM_000051.4(ATM):c.3218_3227del (p.Val1073fs)
|
|
|
|
NM_000051.4(ATM):c.3218dup (p.Phe1074fs)
|
rs876660741
|
|
|
NM_000051.4(ATM):c.3225A>C (p.Thr1075=)
|
|
|
|
NM_000051.4(ATM):c.3225A>G (p.Thr1075=)
|
rs1555086107
|
|
|
NM_000051.4(ATM):c.3228A>G (p.Gln1076=)
|
rs1057522201
|
|
|
NM_000051.4(ATM):c.3230_3231del (p.Phe1077fs)
|
|
|
|
NM_000051.4(ATM):c.3231dup (p.Leu1078fs)
|
rs1057517097
|
|
|
NM_000051.4(ATM):c.3236C>G (p.Ala1079Gly)
|
rs778233602
|
|
|
NM_000051.4(ATM):c.3237T>G (p.Ala1079=)
|
|
|
|
NM_000051.4(ATM):c.323C>G (p.Ala108Gly)
|
rs766951228
|
|
|
NM_000051.4(ATM):c.3240C>T (p.Asp1080=)
|
|
|
|
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs)
|
rs1060501587
|
|
|
NM_000051.4(ATM):c.3244_3245insG (p.His1082fs)
|
rs761486324
|
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
|
NM_000051.4(ATM):c.3248A>G (p.His1083Arg)
|
rs2081667850
|
|
|
NM_000051.4(ATM):c.3249C>T (p.His1083=)
|
|
|
|
NM_000051.4(ATM):c.324A>G (p.Ala108=)
|
rs2135038430
|
|
|
NM_000051.4(ATM):c.3250C>T (p.Gln1084Ter)
|
rs1386063673
|
|
|
NM_000051.4(ATM):c.3252_3259del (p.Gln1084fs)
|
rs876658402
|
|
|
NM_000051.4(ATM):c.3254T>C (p.Val1085Ala)
|
rs1284116426
|
|
|
NM_000051.4(ATM):c.3257G>A (p.Arg1086His)
|
rs769857066
|
|
|
NM_000051.4(ATM):c.3258C>T (p.Arg1086=)
|
rs773277362
|
|
|
NM_000051.4(ATM):c.325_326del (p.Asn109fs)
|
rs2135038488
|
|
|
NM_000051.4(ATM):c.3260T>C (p.Met1087Thr)
|
rs1460583900
|
|
|
NM_000051.4(ATM):c.3261del (p.Met1087fs)
|
rs1565429054
|
|
|
NM_000051.4(ATM):c.3262T>C (p.Leu1088=)
|
rs2081670323
|
|
|
NM_000051.4(ATM):c.3267T>C (p.Ala1089=)
|
|
|
|
NM_000051.4(ATM):c.3270A>C (p.Ala1090=)
|
|
|
|
NM_000051.4(ATM):c.3270A>G (p.Ala1090=)
|
rs997005308
|
|
|
NM_000051.4(ATM):c.3270A>T (p.Ala1090=)
|
|
|
|
NM_000051.4(ATM):c.3272_3273del (p.Glu1091fs)
|
rs1565429102
|
|
|
NM_000051.4(ATM):c.3273G>A (p.Glu1091=)
|
rs762860946
|
|
|
NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter)
|
rs774197372
|
|
|
NM_000051.4(ATM):c.3279_3280insT (p.Asn1094Ter)
|
rs1131691155
|
|
|
NM_000051.4(ATM):c.3281del (p.Asn1094fs)
|
rs776516754
|
|
|
NM_000051.4(ATM):c.3282T>C (p.Asn1094=)
|
|
|
|
NM_000051.4(ATM):c.3284+1G>A
|
rs864622129
|
|
|
NM_000051.4(ATM):c.3284+1G>C
|
rs864622129
|
|
|
NM_000051.4(ATM):c.3284+2T>C
|
|
|
|
NM_000051.4(ATM):c.3284+4A>G
|
rs1591610423
|
|
|
NM_000051.4(ATM):c.3284+8dup
|
rs886047611
|
|
|
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys)
|
rs587781815
|
|
|
NM_000051.4(ATM):c.3285-11C>T
|
|
|
|
NM_000051.4(ATM):c.3285-12G>A
|
rs1057521452
|
|
|
NM_000051.4(ATM):c.3285-13_3285-9del
|
rs2082112477
|
|
|
NM_000051.4(ATM):c.3285-13del
|
rs1245305174
|
|
|
NM_000051.4(ATM):c.3285-14T>C
|
rs2082112216
|
|
|
NM_000051.4(ATM):c.3285-14_3285-10delinsCTGC
|
|
|
|
NM_000051.4(ATM):c.3285-16G>A
|
|
|
|
NM_000051.4(ATM):c.3285-16G>C
|
|
|
|
NM_000051.4(ATM):c.3285-16G>T
|
rs1057524332
|
|
|
NM_000051.4(ATM):c.3285-2A>G
|
rs1591631876
|
|
|
NM_000051.4(ATM):c.3285-31TTTG[3]
|
rs750490644
|
|
|
NM_000051.4(ATM):c.3285-31TTTG[5]
|
rs750490644
|
|
|
NM_000051.4(ATM):c.3285-5T>C
|
rs876659715
|
|
|
NM_000051.4(ATM):c.3285-6T>C
|
|
|
|
NM_000051.4(ATM):c.3285-7T>C
|
rs913535107
|
|
|
NM_000051.4(ATM):c.3285-8G>C
|
rs1469259085
|
|
|
NM_000051.4(ATM):c.3285-8_3285-7insCTG
|
|
|
|
NM_000051.4(ATM):c.3285-9_3285-5delinsGTTC
|
rs1064796108
|
|
|
NM_000051.4(ATM):c.3285-9_3285-8delinsA
|
|
|
|
NM_000051.4(ATM):c.3285-9del
|
rs1799757
|
|
|
NM_000051.4(ATM):c.3289_3299delinsGTGTCCA (p.Phe1097fs)
|
|
|
|
NM_000051.4(ATM):c.3292C>T (p.Gln1098Ter)
|
rs773964990
|
|
|
NM_000051.4(ATM):c.3292del (p.Gln1098fs)
|
rs1555090075
|
|
|
NM_000051.4(ATM):c.3292dup (p.Gln1098fs)
|
|
|
|
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg)
|
rs1060501590
|
|
|
NM_000051.4(ATM):c.3297del (p.Asp1099fs)
|
rs2082115419
|
|
|
NM_000051.4(ATM):c.3300G>T (p.Thr1100=)
|
rs587780621
|
|
|
NM_000051.4(ATM):c.3304G>T (p.Gly1102Ter)
|
rs147557621
|
|
|
NM_000051.4(ATM):c.3307G>C (p.Asp1103His)
|
rs1555090114
|
|
|
NM_000051.4(ATM):c.3308A>C (p.Asp1103Ala)
|
rs1555090118
|
|
|
NM_000051.4(ATM):c.331+1G>A
|
rs1555055356
|
|
|
NM_000051.4(ATM):c.331+1G>C
|
|
|
|
NM_000051.4(ATM):c.331+2T>C
|
rs1555055358
|
|
|
NM_000051.4(ATM):c.331+2_331+7del
|
|
|
|
NM_000051.4(ATM):c.331+2del
|
|
|
|
NM_000051.4(ATM):c.331+5G>A
|
rs752135143
|
|
|
NM_000051.4(ATM):c.331+8A>G
|
rs878853503
|
|
|
NM_000051.4(ATM):c.3310del (p.Ser1104fs)
|
|
|
|
NM_000051.4(ATM):c.3310dup (p.Ser1104fs)
|
|
|
|
NM_000051.4(ATM):c.3315C>T (p.Ser1105=)
|
|
|
|
NM_000051.4(ATM):c.3318G>A (p.Arg1106=)
|
|
|
|
NM_000051.4(ATM):c.332-11T>C
|
rs1565356404
|
|
|
NM_000051.4(ATM):c.332-12A>C
|
|
|
|
NM_000051.4(ATM):c.332-16_332-13del
|
|
|
|
NM_000051.4(ATM):c.332-16_332-9del
|
|
|
|
NM_000051.4(ATM):c.332-20A>C
|
|
|
|
NM_000051.4(ATM):c.332-20A>G
|
rs1555058985
|
|
|
NM_000051.4(ATM):c.332-20_332-17del
|
rs898739905
|
|
|
NM_000051.4(ATM):c.332-4A>G
|
|
|
|
NM_000051.4(ATM):c.332-6A>G
|
|
|
|
NM_000051.4(ATM):c.332-7G>A
|
rs1591474291
|
|
|
NM_000051.4(ATM):c.332-7G>T
|
rs1591474291
|
|
|
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter)
|
rs1060501711
|
|
|
NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer)
|
rs1555090139
|
|
|
NM_000051.4(ATM):c.3322C>T (p.Leu1108=)
|
rs1555090147
|
|
|
NM_000051.4(ATM):c.3324G>A (p.Leu1108=)
|
|
|
|
NM_000051.4(ATM):c.3324G>C (p.Leu1108=)
|
rs762269034
|
|
|
NM_000051.4(ATM):c.3327A>G (p.Lys1109=)
|
|
|
|
NM_000051.4(ATM):c.3329C>T (p.Ala1110Val)
|
rs1479434069
|
|
|
NM_000051.4(ATM):c.3334C>T (p.Pro1112Ser)
|
rs876658963
|
|
|
NM_000051.4(ATM):c.3339G>A (p.Leu1113=)
|
rs1591632173
|
|
|
NM_000051.4(ATM):c.333A>G (p.Arg111=)
|
rs2135120788
|
|
|
NM_000051.4(ATM):c.3340A>G (p.Lys1114Glu)
|
rs1049900772
|
|
|
NM_000051.4(ATM):c.3340A>T (p.Lys1114Ter)
|
rs1049900772
|
|
|
NM_000051.4(ATM):c.3343C>T (p.Leu1115Phe)
|
rs752339681
|
|
|
NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter)
|
rs2135644009
|
|
|
NM_000051.4(ATM):c.3348G>A (p.Gln1116=)
|
|
|
|
NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter)
|
rs786201957
|
|
|
NM_000051.4(ATM):c.334del (p.Ala112fs)
|
|
|
|
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)
|
rs1057516446
|
|
|
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)
|
rs572564322
|
|
|
NM_000051.4(ATM):c.3352del (p.Thr1118fs)
|
rs2082120435
|
|
|
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile)
|
rs539847847
|
|
|
NM_000051.4(ATM):c.3356_3357del (p.Ala1119fs)
|
|
|
|
NM_000051.4(ATM):c.3360T>G (p.Phe1120Leu)
|
rs2082121277
|
|
|
NM_000051.4(ATM):c.3363A>G (p.Glu1121=)
|
|
|
|
NM_000051.4(ATM):c.3366T>C (p.Asn1122=)
|
rs2135644622
|
|
|
NM_000051.4(ATM):c.3369A>C (p.Ala1123=)
|
|
|
|
NM_000051.4(ATM):c.3369del (p.Tyr1124fs)
|
rs587781752
|
|
|
NM_000051.4(ATM):c.336A>G (p.Ala112=)
|
rs777759909
|
|
|
NM_000051.4(ATM):c.336A>T (p.Ala112=)
|
rs777759909
|
|
|
NM_000051.4(ATM):c.3375G>A (p.Leu1125=)
|
rs760821273
|
|
|
NM_000051.4(ATM):c.3381T>C (p.Ala1127=)
|
rs1371503633
|
|
|
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)
|
rs587781971
|
|
|
NM_000051.4(ATM):c.3382C>T (p.Gln1128Ter)
|
rs876659825
|
|
|
NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter)
|
rs587781911
|
|
|
NM_000051.4(ATM):c.338C>T (p.Pro113Leu)
|
rs876658324
|
|
|
NM_000051.4(ATM):c.3394A>G (p.Arg1132Gly)
|
rs1591632541
|
|
|
NM_000051.4(ATM):c.339T>C (p.Pro113=)
|
rs1555059023
|
|
|
NM_000051.4(ATM):c.3401T>C (p.Met1134Thr)
|
|
|
|
NM_000051.4(ATM):c.3402+17T>G
|
|
|
|
NM_000051.4(ATM):c.3402+1G>T
|
rs1565439606
|
|
|
NM_000051.4(ATM):c.3402+7T>C
|
|
|
|
NM_000051.4(ATM):c.3403-13dup
|
rs3218681
|
|
|
NM_000051.4(ATM):c.3403-15del
|
|
|
|
NM_000051.4(ATM):c.3403-1_3577-680del
|
|
|
|
NM_000051.4(ATM):c.3403-3A>C
|
rs374866638
|
|
|
NM_000051.4(ATM):c.3403-4T>C
|
rs1591636158
|
|
|
NM_000051.4(ATM):c.3403-7T>C
|
rs1335592958
|
|
|
NM_000051.4(ATM):c.3404_3428delinsTTGAATGAAAT (p.Ser1135_Thr1143delinsPheGluTer)
|
rs1591636185
|
|
|
NM_000051.4(ATM):c.3405C>T (p.Ser1135=)
|
rs746829748
|
|
|
NM_000051.4(ATM):c.3406del (p.His1136fs)
|
|
|
|
NM_000051.4(ATM):c.340del (p.Arg114fs)
|
|
|
|
NM_000051.4(ATM):c.3414T>C (p.Ala1138=)
|
rs1565441410
|
|
|
NM_000051.4(ATM):c.3415G>A (p.Glu1139Lys)
|
rs786203048
|
|
|
NM_000051.4(ATM):c.3417G>A (p.Glu1139=)
|
rs879254069
|
|
|
NM_000051.4(ATM):c.3420C>T (p.Asn1140=)
|
rs1329688204
|
|
|
NM_000051.4(ATM):c.3422del (p.Pro1141fs)
|
|
|
|
NM_000051.4(ATM):c.342G>A (p.Arg114=)
|
rs1555059036
|
|
|
NM_000051.4(ATM):c.3431del (p.Leu1144fs)
|
rs1555091158
|
|
|
NM_000051.4(ATM):c.3435T>C (p.Asp1145=)
|
rs2082204446
|
|
|
NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs)
|
rs886039632
|
|
|
NM_000051.4(ATM):c.3435del (p.Asp1145fs)
|
rs1591636349
|
|
|
NM_000051.4(ATM):c.3439del (p.Ile1147fs)
|
|
|
|
NM_000051.4(ATM):c.3444T>C (p.Tyr1148=)
|
rs1591636407
|
|
|
NM_000051.4(ATM):c.3447T>C (p.Asn1149=)
|
rs763473729
|
|
|
NM_000051.4(ATM):c.3448A>C (p.Arg1150=)
|
rs786201209
|
|
|
NM_000051.4(ATM):c.3448A>T (p.Arg1150Ter)
|
rs786201209
|
|
|
NM_000051.4(ATM):c.3450A>G (p.Arg1150=)
|
rs2135666527
|
|
|
NM_000051.4(ATM):c.3450_3454del (p.Arg1150fs)
|
rs1060501676
|
|
|
NM_000051.4(ATM):c.3453dup (p.Ser1152fs)
|
rs2135666539
|
|
|
NM_000051.4(ATM):c.3455_3456del (p.Ser1152fs)
|
rs2135666711
|
|
|
NM_000051.4(ATM):c.3456T>C (p.Ser1152=)
|
|
|
|
NM_000051.4(ATM):c.3461del (p.Leu1154fs)
|
|
|
|
NM_000051.4(ATM):c.3463C>T (p.Leu1155=)
|
rs1555091217
|
|
|
NM_000051.4(ATM):c.3465G>A (p.Leu1155=)
|
|
|
|
NM_000051.4(ATM):c.3468G>T (p.Thr1156=)
|
|
|
|
NM_000051.4(ATM):c.3470T>C (p.Leu1157Ser)
|
rs2135667225
|
|
|
NM_000051.4(ATM):c.3470_3479del (p.Leu1157fs)
|
|
|
|
NM_000051.4(ATM):c.3471G>A (p.Leu1157=)
|
rs878853504
|
|
|
NM_000051.4(ATM):c.3475del (p.Ala1159fs)
|
|
|
|
NM_000051.4(ATM):c.3480G>T (p.Val1160=)
|
rs1001303564
|
|
|
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer)
|
rs1555091238
|
|
|
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter)
|
rs1591636613
|
|
|
NM_000051.4(ATM):c.3485del (p.Leu1162fs)
|
rs2082207948
|
|
|
NM_000051.4(ATM):c.3486A>G (p.Leu1162=)
|
|
|
|
NM_000051.4(ATM):c.3489C>T (p.Ser1163=)
|
rs864622097
|
|
|
NM_000051.4(ATM):c.3492T>C (p.Cys1164=)
|
|
|
|
NM_000051.4(ATM):c.3495C>T (p.Ser1165=)
|
rs878853505
|
|
|
NM_000051.4(ATM):c.3498T>C (p.Pro1166=)
|
rs1555091273
|
|
|
NM_000051.4(ATM):c.3499A>C (p.Ile1167Leu)
|
rs1222634243
|
|
|
NM_000051.4(ATM):c.3501C>T (p.Ile1167=)
|
rs1555091279
|
|
|
NM_000051.4(ATM):c.3503dup (p.Cys1168fs)
|
rs2082209411
|
|
|
NM_000051.4(ATM):c.3507A>G (p.Glu1169=)
|
rs1555091291
|
|
|
NM_000051.4(ATM):c.3509_3510del (p.Lys1170fs)
|
|
|
|
NM_000051.4(ATM):c.3510dup (p.Gln1171fs)
|
rs876658899
|
|
|
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter)
|
rs876659067
|
|
|
NM_000051.4(ATM):c.3515C>T (p.Ala1172Val)
|
rs2082210652
|
|
|
NM_000051.4(ATM):c.3517_3518del (p.Leu1173fs)
|
|
|
|
NM_000051.4(ATM):c.3519G>C (p.Leu1173Phe)
|
rs1565442034
|
|
|
NM_000051.4(ATM):c.3520_3523del (p.Phe1174fs)
|
rs1394502687
|
|
|
NM_000051.4(ATM):c.3524C>T (p.Ala1175Val)
|
|
|
|
NM_000051.4(ATM):c.3525C>T (p.Ala1175=)
|
|
|
|
NM_000051.4(ATM):c.3526_3527del (p.Leu1176fs)
|
|
|
|
NM_000051.4(ATM):c.3526del (p.Leu1176fs)
|
rs730881302
|
|
|
NM_000051.4(ATM):c.3528G>T (p.Leu1176=)
|
rs748335454
|
|
|
NM_000051.4(ATM):c.352C>T (p.Gln118Ter)
|
rs2079235532
|
|
|
NM_000051.4(ATM):c.3530G>C (p.Cys1177Ser)
|
rs587782470
|
|
|
NM_000051.4(ATM):c.3531T>C (p.Cys1177=)
|
rs876659546
|
|
|
NM_000051.4(ATM):c.3532A>T (p.Lys1178Ter)
|
rs1555091359
|
|
|
NM_000051.4(ATM):c.3536C>A (p.Ser1179Tyr)
|
|
|
|
NM_000051.4(ATM):c.3537T>G (p.Ser1179=)
|
|
|
|
NM_000051.4(ATM):c.3538del (p.Ser1179_Val1180insTer)
|
rs1555091370
|
|
|
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs)
|
rs1555091367
|
|
|
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter)
|
rs1057516981
|
|
|
NM_000051.4(ATM):c.3542_3543del (p.Lys1181fs)
|
rs746598992
|
|
|
NM_000051.4(ATM):c.3543A>G (p.Lys1181=)
|
rs1555091382
|
|
|
NM_000051.4(ATM):c.3546_3547del (p.Asn1183fs)
|
rs768356403
|
|
|
NM_000051.4(ATM):c.3548del (p.Asn1183fs)
|
|
|
|
NM_000051.4(ATM):c.354A>G (p.Gln118=)
|
rs1188306380
|
|
|
NM_000051.4(ATM):c.3551del (p.Gly1184fs)
|
|
|
|
NM_000051.4(ATM):c.3552A>G (p.Gly1184=)
|
|
|
|
NM_000051.4(ATM):c.3564C>T (p.His1188=)
|
|
|
|
NM_000051.4(ATM):c.3565C>T (p.Leu1189Phe)
|
rs370602633
|
|
|
NM_000051.4(ATM):c.3566delinsAC (p.Leu1189fs)
|
|
|
|
NM_000051.4(ATM):c.3567T>A (p.Leu1189=)
|
|
|
|
NM_000051.4(ATM):c.3569T>C (p.Val1190Ala)
|
rs1060501708
|
|
|
NM_000051.4(ATM):c.3569del (p.Val1190fs)
|
|
|
|
NM_000051.4(ATM):c.3573A>G (p.Lys1191=)
|
|
|
|
NM_000051.4(ATM):c.3576+8T>C
|
rs1591637198
|
|
|
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn)
|
rs587776551
|
|
|
NM_000051.4(ATM):c.3576_3576+7del
|
|
|
|
NM_000051.4(ATM):c.3577-10G>C
|
|
|
|
NM_000051.4(ATM):c.3577-11G>C
|
rs2135685988
|
|
|
NM_000051.4(ATM):c.3577-11G>T
|
|
|
|
NM_000051.4(ATM):c.3577-12del
|
rs730881288
|
|
|
NM_000051.4(ATM):c.3577-14T>C
|
rs2082292356
|
|
|
NM_000051.4(ATM):c.3577-15T>C
|
rs1057521733
|
|
|
NM_000051.4(ATM):c.3577-17C>T
|
|
|
|
NM_000051.4(ATM):c.3577-19G>A
|
|
|
|
NM_000051.4(ATM):c.3577-1G>C
|
rs1057517226
|
|
|
NM_000051.4(ATM):c.3577-2A>G
|
rs887358871
|
|
|
NM_000051.4(ATM):c.3577-4G>T
|
rs2135686331
|
|
|
NM_000051.4(ATM):c.3577-6G>C
|
|
|
|
NM_000051.4(ATM):c.3577-6G>T
|
|
|
|
NM_000051.4(ATM):c.3577-8T>C
|
rs1555092222
|
|
|
NM_000051.4(ATM):c.3579T>G (p.Val1193=)
|
rs1555092241
|
|
|
NM_000051.4(ATM):c.3582A>G (p.Leu1194=)
|
rs1591640938
|
|
|
NM_000051.4(ATM):c.3589del (p.Val1197fs)
|
|
|
|
NM_000051.4(ATM):c.3592dup (p.Ser1198fs)
|
|
|
|
NM_000051.4(ATM):c.3594T>C (p.Ser1198=)
|
rs1555092263
|
|
|
NM_000051.4(ATM):c.3596A>G (p.Glu1199Gly)
|
rs876660855
|
|
|
NM_000051.4(ATM):c.3599_3600del (p.Thr1200fs)
|
|
|
|
NM_000051.4(ATM):c.359T>C (p.Leu120Pro)
|
rs1555059081
|
|
|
NM_000051.4(ATM):c.359T>G (p.Leu120Arg)
|
|
|
|
NM_000051.4(ATM):c.3600T>A (p.Thr1200=)
|
|
|
|
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs)
|
rs1057517129
|
|
|
NM_000051.4(ATM):c.3603T>C (p.Phe1201=)
|
rs1591641079
|
|
|
NM_000051.4(ATM):c.3603del (p.Phe1201fs)
|
rs1057517129
|
|
|
NM_000051.4(ATM):c.3605G>C (p.Gly1202Ala)
|
rs1555092285
|
|
|
NM_000051.4(ATM):c.3605del (p.Gly1202fs)
|
|
|
|
NM_000051.4(ATM):c.3607_3620del (p.Tyr1203fs)
|
|
|
|
NM_000051.4(ATM):c.3609T>A (p.Tyr1203Ter)
|
|
|
|
NM_000051.4(ATM):c.3609T>C (p.Tyr1203=)
|
|
|
|
NM_000051.4(ATM):c.3609del (p.Gly1202_Tyr1203insTer)
|
rs1555092297
|
|
|
NM_000051.4(ATM):c.360C>G (p.Leu120=)
|
rs749489010
|
|
|
NM_000051.4(ATM):c.360C>T (p.Leu120=)
|
rs749489010
|
|
|
NM_000051.4(ATM):c.3617T>A (p.Leu1206Ter)
|
|
|
|
NM_000051.4(ATM):c.3617T>G (p.Leu1206Ter)
|
|
|
|
NM_000051.4(ATM):c.3617_3621delinsG (p.Leu1206fs)
|
rs876660783
|
|
|
NM_000051.4(ATM):c.3618A>G (p.Leu1206=)
|
rs786201151
|
|
|
NM_000051.4(ATM):c.3619G>T (p.Glu1207Ter)
|
rs772724024
|
|
|
NM_000051.4(ATM):c.3623dup (p.Asp1208fs)
|
|
|
|
NM_000051.4(ATM):c.3624C>T (p.Asp1208=)
|
|
|
|
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs)
|
rs587782861
|
|
|
NM_000051.4(ATM):c.3627del (p.Phe1209fs)
|
rs587782861
|
|
|
NM_000051.4(ATM):c.362T>A (p.Leu121Ter)
|
rs771342315
|
|
|
NM_000051.4(ATM):c.3631del (p.Ala1211fs)
|
rs1064795885
|
|
|
NM_000051.4(ATM):c.3633A>G (p.Ala1211=)
|
rs2135688329
|
|
|
NM_000051.4(ATM):c.3634del (p.Ser1212fs)
|
|
|
|
NM_000051.4(ATM):c.3636T>C (p.Ser1212=)
|
rs2135688431
|
|
|
NM_000051.4(ATM):c.3636T>G (p.Ser1212=)
|
|
|
|
NM_000051.4(ATM):c.3656dup (p.Leu1219fs)
|
|
|
|
NM_000051.4(ATM):c.3660A>G (p.Glu1220=)
|
rs876660835
|
|
|
NM_000051.4(ATM):c.3665T>C (p.Leu1222Pro)
|
rs863224563
|
|
|
NM_000051.4(ATM):c.3666A>G (p.Leu1222=)
|
|
|
|
NM_000051.4(ATM):c.3672T>C (p.Leu1224=)
|
|
|
|
NM_000051.4(ATM):c.3672T>G (p.Leu1224=)
|
|
|
|
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter)
|
rs1555092430
|
|
|
NM_000051.4(ATM):c.3675A>C (p.Gln1225His)
|
|
|
|
NM_000051.4(ATM):c.3678T>C (p.Asp1226=)
|
rs1591641476
|
|
|
NM_000051.4(ATM):c.3684A>G (p.Glu1228=)
|
|
|
|
NM_000051.4(ATM):c.3687C>A (p.Tyr1229Ter)
|
rs2082303743
|
|
|
NM_000051.4(ATM):c.3687C>T (p.Tyr1229=)
|
rs2082303743
|
|
|
NM_000051.4(ATM):c.368del (p.Tyr123fs)
|
rs730881296
|
|
|
NM_000051.4(ATM):c.3691T>C (p.Leu1231=)
|
rs1210990672
|
|
|
NM_000051.4(ATM):c.3693del (p.Leu1231fs)
|
|
|
|
NM_000051.4(ATM):c.3699_3703del (p.Pro1235fs)
|
rs2082305146
|
|
|
NM_000051.4(ATM):c.3702T>C (p.Phe1234=)
|
|
|
|
NM_000051.4(ATM):c.3708T>C (p.Phe1236=)
|
|
|
|
NM_000051.4(ATM):c.3709A>T (p.Ile1237Phe)
|
rs1555092528
|
|
|
NM_000051.4(ATM):c.370_374del (p.Ile124fs)
|
rs2079237399
|
|
|
NM_000051.4(ATM):c.3712T>C (p.Leu1238=)
|
|
|
|
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)
|
rs786201675
|
|
|
NM_000051.4(ATM):c.3723del (p.Asn1240_Tyr1241insTer)
|
|
|
|
NM_000051.4(ATM):c.372C>T (p.Ile124=)
|
rs773495195
|
|
|
NM_000051.4(ATM):c.3735G>A (p.Glu1245=)
|
rs1565445196
|
|
|
NM_000051.4(ATM):c.3741C>T (p.Phe1247=)
|
rs780396420
|
|
|
NM_000051.4(ATM):c.3744T>C (p.Tyr1248=)
|
rs1555092589
|
|
|
NM_000051.4(ATM):c.3746+1G>T
|
rs2082309297
|
|
|
NM_000051.4(ATM):c.3746+2T>A
|
|
|
|
NM_000051.4(ATM):c.3746+2T>C
|
|
|
|
NM_000051.4(ATM):c.3746+2T>G
|
|
|
|
NM_000051.4(ATM):c.3746+5G>A
|
rs876658419
|
|
|
NM_000051.4(ATM):c.3746+7T>G
|
|
|
|
NM_000051.4(ATM):c.3747-15T>C
|
|
|
|
NM_000051.4(ATM):c.3747-16A>T
|
|
|
|
NM_000051.4(ATM):c.3747-19T>C
|
|
|
|
NM_000051.4(ATM):c.3747-1G>A
|
rs730881364
|
|
|
NM_000051.4(ATM):c.3747-1G>C
|
rs730881364
|
|
|
NM_000051.4(ATM):c.3747-1G>T
|
|
|
|
NM_000051.4(ATM):c.3747-2A>G
|
rs1057517213
|
|
|
NM_000051.4(ATM):c.3747-3dup
|
rs2135703985
|
|
|
NM_000051.4(ATM):c.3747-7T>C
|
rs1057523136
|
|
|
NM_000051.4(ATM):c.3750_3751del (p.Cys1251fs)
|
|
|
|
NM_000051.4(ATM):c.3753T>A (p.Cys1251Ter)
|
|
|
|
NM_000051.4(ATM):c.3753T>C (p.Cys1251=)
|
rs2135704274
|
|
|
NM_000051.4(ATM):c.3754T>C (p.Tyr1252His)
|
rs2135704307
|
|
|
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs)
|
rs786201886
|
|
|
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)
|
rs886039637
|
|
|
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs)
|
rs1555093289
|
|
|
NM_000051.4(ATM):c.3756del (p.Cys1251_Tyr1252insTer)
|
rs2135704461
|
|
|
NM_000051.4(ATM):c.3758_3759del (p.Lys1253fs)
|
rs2135704536
|
|
|
NM_000051.4(ATM):c.3760del (p.Val1254fs)
|
rs786203507
|
|
|
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter)
|
rs2082374257
|
|
|
NM_000051.4(ATM):c.3764dup (p.Leu1255fs)
|
rs1555093303
|
|
|
NM_000051.4(ATM):c.3768T>A (p.Ile1256=)
|
rs765538231
|
|
|
NM_000051.4(ATM):c.3771dup (p.His1258fs)
|
|
|
|
NM_000051.4(ATM):c.3772C>A (p.His1258Asn)
|
rs587782741
|
|
|
NM_000051.4(ATM):c.3778G>A (p.Val1260Met)
|
rs587782035
|
|
|
NM_000051.4(ATM):c.3780dup (p.Ile1261fs)
|
rs786202694
|
|
|
NM_000051.4(ATM):c.3785G>T (p.Arg1262Ile)
|
rs786203618
|
|
|
NM_000051.4(ATM):c.378del (p.Asp126fs)
|
rs587781449
|
|
|
NM_000051.4(ATM):c.3799G>T (p.Glu1267Ter)
|
|
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
|
NM_000051.4(ATM):c.3807G>A (p.Lys1269=)
|
rs2135705663
|
|
|
NM_000051.4(ATM):c.3807_3811del (p.Lys1269fs)
|
|
|
|
NM_000051.4(ATM):c.3810C>T (p.Ser1270=)
|
rs2135705736
|
|
|
NM_000051.4(ATM):c.3810_3813delinsAATGG (p.Ile1271fs)
|
|
|
|
NM_000051.4(ATM):c.3811A>C (p.Ile1271Leu)
|
|
|
|
NM_000051.4(ATM):c.3812T>C (p.Ile1271Thr)
|
rs1308232635
|
|
|
NM_000051.4(ATM):c.3813T>C (p.Ile1271=)
|
rs1057522326
|
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
|
NM_000051.4(ATM):c.3822G>A (p.Gln1274=)
|
|
|
|
NM_000051.4(ATM):c.3825T>C (p.Ile1275=)
|
|
|
|
NM_000051.4(ATM):c.3826C>T (p.Gln1276Ter)
|
|
|
|
NM_000051.4(ATM):c.3828A>G (p.Gln1276=)
|
rs1318728821
|
|
|
NM_000051.4(ATM):c.382del (p.Thr127_Val128insTer)
|
rs2135122447
|
|
|
NM_000051.4(ATM):c.3831G>A (p.Glu1277=)
|
rs587781787
|
|
|
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter)
|
rs587779836
|
|
|
NM_000051.4(ATM):c.3837G>A (p.Trp1279Ter)
|
|
|
|
NM_000051.4(ATM):c.3841A>C (p.Ser1281Arg)
|
|
|
|
NM_000051.4(ATM):c.3841del (p.Ser1281fs)
|
rs886039621
|
|
|
NM_000051.4(ATM):c.3843T>G (p.Ser1281Arg)
|
rs863224565
|
|
|
NM_000051.4(ATM):c.3844C>A (p.Leu1282Ile)
|
rs876660568
|
|
|
NM_000051.4(ATM):c.3846T>C (p.Leu1282=)
|
rs2135706640
|
|
|
NM_000051.4(ATM):c.3847del (p.Leu1282_Leu1283insTer)
|
|
|
|
NM_000051.4(ATM):c.3849A>G (p.Leu1283=)
|
rs1591645848
|
|
|
NM_000051.4(ATM):c.384G>C (p.Val128=)
|
rs1555059177
|
|
|
NM_000051.4(ATM):c.3850del (p.Thr1284fs)
|
rs876660865
|
|
|
NM_000051.4(ATM):c.3851C>T (p.Thr1284Ile)
|
rs1200767902
|
|
|
NM_000051.4(ATM):c.3852A>G (p.Thr1284=)
|
|
|
|
NM_000051.4(ATM):c.3852del (p.Asp1285fs)
|
rs886039605
|
|
|
NM_000051.4(ATM):c.3858C>T (p.Cys1286=)
|
|
|
|
NM_000051.4(ATM):c.3865A>T (p.Lys1289Ter)
|
rs1131691160
|
|
|
NM_000051.4(ATM):c.387del (p.Asp130fs)
|
rs745642834
|
|
|
NM_000051.4(ATM):c.3880dup (p.Ile1294fs)
|
rs1057516541
|
|
|
NM_000051.4(ATM):c.3882T>C (p.Ile1294=)
|
rs1167387894
|
|
|
NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)
|
|
|
|
NM_000051.4(ATM):c.3888T>C (p.Pro1296=)
|
rs1555093582
|
|
|
NM_000051.4(ATM):c.3891T>C (p.Tyr1297=)
|
rs2135707669
|
|
|
NM_000051.4(ATM):c.3894dup (p.Ala1299fs)
|
rs587781823
|
|
|
NM_000051.4(ATM):c.3897C>G (p.Ala1299=)
|
rs760491475
|
|
|
NM_000051.4(ATM):c.3897C>T (p.Ala1299=)
|
rs760491475
|
|
|
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)
|
|
|
|
NM_000051.4(ATM):c.3909C>T (p.Thr1303=)
|
rs1555093618
|
|
|
NM_000051.4(ATM):c.390T>G (p.Asp130Glu)
|
rs1565356801
|
|
|
NM_000051.4(ATM):c.3915C>T (p.Asp1305=)
|
rs1429663437
|
|
|
NM_000051.4(ATM):c.3915_3916del (p.Asp1305fs)
|
|
|
|
NM_000051.4(ATM):c.3916_3917del (p.Ser1306fs)
|
rs2135708324
|
|
|
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)
|
rs568451087
|
|
|
NM_000051.4(ATM):c.3921G>T (p.Gly1307=)
|
|
|
|
NM_000051.4(ATM):c.3925_3926insATGA (p.Ala1309fs)
|
|
|
|
NM_000051.4(ATM):c.3927A>G (p.Ala1309=)
|
rs1555093665
|
|
|
NM_000051.4(ATM):c.3928C>T (p.Gln1310Ter)
|
|
|
|
NM_000051.4(ATM):c.3929del (p.Gln1310fs)
|
|
|
|
NM_000051.4(ATM):c.392C>G (p.Ser131Ter)
|
rs1363726955
|
|
|
NM_000051.4(ATM):c.3930G>A (p.Gln1310=)
|
|
|
|
NM_000051.4(ATM):c.3935dup (p.Glu1313fs)
|
rs876659672
|
|
|
NM_000051.4(ATM):c.3936A>G (p.Arg1312=)
|
|
|
|
NM_000051.4(ATM):c.3937G>T (p.Glu1313Ter)
|
|
|
|
NM_000051.4(ATM):c.3938A>G (p.Glu1313Gly)
|
rs1555093695
|
|
|
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs)
|
rs1555093684
|
|
|
NM_000051.4(ATM):c.3942T>G (p.Thr1314=)
|
|
|
|
NM_000051.4(ATM):c.3948C>T (p.Thr1316=)
|
rs2135709208
|
|
|
NM_000051.4(ATM):c.394T>C (p.Ser132Pro)
|
rs786203851
|
|
|
NM_000051.4(ATM):c.3952G>C (p.Val1318Leu)
|
|
|
|
NM_000051.4(ATM):c.3952del (p.Val1318fs)
|
rs1591646354
|
|
|
NM_000051.4(ATM):c.3953T>G (p.Val1318Gly)
|
rs1565447790
|
|
|
NM_000051.4(ATM):c.3956_3957del (p.Val1318_Tyr1319insTer)
|
|
|
|
NM_000051.4(ATM):c.395C>G (p.Ser132Cys)
|
rs750969764
|
|
|
NM_000051.4(ATM):c.3960T>C (p.Asp1320=)
|
rs995275833
|
|
|
NM_000051.4(ATM):c.3961A>G (p.Met1321Val)
|
rs730881366
|
|
|
NM_000051.4(ATM):c.3963delinsTGTGTATGGGTATGGTATGTGTGTTGCTGGTGAGGGGACTTGCTAAGTATTGTTAACTAATTTTAAATTAAACAAATTTCA (p.Met1321delinsIleValTyrGlyTyrGlyMetCysValAlaGlyGluGlyThrCysTer)
|
|
|
|
NM_000051.4(ATM):c.3964C>T (p.Leu1322Phe)
|
rs144535256
|
|
|
NM_000051.4(ATM):c.3975_3981del (p.Glu1325fs)
|
|
|
|
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter)
|
rs587782192
|
|
|
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe)
|
rs1064794874
|
|
|
NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter)
|
rs2082389962
|
|
|
NM_000051.4(ATM):c.3993+1G>T
|
rs200196781
|
|
|
NM_000051.4(ATM):c.3993+2T>C
|
rs2135710273
|
|
|
NM_000051.4(ATM):c.3993+6G>T
|
rs878853508
|
|
|
NM_000051.4(ATM):c.3993+7C>T
|
|
|
|
NM_000051.4(ATM):c.3993+8T>G
|
|
|
|
NM_000051.4(ATM):c.3993G>C (p.Gln1331His)
|
rs863224566
|
|
|
NM_000051.4(ATM):c.3994-12G>A
|
rs1057520398
|
|
|
NM_000051.4(ATM):c.3994-12G>C
|
|
|
|
NM_000051.4(ATM):c.3994-12G>T
|
rs1057520398
|
|
|
NM_000051.4(ATM):c.3994-1G>A
|
|
|
|
NM_000051.4(ATM):c.3994-1G>C
|
|
|
|
NM_000051.4(ATM):c.3994-1G>T
|
rs1057516238
|
|
|
NM_000051.4(ATM):c.3994-2A>C
|
rs587782276
|
|
|
NM_000051.4(ATM):c.3994-2A>T
|
|
|
|
NM_000051.4(ATM):c.3994-4G>C
|
rs1060504259
|
|
|
NM_000051.4(ATM):c.3994-8C>T
|
rs2135734775
|
|
|
NM_000051.4(ATM):c.3994-9C>T
|
rs767111803
|
|
|
NM_000051.4(ATM):c.3996T>C (p.Ile1332=)
|
rs1180449859
|
|
|
NM_000051.4(ATM):c.399T>C (p.Asn133=)
|
|
|
|
NM_000051.4(ATM):c.3G>C (p.Met1Ile)
|
|
|
|
NM_000051.4(ATM):c.4000_4006del (p.His1334fs)
|
rs2135735093
|
|
|
NM_000051.4(ATM):c.4002C>T (p.His1334=)
|
rs876659622
|
|
|
NM_000051.4(ATM):c.4002_4005del (p.Leu1335fs)
|
|
|
|
NM_000051.4(ATM):c.4003_4004del (p.Leu1335fs)
|
|
|
|
NM_000051.4(ATM):c.4004T>G (p.Leu1335Ter)
|
|
|
|
NM_000051.4(ATM):c.4006T>C (p.Phe1336Leu)
|
rs1565452452
|
|
|
NM_000051.4(ATM):c.4011T>C (p.Ile1337=)
|
|
|
|
NM_000051.4(ATM):c.4017T>C (p.Asn1339=)
|
|
|
|
NM_000051.4(ATM):c.4018T>C (p.Leu1340=)
|
rs1057522187
|
|
|
NM_000051.4(ATM):c.4019T>A (p.Leu1340Ter)
|
rs2082559544
|
|
|
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)
|
rs1057517140
|
|
|
NM_000051.4(ATM):c.4020A>G (p.Leu1340=)
|
rs1555095888
|
|
|
NM_000051.4(ATM):c.4029T>A (p.Ile1343=)
|
|
|
|
NM_000051.4(ATM):c.4036G>T (p.Glu1346Ter)
|
rs1060501528
|
|
|
NM_000051.4(ATM):c.4038G>A (p.Glu1346=)
|
rs1591655790
|
|
|
NM_000051.4(ATM):c.4044G>A (p.Leu1348=)
|
|
|
|
NM_000051.4(ATM):c.4050G>C (p.Thr1350=)
|
|
|
|
NM_000051.4(ATM):c.4050G>T (p.Thr1350=)
|
|
|
|
NM_000051.4(ATM):c.4052del (p.Leu1351fs)
|
rs786202350
|
|
|
NM_000051.4(ATM):c.4053A>G (p.Leu1351=)
|
rs1565452695
|
|
|
NM_000051.4(ATM):c.4056_4065del (p.His1352fs)
|
rs1555095955
|
|
|
NM_000051.4(ATM):c.405T>C (p.Ala135=)
|
|
|
|
NM_000051.4(ATM):c.405T>G (p.Ala135=)
|
rs2135123254
|
|
|
NM_000051.4(ATM):c.4065A>G (p.Ala1355=)
|
|
|
|
NM_000051.4(ATM):c.4066_4072delinsTGTCAGTAACACTAGTTACT (p.Asn1356_Ser1358delinsCysGlnTer)
|
|
|
|
NM_000051.4(ATM):c.4070del (p.Ser1357fs)
|
|
|
|
NM_000051.4(ATM):c.4077C>G (p.Ala1359=)
|
rs375606854
|
|
|
NM_000051.4(ATM):c.4077C>T (p.Ala1359=)
|
|
|
|
NM_000051.4(ATM):c.4081C>T (p.Gln1361Ter)
|
rs121434222
|
|
|
NM_000051.4(ATM):c.4083G>A (p.Gln1361=)
|
rs863224570
|
|
|
NM_000051.4(ATM):c.4088C>T (p.Thr1363Ile)
|
|
|
|
NM_000051.4(ATM):c.408T>A (p.Ile136=)
|
rs2135123307
|
|
|
NM_000051.4(ATM):c.4092C>A (p.Asp1364Glu)
|
rs876660956
|
|
|
NM_000051.4(ATM):c.4092C>T (p.Asp1364=)
|
rs876660956
|
|
|
NM_000051.4(ATM):c.4093del (p.Leu1365fs)
|
rs2135737651
|
|
|
NM_000051.4(ATM):c.4095_4096del (p.Leu1365_Cys1366insTer)
|
rs1555096057
|
|
|
NM_000051.4(ATM):c.4095_4096insCT (p.Cys1366fs)
|
|
|
|
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer)
|
rs876658248
|
|
|
NM_000051.4(ATM):c.4102T>A (p.Phe1368Ile)
|
|
|
|
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)
|
rs879254189
|
|
|
NM_000051.4(ATM):c.4106C>G (p.Ser1369Ter)
|
|
|
|
NM_000051.4(ATM):c.4107del (p.Asp1371fs)
|
|
|
|
NM_000051.4(ATM):c.4109+10T>A
|
rs1236628481
|
|
|
NM_000051.4(ATM):c.4109+1G>T
|
rs879254034
|
|
|
NM_000051.4(ATM):c.4109+2T>C
|
|
|
|
NM_000051.4(ATM):c.4109+4T>A
|
|
|
|
NM_000051.4(ATM):c.4109+6T>G
|
rs368606937
|
|
|
NM_000051.4(ATM):c.4109+7A>G
|
rs2135738309
|
|
|
NM_000051.4(ATM):c.4109+8C>A
|
rs1591656404
|
|
|
NM_000051.4(ATM):c.4109+8C>T
|
rs1591656404
|
|
|
NM_000051.4(ATM):c.4109+9A>T
|
|
|
|
NM_000051.4(ATM):c.4110-11A>G
|
|
|
|
NM_000051.4(ATM):c.4110-11A>T
|
rs760715107
|
|
|
NM_000051.4(ATM):c.4110-14C>T
|
|
|
|
NM_000051.4(ATM):c.4110-17dup
|
rs2082636307
|
|
|
NM_000051.4(ATM):c.4110-18T>C
|
rs1057523967
|
|
|
NM_000051.4(ATM):c.4110-19_4115del
|
|
|
|
NM_000051.4(ATM):c.4110-1G>A
|
rs1060501692
|
|
|
NM_000051.4(ATM):c.4110-1G>C
|
rs1060501692
|
|
|
NM_000051.4(ATM):c.4110-2A>G
|
rs2135750262
|
|
|
NM_000051.4(ATM):c.4110-3del
|
|
|
|
NM_000051.4(ATM):c.4110-7C>T
|
|
|
|
NM_000051.4(ATM):c.4110-7_4110-6del
|
|
|
|
NM_000051.4(ATM):c.4110-9C>G
|
rs730881367
|
|
|
NM_000051.4(ATM):c.4110-9C>T
|
rs730881367
|
|
|
NM_000051.4(ATM):c.4111del
|
rs797045114
|
|
|
NM_000051.4(ATM):c.4113T>C (p.Asp1371=)
|
|
|
|
NM_000051.4(ATM):c.4115del (p.Leu1372fs)
|
rs2082638431
|
|
|
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter)
|
rs756160533
|
|
|
NM_000051.4(ATM):c.4125T>A (p.Ala1375=)
|
rs1555096804
|
|
|
NM_000051.4(ATM):c.4128T>C (p.Pro1376=)
|
|
|
|
NM_000051.4(ATM):c.4128T>G (p.Pro1376=)
|
rs2135750893
|
|
|
NM_000051.4(ATM):c.4131T>C (p.Asn1377=)
|
rs2082639582
|
|
|
NM_000051.4(ATM):c.4137T>C (p.Pro1379=)
|
|
|
|
NM_000051.4(ATM):c.4143dup (p.Pro1382fs)
|
rs730881309
|
|
|
NM_000051.4(ATM):c.4146A>C (p.Pro1382=)
|
|
|
|
NM_000051.4(ATM):c.4146del (p.Ser1383fs)
|
|
|
|
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)
|
rs141087784
|
|
|
NM_000051.4(ATM):c.4149G>C (p.Ser1383=)
|
|
|
|
NM_000051.4(ATM):c.4149G>T (p.Ser1383=)
|
rs749180334
|
|
|
NM_000051.4(ATM):c.4150C>A (p.His1384Asn)
|
rs876660576
|
|
|
NM_000051.4(ATM):c.4150C>T (p.His1384Tyr)
|
rs876660576
|
|
|
NM_000051.4(ATM):c.4152T>C (p.His1384=)
|
rs1555096888
|
|
|
NM_000051.4(ATM):c.4153G>A (p.Val1385Met)
|
|
|
|
NM_000051.4(ATM):c.4155G>A (p.Val1385=)
|
rs2082641997
|
|
|
NM_000051.4(ATM):c.4155G>T (p.Val1385=)
|
|
|
|
NM_000051.4(ATM):c.4156A>G (p.Ile1386Val)
|
rs1555096895
|
|
|
NM_000051.4(ATM):c.4158dup (p.Lys1387Ter)
|
|
|
|
NM_000051.4(ATM):c.4159A>T (p.Lys1387Ter)
|
|
|
|
NM_000051.4(ATM):c.4161dup (p.Ala1388fs)
|
|
|
|
NM_000051.4(ATM):c.4162G>A (p.Ala1388Thr)
|
rs1555096903
|
|
|
NM_000051.4(ATM):c.4163C>G (p.Ala1388Gly)
|
rs1555096908
|
|
|
NM_000051.4(ATM):c.4164A>G (p.Ala1388=)
|
|
|
|
NM_000051.4(ATM):c.4173C>G (p.Ala1391=)
|
rs1060504284
|
|
|
NM_000051.4(ATM):c.4173C>T (p.Ala1391=)
|
rs1060504284
|
|
|
NM_000051.4(ATM):c.4179C>A (p.Ile1393=)
|
rs775688446
|
|
|
NM_000051.4(ATM):c.4179C>T (p.Ile1393=)
|
rs775688446
|
|
|
NM_000051.4(ATM):c.417del (p.Asp140fs)
|
|
|
|
NM_000051.4(ATM):c.4185T>C (p.Asn1395=)
|
rs2135752553
|
|
|
NM_000051.4(ATM):c.4188T>A (p.Cys1396Ter)
|
|
|
|
NM_000051.4(ATM):c.4189dup (p.His1397fs)
|
rs2082644891
|
|
|
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser)
|
rs786203761
|
|
|
NM_000051.4(ATM):c.4200G>A (p.Lys1400=)
|
|
|
|
NM_000051.4(ATM):c.4201T>C (p.Leu1401=)
|
|
|
|
NM_000051.4(ATM):c.4202T>A (p.Leu1401Ter)
|
rs1555096975
|
|
|
NM_000051.4(ATM):c.4207A>G (p.Ser1403Gly)
|
rs768726324
|
|
|
NM_000051.4(ATM):c.4209C>T (p.Ser1403=)
|
rs876658701
|
|
|
NM_000051.4(ATM):c.420T>C (p.Asp140=)
|
rs1591475108
|
|
|
NM_000051.4(ATM):c.4210del (p.Ile1404fs)
|
|
|
|
NM_000051.4(ATM):c.4213T>C (p.Leu1405=)
|
|
|
|
NM_000051.4(ATM):c.4214T>G (p.Leu1405Ter)
|
|
|
|
NM_000051.4(ATM):c.4215A>G (p.Leu1405=)
|
|
|
|
NM_000051.4(ATM):c.4219del (p.Ile1407fs)
|
|
|
|
NM_000051.4(ATM):c.4220T>C (p.Ile1407Thr)
|
|
|
|
NM_000051.4(ATM):c.4227C>G (p.Ser1409=)
|
rs1555097018
|
|
|
NM_000051.4(ATM):c.4227del (p.Ser1411fs)
|
rs587782054
|
|
|
NM_000051.4(ATM):c.4231_4232del (p.Ser1411fs)
|
|
|
|
NM_000051.4(ATM):c.4236+1G>A
|
|
|
|
NM_000051.4(ATM):c.4236+1G>T
|
rs876660674
|
|
|
NM_000051.4(ATM):c.4236+1_4236+2del
|
rs2135753954
|
|
|
NM_000051.4(ATM):c.4236+2T>C
|
|
|
|
NM_000051.4(ATM):c.4236+2_4236+3dup
|
|
|
|
NM_000051.4(ATM):c.4236del (p.Asp1413fs)
|
rs1565455297
|
|
|
NM_000051.4(ATM):c.4237-10T>C
|
rs1312684854
|
|
|
NM_000051.4(ATM):c.4237-10dup
|
|
|
|
NM_000051.4(ATM):c.4237-13_4237-12del
|
rs1555097353
|
|
|
NM_000051.4(ATM):c.4237-14T>C
|
|
|
|
NM_000051.4(ATM):c.4237-18A>C
|
rs756842639
|
|
|
NM_000051.4(ATM):c.4237-18A>T
|
|
|
|
NM_000051.4(ATM):c.4237-19A>C
|
rs753311330
|
|
|
NM_000051.4(ATM):c.4237-19A>G
|
rs753311330
|
|
|
NM_000051.4(ATM):c.4237-20T>C
|
rs2135758679
|
|
|
NM_000051.4(ATM):c.4237-2A>G
|
rs1591662492
|
|
|
NM_000051.4(ATM):c.4237-3T>C
|
|
|
|
NM_000051.4(ATM):c.4237-4del
|
|
|
|
NM_000051.4(ATM):c.4237-5T>C
|
|
|
|
NM_000051.4(ATM):c.4239T>C (p.Asp1413=)
|
rs1565455938
|
|
|
NM_000051.4(ATM):c.4242C>T (p.Ser1414=)
|
rs2135759239
|
|
|
NM_000051.4(ATM):c.4242del (p.Tyr1415fs)
|
|
|
|
NM_000051.4(ATM):c.4244A>G (p.Tyr1415Cys)
|
rs876660540
|
|
|
NM_000051.4(ATM):c.4248G>A (p.Gln1416=)
|
rs1233637041
|
|
|
NM_000051.4(ATM):c.4249A>T (p.Lys1417Ter)
|
rs1591662598
|
|
|
NM_000051.4(ATM):c.4252_4259dup (p.Ala1421fs)
|
rs1591662606
|
|
|
NM_000051.4(ATM):c.4255CTT[1] (p.Leu1420del)
|
rs876659842
|
|
|
NM_000051.4(ATM):c.4258_4259del (p.Leu1420fs)
|
|
|
|
NM_000051.4(ATM):c.4263C>T (p.Ala1421=)
|
rs1373073134
|
|
|
NM_000051.4(ATM):c.4264A>G (p.Ile1422Val)
|
rs562445932
|
|
|
NM_000051.4(ATM):c.4265T>C (p.Ile1422Thr)
|
rs876659764
|
|
|
NM_000051.4(ATM):c.4267T>A (p.Cys1423Ser)
|
rs587782442
|
|
|
NM_000051.4(ATM):c.4269T>C (p.Cys1423=)
|
|
|
|
NM_000051.4(ATM):c.4273C>T (p.Gln1425Ter)
|
|
|
|
NM_000051.4(ATM):c.4275A>G (p.Gln1425=)
|
|
|
|
NM_000051.4(ATM):c.4281T>C (p.Ala1427=)
|
rs876659745
|
|
|
NM_000051.4(ATM):c.4282G>A (p.Glu1428Lys)
|
rs1369272813
|
|
|
NM_000051.4(ATM):c.4287A>C (p.Thr1429=)
|
rs1591662793
|
|
|
NM_000051.4(ATM):c.4289_4292del (p.Asn1430fs)
|
rs2135760623
|
|
|
NM_000051.4(ATM):c.4290T>C (p.Asn1430=)
|
rs1431970078
|
|
|
NM_000051.4(ATM):c.4293T>C (p.Asn1431=)
|
|
|
|
NM_000051.4(ATM):c.4299_4300del (p.Tyr1433_Lys1434delinsTer)
|
|
|
|
NM_000051.4(ATM):c.429C>T (p.Asn143=)
|
rs1416280463
|
|
|
NM_000051.4(ATM):c.4301A>G (p.Lys1434Arg)
|
|
|
|
NM_000051.4(ATM):c.4303A>T (p.Lys1435Ter)
|
rs876660964
|
|
|
NM_000051.4(ATM):c.4308C>T (p.His1436=)
|
rs1591662977
|
|
|
NM_000051.4(ATM):c.4311A>G (p.Arg1437=)
|
rs1555097507
|
|
|
NM_000051.4(ATM):c.4317T>G (p.Leu1439=)
|
rs2135761736
|
|
|
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)
|
rs1060501551
|
|
|
NM_000051.4(ATM):c.4320A>G (p.Lys1440=)
|
|
|
|
NM_000051.4(ATM):c.4321A>G (p.Ile1441Val)
|
rs774886013
|
|
|
NM_000051.4(ATM):c.4323A>T (p.Ile1441=)
|
rs587779839
|
|
|
NM_000051.4(ATM):c.4325_4326dup (p.His1443fs)
|
|
|
|
NM_000051.4(ATM):c.4327C>T (p.His1443Tyr)
|
rs1555097538
|
|
|
NM_000051.4(ATM):c.4330C>T (p.Leu1444=)
|
rs2135762205
|
|
|
NM_000051.4(ATM):c.4330_4333delinsTAAAATAAA (p.Leu1444_Phe1445delinsTer)
|
rs1064792938
|
|
|
NM_000051.4(ATM):c.4332G>C (p.Leu1444=)
|
rs753570046
|
|
|
NM_000051.4(ATM):c.4335T>C (p.Phe1445=)
|
rs761225071
|
|
|
NM_000051.4(ATM):c.4335_4338del (p.Phe1445fs)
|
rs2135762355
|
|
|
NM_000051.4(ATM):c.4336G>T (p.Val1446Phe)
|
rs1060501658
|
|
|
NM_000051.4(ATM):c.4341T>C (p.Ser1447=)
|
rs1565456454
|
|
|
NM_000051.4(ATM):c.4343T>A (p.Leu1448Ter)
|
rs1591663285
|
|
|
NM_000051.4(ATM):c.4344dup (p.Leu1449fs)
|
rs1555097604
|
|
|
NM_000051.4(ATM):c.4350G>A (p.Leu1450=)
|
rs1565456541
|
|
|
NM_000051.4(ATM):c.4353dup (p.Asp1452fs)
|
|
|
|
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr)
|
rs587782126
|
|
|
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)
|
rs1555097650
|
|
|
NM_000051.4(ATM):c.4358del (p.Ile1453fs)
|
rs2082679287
|
|
|
NM_000051.4(ATM):c.435A>G (p.Leu145=)
|
rs775476710
|
|
|
NM_000051.4(ATM):c.4361A>G (p.Lys1454Arg)
|
rs1451928082
|
|
|
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)
|
rs373226793
|
|
|
NM_000051.4(ATM):c.4373del (p.Gly1458fs)
|
rs587781653
|
|
|
NM_000051.4(ATM):c.4374A>G (p.Gly1458=)
|
|
|
|
NM_000051.4(ATM):c.4378G>T (p.Ala1460Ser)
|
rs1060501675
|
|
|
NM_000051.4(ATM):c.4379C>T (p.Ala1460Val)
|
rs376165779
|
|
|
NM_000051.4(ATM):c.4381T>G (p.Trp1461Gly)
|
rs982008501
|
|
|
NM_000051.4(ATM):c.4383G>A (p.Trp1461Ter)
|
rs1294578913
|
|
|
NM_000051.4(ATM):c.4386C>A (p.Ala1462=)
|
rs1433672958
|
|
|
NM_000051.4(ATM):c.4386C>T (p.Ala1462=)
|
rs1433672958
|
|
|
NM_000051.4(ATM):c.4389T>C (p.Phe1463=)
|
rs1555097753
|
|
|
NM_000051.4(ATM):c.4389del (p.Phe1463fs)
|
|
|
|
NM_000051.4(ATM):c.438C>G (p.Leu146=)
|
rs1591475272
|
|
|
NM_000051.4(ATM):c.438C>T (p.Leu146=)
|
rs1591475272
|
|
|
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)
|
rs730881391
|
|
|
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)
|
rs730881369
|
|
|
NM_000051.4(ATM):c.4397G>A (p.Arg1466Gln)
|
rs749770110
|
|
|
NM_000051.4(ATM):c.4397G>C (p.Arg1466Pro)
|
rs749770110
|
|
|
NM_000051.4(ATM):c.4398A>T (p.Arg1466=)
|
rs142728382
|
|
|
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer)
|
rs771887195
|
|
|
NM_000051.4(ATM):c.4400A>G (p.Asp1467Gly)
|
rs730881392
|
|
|
NM_000051.4(ATM):c.4404T>C (p.Val1468=)
|
rs1555097801
|
|
|
NM_000051.4(ATM):c.4410T>C (p.Tyr1470=)
|
rs1057521912
|
|
|
NM_000051.4(ATM):c.4411A>G (p.Thr1471Ala)
|
rs2082684549
|
|
|
NM_000051.4(ATM):c.4414_4423del (p.Leu1472fs)
|
|
|
|
NM_000051.4(ATM):c.4415T>A (p.Leu1472Ter)
|
rs772555314
|
|
|
NM_000051.4(ATM):c.4416G>A (p.Leu1472=)
|
rs201526888
|
|
|
NM_000051.4(ATM):c.441A>G (p.Lys147=)
|
rs1555059372
|
|
|
NM_000051.4(ATM):c.441dup (p.Asp148fs)
|
rs1427164968
|
|
|
NM_000051.4(ATM):c.4421_4432delinsCAACT (p.His1474fs)
|
|
|
|
NM_000051.4(ATM):c.4422C>T (p.His1474=)
|
rs1555097849
|
|
|
NM_000051.4(ATM):c.4426_4436+14del
|
|
|
|
NM_000051.4(ATM):c.4428C>G (p.Ile1476Met)
|
rs876659370
|
|
|
NM_000051.4(ATM):c.4428C>T (p.Ile1476=)
|
|
|
|
NM_000051.4(ATM):c.4430dup (p.Asn1477fs)
|
|
|
|
NM_000051.4(ATM):c.4431C>T (p.Asn1477=)
|
rs571989748
|
|
|
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter)
|
rs1368412801
|
|
|
NM_000051.4(ATM):c.4436+1G>A
|
rs1555097894
|
|
|
NM_000051.4(ATM):c.4436+1G>T
|
rs1555097894
|
|
|
NM_000051.4(ATM):c.4436+5A>G
|
rs2082687178
|
|
|
NM_000051.4(ATM):c.4436+7A>C
|
|
|
|
NM_000051.4(ATM):c.4436+7A>G
|
rs749971237
|
|
|
NM_000051.4(ATM):c.4436+8A>G
|
|
|
|
NM_000051.4(ATM):c.4436+8del
|
rs1591664120
|
|
|
NM_000051.4(ATM):c.4436+9C>T
|
rs1565457090
|
|
|
NM_000051.4(ATM):c.4437-10C>T
|
rs1397770130
|
|
|
NM_000051.4(ATM):c.4437-13C>T
|
rs769462032
|
|
|
NM_000051.4(ATM):c.4437-14del
|
rs730881290
|
|
|
NM_000051.4(ATM):c.4437-14dup
|
rs730881290
|
|
|
NM_000051.4(ATM):c.4437-15T>C
|
|
|
|
NM_000051.4(ATM):c.4437-16T>C
|
|
|
|
NM_000051.4(ATM):c.4437-3T>C
|
rs1555099722
|
|
|
NM_000051.4(ATM):c.4437-5A>G
|
rs876658290
|
|
|
NM_000051.4(ATM):c.4437-7A>C
|
rs370354306
|
|
|
NM_000051.4(ATM):c.4437-8T>C
|
|
|
|
NM_000051.4(ATM):c.4439CTT[1] (p.Ser1481del)
|
rs786202338
|
|
|
NM_000051.4(ATM):c.4440_4441delinsGC (p.Ser1481Pro)
|
rs1064793037
|
|
|
NM_000051.4(ATM):c.4441T>C (p.Ser1481Pro)
|
rs2135797205
|
|
|
NM_000051.4(ATM):c.4442C>G (p.Ser1481Cys)
|
|
|
|
NM_000051.4(ATM):c.4443T>C (p.Ser1481=)
|
rs2135797265
|
|
|
NM_000051.4(ATM):c.4446T>C (p.Cys1482=)
|
|
|
|
NM_000051.4(ATM):c.444C>T (p.Asp148=)
|
|
|
|
NM_000051.4(ATM):c.4451T>C (p.Met1484Thr)
|
rs786203785
|
|
|
NM_000051.4(ATM):c.4451del (p.Met1484fs)
|
rs1555099760
|
|
|
NM_000051.4(ATM):c.4455T>C (p.Asp1485=)
|
|
|
|
NM_000051.4(ATM):c.4458G>A (p.Val1486=)
|
rs1591673788
|
|
|
NM_000051.4(ATM):c.4458G>T (p.Val1486=)
|
rs1591673788
|
|
|
NM_000051.4(ATM):c.445A>G (p.Ile149Val)
|
rs1565357194
|
|
|
NM_000051.4(ATM):c.445A>T (p.Ile149Phe)
|
rs1565357194
|
|
|
NM_000051.4(ATM):c.4462T>C (p.Leu1488=)
|
rs1591673809
|
|
|
NM_000051.4(ATM):c.4463T>G (p.Leu1488Ter)
|
|
|
|
NM_000051.4(ATM):c.4465dup (p.Arg1489fs)
|
|
|
|
NM_000051.4(ATM):c.4470C>T (p.Ser1490=)
|
rs2135798259
|
|
|
NM_000051.4(ATM):c.4473del (p.Ser1492fs)
|
|
|
|
NM_000051.4(ATM):c.4475C>G (p.Ser1492Cys)
|
|
|
|
NM_000051.4(ATM):c.4480T>C (p.Cys1494Arg)
|
rs1060501576
|
|
|
NM_000051.4(ATM):c.4486G>C (p.Asp1496His)
|
|
|
|
NM_000051.4(ATM):c.4488C>T (p.Asp1496=)
|
rs772833802
|
|
|
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
|
|
|
|
NM_000051.4(ATM):c.4493T>G (p.Leu1498Ter)
|
rs1329359780
|
|
|
NM_000051.4(ATM):c.4493_4497del (p.Leu1498fs)
|
|
|
|
NM_000051.4(ATM):c.4494A>C (p.Leu1498Phe)
|
rs1064793476
|
|
|
NM_000051.4(ATM):c.4495_4496insTAAA (p.Ser1499fs)
|
|
|
|
NM_000051.4(ATM):c.4497T>C (p.Ser1499=)
|
|
|
|
NM_000051.4(ATM):c.4498C>T (p.Gln1500Ter)
|
|
|
|
NM_000051.4(ATM):c.4499A>G (p.Gln1500Arg)
|
rs786203789
|
|
|
NM_000051.4(ATM):c.4506C>T (p.Cys1502=)
|
rs876659908
|
|
|
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer)
|
rs771936821
|
|
|
NM_000051.4(ATM):c.4515C>G (p.Ala1505=)
|
rs540798997
|
|
|
NM_000051.4(ATM):c.4516G>A (p.Val1506Met)
|
rs760542469
|
|
|
NM_000051.4(ATM):c.4517T>C (p.Val1506Ala)
|
rs1555099878
|
|
|
NM_000051.4(ATM):c.4518G>C (p.Val1506=)
|
rs1057524110
|
|
|
NM_000051.4(ATM):c.4521T>G (p.Thr1507=)
|
rs1555099885
|
|
|
NM_000051.4(ATM):c.4524C>A (p.Tyr1508Ter)
|
rs1555099892
|
|
|
NM_000051.4(ATM):c.4533T>C (p.Asp1511=)
|
|
|
|
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr)
|
rs1060501653
|
|
|
NM_000051.4(ATM):c.4536T>A (p.Ala1512=)
|
|
|
|
NM_000051.4(ATM):c.4536T>C (p.Ala1512=)
|
rs1555099909
|
|
|
NM_000051.4(ATM):c.4537C>T (p.Leu1513=)
|
rs2082867393
|
|
|
NM_000051.4(ATM):c.4545C>T (p.Asn1515=)
|
rs764039368
|
|
|
NM_000051.4(ATM):c.4551T>C (p.Leu1517=)
|
rs1459998980
|
|
|
NM_000051.4(ATM):c.4553A>G (p.His1518Arg)
|
rs762132832
|
|
|
NM_000051.4(ATM):c.4555G>C (p.Val1519Leu)
|
rs969120822
|
|
|
NM_000051.4(ATM):c.4564G>A (p.Gly1522Ser)
|
rs1064795495
|
|
|
NM_000051.4(ATM):c.4569A>C (p.Thr1523=)
|
rs1555099963
|
|
|
NM_000051.4(ATM):c.4572dup (p.Ile1525fs)
|
|
|
|
NM_000051.4(ATM):c.4573dup (p.Ile1525fs)
|
|
|
|
NM_000051.4(ATM):c.4575_4578delinsTCCT (p.Ile1525_Pro1526=)
|
|
|
|
NM_000051.4(ATM):c.4575dup (p.Pro1526fs)
|
rs2135801723
|
|
|
NM_000051.4(ATM):c.4576_4577insT (p.Pro1526fs)
|
rs1591674707
|
|
|
NM_000051.4(ATM):c.4579C>G (p.Leu1527Val)
|
rs1555099997
|
|
|
NM_000051.4(ATM):c.4584G>A (p.Val1528=)
|
rs1555100000
|
|
|
NM_000051.4(ATM):c.4584G>T (p.Val1528=)
|
rs1555100000
|
|
|
NM_000051.4(ATM):c.4586A>G (p.Tyr1529Cys)
|
rs1365089723
|
|
|
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter)
|
rs1555100005
|
|
|
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter)
|
rs864622479
|
|
|
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)
|
rs2082872908
|
|
|
NM_000051.4(ATM):c.4592del (p.Gln1531fs)
|
|
|
|
NM_000051.4(ATM):c.4593G>A (p.Gln1531=)
|
rs1591674814
|
|
|
NM_000051.4(ATM):c.4594del (p.Val1532fs)
|
|
|
|
NM_000051.4(ATM):c.4599G>A (p.Glu1533=)
|
rs1274454004
|
|
|
NM_000051.4(ATM):c.459A>G (p.Arg153=)
|
rs2135125274
|
|
|
NM_000051.4(ATM):c.45A>G (p.Leu15=)
|
|
|
|
NM_000051.4(ATM):c.4600_4605del (p.Val1534_Gln1535del)
|
rs768183241
|
|
|
NM_000051.4(ATM):c.4603del (p.Gln1535fs)
|
|
|
|
NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter)
|
rs1555100037
|
|
|
NM_000051.4(ATM):c.4610_4611del (p.Gln1537fs)
|
|
|
|
NM_000051.4(ATM):c.4611+1del
|
rs1565461824
|
|
|
NM_000051.4(ATM):c.4611+3A>G
|
rs2082874444
|
|
|
NM_000051.4(ATM):c.4611+8T>C
|
rs1057522426
|
|
|
NM_000051.4(ATM):c.4611+8T>G
|
rs1057522426
|
|
|
NM_000051.4(ATM):c.4611+9del
|
|
|
|
NM_000051.4(ATM):c.4611_4611+9del
|
rs780969040
|
|
|
NM_000051.4(ATM):c.4612-11del
|
|
|
|
NM_000051.4(ATM):c.4612-18T>C
|
|
|
|
NM_000051.4(ATM):c.4612-2A>C
|
rs1555100347
|
|
|
NM_000051.4(ATM):c.4612-3_4616del
|
rs773012957
|
|
|
NM_000051.4(ATM):c.4612-5T>C
|
|
|
|
NM_000051.4(ATM):c.4612-8A>G
|
rs1555100341
|
|
|
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu)
|
rs1034235291
|
|
|
NM_000051.4(ATM):c.4612_4621del (p.Val1538fs)
|
|
|
|
NM_000051.4(ATM):c.4614A>G (p.Val1538=)
|
|
|
|
NM_000051.4(ATM):c.4617G>A (p.Leu1539=)
|
rs1179885415
|
|
|
NM_000051.4(ATM):c.4620C>T (p.Asp1540=)
|
rs1329153013
|
|
|
NM_000051.4(ATM):c.4622T>A (p.Leu1541Ter)
|
|
|
|
NM_000051.4(ATM):c.4622del (p.Leu1541fs)
|
rs2135809766
|
|
|
NM_000051.4(ATM):c.4624T>C (p.Leu1542=)
|
rs876658826
|
|
|
NM_000051.4(ATM):c.4625dup (p.Leu1542fs)
|
rs730881304
|
|
|
NM_000051.4(ATM):c.462A>G (p.Lys154=)
|
rs876659923
|
|
|
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer)
|
rs1064794236
|
|
|
NM_000051.4(ATM):c.4638G>A (p.Val1546=)
|
|
|
|
NM_000051.4(ATM):c.4638G>T (p.Val1546=)
|
|
|
|
NM_000051.4(ATM):c.4639A>G (p.Ile1547Val)
|
rs537377433
|
|
|
NM_000051.4(ATM):c.4642_4645del (p.Asp1548fs)
|
rs876659535
|
|
|
NM_000051.4(ATM):c.4643A>T (p.Asp1548Val)
|
rs1448017467
|
|
|
NM_000051.4(ATM):c.4645A>G (p.Asn1549Asp)
|
|
|
|
NM_000051.4(ATM):c.4650G>A (p.Lys1550=)
|
|
|
|
NM_000051.4(ATM):c.4656T>C (p.Asn1552=)
|
rs876658379
|
|
|
NM_000051.4(ATM):c.465C>A (p.Tyr155Ter)
|
|
|
|
NM_000051.4(ATM):c.4661del (p.Asn1554fs)
|
rs1064793390
|
|
|
NM_000051.4(ATM):c.4664T>C (p.Leu1555Pro)
|
rs1060501524
|
|
|
NM_000051.4(ATM):c.4664_4665insATATATCTATATATAGGTTTTAGATCCTATATCTATATCTATATAGGATCTAAAAG (p.Ile1557_Thr1558insTyrIleTerTyrIle)
|
|
|
|
NM_000051.4(ATM):c.4664del (p.Leu1555fs)
|
rs876659039
|
|
|
NM_000051.4(ATM):c.4665_4666del (p.Ile1557fs)
|
|
|
|
NM_000051.4(ATM):c.4668T>A (p.Tyr1556Ter)
|
rs766438805
|
|
|
NM_000051.4(ATM):c.4668T>C (p.Tyr1556=)
|
rs766438805
|
|
|
NM_000051.4(ATM):c.4671C>G (p.Ile1557Met)
|
rs966733287
|
|
|
NM_000051.4(ATM):c.4674G>T (p.Thr1558=)
|
|
|
|
NM_000051.4(ATM):c.4677T>C (p.Ile1559=)
|
rs759660081
|
|
|
NM_000051.4(ATM):c.467G>A (p.Trp156Ter)
|
rs876658159
|
|
|
NM_000051.4(ATM):c.467G>C (p.Trp156Ser)
|
rs876658159
|
|
|
NM_000051.4(ATM):c.4680del (p.Lys1560fs)
|
|
|
|
NM_000051.4(ATM):c.468G>A (p.Trp156Ter)
|
rs1591475457
|
|
|
NM_000051.4(ATM):c.468del (p.Trp156fs)
|
rs2079245902
|
|
|
NM_000051.4(ATM):c.4691del (p.Pro1564fs)
|
|
|
|
NM_000051.4(ATM):c.4692T>A (p.Pro1564=)
|
|
|
|
NM_000051.4(ATM):c.4692T>G (p.Pro1564=)
|
|
|
|
NM_000051.4(ATM):c.4698T>C (p.Pro1566=)
|
|
|
|
NM_000051.4(ATM):c.4698dup (p.Asp1567Ter)
|
|
|
|
NM_000051.4(ATM):c.4699G>A (p.Asp1567Asn)
|
rs876659069
|
|
|
NM_000051.4(ATM):c.4701C>T (p.Asp1567=)
|
rs1591677421
|
|
|
NM_000051.4(ATM):c.4704T>C (p.His1568=)
|
rs1057522200
|
|
|
NM_000051.4(ATM):c.4707T>G (p.Val1569=)
|
rs1591677478
|
|
|
NM_000051.4(ATM):c.4707dup (p.Val1570fs)
|
|
|
|
NM_000051.4(ATM):c.4713T>C (p.Phe1571=)
|
rs750027746
|
|
|
NM_000051.4(ATM):c.471T>A (p.Cys157Ter)
|
rs1555059459
|
|
|
NM_000051.4(ATM):c.471T>C (p.Cys157=)
|
|
|
|
NM_000051.4(ATM):c.4725T>C (p.Arg1575=)
|
rs1555100576
|
|
|
NM_000051.4(ATM):c.4730_4733del (p.Thr1577fs)
|
|
|
|
NM_000051.4(ATM):c.4731T>A (p.Thr1577=)
|
rs145236132
|
|
|
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter)
|
rs746499337
|
|
|
NM_000051.4(ATM):c.4734_4736delinsCC (p.Gln1578fs)
|
|
|
|
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)
|
rs869312755
|
|
|
NM_000051.4(ATM):c.4741A>G (p.Ile1581Val)
|
rs1565463271
|
|
|
NM_000051.4(ATM):c.4741_4742delinsG (p.Ile1581fs)
|
|
|
|
NM_000051.4(ATM):c.4741del (p.Ile1581fs)
|
rs864622164
|
|
|
NM_000051.4(ATM):c.4741dup (p.Ile1581fs)
|
rs864622164
|
|
|
NM_000051.4(ATM):c.4746A>G (p.Lys1582=)
|
rs1555100593
|
|
|
NM_000051.4(ATM):c.4749C>A (p.Tyr1583Ter)
|
|
|
|
NM_000051.4(ATM):c.4749C>T (p.Tyr1583=)
|
rs1555100597
|
|
|
NM_000051.4(ATM):c.4752T>C (p.Ser1584=)
|
rs1555100601
|
|
|
NM_000051.4(ATM):c.4753A>G (p.Arg1585Gly)
|
rs781275128
|
|
|
NM_000051.4(ATM):c.475del (p.Ile159fs)
|
rs1555059464
|
|
|
NM_000051.4(ATM):c.4761C>A (p.Pro1587=)
|
|
|
|
NM_000051.4(ATM):c.4761C>G (p.Pro1587=)
|
rs769562370
|
|
|
NM_000051.4(ATM):c.4761dup (p.Phe1588fs)
|
rs1591677757
|
|
|
NM_000051.4(ATM):c.4770C>A (p.Leu1590=)
|
rs749475519
|
|
|
NM_000051.4(ATM):c.4774G>T (p.Glu1592Ter)
|
rs876658587
|
|
|
NM_000051.4(ATM):c.4776+10del
|
rs878853512
|
|
|
NM_000051.4(ATM):c.4776+1G>T
|
rs771117943
|
|
|
NM_000051.4(ATM):c.4776+2T>A
|
rs587781927
|
|
|
NM_000051.4(ATM):c.4776+2T>C
|
rs587781927
|
|
|
NM_000051.4(ATM):c.4776+2_4776+13del
|
rs762838462
|
|
|
NM_000051.4(ATM):c.4776+5T>G
|
|
|
|
NM_000051.4(ATM):c.4776+7A>C
|
rs2082927524
|
|
|
NM_000051.4(ATM):c.4776+9A>T
|
|
|
|
NM_000051.4(ATM):c.4776G>C (p.Glu1592Asp)
|
rs786202973
|
|
|
NM_000051.4(ATM):c.4777-10T>C
|
|
|
|
NM_000051.4(ATM):c.4777-10dup
|
rs1398289633
|
|
|
NM_000051.4(ATM):c.4777-13_4777-10dup
|
|
|
|
NM_000051.4(ATM):c.4777-14A>G
|
|
|
|
NM_000051.4(ATM):c.4777-16A>G
|
rs942981609
|
|
|
NM_000051.4(ATM):c.4777-2A>C
|
|
|
|
NM_000051.4(ATM):c.4777-3dup
|
rs2083032760
|
|
|
NM_000051.4(ATM):c.4777-5_4795del
|
|
|
|
NM_000051.4(ATM):c.4777-6T>C
|
rs1565465980
|
|
|
NM_000051.4(ATM):c.4777-9C>T
|
rs1214975942
|
|
|
NM_000051.4(ATM):c.4777G>T (p.Glu1593Ter)
|
|
|
|
NM_000051.4(ATM):c.4781T>C (p.Ile1594Thr)
|
rs1555101621
|
|
|
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser)
|
rs777812804
|
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
|
NM_000051.4(ATM):c.4794C>G (p.Leu1598=)
|
|
|
|
NM_000051.4(ATM):c.4794C>T (p.Leu1598=)
|
|
|
|
NM_000051.4(ATM):c.4796C>A (p.Ser1599Ter)
|
|
|
|
NM_000051.4(ATM):c.4797A>C (p.Ser1599=)
|
rs1371876868
|
|
|
NM_000051.4(ATM):c.4797A>G (p.Ser1599=)
|
|
|
|
NM_000051.4(ATM):c.4799dup (p.Ser1601fs)
|
rs2135834235
|
|
|
NM_000051.4(ATM):c.4800A>G (p.Val1600=)
|
|
|
|
NM_000051.4(ATM):c.4800_4803del (p.Ser1601fs)
|
rs1060501659
|
|
|
NM_000051.4(ATM):c.4801dup (p.Ser1601fs)
|
|
|
|
NM_000051.4(ATM):c.4803T>C (p.Ser1601=)
|
rs964364958
|
|
|
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)
|
rs864622290
|
|
|
NM_000051.4(ATM):c.4807T>C (p.Tyr1603His)
|
rs994121421
|
|
|
NM_000051.4(ATM):c.4808_4809del (p.Val1602_Tyr1603insTer)
|
|
|
|
NM_000051.4(ATM):c.480_484del (p.Gln161fs)
|
|
|
|
NM_000051.4(ATM):c.4814C>T (p.Ala1605Val)
|
rs786203520
|
|
|
NM_000051.4(ATM):c.4815A>C (p.Ala1605=)
|
rs1591684513
|
|
|
NM_000051.4(ATM):c.4818T>C (p.Leu1606=)
|
rs772074468
|
|
|
NM_000051.4(ATM):c.4820del (p.Pro1607fs)
|
rs2135834949
|
|
|
NM_000051.4(ATM):c.4823T>A (p.Leu1608Ter)
|
|
|
|
NM_000051.4(ATM):c.4833T>A (p.Leu1611=)
|
rs769025179
|
|
|
NM_000051.4(ATM):c.4836A>G (p.Glu1612=)
|
rs2135835525
|
|
|
NM_000051.4(ATM):c.483G>A (p.Gln161=)
|
rs864622742
|
|
|
NM_000051.4(ATM):c.4840C>T (p.Leu1614=)
|
rs777239020
|
|
|
NM_000051.4(ATM):c.4842_4843insCT (p.Lys1615fs)
|
rs753011366
|
|
|
NM_000051.4(ATM):c.4848T>C (p.Asp1616=)
|
rs2083040302
|
|
|
NM_000051.4(ATM):c.484C>T (p.Gln162Ter)
|
rs1565357383
|
|
|
NM_000051.4(ATM):c.4858C>G (p.Gln1620Glu)
|
|
|
|
NM_000051.4(ATM):c.4860A>G (p.Gln1620=)
|
rs1057520446
|
|
|
NM_000051.4(ATM):c.4861C>T (p.Leu1621=)
|
rs759289039
|
|
|
NM_000051.4(ATM):c.4864G>T (p.Glu1622Ter)
|
|
|
|
NM_000051.4(ATM):c.4864del (p.Glu1622fs)
|
rs2083042256
|
|
|
NM_000051.4(ATM):c.4866A>G (p.Glu1622=)
|
rs2135836682
|
|
|
NM_000051.4(ATM):c.4868T>C (p.Leu1623Pro)
|
rs786203017
|
|
|
NM_000051.4(ATM):c.4869A>G (p.Leu1623=)
|
rs767084038
|
|
|
NM_000051.4(ATM):c.486A>G (p.Gln162=)
|
|
|
|
NM_000051.4(ATM):c.4873A>G (p.Lys1625Glu)
|
rs1060501693
|
|
|
NM_000051.4(ATM):c.4879del (p.Gln1627fs)
|
rs2135837254
|
|
|
NM_000051.4(ATM):c.487C>T (p.Gln163Ter)
|
rs1591475608
|
|
|
NM_000051.4(ATM):c.4888G>A (p.Asp1630Asn)
|
rs1555101921
|
|
|
NM_000051.4(ATM):c.4890C>T (p.Asp1630=)
|
rs1591685165
|
|
|
NM_000051.4(ATM):c.4893T>A (p.Ile1631=)
|
rs1591685188
|
|
|
NM_000051.4(ATM):c.489G>A (p.Gln163=)
|
rs1057523087
|
|
|
NM_000051.4(ATM):c.4905T>C (p.Ser1635=)
|
|
|
|
NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter)
|
rs1060501627
|
|
|
NM_000051.4(ATM):c.4909+1G>T
|
rs756987454
|
|
|
NM_000051.4(ATM):c.4909+1del
|
|
|
|
NM_000051.4(ATM):c.4909+2T>C
|
|
|
|
NM_000051.4(ATM):c.4909+5T>C
|
rs2083048367
|
|
|
NM_000051.4(ATM):c.4909+8T>G
|
|
|
|
NM_000051.4(ATM):c.4909+9T>G
|
rs1555101970
|
|
|
NM_000051.4(ATM):c.4910-11del
|
|
|
|
NM_000051.4(ATM):c.4910-1G>T
|
rs1060501706
|
|
|
NM_000051.4(ATM):c.4910-20T>C
|
|
|
|
NM_000051.4(ATM):c.4910-2A>G
|
rs1555103156
|
|
|
NM_000051.4(ATM):c.4910-7T>C
|
rs3092872
|
|
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
|
|
NM_000051.4(ATM):c.4917G>A (p.Pro1639=)
|
rs140425622
|
|
|
NM_000051.4(ATM):c.4917G>T (p.Pro1639=)
|
rs140425622
|
|
|
NM_000051.4(ATM):c.4918dup (p.Gln1640fs)
|
|
|
|
NM_000051.4(ATM):c.491G>A (p.Trp164Ter)
|
|
|
|
NM_000051.4(ATM):c.4926G>T (p.Gly1642=)
|
|
|
|
NM_000051.4(ATM):c.4929del (p.Met1644fs)
|
rs2083175858
|
|
|
NM_000051.4(ATM):c.492G>A (p.Trp164Ter)
|
rs1555059530
|
|
|
NM_000051.4(ATM):c.492G>T (p.Trp164Cys)
|
rs1555059530
|
|
|
NM_000051.4(ATM):c.4938del (p.Lys1646fs)
|
rs587781754
|
|
|
NM_000051.4(ATM):c.4939C>T (p.Leu1647=)
|
rs1157451668
|
|
|
NM_000051.4(ATM):c.4949A>C (p.Asn1650Thr)
|
rs55870064
|
|
|
NM_000051.4(ATM):c.4953G>A (p.Leu1651=)
|
rs786201297
|
|
|
NM_000051.4(ATM):c.4955del (p.Leu1652fs)
|
|
|
|
NM_000051.4(ATM):c.4956G>A (p.Leu1652=)
|
rs2135862508
|
|
|
NM_000051.4(ATM):c.4957C>T (p.Gln1653Ter)
|
rs1565469955
|
|
|
NM_000051.4(ATM):c.495_496+16del
|
rs1555059522
|
|
|
NM_000051.4(ATM):c.496+10G>A
|
|
|
|
NM_000051.4(ATM):c.496+334A>G
|
|
|
|
NM_000051.4(ATM):c.496+5G>A
|
rs796051858
|
|
|
NM_000051.4(ATM):c.496+8T>C
|
rs2135126803
|
|
|
NM_000051.4(ATM):c.4961T>G (p.Leu1654Ter)
|
|
|
|
NM_000051.4(ATM):c.4962A>G (p.Leu1654=)
|
rs2135862796
|
|
|
NM_000051.4(ATM):c.4965del (p.Lys1656fs)
|
|
|
|
NM_000051.4(ATM):c.496G>T (p.Glu166Ter)
|
rs1565357473
|
|
|
NM_000051.4(ATM):c.496_496+1dup
|
|
|
|
NM_000051.4(ATM):c.497-15T>A
|
|
|
|
NM_000051.4(ATM):c.497-16T>C
|
|
|
|
NM_000051.4(ATM):c.497-19A>T
|
|
|
|
NM_000051.4(ATM):c.497-19_497-18del
|
|
|
|
NM_000051.4(ATM):c.497-1G>C
|
rs778624615
|
|
|
NM_000051.4(ATM):c.497-1G>T
|
rs778624615
|
|
|
NM_000051.4(ATM):c.497-20A>G
|
|
|
|
NM_000051.4(ATM):c.497-20A>T
|
rs2079692832
|
|
|
NM_000051.4(ATM):c.497-4T>C
|
|
|
|
NM_000051.4(ATM):c.497-5_497-4dup
|
|
|
|
NM_000051.4(ATM):c.497-7T>C
|
|
|
|
NM_000051.4(ATM):c.497-8T>C
|
|
|
|
NM_000051.4(ATM):c.4972del (p.Ala1658fs)
|
|
|
|
NM_000051.4(ATM):c.4975_4982dup (p.His1661delinsGlnTer)
|
|
|
|
NM_000051.4(ATM):c.4980C>A (p.Asn1660Lys)
|
rs144338238
|
|
|
NM_000051.4(ATM):c.4985C>T (p.Thr1662Ile)
|
rs1591692969
|
|
|
NM_000051.4(ATM):c.4987G>A (p.Gly1663Ser)
|
rs1346404008
|
|
|
NM_000051.4(ATM):c.498A>G (p.Glu166=)
|
rs587779842
|
|
|
NM_000051.4(ATM):c.498A>T (p.Glu166Asp)
|
rs587779842
|
|
|
NM_000051.4(ATM):c.4996G>T (p.Glu1666Ter)
|
|
|
|
NM_000051.4(ATM):c.4A>G (p.Ser2Gly)
|
rs1591445677
|
|
|
NM_000051.4(ATM):c.4dup (p.Ser2fs)
|
|
|
|
NM_000051.4(ATM):c.5001del (p.Val1667_Leu1668insTer)
|
|
|
|
NM_000051.4(ATM):c.5005+10A>G
|
rs2083183551
|
|
|
NM_000051.4(ATM):c.5005+10delinsGT
|
|
|
|
NM_000051.4(ATM):c.5005+1G>A
|
rs1057517427
|
|
|
NM_000051.4(ATM):c.5005+6C>T
|
|
|
|
NM_000051.4(ATM):c.5005+86T>A
|
|
|
|
NM_000051.4(ATM):c.5005+8A>T
|
|
|
|
NM_000051.4(ATM):c.5006-10C>T
|
rs2083315555
|
|
|
NM_000051.4(ATM):c.5006-12T>C
|
|
|
|
NM_000051.4(ATM):c.5006-12T>G
|
rs2083315314
|
|
|
NM_000051.4(ATM):c.5006-13T>C
|
|
|
|
NM_000051.4(ATM):c.5006-14A>C
|
rs2083314877
|
|
|
NM_000051.4(ATM):c.5006-17A>G
|
|
|
|
NM_000051.4(ATM):c.5006-17A>T
|
|
|
|
NM_000051.4(ATM):c.5006-20A>G
|
|
|
|
NM_000051.4(ATM):c.5006-4G>A
|
rs1591701752
|
|
|
NM_000051.4(ATM):c.5006-5T>C
|
|
|
|
NM_000051.4(ATM):c.5006-6A>G
|
rs1392301961
|
|
|
NM_000051.4(ATM):c.5006-7T>C
|
|
|
|
NM_000051.4(ATM):c.5006-8A>G
|
rs1057520447
|
|
|
NM_000051.4(ATM):c.5010T>G (p.Ala1670=)
|
rs1555104482
|
|
|
NM_000051.4(ATM):c.5013T>G (p.Val1671=)
|
|
|
|
NM_000051.4(ATM):c.5013del (p.Gly1672fs)
|
|
|
|
NM_000051.4(ATM):c.5015_5018del (p.Gly1672fs)
|
|
|
|
NM_000051.4(ATM):c.5015del (p.Gly1672fs)
|
rs864622662
|
|
|
NM_000051.4(ATM):c.5019C>T (p.Ser1673=)
|
rs1565473483
|
|
|
NM_000051.4(ATM):c.5022C>G (p.Cys1674Trp)
|
rs2083319473
|
|
|
NM_000051.4(ATM):c.5023T>C (p.Leu1675=)
|
rs876660275
|
|
|
NM_000051.4(ATM):c.5034G>C (p.Val1678=)
|
rs1555104548
|
|
|
NM_000051.4(ATM):c.5035G>T (p.Gly1679Cys)
|
|
|
|
NM_000051.4(ATM):c.5043A>C (p.Ile1681=)
|
|
|
|
NM_000051.4(ATM):c.504C>T (p.Phe168=)
|
rs1060504312
|
|
|
NM_000051.4(ATM):c.5050T>A (p.Ser1684Thr)
|
rs1591702098
|
|
|
NM_000051.4(ATM):c.5053A>G (p.Thr1685Ala)
|
rs879254205
|
|
|
NM_000051.4(ATM):c.5055C>G (p.Thr1685=)
|
|
|
|
NM_000051.4(ATM):c.5061T>G (p.Ala1687=)
|
|
|
|
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val)
|
rs766053182
|
|
|
NM_000051.4(ATM):c.5064A>G (p.Ile1688Met)
|
|
|
|
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter)
|
rs1555104609
|
|
|
NM_000051.4(ATM):c.5067A>G (p.Gln1689=)
|
rs1555104621
|
|
|
NM_000051.4(ATM):c.5068C>G (p.His1690Asp)
|
rs1591702291
|
|
|
NM_000051.4(ATM):c.506C>T (p.Ser169Phe)
|
rs587779843
|
|
|
NM_000051.4(ATM):c.5070T>C (p.His1690=)
|
rs1555104631
|
|
|
NM_000051.4(ATM):c.5070del (p.His1690fs)
|
rs2083325659
|
|
|
NM_000051.4(ATM):c.5081C>T (p.Ala1694Val)
|
rs587782551
|
|
|
NM_000051.4(ATM):c.5082A>C (p.Ala1694=)
|
|
|
|
NM_000051.4(ATM):c.5082A>G (p.Ala1694=)
|
rs778014234
|
|
|
NM_000051.4(ATM):c.5088T>C (p.Tyr1696=)
|
rs786203476
|
|
|
NM_000051.4(ATM):c.5091_5094delinsAA (p.Lys1698fs)
|
|
|
|
NM_000051.4(ATM):c.5094G>A (p.Lys1698=)
|
|
|
|
NM_000051.4(ATM):c.5096C>T (p.Ala1699Val)
|
rs992234584
|
|
|
NM_000051.4(ATM):c.5098del (p.Lys1701fs)
|
rs1555104689
|
|
|
NM_000051.4(ATM):c.50A>G (p.His17Arg)
|
rs1242444722
|
|
|
NM_000051.4(ATM):c.50_51del (p.His17fs)
|
rs775561876
|
|
|
NM_000051.4(ATM):c.5100del (p.Lys1701fs)
|
|
|
|
NM_000051.4(ATM):c.5102_5106del (p.Lys1701fs)
|
rs1555104693
|
|
|
NM_000051.4(ATM):c.5106A>G (p.Leu1702=)
|
rs2083331055
|
|
|
NM_000051.4(ATM):c.5108T>C (p.Phe1703Ser)
|
rs772376652
|
|
|
NM_000051.4(ATM):c.510_511del (p.Tyr171fs)
|
rs1591499665
|
|
|
NM_000051.4(ATM):c.5111A>G (p.Glu1704Gly)
|
rs2083331490
|
|
|
NM_000051.4(ATM):c.5114A>G (p.Asp1705Gly)
|
rs2083331705
|
|
|
NM_000051.4(ATM):c.5115T>C (p.Asp1705=)
|
rs876658685
|
|
|
NM_000051.4(ATM):c.5118A>G (p.Lys1706=)
|
rs3218672
|
|
|
NM_000051.4(ATM):c.5118_5121del (p.Lys1706fs)
|
rs1591702700
|
|
|
NM_000051.4(ATM):c.5127G>A (p.Gln1709=)
|
rs1057521839
|
|
|
NM_000051.4(ATM):c.5129G>A (p.Trp1710Ter)
|
|
|
|
NM_000051.4(ATM):c.5130G>A (p.Trp1710Ter)
|
|
|
|
NM_000051.4(ATM):c.5133C>T (p.Thr1711=)
|
rs1357021067
|
|
|
NM_000051.4(ATM):c.5139A>C (p.Ile1713=)
|
rs1233346885
|
|
|
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)
|
rs786201693
|
|
|
NM_000051.4(ATM):c.5143C>T (p.Leu1715=)
|
|
|
|
NM_000051.4(ATM):c.5145G>A (p.Leu1715=)
|
rs786202765
|
|
|
NM_000051.4(ATM):c.5145G>C (p.Leu1715=)
|
|
|
|
NM_000051.4(ATM):c.5148dup (p.Tyr1717fs)
|
|
|
|
NM_000051.4(ATM):c.5151C>T (p.Tyr1717=)
|
rs1057523468
|
|
|
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser)
|
rs183531638
|
|
|
NM_000051.4(ATM):c.5156del (p.Asn1719fs)
|
rs1591702951
|
|
|
NM_000051.4(ATM):c.5169AGA[1] (p.Glu1724del)
|
|
|
|
NM_000051.4(ATM):c.516C>T (p.Phe172=)
|
rs1591499730
|
|
|
NM_000051.4(ATM):c.5175T>C (p.Asp1725=)
|
rs1555104803
|
|
|
NM_000051.4(ATM):c.5177+10_5177+13del
|
|
|
|
NM_000051.4(ATM):c.5177+1G>T
|
|
|
|
NM_000051.4(ATM):c.5177+3_5177+6del
|
|
|
|
NM_000051.4(ATM):c.5177+5G>A
|
rs759373136
|
|
|
NM_000051.4(ATM):c.5177+8T>C
|
|
|
|
NM_000051.4(ATM):c.5177+9T>C
|
rs767425639
|
|
|
NM_000051.4(ATM):c.5178-10T>C
|
|
|
|
NM_000051.4(ATM):c.5178-11G>A
|
rs200876654
|
|
|
NM_000051.4(ATM):c.5178-11G>T
|
rs200876654
|
|
|
NM_000051.4(ATM):c.5178-15A>C
|
|
|
|
NM_000051.4(ATM):c.5178-18T>C
|
rs1057522381
|
|
|
NM_000051.4(ATM):c.5178-19T>C
|
|
|
|
NM_000051.4(ATM):c.5178-1G>A
|
rs1555105579
|
|
|
NM_000051.4(ATM):c.5178-2A>G
|
rs2135911500
|
|
|
NM_000051.4(ATM):c.5178-3C>T
|
|
|
|
NM_000051.4(ATM):c.5178-3del
|
rs1555105575
|
|
|
NM_000051.4(ATM):c.5178-4dup
|
rs747750958
|
|
|
NM_000051.4(ATM):c.5178-6T>C
|
|
|
|
NM_000051.4(ATM):c.5178-7T>C
|
rs1555105564
|
|
|
NM_000051.4(ATM):c.5179G>A (p.Val1727Ile)
|
rs1064793458
|
|
|
NM_000051.4(ATM):c.517A>C (p.Arg173=)
|
rs1591499740
|
|
|
NM_000051.4(ATM):c.5184dup (p.Val1729fs)
|
rs1555105588
|
|
|
NM_000051.4(ATM):c.5190A>G (p.Arg1730=)
|
rs786201609
|
|
|
NM_000051.4(ATM):c.5192C>G (p.Ser1731Ter)
|
rs886039627
|
|
|
NM_000051.4(ATM):c.5197G>A (p.Ala1733Thr)
|
rs1591708460
|
|
|
NM_000051.4(ATM):c.5199T>A (p.Ala1733=)
|
|
|
|
NM_000051.4(ATM):c.51T>C (p.His17=)
|
rs1591446045
|
|
|
NM_000051.4(ATM):c.5202T>C (p.Val1734=)
|
|
|
|
NM_000051.4(ATM):c.5205C>A (p.Thr1735=)
|
rs1060504283
|
|
|
NM_000051.4(ATM):c.5205C>G (p.Thr1735=)
|
rs1060504283
|
|
|
NM_000051.4(ATM):c.5205del (p.Cys1736fs)
|
|
|
|
NM_000051.4(ATM):c.5216del (p.Asn1739fs)
|
|
|
|
NM_000051.4(ATM):c.5217C>T (p.Asn1739=)
|
rs876658271
|
|
|
NM_000051.4(ATM):c.5223A>T (p.Leu1741Phe)
|
rs1591708658
|
|
|
NM_000051.4(ATM):c.5229A>G (p.Thr1743=)
|
rs878853519
|
|
|
NM_000051.4(ATM):c.522C>T (p.Leu174=)
|
rs780173724
|
|
|
NM_000051.4(ATM):c.5235T>C (p.Thr1745=)
|
rs1591708727
|
|
|
NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg)
|
rs1060501571
|
|
|
NM_000051.4(ATM):c.5244T>C (p.Ser1748=)
|
rs2083440966
|
|
|
NM_000051.4(ATM):c.5247C>T (p.Phe1749=)
|
rs2083441197
|
|
|
NM_000051.4(ATM):c.5250G>A (p.Trp1750Ter)
|
|
|
|
NM_000051.4(ATM):c.5253G>A (p.Glu1751=)
|
|
|
|
NM_000051.4(ATM):c.5256T>A (p.Ile1752=)
|
rs1555105718
|
|
|
NM_000051.4(ATM):c.5256T>C (p.Ile1752=)
|
rs1555105718
|
|
|
NM_000051.4(ATM):c.5262G>A (p.Lys1754=)
|
rs748900588
|
|
|
NM_000051.4(ATM):c.5267C>G (p.Thr1756Arg)
|
rs786203369
|
|
|
NM_000051.4(ATM):c.5268A>T (p.Thr1756=)
|
rs1591708913
|
|
|
NM_000051.4(ATM):c.526C>T (p.Leu176=)
|
rs375798802
|
|
|
NM_000051.4(ATM):c.5272_5273del (p.Asp1758fs)
|
|
|
|
NM_000051.4(ATM):c.5283G>A (p.Leu1761=)
|
|
|
|
NM_000051.4(ATM):c.5286C>G (p.Ala1762=)
|
|
|
|
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter)
|
rs1555105786
|
|
|
NM_000051.4(ATM):c.5288_5298del (p.Tyr1763fs)
|
rs2135914733
|
|
|
NM_000051.4(ATM):c.5290C>G (p.Leu1764Val)
|
rs2083444552
|
|
|
NM_000051.4(ATM):c.5292A>G (p.Leu1764=)
|
rs786201703
|
|
|
NM_000051.4(ATM):c.5295G>A (p.Gln1765=)
|
|
|
|
NM_000051.4(ATM):c.5297del (p.Pro1766fs)
|
|
|
|
NM_000051.4(ATM):c.5300T>G (p.Phe1767Cys)
|
rs864622125
|
|
|
NM_000051.4(ATM):c.5301T>C (p.Phe1767=)
|
rs1468101040
|
|
|
NM_000051.4(ATM):c.5301del (p.Phe1767fs)
|
|
|
|
NM_000051.4(ATM):c.5304A>G (p.Arg1768=)
|
rs1591709095
|
|
|
NM_000051.4(ATM):c.5307A>T (p.Thr1769=)
|
|
|
|
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter)
|
rs121434223
|
|
|
NM_000051.4(ATM):c.5312_5313delinsC (p.Arg1771fs)
|
|
|
|
NM_000051.4(ATM):c.5313A>G (p.Arg1771=)
|
rs1591709164
|
|
|
NM_000051.4(ATM):c.5316A>G (p.Lys1772=)
|
|
|
|
NM_000051.4(ATM):c.5318del (p.Lys1773fs)
|
rs876660289
|
|
|
NM_000051.4(ATM):c.5319+1G>T
|
rs876660175
|
|
|
NM_000051.4(ATM):c.5319+2T>C
|
rs1555105842
|
|
|
NM_000051.4(ATM):c.5319+8_5319+11delinsTTATTC
|
|
|
|
NM_000051.4(ATM):c.5319_5319+8delinsTGTTTG
|
rs1064792939
|
|
|
NM_000051.4(ATM):c.531dup (p.Pro178fs)
|
|
|
|
NM_000051.4(ATM):c.5320-11T>C
|
|
|
|
NM_000051.4(ATM):c.5320-12C>T
|
|
|
|
NM_000051.4(ATM):c.5320-13C>T
|
rs1565478723
|
|
|
NM_000051.4(ATM):c.5320-14C>T
|
rs182663175
|
|
|
NM_000051.4(ATM):c.5320-2A>G
|
|
|
|
NM_000051.4(ATM):c.5320-3T>C
|
rs1346691984
|
|
|
NM_000051.4(ATM):c.5320-5T>C
|
rs1555106308
|
|
|
NM_000051.4(ATM):c.5320-5_5320-2del
|
rs730881310
|
|
|
NM_000051.4(ATM):c.5320-7T>C
|
|
|
|
NM_000051.4(ATM):c.5324del (p.Phe1774_Leu1775insTer)
|
rs2083496327
|
|
|
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)
|
rs1555106321
|
|
|
NM_000051.4(ATM):c.532C>A (p.Pro178Thr)
|
|
|
|
NM_000051.4(ATM):c.5335del (p.Arg1779fs)
|
|
|
|
NM_000051.4(ATM):c.5343C>T (p.Asp1781=)
|
|
|
|
NM_000051.4(ATM):c.5344A>T (p.Lys1782Ter)
|
|
|
|
NM_000051.4(ATM):c.5346dup (p.Glu1783fs)
|
rs2135927478
|
|
|
NM_000051.4(ATM):c.5347G>T (p.Glu1783Ter)
|
|
|
|
NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs)
|
rs2135927504
|
|
|
NM_000051.4(ATM):c.5349A>G (p.Glu1783=)
|
rs1555106353
|
|
|
NM_000051.4(ATM):c.534T>C (p.Pro178=)
|
rs1060504293
|
|
|
NM_000051.4(ATM):c.534T>G (p.Pro178=)
|
rs1060504293
|
|
|
NM_000051.4(ATM):c.5351del (p.Asn1784fs)
|
rs1057517101
|
|
|
NM_000051.4(ATM):c.5357_5358del (p.Pro1785_Phe1786insTer)
|
|
|
|
NM_000051.4(ATM):c.5358_5377dup (p.Asn1793delinsMetLysAlaTrpMetIleTer)
|
|
|
|
NM_000051.4(ATM):c.5361A>G (p.Glu1787=)
|
|
|
|
NM_000051.4(ATM):c.5368G>C (p.Asp1790His)
|
rs876658890
|
|
|
NM_000051.4(ATM):c.5372A>G (p.Asp1791Gly)
|
rs367987632
|
|
|
NM_000051.4(ATM):c.5372dup (p.Asp1791fs)
|
|
|
|
NM_000051.4(ATM):c.5373T>C (p.Asp1791=)
|
rs2135928197
|
|
|
NM_000051.4(ATM):c.5374_5385delinsTCCTCTAAGTGA (p.Ile1792_Trp1795delinsSerSerLysTer)
|
|
|
|
NM_000051.4(ATM):c.5376A>T (p.Ile1792=)
|
rs1287734608
|
|
|
NM_000051.4(ATM):c.537A>G (p.Ser179=)
|
|
|
|
NM_000051.4(ATM):c.5381del (p.Leu1794fs)
|
|
|
|
NM_000051.4(ATM):c.538C>A (p.Gln180Lys)
|
rs730881333
|
|
|
NM_000051.4(ATM):c.5391T>C (p.Pro1797=)
|
|
|
|
NM_000051.4(ATM):c.5395A>G (p.Ser1799Gly)
|
rs2083501896
|
|
|
NM_000051.4(ATM):c.5396del (p.Ser1799fs)
|
rs587782812
|
|
|
NM_000051.4(ATM):c.5402dup (p.Asn1801fs)
|
rs1555106438
|
|
|
NM_000051.4(ATM):c.5403_5413del (p.Asn1801fs)
|
|
|
|
NM_000051.4(ATM):c.5405A>G (p.His1802Arg)
|
rs878853521
|
|
|
NM_000051.4(ATM):c.5405A>T (p.His1802Leu)
|
rs878853521
|
|
|
NM_000051.4(ATM):c.5405dup (p.His1802fs)
|
rs1555106452
|
|
|
NM_000051.4(ATM):c.5409C>T (p.Asp1803=)
|
rs1555106462
|
|
|
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter)
|
rs879254171
|
|
|
NM_000051.4(ATM):c.5415_5416insTCCT (p.Ile1806fs)
|
|
|
|
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer)
|
rs879254041
|
|
|
NM_000051.4(ATM):c.5419A>G (p.Lys1807Glu)
|
rs1591712583
|
|
|
NM_000051.4(ATM):c.5425C>T (p.Leu1809=)
|
|
|
|
NM_000051.4(ATM):c.5425del (p.Thr1808_Leu1809insTer)
|
|
|
|
NM_000051.4(ATM):c.5430T>C (p.Thr1810=)
|
|
|
|
NM_000051.4(ATM):c.5430T>G (p.Thr1810=)
|
rs1057522229
|
|
|
NM_000051.4(ATM):c.5430_5431del (p.Ala1812fs)
|
rs2135929688
|
|
|
NM_000051.4(ATM):c.5432G>A (p.Cys1811Tyr)
|
|
|
|
NM_000051.4(ATM):c.5432G>C (p.Cys1811Ser)
|
rs149569091
|
|
|
NM_000051.4(ATM):c.5436T>G (p.Ala1812=)
|
rs1555106502
|
|
|
NM_000051.4(ATM):c.5441T>A (p.Leu1814Ter)
|
|
|
|
NM_000051.4(ATM):c.5441del (p.Leu1814fs)
|
|
|
|
NM_000051.4(ATM):c.5441dup (p.Leu1814fs)
|
rs1555106508
|
|
|
NM_000051.4(ATM):c.5443del (p.Asp1815fs)
|
rs878853522
|
|
|
NM_000051.4(ATM):c.5447G>A (p.Ser1816Asn)
|
|
|
|
NM_000051.4(ATM):c.5447_5468del (p.Ser1816fs)
|
|
|
|
NM_000051.4(ATM):c.5448T>C (p.Ser1816=)
|
rs766455425
|
|
|
NM_000051.4(ATM):c.5449G>A (p.Gly1817Arg)
|
|
|
|
NM_000051.4(ATM):c.5460A>G (p.Lys1820=)
|
rs1591712836
|
|
|
NM_000051.4(ATM):c.5460del (p.Lys1820fs)
|
|
|
|
NM_000051.4(ATM):c.5460dup (p.Cys1821fs)
|
rs1057516760
|
|
|
NM_000051.4(ATM):c.5469del (p.Leu1824fs)
|
|
|
|
NM_000051.4(ATM):c.5473C>A (p.Gln1825Lys)
|
rs1555106553
|
|
|
NM_000051.4(ATM):c.5473C>T (p.Gln1825Ter)
|
rs1555106553
|
|
|
NM_000051.4(ATM):c.5475A>G (p.Gln1825=)
|
rs1555106560
|
|
|
NM_000051.4(ATM):c.548A>C (p.His183Pro)
|
rs786204219
|
|
|
NM_000051.4(ATM):c.5496+1G>C
|
|
|
|
NM_000051.4(ATM):c.5496+2T>G
|
rs1591713093
|
|
|
NM_000051.4(ATM):c.5496+2_5496+5del
|
rs1565479572
|
|
|
NM_000051.4(ATM):c.5496+4A>G
|
rs1565479590
|
|
|
NM_000051.4(ATM):c.5496+7_5496+9del
|
rs878853523
|
|
|
NM_000051.4(ATM):c.5497-11G>A
|
|
|
|
NM_000051.4(ATM):c.5497-11G>T
|
rs2135942166
|
|
|
NM_000051.4(ATM):c.5497-13T>C
|
|
|
|
NM_000051.4(ATM):c.5497-19A>G
|
rs1555107231
|
|
|
NM_000051.4(ATM):c.5497-1G>A
|
rs876660245
|
|
|
NM_000051.4(ATM):c.5497-20G>T
|
|
|
|
NM_000051.4(ATM):c.5497-2A>C
|
rs786203796
|
|
|
NM_000051.4(ATM):c.5497-2A>G
|
rs786203796
|
|
|
NM_000051.4(ATM):c.5497-7A>G
|
rs2135942246
|
|
|
NM_000051.4(ATM):c.5497-9A>G
|
rs878853524
|
|
|
NM_000051.4(ATM):c.5499G>A (p.Val1833=)
|
|
|
|
NM_000051.4(ATM):c.549_550del (p.His183fs)
|
rs730881297
|
|
|
NM_000051.4(ATM):c.5502A>G (p.Lys1834=)
|
|
|
|
NM_000051.4(ATM):c.5506G>A (p.Asp1836Asn)
|
rs2135942560
|
|
|
NM_000051.4(ATM):c.5508_5509delinsG (p.Asp1836fs)
|
|
|
|
NM_000051.4(ATM):c.5509T>G (p.Phe1837Val)
|
rs876660472
|
|
|
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)
|
rs1555107263
|
|
|
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)
|
rs786204751
|
|
|
NM_000051.4(ATM):c.5520T>C (p.Thr1840=)
|
rs1591717575
|
|
|
NM_000051.4(ATM):c.5523A>G (p.Val1841=)
|
rs1060504268
|
|
|
NM_000051.4(ATM):c.5525T>C (p.Leu1842Pro)
|
|
|
|
NM_000051.4(ATM):c.5526T>A (p.Leu1842=)
|
rs2135942991
|
|
|
NM_000051.4(ATM):c.5527C>G (p.Pro1843Ala)
|
rs1060501607
|
|
|
NM_000051.4(ATM):c.5529A>G (p.Pro1843=)
|
rs750037588
|
|
|
NM_000051.4(ATM):c.552_553del (p.Arg184fs)
|
|
|
|
NM_000051.4(ATM):c.5531A>G (p.Tyr1844Cys)
|
rs876658907
|
|
|
NM_000051.4(ATM):c.5532C>G (p.Tyr1844Ter)
|
rs2135943149
|
|
|
NM_000051.4(ATM):c.5541T>C (p.His1847=)
|
rs1555107326
|
|
|
NM_000051.4(ATM):c.5543A>G (p.Asp1848Gly)
|
rs1555107329
|
|
|
NM_000051.4(ATM):c.5547T>A (p.Ile1849=)
|
|
|
|
NM_000051.4(ATM):c.5549del (p.Leu1850fs)
|
rs876658287
|
|
|
NM_000051.4(ATM):c.5550dup (p.Leu1851fs)
|
|
|
|
NM_000051.4(ATM):c.5553C>A (p.Leu1851=)
|
|
|
|
NM_000051.4(ATM):c.5554C>A (p.Gln1852Lys)
|
rs754562056
|
|
|
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)
|
rs754562056
|
|
|
NM_000051.4(ATM):c.5554_5557delinsTAAA (p.Gln1852_Asp1853delinsTer)
|
|
|
|
NM_000051.4(ATM):c.5554dup (p.Gln1852fs)
|
rs1555107356
|
|
|
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn)
|
rs2083595502
|
|
|
NM_000051.4(ATM):c.5559T>C (p.Asp1853=)
|
rs1555107393
|
|
|
NM_000051.4(ATM):c.5564A>G (p.Asn1855Ser)
|
rs1565481878
|
|
|
NM_000051.4(ATM):c.5568dup (p.Ser1857fs)
|
|
|
|
NM_000051.4(ATM):c.5570C>A (p.Ser1857Ter)
|
rs2135944016
|
|
|
NM_000051.4(ATM):c.5571A>G (p.Ser1857=)
|
rs777570286
|
|
|
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter)
|
rs879254076
|
|
|
NM_000051.4(ATM):c.5577A>G (p.Arg1859=)
|
|
|
|
NM_000051.4(ATM):c.5581C>T (p.Leu1861=)
|
|
|
|
NM_000051.4(ATM):c.5583G>T (p.Leu1861=)
|
rs781383087
|
|
|
NM_000051.4(ATM):c.5589T>C (p.Ser1863=)
|
rs786203902
|
|
|
NM_000051.4(ATM):c.5599C>T (p.Gln1867Ter)
|
|
|
|
NM_000051.4(ATM):c.5600A>G (p.Gln1867Arg)
|
rs1555107457
|
|
|
NM_000051.4(ATM):c.5610del (p.Phe1870fs)
|
|
|
|
NM_000051.4(ATM):c.5618G>T (p.Cys1873Phe)
|
rs587782239
|
|
|
NM_000051.4(ATM):c.561_562delinsT (p.Ala188fs)
|
rs1064793031
|
|
|
NM_000051.4(ATM):c.5623C>A (p.Arg1875=)
|
rs376603775
|
|
|
NM_000051.4(ATM):c.5624G>A (p.Arg1875Gln)
|
rs762304746
|
|
|
NM_000051.4(ATM):c.5624G>C (p.Arg1875Pro)
|
rs762304746
|
|
|
NM_000051.4(ATM):c.5625A>C (p.Arg1875=)
|
|
|
|
NM_000051.4(ATM):c.5628C>T (p.His1876=)
|
rs1237700879
|
|
|
NM_000051.4(ATM):c.5630_5639del (p.His1876_Phe1877insTer)
|
|
|
|
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs)
|
rs758852420
|
|
|
NM_000051.4(ATM):c.5632del (p.Ser1878fs)
|
|
|
|
NM_000051.4(ATM):c.5633C>A (p.Ser1878Ter)
|
|
|
|
NM_000051.4(ATM):c.5634G>C (p.Ser1878=)
|
|
|
|
NM_000051.4(ATM):c.5634G>T (p.Ser1878=)
|
rs767070325
|
|
|
NM_000051.4(ATM):c.5640G>T (p.Thr1880=)
|
rs757103582
|
|
|
NM_000051.4(ATM):c.5643C>T (p.Ser1881=)
|
|
|
|
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs)
|
rs1591718522
|
|
|
NM_000051.4(ATM):c.5650del (p.Thr1884fs)
|
|
|
|
NM_000051.4(ATM):c.5652A>G (p.Thr1884=)
|
rs1591718571
|
|
|
NM_000051.4(ATM):c.5653dup (p.Thr1885fs)
|
rs587778077
|
|
|
NM_000051.4(ATM):c.5655C>A (p.Thr1885=)
|
|
|
|
NM_000051.4(ATM):c.5657del (p.Pro1886fs)
|
rs2135946188
|
|
|
NM_000051.4(ATM):c.5658T>A (p.Pro1886=)
|
rs940182945
|
|
|
NM_000051.4(ATM):c.565A>G (p.Arg189Gly)
|
rs2079701086
|
|
|
NM_000051.4(ATM):c.5661A>T (p.Ala1887=)
|
rs876658939
|
|
|
NM_000051.4(ATM):c.5665T>C (p.Leu1889=)
|
|
|
|
NM_000051.4(ATM):c.5672C>A (p.Ser1891Ter)
|
|
|
|
NM_000051.4(ATM):c.5674+1G>A
|
|
|
|
NM_000051.4(ATM):c.5674+1G>T
|
rs1565482453
|
|
|
NM_000051.4(ATM):c.5674+1dup
|
|
|
|
NM_000051.4(ATM):c.5674+7T>A
|
rs1591718715
|
|
|
NM_000051.4(ATM):c.5674+8A>G
|
rs1033110152
|
|
|
NM_000051.4(ATM):c.5674+9_5674+12del
|
|
|
|
NM_000051.4(ATM):c.5674G>T (p.Glu1892Ter)
|
|
|
|
NM_000051.4(ATM):c.5675-13T>C
|
|
|
|
NM_000051.4(ATM):c.5675-14T>C
|
|
|
|
NM_000051.4(ATM):c.5675-15A>G
|
rs1565485867
|
|
|
NM_000051.4(ATM):c.5675-16T>C
|
|
|
|
NM_000051.4(ATM):c.5675-17A>T
|
|
|
|
NM_000051.4(ATM):c.5675-19A>T
|
|
|
|
NM_000051.4(ATM):c.5675-20G>A
|
|
|
|
NM_000051.4(ATM):c.5675-20dup
|
|
|
|
NM_000051.4(ATM):c.5675-4T>A
|
rs56075338
|
|
|
NM_000051.4(ATM):c.5675-5G>C
|
rs1591731701
|
|
|
NM_000051.4(ATM):c.5675-5G>T
|
|
|
|
NM_000051.4(ATM):c.5675-7T>C
|
|
|
|
NM_000051.4(ATM):c.5679A>G (p.Ser1893=)
|
|
|
|
NM_000051.4(ATM):c.567A>G (p.Arg189=)
|
rs1555066398
|
|
|
NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs)
|
rs1060501580
|
|
|
NM_000051.4(ATM):c.5683C>A (p.His1895Asn)
|
rs766901049
|
|
|
NM_000051.4(ATM):c.5690del (p.Phe1897fs)
|
rs1591731851
|
|
|
NM_000051.4(ATM):c.5691C>T (p.Phe1897=)
|
rs1555109057
|
|
|
NM_000051.4(ATM):c.5695T>C (p.Cys1899Arg)
|
rs373213507
|
|
|
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter)
|
rs753839301
|
|
|
NM_000051.4(ATM):c.5697C>T (p.Cys1899=)
|
rs753839301
|
|
|
NM_000051.4(ATM):c.5698T>C (p.Cys1900Arg)
|
rs2083817433
|
|
|
NM_000051.4(ATM):c.5698del (p.Cys1900fs)
|
|
|
|
NM_000051.4(ATM):c.5699_5700del (p.Cys1900fs)
|
|
|
|
NM_000051.4(ATM):c.5701T>C (p.Leu1901=)
|
rs2135976467
|
|
|
NM_000051.4(ATM):c.5707A>T (p.Lys1903Ter)
|
|
|
|
NM_000051.4(ATM):c.5712A>G (p.Lys1904=)
|
rs864622127
|
|
|
NM_000051.4(ATM):c.5712del (p.Lys1904fs)
|
rs587781730
|
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
|
NM_000051.4(ATM):c.5715A>G (p.Ser1905=)
|
rs1057524579
|
|
|
NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter)
|
rs2135976898
|
|
|
NM_000051.4(ATM):c.5719_5721delinsGG (p.Arg1907fs)
|
|
|
|
NM_000051.4(ATM):c.5719_5722del (p.Arg1907fs)
|
rs1591732123
|
|
|
NM_000051.4(ATM):c.5732_5748del (p.Ala1911fs)
|
rs1565486174
|
|
|
NM_000051.4(ATM):c.5734G>A (p.Val1912Ile)
|
rs1064794105
|
|
|
NM_000051.4(ATM):c.5736T>C (p.Val1912=)
|
rs1060504302
|
|
|
NM_000051.4(ATM):c.5736del (p.Val1913fs)
|
|
|
|
NM_000051.4(ATM):c.5737G>A (p.Val1913Met)
|
rs876659487
|
|
|
NM_000051.4(ATM):c.573dup (p.His192fs)
|
|
|
|
NM_000051.4(ATM):c.5745C>T (p.Tyr1915=)
|
|
|
|
NM_000051.4(ATM):c.5749A>C (p.Arg1917=)
|
|
|
|
NM_000051.4(ATM):c.5752A>C (p.Arg1918=)
|
|
|
|
NM_000051.4(ATM):c.5755C>T (p.Gln1919Ter)
|
rs2083823146
|
|
|
NM_000051.4(ATM):c.5757A>G (p.Gln1919=)
|
rs1555109182
|
|
|
NM_000051.4(ATM):c.5758_5759del (p.Lys1920fs)
|
rs1555109177
|
|
|
NM_000051.4(ATM):c.5762+10T>C
|
rs1276744102
|
|
|
NM_000051.4(ATM):c.5762+1G>A
|
rs869312756
|
|
|
NM_000051.4(ATM):c.5762+1G>T
|
rs869312756
|
|
|
NM_000051.4(ATM):c.5762+7T>C
|
|
|
|
NM_000051.4(ATM):c.5762+7_5762+11del
|
|
|
|
NM_000051.4(ATM):c.5762+9A>G
|
rs1565486371
|
|
|
NM_000051.4(ATM):c.5762G>C (p.Arg1921Thr)
|
|
|
|
NM_000051.4(ATM):c.5763-11T>C
|
rs1057520675
|
|
|
NM_000051.4(ATM):c.5763-12A>G
|
rs1057523388
|
|
|
NM_000051.4(ATM):c.5763-13C>T
|
rs1057522554
|
|
|
NM_000051.4(ATM):c.5763-17_5763-16del
|
rs1064793040
|
|
|
NM_000051.4(ATM):c.5763-20T>C
|
|
|
|
NM_000051.4(ATM):c.5763-20_5763-18del
|
rs777468149
|
|
|
NM_000051.4(ATM):c.5763-2A>C
|
rs876659489
|
|
|
NM_000051.4(ATM):c.5763-2A>T
|
rs876659489
|
|
|
NM_000051.4(ATM):c.5763-3T>C
|
|
|
|
NM_000051.4(ATM):c.5763-5T>C
|
rs1555110219
|
|
|
NM_000051.4(ATM):c.5763-6C>T
|
|
|
|
NM_000051.4(ATM):c.5763-7T>C
|
rs1555110216
|
|
|
NM_000051.4(ATM):c.5763-7del
|
|
|
|
NM_000051.4(ATM):c.5763-8T>C
|
|
|
|
NM_000051.4(ATM):c.5765del (p.Pro1922fs)
|
rs786202814
|
|
|
NM_000051.4(ATM):c.5766T>G (p.Pro1922=)
|
|
|
|
NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del)
|
rs866749094
|
|
|
NM_000051.4(ATM):c.5769T>C (p.Ser1923=)
|
rs1060504280
|
|
|
NM_000051.4(ATM):c.576T>C (p.His192=)
|
|
|
|
NM_000051.4(ATM):c.5770del (p.Ser1924fs)
|
|
|
|
NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter)
|
rs876658831
|
|
|
NM_000051.4(ATM):c.5772A>G (p.Ser1924=)
|
|
|
|
NM_000051.4(ATM):c.5776_5790del (p.Thr1926_Asp1930del)
|
rs786203678
|
|
|
NM_000051.4(ATM):c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (p.Thr1926delinsArgSerSerLeuAspLeuTer)
|
|
|
|
NM_000051.4(ATM):c.5784T>C (p.Phe1928=)
|
rs1290871799
|
|
|
NM_000051.4(ATM):c.5784dup (p.Asn1929Ter)
|
rs1131691254
|
|
|
NM_000051.4(ATM):c.5787T>C (p.Asn1929=)
|
rs1057520448
|
|
|
NM_000051.4(ATM):c.578C>T (p.Ala193Val)
|
rs1064793928
|
|
|
NM_000051.4(ATM):c.5790T>C (p.Asp1930=)
|
rs1555110279
|
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
|
NM_000051.4(ATM):c.5793T>G (p.Ala1931=)
|
|
|
|
NM_000051.4(ATM):c.5795del (p.Phe1932fs)
|
|
|
|
NM_000051.4(ATM):c.5800C>T (p.Leu1934=)
|
|
|
|
NM_000051.4(ATM):c.5800_5803delinsATA (p.Leu1934fs)
|
|
|
|
NM_000051.4(ATM):c.5805_5809del (p.Asp1935fs)
|
|
|
|
NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs)
|
rs1591745745
|
|
|
NM_000051.4(ATM):c.5809_5813del (p.Asn1937fs)
|
|
|
|
NM_000051.4(ATM):c.5812T>A (p.Tyr1938Asn)
|
rs786203668
|
|
|
NM_000051.4(ATM):c.5814T>C (p.Tyr1938=)
|
|
|
|
NM_000051.4(ATM):c.5829G>A (p.Lys1943=)
|
|
|
|
NM_000051.4(ATM):c.5830G>C (p.Val1944Leu)
|
rs1555110379
|
|
|
NM_000051.4(ATM):c.5839del (p.Ser1947fs)
|
rs2136015541
|
|
|
NM_000051.4(ATM):c.584C>T (p.Thr195Ile)
|
rs1196611507
|
|
|
NM_000051.4(ATM):c.5850T>A (p.Ala1950=)
|
|
|
|
NM_000051.4(ATM):c.5856T>C (p.Phe1952=)
|
rs864622297
|
|
|
NM_000051.4(ATM):c.585C>T (p.Thr195=)
|
|
|
|
NM_000051.4(ATM):c.5865A>G (p.Leu1955=)
|
rs1555110432
|
|
|
NM_000051.4(ATM):c.5866C>T (p.Leu1956Phe)
|
rs1565489956
|
|
|
NM_000051.4(ATM):c.5868C>G (p.Leu1956=)
|
rs540054724
|
|
|
NM_000051.4(ATM):c.5870A>G (p.Tyr1957Cys)
|
rs1591746364
|
|
|
NM_000051.4(ATM):c.5870_5871del (p.Tyr1957fs)
|
rs1060501657
|
|
|
NM_000051.4(ATM):c.5871T>C (p.Tyr1957=)
|
rs2136017191
|
|
|
NM_000051.4(ATM):c.5874A>C (p.Ala1958=)
|
|
|
|
NM_000051.4(ATM):c.5874A>G (p.Ala1958=)
|
rs1591746375
|
|
|
NM_000051.4(ATM):c.5876A>G (p.Glu1959Gly)
|
rs876660515
|
|
|
NM_000051.4(ATM):c.5876A>T (p.Glu1959Val)
|
|
|
|
NM_000051.4(ATM):c.5878del (p.Ile1960fs)
|
|
|
|
NM_000051.4(ATM):c.5880C>A (p.Ile1960=)
|
|
|
|
NM_000051.4(ATM):c.5880C>T (p.Ile1960=)
|
|
|
|
NM_000051.4(ATM):c.5883T>C (p.Tyr1961=)
|
|
|
|
NM_000051.4(ATM):c.5889T>C (p.Asp1963=)
|
rs1555110490
|
|
|
NM_000051.4(ATM):c.588A>G (p.Lys196=)
|
rs2135224945
|
|
|
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)
|
rs201963507
|
|
|
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs)
|
rs587781727
|
|
|
NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs)
|
rs1555110517
|
|
|
NM_000051.4(ATM):c.5895A>G (p.Lys1965=)
|
rs1565490147
|
|
|
NM_000051.4(ATM):c.5895A>T (p.Lys1965Asn)
|
rs1565490147
|
|
|
NM_000051.4(ATM):c.5896del (p.Ser1966fs)
|
|
|
|
NM_000051.4(ATM):c.589G>A (p.Gly197Arg)
|
rs764080545
|
|
|
NM_000051.4(ATM):c.5904T>C (p.Asp1968=)
|
rs1555110549
|
|
|
NM_000051.4(ATM):c.5909A>G (p.Gln1970Arg)
|
rs1555110568
|
|
|
NM_000051.4(ATM):c.5910A>G (p.Gln1970=)
|
|
|
|
NM_000051.4(ATM):c.5910del (p.Glu1971fs)
|
rs587782198
|
|
|
NM_000051.4(ATM):c.5915A>C (p.Lys1972Thr)
|
rs730881377
|
|
|
NM_000051.4(ATM):c.5917del (p.Arg1973fs)
|
|
|
|
NM_000051.4(ATM):c.5918+10T>C
|
|
|
|
NM_000051.4(ATM):c.5918+14G>T
|
rs2136020496
|
|
|
NM_000051.4(ATM):c.5918+1G>A
|
rs1591746871
|
|
|
NM_000051.4(ATM):c.5918+1G>T
|
rs1591746871
|
|
|
NM_000051.4(ATM):c.5918+2T>C
|
|
|
|
NM_000051.4(ATM):c.5918+2T>G
|
|
|
|
NM_000051.4(ATM):c.5918+3A>G
|
rs1555110595
|
|
|
NM_000051.4(ATM):c.5918+8A>C
|
rs1401825950
|
|
|
NM_000051.4(ATM):c.5918+8A>T
|
|
|
|
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys)
|
rs1555110591
|
|
|
NM_000051.4(ATM):c.5919-10T>C
|
rs1565493312
|
|
|
NM_000051.4(ATM):c.5919-13T>C
|
rs1555111740
|
|
|
NM_000051.4(ATM):c.5919-18T>C
|
|
|
|
NM_000051.4(ATM):c.5919-18_5919-15dup
|
rs2136057696
|
|
|
NM_000051.4(ATM):c.5919-2A>G
|
rs746623393
|
|
|
NM_000051.4(ATM):c.5919-5A>C
|
|
|
|
NM_000051.4(ATM):c.5919-6A>G
|
|
|
|
NM_000051.4(ATM):c.5919-7C>T
|
|
|
|
NM_000051.4(ATM):c.5919-7_5919-6insCTGT
|
rs1239985928
|
|
|
NM_000051.4(ATM):c.591A>G (p.Gly197=)
|
rs587780630
|
|
|
NM_000051.4(ATM):c.5925T>G (p.Leu1975=)
|
rs2084241491
|
|
|
NM_000051.4(ATM):c.5931del (p.Phe1977fs)
|
rs1565493368
|
|
|
NM_000051.4(ATM):c.5934del (p.Glu1979fs)
|
|
|
|
NM_000051.4(ATM):c.5935G>T (p.Glu1979Ter)
|
rs1555111763
|
|
|
NM_000051.4(ATM):c.5937A>G (p.Glu1979=)
|
|
|
|
NM_000051.4(ATM):c.5937_5938delinsGT (p.Gly1980Ter)
|
|
|
|
NM_000051.4(ATM):c.5938_5939delinsA (p.Gly1980fs)
|
|
|
|
NM_000051.4(ATM):c.5940A>G (p.Gly1980=)
|
|
|
|
NM_000051.4(ATM):c.5943C>T (p.Ser1981=)
|
rs769252226
|
|
|
NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter)
|
rs1555111775
|
|
|
NM_000051.4(ATM):c.5948= (p.Ser1983=)
|
rs659243
|
|
|
NM_000051.4(ATM):c.5948G>A (p.Ser1983Asn)
|
rs659243
|
|
|
NM_000051.4(ATM):c.594C>T (p.Cys198=)
|
rs1591500282
|
|
|
NM_000051.4(ATM):c.5950A>T (p.Thr1984Ser)
|
rs1060501603
|
|
|
NM_000051.4(ATM):c.5951C>T (p.Thr1984Ile)
|
|
|
|
NM_000051.4(ATM):c.5955T>C (p.Thr1985=)
|
rs1555111801
|
|
|
NM_000051.4(ATM):c.5957T>C (p.Ile1986Thr)
|
rs2084246805
|
|
|
NM_000051.4(ATM):c.5958T>A (p.Ile1986=)
|
rs2136060867
|
|
|
NM_000051.4(ATM):c.5961T>C (p.Ser1987=)
|
rs1060504265
|
|
|
NM_000051.4(ATM):c.5961T>G (p.Ser1987=)
|
rs1060504265
|
|
|
NM_000051.4(ATM):c.5967G>A (p.Leu1989=)
|
rs1555111833
|
|
|
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)
|
rs786203404
|
|
|
NM_000051.4(ATM):c.5971_5979delinsA (p.Glu1991fs)
|
|
|
|
NM_000051.4(ATM):c.5972A>G (p.Glu1991Gly)
|
rs866824608
|
|
|
NM_000051.4(ATM):c.5977dup (p.Ser1993fs)
|
rs1591758642
|
|
|
NM_000051.4(ATM):c.5978_5981del (p.Ser1993fs)
|
rs2136061889
|
|
|
NM_000051.4(ATM):c.5979T>C (p.Ser1993=)
|
rs1591758734
|
|
|
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)
|
rs876660134
|
|
|
NM_000051.4(ATM):c.597T>A (p.Cys199Ter)
|
rs1565369633
|
|
|
NM_000051.4(ATM):c.597T>C (p.Cys199=)
|
rs1565369633
|
|
|
NM_000051.4(ATM):c.5982A>G (p.Lys1994=)
|
|
|
|
NM_000051.4(ATM):c.5982del (p.Glu1995fs)
|
rs1555111855
|
|
|
NM_000051.4(ATM):c.5982dup (p.Glu1995fs)
|
rs1555111855
|
|
|
NM_000051.4(ATM):c.5985A>G (p.Glu1995=)
|
rs2084252730
|
|
|
NM_000051.4(ATM):c.5991T>G (p.Thr1997=)
|
|
|
|
NM_000051.4(ATM):c.5991del (p.Gly1998fs)
|
rs1591758884
|
|
|
NM_000051.4(ATM):c.5996T>A (p.Ile1999Lys)
|
rs2136063107
|
|
|
NM_000051.4(ATM):c.6002T>C (p.Leu2001Ser)
|
rs1555111910
|
|
|
NM_000051.4(ATM):c.6002T>G (p.Leu2001Ter)
|
rs1555111910
|
|
|
NM_000051.4(ATM):c.6003A>G (p.Leu2001=)
|
rs1057523413
|
|
|
NM_000051.4(ATM):c.6004C>T (p.Gln2002Ter)
|
rs201136510
|
|
|
NM_000051.4(ATM):c.6006+1G>A
|
rs786202016
|
|
|
NM_000051.4(ATM):c.6006+1G>C
|
rs786202016
|
|
|
NM_000051.4(ATM):c.6006+1G>T
|
|
|
|
NM_000051.4(ATM):c.6006+7A>G
|
rs1060504289
|
|
|
NM_000051.4(ATM):c.6007-10A>C
|
|
|
|
NM_000051.4(ATM):c.6007-11C>T
|
rs764191468
|
|
|
NM_000051.4(ATM):c.6007-12C>T
|
|
|
|
NM_000051.4(ATM):c.6007-13T>C
|
|
|
|
NM_000051.4(ATM):c.6007-15T>C
|
|
|
|
NM_000051.4(ATM):c.6007-16G>T
|
|
|
|
NM_000051.4(ATM):c.6007-19G>A
|
rs1304200112
|
|
|
NM_000051.4(ATM):c.6007-1G>A
|
rs1365726807
|
|
|
NM_000051.4(ATM):c.6007-20del
|
|
|
|
NM_000051.4(ATM):c.6007-5T>C
|
rs863224294
|
|
|
NM_000051.4(ATM):c.6007-7T>C
|
|
|
|
NM_000051.4(ATM):c.6007-8G>A
|
rs1057524058
|
|
|
NM_000051.4(ATM):c.6007G>A (p.Asp2003Asn)
|
rs730881378
|
|
|
NM_000051.4(ATM):c.6009T>C (p.Asp2003=)
|
rs878853526
|
|
|
NM_000051.4(ATM):c.6013C>G (p.Leu2005Val)
|
|
|
|
NM_000051.4(ATM):c.6013delinsAA (p.Leu2005fs)
|
rs1555113523
|
|
|
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)
|
rs1438576066
|
|
|
NM_000051.4(ATM):c.6016T>C (p.Leu2006=)
|
rs1555113531
|
|
|
NM_000051.4(ATM):c.601C>T (p.Gln201Ter)
|
rs886039666
|
|
|
NM_000051.4(ATM):c.6021_6022dup (p.Ile2008fs)
|
|
|
|
NM_000051.4(ATM):c.6022A>G (p.Ile2008Val)
|
rs2084586855
|
|
|
NM_000051.4(ATM):c.6022del (p.Ile2008fs)
|
|
|
|
NM_000051.4(ATM):c.6024C>A (p.Ile2008=)
|
|
|
|
NM_000051.4(ATM):c.603G>A (p.Gln201=)
|
|
|
|
NM_000051.4(ATM):c.6040G>C (p.Glu2014Gln)
|
rs375783941
|
|
|
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)
|
rs375783941
|
|
|
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)
|
rs587781302
|
|
|
NM_000051.4(ATM):c.6048T>C (p.Asp2016=)
|
rs2136119590
|
|
|
NM_000051.4(ATM):c.6049_6052del (p.Ser2017fs)
|
rs1591776808
|
|
|
NM_000051.4(ATM):c.6049dup (p.Ser2017fs)
|
rs797045030
|
|
|
NM_000051.4(ATM):c.6054_6056dup (p.Tyr2019Ter)
|
|
|
|
NM_000051.4(ATM):c.6055dup (p.Tyr2019fs)
|
|
|
|
NM_000051.4(ATM):c.6060_6064dup (p.Gly2022fs)
|
|
|
|
NM_000051.4(ATM):c.6063_6064insA (p.Gly2022fs)
|
|
|
|
NM_000051.4(ATM):c.606_609del (p.Asp203_Gly204insTer)
|
rs876658548
|
|
|
NM_000051.4(ATM):c.6072G>A (p.Gly2024=)
|
rs1591777129
|
|
|
NM_000051.4(ATM):c.6072G>C (p.Gly2024=)
|
|
|
|
NM_000051.4(ATM):c.6073A>T (p.Lys2025Ter)
|
|
|
|
NM_000051.4(ATM):c.6082C>G (p.Gln2028Glu)
|
rs876659454
|
|
|
NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter)
|
rs876659454
|
|
|
NM_000051.4(ATM):c.6082del (p.Gln2028fs)
|
rs1565499093
|
|
|
NM_000051.4(ATM):c.6087C>T (p.Pro2029=)
|
rs1060504316
|
|
|
NM_000051.4(ATM):c.6093T>G (p.Thr2031=)
|
|
|
|
NM_000051.4(ATM):c.6095+2T>A
|
|
|
|
NM_000051.4(ATM):c.6095+2T>C
|
rs1057516525
|
|
|
NM_000051.4(ATM):c.6095+2T>G
|
|
|
|
NM_000051.4(ATM):c.6095+6T>C
|
rs1057522992
|
|
|
NM_000051.4(ATM):c.6095+7T>G
|
rs2136122461
|
|
|
NM_000051.4(ATM):c.6095+9C>A
|
|
|
|
NM_000051.4(ATM):c.6096-11T>C
|
|
|
|
NM_000051.4(ATM):c.6096-12C>T
|
|
|
|
NM_000051.4(ATM):c.6096-15A>T
|
|
|
|
NM_000051.4(ATM):c.6096-16C>T
|
|
|
|
NM_000051.4(ATM):c.6096-17A>G
|
|
|
|
NM_000051.4(ATM):c.6096-20T>C
|
rs746766702
|
|
|
NM_000051.4(ATM):c.6096-4A>T
|
|
|
|
NM_000051.4(ATM):c.6096-7C>T
|
|
|
|
NM_000051.4(ATM):c.6096-9_6096-5del
|
rs879254095
|
|
|
NM_000051.4(ATM):c.60T>C (p.Ala20=)
|
|
|
|
NM_000051.4(ATM):c.6100C>A (p.Arg2034=)
|
rs532480170
|
|
|
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)
|
rs532480170
|
|
|
NM_000051.4(ATM):c.6105A>T (p.Thr2035=)
|
rs1555113708
|
|
|
NM_000051.4(ATM):c.6105_6114del (p.Tyr2036fs)
|
|
|
|
NM_000051.4(ATM):c.6108T>G (p.Tyr2036Ter)
|
rs3092826
|
|
|
NM_000051.4(ATM):c.610G>T (p.Gly204Ter)
|
rs147915571
|
|
|
NM_000051.4(ATM):c.6114C>G (p.His2038Gln)
|
rs774993357
|
|
|
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)
|
rs864622251
|
|
|
NM_000051.4(ATM):c.6116A>T (p.Glu2039Val)
|
rs876659558
|
|
|
NM_000051.4(ATM):c.611G>T (p.Gly204Val)
|
rs1555066451
|
|
|
NM_000051.4(ATM):c.6120A>G (p.Ala2040=)
|
rs1565499622
|
|
|
NM_000051.4(ATM):c.6128dup (p.Lys2044fs)
|
rs1591778765
|
|
|
NM_000051.4(ATM):c.6129C>T (p.Gly2043=)
|
|
|
|
NM_000051.4(ATM):c.612A>G (p.Gly204=)
|
rs878853527
|
|
|
NM_000051.4(ATM):c.6130A>T (p.Lys2044Ter)
|
|
|
|
NM_000051.4(ATM):c.6133G>A (p.Ala2045Thr)
|
rs2084616257
|
|
|
NM_000051.4(ATM):c.6133del (p.Ala2045fs)
|
rs1555113762
|
|
|
NM_000051.4(ATM):c.6135C>T (p.Ala2045=)
|
rs1555113771
|
|
|
NM_000051.4(ATM):c.6141A>G (p.Val2047=)
|
rs978540099
|
|
|
NM_000051.4(ATM):c.6142del (p.Thr2048fs)
|
|
|
|
NM_000051.4(ATM):c.6144A>G (p.Thr2048=)
|
rs1201081443
|
|
|
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp)
|
rs786203767
|
|
|
NM_000051.4(ATM):c.6146_6147del (p.Thr2048_Tyr2049insTer)
|
rs1565499757
|
|
|
NM_000051.4(ATM):c.6147T>G (p.Tyr2049Ter)
|
|
|
|
NM_000051.4(ATM):c.614T>A (p.Leu205Ter)
|
|
|
|
NM_000051.4(ATM):c.6150C>T (p.Asp2050=)
|
rs1057520805
|
|
|
NM_000051.4(ATM):c.6157del (p.Thr2053fs)
|
|
|
|
NM_000051.4(ATM):c.6158del (p.Thr2053fs)
|
|
|
|
NM_000051.4(ATM):c.6159A>G (p.Thr2053=)
|
|
|
|
NM_000051.4(ATM):c.615A>G (p.Leu205=)
|
rs1555066455
|
|
|
NM_000051.4(ATM):c.6165C>A (p.Ile2055=)
|
rs779848229
|
|
|
NM_000051.4(ATM):c.6168C>T (p.Pro2056=)
|
rs1057520449
|
|
|
NM_000051.4(ATM):c.616A>C (p.Asn206His)
|
rs587781829
|
|
|
NM_000051.4(ATM):c.6171A>T (p.Ser2057=)
|
|
|
|
NM_000051.4(ATM):c.6172_6176del (p.Ser2058fs)
|
|
|
|
NM_000051.4(ATM):c.6173C>G (p.Ser2058Ter)
|
|
|
|
NM_000051.4(ATM):c.6173del (p.Ser2057_Ser2058insTer)
|
|
|
|
NM_000051.4(ATM):c.6175A>T (p.Thr2059Ser)
|
|
|
|
NM_000051.4(ATM):c.6177dup (p.Arg2060fs)
|
rs1591779373
|
|
|
NM_000051.4(ATM):c.6178C>T (p.Arg2060Cys)
|
rs587778078
|
|
|
NM_000051.4(ATM):c.6178_6182del (p.Arg2060fs)
|
|
|
|
NM_000051.4(ATM):c.6180C>T (p.Arg2060=)
|
rs2136131720
|
|
|
NM_000051.4(ATM):c.6181C>T (p.Gln2061Ter)
|
rs1555113845
|
|
|
NM_000051.4(ATM):c.6182dup (p.Ala2062fs)
|
|
|
|
NM_000051.4(ATM):c.6184dup (p.Ala2062fs)
|
rs2136131958
|
|
|
NM_000051.4(ATM):c.6188G>A (p.Gly2063Glu)
|
rs866290641
|
|
|
NM_000051.4(ATM):c.6189A>G (p.Gly2063=)
|
|
|
|
NM_000051.4(ATM):c.6194_6195del (p.Ile2065fs)
|
|
|
|
NM_000051.4(ATM):c.6194_6197dup (p.Gln2066fs)
|
|
|
|
NM_000051.4(ATM):c.6195T>C (p.Ile2065=)
|
rs756309395
|
|
|
NM_000051.4(ATM):c.6196C>G (p.Gln2066Glu)
|
rs1361215494
|
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
|
NM_000051.4(ATM):c.6198+2T>C
|
rs1555113882
|
|
|
NM_000051.4(ATM):c.6198+3A>G
|
rs786202092
|
|
|
NM_000051.4(ATM):c.6198+8T>G
|
rs2136133343
|
|
|
NM_000051.4(ATM):c.6198+9_6198+13delinsA
|
|
|
|
NM_000051.4(ATM):c.6199-11C>T
|
|
|
|
NM_000051.4(ATM):c.6199-13A>G
|
|
|
|
NM_000051.4(ATM):c.6199-14T>C
|
|
|
|
NM_000051.4(ATM):c.6199-16_6199-15del
|
|
|
|
NM_000051.4(ATM):c.6199-17A>C
|
rs1555114516
|
|
|
NM_000051.4(ATM):c.6199-19C>T
|
|
|
|
NM_000051.4(ATM):c.6199-19_6199-15del
|
|
|
|
NM_000051.4(ATM):c.6199-1G>T
|
rs1591788932
|
|
|
NM_000051.4(ATM):c.6199-20_6199-15del
|
rs1360645587
|
|
|
NM_000051.4(ATM):c.6199-20dup
|
rs2084768549
|
|
|
NM_000051.4(ATM):c.6199-6G>T
|
rs1555114529
|
|
|
NM_000051.4(ATM):c.6199-8C>T
|
rs1254806505
|
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
|
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser)
|
rs1555114558
|
|
|
NM_000051.4(ATM):c.6211T>C (p.Leu2071=)
|
rs928129862
|
|
|
NM_000051.4(ATM):c.6212T>A (p.Leu2071Ter)
|
rs1591789046
|
|
|
NM_000051.4(ATM):c.6214G>A (p.Gly2072Arg)
|
rs1555114568
|
|
|
NM_000051.4(ATM):c.6215del (p.Gly2072fs)
|
rs2084775383
|
|
|
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe)
|
rs767406075
|
|
|
NM_000051.4(ATM):c.621del (p.Lys208fs)
|
rs2079706212
|
|
|
NM_000051.4(ATM):c.6225T>C (p.His2075=)
|
|
|
|
NM_000051.4(ATM):c.6228del (p.Leu2077fs)
|
rs786203008
|
|
|
NM_000051.4(ATM):c.622A>C (p.Lys208Gln)
|
rs1292617227
|
|
|
NM_000051.4(ATM):c.6237C>G (p.Val2079=)
|
|
|
|
NM_000051.4(ATM):c.6239A>G (p.Tyr2080Cys)
|
rs587779855
|
|
|
NM_000051.4(ATM):c.6241T>C (p.Leu2081=)
|
|
|
|
NM_000051.4(ATM):c.6242T>A (p.Leu2081Ter)
|
rs2136164699
|
|
|
NM_000051.4(ATM):c.6246del (p.Gly2083fs)
|
|
|
|
NM_000051.4(ATM):c.6249A>G (p.Gly2083=)
|
|
|
|
NM_000051.4(ATM):c.624A>G (p.Lys208=)
|
|
|
|
NM_000051.4(ATM):c.6252G>A (p.Leu2084=)
|
rs876658700
|
|
|
NM_000051.4(ATM):c.6258T>C (p.Tyr2086=)
|
rs1565502999
|
|
|
NM_000051.4(ATM):c.6264T>C (p.Asn2088=)
|
rs747372417
|
|
|
NM_000051.4(ATM):c.6272G>A (p.Trp2091Ter)
|
rs1060501712
|
|
|
NM_000051.4(ATM):c.6273del (p.Trp2091fs)
|
rs1565503137
|
|
|
NM_000051.4(ATM):c.6276T>C (p.Cys2092=)
|
rs2136166722
|
|
|
NM_000051.4(ATM):c.6279T>C (p.Pro2093=)
|
rs141370828
|
|
|
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter)
|
rs1565503182
|
|
|
NM_000051.4(ATM):c.6280del (p.Glu2094fs)
|
rs1565503198
|
|
|
NM_000051.4(ATM):c.6284_6290dup (p.Glu2097fs)
|
|
|
|
NM_000051.4(ATM):c.6285A>G (p.Leu2095=)
|
rs1555114732
|
|
|
NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter)
|
rs1555114737
|
|
|
NM_000051.4(ATM):c.6293T>C (p.Leu2098Pro)
|
rs587780631
|
|
|
NM_000051.4(ATM):c.62_63del (p.Thr21fs)
|
|
|
|
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter)
|
rs1591789955
|
|
|
NM_000051.4(ATM):c.6300C>T (p.Tyr2100=)
|
|
|
|
NM_000051.4(ATM):c.6303A>G (p.Gln2101=)
|
rs876659325
|
|
|
NM_000051.4(ATM):c.6305C>T (p.Ala2102Val)
|
rs1591790037
|
|
|
NM_000051.4(ATM):c.6309A>G (p.Ala2103=)
|
rs2084789463
|
|
|
NM_000051.4(ATM):c.630G>A (p.Leu210=)
|
rs1565369739
|
|
|
NM_000051.4(ATM):c.6311G>A (p.Trp2104Ter)
|
rs1064794143
|
|
|
NM_000051.4(ATM):c.6313A>G (p.Arg2105Gly)
|
rs879253983
|
|
|
NM_000051.4(ATM):c.6319dup (p.Met2107fs)
|
|
|
|
NM_000051.4(ATM):c.6322C>T (p.Gln2108Ter)
|
|
|
|
NM_000051.4(ATM):c.6323A>G (p.Gln2108Arg)
|
rs773891864
|
|
|
NM_000051.4(ATM):c.6323dup (p.Trp2109fs)
|
rs2136169465
|
|
|
NM_000051.4(ATM):c.6324G>A (p.Gln2108=)
|
|
|
|
NM_000051.4(ATM):c.6324G>T (p.Gln2108His)
|
rs2136169496
|
|
|
NM_000051.4(ATM):c.6325T>G (p.Trp2109Gly)
|
rs1060501654
|
|
|
NM_000051.4(ATM):c.6325dup (p.Trp2109fs)
|
rs1555114812
|
|
|
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter)
|
rs587782114
|
|
|
NM_000051.4(ATM):c.6330C>T (p.Asp2110=)
|
rs759029705
|
|
|
NM_000051.4(ATM):c.6331_6332del (p.His2111fs)
|
|
|
|
NM_000051.4(ATM):c.6335G>A (p.Cys2112Tyr)
|
rs1591790360
|
|
|
NM_000051.4(ATM):c.6335del (p.Cys2112fs)
|
|
|
|
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser)
|
rs573290117
|
|
|
NM_000051.4(ATM):c.6342C>A (p.Ser2114=)
|
|
|
|
NM_000051.4(ATM):c.6342C>G (p.Ser2114=)
|
|
|
|
NM_000051.4(ATM):c.6342del (p.Val2115fs)
|
|
|
|
NM_000051.4(ATM):c.6347+1G>C
|
|
|
|
NM_000051.4(ATM):c.6347+1G>T
|
|
|
|
NM_000051.4(ATM):c.6347+9T>G
|
|
|
|
NM_000051.4(ATM):c.6348-12C>T
|
rs1057521664
|
|
|
NM_000051.4(ATM):c.6348-14_6348-10del
|
|
|
|
NM_000051.4(ATM):c.6348-18C>T
|
|
|
|
NM_000051.4(ATM):c.6348-19T>C
|
|
|
|
NM_000051.4(ATM):c.6348-19del
|
|
|
|
NM_000051.4(ATM):c.6348-19dup
|
|
|
|
NM_000051.4(ATM):c.6348-1G>A
|
rs1057517302
|
|
|
NM_000051.4(ATM):c.6348-1G>C
|
rs1057517302
|
|
|
NM_000051.4(ATM):c.6348-2A>G
|
rs864622367
|
|
|
NM_000051.4(ATM):c.6348-8T>A
|
|
|
|
NM_000051.4(ATM):c.6348-8del
|
|
|
|
NM_000051.4(ATM):c.6352G>T (p.Glu2118Ter)
|
|
|
|
NM_000051.4(ATM):c.6352del (p.Glu2118fs)
|
rs1555116357
|
|
|
NM_000051.4(ATM):c.6354A>G (p.Glu2118=)
|
rs2136218685
|
|
|
NM_000051.4(ATM):c.6357A>G (p.Val2119=)
|
rs1060504295
|
|
|
NM_000051.4(ATM):c.6357A>T (p.Val2119=)
|
rs1060504295
|
|
|
NM_000051.4(ATM):c.635T>C (p.Phe212Ser)
|
rs1591500544
|
|
|
NM_000051.4(ATM):c.6366C>G (p.Thr2122=)
|
|
|
|
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs)
|
rs1555116381
|
|
|
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)
|
rs2085078278
|
|
|
NM_000051.4(ATM):c.6371_6373delinsT (p.Tyr2124fs)
|
|
|
|
NM_000051.4(ATM):c.6371dup (p.Tyr2124Ter)
|
|
|
|
NM_000051.4(ATM):c.6372C>G (p.Tyr2124Ter)
|
|
|
|
NM_000051.4(ATM):c.6372C>T (p.Tyr2124=)
|
rs904589402
|
|
|
NM_000051.4(ATM):c.6375T>C (p.His2125=)
|
rs1591099942
|
|
|
NM_000051.4(ATM):c.6376dup (p.Glu2126fs)
|
|
|
|
NM_000051.4(ATM):c.6378A>G (p.Glu2126=)
|
rs1060504297
|
|
|
NM_000051.4(ATM):c.637T>C (p.Phe213Leu)
|
rs2079707663
|
|
|
NM_000051.4(ATM):c.6381A>G (p.Ser2127=)
|
rs1555116408
|
|
|
NM_000051.4(ATM):c.6383dup (p.Leu2128fs)
|
rs1198014194
|
|
|
NM_000051.4(ATM):c.6384G>A (p.Leu2128=)
|
rs1060501629
|
|
|
NM_000051.4(ATM):c.6387C>G (p.Tyr2129Ter)
|
rs2085081161
|
|
|
NM_000051.4(ATM):c.6387C>T (p.Tyr2129=)
|
rs2085081161
|
|
|
NM_000051.4(ATM):c.6387_6388dup (p.Asn2130fs)
|
|
|
|
NM_000051.4(ATM):c.6390T>C (p.Asn2130=)
|
rs1555116433
|
|
|
NM_000051.4(ATM):c.6392C>A (p.Ala2131Asp)
|
rs1060501594
|
|
|
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter)
|
rs876658163
|
|
|
NM_000051.4(ATM):c.6399A>G (p.Gln2133=)
|
rs750614487
|
|
|
NM_000051.4(ATM):c.6399del (p.Gln2133fs)
|
rs1555116451
|
|
|
NM_000051.4(ATM):c.6399dup (p.Ser2134fs)
|
rs1555116451
|
|
|
NM_000051.4(ATM):c.639_640del (p.Ser214fs)
|
|
|
|
NM_000051.4(ATM):c.63A>G (p.Thr21=)
|
rs199853729
|
|
|
NM_000051.4(ATM):c.6400T>C (p.Ser2134Pro)
|
rs758446561
|
|
|
NM_000051.4(ATM):c.6401_6404del (p.Gln2133_Ser2134insTer)
|
|
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
|
NM_000051.4(ATM):c.6405_6407delinsC (p.Asp2137fs)
|
|
|
|
NM_000051.4(ATM):c.6408A>G (p.Arg2136=)
|
rs1591100312
|
|
|
NM_000051.4(ATM):c.640del (p.Ser214fs)
|
rs786204543
|
|
|
NM_000051.4(ATM):c.640dup (p.Ser214fs)
|
rs786204543
|
|
|
NM_000051.4(ATM):c.6411C>T (p.Asp2137=)
|
|
|
|
NM_000051.4(ATM):c.6414A>G (p.Arg2138=)
|
rs1591100396
|
|
|
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)
|
rs1339238483
|
|
|
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs)
|
rs863225466
|
|
|
NM_000051.4(ATM):c.6418T>C (p.Phe2140Leu)
|
rs1397647612
|
|
|
NM_000051.4(ATM):c.6424A>G (p.Thr2142Ala)
|
rs1263398076
|
|
|
NM_000051.4(ATM):c.6426A>G (p.Thr2142=)
|
rs1591100486
|
|
|
NM_000051.4(ATM):c.642C>T (p.Ser214=)
|
rs1555066521
|
|
|
NM_000051.4(ATM):c.642del (p.Lys215fs)
|
rs876660315
|
|
|
NM_000051.4(ATM):c.6431A>G (p.Tyr2144Cys)
|
rs1555116507
|
|
|
NM_000051.4(ATM):c.6436A>G (p.Ser2146Gly)
|
rs2136222103
|
|
|
NM_000051.4(ATM):c.6441del (p.Lys2148fs)
|
|
|
|
NM_000051.4(ATM):c.6444dup (p.Tyr2149fs)
|
rs1555116533
|
|
|
NM_000051.4(ATM):c.644A>G (p.Lys215Arg)
|
rs755074633
|
|
|
NM_000051.4(ATM):c.6450C>G (p.Ala2150=)
|
|
|
|
NM_000051.4(ATM):c.6450dup (p.Arg2151fs)
|
rs2136222670
|
|
|
NM_000051.4(ATM):c.6452+6A>T
|
rs878853531
|
|
|
NM_000051.4(ATM):c.6452+7T>C
|
rs1555116551
|
|
|
NM_000051.4(ATM):c.6452+8G>A
|
rs2136223026
|
|
|
NM_000051.4(ATM):c.6452G>A (p.Arg2151Lys)
|
|
|
|
NM_000051.4(ATM):c.6453-13T>C
|
rs1555117056
|
|
|
NM_000051.4(ATM):c.6453-15C>T
|
rs763296454
|
|
|
NM_000051.4(ATM):c.6453-17T>C
|
|
|
|
NM_000051.4(ATM):c.6453-1G>C
|
rs1555117071
|
|
|
NM_000051.4(ATM):c.6453-3T>C
|
rs768073845
|
|
|
NM_000051.4(ATM):c.6453-5A>G
|
rs755177899
|
|
|
NM_000051.4(ATM):c.6453-9del
|
|
|
|
NM_000051.4(ATM):c.6456A>C (p.Val2152=)
|
|
|
|
NM_000051.4(ATM):c.645G>A (p.Lys215=)
|
rs2079708544
|
|
|
NM_000051.4(ATM):c.6462A>G (p.Glu2154=)
|
rs756453090
|
|
|
NM_000051.4(ATM):c.646G>T (p.Ala216Ser)
|
rs2235002
|
|
|
NM_000051.4(ATM):c.6471G>A (p.Glu2157=)
|
rs1555117097
|
|
|
NM_000051.4(ATM):c.6475T>C (p.Cys2159Arg)
|
rs150408832
|
|
|
NM_000051.4(ATM):c.6477T>G (p.Cys2159Trp)
|
rs587781789
|
|
|
NM_000051.4(ATM):c.6480G>A (p.Lys2160=)
|
rs2136239159
|
|
|
NM_000051.4(ATM):c.6482_6483dup (p.Ser2162fs)
|
rs1057516905
|
|
|
NM_000051.4(ATM):c.6486C>G (p.Ser2162Arg)
|
rs138166710
|
|
|
NM_000051.4(ATM):c.6489T>C (p.Leu2163=)
|
|
|
|
NM_000051.4(ATM):c.648T>A (p.Ala216=)
|
rs770270310
|
|
|
NM_000051.4(ATM):c.648T>C (p.Ala216=)
|
rs770270310
|
|
|
NM_000051.4(ATM):c.648T>G (p.Ala216=)
|
rs770270310
|
|
|
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr)
|
rs1555117132
|
|
|
NM_000051.4(ATM):c.6498G>A (p.Val2166=)
|
rs746514937
|
|
|
NM_000051.4(ATM):c.6498_6499del (p.Tyr2167fs)
|
rs1060501707
|
|
|
NM_000051.4(ATM):c.649_651dup (p.Ile217dup)
|
rs1565369864
|
|
|
NM_000051.4(ATM):c.6504G>T (p.Ser2168=)
|
|
|
|
NM_000051.4(ATM):c.6507C>T (p.Leu2169=)
|
|
|
|
NM_000051.4(ATM):c.650_653del (p.Ile217fs)
|
|
|
|
NM_000051.4(ATM):c.6513del (p.Thr2172fs)
|
|
|
|
NM_000051.4(ATM):c.6514del (p.Thr2172fs)
|
|
|
|
NM_000051.4(ATM):c.6519T>C (p.Leu2173=)
|
|
|
|
NM_000051.4(ATM):c.6519T>G (p.Leu2173=)
|
rs2136240892
|
|
|
NM_000051.4(ATM):c.6522C>A (p.Ser2174Arg)
|
rs772850740
|
|
|
NM_000051.4(ATM):c.6523A>C (p.Arg2175=)
|
rs2085199556
|
|
|
NM_000051.4(ATM):c.6525G>A (p.Arg2175=)
|
rs1555117190
|
|
|
NM_000051.4(ATM):c.6526_6532del (p.Leu2176fs)
|
rs2085199149
|
|
|
NM_000051.4(ATM):c.6527T>G (p.Leu2176Trp)
|
rs1555117194
|
|
|
NM_000051.4(ATM):c.6527_6530dup (p.Gln2177fs)
|
rs2085200653
|
|
|
NM_000051.4(ATM):c.6527del (p.Leu2176fs)
|
rs2136241341
|
|
|
NM_000051.4(ATM):c.6528G>A (p.Leu2176=)
|
rs2136241451
|
|
|
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter)
|
rs766706861
|
|
|
NM_000051.4(ATM):c.652C>T (p.Gln218Ter)
|
rs1555066551
|
|
|
NM_000051.4(ATM):c.6530A>C (p.Gln2177Pro)
|
rs1060501573
|
|
|
NM_000051.4(ATM):c.6537T>C (p.Ile2179=)
|
|
|
|
NM_000051.4(ATM):c.6543G>A (p.Glu2181=)
|
|
|
|
NM_000051.4(ATM):c.6546G>A (p.Leu2182=)
|
rs756551824
|
|
|
NM_000051.4(ATM):c.6549A>G (p.Glu2183=)
|
|
|
|
NM_000051.4(ATM):c.6552C>T (p.Ser2184=)
|
rs565124064
|
|
|
NM_000051.4(ATM):c.6556G>A (p.Gly2186Arg)
|
rs2136242830
|
|
|
NM_000051.4(ATM):c.6556G>C (p.Gly2186Arg)
|
|
|
|
NM_000051.4(ATM):c.6561G>A (p.Glu2187=)
|
|
|
|
NM_000051.4(ATM):c.6564T>C (p.Leu2188=)
|
|
|
|
NM_000051.4(ATM):c.6572+12G>A
|
rs3218677
|
|
|
NM_000051.4(ATM):c.6572+1G>A
|
rs587779856
|
|
|
NM_000051.4(ATM):c.6572+1G>C
|
|
|
|
NM_000051.4(ATM):c.6572+1G>T
|
rs587779856
|
|
|
NM_000051.4(ATM):c.6572+4T>A
|
|
|
|
NM_000051.4(ATM):c.6573-11G>A
|
rs375599653
|
|
|
NM_000051.4(ATM):c.6573-11G>C
|
|
|
|
NM_000051.4(ATM):c.6573-12C>A
|
rs1057521666
|
|
|
NM_000051.4(ATM):c.6573-12C>T
|
rs1057521666
|
|
|
NM_000051.4(ATM):c.6573-14G>C
|
|
|
|
NM_000051.4(ATM):c.6573-15T>C
|
|
|
|
NM_000051.4(ATM):c.6573-16A>T
|
|
|
|
NM_000051.4(ATM):c.6573-17T>C
|
|
|
|
NM_000051.4(ATM):c.6573-17_6573-16insCCCT
|
|
|
|
NM_000051.4(ATM):c.6573-18dup
|
|
|
|
NM_000051.4(ATM):c.6573-1G>A
|
rs1591128291
|
|
|
NM_000051.4(ATM):c.6573-1G>C
|
rs1591128291
|
|
|
NM_000051.4(ATM):c.6573-20C>T
|
|
|
|
NM_000051.4(ATM):c.6573-2del
|
|
|
|
NM_000051.4(ATM):c.6573-4T>C
|
|
|
|
NM_000051.4(ATM):c.6573-4dup
|
|
|
|
NM_000051.4(ATM):c.6573-5T>C
|
|
|
|
NM_000051.4(ATM):c.6573-8G>A
|
rs1555118989
|
|
|
NM_000051.4(ATM):c.6573-9G>A
|
rs1591128179
|
|
|
NM_000051.4(ATM):c.6575C>G (p.Ser2192Ter)
|
rs2136306738
|
|
|
NM_000051.4(ATM):c.6576A>G (p.Ser2192=)
|
rs2136306809
|
|
|
NM_000051.4(ATM):c.6577_6580dup (p.Thr2194fs)
|
|
|
|
NM_000051.4(ATM):c.6583C>T (p.His2195Tyr)
|
rs780946471
|
|
|
NM_000051.4(ATM):c.6585T>C (p.His2195=)
|
rs786203401
|
|
|
NM_000051.4(ATM):c.6585_6586del (p.His2195fs)
|
rs1555119004
|
|
|
NM_000051.4(ATM):c.6586A>C (p.Arg2196=)
|
rs1555119011
|
|
|
NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter)
|
rs1555119011
|
|
|
NM_000051.4(ATM):c.6588A>G (p.Arg2196=)
|
rs2136307484
|
|
|
NM_000051.4(ATM):c.6591A>G (p.Gln2197=)
|
rs863224296
|
|
|
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer)
|
rs747057367
|
|
|
NM_000051.4(ATM):c.659C>G (p.Ala220Gly)
|
|
|
|
NM_000051.4(ATM):c.6603A>G (p.Val2201=)
|
rs863224297
|
|
|
NM_000051.4(ATM):c.6608T>C (p.Ile2203Thr)
|
rs2085553784
|
|
|
NM_000051.4(ATM):c.6612G>A (p.Lys2204=)
|
rs876660650
|
|
|
NM_000051.4(ATM):c.6614G>A (p.Trp2205Ter)
|
|
|
|
NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter)
|
rs1555119041
|
|
|
NM_000051.4(ATM):c.661A>G (p.Arg221Gly)
|
rs2135227474
|
|
|
NM_000051.4(ATM):c.662+1G>A
|
rs1060501690
|
|
|
NM_000051.4(ATM):c.662+7T>C
|
rs2135227769
|
|
|
NM_000051.4(ATM):c.662+8_662+12del
|
rs864622475
|
|
|
NM_000051.4(ATM):c.662+8_662+9dup
|
rs1591500816
|
|
|
NM_000051.4(ATM):c.6622C>T (p.His2208Tyr)
|
rs1060501641
|
|
|
NM_000051.4(ATM):c.6628C>T (p.Gln2210Ter)
|
|
|
|
NM_000051.4(ATM):c.6628del (p.Gln2210fs)
|
rs886039616
|
|
|
NM_000051.4(ATM):c.663-10T>C
|
rs2135236361
|
|
|
NM_000051.4(ATM):c.663-12G>C
|
rs2135236291
|
|
|
NM_000051.4(ATM):c.663-15T>C
|
|
|
|
NM_000051.4(ATM):c.663-16G>C
|
|
|
|
NM_000051.4(ATM):c.663-194A>G
|
|
|
|
NM_000051.4(ATM):c.663-20G>A
|
|
|
|
NM_000051.4(ATM):c.663-5C>T
|
rs1591503207
|
|
|
NM_000051.4(ATM):c.663-8C>T
|
|
|
|
NM_000051.4(ATM):c.6633T>C (p.Leu2211=)
|
|
|
|
NM_000051.4(ATM):c.6633dup (p.Leu2212fs)
|
|
|
|
NM_000051.4(ATM):c.6635_6636del (p.Leu2212fs)
|
rs768909644
|
|
|
NM_000051.4(ATM):c.6638del (p.Lys2213fs)
|
|
|
|
NM_000051.4(ATM):c.6641A>G (p.Asp2214Gly)
|
|
|
|
NM_000051.4(ATM):c.6646G>A (p.Asp2216Asn)
|
rs1482691031
|
|
|
NM_000051.4(ATM):c.6649T>A (p.Phe2217Ile)
|
|
|
|
NM_000051.4(ATM):c.664C>T (p.Gln222Ter)
|
rs1555066917
|
|
|
NM_000051.4(ATM):c.6650_6657del (p.Phe2217fs)
|
rs864622326
|
|
|
NM_000051.4(ATM):c.6651T>C (p.Phe2217=)
|
|
|
|
NM_000051.4(ATM):c.6651dup (p.Ser2218Ter)
|
|
|
|
NM_000051.4(ATM):c.6654T>C (p.Ser2218=)
|
|
|
|
NM_000051.4(ATM):c.6657del (p.Gln2220fs)
|
rs876658603
|
|
|
NM_000051.4(ATM):c.6660G>A (p.Gln2220=)
|
|
|
|
NM_000051.4(ATM):c.6661_6673del (p.Glu2221fs)
|
|
|
|
NM_000051.4(ATM):c.6665del (p.Pro2222fs)
|
|
|
|
NM_000051.4(ATM):c.6666T>C (p.Pro2222=)
|
rs1591128954
|
|
|
NM_000051.4(ATM):c.6667_6701del (p.Ile2223fs)
|
|
|
|
NM_000051.4(ATM):c.6669C>T (p.Ile2223=)
|
|
|
|
NM_000051.4(ATM):c.666del (p.Glu223fs)
|
rs2135236778
|
|
|
NM_000051.4(ATM):c.6671dup (p.Met2224fs)
|
|
|
|
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer)
|
rs1591129041
|
|
|
NM_000051.4(ATM):c.6673dup (p.Ala2225fs)
|
rs587781872
|
|
|
NM_000051.4(ATM):c.6680G>A (p.Arg2227His)
|
rs879254132
|
|
|
NM_000051.4(ATM):c.6681C>A (p.Arg2227=)
|
rs775850434
|
|
|
NM_000051.4(ATM):c.6684A>C (p.Thr2228=)
|
|
|
|
NM_000051.4(ATM):c.6684dup (p.Val2229fs)
|
|
|
|
NM_000051.4(ATM):c.6686T>G (p.Val2229Gly)
|
rs1555119144
|
|
|
NM_000051.4(ATM):c.6695del (p.Glu2232fs)
|
|
|
|
NM_000051.4(ATM):c.6696G>A (p.Glu2232=)
|
|
|
|
NM_000051.4(ATM):c.6697A>C (p.Ile2233Leu)
|
rs1385625521
|
|
|
NM_000051.4(ATM):c.6699C>A (p.Ile2233=)
|
|
|
|
NM_000051.4(ATM):c.6699C>T (p.Ile2233=)
|
rs1555119149
|
|
|
NM_000051.4(ATM):c.669_673del (p.Lys224fs)
|
|
|
|
NM_000051.4(ATM):c.66A>G (p.Glu22=)
|
rs1185359350
|
|
|
NM_000051.4(ATM):c.6704T>C (p.Met2235Thr)
|
|
|
|
NM_000051.4(ATM):c.6706G>A (p.Glu2236Lys)
|
|
|
|
NM_000051.4(ATM):c.6710A>G (p.Lys2237Arg)
|
rs35118109
|
|
|
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs)
|
rs1591129337
|
|
|
NM_000051.4(ATM):c.6714A>G (p.Glu2238=)
|
|
|
|
NM_000051.4(ATM):c.6718G>C (p.Asp2240His)
|
rs587782478
|
|
|
NM_000051.4(ATM):c.6718del (p.Asp2240fs)
|
|
|
|
NM_000051.4(ATM):c.6723C>T (p.Asn2241=)
|
rs750763671
|
|
|
NM_000051.4(ATM):c.6727C>T (p.Gln2243Ter)
|
rs1565518711
|
|
|
NM_000051.4(ATM):c.6729A>G (p.Gln2243=)
|
rs763431129
|
|
|
NM_000051.4(ATM):c.672G>C (p.Lys224Asn)
|
rs769731317
|
|
|
NM_000051.4(ATM):c.6730dup (p.Arg2244fs)
|
rs1060501543
|
|
|
NM_000051.4(ATM):c.6732A>G (p.Arg2244=)
|
|
|
|
NM_000051.4(ATM):c.6733_6734del (p.Glu2245fs)
|
|
|
|
NM_000051.4(ATM):c.6738T>C (p.Cys2246=)
|
rs2136315409
|
|
|
NM_000051.4(ATM):c.6738dup (p.Ile2247fs)
|
|
|
|
NM_000051.4(ATM):c.6742A>G (p.Lys2248Glu)
|
rs1555119232
|
|
|
NM_000051.4(ATM):c.6742A>T (p.Lys2248Ter)
|
|
|
|
NM_000051.4(ATM):c.6743del (p.Lys2248fs)
|
|
|
|
NM_000051.4(ATM):c.6747del (p.Asp2249fs)
|
|
|
|
NM_000051.4(ATM):c.6752_6755dup (p.Lys2253fs)
|
rs863224461
|
|
|
NM_000051.4(ATM):c.6753C>T (p.Leu2251=)
|
rs1057521515
|
|
|
NM_000051.4(ATM):c.6754A>C (p.Thr2252Pro)
|
rs1262434611
|
|
|
NM_000051.4(ATM):c.6757A>G (p.Lys2253Glu)
|
rs863224578
|
|
|
NM_000051.4(ATM):c.6758A>C (p.Lys2253Thr)
|
rs786203332
|
|
|
NM_000051.4(ATM):c.6758A>G (p.Lys2253Arg)
|
rs786203332
|
|
|
NM_000051.4(ATM):c.6762C>T (p.His2254=)
|
rs563933875
|
|
|
NM_000051.4(ATM):c.6765T>C (p.Leu2255=)
|
rs587780637
|
|
|
NM_000051.4(ATM):c.6776_6777del (p.Ser2259fs)
|
rs1131691156
|
|
|
NM_000051.4(ATM):c.6777T>C (p.Ser2259=)
|
rs1057522874
|
|
|
NM_000051.4(ATM):c.6780A>C (p.Ile2260=)
|
|
|
|
NM_000051.4(ATM):c.6787A>C (p.Arg2263=)
|
|
|
|
NM_000051.4(ATM):c.678T>C (p.Ser226=)
|
rs2135237178
|
|
|
NM_000051.4(ATM):c.6795C>G (p.Phe2265Leu)
|
rs3218699
|
|
|
NM_000051.4(ATM):c.67C>A (p.Arg23=)
|
rs746235533
|
|
|
NM_000051.4(ATM):c.6801C>T (p.Asn2267=)
|
rs1591130210
|
|
|
NM_000051.4(ATM):c.6805C>G (p.Gln2269Glu)
|
rs2085584895
|
|
|
NM_000051.4(ATM):c.6805C>T (p.Gln2269Ter)
|
rs2085584895
|
|
|
NM_000051.4(ATM):c.6807+10A>C
|
|
|
|
NM_000051.4(ATM):c.6807+1G>A
|
|
|
|
NM_000051.4(ATM):c.6807+1G>T
|
|
|
|
NM_000051.4(ATM):c.6807+2T>C
|
rs2136319469
|
|
|
NM_000051.4(ATM):c.6807+2_6807+14del
|
|
|
|
NM_000051.4(ATM):c.6807+5A>G
|
|
|
|
NM_000051.4(ATM):c.6807+8C>A
|
rs1565519254
|
|
|
NM_000051.4(ATM):c.6807+8del
|
rs1555119385
|
|
|
NM_000051.4(ATM):c.6808-10T>C
|
rs2136330431
|
|
|
NM_000051.4(ATM):c.6808-11T>C
|
|
|
|
NM_000051.4(ATM):c.6808-12T>C
|
|
|
|
NM_000051.4(ATM):c.6808-14C>T
|
rs932081789
|
|
|
NM_000051.4(ATM):c.6808-16G>A
|
|
|
|
NM_000051.4(ATM):c.6808-18A>C
|
|
|
|
NM_000051.4(ATM):c.6808-18A>G
|
|
|
|
NM_000051.4(ATM):c.6808-18A>T
|
rs1166582977
|
|
|
NM_000051.4(ATM):c.6808-20A>T
|
|
|
|
NM_000051.4(ATM):c.6808-6T>C
|
rs995574419
|
|
|
NM_000051.4(ATM):c.680C>A (p.Ser227Ter)
|
|
|
|
NM_000051.4(ATM):c.680C>G (p.Ser227Ter)
|
rs762998620
|
|
|
NM_000051.4(ATM):c.6810C>G (p.Leu2270=)
|
|
|
|
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)
|
rs1565520117
|
|
|
NM_000051.4(ATM):c.6816A>G (p.Glu2272=)
|
rs1555119726
|
|
|
NM_000051.4(ATM):c.681A>G (p.Ser227=)
|
|
|
|
NM_000051.4(ATM):c.681dup (p.Gly228fs)
|
rs1591503359
|
|
|
NM_000051.4(ATM):c.6824T>C (p.Ile2275Thr)
|
rs1283858462
|
|
|
NM_000051.4(ATM):c.6829del (p.Gln2277fs)
|
rs2136332132
|
|
|
NM_000051.4(ATM):c.6831A>G (p.Gln2277=)
|
rs1339794219
|
|
|
NM_000051.4(ATM):c.6834_6838del (p.Lys2279fs)
|
|
|
|
NM_000051.4(ATM):c.6838C>T (p.Gln2280Ter)
|
rs1565520246
|
|
|
NM_000051.4(ATM):c.6838_6839dup (p.Gln2280fs)
|
rs2136332542
|
|
|
NM_000051.4(ATM):c.6840_6844del (p.Tyr2281fs)
|
rs2136332584
|
|
|
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
|
|
|
|
NM_000051.4(ATM):c.6843C>G (p.Tyr2281Ter)
|
rs1555119797
|
|
|
NM_000051.4(ATM):c.6843C>T (p.Tyr2281=)
|
|
|
|
NM_000051.4(ATM):c.6845A>C (p.Asn2282Thr)
|
|
|
|
NM_000051.4(ATM):c.6845A>G (p.Asn2282Ser)
|
rs863224579
|
|
|
NM_000051.4(ATM):c.6849A>C (p.Ser2283=)
|
|
|
|
NM_000051.4(ATM):c.6849A>G (p.Ser2283=)
|
|
|
|
NM_000051.4(ATM):c.684T>C (p.Gly228=)
|
rs1591503368
|
|
|
NM_000051.4(ATM):c.684T>G (p.Gly228=)
|
|
|
|
NM_000051.4(ATM):c.684_687delinsCCT (p.Asn230fs)
|
rs2135237416
|
|
|
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)
|
rs1800061
|
|
|
NM_000051.4(ATM):c.6861A>C (p.Gly2287=)
|
rs2136333918
|
|
|
NM_000051.4(ATM):c.6864C>T (p.Val2288=)
|
rs2136334108
|
|
|
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)
|
rs1555119834
|
|
|
NM_000051.4(ATM):c.6869A>C (p.Glu2290Ala)
|
rs1555119842
|
|
|
NM_000051.4(ATM):c.6869_6879del (p.Glu2290fs)
|
|
|
|
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter)
|
rs2136334561
|
|
|
NM_000051.4(ATM):c.6874C>T (p.Gln2292Ter)
|
|
|
|
NM_000051.4(ATM):c.6877C>T (p.Leu2293=)
|
|
|
|
NM_000051.4(ATM):c.6879G>A (p.Leu2293=)
|
rs1555119859
|
|
|
NM_000051.4(ATM):c.687A>C (p.Leu229=)
|
rs3218706
|
|
|
NM_000051.4(ATM):c.687A>G (p.Leu229=)
|
rs3218706
|
|
|
NM_000051.4(ATM):c.6880G>A (p.Glu2294Lys)
|
|
|
|
NM_000051.4(ATM):c.6880del (p.Glu2294fs)
|
|
|
|
NM_000051.4(ATM):c.6885A>G (p.Glu2295=)
|
rs748221367
|
|
|
NM_000051.4(ATM):c.6886del (p.Ala2296fs)
|
|
|
|
NM_000051.4(ATM):c.6889C>T (p.Gln2297Ter)
|
|
|
|
NM_000051.4(ATM):c.6889dup (p.Gln2297fs)
|
|
|
|
NM_000051.4(ATM):c.6894A>G (p.Val2298=)
|
rs2136335688
|
|
|
NM_000051.4(ATM):c.6894del (p.Phe2299fs)
|
|
|
|
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly)
|
rs1565520641
|
|
|
NM_000051.4(ATM):c.6899G>A (p.Trp2300Ter)
|
|
|
|
NM_000051.4(ATM):c.689del (p.Asn230fs)
|
rs1057518965
|
|
|
NM_000051.4(ATM):c.68G>A (p.Arg23Gln)
|
rs587779858
|
|
|
NM_000051.4(ATM):c.6900G>A (p.Trp2300Ter)
|
|
|
|
NM_000051.4(ATM):c.6900G>C (p.Trp2300Cys)
|
rs1591133875
|
|
|
NM_000051.4(ATM):c.6901G>A (p.Ala2301Thr)
|
rs1060501668
|
|
|
NM_000051.4(ATM):c.6902C>A (p.Ala2301Glu)
|
|
|
|
NM_000051.4(ATM):c.6903A>T (p.Ala2301=)
|
|
|
|
NM_000051.4(ATM):c.6908dup (p.Glu2304fs)
|
rs773570504
|
|
|
NM_000051.4(ATM):c.6912G>A (p.Glu2304=)
|
|
|
|
NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter)
|
rs1282099124
|
|
|
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)
|
rs878853535
|
|
|
NM_000051.4(ATM):c.6918T>C (p.Ser2306=)
|
rs1555119959
|
|
|
NM_000051.4(ATM):c.6921T>G (p.Leu2307=)
|
rs1555119966
|
|
|
NM_000051.4(ATM):c.6924C>T (p.Ala2308=)
|
rs759878732
|
|
|
NM_000051.4(ATM):c.6927G>A (p.Leu2309=)
|
rs876660429
|
|
|
NM_000051.4(ATM):c.6930T>C (p.Ser2310=)
|
rs876660710
|
|
|
NM_000051.4(ATM):c.6933T>C (p.Ile2311=)
|
|
|
|
NM_000051.4(ATM):c.6933del (p.Leu2312fs)
|
|
|
|
NM_000051.4(ATM):c.693T>C (p.His231=)
|
rs1555066993
|
|
|
NM_000051.4(ATM):c.6949A>T (p.Lys2317Ter)
|
|
|
|
NM_000051.4(ATM):c.6951_6952del (p.Lys2318fs)
|
rs2136339054
|
|
|
NM_000051.4(ATM):c.6954G>A (p.Lys2318=)
|
rs1555120044
|
|
|
NM_000051.4(ATM):c.6957G>A (p.Leu2319=)
|
rs2085667000
|
|
|
NM_000051.4(ATM):c.6959A>G (p.Asp2320Gly)
|
rs1060501640
|
|
|
NM_000051.4(ATM):c.6963C>T (p.Ala2321=)
|
rs1555120057
|
|
|
NM_000051.4(ATM):c.6968G>T (p.Cys2323Phe)
|
rs876660924
|
|
|
NM_000051.4(ATM):c.696C>A (p.Ile232=)
|
|
|
|
NM_000051.4(ATM):c.696C>T (p.Ile232=)
|
rs1591503507
|
|
|
NM_000051.4(ATM):c.6975+13dup
|
rs763287238
|
|
|
NM_000051.4(ATM):c.6975+1G>A
|
rs1565521129
|
|
|
NM_000051.4(ATM):c.6975+2T>C
|
rs879254199
|
|
|
NM_000051.4(ATM):c.6975+4T>A
|
rs876660240
|
|
|
NM_000051.4(ATM):c.6975+7T>G
|
rs754834282
|
|
|
NM_000051.4(ATM):c.6975G>A (p.Ala2325=)
|
rs556778314
|
|
|
NM_000051.4(ATM):c.6975G>C (p.Ala2325=)
|
rs556778314
|
|
|
NM_000051.4(ATM):c.6976-10_6989del
|
rs587779859
|
|
|
NM_000051.4(ATM):c.6976-11T>C
|
rs1565523441
|
|
|
NM_000051.4(ATM):c.6976-14C>T
|
|
|
|
NM_000051.4(ATM):c.6976-15G>A
|
|
|
|
NM_000051.4(ATM):c.6976-15G>T
|
|
|
|
NM_000051.4(ATM):c.6976-16T>C
|
|
|
|
NM_000051.4(ATM):c.6976-19T>C
|
rs1026199027
|
|
|
NM_000051.4(ATM):c.6976-1G>T
|
rs1591141963
|
|
|
NM_000051.4(ATM):c.6976-2A>C
|
rs587782403
|
|
|
NM_000051.4(ATM):c.6976-2del
|
|
|
|
NM_000051.4(ATM):c.6976-4A>T
|
|
|
|
NM_000051.4(ATM):c.6976-5T>C
|
rs1555120913
|
|
|
NM_000051.4(ATM):c.6976-6A>G
|
rs2136372183
|
|
|
NM_000051.4(ATM):c.6981T>C (p.Asn2327=)
|
|
|
|
NM_000051.4(ATM):c.6983C>T (p.Pro2328Leu)
|
rs786202730
|
|
|
NM_000051.4(ATM):c.6990A>C (p.Leu2330=)
|
|
|
|
NM_000051.4(ATM):c.6990A>G (p.Leu2330=)
|
rs2136373497
|
|
|
NM_000051.4(ATM):c.6995_6998del (p.Leu2332fs)
|
|
|
|
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)
|
rs150503164
|
|
|
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)
|
rs150503164
|
|
|
NM_000051.4(ATM):c.6999A>G (p.Thr2333=)
|
rs759267807
|
|
|
NM_000051.4(ATM):c.699A>G (p.Leu233=)
|
rs1555067006
|
|
|
NM_000051.4(ATM):c.69A>T (p.Arg23=)
|
|
|
|
NM_000051.4(ATM):c.7000T>C (p.Tyr2334His)
|
rs1064793312
|
|
|
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs)
|
rs786203421
|
|
|
NM_000051.4(ATM):c.7005A>G (p.Thr2335=)
|
rs1555120978
|
|
|
NM_000051.4(ATM):c.7008A>G (p.Glu2336=)
|
rs2136374637
|
|
|
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs)
|
rs864622416
|
|
|
NM_000051.4(ATM):c.7011_7012delinsAA (p.Cys2337_Leu2338delinsTer)
|
|
|
|
NM_000051.4(ATM):c.7012C>T (p.Leu2338=)
|
rs1555120990
|
|
|
NM_000051.4(ATM):c.7013T>C (p.Leu2338Pro)
|
rs1555120997
|
|
|
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs)
|
rs1591142418
|
|
|
NM_000051.4(ATM):c.7013dup (p.Arg2339fs)
|
|
|
|
NM_000051.4(ATM):c.7015_7031del (p.Arg2339fs)
|
|
|
|
NM_000051.4(ATM):c.7020T>G (p.Val2340=)
|
|
|
|
NM_000051.4(ATM):c.7023T>C (p.Cys2341=)
|
rs878853537
|
|
|
NM_000051.4(ATM):c.7029C>T (p.Asn2343=)
|
rs1251099495
|
|
|
NM_000051.4(ATM):c.7030_7043del (p.Trp2344fs)
|
|
|
|
NM_000051.4(ATM):c.7031G>A (p.Trp2344Ter)
|
|
|
|
NM_000051.4(ATM):c.7037C>T (p.Ala2346Val)
|
rs2085819145
|
|
|
NM_000051.4(ATM):c.703G>A (p.Ala235Thr)
|
rs76379269
|
|
|
NM_000051.4(ATM):c.7044G>C (p.Thr2348=)
|
|
|
|
NM_000051.4(ATM):c.7044G>T (p.Thr2348=)
|
rs140104789
|
|
|
NM_000051.4(ATM):c.704del (p.Ala235fs)
|
rs1591503565
|
|
|
NM_000051.4(ATM):c.7050A>G (p.Leu2350=)
|
rs1555121076
|
|
|
NM_000051.4(ATM):c.7052A>G (p.Glu2351Gly)
|
rs1591142696
|
|
|
NM_000051.4(ATM):c.7059T>C (p.Pro2353=)
|
|
|
|
NM_000051.4(ATM):c.705T>C (p.Ala235=)
|
rs756175724
|
|
|
NM_000051.4(ATM):c.7062G>C (p.Ala2354=)
|
rs143489373
|
|
|
NM_000051.4(ATM):c.7064T>A (p.Val2355Asp)
|
rs1197214197
|
|
|
NM_000051.4(ATM):c.7065C>T (p.Val2355=)
|
rs2136378354
|
|
|
NM_000051.4(ATM):c.7066A>G (p.Ile2356Val)
|
rs876658517
|
|
|
NM_000051.4(ATM):c.7066_7081del (p.Val2355_Ile2356insTer)
|
rs886039502
|
|
|
NM_000051.4(ATM):c.7069_7081del (p.Ile2356_Met2357insTer)
|
|
|
|
NM_000051.4(ATM):c.706_707del (p.Leu236fs)
|
|
|
|
NM_000051.4(ATM):c.706dup (p.Leu236fs)
|
rs2135238203
|
|
|
NM_000051.4(ATM):c.7070_7072dup (p.Met2357_Gln2358insLeu)
|
rs1591142874
|
|
|
NM_000051.4(ATM):c.7071G>A (p.Met2357Ile)
|
rs753951063
|
|
|
NM_000051.4(ATM):c.7074G>A (p.Gln2358=)
|
rs1060501593
|
|
|
NM_000051.4(ATM):c.7076C>A (p.Thr2359Asn)
|
rs730881314
|
|
|
NM_000051.4(ATM):c.7076_7085del (p.Thr2359fs)
|
|
|
|
NM_000051.4(ATM):c.7077_7078dup (p.Tyr2360fs)
|
rs2136379109
|
|
|
NM_000051.4(ATM):c.7078T>C (p.Tyr2360His)
|
rs587779860
|
|
|
NM_000051.4(ATM):c.707_708dup (p.Thr237fs)
|
|
|
|
NM_000051.4(ATM):c.7080T>C (p.Tyr2360=)
|
rs1555121147
|
|
|
NM_000051.4(ATM):c.7081C>A (p.Leu2361Ile)
|
rs1412288141
|
|
|
NM_000051.4(ATM):c.7081C>T (p.Leu2361=)
|
rs1412288141
|
|
|
NM_000051.4(ATM):c.7082T>C (p.Leu2361Pro)
|
rs1169558907
|
|
|
NM_000051.4(ATM):c.7088del (p.Lys2363fs)
|
rs876658512
|
|
|
NM_000051.4(ATM):c.7089+1G>A
|
rs777741666
|
|
|
NM_000051.4(ATM):c.7089+1G>T
|
rs777741666
|
|
|
NM_000051.4(ATM):c.7089+1_7089+38del
|
rs2085827807
|
|
|
NM_000051.4(ATM):c.708del (p.Thr237fs)
|
rs1555067034
|
|
|
NM_000051.4(ATM):c.7090-12G>C
|
|
|
|
NM_000051.4(ATM):c.7090-14G>A
|
rs1486032156
|
|
|
NM_000051.4(ATM):c.7090-14G>T
|
rs1486032156
|
|
|
NM_000051.4(ATM):c.7090-16T>C
|
|
|
|
NM_000051.4(ATM):c.7090-17G>A
|
|
|
|
NM_000051.4(ATM):c.7090-17G>C
|
rs1555121895
|
|
|
NM_000051.4(ATM):c.7090-18G>T
|
|
|
|
NM_000051.4(ATM):c.7090-1G>A
|
|
|
|
NM_000051.4(ATM):c.7090-2A>T
|
|
|
|
NM_000051.4(ATM):c.7090-4G>T
|
|
|
|
NM_000051.4(ATM):c.7090-6T>C
|
rs2085972331
|
|
|
NM_000051.4(ATM):c.7092A>G (p.Ala2364=)
|
rs1591150359
|
|
|
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)
|
rs587781672
|
|
|
NM_000051.4(ATM):c.7099G>C (p.Val2367Leu)
|
rs1060501647
|
|
|
NM_000051.4(ATM):c.7101T>G (p.Val2367=)
|
|
|
|
NM_000051.4(ATM):c.7107A>C (p.Gly2369=)
|
rs1057523056
|
|
|
NM_000051.4(ATM):c.7107A>G (p.Gly2369=)
|
rs1057523056
|
|
|
NM_000051.4(ATM):c.710del (p.Thr237fs)
|
rs1060501642
|
|
|
NM_000051.4(ATM):c.7111T>G (p.Tyr2371Asp)
|
rs1555121956
|
|
|
NM_000051.4(ATM):c.7113T>A (p.Tyr2371Ter)
|
|
|
|
NM_000051.4(ATM):c.7113T>C (p.Tyr2371=)
|
rs760534895
|
|
|
NM_000051.4(ATM):c.7115del (p.Asp2372fs)
|
|
|
|
NM_000051.4(ATM):c.7119A>G (p.Gly2373=)
|
|
|
|
NM_000051.4(ATM):c.711T>C (p.Thr237=)
|
rs1294159555
|
|
|
NM_000051.4(ATM):c.7121A>C (p.Glu2374Ala)
|
rs587782225
|
|
|
NM_000051.4(ATM):c.7125T>C (p.Ser2375=)
|
rs878853539
|
|
|
NM_000051.4(ATM):c.7128T>C (p.Ser2376=)
|
rs2136412428
|
|
|
NM_000051.4(ATM):c.7137A>G (p.Leu2379=)
|
|
|
|
NM_000051.4(ATM):c.7140A>G (p.Arg2380=)
|
rs750569023
|
|
|
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs)
|
rs1555122030
|
|
|
NM_000051.4(ATM):c.7146A>G (p.Gly2382=)
|
|
|
|
NM_000051.4(ATM):c.7151T>C (p.Met2384Thr)
|
rs1215010771
|
|
|
NM_000051.4(ATM):c.7152_7159del (p.Met2384fs)
|
|
|
|
NM_000051.4(ATM):c.7158A>G (p.Ala2386=)
|
rs2136414393
|
|
|
NM_000051.4(ATM):c.7159_7160insAGCC (p.Phe2387Ter)
|
rs1591150887
|
|
|
NM_000051.4(ATM):c.7163_7166del (p.Leu2388fs)
|
rs2085980902
|
|
|
NM_000051.4(ATM):c.7164C>A (p.Leu2388=)
|
rs1239532344
|
|
|
NM_000051.4(ATM):c.7164C>G (p.Leu2388=)
|
rs1239532344
|
|
|
NM_000051.4(ATM):c.7164C>T (p.Leu2388=)
|
rs1239532344
|
|
|
NM_000051.4(ATM):c.7166C>A (p.Ser2389Ter)
|
rs1018140779
|
|
|
NM_000051.4(ATM):c.7166C>G (p.Ser2389Ter)
|
rs1018140779
|
|
|
NM_000051.4(ATM):c.7166C>T (p.Ser2389Leu)
|
rs1018140779
|
|
|
NM_000051.4(ATM):c.7167A>G (p.Ser2389=)
|
|
|
|
NM_000051.4(ATM):c.7169T>A (p.Leu2390Ter)
|
|
|
|
NM_000051.4(ATM):c.717_720del (p.Phe239fs)
|
rs587782660
|
|
|
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)
|
rs587779861
|
|
|
NM_000051.4(ATM):c.7182A>G (p.Ser2394=)
|
rs976994998
|
|
|
NM_000051.4(ATM):c.7182A>T (p.Ser2394=)
|
rs976994998
|
|
|
NM_000051.4(ATM):c.7184A>T (p.Asp2395Val)
|
rs1555122090
|
|
|
NM_000051.4(ATM):c.7187_7190del (p.Thr2396fs)
|
|
|
|
NM_000051.4(ATM):c.7193dup (p.Tyr2398Ter)
|
|
|
|
NM_000051.4(ATM):c.7195C>T (p.Gln2399Ter)
|
rs2085985186
|
|
|
NM_000051.4(ATM):c.7198A>C (p.Arg2400=)
|
rs777423778
|
|
|
NM_000051.4(ATM):c.719T>G (p.Leu240Arg)
|
rs876658753
|
|
|
NM_000051.4(ATM):c.71del (p.Lys24fs)
|
|
|
|
NM_000051.4(ATM):c.72+10T>C
|
|
|
|
NM_000051.4(ATM):c.72+2T>C
|
rs1591446206
|
|
|
NM_000051.4(ATM):c.72+4G>A
|
rs1458884973
|
|
|
NM_000051.4(ATM):c.72+8dup
|
|
|
|
NM_000051.4(ATM):c.72+9T>C
|
rs2135007450
|
|
|
NM_000051.4(ATM):c.7200A>G (p.Arg2400=)
|
rs1060501534
|
|
|
NM_000051.4(ATM):c.7201A>G (p.Ile2401Val)
|
rs1565526813
|
|
|
NM_000051.4(ATM):c.7202T>C (p.Ile2401Thr)
|
rs1555122117
|
|
|
NM_000051.4(ATM):c.7202T>G (p.Ile2401Ser)
|
|
|
|
NM_000051.4(ATM):c.7203del (p.Ile2401fs)
|
rs2136417490
|
|
|
NM_000051.4(ATM):c.720C>G (p.Leu240=)
|
|
|
|
NM_000051.4(ATM):c.720C>T (p.Leu240=)
|
rs1254593530
|
|
|
NM_000051.4(ATM):c.7213A>C (p.Met2405Leu)
|
rs587781323
|
|
|
NM_000051.4(ATM):c.7218A>G (p.Lys2406=)
|
rs1321705346
|
|
|
NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter)
|
rs1555122149
|
|
|
NM_000051.4(ATM):c.7221del (p.Ser2408fs)
|
|
|
|
NM_000051.4(ATM):c.7223C>T (p.Ser2408Leu)
|
rs730881315
|
|
|
NM_000051.4(ATM):c.7229T>C (p.Phe2410Ser)
|
rs758351633
|
|
|
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)
|
rs786203311
|
|
|
NM_000051.4(ATM):c.7239G>A (p.Lys2413=)
|
rs1555122182
|
|
|
NM_000051.4(ATM):c.7240C>T (p.Gln2414Ter)
|
rs863224462
|
|
|
NM_000051.4(ATM):c.7241_7244del (p.Gln2414fs)
|
rs1591151678
|
|
|
NM_000051.4(ATM):c.7242A>G (p.Gln2414=)
|
rs761907546
|
|
|
NM_000051.4(ATM):c.7247_7248del (p.Leu2416fs)
|
|
|
|
NM_000051.4(ATM):c.7248C>T (p.Leu2416=)
|
rs750513866
|
|
|
NM_000051.4(ATM):c.7257A>G (p.Arg2419=)
|
rs1591151857
|
|
|
NM_000051.4(ATM):c.7260C>T (p.Ala2420=)
|
|
|
|
NM_000051.4(ATM):c.7265A>G (p.Glu2422Gly)
|
rs758614348
|
|
|
NM_000051.4(ATM):c.7267_7270delinsTAC (p.Glu2423fs)
|
rs1591152021
|
|
|
NM_000051.4(ATM):c.726T>C (p.Thr242=)
|
rs1555067070
|
|
|
NM_000051.4(ATM):c.7278C>T (p.Leu2426=)
|
rs2136422492
|
|
|
NM_000051.4(ATM):c.7284G>A (p.Arg2428=)
|
rs1591152279
|
|
|
NM_000051.4(ATM):c.728dup (p.Leu243fs)
|
rs2135238938
|
|
|
NM_000051.4(ATM):c.7297del (p.Gln2433fs)
|
rs2136423753
|
|
|
NM_000051.4(ATM):c.7298A>T (p.Gln2433Leu)
|
rs1591152450
|
|
|
NM_000051.4(ATM):c.7299G>A (p.Gln2433=)
|
rs1057520451
|
|
|
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs)
|
rs886039628
|
|
|
NM_000051.4(ATM):c.7299del (p.Thr2434fs)
|
|
|
|
NM_000051.4(ATM):c.729_741del (p.Leu243fs)
|
rs2079760023
|
|
|
NM_000051.4(ATM):c.73-10T>C
|
|
|
|
NM_000051.4(ATM):c.73-11T>C
|
|
|
|
NM_000051.4(ATM):c.73-12T>C
|
rs2078815559
|
|
|
NM_000051.4(ATM):c.73-14C>T
|
|
|
|
NM_000051.4(ATM):c.73-16T>C
|
|
|
|
NM_000051.4(ATM):c.73-1G>A
|
rs1555054043
|
|
|
NM_000051.4(ATM):c.73-25ATT[2]
|
|
|
|
NM_000051.4(ATM):c.7302A>G (p.Thr2434=)
|
rs752125292
|
|
|
NM_000051.4(ATM):c.7307+1G>A
|
rs2086003529
|
|
|
NM_000051.4(ATM):c.7307+7A>G
|
|
|
|
NM_000051.4(ATM):c.7307+8G>A
|
|
|
|
NM_000051.4(ATM):c.7307+8G>C
|
rs1057523631
|
|
|
NM_000051.4(ATM):c.7307+9del
|
|
|
|
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)
|
rs786203394
|
|
|
NM_000051.4(ATM):c.7308-10T>C
|
rs745319720
|
|
|
NM_000051.4(ATM):c.7308-10dup
|
rs1555122910
|
|
|
NM_000051.4(ATM):c.7308-11T>C
|
rs1565529149
|
|
|
NM_000051.4(ATM):c.7308-14T>G
|
|
|
|
NM_000051.4(ATM):c.7308-17T>C
|
|
|
|
NM_000051.4(ATM):c.7308-1G>C
|
rs1555122941
|
|
|
NM_000051.4(ATM):c.7308-2A>C
|
rs1555122938
|
|
|
NM_000051.4(ATM):c.7308-3A>G
|
|
|
|
NM_000051.4(ATM):c.7308-4C>T
|
|
|
|
NM_000051.4(ATM):c.7308-6T>C
|
rs574836628
|
|
|
NM_000051.4(ATM):c.7308-7A>G
|
rs1476284330
|
|
|
NM_000051.4(ATM):c.7308-8T>C
|
rs1555122924
|
|
|
NM_000051.4(ATM):c.7308-9C>T
|
rs878853541
|
|
|
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)
|
rs763470424
|
|
|
NM_000051.4(ATM):c.7311C>G (p.Tyr2437Ter)
|
|
|
|
NM_000051.4(ATM):c.7311C>T (p.Tyr2437=)
|
rs763470424
|
|
|
NM_000051.4(ATM):c.7311_7314del (p.Arg2436_Tyr2437insTer)
|
rs1591159614
|
|
|
NM_000051.4(ATM):c.7318A>T (p.Lys2440Ter)
|
|
|
|
NM_000051.4(ATM):c.7326G>T (p.Gln2442His)
|
rs1555122970
|
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
|
NM_000051.4(ATM):c.7329A>G (p.Arg2443=)
|
|
|
|
NM_000051.4(ATM):c.7331_7332del (p.Glu2444fs)
|
|
|
|
NM_000051.4(ATM):c.7334T>A (p.Leu2445Gln)
|
rs1555122992
|
|
|
NM_000051.4(ATM):c.7337A>G (p.Glu2446Gly)
|
rs1555122998
|
|
|
NM_000051.4(ATM):c.7339T>C (p.Leu2447=)
|
rs1591159997
|
|
|
NM_000051.4(ATM):c.7342G>A (p.Asp2448Asn)
|
rs1591160022
|
|
|
NM_000051.4(ATM):c.7347A>G (p.Glu2449=)
|
rs2136454257
|
|
|
NM_000051.4(ATM):c.7349T>A (p.Leu2450Ter)
|
|
|
|
NM_000051.4(ATM):c.7349T>G (p.Leu2450Ter)
|
|
|
|
NM_000051.4(ATM):c.7353C>A (p.Ala2451=)
|
|
|
|
NM_000051.4(ATM):c.7354C>T (p.Leu2452=)
|
|
|
|
NM_000051.4(ATM):c.7356G>A (p.Leu2452=)
|
|
|
|
NM_000051.4(ATM):c.7356G>C (p.Leu2452=)
|
|
|
|
NM_000051.4(ATM):c.7359T>A (p.Arg2453=)
|
|
|
|
NM_000051.4(ATM):c.735C>G (p.Val245=)
|
rs3218674
|
|
|
NM_000051.4(ATM):c.7365G>A (p.Leu2455=)
|
rs756506590
|
|
|
NM_000051.4(ATM):c.7368A>G (p.Lys2456=)
|
rs2136455679
|
|
|
NM_000051.4(ATM):c.7368del (p.Glu2457fs)
|
|
|
|
NM_000051.4(ATM):c.7370_7371del (p.Glu2457fs)
|
rs1591160284
|
|
|
NM_000051.4(ATM):c.7372del (p.Asp2458fs)
|
|
|
|
NM_000051.4(ATM):c.7373A>T (p.Asp2458Val)
|
rs879254201
|
|
|
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly)
|
rs730881383
|
|
|
NM_000051.4(ATM):c.737A>G (p.Asn246Ser)
|
rs781023264
|
|
|
NM_000051.4(ATM):c.7380A>G (p.Lys2460=)
|
|
|
|
NM_000051.4(ATM):c.738C>T (p.Asn246=)
|
|
|
|
NM_000051.4(ATM):c.7391_7412del (p.Cys2464fs)
|
rs1064794690
|
|
|
NM_000051.4(ATM):c.7395A>G (p.Lys2465=)
|
rs2086122414
|
|
|
NM_000051.4(ATM):c.7398A>G (p.Ala2466=)
|
rs2136457427
|
|
|
NM_000051.4(ATM):c.7401T>G (p.Val2467=)
|
rs1565529761
|
|
|
NM_000051.4(ATM):c.7403A>C (p.Glu2468Ala)
|
|
|
|
NM_000051.4(ATM):c.7406dup (p.Asn2469fs)
|
rs2086123262
|
|
|
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)
|
rs876659365
|
|
|
NM_000051.4(ATM):c.7410T>C (p.Tyr2470=)
|
rs1555123144
|
|
|
NM_000051.4(ATM):c.7410T>G (p.Tyr2470Ter)
|
|
|
|
NM_000051.4(ATM):c.7413C>T (p.Ile2471=)
|
|
|
|
NM_000051.4(ATM):c.7417del (p.Cys2473fs)
|
rs2086125359
|
|
|
NM_000051.4(ATM):c.741T>C (p.Phe247=)
|
rs876659081
|
|
|
NM_000051.4(ATM):c.741dup (p.Arg248fs)
|
rs1131691161
|
|
|
NM_000051.4(ATM):c.7420T>C (p.Leu2474=)
|
rs1555123149
|
|
|
NM_000051.4(ATM):c.7422A>G (p.Leu2474=)
|
rs1591160792
|
|
|
NM_000051.4(ATM):c.7424T>G (p.Leu2475Ter)
|
rs1224883896
|
|
|
NM_000051.4(ATM):c.7425A>G (p.Leu2475=)
|
rs1555123162
|
|
|
NM_000051.4(ATM):c.7437A>G (p.Glu2479=)
|
rs1591160964
|
|
|
NM_000051.4(ATM):c.7437del (p.Glu2479fs)
|
|
|
|
NM_000051.4(ATM):c.743G>A (p.Arg248Gln)
|
rs769166447
|
|
|
NM_000051.4(ATM):c.743G>T (p.Arg248Leu)
|
rs769166447
|
|
|
NM_000051.4(ATM):c.7443T>C (p.Asp2481=)
|
rs1555123181
|
|
|
NM_000051.4(ATM):c.7445T>C (p.Met2482Thr)
|
rs1555123191
|
|
|
NM_000051.4(ATM):c.744A>C (p.Arg248=)
|
rs1591503905
|
|
|
NM_000051.4(ATM):c.7450dup (p.Val2484fs)
|
|
|
|
NM_000051.4(ATM):c.7452A>G (p.Val2484=)
|
rs2136460667
|
|
|
NM_000051.4(ATM):c.7452_7453del (p.Phe2485fs)
|
|
|
|
NM_000051.4(ATM):c.7457_7467del (p.Arg2486fs)
|
|
|
|
NM_000051.4(ATM):c.7464T>C (p.Cys2488=)
|
rs1555123227
|
|
|
NM_000051.4(ATM):c.7465_7466del (p.Ser2489fs)
|
rs786203734
|
|
|
NM_000051.4(ATM):c.7468del (p.Leu2490fs)
|
|
|
|
NM_000051.4(ATM):c.7470C>G (p.Leu2490=)
|
rs1057521604
|
|
|
NM_000051.4(ATM):c.7470C>T (p.Leu2490=)
|
|
|
|
NM_000051.4(ATM):c.7473G>A (p.Trp2491Ter)
|
|
|
|
NM_000051.4(ATM):c.7478A>G (p.Glu2493Gly)
|
|
|
|
NM_000051.4(ATM):c.748C>A (p.Arg250=)
|
rs772821016
|
|
|
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)
|
rs772821016
|
|
|
NM_000051.4(ATM):c.7495G>T (p.Glu2499Ter)
|
rs2136463344
|
|
|
NM_000051.4(ATM):c.7500C>T (p.Val2500=)
|
rs1060504286
|
|
|
NM_000051.4(ATM):c.7503T>A (p.Asn2501Lys)
|
rs1591161664
|
|
|
NM_000051.4(ATM):c.7507A>T (p.Met2503Leu)
|
rs780931855
|
|
|
NM_000051.4(ATM):c.750A>G (p.Arg250=)
|
rs1555067112
|
|
|
NM_000051.4(ATM):c.7515+1G>A
|
rs1591161831
|
|
|
NM_000051.4(ATM):c.7515+1G>C
|
|
|
|
NM_000051.4(ATM):c.7515+1G>T
|
rs1591161831
|
|
|
NM_000051.4(ATM):c.7515+2C>T
|
|
|
|
NM_000051.4(ATM):c.7515+7G>A
|
rs2136465577
|
|
|
NM_000051.4(ATM):c.7515+9T>A
|
rs1465593444
|
|
|
NM_000051.4(ATM):c.7516-11T>C
|
|
|
|
NM_000051.4(ATM):c.7516-12T>C
|
|
|
|
NM_000051.4(ATM):c.7516-14T>C
|
rs1254619756
|
|
|
NM_000051.4(ATM):c.7516-16T>C
|
rs2086218796
|
|
|
NM_000051.4(ATM):c.7516-18T>C
|
|
|
|
NM_000051.4(ATM):c.7516-1G>A
|
|
|
|
NM_000051.4(ATM):c.7516-1G>T
|
|
|
|
NM_000051.4(ATM):c.7516-2A>G
|
|
|
|
NM_000051.4(ATM):c.7516-6T>C
|
rs1057521003
|
|
|
NM_000051.4(ATM):c.7516-7del
|
rs1591166840
|
|
|
NM_000051.4(ATM):c.7516-9dup
|
rs573494809
|
|
|
NM_000051.4(ATM):c.7517_7520del
|
rs587781905
|
|
|
NM_000051.4(ATM):c.7518A>G (p.Arg2506=)
|
rs2086221982
|
|
|
NM_000051.4(ATM):c.7519G>C (p.Asp2507His)
|
rs2136491059
|
|
|
NM_000051.4(ATM):c.7519_7520del
|
rs587781905
|
|
|
NM_000051.4(ATM):c.7533T>C (p.Ile2511=)
|
rs786201279
|
|
|
NM_000051.4(ATM):c.7536A>G (p.Pro2512=)
|
rs786202802
|
|
|
NM_000051.4(ATM):c.7537A>G (p.Thr2513Ala)
|
rs1480066803
|
|
|
NM_000051.4(ATM):c.7539A>C (p.Thr2513=)
|
|
|
|
NM_000051.4(ATM):c.753G>T (p.Val251=)
|
|
|
|
NM_000051.4(ATM):c.7541A>T (p.Tyr2514Phe)
|
rs1555123994
|
|
|
NM_000051.4(ATM):c.7542T>A (p.Tyr2514Ter)
|
rs777925486
|
|
|
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer)
|
rs1555123981
|
|
|
NM_000051.4(ATM):c.7550_7551del (p.Leu2517fs)
|
|
|
|
NM_000051.4(ATM):c.7563C>G (p.Tyr2521Ter)
|
rs772228129
|
|
|
NM_000051.4(ATM):c.7567T>C (p.Leu2523=)
|
rs1565532289
|
|
|
NM_000051.4(ATM):c.7567T>G (p.Leu2523Val)
|
|
|
|
NM_000051.4(ATM):c.756T>C (p.Cys252=)
|
rs2079762952
|
|
|
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs876659003
|
|
|
NM_000051.4(ATM):c.7575dup (p.Arg2526Ter)
|
|
|
|
NM_000051.4(ATM):c.7578A>G (p.Arg2526=)
|
|
|
|
NM_000051.4(ATM):c.7584G>A (p.Gly2528=)
|
|
|
|
NM_000051.4(ATM):c.7584del (p.Thr2529fs)
|
|
|
|
NM_000051.4(ATM):c.7587C>T (p.Thr2529=)
|
rs890244103
|
|
|
NM_000051.4(ATM):c.7588A>T (p.Lys2530Ter)
|
|
|
|
NM_000051.4(ATM):c.7599A>G (p.Gly2533=)
|
rs2136497122
|
|
|
NM_000051.4(ATM):c.75A>G (p.Lys25=)
|
rs1591446716
|
|
|
NM_000051.4(ATM):c.75_78del
|
rs1565344409
|
|
|
NM_000051.4(ATM):c.7603C>T (p.Leu2535=)
|
rs1555124111
|
|
|
NM_000051.4(ATM):c.7605A>G (p.Leu2535=)
|
rs1591167954
|
|
|
NM_000051.4(ATM):c.7608del (p.His2538fs)
|
rs1565532554
|
|
|
NM_000051.4(ATM):c.7617A>G (p.Glu2539=)
|
|
|
|
NM_000051.4(ATM):c.7623C>T (p.Leu2541=)
|
rs2086235791
|
|
|
NM_000051.4(ATM):c.7626del (p.Asn2542fs)
|
|
|
|
NM_000051.4(ATM):c.7629+1G>A
|
rs1565532703
|
|
|
NM_000051.4(ATM):c.7629+1del
|
|
|
|
NM_000051.4(ATM):c.7629+2T>G
|
|
|
|
NM_000051.4(ATM):c.7629+9A>G
|
|
|
|
NM_000051.4(ATM):c.7629_7629+1delinsA
|
|
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
|
NM_000051.4(ATM):c.7630-13T>C
|
|
|
|
NM_000051.4(ATM):c.7630-16A>G
|
rs2136513501
|
|
|
NM_000051.4(ATM):c.7630-16_7630-14del
|
|
|
|
NM_000051.4(ATM):c.7630-18A>T
|
|
|
|
NM_000051.4(ATM):c.7630-1G>A
|
rs2086285148
|
|
|
NM_000051.4(ATM):c.7630-1G>C
|
|
|
|
NM_000051.4(ATM):c.7630-2A>G
|
rs587779866
|
|
|
NM_000051.4(ATM):c.7630-7C>T
|
rs730881276
|
|
|
NM_000051.4(ATM):c.7630C>G (p.Leu2544Val)
|
rs1555124455
|
|
|
NM_000051.4(ATM):c.7631del (p.Leu2544fs)
|
rs1591171040
|
|
|
NM_000051.4(ATM):c.7635C>T (p.Ile2545=)
|
|
|
|
NM_000051.4(ATM):c.7636del (p.Ser2546fs)
|
|
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
|
NM_000051.4(ATM):c.7647A>T (p.Ser2549=)
|
rs1591171175
|
|
|
NM_000051.4(ATM):c.7652A>G (p.Asp2551Gly)
|
rs1565533613
|
|
|
NM_000051.4(ATM):c.7654C>A (p.His2552Asn)
|
rs786202174
|
|
|
NM_000051.4(ATM):c.7664del (p.His2555fs)
|
|
|
|
NM_000051.4(ATM):c.7665delinsGTGA (p.His2555delinsGlnTer)
|
rs1555124503
|
|
|
NM_000051.4(ATM):c.7669_7670del (p.Leu2557fs)
|
rs1565533778
|
|
|
NM_000051.4(ATM):c.7670T>A (p.Leu2557Ter)
|
rs2086293039
|
|
|
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)
|
rs1555124506
|
|
|
NM_000051.4(ATM):c.7681C>T (p.Leu2561=)
|
rs1060504314
|
|
|
NM_000051.4(ATM):c.7683G>A (p.Leu2561=)
|
|
|
|
NM_000051.4(ATM):c.7683G>T (p.Leu2561=)
|
|
|
|
NM_000051.4(ATM):c.7684_7685del (p.Ala2562fs)
|
|
|
|
NM_000051.4(ATM):c.7686C>T (p.Ala2562=)
|
rs1555124531
|
|
|
NM_000051.4(ATM):c.7694dup (p.Asn2565fs)
|
rs1591171790
|
|
|
NM_000051.4(ATM):c.7696G>A (p.Ala2566Thr)
|
rs1060501604
|
|
|
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)
|
rs1060501547
|
|
|
NM_000051.4(ATM):c.769G>A (p.Glu257Lys)
|
|
|
|
NM_000051.4(ATM):c.7701C>A (p.Asn2567Lys)
|
|
|
|
NM_000051.4(ATM):c.7701C>T (p.Asn2567=)
|
rs786201637
|
|
|
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)
|
rs759965045
|
|
|
NM_000051.4(ATM):c.7705del (p.Asp2569fs)
|
rs2136522117
|
|
|
NM_000051.4(ATM):c.7708G>T (p.Glu2570Ter)
|
rs1555124587
|
|
|
NM_000051.4(ATM):c.7710A>G (p.Glu2570=)
|
rs760215505
|
|
|
NM_000051.4(ATM):c.7714C>T (p.Leu2572=)
|
rs1472587727
|
|
|
NM_000051.4(ATM):c.7719T>C (p.Thr2573=)
|
|
|
|
NM_000051.4(ATM):c.771A>G (p.Glu257=)
|
rs786201068
|
|
|
NM_000051.4(ATM):c.7720_7729del (p.Thr2573_Lys2574insTer)
|
|
|
|
NM_000051.4(ATM):c.7731A>G (p.Val2577=)
|
rs2136524528
|
|
|
NM_000051.4(ATM):c.7734C>T (p.Ala2578=)
|
rs753442840
|
|
|
NM_000051.4(ATM):c.7735A>G (p.Arg2579Gly)
|
|
|
|
NM_000051.4(ATM):c.7743C>G (p.Ser2581Arg)
|
|
|
|
NM_000051.4(ATM):c.7744A>C (p.Arg2582=)
|
|
|
|
NM_000051.4(ATM):c.7746A>G (p.Arg2582=)
|
|
|
|
NM_000051.4(ATM):c.7751_7754del (p.Thr2584fs)
|
rs2086308364
|
|
|
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter)
|
rs2086308918
|
|
|
NM_000051.4(ATM):c.7758T>C (p.Asn2586=)
|
rs2136526693
|
|
|
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter)
|
rs1591172641
|
|
|
NM_000051.4(ATM):c.7767A>G (p.Lys2589=)
|
rs2086311025
|
|
|
NM_000051.4(ATM):c.7767del (p.Lys2589fs)
|
rs1057517025
|
|
|
NM_000051.4(ATM):c.7770A>G (p.Gln2590=)
|
rs864622437
|
|
|
NM_000051.4(ATM):c.7773C>T (p.Ser2591=)
|
rs1045232065
|
|
|
NM_000051.4(ATM):c.777T>A (p.Leu259=)
|
|
|
|
NM_000051.4(ATM):c.777T>G (p.Leu259=)
|
|
|
|
NM_000051.4(ATM):c.777del (p.Thr261fs)
|
|
|
|
NM_000051.4(ATM):c.7783_7788+28del
|
|
|
|
NM_000051.4(ATM):c.7785T>C (p.Asp2595=)
|
rs34838175
|
|
|
NM_000051.4(ATM):c.7788+10T>C
|
rs1555124759
|
|
|
NM_000051.4(ATM):c.7788+10T>G
|
rs1555124759
|
|
|
NM_000051.4(ATM):c.7788+1G>C
|
rs1565534524
|
|
|
NM_000051.4(ATM):c.7788+9A>G
|
rs1182105888
|
|
|
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)
|
rs587780639
|
|
|
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp)
|
rs587780639
|
|
|
NM_000051.4(ATM):c.7788G>T (p.Glu2596Asp)
|
rs587780639
|
|
|
NM_000051.4(ATM):c.7789-11T>C
|
|
|
|
NM_000051.4(ATM):c.7789-14T>C
|
|
|
|
NM_000051.4(ATM):c.7789-16T>C
|
|
|
|
NM_000051.4(ATM):c.7789-16dup
|
rs776103192
|
|
|
NM_000051.4(ATM):c.7789-17T>C
|
|
|
|
NM_000051.4(ATM):c.7789-19T>C
|
rs560800769
|
|
|
NM_000051.4(ATM):c.7789-29_7789-16del
|
|
|
|
NM_000051.4(ATM):c.7789-3T>G
|
rs864622185
|
|
|
NM_000051.4(ATM):c.7789-5A>C
|
|
|
|
NM_000051.4(ATM):c.7789-7T>C
|
|
|
|
NM_000051.4(ATM):c.7789-9T>C
|
|
|
|
NM_000051.4(ATM):c.7789-9del
|
|
|
|
NM_000051.4(ATM):c.7789-9dup
|
rs1555125203
|
|
|
NM_000051.4(ATM):c.778C>A (p.Pro260Thr)
|
rs863224581
|
|
|
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)
|
rs138941496
|
|
|
NM_000051.4(ATM):c.7793_7798delinsCC (p.Arg2598fs)
|
|
|
|
NM_000051.4(ATM):c.7794A>C (p.Arg2598=)
|
rs1555125220
|
|
|
NM_000051.4(ATM):c.7799_7800del (p.Glu2600fs)
|
|
|
|
NM_000051.4(ATM):c.7803T>C (p.Ala2601=)
|
|
|
|
NM_000051.4(ATM):c.7806A>C (p.Ala2602=)
|
|
|
|
NM_000051.4(ATM):c.780C>A (p.Pro260=)
|
|
|
|
NM_000051.4(ATM):c.780C>G (p.Pro260=)
|
|
|
|
NM_000051.4(ATM):c.7811_7815dup (p.Ile2606delinsGluTer)
|
|
|
|
NM_000051.4(ATM):c.7819T>C (p.Cys2607Arg)
|
rs1459650575
|
|
|
NM_000051.4(ATM):c.7827C>T (p.Ile2609=)
|
rs768423205
|
|
|
NM_000051.4(ATM):c.7829_7830del (p.Arg2610fs)
|
rs2086410142
|
|
|
NM_000051.4(ATM):c.7831_7835del (p.Ser2611fs)
|
rs1591178362
|
|
|
NM_000051.4(ATM):c.7834A>C (p.Arg2612=)
|
rs1305691166
|
|
|
NM_000051.4(ATM):c.7836G>A (p.Arg2612=)
|
rs761324887
|
|
|
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs)
|
rs730881293
|
|
|
NM_000051.4(ATM):c.7841C>A (p.Pro2614His)
|
rs769207177
|
|
|
NM_000051.4(ATM):c.7842T>G (p.Pro2614=)
|
rs876660827
|
|
|
NM_000051.4(ATM):c.7845_7846del (p.Gln2615fs)
|
|
|
|
NM_000051.4(ATM):c.7851C>T (p.Val2617=)
|
|
|
|
NM_000051.4(ATM):c.7852A>C (p.Arg2618=)
|
rs1057521185
|
|
|
NM_000051.4(ATM):c.7858G>C (p.Val2620Leu)
|
rs1427723678
|
|
|
NM_000051.4(ATM):c.7858G>T (p.Val2620Phe)
|
rs1427723678
|
|
|
NM_000051.4(ATM):c.7858del (p.Val2620fs)
|
rs1555125349
|
|
|
NM_000051.4(ATM):c.785T>A (p.Leu262Ter)
|
rs864622163
|
|
|
NM_000051.4(ATM):c.7867C>T (p.Leu2623Phe)
|
rs774118570
|
|
|
NM_000051.4(ATM):c.786G>A (p.Leu262=)
|
|
|
|
NM_000051.4(ATM):c.7870T>G (p.Cys2624Gly)
|
rs1591178767
|
|
|
NM_000051.4(ATM):c.7872T>A (p.Cys2624Ter)
|
|
|
|
NM_000051.4(ATM):c.7874A>C (p.Asp2625Ala)
|
rs876660121
|
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
|
NM_000051.4(ATM):c.7879T>C (p.Tyr2627His)
|
rs2086422796
|
|
|
NM_000051.4(ATM):c.7880del (p.Tyr2627fs)
|
rs1057516599
|
|
|
NM_000051.4(ATM):c.7881T>C (p.Tyr2627=)
|
rs2086423868
|
|
|
NM_000051.4(ATM):c.7884T>C (p.Ile2628=)
|
|
|
|
NM_000051.4(ATM):c.7885A>G (p.Ile2629Val)
|
rs2136569929
|
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
|
NM_000051.4(ATM):c.7887A>G (p.Ile2629Met)
|
rs752886000
|
|
|
NM_000051.4(ATM):c.7889T>A (p.Leu2630Ter)
|
rs1591178998
|
|
|
NM_000051.4(ATM):c.7889T>G (p.Leu2630Ter)
|
|
|
|
NM_000051.4(ATM):c.7896C>T (p.Asn2632=)
|
rs1591179036
|
|
|
NM_000051.4(ATM):c.7899A>G (p.Leu2633=)
|
rs2086426925
|
|
|
NM_000051.4(ATM):c.7903dup (p.Ala2635fs)
|
|
|
|
NM_000051.4(ATM):c.7904C>G (p.Ala2635Gly)
|
rs754002355
|
|
|
NM_000051.4(ATM):c.7905C>G (p.Ala2635=)
|
|
|
|
NM_000051.4(ATM):c.790del (p.Tyr264fs)
|
rs587781978
|
|
|
NM_000051.4(ATM):c.7914G>A (p.Trp2638Ter)
|
|
|
|
NM_000051.4(ATM):c.7915A>T (p.Lys2639Ter)
|
rs2136572656
|
|
|
NM_000051.4(ATM):c.7916_7917insCT (p.Lys2639fs)
|
|
|
|
NM_000051.4(ATM):c.7917G>A (p.Lys2639=)
|
rs1555125501
|
|
|
NM_000051.4(ATM):c.7919C>G (p.Thr2640Ser)
|
rs4988125
|
|
|
NM_000051.4(ATM):c.7921C>A (p.Gln2641Lys)
|
|
|
|
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter)
|
rs769523686
|
|
|
NM_000051.4(ATM):c.7925_7926del (p.Arg2642fs)
|
|
|
|
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)
|
rs863224440
|
|
|
NM_000051.4(ATM):c.7927+5G>A
|
rs1299306446
|
|
|
NM_000051.4(ATM):c.7927+6T>G
|
rs1591179460
|
|
|
NM_000051.4(ATM):c.7927+8T>C
|
|
|
|
NM_000051.4(ATM):c.7927+8T>G
|
|
|
|
NM_000051.4(ATM):c.7928-18C>T
|
|
|
|
NM_000051.4(ATM):c.7928-20C>T
|
|
|
|
NM_000051.4(ATM):c.7928-4A>G
|
rs876658629
|
|
|
NM_000051.4(ATM):c.7928-7A>T
|
|
|
|
NM_000051.4(ATM):c.7929A>G (p.Lys2643=)
|
|
|
|
NM_000051.4(ATM):c.7929delA (p.Gly2644fs)
|
rs1064795550
|
|
|
NM_000051.4(ATM):c.7930G>A (p.Gly2644Ser)
|
rs587781897
|
|
|
NM_000051.4(ATM):c.7930G>C (p.Gly2644Arg)
|
rs587781897
|
|
|
NM_000051.4(ATM):c.7932C>T (p.Gly2644=)
|
rs2136610997
|
|
|
NM_000051.4(ATM):c.7943del (p.Pro2648fs)
|
|
|
|
NM_000051.4(ATM):c.7947A>G (p.Ala2649=)
|
rs1060504301
|
|
|
NM_000051.4(ATM):c.7948G>A (p.Asp2650Asn)
|
rs786202219
|
|
|
NM_000051.4(ATM):c.7950C>T (p.Asp2650=)
|
rs1060504298
|
|
|
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)
|
rs587781994
|
|
|
NM_000051.4(ATM):c.795T>C (p.Ile265=)
|
rs1290222131
|
|
|
NM_000051.4(ATM):c.7966C>G (p.Leu2656Val)
|
rs1591184384
|
|
|
NM_000051.4(ATM):c.7966C>T (p.Leu2656Phe)
|
rs1591184384
|
|
|
NM_000051.4(ATM):c.797G>A (p.Trp266Ter)
|
|
|
|
NM_000051.4(ATM):c.7980A>T (p.Glu2660Asp)
|
rs1555126247
|
|
|
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del)
|
rs876660743
|
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
|
NM_000051.4(ATM):c.7992C>T (p.Val2664=)
|
rs1591184637
|
|
|
NM_000051.4(ATM):c.7998dup (p.Met2667fs)
|
rs587779869
|
|
|
NM_000051.4(ATM):c.7999A>T (p.Met2667Leu)
|
rs34099398
|
|
|
NM_000051.4(ATM):c.799A>G (p.Thr267Ala)
|
rs876660962
|
|
|
NM_000051.4(ATM):c.8010+1G>C
|
|
|
|
NM_000051.4(ATM):c.8010+1del
|
rs876659350
|
|
|
NM_000051.4(ATM):c.8010+2T>C
|
rs1591184927
|
|
|
NM_000051.4(ATM):c.8010+2T>G
|
|
|
|
NM_000051.4(ATM):c.8010+5T>G
|
rs56256497
|
|
|
NM_000051.4(ATM):c.8010+7T>G
|
|
|
|
NM_000051.4(ATM):c.8011-11A>G
|
|
|
|
NM_000051.4(ATM):c.8011-12T>C
|
rs2136651285
|
|
|
NM_000051.4(ATM):c.8011-13A>C
|
|
|
|
NM_000051.4(ATM):c.8011-13A>G
|
|
|
|
NM_000051.4(ATM):c.8011-13A>T
|
|
|
|
NM_000051.4(ATM):c.8011-14T>C
|
|
|
|
NM_000051.4(ATM):c.8011-14_8011-11delinsATT
|
|
|
|
NM_000051.4(ATM):c.8011-16T>C
|
rs776948701
|
|
|
NM_000051.4(ATM):c.8011-17G>C
|
|
|
|
NM_000051.4(ATM):c.8011-20C>T
|
|
|
|
NM_000051.4(ATM):c.8011-5A>C
|
|
|
|
NM_000051.4(ATM):c.8011-6T>C
|
rs762092284
|
|
|
NM_000051.4(ATM):c.8011-6del
|
|
|
|
NM_000051.4(ATM):c.8011-7T>C
|
rs2136651700
|
|
|
NM_000051.4(ATM):c.8011-8T>C
|
|
|
|
NM_000051.4(ATM):c.8015A>C (p.Asp2672Ala)
|
rs763161651
|
|
|
NM_000051.4(ATM):c.8016C>T (p.Asp2672=)
|
rs1591191019
|
|
|
NM_000051.4(ATM):c.8017C>T (p.His2673Tyr)
|
rs1555127035
|
|
|
NM_000051.4(ATM):c.8028A>G (p.Glu2676=)
|
rs1389648050
|
|
|
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)
|
rs557012154
|
|
|
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys)
|
rs28942103
|
|
|
NM_000051.4(ATM):c.8034A>C (p.Gly2678=)
|
|
|
|
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs)
|
rs587780640
|
|
|
NM_000051.4(ATM):c.8043G>A (p.Val2681=)
|
|
|
|
NM_000051.4(ATM):c.8043dup (p.Thr2682fs)
|
rs2086672570
|
|
|
NM_000051.4(ATM):c.8044A>G (p.Thr2682Ala)
|
rs730881320
|
|
|
NM_000051.4(ATM):c.8046T>C (p.Thr2682=)
|
rs876660435
|
|
|
NM_000051.4(ATM):c.8046T>G (p.Thr2682=)
|
|
|
|
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter)
|
rs1555127102
|
|
|
NM_000051.4(ATM):c.8050_8051del (p.Gln2684fs)
|
rs2086675006
|
|
|
NM_000051.4(ATM):c.8051del (p.Gln2684fs)
|
|
|
|
NM_000051.4(ATM):c.8051dup (p.Ser2685fs)
|
rs1591191449
|
|
|
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs)
|
rs1591191412
|
|
|
NM_000051.4(ATM):c.8054C>A (p.Ser2685Ter)
|
rs2086676230
|
|
|
NM_000051.4(ATM):c.8054_8093dup (p.Leu2698delinsPheIleTer)
|
|
|
|
NM_000051.4(ATM):c.805C>T (p.His269Tyr)
|
rs1591504278
|
|
|
NM_000051.4(ATM):c.805dup (p.His269fs)
|
|
|
|
NM_000051.4(ATM):c.8068T>G (p.Phe2690Val)
|
rs2086677473
|
|
|
NM_000051.4(ATM):c.8073C>G (p.Arg2691=)
|
rs1215882325
|
|
|
NM_000051.4(ATM):c.8073C>T (p.Arg2691=)
|
|
|
|
NM_000051.4(ATM):c.8076A>G (p.Leu2692=)
|
|
|
|
NM_000051.4(ATM):c.8076A>T (p.Leu2692Phe)
|
|
|
|
NM_000051.4(ATM):c.8076dup (p.Ala2693fs)
|
rs1555127151
|
|
|
NM_000051.4(ATM):c.8079A>G (p.Ala2693=)
|
|
|
|
NM_000051.4(ATM):c.807dup (p.Arg270Ter)
|
|
|
|
NM_000051.4(ATM):c.8082A>C (p.Gly2694=)
|
rs540266635
|
|
|
NM_000051.4(ATM):c.8083G>T (p.Gly2695Cys)
|
rs1555127166
|
|
|
NM_000051.4(ATM):c.8091T>C (p.Asn2697=)
|
rs756887364
|
|
|
NM_000051.4(ATM):c.8094A>G (p.Leu2698=)
|
rs786203569
|
|
|
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)
|
rs758588019
|
|
|
NM_000051.4(ATM):c.809G>A (p.Arg270Lys)
|
rs587781857
|
|
|
NM_000051.4(ATM):c.8101dup (p.Ile2701fs)
|
rs2086682689
|
|
|
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs)
|
rs1064793406
|
|
|
NM_000051.4(ATM):c.8106A>C (p.Ile2702=)
|
|
|
|
NM_000051.4(ATM):c.8106A>G (p.Ile2702Met)
|
rs2086684779
|
|
|
NM_000051.4(ATM):c.8113G>T (p.Val2705Leu)
|
rs587779870
|
|
|
NM_000051.4(ATM):c.8115A>C (p.Val2705=)
|
rs1188411746
|
|
|
NM_000051.4(ATM):c.8118T>C (p.Gly2706=)
|
rs1057520990
|
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
|
NM_000051.4(ATM):c.8124T>C (p.Asp2708=)
|
rs587781990
|
|
|
NM_000051.4(ATM):c.8127del (p.Lys2710fs)
|
rs1591192266
|
|
|
NM_000051.4(ATM):c.812T>G (p.Leu271Arg)
|
rs1314281091
|
|
|
NM_000051.4(ATM):c.8130G>A (p.Lys2710=)
|
|
|
|
NM_000051.4(ATM):c.8133G>A (p.Glu2711=)
|
rs1591192322
|
|
|
NM_000051.4(ATM):c.8135_8139del (p.Arg2712fs)
|
rs2136663735
|
|
|
NM_000051.4(ATM):c.8136G>A (p.Arg2712=)
|
rs2086690149
|
|
|
NM_000051.4(ATM):c.8136_8142del (p.Arg2712fs)
|
|
|
|
NM_000051.4(ATM):c.8138G>A (p.Arg2713Lys)
|
rs876659351
|
|
|
NM_000051.4(ATM):c.8138G>C (p.Arg2713Thr)
|
rs876659351
|
|
|
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter)
|
rs1060501695
|
|
|
NM_000051.4(ATM):c.8146G>A (p.Val2716Ile)
|
rs730881385
|
|
|
NM_000051.4(ATM):c.8148_8151+2del
|
rs1565541335
|
|
|
NM_000051.4(ATM):c.8149A>T (p.Lys2717Ter)
|
rs774334667
|
|
|
NM_000051.4(ATM):c.8150A>G (p.Lys2717Arg)
|
rs1555127353
|
|
|
NM_000051.4(ATM):c.8151+10C>T
|
|
|
|
NM_000051.4(ATM):c.8151+1G>A
|
rs1591192583
|
|
|
NM_000051.4(ATM):c.8151+1G>T
|
|
|
|
NM_000051.4(ATM):c.8151+3G>A
|
rs760065522
|
|
|
NM_000051.4(ATM):c.8151+5G>A
|
rs1555127370
|
|
|
NM_000051.4(ATM):c.8151+6C>T
|
rs910779363
|
|
|
NM_000051.4(ATM):c.8152-10T>C
|
|
|
|
NM_000051.4(ATM):c.8152-10del
|
|
|
|
NM_000051.4(ATM):c.8152-18T>C
|
|
|
|
NM_000051.4(ATM):c.8152-19A>G
|
|
|
|
NM_000051.4(ATM):c.8152-1G>A
|
rs1398616877
|
|
|
NM_000051.4(ATM):c.8152-1G>C
|
rs1398616877
|
|
|
NM_000051.4(ATM):c.8152-1G>T
|
rs1398616877
|
|
|
NM_000051.4(ATM):c.8152-20C>T
|
rs1555128158
|
|
|
NM_000051.4(ATM):c.8152-2A>G
|
rs777602049
|
|
|
NM_000051.4(ATM):c.8152-4G>A
|
|
|
|
NM_000051.4(ATM):c.8152-7T>C
|
rs2086778829
|
|
|
NM_000051.4(ATM):c.8152-9A>C
|
|
|
|
NM_000051.4(ATM):c.8152-9A>T
|
|
|
|
NM_000051.4(ATM):c.8154C>G (p.Gly2718=)
|
rs371021126
|
|
|
NM_000051.4(ATM):c.8155del (p.Arg2719fs)
|
|
|
|
NM_000051.4(ATM):c.815A>G (p.Asn272Ser)
|
rs1555067189
|
|
|
NM_000051.4(ATM):c.8161_8163delinsAG (p.Asp2721fs)
|
|
|
|
NM_000051.4(ATM):c.8162A>T (p.Asp2721Val)
|
rs1555128280
|
|
|
NM_000051.4(ATM):c.8180_8184dup (p.Gln2729fs)
|
|
|
|
NM_000051.4(ATM):c.8181C>T (p.Val2727=)
|
rs2136693653
|
|
|
NM_000051.4(ATM):c.8182dup (p.Met2728fs)
|
rs2136693800
|
|
|
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)
|
rs587781967
|
|
|
NM_000051.4(ATM):c.8187A>G (p.Gln2729=)
|
rs587781946
|
|
|
NM_000051.4(ATM):c.8188C>T (p.Gln2730Ter)
|
rs587782317
|
|
|
NM_000051.4(ATM):c.8191G>A (p.Val2731Ile)
|
rs1215175886
|
|
|
NM_000051.4(ATM):c.8193C>A (p.Val2731=)
|
rs1060504307
|
|
|
NM_000051.4(ATM):c.8196C>T (p.Phe2732=)
|
|
|
|
NM_000051.4(ATM):c.8201_8211delinsGACCTG (p.Met2734fs)
|
|
|
|
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs)
|
rs1555128432
|
|
|
NM_000051.4(ATM):c.8205T>C (p.Cys2735=)
|
rs2136696071
|
|
|
NM_000051.4(ATM):c.8211A>G (p.Thr2737=)
|
rs876660946
|
|
|
NM_000051.4(ATM):c.8211A>T (p.Thr2737=)
|
rs876660946
|
|
|
NM_000051.4(ATM):c.8215C>T (p.Leu2739=)
|
rs1060504311
|
|
|
NM_000051.4(ATM):c.8217G>T (p.Leu2739=)
|
rs759069006
|
|
|
NM_000051.4(ATM):c.8217del (p.Gln2740fs)
|
|
|
|
NM_000051.4(ATM):c.821C>G (p.Ser274Cys)
|
rs1591504377
|
|
|
NM_000051.4(ATM):c.821C>T (p.Ser274Phe)
|
rs1591504377
|
|
|
NM_000051.4(ATM):c.8220G>A (p.Gln2740=)
|
rs1060504313
|
|
|
NM_000051.4(ATM):c.8223A>G (p.Arg2741=)
|
|
|
|
NM_000051.4(ATM):c.8224_8225del (p.Asn2742fs)
|
rs1162534390
|
|
|
NM_000051.4(ATM):c.8225del (p.Asn2742fs)
|
|
|
|
NM_000051.4(ATM):c.822T>G (p.Ser274=)
|
|
|
|
NM_000051.4(ATM):c.8230_8231delinsT (p.Thr2743_Glu2744insTer)
|
|
|
|
NM_000051.4(ATM):c.8233del (p.Thr2745fs)
|
|
|
|
NM_000051.4(ATM):c.8234C>G (p.Thr2745Ser)
|
|
|
|
NM_000051.4(ATM):c.8235T>C (p.Thr2745=)
|
rs2136698319
|
|
|
NM_000051.4(ATM):c.8240dup (p.Arg2748fs)
|
rs1591199097
|
|
|
NM_000051.4(ATM):c.8241G>A (p.Lys2747=)
|
|
|
|
NM_000051.4(ATM):c.8244G>A (p.Arg2748=)
|
rs1591199166
|
|
|
NM_000051.4(ATM):c.8247A>G (p.Lys2749=)
|
|
|
|
NM_000051.4(ATM):c.8248_8268del (p.Leu2750_Lys2756del)
|
rs771146489
|
|
|
NM_000051.4(ATM):c.8249T>G (p.Leu2750Ter)
|
|
|
|
NM_000051.4(ATM):c.8249_8258delinsCAAATAGT (p.Leu2750fs)
|
|
|
|
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)
|
rs864622389
|
|
|
NM_000051.4(ATM):c.8251_8254del (p.Thr2751fs)
|
rs786202120
|
|
|
NM_000051.4(ATM):c.8252C>G (p.Thr2751Ser)
|
rs2086800136
|
|
|
NM_000051.4(ATM):c.8253T>C (p.Thr2751=)
|
|
|
|
NM_000051.4(ATM):c.8253dup (p.Ile2752fs)
|
|
|
|
NM_000051.4(ATM):c.8258G>T (p.Cys2753Phe)
|
rs1284049490
|
|
|
NM_000051.4(ATM):c.825A>G (p.Leu275=)
|
|
|
|
NM_000051.4(ATM):c.8262T>G (p.Thr2754=)
|
rs1057521506
|
|
|
NM_000051.4(ATM):c.8264A>C (p.Tyr2755Ser)
|
rs1591199410
|
|
|
NM_000051.4(ATM):c.8264dup (p.Tyr2755Ter)
|
|
|
|
NM_000051.4(ATM):c.8265T>A (p.Tyr2755Ter)
|
rs758654836
|
|
|
NM_000051.4(ATM):c.8265T>G (p.Tyr2755Ter)
|
rs758654836
|
|
|
NM_000051.4(ATM):c.8265del (p.Thr2754_Tyr2755insTer)
|
|
|
|
NM_000051.4(ATM):c.8267A>G (p.Lys2756Arg)
|
rs1555128635
|
|
|
NM_000051.4(ATM):c.8268+1G>A
|
rs876658957
|
|
|
NM_000051.4(ATM):c.8268+1G>T
|
rs876658957
|
|
|
NM_000051.4(ATM):c.8268+2T>C
|
rs1565544020
|
|
|
NM_000051.4(ATM):c.8268+7A>G
|
rs1057524565
|
|
|
NM_000051.4(ATM):c.8268+7A>T
|
rs1057524565
|
|
|
NM_000051.4(ATM):c.8268+8T>A
|
rs1263247290
|
|
|
NM_000051.4(ATM):c.8268+8T>G
|
|
|
|
NM_000051.4(ATM):c.8268+9T>C
|
rs2136701769
|
|
|
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)
|
rs1555128642
|
|
|
NM_000051.4(ATM):c.8269-10G>A
|
|
|
|
NM_000051.4(ATM):c.8269-10_8269-9del
|
rs587780641
|
|
|
NM_000051.4(ATM):c.8269-12C>T
|
|
|
|
NM_000051.4(ATM):c.8269-1G>A
|
|
|
|
NM_000051.4(ATM):c.8269-20T>C
|
|
|
|
NM_000051.4(ATM):c.8269-4C>T
|
|
|
|
NM_000051.4(ATM):c.8269-8A>G
|
|
|
|
NM_000051.4(ATM):c.8269-9T>C
|
rs2136938827
|
|
|
NM_000051.4(ATM):c.8271G>A (p.Val2757=)
|
|
|
|
NM_000051.4(ATM):c.8274del (p.Leu2760fs)
|
|
|
|
NM_000051.4(ATM):c.8277C>T (p.Pro2759=)
|
rs878853548
|
|
|
NM_000051.4(ATM):c.8279del (p.Leu2760fs)
|
|
|
|
NM_000051.4(ATM):c.8280C>G (p.Leu2760=)
|
|
|
|
NM_000051.4(ATM):c.8281_8284del (p.Gln2762fs)
|
rs775899653
|
|
|
NM_000051.4(ATM):c.8283_8284del (p.Gln2762fs)
|
rs775899653
|
|
|
NM_000051.4(ATM):c.8286G>A (p.Gln2762=)
|
|
|
|
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter)
|
rs876659872
|
|
|
NM_000051.4(ATM):c.8288del (p.Arg2763fs)
|
rs886039630
|
|
|
NM_000051.4(ATM):c.8291dup (p.Ser2764fs)
|
|
|
|
NM_000051.4(ATM):c.8292T>C (p.Ser2764=)
|
rs781690523
|
|
|
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs)
|
rs879254036
|
|
|
NM_000051.4(ATM):c.8296G>A (p.Val2766Ile)
|
rs730881322
|
|
|
NM_000051.4(ATM):c.8301T>C (p.Leu2767=)
|
rs1060504303
|
|
|
NM_000051.4(ATM):c.8304A>G (p.Glu2768=)
|
|
|
|
NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs)
|
rs786202318
|
|
|
NM_000051.4(ATM):c.8305del (p.Trp2769fs)
|
|
|
|
NM_000051.4(ATM):c.8312C>T (p.Thr2771Ile)
|
rs771781881
|
|
|
NM_000051.4(ATM):c.8313A>C (p.Thr2771=)
|
rs1555135563
|
|
|
NM_000051.4(ATM):c.8315del (p.Gly2772fs)
|
|
|
|
NM_000051.4(ATM):c.8319T>C (p.Thr2773=)
|
rs1591248170
|
|
|
NM_000051.4(ATM):c.8319_8323dup (p.Pro2775fs)
|
rs1555135596
|
|
|
NM_000051.4(ATM):c.8320G>C (p.Val2774Leu)
|
rs2087821053
|
|
|
NM_000051.4(ATM):c.8325C>T (p.Pro2775=)
|
|
|
|
NM_000051.4(ATM):c.8325del (p.Ile2776fs)
|
rs886039623
|
|
|
NM_000051.4(ATM):c.8328T>C (p.Ile2776=)
|
|
|
|
NM_000051.4(ATM):c.8329G>A (p.Gly2777Ser)
|
rs2087823795
|
|
|
NM_000051.4(ATM):c.8331T>A (p.Gly2777=)
|
|
|
|
NM_000051.4(ATM):c.8332G>T (p.Glu2778Ter)
|
|
|
|
NM_000051.4(ATM):c.8343del (p.Asn2782fs)
|
|
|
|
NM_000051.4(ATM):c.8346C>T (p.Asn2782=)
|
rs999357615
|
|
|
NM_000051.4(ATM):c.8349T>C (p.Asn2783=)
|
rs1555135681
|
|
|
NM_000051.4(ATM):c.834C>G (p.Val278=)
|
rs2079769316
|
|
|
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn)
|
rs587782417
|
|
|
NM_000051.4(ATM):c.8353G>C (p.Asp2785His)
|
|
|
|
NM_000051.4(ATM):c.8363del (p.His2788fs)
|
|
|
|
NM_000051.4(ATM):c.8367A>G (p.Lys2789=)
|
rs1393366622
|
|
|
NM_000051.4(ATM):c.8367_8368del (p.Arg2790fs)
|
|
|
|
NM_000051.4(ATM):c.8367delinsTT (p.Lys2789fs)
|
rs786202418
|
|
|
NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs)
|
rs1064793046
|
|
|
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)
|
rs1060504292
|
|
|
NM_000051.4(ATM):c.8373C>G (p.Tyr2791Ter)
|
rs1060504292
|
|
|
NM_000051.4(ATM):c.8373C>T (p.Tyr2791=)
|
rs1060504292
|
|
|
NM_000051.4(ATM):c.8376G>A (p.Arg2792=)
|
|
|
|
NM_000051.4(ATM):c.8376del (p.Arg2792fs)
|
|
|
|
NM_000051.4(ATM):c.837T>C (p.Ile279=)
|
rs2135242369
|
|
|
NM_000051.4(ATM):c.8381_8382delinsC (p.Asn2794fs)
|
|
|
|
NM_000051.4(ATM):c.8381del (p.Asn2794fs)
|
rs2136950565
|
|
|
NM_000051.4(ATM):c.8387_8397del (p.Phe2796fs)
|
|
|
|
NM_000051.4(ATM):c.8387del (p.Phe2796fs)
|
|
|
|
NM_000051.4(ATM):c.8394_8396delinsTGATA (p.Phe2799fs)
|
|
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
|
NM_000051.4(ATM):c.8395_8404dup (p.Gln2802fs)
|
rs786202800
|
|
|
NM_000051.4(ATM):c.8397del (p.Gln2800fs)
|
rs587781837
|
|
|
NM_000051.4(ATM):c.8400G>A (p.Gln2800=)
|
|
|
|
NM_000051.4(ATM):c.8400G>T (p.Gln2800His)
|
rs879253901
|
|
|
NM_000051.4(ATM):c.8403C>A (p.Cys2801Ter)
|
rs1555135852
|
|
|
NM_000051.4(ATM):c.8408del (p.Lys2803fs)
|
rs1591249359
|
|
|
NM_000051.4(ATM):c.840T>A (p.Ile280=)
|
|
|
|
NM_000051.4(ATM):c.8413A>G (p.Met2805Val)
|
|
|
|
NM_000051.4(ATM):c.8416_8418+5del
|
rs1591249480
|
|
|
NM_000051.4(ATM):c.8418+1G>A
|
rs766533795
|
|
|
NM_000051.4(ATM):c.8418+1_8418+3del
|
rs2136953867
|
|
|
NM_000051.4(ATM):c.8418+2T>C
|
rs1060501713
|
|
|
NM_000051.4(ATM):c.8418+5G>A
|
rs1305740166
|
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
|
NM_000051.4(ATM):c.8418+681A>G
|
|
|
|
NM_000051.4(ATM):c.8418+7G>A
|
rs2136954579
|
|
|
NM_000051.4(ATM):c.8418+8A>G
|
rs1591249687
|
|
|
NM_000051.4(ATM):c.8418+9C>T
|
|
|
|
NM_000051.4(ATM):c.8418G>T (p.Met2806Ile)
|
rs762744146
|
|
|
NM_000051.4(ATM):c.8419-10C>T
|
|
|
|
NM_000051.4(ATM):c.8419-14T>C
|
rs1441150092
|
|
|
NM_000051.4(ATM):c.8419-16T>C
|
rs2137021914
|
|
|
NM_000051.4(ATM):c.8419-17A>G
|
rs1057520452
|
|
|
NM_000051.4(ATM):c.8419-20T>C
|
|
|
|
NM_000051.4(ATM):c.8419-22TA[2]
|
rs1257766623
|
|
|
NM_000051.4(ATM):c.8419-2A>C
|
rs1555137917
|
|
|
NM_000051.4(ATM):c.8419-3_8419-1del
|
|
|
|
NM_000051.4(ATM):c.8419-7T>C
|
rs1591263768
|
|
|
NM_000051.4(ATM):c.8419-8A>G
|
rs567215034
|
|
|
NM_000051.4(ATM):c.8419G>T (p.Glu2807Ter)
|
rs1555137929
|
|
|
NM_000051.4(ATM):c.8421G>A (p.Glu2807=)
|
rs1555137945
|
|
|
NM_000051.4(ATM):c.8423T>C (p.Val2808Ala)
|
rs1359195708
|
|
|
NM_000051.4(ATM):c.8424G>A (p.Val2808=)
|
|
|
|
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)
|
rs1555137973
|
|
|
NM_000051.4(ATM):c.8430A>G (p.Lys2810=)
|
rs2088266802
|
|
|
NM_000051.4(ATM):c.8431A>T (p.Lys2811Ter)
|
rs1131691158
|
|
|
NM_000051.4(ATM):c.8431_8432del (p.Lys2811fs)
|
rs587782558
|
|
|
NM_000051.4(ATM):c.8432del (p.Lys2811fs)
|
rs587782558
|
|
|
NM_000051.4(ATM):c.8432dup (p.Ser2812fs)
|
rs587782558
|
|
|
NM_000051.4(ATM):c.8434T>C (p.Ser2812Pro)
|
rs786202372
|
|
|
NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs)
|
rs767533596
|
|
|
NM_000051.4(ATM):c.8436T>A (p.Ser2812=)
|
|
|
|
NM_000051.4(ATM):c.8439T>C (p.Phe2813=)
|
|
|
|
NM_000051.4(ATM):c.843A>G (p.Glu281=)
|
rs1057523419
|
|
|
NM_000051.4(ATM):c.8440G>T (p.Glu2814Ter)
|
|
|
|
NM_000051.4(ATM):c.8440del (p.Glu2814fs)
|
rs752526400
|
|
|
NM_000051.4(ATM):c.8441A>G (p.Glu2814Gly)
|
|
|
|
NM_000051.4(ATM):c.844T>C (p.Leu282=)
|
rs1565371944
|
|
|
NM_000051.4(ATM):c.8451T>C (p.Tyr2817=)
|
|
|
|
NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter)
|
rs2137026687
|
|
|
NM_000051.4(ATM):c.8457C>G (p.Val2819=)
|
rs2137027225
|
|
|
NM_000051.4(ATM):c.8457C>T (p.Val2819=)
|
|
|
|
NM_000051.4(ATM):c.8457del (p.Phe2820fs)
|
|
|
|
NM_000051.4(ATM):c.845T>A (p.Leu282Ter)
|
|
|
|
NM_000051.4(ATM):c.845T>G (p.Leu282Ter)
|
rs2135242595
|
|
|
NM_000051.4(ATM):c.8462T>G (p.Met2821Arg)
|
rs1555138065
|
|
|
NM_000051.4(ATM):c.8466_8479delinsC (p.Val2823fs)
|
|
|
|
NM_000051.4(ATM):c.8469T>A (p.Val2823=)
|
|
|
|
NM_000051.4(ATM):c.8472C>A (p.Cys2824Ter)
|
|
|
|
NM_000051.4(ATM):c.8472C>T (p.Cys2824=)
|
rs1555138090
|
|
|
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)
|
rs587781363
|
|
|
NM_000051.4(ATM):c.8473_8479del (p.Gln2825fs)
|
rs2137028850
|
|
|
NM_000051.4(ATM):c.8475A>G (p.Gln2825=)
|
rs769656947
|
|
|
NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs)
|
rs786203272
|
|
|
NM_000051.4(ATM):c.8477A>G (p.Asn2826Ser)
|
rs1591264493
|
|
|
NM_000051.4(ATM):c.8477dup (p.Asn2826fs)
|
|
|
|
NM_000051.4(ATM):c.8478T>C (p.Asn2826=)
|
rs1315026465
|
|
|
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)
|
rs121434216
|
|
|
NM_000051.4(ATM):c.8482C>T (p.Gln2828Ter)
|
rs1555138125
|
|
|
NM_000051.4(ATM):c.8484del (p.Gln2828fs)
|
rs1565563579
|
|
|
NM_000051.4(ATM):c.8490T>C (p.Val2830=)
|
rs773149592
|
|
|
NM_000051.4(ATM):c.8492del (p.Phe2831fs)
|
|
|
|
NM_000051.4(ATM):c.8502C>T (p.Phe2834=)
|
rs1555138167
|
|
|
NM_000051.4(ATM):c.8504dup (p.Cys2835fs)
|
rs2137031805
|
|
|
NM_000051.4(ATM):c.8508delinsTTT (p.Met2836fs)
|
|
|
|
NM_000051.4(ATM):c.850C>T (p.Gln284Ter)
|
rs757782702
|
|
|
NM_000051.4(ATM):c.8514A>G (p.Lys2838=)
|
rs1591264927
|
|
|
NM_000051.4(ATM):c.8517_8518del (p.Leu2840fs)
|
|
|
|
NM_000051.4(ATM):c.8518T>C (p.Leu2840=)
|
rs794727769
|
|
|
NM_000051.4(ATM):c.8524C>T (p.Pro2842Ser)
|
rs876659505
|
|
|
NM_000051.4(ATM):c.8526A>C (p.Pro2842=)
|
|
|
|
NM_000051.4(ATM):c.8526A>G (p.Pro2842=)
|
rs900737596
|
|
|
NM_000051.4(ATM):c.8528C>T (p.Ala2843Val)
|
rs1060501637
|
|
|
NM_000051.4(ATM):c.8531_8534del (p.Ile2844fs)
|
|
|
|
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)
|
rs1555138291
|
|
|
NM_000051.4(ATM):c.853C>T (p.Leu285=)
|
|
|
|
NM_000051.4(ATM):c.8550G>A (p.Leu2850=)
|
rs1591265370
|
|
|
NM_000051.4(ATM):c.8551_8554dup (p.Tyr2852fs)
|
rs2088299549
|
|
|
NM_000051.4(ATM):c.8553T>G (p.Ala2851=)
|
|
|
|
NM_000051.4(ATM):c.8555dup (p.Tyr2852Ter)
|
|
|
|
NM_000051.4(ATM):c.8556T>C (p.Tyr2852=)
|
rs779394254
|
|
|
NM_000051.4(ATM):c.8556T>G (p.Tyr2852Ter)
|
rs779394254
|
|
|
NM_000051.4(ATM):c.8559G>A (p.Thr2853=)
|
rs368058202
|
|
|
NM_000051.4(ATM):c.8559G>C (p.Thr2853=)
|
rs368058202
|
|
|
NM_000051.4(ATM):c.855G>C (p.Leu285=)
|
rs863224299
|
|
|
NM_000051.4(ATM):c.855del (p.Gln286fs)
|
rs1555067251
|
|
|
NM_000051.4(ATM):c.8562C>T (p.Arg2854=)
|
rs878853550
|
|
|
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg)
|
rs780905851
|
|
|
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle)
|
rs587781353
|
|
|
NM_000051.4(ATM):c.856C>T (p.Gln286Ter)
|
rs2135242925
|
|
|
NM_000051.4(ATM):c.8571T>C (p.Ala2857=)
|
rs786203050
|
|
|
NM_000051.4(ATM):c.8571T>G (p.Ala2857=)
|
rs786203050
|
|
|
NM_000051.4(ATM):c.8573C>T (p.Thr2858Ile)
|
|
|
|
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del)
|
rs786203976
|
|
|
NM_000051.4(ATM):c.8582T>C (p.Ile2861Thr)
|
rs2137038745
|
|
|
NM_000051.4(ATM):c.8584+1G>C
|
rs876658182
|
|
|
NM_000051.4(ATM):c.8584+2T>A
|
|
|
|
NM_000051.4(ATM):c.8584+4A>G
|
rs1555138484
|
|
|
NM_000051.4(ATM):c.8584+6C>T
|
|
|
|
NM_000051.4(ATM):c.8584+7T>C
|
rs1374271708
|
|
|
NM_000051.4(ATM):c.8584+7T>G
|
rs1374271708
|
|
|
NM_000051.4(ATM):c.8584+8T>C
|
|
|
|
NM_000051.4(ATM):c.8584+8del
|
|
|
|
NM_000051.4(ATM):c.8584+9_8584+11del
|
rs1064794534
|
|
|
NM_000051.4(ATM):c.8584+9del
|
rs1565564405
|
|
|
NM_000051.4(ATM):c.8585-11T>C
|
|
|
|
NM_000051.4(ATM):c.8585-13C>T
|
|
|
|
NM_000051.4(ATM):c.8585-13_8598del
|
rs1555139443
|
|
|
NM_000051.4(ATM):c.8585-16T>C
|
|
|
|
NM_000051.4(ATM):c.8585-17G>A
|
|
|
|
NM_000051.4(ATM):c.8585-17G>C
|
|
|
|
NM_000051.4(ATM):c.8585-19T>C
|
rs2137076742
|
|
|
NM_000051.4(ATM):c.8585-1G>A
|
rs876660066
|
|
|
NM_000051.4(ATM):c.8585-1G>C
|
|
|
|
NM_000051.4(ATM):c.8585-2A>C
|
rs1060501700
|
|
|
NM_000051.4(ATM):c.8585-2A>G
|
rs1060501700
|
|
|
NM_000051.4(ATM):c.8585-3_8585-1delinsT
|
|
|
|
NM_000051.4(ATM):c.8585-4C>T
|
rs1555139447
|
|
|
NM_000051.4(ATM):c.8585-6C>T
|
rs2137077591
|
|
|
NM_000051.4(ATM):c.8585-8T>C
|
rs2137077459
|
|
|
NM_000051.4(ATM):c.8589T>A (p.Gly2863=)
|
|
|
|
NM_000051.4(ATM):c.8596C>T (p.Leu2866Phe)
|
rs368666328
|
|
|
NM_000051.4(ATM):c.8598T>G (p.Leu2866=)
|
|
|
|
NM_000051.4(ATM):c.8598dup (p.Gly2867fs)
|
|
|
|
NM_000051.4(ATM):c.8601A>T (p.Gly2867=)
|
|
|
|
NM_000051.4(ATM):c.8604T>G (p.Leu2868=)
|
rs2088545756
|
|
|
NM_000051.4(ATM):c.8610T>C (p.Asp2870=)
|
rs1370524851
|
|
|
NM_000051.4(ATM):c.8622_8624delinsTT (p.Gln2874fs)
|
|
|
|
NM_000051.4(ATM):c.8624del (p.Asn2875fs)
|
|
|
|
NM_000051.4(ATM):c.8624dup (p.Asn2875fs)
|
rs876660411
|
|
|
NM_000051.4(ATM):c.8628_8629del (p.Leu2877fs)
|
|
|
|
NM_000051.4(ATM):c.8630T>A (p.Leu2877Ter)
|
|
|
|
NM_000051.4(ATM):c.8631G>A (p.Leu2877=)
|
rs1064794840
|
|
|
NM_000051.4(ATM):c.8638G>T (p.Glu2880Ter)
|
|
|
|
NM_000051.4(ATM):c.8641C>T (p.Gln2881Ter)
|
rs1057520672
|
|
|
NM_000051.4(ATM):c.864T>C (p.Tyr288=)
|
|
|
|
NM_000051.4(ATM):c.8652dup (p.Leu2885fs)
|
rs2088559453
|
|
|
NM_000051.4(ATM):c.8655T>C (p.Leu2885=)
|
rs1555139640
|
|
|
NM_000051.4(ATM):c.8655dup (p.Val2886fs)
|
rs753961188
|
|
|
NM_000051.4(ATM):c.8658_8660del (p.His2887del)
|
|
|
|
NM_000051.4(ATM):c.8659_8662del (p.Val2886_His2887insTer)
|
|
|
|
NM_000051.4(ATM):c.8660A>G (p.His2887Arg)
|
rs864622173
|
|
|
NM_000051.4(ATM):c.8661T>C (p.His2887=)
|
|
|
|
NM_000051.4(ATM):c.8663T>C (p.Ile2888Thr)
|
rs760955058
|
|
|
NM_000051.4(ATM):c.8664A>T (p.Ile2888=)
|
|
|
|
NM_000051.4(ATM):c.8666A>C (p.Asp2889Ala)
|
|
|
|
NM_000051.4(ATM):c.866T>A (p.Ile289Asn)
|
|
|
|
NM_000051.4(ATM):c.8671+1G>A
|
|
|
|
NM_000051.4(ATM):c.8671+1G>C
|
|
|
|
NM_000051.4(ATM):c.8671+1G>T
|
rs1555139694
|
|
|
NM_000051.4(ATM):c.8671+2_8671+3insTA
|
rs2137087134
|
|
|
NM_000051.4(ATM):c.8671+2del
|
|
|
|
NM_000051.4(ATM):c.8671+7A>G
|
|
|
|
NM_000051.4(ATM):c.8671+8A>G
|
|
|
|
NM_000051.4(ATM):c.8671+9T>C
|
rs200190537
|
|
|
NM_000051.4(ATM):c.8671G>T (p.Gly2891Cys)
|
rs1565567541
|
|
|
NM_000051.4(ATM):c.8671_8671+1del
|
|
|
|
NM_000051.4(ATM):c.8672-13T>C
|
|
|
|
NM_000051.4(ATM):c.8672-13T>G
|
rs730881280
|
|
|
NM_000051.4(ATM):c.8672-14_8675del
|
|
|
|
NM_000051.4(ATM):c.8672-16G>A
|
|
|
|
NM_000051.4(ATM):c.8672-17T>C
|
|
|
|
NM_000051.4(ATM):c.8672-1G>A
|
rs876660088
|
|
|
NM_000051.4(ATM):c.8672-20C>T
|
|
|
|
NM_000051.4(ATM):c.8672-3T>G
|
rs1060501550
|
|
|
NM_000051.4(ATM):c.8672-7A>T
|
|
|
|
NM_000051.4(ATM):c.8672-8T>C
|
|
|
|
NM_000051.4(ATM):c.8672-9T>C
|
rs2137283941
|
|
|
NM_000051.4(ATM):c.8672G>T (p.Gly2891Val)
|
rs748192003
|
|
|
NM_000051.4(ATM):c.8676dup (p.Ala2893fs)
|
rs2089492486
|
|
|
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter)
|
rs1565579084
|
|
|
NM_000051.4(ATM):c.8683G>T (p.Glu2895Ter)
|
|
|
|
NM_000051.4(ATM):c.8686C>T (p.Gln2896Ter)
|
rs2137286457
|
|
|
NM_000051.4(ATM):c.8690G>A (p.Gly2897Asp)
|
rs1591306536
|
|
|
NM_000051.4(ATM):c.8691C>A (p.Gly2897=)
|
rs1555142814
|
|
|
NM_000051.4(ATM):c.8691C>G (p.Gly2897=)
|
|
|
|
NM_000051.4(ATM):c.8691C>T (p.Gly2897=)
|
|
|
|
NM_000051.4(ATM):c.8692A>G (p.Lys2898Glu)
|
rs2137287369
|
|
|
NM_000051.4(ATM):c.8695A>G (p.Ile2899Val)
|
rs1591306598
|
|
|
NM_000051.4(ATM):c.8695dup (p.Ile2899fs)
|
rs1555142816
|
|
|
NM_000051.4(ATM):c.8697C>A (p.Ile2899=)
|
|
|
|
NM_000051.4(ATM):c.8703T>G (p.Pro2901=)
|
|
|
|
NM_000051.4(ATM):c.8705C>T (p.Thr2902Ile)
|
rs1591306636
|
|
|
NM_000051.4(ATM):c.8706T>C (p.Thr2902=)
|
rs1555142824
|
|
|
NM_000051.4(ATM):c.8708del (p.Pro2903fs)
|
|
|
|
NM_000051.4(ATM):c.8709T>G (p.Pro2903=)
|
|
|
|
NM_000051.4(ATM):c.8710G>A (p.Glu2904Lys)
|
|
|
|
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly)
|
rs786202826
|
|
|
NM_000051.4(ATM):c.8712G>A (p.Glu2904=)
|
rs1349488841
|
|
|
NM_000051.4(ATM):c.8715A>G (p.Thr2905=)
|
rs786202933
|
|
|
NM_000051.4(ATM):c.871C>G (p.His291Asp)
|
rs1555067280
|
|
|
NM_000051.4(ATM):c.8720del (p.Pro2907fs)
|
|
|
|
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)
|
rs1555142845
|
|
|
NM_000051.4(ATM):c.8727A>G (p.Arg2909=)
|
|
|
|
NM_000051.4(ATM):c.872A>G (p.His291Arg)
|
rs1555067285
|
|
|
NM_000051.4(ATM):c.8730C>A (p.Leu2910=)
|
rs551041839
|
|
|
NM_000051.4(ATM):c.8731dup (p.Thr2911fs)
|
rs2137291352
|
|
|
NM_000051.4(ATM):c.8733C>A (p.Thr2911=)
|
rs1057523011
|
|
|
NM_000051.4(ATM):c.8733C>T (p.Thr2911=)
|
rs1057523011
|
|
|
NM_000051.4(ATM):c.8737G>C (p.Asp2913His)
|
rs756899044
|
|
|
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr)
|
rs756899044
|
|
|
NM_000051.4(ATM):c.8739T>C (p.Asp2913=)
|
rs764778912
|
|
|
NM_000051.4(ATM):c.8742T>C (p.Ile2914=)
|
|
|
|
NM_000051.4(ATM):c.8748T>C (p.Asp2916=)
|
rs2137293260
|
|
|
NM_000051.4(ATM):c.8751C>G (p.Gly2917=)
|
rs779858366
|
|
|
NM_000051.4(ATM):c.8756G>A (p.Gly2919Asp)
|
rs2137294046
|
|
|
NM_000051.4(ATM):c.8757C>T (p.Gly2919=)
|
rs987508358
|
|
|
NM_000051.4(ATM):c.8761dup (p.Thr2921fs)
|
|
|
|
NM_000051.4(ATM):c.8763G>A (p.Thr2921=)
|
rs781528244
|
|
|
NM_000051.4(ATM):c.8763G>C (p.Thr2921=)
|
|
|
|
NM_000051.4(ATM):c.8763G>T (p.Thr2921=)
|
rs781528244
|
|
|
NM_000051.4(ATM):c.8764_8768delinsTGTC (p.Gly2922fs)
|
|
|
|
NM_000051.4(ATM):c.8766T>C (p.Gly2922=)
|
rs1166849874
|
|
|
NM_000051.4(ATM):c.8766dup (p.Val2923fs)
|
rs876660813
|
|
|
NM_000051.4(ATM):c.876G>C (p.Pro292=)
|
|
|
|
NM_000051.4(ATM):c.876G>T (p.Pro292=)
|
rs755860432
|
|
|
NM_000051.4(ATM):c.877A>T (p.Lys293Ter)
|
rs1057516442
|
|
|
NM_000051.4(ATM):c.8783G>A (p.Arg2928Lys)
|
rs1555142909
|
|
|
NM_000051.4(ATM):c.8784A>G (p.Arg2928=)
|
rs1565579622
|
|
|
NM_000051.4(ATM):c.8786+10A>G
|
rs1591307673
|
|
|
NM_000051.4(ATM):c.8786+10A>T
|
|
|
|
NM_000051.4(ATM):c.8786+16T>C
|
rs1057521277
|
|
|
NM_000051.4(ATM):c.8786+1G>C
|
rs17174393
|
|
|
NM_000051.4(ATM):c.8786+2T>A
|
rs1555142918
|
|
|
NM_000051.4(ATM):c.8786+6_8786+9dup
|
rs1312735736
|
|
|
NM_000051.4(ATM):c.8786+7G>A
|
rs1555142923
|
|
|
NM_000051.4(ATM):c.8786+7G>C
|
|
|
|
NM_000051.4(ATM):c.8786+8A>G
|
rs4986839
|
|
|
NM_000051.4(ATM):c.8786+8A>T
|
rs4986839
|
|
|
NM_000051.4(ATM):c.8786+8_8786+11delinsCTAC
|
|
|
|
NM_000051.4(ATM):c.8786_8786+3del
|
rs1060501569
|
|
|
NM_000051.4(ATM):c.8787-11_8787-8dup
|
|
|
|
NM_000051.4(ATM):c.8787-12G>A
|
|
|
|
NM_000051.4(ATM):c.8787-12G>C
|
rs1565582204
|
|
|
NM_000051.4(ATM):c.8787-16A>C
|
|
|
|
NM_000051.4(ATM):c.8787-19A>G
|
rs1555143457
|
|
|
NM_000051.4(ATM):c.8787-19A>T
|
|
|
|
NM_000051.4(ATM):c.8787-1G>C
|
rs1591313869
|
|
|
NM_000051.4(ATM):c.8787-1dup
|
|
|
|
NM_000051.4(ATM):c.8787-2A>G
|
rs2089688512
|
|
|
NM_000051.4(ATM):c.8787-3T>C
|
rs2089687765
|
|
|
NM_000051.4(ATM):c.8787-5T>C
|
rs1479499265
|
|
|
NM_000051.4(ATM):c.8787-6C>T
|
rs1591313765
|
|
|
NM_000051.4(ATM):c.8787-8G>C
|
|
|
|
NM_000051.4(ATM):c.8787-9dup
|
|
|
|
NM_000051.4(ATM):c.8792G>C (p.Cys2931Ser)
|
rs1060501563
|
|
|
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter)
|
rs1555143494
|
|
|
NM_000051.4(ATM):c.879del (p.Gly294fs)
|
|
|
|
NM_000051.4(ATM):c.87A>G (p.Lys29=)
|
rs1591446799
|
|
|
NM_000051.4(ATM):c.8802C>G (p.Thr2934=)
|
rs1565582354
|
|
|
NM_000051.4(ATM):c.8802del (p.Met2935fs)
|
rs876660567
|
|
|
NM_000051.4(ATM):c.8808A>G (p.Glu2936=)
|
|
|
|
NM_000051.4(ATM):c.880G>A (p.Gly294Arg)
|
|
|
|
NM_000051.4(ATM):c.8810T>A (p.Val2937Glu)
|
rs587782149
|
|
|
NM_000051.4(ATM):c.8811G>A (p.Val2937=)
|
rs1591314147
|
|
|
NM_000051.4(ATM):c.8811G>T (p.Val2937=)
|
rs1591314147
|
|
|
NM_000051.4(ATM):c.8818_8821dup (p.Ser2941Ter)
|
rs876658959
|
|
|
NM_000051.4(ATM):c.8823T>C (p.Ser2941=)
|
rs1060504288
|
|
|
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs)
|
rs1555143538
|
|
|
NM_000051.4(ATM):c.8824C>T (p.Gln2942Ter)
|
rs1591314316
|
|
|
NM_000051.4(ATM):c.8824_8834del (p.Gln2942fs)
|
rs2089695236
|
|
|
NM_000051.4(ATM):c.8826G>A (p.Gln2942=)
|
|
|
|
NM_000051.4(ATM):c.882A>G (p.Gly294=)
|
|
|
|
NM_000051.4(ATM):c.8833C>T (p.Leu2945=)
|
rs786203505
|
|
|
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs)
|
rs786203030
|
|
|
NM_000051.4(ATM):c.8834dup (p.Leu2946fs)
|
|
|
|
NM_000051.4(ATM):c.8835G>A (p.Leu2945=)
|
|
|
|
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs)
|
rs786202547
|
|
|
NM_000051.4(ATM):c.8836T>C (p.Leu2946=)
|
|
|
|
NM_000051.4(ATM):c.8837T>G (p.Leu2946Ter)
|
|
|
|
NM_000051.4(ATM):c.8841C>G (p.Thr2947=)
|
rs2137353155
|
|
|
NM_000051.4(ATM):c.8843T>C (p.Ile2948Thr)
|
rs876659516
|
|
|
NM_000051.4(ATM):c.8848_8850+3del
|
rs2137353827
|
|
|
NM_000051.4(ATM):c.8850+12dup
|
rs1555143639
|
|
|
NM_000051.4(ATM):c.8850+1G>T
|
|
|
|
NM_000051.4(ATM):c.8850+2T>A
|
|
|
|
NM_000051.4(ATM):c.8850+2T>C
|
rs1555143623
|
|
|
NM_000051.4(ATM):c.8850+7T>C
|
rs2137355586
|
|
|
NM_000051.4(ATM):c.8850+8del
|
rs2089705961
|
|
|
NM_000051.4(ATM):c.8850+9T>C
|
|
|
|
NM_000051.4(ATM):c.8850+9T>G
|
rs571828498
|
|
|
NM_000051.4(ATM):c.8851-10C>T
|
rs1057521676
|
|
|
NM_000051.4(ATM):c.8851-15G>A
|
rs1222455348
|
|
|
NM_000051.4(ATM):c.8851-16T>C
|
rs1565607217
|
|
|
NM_000051.4(ATM):c.8851-17A>G
|
rs2091194046
|
|
|
NM_000051.4(ATM):c.8851-17A>T
|
|
|
|
NM_000051.4(ATM):c.8851-19A>T
|
|
|
|
NM_000051.4(ATM):c.8851-1G>C
|
rs1057516537
|
|
|
NM_000051.4(ATM):c.8851-1G>T
|
rs1057516537
|
|
|
NM_000051.4(ATM):c.8851-20C>T
|
|
|
|
NM_000051.4(ATM):c.8851-3T>C
|
rs748874219
|
|
|
NM_000051.4(ATM):c.8851-4_8852del
|
rs2091196613
|
|
|
NM_000051.4(ATM):c.8853C>G (p.Val2951=)
|
rs878853552
|
|
|
NM_000051.4(ATM):c.8857C>T (p.Leu2953=)
|
|
|
|
NM_000051.4(ATM):c.8857_8858del (p.Leu2953fs)
|
rs2091198449
|
|
|
NM_000051.4(ATM):c.8860T>C (p.Tyr2954His)
|
rs371619067
|
|
|
NM_000051.4(ATM):c.8865del (p.Pro2956fs)
|
rs1591384391
|
|
|
NM_000051.4(ATM):c.8868A>C (p.Pro2956=)
|
rs1157772894
|
|
|
NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer)
|
rs864622669
|
|
|
NM_000051.4(ATM):c.8874T>C (p.Phe2958=)
|
|
|
|
NM_000051.4(ATM):c.8874dup (p.Asp2959Ter)
|
rs864622669
|
|
|
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)
|
rs786204726
|
|
|
NM_000051.4(ATM):c.8877C>T (p.Asp2959=)
|
|
|
|
NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter)
|
rs1131691149
|
|
|
NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter)
|
rs1060501650
|
|
|
NM_000051.4(ATM):c.8883C>T (p.Thr2961=)
|
|
|
|
NM_000051.4(ATM):c.8893T>C (p.Leu2965=)
|
rs1060504287
|
|
|
NM_000051.4(ATM):c.8895G>C (p.Leu2965Phe)
|
rs200899512
|
|
|
NM_000051.4(ATM):c.8895G>T (p.Leu2965Phe)
|
rs200899512
|
|
|
NM_000051.4(ATM):c.8903T>A (p.Leu2968Ter)
|
rs1555151315
|
|
|
NM_000051.4(ATM):c.8909del (p.Leu2970fs)
|
|
|
|
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)
|
rs1565607653
|
|
|
NM_000051.4(ATM):c.8919G>A (p.Arg2973=)
|
rs786203613
|
|
|
NM_000051.4(ATM):c.8919G>C (p.Arg2973Ser)
|
rs786203613
|
|
|
NM_000051.4(ATM):c.891C>A (p.Thr297=)
|
|
|
|
NM_000051.4(ATM):c.891C>G (p.Thr297=)
|
rs575285986
|
|
|
NM_000051.4(ATM):c.891C>T (p.Thr297=)
|
|
|
|
NM_000051.4(ATM):c.8923G>C (p.Glu2975Gln)
|
rs2091208125
|
|
|
NM_000051.4(ATM):c.8923G>T (p.Glu2975Ter)
|
rs2091208125
|
|
|
NM_000051.4(ATM):c.8923del (p.Glu2975fs)
|
rs2137879945
|
|
|
NM_000051.4(ATM):c.8925_8928dup (p.Glu2977delinsArgTer)
|
rs1555151395
|
|
|
NM_000051.4(ATM):c.8928T>C (p.Asp2976=)
|
rs786202343
|
|
|
NM_000051.4(ATM):c.8934T>C (p.Thr2978=)
|
rs1057521029
|
|
|
NM_000051.4(ATM):c.8934_8935del (p.Glu2979fs)
|
rs2137881586
|
|
|
NM_000051.4(ATM):c.8937G>A (p.Glu2979=)
|
rs876658242
|
|
|
NM_000051.4(ATM):c.8940dup (p.His2981fs)
|
|
|
|
NM_000051.4(ATM):c.8942A>G (p.His2981Arg)
|
rs750441954
|
|
|
NM_000051.4(ATM):c.8942del (p.His2981fs)
|
rs786203489
|
|
|
NM_000051.4(ATM):c.8946T>C (p.Pro2982=)
|
rs780572651
|
|
|
NM_000051.4(ATM):c.8948C>T (p.Thr2983Ile)
|
rs1472935232
|
|
|
NM_000051.4(ATM):c.894A>C (p.Gln298His)
|
rs1555067327
|
|
|
NM_000051.4(ATM):c.8950C>G (p.Leu2984Val)
|
rs747445236
|
|
|
NM_000051.4(ATM):c.8950C>T (p.Leu2984=)
|
rs747445236
|
|
|
NM_000051.4(ATM):c.8959G>C (p.Asp2987His)
|
rs863224582
|
|
|
NM_000051.4(ATM):c.8959G>T (p.Asp2987Tyr)
|
rs863224582
|
|
|
NM_000051.4(ATM):c.895G>T (p.Glu299Ter)
|
|
|
|
NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter)
|
rs147695170
|
|
|
NM_000051.4(ATM):c.8967A>G (p.Gln2989=)
|
rs876659033
|
|
|
NM_000051.4(ATM):c.8967del (p.Glu2990fs)
|
|
|
|
NM_000051.4(ATM):c.8968G>T (p.Glu2990Ter)
|
|
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
|
NM_000051.4(ATM):c.8979A>C (p.Arg2993=)
|
rs1042288533
|
|
|
NM_000051.4(ATM):c.8979A>G (p.Arg2993=)
|
rs1042288533
|
|
|
NM_000051.4(ATM):c.8982T>C (p.Asn2994=)
|
rs2137888159
|
|
|
NM_000051.4(ATM):c.8987+10A>G
|
rs1060504308
|
|
|
NM_000051.4(ATM):c.8987+1G>C
|
rs786203631
|
|
|
NM_000051.4(ATM):c.8987+8G>C
|
rs2137889967
|
|
|
NM_000051.4(ATM):c.8988-14G>A
|
|
|
|
NM_000051.4(ATM):c.8988-14_8988-13del
|
|
|
|
NM_000051.4(ATM):c.8988-16G>A
|
|
|
|
NM_000051.4(ATM):c.8988-19T>C
|
rs2137900568
|
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
|
NM_000051.4(ATM):c.8988-27C>G
|
|
|
|
NM_000051.4(ATM):c.8988-2A>G
|
rs786202087
|
|
|
NM_000051.4(ATM):c.8988-3T>C
|
rs1565608600
|
|
|
NM_000051.4(ATM):c.8988-5C>T
|
rs1591386387
|
|
|
NM_000051.4(ATM):c.8988-9del
|
|
|
|
NM_000051.4(ATM):c.8997C>T (p.Asp2999=)
|
|
|
|
NM_000051.4(ATM):c.8del (p.Leu3fs)
|
rs879254052
|
|
|
NM_000051.4(ATM):c.9001_9002del (p.Ser3001fs)
|
rs876660022
|
|
|
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn)
|
rs587781413
|
|
|
NM_000051.4(ATM):c.9003T>C (p.Ser3001=)
|
|
|
|
NM_000051.4(ATM):c.9005del (p.Phe3002fs)
|
rs876659235
|
|
|
NM_000051.4(ATM):c.9006C>A (p.Phe3002Leu)
|
rs540172506
|
|
|
NM_000051.4(ATM):c.9007_9034del (p.Asn3003fs)
|
rs2137906600
|
|
|
NM_000051.4(ATM):c.9008A>G (p.Asn3003Ser)
|
rs144636562
|
|
|
NM_000051.4(ATM):c.900del (p.Gly301fs)
|
rs1555067335
|
|
|
NM_000051.4(ATM):c.900dup (p.Gly301fs)
|
rs1555067335
|
|
|
NM_000051.4(ATM):c.901+1G>C
|
rs748840480
|
|
|
NM_000051.4(ATM):c.901+1G>T
|
rs748840480
|
|
|
NM_000051.4(ATM):c.901+1_901+26del
|
rs1380265721
|
|
|
NM_000051.4(ATM):c.901+5A>G
|
|
|
|
NM_000051.4(ATM):c.901+7del
|
|
|
|
NM_000051.4(ATM):c.901+8G>A
|
rs1468806933
|
|
|
NM_000051.4(ATM):c.9018T>G (p.Ala3006=)
|
|
|
|
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)
|
rs876660382
|
|
|
NM_000051.4(ATM):c.901G>A (p.Gly301Ser)
|
rs1064797160
|
|
|
NM_000051.4(ATM):c.902-10T>C
|
rs2135264378
|
|
|
NM_000051.4(ATM):c.902-10del
|
rs1565374819
|
|
|
NM_000051.4(ATM):c.902-12T>C
|
|
|
|
NM_000051.4(ATM):c.902-15T>C
|
rs2135264272
|
|
|
NM_000051.4(ATM):c.902-16A>C
|
|
|
|
NM_000051.4(ATM):c.902-1G>A
|
rs1064793518
|
|
|
NM_000051.4(ATM):c.902-2A>T
|
rs2079877131
|
|
|
NM_000051.4(ATM):c.902-7A>G
|
rs2135264458
|
|
|
NM_000051.4(ATM):c.902-7A>T
|
|
|
|
NM_000051.4(ATM):c.902-8G>T
|
|
|
|
NM_000051.4(ATM):c.9021A>C (p.Glu3007Asp)
|
rs1565608897
|
|
|
NM_000051.4(ATM):c.9021dup (p.Arg3008fs)
|
rs876660235
|
|
|
NM_000051.4(ATM):c.9024T>C (p.Arg3008=)
|
rs876658179
|
|
|
NM_000051.4(ATM):c.9025G>A (p.Val3009Ile)
|
|
|
|
NM_000051.4(ATM):c.9027C>G (p.Val3009=)
|
rs1200351979
|
|
|
NM_000051.4(ATM):c.9027C>T (p.Val3009=)
|
|
|
|
NM_000051.4(ATM):c.9039A>G (p.Leu3013=)
|
rs876659127
|
|
|
NM_000051.4(ATM):c.9039dup (p.Gln3014fs)
|
rs879253972
|
|
|
NM_000051.4(ATM):c.903T>A (p.Gly301=)
|
rs876659335
|
|
|
NM_000051.4(ATM):c.903T>C (p.Gly301=)
|
rs876659335
|
|
|
NM_000051.4(ATM):c.903T>G (p.Gly301=)
|
rs876659335
|
|
|
NM_000051.4(ATM):c.9040C>T (p.Gln3014Ter)
|
rs2137911487
|
|
|
NM_000051.4(ATM):c.9042A>G (p.Gln3014=)
|
rs1060504291
|
|
|
NM_000051.4(ATM):c.9045_9052dup (p.Lys3018delinsArgAsnTer)
|
rs1555151827
|
|
|
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)
|
rs587782847
|
|
|
NM_000051.4(ATM):c.9048A>G (p.Lys3016=)
|
rs553001467
|
|
|
NM_000051.4(ATM):c.9051G>A (p.Leu3017=)
|
rs1467393169
|
|
|
NM_000051.4(ATM):c.9051del (p.Gly3019fs)
|
|
|
|
NM_000051.4(ATM):c.9060G>A (p.Val3020=)
|
rs864622625
|
|
|
NM_000051.4(ATM):c.9061G>T (p.Glu3021Ter)
|
rs2091244384
|
|
|
NM_000051.4(ATM):c.9063A>G (p.Glu3021=)
|
rs1555151874
|
|
|
NM_000051.4(ATM):c.9064dup (p.Glu3022fs)
|
rs1057516282
|
|
|
NM_000051.4(ATM):c.9068G>A (p.Gly3023Asp)
|
rs769548726
|
|
|
NM_000051.4(ATM):c.9068del (p.Gly3023fs)
|
rs1591387383
|
|
|
NM_000051.4(ATM):c.9069C>G (p.Gly3023=)
|
|
|
|
NM_000051.4(ATM):c.906T>G (p.Ala302=)
|
|
|
|
NM_000051.4(ATM):c.9070A>C (p.Thr3024Pro)
|
rs587781630
|
|
|
NM_000051.4(ATM):c.9073del (p.Val3025fs)
|
rs1555151928
|
|
|
NM_000051.4(ATM):c.9073dup (p.Val3025fs)
|
rs2137916728
|
|
|
NM_000051.4(ATM):c.9075G>C (p.Val3025=)
|
|
|
|
NM_000051.4(ATM):c.9078C>T (p.Leu3026=)
|
rs901284125
|
|
|
NM_000051.4(ATM):c.9079_9080del (p.Ser3027fs)
|
rs1591387609
|
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
|
NM_000051.4(ATM):c.9080G>T (p.Ser3027Ile)
|
rs1565609342
|
|
|
NM_000051.4(ATM):c.9081T>C (p.Ser3027=)
|
rs2091248229
|
|
|
NM_000051.4(ATM):c.9084T>C (p.Val3028=)
|
rs786203210
|
|
|
NM_000051.4(ATM):c.9086_9096del (p.Gly3029fs)
|
rs2137919004
|
|
|
NM_000051.4(ATM):c.9090A>G (p.Gly3030=)
|
|
|
|
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)
|
rs2091249987
|
|
|
NM_000051.4(ATM):c.9096G>A (p.Val3032=)
|
rs1565609478
|
|
|
NM_000051.4(ATM):c.9096G>C (p.Val3032=)
|
|
|
|
NM_000051.4(ATM):c.909T>C (p.Tyr303=)
|
rs1555068288
|
|
|
NM_000051.4(ATM):c.90del (p.Phe30fs)
|
rs2135011143
|
|
|
NM_000051.4(ATM):c.9100T>C (p.Leu3034=)
|
rs2091251592
|
|
|
NM_000051.4(ATM):c.9102G>A (p.Leu3034=)
|
|
|
|
NM_000051.4(ATM):c.9105C>A (p.Leu3035=)
|
|
|
|
NM_000051.4(ATM):c.9108dup (p.Gln3037fs)
|
|
|
|
NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter)
|
rs1555152009
|
|
|
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter)
|
rs1591387978
|
|
|
NM_000051.4(ATM):c.9112del (p.Gln3038fs)
|
rs587779878
|
|
|
NM_000051.4(ATM):c.9113A>T (p.Gln3038Leu)
|
rs1131691391
|
|
|
NM_000051.4(ATM):c.9113del (p.Gln3038fs)
|
|
|
|
NM_000051.4(ATM):c.9114G>A (p.Gln3038=)
|
|
|
|
NM_000051.4(ATM):c.9117C>A (p.Ala3039=)
|
rs1289926943
|
|
|
NM_000051.4(ATM):c.9117C>T (p.Ala3039=)
|
rs1289926943
|
|
|
NM_000051.4(ATM):c.9123C>T (p.Asp3041=)
|
|
|
|
NM_000051.4(ATM):c.9132_9135dup (p.Arg3047fs)
|
rs2137926139
|
|
|
NM_000051.4(ATM):c.9132del (p.Leu3045fs)
|
|
|
|
NM_000051.4(ATM):c.9133C>T (p.Leu3045Phe)
|
rs1555152033
|
|
|
NM_000051.4(ATM):c.9135C>T (p.Leu3045=)
|
rs2137926498
|
|
|
NM_000051.4(ATM):c.9144T>A (p.Leu3048=)
|
rs2137927802
|
|
|
NM_000051.4(ATM):c.9144T>C (p.Leu3048=)
|
rs2137927802
|
|
|
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs)
|
rs1555152058
|
|
|
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)
|
|
|
|
NM_000051.4(ATM):c.9150A>G (p.Pro3050=)
|
rs2137928625
|
|
|
NM_000051.4(ATM):c.9153A>T (p.Gly3051=)
|
|
|
|
NM_000051.4(ATM):c.9156G>T (p.Trp3052Cys)
|
rs587781711
|
|
|
NM_000051.4(ATM):c.9157A>T (p.Lys3053Ter)
|
rs1555152104
|
|
|
NM_000051.4(ATM):c.9159A>G (p.Lys3053=)
|
rs1060504315
|
|
|
NM_000051.4(ATM):c.915A>C (p.Ser305=)
|
|
|
|
NM_000051.4(ATM):c.9160G>C (p.Ala3054Pro)
|
rs1565609869
|
|
|
NM_000051.4(ATM):c.9161C>A (p.Ala3054Asp)
|
|
|
|
NM_000051.4(ATM):c.9162T>G (p.Ala3054=)
|
|
|
|
NM_000051.4(ATM):c.9168G>A (p.Val3056=)
|
rs1591388522
|
|
|
NM_000051.4(ATM):c.9169T>C (p.Ter3057Arg)
|
rs2091262473
|
|
|
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly)
|
rs2091262473
|
|
|
NM_000051.4(ATM):c.916A>G (p.Thr306Ala)
|
rs1555068304
|
|
|
NM_000051.4(ATM):c.9170G>C (p.Ter3057Ser)
|
rs2091262802
|
|
|
NM_000051.4(ATM):c.9171A>G (p.Ter3057Trp)
|
|
|
|
NM_000051.4(ATM):c.920_921del (p.Lys307fs)
|
rs2135264840
|
|
|
NM_000051.4(ATM):c.921A>T (p.Lys307Asn)
|
rs1555068322
|
|
|
NM_000051.4(ATM):c.924G>A (p.Trp308Ter)
|
|
|
|
NM_000051.4(ATM):c.925A>C (p.Arg309=)
|
rs876659841
|
|
|
NM_000051.4(ATM):c.927A>G (p.Arg309=)
|
rs935834518
|
|
|
NM_000051.4(ATM):c.928A>G (p.Ser310Gly)
|
rs745773225
|
|
|
NM_000051.4(ATM):c.929del (p.Ser310fs)
|
rs1591510597
|
|
|
NM_000051.4(ATM):c.930T>C (p.Ser310=)
|
|
|
|
NM_000051.4(ATM):c.933_951del (p.Leu312fs)
|
|
|
|
NM_000051.4(ATM):c.936A>C (p.Leu312Phe)
|
rs587782257
|
|
|
NM_000051.4(ATM):c.936A>G (p.Leu312=)
|
rs587782257
|
|
|
NM_000051.4(ATM):c.937T>C (p.Tyr313His)
|
|
|
|
NM_000051.4(ATM):c.93G>C (p.Lys31Asn)
|
rs863224583
|
|
|
NM_000051.4(ATM):c.943T>C (p.Leu315=)
|
|
|
|
NM_000051.4(ATM):c.944del (p.Leu315fs)
|
rs1565375035
|
|
|
NM_000051.4(ATM):c.945A>G (p.Leu315=)
|
|
|
|
NM_000051.4(ATM):c.945dup (p.Tyr316fs)
|
rs2135265770
|
|
|
NM_000051.4(ATM):c.947_948del (p.Leu315_Tyr316insTer)
|
rs2135265742
|
|
|
NM_000051.4(ATM):c.951T>C (p.Asp317=)
|
|
|
|
NM_000051.4(ATM):c.954G>A (p.Leu318=)
|
rs1591510739
|
|
|
NM_000051.4(ATM):c.957A>G (p.Leu319=)
|
rs1060501542
|
|
|
NM_000051.4(ATM):c.95G>T (p.Arg32Leu)
|
rs368161489
|
|
|
NM_000051.4(ATM):c.968T>A (p.Ile323Lys)
|
rs2079882407
|
|
|
NM_000051.4(ATM):c.96C>T (p.Arg32=)
|
rs1305090923
|
|
|
NM_000051.4(ATM):c.970dup (p.Ser324fs)
|
|
|
|
NM_000051.4(ATM):c.975T>C (p.His325=)
|
rs746825207
|
|
|
NM_000051.4(ATM):c.975del (p.His325fs)
|
rs2079883068
|
|
|
NM_000051.4(ATM):c.976A>G (p.Ile326Val)
|
rs1555068422
|
|
|
NM_000051.4(ATM):c.977_978del (p.Ile326fs)
|
rs876658832
|
|
|
NM_000051.4(ATM):c.979G>T (p.Gly327Ter)
|
|
|
|
NM_000051.4(ATM):c.982A>G (p.Ser328Gly)
|
rs1555068433
|
|
|
NM_000051.4(ATM):c.984_986del (p.Ser328del)
|
rs876659593
|
|
|
NM_000051.4(ATM):c.986G>A (p.Arg329Lys)
|
rs776938735
|
|
|
NM_000051.4(ATM):c.987A>G (p.Arg329=)
|
rs2079884541
|
|
|
NM_000051.4(ATM):c.988G>T (p.Gly330Ter)
|
|
|
|
NM_000051.4(ATM):c.989G>A (p.Gly330Glu)
|
rs762179829
|
|
|
NM_000051.4(ATM):c.990A>G (p.Gly330=)
|
rs1555068447
|
|
|
NM_000051.4(ATM):c.992del (p.Lys331fs)
|
rs1060501684
|
|
|
NM_000051.4(ATM):c.995_996del (p.Tyr332fs)
|
|
|
|
NM_000051.4(ATM):c.999T>C (p.Ser333=)
|
|
|
|
NM_000051.4(ATM):c.99G>A (p.Leu33=)
|
|
|
|
NM_000051.4(ATM):c.9A>C (p.Leu3=)
|
|
|
|
NM_000051.4(ATM):c.9A>G (p.Leu3=)
|
rs1555053869
|
|
|
NM_000051.4:c.(2838_2839)_(5674_5675)del
|
|
|
|
NM_000051.4:c.5902_5903insSVAelement
|
|
|
|
NM_000051.4:c.919_920insAlu
|
|
|
|
NM_000057.4(BLM):c.3254dup (p.Arg1086fs)
|
|
|
|
NM_000059.3(BRCA2):c.1114_1117delinsCATT (p.Asn372_Gln373delinsHisTer)
|
rs879255323
|
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
|
NM_000059.3(BRCA2):c.3683delinsGG (p.Asn1228fs)
|
rs1555283361
|
|
|
NM_000059.3(BRCA2):c.7508_7521delinsG (p.Val2503fs)
|
rs879255331
|
|
|
NM_000059.3(BRCA2):c.9117+1_9117+2delinsTC
|
rs1566253399
|
|
|
NM_000059.3:c.1-59_1-57delGAA
|
|
|
|
NM_000059.3:c.3847_3848delTG
|
rs80359405
|
|
|
NM_000059.4(BRCA2):c.-152T>C
|
|
|
|
NM_000059.4(BRCA2):c.-33T>C
|
rs397507566
|
|
|
NM_000059.4(BRCA2):c.-39-12_-39-10del
|
rs276174798
|
|
|
NM_000059.4(BRCA2):c.-39-1G>A
|
rs1060499566
|
|
|
NM_000059.4(BRCA2):c.-39-1_-39del
|
rs758732038
|
|
|
NM_000059.4(BRCA2):c.-39-2A>G
|
rs1555280053
|
|
|
NM_000059.4(BRCA2):c.10013C>A (p.Ser3338Ter)
|
rs1593202166
|
|
|
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)
|
rs587782016
|
|
|
NM_000059.4(BRCA2):c.10028A>T (p.Glu3343Val)
|
|
|
|
NM_000059.4(BRCA2):c.10033G>A (p.Ala3345Thr)
|
rs546597661
|
|
|
NM_000059.4(BRCA2):c.10040T>G (p.Ile3347Arg)
|
rs587782373
|
|
|
NM_000059.4(BRCA2):c.10071del (p.Gly3358fs)
|
rs397507567
|
|
|
NM_000059.4(BRCA2):c.10072G>A (p.Gly3358Arg)
|
rs1593202253
|
|
|
NM_000059.4(BRCA2):c.10082A>C (p.Gln3361Pro)
|
rs751250810
|
|
|
NM_000059.4(BRCA2):c.10095C>T (p.Val3365=)
|
rs1060504607
|
|
|
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs)
|
rs276174803
|
|
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
rs80358391
|
|
|
NM_000059.4(BRCA2):c.10131A>C (p.Glu3377Asp)
|
rs1064793835
|
|
|
NM_000059.4(BRCA2):c.1013del (p.Ala338fs)
|
rs2137466855
|
|
|
NM_000059.4(BRCA2):c.10195G>T (p.Ala3399Ser)
|
rs1057521734
|
|
|
NM_000059.4(BRCA2):c.10230C>A (p.Asp3410Glu)
|
rs80358404
|
|
|
NM_000059.4(BRCA2):c.10232C>T (p.Thr3411Ile)
|
rs864622402
|
|
|
NM_000059.4(BRCA2):c.10235T>G (p.Ile3412Ser)
|
rs1057524418
|
|
|
NM_000059.4(BRCA2):c.10248del (p.Lys3416fs)
|
rs776212316
|
|
|
NM_000059.4(BRCA2):c.1029del (p.Lys343fs)
|
rs80359260
|
|
|
NM_000059.4(BRCA2):c.1045A>T (p.Lys349Ter)
|
|
|
|
NM_000059.4(BRCA2):c.1053del (p.Lys351fs)
|
rs886040342
|
|
|
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs)
|
rs80359261
|
|
|
NM_000059.4(BRCA2):c.1057del (p.Ser353fs)
|
rs879255322
|
|
|
NM_000059.4(BRCA2):c.1059del (p.Phe354fs)
|
rs1555281715
|
|
|
NM_000059.4(BRCA2):c.1072del (p.Val358fs)
|
rs2137467384
|
|
|
NM_000059.4(BRCA2):c.1082del (p.Asn361fs)
|
rs397507569
|
|
|
NM_000059.4(BRCA2):c.1103C>A (p.Ser368Ter)
|
rs80358407
|
|
|
NM_000059.4(BRCA2):c.110C>G (p.Ser37Ter)
|
rs886040346
|
|
|
NM_000059.4(BRCA2):c.1110A>G (p.Val370=)
|
rs1566222766
|
|
|
NM_000059.4(BRCA2):c.1117C>A (p.Gln373Lys)
|
|
|
|
NM_000059.4(BRCA2):c.1138del (p.Ser380fs)
|
rs80359264
|
|
|
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)
|
rs431825280
|
|
|
NM_000059.4(BRCA2):c.1147del (p.Ile383fs)
|
rs80359265
|
|
|
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln)
|
rs397507263
|
|
|
NM_000059.4(BRCA2):c.1166C>T (p.Pro389Leu)
|
rs397507263
|
|
|
NM_000059.4(BRCA2):c.1176_1180del (p.Cys393fs)
|
rs397507574
|
|
|
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)
|
rs760815829
|
|
|
NM_000059.4(BRCA2):c.1189_1190insTTAG (p.Gln397fs)
|
rs397515635
|
|
|
NM_000059.4(BRCA2):c.1190_1191insTTAG (p.Gln397delinsHisTer)
|
rs80359266
|
|
|
NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter)
|
rs80358413
|
|
|
NM_000059.4(BRCA2):c.1205del (p.Gly402fs)
|
rs397507265
|
|
|
NM_000059.4(BRCA2):c.121C>T (p.Pro41Ser)
|
rs80358415
|
|
|
NM_000059.4(BRCA2):c.1233A>G (p.Ile411Met)
|
rs1555281784
|
|
|
NM_000059.4(BRCA2):c.1238del (p.Leu413fs)
|
rs80359271
|
|
|
NM_000059.4(BRCA2):c.1241T>A (p.Leu414Ter)
|
rs397507576
|
|
|
NM_000059.4(BRCA2):c.1257del (p.Cys419fs)
|
rs80359272
|
|
|
NM_000059.4(BRCA2):c.1265del (p.Asn422fs)
|
rs80359273
|
|
|
NM_000059.4(BRCA2):c.126T>A (p.Tyr42Ter)
|
rs886040353
|
|
|
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)
|
rs547590567
|
|
|
NM_000059.4(BRCA2):c.1282del (p.Leu428fs)
|
rs2137469532
|
|
|
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)
|
rs80359276
|
|
|
NM_000059.4(BRCA2):c.1300A>C (p.Lys434Gln)
|
rs2137469817
|
|
|
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)
|
rs398122725
|
|
|
NM_000059.4(BRCA2):c.1310_1311del (p.Lys437fs)
|
rs397507578
|
|
|
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)
|
rs80359277
|
|
|
NM_000059.4(BRCA2):c.1313A>T (p.Asp438Val)
|
rs2137470041
|
|
|
NM_000059.4(BRCA2):c.1316_1317dup (p.Leu440fs)
|
rs886040359
|
|
|
NM_000059.4(BRCA2):c.1329del (p.Asn444fs)
|
rs869320781
|
|
|
NM_000059.4(BRCA2):c.1335_1338del (p.Leu446fs)
|
rs397507580
|
|
|
NM_000059.4(BRCA2):c.1337dup (p.Leu446fs)
|
|
|
|
NM_000059.4(BRCA2):c.133G>T (p.Glu45Ter)
|
rs397507581
|
|
|
NM_000059.4(BRCA2):c.1364C>G (p.Ser455Ter)
|
rs2072410817
|
|
|
NM_000059.4(BRCA2):c.1376T>G (p.Leu459Ter)
|
rs587781799
|
|
|
NM_000059.4(BRCA2):c.1378A>C (p.Asn460His)
|
rs1270441968
|
|
|
NM_000059.4(BRCA2):c.137del (p.Pro46fs)
|
rs2072285588
|
|
|
NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs)
|
rs80359283
|
|
|
NM_000059.4(BRCA2):c.1389del (p.Val464fs)
|
rs397507584
|
|
|
NM_000059.4(BRCA2):c.1392_1393insT (p.Val465fs)
|
rs397507585
|
|
|
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)
|
rs80358427
|
|
|
NM_000059.4(BRCA2):c.1404del (p.Asp469fs)
|
rs2137471070
|
|
|
NM_000059.4(BRCA2):c.1405_1406del (p.Arg468_Asp469insTer)
|
rs397507586
|
|
|
NM_000059.4(BRCA2):c.1408dup (p.Glu470fs)
|
rs80359284
|
|
|
NM_000059.4(BRCA2):c.1411G>T (p.Glu471Ter)
|
rs80358428
|
|
|
NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter)
|
rs80358429
|
|
|
NM_000059.4(BRCA2):c.1423G>T (p.Glu475Ter)
|
rs397507587
|
|
|
NM_000059.4(BRCA2):c.142G>A (p.Glu48Lys)
|
rs1555280354
|
|
|
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)
|
rs431825282
|
|
|
NM_000059.4(BRCA2):c.1449_1451delinsTTAC (p.Val484fs)
|
rs397507589
|
|
|
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter)
|
rs80358434
|
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
|
NM_000059.4(BRCA2):c.1478C>T (p.Pro493Leu)
|
rs786202916
|
|
|
NM_000059.4(BRCA2):c.1496A>G (p.Gln499Arg)
|
rs397507590
|
|
|
NM_000059.4(BRCA2):c.1496_1497del (p.Gln499fs)
|
rs80359285
|
|
|
NM_000059.4(BRCA2):c.1501A>G (p.Ile501Val)
|
rs1555281924
|
|
|
NM_000059.4(BRCA2):c.1507A>T (p.Lys503Ter)
|
rs2137472200
|
|
|
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)
|
rs1249900164
|
|
|
NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter)
|
rs80358438
|
|
|
NM_000059.4(BRCA2):c.1560_1561del (p.Ser521fs)
|
rs886040374
|
|
|
NM_000059.4(BRCA2):c.1561del (p.Ser521fs)
|
rs886040374
|
|
|
NM_000059.4(BRCA2):c.1571del (p.Met524fs)
|
|
|
|
NM_000059.4(BRCA2):c.158A>G (p.Lys53Arg)
|
rs397507595
|
|
|
NM_000059.4(BRCA2):c.1594G>A (p.Glu532Lys)
|
rs138734772
|
|
|
NM_000059.4(BRCA2):c.1596_1597del (p.Glu532fs)
|
rs80359292
|
|
|
NM_000059.4(BRCA2):c.15del (p.Glu7fs)
|
rs1064795072
|
|
|
NM_000059.4(BRCA2):c.1612_1613del (p.Ser538fs)
|
rs397507597
|
|
|
NM_000059.4(BRCA2):c.1627C>A (p.His543Asn)
|
rs80358446
|
|
|
NM_000059.4(BRCA2):c.1636del (p.Cys546fs)
|
rs397507598
|
|
|
NM_000059.4(BRCA2):c.1646_1649del (p.Lys549fs)
|
rs397507599
|
|
|
NM_000059.4(BRCA2):c.1654del (p.Ser552fs)
|
rs80359297
|
|
|
NM_000059.4(BRCA2):c.1666A>G (p.Asn556Asp)
|
rs587781794
|
|
|
NM_000059.4(BRCA2):c.1670T>G (p.Leu557Ter)
|
rs80358452
|
|
|
NM_000059.4(BRCA2):c.1672A>G (p.Ile558Val)
|
rs759415233
|
|
|
NM_000059.4(BRCA2):c.1681G>T (p.Gly561Ter)
|
rs80358455
|
|
|
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter)
|
rs80358456
|
|
|
NM_000059.4(BRCA2):c.1705_1706del (p.Gln569fs)
|
rs886040383
|
|
|
NM_000059.4(BRCA2):c.172G>T (p.Glu58Ter)
|
rs397507603
|
|
|
NM_000059.4(BRCA2):c.1732G>C (p.Gly578Arg)
|
rs1555282036
|
|
|
NM_000059.4(BRCA2):c.1733del (p.Gly578fs)
|
rs879255326
|
|
|
NM_000059.4(BRCA2):c.1748T>A (p.Leu583Ter)
|
rs397507604
|
|
|
NM_000059.4(BRCA2):c.1754del (p.Lys585fs)
|
rs80359301
|
|
|
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)
|
rs80359302
|
|
|
NM_000059.4(BRCA2):c.1759_1763del (p.Lys586_Thr587insTer)
|
|
|
|
NM_000059.4(BRCA2):c.1762_1766del (p.Asn588fs)
|
rs80359303
|
|
|
NM_000059.4(BRCA2):c.1763_1766del (p.Asn588fs)
|
rs80359303
|
|
|
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs)
|
rs80359304
|
|
|
NM_000059.4(BRCA2):c.1774del (p.Tyr592fs)
|
rs1566224293
|
|
|
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)
|
rs276174813
|
|
|
NM_000059.4(BRCA2):c.1805del (p.Gly602fs)
|
rs397507608
|
|
|
NM_000059.4(BRCA2):c.1813_1814insC (p.Ile605fs)
|
rs80359308
|
|
|
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)
|
rs80359306
|
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
|
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer)
|
rs587779358
|
|
|
NM_000059.4(BRCA2):c.1821dup (p.Asp608fs)
|
rs879255327
|
|
|
NM_000059.4(BRCA2):c.1831del (p.Ser611fs)
|
rs80359311
|
|
|
NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter)
|
rs80358474
|
|
|
NM_000059.4(BRCA2):c.1842dup (p.Asn615Ter)
|
rs80359312
|
|
|
NM_000059.4(BRCA2):c.1851dup (p.Ala618fs)
|
rs397507610
|
|
|
NM_000059.4(BRCA2):c.1855dup (p.Gln619fs)
|
rs397507611
|
|
|
NM_000059.4(BRCA2):c.1864_1865delinsTA (p.Ala622Ter)
|
rs2072424360
|
|
|
NM_000059.4(BRCA2):c.1875T>A (p.Phe625Leu)
|
rs80358478
|
|
|
NM_000059.4(BRCA2):c.1881del (p.Pro628fs)
|
rs397507612
|
|
|
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs)
|
rs80359314
|
|
|
NM_000059.4(BRCA2):c.1889del (p.Thr630fs)
|
rs80359315
|
|
|
NM_000059.4(BRCA2):c.1901del (p.Ala634fs)
|
rs397507614
|
|
|
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)
|
rs1555282154
|
|
|
NM_000059.4(BRCA2):c.1907C>G (p.Ser636Ter)
|
rs431825288
|
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
|
NM_000059.4(BRCA2):c.1909+2T>A
|
rs876658577
|
|
|
NM_000059.4(BRCA2):c.1909+9_1909+10del
|
rs527732001
|
|
|
NM_000059.4(BRCA2):c.1910-1G>A
|
rs1566225769
|
|
|
NM_000059.4(BRCA2):c.1910-2A>C
|
|
|
|
NM_000059.4(BRCA2):c.191C>T (p.Thr64Ile)
|
rs397507615
|
|
|
NM_000059.4(BRCA2):c.1921del (p.Ser641fs)
|
|
|
|
NM_000059.4(BRCA2):c.1929del (p.Arg645fs)
|
rs80359316
|
|
|
NM_000059.4(BRCA2):c.192_193insATTTT (p.Pro65fs)
|
|
|
|
NM_000059.4(BRCA2):c.1934G>T (p.Arg645Ile)
|
|
|
|
NM_000059.4(BRCA2):c.1942T>A (p.Ser648Thr)
|
rs1593895835
|
|
|
NM_000059.4(BRCA2):c.1943del (p.Ser648fs)
|
rs876658660
|
|
|
NM_000059.4(BRCA2):c.1945C>T (p.Gln649Ter)
|
rs398122735
|
|
|
NM_000059.4(BRCA2):c.1951G>T (p.Asp651Tyr)
|
rs80358482
|
|
|
NM_000059.4(BRCA2):c.2020G>T (p.Glu674Ter)
|
rs879255439
|
|
|
NM_000059.4(BRCA2):c.2024C>G (p.Thr675Arg)
|
rs80358484
|
|
|
NM_000059.4(BRCA2):c.2033_2036del (p.Asn678fs)
|
|
|
|
NM_000059.4(BRCA2):c.2034_2038del (p.Asn679fs)
|
rs879255440
|
|
|
NM_000059.4(BRCA2):c.2039_2043del (p.Thr680fs)
|
|
|
|
NM_000059.4(BRCA2):c.204del (p.Lys68fs)
|
rs80359320
|
|
|
NM_000059.4(BRCA2):c.2059_2063del (p.Leu686_Asp687insTer)
|
rs587782780
|
|
|
NM_000059.4(BRCA2):c.205C>A (p.Pro69Thr)
|
rs876658614
|
|
|
NM_000059.4(BRCA2):c.2091A>C (p.Lys697Asn)
|
rs876659230
|
|
|
NM_000059.4(BRCA2):c.2093_2095del (p.Leu698del)
|
rs1555282435
|
|
|
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter)
|
rs878853559
|
|
|
NM_000059.4(BRCA2):c.2095_2096del (p.Gln699fs)
|
rs886040403
|
|
|
NM_000059.4(BRCA2):c.2099del (p.Leu700fs)
|
|
|
|
NM_000059.4(BRCA2):c.2103_2106del (p.Phe701fs)
|
rs80359324
|
|
|
NM_000059.4(BRCA2):c.2129C>G (p.Ser710Ter)
|
rs886040405
|
|
|
NM_000059.4(BRCA2):c.2133C>A (p.Cys711Ter)
|
rs535547513
|
|
|
NM_000059.4(BRCA2):c.2150del (p.Cys717fs)
|
rs397507618
|
|
|
NM_000059.4(BRCA2):c.2151_2152del (p.Cys717_Glu718delinsTer)
|
rs878853560
|
|
|
NM_000059.4(BRCA2):c.215A>C (p.Asn72Thr)
|
|
|
|
NM_000059.4(BRCA2):c.2175del (p.Val726fs)
|
rs276174819
|
|
|
NM_000059.4(BRCA2):c.2211A>G (p.Ala737=)
|
rs587780647
|
|
|
NM_000059.4(BRCA2):c.2212dup (p.Cys738fs)
|
rs80359325
|
|
|
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)
|
rs80358494
|
|
|
NM_000059.4(BRCA2):c.2231C>G (p.Ser744Ter)
|
rs397507282
|
|
|
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)
|
rs397507282
|
|
|
NM_000059.4(BRCA2):c.2244C>T (p.Tyr748=)
|
rs1555282563
|
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
|
NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val)
|
rs1555282574
|
|
|
NM_000059.4(BRCA2):c.2251dup (p.Thr751fs)
|
rs886040416
|
|
|
NM_000059.4(BRCA2):c.2253_2254del (p.Asp752fs)
|
rs398122744
|
|
|
NM_000059.4(BRCA2):c.226T>C (p.Ser76Pro)
|
rs397507622
|
|
|
NM_000059.4(BRCA2):c.2272del (p.Ser758fs)
|
rs886040420
|
|
|
NM_000059.4(BRCA2):c.2278_2279del (p.Leu760fs)
|
rs886038071
|
|
|
NM_000059.4(BRCA2):c.2279del (p.Leu760fs)
|
rs886038071
|
|
|
NM_000059.4(BRCA2):c.2287del (p.His763fs)
|
rs80359327
|
|
|
NM_000059.4(BRCA2):c.2309_2313del (p.Ile770fs)
|
rs1593896605
|
|
|
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)
|
rs80359328
|
|
|
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)
|
rs587781471
|
|
|
NM_000059.4(BRCA2):c.2357C>G (p.Ser786Cys)
|
rs80358501
|
|
|
NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter)
|
rs398122746
|
|
|
NM_000059.4(BRCA2):c.2372C>A (p.Ser791Ter)
|
rs397507624
|
|
|
NM_000059.4(BRCA2):c.2376C>A (p.Tyr792Ter)
|
rs80358503
|
|
|
NM_000059.4(BRCA2):c.2380dup (p.Met794fs)
|
rs730881602
|
|
|
NM_000059.4(BRCA2):c.238A>C (p.Ile80Leu)
|
|
|
|
NM_000059.4(BRCA2):c.2390del (p.Lys797fs)
|
|
|
|
NM_000059.4(BRCA2):c.2402_2420del (p.Asn801fs)
|
rs886040923
|
|
|
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)
|
rs876661089
|
|
|
NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter)
|
rs80358504
|
|
|
NM_000059.4(BRCA2):c.240A>T (p.Ile80=)
|
rs80358505
|
|
|
NM_000059.4(BRCA2):c.241T>C (p.Phe81Leu)
|
rs80358507
|
|
|
NM_000059.4(BRCA2):c.2426T>G (p.Leu809Ter)
|
rs397507285
|
|
|
NM_000059.4(BRCA2):c.2442del (p.Met815fs)
|
rs397507627
|
|
|
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)
|
rs80358512
|
|
|
NM_000059.4(BRCA2):c.246del (p.Glu83fs)
|
rs397507630
|
|
|
NM_000059.4(BRCA2):c.246dup (p.Glu83fs)
|
rs397507630
|
|
|
NM_000059.4(BRCA2):c.2471T>G (p.Leu824Ter)
|
rs397507631
|
|
|
NM_000059.4(BRCA2):c.2471del (p.Ala823_Leu824insTer)
|
rs886040427
|
|
|
NM_000059.4(BRCA2):c.2480dup (p.Asn827fs)
|
rs397507286
|
|
|
NM_000059.4(BRCA2):c.250C>T (p.Gln84Ter)
|
rs80358515
|
|
|
NM_000059.4(BRCA2):c.2515T>C (p.Tyr839His)
|
rs587778125
|
|
|
NM_000059.4(BRCA2):c.2515dup (p.Tyr839fs)
|
|
|
|
NM_000059.4(BRCA2):c.2517C>A (p.Tyr839Ter)
|
rs80358516
|
|
|
NM_000059.4(BRCA2):c.2517del (p.Lys838_Tyr839insTer)
|
|
|
|
NM_000059.4(BRCA2):c.2537C>G (p.Ser846Ter)
|
rs80358518
|
|
|
NM_000059.4(BRCA2):c.2551_2555del (p.Phe851fs)
|
rs2137487619
|
|
|
NM_000059.4(BRCA2):c.2562C>T (p.Asn854=)
|
rs1555282746
|
|
|
NM_000059.4(BRCA2):c.2563A>G (p.Thr855Ala)
|
rs1174270999
|
|
|
NM_000059.4(BRCA2):c.2564_2565del (p.Thr855fs)
|
rs80359334
|
|
|
NM_000059.4(BRCA2):c.2570dup (p.Arg858fs)
|
rs587782361
|
|
|
NM_000059.4(BRCA2):c.2588del (p.Asn863fs)
|
rs80359335
|
|
|
NM_000059.4(BRCA2):c.2588dup (p.Asn863fs)
|
rs80359335
|
|
|
NM_000059.4(BRCA2):c.2596_2599del (p.Glu866fs)
|
rs397507633
|
|
|
NM_000059.4(BRCA2):c.2598A>G (p.Glu866=)
|
rs587780549
|
|
|
NM_000059.4(BRCA2):c.2603del (p.Thr868fs)
|
rs276174824
|
|
|
NM_000059.4(BRCA2):c.2604T>C (p.Thr868=)
|
rs1428997179
|
|
|
NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter)
|
rs80358523
|
|
|
NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu)
|
rs80358523
|
|
|
NM_000059.4(BRCA2):c.2612delinsTTT (p.Ser871fs)
|
rs397507635
|
|
|
NM_000059.4(BRCA2):c.2618dup (p.Thr874fs)
|
rs398122749
|
|
|
NM_000059.4(BRCA2):c.2623G>C (p.Val875Leu)
|
rs587782582
|
|
|
NM_000059.4(BRCA2):c.2623_2624del (p.Val875fs)
|
rs876658928
|
|
|
NM_000059.4(BRCA2):c.2632G>C (p.Asp878His)
|
rs1593897379
|
|
|
NM_000059.4(BRCA2):c.2637_2638del (p.Glu880fs)
|
rs397507636
|
|
|
NM_000059.4(BRCA2):c.2641G>T (p.Glu881Ter)
|
rs876658648
|
|
|
NM_000059.4(BRCA2):c.2653_2656del (p.Asp885fs)
|
rs80359340
|
|
|
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)
|
rs80358526
|
|
|
NM_000059.4(BRCA2):c.2658_2659del (p.Asn886fs)
|
rs397507291
|
|
|
NM_000059.4(BRCA2):c.2684del (p.Ala895fs)
|
rs80359342
|
|
|
NM_000059.4(BRCA2):c.26del (p.Pro9fs)
|
rs80359343
|
|
|
NM_000059.4(BRCA2):c.2701del (p.Ala902fs)
|
rs397507637
|
|
|
NM_000059.4(BRCA2):c.2743A>T (p.Thr915Ser)
|
|
|
|
NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs)
|
rs786204752
|
|
|
NM_000059.4(BRCA2):c.2758C>T (p.Pro920Ser)
|
rs397507293
|
|
|
NM_000059.4(BRCA2):c.2773dup (p.Ser925fs)
|
rs397507640
|
|
|
NM_000059.4(BRCA2):c.2774_2775del (p.Ser925fs)
|
rs397507641
|
|
|
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val)
|
rs786201837
|
|
|
NM_000059.4(BRCA2):c.2798_2799del (p.Thr933fs)
|
rs80359348
|
|
|
NM_000059.4(BRCA2):c.2801del (p.Gly934fs)
|
rs2137490061
|
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
|
NM_000059.4(BRCA2):c.2808del (p.Lys936fs)
|
rs398122753
|
|
|
NM_000059.4(BRCA2):c.2818C>T (p.Gln940Ter)
|
rs80358532
|
|
|
NM_000059.4(BRCA2):c.2828_2831del (p.Ile943fs)
|
rs397507643
|
|
|
NM_000059.4(BRCA2):c.2833_2834insTT (p.Lys945fs)
|
rs80359355
|
|
|
NM_000059.4(BRCA2):c.2836_2837del (p.Asp946fs)
|
rs80359357
|
|
|
NM_000059.4(BRCA2):c.2836del (p.Asp946fs)
|
rs80359358
|
|
|
NM_000059.4(BRCA2):c.2845del (p.Tyr949fs)
|
rs397507644
|
|
|
NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del)
|
rs80359360
|
|
|
NM_000059.4(BRCA2):c.2870dup (p.Asn957fs)
|
|
|
|
NM_000059.4(BRCA2):c.2872del (p.Ser958fs)
|
|
|
|
NM_000059.4(BRCA2):c.2892A>T (p.Lys964Asn)
|
rs587778119
|
|
|
NM_000059.4(BRCA2):c.2899_2900del (p.Leu967fs)
|
rs80359361
|
|
|
NM_000059.4(BRCA2):c.289G>T (p.Glu97Ter)
|
rs397507646
|
|
|
NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala)
|
rs786203080
|
|
|
NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter)
|
rs397507296
|
|
|
NM_000059.4(BRCA2):c.291_296del (p.Glu97_Leu98del)
|
rs80359362
|
|
|
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile)
|
rs276174831
|
|
|
NM_000059.4(BRCA2):c.2950G>T (p.Glu984Ter)
|
rs397507648
|
|
|
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs)
|
rs80359365
|
|
|
NM_000059.4(BRCA2):c.296A>G (p.Asp99Gly)
|
rs864622276
|
|
|
NM_000059.4(BRCA2):c.2971_2983del (p.Asn991fs)
|
rs886040456
|
|
|
NM_000059.4(BRCA2):c.2973del (p.Asn991fs)
|
|
|
|
NM_000059.4(BRCA2):c.2978G>A (p.Trp993Ter)
|
rs80358543
|
|
|
NM_000059.4(BRCA2):c.2979G>A (p.Trp993Ter)
|
rs80358544
|
|
|
NM_000059.4(BRCA2):c.2990T>A (p.Leu997Ter)
|
rs397507649
|
|
|
NM_000059.4(BRCA2):c.2999T>C (p.Ile1000Thr)
|
rs374769365
|
|
|
NM_000059.4(BRCA2):c.3001dup (p.Ser1001fs)
|
rs886037801
|
|
|
NM_000059.4(BRCA2):c.3003A>T (p.Ser1001=)
|
rs786203591
|
|
|
NM_000059.4(BRCA2):c.3009_3010del (p.His1003fs)
|
rs397507300
|
|
|
NM_000059.4(BRCA2):c.3014_3015dup (p.Gly1006fs)
|
rs397507650
|
|
|
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val)
|
rs1566227648
|
|
|
NM_000059.4(BRCA2):c.305A>G (p.Lys102Arg)
|
rs80358549
|
|
|
NM_000059.4(BRCA2):c.3066dup (p.Asn1023Ter)
|
rs886040458
|
|
|
NM_000059.4(BRCA2):c.3067_3071del (p.His1022_Asn1023insTer)
|
rs80359369
|
|
|
NM_000059.4(BRCA2):c.3071_3073del (p.Ile1024del)
|
rs754836679
|
|
|
NM_000059.4(BRCA2):c.3074del (p.Lys1025fs)
|
rs2137492902
|
|
|
NM_000059.4(BRCA2):c.3075_3076delinsTT (p.Lys1025_Lys1026delinsAsnTer)
|
rs587779362
|
|
|
NM_000059.4(BRCA2):c.3106G>T (p.Glu1036Ter)
|
rs1060502449
|
|
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
rs80358557
|
|
|
NM_000059.4(BRCA2):c.3116CTA[1] (p.Thr1040del)
|
rs1064795908
|
|
|
NM_000059.4(BRCA2):c.3119del (p.Thr1040fs)
|
rs2137493409
|
|
|
NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter)
|
rs80358561
|
|
|
NM_000059.4(BRCA2):c.3157_3163del (p.Leu1053fs)
|
rs1593898717
|
|
|
NM_000059.4(BRCA2):c.316+2T>C
|
rs81002805
|
|
|
NM_000059.4(BRCA2):c.316+4del
|
rs397507656
|
|
|
NM_000059.4(BRCA2):c.316+5G>A
|
rs81002840
|
|
|
NM_000059.4(BRCA2):c.316+5G>C
|
rs81002840
|
|
|
NM_000059.4(BRCA2):c.316+6T>C
|
rs81002900
|
|
|
NM_000059.4(BRCA2):c.3160_3163del (p.Asp1054fs)
|
rs80359371
|
|
|
NM_000059.4(BRCA2):c.3165_3168del (p.Asn1055fs)
|
rs1566227892
|
|
|
NM_000059.4(BRCA2):c.3166C>T (p.Gln1056Ter)
|
rs79728106
|
|
|
NM_000059.4(BRCA2):c.3167_3170del (p.Gln1056fs)
|
rs80359372
|
|
|
NM_000059.4(BRCA2):c.317-8T>C
|
|
|
|
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs)
|
rs80359373
|
|
|
NM_000059.4(BRCA2):c.3187C>T (p.Gln1063Ter)
|
rs876657678
|
|
|
NM_000059.4(BRCA2):c.3189_3192del (p.Ser1064fs)
|
rs80359374
|
|
|
NM_000059.4(BRCA2):c.3191C>A (p.Ser1064Ter)
|
rs864622609
|
|
|
NM_000059.4(BRCA2):c.3195_3198del (p.Asn1066fs)
|
rs80359375
|
|
|
NM_000059.4(BRCA2):c.3197A>G (p.Asn1066Ser)
|
rs762752733
|
|
|
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs)
|
rs80359377
|
|
|
NM_000059.4(BRCA2):c.320G>C (p.Arg107Thr)
|
rs1172322930
|
|
|
NM_000059.4(BRCA2):c.3215dup (p.Leu1072fs)
|
rs2072475243
|
|
|
NM_000059.4(BRCA2):c.3222dup (p.Ser1075Ter)
|
|
|
|
NM_000059.4(BRCA2):c.3233T>G (p.Val1078Gly)
|
rs1270386176
|
|
|
NM_000059.4(BRCA2):c.3235del (p.Ser1079fs)
|
rs397507660
|
|
|
NM_000059.4(BRCA2):c.3249T>C (p.Asn1083=)
|
rs876659029
|
|
|
NM_000059.4(BRCA2):c.3253C>T (p.His1085Tyr)
|
rs2137494760
|
|
|
NM_000059.4(BRCA2):c.3257_3258del (p.Ile1086fs)
|
rs876658618
|
|
|
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter)
|
rs80358573
|
|
|
NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs)
|
rs80359382
|
|
|
NM_000059.4(BRCA2):c.3280A>T (p.Lys1094Ter)
|
rs690016539
|
|
|
NM_000059.4(BRCA2):c.3291dup (p.Asn1098Ter)
|
rs690016540
|
|
|
NM_000059.4(BRCA2):c.3292A>T (p.Asn1098Tyr)
|
rs2137495145
|
|
|
NM_000059.4(BRCA2):c.3293del (p.Asn1098fs)
|
rs690016541
|
|
|
NM_000059.4(BRCA2):c.3296C>G (p.Ser1099Ter)
|
rs397507663
|
|
|
NM_000059.4(BRCA2):c.32T>G (p.Phe11Cys)
|
rs2138698291
|
|
|
NM_000059.4(BRCA2):c.3308T>G (p.Leu1103Ter)
|
rs397507305
|
|
|
NM_000059.4(BRCA2):c.3308del (p.Asn1102_Leu1103insTer)
|
rs1555283160
|
|
|
NM_000059.4(BRCA2):c.334_335dup (p.Ser112fs)
|
|
|
|
NM_000059.4(BRCA2):c.3362C>G (p.Ser1121Ter)
|
rs80358579
|
|
|
NM_000059.4(BRCA2):c.3366_3367del (p.Gln1124fs)
|
rs397507665
|
|
|
NM_000059.4(BRCA2):c.3375del (p.Phe1125fs)
|
|
|
|
NM_000059.4(BRCA2):c.3409T>C (p.Leu1137=)
|
rs1054724641
|
|
|
NM_000059.4(BRCA2):c.340C>T (p.His114Tyr)
|
rs587778129
|
|
|
NM_000059.4(BRCA2):c.3449_3450insAG (p.Ile1151fs)
|
rs1555283246
|
|
|
NM_000059.4(BRCA2):c.3451_3452del (p.Ile1151fs)
|
rs886040475
|
|
|
NM_000059.4(BRCA2):c.3451_3454del (p.Thr1150_Ile1151insTer)
|
rs2137496671
|
|
|
NM_000059.4(BRCA2):c.3453del (p.Ile1151_Leu1152insTer)
|
rs397507670
|
|
|
NM_000059.4(BRCA2):c.3454_3455del (p.Leu1152fs)
|
rs1555283251
|
|
|
NM_000059.4(BRCA2):c.3455T>A (p.Leu1152Ter)
|
rs80358593
|
|
|
NM_000059.4(BRCA2):c.3455T>G (p.Leu1152Ter)
|
rs80358593
|
|
|
NM_000059.4(BRCA2):c.3462del (p.Thr1155fs)
|
rs1555283256
|
|
|
NM_000059.4(BRCA2):c.3481_3491del (p.Asp1161fs)
|
rs1555283262
|
|
|
NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp)
|
rs762886975
|
|
|
NM_000059.4(BRCA2):c.3500_3501del (p.Ile1167fs)
|
rs80359387
|
|
|
NM_000059.4(BRCA2):c.3503T>C (p.Met1168Thr)
|
rs80358598
|
|
|
NM_000059.4(BRCA2):c.3521G>A (p.Gly1174Asp)
|
rs1555283272
|
|
|
NM_000059.4(BRCA2):c.3524A>G (p.Gln1175Arg)
|
|
|
|
NM_000059.4(BRCA2):c.3530_3533del (p.Asp1177fs)
|
rs886040481
|
|
|
NM_000059.4(BRCA2):c.3531_3534del (p.Asp1177fs)
|
rs397507673
|
|
|
NM_000059.4(BRCA2):c.3536G>A (p.Ser1179Asn)
|
rs397507674
|
|
|
NM_000059.4(BRCA2):c.3540G>C (p.Lys1180Asn)
|
rs864622363
|
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
|
NM_000059.4(BRCA2):c.3556G>A (p.Val1186Ile)
|
rs587782420
|
|
|
NM_000059.4(BRCA2):c.3556_3565del (p.Val1186fs)
|
rs397507676
|
|
|
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)
|
rs80359391
|
|
|
NM_000059.4(BRCA2):c.3613_3615del (p.Ser1205del)
|
rs1593899992
|
|
|
NM_000059.4(BRCA2):c.362A>T (p.Lys121Ile)
|
|
|
|
NM_000059.4(BRCA2):c.3630T>C (p.Asp1210=)
|
rs786202991
|
|
|
NM_000059.4(BRCA2):c.3631G>T (p.Glu1211Ter)
|
rs886040486
|
|
|
NM_000059.4(BRCA2):c.3634_3639del (p.Asn1212_Glu1213del)
|
rs774186567
|
|
|
NM_000059.4(BRCA2):c.3641_3642insA (p.Phe1216fs)
|
rs2137498577
|
|
|
NM_000059.4(BRCA2):c.3641del (p.Val1214fs)
|
rs690016542
|
|
|
NM_000059.4(BRCA2):c.3641dup (p.Phe1216fs)
|
rs397507678
|
|
|
NM_000059.4(BRCA2):c.364A>G (p.Thr122Ala)
|
rs1218108009
|
|
|
NM_000059.4(BRCA2):c.364del (p.Thr122fs)
|
rs397507680
|
|
|
NM_000059.4(BRCA2):c.3656T>C (p.Phe1219Ser)
|
rs1555283341
|
|
|
NM_000059.4(BRCA2):c.3689_3690del (p.Ser1230fs)
|
rs869312759
|
|
|
NM_000059.4(BRCA2):c.3689del (p.Ser1230fs)
|
rs80359398
|
|
|
NM_000059.4(BRCA2):c.36del (p.Phe12fs)
|
rs80359393
|
|
|
NM_000059.4(BRCA2):c.3704A>C (p.Gln1235Pro)
|
|
|
|
NM_000059.4(BRCA2):c.3708dup (p.Ala1237fs)
|
rs34575057
|
|
|
NM_000059.4(BRCA2):c.3716_3717del (p.Lys1239fs)
|
rs80359401
|
|
|
NM_000059.4(BRCA2):c.3717del (p.Lys1239fs)
|
rs80359401
|
|
|
NM_000059.4(BRCA2):c.3720_3721del (p.Leu1240_Phe1241insTer)
|
rs1555283373
|
|
|
NM_000059.4(BRCA2):c.3722_3723insA (p.Phe1241fs)
|
|
|
|
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs)
|
rs886040494
|
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
|
NM_000059.4(BRCA2):c.3748del (p.Glu1250fs)
|
|
|
|
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)
|
rs397507683
|
|
|
NM_000059.4(BRCA2):c.3762G>T (p.Glu1254Asp)
|
rs777028631
|
|
|
NM_000059.4(BRCA2):c.3767A>G (p.His1256Arg)
|
rs80358618
|
|
|
NM_000059.4(BRCA2):c.3772del (p.Pro1257_Ile1258insTer)
|
rs397507684
|
|
|
NM_000059.4(BRCA2):c.3773_3774del (p.Ile1258fs)
|
rs397507685
|
|
|
NM_000059.4(BRCA2):c.3795T>A (p.Cys1265Ter)
|
|
|
|
NM_000059.4(BRCA2):c.37G>A (p.Glu13Lys)
|
rs80358622
|
|
|
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile)
|
rs876658938
|
|
|
NM_000059.4(BRCA2):c.3812C>A (p.Ser1271Ter)
|
rs80358623
|
|
|
NM_000059.4(BRCA2):c.3812C>G (p.Ser1271Ter)
|
rs80358623
|
|
|
NM_000059.4(BRCA2):c.3830del (p.Asn1277fs)
|
rs397507689
|
|
|
NM_000059.4(BRCA2):c.3836A>G (p.Asn1279Ser)
|
rs1060502384
|
|
|
NM_000059.4(BRCA2):c.3837del (p.Asn1279fs)
|
rs80359404
|
|
|
NM_000059.4(BRCA2):c.383A>G (p.Asp128Gly)
|
rs80358627
|
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
|
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)
|
rs80359406
|
|
|
NM_000059.4(BRCA2):c.3860dup (p.Asn1287fs)
|
rs80359406
|
|
|
NM_000059.4(BRCA2):c.3863dup (p.Asn1288fs)
|
rs397507693
|
|
|
NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs)
|
rs80359412
|
|
|
NM_000059.4(BRCA2):c.3873del (p.Gln1291fs)
|
rs398122772
|
|
|
NM_000059.4(BRCA2):c.388G>A (p.Val130Ile)
|
rs1566218197
|
|
|
NM_000059.4(BRCA2):c.3895_3897del (p.Glu1299del)
|
rs397507696
|
|
|
NM_000059.4(BRCA2):c.3902C>G (p.Thr1301Ser)
|
rs1455648880
|
|
|
NM_000059.4(BRCA2):c.3902C>T (p.Thr1301Ile)
|
rs1455648880
|
|
|
NM_000059.4(BRCA2):c.3923A>C (p.Glu1308Ala)
|
rs2137501297
|
|
|
NM_000059.4(BRCA2):c.3929del (p.Thr1310fs)
|
rs397507699
|
|
|
NM_000059.4(BRCA2):c.3933_3943del (p.Asn1312fs)
|
rs1555283478
|
|
|
NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser)
|
rs398122773
|
|
|
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)
|
rs397515636
|
|
|
NM_000059.4(BRCA2):c.397C>A (p.Pro133Thr)
|
rs571823764
|
|
|
NM_000059.4(BRCA2):c.3994C>G (p.His1332Asp)
|
rs863224588
|
|
|
NM_000059.4(BRCA2):c.3998_4002del (p.Asn1333fs)
|
rs2137501910
|
|
|
NM_000059.4(BRCA2):c.3del (p.Met1fs)
|
rs80359418
|
|
|
NM_000059.4(BRCA2):c.4021T>C (p.Ser1341Pro)
|
rs2137502159
|
|
|
NM_000059.4(BRCA2):c.4028A>G (p.Lys1343Arg)
|
|
|
|
NM_000059.4(BRCA2):c.4030_4035delinsC (p.Asn1344fs)
|
rs886040509
|
|
|
NM_000059.4(BRCA2):c.4037C>A (p.Thr1346Asn)
|
rs1555283519
|
|
|
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs)
|
rs80359421
|
|
|
NM_000059.4(BRCA2):c.4037_4043delinsT (p.Thr1346_Cys1348delinsIle)
|
rs276174841
|
|
|
NM_000059.4(BRCA2):c.4042del (p.Cys1348fs)
|
rs886037800
|
|
|
NM_000059.4(BRCA2):c.4058_4062del (p.Glu1353fs)
|
rs397507322
|
|
|
NM_000059.4(BRCA2):c.4059A>C (p.Glu1353Asp)
|
|
|
|
NM_000059.4(BRCA2):c.4068_4086dup (p.Asn1363delinsAlaIleTyrTer)
|
|
|
|
NM_000059.4(BRCA2):c.407del (p.Asn136fs)
|
rs80359425
|
|
|
NM_000059.4(BRCA2):c.4085A>G (p.His1362Arg)
|
rs1060502441
|
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
|
NM_000059.4(BRCA2):c.4095T>A (p.Cys1365Ter)
|
rs80358658
|
|
|
NM_000059.4(BRCA2):c.4097_4098insCATC (p.Lys1367fs)
|
rs397507704
|
|
|
NM_000059.4(BRCA2):c.4101dup (p.Leu1368fs)
|
rs397507705
|
|
|
NM_000059.4(BRCA2):c.410C>T (p.Ser137Phe)
|
|
|
|
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)
|
rs80358659
|
|
|
NM_000059.4(BRCA2):c.4117dup (p.Met1373fs)
|
rs1555283571
|
|
|
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs)
|
rs397507323
|
|
|
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)
|
rs80359429
|
|
|
NM_000059.4(BRCA2):c.4133_4136del (p.Thr1378fs)
|
rs80359430
|
|
|
NM_000059.4(BRCA2):c.4135C>T (p.Gln1379Ter)
|
rs2072497088
|
|
|
NM_000059.4(BRCA2):c.4136dup (p.Ile1380fs)
|
rs397507708
|
|
|
NM_000059.4(BRCA2):c.4139_4140dup (p.Lys1381fs)
|
rs276174842
|
|
|
NM_000059.4(BRCA2):c.4141_4143del (p.Lys1381del)
|
rs587782157
|
|
|
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)
|
rs80359432
|
|
|
NM_000059.4(BRCA2):c.414T>A (p.Cys138Ter)
|
rs1555280869
|
|
|
NM_000059.4(BRCA2):c.4154C>G (p.Ser1385Ter)
|
rs886038101
|
|
|
NM_000059.4(BRCA2):c.4163_4164delinsA (p.Thr1388fs)
|
rs276174843
|
|
|
NM_000059.4(BRCA2):c.41T>A (p.Ile14Asn)
|
rs1241704385
|
|
|
NM_000059.4(BRCA2):c.4211C>G (p.Ser1404Ter)
|
rs41293489
|
|
|
NM_000059.4(BRCA2):c.4211del (p.Thr1403_Ser1404insTer)
|
rs398122777
|
|
|
NM_000059.4(BRCA2):c.4218_4221del (p.Lys1406fs)
|
rs80359435
|
|
|
NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter)
|
rs80358663
|
|
|
NM_000059.4(BRCA2):c.4223del (p.Gln1408fs)
|
rs397507712
|
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
|
NM_000059.4(BRCA2):c.425+2T>C
|
rs876661045
|
|
|
NM_000059.4(BRCA2):c.425+3A>G
|
rs932657676
|
|
|
NM_000059.4(BRCA2):c.4257del (p.Asp1420fs)
|
rs1566229958
|
|
|
NM_000059.4(BRCA2):c.426-2A>G
|
rs398122779
|
|
|
NM_000059.4(BRCA2):c.4269T>G (p.Thr1423=)
|
rs786201377
|
|
|
NM_000059.4(BRCA2):c.4276dup (p.Thr1426fs)
|
rs80359438
|
|
|
NM_000059.4(BRCA2):c.4277del (p.Thr1426fs)
|
rs730881608
|
|
|
NM_000059.4(BRCA2):c.4278A>G (p.Thr1426=)
|
rs1555283682
|
|
|
NM_000059.4(BRCA2):c.4284del (p.Gln1429fs)
|
rs80359439
|
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
|
NM_000059.4(BRCA2):c.4285C>T (p.Gln1429Ter)
|
rs80358665
|
|
|
NM_000059.4(BRCA2):c.4299G>A (p.Gly1433=)
|
rs1555283699
|
|
|
NM_000059.4(BRCA2):c.4305_4309del (p.Asn1435fs)
|
rs1566230041
|
|
|
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr)
|
rs1403318277
|
|
|
NM_000059.4(BRCA2):c.4321G>T (p.Glu1441Ter)
|
rs876659758
|
|
|
NM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter)
|
rs80358670
|
|
|
NM_000059.4(BRCA2):c.4342_4343del (p.Asn1448fs)
|
|
|
|
NM_000059.4(BRCA2):c.4363G>T (p.Glu1455Ter)
|
rs1566230144
|
|
|
NM_000059.4(BRCA2):c.4366G>T (p.Glu1456Ter)
|
rs876659847
|
|
|
NM_000059.4(BRCA2):c.4376dup (p.Asn1459fs)
|
rs1555283752
|
|
|
NM_000059.4(BRCA2):c.437T>C (p.Leu146Pro)
|
rs539929888
|
|
|
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile)
|
rs1555283763
|
|
|
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs)
|
rs80359444
|
|
|
NM_000059.4(BRCA2):c.439C>T (p.Gln147Ter)
|
rs397507717
|
|
|
NM_000059.4(BRCA2):c.4405_4409del (p.Asp1469fs)
|
rs397507331
|
|
|
NM_000059.4(BRCA2):c.4409_4413del (p.Ile1470fs)
|
rs397507718
|
|
|
NM_000059.4(BRCA2):c.440A>T (p.Gln147Leu)
|
rs80358674
|
|
|
NM_000059.4(BRCA2):c.4412_4414del (p.Arg1471del)
|
rs886039317
|
|
|
NM_000059.4(BRCA2):c.4414A>G (p.Lys1472Glu)
|
rs757821270
|
|
|
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs)
|
rs397507333
|
|
|
NM_000059.4(BRCA2):c.4417_4418del (p.Asn1473fs)
|
rs1593902312
|
|
|
NM_000059.4(BRCA2):c.4430T>C (p.Ile1477Thr)
|
rs1555283775
|
|
|
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs)
|
rs80359448
|
|
|
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs)
|
rs397507720
|
|
|
NM_000059.4(BRCA2):c.4470dup (p.Leu1491fs)
|
rs397507334
|
|
|
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs)
|
rs80359451
|
|
|
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)
|
rs80359454
|
|
|
NM_000059.4(BRCA2):c.4489G>T (p.Val1497Phe)
|
rs1271777808
|
|
|
NM_000059.4(BRCA2):c.44_45insATT (p.Ile14_Phe15insLeu)
|
rs80359445
|
|
|
NM_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs)
|
rs863224827
|
|
|
NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter)
|
rs80358683
|
|
|
NM_000059.4(BRCA2):c.4536_4539dup (p.Glu1514Ter)
|
rs397507724
|
|
|
NM_000059.4(BRCA2):c.4544del (p.Lys1515fs)
|
rs397507725
|
|
|
NM_000059.4(BRCA2):c.4544dup (p.Ile1516fs)
|
rs397507725
|
|
|
NM_000059.4(BRCA2):c.4548_4549del (p.Lys1517fs)
|
rs1064793413
|
|
|
NM_000059.4(BRCA2):c.454A>G (p.Thr152Ala)
|
rs886037806
|
|
|
NM_000059.4(BRCA2):c.4551_4554del (p.Lys1517fs)
|
rs80359457
|
|
|
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs)
|
rs80359458
|
|
|
NM_000059.4(BRCA2):c.4566G>T (p.Leu1522Phe)
|
rs397507729
|
|
|
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs)
|
rs1057517565
|
|
|
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)
|
rs397507336
|
|
|
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter)
|
rs80358692
|
|
|
NM_000059.4(BRCA2):c.4593del (p.Val1532fs)
|
rs397507731
|
|
|
NM_000059.4(BRCA2):c.4593dup (p.Val1532fs)
|
rs397507731
|
|
|
NM_000059.4(BRCA2):c.4615_4616del (p.Leu1539fs)
|
rs869320783
|
|
|
NM_000059.4(BRCA2):c.4619_4623del (p.Asp1540fs)
|
rs869320793
|
|
|
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)
|
rs80359459
|
|
|
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)
|
rs80359460
|
|
|
NM_000059.4(BRCA2):c.4631dup (p.Asn1544fs)
|
rs80359460
|
|
|
NM_000059.4(BRCA2):c.4633del (p.Leu1545fs)
|
rs876658654
|
|
|
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs)
|
rs80359462
|
|
|
NM_000059.4(BRCA2):c.4644A>C (p.Glu1548Asp)
|
|
|
|
NM_000059.4(BRCA2):c.4647_4650del (p.Lys1549fs)
|
rs397507734
|
|
|
NM_000059.4(BRCA2):c.464G>A (p.Arg155Lys)
|
rs377639990
|
|
|
NM_000059.4(BRCA2):c.464_468del (p.Arg155fs)
|
rs397507735
|
|
|
NM_000059.4(BRCA2):c.4651C>T (p.Gln1551Ter)
|
rs876661062
|
|
|
NM_000059.4(BRCA2):c.466_467insT (p.Asp156fs)
|
rs397507736
|
|
|
NM_000059.4(BRCA2):c.4677del (p.Phe1559fs)
|
rs1064794708
|
|
|
NM_000059.4(BRCA2):c.4679G>A (p.Ser1560Asn)
|
rs2137508985
|
|
|
NM_000059.4(BRCA2):c.4684C>T (p.Gln1562Ter)
|
rs397507737
|
|
|
NM_000059.4(BRCA2):c.4688G>A (p.Trp1563Ter)
|
|
|
|
NM_000059.4(BRCA2):c.4694del (p.Lys1565fs)
|
rs1593903166
|
|
|
NM_000059.4(BRCA2):c.4695_4698dup (p.Leu1567fs)
|
rs397507738
|
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
|
NM_000059.4(BRCA2):c.4712A>T (p.Glu1571Val)
|
rs766833528
|
|
|
NM_000059.4(BRCA2):c.4712_4713del (p.Glu1571fs)
|
rs80359464
|
|
|
NM_000059.4(BRCA2):c.4731dup (p.Leu1578fs)
|
rs397507740
|
|
|
NM_000059.4(BRCA2):c.473C>T (p.Ser158Leu)
|
rs80358701
|
|
|
NM_000059.4(BRCA2):c.4740_4741dup (p.Glu1581fs)
|
rs864622401
|
|
|
NM_000059.4(BRCA2):c.475+1G>T
|
rs81002797
|
|
|
NM_000059.4(BRCA2):c.475+4T>C
|
rs746963311
|
|
|
NM_000059.4(BRCA2):c.475+5G>A
|
rs730881504
|
|
|
NM_000059.4(BRCA2):c.475G>A (p.Val159Met)
|
rs80358702
|
|
|
NM_000059.4(BRCA2):c.476-2A>G
|
rs81002853
|
|
|
NM_000059.4(BRCA2):c.476-3C>T
|
rs371431745
|
|
|
NM_000059.4(BRCA2):c.476-4_476-1delinsT
|
rs587782880
|
|
|
NM_000059.4(BRCA2):c.4764C>T (p.Ala1588=)
|
rs2137509962
|
|
|
NM_000059.4(BRCA2):c.4769del (p.Lys1590fs)
|
rs879255328
|
|
|
NM_000059.4(BRCA2):c.4790del (p.Ser1597fs)
|
rs2137510249
|
|
|
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs)
|
rs2137510225
|
|
|
NM_000059.4(BRCA2):c.4794C>G (p.Leu1598=)
|
rs1294850148
|
|
|
NM_000059.4(BRCA2):c.4795AAT[1] (p.Asn1600del)
|
rs276174851
|
|
|
NM_000059.4(BRCA2):c.4808dup (p.Asn1603fs)
|
rs80359466
|
|
|
NM_000059.4(BRCA2):c.4821_4823delinsC (p.Glu1608fs)
|
rs587782854
|
|
|
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)
|
rs876659201
|
|
|
NM_000059.4(BRCA2):c.4829_4830del (p.Val1610fs)
|
rs80359468
|
|
|
NM_000059.4(BRCA2):c.483T>G (p.Cys161Trp)
|
rs397507745
|
|
|
NM_000059.4(BRCA2):c.4848_4849del (p.Leu1616_Ser1617insTer)
|
rs397507746
|
|
|
NM_000059.4(BRCA2):c.4851dup (p.Asp1618Ter)
|
|
|
|
NM_000059.4(BRCA2):c.4860A>G (p.Leu1620=)
|
rs976841328
|
|
|
NM_000059.4(BRCA2):c.4867C>T (p.Gln1623Ter)
|
|
|
|
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs)
|
rs80359470
|
|
|
NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter)
|
rs80358711
|
|
|
NM_000059.4(BRCA2):c.488_489del (p.Ser163fs)
|
rs397507747
|
|
|
NM_000059.4(BRCA2):c.4900T>A (p.Phe1634Ile)
|
rs1555283982
|
|
|
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)
|
rs786203494
|
|
|
NM_000059.4(BRCA2):c.4917del (p.His1640fs)
|
rs397507749
|
|
|
NM_000059.4(BRCA2):c.4926_4935del (p.Asn1642fs)
|
rs397507750
|
|
|
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala)
|
rs28897731
|
|
|
NM_000059.4(BRCA2):c.4936_4937del (p.Glu1646fs)
|
rs431825323
|
|
|
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)
|
rs80359473
|
|
|
NM_000059.4(BRCA2):c.4947_4948del (p.Pro1651fs)
|
rs80359474
|
|
|
NM_000059.4(BRCA2):c.4957A>G (p.Thr1653Ala)
|
rs587782186
|
|
|
NM_000059.4(BRCA2):c.4964dup (p.Tyr1655Ter)
|
rs398122789
|
|
|
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter)
|
rs80358721
|
|
|
NM_000059.4(BRCA2):c.4979del (p.Pro1660fs)
|
|
|
|
NM_000059.4(BRCA2):c.4985C>G (p.Ser1662Ter)
|
rs886040559
|
|
|
NM_000059.4(BRCA2):c.4987_4990del (p.Val1663fs)
|
rs397507753
|
|
|
NM_000059.4(BRCA2):c.4999dup (p.Ser1667fs)
|
rs397507754
|
|
|
NM_000059.4(BRCA2):c.5006T>G (p.Leu1669Ter)
|
rs1555284032
|
|
|
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=)
|
rs370591460
|
|
|
NM_000059.4(BRCA2):c.502C>G (p.Pro168Ala)
|
rs80358726
|
|
|
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs)
|
rs80359477
|
|
|
NM_000059.4(BRCA2):c.5042_5043del (p.Val1681fs)
|
rs80359478
|
|
|
NM_000059.4(BRCA2):c.5045del (p.Ser1682fs)
|
rs397507756
|
|
|
NM_000059.4(BRCA2):c.5047C>T (p.Gln1683Ter)
|
rs1555284044
|
|
|
NM_000059.4(BRCA2):c.5049_5050insT (p.Thr1684fs)
|
rs1593904263
|
|
|
NM_000059.4(BRCA2):c.5061del (p.Glu1688fs)
|
rs2137513583
|
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
|
NM_000059.4(BRCA2):c.5081G>A (p.Arg1694Lys)
|
rs753721331
|
|
|
NM_000059.4(BRCA2):c.5083G>T (p.Glu1695Ter)
|
rs938190132
|
|
|
NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter)
|
rs397507758
|
|
|
NM_000059.4(BRCA2):c.5115_5119del (p.Asn1706fs)
|
rs397507759
|
|
|
NM_000059.4(BRCA2):c.5116_5119del (p.Asn1706fs)
|
rs276174853
|
|
|
NM_000059.4(BRCA2):c.5120del (p.Thr1707fs)
|
rs886039318
|
|
|
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer)
|
rs80359484
|
|
|
NM_000059.4(BRCA2):c.5131del (p.Tyr1710_Val1711insTer)
|
rs397507760
|
|
|
NM_000059.4(BRCA2):c.5142T>G (p.Tyr1714Ter)
|
rs2072521352
|
|
|
NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs)
|
rs276174854
|
|
|
NM_000059.4(BRCA2):c.5154_5158del (p.Asn1719fs)
|
rs886040570
|
|
|
NM_000059.4(BRCA2):c.5158dup (p.Ser1720fs)
|
rs80359489
|
|
|
NM_000059.4(BRCA2):c.516+1dup
|
rs397507763
|
|
|
NM_000059.4(BRCA2):c.5164_5168dup (p.Ile1724fs)
|
rs397507765
|
|
|
NM_000059.4(BRCA2):c.5165G>C (p.Ser1722Thr)
|
rs773707172
|
|
|
NM_000059.4(BRCA2):c.516G>A (p.Lys172=)
|
rs80359790
|
|
|
NM_000059.4(BRCA2):c.517-1G>A
|
rs81002849
|
|
|
NM_000059.4(BRCA2):c.517-2A>G
|
rs81002858
|
|
|
NM_000059.4(BRCA2):c.517-2_631+1del
|
rs2137451892
|
|
|
NM_000059.4(BRCA2):c.5171T>C (p.Ile1724Thr)
|
rs80358743
|
|
|
NM_000059.4(BRCA2):c.5171del (p.Ile1724fs)
|
rs397507767
|
|
|
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg)
|
rs397507768
|
|
|
NM_000059.4(BRCA2):c.518del (p.Gly173Valfs)
|
rs80359492
|
|
|
NM_000059.4(BRCA2):c.5195del (p.Leu1732fs)
|
rs587779363
|
|
|
NM_000059.4(BRCA2):c.51_52del (p.Arg18fs)
|
rs80359483
|
|
|
NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs)
|
rs1555284103
|
|
|
NM_000059.4(BRCA2):c.520C>T (p.Arg174Cys)
|
rs41293469
|
|
|
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)
|
rs80359493
|
|
|
NM_000059.4(BRCA2):c.5216dup (p.Tyr1739Ter)
|
rs886040578
|
|
|
NM_000059.4(BRCA2):c.5217_5220del (p.Thr1738_Tyr1739insTer)
|
rs80359494
|
|
|
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer)
|
rs80359496
|
|
|
NM_000059.4(BRCA2):c.5217_5224del
|
rs80359497
|
|
|
NM_000059.4(BRCA2):c.5218_5223del (p.Leu1740_Ser1741del)
|
rs397507775
|
|
|
NM_000059.4(BRCA2):c.5219T>G (p.Leu1740Ter)
|
rs1593904834
|
|
|
NM_000059.4(BRCA2):c.5222_5225del (p.Ser1741fs)
|
rs80359498
|
|
|
NM_000059.4(BRCA2):c.5223dup (p.Asn1742Ter)
|
rs1555284120
|
|
|
NM_000059.4(BRCA2):c.5225_5230del (p.Asn1742_Ser1743del)
|
rs276174855
|
|
|
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del)
|
rs397507349
|
|
|
NM_000059.4(BRCA2):c.522del (p.Gln175fs)
|
rs1060502465
|
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
|
NM_000059.4(BRCA2):c.5242del (p.Ser1748fs)
|
rs2137515525
|
|
|
NM_000059.4(BRCA2):c.5250del (p.Tyr1751fs)
|
rs397507776
|
|
|
NM_000059.4(BRCA2):c.5270_5286del (p.Tyr1757fs)
|
rs80359502
|
|
|
NM_000059.4(BRCA2):c.5272_5274del (p.Asn1758del)
|
rs587780655
|
|
|
NM_000059.4(BRCA2):c.5279C>G (p.Ser1760Ter)
|
rs80358751
|
|
|
NM_000059.4(BRCA2):c.5279del (p.Asp1759_Ser1760insTer)
|
rs2137515902
|
|
|
NM_000059.4(BRCA2):c.5286_5300del (p.Tyr1762_Lys1767delinsTer)
|
|
|
|
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)
|
rs80359503
|
|
|
NM_000059.4(BRCA2):c.5291C>G (p.Ser1764Ter)
|
rs397507778
|
|
|
NM_000059.4(BRCA2):c.5297del (p.Asn1766fs)
|
rs1555284157
|
|
|
NM_000059.4(BRCA2):c.5298T>A (p.Asn1766Lys)
|
rs276174856
|
|
|
NM_000059.4(BRCA2):c.5328GAA[1] (p.Lys1777del)
|
rs398122529
|
|
|
NM_000059.4(BRCA2):c.5334T>A (p.Asn1778Lys)
|
rs1566232224
|
|
|
NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter)
|
rs80358757
|
|
|
NM_000059.4(BRCA2):c.5347A>G (p.Lys1783Glu)
|
rs1555284184
|
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
|
NM_000059.4(BRCA2):c.5351del (p.Asn1784fs)
|
rs80359507
|
|
|
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)
|
rs80359507
|
|
|
NM_000059.4(BRCA2):c.5362del (p.Ser1788fs)
|
rs587781849
|
|
|
NM_000059.4(BRCA2):c.5364dup (p.Lys1789fs)
|
rs587779364
|
|
|
NM_000059.4(BRCA2):c.5386G>T (p.Asp1796Tyr)
|
rs1064793715
|
|
|
NM_000059.4(BRCA2):c.5386_5387del (p.Asp1796fs)
|
rs587782598
|
|
|
NM_000059.4(BRCA2):c.5389_5390del (p.Ala1797fs)
|
rs397507783
|
|
|
NM_000059.4(BRCA2):c.538A>G (p.Ile180Val)
|
rs1555281048
|
|
|
NM_000059.4(BRCA2):c.538A>T (p.Ile180Phe)
|
rs1555281048
|
|
|
NM_000059.4(BRCA2):c.538_539dup (p.Ser181fs)
|
rs80359510
|
|
|
NM_000059.4(BRCA2):c.539T>C (p.Ile180Thr)
|
rs80358761
|
|
|
NM_000059.4(BRCA2):c.5404C>T (p.Gln1802Ter)
|
rs80358763
|
|
|
NM_000059.4(BRCA2):c.5410_5411del (p.Val1804fs)
|
rs80359512
|
|
|
NM_000059.4(BRCA2):c.5413A>G (p.Asn1805Asp)
|
rs1555284211
|
|
|
NM_000059.4(BRCA2):c.5433_5436del (p.Glu1811fs)
|
rs397507784
|
|
|
NM_000059.4(BRCA2):c.5465dup (p.Asn1822fs)
|
rs1555284237
|
|
|
NM_000059.4(BRCA2):c.5467A>T (p.Lys1823Ter)
|
rs276174858
|
|
|
NM_000059.4(BRCA2):c.5471dup (p.Asn1824fs)
|
rs80359515
|
|
|
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs)
|
rs80359516
|
|
|
NM_000059.4(BRCA2):c.5496dup (p.Asn1833Ter)
|
rs786203853
|
|
|
NM_000059.4(BRCA2):c.551T>C (p.Leu184Pro)
|
rs80358775
|
|
|
NM_000059.4(BRCA2):c.5534G>A (p.Arg1845Lys)
|
rs1593905700
|
|
|
NM_000059.4(BRCA2):c.5542del (p.Ser1848fs)
|
rs80359519
|
|
|
NM_000059.4(BRCA2):c.5555T>A (p.Val1852Asp)
|
rs483352930
|
|
|
NM_000059.4(BRCA2):c.5557del (p.Cys1853fs)
|
rs587782011
|
|
|
NM_000059.4(BRCA2):c.5557dup (p.Cys1853fs)
|
rs587782011
|
|
|
NM_000059.4(BRCA2):c.5560_5561del (p.Val1854fs)
|
rs397507787
|
|
|
NM_000059.4(BRCA2):c.5566_5567inv (p.His1856Cys)
|
|
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
|
NM_000059.4(BRCA2):c.5577del (p.Lys1861_Val1862insTer)
|
rs397507355
|
|
|
NM_000059.4(BRCA2):c.5580_5584del (p.Lys1860fs)
|
rs397507789
|
|
|
NM_000059.4(BRCA2):c.5583dup (p.Val1862fs)
|
rs397507790
|
|
|
NM_000059.4(BRCA2):c.5585_5588del (p.Val1862fs)
|
rs80359523
|
|
|
NM_000059.4(BRCA2):c.5593dup (p.Ile1865fs)
|
rs2137518942
|
|
|
NM_000059.4(BRCA2):c.5595_5596del (p.Phe1866fs)
|
rs80359524
|
|
|
NM_000059.4(BRCA2):c.559G>A (p.Glu187Lys)
|
rs80358780
|
|
|
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)
|
rs276174859
|
|
|
NM_000059.4(BRCA2):c.560A>T (p.Glu187Val)
|
rs2072349711
|
|
|
NM_000059.4(BRCA2):c.5614A>T (p.Lys1872Ter)
|
rs80358783
|
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
|
NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs)
|
rs80359526
|
|
|
NM_000059.4(BRCA2):c.5631del (p.Asn1877fs)
|
rs397507357
|
|
|
NM_000059.4(BRCA2):c.5633del (p.Asn1878fs)
|
|
|
|
NM_000059.4(BRCA2):c.5634C>T (p.Asn1878=)
|
rs80358784
|
|
|
NM_000059.4(BRCA2):c.5635G>T (p.Glu1879Ter)
|
rs55996097
|
|
|
NM_000059.4(BRCA2):c.5644_5647del (p.Ser1882fs)
|
rs1555284326
|
|
|
NM_000059.4(BRCA2):c.5647A>G (p.Lys1883Glu)
|
|
|
|
NM_000059.4(BRCA2):c.5649A>C (p.Lys1883Asn)
|
rs80358787
|
|
|
NM_000059.4(BRCA2):c.5650_5659del (p.Ile1884fs)
|
rs397507794
|
|
|
NM_000059.4(BRCA2):c.5656C>T (p.Gln1886Ter)
|
rs80358790
|
|
|
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=)
|
rs80359793
|
|
|
NM_000059.4(BRCA2):c.5681dup (p.Tyr1894Ter)
|
rs80359527
|
|
|
NM_000059.4(BRCA2):c.5682C>A (p.Tyr1894Ter)
|
rs41293497
|
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
|
NM_000059.4(BRCA2):c.5683G>C (p.Glu1895Gln)
|
rs146351301
|
|
|
NM_000059.4(BRCA2):c.568C>G (p.Pro190Ala)
|
rs864622312
|
|
|
NM_000059.4(BRCA2):c.5692del (p.Asp1898fs)
|
rs398122539
|
|
|
NM_000059.4(BRCA2):c.5699C>G (p.Ser1900Ter)
|
rs397507797
|
|
|
NM_000059.4(BRCA2):c.5702_5703del (p.Glu1901fs)
|
rs80359528
|
|
|
NM_000059.4(BRCA2):c.571G>A (p.Asp191Asn)
|
|
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
|
NM_000059.4(BRCA2):c.572A>G (p.Asp191Gly)
|
rs397507798
|
|
|
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)
|
rs431825334
|
|
|
NM_000059.4(BRCA2):c.5748T>G (p.His1916Gln)
|
rs1555284387
|
|
|
NM_000059.4(BRCA2):c.574_575del (p.Met192fs)
|
rs80359533
|
|
|
NM_000059.4(BRCA2):c.5754_5755del (p.His1918fs)
|
rs397507803
|
|
|
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr)
|
rs80358805
|
|
|
NM_000059.4(BRCA2):c.5763del (p.Phe1921fs)
|
rs80359534
|
|
|
NM_000059.4(BRCA2):c.5763dup (p.Ala1922fs)
|
rs80359534
|
|
|
NM_000059.4(BRCA2):c.5771_5774del (p.Ile1924fs)
|
rs80359535
|
|
|
NM_000059.4(BRCA2):c.5773C>T (p.Gln1925Ter)
|
rs80358806
|
|
|
NM_000059.4(BRCA2):c.5774_5777del (p.Gln1925fs)
|
rs397507804
|
|
|
NM_000059.4(BRCA2):c.5782G>T (p.Glu1928Ter)
|
rs56253082
|
|
|
NM_000059.4(BRCA2):c.5789del (p.Leu1930fs)
|
rs397507806
|
|
|
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter)
|
rs80358807
|
|
|
NM_000059.4(BRCA2):c.5796_5797del (p.His1932fs)
|
rs80359537
|
|
|
NM_000059.4(BRCA2):c.5799_5800del (p.Asn1933fs)
|
rs397507807
|
|
|
NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs)
|
rs80359538
|
|
|
NM_000059.4(BRCA2):c.5807del (p.Met1936fs)
|
rs1555284404
|
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
|
NM_000059.4(BRCA2):c.581G>C (p.Trp194Ser)
|
rs80358809
|
|
|
NM_000059.4(BRCA2):c.5829_5830del (p.Lys1944fs)
|
rs397507808
|
|
|
NM_000059.4(BRCA2):c.5835_5843dup (p.Cys1948Ter)
|
rs397507809
|
|
|
NM_000059.4(BRCA2):c.584C>G (p.Ser195Ter)
|
rs886038053
|
|
|
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)
|
rs80359543
|
|
|
NM_000059.4(BRCA2):c.5851_5854dup (p.Leu1952Ter)
|
rs80359543
|
|
|
NM_000059.4(BRCA2):c.5860A>G (p.Thr1954Ala)
|
rs1566233345
|
|
|
NM_000059.4(BRCA2):c.5861C>T (p.Thr1954Ile)
|
rs1060502413
|
|
|
NM_000059.4(BRCA2):c.5864C>G (p.Ser1955Ter)
|
rs80358815
|
|
|
NM_000059.4(BRCA2):c.587G>C (p.Ser196Thr)
|
rs80358818
|
|
|
NM_000059.4(BRCA2):c.5881del (p.Ser1961fs)
|
rs2137521963
|
|
|
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)
|
rs80358824
|
|
|
NM_000059.4(BRCA2):c.5922T>C (p.Thr1974=)
|
rs786201515
|
|
|
NM_000059.4(BRCA2):c.5934del (p.Phe1978fs)
|
rs80359548
|
|
|
NM_000059.4(BRCA2):c.5944del (p.Ser1982fs)
|
rs796460349
|
|
|
NM_000059.4(BRCA2):c.5946_5950del (p.Ser1982fs)
|
rs397507813
|
|
|
NM_000059.4(BRCA2):c.5947G>A (p.Gly1983Arg)
|
rs1555284478
|
|
|
NM_000059.4(BRCA2):c.5959C>T (p.Gln1987Ter)
|
rs80358828
|
|
|
NM_000059.4(BRCA2):c.595G>C (p.Ala199Pro)
|
rs376582345
|
|
|
NM_000059.4(BRCA2):c.595_598del (p.Ala199fs)
|
rs886040622
|
|
|
NM_000059.4(BRCA2):c.595_599dup (p.Pro201fs)
|
rs397507816
|
|
|
NM_000059.4(BRCA2):c.5964_5965del (p.Ser1989fs)
|
rs397507817
|
|
|
NM_000059.4(BRCA2):c.5980C>T (p.Gln1994Ter)
|
rs80358831
|
|
|
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser)
|
rs80358833
|
|
|
NM_000059.4(BRCA2):c.5987C>G (p.Ala1996Gly)
|
rs80358834
|
|
|
NM_000059.4(BRCA2):c.5991_5995del (p.Arg1997fs)
|
rs1555284490
|
|
|
NM_000059.4(BRCA2):c.5993A>G (p.Gln1998Arg)
|
rs80358835
|
|
|
NM_000059.4(BRCA2):c.5993_5994del (p.Gln1998fs)
|
rs886038136
|
|
|
NM_000059.4(BRCA2):c.59A>G (p.Asn20Ser)
|
rs398122544
|
|
|
NM_000059.4(BRCA2):c.6011_6017del (p.Glu2004fs)
|
rs397507362
|
|
|
NM_000059.4(BRCA2):c.6014del (p.Asp2005fs)
|
rs2137523279
|
|
|
NM_000059.4(BRCA2):c.6018T>A (p.Ser2006Arg)
|
rs397507821
|
|
|
NM_000059.4(BRCA2):c.6020C>T (p.Thr2007Ile)
|
rs397507363
|
|
|
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs)
|
rs80359554
|
|
|
NM_000059.4(BRCA2):c.6025C>T (p.Gln2009Ter)
|
rs80358838
|
|
|
NM_000059.4(BRCA2):c.602C>G (p.Pro201Arg)
|
rs397507822
|
|
|
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=)
|
rs786201328
|
|
|
NM_000059.4(BRCA2):c.6034T>C (p.Ser2012Pro)
|
|
|
|
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)
|
rs80358840
|
|
|
NM_000059.4(BRCA2):c.6051_6056del (p.Lys2017_Ser2018del)
|
rs2072545044
|
|
|
NM_000059.4(BRCA2):c.6059_6062del (p.Glu2020fs)
|
rs398122546
|
|
|
NM_000059.4(BRCA2):c.6060_6063del (p.Glu2020fs)
|
rs397507825
|
|
|
NM_000059.4(BRCA2):c.6078_6079del (p.Glu2028fs)
|
rs80359557
|
|
|
NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs)
|
rs80359558
|
|
|
NM_000059.4(BRCA2):c.6083A>G (p.Glu2028Gly)
|
rs1555284531
|
|
|
NM_000059.4(BRCA2):c.6091dup (p.Thr2031fs)
|
rs587782717
|
|
|
NM_000059.4(BRCA2):c.6096dup (p.Ile2033fs)
|
rs397507829
|
|
|
NM_000059.4(BRCA2):c.610del (p.Ser205fs)
|
rs80359560
|
|
|
NM_000059.4(BRCA2):c.610dup (p.Leu204fs)
|
rs80359560
|
|
|
NM_000059.4(BRCA2):c.6121T>A (p.Ser2041Thr)
|
rs1160083526
|
|
|
NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter)
|
rs80358851
|
|
|
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)
|
rs56191579
|
|
|
NM_000059.4(BRCA2):c.6144T>G (p.Asn2048Lys)
|
rs587782775
|
|
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
rs80358854
|
|
|
NM_000059.4(BRCA2):c.6155C>A (p.Ser2052Ter)
|
rs786202461
|
|
|
NM_000059.4(BRCA2):c.617C>G (p.Ser206Cys)
|
rs397507832
|
|
|
NM_000059.4(BRCA2):c.6206T>G (p.Leu2069Ter)
|
rs80358859
|
|
|
NM_000059.4(BRCA2):c.6206del (p.Ile2068_Leu2069insTer)
|
rs397507834
|
|
|
NM_000059.4(BRCA2):c.6209_6212del (p.Glu2070fs)
|
rs276174866
|
|
|
NM_000059.4(BRCA2):c.6224_6225del (p.Lys2075fs)
|
|
|
|
NM_000059.4(BRCA2):c.622G>C (p.Val208Leu)
|
rs1593887544
|
|
|
NM_000059.4(BRCA2):c.6232G>T (p.Gly2078Ter)
|
rs1555284605
|
|
|
NM_000059.4(BRCA2):c.6244del (p.Glu2082fs)
|
rs2072549980
|
|
|
NM_000059.4(BRCA2):c.6259del (p.Arg2087fs)
|
|
|
|
NM_000059.4(BRCA2):c.6263del (p.Thr2088fs)
|
rs1064794647
|
|
|
NM_000059.4(BRCA2):c.6267_6269delinsC (p.Glu2089fs)
|
rs276174868
|
|
|
NM_000059.4(BRCA2):c.6267_6270dup (p.Ser2091delinsAlaTer)
|
rs730881611
|
|
|
NM_000059.4(BRCA2):c.6269A>G (p.His2090Arg)
|
rs397507366
|
|
|
NM_000059.4(BRCA2):c.6269del (p.His2090fs)
|
rs1375058950
|
|
|
NM_000059.4(BRCA2):c.6276del (p.His2093fs)
|
rs397507837
|
|
|
NM_000059.4(BRCA2):c.6288_6289del (p.Thr2097fs)
|
|
|
|
NM_000059.4(BRCA2):c.6302del (p.Asn2101fs)
|
rs397507839
|
|
|
NM_000059.4(BRCA2):c.6304G>A (p.Val2102Ile)
|
rs80358869
|
|
|
NM_000059.4(BRCA2):c.6307T>C (p.Ser2103Pro)
|
rs2072551841
|
|
|
NM_000059.4(BRCA2):c.631+2T>C
|
rs81002899
|
|
|
NM_000059.4(BRCA2):c.631+6A>C
|
rs1555281108
|
|
|
NM_000059.4(BRCA2):c.631+7A>G
|
rs431825339
|
|
|
NM_000059.4(BRCA2):c.6313del (p.Ile2105fs)
|
rs886040649
|
|
|
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)
|
rs80358871
|
|
|
NM_000059.4(BRCA2):c.632-2A>G
|
rs397507842
|
|
|
NM_000059.4(BRCA2):c.632-3_632-2del
|
rs431825341
|
|
|
NM_000059.4(BRCA2):c.632T>C (p.Val211Ala)
|
rs397507843
|
|
|
NM_000059.4(BRCA2):c.6331_6332del (p.Lys2111fs)
|
rs587781470
|
|
|
NM_000059.4(BRCA2):c.6333_6337del (p.Arg2112fs)
|
rs397507369
|
|
|
NM_000059.4(BRCA2):c.6352_6353del (p.Val2118fs)
|
rs80359576
|
|
|
NM_000059.4(BRCA2):c.635_636del (p.Arg212fs)
|
rs80359575
|
|
|
NM_000059.4(BRCA2):c.6361_6362del (p.Glu2121fs)
|
rs886038144
|
|
|
NM_000059.4(BRCA2):c.6362A>G (p.Glu2121Gly)
|
rs397507846
|
|
|
NM_000059.4(BRCA2):c.6367_6370dup (p.Lys2124fs)
|
rs786203430
|
|
|
NM_000059.4(BRCA2):c.6373del (p.Thr2125fs)
|
rs80359577
|
|
|
NM_000059.4(BRCA2):c.6373dup (p.Thr2125fs)
|
rs80359577
|
|
|
NM_000059.4(BRCA2):c.6384A>C (p.Lys2128Asn)
|
rs397507847
|
|
|
NM_000059.4(BRCA2):c.6390dup (p.Lys2131Ter)
|
rs397507848
|
|
|
NM_000059.4(BRCA2):c.6397dup (p.Ser2133fs)
|
rs431825342
|
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
|
NM_000059.4(BRCA2):c.6406_6407del (p.Leu2136fs)
|
rs397507850
|
|
|
NM_000059.4(BRCA2):c.6408_6414del (p.Asn2137fs)
|
rs397507851
|
|
|
NM_000059.4(BRCA2):c.6410del (p.Asn2137fs)
|
rs886038146
|
|
|
NM_000059.4(BRCA2):c.6417_6418insT (p.Gly2140fs)
|
|
|
|
NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del)
|
rs80359588
|
|
|
NM_000059.4(BRCA2):c.6420_6421insA (p.Gly2141fs)
|
rs397507852
|
|
|
NM_000059.4(BRCA2):c.6428del (p.Ser2142_Ser2143insTer)
|
rs397507854
|
|
|
NM_000059.4(BRCA2):c.6434del (p.Asn2145fs)
|
rs80359587
|
|
|
NM_000059.4(BRCA2):c.6437_6440del (p.Asn2146fs)
|
rs397507855
|
|
|
NM_000059.4(BRCA2):c.643del (p.Glu215fs)
|
rs2137458206
|
|
|
NM_000059.4(BRCA2):c.6444dup (p.Ile2149fs)
|
rs80359590
|
|
|
NM_000059.4(BRCA2):c.6445_6446del (p.Ser2148_Ile2149insTer)
|
rs80359592
|
|
|
NM_000059.4(BRCA2):c.6446_6447del (p.Ile2149fs)
|
rs876660421
|
|
|
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs)
|
rs80359593
|
|
|
NM_000059.4(BRCA2):c.6447_6448del (p.Lys2150fs)
|
rs397507857
|
|
|
NM_000059.4(BRCA2):c.6447_6448dup (p.Lys2150fs)
|
rs397507858
|
|
|
NM_000059.4(BRCA2):c.6450dup (p.Val2151fs)
|
rs80359594
|
|
|
NM_000059.4(BRCA2):c.6465C>T (p.Leu2155=)
|
rs746099644
|
|
|
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs)
|
rs80359596
|
|
|
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs)
|
rs80359596
|
|
|
NM_000059.4(BRCA2):c.6468_6469dup (p.Gln2157fs)
|
rs80359596
|
|
|
NM_000059.4(BRCA2):c.6469C>G (p.Gln2157Glu)
|
rs397507859
|
|
|
NM_000059.4(BRCA2):c.6469C>T (p.Gln2157Ter)
|
rs397507859
|
|
|
NM_000059.4(BRCA2):c.6478C>T (p.Gln2160Ter)
|
rs886040658
|
|
|
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs)
|
rs80359598
|
|
|
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter)
|
rs398122559
|
|
|
NM_000059.4(BRCA2):c.6491_6495del (p.Gln2164fs)
|
rs397507863
|
|
|
NM_000059.4(BRCA2):c.6495G>A (p.Leu2165=)
|
rs1555284722
|
|
|
NM_000059.4(BRCA2):c.6496G>C (p.Val2166Leu)
|
rs750084851
|
|
|
NM_000059.4(BRCA2):c.6503G>C (p.Gly2168Ala)
|
rs397507372
|
|
|
NM_000059.4(BRCA2):c.6509_6510del (p.Lys2170fs)
|
rs80359600
|
|
|
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=)
|
rs206076
|
|
|
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=)
|
rs206076
|
|
|
NM_000059.4(BRCA2):c.6527del (p.Asn2176fs)
|
rs397507864
|
|
|
NM_000059.4(BRCA2):c.6528_6535dup
|
rs1555284738
|
|
|
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr)
|
rs1060502462
|
|
|
NM_000059.4(BRCA2):c.6531_6534del (p.Ile2177fs)
|
rs397507865
|
|
|
NM_000059.4(BRCA2):c.6531dup (p.His2178fs)
|
rs886040664
|
|
|
NM_000059.4(BRCA2):c.6535_6536insA (p.Val2179fs)
|
rs80359601
|
|
|
NM_000059.4(BRCA2):c.6547G>T (p.Glu2183Ter)
|
rs397507866
|
|
|
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs)
|
rs397507373
|
|
|
NM_000059.4(BRCA2):c.6567_6574del (p.Val2190fs)
|
|
|
|
NM_000059.4(BRCA2):c.6582del (p.Ile2194fs)
|
rs1566234955
|
|
|
NM_000059.4(BRCA2):c.6589del (p.Thr2197fs)
|
rs397507868
|
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
|
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)
|
rs80359605
|
|
|
NM_000059.4(BRCA2):c.6596_6597delinsA (p.Thr2199fs)
|
rs1593909229
|
|
|
NM_000059.4(BRCA2):c.6599T>C (p.Phe2200Ser)
|
rs1372423132
|
|
|
NM_000059.4(BRCA2):c.6599_6601del (p.Phe2200del)
|
|
|
|
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer)
|
rs80359607
|
|
|
NM_000059.4(BRCA2):c.6622_6623del (p.Asn2208fs)
|
|
|
|
NM_000059.4(BRCA2):c.662_663del (p.Phe221fs)
|
rs80359609
|
|
|
NM_000059.4(BRCA2):c.6634_6637del (p.Cys2212fs)
|
rs397507871
|
|
|
NM_000059.4(BRCA2):c.6635_6636del (p.Cys2212fs)
|
rs397507872
|
|
|
NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs)
|
rs80359613
|
|
|
NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs)
|
rs80359614
|
|
|
NM_000059.4(BRCA2):c.6644dup (p.Tyr2215Ter)
|
rs80359615
|
|
|
NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter)
|
rs80358892
|
|
|
NM_000059.4(BRCA2):c.664C>T (p.Pro222Ser)
|
rs397507873
|
|
|
NM_000059.4(BRCA2):c.6652dup (p.Asp2218fs)
|
rs397507874
|
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
|
NM_000059.4(BRCA2):c.6658G>T (p.Glu2220Ter)
|
|
|
|
NM_000059.4(BRCA2):c.6681dup (p.Val2228fs)
|
rs1555284790
|
|
|
NM_000059.4(BRCA2):c.6684del (p.Glu2229fs)
|
rs397507876
|
|
|
NM_000059.4(BRCA2):c.6685G>T (p.Glu2229Ter)
|
rs730881548
|
|
|
NM_000059.4(BRCA2):c.6696del (p.Ala2233fs)
|
rs878853301
|
|
|
NM_000059.4(BRCA2):c.67+1G>A
|
rs81002796
|
|
|
NM_000059.4(BRCA2):c.67+1G>T
|
rs81002796
|
|
|
NM_000059.4(BRCA2):c.67+225G>A
|
|
|
|
NM_000059.4(BRCA2):c.67+25T>C
|
|
|
|
NM_000059.4(BRCA2):c.6711TGA[1] (p.Asp2238del)
|
rs786202738
|
|
|
NM_000059.4(BRCA2):c.6712_6713insGG (p.Asp2238fs)
|
rs1555284811
|
|
|
NM_000059.4(BRCA2):c.6714T>G (p.Asp2238Glu)
|
rs28897742
|
|
|
NM_000059.4(BRCA2):c.6715G>T (p.Glu2239Ter)
|
rs276174876
|
|
|
NM_000059.4(BRCA2):c.671A>T (p.Asp224Val)
|
rs397507878
|
|
|
NM_000059.4(BRCA2):c.6724_6725del (p.Asp2242fs)
|
rs397507375
|
|
|
NM_000059.4(BRCA2):c.6727_6728insAT (p.Ser2243fs)
|
rs1566235284
|
|
|
NM_000059.4(BRCA2):c.6742C>T (p.His2248Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.674C>T (p.Thr225Ile)
|
rs1555281361
|
|
|
NM_000059.4(BRCA2):c.6757_6758del (p.Leu2253fs)
|
rs80359623
|
|
|
NM_000059.4(BRCA2):c.6761T>A (p.Phe2254Tyr)
|
rs786202915
|
|
|
NM_000059.4(BRCA2):c.6761_6762del (p.Phe2254fs)
|
rs80359624
|
|
|
NM_000059.4(BRCA2):c.6777_6778del (p.Asn2259fs)
|
rs786204279
|
|
|
NM_000059.4(BRCA2):c.6787delinsTT (p.Val2263fs)
|
|
|
|
NM_000059.4(BRCA2):c.6796A>C (p.Asn2266His)
|
rs80358905
|
|
|
NM_000059.4(BRCA2):c.679G>A (p.Ala227Thr)
|
rs398122563
|
|
|
NM_000059.4(BRCA2):c.68-1G>T
|
rs1060502376
|
|
|
NM_000059.4(BRCA2):c.68-2_316+1del
|
rs2138703519
|
|
|
NM_000059.4(BRCA2):c.68-352_317-1637del
|
|
|
|
NM_000059.4(BRCA2):c.68-5A>G
|
rs1555280326
|
|
|
NM_000059.4(BRCA2):c.68-7dup
|
rs276174878
|
|
|
NM_000059.4(BRCA2):c.68-9T>G
|
rs397507883
|
|
|
NM_000059.4(BRCA2):c.6800C>A (p.Ser2267Ter)
|
rs377698594
|
|
|
NM_000059.4(BRCA2):c.6808_6836del (p.Gly2270fs)
|
rs2137530818
|
|
|
NM_000059.4(BRCA2):c.681+1G>A
|
rs398122565
|
|
|
NM_000059.4(BRCA2):c.681+4A>T
|
rs397507884
|
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
|
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys)
|
rs587782174
|
|
|
NM_000059.4(BRCA2):c.6819delinsGT (p.Gly2274fs)
|
rs2137530913
|
|
|
NM_000059.4(BRCA2):c.682-12_682-11del
|
rs276174879
|
|
|
NM_000059.4(BRCA2):c.682-1G>T
|
rs81002831
|
|
|
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr)
|
rs80358907
|
|
|
NM_000059.4(BRCA2):c.6833_6837del (p.Ile2278fs)
|
rs80359626
|
|
|
NM_000059.4(BRCA2):c.6841+2T>G
|
rs1593909960
|
|
|
NM_000059.4(BRCA2):c.6841+80_6841+83del
|
rs11571661
|
|
|
NM_000059.4(BRCA2):c.6842G>T (p.Gly2281Val)
|
rs80358908
|
|
|
NM_000059.4(BRCA2):c.684del (p.Asn228fs)
|
rs2137461104
|
|
|
NM_000059.4(BRCA2):c.6863A>T (p.Asn2288Ile)
|
rs398122569
|
|
|
NM_000059.4(BRCA2):c.6884G>A (p.Arg2295Lys)
|
|
|
|
NM_000059.4(BRCA2):c.6884G>C (p.Arg2295Thr)
|
rs1555285151
|
|
|
NM_000059.4(BRCA2):c.688A>T (p.Lys230Ter)
|
rs80358913
|
|
|
NM_000059.4(BRCA2):c.6890T>C (p.Ile2297Thr)
|
rs1566236920
|
|
|
NM_000059.4(BRCA2):c.6907T>C (p.Ser2303Pro)
|
rs1060502494
|
|
|
NM_000059.4(BRCA2):c.6916G>C (p.Ala2306Pro)
|
rs730881550
|
|
|
NM_000059.4(BRCA2):c.6916_6917insA (p.Ala2306fs)
|
|
|
|
NM_000059.4(BRCA2):c.691_692delinsGA (p.Ser231Asp)
|
rs2072384735
|
|
|
NM_000059.4(BRCA2):c.6922A>G (p.Lys2308Glu)
|
rs398122570
|
|
|
NM_000059.4(BRCA2):c.6938-11T>G
|
|
|
|
NM_000059.4(BRCA2):c.6941C>T (p.Thr2314Ile)
|
rs1177474377
|
|
|
NM_000059.4(BRCA2):c.6941del (p.Thr2314fs)
|
rs80359628
|
|
|
NM_000059.4(BRCA2):c.6944_6947del (p.Ile2315fs)
|
rs80359629
|
|
|
NM_000059.4(BRCA2):c.6952C>G (p.Arg2318Gly)
|
rs80358920
|
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
|
NM_000059.4(BRCA2):c.6956G>C (p.Arg2319Thr)
|
rs80358922
|
|
|
NM_000059.4(BRCA2):c.6972T>G (p.His2324Gln)
|
|
|
|
NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val)
|
rs876661032
|
|
|
NM_000059.4(BRCA2):c.6990_6994del (p.Ile2330fs)
|
rs80359631
|
|
|
NM_000059.4(BRCA2):c.6995G>A (p.Cys2332Tyr)
|
rs786202536
|
|
|
NM_000059.4(BRCA2):c.6996del (p.Cys2332fs)
|
rs397507889
|
|
|
NM_000059.4(BRCA2):c.7003T>G (p.Phe2335Val)
|
rs1555285365
|
|
|
NM_000059.4(BRCA2):c.7007+5G>A
|
rs81002816
|
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
|
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)
|
rs28897743
|
|
|
NM_000059.4(BRCA2):c.7008-1_7435+372del
|
rs2137555065
|
|
|
NM_000059.4(BRCA2):c.7008-2A>G
|
rs81002823
|
|
|
NM_000059.4(BRCA2):c.7008-2A>T
|
rs81002823
|
|
|
NM_000059.4(BRCA2):c.7008-5T>C
|
rs397507380
|
|
|
NM_000059.4(BRCA2):c.7021C>G (p.Arg2341Gly)
|
rs41293505
|
|
|
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)
|
rs80358928
|
|
|
NM_000059.4(BRCA2):c.7033C>G (p.Gln2345Glu)
|
rs886040685
|
|
|
NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln)
|
rs80358929
|
|
|
NM_000059.4(BRCA2):c.7045T>C (p.Phe2349Leu)
|
rs1555285984
|
|
|
NM_000059.4(BRCA2):c.7051G>C (p.Ala2351Pro)
|
rs80358930
|
|
|
NM_000059.4(BRCA2):c.7052C>T (p.Ala2351Val)
|
rs80358932
|
|
|
NM_000059.4(BRCA2):c.7054C>A (p.Pro2352Thr)
|
rs776714935
|
|
|
NM_000059.4(BRCA2):c.705T>G (p.Asn235Lys)
|
rs587781484
|
|
|
NM_000059.4(BRCA2):c.7060C>T (p.Gln2354Ter)
|
rs80358936
|
|
|
NM_000059.4(BRCA2):c.7067_7068del (p.Phe2356fs)
|
rs397507894
|
|
|
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)
|
rs80359636
|
|
|
NM_000059.4(BRCA2):c.7082A>G (p.His2361Arg)
|
rs876659579
|
|
|
NM_000059.4(BRCA2):c.7082_7100dup (p.Thr2367_Leu2368insPheValTer)
|
rs397507895
|
|
|
NM_000059.4(BRCA2):c.7088A>G (p.Tyr2363Cys)
|
rs80358939
|
|
|
NM_000059.4(BRCA2):c.7095T>A (p.His2365Gln)
|
rs370708814
|
|
|
NM_000059.4(BRCA2):c.7125A>T (p.Leu2375Phe)
|
|
|
|
NM_000059.4(BRCA2):c.712G>T (p.Glu238Ter)
|
rs56383036
|
|
|
NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter)
|
rs276174889
|
|
|
NM_000059.4(BRCA2):c.7141C>G (p.Pro2381Ala)
|
rs777305503
|
|
|
NM_000059.4(BRCA2):c.7142C>A (p.Pro2381Gln)
|
rs746751519
|
|
|
NM_000059.4(BRCA2):c.7151_7152del (p.Gln2384fs)
|
rs276174890
|
|
|
NM_000059.4(BRCA2):c.715del (p.Ser239fs)
|
rs431825350
|
|
|
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile)
|
rs1555286026
|
|
|
NM_000059.4(BRCA2):c.7166G>A (p.Arg2389Lys)
|
rs1302207132
|
|
|
NM_000059.4(BRCA2):c.7166del (p.Arg2389fs)
|
rs397507898
|
|
|
NM_000059.4(BRCA2):c.716del (p.Ser239fs)
|
|
|
|
NM_000059.4(BRCA2):c.7177del (p.Lys2392_Met2393insTer)
|
rs397507899
|
|
|
NM_000059.4(BRCA2):c.7183del (p.His2395fs)
|
rs397507900
|
|
|
NM_000059.4(BRCA2):c.7187dup (p.Leu2396fs)
|
rs397507901
|
|
|
NM_000059.4(BRCA2):c.71T>A (p.Leu24Ter)
|
rs397507902
|
|
|
NM_000059.4(BRCA2):c.71del (p.Asp23_Leu24insTer)
|
rs397507903
|
|
|
NM_000059.4(BRCA2):c.7208_7211del (p.Thr2403fs)
|
rs80359641
|
|
|
NM_000059.4(BRCA2):c.7209_7212delinsGG (p.Lys2404fs)
|
rs876659770
|
|
|
NM_000059.4(BRCA2):c.7210_7216delinsTG (p.Lys2404fs)
|
rs397507904
|
|
|
NM_000059.4(BRCA2):c.7213G>C (p.Val2405Leu)
|
rs1555286046
|
|
|
NM_000059.4(BRCA2):c.7224_7227del (p.Pro2409fs)
|
rs397507905
|
|
|
NM_000059.4(BRCA2):c.722del (p.Lys241fs)
|
rs2137461470
|
|
|
NM_000059.4(BRCA2):c.7232A>G (p.Lys2411Arg)
|
|
|
|
NM_000059.4(BRCA2):c.7234A>C (p.Thr2412Pro)
|
rs876659118
|
|
|
NM_000059.4(BRCA2):c.7234_7235insG (p.Thr2412fs)
|
rs397507906
|
|
|
NM_000059.4(BRCA2):c.7235C>T (p.Thr2412Ile)
|
rs397507384
|
|
|
NM_000059.4(BRCA2):c.7237_7240del (p.Lys2413fs)
|
rs1566241033
|
|
|
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=)
|
rs1799955
|
|
|
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs)
|
rs397507907
|
|
|
NM_000059.4(BRCA2):c.7254_7255del (p.Arg2418fs)
|
rs80359644
|
|
|
NM_000059.4(BRCA2):c.7284G>C (p.Leu2428Phe)
|
rs2137557628
|
|
|
NM_000059.4(BRCA2):c.7284G>T (p.Leu2428Phe)
|
|
|
|
NM_000059.4(BRCA2):c.7288G>T (p.Glu2430Ter)
|
|
|
|
NM_000059.4(BRCA2):c.728del (p.Asn243fs)
|
rs886040697
|
|
|
NM_000059.4(BRCA2):c.7297C>T (p.Gln2433Ter)
|
|
|
|
NM_000059.4(BRCA2):c.729_732del (p.Asn243fs)
|
rs80359645
|
|
|
NM_000059.4(BRCA2):c.7301del (p.Lys2434fs)
|
rs786202441
|
|
|
NM_000059.4(BRCA2):c.7304A>G (p.Gln2435Arg)
|
rs786202355
|
|
|
NM_000059.4(BRCA2):c.7308C>T (p.Asn2436=)
|
rs2137557865
|
|
|
NM_000059.4(BRCA2):c.7309A>G (p.Ile2437Val)
|
rs771175403
|
|
|
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val)
|
rs431825352
|
|
|
NM_000059.4(BRCA2):c.7334G>C (p.Ser2445Thr)
|
|
|
|
NM_000059.4(BRCA2):c.7343A>G (p.Lys2448Arg)
|
rs431825353
|
|
|
NM_000059.4(BRCA2):c.7363dup (p.His2455fs)
|
|
|
|
NM_000059.4(BRCA2):c.7366C>G (p.Gln2456Glu)
|
rs397507912
|
|
|
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter)
|
rs397507912
|
|
|
NM_000059.4(BRCA2):c.7379_7380insG (p.Asn2460fs)
|
rs80359647
|
|
|
NM_000059.4(BRCA2):c.7380_7381insG (p.Asn2461fs)
|
rs730881612
|
|
|
NM_000059.4(BRCA2):c.7385C>T (p.Ser2462Phe)
|
rs2137558613
|
|
|
NM_000059.4(BRCA2):c.7409dup (p.Thr2471fs)
|
rs397507915
|
|
|
NM_000059.4(BRCA2):c.7414_7415del (p.Lys2472fs)
|
rs80359650
|
|
|
NM_000059.4(BRCA2):c.7419_7420del (p.Cys2473_Glu2474delinsTer)
|
rs80359651
|
|
|
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)
|
rs876659222
|
|
|
NM_000059.4(BRCA2):c.7426_7427delinsCC (p.Glu2476Pro)
|
rs1566241348
|
|
|
NM_000059.4(BRCA2):c.7429C>T (p.Pro2477Ser)
|
rs80358964
|
|
|
NM_000059.4(BRCA2):c.7436-2_7437del
|
rs876659229
|
|
|
NM_000059.4(BRCA2):c.7439T>A (p.Leu2480Ter)
|
|
|
|
NM_000059.4(BRCA2):c.743C>T (p.Ala248Val)
|
rs276174893
|
|
|
NM_000059.4(BRCA2):c.7449T>G (p.Ser2483Arg)
|
rs1566241861
|
|
|
NM_000059.4(BRCA2):c.7457A>G (p.Asn2486Ser)
|
rs786203755
|
|
|
NM_000059.4(BRCA2):c.7464A>C (p.Arg2488Ser)
|
rs80358969
|
|
|
NM_000059.4(BRCA2):c.7467dup (p.Ile2490fs)
|
rs397507918
|
|
|
NM_000059.4(BRCA2):c.7471C>T (p.Gln2491Ter)
|
rs80358971
|
|
|
NM_000059.4(BRCA2):c.7477A>T (p.Met2493Leu)
|
rs1064793329
|
|
|
NM_000059.4(BRCA2):c.7478T>G (p.Met2493Arg)
|
rs863224597
|
|
|
NM_000059.4(BRCA2):c.7485dup (p.Lys2496Ter)
|
rs886038171
|
|
|
NM_000059.4(BRCA2):c.748G>A (p.Val250Met)
|
rs1593890284
|
|
|
NM_000059.4(BRCA2):c.748del (p.Ser249_Val250insTer)
|
rs80359654
|
|
|
NM_000059.4(BRCA2):c.7493A>C (p.Lys2498Thr)
|
rs587776469
|
|
|
NM_000059.4(BRCA2):c.7514C>A (p.Pro2505Gln)
|
|
|
|
NM_000059.4(BRCA2):c.7525_7526delinsGACT (p.Ser2509fs)
|
|
|
|
NM_000059.4(BRCA2):c.7525_7526insT (p.Ser2509fs)
|
rs1555286270
|
|
|
NM_000059.4(BRCA2):c.7526G>A (p.Ser2509Asn)
|
rs1555286271
|
|
|
NM_000059.4(BRCA2):c.7531dup (p.Tyr2511fs)
|
|
|
|
NM_000059.4(BRCA2):c.7543dup (p.Thr2515fs)
|
rs80359657
|
|
|
NM_000059.4(BRCA2):c.7549A>G (p.Thr2517Ala)
|
rs2072697978
|
|
|
NM_000059.4(BRCA2):c.7550C>G (p.Thr2517Ser)
|
rs1555286277
|
|
|
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs)
|
rs80359659
|
|
|
NM_000059.4(BRCA2):c.7578_7579del (p.Val2527fs)
|
rs2072698959
|
|
|
NM_000059.4(BRCA2):c.7580dup (p.Gly2528fs)
|
rs1555286298
|
|
|
NM_000059.4(BRCA2):c.7594C>T (p.Pro2532Ser)
|
rs397507388
|
|
|
NM_000059.4(BRCA2):c.7595C>A (p.Pro2532His)
|
rs967458408
|
|
|
NM_000059.4(BRCA2):c.7597T>G (p.Ser2533Ala)
|
rs786204150
|
|
|
NM_000059.4(BRCA2):c.7609C>T (p.His2537Tyr)
|
rs1555286310
|
|
|
NM_000059.4(BRCA2):c.7612A>G (p.Lys2538Glu)
|
rs397507921
|
|
|
NM_000059.4(BRCA2):c.7617+1G>A
|
rs397507922
|
|
|
NM_000059.4(BRCA2):c.7617+2T>G
|
rs81002843
|
|
|
NM_000059.4(BRCA2):c.7618-1G>A
|
rs397507389
|
|
|
NM_000059.4(BRCA2):c.7618-1G>C
|
rs397507389
|
|
|
NM_000059.4(BRCA2):c.7618-27T>A
|
rs397507925
|
|
|
NM_000059.4(BRCA2):c.7622A>G (p.Tyr2541Cys)
|
rs1566242642
|
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
|
NM_000059.4(BRCA2):c.7631G>A (p.Gly2544Asp)
|
rs397507926
|
|
|
NM_000059.4(BRCA2):c.7632_7633del (p.Val2545fs)
|
rs2137566201
|
|
|
NM_000059.4(BRCA2):c.7636_7645del (p.Ser2546fs)
|
rs397507927
|
|
|
NM_000059.4(BRCA2):c.763A>C (p.Asn255His)
|
rs2072386794
|
|
|
NM_000059.4(BRCA2):c.7641A>G (p.Lys2547=)
|
rs1555286393
|
|
|
NM_000059.4(BRCA2):c.7643_7644del (p.His2548fs)
|
rs886040724
|
|
|
NM_000059.4(BRCA2):c.7645T>G (p.Cys2549Gly)
|
rs2072708250
|
|
|
NM_000059.4(BRCA2):c.7648A>C (p.Ile2550Leu)
|
rs41293507
|
|
|
NM_000059.4(BRCA2):c.7651A>G (p.Lys2551Glu)
|
rs398122587
|
|
|
NM_000059.4(BRCA2):c.7659del (p.Asn2553fs)
|
|
|
|
NM_000059.4(BRCA2):c.765_769del (p.Asn255fs)
|
rs2072386817
|
|
|
NM_000059.4(BRCA2):c.7663A>T (p.Lys2555Ter)
|
|
|
|
NM_000059.4(BRCA2):c.7667del (p.Asn2556fs)
|
rs878853303
|
|
|
NM_000059.4(BRCA2):c.7670C>T (p.Ala2557Val)
|
rs775219538
|
|
|
NM_000059.4(BRCA2):c.7673_7674del (p.Glu2558fs)
|
rs80359672
|
|
|
NM_000059.4(BRCA2):c.7674G>C (p.Glu2558Asp)
|
rs730881558
|
|
|
NM_000059.4(BRCA2):c.7675_7676insAAAC (p.Ser2559Ter)
|
rs397507929
|
|
|
NM_000059.4(BRCA2):c.7676C>G (p.Ser2559Cys)
|
rs1060502421
|
|
|
NM_000059.4(BRCA2):c.7679T>C (p.Phe2560Ser)
|
rs376460800
|
|
|
NM_000059.4(BRCA2):c.7679_7680del (p.Phe2560fs)
|
rs80359673
|
|
|
NM_000059.4(BRCA2):c.7680del (p.Gln2561fs)
|
rs80359673
|
|
|
NM_000059.4(BRCA2):c.7681C>T (p.Gln2561Ter)
|
rs80358994
|
|
|
NM_000059.4(BRCA2):c.7684T>A (p.Phe2562Ile)
|
rs80358995
|
|
|
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys)
|
rs587782715
|
|
|
NM_000059.4(BRCA2):c.7689del (p.His2563fs)
|
rs80359674
|
|
|
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys)
|
rs764761862
|
|
|
NM_000059.4(BRCA2):c.7709A>G (p.Lys2570Arg)
|
rs730881559
|
|
|
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)
|
rs80359671
|
|
|
NM_000059.4(BRCA2):c.7721G>A (p.Trp2574Ter)
|
rs80358997
|
|
|
NM_000059.4(BRCA2):c.7722G>A (p.Trp2574Ter)
|
rs1060502433
|
|
|
NM_000059.4(BRCA2):c.7726G>T (p.Gly2576Ter)
|
rs1210418849
|
|
|
NM_000059.4(BRCA2):c.7732G>T (p.Gly2578Ter)
|
rs1593920920
|
|
|
NM_000059.4(BRCA2):c.774_775del (p.Glu260fs)
|
rs75096777
|
|
|
NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter)
|
rs80359004
|
|
|
NM_000059.4(BRCA2):c.775A>T (p.Arg259Ter)
|
rs397507937
|
|
|
NM_000059.4(BRCA2):c.7762_7764delinsTT (p.Ile2588fs)
|
rs483353072
|
|
|
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg)
|
rs876660874
|
|
|
NM_000059.4(BRCA2):c.7783G>A (p.Ala2595Thr)
|
rs80359007
|
|
|
NM_000059.4(BRCA2):c.7783G>T (p.Ala2595Ser)
|
rs80359007
|
|
|
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)
|
rs398122591
|
|
|
NM_000059.4(BRCA2):c.778_779del (p.Glu260fs)
|
rs80359677
|
|
|
NM_000059.4(BRCA2):c.7792G>T (p.Glu2598Ter)
|
rs1135401919
|
|
|
NM_000059.4(BRCA2):c.7805+1G>A
|
rs81002809
|
|
|
NM_000059.4(BRCA2):c.7806-15C>T
|
rs1555286802
|
|
|
NM_000059.4(BRCA2):c.7806-2A>G
|
rs81002836
|
|
|
NM_000059.4(BRCA2):c.7806-2A>T
|
rs81002836
|
|
|
NM_000059.4(BRCA2):c.7806-3C>G
|
rs863224598
|
|
|
NM_000059.4(BRCA2):c.7819A>G (p.Thr2607Ala)
|
rs80359008
|
|
|
NM_000059.4(BRCA2):c.7820C>T (p.Thr2607Ile)
|
rs1555286821
|
|
|
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val)
|
rs80359009
|
|
|
NM_000059.4(BRCA2):c.7828G>A (p.Val2610Met)
|
rs587780661
|
|
|
NM_000059.4(BRCA2):c.7847del (p.Ser2616fs)
|
rs80359685
|
|
|
NM_000059.4(BRCA2):c.7856G>A (p.Trp2619Ter)
|
rs397507941
|
|
|
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter)
|
rs80359011
|
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
|
NM_000059.4(BRCA2):c.7874G>A (p.Arg2625Lys)
|
rs864622552
|
|
|
NM_000059.4(BRCA2):c.7877G>A (p.Trp2626Ter)
|
rs587781506
|
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
|
NM_000059.4(BRCA2):c.787dup (p.Ser263fs)
|
rs690016538
|
|
|
NM_000059.4(BRCA2):c.7887G>T (p.Trp2629Cys)
|
rs886040734
|
|
|
NM_000059.4(BRCA2):c.7891C>A (p.Leu2631Met)
|
rs876660528
|
|
|
NM_000059.4(BRCA2):c.7897G>A (p.Ala2633Thr)
|
|
|
|
NM_000059.4(BRCA2):c.7900A>G (p.Met2634Val)
|
rs1207483065
|
|
|
NM_000059.4(BRCA2):c.7900del (p.Met2634fs)
|
rs1566244864
|
|
|
NM_000059.4(BRCA2):c.7903G>C (p.Glu2635Gln)
|
|
|
|
NM_000059.4(BRCA2):c.7909G>C (p.Ala2637Pro)
|
rs1593924159
|
|
|
NM_000059.4(BRCA2):c.7910C>T (p.Ala2637Val)
|
rs730881561
|
|
|
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer)
|
rs80359686
|
|
|
NM_000059.4(BRCA2):c.7915C>G (p.Pro2639Ala)
|
rs80359017
|
|
|
NM_000059.4(BRCA2):c.7922A>G (p.Glu2641Gly)
|
|
|
|
NM_000059.4(BRCA2):c.7925T>G (p.Phe2642Cys)
|
rs1287337540
|
|
|
NM_000059.4(BRCA2):c.793+12G>A
|
rs1555281482
|
|
|
NM_000059.4(BRCA2):c.7933_7943delinsCTATTAGCA (p.Arg2645fs)
|
rs2137577594
|
|
|
NM_000059.4(BRCA2):c.7934del (p.Arg2645fs)
|
rs80359688
|
|
|
NM_000059.4(BRCA2):c.793G>A (p.Gly265Arg)
|
rs1403242422
|
|
|
NM_000059.4(BRCA2):c.794-2A>G
|
rs1566222053
|
|
|
NM_000059.4(BRCA2):c.7946del (p.Pro2649fs)
|
rs863224828
|
|
|
NM_000059.4(BRCA2):c.7951A>G (p.Arg2651Gly)
|
rs1555286865
|
|
|
NM_000059.4(BRCA2):c.7953G>T (p.Arg2651Ser)
|
rs752351454
|
|
|
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met)
|
rs1466452770
|
|
|
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)
|
rs80359022
|
|
|
NM_000059.4(BRCA2):c.7958T>G (p.Leu2653Arg)
|
rs80359022
|
|
|
NM_000059.4(BRCA2):c.7963del (p.Gln2655fs)
|
rs397507945
|
|
|
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)
|
rs80359024
|
|
|
NM_000059.4(BRCA2):c.7966C>G (p.Leu2656Val)
|
rs2072748978
|
|
|
NM_000059.4(BRCA2):c.7974C>A (p.Tyr2658Ter)
|
rs80359025
|
|
|
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly)
|
rs80359026
|
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
|
NM_000059.4(BRCA2):c.7977-1G>C
|
rs81002874
|
|
|
NM_000059.4(BRCA2):c.7977-2A>G
|
rs276174899
|
|
|
NM_000059.4(BRCA2):c.7977-6T>C
|
|
|
|
NM_000059.4(BRCA2):c.7979_7991del (p.Tyr2660fs)
|
rs730881614
|
|
|
NM_000059.4(BRCA2):c.7985C>A (p.Thr2662Lys)
|
rs431825362
|
|
|
NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys)
|
rs80359030
|
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
|
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)
|
rs80359800
|
|
|
NM_000059.4(BRCA2):c.7997G>C (p.Arg2666Thr)
|
rs80359033
|
|
|
NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter)
|
rs276174900
|
|
|
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)
|
rs143999963
|
|
|
NM_000059.4(BRCA2):c.8014A>C (p.Ile2672Leu)
|
rs80359037
|
|
|
NM_000059.4(BRCA2):c.8021del (p.Lys2674fs)
|
rs397507952
|
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
|
NM_000059.4(BRCA2):c.8032A>G (p.Arg2678Gly)
|
rs80359039
|
|
|
NM_000059.4(BRCA2):c.8040C>G (p.Asp2680Glu)
|
rs876660013
|
|
|
NM_000059.4(BRCA2):c.8051A>G (p.Lys2684Arg)
|
rs80359043
|
|
|
NM_000059.4(BRCA2):c.8053dup (p.Thr2685fs)
|
rs397507958
|
|
|
NM_000059.4(BRCA2):c.8056C>T (p.Leu2686Phe)
|
rs397507960
|
|
|
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter)
|
rs80359046
|
|
|
NM_000059.4(BRCA2):c.8070_8071dup (p.Ser2691fs)
|
rs397507962
|
|
|
NM_000059.4(BRCA2):c.8074del (p.Asp2692fs)
|
|
|
|
NM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter)
|
rs80359050
|
|
|
NM_000059.4(BRCA2):c.80_82del (p.Ile27del)
|
rs1566215674
|
|
|
NM_000059.4(BRCA2):c.8104G>A (p.Glu2702Lys)
|
rs186224762
|
|
|
NM_000059.4(BRCA2):c.8129G>A (p.Ser2710Asn)
|
rs2072756770
|
|
|
NM_000059.4(BRCA2):c.8135A>T (p.Asp2712Val)
|
rs80359057
|
|
|
NM_000059.4(BRCA2):c.8138C>A (p.Thr2713Asn)
|
rs994319321
|
|
|
NM_000059.4(BRCA2):c.8140C>G (p.Gln2714Glu)
|
rs80359058
|
|
|
NM_000059.4(BRCA2):c.8162T>G (p.Leu2721Arg)
|
rs80359061
|
|
|
NM_000059.4(BRCA2):c.8164dup (p.Thr2722fs)
|
rs2137581286
|
|
|
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)
|
rs80359062
|
|
|
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile)
|
rs80359062
|
|
|
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly)
|
rs41293513
|
|
|
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val)
|
rs41293513
|
|
|
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu)
|
rs1060502432
|
|
|
NM_000059.4(BRCA2):c.8174_8185delinsTT (p.Trp2725fs)
|
rs730881615
|
|
|
NM_000059.4(BRCA2):c.8175G>A (p.Trp2725Ter)
|
rs397507965
|
|
|
NM_000059.4(BRCA2):c.8181del (p.Val2728fs)
|
|
|
|
NM_000059.4(BRCA2):c.8189C>G (p.Ala2730Gly)
|
rs80359067
|
|
|
NM_000059.4(BRCA2):c.8191C>G (p.Gln2731Glu)
|
rs397507966
|
|
|
NM_000059.4(BRCA2):c.8191C>T (p.Gln2731Ter)
|
rs397507966
|
|
|
NM_000059.4(BRCA2):c.8195T>A (p.Leu2732Ter)
|
rs397507967
|
|
|
NM_000059.4(BRCA2):c.8204C>G (p.Pro2735Arg)
|
rs730881564
|
|
|
NM_000059.4(BRCA2):c.8206C>G (p.Leu2736Val)
|
rs1555287042
|
|
|
NM_000059.4(BRCA2):c.8206C>T (p.Leu2736Phe)
|
rs1555287042
|
|
|
NM_000059.4(BRCA2):c.8206dup (p.Leu2736fs)
|
rs397507396
|
|
|
NM_000059.4(BRCA2):c.8213C>G (p.Ala2738Gly)
|
rs1555287046
|
|
|
NM_000059.4(BRCA2):c.8228_8229insA (p.Arg2744fs)
|
rs397507970
|
|
|
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del)
|
rs80359698
|
|
|
NM_000059.4(BRCA2):c.8239G>A (p.Val2747Ile)
|
rs397507398
|
|
|
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser)
|
rs56371528
|
|
|
NM_000059.4(BRCA2):c.8247_8248del (p.Lys2750fs)
|
rs80359701
|
|
|
NM_000059.4(BRCA2):c.8253dup (p.Ile2752fs)
|
rs80359704
|
|
|
NM_000059.4(BRCA2):c.8255TTC[1] (p.Leu2753del)
|
rs397507971
|
|
|
NM_000059.4(BRCA2):c.8261A>C (p.His2754Pro)
|
|
|
|
NM_000059.4(BRCA2):c.8261A>G (p.His2754Arg)
|
rs1555287066
|
|
|
NM_000059.4(BRCA2):c.8264G>T (p.Gly2755Val)
|
rs876658830
|
|
|
NM_000059.4(BRCA2):c.8293T>C (p.Cys2765Arg)
|
rs768247528
|
|
|
NM_000059.4(BRCA2):c.8294G>A (p.Cys2765Tyr)
|
rs112343538
|
|
|
NM_000059.4(BRCA2):c.8303T>A (p.Leu2768His)
|
rs587782732
|
|
|
NM_000059.4(BRCA2):c.8308del (p.Ala2770fs)
|
rs398122601
|
|
|
NM_000059.4(BRCA2):c.830A>G (p.Asn277Ser)
|
|
|
|
NM_000059.4(BRCA2):c.8317T>C (p.Ser2773Pro)
|
rs143761565
|
|
|
NM_000059.4(BRCA2):c.8317_8330del (p.Ser2773fs)
|
rs397507976
|
|
|
NM_000059.4(BRCA2):c.8323A>C (p.Met2775Leu)
|
rs767209209
|
|
|
NM_000059.4(BRCA2):c.8324T>C (p.Met2775Thr)
|
rs80359073
|
|
|
NM_000059.4(BRCA2):c.8331+1G>A
|
rs81002837
|
|
|
NM_000059.4(BRCA2):c.8331+2T>C
|
rs398122602
|
|
|
NM_000059.4(BRCA2):c.8331_8332del (p.Lys2777fs)
|
rs397507978
|
|
|
NM_000059.4(BRCA2):c.8332-1G>A
|
rs397507979
|
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
|
NM_000059.4(BRCA2):c.8332-2A>G
|
rs587782774
|
|
|
NM_000059.4(BRCA2):c.8332-3C>G
|
rs587782093
|
|
|
NM_000059.4(BRCA2):c.8337del (p.Ala2780fs)
|
|
|
|
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile)
|
rs1434821822
|
|
|
NM_000059.4(BRCA2):c.8344A>G (p.Ser2782Gly)
|
rs2137596450
|
|
|
NM_000059.4(BRCA2):c.8348dup (p.Arg2784fs)
|
rs397507980
|
|
|
NM_000059.4(BRCA2):c.8354C>T (p.Pro2785Leu)
|
rs786202034
|
|
|
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu)
|
rs80359083
|
|
|
NM_000059.4(BRCA2):c.8393C>G (p.Pro2798Arg)
|
rs276174906
|
|
|
NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs)
|
rs276174907
|
|
|
NM_000059.4(BRCA2):c.8395del (p.Arg2799fs)
|
rs80359709
|
|
|
NM_000059.4(BRCA2):c.8396G>A (p.Arg2799Lys)
|
|
|
|
NM_000059.4(BRCA2):c.8396G>C (p.Arg2799Thr)
|
rs397507982
|
|
|
NM_000059.4(BRCA2):c.8414_8416delinsC (p.Leu2805fs)
|
rs397507402
|
|
|
NM_000059.4(BRCA2):c.8415ATC[1] (p.Ser2807del)
|
rs1060502398
|
|
|
NM_000059.4(BRCA2):c.8415_8416del (p.Leu2805fs)
|
rs397507402
|
|
|
NM_000059.4(BRCA2):c.8415dup (p.Ser2806fs)
|
rs397507985
|
|
|
NM_000059.4(BRCA2):c.8429G>A (p.Ser2810Asn)
|
rs2072821561
|
|
|
NM_000059.4(BRCA2):c.842A>G (p.Asp281Gly)
|
rs1555281610
|
|
|
NM_000059.4(BRCA2):c.8434GGA[1] (p.Gly2813del)
|
rs397507986
|
|
|
NM_000059.4(BRCA2):c.8476T>C (p.Tyr2826His)
|
|
|
|
NM_000059.4(BRCA2):c.8477A>G (p.Tyr2826Cys)
|
rs1555287666
|
|
|
NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter)
|
rs776353983
|
|
|
NM_000059.4(BRCA2):c.8484A>G (p.Ile2828Met)
|
rs950154005
|
|
|
NM_000059.4(BRCA2):c.8487+1G>A
|
rs81002798
|
|
|
NM_000059.4(BRCA2):c.8487+3A>G
|
rs81002806
|
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
|
NM_000059.4(BRCA2):c.8488-1G>T
|
rs397507404
|
|
|
NM_000059.4(BRCA2):c.8488-3C>A
|
rs1566249158
|
|
|
NM_000059.4(BRCA2):c.8489G>A (p.Trp2830Ter)
|
rs80359101
|
|
|
NM_000059.4(BRCA2):c.8490G>A (p.Trp2830Ter)
|
rs587776351
|
|
|
NM_000059.4(BRCA2):c.8491A>T (p.Met2831Leu)
|
rs760663398
|
|
|
NM_000059.4(BRCA2):c.8494G>C (p.Glu2832Gln)
|
rs876658951
|
|
|
NM_000059.4(BRCA2):c.8497A>G (p.Lys2833Glu)
|
|
|
|
NM_000059.4(BRCA2):c.8498A>C (p.Lys2833Thr)
|
|
|
|
NM_000059.4(BRCA2):c.8507C>T (p.Ser2836Phe)
|
rs863224599
|
|
|
NM_000059.4(BRCA2):c.8507_8508dup (p.Gly2837fs)
|
rs2137599900
|
|
|
NM_000059.4(BRCA2):c.8527A>C (p.Asn2843His)
|
rs876660403
|
|
|
NM_000059.4(BRCA2):c.8528del (p.Asn2843fs)
|
rs397507989
|
|
|
NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys)
|
rs755783122
|
|
|
NM_000059.4(BRCA2):c.8532_8533del (p.Glu2846fs)
|
rs397507990
|
|
|
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs)
|
rs80359714
|
|
|
NM_000059.4(BRCA2):c.8548_8551del (p.Glu2850fs)
|
rs397507406
|
|
|
NM_000059.4(BRCA2):c.8548del (p.Glu2850fs)
|
rs1555287766
|
|
|
NM_000059.4(BRCA2):c.8572C>A (p.Gln2858Lys)
|
rs80359112
|
|
|
NM_000059.4(BRCA2):c.8575C>T (p.Gln2859Ter)
|
rs80359115
|
|
|
NM_000059.4(BRCA2):c.8576A>G (p.Gln2859Arg)
|
|
|
|
NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter)
|
rs1131692035
|
|
|
NM_000059.4(BRCA2):c.8581A>T (p.Arg2861Ter)
|
rs398122608
|
|
|
NM_000059.4(BRCA2):c.8591C>T (p.Ala2864Val)
|
rs80359116
|
|
|
NM_000059.4(BRCA2):c.8594dup (p.Leu2865fs)
|
rs80359721
|
|
|
NM_000059.4(BRCA2):c.8601dup (p.Lys2868Ter)
|
rs397507995
|
|
|
NM_000059.4(BRCA2):c.8614G>A (p.Glu2872Lys)
|
rs1555287788
|
|
|
NM_000059.4(BRCA2):c.8627A>C (p.His2876Pro)
|
rs1060502470
|
|
|
NM_000059.4(BRCA2):c.8632+2T>C
|
rs397507998
|
|
|
NM_000059.4(BRCA2):c.8632+2T>G
|
rs397507998
|
|
|
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys)
|
rs398122710
|
|
|
NM_000059.4(BRCA2):c.8633-1259A>G
|
|
|
|
NM_000059.4(BRCA2):c.8633-14T>C
|
rs769984654
|
|
|
NM_000059.4(BRCA2):c.8633-1G>A
|
rs398122711
|
|
|
NM_000059.4(BRCA2):c.8633-24_8634del
|
rs886040945
|
|
|
NM_000059.4(BRCA2):c.8633-4T>A
|
rs397507407
|
|
|
NM_000059.4(BRCA2):c.8639_8640del (p.Thr2880fs)
|
rs886038184
|
|
|
NM_000059.4(BRCA2):c.8639_8643del (p.Thr2880fs)
|
rs2137612282
|
|
|
NM_000059.4(BRCA2):c.8642_8643insTT (p.Thr2881_Lys2882insTer)
|
rs397507999
|
|
|
NM_000059.4(BRCA2):c.8644A>T (p.Lys2882Ter)
|
rs397508000
|
|
|
NM_000059.4(BRCA2):c.8646_8649del (p.Lys2882fs)
|
rs397508001
|
|
|
NM_000059.4(BRCA2):c.8650del (p.Tyr2884fs)
|
rs2072874502
|
|
|
NM_000059.4(BRCA2):c.8655dup (p.Pro2886fs)
|
rs1135401927
|
|
|
NM_000059.4(BRCA2):c.8668C>G (p.Leu2890Val)
|
rs80359127
|
|
|
NM_000059.4(BRCA2):c.8672C>G (p.Thr2891Arg)
|
rs1401510742
|
|
|
NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs)
|
rs80359724
|
|
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
rs397507409
|
|
|
NM_000059.4(BRCA2):c.8678A>T (p.Gln2893Leu)
|
|
|
|
NM_000059.4(BRCA2):c.8680C>T (p.Gln2894Ter)
|
rs397508002
|
|
|
NM_000059.4(BRCA2):c.8680del (p.Gln2894fs)
|
rs397507410
|
|
|
NM_000059.4(BRCA2):c.8690del (p.Ala2897fs)
|
|
|
|
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter)
|
rs397507411
|
|
|
NM_000059.4(BRCA2):c.8697A>G (p.Gln2899=)
|
rs786203707
|
|
|
NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val)
|
rs398122712
|
|
|
NM_000059.4(BRCA2):c.8702G>T (p.Gly2901Val)
|
rs80359129
|
|
|
NM_000059.4(BRCA2):c.8725A>T (p.Lys2909Ter)
|
rs2072875960
|
|
|
NM_000059.4(BRCA2):c.8732del (p.Ala2911fs)
|
rs2137613348
|
|
|
NM_000059.4(BRCA2):c.8740C>G (p.Pro2914Ala)
|
rs876660226
|
|
|
NM_000059.4(BRCA2):c.8754+11A>C
|
rs397508005
|
|
|
NM_000059.4(BRCA2):c.8754+1G>A
|
rs397508006
|
|
|
NM_000059.4(BRCA2):c.8754+1G>T
|
rs397508006
|
|
|
NM_000059.4(BRCA2):c.8754+4A>G
|
rs81002893
|
|
|
NM_000059.4(BRCA2):c.8754+4A>T
|
rs81002893
|
|
|
NM_000059.4(BRCA2):c.8755-11A>G
|
rs1371032020
|
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
|
NM_000059.4(BRCA2):c.8767G>A (p.Glu2923Lys)
|
rs1334458965
|
|
|
NM_000059.4(BRCA2):c.8773C>T (p.Gln2925Ter)
|
rs80359134
|
|
|
NM_000059.4(BRCA2):c.8789A>G (p.Asn2930Ser)
|
rs397508008
|
|
|
NM_000059.4(BRCA2):c.8814T>A (p.Asp2938Glu)
|
|
|
|
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn)
|
rs397507414
|
|
|
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)
|
rs397508010
|
|
|
NM_000059.4(BRCA2):c.8819A>G (p.Lys2940Arg)
|
rs200157227
|
|
|
NM_000059.4(BRCA2):c.8820_8823del (p.Gln2941fs)
|
rs397508011
|
|
|
NM_000059.4(BRCA2):c.8824G>A (p.Ala2942Thr)
|
rs80359139
|
|
|
NM_000059.4(BRCA2):c.8825C>A (p.Ala2942Asp)
|
rs373227180
|
|
|
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val)
|
rs373227180
|
|
|
NM_000059.4(BRCA2):c.8827C>T (p.Gln2943Ter)
|
rs2137619580
|
|
|
NM_000059.4(BRCA2):c.8827del (p.Gln2943fs)
|
rs2137619587
|
|
|
NM_000059.4(BRCA2):c.8834A>G (p.Gln2945Arg)
|
rs587781800
|
|
|
NM_000059.4(BRCA2):c.8839G>T (p.Glu2947Ter)
|
rs398122715
|
|
|
NM_000059.4(BRCA2):c.8844T>G (p.Ile2948Met)
|
rs1064793691
|
|
|
NM_000059.4(BRCA2):c.8850_8851dup (p.Ala2951fs)
|
rs886040796
|
|
|
NM_000059.4(BRCA2):c.8851G>T (p.Ala2951Ser)
|
rs11571769
|
|
|
NM_000059.4(BRCA2):c.8863G>A (p.Ala2955Thr)
|
rs1566252676
|
|
|
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)
|
rs80359140
|
|
|
NM_000059.4(BRCA2):c.8881G>A (p.Gly2961Ser)
|
rs878853614
|
|
|
NM_000059.4(BRCA2):c.8890dup (p.Arg2964fs)
|
rs397508017
|
|
|
NM_000059.4(BRCA2):c.8900_8901del (p.Thr2967fs)
|
rs1593936840
|
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
|
NM_000059.4(BRCA2):c.8912dup (p.Leu2972fs)
|
rs80359731
|
|
|
NM_000059.4(BRCA2):c.8917del (p.Arg2973fs)
|
|
|
|
NM_000059.4(BRCA2):c.891_899delinsGATACTTCAG (p.Thr298fs)
|
rs276174914
|
|
|
NM_000059.4(BRCA2):c.8928C>G (p.Ser2976Arg)
|
rs771267741
|
|
|
NM_000059.4(BRCA2):c.8930del (p.Tyr2977fs)
|
rs869320799
|
|
|
NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter)
|
rs80359144
|
|
|
NM_000059.4(BRCA2):c.8935A>T (p.Lys2979Ter)
|
rs2072903033
|
|
|
NM_000059.4(BRCA2):c.8940del (p.Glu2981fs)
|
rs80359732
|
|
|
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys)
|
rs139052578
|
|
|
NM_000059.4(BRCA2):c.8944A>C (p.Lys2982Gln)
|
rs80359145
|
|
|
NM_000059.4(BRCA2):c.8950del (p.Ser2984fs)
|
rs397508022
|
|
|
NM_000059.4(BRCA2):c.8953+1G>T
|
rs81002882
|
|
|
NM_000059.4(BRCA2):c.8953+5G>T
|
rs397508023
|
|
|
NM_000059.4(BRCA2):c.8954-15T>G
|
rs886040948
|
|
|
NM_000059.4(BRCA2):c.8954-1G>A
|
rs1555288435
|
|
|
NM_000059.4(BRCA2):c.8954-1_8955delinsAA
|
rs276174916
|
|
|
NM_000059.4(BRCA2):c.8954-2A>C
|
rs1135401928
|
|
|
NM_000059.4(BRCA2):c.8954-5A>G
|
rs886040949
|
|
|
NM_000059.4(BRCA2):c.8954-5_8954-2del
|
rs587782878
|
|
|
NM_000059.4(BRCA2):c.8956dup (p.Ile2986fs)
|
rs397508024
|
|
|
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs)
|
rs80359734
|
|
|
NM_000059.4(BRCA2):c.8969G>A (p.Trp2990Ter)
|
rs80359148
|
|
|
NM_000059.4(BRCA2):c.8982_8985dup (p.Leu2996fs)
|
rs1555288449
|
|
|
NM_000059.4(BRCA2):c.898G>A (p.Val300Ile)
|
rs878853616
|
|
|
NM_000059.4(BRCA2):c.8995_8996del (p.Leu2999fs)
|
rs2137622356
|
|
|
NM_000059.4(BRCA2):c.8T>C (p.Ile3Thr)
|
rs1555280096
|
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
|
NM_000059.4(BRCA2):c.9007G>T (p.Gly3003Ter)
|
rs397508029
|
|
|
NM_000059.4(BRCA2):c.9008G>A (p.Gly3003Glu)
|
rs1566253139
|
|
|
NM_000059.4(BRCA2):c.9010A>G (p.Lys3004Glu)
|
rs954148397
|
|
|
NM_000059.4(BRCA2):c.9010_9013del (p.Lys3004fs)
|
|
|
|
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg)
|
rs587782779
|
|
|
NM_000059.4(BRCA2):c.9014_9017dup (p.Tyr3006Ter)
|
rs1555288462
|
|
|
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp)
|
rs397507416
|
|
|
NM_000059.4(BRCA2):c.9018_9019insTCTA (p.Arg3007fs)
|
rs397508030
|
|
|
NM_000059.4(BRCA2):c.9019A>G (p.Arg3007Gly)
|
rs397507417
|
|
|
NM_000059.4(BRCA2):c.9025del (p.Tyr3009fs)
|
rs786203575
|
|
|
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs)
|
rs80359741
|
|
|
NM_000059.4(BRCA2):c.9027del (p.His3010fs)
|
rs80359742
|
|
|
NM_000059.4(BRCA2):c.9029A>G (p.His3010Arg)
|
rs1566253193
|
|
|
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter)
|
rs80359156
|
|
|
NM_000059.4(BRCA2):c.9049A>G (p.Lys3017Glu)
|
rs1555288473
|
|
|
NM_000059.4(BRCA2):c.9052A>G (p.Ser3018Gly)
|
rs431825373
|
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
|
NM_000059.4(BRCA2):c.9053G>A (p.Ser3018Asn)
|
rs398122720
|
|
|
NM_000059.4(BRCA2):c.906dup (p.Ser303fs)
|
|
|
|
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr)
|
rs587781493
|
|
|
NM_000059.4(BRCA2):c.9073_9078del (p.Ile3025_Gln3026del)
|
rs2137623346
|
|
|
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)
|
rs80359159
|
|
|
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro)
|
rs80359161
|
|
|
NM_000059.4(BRCA2):c.9094_9097del (p.Lys3032fs)
|
rs397507419
|
|
|
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs)
|
rs397507419
|
|
|
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)
|
rs397507419
|
|
|
NM_000059.4(BRCA2):c.9099T>C (p.Thr3033=)
|
rs876658635
|
|
|
NM_000059.4(BRCA2):c.9100C>T (p.Gln3034Ter)
|
rs80359163
|
|
|
NM_000059.4(BRCA2):c.9100dup (p.Gln3034fs)
|
rs397508036
|
|
|
NM_000059.4(BRCA2):c.9102G>T (p.Gln3034His)
|
|
|
|
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)
|
rs80359165
|
|
|
NM_000059.4(BRCA2):c.9104A>G (p.Tyr3035Cys)
|
rs80359165
|
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
|
NM_000059.4(BRCA2):c.9113dup (p.Pro3039fs)
|
rs2072911261
|
|
|
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu)
|
rs80359167
|
|
|
NM_000059.4(BRCA2):c.9117+1G>A
|
rs81002802
|
|
|
NM_000059.4(BRCA2):c.9117+2T>A
|
rs397508038
|
|
|
NM_000059.4(BRCA2):c.9118-1G>C
|
rs886040950
|
|
|
NM_000059.4(BRCA2):c.9118-5T>A
|
rs879255299
|
|
|
NM_000059.4(BRCA2):c.9119T>C (p.Val3040Ala)
|
rs587781606
|
|
|
NM_000059.4(BRCA2):c.9135A>T (p.Leu3045Phe)
|
|
|
|
NM_000059.4(BRCA2):c.9147C>G (p.Tyr3049Ter)
|
rs886040823
|
|
|
NM_000059.4(BRCA2):c.9159G>C (p.Glu3053Asp)
|
rs1289660997
|
|
|
NM_000059.4(BRCA2):c.9160C>T (p.Pro3054Ser)
|
rs786204070
|
|
|
NM_000059.4(BRCA2):c.9162C>G (p.Pro3054=)
|
rs778426874
|
|
|
NM_000059.4(BRCA2):c.9163del (p.Leu3055fs)
|
rs2072913259
|
|
|
NM_000059.4(BRCA2):c.9175A>G (p.Lys3059Glu)
|
rs80359174
|
|
|
NM_000059.4(BRCA2):c.9177A>C (p.Lys3059Asn)
|
rs201561974
|
|
|
NM_000059.4(BRCA2):c.9182T>A (p.Leu3061Ter)
|
rs80359175
|
|
|
NM_000059.4(BRCA2):c.9190G>T (p.Asp3064Tyr)
|
rs80359177
|
|
|
NM_000059.4(BRCA2):c.9195_9196delinsAT (p.Phe3065_Gln3066delinsLeuTer)
|
rs876659047
|
|
|
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)
|
rs80359180
|
|
|
NM_000059.4(BRCA2):c.91T>G (p.Trp31Gly)
|
rs80359182
|
|
|
NM_000059.4(BRCA2):c.9206G>T (p.Cys3069Phe)
|
rs587782091
|
|
|
NM_000059.4(BRCA2):c.9209C>T (p.Ser3070Phe)
|
rs747837583
|
|
|
NM_000059.4(BRCA2):c.9211G>A (p.Glu3071Lys)
|
|
|
|
NM_000059.4(BRCA2):c.9213G>C (p.Glu3071Asp)
|
|
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
|
NM_000059.4(BRCA2):c.9221dup (p.Ile3075fs)
|
|
|
|
NM_000059.4(BRCA2):c.9246dup (p.Lys3083fs)
|
rs886038189
|
|
|
NM_000059.4(BRCA2):c.9252_9253del (p.Lys3084fs)
|
|
|
|
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs)
|
rs276174918
|
|
|
NM_000059.4(BRCA2):c.9253A>G (p.Thr3085Ala)
|
|
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
|
NM_000059.4(BRCA2):c.9256_9256+1delinsTA
|
rs587781422
|
|
|
NM_000059.4(BRCA2):c.9257-1G>C
|
rs81002889
|
|
|
NM_000059.4(BRCA2):c.9257-2A>G
|
rs886040954
|
|
|
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala)
|
rs574271678
|
|
|
NM_000059.4(BRCA2):c.9258_9262del (p.Leu3087fs)
|
|
|
|
NM_000059.4(BRCA2):c.925del (p.Ser309fs)
|
rs886038058
|
|
|
NM_000059.4(BRCA2):c.9262dup (p.Ala3088fs)
|
rs397508042
|
|
|
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)
|
rs80359195
|
|
|
NM_000059.4(BRCA2):c.927del (p.Leu310fs)
|
rs886040828
|
|
|
NM_000059.4(BRCA2):c.9285C>A (p.Asp3095Glu)
|
rs80359198
|
|
|
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu)
|
rs80359198
|
|
|
NM_000059.4(BRCA2):c.9286G>A (p.Glu3096Lys)
|
rs80359199
|
|
|
NM_000059.4(BRCA2):c.9290G>A (p.Cys3097Tyr)
|
rs730881570
|
|
|
NM_000059.4(BRCA2):c.9291T>A (p.Cys3097Ter)
|
rs397508044
|
|
|
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp)
|
rs1555289516
|
|
|
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)
|
rs397508045
|
|
|
NM_000059.4(BRCA2):c.9301C>G (p.Leu3101Val)
|
rs80359202
|
|
|
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg)
|
rs28897758
|
|
|
NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter)
|
rs80359205
|
|
|
NM_000059.4(BRCA2):c.931T>C (p.Cys311Arg)
|
rs61754140
|
|
|
NM_000059.4(BRCA2):c.931del (p.Cys311fs)
|
rs2137466012
|
|
|
NM_000059.4(BRCA2):c.9324_9325insATTA (p.Leu3109fs)
|
rs397508046
|
|
|
NM_000059.4(BRCA2):c.9325C>T (p.Leu3109Phe)
|
rs1593199703
|
|
|
NM_000059.4(BRCA2):c.9329A>C (p.Asn3110Thr)
|
|
|
|
NM_000059.4(BRCA2):c.9329dup (p.Asn3110fs)
|
rs1405341259
|
|
|
NM_000059.4(BRCA2):c.9331_9335delinsCCT (p.Glu3111fs)
|
rs886040831
|
|
|
NM_000059.4(BRCA2):c.9337A>G (p.Ile3113Val)
|
rs1566258935
|
|
|
NM_000059.4(BRCA2):c.9340A>G (p.Ile3114Val)
|
rs1555289545
|
|
|
NM_000059.4(BRCA2):c.9345G>C (p.Lys3115Asn)
|
rs2137652892
|
|
|
NM_000059.4(BRCA2):c.9349C>T (p.His3117Tyr)
|
rs2073022451
|
|
|
NM_000059.4(BRCA2):c.9352_9353del (p.Met3118fs)
|
rs786203318
|
|
|
NM_000059.4(BRCA2):c.9356T>A (p.Leu3119Ter)
|
rs80359207
|
|
|
NM_000059.4(BRCA2):c.9356T>G (p.Leu3119Ter)
|
rs80359207
|
|
|
NM_000059.4(BRCA2):c.9356_9357delinsG (p.Met3118_Leu3119insTer)
|
rs397508048
|
|
|
NM_000059.4(BRCA2):c.9361G>T (p.Ala3121Ser)
|
|
|
|
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr)
|
rs587782313
|
|
|
NM_000059.4(BRCA2):c.9372C>A (p.Asn3124Lys)
|
rs1420566833
|
|
|
NM_000059.4(BRCA2):c.9373C>T (p.Leu3125Phe)
|
rs1555289566
|
|
|
NM_000059.4(BRCA2):c.9377A>C (p.Gln3126Pro)
|
rs397507426
|
|
|
NM_000059.4(BRCA2):c.9377A>G (p.Gln3126Arg)
|
rs397507426
|
|
|
NM_000059.4(BRCA2):c.9380G>A (p.Trp3127Ter)
|
rs80359211
|
|
|
NM_000059.4(BRCA2):c.9391T>C (p.Ser3131Pro)
|
rs398122613
|
|
|
NM_000059.4(BRCA2):c.9401G>C (p.Gly3134Ala)
|
rs80359215
|
|
|
NM_000059.4(BRCA2):c.9401G>T (p.Gly3134Val)
|
rs80359215
|
|
|
NM_000059.4(BRCA2):c.9401del (p.Gly3134fs)
|
rs80359759
|
|
|
NM_000059.4(BRCA2):c.9403del
|
rs80359760
|
|
|
NM_000059.4(BRCA2):c.9409dup (p.Thr3137fs)
|
|
|
|
NM_000059.4(BRCA2):c.9413dup (p.Leu3138fs)
|
rs876659435
|
|
|
NM_000059.4(BRCA2):c.9414_9417dup (p.Ala3140fs)
|
|
|
|
NM_000059.4(BRCA2):c.9425A>G (p.Asp3142Gly)
|
rs80359216
|
|
|
NM_000059.4(BRCA2):c.9430del (p.Ser3144fs)
|
rs80359762
|
|
|
NM_000059.4(BRCA2):c.9431del (p.Ser3144fs)
|
rs397508051
|
|
|
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
|
NM_000059.4(BRCA2):c.9443C>T (p.Ala3148Val)
|
rs587781514
|
|
|
NM_000059.4(BRCA2):c.9458G>T (p.Gly3153Val)
|
rs80359220
|
|
|
NM_000059.4(BRCA2):c.945_947del (p.Cys315_Arg316delinsTer)
|
|
|
|
NM_000059.4(BRCA2):c.9461A>G (p.His3154Arg)
|
rs2073024987
|
|
|
NM_000059.4(BRCA2):c.9490A>G (p.Asn3164Asp)
|
rs876658597
|
|
|
NM_000059.4(BRCA2):c.9498dup (p.Glu3167Ter)
|
rs397508055
|
|
|
NM_000059.4(BRCA2):c.9501+1G>A
|
rs397508058
|
|
|
NM_000059.4(BRCA2):c.9502-1G>C
|
|
|
|
NM_000059.4(BRCA2):c.9502-28A>G
|
rs397508059
|
|
|
NM_000059.4(BRCA2):c.9502-2A>C
|
rs81002868
|
|
|
NM_000059.4(BRCA2):c.9502A>T (p.Asn3168Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.9513_9515del (p.Leu3172del)
|
rs80359768
|
|
|
NM_000059.4(BRCA2):c.9542T>G (p.Met3181Arg)
|
rs80359225
|
|
|
NM_000059.4(BRCA2):c.9565C>G (p.Pro3189Ala)
|
rs772385867
|
|
|
NM_000059.4(BRCA2):c.9569del (p.Lys3190fs)
|
|
|
|
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)
|
rs55939572
|
|
|
NM_000059.4(BRCA2):c.956dup (p.Asn319fs)
|
rs80359770
|
|
|
NM_000059.4(BRCA2):c.9580_9581del (p.Pro3194fs)
|
rs80359771
|
|
|
NM_000059.4(BRCA2):c.9581dup (p.Thr3195fs)
|
|
|
|
NM_000059.4(BRCA2):c.9584_9586delinsAT (p.Thr3195fs)
|
rs2073041280
|
|
|
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter)
|
rs80359230
|
|
|
NM_000059.4(BRCA2):c.9606G>C (p.Pro3202=)
|
rs755890067
|
|
|
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)
|
rs276174926
|
|
|
NM_000059.4(BRCA2):c.9617A>C (p.Gln3206Pro)
|
rs397507433
|
|
|
NM_000059.4(BRCA2):c.961C>T (p.Gln321Ter)
|
rs80359234
|
|
|
NM_000059.4(BRCA2):c.9628G>T (p.Gly3210Cys)
|
|
|
|
NM_000059.4(BRCA2):c.9632C>A (p.Thr3211Lys)
|
rs730881583
|
|
|
NM_000059.4(BRCA2):c.9650T>A (p.Met3217Lys)
|
rs1441735974
|
|
|
NM_000059.4(BRCA2):c.9666del (p.Cys3222fs)
|
rs80359772
|
|
|
NM_000059.4(BRCA2):c.9668A>G (p.Glu3223Gly)
|
|
|
|
NM_000059.4(BRCA2):c.9676del (p.Tyr3226fs)
|
rs80359774
|
|
|
NM_000059.4(BRCA2):c.9682del (p.Ser3228fs)
|
rs398122618
|
|
|
NM_000059.4(BRCA2):c.9685C>T (p.Pro3229Ser)
|
rs1064793542
|
|
|
NM_000059.4(BRCA2):c.9689del (p.Leu3230fs)
|
rs755175776
|
|
|
NM_000059.4(BRCA2):c.9699T>A (p.Cys3233Ter)
|
rs746413844
|
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
|
NM_000059.4(BRCA2):c.9705_9706insG (p.Lys3236fs)
|
rs397508064
|
|
|
NM_000059.4(BRCA2):c.9707A>G (p.Lys3236Arg)
|
rs980577419
|
|
|
NM_000059.4(BRCA2):c.9739C>T (p.Gln3247Ter)
|
rs886040849
|
|
|
NM_000059.4(BRCA2):c.9742A>G (p.Met3248Val)
|
rs876659778
|
|
|
NM_000059.4(BRCA2):c.9748T>A (p.Ser3250Thr)
|
rs1173590589
|
|
|
NM_000059.4(BRCA2):c.9748dup (p.Ser3250fs)
|
rs886040850
|
|
|
NM_000059.4(BRCA2):c.9749C>T (p.Ser3250Leu)
|
|
|
|
NM_000059.4(BRCA2):c.9777del (p.Ile3259fs)
|
rs1593201815
|
|
|
NM_000059.4(BRCA2):c.9783C>G (p.Asp3261Glu)
|
|
|
|
NM_000059.4(BRCA2):c.9801G>C (p.Lys3267Asn)
|
rs1555289963
|
|
|
NM_000059.4(BRCA2):c.9805A>G (p.Arg3269Gly)
|
rs1555289964
|
|
|
NM_000059.4(BRCA2):c.9816T>G (p.Asp3272Glu)
|
rs56111359
|
|
|
NM_000059.4(BRCA2):c.9857T>A (p.Ile3286Asn)
|
rs398122624
|
|
|
NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter)
|
rs80359247
|
|
|
NM_000059.4(BRCA2):c.9901C>T (p.Pro3301Ser)
|
rs1566261153
|
|
|
NM_000059.4(BRCA2):c.9906G>C (p.Arg3302Ser)
|
|
|
|
NM_000059.4(BRCA2):c.9906_9907delinsTT (p.Arg3302_Ser3303delinsSerCys)
|
rs876659538
|
|
|
NM_000059.4(BRCA2):c.9919A>G (p.Lys3307Glu)
|
|
|
|
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)
|
rs4987049
|
|
|
NM_000059.4(BRCA2):c.9931C>T (p.Pro3311Ser)
|
rs1275047772
|
|
|
NM_000059.4(BRCA2):c.993_994dup (p.Ile332fs)
|
rs80359777
|
|
|
NM_000059.4(BRCA2):c.9941A>G (p.Lys3314Arg)
|
rs1566261206
|
|
|
NM_000059.4(BRCA2):c.9945del (p.Glu3316fs)
|
rs431825381
|
|
|
NM_000059.4(BRCA2):c.9946del (p.Glu3316fs)
|
|
|
|
NM_000059.4(BRCA2):c.994del (p.Ile332fs)
|
rs80359777
|
|
|
NM_000059.4(BRCA2):c.9956C>A (p.Ser3319Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.9956CTC[1] (p.Pro3320del)
|
rs745685382
|
|
|
NM_000059.4(BRCA2):c.998dup (p.His334fs)
|
rs397507437
|
|
|
NM_000059.4(BRCA2):c.9998T>C (p.Leu3333Pro)
|
rs1555290016
|
|
|
NM_000059.4:c.5007_5008insAlu
|
|
|
|
NM_000125.4(ESR1):c.30T>C (p.Ser10=)
|
rs2077647
|
|
|
NM_000125.4(ESR1):c.908A>G (p.Lys303Arg)
|
rs796065354
|
|
|
NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln)
|
rs755747479
|
|
|
NM_000136.3(FANCC):c.1155-14T>G
|
rs2134552606
|
|
|
NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu)
|
rs550462055
|
|
|
NM_000136.3(FANCC):c.1264C>A (p.Leu422Met)
|
rs756716463
|
|
|
NM_000136.3(FANCC):c.1330-19_1330-10del
|
rs1389222142
|
|
|
NM_000136.3(FANCC):c.1485G>A (p.Leu495=)
|
rs56082100
|
|
|
NM_000136.3(FANCC):c.166-165_250+3del
|
rs2136090574
|
|
|
NM_000136.3(FANCC):c.213G>T (p.Leu71Phe)
|
rs2136091002
|
|
|
NM_000136.3(FANCC):c.541G>C (p.Ala181Pro)
|
rs2135428686
|
|
|
NM_000136.3(FANCC):c.697T>C (p.Ser233Pro)
|
rs1827537931
|
|
|
NM_000136.3(FANCC):c.760A>G (p.Met254Val)
|
rs757294568
|
|
|
NM_000136.3(FANCC):c.997-9C>G
|
rs774886992
|
|
|
NM_000143.4(FH):c.1243A>G (p.Asn415Asp)
|
rs1659748903
|
|
|
NM_000179.3(MSH6):c.-4C>T
|
rs1114167784
|
|
|
NM_000179.3(MSH6):c.1037C>G (p.Ser346Cys)
|
rs567785169
|
|
|
NM_000179.3(MSH6):c.1233G>A (p.Arg411=)
|
rs554843104
|
|
|
NM_000179.3(MSH6):c.1572_1573del (p.Tyr524_Ser525delinsTer)
|
rs1114167702
|
|
|
NM_000179.3(MSH6):c.1752T>C (p.Thr584=)
|
rs1114167777
|
|
|
NM_000179.3(MSH6):c.2132C>T (p.Pro711Leu)
|
rs2104390270
|
|
|
NM_000179.3(MSH6):c.24C>T (p.Tyr8=)
|
rs746306598
|
|
|
NM_000179.3(MSH6):c.2503C>G (p.Gln835Glu)
|
rs63751321
|
|
|
NM_000179.3(MSH6):c.2505G>C (p.Gln835His)
|
rs863224328
|
|
|
NM_000179.3(MSH6):c.251C>T (p.Ala84Val)
|
rs878853717
|
|
|
NM_000179.3(MSH6):c.2561_2562delinsTT (p.Lys854Ile)
|
rs587780673
|
|
|
NM_000179.3(MSH6):c.3162C>T (p.Ile1054=)
|
rs149605979
|
|
|
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)
|
rs63750998
|
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
|
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)
|
rs63750442
|
|
|
NM_000179.3(MSH6):c.339C>T (p.His113=)
|
rs886056141
|
|
|
NM_000179.3(MSH6):c.347A>G (p.Asp116Gly)
|
rs1553410255
|
|
|
NM_000179.3(MSH6):c.3646+5G>A
|
rs1669974239
|
|
|
NM_000179.3(MSH6):c.3647-6T>C
|
rs182871847
|
|
|
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)
|
rs1553333072
|
|
|
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)
|
rs202066386
|
|
|
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)
|
rs63751319
|
|
|
NM_000179.3(MSH6):c.3969T>G (p.Phe1323Leu)
|
rs1057520473
|
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
|
NM_000179.3(MSH6):c.4001+2TAAC[4]
|
rs267608132
|
|
|
NM_000179.3(MSH6):c.432C>T (p.Ser144=)
|
rs1046304919
|
|
|
NM_000179.3(MSH6):c.442T>C (p.Leu148=)
|
rs2104111846
|
|
|
NM_000179.3(MSH6):c.467C>T (p.Ser156Leu)
|
rs63749873
|
|
|
NM_000179.3(MSH6):c.597C>T (p.Pro199=)
|
rs1553411498
|
|
|
NM_000179.3(MSH6):c.628-13C>G
|
rs538280815
|
|
|
NM_000179.3(MSH6):c.652A>T (p.Lys218Ter)
|
rs587779315
|
|
|
NM_000179.3(MSH6):c.741del (p.Lys247fs)
|
rs267608041
|
|
|
NM_000179.3(MSH6):c.957G>A (p.Thr319=)
|
rs375210430
|
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTA
|
rs535965616
|
|
|
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu)
|
rs63750726
|
|
|
NM_000249.4(MLH1):c.2020G>A (p.Glu674Lys)
|
rs755577490
|
|
|
NM_000249.4(MLH1):c.2091C>T (p.Leu697=)
|
rs536488280
|
|
|
NM_000249.4(MLH1):c.2155A>G (p.Ile719Val)
|
rs754225520
|
|
|
NM_000249.4(MLH1):c.2247A>G (p.Leu749=)
|
rs786202209
|
|
|
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys)
|
rs587779008
|
|
|
NM_000249.4(MLH1):c.393del (p.Asp132fs)
|
rs2081922847
|
|
|
NM_000249.4(MLH1):c.772T>C (p.Phe258Leu)
|
rs2125823165
|
|
|
NM_000249.4(MLH1):c.864A>C (p.Thr288=)
|
rs1457205659
|
|
|
NM_000249.4(MLH1):c.927C>T (p.Pro309=)
|
rs63749896
|
|
|
NM_000249.4(MLH1):c.954C>A (p.His318Gln)
|
rs146777069
|
|
|
NM_000251.3(MSH2):c.128A>T (p.Tyr43Phe)
|
rs17217723
|
|
|
NM_000251.3(MSH2):c.1299G>A (p.Leu433=)
|
rs1573519281
|
|
|
NM_000251.3(MSH2):c.1321A>G (p.Thr441Ala)
|
rs587779086
|
|
|
NM_000251.3(MSH2):c.1327C>G (p.Leu443Val)
|
rs876659906
|
|
|
NM_000251.3(MSH2):c.1661+3T>G
|
rs1064793688
|
|
|
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)
|
rs63750508
|
|
|
NM_000251.3(MSH2):c.1A>C (p.Met1Leu)
|
rs267607911
|
|
|
NM_000251.3(MSH2):c.2029A>G (p.Thr677Ala)
|
rs1553369013
|
|
|
NM_000251.3(MSH2):c.204del (p.Pro69fs)
|
rs63750199
|
|
|
NM_000251.3(MSH2):c.2064_2065delinsAA (p.Met688_Ala689delinsIleThr)
|
rs2104371537
|
|
|
NM_000251.3(MSH2):c.2147A>G (p.Asp716Gly)
|
rs2104376248
|
|
|
NM_000251.3(MSH2):c.2165T>C (p.Val722Ala)
|
rs2104377193
|
|
|
NM_000251.3(MSH2):c.2210+11_2210+22del
|
rs730881782
|
|
|
NM_000251.3(MSH2):c.229_230del (p.Ser77fs)
|
rs63749848
|
|
|
NM_000251.3(MSH2):c.2401C>T (p.His801Tyr)
|
rs1573574512
|
|
|
NM_000251.3(MSH2):c.2439G>C (p.Met813Ile)
|
rs587781678
|
|
|
NM_000251.3(MSH2):c.2484dup (p.His829fs)
|
rs1553370324
|
|
|
NM_000251.3(MSH2):c.2510C>G (p.Pro837Arg)
|
rs1573578602
|
|
|
NM_000251.3(MSH2):c.2516A>C (p.His839Pro)
|
rs63750027
|
|
|
NM_000251.3(MSH2):c.2572G>A (p.Gly858Arg)
|
rs754533481
|
|
|
NM_000251.3(MSH2):c.2684C>T (p.Pro895Leu)
|
rs786203553
|
|
|
NM_000251.3(MSH2):c.2697G>T (p.Met899Ile)
|
rs878853813
|
|
|
NM_000251.3(MSH2):c.2717T>G (p.Ile906Arg)
|
rs587780687
|
|
|
NM_000251.3(MSH2):c.387_388del (p.Gln130fs)
|
rs63750924
|
|
|
NM_000251.3(MSH2):c.424T>G (p.Ser142Ala)
|
rs1064795714
|
|
|
NM_000251.3(MSH2):c.482T>C (p.Val161Ala)
|
rs63750126
|
|
|
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)
|
rs372619120
|
|
|
NM_000251.3(MSH2):c.792+1G>C
|
rs267607934
|
|
|
NM_000251.3(MSH2):c.836T>C (p.Leu279Pro)
|
rs1024743168
|
|
|
NM_000251.3(MSH2):c.942+14_942+29del
|
rs11309117
|
|
|
NM_000251.3(MSH2):c.942+22_942+29del
|
rs11309117
|
|
|
NM_000251.3(MSH2):c.942+26_942+29del
|
rs11309117
|
|
|
NM_000264.5(PTCH1):c.110G>C (p.Gly37Ala)
|
rs748780206
|
|
|
NM_000264.5(PTCH1):c.2987C>G (p.Thr996Ser)
|
rs1839125790
|
|
|
NM_000277.3(PAH):c.1159T>C (p.Tyr387His)
|
rs62517194
|
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
|
NM_000314.8(PTEN):c.1083T>C (p.Ser361=)
|
rs2132289564
|
|
|
NM_000314.8(PTEN):c.128A>G (p.Glu43Gly)
|
|
|
|
NM_000314.8(PTEN):c.204C>A (p.Tyr68Ter)
|
rs773176120
|
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
|
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro)
|
rs1064793243
|
|
|
NM_000314.8(PTEN):c.492+1del
|
rs1564830522
|
|
|
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer)
|
rs146650273
|
|
|
NM_000314.8(PTEN):c.959dup (p.Leu320fs)
|
|
|
|
NM_000314.8(PTEN):c.966A>G (p.Lys322=)
|
rs786201392
|
|
|
NM_000435.3(NOTCH3):c.5161T>A (p.Trp1721Arg)
|
rs869025230
|
|
|
NM_000455.5(STK11):c.1045GAGGAC[3] (p.349ED[3])
|
rs762810203
|
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
|
NM_000455.5(STK11):c.1284G>C (p.Ser428=)
|
rs369097329
|
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
|
NM_000455.5(STK11):c.735-10C>T
|
rs553975112
|
|
|
NM_000455.5(STK11):c.96C>G (p.Thr32=)
|
rs79175212
|
|
|
NM_000465.3(BARD1):c.1315-?_*(1_?)dup
|
|
|
|
NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met)
|
|
|
|
NM_000465.3(BARD1):c.1569-?_*3030+?del
|
|
|
|
NM_000465.3(BARD1):c.1903+5_1903+6ins27
|
|
|
|
NM_000465.4(BARD1):c.*119G>A
|
rs1378645134
|
|
|
NM_000465.4(BARD1):c.*122_*123del
|
rs1310441861
|
|
|
NM_000465.4(BARD1):c.*136_*138dup
|
rs113789798
|
|
|
NM_000465.4(BARD1):c.*137_*138dup
|
rs113789798
|
|
|
NM_000465.4(BARD1):c.*138del
|
rs113789798
|
|
|
NM_000465.4(BARD1):c.*1A>G
|
|
|
|
NM_000465.4(BARD1):c.*2T>A
|
|
|
|
NM_000465.4(BARD1):c.-107G>T
|
rs1574870750
|
|
|
NM_000465.4(BARD1):c.-1_1insTCCCG (p.Met1fs)
|
rs1696478939
|
|
|
NM_000465.4(BARD1):c.1000A>G (p.Lys334Glu)
|
rs1694972991
|
|
|
NM_000465.4(BARD1):c.1000_1001insC (p.Lys334fs)
|
|
|
|
NM_000465.4(BARD1):c.1002G>T (p.Lys334Asn)
|
rs1574818027
|
|
|
NM_000465.4(BARD1):c.1002del (p.Arg335fs)
|
rs1694972839
|
|
|
NM_000465.4(BARD1):c.1003A>T (p.Arg335Ter)
|
rs1694972567
|
|
|
NM_000465.4(BARD1):c.1003del (p.Arg335fs)
|
|
|
|
NM_000465.4(BARD1):c.1004G>T (p.Arg335Ile)
|
|
|
|
NM_000465.4(BARD1):c.1005A>C (p.Arg335Ser)
|
rs1574818013
|
|
|
NM_000465.4(BARD1):c.1005A>G (p.Arg335=)
|
rs1574818013
|
|
|
NM_000465.4(BARD1):c.1006T>A (p.Cys336Ser)
|
|
|
|
NM_000465.4(BARD1):c.1006T>C (p.Cys336Arg)
|
rs752869298
|
|
|
NM_000465.4(BARD1):c.1006T>G (p.Cys336Gly)
|
rs752869298
|
|
|
NM_000465.4(BARD1):c.1008T>C (p.Cys336=)
|
rs1574817982
|
|
|
NM_000465.4(BARD1):c.100T>A (p.Trp34Arg)
|
rs955904953
|
|
|
NM_000465.4(BARD1):c.100T>C (p.Trp34Arg)
|
rs955904953
|
|
|
NM_000465.4(BARD1):c.100dup (p.Trp34fs)
|
rs1553628410
|
|
|
NM_000465.4(BARD1):c.1010_1011delinsAT (p.Arg337Asn)
|
rs1559424267
|
|
|
NM_000465.4(BARD1):c.1012A>G (p.Thr338Ala)
|
rs2106109251
|
|
|
NM_000465.4(BARD1):c.1013C>G (p.Thr338Ser)
|
rs587781313
|
|
|
NM_000465.4(BARD1):c.1013C>T (p.Thr338Ile)
|
|
|
|
NM_000465.4(BARD1):c.1014del (p.Ser339fs)
|
rs1064793682
|
|
|
NM_000465.4(BARD1):c.1015A>T (p.Ser339Cys)
|
rs1694970561
|
|
|
NM_000465.4(BARD1):c.1016G>C (p.Ser339Thr)
|
rs201261729
|
|
|
NM_000465.4(BARD1):c.1016G>T (p.Ser339Ile)
|
rs201261729
|
|
|
NM_000465.4(BARD1):c.1017C>T (p.Ser339=)
|
|
|
|
NM_000465.4(BARD1):c.1018A>G (p.Ile340Val)
|
|
|
|
NM_000465.4(BARD1):c.1018A>T (p.Ile340Phe)
|
rs878853994
|
|
|
NM_000465.4(BARD1):c.101G>A (p.Trp34Ter)
|
|
|
|
NM_000465.4(BARD1):c.101G>C (p.Trp34Ser)
|
rs876659387
|
|
|
NM_000465.4(BARD1):c.101G>T (p.Trp34Leu)
|
|
|
|
NM_000465.4(BARD1):c.1021dup (p.Leu341fs)
|
rs1553622300
|
|
|
NM_000465.4(BARD1):c.1023G>A (p.Leu341=)
|
rs1553622298
|
|
|
NM_000465.4(BARD1):c.1023del (p.Ser342fs)
|
rs876660061
|
|
|
NM_000465.4(BARD1):c.1024A>C (p.Ser342Arg)
|
rs1574817878
|
|
|
NM_000465.4(BARD1):c.1024A>G (p.Ser342Gly)
|
rs1574817878
|
|
|
NM_000465.4(BARD1):c.1026C>G (p.Ser342Arg)
|
|
|
|
NM_000465.4(BARD1):c.1026C>T (p.Ser342=)
|
|
|
|
NM_000465.4(BARD1):c.1027A>C (p.Thr343Pro)
|
rs2106109159
|
|
|
NM_000465.4(BARD1):c.1027A>G (p.Thr343Ala)
|
rs2106109159
|
|
|
NM_000465.4(BARD1):c.1028C>G (p.Thr343Ser)
|
rs201032007
|
|
|
NM_000465.4(BARD1):c.1029C>A (p.Thr343=)
|
rs35513316
|
|
|
NM_000465.4(BARD1):c.102G>A (p.Trp34Ter)
|
rs879254280
|
|
|
NM_000465.4(BARD1):c.1031G>A (p.Ser344Asn)
|
rs1559424187
|
|
|
NM_000465.4(BARD1):c.1031G>C (p.Ser344Thr)
|
rs1559424187
|
|
|
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.1036G>A (p.Asp346Asn)
|
|
|
|
NM_000465.4(BARD1):c.1036G>T (p.Asp346Tyr)
|
rs1694968440
|
|
|
NM_000465.4(BARD1):c.1037A>G (p.Asp346Gly)
|
|
|
|
NM_000465.4(BARD1):c.1037A>T (p.Asp346Val)
|
rs1694968313
|
|
|
NM_000465.4(BARD1):c.1037dup (p.Asp346fs)
|
|
|
|
NM_000465.4(BARD1):c.1038T>C (p.Asp346=)
|
rs1574817811
|
|
|
NM_000465.4(BARD1):c.103G>A (p.Ala35Thr)
|
rs587782865
|
|
|
NM_000465.4(BARD1):c.103G>T (p.Ala35Ser)
|
|
|
|
NM_000465.4(BARD1):c.103del (p.Ala35fs)
|
|
|
|
NM_000465.4(BARD1):c.103dup (p.Ala35fs)
|
|
|
|
NM_000465.4(BARD1):c.1040T>C (p.Phe347Ser)
|
rs1559424172
|
|
|
NM_000465.4(BARD1):c.1040T>G (p.Phe347Cys)
|
rs1559424172
|
|
|
NM_000465.4(BARD1):c.1045A>C (p.Lys349Gln)
|
rs1401955290
|
|
|
NM_000465.4(BARD1):c.1048C>T (p.Gln350Ter)
|
rs2106109048
|
|
|
NM_000465.4(BARD1):c.104C>A (p.Ala35Asp)
|
rs786203646
|
|
|
NM_000465.4(BARD1):c.104C>G (p.Ala35Gly)
|
rs786203646
|
|
|
NM_000465.4(BARD1):c.104C>T (p.Ala35Val)
|
rs786203646
|
|
|
NM_000465.4(BARD1):c.1050A>G (p.Gln350=)
|
rs1060501277
|
|
|
NM_000465.4(BARD1):c.1050A>T (p.Gln350His)
|
rs1060501277
|
|
|
NM_000465.4(BARD1):c.1050_1053delinsGACC (p.Gln350_Thr351=)
|
|
|
|
NM_000465.4(BARD1):c.1051A>G (p.Thr351Ala)
|
|
|
|
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.1053_1054delinsCA (p.Val352Met)
|
rs1553622282
|
|
|
NM_000465.4(BARD1):c.1053_1054inv (p.Val352Leu)
|
|
|
|
NM_000465.4(BARD1):c.1054G>T (p.Val352Leu)
|
rs587782475
|
|
|
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.1057C>T (p.Pro353Ser)
|
rs1553622277
|
|
|
NM_000465.4(BARD1):c.1059C>A (p.Pro353=)
|
rs368649242
|
|
|
NM_000465.4(BARD1):c.105C>T (p.Ala35=)
|
rs1031199399
|
|
|
NM_000465.4(BARD1):c.105_135del (p.His36fs)
|
|
|
|
NM_000465.4(BARD1):c.1060T>A (p.Ser354Thr)
|
rs863224670
|
|
|
NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter)
|
rs786202559
|
|
|
NM_000465.4(BARD1):c.1062A>C (p.Ser354=)
|
rs1057521964
|
|
|
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.1066A>T (p.Asn356Tyr)
|
rs1574817638
|
|
|
NM_000465.4(BARD1):c.1068T>A (p.Asn356Lys)
|
rs1423687196
|
|
|
NM_000465.4(BARD1):c.1068_1071del (p.Ile357fs)
|
rs2106108885
|
|
|
NM_000465.4(BARD1):c.1069del (p.Ile357fs)
|
|
|
|
NM_000465.4(BARD1):c.1069dup (p.Ile357fs)
|
rs2106108903
|
|
|
NM_000465.4(BARD1):c.106C>G (p.His36Asp)
|
rs2106171164
|
|
|
NM_000465.4(BARD1):c.1070T>C (p.Ile357Thr)
|
rs587781555
|
|
|
NM_000465.4(BARD1):c.1070T>G (p.Ile357Arg)
|
rs587781555
|
|
|
NM_000465.4(BARD1):c.1071A>C (p.Ile357=)
|
rs786202366
|
|
|
NM_000465.4(BARD1):c.1073C>T (p.Pro358Leu)
|
rs1553622261
|
|
|
NM_000465.4(BARD1):c.1074A>G (p.Pro358=)
|
rs1553622258
|
|
|
NM_000465.4(BARD1):c.1075T>C (p.Leu359=)
|
|
|
|
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)
|
rs28997575
|
|
|
NM_000465.4(BARD1):c.1077G>T (p.Leu359Phe)
|
rs864622283
|
|
|
NM_000465.4(BARD1):c.1078C>G (p.Pro360Ala)
|
rs1210369014
|
|
|
NM_000465.4(BARD1):c.1078C>T (p.Pro360Ser)
|
rs1210369014
|
|
|
NM_000465.4(BARD1):c.1079C>G (p.Pro360Arg)
|
|
|
|
NM_000465.4(BARD1):c.107A>C (p.His36Pro)
|
rs864622635
|
|
|
NM_000465.4(BARD1):c.107A>G (p.His36Arg)
|
rs864622635
|
|
|
NM_000465.4(BARD1):c.1080T>C (p.Pro360=)
|
rs2106108809
|
|
|
NM_000465.4(BARD1):c.1084T>A (p.Cys362Ser)
|
rs141351035
|
|
|
NM_000465.4(BARD1):c.1086T>A (p.Cys362Ter)
|
|
|
|
NM_000465.4(BARD1):c.1087T>A (p.Ser363Thr)
|
rs1064794985
|
|
|
NM_000465.4(BARD1):c.1088C>G (p.Ser363Cys)
|
|
|
|
NM_000465.4(BARD1):c.1088C>T (p.Ser363Phe)
|
rs1694962993
|
|
|
NM_000465.4(BARD1):c.108C>T (p.His36=)
|
|
|
|
NM_000465.4(BARD1):c.1091C>T (p.Ser364Leu)
|
rs200168806
|
|
|
NM_000465.4(BARD1):c.1092A>G (p.Ser364=)
|
|
|
|
NM_000465.4(BARD1):c.1095A>G (p.Pro365=)
|
|
|
|
NM_000465.4(BARD1):c.1098T>G (p.Pro366=)
|
|
|
|
NM_000465.4(BARD1):c.1098_1099delinsAC (p.Ser367Pro)
|
rs1064794052
|
|
|
NM_000465.4(BARD1):c.1099T>A (p.Ser367Thr)
|
rs1694961543
|
|
|
NM_000465.4(BARD1):c.109A>G (p.Ser37Gly)
|
rs1064793565
|
|
|
NM_000465.4(BARD1):c.1101A>C (p.Ser367=)
|
rs876659194
|
|
|
NM_000465.4(BARD1):c.1101A>G (p.Ser367=)
|
rs876659194
|
|
|
NM_000465.4(BARD1):c.1101A>T (p.Ser367=)
|
|
|
|
NM_000465.4(BARD1):c.1104C>T (p.Cys368=)
|
rs371147849
|
|
|
NM_000465.4(BARD1):c.1105A>G (p.Lys369Glu)
|
rs2106108670
|
|
|
NM_000465.4(BARD1):c.1106A>G (p.Lys369Arg)
|
rs2106108664
|
|
|
NM_000465.4(BARD1):c.1107A>T (p.Lys369Asn)
|
rs876660211
|
|
|
NM_000465.4(BARD1):c.1108C>A (p.Arg370Ser)
|
rs587781596
|
|
|
NM_000465.4(BARD1):c.1109G>C (p.Arg370Pro)
|
rs730881416
|
|
|
NM_000465.4(BARD1):c.1109G>T (p.Arg370Leu)
|
rs730881416
|
|
|
NM_000465.4(BARD1):c.1113A>T (p.Lys371Asn)
|
rs2106108630
|
|
|
NM_000465.4(BARD1):c.1114G>C (p.Val372Leu)
|
rs1574817297
|
|
|
NM_000465.4(BARD1):c.1116T>C (p.Val372=)
|
|
|
|
NM_000465.4(BARD1):c.1118G>A (p.Gly373Asp)
|
rs568305044
|
|
|
NM_000465.4(BARD1):c.1118G>C (p.Gly373Ala)
|
|
|
|
NM_000465.4(BARD1):c.1119T>G (p.Gly373=)
|
|
|
|
NM_000465.4(BARD1):c.111T>A (p.Ser37Arg)
|
rs2106171106
|
|
|
NM_000465.4(BARD1):c.1120G>C (p.Gly374Arg)
|
|
|
|
NM_000465.4(BARD1):c.1121G>A (p.Gly374Asp)
|
|
|
|
NM_000465.4(BARD1):c.1122T>G (p.Gly374=)
|
rs2106108577
|
|
|
NM_000465.4(BARD1):c.1123A>G (p.Thr375Ala)
|
rs1694959699
|
|
|
NM_000465.4(BARD1):c.1124C>T (p.Thr375Ile)
|
rs1559423874
|
|
|
NM_000465.4(BARD1):c.1124del (p.Thr375fs)
|
|
|
|
NM_000465.4(BARD1):c.1125A>C (p.Thr375=)
|
rs1553622237
|
|
|
NM_000465.4(BARD1):c.1125A>G (p.Thr375=)
|
rs1553622237
|
|
|
NM_000465.4(BARD1):c.1125A>T (p.Thr375=)
|
rs1553622237
|
|
|
NM_000465.4(BARD1):c.1126T>A (p.Ser376Thr)
|
rs1060501279
|
|
|
NM_000465.4(BARD1):c.1126T>G (p.Ser376Ala)
|
rs1060501279
|
|
|
NM_000465.4(BARD1):c.1128A>G (p.Ser376=)
|
rs1370139675
|
|
|
NM_000465.4(BARD1):c.1128del (p.Arg378fs)
|
|
|
|
NM_000465.4(BARD1):c.1129G>C (p.Gly377Arg)
|
rs1694958957
|
|
|
NM_000465.4(BARD1):c.112C>A (p.Arg38Ser)
|
rs1553628385
|
|
|
NM_000465.4(BARD1):c.112C>G (p.Arg38Gly)
|
rs1553628385
|
|
|
NM_000465.4(BARD1):c.112C>T (p.Arg38Cys)
|
rs1553628385
|
|
|
NM_000465.4(BARD1):c.1131G>A (p.Gly377=)
|
rs1574817193
|
|
|
NM_000465.4(BARD1):c.1131G>C (p.Gly377=)
|
|
|
|
NM_000465.4(BARD1):c.1134G>A (p.Arg378=)
|
rs2229571
|
|
|
NM_000465.4(BARD1):c.1134_1135delinsCG (p.Arg378_Lys379delinsSerGlu)
|
|
|
|
NM_000465.4(BARD1):c.1134_1136delinsC (p.Arg378fs)
|
|
|
|
NM_000465.4(BARD1):c.1135A>G (p.Lys379Glu)
|
rs1060501280
|
|
|
NM_000465.4(BARD1):c.1136A>C (p.Lys379Thr)
|
rs750827325
|
|
|
NM_000465.4(BARD1):c.1136A>G (p.Lys379Arg)
|
rs750827325
|
|
|
NM_000465.4(BARD1):c.1137A>C (p.Lys379Asn)
|
rs1060501306
|
|
|
NM_000465.4(BARD1):c.1137A>T (p.Lys379Asn)
|
|
|
|
NM_000465.4(BARD1):c.1139del (p.Asn380fs)
|
|
|
|
NM_000465.4(BARD1):c.113G>A (p.Arg38His)
|
rs2106171086
|
|
|
NM_000465.4(BARD1):c.113G>C (p.Arg38Pro)
|
|
|
|
NM_000465.4(BARD1):c.1140C>G (p.Asn380Lys)
|
|
|
|
NM_000465.4(BARD1):c.1140C>T (p.Asn380=)
|
rs2106108484
|
|
|
NM_000465.4(BARD1):c.1141A>G (p.Ser381Gly)
|
|
|
|
NM_000465.4(BARD1):c.1142_1162del (p.Ser381_Phe387del)
|
rs1694955246
|
|
|
NM_000465.4(BARD1):c.1144A>G (p.Asn382Asp)
|
rs1463551188
|
|
|
NM_000465.4(BARD1):c.1145A>G (p.Asn382Ser)
|
|
|
|
NM_000465.4(BARD1):c.1146C>T (p.Asn382=)
|
rs2106108465
|
|
|
NM_000465.4(BARD1):c.1146del (p.Asn382fs)
|
|
|
|
NM_000465.4(BARD1):c.1147A>G (p.Met383Val)
|
rs761516178
|
|
|
NM_000465.4(BARD1):c.1147A>T (p.Met383Leu)
|
rs761516178
|
|
|
NM_000465.4(BARD1):c.1147_1148del (p.Met383fs)
|
|
|
|
NM_000465.4(BARD1):c.1148T>C (p.Met383Thr)
|
rs763596413
|
|
|
NM_000465.4(BARD1):c.1148T>G (p.Met383Arg)
|
rs763596413
|
|
|
NM_000465.4(BARD1):c.1149G>A (p.Met383Ile)
|
rs1559423780
|
|
|
NM_000465.4(BARD1):c.1149G>C (p.Met383Ile)
|
rs1559423780
|
|
|
NM_000465.4(BARD1):c.114C>A (p.Arg38=)
|
rs1405786437
|
|
|
NM_000465.4(BARD1):c.114C>G (p.Arg38=)
|
rs1405786437
|
|
|
NM_000465.4(BARD1):c.114C>T (p.Arg38=)
|
rs1405786437
|
|
|
NM_000465.4(BARD1):c.1151C>T (p.Ser384Phe)
|
rs1553622221
|
|
|
NM_000465.4(BARD1):c.1152C>A (p.Ser384=)
|
|
|
|
NM_000465.4(BARD1):c.1152C>G (p.Ser384=)
|
rs368291318
|
|
|
NM_000465.4(BARD1):c.1153G>A (p.Asp385Asn)
|
rs587782436
|
|
|
NM_000465.4(BARD1):c.1153G>T (p.Asp385Tyr)
|
rs587782436
|
|
|
NM_000465.4(BARD1):c.1154A>G (p.Asp385Gly)
|
|
|
|
NM_000465.4(BARD1):c.1155T>C (p.Asp385=)
|
rs2106108419
|
|
|
NM_000465.4(BARD1):c.1156G>A (p.Glu386Lys)
|
rs1553622218
|
|
|
NM_000465.4(BARD1):c.1156G>T (p.Glu386Ter)
|
rs1553622218
|
|
|
NM_000465.4(BARD1):c.1158A>G (p.Glu386=)
|
rs769665688
|
|
|
NM_000465.4(BARD1):c.1160_1164dup (p.Ser391fs)
|
rs2106108347
|
|
|
NM_000465.4(BARD1):c.1160del (p.Phe387fs)
|
rs1553622216
|
|
|
NM_000465.4(BARD1):c.1161C>T (p.Phe387=)
|
rs553790960
|
|
|
NM_000465.4(BARD1):c.1162A>C (p.Ile388Leu)
|
rs1553622215
|
|
|
NM_000465.4(BARD1):c.1162A>G (p.Ile388Val)
|
rs1553622215
|
|
|
NM_000465.4(BARD1):c.1164_1189del (p.Ser389fs)
|
|
|
|
NM_000465.4(BARD1):c.1166G>A (p.Ser389Asn)
|
rs1553622212
|
|
|
NM_000465.4(BARD1):c.1166G>C (p.Ser389Thr)
|
rs1553622212
|
|
|
NM_000465.4(BARD1):c.1168C>A (p.Leu390Ile)
|
rs774439137
|
|
|
NM_000465.4(BARD1):c.1168C>G (p.Leu390Val)
|
rs774439137
|
|
|
NM_000465.4(BARD1):c.1168C>T (p.Leu390Phe)
|
rs774439137
|
|
|
NM_000465.4(BARD1):c.1168_1169insG (p.Leu390fs)
|
|
|
|
NM_000465.4(BARD1):c.1171_1179del (p.Ser391_Gly393del)
|
rs2106108263
|
|
|
NM_000465.4(BARD1):c.1172C>G (p.Ser391Ter)
|
rs878853995
|
|
|
NM_000465.4(BARD1):c.1172C>T (p.Ser391Leu)
|
|
|
|
NM_000465.4(BARD1):c.1174C>A (p.Pro392Thr)
|
rs2106108303
|
|
|
NM_000465.4(BARD1):c.1174C>G (p.Pro392Ala)
|
rs2106108303
|
|
|
NM_000465.4(BARD1):c.1175C>T (p.Pro392Leu)
|
rs1553622210
|
|
|
NM_000465.4(BARD1):c.1176A>G (p.Pro392=)
|
rs1416079033
|
|
|
NM_000465.4(BARD1):c.1177G>A (p.Gly393Ser)
|
rs1553622207
|
|
|
NM_000465.4(BARD1):c.1177_1180dup (p.Thr394fs)
|
rs1559423694
|
|
|
NM_000465.4(BARD1):c.1178G>A (p.Gly393Asp)
|
rs923271294
|
|
|
NM_000465.4(BARD1):c.1178G>C (p.Gly393Ala)
|
rs923271294
|
|
|
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.1181C>T (p.Thr394Ile)
|
rs749378135
|
|
|
NM_000465.4(BARD1):c.1182A>C (p.Thr394=)
|
|
|
|
NM_000465.4(BARD1):c.1182A>T (p.Thr394=)
|
|
|
|
NM_000465.4(BARD1):c.1183C>T (p.Pro395Ser)
|
rs756647439
|
|
|
NM_000465.4(BARD1):c.1186C>G (p.Pro396Ala)
|
rs1426044782
|
|
|
NM_000465.4(BARD1):c.1186C>T (p.Pro396Ser)
|
rs1426044782
|
|
|
NM_000465.4(BARD1):c.1187_1196delinsTTG (p.Pro396fs)
|
rs1694949382
|
|
|
NM_000465.4(BARD1):c.1188T>A (p.Pro396=)
|
|
|
|
NM_000465.4(BARD1):c.1188T>C (p.Pro396=)
|
rs876658498
|
|
|
NM_000465.4(BARD1):c.1188_1189delinsAC (p.Ser397Pro)
|
rs1694952147
|
|
|
NM_000465.4(BARD1):c.1189T>G (p.Ser397Ala)
|
|
|
|
NM_000465.4(BARD1):c.1190C>G (p.Ser397Cys)
|
rs375078644
|
|
|
NM_000465.4(BARD1):c.1194del (p.Thr398_Leu399insTer)
|
|
|
|
NM_000465.4(BARD1):c.1195T>A (p.Leu399Ile)
|
|
|
|
NM_000465.4(BARD1):c.1196T>G (p.Leu399Ter)
|
rs1172609046
|
|
|
NM_000465.4(BARD1):c.1198A>T (p.Ser400Cys)
|
rs867396444
|
|
|
NM_000465.4(BARD1):c.1198AGT[1] (p.Ser403del)
|
|
|
|
NM_000465.4(BARD1):c.1199G>A (p.Ser400Asn)
|
rs1694948749
|
|
|
NM_000465.4(BARD1):c.11A>C (p.Asn4Thr)
|
|
|
|
NM_000465.4(BARD1):c.1200T>C (p.Ser400=)
|
rs876659685
|
|
|
NM_000465.4(BARD1):c.1201A>G (p.Ser401Gly)
|
rs1694948504
|
|
|
NM_000465.4(BARD1):c.1202G>A (p.Ser401Asn)
|
|
|
|
NM_000465.4(BARD1):c.1202G>C (p.Ser401Thr)
|
|
|
|
NM_000465.4(BARD1):c.1203T>G (p.Ser401Arg)
|
rs370553043
|
|
|
NM_000465.4(BARD1):c.1204T>A (p.Ser402Thr)
|
rs1375796276
|
|
|
NM_000465.4(BARD1):c.1204T>C (p.Ser402Pro)
|
rs1375796276
|
|
|
NM_000465.4(BARD1):c.1205C>T (p.Ser402Leu)
|
rs796666047
|
|
|
NM_000465.4(BARD1):c.1206A>G (p.Ser402=)
|
rs786203162
|
|
|
NM_000465.4(BARD1):c.1207A>C (p.Ser403Arg)
|
rs1060501286
|
|
|
NM_000465.4(BARD1):c.1207A>G (p.Ser403Gly)
|
rs1060501286
|
|
|
NM_000465.4(BARD1):c.1208G>A (p.Ser403Asn)
|
rs1553622181
|
|
|
NM_000465.4(BARD1):c.1208G>C (p.Ser403Thr)
|
rs1553622181
|
|
|
NM_000465.4(BARD1):c.1209T>A (p.Ser403Arg)
|
|
|
|
NM_000465.4(BARD1):c.120G>A (p.Ala40=)
|
|
|
|
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.1210del (p.Tyr404fs)
|
rs1694947319
|
|
|
NM_000465.4(BARD1):c.1211A>G (p.Tyr404Cys)
|
rs1559423578
|
|
|
NM_000465.4(BARD1):c.1211dup (p.Tyr404Ter)
|
rs1553622178
|
|
|
NM_000465.4(BARD1):c.1212C>T (p.Tyr404=)
|
|
|
|
NM_000465.4(BARD1):c.1213A>C (p.Arg405=)
|
|
|
|
NM_000465.4(BARD1):c.1215G>A (p.Arg405=)
|
rs1180710928
|
|
|
NM_000465.4(BARD1):c.1216C>G (p.Arg406Gly)
|
rs377153250
|
|
|
NM_000465.4(BARD1):c.1219G>A (p.Val407Met)
|
rs1553622168
|
|
|
NM_000465.4(BARD1):c.121C>T (p.Leu41Phe)
|
rs751665426
|
|
|
NM_000465.4(BARD1):c.1222A>G (p.Met408Val)
|
rs1694946023
|
|
|
NM_000465.4(BARD1):c.1223T>C (p.Met408Thr)
|
rs1553622167
|
|
|
NM_000465.4(BARD1):c.1224G>A (p.Met408Ile)
|
rs1694945753
|
|
|
NM_000465.4(BARD1):c.1224G>C (p.Met408Ile)
|
|
|
|
NM_000465.4(BARD1):c.1224_1227del (p.Met408fs)
|
rs1553622164
|
|
|
NM_000465.4(BARD1):c.1225T>C (p.Ser409Pro)
|
rs2106108006
|
|
|
NM_000465.4(BARD1):c.1227T>C (p.Ser409=)
|
|
|
|
NM_000465.4(BARD1):c.1227_1230del (p.Ser410fs)
|
rs2106107966
|
|
|
NM_000465.4(BARD1):c.1227_1231del (p.Ser410fs)
|
rs1553622160
|
|
|
NM_000465.4(BARD1):c.1229G>T (p.Ser410Ile)
|
rs1694945264
|
|
|
NM_000465.4(BARD1):c.1231C>G (p.Pro411Ala)
|
rs786203825
|
|
|
NM_000465.4(BARD1):c.1231C>T (p.Pro411Ser)
|
rs786203825
|
|
|
NM_000465.4(BARD1):c.1233C>G (p.Pro411=)
|
rs752186689
|
|
|
NM_000465.4(BARD1):c.1233C>T (p.Pro411=)
|
rs752186689
|
|
|
NM_000465.4(BARD1):c.1239A>G (p.Ala413=)
|
rs765212498
|
|
|
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.1240A>C (p.Met414Leu)
|
rs759601398
|
|
|
NM_000465.4(BARD1):c.1240A>G (p.Met414Val)
|
rs759601398
|
|
|
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer)
|
rs1553622145
|
|
|
NM_000465.4(BARD1):c.1242G>A (p.Met414Ile)
|
rs1553622143
|
|
|
NM_000465.4(BARD1):c.1243A>C (p.Lys415Gln)
|
rs1694943608
|
|
|
NM_000465.4(BARD1):c.1243A>G (p.Lys415Glu)
|
rs1694943608
|
|
|
NM_000465.4(BARD1):c.1244A>G (p.Lys415Arg)
|
rs879254118
|
|
|
NM_000465.4(BARD1):c.1245G>A (p.Lys415=)
|
|
|
|
NM_000465.4(BARD1):c.1248G>A (p.Leu416=)
|
rs1426931125
|
|
|
NM_000465.4(BARD1):c.124G>A (p.Asp42Asn)
|
|
|
|
NM_000465.4(BARD1):c.124G>C (p.Asp42His)
|
rs762894716
|
|
|
NM_000465.4(BARD1):c.124G>T (p.Asp42Tyr)
|
rs762894716
|
|
|
NM_000465.4(BARD1):c.1250del (p.Leu417fs)
|
|
|
|
NM_000465.4(BARD1):c.1253C>T (p.Pro418Leu)
|
|
|
|
NM_000465.4(BARD1):c.1254C>A (p.Pro418=)
|
|
|
|
NM_000465.4(BARD1):c.1254C>T (p.Pro418=)
|
|
|
|
NM_000465.4(BARD1):c.1255A>G (p.Asn419Asp)
|
rs199834790
|
|
|
NM_000465.4(BARD1):c.1255_1256del (p.Asn419fs)
|
|
|
|
NM_000465.4(BARD1):c.1256A>C (p.Asn419Thr)
|
|
|
|
NM_000465.4(BARD1):c.1256A>G (p.Asn419Ser)
|
rs776723079
|
|
|
NM_000465.4(BARD1):c.1257T>C (p.Asn419=)
|
rs1574816237
|
|
|
NM_000465.4(BARD1):c.1258A>G (p.Met420Val)
|
rs1694942545
|
|
|
NM_000465.4(BARD1):c.1259T>C (p.Met420Thr)
|
rs786203217
|
|
|
NM_000465.4(BARD1):c.125A>G (p.Asp42Gly)
|
|
|
|
NM_000465.4(BARD1):c.1261G>A (p.Ala421Thr)
|
rs2106107801
|
|
|
NM_000465.4(BARD1):c.1263T>G (p.Ala421=)
|
rs1574816201
|
|
|
NM_000465.4(BARD1):c.1264G>A (p.Val422Met)
|
rs876660910
|
|
|
NM_000465.4(BARD1):c.1264_1267delinsATG (p.Val422fs)
|
rs786203533
|
|
|
NM_000465.4(BARD1):c.1266G>C (p.Val422=)
|
|
|
|
NM_000465.4(BARD1):c.1266G>T (p.Val422=)
|
rs1574816160
|
|
|
NM_000465.4(BARD1):c.1267A>C (p.Lys423Gln)
|
rs201146688
|
|
|
NM_000465.4(BARD1):c.1267A>G (p.Lys423Glu)
|
|
|
|
NM_000465.4(BARD1):c.1267A>T (p.Lys423Ter)
|
|
|
|
NM_000465.4(BARD1):c.1268A>C (p.Lys423Thr)
|
rs749383704
|
|
|
NM_000465.4(BARD1):c.1269A>G (p.Lys423=)
|
|
|
|
NM_000465.4(BARD1):c.126C>T (p.Asp42=)
|
rs2106170963
|
|
|
NM_000465.4(BARD1):c.1270A>C (p.Arg424=)
|
rs1553622123
|
|
|
NM_000465.4(BARD1):c.1270A>G (p.Arg424Gly)
|
rs1553622123
|
|
|
NM_000465.4(BARD1):c.1270del (p.Arg424fs)
|
rs876660911
|
|
|
NM_000465.4(BARD1):c.1271G>T (p.Arg424Ile)
|
rs1559423360
|
|
|
NM_000465.4(BARD1):c.1272A>C (p.Arg424Ser)
|
rs1559423356
|
|
|
NM_000465.4(BARD1):c.1272A>G (p.Arg424=)
|
rs1559423356
|
|
|
NM_000465.4(BARD1):c.1273A>G (p.Asn425Asp)
|
rs2106107709
|
|
|
NM_000465.4(BARD1):c.1274A>G (p.Asn425Ser)
|
rs876659775
|
|
|
NM_000465.4(BARD1):c.1275T>A (p.Asn425Lys)
|
rs2106107701
|
|
|
NM_000465.4(BARD1):c.1276C>A (p.His426Asn)
|
rs786203499
|
|
|
NM_000465.4(BARD1):c.1276_1278del (p.His426del)
|
rs1694939793
|
|
|
NM_000465.4(BARD1):c.1277A>G (p.His426Arg)
|
rs1553622117
|
|
|
NM_000465.4(BARD1):c.1278T>C (p.His426=)
|
rs2106107680
|
|
|
NM_000465.4(BARD1):c.1278_1279del (p.His426fs)
|
rs1694939675
|
|
|
NM_000465.4(BARD1):c.1279A>G (p.Arg427Gly)
|
rs2106107666
|
|
|
NM_000465.4(BARD1):c.127C>G (p.Arg43Gly)
|
rs752871324
|
|
|
NM_000465.4(BARD1):c.127C>T (p.Arg43Cys)
|
rs752871324
|
|
|
NM_000465.4(BARD1):c.1280G>T (p.Arg427Ile)
|
rs876660639
|
|
|
NM_000465.4(BARD1):c.1280GAG[1] (p.Gly428del)
|
rs878853997
|
|
|
NM_000465.4(BARD1):c.1281A>C (p.Arg427Ser)
|
rs1553622109
|
|
|
NM_000465.4(BARD1):c.1281_1284del (p.Gly428fs)
|
rs1553622103
|
|
|
NM_000465.4(BARD1):c.1282G>A (p.Gly428Arg)
|
rs1553622106
|
|
|
NM_000465.4(BARD1):c.1283G>C (p.Gly428Ala)
|
rs1272940739
|
|
|
NM_000465.4(BARD1):c.1284A>G (p.Gly428=)
|
|
|
|
NM_000465.4(BARD1):c.1285G>A (p.Glu429Lys)
|
rs878853998
|
|
|
NM_000465.4(BARD1):c.1286A>C (p.Glu429Ala)
|
rs1559423277
|
|
|
NM_000465.4(BARD1):c.1286A>G (p.Glu429Gly)
|
|
|
|
NM_000465.4(BARD1):c.1287G>A (p.Glu429=)
|
rs537611647
|
|
|
NM_000465.4(BARD1):c.1288A>C (p.Thr430Pro)
|
|
|
|
NM_000465.4(BARD1):c.1288A>G (p.Thr430Ala)
|
rs1574815970
|
|
|
NM_000465.4(BARD1):c.1289C>T (p.Thr430Ile)
|
rs587780015
|
|
|
NM_000465.4(BARD1):c.128G>A (p.Arg43His)
|
rs1060501305
|
|
|
NM_000465.4(BARD1):c.128G>T (p.Arg43Leu)
|
rs1060501305
|
|
|
NM_000465.4(BARD1):c.1290T>A (p.Thr430=)
|
rs1574815943
|
|
|
NM_000465.4(BARD1):c.1291_1292del (p.Leu431fs)
|
|
|
|
NM_000465.4(BARD1):c.1292T>C (p.Leu431Ser)
|
rs1553622095
|
|
|
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.1296C>T (p.Leu432=)
|
|
|
|
NM_000465.4(BARD1):c.1297C>T (p.His433Tyr)
|
rs1574815914
|
|
|
NM_000465.4(BARD1):c.1297_1298insTATTAAGTA (p.His433delinsLeuLeuSerAsn)
|
rs1694936957
|
|
|
NM_000465.4(BARD1):c.12T>C (p.Asn4=)
|
rs1289598310
|
|
|
NM_000465.4(BARD1):c.12T>G (p.Asn4Lys)
|
|
|
|
NM_000465.4(BARD1):c.1300A>G (p.Ile434Val)
|
rs758049210
|
|
|
NM_000465.4(BARD1):c.1303G>T (p.Ala435Ser)
|
|
|
|
NM_000465.4(BARD1):c.1304C>T (p.Ala435Val)
|
rs1574815873
|
|
|
NM_000465.4(BARD1):c.1306_1314+7del
|
rs1694934695
|
|
|
NM_000465.4(BARD1):c.1307_1310del (p.Ser436fs)
|
rs1574815812
|
|
|
NM_000465.4(BARD1):c.1307_1314+11del
|
|
|
|
NM_000465.4(BARD1):c.1308T>A (p.Ser436=)
|
rs786203605
|
|
|
NM_000465.4(BARD1):c.1308T>C (p.Ser436=)
|
|
|
|
NM_000465.4(BARD1):c.1309A>C (p.Ile437Leu)
|
|
|
|
NM_000465.4(BARD1):c.1309A>G (p.Ile437Val)
|
rs764592698
|
|
|
NM_000465.4(BARD1):c.1309_1314del (p.Ile437_Lys438del)
|
|
|
|
NM_000465.4(BARD1):c.130C>G (p.Leu44Val)
|
rs876658807
|
|
|
NM_000465.4(BARD1):c.130C>T (p.Leu44=)
|
rs876658807
|
|
|
NM_000465.4(BARD1):c.1310T>G (p.Ile437Ser)
|
|
|
|
NM_000465.4(BARD1):c.1311T>C (p.Ile437=)
|
rs876659789
|
|
|
NM_000465.4(BARD1):c.1312A>G (p.Lys438Glu)
|
rs754539312
|
|
|
NM_000465.4(BARD1):c.1313A>C (p.Lys438Thr)
|
|
|
|
NM_000465.4(BARD1):c.1314+10T>A
|
|
|
|
NM_000465.4(BARD1):c.1314+12A>G
|
rs2106107413
|
|
|
NM_000465.4(BARD1):c.1314+13C>A
|
rs371830908
|
|
|
NM_000465.4(BARD1):c.1314+16T>C
|
|
|
|
NM_000465.4(BARD1):c.1314+19A>G
|
rs2106107388
|
|
|
NM_000465.4(BARD1):c.1314+1G>A
|
rs753785671
|
|
|
NM_000465.4(BARD1):c.1314+3469G>T
|
|
|
|
NM_000465.4(BARD1):c.1314+4G>A
|
rs1553622081
|
|
|
NM_000465.4(BARD1):c.1314+5G>A
|
rs868089048
|
|
|
NM_000465.4(BARD1):c.1314+5G>T
|
rs868089048
|
|
|
NM_000465.4(BARD1):c.1314+5del
|
rs1060501290
|
|
|
NM_000465.4(BARD1):c.1314+6A>C
|
rs1553622073
|
|
|
NM_000465.4(BARD1):c.1314+6A>G
|
rs1553622073
|
|
|
NM_000465.4(BARD1):c.1314+7T>A
|
|
|
|
NM_000465.4(BARD1):c.1314+7T>G
|
|
|
|
NM_000465.4(BARD1):c.1314+8G>T
|
rs1553622071
|
|
|
NM_000465.4(BARD1):c.1314+9C>A
|
rs2106107424
|
|
|
NM_000465.4(BARD1):c.1314+9C>G
|
|
|
|
NM_000465.4(BARD1):c.1314+9C>T
|
|
|
|
NM_000465.4(BARD1):c.1314G>A (p.Lys438=)
|
|
|
|
NM_000465.4(BARD1):c.1315-10A>C
|
rs1559412159
|
|
|
NM_000465.4(BARD1):c.1315-10A>G
|
|
|
|
NM_000465.4(BARD1):c.1315-10A>T
|
rs1559412159
|
|
|
NM_000465.4(BARD1):c.1315-14G>A
|
rs754486162
|
|
|
NM_000465.4(BARD1):c.1315-14_1315-12del
|
rs1353760975
|
|
|
NM_000465.4(BARD1):c.1315-15T>C
|
|
|
|
NM_000465.4(BARD1):c.1315-18T>C
|
|
|
|
NM_000465.4(BARD1):c.1315-19_1315-18inv
|
|
|
|
NM_000465.4(BARD1):c.1315-20_1315-19delinsTA
|
rs2106081687
|
|
|
NM_000465.4(BARD1):c.1315-23_1315-19delinsCTCCA
|
|
|
|
NM_000465.4(BARD1):c.1315-2A>C
|
rs1316885634
|
|
|
NM_000465.4(BARD1):c.1315-2A>T
|
|
|
|
NM_000465.4(BARD1):c.1315-4405C>T
|
|
|
|
NM_000465.4(BARD1):c.1315-4C>G
|
rs878853999
|
|
|
NM_000465.4(BARD1):c.1315-5T>C
|
rs2106081613
|
|
|
NM_000465.4(BARD1):c.1315-5del
|
rs2106081615
|
|
|
NM_000465.4(BARD1):c.1315-7T>C
|
rs2106081620
|
|
|
NM_000465.4(BARD1):c.1315-8T>C
|
rs1574793100
|
|
|
NM_000465.4(BARD1):c.1316G>A (p.Gly439Asp)
|
rs1694366890
|
|
|
NM_000465.4(BARD1):c.1316G>T (p.Gly439Val)
|
|
|
|
NM_000465.4(BARD1):c.1318G>A (p.Asp440Asn)
|
rs876658999
|
|
|
NM_000465.4(BARD1):c.1319A>G (p.Asp440Gly)
|
rs753446928
|
|
|
NM_000465.4(BARD1):c.1320C>T (p.Asp440=)
|
rs780136325
|
|
|
NM_000465.4(BARD1):c.1321A>G (p.Ile441Val)
|
|
|
|
NM_000465.4(BARD1):c.1322_1323dup (p.Pro442fs)
|
|
|
|
NM_000465.4(BARD1):c.1323dup (p.Pro442fs)
|
rs1694365908
|
|
|
NM_000465.4(BARD1):c.1324C>T (p.Pro442Ser)
|
rs1403432043
|
|
|
NM_000465.4(BARD1):c.1325C>G (p.Pro442Arg)
|
|
|
|
NM_000465.4(BARD1):c.1325C>T (p.Pro442Leu)
|
rs730881417
|
|
|
NM_000465.4(BARD1):c.1325del (p.Pro442fs)
|
rs1060501287
|
|
|
NM_000465.4(BARD1):c.1327T>C (p.Ser443Pro)
|
|
|
|
NM_000465.4(BARD1):c.1328_1329del (p.Ser443fs)
|
rs1694365276
|
|
|
NM_000465.4(BARD1):c.1329T>A (p.Ser443=)
|
rs767154578
|
|
|
NM_000465.4(BARD1):c.1329T>C (p.Ser443=)
|
rs767154578
|
|
|
NM_000465.4(BARD1):c.1329del (p.Val444fs)
|
rs767587416
|
|
|
NM_000465.4(BARD1):c.132G>A (p.Leu44=)
|
|
|
|
NM_000465.4(BARD1):c.1330G>A (p.Val444Ile)
|
rs1694364820
|
|
|
NM_000465.4(BARD1):c.1331_1333del (p.Val444del)
|
rs1553619748
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NM_000465.4(BARD1):c.1332T>C (p.Val444=)
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NM_000465.4(BARD1):c.1333G>A (p.Glu445Lys)
|
rs1553619735
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NM_000465.4(BARD1):c.1335A>C (p.Glu445Asp)
|
rs1574792945
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NM_000465.4(BARD1):c.1335A>G (p.Glu445=)
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NM_000465.4(BARD1):c.1337A>G (p.Tyr446Cys)
|
rs1406008867
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NM_000465.4(BARD1):c.1338C>G (p.Tyr446Ter)
|
rs761702998
|
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NM_000465.4(BARD1):c.1338C>T (p.Tyr446=)
|
rs761702998
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NM_000465.4(BARD1):c.1339_1340insA (p.Leu447fs)
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NM_000465.4(BARD1):c.133G>A (p.Glu45Lys)
|
rs1553628365
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NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
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NM_000465.4(BARD1):c.1342T>C (p.Leu448=)
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NM_000465.4(BARD1):c.1343T>A (p.Leu448Ter)
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NM_000465.4(BARD1):c.1343T>C (p.Leu448Ser)
|
rs1694363292
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NM_000465.4(BARD1):c.1344A>G (p.Leu448=)
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NM_000465.4(BARD1):c.1345C>G (p.Gln449Glu)
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NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter)
|
rs1553619721
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NM_000465.4(BARD1):c.1345del (p.Gln449fs)
|
rs2106081379
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NM_000465.4(BARD1):c.1348A>C (p.Asn450His)
|
rs776756736
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NM_000465.4(BARD1):c.1348_1349delinsCAT (p.Asn450fs)
|
rs1553619713
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NM_000465.4(BARD1):c.1349A>G (p.Asn450Ser)
|
rs1694362231
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NM_000465.4(BARD1):c.1349dup (p.Asn450fs)
|
rs876660390
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NM_000465.4(BARD1):c.1350T>A (p.Asn450Lys)
|
rs876660753
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NM_000465.4(BARD1):c.1350T>C (p.Asn450=)
|
rs876660753
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NM_000465.4(BARD1):c.1350T>G (p.Asn450Lys)
|
rs876660753
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NM_000465.4(BARD1):c.1350dup (p.Gly451fs)
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NM_000465.4(BARD1):c.1352G>A (p.Gly451Glu)
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rs771410310
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NM_000465.4(BARD1):c.1353A>G (p.Gly451=)
|
rs369564500
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NM_000465.4(BARD1):c.1354A>G (p.Ser452Gly)
|
rs2106081294
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NM_000465.4(BARD1):c.1358A>T (p.Asp453Val)
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NM_000465.4(BARD1):c.1359T>C (p.Asp453=)
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NM_000465.4(BARD1):c.135G>A (p.Glu45=)
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NM_000465.4(BARD1):c.135G>C (p.Glu45Asp)
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NM_000465.4(BARD1):c.1360C>A (p.Pro454Thr)
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NM_000465.4(BARD1):c.1360C>T (p.Pro454Ser)
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rs730881408
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NM_000465.4(BARD1):c.1361C>T (p.Pro454Leu)
|
rs772285343
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NM_000465.4(BARD1):c.1363A>G (p.Asn455Asp)
|
rs1694360689
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NM_000465.4(BARD1):c.1366G>T (p.Val456Phe)
|
rs1553619705
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NM_000465.4(BARD1):c.1366_1369delinsCTT (p.Val456fs)
|
rs1694360411
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NM_000465.4(BARD1):c.1369A>G (p.Lys457Glu)
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NM_000465.4(BARD1):c.136A>G (p.Lys46Glu)
|
rs1426560516
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NM_000465.4(BARD1):c.1371dup (p.Asp458fs)
|
rs1553619704
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NM_000465.4(BARD1):c.1373A>G (p.Asp458Gly)
|
rs876660108
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NM_000465.4(BARD1):c.1374C>A (p.Asp458Glu)
|
rs1553619701
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NM_000465.4(BARD1):c.1374C>G (p.Asp458Glu)
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NM_000465.4(BARD1):c.1374C>T (p.Asp458=)
|
rs1553619701
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NM_000465.4(BARD1):c.1375C>A (p.His459Asn)
|
rs2106081184
|
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NM_000465.4(BARD1):c.1375del (p.His459fs)
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NM_000465.4(BARD1):c.1376A>G (p.His459Arg)
|
rs587781621
|
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NM_000465.4(BARD1):c.1378G>A (p.Ala460Thr)
|
rs878854000
|
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NM_000465.4(BARD1):c.1379C>T (p.Ala460Val)
|
rs2106081153
|
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NM_000465.4(BARD1):c.137A>G (p.Lys46Arg)
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NM_000465.4(BARD1):c.137A>T (p.Lys46Met)
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NM_000465.4(BARD1):c.1381G>A (p.Gly461Arg)
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NM_000465.4(BARD1):c.1381G>T (p.Gly461Ter)
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NM_000465.4(BARD1):c.1382G>A (p.Gly461Glu)
|
rs1694358968
|
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NM_000465.4(BARD1):c.1382G>T (p.Gly461Val)
|
rs1694358968
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NM_000465.4(BARD1):c.1384T>C (p.Trp462Arg)
|
rs1694358697
|
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NM_000465.4(BARD1):c.1386G>A (p.Trp462Ter)
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NM_000465.4(BARD1):c.1387A>G (p.Thr463Ala)
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NM_000465.4(BARD1):c.1388C>G (p.Thr463Arg)
|
rs957472472
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NM_000465.4(BARD1):c.1388C>T (p.Thr463Ile)
|
rs957472472
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NM_000465.4(BARD1):c.1389A>C (p.Thr463=)
|
rs748796794
|
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NM_000465.4(BARD1):c.138G>A (p.Lys46=)
|
rs2106170906
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NM_000465.4(BARD1):c.138G>C (p.Lys46Asn)
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NM_000465.4(BARD1):c.1390C>T (p.Pro464Ser)
|
rs1553619693
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NM_000465.4(BARD1):c.1391C>G (p.Pro464Arg)
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NM_000465.4(BARD1):c.1391C>T (p.Pro464Leu)
|
rs2106081070
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NM_000465.4(BARD1):c.1392A>C (p.Pro464=)
|
rs2106081063
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NM_000465.4(BARD1):c.1392A>G (p.Pro464=)
|
rs2106081063
|
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NM_000465.4(BARD1):c.1394T>A (p.Leu465Ter)
|
rs1370053894
|
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NM_000465.4(BARD1):c.1395+10T>A
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NM_000465.4(BARD1):c.1395+11G>C
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NM_000465.4(BARD1):c.1395+12G>C
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NM_000465.4(BARD1):c.1395+13T>A
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NM_000465.4(BARD1):c.1395+13T>G
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NM_000465.4(BARD1):c.1395+14T>A
|
rs781216748
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NM_000465.4(BARD1):c.1395+14T>G
|
rs781216748
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NM_000465.4(BARD1):c.1395+15T>C
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NM_000465.4(BARD1):c.1395+17_1395+20del
|
rs1064795979
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NM_000465.4(BARD1):c.1395+17del
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NM_000465.4(BARD1):c.1395+18A>G
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NM_000465.4(BARD1):c.1395+1G>C
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NM_000465.4(BARD1):c.1395+4G>T
|
rs1025329798
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NM_000465.4(BARD1):c.1395+7G>A
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NM_000465.4(BARD1):c.1395+7G>T
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NM_000465.4(BARD1):c.1395+8T>A
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NM_000465.4(BARD1):c.1395+8T>C
|
rs2106081002
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NM_000465.4(BARD1):c.1395+9C>G
|
rs1574792600
|
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NM_000465.4(BARD1):c.1395G>A (p.Leu465=)
|
rs755655218
|
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NM_000465.4(BARD1):c.1396-10A>C
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NM_000465.4(BARD1):c.1396-10A>G
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NM_000465.4(BARD1):c.1396-10A>T
|
rs1553619373
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NM_000465.4(BARD1):c.1396-11A>C
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NM_000465.4(BARD1):c.1396-11A>T
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NM_000465.4(BARD1):c.1396-13A>G
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NM_000465.4(BARD1):c.1396-14A>C
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NM_000465.4(BARD1):c.1396-14A>G
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NM_000465.4(BARD1):c.1396-15dup
|
rs2106077338
|
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NM_000465.4(BARD1):c.1396-16C>T
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NM_000465.4(BARD1):c.1396-18T>G
|
rs1694280150
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NM_000465.4(BARD1):c.1396-1G>A
|
rs2106077292
|
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NM_000465.4(BARD1):c.1396-1G>C
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NM_000465.4(BARD1):c.1396-1G>T
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NM_000465.4(BARD1):c.1396-22_1396-19del
|
rs765080315
|
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NM_000465.4(BARD1):c.1396-22_1396-20del
|
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NM_000465.4(BARD1):c.1396-27_1396-19del
|
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NM_000465.4(BARD1):c.1396-2A>C
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NM_000465.4(BARD1):c.1396-3T>C
|
rs1574789181
|
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NM_000465.4(BARD1):c.1396-3T>G
|
rs1574789181
|
|
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NM_000465.4(BARD1):c.1396-5A>G
|
rs1559410251
|
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NM_000465.4(BARD1):c.1396-5A>T
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NM_000465.4(BARD1):c.1396-5_1396-2del
|
rs2106077295
|
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NM_000465.4(BARD1):c.1396-6A>G
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NM_000465.4(BARD1):c.1396-8T>G
|
rs1694279608
|
|
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NM_000465.4(BARD1):c.1397A>T (p.His466Leu)
|
|
|
|
NM_000465.4(BARD1):c.1398T>C (p.His466=)
|
rs1694278620
|
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NM_000465.4(BARD1):c.1398T>G (p.His466Gln)
|
rs1694278620
|
|
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NM_000465.4(BARD1):c.139C>G (p.Leu47Val)
|
rs1696454642
|
|
|
NM_000465.4(BARD1):c.13C>A (p.Arg5=)
|
rs766441081
|
|
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NM_000465.4(BARD1):c.13C>T (p.Arg5Trp)
|
rs766441081
|
|
|
NM_000465.4(BARD1):c.1400A>G (p.Glu467Gly)
|
rs993612204
|
|
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NM_000465.4(BARD1):c.1401A>G (p.Glu467=)
|
rs2106077253
|
|
|
NM_000465.4(BARD1):c.1402G>A (p.Ala468Thr)
|
rs1574789137
|
|
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NM_000465.4(BARD1):c.1402G>T (p.Ala468Ser)
|
rs1574789137
|
|
|
NM_000465.4(BARD1):c.1403C>G (p.Ala468Gly)
|
rs886055599
|
|
|
NM_000465.4(BARD1):c.1403C>T (p.Ala468Val)
|
rs886055599
|
|
|
NM_000465.4(BARD1):c.1404T>G (p.Ala468=)
|
|
|
|
NM_000465.4(BARD1):c.1405T>A (p.Cys469Ser)
|
|
|
|
NM_000465.4(BARD1):c.1405T>G (p.Cys469Gly)
|
rs940797218
|
|
|
NM_000465.4(BARD1):c.1406G>C (p.Cys469Ser)
|
rs587782040
|
|
|
NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter)
|
rs1553619349
|
|
|
NM_000465.4(BARD1):c.1407C>T (p.Cys469=)
|
|
|
|
NM_000465.4(BARD1):c.140TGC[1] (p.Leu48del)
|
rs2106170849
|
|
|
NM_000465.4(BARD1):c.1410T>C (p.Asn470=)
|
|
|
|
NM_000465.4(BARD1):c.1411C>T (p.His471Tyr)
|
rs867587389
|
|
|
NM_000465.4(BARD1):c.1412A>C (p.His471Pro)
|
rs1694277099
|
|
|
NM_000465.4(BARD1):c.1412A>G (p.His471Arg)
|
rs1694277099
|
|
|
NM_000465.4(BARD1):c.1413T>C (p.His471=)
|
rs1574789071
|
|
|
NM_000465.4(BARD1):c.1416G>A (p.Gly472=)
|
|
|
|
NM_000465.4(BARD1):c.1419C>G (p.His473Gln)
|
rs786203473
|
|
|
NM_000465.4(BARD1):c.1419C>T (p.His473=)
|
rs786203473
|
|
|
NM_000465.4(BARD1):c.141G>T (p.Leu47=)
|
|
|
|
NM_000465.4(BARD1):c.1420C>T (p.Leu474=)
|
rs1183978479
|
|
|
NM_000465.4(BARD1):c.1421T>C (p.Leu474Pro)
|
rs2106077115
|
|
|
NM_000465.4(BARD1):c.1424A>T (p.Lys475Met)
|
|
|
|
NM_000465.4(BARD1):c.1425G>A (p.Lys475=)
|
rs1057522431
|
|
|
NM_000465.4(BARD1):c.1425G>C (p.Lys475Asn)
|
|
|
|
NM_000465.4(BARD1):c.1426del (p.Lys475_Val476insTer)
|
rs1559410146
|
|
|
NM_000465.4(BARD1):c.1427T>C (p.Val476Ala)
|
rs2106077102
|
|
|
NM_000465.4(BARD1):c.1428A>G (p.Val476=)
|
rs1057522429
|
|
|
NM_000465.4(BARD1):c.1429G>A (p.Val477Met)
|
rs1024564785
|
|
|
NM_000465.4(BARD1):c.1429G>C (p.Val477Leu)
|
rs1024564785
|
|
|
NM_000465.4(BARD1):c.1429G>T (p.Val477Leu)
|
rs1024564785
|
|
|
NM_000465.4(BARD1):c.1429del (p.Val477fs)
|
|
|
|
NM_000465.4(BARD1):c.1431G>A (p.Val477=)
|
rs543974545
|
|
|
NM_000465.4(BARD1):c.1434A>G (p.Glu478=)
|
rs1574788954
|
|
|
NM_000465.4(BARD1):c.1435T>G (p.Leu479Val)
|
rs1574788948
|
|
|
NM_000465.4(BARD1):c.1438T>C (p.Leu480=)
|
rs786203220
|
|
|
NM_000465.4(BARD1):c.1439T>G (p.Leu480Trp)
|
|
|
|
NM_000465.4(BARD1):c.143T>A (p.Leu48Gln)
|
rs1574868968
|
|
|
NM_000465.4(BARD1):c.1440G>C (p.Leu480Phe)
|
rs1354724039
|
|
|
NM_000465.4(BARD1):c.1440G>T (p.Leu480Phe)
|
|
|
|
NM_000465.4(BARD1):c.1441C>T (p.Leu481Phe)
|
rs1466783591
|
|
|
NM_000465.4(BARD1):c.1442T>C (p.Leu481Pro)
|
rs1694274375
|
|
|
NM_000465.4(BARD1):c.1442T>G (p.Leu481Arg)
|
rs1694274375
|
|
|
NM_000465.4(BARD1):c.1443C>G (p.Leu481=)
|
|
|
|
NM_000465.4(BARD1):c.1444del (p.Gln482fs)
|
|
|
|
NM_000465.4(BARD1):c.1446G>C (p.Gln482His)
|
rs1694273946
|
|
|
NM_000465.4(BARD1):c.1448A>T (p.His483Leu)
|
rs587781874
|
|
|
NM_000465.4(BARD1):c.1449T>C (p.His483=)
|
|
|
|
NM_000465.4(BARD1):c.144G>T (p.Leu48=)
|
rs151168457
|
|
|
NM_000465.4(BARD1):c.144_151del (p.Arg49fs)
|
|
|
|
NM_000465.4(BARD1):c.1450A>T (p.Lys484Ter)
|
rs1694273552
|
|
|
NM_000465.4(BARD1):c.1450_1451dup (p.Ala485fs)
|
|
|
|
NM_000465.4(BARD1):c.1454C>G (p.Ala485Gly)
|
|
|
|
NM_000465.4(BARD1):c.1454C>T (p.Ala485Val)
|
rs866261211
|
|
|
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.1457T>C (p.Leu486Ser)
|
rs1559410003
|
|
|
NM_000465.4(BARD1):c.1458G>A (p.Leu486=)
|
|
|
|
NM_000465.4(BARD1):c.1459G>A (p.Val487Met)
|
rs1553619294
|
|
|
NM_000465.4(BARD1):c.145C>T (p.Arg49Cys)
|
rs1696453597
|
|
|
NM_000465.4(BARD1):c.1461G>A (p.Val487=)
|
rs1694272372
|
|
|
NM_000465.4(BARD1):c.1461G>T (p.Val487=)
|
rs1694272372
|
|
|
NM_000465.4(BARD1):c.1463A>G (p.Asn488Ser)
|
rs1057518894
|
|
|
NM_000465.4(BARD1):c.1464C>T (p.Asn488=)
|
rs1694271901
|
|
|
NM_000465.4(BARD1):c.1465A>T (p.Thr489Ser)
|
|
|
|
NM_000465.4(BARD1):c.1467C>A (p.Thr489=)
|
|
|
|
NM_000465.4(BARD1):c.1467C>G (p.Thr489=)
|
|
|
|
NM_000465.4(BARD1):c.1467C>T (p.Thr489=)
|
rs1694271621
|
|
|
NM_000465.4(BARD1):c.1468A>G (p.Thr490Ala)
|
rs780964209
|
|
|
NM_000465.4(BARD1):c.1469C>G (p.Thr490Ser)
|
|
|
|
NM_000465.4(BARD1):c.1469C>T (p.Thr490Ile)
|
rs1379944646
|
|
|
NM_000465.4(BARD1):c.146G>C (p.Arg49Pro)
|
|
|
|
NM_000465.4(BARD1):c.1470C>A (p.Thr490=)
|
|
|
|
NM_000465.4(BARD1):c.1470C>G (p.Thr490=)
|
rs758895846
|
|
|
NM_000465.4(BARD1):c.1471G>C (p.Gly491Arg)
|
rs587782003
|
|
|
NM_000465.4(BARD1):c.1472G>A (p.Gly491Glu)
|
rs746790865
|
|
|
NM_000465.4(BARD1):c.1473G>C (p.Gly491=)
|
rs151080730
|
|
|
NM_000465.4(BARD1):c.1473G>T (p.Gly491=)
|
rs151080730
|
|
|
NM_000465.4(BARD1):c.1474T>C (p.Tyr492His)
|
rs1299360165
|
|
|
NM_000465.4(BARD1):c.1474dup (p.Tyr492fs)
|
|
|
|
NM_000465.4(BARD1):c.1475A>G (p.Tyr492Cys)
|
rs587782000
|
|
|
NM_000465.4(BARD1):c.1475A>T (p.Tyr492Phe)
|
rs587782000
|
|
|
NM_000465.4(BARD1):c.1476T>G (p.Tyr492Ter)
|
|
|
|
NM_000465.4(BARD1):c.1477C>G (p.Gln493Glu)
|
|
|
|
NM_000465.4(BARD1):c.1479A>G (p.Gln493=)
|
rs375029767
|
|
|
NM_000465.4(BARD1):c.1479A>T (p.Gln493His)
|
rs375029767
|
|
|
NM_000465.4(BARD1):c.147C>A (p.Arg49=)
|
rs1060504191
|
|
|
NM_000465.4(BARD1):c.1480_1481del (p.Gln493_Asn494insTer)
|
rs2106076720
|
|
|
NM_000465.4(BARD1):c.1481A>G (p.Asn494Ser)
|
rs587781334
|
|
|
NM_000465.4(BARD1):c.1482T>C (p.Asn494=)
|
|
|
|
NM_000465.4(BARD1):c.1483G>A (p.Asp495Asn)
|
|
|
|
NM_000465.4(BARD1):c.1485C>G (p.Asp495Glu)
|
rs1694268958
|
|
|
NM_000465.4(BARD1):c.1485C>T (p.Asp495=)
|
|
|
|
NM_000465.4(BARD1):c.1486_1489dup (p.Pro497fs)
|
|
|
|
NM_000465.4(BARD1):c.1487C>G (p.Ser496Ter)
|
rs1405646805
|
|
|
NM_000465.4(BARD1):c.1487C>T (p.Ser496Leu)
|
rs1405646805
|
|
|
NM_000465.4(BARD1):c.1488A>C (p.Ser496=)
|
rs1415537947
|
|
|
NM_000465.4(BARD1):c.1488A>G (p.Ser496=)
|
rs1415537947
|
|
|
NM_000465.4(BARD1):c.1489C>A (p.Pro497Thr)
|
|
|
|
NM_000465.4(BARD1):c.1492C>G (p.Leu498Val)
|
rs1553619265
|
|
|
NM_000465.4(BARD1):c.1495C>A (p.His499Asn)
|
rs748867360
|
|
|
NM_000465.4(BARD1):c.1495C>G (p.His499Asp)
|
rs748867360
|
|
|
NM_000465.4(BARD1):c.1498G>C (p.Asp500His)
|
|
|
|
NM_000465.4(BARD1):c.1499A>G (p.Asp500Gly)
|
rs878854001
|
|
|
NM_000465.4(BARD1):c.1499A>T (p.Asp500Val)
|
rs878854001
|
|
|
NM_000465.4(BARD1):c.1499dup (p.Asp500fs)
|
rs1553619258
|
|
|
NM_000465.4(BARD1):c.149G>A (p.Cys50Tyr)
|
|
|
|
NM_000465.4(BARD1):c.1500T>C (p.Asp500=)
|
rs1694266892
|
|
|
NM_000465.4(BARD1):c.1500T>G (p.Asp500Glu)
|
rs1694266892
|
|
|
NM_000465.4(BARD1):c.1503A>C (p.Ala501=)
|
|
|
|
NM_000465.4(BARD1):c.1503A>T (p.Ala501=)
|
|
|
|
NM_000465.4(BARD1):c.1505C>T (p.Ala502Val)
|
rs2106076564
|
|
|
NM_000465.4(BARD1):c.1506C>G (p.Ala502=)
|
|
|
|
NM_000465.4(BARD1):c.150C>A (p.Cys50Ter)
|
|
|
|
NM_000465.4(BARD1):c.150C>T (p.Cys50=)
|
rs2106170807
|
|
|
NM_000465.4(BARD1):c.1510A>G (p.Asn504Asp)
|
|
|
|
NM_000465.4(BARD1):c.1510_1514dup (p.His506fs)
|
|
|
|
NM_000465.4(BARD1):c.1511A>G (p.Asn504Ser)
|
rs1559409730
|
|
|
NM_000465.4(BARD1):c.1513G>A (p.Gly505Arg)
|
rs864622240
|
|
|
NM_000465.4(BARD1):c.1513G>C (p.Gly505Arg)
|
rs864622240
|
|
|
NM_000465.4(BARD1):c.1514G>A (p.Gly505Glu)
|
rs1060501304
|
|
|
NM_000465.4(BARD1):c.1515_1519delinsTCACA (p.Val507Met)
|
|
|
|
NM_000465.4(BARD1):c.1518T>A (p.His506Gln)
|
rs2070093
|
|
|
NM_000465.4(BARD1):c.1518_1519delinsCT (p.Val507Leu)
|
rs386654966
|
|
|
NM_000465.4(BARD1):c.1519G>A (p.Val507Met)
|
rs2070094
|
|
|
NM_000465.4(BARD1):c.1519G>T (p.Val507Leu)
|
rs2070094
|
|
|
NM_000465.4(BARD1):c.1521G>A (p.Val507=)
|
|
|
|
NM_000465.4(BARD1):c.1523A>T (p.Asp508Val)
|
rs769529578
|
|
|
NM_000465.4(BARD1):c.1525A>C (p.Ile509Leu)
|
rs876658576
|
|
|
NM_000465.4(BARD1):c.1525A>G (p.Ile509Val)
|
rs876658576
|
|
|
NM_000465.4(BARD1):c.1525_1528dup (p.Val510fs)
|
|
|
|
NM_000465.4(BARD1):c.1526T>C (p.Ile509Thr)
|
rs1553619225
|
|
|
NM_000465.4(BARD1):c.1528G>C (p.Val510Leu)
|
|
|
|
NM_000465.4(BARD1):c.1528G>T (p.Val510Phe)
|
rs2106076401
|
|
|
NM_000465.4(BARD1):c.152C>G (p.Ser51Trp)
|
rs766788652
|
|
|
NM_000465.4(BARD1):c.1530C>A (p.Val510=)
|
|
|
|
NM_000465.4(BARD1):c.1530C>G (p.Val510=)
|
|
|
|
NM_000465.4(BARD1):c.1530C>T (p.Val510=)
|
|
|
|
NM_000465.4(BARD1):c.1531A>T (p.Lys511Ter)
|
|
|
|
NM_000465.4(BARD1):c.1532A>C (p.Lys511Thr)
|
rs2106076398
|
|
|
NM_000465.4(BARD1):c.1532A>G (p.Lys511Arg)
|
|
|
|
NM_000465.4(BARD1):c.1535del (p.Leu512fs)
|
rs2106076377
|
|
|
NM_000465.4(BARD1):c.1536G>A (p.Leu512=)
|
|
|
|
NM_000465.4(BARD1):c.1536G>C (p.Leu512=)
|
rs2106076362
|
|
|
NM_000465.4(BARD1):c.1537T>G (p.Leu513Val)
|
rs1553619217
|
|
|
NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter)
|
rs2106076340
|
|
|
NM_000465.4(BARD1):c.1539A>G (p.Leu513=)
|
|
|
|
NM_000465.4(BARD1):c.153G>A (p.Ser51=)
|
rs761103724
|
|
|
NM_000465.4(BARD1):c.153G>C (p.Ser51=)
|
rs761103724
|
|
|
NM_000465.4(BARD1):c.1540del (p.Leu514fs)
|
|
|
|
NM_000465.4(BARD1):c.1541T>A (p.Leu514His)
|
|
|
|
NM_000465.4(BARD1):c.1543del (p.Ser515fs)
|
|
|
|
NM_000465.4(BARD1):c.1544C>A (p.Ser515Tyr)
|
rs746878509
|
|
|
NM_000465.4(BARD1):c.1544C>T (p.Ser515Phe)
|
rs746878509
|
|
|
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.1546T>C (p.Tyr516His)
|
rs1574788120
|
|
|
NM_000465.4(BARD1):c.1547A>G (p.Tyr516Cys)
|
rs876660325
|
|
|
NM_000465.4(BARD1):c.1547A>T (p.Tyr516Phe)
|
rs876660325
|
|
|
NM_000465.4(BARD1):c.1549G>A (p.Gly517Arg)
|
rs1553619208
|
|
|
NM_000465.4(BARD1):c.154_155delinsTT (p.Arg52Phe)
|
|
|
|
NM_000465.4(BARD1):c.1551A>G (p.Gly517=)
|
|
|
|
NM_000465.4(BARD1):c.1552G>A (p.Ala518Thr)
|
rs867639431
|
|
|
NM_000465.4(BARD1):c.1553C>A (p.Ala518Asp)
|
|
|
|
NM_000465.4(BARD1):c.1554C>G (p.Ala518=)
|
rs139612775
|
|
|
NM_000465.4(BARD1):c.1555T>C (p.Ser519Pro)
|
rs1553619206
|
|
|
NM_000465.4(BARD1):c.1556C>A (p.Ser519Tyr)
|
rs780106810
|
|
|
NM_000465.4(BARD1):c.1556C>T (p.Ser519Phe)
|
rs780106810
|
|
|
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.1559G>A (p.Arg520Lys)
|
|
|
|
NM_000465.4(BARD1):c.1562A>G (p.Asn521Ser)
|
rs1553619203
|
|
|
NM_000465.4(BARD1):c.1562A>T (p.Asn521Ile)
|
rs1553619203
|
|
|
NM_000465.4(BARD1):c.1564G>A (p.Ala522Thr)
|
rs730881419
|
|
|
NM_000465.4(BARD1):c.1564G>T (p.Ala522Ser)
|
rs730881419
|
|
|
NM_000465.4(BARD1):c.1565_1568+298del
|
rs2106075317
|
|
|
NM_000465.4(BARD1):c.1566T>A (p.Ala522=)
|
|
|
|
NM_000465.4(BARD1):c.1567G>A (p.Val523Ile)
|
|
|
|
NM_000465.4(BARD1):c.1568+10T>A
|
rs1375582645
|
|
|
NM_000465.4(BARD1):c.1568+11C>G
|
rs1553619191
|
|
|
NM_000465.4(BARD1):c.1568+12A>G
|
|
|
|
NM_000465.4(BARD1):c.1568+13A>G
|
rs1559409440
|
|
|
NM_000465.4(BARD1):c.1568+13_1568+14inv
|
|
|
|
NM_000465.4(BARD1):c.1568+15G>A
|
rs145936354
|
|
|
NM_000465.4(BARD1):c.1568+15G>C
|
rs145936354
|
|
|
NM_000465.4(BARD1):c.1568+1G>A
|
rs2106076135
|
|
|
NM_000465.4(BARD1):c.1568+1G>T
|
|
|
|
NM_000465.4(BARD1):c.1568+2T>C
|
rs1553619196
|
|
|
NM_000465.4(BARD1):c.1568+2dup
|
|
|
|
NM_000465.4(BARD1):c.1568+4A>T
|
|
|
|
NM_000465.4(BARD1):c.1568+5G>A
|
|
|
|
NM_000465.4(BARD1):c.1568+6420A>G
|
rs1325938441
|
|
|
NM_000465.4(BARD1):c.1568+6T>A
|
rs1553619192
|
|
|
NM_000465.4(BARD1):c.1568+7A>G
|
rs2106076097
|
|
|
NM_000465.4(BARD1):c.1568+8G>A
|
rs2106076090
|
|
|
NM_000465.4(BARD1):c.1568+9T>G
|
|
|
|
NM_000465.4(BARD1):c.1569-12T>C
|
rs879254246
|
|
|
NM_000465.4(BARD1):c.1569-12T>G
|
rs879254246
|
|
|
NM_000465.4(BARD1):c.1569-13C>T
|
rs587780018
|
|
|
NM_000465.4(BARD1):c.1569-14A>G
|
rs2106039216
|
|
|
NM_000465.4(BARD1):c.1569-15C>T
|
rs944044039
|
|
|
NM_000465.4(BARD1):c.1569-18C>T
|
rs1693510397
|
|
|
NM_000465.4(BARD1):c.1569-19T>G
|
|
|
|
NM_000465.4(BARD1):c.1569-1G>A
|
rs1574756672
|
|
|
NM_000465.4(BARD1):c.1569-1G>C
|
rs1574756672
|
|
|
NM_000465.4(BARD1):c.1569-1_1677+2del
|
rs2106038518
|
|
|
NM_000465.4(BARD1):c.1569-20A>T
|
|
|
|
NM_000465.4(BARD1):c.1569-20dup
|
rs1693510645
|
|
|
NM_000465.4(BARD1):c.1569-2A>C
|
rs1693509336
|
|
|
NM_000465.4(BARD1):c.1569-2A>G
|
rs1693509336
|
|
|
NM_000465.4(BARD1):c.1569-3C>G
|
rs1553616422
|
|
|
NM_000465.4(BARD1):c.1569-5A>G
|
rs1402208859
|
|
|
NM_000465.4(BARD1):c.1569-6147A>G
|
|
|
|
NM_000465.4(BARD1):c.1569-6T>C
|
rs2106039183
|
|
|
NM_000465.4(BARD1):c.1569-7T>C
|
rs1559395026
|
|
|
NM_000465.4(BARD1):c.1569-7T>G
|
rs1559395026
|
|
|
NM_000465.4(BARD1):c.156T>G (p.Arg52=)
|
|
|
|
NM_000465.4(BARD1):c.1570A>C (p.Asn524His)
|
|
|
|
NM_000465.4(BARD1):c.1570A>G (p.Asn524Asp)
|
|
|
|
NM_000465.4(BARD1):c.1572T>C (p.Asn524=)
|
|
|
|
NM_000465.4(BARD1):c.1573A>G (p.Ile525Val)
|
rs536711200
|
|
|
NM_000465.4(BARD1):c.1575A>G (p.Ile525Met)
|
rs1559394981
|
|
|
NM_000465.4(BARD1):c.1575A>T (p.Ile525=)
|
|
|
|
NM_000465.4(BARD1):c.1579G>A (p.Gly527Ser)
|
rs1060501301
|
|
|
NM_000465.4(BARD1):c.1579G>T (p.Gly527Cys)
|
rs1060501301
|
|
|
NM_000465.4(BARD1):c.1579_1580del (p.Gly527fs)
|
|
|
|
NM_000465.4(BARD1):c.157T>G (p.Cys53Gly)
|
rs1354779388
|
|
|
NM_000465.4(BARD1):c.157del (p.Cys53fs)
|
rs1696452439
|
|
|
NM_000465.4(BARD1):c.158+10G>C
|
rs2106170715
|
|
|
NM_000465.4(BARD1):c.158+12G>A
|
rs2106170700
|
|
|
NM_000465.4(BARD1):c.158+13C>G
|
|
|
|
NM_000465.4(BARD1):c.158+15T>C
|
rs1232574568
|
|
|
NM_000465.4(BARD1):c.158+15T>G
|
|
|
|
NM_000465.4(BARD1):c.158+17T>C
|
rs1336439749
|
|
|
NM_000465.4(BARD1):c.158+19G>C
|
|
|
|
NM_000465.4(BARD1):c.158+19G>T
|
rs773922628
|
|
|
NM_000465.4(BARD1):c.158+1G>A
|
|
|
|
NM_000465.4(BARD1):c.158+1G>T
|
rs1553628351
|
|
|
NM_000465.4(BARD1):c.158+1_158+3delinsTT
|
|
|
|
NM_000465.4(BARD1):c.158+20G>C
|
rs1057520824
|
|
|
NM_000465.4(BARD1):c.158+20G>T
|
rs1057520824
|
|
|
NM_000465.4(BARD1):c.158+2_158+10del
|
|
|
|
NM_000465.4(BARD1):c.158+5A>G
|
rs1057522270
|
|
|
NM_000465.4(BARD1):c.158+6G>T
|
rs1696451585
|
|
|
NM_000465.4(BARD1):c.158+9G>T
|
rs1574868837
|
|
|
NM_000465.4(BARD1):c.1580G>A (p.Gly527Asp)
|
rs587781507
|
|
|
NM_000465.4(BARD1):c.1580G>T (p.Gly527Val)
|
rs587781507
|
|
|
NM_000465.4(BARD1):c.1581T>C (p.Gly527=)
|
|
|
|
NM_000465.4(BARD1):c.1581T>G (p.Gly527=)
|
|
|
|
NM_000465.4(BARD1):c.1582C>T (p.Leu528=)
|
rs1693508020
|
|
|
NM_000465.4(BARD1):c.1584G>A (p.Leu528=)
|
|
|
|
NM_000465.4(BARD1):c.1584G>C (p.Leu528=)
|
|
|
|
NM_000465.4(BARD1):c.1585C>G (p.Arg529Gly)
|
rs375515606
|
|
|
NM_000465.4(BARD1):c.1587G>A (p.Arg529=)
|
rs532444144
|
|
|
NM_000465.4(BARD1):c.1587G>C (p.Arg529=)
|
|
|
|
NM_000465.4(BARD1):c.1588C>T (p.Pro530Ser)
|
rs760144724
|
|
|
NM_000465.4(BARD1):c.158G>A (p.Cys53Tyr)
|
rs747582517
|
|
|
NM_000465.4(BARD1):c.159-10C>T
|
rs1379603657
|
|
|
NM_000465.4(BARD1):c.159-14A>T
|
rs2106145847
|
|
|
NM_000465.4(BARD1):c.159-15A>G
|
|
|
|
NM_000465.4(BARD1):c.159-16T>G
|
|
|
|
NM_000465.4(BARD1):c.159-16del
|
|
|
|
NM_000465.4(BARD1):c.159-17T>C
|
|
|
|
NM_000465.4(BARD1):c.159-1G>A
|
rs879254139
|
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
|
NM_000465.4(BARD1):c.159-20G>A
|
rs2106145881
|
|
|
NM_000465.4(BARD1):c.159-20G>T
|
rs2106145881
|
|
|
NM_000465.4(BARD1):c.159-2A>C
|
rs1424761304
|
|
|
NM_000465.4(BARD1):c.159-3C>A
|
rs1695796591
|
|
|
NM_000465.4(BARD1):c.159-3C>T
|
rs1695796591
|
|
|
NM_000465.4(BARD1):c.159-3_159-2insTTTAATTTCTTCAAACTGTTAGTACTG
|
rs2106145814
|
|
|
NM_000465.4(BARD1):c.159-4A>G
|
rs1060501299
|
|
|
NM_000465.4(BARD1):c.159-5A>G
|
rs876658380
|
|
|
NM_000465.4(BARD1):c.159-6A>C
|
|
|
|
NM_000465.4(BARD1):c.159-6A>G
|
rs773668916
|
|
|
NM_000465.4(BARD1):c.159-7C>A
|
rs533403598
|
|
|
NM_000465.4(BARD1):c.159-9T>C
|
rs2106145829
|
|
|
NM_000465.4(BARD1):c.1590T>G (p.Pro530=)
|
rs1553616406
|
|
|
NM_000465.4(BARD1):c.1590_1617del (p.Val531fs)
|
|
|
|
NM_000465.4(BARD1):c.1593C>G (p.Val531=)
|
rs564894014
|
|
|
NM_000465.4(BARD1):c.1594G>C (p.Asp532His)
|
|
|
|
NM_000465.4(BARD1):c.1595A>G (p.Asp532Gly)
|
|
|
|
NM_000465.4(BARD1):c.1596T>C (p.Asp532=)
|
rs2106039038
|
|
|
NM_000465.4(BARD1):c.1597del (p.Tyr533fs)
|
|
|
|
NM_000465.4(BARD1):c.1598A>T (p.Tyr533Phe)
|
rs761673463
|
|
|
NM_000465.4(BARD1):c.1598del (p.Tyr533fs)
|
|
|
|
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.1600A>C (p.Thr534Pro)
|
rs786202280
|
|
|
NM_000465.4(BARD1):c.1600A>G (p.Thr534Ala)
|
|
|
|
NM_000465.4(BARD1):c.1600_1634delinsGCG (p.Thr534fs)
|
rs1064792931
|
|
|
NM_000465.4(BARD1):c.1601C>A (p.Thr534Lys)
|
|
|
|
NM_000465.4(BARD1):c.1602A>G (p.Thr534=)
|
rs1553616398
|
|
|
NM_000465.4(BARD1):c.1604A>G (p.Asp535Gly)
|
rs1574756445
|
|
|
NM_000465.4(BARD1):c.1604_1622delinsCA (p.Asp535fs)
|
|
|
|
NM_000465.4(BARD1):c.1605T>A (p.Asp535Glu)
|
|
|
|
NM_000465.4(BARD1):c.1605T>C (p.Asp535=)
|
rs1172740478
|
|
|
NM_000465.4(BARD1):c.1606G>A (p.Asp536Asn)
|
rs866000739
|
|
|
NM_000465.4(BARD1):c.1606G>C (p.Asp536His)
|
rs866000739
|
|
|
NM_000465.4(BARD1):c.1607A>G (p.Asp536Gly)
|
rs1559394867
|
|
|
NM_000465.4(BARD1):c.1607A>T (p.Asp536Val)
|
rs1559394867
|
|
|
NM_000465.4(BARD1):c.1608T>C (p.Asp536=)
|
rs1553616392
|
|
|
NM_000465.4(BARD1):c.1610A>G (p.Glu537Gly)
|
rs1553616390
|
|
|
NM_000465.4(BARD1):c.1611A>C (p.Glu537Asp)
|
|
|
|
NM_000465.4(BARD1):c.1614T>G (p.Ser538Arg)
|
|
|
|
NM_000465.4(BARD1):c.1616T>C (p.Met539Thr)
|
rs1574756354
|
|
|
NM_000465.4(BARD1):c.161C>A (p.Thr54Asn)
|
rs879253878
|
|
|
NM_000465.4(BARD1):c.1620A>G (p.Lys540=)
|
rs747076015
|
|
|
NM_000465.4(BARD1):c.1620A>T (p.Lys540Asn)
|
rs747076015
|
|
|
NM_000465.4(BARD1):c.1620del (p.Lys540fs)
|
rs1693504040
|
|
|
NM_000465.4(BARD1):c.1621T>C (p.Ser541Pro)
|
rs2106038879
|
|
|
NM_000465.4(BARD1):c.1622C>A (p.Ser541Ter)
|
rs777937955
|
|
|
NM_000465.4(BARD1):c.1624C>T (p.Leu542=)
|
rs2106038865
|
|
|
NM_000465.4(BARD1):c.1627T>C (p.Leu543=)
|
|
|
|
NM_000465.4(BARD1):c.1628_1632del (p.Leu543fs)
|
|
|
|
NM_000465.4(BARD1):c.162T>G (p.Thr54=)
|
|
|
|
NM_000465.4(BARD1):c.1630C>T (p.Leu544=)
|
|
|
|
NM_000465.4(BARD1):c.1632G>A (p.Leu544=)
|
|
|
|
NM_000465.4(BARD1):c.1633C>G (p.Leu545Val)
|
rs779307636
|
|
|
NM_000465.4(BARD1):c.1634T>C (p.Leu545Pro)
|
rs876658145
|
|
|
NM_000465.4(BARD1):c.1635A>G (p.Leu545=)
|
rs786203364
|
|
|
NM_000465.4(BARD1):c.1635_1663dup (p.Ser555fs)
|
rs1553616352
|
|
|
NM_000465.4(BARD1):c.1638A>G (p.Pro546=)
|
rs2106038802
|
|
|
NM_000465.4(BARD1):c.1639G>T (p.Glu547Ter)
|
rs876658429
|
|
|
NM_000465.4(BARD1):c.1639_1667del (p.Glu547fs)
|
|
|
|
NM_000465.4(BARD1):c.163A>G (p.Asn55Asp)
|
rs1039799564
|
|
|
NM_000465.4(BARD1):c.163A>T (p.Asn55Tyr)
|
rs1039799564
|
|
|
NM_000465.4(BARD1):c.1640A>C (p.Glu547Ala)
|
rs1559394731
|
|
|
NM_000465.4(BARD1):c.1641G>A (p.Glu547=)
|
rs1425687821
|
|
|
NM_000465.4(BARD1):c.1641_1645dup (p.Asn549fs)
|
rs1553616361
|
|
|
NM_000465.4(BARD1):c.1642A>G (p.Lys548Glu)
|
rs1553616362
|
|
|
NM_000465.4(BARD1):c.1644G>A (p.Lys548=)
|
rs1064796411
|
|
|
NM_000465.4(BARD1):c.1644G>T (p.Lys548Asn)
|
rs1064796411
|
|
|
NM_000465.4(BARD1):c.1647T>C (p.Asn549=)
|
rs754193049
|
|
|
NM_000465.4(BARD1):c.1648G>C (p.Glu550Gln)
|
|
|
|
NM_000465.4(BARD1):c.1648G>T (p.Glu550Ter)
|
|
|
|
NM_000465.4(BARD1):c.1648_1649delinsAT (p.Glu550Ile)
|
rs1693500792
|
|
|
NM_000465.4(BARD1):c.1650A>G (p.Glu550=)
|
rs1559394684
|
|
|
NM_000465.4(BARD1):c.1652C>T (p.Ser551Leu)
|
rs587781707
|
|
|
NM_000465.4(BARD1):c.1653A>G (p.Ser551=)
|
rs876660383
|
|
|
NM_000465.4(BARD1):c.1654T>C (p.Ser552Pro)
|
rs1693500175
|
|
|
NM_000465.4(BARD1):c.1655C>G (p.Ser552Cys)
|
rs876660617
|
|
|
NM_000465.4(BARD1):c.1655C>T (p.Ser552Phe)
|
rs876660617
|
|
|
NM_000465.4(BARD1):c.1656del (p.Ser553fs)
|
rs1574756047
|
|
|
NM_000465.4(BARD1):c.1658C>A (p.Ser553Ter)
|
|
|
|
NM_000465.4(BARD1):c.1658C>G (p.Ser553Ter)
|
|
|
|
NM_000465.4(BARD1):c.1658C>T (p.Ser553Leu)
|
|
|
|
NM_000465.4(BARD1):c.1659A>G (p.Ser553=)
|
|
|
|
NM_000465.4(BARD1):c.165C>T (p.Asn55=)
|
rs1553625775
|
|
|
NM_000465.4(BARD1):c.1661C>G (p.Ala554Gly)
|
|
|
|
NM_000465.4(BARD1):c.1661C>T (p.Ala554Val)
|
|
|
|
NM_000465.4(BARD1):c.1662T>C (p.Ala554=)
|
rs1402521170
|
|
|
NM_000465.4(BARD1):c.1662_1665del (p.Ser555fs)
|
rs753537518
|
|
|
NM_000465.4(BARD1):c.1664G>A (p.Ser555Asn)
|
rs1693499055
|
|
|
NM_000465.4(BARD1):c.1668C>A (p.His556Gln)
|
rs2106038572
|
|
|
NM_000465.4(BARD1):c.1668C>T (p.His556=)
|
rs2106038572
|
|
|
NM_000465.4(BARD1):c.166A>C (p.Ile56Leu)
|
rs1060501302
|
|
|
NM_000465.4(BARD1):c.166A>G (p.Ile56Val)
|
rs1060501302
|
|
|
NM_000465.4(BARD1):c.1670G>T (p.Cys557Phe)
|
|
|
|
NM_000465.4(BARD1):c.1672T>A (p.Ser558Thr)
|
|
|
|
NM_000465.4(BARD1):c.1673C>G (p.Ser558Ter)
|
|
|
|
NM_000465.4(BARD1):c.1673C>T (p.Ser558Leu)
|
rs1416123568
|
|
|
NM_000465.4(BARD1):c.1674A>C (p.Ser558=)
|
|
|
|
NM_000465.4(BARD1):c.1674A>G (p.Ser558=)
|
rs1060501313
|
|
|
NM_000465.4(BARD1):c.1675G>A (p.Val559Ile)
|
rs2106038526
|
|
|
NM_000465.4(BARD1):c.1676_1677+23del
|
rs1553616339
|
|
|
NM_000465.4(BARD1):c.1677+10G>A
|
rs2106038483
|
|
|
NM_000465.4(BARD1):c.1677+11A>G
|
|
|
|
NM_000465.4(BARD1):c.1677+11A>T
|
rs2106038475
|
|
|
NM_000465.4(BARD1):c.1677+16G>C
|
rs2106038468
|
|
|
NM_000465.4(BARD1):c.1677+19T>G
|
rs1693496585
|
|
|
NM_000465.4(BARD1):c.1677+1G>A
|
|
|
|
NM_000465.4(BARD1):c.1677+1G>C
|
rs1060501310
|
|
|
NM_000465.4(BARD1):c.1677+1G>T
|
|
|
|
NM_000465.4(BARD1):c.1677+20del
|
|
|
|
NM_000465.4(BARD1):c.1677+2T>A
|
|
|
|
NM_000465.4(BARD1):c.1677+2T>C
|
|
|
|
NM_000465.4(BARD1):c.1677+3A>G
|
rs1553616344
|
|
|
NM_000465.4(BARD1):c.1677+4A>C
|
|
|
|
NM_000465.4(BARD1):c.1677+4A>G
|
rs2106038503
|
|
|
NM_000465.4(BARD1):c.1677+4_1677+7del
|
rs1064795776
|
|
|
NM_000465.4(BARD1):c.1677+4del
|
rs1693497293
|
|
|
NM_000465.4(BARD1):c.1677+5G>A
|
rs587780019
|
|
|
NM_000465.4(BARD1):c.1677+5G>C
|
|
|
|
NM_000465.4(BARD1):c.1677+6T>C
|
rs1400074259
|
|
|
NM_000465.4(BARD1):c.1677+7A>C
|
|
|
|
NM_000465.4(BARD1):c.1677+7A>G
|
|
|
|
NM_000465.4(BARD1):c.1677+9G>A
|
|
|
|
NM_000465.4(BARD1):c.1677A>G (p.Val559=)
|
|
|
|
NM_000465.4(BARD1):c.1678-10A>G
|
|
|
|
NM_000465.4(BARD1):c.1678-10A>T
|
rs2106021515
|
|
|
NM_000465.4(BARD1):c.1678-11T>A
|
rs1553615185
|
|
|
NM_000465.4(BARD1):c.1678-11T>C
|
|
|
|
NM_000465.4(BARD1):c.1678-11T>G
|
rs1553615185
|
|
|
NM_000465.4(BARD1):c.1678-11del
|
|
|
|
NM_000465.4(BARD1):c.1678-11dup
|
|
|
|
NM_000465.4(BARD1):c.1678-12T>C
|
|
|
|
NM_000465.4(BARD1):c.1678-12T>G
|
rs1553615187
|
|
|
NM_000465.4(BARD1):c.1678-14T>C
|
|
|
|
NM_000465.4(BARD1):c.1678-1G>A
|
|
|
|
NM_000465.4(BARD1):c.1678-1_1678del
|
rs1553615184
|
|
|
NM_000465.4(BARD1):c.1678-1_1684del
|
|
|
|
NM_000465.4(BARD1):c.1678-2A>G
|
rs1693089850
|
|
|
NM_000465.4(BARD1):c.1678-2A>T
|
|
|
|
NM_000465.4(BARD1):c.1678-3C>G
|
rs1693089932
|
|
|
NM_000465.4(BARD1):c.1678-3C>T
|
|
|
|
NM_000465.4(BARD1):c.1678-5_1903+5del
|
|
|
|
NM_000465.4(BARD1):c.1678-6T>C
|
rs2106021502
|
|
|
NM_000465.4(BARD1):c.1678-8A>G
|
|
|
|
NM_000465.4(BARD1):c.1678-8A>T
|
|
|
|
NM_000465.4(BARD1):c.1678-9T>C
|
|
|
|
NM_000465.4(BARD1):c.1678-9T>G
|
|
|
|
NM_000465.4(BARD1):c.1678A>C (p.Met560Leu)
|
rs587780020
|
|
|
NM_000465.4(BARD1):c.167T>G (p.Ile56Ser)
|
rs1695794895
|
|
|
NM_000465.4(BARD1):c.1680G>A (p.Met560Ile)
|
rs2106021467
|
|
|
NM_000465.4(BARD1):c.1682A>G (p.Asn561Ser)
|
rs1165939780
|
|
|
NM_000465.4(BARD1):c.1684A>G (p.Thr562Ala)
|
|
|
|
NM_000465.4(BARD1):c.1685C>G (p.Thr562Ser)
|
rs730881420
|
|
|
NM_000465.4(BARD1):c.1685C>T (p.Thr562Ile)
|
rs730881420
|
|
|
NM_000465.4(BARD1):c.1686T>C (p.Thr562=)
|
|
|
|
NM_000465.4(BARD1):c.1688G>A (p.Gly563Glu)
|
rs1693088188
|
|
|
NM_000465.4(BARD1):c.168del (p.Ile56_Leu57insTer)
|
rs1574847428
|
|
|
NM_000465.4(BARD1):c.1690C>G (p.Gln564Glu)
|
rs587780021
|
|
|
NM_000465.4(BARD1):c.1691A>C (p.Gln564Pro)
|
rs1693087698
|
|
|
NM_000465.4(BARD1):c.1692G>A (p.Gln564=)
|
rs1168537193
|
|
|
NM_000465.4(BARD1):c.1693C>A (p.Arg565Ser)
|
|
|
|
NM_000465.4(BARD1):c.1696_1697del (p.Arg566fs)
|
|
|
|
NM_000465.4(BARD1):c.1697G>A (p.Arg566Lys)
|
rs1357185397
|
|
|
NM_000465.4(BARD1):c.1698G>A (p.Arg566=)
|
|
|
|
NM_000465.4(BARD1):c.169C>T (p.Leu57=)
|
rs1559441908
|
|
|
NM_000465.4(BARD1):c.16C>A (p.Gln6Lys)
|
rs876658234
|
|
|
NM_000465.4(BARD1):c.1702G>C (p.Gly568Arg)
|
rs878854002
|
|
|
NM_000465.4(BARD1):c.1703G>C (p.Gly568Ala)
|
rs1007761710
|
|
|
NM_000465.4(BARD1):c.1704A>T (p.Gly568=)
|
rs1057520238
|
|
|
NM_000465.4(BARD1):c.1705C>A (p.Pro569Thr)
|
rs1341946052
|
|
|
NM_000465.4(BARD1):c.1706C>T (p.Pro569Leu)
|
rs1693085872
|
|
|
NM_000465.4(BARD1):c.1707T>G (p.Pro569=)
|
rs1446799885
|
|
|
NM_000465.4(BARD1):c.1709T>C (p.Leu570Pro)
|
|
|
|
NM_000465.4(BARD1):c.1710T>G (p.Leu570=)
|
rs1574739620
|
|
|
NM_000465.4(BARD1):c.1711G>A (p.Val571Ile)
|
rs1397595827
|
|
|
NM_000465.4(BARD1):c.1711G>T (p.Val571Leu)
|
|
|
|
NM_000465.4(BARD1):c.1712T>A (p.Val571Glu)
|
rs1574739590
|
|
|
NM_000465.4(BARD1):c.1713A>G (p.Val571=)
|
rs1553615162
|
|
|
NM_000465.4(BARD1):c.1714C>T (p.Leu572Phe)
|
rs772222117
|
|
|
NM_000465.4(BARD1):c.1716T>A (p.Leu572=)
|
|
|
|
NM_000465.4(BARD1):c.1716T>C (p.Leu572=)
|
rs1693084402
|
|
|
NM_000465.4(BARD1):c.1717A>C (p.Ile573Leu)
|
|
|
|
NM_000465.4(BARD1):c.1717A>G (p.Ile573Val)
|
rs1574739553
|
|
|
NM_000465.4(BARD1):c.1718T>G (p.Ile573Arg)
|
|
|
|
NM_000465.4(BARD1):c.1718_1730del (p.Ile573fs)
|
|
|
|
NM_000465.4(BARD1):c.1719A>G (p.Ile573Met)
|
rs1272044533
|
|
|
NM_000465.4(BARD1):c.171G>A (p.Leu57=)
|
rs876659045
|
|
|
NM_000465.4(BARD1):c.1720G>A (p.Gly574Ser)
|
rs876660437
|
|
|
NM_000465.4(BARD1):c.1721G>A (p.Gly574Asp)
|
|
|
|
NM_000465.4(BARD1):c.1722C>A (p.Gly574=)
|
|
|
|
NM_000465.4(BARD1):c.1722C>T (p.Gly574=)
|
|
|
|
NM_000465.4(BARD1):c.1723_1729del (p.Ser575fs)
|
rs2106021114
|
|
|
NM_000465.4(BARD1):c.1724G>C (p.Ser575Thr)
|
|
|
|
NM_000465.4(BARD1):c.1725_1903+740del
|
|
|
|
NM_000465.4(BARD1):c.1726G>A (p.Gly576Arg)
|
|
|
|
NM_000465.4(BARD1):c.1727G>A (p.Gly576Glu)
|
rs768793837
|
|
|
NM_000465.4(BARD1):c.1727G>C (p.Gly576Ala)
|
rs768793837
|
|
|
NM_000465.4(BARD1):c.1728dup (p.Leu577fs)
|
|
|
|
NM_000465.4(BARD1):c.172A>C (p.Arg58=)
|
|
|
|
NM_000465.4(BARD1):c.172A>G (p.Arg58Gly)
|
rs1695794289
|
|
|
NM_000465.4(BARD1):c.1733C>T (p.Ser578Phe)
|
rs786202519
|
|
|
NM_000465.4(BARD1):c.1733_1734delinsTC (p.Ser578Phe)
|
rs2106021072
|
|
|
NM_000465.4(BARD1):c.1735dup (p.Ser579fs)
|
|
|
|
NM_000465.4(BARD1):c.1736C>A (p.Ser579Ter)
|
|
|
|
NM_000465.4(BARD1):c.1736C>G (p.Ser579Ter)
|
|
|
|
NM_000465.4(BARD1):c.1737A>C (p.Ser579=)
|
rs876659896
|
|
|
NM_000465.4(BARD1):c.1737A>G (p.Ser579=)
|
rs876659896
|
|
|
NM_000465.4(BARD1):c.1740A>G (p.Glu580=)
|
rs1693081657
|
|
|
NM_000465.4(BARD1):c.1740ACA[1] (p.Gln582del)
|
|
|
|
NM_000465.4(BARD1):c.1741C>G (p.Gln581Glu)
|
|
|
|
NM_000465.4(BARD1):c.1741C>T (p.Gln581Ter)
|
rs2106021020
|
|
|
NM_000465.4(BARD1):c.1743A>G (p.Gln581=)
|
rs1060504192
|
|
|
NM_000465.4(BARD1):c.1744C>T (p.Gln582Ter)
|
rs1553615135
|
|
|
NM_000465.4(BARD1):c.1745A>G (p.Gln582Arg)
|
rs864622329
|
|
|
NM_000465.4(BARD1):c.1746G>A (p.Gln582=)
|
rs876660167
|
|
|
NM_000465.4(BARD1):c.1746_1747del (p.Lys583fs)
|
|
|
|
NM_000465.4(BARD1):c.1747A>C (p.Lys583Gln)
|
|
|
|
NM_000465.4(BARD1):c.1748A>C (p.Lys583Thr)
|
|
|
|
NM_000465.4(BARD1):c.1751_1756dup (p.Met584_Leu585dup)
|
rs763622701
|
|
|
NM_000465.4(BARD1):c.1753C>A (p.Leu585Ile)
|
|
|
|
NM_000465.4(BARD1):c.1753C>G (p.Leu585Val)
|
rs1553615132
|
|
|
NM_000465.4(BARD1):c.1754T>C (p.Leu585Pro)
|
rs786201905
|
|
|
NM_000465.4(BARD1):c.1754T>G (p.Leu585Arg)
|
rs786201905
|
|
|
NM_000465.4(BARD1):c.1755C>T (p.Leu585=)
|
rs2106020941
|
|
|
NM_000465.4(BARD1):c.1757G>A (p.Ser586Asn)
|
rs369756202
|
|
|
NM_000465.4(BARD1):c.1757G>C (p.Ser586Thr)
|
|
|
|
NM_000465.4(BARD1):c.1758_1761del (p.Glu587fs)
|
rs1574739207
|
|
|
NM_000465.4(BARD1):c.1758del (p.Ser586fs)
|
rs1559387024
|
|
|
NM_000465.4(BARD1):c.1759G>A (p.Glu587Lys)
|
rs780820468
|
|
|
NM_000465.4(BARD1):c.1759G>T (p.Glu587Ter)
|
|
|
|
NM_000465.4(BARD1):c.175G>A (p.Glu59Lys)
|
rs1559441880
|
|
|
NM_000465.4(BARD1):c.175G>C (p.Glu59Gln)
|
rs1559441880
|
|
|
NM_000465.4(BARD1):c.1760A>T (p.Glu587Val)
|
|
|
|
NM_000465.4(BARD1):c.1761G>A (p.Glu587=)
|
rs1060501284
|
|
|
NM_000465.4(BARD1):c.1762C>G (p.Leu588Val)
|
rs559584913
|
|
|
NM_000465.4(BARD1):c.1765G>A (p.Ala589Thr)
|
rs547417612
|
|
|
NM_000465.4(BARD1):c.1765dup (p.Ala589fs)
|
|
|
|
NM_000465.4(BARD1):c.1766C>T (p.Ala589Val)
|
rs1574739157
|
|
|
NM_000465.4(BARD1):c.1767A>G (p.Ala589=)
|
rs1553615121
|
|
|
NM_000465.4(BARD1):c.1767A>T (p.Ala589=)
|
|
|
|
NM_000465.4(BARD1):c.1768G>A (p.Val590Ile)
|
|
|
|
NM_000465.4(BARD1):c.176A>C (p.Glu59Ala)
|
rs2106145710
|
|
|
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.1771del (p.Ile591fs)
|
rs1574739114
|
|
|
NM_000465.4(BARD1):c.1773T>A (p.Ile591=)
|
rs201565373
|
|
|
NM_000465.4(BARD1):c.1774C>G (p.Leu592Val)
|
|
|
|
NM_000465.4(BARD1):c.1774C>T (p.Leu592Phe)
|
rs1574739070
|
|
|
NM_000465.4(BARD1):c.1776T>C (p.Leu592=)
|
rs1693076208
|
|
|
NM_000465.4(BARD1):c.1776T>G (p.Leu592=)
|
|
|
|
NM_000465.4(BARD1):c.1776_1777insTTTTTTTTTTTTTTTTTTTGNNNNNNNNNNCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGCAGTAATTCTT (p.Lys593delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuAspLeuLeuThrSerTer)
|
rs2106020750
|
|
|
NM_000465.4(BARD1):c.1777A>G (p.Lys593Glu)
|
rs1693076059
|
|
|
NM_000465.4(BARD1):c.1779G>A (p.Lys593=)
|
rs1396107132
|
|
|
NM_000465.4(BARD1):c.177G>A (p.Glu59=)
|
|
|
|
NM_000465.4(BARD1):c.177G>T (p.Glu59Asp)
|
rs1060501307
|
|
|
NM_000465.4(BARD1):c.1781C>A (p.Ala594Asp)
|
|
|
|
NM_000465.4(BARD1):c.1781C>G (p.Ala594Gly)
|
|
|
|
NM_000465.4(BARD1):c.1783A>G (p.Lys595Glu)
|
rs1393141051
|
|
|
NM_000465.4(BARD1):c.1785A>G (p.Lys595=)
|
|
|
|
NM_000465.4(BARD1):c.1786A>C (p.Lys596Gln)
|
|
|
|
NM_000465.4(BARD1):c.1786_1793del (p.Lys595_Lys596insTer)
|
rs1693074467
|
|
|
NM_000465.4(BARD1):c.1786_1804del (p.Lys596fs)
|
rs1553615102
|
|
|
NM_000465.4(BARD1):c.1788_1792del (p.Lys596fs)
|
|
|
|
NM_000465.4(BARD1):c.1788del (p.Lys596fs)
|
rs1574739005
|
|
|
NM_000465.4(BARD1):c.1788dup (p.Tyr597fs)
|
|
|
|
NM_000465.4(BARD1):c.1789T>C (p.Tyr597His)
|
|
|
|
NM_000465.4(BARD1):c.1789_1792del (p.Tyr597fs)
|
|
|
|
NM_000465.4(BARD1):c.178C>A (p.Pro60Thr)
|
|
|
|
NM_000465.4(BARD1):c.1790_1794dup (p.Glu599fs)
|
|
|
|
NM_000465.4(BARD1):c.1793C>T (p.Thr598Ile)
|
rs376256852
|
|
|
NM_000465.4(BARD1):c.1794T>C (p.Thr598=)
|
rs1553615105
|
|
|
NM_000465.4(BARD1):c.1794T>G (p.Thr598=)
|
rs1553615105
|
|
|
NM_000465.4(BARD1):c.1795G>A (p.Glu599Lys)
|
rs1553615104
|
|
|
NM_000465.4(BARD1):c.1797G>A (p.Glu599=)
|
rs1317068399
|
|
|
NM_000465.4(BARD1):c.1797G>T (p.Glu599Asp)
|
rs1317068399
|
|
|
NM_000465.4(BARD1):c.179C>G (p.Pro60Arg)
|
rs1553625768
|
|
|
NM_000465.4(BARD1):c.179C>T (p.Pro60Leu)
|
|
|
|
NM_000465.4(BARD1):c.17A>G (p.Gln6Arg)
|
rs864622229
|
|
|
NM_000465.4(BARD1):c.17A>T (p.Gln6Leu)
|
rs864622229
|
|
|
NM_000465.4(BARD1):c.1800T>G (p.Phe600Leu)
|
rs1693073708
|
|
|
NM_000465.4(BARD1):c.1805G>T (p.Ser602Ile)
|
rs761883180
|
|
|
NM_000465.4(BARD1):c.1806T>C (p.Ser602=)
|
|
|
|
NM_000465.4(BARD1):c.1807A>G (p.Thr603Ala)
|
rs1060501285
|
|
|
NM_000465.4(BARD1):c.1809A>G (p.Thr603=)
|
rs1060501292
|
|
|
NM_000465.4(BARD1):c.1809del (p.Thr603_Val604insTer)
|
rs1553615092
|
|
|
NM_000465.4(BARD1):c.1810+12G>A
|
rs774637532
|
|
|
NM_000465.4(BARD1):c.1810+14A>G
|
rs1693071202
|
|
|
NM_000465.4(BARD1):c.1810+17T>C
|
|
|
|
NM_000465.4(BARD1):c.1810+18T>G
|
|
|
|
NM_000465.4(BARD1):c.1810+19G>A
|
rs2106020476
|
|
|
NM_000465.4(BARD1):c.1810+19G>T
|
|
|
|
NM_000465.4(BARD1):c.1810+1G>A
|
rs876659894
|
|
|
NM_000465.4(BARD1):c.1810+1_1810+32del
|
|
|
|
NM_000465.4(BARD1):c.1810+2T>G
|
rs1234033325
|
|
|
NM_000465.4(BARD1):c.1810+3G>T
|
rs1310430913
|
|
|
NM_000465.4(BARD1):c.1810+4A>C
|
|
|
|
NM_000465.4(BARD1):c.1810+5G>A
|
rs2106020514
|
|
|
NM_000465.4(BARD1):c.1810+6G>T
|
|
|
|
NM_000465.4(BARD1):c.1810+8T>G
|
|
|
|
NM_000465.4(BARD1):c.1810G>A (p.Val604Ile)
|
rs1553615089
|
|
|
NM_000465.4(BARD1):c.1810G>T (p.Val604Leu)
|
|
|
|
NM_000465.4(BARD1):c.1811-10_1811-2del
|
rs879254264
|
|
|
NM_000465.4(BARD1):c.1811-10del
|
|
|
|
NM_000465.4(BARD1):c.1811-13T>C
|
|
|
|
NM_000465.4(BARD1):c.1811-15T>C
|
|
|
|
NM_000465.4(BARD1):c.1811-16T>C
|
rs981727834
|
|
|
NM_000465.4(BARD1):c.1811-16dup
|
rs760333316
|
|
|
NM_000465.4(BARD1):c.1811-17C>T
|
rs1382267929
|
|
|
NM_000465.4(BARD1):c.1811-18G>C
|
rs776145858
|
|
|
NM_000465.4(BARD1):c.1811-1G>A
|
rs879253952
|
|
|
NM_000465.4(BARD1):c.1811-1G>C
|
rs879253952
|
|
|
NM_000465.4(BARD1):c.1811-20C>T
|
rs961766067
|
|
|
NM_000465.4(BARD1):c.1811-20_1811-17delinsTTGT
|
|
|
|
NM_000465.4(BARD1):c.1811-2A>G
|
rs1693044156
|
|
|
NM_000465.4(BARD1):c.1811-8T>C
|
|
|
|
NM_000465.4(BARD1):c.1811-9G>A
|
rs1553614994
|
|
|
NM_000465.4(BARD1):c.1811-9G>C
|
|
|
|
NM_000465.4(BARD1):c.1811-9G>T
|
|
|
|
NM_000465.4(BARD1):c.1813A>G (p.Thr605Ala)
|
rs1693043933
|
|
|
NM_000465.4(BARD1):c.1814C>G (p.Thr605Ser)
|
|
|
|
NM_000465.4(BARD1):c.1814C>T (p.Thr605Ile)
|
rs752292843
|
|
|
NM_000465.4(BARD1):c.1816C>T (p.His606Tyr)
|
rs1559386300
|
|
|
NM_000465.4(BARD1):c.1817A>T (p.His606Leu)
|
|
|
|
NM_000465.4(BARD1):c.1817del (p.His606fs)
|
|
|
|
NM_000465.4(BARD1):c.1818T>G (p.His606Gln)
|
rs199590147
|
|
|
NM_000465.4(BARD1):c.1819G>A (p.Val607Ile)
|
rs1375593475
|
|
|
NM_000465.4(BARD1):c.1819GTT[2] (p.Val609del)
|
rs927014703
|
|
|
NM_000465.4(BARD1):c.1819del (p.Val607fs)
|
|
|
|
NM_000465.4(BARD1):c.181G>A (p.Val61Met)
|
rs2106145664
|
|
|
NM_000465.4(BARD1):c.181G>T (p.Val61Leu)
|
rs2106145664
|
|
|
NM_000465.4(BARD1):c.1820T>A (p.Val607Asp)
|
rs1693042837
|
|
|
NM_000465.4(BARD1):c.1822G>A (p.Val608Ile)
|
rs778987552
|
|
|
NM_000465.4(BARD1):c.1822G>C (p.Val608Leu)
|
|
|
|
NM_000465.4(BARD1):c.1824T>C (p.Val608=)
|
rs1268678327
|
|
|
NM_000465.4(BARD1):c.1825G>A (p.Val609Ile)
|
rs1023863994
|
|
|
NM_000465.4(BARD1):c.1825G>C (p.Val609Leu)
|
rs1023863994
|
|
|
NM_000465.4(BARD1):c.1825G>T (p.Val609Phe)
|
rs1023863994
|
|
|
NM_000465.4(BARD1):c.1827T>C (p.Val609=)
|
rs1470209504
|
|
|
NM_000465.4(BARD1):c.1829C>T (p.Pro610Leu)
|
|
|
|
NM_000465.4(BARD1):c.1829del (p.Pro610fs)
|
rs1693042024
|
|
|
NM_000465.4(BARD1):c.1830T>C (p.Pro610=)
|
|
|
|
NM_000465.4(BARD1):c.1832G>A (p.Gly611Asp)
|
rs1574737448
|
|
|
NM_000465.4(BARD1):c.1832G>T (p.Gly611Val)
|
|
|
|
NM_000465.4(BARD1):c.1833T>G (p.Gly611=)
|
|
|
|
NM_000465.4(BARD1):c.1833dup (p.Asp612Ter)
|
rs1553614963
|
|
|
NM_000465.4(BARD1):c.1834G>A (p.Asp612Asn)
|
|
|
|
NM_000465.4(BARD1):c.1835A>G (p.Asp612Gly)
|
|
|
|
NM_000465.4(BARD1):c.1836T>G (p.Asp612Glu)
|
|
|
|
NM_000465.4(BARD1):c.1838C>G (p.Ala613Gly)
|
|
|
|
NM_000465.4(BARD1):c.1838C>T (p.Ala613Val)
|
rs146629794
|
|
|
NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)
|
|
|
|
NM_000465.4(BARD1):c.1839A>C (p.Ala613=)
|
|
|
|
NM_000465.4(BARD1):c.183G>A (p.Val61=)
|
rs2106145654
|
|
|
NM_000465.4(BARD1):c.1840G>A (p.Val614Ile)
|
rs760541768
|
|
|
NM_000465.4(BARD1):c.1843C>T (p.Gln615Ter)
|
rs751710099
|
|
|
NM_000465.4(BARD1):c.1845A>G (p.Gln615=)
|
rs1693040542
|
|
|
NM_000465.4(BARD1):c.1845A>T (p.Gln615His)
|
rs1693040542
|
|
|
NM_000465.4(BARD1):c.1847G>T (p.Ser616Ile)
|
rs1475259063
|
|
|
NM_000465.4(BARD1):c.1848T>C (p.Ser616=)
|
rs2106018929
|
|
|
NM_000465.4(BARD1):c.184del (p.Cys62fs)
|
rs1559441846
|
|
|
NM_000465.4(BARD1):c.1850C>T (p.Thr617Ile)
|
|
|
|
NM_000465.4(BARD1):c.1851C>G (p.Thr617=)
|
|
|
|
NM_000465.4(BARD1):c.1851C>T (p.Thr617=)
|
|
|
|
NM_000465.4(BARD1):c.1851delinsTG (p.Leu618fs)
|
|
|
|
NM_000465.4(BARD1):c.1852T>A (p.Leu618Met)
|
rs1559386134
|
|
|
NM_000465.4(BARD1):c.1852T>C (p.Leu618=)
|
rs1559386134
|
|
|
NM_000465.4(BARD1):c.1853T>G (p.Leu618Trp)
|
rs1553614952
|
|
|
NM_000465.4(BARD1):c.1854G>A (p.Leu618=)
|
|
|
|
NM_000465.4(BARD1):c.1854G>C (p.Leu618Phe)
|
|
|
|
NM_000465.4(BARD1):c.1854_1855dup (p.Lys619fs)
|
|
|
|
NM_000465.4(BARD1):c.1856A>G (p.Lys619Arg)
|
rs1574737320
|
|
|
NM_000465.4(BARD1):c.1857G>A (p.Lys619=)
|
|
|
|
NM_000465.4(BARD1):c.1857G>C (p.Lys619Asn)
|
|
|
|
NM_000465.4(BARD1):c.1857dup (p.Cys620fs)
|
|
|
|
NM_000465.4(BARD1):c.1858T>C (p.Cys620Arg)
|
rs786203673
|
|
|
NM_000465.4(BARD1):c.1858T>G (p.Cys620Gly)
|
rs786203673
|
|
|
NM_000465.4(BARD1):c.1859G>A (p.Cys620Tyr)
|
rs763018536
|
|
|
NM_000465.4(BARD1):c.185G>A (p.Cys62Tyr)
|
|
|
|
NM_000465.4(BARD1):c.185_186del (p.Cys62fs)
|
rs2106145629
|
|
|
NM_000465.4(BARD1):c.1860T>G (p.Cys620Trp)
|
rs1693039577
|
|
|
NM_000465.4(BARD1):c.1862T>C (p.Met621Thr)
|
rs1574737288
|
|
|
NM_000465.4(BARD1):c.1863G>T (p.Met621Ile)
|
rs587782235
|
|
|
NM_000465.4(BARD1):c.1864C>T (p.Leu622Phe)
|
|
|
|
NM_000465.4(BARD1):c.1865T>C (p.Leu622Pro)
|
|
|
|
NM_000465.4(BARD1):c.1865_1903+274del
|
rs1693019491
|
|
|
NM_000465.4(BARD1):c.1866T>C (p.Leu622=)
|
rs368195514
|
|
|
NM_000465.4(BARD1):c.1867G>C (p.Gly623Arg)
|
rs587780023
|
|
|
NM_000465.4(BARD1):c.1868G>C (p.Gly623Ala)
|
|
|
|
NM_000465.4(BARD1):c.1869G>A (p.Gly623=)
|
|
|
|
NM_000465.4(BARD1):c.186T>C (p.Cys62=)
|
|
|
|
NM_000465.4(BARD1):c.186T>G (p.Cys62Trp)
|
rs1060501281
|
|
|
NM_000465.4(BARD1):c.1870A>G (p.Ile624Val)
|
|
|
|
NM_000465.4(BARD1):c.1872del (p.Leu625fs)
|
rs876659572
|
|
|
NM_000465.4(BARD1):c.1873C>T (p.Leu625Phe)
|
|
|
|
NM_000465.4(BARD1):c.1874T>A (p.Leu625His)
|
rs1217702482
|
|
|
NM_000465.4(BARD1):c.1874T>G (p.Leu625Arg)
|
rs1217702482
|
|
|
NM_000465.4(BARD1):c.1875C>A (p.Leu625=)
|
rs1396679779
|
|
|
NM_000465.4(BARD1):c.1875C>T (p.Leu625=)
|
rs1396679779
|
|
|
NM_000465.4(BARD1):c.1875_1876del (p.Asn626fs)
|
|
|
|
NM_000465.4(BARD1):c.1876A>C (p.Asn626His)
|
rs2106018800
|
|
|
NM_000465.4(BARD1):c.1877A>T (p.Asn626Ile)
|
rs587781443
|
|
|
NM_000465.4(BARD1):c.1878T>A (p.Asn626Lys)
|
rs1553614944
|
|
|
NM_000465.4(BARD1):c.1878T>C (p.Asn626=)
|
|
|
|
NM_000465.4(BARD1):c.187T>G (p.Leu63Val)
|
|
|
|
NM_000465.4(BARD1):c.1881A>G (p.Gly627=)
|
rs968535447
|
|
|
NM_000465.4(BARD1):c.1881A>T (p.Gly627=)
|
|
|
|
NM_000465.4(BARD1):c.1883G>A (p.Cys628Tyr)
|
rs1227794803
|
|
|
NM_000465.4(BARD1):c.1885T>A (p.Trp629Arg)
|
rs1020097535
|
|
|
NM_000465.4(BARD1):c.1885T>C (p.Trp629Arg)
|
rs1020097535
|
|
|
NM_000465.4(BARD1):c.1886G>T (p.Trp629Leu)
|
rs747446711
|
|
|
NM_000465.4(BARD1):c.1887G>A (p.Trp629Ter)
|
rs878854003
|
|
|
NM_000465.4(BARD1):c.1887G>T (p.Trp629Cys)
|
rs878854003
|
|
|
NM_000465.4(BARD1):c.1890T>A (p.Ile630=)
|
rs878854004
|
|
|
NM_000465.4(BARD1):c.1893A>C (p.Leu631=)
|
rs1295646417
|
|
|
NM_000465.4(BARD1):c.1895A>C (p.Lys632Thr)
|
rs1693034407
|
|
|
NM_000465.4(BARD1):c.189A>G (p.Leu63=)
|
rs2106145609
|
|
|
NM_000465.4(BARD1):c.1900G>A (p.Glu634Lys)
|
rs761090896
|
|
|
NM_000465.4(BARD1):c.1900G>T (p.Glu634Ter)
|
|
|
|
NM_000465.4(BARD1):c.1902A>C (p.Glu634Asp)
|
rs1559385976
|
|
|
NM_000465.4(BARD1):c.1902A>G (p.Glu634=)
|
rs1559385976
|
|
|
NM_000465.4(BARD1):c.1902A>T (p.Glu634Asp)
|
|
|
|
NM_000465.4(BARD1):c.1903+10G>C
|
rs772705699
|
|
|
NM_000465.4(BARD1):c.1903+12A>G
|
rs2106018571
|
|
|
NM_000465.4(BARD1):c.1903+16G>C
|
rs1693032325
|
|
|
NM_000465.4(BARD1):c.1903+17A>G
|
rs771914644
|
|
|
NM_000465.4(BARD1):c.1903+18G>A
|
|
|
|
NM_000465.4(BARD1):c.1903+1933C>G
|
|
|
|
NM_000465.4(BARD1):c.1903+1G>A
|
rs876660237
|
|
|
NM_000465.4(BARD1):c.1903+1G>C
|
|
|
|
NM_000465.4(BARD1):c.1903+1G>T
|
rs876660237
|
|
|
NM_000465.4(BARD1):c.1903+1del
|
|
|
|
NM_000465.4(BARD1):c.1903+20G>C
|
|
|
|
NM_000465.4(BARD1):c.1903+20G>T
|
|
|
|
NM_000465.4(BARD1):c.1903+2T>C
|
rs1574737047
|
|
|
NM_000465.4(BARD1):c.1903+2dup
|
rs1693033415
|
|
|
NM_000465.4(BARD1):c.1903+4A>T
|
rs1553614936
|
|
|
NM_000465.4(BARD1):c.1903+5G>A
|
rs2106018600
|
|
|
NM_000465.4(BARD1):c.1903+7G>A
|
|
|
|
NM_000465.4(BARD1):c.1903+8T>A
|
|
|
|
NM_000465.4(BARD1):c.1903+9T>A
|
rs2106018584
|
|
|
NM_000465.4(BARD1):c.1903+9T>C
|
rs2106018584
|
|
|
NM_000465.4(BARD1):c.1903T>A (p.Trp635Arg)
|
rs1693033615
|
|
|
NM_000465.4(BARD1):c.1903T>G (p.Trp635Gly)
|
rs1693033615
|
|
|
NM_000465.4(BARD1):c.1904-11G>A
|
|
|
|
NM_000465.4(BARD1):c.1904-11G>C
|
|
|
|
NM_000465.4(BARD1):c.1904-12_1904-10delinsGGG
|
rs2105990964
|
|
|
NM_000465.4(BARD1):c.1904-13G>A
|
|
|
|
NM_000465.4(BARD1):c.1904-13G>C
|
rs2105990977
|
|
|
NM_000465.4(BARD1):c.1904-13G>T
|
|
|
|
NM_000465.4(BARD1):c.1904-14T>C
|
rs2105990979
|
|
|
NM_000465.4(BARD1):c.1904-17T>A
|
rs1064795448
|
|
|
NM_000465.4(BARD1):c.1904-18T>C
|
|
|
|
NM_000465.4(BARD1):c.1904-1G>A
|
|
|
|
NM_000465.4(BARD1):c.1904-1G>T
|
|
|
|
NM_000465.4(BARD1):c.1904-2A>T
|
rs864622239
|
|
|
NM_000465.4(BARD1):c.1904-2del
|
rs876659560
|
|
|
NM_000465.4(BARD1):c.1904-3C>A
|
|
|
|
NM_000465.4(BARD1):c.1904-3C>T
|
rs876660360
|
|
|
NM_000465.4(BARD1):c.1904-502_*2del
|
|
|
|
NM_000465.4(BARD1):c.1904-5G>C
|
|
|
|
NM_000465.4(BARD1):c.1904-5G>T
|
rs376639978
|
|
|
NM_000465.4(BARD1):c.1904-5del
|
rs2105990939
|
|
|
NM_000465.4(BARD1):c.1904-626G>T
|
rs1172986637
|
|
|
NM_000465.4(BARD1):c.1904-6dup
|
|
|
|
NM_000465.4(BARD1):c.1904-7T>C
|
rs2105990948
|
|
|
NM_000465.4(BARD1):c.1904G>A (p.Trp635Ter)
|
rs1692308262
|
|
|
NM_000465.4(BARD1):c.1904G>T (p.Trp635Leu)
|
rs1692308262
|
|
|
NM_000465.4(BARD1):c.1905G>A (p.Trp635Ter)
|
rs773223671
|
|
|
NM_000465.4(BARD1):c.1905G>C (p.Trp635Cys)
|
|
|
|
NM_000465.4(BARD1):c.1905G>T (p.Trp635Cys)
|
rs773223671
|
|
|
NM_000465.4(BARD1):c.1906G>A (p.Val636Ile)
|
rs1553612541
|
|
|
NM_000465.4(BARD1):c.1908A>G (p.Val636=)
|
rs1574707330
|
|
|
NM_000465.4(BARD1):c.1909A>G (p.Lys637Glu)
|
rs1553612540
|
|
|
NM_000465.4(BARD1):c.1910_1911dup (p.Ala638fs)
|
|
|
|
NM_000465.4(BARD1):c.1911del (p.Ala638fs)
|
|
|
|
NM_000465.4(BARD1):c.1911dup (p.Ala638fs)
|
|
|
|
NM_000465.4(BARD1):c.1912G>A (p.Ala638Thr)
|
rs756136465
|
|
|
NM_000465.4(BARD1):c.1912G>C (p.Ala638Pro)
|
rs756136465
|
|
|
NM_000465.4(BARD1):c.1912G>T (p.Ala638Ser)
|
rs756136465
|
|
|
NM_000465.4(BARD1):c.1913C>T (p.Ala638Val)
|
rs1559374246
|
|
|
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.1914_2001+77del
|
|
|
|
NM_000465.4(BARD1):c.1915T>G (p.Cys639Gly)
|
rs587781376
|
|
|
NM_000465.4(BARD1):c.1916G>A (p.Cys639Tyr)
|
rs2105990862
|
|
|
NM_000465.4(BARD1):c.1918C>A (p.Leu640Ile)
|
rs1553612535
|
|
|
NM_000465.4(BARD1):c.1918C>T (p.Leu640=)
|
rs1553612535
|
|
|
NM_000465.4(BARD1):c.191G>C (p.Gly64Ala)
|
|
|
|
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.1924A>G (p.Arg642Gly)
|
rs765487816
|
|
|
NM_000465.4(BARD1):c.1925G>A (p.Arg642Lys)
|
|
|
|
NM_000465.4(BARD1):c.1925G>T (p.Arg642Ile)
|
rs1420797541
|
|
|
NM_000465.4(BARD1):c.1926A>G (p.Arg642=)
|
rs1553612528
|
|
|
NM_000465.4(BARD1):c.1930G>A (p.Val644Ile)
|
rs2105990789
|
|
|
NM_000465.4(BARD1):c.1931T>C (p.Val644Ala)
|
rs1574707186
|
|
|
NM_000465.4(BARD1):c.1931T>G (p.Val644Gly)
|
rs1574707186
|
|
|
NM_000465.4(BARD1):c.1932A>G (p.Val644=)
|
|
|
|
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer)
|
rs587782504
|
|
|
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.1938A>G (p.Glu646=)
|
rs2105990746
|
|
|
NM_000465.4(BARD1):c.1939C>T (p.Gln647Ter)
|
rs1350570988
|
|
|
NM_000465.4(BARD1):c.1941G>A (p.Gln647=)
|
|
|
|
NM_000465.4(BARD1):c.1944A>G (p.Glu648=)
|
|
|
|
NM_000465.4(BARD1):c.1944del (p.Glu649fs)
|
|
|
|
NM_000465.4(BARD1):c.1945_1946delinsTT (p.Glu649Leu)
|
rs876659046
|
|
|
NM_000465.4(BARD1):c.1947A>G (p.Glu649=)
|
|
|
|
NM_000465.4(BARD1):c.1948A>G (p.Lys650Glu)
|
rs1283527672
|
|
|
NM_000465.4(BARD1):c.1949A>G (p.Lys650Arg)
|
rs876659021
|
|
|
NM_000465.4(BARD1):c.1949del (p.Lys650fs)
|
rs1692302934
|
|
|
NM_000465.4(BARD1):c.1950G>A (p.Lys650=)
|
rs1692302613
|
|
|
NM_000465.4(BARD1):c.1950G>C (p.Lys650Asn)
|
rs1692302613
|
|
|
NM_000465.4(BARD1):c.1954G>A (p.Glu652Lys)
|
rs2105990642
|
|
|
NM_000465.4(BARD1):c.1955A>G (p.Glu652Gly)
|
rs876658395
|
|
|
NM_000465.4(BARD1):c.1957A>G (p.Ile653Val)
|
rs2228455
|
|
|
NM_000465.4(BARD1):c.1959T>C (p.Ile653=)
|
rs1060504194
|
|
|
NM_000465.4(BARD1):c.195A>G (p.Gly65=)
|
|
|
|
NM_000465.4(BARD1):c.195A>T (p.Gly65=)
|
rs1574847294
|
|
|
NM_000465.4(BARD1):c.1960C>G (p.Pro654Ala)
|
rs876658741
|
|
|
NM_000465.4(BARD1):c.1961C>T (p.Pro654Leu)
|
rs587780025
|
|
|
NM_000465.4(BARD1):c.1966G>C (p.Gly656Arg)
|
rs766781362
|
|
|
NM_000465.4(BARD1):c.1966G>T (p.Gly656Cys)
|
rs766781362
|
|
|
NM_000465.4(BARD1):c.1967G>A (p.Gly656Asp)
|
rs572554455
|
|
|
NM_000465.4(BARD1):c.1967G>T (p.Gly656Val)
|
rs572554455
|
|
|
NM_000465.4(BARD1):c.1967_1969dup (p.Gly656_Pro657insArg)
|
rs2105990585
|
|
|
NM_000465.4(BARD1):c.1969C>A (p.Pro657Thr)
|
rs879254244
|
|
|
NM_000465.4(BARD1):c.1970C>T (p.Pro657Leu)
|
rs1559373931
|
|
|
NM_000465.4(BARD1):c.1970del (p.Pro657fs)
|
rs786203739
|
|
|
NM_000465.4(BARD1):c.1972C>G (p.Arg658Gly)
|
rs3738888
|
|
|
NM_000465.4(BARD1):c.1973G>C (p.Arg658Pro)
|
rs377227840
|
|
|
NM_000465.4(BARD1):c.1973G>T (p.Arg658Leu)
|
rs377227840
|
|
|
NM_000465.4(BARD1):c.1974C>A (p.Arg658=)
|
|
|
|
NM_000465.4(BARD1):c.1974C>G (p.Arg658=)
|
|
|
|
NM_000465.4(BARD1):c.1974C>T (p.Arg658=)
|
|
|
|
NM_000465.4(BARD1):c.1975A>G (p.Arg659Gly)
|
rs587782534
|
|
|
NM_000465.4(BARD1):c.1976G>C (p.Arg659Thr)
|
rs1559373888
|
|
|
NM_000465.4(BARD1):c.1979G>A (p.Ser660Asn)
|
rs876658774
|
|
|
NM_000465.4(BARD1):c.1979G>T (p.Ser660Ile)
|
rs876658774
|
|
|
NM_000465.4(BARD1):c.1980C>A (p.Ser660Arg)
|
|
|
|
NM_000465.4(BARD1):c.1980C>T (p.Ser660=)
|
rs1574706765
|
|
|
NM_000465.4(BARD1):c.1981A>G (p.Arg661Gly)
|
rs1060501283
|
|
|
NM_000465.4(BARD1):c.1982G>A (p.Arg661Lys)
|
rs2105990473
|
|
|
NM_000465.4(BARD1):c.1982G>C (p.Arg661Thr)
|
rs2105990473
|
|
|
NM_000465.4(BARD1):c.1983G>A (p.Arg661=)
|
rs1553612481
|
|
|
NM_000465.4(BARD1):c.1983G>T (p.Arg661Ser)
|
|
|
|
NM_000465.4(BARD1):c.1986C>G (p.Leu662=)
|
|
|
|
NM_000465.4(BARD1):c.1986C>T (p.Leu662=)
|
rs1553612477
|
|
|
NM_000465.4(BARD1):c.1989C>A (p.Asn663Lys)
|
rs587782767
|
|
|
NM_000465.4(BARD1):c.1989C>T (p.Asn663=)
|
rs587782767
|
|
|
NM_000465.4(BARD1):c.1991G>A (p.Arg664Lys)
|
rs1574706698
|
|
|
NM_000465.4(BARD1):c.1994A>G (p.Glu665Gly)
|
rs587780026
|
|
|
NM_000465.4(BARD1):c.1995A>G (p.Glu665=)
|
rs2105990404
|
|
|
NM_000465.4(BARD1):c.1996C>G (p.Gln666Glu)
|
rs730881422
|
|
|
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter)
|
rs730881422
|
|
|
NM_000465.4(BARD1):c.1998G>C (p.Gln666His)
|
rs2105990386
|
|
|
NM_000465.4(BARD1):c.1999C>T (p.Leu667=)
|
|
|
|
NM_000465.4(BARD1):c.199del (p.Glu67fs)
|
|
|
|
NM_000465.4(BARD1):c.1A>G (p.Met1Val)
|
|
|
|
NM_000465.4(BARD1):c.2001+13T>C
|
|
|
|
NM_000465.4(BARD1):c.2001+15A>C
|
|
|
|
NM_000465.4(BARD1):c.2001+15A>G
|
|
|
|
NM_000465.4(BARD1):c.2001+15A>T
|
|
|
|
NM_000465.4(BARD1):c.2001+16T>G
|
|
|
|
NM_000465.4(BARD1):c.2001+18C>A
|
|
|
|
NM_000465.4(BARD1):c.2001+18C>T
|
rs745780723
|
|
|
NM_000465.4(BARD1):c.2001+19A>G
|
rs2105990326
|
|
|
NM_000465.4(BARD1):c.2001+1G>A
|
rs768490891
|
|
|
NM_000465.4(BARD1):c.2001+1G>C
|
rs768490891
|
|
|
NM_000465.4(BARD1):c.2001+1G>T
|
rs768490891
|
|
|
NM_000465.4(BARD1):c.2001+20A>G
|
rs1236240321
|
|
|
NM_000465.4(BARD1):c.2001+20A>T
|
rs1236240321
|
|
|
NM_000465.4(BARD1):c.2001+3A>G
|
rs1553612461
|
|
|
NM_000465.4(BARD1):c.2001+3_2001+6del
|
rs1559373773
|
|
|
NM_000465.4(BARD1):c.2001+5T>G
|
rs1692296244
|
|
|
NM_000465.4(BARD1):c.2001+6_2001+8del
|
rs778163347
|
|
|
NM_000465.4(BARD1):c.2001+8T>G
|
|
|
|
NM_000465.4(BARD1):c.2001+9C>G
|
rs2105990348
|
|
|
NM_000465.4(BARD1):c.2002-10A>C
|
|
|
|
NM_000465.4(BARD1):c.2002-10A>G
|
rs199758343
|
|
|
NM_000465.4(BARD1):c.2002-10A>T
|
rs199758343
|
|
|
NM_000465.4(BARD1):c.2002-11_2002-10delinsTC
|
|
|
|
NM_000465.4(BARD1):c.2002-12T>C
|
|
|
|
NM_000465.4(BARD1):c.2002-13C>T
|
|
|
|
NM_000465.4(BARD1):c.2002-14T>A
|
|
|
|
NM_000465.4(BARD1):c.2002-15T>C
|
rs1692232291
|
|
|
NM_000465.4(BARD1):c.2002-18G>A
|
|
|
|
NM_000465.4(BARD1):c.2002-18G>C
|
|
|
|
NM_000465.4(BARD1):c.2002-1G>A
|
rs762601855
|
|
|
NM_000465.4(BARD1):c.2002-1G>C
|
rs762601855
|
|
|
NM_000465.4(BARD1):c.2002-1G>T
|
|
|
|
NM_000465.4(BARD1):c.2002-2A>C
|
rs876658260
|
|
|
NM_000465.4(BARD1):c.2002-2A>G
|
rs876658260
|
|
|
NM_000465.4(BARD1):c.2002-2A>T
|
rs876658260
|
|
|
NM_000465.4(BARD1):c.2002-3C>T
|
rs1692231658
|
|
|
NM_000465.4(BARD1):c.2002-5T>C
|
|
|
|
NM_000465.4(BARD1):c.2002-6T>G
|
|
|
|
NM_000465.4(BARD1):c.2002-8T>C
|
|
|
|
NM_000465.4(BARD1):c.2002-9T>C
|
rs2105988074
|
|
|
NM_000465.4(BARD1):c.2003T>A (p.Leu668Ter)
|
rs2105988065
|
|
|
NM_000465.4(BARD1):c.2006C>T (p.Pro669Leu)
|
rs2105988052
|
|
|
NM_000465.4(BARD1):c.2007A>G (p.Pro669=)
|
|
|
|
NM_000465.4(BARD1):c.2008A>C (p.Lys670Gln)
|
|
|
|
NM_000465.4(BARD1):c.2009A>C (p.Lys670Thr)
|
rs769302736
|
|
|
NM_000465.4(BARD1):c.2010G>A (p.Lys670=)
|
|
|
|
NM_000465.4(BARD1):c.2012T>C (p.Leu671Pro)
|
|
|
|
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.2014T>A (p.Phe672Ile)
|
|
|
|
NM_000465.4(BARD1):c.2016T>C (p.Phe672=)
|
|
|
|
NM_000465.4(BARD1):c.2017G>T (p.Asp673Tyr)
|
rs1553612232
|
|
|
NM_000465.4(BARD1):c.2018A>G (p.Asp673Gly)
|
|
|
|
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter)
|
rs1328046615
|
|
|
NM_000465.4(BARD1):c.2020_2022dup (p.Gly674dup)
|
rs1553612228
|
|
|
NM_000465.4(BARD1):c.2021G>A (p.Gly674Glu)
|
rs1692229510
|
|
|
NM_000465.4(BARD1):c.2021G>T (p.Gly674Val)
|
rs1692229510
|
|
|
NM_000465.4(BARD1):c.2022A>G (p.Gly674=)
|
rs1574703887
|
|
|
NM_000465.4(BARD1):c.2024G>A (p.Cys675Tyr)
|
rs2105987963
|
|
|
NM_000465.4(BARD1):c.2024del (p.Cys675fs)
|
rs2105987971
|
|
|
NM_000465.4(BARD1):c.2026T>A (p.Tyr676Asn)
|
rs1553612227
|
|
|
NM_000465.4(BARD1):c.2027A>C (p.Tyr676Ser)
|
rs770917842
|
|
|
NM_000465.4(BARD1):c.2027A>G (p.Tyr676Cys)
|
rs770917842
|
|
|
NM_000465.4(BARD1):c.2030T>A (p.Phe677Tyr)
|
rs1259167680
|
|
|
NM_000465.4(BARD1):c.2031C>T (p.Phe677=)
|
rs573443019
|
|
|
NM_000465.4(BARD1):c.2032T>C (p.Tyr678His)
|
rs1574703830
|
|
|
NM_000465.4(BARD1):c.2033_2035del (p.Tyr678del)
|
|
|
|
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.2037G>A (p.Leu679=)
|
rs1463082550
|
|
|
NM_000465.4(BARD1):c.2038T>C (p.Trp680Arg)
|
rs2105987880
|
|
|
NM_000465.4(BARD1):c.2038_2042del (p.Trp680fs)
|
rs1553612222
|
|
|
NM_000465.4(BARD1):c.2040G>A (p.Trp680Ter)
|
|
|
|
NM_000465.4(BARD1):c.2042G>A (p.Gly681Glu)
|
rs1327571102
|
|
|
NM_000465.4(BARD1):c.2044A>C (p.Thr682Pro)
|
rs749485640
|
|
|
NM_000465.4(BARD1):c.2044A>G (p.Thr682Ala)
|
rs749485640
|
|
|
NM_000465.4(BARD1):c.2045C>A (p.Thr682Asn)
|
rs1559372592
|
|
|
NM_000465.4(BARD1):c.2046C>G (p.Thr682=)
|
rs1559372586
|
|
|
NM_000465.4(BARD1):c.2048T>G (p.Phe683Cys)
|
|
|
|
NM_000465.4(BARD1):c.204C>G (p.His68Gln)
|
rs1695791038
|
|
|
NM_000465.4(BARD1):c.204C>T (p.His68=)
|
rs1695791038
|
|
|
NM_000465.4(BARD1):c.2050A>G (p.Lys684Glu)
|
rs1559372578
|
|
|
NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter)
|
rs1559372578
|
|
|
NM_000465.4(BARD1):c.2051A>C (p.Lys684Thr)
|
rs780161956
|
|
|
NM_000465.4(BARD1):c.2053C>G (p.His685Asp)
|
rs1574703727
|
|
|
NM_000465.4(BARD1):c.2055C>G (p.His685Gln)
|
|
|
|
NM_000465.4(BARD1):c.2056_2067del (p.His686_Asp689del)
|
|
|
|
NM_000465.4(BARD1):c.2058T>C (p.His686=)
|
|
|
|
NM_000465.4(BARD1):c.2058_2061del (p.His686fs)
|
rs2105987749
|
|
|
NM_000465.4(BARD1):c.2059C>T (p.Pro687Ser)
|
rs1553612216
|
|
|
NM_000465.4(BARD1):c.2060C>T (p.Pro687Leu)
|
rs2105987758
|
|
|
NM_000465.4(BARD1):c.2061A>G (p.Pro687=)
|
|
|
|
NM_000465.4(BARD1):c.2063dup (p.Asp689fs)
|
rs1064796026
|
|
|
NM_000465.4(BARD1):c.2064G>A (p.Lys688=)
|
rs1553612214
|
|
|
NM_000465.4(BARD1):c.2064G>C (p.Lys688Asn)
|
rs1553612214
|
|
|
NM_000465.4(BARD1):c.2067C>A (p.Asp689Glu)
|
rs1692224260
|
|
|
NM_000465.4(BARD1):c.2067C>T (p.Asp689=)
|
rs1692224260
|
|
|
NM_000465.4(BARD1):c.2068_2070dup (p.Asn690dup)
|
rs1692224140
|
|
|
NM_000465.4(BARD1):c.2069A>G (p.Asn690Ser)
|
rs2105987704
|
|
|
NM_000465.4(BARD1):c.206TCT[1] (p.Phe70del)
|
rs1060501268
|
|
|
NM_000465.4(BARD1):c.2070C>A (p.Asn690Lys)
|
rs1574703626
|
|
|
NM_000465.4(BARD1):c.2070C>T (p.Asn690=)
|
rs1574703626
|
|
|
NM_000465.4(BARD1):c.2071C>A (p.Leu691Ile)
|
rs1036838204
|
|
|
NM_000465.4(BARD1):c.2073T>G (p.Leu691=)
|
rs2105987671
|
|
|
NM_000465.4(BARD1):c.2074A>C (p.Ile692Leu)
|
rs1574703604
|
|
|
NM_000465.4(BARD1):c.2074A>G (p.Ile692Val)
|
|
|
|
NM_000465.4(BARD1):c.2076T>A (p.Ile692=)
|
rs587781316
|
|
|
NM_000465.4(BARD1):c.2078dup (p.Leu694fs)
|
rs1553612205
|
|
|
NM_000465.4(BARD1):c.2079G>A (p.Lys693=)
|
rs1553612204
|
|
|
NM_000465.4(BARD1):c.2085C>T (p.Val695=)
|
rs2105987601
|
|
|
NM_000465.4(BARD1):c.2086A>G (p.Thr696Ala)
|
|
|
|
NM_000465.4(BARD1):c.2087C>T (p.Thr696Ile)
|
rs1289051833
|
|
|
NM_000465.4(BARD1):c.208T>G (p.Phe70Val)
|
|
|
|
NM_000465.4(BARD1):c.2091A>C (p.Ala697=)
|
rs786201573
|
|
|
NM_000465.4(BARD1):c.2091A>T (p.Ala697=)
|
rs786201573
|
|
|
NM_000465.4(BARD1):c.2092G>A (p.Gly698Ser)
|
rs1559372428
|
|
|
NM_000465.4(BARD1):c.2092G>C (p.Gly698Arg)
|
|
|
|
NM_000465.4(BARD1):c.2093G>A (p.Gly698Asp)
|
rs1553612188
|
|
|
NM_000465.4(BARD1):c.2093G>C (p.Gly698Ala)
|
rs1553612188
|
|
|
NM_000465.4(BARD1):c.2093G>T (p.Gly698Val)
|
rs1553612188
|
|
|
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.2095G>C (p.Gly699Arg)
|
rs730881423
|
|
|
NM_000465.4(BARD1):c.2096G>A (p.Gly699Glu)
|
rs1196348283
|
|
|
NM_000465.4(BARD1):c.2096G>C (p.Gly699Ala)
|
rs1196348283
|
|
|
NM_000465.4(BARD1):c.2097G>A (p.Gly699=)
|
rs876659210
|
|
|
NM_000465.4(BARD1):c.2097G>C (p.Gly699=)
|
|
|
|
NM_000465.4(BARD1):c.2097G>T (p.Gly699=)
|
rs876659210
|
|
|
NM_000465.4(BARD1):c.2098_2099dup (p.Gln701fs)
|
|
|
|
NM_000465.4(BARD1):c.2099G>A (p.Gly700Asp)
|
rs2105987498
|
|
|
NM_000465.4(BARD1):c.2099del (p.Gly700fs)
|
rs1553612184
|
|
|
NM_000465.4(BARD1):c.2099dup (p.Gln701fs)
|
|
|
|
NM_000465.4(BARD1):c.209T>C (p.Phe70Ser)
|
rs1695790654
|
|
|
NM_000465.4(BARD1):c.209T>G (p.Phe70Cys)
|
rs1695790654
|
|
|
NM_000465.4(BARD1):c.20C>G (p.Pro7Arg)
|
rs1696475875
|
|
|
NM_000465.4(BARD1):c.2100C>T (p.Gly700=)
|
rs1692220418
|
|
|
NM_000465.4(BARD1):c.2101C>T (p.Gln701Ter)
|
rs587782348
|
|
|
NM_000465.4(BARD1):c.2102A>T (p.Gln701Leu)
|
rs1553612182
|
|
|
NM_000465.4(BARD1):c.2104A>G (p.Ile702Val)
|
rs587782415
|
|
|
NM_000465.4(BARD1):c.2104_2111del (p.Gln701_Ile702insTer)
|
|
|
|
NM_000465.4(BARD1):c.2105T>C (p.Ile702Thr)
|
rs752114855
|
|
|
NM_000465.4(BARD1):c.2106C>G (p.Ile702Met)
|
rs1559372357
|
|
|
NM_000465.4(BARD1):c.2106C>T (p.Ile702=)
|
|
|
|
NM_000465.4(BARD1):c.2107C>T (p.Leu703Phe)
|
rs1060501303
|
|
|
NM_000465.4(BARD1):c.2109C>G (p.Leu703=)
|
|
|
|
NM_000465.4(BARD1):c.2109C>T (p.Leu703=)
|
rs2105987417
|
|
|
NM_000465.4(BARD1):c.2109del (p.Ser704fs)
|
rs2105987421
|
|
|
NM_000465.4(BARD1):c.210C>G (p.Phe70Leu)
|
|
|
|
NM_000465.4(BARD1):c.2110A>G (p.Ser704Gly)
|
rs876658687
|
|
|
NM_000465.4(BARD1):c.2111G>A (p.Ser704Asn)
|
rs764477334
|
|
|
NM_000465.4(BARD1):c.2112T>C (p.Ser704=)
|
|
|
|
NM_000465.4(BARD1):c.2113A>G (p.Arg705Gly)
|
rs1064795005
|
|
|
NM_000465.4(BARD1):c.2114G>A (p.Arg705Lys)
|
|
|
|
NM_000465.4(BARD1):c.2114G>C (p.Arg705Thr)
|
rs2105987389
|
|
|
NM_000465.4(BARD1):c.2116A>C (p.Lys706Gln)
|
rs149262370
|
|
|
NM_000465.4(BARD1):c.2117A>G (p.Lys706Arg)
|
rs864622716
|
|
|
NM_000465.4(BARD1):c.2118G>A (p.Lys706=)
|
rs2105987367
|
|
|
NM_000465.4(BARD1):c.2119C>A (p.Pro707Thr)
|
rs1045454971
|
|
|
NM_000465.4(BARD1):c.2119C>T (p.Pro707Ser)
|
rs1045454971
|
|
|
NM_000465.4(BARD1):c.211T>A (p.Cys71Ser)
|
rs1060501308
|
|
|
NM_000465.4(BARD1):c.211T>G (p.Cys71Gly)
|
rs1060501308
|
|
|
NM_000465.4(BARD1):c.2120C>G (p.Pro707Arg)
|
|
|
|
NM_000465.4(BARD1):c.2120C>T (p.Pro707Leu)
|
rs1574703290
|
|
|
NM_000465.4(BARD1):c.2121C>G (p.Pro707=)
|
rs1574703281
|
|
|
NM_000465.4(BARD1):c.2122_2124delinsCC (p.Lys708fs)
|
rs1692217798
|
|
|
NM_000465.4(BARD1):c.2124G>A (p.Lys708=)
|
|
|
|
NM_000465.4(BARD1):c.2125C>T (p.Pro709Ser)
|
rs1040231633
|
|
|
NM_000465.4(BARD1):c.2126C>T (p.Pro709Leu)
|
rs786203474
|
|
|
NM_000465.4(BARD1):c.2126dup (p.Asp710fs)
|
|
|
|
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.212G>C (p.Cys71Ser)
|
|
|
|
NM_000465.4(BARD1):c.2130C>T (p.Asp710=)
|
|
|
|
NM_000465.4(BARD1):c.2131A>C (p.Ser711Arg)
|
|
|
|
NM_000465.4(BARD1):c.2133T>C (p.Ser711=)
|
|
|
|
NM_000465.4(BARD1):c.2135A>G (p.Asp712Gly)
|
rs2105987279
|
|
|
NM_000465.4(BARD1):c.2137G>T (p.Val713Leu)
|
rs546077003
|
|
|
NM_000465.4(BARD1):c.2137_2141del (p.Val713fs)
|
|
|
|
NM_000465.4(BARD1):c.2138T>G (p.Val713Gly)
|
rs876658193
|
|
|
NM_000465.4(BARD1):c.2138_2140dup (p.Val713_Thr714insMet)
|
rs878854005
|
|
|
NM_000465.4(BARD1):c.2138del (p.Val713fs)
|
|
|
|
NM_000465.4(BARD1):c.2139G>A (p.Val713=)
|
|
|
|
NM_000465.4(BARD1):c.213T>C (p.Cys71=)
|
|
|
|
NM_000465.4(BARD1):c.2142T>A (p.Thr714=)
|
|
|
|
NM_000465.4(BARD1):c.2143C>G (p.Gln715Glu)
|
rs1553612164
|
|
|
NM_000465.4(BARD1):c.2143C>T (p.Gln715Ter)
|
rs1553612164
|
|
|
NM_000465.4(BARD1):c.2144A>G (p.Gln715Arg)
|
|
|
|
NM_000465.4(BARD1):c.2144dup (p.Thr716fs)
|
rs1574703115
|
|
|
NM_000465.4(BARD1):c.2148C>A (p.Thr716=)
|
|
|
|
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs)
|
rs786203811
|
|
|
NM_000465.4(BARD1):c.2149A>C (p.Ile717Leu)
|
|
|
|
NM_000465.4(BARD1):c.2149A>G (p.Ile717Val)
|
|
|
|
NM_000465.4(BARD1):c.215+10T>C
|
|
|
|
NM_000465.4(BARD1):c.215+10T>G
|
|
|
|
NM_000465.4(BARD1):c.215+13G>A
|
rs886055601
|
|
|
NM_000465.4(BARD1):c.215+14G>A
|
rs1057520992
|
|
|
NM_000465.4(BARD1):c.215+14G>T
|
|
|
|
NM_000465.4(BARD1):c.215+18G>C
|
rs2106145442
|
|
|
NM_000465.4(BARD1):c.215+19A>C
|
rs2106145433
|
|
|
NM_000465.4(BARD1):c.215+1G>A
|
rs2106145519
|
|
|
NM_000465.4(BARD1):c.215+20T>C
|
rs200715720
|
|
|
NM_000465.4(BARD1):c.215+2T>A
|
|
|
|
NM_000465.4(BARD1):c.215+2T>C
|
rs1559441760
|
|
|
NM_000465.4(BARD1):c.215+3A>G
|
rs1695789652
|
|
|
NM_000465.4(BARD1):c.215+4A>G
|
rs1236748799
|
|
|
NM_000465.4(BARD1):c.215+5G>C
|
|
|
|
NM_000465.4(BARD1):c.215+5_215+8del
|
rs876658777
|
|
|
NM_000465.4(BARD1):c.215+7A>C
|
rs1241658352
|
|
|
NM_000465.4(BARD1):c.215+7A>G
|
|
|
|
NM_000465.4(BARD1):c.215+8A>C
|
|
|
|
NM_000465.4(BARD1):c.215+8A>G
|
|
|
|
NM_000465.4(BARD1):c.215+8A>T
|
rs2106145474
|
|
|
NM_000465.4(BARD1):c.215+9T>G
|
rs1559441723
|
|
|
NM_000465.4(BARD1):c.2150T>A (p.Ile717Asn)
|
rs876658526
|
|
|
NM_000465.4(BARD1):c.2150T>G (p.Ile717Ser)
|
rs876658526
|
|
|
NM_000465.4(BARD1):c.2151C>T (p.Ile717=)
|
rs1553612158
|
|
|
NM_000465.4(BARD1):c.2154T>C (p.Asn718=)
|
|
|
|
NM_000465.4(BARD1):c.2157A>G (p.Thr719=)
|
rs1574703001
|
|
|
NM_000465.4(BARD1):c.2157_2160dup (p.Ala721fs)
|
|
|
|
NM_000465.4(BARD1):c.2157_2166del (p.Val720fs)
|
|
|
|
NM_000465.4(BARD1):c.2158G>T (p.Val720Phe)
|
rs786203188
|
|
|
NM_000465.4(BARD1):c.2159_2172del (p.Val720fs)
|
rs1692211675
|
|
|
NM_000465.4(BARD1):c.215G>T (p.Ser72Ile)
|
rs769820924
|
|
|
NM_000465.4(BARD1):c.216-10T>C
|
rs2106135644
|
|
|
NM_000465.4(BARD1):c.216-10_216-5del
|
rs2106135604
|
|
|
NM_000465.4(BARD1):c.216-11T>C
|
rs2106135656
|
|
|
NM_000465.4(BARD1):c.216-12A>T
|
rs199846428
|
|
|
NM_000465.4(BARD1):c.216-12del
|
rs768266538
|
|
|
NM_000465.4(BARD1):c.216-13_216-12del
|
rs1491038786
|
|
|
NM_000465.4(BARD1):c.216-13dup
|
rs768266538
|
|
|
NM_000465.4(BARD1):c.216-14T>A
|
rs775103922
|
|
|
NM_000465.4(BARD1):c.216-14T>C
|
rs775103922
|
|
|
NM_000465.4(BARD1):c.216-14_216-10del
|
rs2106135648
|
|
|
NM_000465.4(BARD1):c.216-14_216-7delinsAA
|
rs1695570677
|
|
|
NM_000465.4(BARD1):c.216-14del
|
rs56130510
|
|
|
NM_000465.4(BARD1):c.216-15T>C
|
|
|
|
NM_000465.4(BARD1):c.216-15_216-14delinsC
|
|
|
|
NM_000465.4(BARD1):c.216-15_216-14insA
|
|
|
|
NM_000465.4(BARD1):c.216-19_216-18insG
|
rs1553624868
|
|
|
NM_000465.4(BARD1):c.216-1G>A
|
rs876658905
|
|
|
NM_000465.4(BARD1):c.216-1G>C
|
|
|
|
NM_000465.4(BARD1):c.216-1G>T
|
|
|
|
NM_000465.4(BARD1):c.216-20T>C
|
|
|
|
NM_000465.4(BARD1):c.216-2A>G
|
rs2106135562
|
|
|
NM_000465.4(BARD1):c.216-4A>T
|
rs1574840094
|
|
|
NM_000465.4(BARD1):c.216-5T>A
|
|
|
|
NM_000465.4(BARD1):c.216-5T>C
|
|
|
|
NM_000465.4(BARD1):c.216-6T>A
|
rs1695570324
|
|
|
NM_000465.4(BARD1):c.216-6T>G
|
|
|
|
NM_000465.4(BARD1):c.216-8T>C
|
rs1064795148
|
|
|
NM_000465.4(BARD1):c.216-8_216-4del
|
rs1559437347
|
|
|
NM_000465.4(BARD1):c.216-9A>T
|
rs759575504
|
|
|
NM_000465.4(BARD1):c.2160C>T (p.Val720=)
|
rs137888190
|
|
|
NM_000465.4(BARD1):c.2161G>T (p.Ala721Ser)
|
rs554708247
|
|
|
NM_000465.4(BARD1):c.2162C>G (p.Ala721Gly)
|
rs1692212919
|
|
|
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.2164T>C (p.Tyr722His)
|
rs1553612144
|
|
|
NM_000465.4(BARD1):c.2164_2200del (p.Tyr722fs)
|
|
|
|
NM_000465.4(BARD1):c.2166C>A (p.Tyr722Ter)
|
rs2105987094
|
|
|
NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter)
|
|
|
|
NM_000465.4(BARD1):c.2166C>T (p.Tyr722=)
|
|
|
|
NM_000465.4(BARD1):c.2167C>T (p.His723Tyr)
|
rs1245669447
|
|
|
NM_000465.4(BARD1):c.2168A>G (p.His723Arg)
|
rs1553612140
|
|
|
NM_000465.4(BARD1):c.2169T>C (p.His723=)
|
rs779808630
|
|
|
NM_000465.4(BARD1):c.2170G>A (p.Ala724Thr)
|
rs2105987075
|
|
|
NM_000465.4(BARD1):c.2171C>A (p.Ala724Glu)
|
rs587782662
|
|
|
NM_000465.4(BARD1):c.2171C>G (p.Ala724Gly)
|
rs587782662
|
|
|
NM_000465.4(BARD1):c.2172G>A (p.Ala724=)
|
rs143331809
|
|
|
NM_000465.4(BARD1):c.2172G>C (p.Ala724=)
|
|
|
|
NM_000465.4(BARD1):c.2174G>A (p.Arg725Lys)
|
|
|
|
NM_000465.4(BARD1):c.2174G>C (p.Arg725Thr)
|
rs1559372078
|
|
|
NM_000465.4(BARD1):c.2174G>T (p.Arg725Ile)
|
rs1559372078
|
|
|
NM_000465.4(BARD1):c.2175A>G (p.Arg725=)
|
rs747466434
|
|
|
NM_000465.4(BARD1):c.2178C>A (p.Pro726=)
|
|
|
|
NM_000465.4(BARD1):c.2178C>G (p.Pro726=)
|
rs201873551
|
|
|
NM_000465.4(BARD1):c.2178del (p.Asp727fs)
|
|
|
|
NM_000465.4(BARD1):c.217A>G (p.Asn73Asp)
|
rs1553624840
|
|
|
NM_000465.4(BARD1):c.217_220del (p.Asn73fs)
|
|
|
|
NM_000465.4(BARD1):c.2180A>G (p.Asp727Gly)
|
rs753074107
|
|
|
NM_000465.4(BARD1):c.2180A>T (p.Asp727Val)
|
rs753074107
|
|
|
NM_000465.4(BARD1):c.2184T>A (p.Ser728=)
|
|
|
|
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.2185G>C (p.Asp729His)
|
rs1443031799
|
|
|
NM_000465.4(BARD1):c.2186A>G (p.Asp729Gly)
|
rs1337993937
|
|
|
NM_000465.4(BARD1):c.2186A>T (p.Asp729Val)
|
rs1337993937
|
|
|
NM_000465.4(BARD1):c.2187T>C (p.Asp729=)
|
rs1574702715
|
|
|
NM_000465.4(BARD1):c.2188C>A (p.Gln730Lys)
|
rs1559372004
|
|
|
NM_000465.4(BARD1):c.2188C>G (p.Gln730Glu)
|
rs1559372004
|
|
|
NM_000465.4(BARD1):c.2188C>T (p.Gln730Ter)
|
|
|
|
NM_000465.4(BARD1):c.2189A>C (p.Gln730Pro)
|
rs876658253
|
|
|
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)
|
rs76744638
|
|
|
NM_000465.4(BARD1):c.2191C>T (p.Arg731Cys)
|
rs76744638
|
|
|
NM_000465.4(BARD1):c.2192G>A (p.Arg731His)
|
rs587782248
|
|
|
NM_000465.4(BARD1):c.2192G>C (p.Arg731Pro)
|
rs587782248
|
|
|
NM_000465.4(BARD1):c.2193C>T (p.Arg731=)
|
rs2105986897
|
|
|
NM_000465.4(BARD1):c.2195T>A (p.Phe732Tyr)
|
rs760201905
|
|
|
NM_000465.4(BARD1):c.2195T>C (p.Phe732Ser)
|
rs760201905
|
|
|
NM_000465.4(BARD1):c.2195T>G (p.Phe732Cys)
|
rs760201905
|
|
|
NM_000465.4(BARD1):c.2195del (p.Phe732fs)
|
|
|
|
NM_000465.4(BARD1):c.2196C>G (p.Phe732Leu)
|
rs1553612117
|
|
|
NM_000465.4(BARD1):c.2197T>C (p.Cys733Arg)
|
rs977584514
|
|
|
NM_000465.4(BARD1):c.2198G>A (p.Cys733Tyr)
|
|
|
|
NM_000465.4(BARD1):c.219T>C (p.Asn73=)
|
|
|
|
NM_000465.4(BARD1):c.21G>C (p.Pro7=)
|
|
|
|
NM_000465.4(BARD1):c.2200A>C (p.Thr734Pro)
|
|
|
|
NM_000465.4(BARD1):c.2200A>G (p.Thr734Ala)
|
rs1553612113
|
|
|
NM_000465.4(BARD1):c.2201C>T (p.Thr734Ile)
|
rs1559371927
|
|
|
NM_000465.4(BARD1):c.2203C>G (p.Gln735Glu)
|
|
|
|
NM_000465.4(BARD1):c.2203C>T (p.Gln735Ter)
|
|
|
|
NM_000465.4(BARD1):c.2204A>C (p.Gln735Pro)
|
rs1692206255
|
|
|
NM_000465.4(BARD1):c.2204A>G (p.Gln735Arg)
|
rs1692206255
|
|
|
NM_000465.4(BARD1):c.2204_2205insTA (p.Gln735fs)
|
|
|
|
NM_000465.4(BARD1):c.2205G>A (p.Gln735=)
|
rs1574702556
|
|
|
NM_000465.4(BARD1):c.2206T>A (p.Tyr736Asn)
|
rs1559371905
|
|
|
NM_000465.4(BARD1):c.2206T>C (p.Tyr736His)
|
rs1559371905
|
|
|
NM_000465.4(BARD1):c.2206T>G (p.Tyr736Asp)
|
rs1559371905
|
|
|
NM_000465.4(BARD1):c.2207A>G (p.Tyr736Cys)
|
rs587780028
|
|
|
NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter)
|
rs2105986813
|
|
|
NM_000465.4(BARD1):c.220T>C (p.Cys74Arg)
|
rs1574840055
|
|
|
NM_000465.4(BARD1):c.220T>G (p.Cys74Gly)
|
rs1574840055
|
|
|
NM_000465.4(BARD1):c.2210T>C (p.Ile737Thr)
|
rs1692205410
|
|
|
NM_000465.4(BARD1):c.2211C>A (p.Ile737=)
|
|
|
|
NM_000465.4(BARD1):c.2214C>T (p.Ile738=)
|
|
|
|
NM_000465.4(BARD1):c.2215T>C (p.Tyr739His)
|
|
|
|
NM_000465.4(BARD1):c.2215T>G (p.Tyr739Asp)
|
rs876660746
|
|
|
NM_000465.4(BARD1):c.2215dup (p.Tyr739fs)
|
|
|
|
NM_000465.4(BARD1):c.2216A>C (p.Tyr739Ser)
|
rs777013688
|
|
|
NM_000465.4(BARD1):c.2216A>G (p.Tyr739Cys)
|
rs777013688
|
|
|
NM_000465.4(BARD1):c.2217T>C (p.Tyr739=)
|
rs1057522854
|
|
|
NM_000465.4(BARD1):c.2218G>A (p.Glu740Lys)
|
rs1692204026
|
|
|
NM_000465.4(BARD1):c.2218G>T (p.Glu740Ter)
|
rs1692204026
|
|
|
NM_000465.4(BARD1):c.221G>A (p.Cys74Tyr)
|
rs876658459
|
|
|
NM_000465.4(BARD1):c.221G>C (p.Cys74Ser)
|
rs876658459
|
|
|
NM_000465.4(BARD1):c.221G>T (p.Cys74Phe)
|
rs876658459
|
|
|
NM_000465.4(BARD1):c.2220A>G (p.Glu740=)
|
rs1692203895
|
|
|
NM_000465.4(BARD1):c.2221G>A (p.Asp741Asn)
|
|
|
|
NM_000465.4(BARD1):c.2221G>C (p.Asp741His)
|
rs587780029
|
|
|
NM_000465.4(BARD1):c.2221G>T (p.Asp741Tyr)
|
rs587780029
|
|
|
NM_000465.4(BARD1):c.2222A>G (p.Asp741Gly)
|
rs1553612090
|
|
|
NM_000465.4(BARD1):c.2223T>C (p.Asp741=)
|
rs1692203425
|
|
|
NM_000465.4(BARD1):c.2224T>G (p.Leu742Val)
|
rs876659765
|
|
|
NM_000465.4(BARD1):c.2226G>A (p.Leu742=)
|
rs1064793606
|
|
|
NM_000465.4(BARD1):c.2226G>C (p.Leu742Phe)
|
rs1064793606
|
|
|
NM_000465.4(BARD1):c.2227T>C (p.Cys743Arg)
|
rs1553612082
|
|
|
NM_000465.4(BARD1):c.2228G>A (p.Cys743Tyr)
|
rs1395245809
|
|
|
NM_000465.4(BARD1):c.2228del (p.Cys743fs)
|
|
|
|
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter)
|
rs1259296823
|
|
|
NM_000465.4(BARD1):c.222T>C (p.Cys74=)
|
rs1168791343
|
|
|
NM_000465.4(BARD1):c.2230A>G (p.Asn744Asp)
|
rs1553612078
|
|
|
NM_000465.4(BARD1):c.2232T>G (p.Asn744Lys)
|
rs1692202278
|
|
|
NM_000465.4(BARD1):c.2233T>C (p.Tyr745His)
|
rs771109295
|
|
|
NM_000465.4(BARD1):c.2233T>G (p.Tyr745Asp)
|
rs771109295
|
|
|
NM_000465.4(BARD1):c.2234A>C (p.Tyr745Ser)
|
rs1692201900
|
|
|
NM_000465.4(BARD1):c.2234A>G (p.Tyr745Cys)
|
|
|
|
NM_000465.4(BARD1):c.2235T>A (p.Tyr745Ter)
|
|
|
|
NM_000465.4(BARD1):c.2235del (p.His746fs)
|
rs2105986664
|
|
|
NM_000465.4(BARD1):c.2237A>G (p.His746Arg)
|
rs878854007
|
|
|
NM_000465.4(BARD1):c.2238C>T (p.His746=)
|
|
|
|
NM_000465.4(BARD1):c.2239C>A (p.Pro747Thr)
|
rs1574702322
|
|
|
NM_000465.4(BARD1):c.2239C>G (p.Pro747Ala)
|
rs1574702322
|
|
|
NM_000465.4(BARD1):c.2239C>T (p.Pro747Ser)
|
rs1574702322
|
|
|
NM_000465.4(BARD1):c.223G>A (p.Val75Ile)
|
rs1559437285
|
|
|
NM_000465.4(BARD1):c.223G>C (p.Val75Leu)
|
rs1559437285
|
|
|
NM_000465.4(BARD1):c.223G>T (p.Val75Leu)
|
|
|
|
NM_000465.4(BARD1):c.2240C>G (p.Pro747Arg)
|
rs1348871714
|
|
|
NM_000465.4(BARD1):c.2241A>G (p.Pro747=)
|
|
|
|
NM_000465.4(BARD1):c.2242G>A (p.Glu748Lys)
|
rs879253880
|
|
|
NM_000465.4(BARD1):c.2242G>C (p.Glu748Gln)
|
rs879253880
|
|
|
NM_000465.4(BARD1):c.2243A>G (p.Glu748Gly)
|
rs1553612068
|
|
|
NM_000465.4(BARD1):c.2244G>A (p.Glu748=)
|
|
|
|
NM_000465.4(BARD1):c.2244G>C (p.Glu748Asp)
|
|
|
|
NM_000465.4(BARD1):c.2246G>A (p.Arg749Lys)
|
rs1692200373
|
|
|
NM_000465.4(BARD1):c.2246G>C (p.Arg749Thr)
|
rs1692200373
|
|
|
NM_000465.4(BARD1):c.2247G>A (p.Arg749=)
|
rs1057520455
|
|
|
NM_000465.4(BARD1):c.2247G>T (p.Arg749Ser)
|
rs1057520455
|
|
|
NM_000465.4(BARD1):c.2248G>T (p.Val750Phe)
|
rs34677017
|
|
|
NM_000465.4(BARD1):c.2249T>A (p.Val750Asp)
|
rs1553612064
|
|
|
NM_000465.4(BARD1):c.2250T>G (p.Val750=)
|
rs1574702229
|
|
|
NM_000465.4(BARD1):c.2252G>C (p.Arg751Pro)
|
rs587782246
|
|
|
NM_000465.4(BARD1):c.2253G>A (p.Arg751=)
|
rs750001065
|
|
|
NM_000465.4(BARD1):c.2254C>G (p.Gln752Glu)
|
rs1692198935
|
|
|
NM_000465.4(BARD1):c.2255A>C (p.Gln752Pro)
|
rs755369095
|
|
|
NM_000465.4(BARD1):c.2256G>C (p.Gln752His)
|
rs1692198555
|
|
|
NM_000465.4(BARD1):c.2257G>A (p.Gly753Ser)
|
rs786203405
|
|
|
NM_000465.4(BARD1):c.2257G>T (p.Gly753Cys)
|
rs786203405
|
|
|
NM_000465.4(BARD1):c.2258G>T (p.Gly753Val)
|
rs867281641
|
|
|
NM_000465.4(BARD1):c.2259C>A (p.Gly753=)
|
rs753441393
|
|
|
NM_000465.4(BARD1):c.2259C>T (p.Gly753=)
|
rs753441393
|
|
|
NM_000465.4(BARD1):c.225A>G (p.Val75=)
|
rs786202766
|
|
|
NM_000465.4(BARD1):c.225_228del (p.Ser76fs)
|
rs1553624830
|
|
|
NM_000465.4(BARD1):c.2261A>C (p.Lys754Thr)
|
|
|
|
NM_000465.4(BARD1):c.2261_2262del (p.Lys754fs)
|
rs1574702099
|
|
|
NM_000465.4(BARD1):c.2262del (p.Val755fs)
|
|
|
|
NM_000465.4(BARD1):c.2263G>A (p.Val755Ile)
|
rs876659038
|
|
|
NM_000465.4(BARD1):c.2264T>C (p.Val755Ala)
|
rs1553612049
|
|
|
NM_000465.4(BARD1):c.2264T>G (p.Val755Gly)
|
|
|
|
NM_000465.4(BARD1):c.2265C>G (p.Val755=)
|
rs13389324
|
|
|
NM_000465.4(BARD1):c.2267G>A (p.Trp756Ter)
|
rs1358155595
|
|
|
NM_000465.4(BARD1):c.2268G>A (p.Trp756Ter)
|
rs786202118
|
|
|
NM_000465.4(BARD1):c.2268G>C (p.Trp756Cys)
|
rs786202118
|
|
|
NM_000465.4(BARD1):c.2268del (p.Val755_Trp756insTer)
|
rs1559371635
|
|
|
NM_000465.4(BARD1):c.226A>C (p.Ser76Arg)
|
|
|
|
NM_000465.4(BARD1):c.226del (p.Ser76fs)
|
rs1559437264
|
|
|
NM_000465.4(BARD1):c.2271G>A (p.Lys757=)
|
rs1064796724
|
|
|
NM_000465.4(BARD1):c.2271G>T (p.Lys757Asn)
|
rs1064796724
|
|
|
NM_000465.4(BARD1):c.2272G>A (p.Ala758Thr)
|
rs863224672
|
|
|
NM_000465.4(BARD1):c.2272G>C (p.Ala758Pro)
|
rs863224672
|
|
|
NM_000465.4(BARD1):c.2272G>T (p.Ala758Ser)
|
rs863224672
|
|
|
NM_000465.4(BARD1):c.2273C>A (p.Ala758Asp)
|
rs1574701935
|
|
|
NM_000465.4(BARD1):c.2273C>T (p.Ala758Val)
|
rs1574701935
|
|
|
NM_000465.4(BARD1):c.2275C>G (p.Pro759Ala)
|
rs1318628468
|
|
|
NM_000465.4(BARD1):c.2275C>T (p.Pro759Ser)
|
rs1318628468
|
|
|
NM_000465.4(BARD1):c.2275_2276delinsAT (p.Pro759Ile)
|
rs1692195261
|
|
|
NM_000465.4(BARD1):c.2276dup (p.Ser760fs)
|
|
|
|
NM_000465.4(BARD1):c.2278T>C (p.Ser760Pro)
|
rs1692194979
|
|
|
NM_000465.4(BARD1):c.2279C>A (p.Ser760Ter)
|
rs730881425
|
|
|
NM_000465.4(BARD1):c.2280G>C (p.Ser760=)
|
rs749959440
|
|
|
NM_000465.4(BARD1):c.2280G>T (p.Ser760=)
|
|
|
|
NM_000465.4(BARD1):c.2281A>G (p.Ser761Gly)
|
rs1475472364
|
|
|
NM_000465.4(BARD1):c.2283C>T (p.Ser761=)
|
|
|
|
NM_000465.4(BARD1):c.2284T>C (p.Trp762Arg)
|
rs878854008
|
|
|
NM_000465.4(BARD1):c.2286G>A (p.Trp762Ter)
|
|
|
|
NM_000465.4(BARD1):c.2286G>C (p.Trp762Cys)
|
|
|
|
NM_000465.4(BARD1):c.2290A>G (p.Ile764Val)
|
rs1553612026
|
|
|
NM_000465.4(BARD1):c.2291_2294del (p.Ile764fs)
|
|
|
|
NM_000465.4(BARD1):c.2292A>C (p.Ile764=)
|
|
|
|
NM_000465.4(BARD1):c.2293G>A (p.Asp765Asn)
|
rs1574701742
|
|
|
NM_000465.4(BARD1):c.2295C>G (p.Asp765Glu)
|
|
|
|
NM_000465.4(BARD1):c.2295C>T (p.Asp765=)
|
rs1692192527
|
|
|
NM_000465.4(BARD1):c.2296T>G (p.Cys766Gly)
|
|
|
|
NM_000465.4(BARD1):c.2297G>A (p.Cys766Tyr)
|
rs1692192234
|
|
|
NM_000465.4(BARD1):c.2299G>A (p.Val767Met)
|
rs1434753563
|
|
|
NM_000465.4(BARD1):c.2299G>T (p.Val767Leu)
|
rs1434753563
|
|
|
NM_000465.4(BARD1):c.229G>C (p.Asp77His)
|
rs1574839978
|
|
|
NM_000465.4(BARD1):c.22A>C (p.Arg8=)
|
|
|
|
NM_000465.4(BARD1):c.22_38delinsGTT (p.Arg8fs)
|
|
|
|
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)
|
rs750413473
|
|
|
NM_000465.4(BARD1):c.2300_2301dup (p.Met768Ter)
|
|
|
|
NM_000465.4(BARD1):c.2301G>A (p.Val767=)
|
rs2105986191
|
|
|
NM_000465.4(BARD1):c.2301G>C (p.Val767=)
|
|
|
|
NM_000465.4(BARD1):c.2303T>C (p.Met768Thr)
|
rs1553612018
|
|
|
NM_000465.4(BARD1):c.2304G>A (p.Met768Ile)
|
rs730881409
|
|
|
NM_000465.4(BARD1):c.2304G>C (p.Met768Ile)
|
rs730881409
|
|
|
NM_000465.4(BARD1):c.2306C>G (p.Ser769Cys)
|
rs730881427
|
|
|
NM_000465.4(BARD1):c.2306C>T (p.Ser769Phe)
|
|
|
|
NM_000465.4(BARD1):c.2307C>G (p.Ser769=)
|
|
|
|
NM_000465.4(BARD1):c.2307C>T (p.Ser769=)
|
rs1060504197
|
|
|
NM_000465.4(BARD1):c.2307del (p.Phe770fs)
|
rs1692191104
|
|
|
NM_000465.4(BARD1):c.2309T>G (p.Phe770Cys)
|
rs1692190854
|
|
|
NM_000465.4(BARD1):c.230_233del (p.Asp77fs)
|
|
|
|
NM_000465.4(BARD1):c.2310T>C (p.Phe770=)
|
|
|
|
NM_000465.4(BARD1):c.2311G>C (p.Glu771Gln)
|
|
|
|
NM_000465.4(BARD1):c.2313G>C (p.Glu771Asp)
|
|
|
|
NM_000465.4(BARD1):c.2316G>A (p.Leu772=)
|
rs1266259366
|
|
|
NM_000465.4(BARD1):c.2317C>G (p.Leu773Val)
|
rs1241139157
|
|
|
NM_000465.4(BARD1):c.2317C>T (p.Leu773Phe)
|
rs1241139157
|
|
|
NM_000465.4(BARD1):c.2318T>C (p.Leu773Pro)
|
rs1559371391
|
|
|
NM_000465.4(BARD1):c.2319T>C (p.Leu773=)
|
rs1692189937
|
|
|
NM_000465.4(BARD1):c.2321C>T (p.Pro774Leu)
|
rs1208217643
|
|
|
NM_000465.4(BARD1):c.2322T>A (p.Pro774=)
|
|
|
|
NM_000465.4(BARD1):c.2322T>C (p.Pro774=)
|
|
|
|
NM_000465.4(BARD1):c.2322T>G (p.Pro774=)
|
|
|
|
NM_000465.4(BARD1):c.2323C>T (p.Leu775Phe)
|
rs1553612005
|
|
|
NM_000465.4(BARD1):c.2325T>C (p.Leu775=)
|
|
|
|
NM_000465.4(BARD1):c.2326G>C (p.Asp776His)
|
rs2105986105
|
|
|
NM_000465.4(BARD1):c.2329A>C (p.Ser777Arg)
|
rs1553611997
|
|
|
NM_000465.4(BARD1):c.232T>C (p.Cys78Arg)
|
rs1695567620
|
|
|
NM_000465.4(BARD1):c.2330G>A (p.Ser777Asn)
|
|
|
|
NM_000465.4(BARD1):c.2330_*684del (p.Ser777fs)
|
rs1692152873
|
|
|
NM_000465.4(BARD1):c.2331C>G (p.Ser777Arg)
|
|
|
|
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.2333G>C (p.Ter778Ser)
|
rs776958611
|
|
|
NM_000465.4(BARD1):c.2334A>G (p.Ter778Trp)
|
rs1692188075
|
|
|
NM_000465.4(BARD1):c.233G>C (p.Cys78Ser)
|
rs199780731
|
|
|
NM_000465.4(BARD1):c.234C>A (p.Cys78Ter)
|
|
|
|
NM_000465.4(BARD1):c.234C>T (p.Cys78=)
|
|
|
|
NM_000465.4(BARD1):c.235A>G (p.Ile79Val)
|
rs1436521124
|
|
|
NM_000465.4(BARD1):c.236T>C (p.Ile79Thr)
|
rs1695566939
|
|
|
NM_000465.4(BARD1):c.237T>C (p.Ile79=)
|
rs1430049763
|
|
|
NM_000465.4(BARD1):c.238G>A (p.Gly80Arg)
|
|
|
|
NM_000465.4(BARD1):c.23G>A (p.Arg8Lys)
|
rs1696475444
|
|
|
NM_000465.4(BARD1):c.242C>G (p.Thr81Ser)
|
rs1553624824
|
|
|
NM_000465.4(BARD1):c.244G>C (p.Gly82Arg)
|
rs1559437226
|
|
|
NM_000465.4(BARD1):c.244G>T (p.Gly82Ter)
|
rs1559437226
|
|
|
NM_000465.4(BARD1):c.246A>G (p.Gly82=)
|
|
|
|
NM_000465.4(BARD1):c.246A>T (p.Gly82=)
|
rs1695565956
|
|
|
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg)
|
rs1559437198
|
|
|
NM_000465.4(BARD1):c.248_262del (p.Cys83_Thr88delinsSer)
|
rs1695564417
|
|
|
NM_000465.4(BARD1):c.249T>A (p.Cys83Ter)
|
|
|
|
NM_000465.4(BARD1):c.249T>C (p.Cys83=)
|
rs1574839902
|
|
|
NM_000465.4(BARD1):c.24G>T (p.Arg8Ser)
|
rs1696475305
|
|
|
NM_000465.4(BARD1):c.252A>C (p.Pro84=)
|
rs786202670
|
|
|
NM_000465.4(BARD1):c.252A>G (p.Pro84=)
|
rs786202670
|
|
|
NM_000465.4(BARD1):c.254T>C (p.Val85Ala)
|
rs1553624812
|
|
|
NM_000465.4(BARD1):c.255G>A (p.Val85=)
|
|
|
|
NM_000465.4(BARD1):c.257G>T (p.Cys86Phe)
|
rs1574839860
|
|
|
NM_000465.4(BARD1):c.262A>G (p.Thr88Ala)
|
|
|
|
NM_000465.4(BARD1):c.263C>T (p.Thr88Ile)
|
rs876659356
|
|
|
NM_000465.4(BARD1):c.264C>T (p.Thr88=)
|
rs1695564144
|
|
|
NM_000465.4(BARD1):c.266C>A (p.Pro89Gln)
|
|
|
|
NM_000465.4(BARD1):c.266C>G (p.Pro89Arg)
|
rs780241203
|
|
|
NM_000465.4(BARD1):c.266del (p.Pro89fs)
|
rs1553624802
|
|
|
NM_000465.4(BARD1):c.269C>T (p.Ala90Val)
|
rs1574839783
|
|
|
NM_000465.4(BARD1):c.26_40del (p.4_8NRQPR[1])
|
rs587781979
|
|
|
NM_000465.4(BARD1):c.26_40delinsTAATCGGT (p.Asn9fs)
|
|
|
|
NM_000465.4(BARD1):c.26_40dup (p.4_8NRQPR[3])
|
rs587781979
|
|
|
NM_000465.4(BARD1):c.270C>T (p.Ala90=)
|
|
|
|
NM_000465.4(BARD1):c.271T>C (p.Trp91Arg)
|
rs1695563086
|
|
|
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter)
|
rs1559437094
|
|
|
NM_000465.4(BARD1):c.273G>A (p.Trp91Ter)
|
rs2106135008
|
|
|
NM_000465.4(BARD1):c.273G>C (p.Trp91Cys)
|
|
|
|
NM_000465.4(BARD1):c.273del (p.Ala90_Trp91insTer)
|
rs1553624801
|
|
|
NM_000465.4(BARD1):c.274A>G (p.Ile92Val)
|
rs750878896
|
|
|
NM_000465.4(BARD1):c.275T>C (p.Ile92Thr)
|
|
|
|
NM_000465.4(BARD1):c.276A>G (p.Ile92Met)
|
rs1553624797
|
|
|
NM_000465.4(BARD1):c.277C>A (p.Gln93Lys)
|
rs876658571
|
|
|
NM_000465.4(BARD1):c.277C>G (p.Gln93Glu)
|
rs876658571
|
|
|
NM_000465.4(BARD1):c.277C>T (p.Gln93Ter)
|
rs876658571
|
|
|
NM_000465.4(BARD1):c.278A>C (p.Gln93Pro)
|
|
|
|
NM_000465.4(BARD1):c.27C>A (p.Asn9Lys)
|
rs1038616344
|
|
|
NM_000465.4(BARD1):c.27C>G (p.Asn9Lys)
|
rs1038616344
|
|
|
NM_000465.4(BARD1):c.282C>G (p.Asp94Glu)
|
rs1695561998
|
|
|
NM_000465.4(BARD1):c.282C>T (p.Asp94=)
|
rs1695561998
|
|
|
NM_000465.4(BARD1):c.282_291delinsT (p.Leu95_Ile97del)
|
rs1064795485
|
|
|
NM_000465.4(BARD1):c.282del (p.Asp94_Leu95insTer)
|
|
|
|
NM_000465.4(BARD1):c.283T>C (p.Leu95=)
|
rs1559437045
|
|
|
NM_000465.4(BARD1):c.283_291del (p.Leu95_Ile97del)
|
rs1695560646
|
|
|
NM_000465.4(BARD1):c.285G>A (p.Leu95=)
|
|
|
|
NM_000465.4(BARD1):c.286A>T (p.Lys96Ter)
|
|
|
|
NM_000465.4(BARD1):c.287A>G (p.Lys96Arg)
|
rs1695561580
|
|
|
NM_000465.4(BARD1):c.288G>A (p.Lys96=)
|
rs1553624778
|
|
|
NM_000465.4(BARD1):c.289A>G (p.Ile97Val)
|
rs1553624773
|
|
|
NM_000465.4(BARD1):c.289A>T (p.Ile97Leu)
|
rs1553624773
|
|
|
NM_000465.4(BARD1):c.28C>A (p.Arg10=)
|
rs1425810692
|
|
|
NM_000465.4(BARD1):c.290T>A (p.Ile97Lys)
|
rs878854009
|
|
|
NM_000465.4(BARD1):c.290T>G (p.Ile97Arg)
|
rs878854009
|
|
|
NM_000465.4(BARD1):c.292A>C (p.Asn98His)
|
rs1444375563
|
|
|
NM_000465.4(BARD1):c.292_295del (p.Asn98fs)
|
rs1553624758
|
|
|
NM_000465.4(BARD1):c.293A>C (p.Asn98Thr)
|
rs763707275
|
|
|
NM_000465.4(BARD1):c.293A>G (p.Asn98Ser)
|
rs763707275
|
|
|
NM_000465.4(BARD1):c.293del (p.Asn98fs)
|
|
|
|
NM_000465.4(BARD1):c.294T>A (p.Asn98Lys)
|
rs201798163
|
|
|
NM_000465.4(BARD1):c.294T>C (p.Asn98=)
|
rs201798163
|
|
|
NM_000465.4(BARD1):c.295del (p.Arg99fs)
|
|
|
|
NM_000465.4(BARD1):c.295dup (p.Arg99fs)
|
|
|
|
NM_000465.4(BARD1):c.296G>A (p.Arg99Lys)
|
rs876659369
|
|
|
NM_000465.4(BARD1):c.296G>C (p.Arg99Thr)
|
rs876659369
|
|
|
NM_000465.4(BARD1):c.297A>G (p.Arg99=)
|
rs878854010
|
|
|
NM_000465.4(BARD1):c.298C>T (p.Gln100Ter)
|
rs786201912
|
|
|
NM_000465.4(BARD1):c.2T>C (p.Met1Thr)
|
rs1553628504
|
|
|
NM_000465.4(BARD1):c.300_307dup (p.Ser103fs)
|
|
|
|
NM_000465.4(BARD1):c.301C>A (p.Leu101Met)
|
|
|
|
NM_000465.4(BARD1):c.301C>T (p.Leu101=)
|
rs1559436974
|
|
|
NM_000465.4(BARD1):c.302del (p.Leu101fs)
|
|
|
|
NM_000465.4(BARD1):c.303G>A (p.Leu101=)
|
|
|
|
NM_000465.4(BARD1):c.304G>C (p.Asp102His)
|
|
|
|
NM_000465.4(BARD1):c.305A>G (p.Asp102Gly)
|
rs1559436950
|
|
|
NM_000465.4(BARD1):c.305A>T (p.Asp102Val)
|
|
|
|
NM_000465.4(BARD1):c.306C>G (p.Asp102Glu)
|
rs1695558437
|
|
|
NM_000465.4(BARD1):c.307A>G (p.Ser103Gly)
|
rs1553624745
|
|
|
NM_000465.4(BARD1):c.309C>T (p.Ser103=)
|
|
|
|
NM_000465.4(BARD1):c.30_44del (p.Gln11_Arg15del)
|
rs587781297
|
|
|
NM_000465.4(BARD1):c.30_44dup (p.Gln11_Arg15dup)
|
rs587781297
|
|
|
NM_000465.4(BARD1):c.30dup (p.Gln11fs)
|
rs1553628482
|
|
|
NM_000465.4(BARD1):c.311T>C (p.Met104Thr)
|
rs876659204
|
|
|
NM_000465.4(BARD1):c.313A>C (p.Ile105Leu)
|
rs1574839522
|
|
|
NM_000465.4(BARD1):c.313A>G (p.Ile105Val)
|
|
|
|
NM_000465.4(BARD1):c.315T>A (p.Ile105=)
|
|
|
|
NM_000465.4(BARD1):c.316C>T (p.Gln106Ter)
|
rs2106134639
|
|
|
NM_000465.4(BARD1):c.318A>G (p.Gln106=)
|
rs1178885131
|
|
|
NM_000465.4(BARD1):c.319C>A (p.Leu107Ile)
|
rs2106134624
|
|
|
NM_000465.4(BARD1):c.319C>T (p.Leu107Phe)
|
|
|
|
NM_000465.4(BARD1):c.322T>C (p.Cys108Arg)
|
rs1060501298
|
|
|
NM_000465.4(BARD1):c.322T>G (p.Cys108Gly)
|
rs1060501298
|
|
|
NM_000465.4(BARD1):c.324T>C (p.Cys108=)
|
rs570480045
|
|
|
NM_000465.4(BARD1):c.325A>G (p.Ser109Gly)
|
rs764746353
|
|
|
NM_000465.4(BARD1):c.326G>A (p.Ser109Asn)
|
rs1695556373
|
|
|
NM_000465.4(BARD1):c.328A>G (p.Lys110Glu)
|
rs1574839460
|
|
|
NM_000465.4(BARD1):c.328A>T (p.Lys110Ter)
|
rs1574839460
|
|
|
NM_000465.4(BARD1):c.32A>C (p.Gln11Pro)
|
rs1696474319
|
|
|
NM_000465.4(BARD1):c.32A>T (p.Gln11Leu)
|
rs1696474319
|
|
|
NM_000465.4(BARD1):c.330G>A (p.Lys110=)
|
|
|
|
NM_000465.4(BARD1):c.331C>G (p.Leu111Val)
|
rs1574839448
|
|
|
NM_000465.4(BARD1):c.334C>G (p.Arg112Gly)
|
|
|
|
NM_000465.4(BARD1):c.335G>C (p.Arg112Pro)
|
rs587781591
|
|
|
NM_000465.4(BARD1):c.336A>C (p.Arg112=)
|
rs776586419
|
|
|
NM_000465.4(BARD1):c.336A>G (p.Arg112=)
|
rs776586419
|
|
|
NM_000465.4(BARD1):c.337A>G (p.Asn113Asp)
|
rs1695555115
|
|
|
NM_000465.4(BARD1):c.339T>A (p.Asn113Lys)
|
rs2106134527
|
|
|
NM_000465.4(BARD1):c.339T>C (p.Asn113=)
|
|
|
|
NM_000465.4(BARD1):c.341T>A (p.Leu114Ter)
|
|
|
|
NM_000465.4(BARD1):c.341T>G (p.Leu114Trp)
|
|
|
|
NM_000465.4(BARD1):c.342G>T (p.Leu114Phe)
|
rs2106134524
|
|
|
NM_000465.4(BARD1):c.344T>C (p.Leu115Pro)
|
rs1440316765
|
|
|
NM_000465.4(BARD1):c.345A>G (p.Leu115=)
|
rs771012953
|
|
|
NM_000465.4(BARD1):c.345A>T (p.Leu115=)
|
rs771012953
|
|
|
NM_000465.4(BARD1):c.349G>A (p.Asp117Asn)
|
|
|
|
NM_000465.4(BARD1):c.34C>G (p.Pro12Ala)
|
rs1182316664
|
|
|
NM_000465.4(BARD1):c.34C>T (p.Pro12Ser)
|
|
|
|
NM_000465.4(BARD1):c.351C>T (p.Asp117=)
|
|
|
|
NM_000465.4(BARD1):c.352A>C (p.Asn118His)
|
|
|
|
NM_000465.4(BARD1):c.354T>C (p.Asn118=)
|
|
|
|
NM_000465.4(BARD1):c.355G>A (p.Glu119Lys)
|
rs1559436782
|
|
|
NM_000465.4(BARD1):c.357G>A (p.Glu119=)
|
rs1553624706
|
|
|
NM_000465.4(BARD1):c.358C>G (p.Leu120Val)
|
|
|
|
NM_000465.4(BARD1):c.359T>C (p.Leu120Pro)
|
rs1574839295
|
|
|
NM_000465.4(BARD1):c.35C>G (p.Pro12Arg)
|
rs786203647
|
|
|
NM_000465.4(BARD1):c.35C>T (p.Pro12Leu)
|
rs786203647
|
|
|
NM_000465.4(BARD1):c.35del (p.Pro12fs)
|
|
|
|
NM_000465.4(BARD1):c.360G>A (p.Leu120=)
|
rs2106134433
|
|
|
NM_000465.4(BARD1):c.360G>C (p.Leu120=)
|
|
|
|
NM_000465.4(BARD1):c.362C>G (p.Ser121Ter)
|
|
|
|
NM_000465.4(BARD1):c.363A>G (p.Ser121=)
|
rs1553624704
|
|
|
NM_000465.4(BARD1):c.363A>T (p.Ser121=)
|
rs1553624704
|
|
|
NM_000465.4(BARD1):c.363_364+1del
|
rs2106134415
|
|
|
NM_000465.4(BARD1):c.364+10A>G
|
|
|
|
NM_000465.4(BARD1):c.364+11T>A
|
|
|
|
NM_000465.4(BARD1):c.364+11T>C
|
rs1695552018
|
|
|
NM_000465.4(BARD1):c.364+11dup
|
|
|
|
NM_000465.4(BARD1):c.364+12C>T
|
rs1559436750
|
|
|
NM_000465.4(BARD1):c.364+13_364+18del
|
rs1553624692
|
|
|
NM_000465.4(BARD1):c.364+16A>G
|
rs201219625
|
|
|
NM_000465.4(BARD1):c.364+17T>A
|
rs375358131
|
|
|
NM_000465.4(BARD1):c.364+18C>T
|
rs1057523017
|
|
|
NM_000465.4(BARD1):c.364+1G>A
|
rs2106134408
|
|
|
NM_000465.4(BARD1):c.364+1G>T
|
rs2106134408
|
|
|
NM_000465.4(BARD1):c.364+20C>G
|
|
|
|
NM_000465.4(BARD1):c.364+2T>G
|
|
|
|
NM_000465.4(BARD1):c.364+2dup
|
rs2106134405
|
|
|
NM_000465.4(BARD1):c.364+5G>A
|
|
|
|
NM_000465.4(BARD1):c.364+7A>G
|
rs1475396127
|
|
|
NM_000465.4(BARD1):c.364+8C>A
|
rs769878334
|
|
|
NM_000465.4(BARD1):c.364+8C>T
|
rs769878334
|
|
|
NM_000465.4(BARD1):c.364+9T>C
|
rs1057523433
|
|
|
NM_000465.4(BARD1):c.364G>A (p.Asp122Asn)
|
rs1553624702
|
|
|
NM_000465.4(BARD1):c.365-100A>G
|
|
|
|
NM_000465.4(BARD1):c.365-111A>C
|
|
|
|
NM_000465.4(BARD1):c.365-111A>G
|
|
|
|
NM_000465.4(BARD1):c.365-13T>C
|
|
|
|
NM_000465.4(BARD1):c.365-14_365-13dup
|
rs776103948
|
|
|
NM_000465.4(BARD1):c.365-14dup
|
rs776103948
|
|
|
NM_000465.4(BARD1):c.365-16T>C
|
|
|
|
NM_000465.4(BARD1):c.365-16T>G
|
rs1310369784
|
|
|
NM_000465.4(BARD1):c.365-16del
|
|
|
|
NM_000465.4(BARD1):c.365-17T>C
|
rs2106112865
|
|
|
NM_000465.4(BARD1):c.365-1G>T
|
rs1559426428
|
|
|
NM_000465.4(BARD1):c.365-21_365-18del
|
|
|
|
NM_000465.4(BARD1):c.365-24_371del
|
rs2106112761
|
|
|
NM_000465.4(BARD1):c.365-2A>T
|
|
|
|
NM_000465.4(BARD1):c.365-2dup
|
rs1695036151
|
|
|
NM_000465.4(BARD1):c.365-3315_793del
|
|
|
|
NM_000465.4(BARD1):c.365-4T>C
|
rs1553622735
|
|
|
NM_000465.4(BARD1):c.365-5G>A
|
|
|
|
NM_000465.4(BARD1):c.365-5G>T
|
|
|
|
NM_000465.4(BARD1):c.365-6T>G
|
|
|
|
NM_000465.4(BARD1):c.365-7C>G
|
rs745929983
|
|
|
NM_000465.4(BARD1):c.365-8del
|
rs776103948
|
|
|
NM_000465.4(BARD1):c.365-9T>C
|
rs1695037195
|
|
|
NM_000465.4(BARD1):c.365A>T (p.Asp122Val)
|
rs1553622732
|
|
|
NM_000465.4(BARD1):c.367T>A (p.Leu123Met)
|
rs1553622731
|
|
|
NM_000465.4(BARD1):c.368T>G (p.Leu123Trp)
|
rs879253930
|
|
|
NM_000465.4(BARD1):c.369G>A (p.Leu123=)
|
rs1060504195
|
|
|
NM_000465.4(BARD1):c.369_378del (p.Lys124fs)
|
|
|
|
NM_000465.4(BARD1):c.36G>T (p.Pro12=)
|
|
|
|
NM_000465.4(BARD1):c.370A>G (p.Lys124Glu)
|
rs1559426408
|
|
|
NM_000465.4(BARD1):c.371A>G (p.Lys124Arg)
|
rs1574821845
|
|
|
NM_000465.4(BARD1):c.372A>G (p.Lys124=)
|
rs1553622726
|
|
|
NM_000465.4(BARD1):c.373G>A (p.Glu125Lys)
|
rs1553622720
|
|
|
NM_000465.4(BARD1):c.376G>A (p.Asp126Asn)
|
rs1695034849
|
|
|
NM_000465.4(BARD1):c.376G>T (p.Asp126Tyr)
|
rs1695034849
|
|
|
NM_000465.4(BARD1):c.377A>C (p.Asp126Ala)
|
rs1574821822
|
|
|
NM_000465.4(BARD1):c.377A>G (p.Asp126Gly)
|
rs1574821822
|
|
|
NM_000465.4(BARD1):c.378T>C (p.Asp126=)
|
rs1435093585
|
|
|
NM_000465.4(BARD1):c.379A>G (p.Lys127Glu)
|
rs1574821802
|
|
|
NM_000465.4(BARD1):c.37A>C (p.Arg13=)
|
|
|
|
NM_000465.4(BARD1):c.384T>C (p.Pro128=)
|
rs2106112667
|
|
|
NM_000465.4(BARD1):c.385A>G (p.Arg129Gly)
|
rs1553622711
|
|
|
NM_000465.4(BARD1):c.389A>C (p.Lys130Thr)
|
rs1174079177
|
|
|
NM_000465.4(BARD1):c.389A>G (p.Lys130Arg)
|
rs1174079177
|
|
|
NM_000465.4(BARD1):c.38G>C (p.Arg13Thr)
|
rs587781713
|
|
|
NM_000465.4(BARD1):c.390A>C (p.Lys130Asn)
|
rs554652893
|
|
|
NM_000465.4(BARD1):c.390A>G (p.Lys130=)
|
rs554652893
|
|
|
NM_000465.4(BARD1):c.391A>T (p.Ser131Cys)
|
rs1387450000
|
|
|
NM_000465.4(BARD1):c.393T>C (p.Ser131=)
|
rs771412308
|
|
|
NM_000465.4(BARD1):c.394T>G (p.Leu132Val)
|
|
|
|
NM_000465.4(BARD1):c.396G>A (p.Leu132=)
|
rs1553622703
|
|
|
NM_000465.4(BARD1):c.39G>C (p.Arg13Ser)
|
|
|
|
NM_000465.4(BARD1):c.39_40del (p.Arg13fs)
|
|
|
|
NM_000465.4(BARD1):c.3G>A (p.Met1Ile)
|
rs587780031
|
|
|
NM_000465.4(BARD1):c.400A>C (p.Asn134His)
|
rs876660852
|
|
|
NM_000465.4(BARD1):c.401A>C (p.Asn134Thr)
|
rs1559426297
|
|
|
NM_000465.4(BARD1):c.401A>G (p.Asn134Ser)
|
rs1559426297
|
|
|
NM_000465.4(BARD1):c.403G>A (p.Asp135Asn)
|
rs747455698
|
|
|
NM_000465.4(BARD1):c.403_404delinsTT (p.Asp135Phe)
|
|
|
|
NM_000465.4(BARD1):c.404A>G (p.Asp135Gly)
|
rs778256124
|
|
|
NM_000465.4(BARD1):c.405T>C (p.Asp135=)
|
rs1574821622
|
|
|
NM_000465.4(BARD1):c.406G>T (p.Ala136Ser)
|
rs1261925788
|
|
|
NM_000465.4(BARD1):c.408A>G (p.Ala136=)
|
rs878854012
|
|
|
NM_000465.4(BARD1):c.413_419del (p.Asn138fs)
|
rs1574821575
|
|
|
NM_000465.4(BARD1):c.415_416del (p.Lys139fs)
|
rs1420243208
|
|
|
NM_000465.4(BARD1):c.417GAA[1] (p.Lys140del)
|
rs1060501278
|
|
|
NM_000465.4(BARD1):c.420G>A (p.Lys140=)
|
rs758749603
|
|
|
NM_000465.4(BARD1):c.420_421delinsTT (p.Lys140_Asn141delinsAsnTyr)
|
|
|
|
NM_000465.4(BARD1):c.421A>C (p.Asn141His)
|
|
|
|
NM_000465.4(BARD1):c.422A>G (p.Asn141Ser)
|
|
|
|
NM_000465.4(BARD1):c.423T>C (p.Asn141=)
|
rs2106112492
|
|
|
NM_000465.4(BARD1):c.425C>T (p.Ser142Leu)
|
rs1553622692
|
|
|
NM_000465.4(BARD1):c.426A>C (p.Ser142=)
|
|
|
|
NM_000465.4(BARD1):c.426A>G (p.Ser142=)
|
|
|
|
NM_000465.4(BARD1):c.427A>T (p.Ile143Phe)
|
rs1060501289
|
|
|
NM_000465.4(BARD1):c.428T>C (p.Ile143Thr)
|
|
|
|
NM_000465.4(BARD1):c.429T>A (p.Ile143=)
|
rs1695029571
|
|
|
NM_000465.4(BARD1):c.429T>G (p.Ile143Met)
|
rs1695029571
|
|
|
NM_000465.4(BARD1):c.42C>G (p.Ile14Met)
|
rs746266678
|
|
|
NM_000465.4(BARD1):c.42C>T (p.Ile14=)
|
rs746266678
|
|
|
NM_000465.4(BARD1):c.432A>T (p.Lys144Asn)
|
rs1695029464
|
|
|
NM_000465.4(BARD1):c.433A>G (p.Met145Val)
|
rs1553622685
|
|
|
NM_000465.4(BARD1):c.433_435delinsTA (p.Met145fs)
|
|
|
|
NM_000465.4(BARD1):c.434dup (p.Met145fs)
|
|
|
|
NM_000465.4(BARD1):c.435G>A (p.Met145Ile)
|
rs1574821505
|
|
|
NM_000465.4(BARD1):c.437G>A (p.Trp146Ter)
|
|
|
|
NM_000465.4(BARD1):c.437G>T (p.Trp146Leu)
|
rs1695029110
|
|
|
NM_000465.4(BARD1):c.438G>A (p.Trp146Ter)
|
rs587781806
|
|
|
NM_000465.4(BARD1):c.438_439del (p.Trp146fs)
|
|
|
|
NM_000465.4(BARD1):c.438del (p.Trp146fs)
|
|
|
|
NM_000465.4(BARD1):c.439T>C (p.Phe147Leu)
|
rs876658313
|
|
|
NM_000465.4(BARD1):c.439T>G (p.Phe147Val)
|
|
|
|
NM_000465.4(BARD1):c.43C>A (p.Arg15Ser)
|
rs1553628470
|
|
|
NM_000465.4(BARD1):c.43C>T (p.Arg15Cys)
|
rs1553628470
|
|
|
NM_000465.4(BARD1):c.441dup (p.Ser148Ter)
|
rs1553622681
|
|
|
NM_000465.4(BARD1):c.442A>G (p.Ser148Gly)
|
|
|
|
NM_000465.4(BARD1):c.445C>T (p.Pro149Ser)
|
|
|
|
NM_000465.4(BARD1):c.447T>A (p.Pro149=)
|
|
|
|
NM_000465.4(BARD1):c.448C>G (p.Arg150Gly)
|
rs730881411
|
|
|
NM_000465.4(BARD1):c.449G>C (p.Arg150Pro)
|
rs730881412
|
|
|
NM_000465.4(BARD1):c.449G>T (p.Arg150Leu)
|
rs730881412
|
|
|
NM_000465.4(BARD1):c.44G>C (p.Arg15Pro)
|
rs545107676
|
|
|
NM_000465.4(BARD1):c.450A>C (p.Arg150=)
|
rs2106112364
|
|
|
NM_000465.4(BARD1):c.450A>G (p.Arg150=)
|
|
|
|
NM_000465.4(BARD1):c.453T>A (p.Ser151Arg)
|
|
|
|
NM_000465.4(BARD1):c.455A>C (p.Lys152Thr)
|
rs1064794194
|
|
|
NM_000465.4(BARD1):c.456G>A (p.Lys152=)
|
rs2106112336
|
|
|
NM_000465.4(BARD1):c.457_460dup (p.Val154fs)
|
rs772486760
|
|
|
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.461_464del (p.Val154fs)
|
|
|
|
NM_000465.4(BARD1):c.462C>A (p.Val154=)
|
rs2106112308
|
|
|
NM_000465.4(BARD1):c.462C>G (p.Val154=)
|
rs2106112308
|
|
|
NM_000465.4(BARD1):c.462C>T (p.Val154=)
|
rs2106112308
|
|
|
NM_000465.4(BARD1):c.462_470del (p.Arg155_Val157del)
|
rs1695026394
|
|
|
NM_000465.4(BARD1):c.463A>C (p.Arg155=)
|
|
|
|
NM_000465.4(BARD1):c.463A>T (p.Arg155Ter)
|
rs1553622669
|
|
|
NM_000465.4(BARD1):c.464G>A (p.Arg155Lys)
|
rs1574821370
|
|
|
NM_000465.4(BARD1):c.466T>A (p.Tyr156Asn)
|
rs1172089451
|
|
|
NM_000465.4(BARD1):c.466T>C (p.Tyr156His)
|
rs1172089451
|
|
|
NM_000465.4(BARD1):c.467A>G (p.Tyr156Cys)
|
|
|
|
NM_000465.4(BARD1):c.468T>G (p.Tyr156Ter)
|
|
|
|
NM_000465.4(BARD1):c.469G>A (p.Val157Ile)
|
rs1553622662
|
|
|
NM_000465.4(BARD1):c.46_68dup (p.Ala25fs)
|
rs1553628445
|
|
|
NM_000465.4(BARD1):c.471T>A (p.Val157=)
|
|
|
|
NM_000465.4(BARD1):c.474G>A (p.Val158=)
|
rs1553622657
|
|
|
NM_000465.4(BARD1):c.475A>C (p.Ser159Arg)
|
rs2106112241
|
|
|
NM_000465.4(BARD1):c.476G>T (p.Ser159Ile)
|
rs786203226
|
|
|
NM_000465.4(BARD1):c.477T>C (p.Ser159=)
|
|
|
|
NM_000465.4(BARD1):c.478A>G (p.Lys160Glu)
|
rs1695025844
|
|
|
NM_000465.4(BARD1):c.47C>G (p.Ser16Cys)
|
rs1326565823
|
|
|
NM_000465.4(BARD1):c.480A>G (p.Lys160=)
|
rs2106112223
|
|
|
NM_000465.4(BARD1):c.483_490del (p.Ser162fs)
|
|
|
|
NM_000465.4(BARD1):c.485C>T (p.Ser162Leu)
|
rs755693106
|
|
|
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.490C>T (p.Gln164Ter)
|
rs750350372
|
|
|
NM_000465.4(BARD1):c.491A>C (p.Gln164Pro)
|
rs980413835
|
|
|
NM_000465.4(BARD1):c.492A>G (p.Gln164=)
|
rs1241515847
|
|
|
NM_000465.4(BARD1):c.493A>T (p.Thr165Ser)
|
rs876658147
|
|
|
NM_000465.4(BARD1):c.493del (p.Thr165fs)
|
|
|
|
NM_000465.4(BARD1):c.495C>G (p.Thr165=)
|
|
|
|
NM_000465.4(BARD1):c.495C>T (p.Thr165=)
|
|
|
|
NM_000465.4(BARD1):c.496C>T (p.Gln166Ter)
|
rs786202500
|
|
|
NM_000465.4(BARD1):c.498G>A (p.Gln166=)
|
rs1574821230
|
|
|
NM_000465.4(BARD1):c.49G>C (p.Gly17Arg)
|
rs746495820
|
|
|
NM_000465.4(BARD1):c.49G>T (p.Gly17Trp)
|
|
|
|
NM_000465.4(BARD1):c.4C>G (p.Pro2Ala)
|
rs1574870196
|
|
|
NM_000465.4(BARD1):c.4C>T (p.Pro2Ser)
|
rs1574870196
|
|
|
NM_000465.4(BARD1):c.501T>A (p.Pro167=)
|
rs1574821214
|
|
|
NM_000465.4(BARD1):c.503C>A (p.Ala168Glu)
|
rs982408430
|
|
|
NM_000465.4(BARD1):c.504A>G (p.Ala168=)
|
rs1695023375
|
|
|
NM_000465.4(BARD1):c.505A>G (p.Ile169Val)
|
rs765494437
|
|
|
NM_000465.4(BARD1):c.506T>A (p.Ile169Lys)
|
rs1553622645
|
|
|
NM_000465.4(BARD1):c.506T>G (p.Ile169Arg)
|
rs1553622645
|
|
|
NM_000465.4(BARD1):c.507A>T (p.Ile169=)
|
rs2106112077
|
|
|
NM_000465.4(BARD1):c.508A>G (p.Lys170Glu)
|
rs2106112066
|
|
|
NM_000465.4(BARD1):c.50G>T (p.Gly17Val)
|
rs1574869785
|
|
|
NM_000465.4(BARD1):c.50_62del (p.Gly17fs)
|
|
|
|
NM_000465.4(BARD1):c.511A>G (p.Lys171Glu)
|
rs1559426015
|
|
|
NM_000465.4(BARD1):c.512_513del (p.Lys171fs)
|
|
|
|
NM_000465.4(BARD1):c.513A>G (p.Lys171=)
|
|
|
|
NM_000465.4(BARD1):c.513del (p.Asp172fs)
|
|
|
|
NM_000465.4(BARD1):c.513dup (p.Asp172fs)
|
rs746325928
|
|
|
NM_000465.4(BARD1):c.515A>T (p.Asp172Val)
|
rs1695022402
|
|
|
NM_000465.4(BARD1):c.517G>A (p.Ala173Thr)
|
rs1553622642
|
|
|
NM_000465.4(BARD1):c.517dup (p.Ala173fs)
|
rs1574821129
|
|
|
NM_000465.4(BARD1):c.518C>G (p.Ala173Gly)
|
rs1316339721
|
|
|
NM_000465.4(BARD1):c.518C>T (p.Ala173Val)
|
rs1316339721
|
|
|
NM_000465.4(BARD1):c.519A>T (p.Ala173=)
|
|
|
|
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.520A>G (p.Ser174Gly)
|
|
|
|
NM_000465.4(BARD1):c.521G>A (p.Ser174Asn)
|
rs1277839212
|
|
|
NM_000465.4(BARD1):c.522T>C (p.Ser174=)
|
rs1060504190
|
|
|
NM_000465.4(BARD1):c.522T>G (p.Ser174Arg)
|
rs1060504190
|
|
|
NM_000465.4(BARD1):c.523G>A (p.Ala175Thr)
|
|
|
|
NM_000465.4(BARD1):c.525T>A (p.Ala175=)
|
rs1553622638
|
|
|
NM_000465.4(BARD1):c.526C>T (p.Gln176Ter)
|
rs776851287
|
|
|
NM_000465.4(BARD1):c.527A>C (p.Gln176Pro)
|
rs1559425948
|
|
|
NM_000465.4(BARD1):c.528G>C (p.Gln176His)
|
|
|
|
NM_000465.4(BARD1):c.529C>T (p.Gln177Ter)
|
|
|
|
NM_000465.4(BARD1):c.530A>C (p.Gln177Pro)
|
|
|
|
NM_000465.4(BARD1):c.533A>G (p.Asp178Gly)
|
|
|
|
NM_000465.4(BARD1):c.536C>G (p.Ser179Ter)
|
|
|
|
NM_000465.4(BARD1):c.536C>T (p.Ser179Leu)
|
rs2106111914
|
|
|
NM_000465.4(BARD1):c.537A>C (p.Ser179=)
|
|
|
|
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.538T>C (p.Tyr180His)
|
rs1060501311
|
|
|
NM_000465.4(BARD1):c.539A>G (p.Tyr180Cys)
|
rs1553622631
|
|
|
NM_000465.4(BARD1):c.539_540del (p.Ser179_Tyr180insTer)
|
rs779427628
|
|
|
NM_000465.4(BARD1):c.53A>G (p.Asn18Ser)
|
rs1064793727
|
|
|
NM_000465.4(BARD1):c.53A>T (p.Asn18Ile)
|
rs1064793727
|
|
|
NM_000465.4(BARD1):c.540T>C (p.Tyr180=)
|
|
|
|
NM_000465.4(BARD1):c.541G>A (p.Glu181Lys)
|
rs1695019560
|
|
|
NM_000465.4(BARD1):c.541G>T (p.Glu181Ter)
|
|
|
|
NM_000465.4(BARD1):c.543A>G (p.Glu181=)
|
rs1574820966
|
|
|
NM_000465.4(BARD1):c.543del (p.Glu181fs)
|
|
|
|
NM_000465.4(BARD1):c.547G>A (p.Val183Ile)
|
rs1695018814
|
|
|
NM_000465.4(BARD1):c.547G>T (p.Val183Phe)
|
rs1695018814
|
|
|
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.550T>G (p.Ser184Ala)
|
|
|
|
NM_000465.4(BARD1):c.550del (p.Ser184fs)
|
|
|
|
NM_000465.4(BARD1):c.551C>G (p.Ser184Cys)
|
rs184660818
|
|
|
NM_000465.4(BARD1):c.551C>T (p.Ser184Phe)
|
rs184660818
|
|
|
NM_000465.4(BARD1):c.552C>G (p.Ser184=)
|
|
|
|
NM_000465.4(BARD1):c.552C>T (p.Ser184=)
|
rs1060504193
|
|
|
NM_000465.4(BARD1):c.554C>A (p.Pro185Gln)
|
|
|
|
NM_000465.4(BARD1):c.555A>G (p.Pro185=)
|
rs1464416891
|
|
|
NM_000465.4(BARD1):c.557G>A (p.Ser186Asn)
|
rs1553622620
|
|
|
NM_000465.4(BARD1):c.557G>T (p.Ser186Ile)
|
rs1553622620
|
|
|
NM_000465.4(BARD1):c.559C>T (p.Pro187Ser)
|
rs1574820873
|
|
|
NM_000465.4(BARD1):c.559CCT[1] (p.Pro188del)
|
rs1553622614
|
|
|
NM_000465.4(BARD1):c.55G>A (p.Glu19Lys)
|
rs752514155
|
|
|
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)
|
rs752514155
|
|
|
NM_000465.4(BARD1):c.562C>A (p.Pro188Thr)
|
rs373249008
|
|
|
NM_000465.4(BARD1):c.562C>T (p.Pro188Ser)
|
rs373249008
|
|
|
NM_000465.4(BARD1):c.564T>A (p.Pro188=)
|
|
|
|
NM_000465.4(BARD1):c.564T>C (p.Pro188=)
|
rs748511245
|
|
|
NM_000465.4(BARD1):c.565G>A (p.Ala189Thr)
|
rs786202110
|
|
|
NM_000465.4(BARD1):c.566C>A (p.Ala189Glu)
|
|
|
|
NM_000465.4(BARD1):c.566C>T (p.Ala189Val)
|
rs864622686
|
|
|
NM_000465.4(BARD1):c.567A>G (p.Ala189=)
|
rs878854015
|
|
|
NM_000465.4(BARD1):c.568G>C (p.Asp190His)
|
rs369561166
|
|
|
NM_000465.4(BARD1):c.568G>T (p.Asp190Tyr)
|
rs369561166
|
|
|
NM_000465.4(BARD1):c.569A>G (p.Asp190Gly)
|
rs1559425762
|
|
|
NM_000465.4(BARD1):c.569A>T (p.Asp190Val)
|
rs1559425762
|
|
|
NM_000465.4(BARD1):c.572T>C (p.Val191Ala)
|
rs1433869128
|
|
|
NM_000465.4(BARD1):c.575C>A (p.Ser192Tyr)
|
rs587782482
|
|
|
NM_000465.4(BARD1):c.575C>G (p.Ser192Cys)
|
rs587782482
|
|
|
NM_000465.4(BARD1):c.575C>T (p.Ser192Phe)
|
|
|
|
NM_000465.4(BARD1):c.577G>A (p.Glu193Lys)
|
rs1695015277
|
|
|
NM_000465.4(BARD1):c.57G>C (p.Glu19Asp)
|
rs730881406
|
|
|
NM_000465.4(BARD1):c.57G>T (p.Glu19Asp)
|
rs730881406
|
|
|
NM_000465.4(BARD1):c.580_581del (p.Arg194fs)
|
|
|
|
NM_000465.4(BARD1):c.583G>C (p.Ala195Pro)
|
|
|
|
NM_000465.4(BARD1):c.583dup (p.Ala195fs)
|
|
|
|
NM_000465.4(BARD1):c.587A>G (p.Lys196Arg)
|
rs587781520
|
|
|
NM_000465.4(BARD1):c.587A>T (p.Lys196Ile)
|
|
|
|
NM_000465.4(BARD1):c.588A>C (p.Lys196Asn)
|
rs2106111611
|
|
|
NM_000465.4(BARD1):c.589A>T (p.Lys197Ter)
|
|
|
|
NM_000465.4(BARD1):c.58C>G (p.Pro20Ala)
|
rs1326795982
|
|
|
NM_000465.4(BARD1):c.58C>T (p.Pro20Ser)
|
rs1326795982
|
|
|
NM_000465.4(BARD1):c.590del (p.Lys197fs)
|
|
|
|
NM_000465.4(BARD1):c.591G>A (p.Lys197=)
|
rs1695014095
|
|
|
NM_000465.4(BARD1):c.592G>A (p.Ala198Thr)
|
rs748834249
|
|
|
NM_000465.4(BARD1):c.592G>C (p.Ala198Pro)
|
rs748834249
|
|
|
NM_000465.4(BARD1):c.594T>C (p.Ala198=)
|
|
|
|
NM_000465.4(BARD1):c.594T>G (p.Ala198=)
|
rs373763567
|
|
|
NM_000465.4(BARD1):c.595T>C (p.Ser199Pro)
|
rs1553622597
|
|
|
NM_000465.4(BARD1):c.596C>T (p.Ser199Phe)
|
rs1695013323
|
|
|
NM_000465.4(BARD1):c.596_597dup (p.Ala200fs)
|
rs1574820590
|
|
|
NM_000465.4(BARD1):c.598G>A (p.Ala200Thr)
|
rs1695013070
|
|
|
NM_000465.4(BARD1):c.598G>C (p.Ala200Pro)
|
|
|
|
NM_000465.4(BARD1):c.59C>G (p.Pro20Arg)
|
rs753686197
|
|
|
NM_000465.4(BARD1):c.59C>T (p.Pro20Leu)
|
rs753686197
|
|
|
NM_000465.4(BARD1):c.5C>T (p.Pro2Leu)
|
rs1574870182
|
|
|
NM_000465.4(BARD1):c.600A>G (p.Ala200=)
|
rs864622418
|
|
|
NM_000465.4(BARD1):c.601A>G (p.Arg201Gly)
|
rs786203051
|
|
|
NM_000465.4(BARD1):c.601A>T (p.Arg201Ter)
|
|
|
|
NM_000465.4(BARD1):c.601del (p.Arg201fs)
|
|
|
|
NM_000465.4(BARD1):c.602G>T (p.Arg201Ile)
|
rs1695012208
|
|
|
NM_000465.4(BARD1):c.605C>A (p.Ser202Tyr)
|
|
|
|
NM_000465.4(BARD1):c.605C>T (p.Ser202Phe)
|
rs1018602332
|
|
|
NM_000465.4(BARD1):c.606T>C (p.Ser202=)
|
rs762810549
|
|
|
NM_000465.4(BARD1):c.606del (p.Gly203fs)
|
|
|
|
NM_000465.4(BARD1):c.607G>A (p.Gly203Arg)
|
rs730881415
|
|
|
NM_000465.4(BARD1):c.607G>T (p.Gly203Ter)
|
rs730881415
|
|
|
NM_000465.4(BARD1):c.608G>C (p.Gly203Ala)
|
rs1323808192
|
|
|
NM_000465.4(BARD1):c.609A>G (p.Gly203=)
|
rs28997574
|
|
|
NM_000465.4(BARD1):c.60T>G (p.Pro20=)
|
|
|
|
NM_000465.4(BARD1):c.611A>G (p.Lys204Arg)
|
|
|
|
NM_000465.4(BARD1):c.613A>C (p.Lys205Gln)
|
rs1329441113
|
|
|
NM_000465.4(BARD1):c.614A>T (p.Lys205Met)
|
rs587782437
|
|
|
NM_000465.4(BARD1):c.614del (p.Lys205fs)
|
rs1559425604
|
|
|
NM_000465.4(BARD1):c.614dup (p.Gln206fs)
|
rs1559425604
|
|
|
NM_000465.4(BARD1):c.615G>A (p.Lys205=)
|
rs766609646
|
|
|
NM_000465.4(BARD1):c.616C>A (p.Gln206Lys)
|
rs1453894904
|
|
|
NM_000465.4(BARD1):c.616C>T (p.Gln206Ter)
|
rs1453894904
|
|
|
NM_000465.4(BARD1):c.616dup (p.Gln206fs)
|
rs2106111411
|
|
|
NM_000465.4(BARD1):c.617A>C (p.Gln206Pro)
|
rs760718143
|
|
|
NM_000465.4(BARD1):c.617A>G (p.Gln206Arg)
|
rs760718143
|
|
|
NM_000465.4(BARD1):c.618A>G (p.Gln206=)
|
rs1559425566
|
|
|
NM_000465.4(BARD1):c.619A>C (p.Lys207Gln)
|
rs1156792714
|
|
|
NM_000465.4(BARD1):c.61C>A (p.Arg21Ser)
|
rs864622206
|
|
|
NM_000465.4(BARD1):c.61C>T (p.Arg21Cys)
|
rs864622206
|
|
|
NM_000465.4(BARD1):c.621A>G (p.Lys207=)
|
|
|
|
NM_000465.4(BARD1):c.622A>G (p.Lys208Glu)
|
rs1559425550
|
|
|
NM_000465.4(BARD1):c.623A>G (p.Lys208Arg)
|
|
|
|
NM_000465.4(BARD1):c.623_624insT (p.Lys208fs)
|
rs1695009134
|
|
|
NM_000465.4(BARD1):c.623del (p.Lys208fs)
|
|
|
|
NM_000465.4(BARD1):c.623dup (p.Lys209fs)
|
rs587780033
|
|
|
NM_000465.4(BARD1):c.624G>T (p.Lys208Asn)
|
rs1559425523
|
|
|
NM_000465.4(BARD1):c.624dup (p.Lys209fs)
|
rs1553622558
|
|
|
NM_000465.4(BARD1):c.625A>C (p.Lys209Gln)
|
rs1559425519
|
|
|
NM_000465.4(BARD1):c.627A>G (p.Lys209=)
|
|
|
|
NM_000465.4(BARD1):c.627_628del (p.Lys209fs)
|
rs864622223
|
|
|
NM_000465.4(BARD1):c.628del (p.Thr210fs)
|
|
|
|
NM_000465.4(BARD1):c.629C>A (p.Thr210Asn)
|
rs1695008080
|
|
|
NM_000465.4(BARD1):c.629C>T (p.Thr210Ile)
|
rs1695008080
|
|
|
NM_000465.4(BARD1):c.62G>C (p.Arg21Pro)
|
rs1696468454
|
|
|
NM_000465.4(BARD1):c.630T>A (p.Thr210=)
|
rs1574820293
|
|
|
NM_000465.4(BARD1):c.631_632del (p.Leu211fs)
|
|
|
|
NM_000465.4(BARD1):c.632T>A (p.Leu211Ter)
|
rs762171436
|
|
|
NM_000465.4(BARD1):c.632T>G (p.Leu211Ter)
|
rs762171436
|
|
|
NM_000465.4(BARD1):c.632del (p.Thr210_Leu211insTer)
|
|
|
|
NM_000465.4(BARD1):c.632dup (p.Leu211fs)
|
rs999444545
|
|
|
NM_000465.4(BARD1):c.634_635delinsCT (p.Ala212Leu)
|
|
|
|
NM_000465.4(BARD1):c.635C>T (p.Ala212Val)
|
rs1400642945
|
|
|
NM_000465.4(BARD1):c.636T>C (p.Ala212=)
|
|
|
|
NM_000465.4(BARD1):c.637G>A (p.Glu213Lys)
|
rs1553622554
|
|
|
NM_000465.4(BARD1):c.638A>C (p.Glu213Ala)
|
|
|
|
NM_000465.4(BARD1):c.638A>T (p.Glu213Val)
|
|
|
|
NM_000465.4(BARD1):c.63T>C (p.Arg21=)
|
rs1574869680
|
|
|
NM_000465.4(BARD1):c.640A>G (p.Ile214Val)
|
rs1351507623
|
|
|
NM_000465.4(BARD1):c.640dup (p.Ile214fs)
|
|
|
|
NM_000465.4(BARD1):c.641T>G (p.Ile214Ser)
|
rs1695006868
|
|
|
NM_000465.4(BARD1):c.642C>T (p.Ile214=)
|
|
|
|
NM_000465.4(BARD1):c.643A>G (p.Asn215Asp)
|
|
|
|
NM_000465.4(BARD1):c.643A>T (p.Asn215Tyr)
|
rs864622353
|
|
|
NM_000465.4(BARD1):c.645C>T (p.Asn215=)
|
|
|
|
NM_000465.4(BARD1):c.646C>A (p.Gln216Lys)
|
|
|
|
NM_000465.4(BARD1):c.646del (p.Gln216fs)
|
rs1553622542
|
|
|
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.653G>T (p.Trp218Leu)
|
rs1553622534
|
|
|
NM_000465.4(BARD1):c.654G>A (p.Trp218Ter)
|
rs1553622530
|
|
|
NM_000465.4(BARD1):c.654G>C (p.Trp218Cys)
|
rs1553622530
|
|
|
NM_000465.4(BARD1):c.655A>G (p.Asn219Asp)
|
rs1695005574
|
|
|
NM_000465.4(BARD1):c.657T>A (p.Asn219Lys)
|
|
|
|
NM_000465.4(BARD1):c.657T>C (p.Asn219=)
|
|
|
|
NM_000465.4(BARD1):c.657_660del (p.Asn219fs)
|
rs587781671
|
|
|
NM_000465.4(BARD1):c.659del (p.Asn219_Leu220insTer)
|
|
|
|
NM_000465.4(BARD1):c.659dup (p.Leu220fs)
|
|
|
|
NM_000465.4(BARD1):c.65_101del (p.Ser22fs)
|
rs1574869326
|
|
|
NM_000465.4(BARD1):c.660A>G (p.Leu220=)
|
|
|
|
NM_000465.4(BARD1):c.661G>C (p.Glu221Gln)
|
rs1695005056
|
|
|
NM_000465.4(BARD1):c.663G>A (p.Glu221=)
|
|
|
|
NM_000465.4(BARD1):c.664G>A (p.Ala222Thr)
|
rs1574820102
|
|
|
NM_000465.4(BARD1):c.667G>C (p.Glu223Gln)
|
rs1695004426
|
|
|
NM_000465.4(BARD1):c.669A>T (p.Glu223Asp)
|
rs786201963
|
|
|
NM_000465.4(BARD1):c.66C>T (p.Ser22=)
|
rs1297856328
|
|
|
NM_000465.4(BARD1):c.66_70delinsTGCGT (p.Pro24Ser)
|
|
|
|
NM_000465.4(BARD1):c.672A>G (p.Lys224=)
|
rs1574820067
|
|
|
NM_000465.4(BARD1):c.672del (p.Glu225fs)
|
|
|
|
NM_000465.4(BARD1):c.673G>A (p.Glu225Lys)
|
rs1064793049
|
|
|
NM_000465.4(BARD1):c.673G>C (p.Glu225Gln)
|
rs1064793049
|
|
|
NM_000465.4(BARD1):c.673G>T (p.Glu225Ter)
|
rs1064793049
|
|
|
NM_000465.4(BARD1):c.674A>C (p.Glu225Ala)
|
rs769611057
|
|
|
NM_000465.4(BARD1):c.674A>T (p.Glu225Val)
|
|
|
|
NM_000465.4(BARD1):c.675A>T (p.Glu225Asp)
|
rs1559425348
|
|
|
NM_000465.4(BARD1):c.676G>C (p.Asp226His)
|
rs876659965
|
|
|
NM_000465.4(BARD1):c.677A>G (p.Asp226Gly)
|
rs745368624
|
|
|
NM_000465.4(BARD1):c.678T>C (p.Asp226=)
|
rs1574820006
|
|
|
NM_000465.4(BARD1):c.679G>A (p.Gly227Ser)
|
rs1695002987
|
|
|
NM_000465.4(BARD1):c.679G>C (p.Gly227Arg)
|
|
|
|
NM_000465.4(BARD1):c.680G>A (p.Gly227Asp)
|
rs1553622515
|
|
|
NM_000465.4(BARD1):c.680dup (p.Gly227_Glu228insTer)
|
|
|
|
NM_000465.4(BARD1):c.681T>C (p.Gly227=)
|
rs1060504196
|
|
|
NM_000465.4(BARD1):c.682G>T (p.Glu228Ter)
|
|
|
|
NM_000465.4(BARD1):c.683A>T (p.Glu228Val)
|
rs2106110998
|
|
|
NM_000465.4(BARD1):c.684A>T (p.Glu228Asp)
|
rs780627045
|
|
|
NM_000465.4(BARD1):c.684del (p.Glu228fs)
|
|
|
|
NM_000465.4(BARD1):c.686_687insG (p.Phe229fs)
|
|
|
|
NM_000465.4(BARD1):c.687_719del (p.Phe229_Val240delinsLeu)
|
|
|
|
NM_000465.4(BARD1):c.688G>A (p.Asp230Asn)
|
rs1574819948
|
|
|
NM_000465.4(BARD1):c.688G>C (p.Asp230His)
|
rs1574819948
|
|
|
NM_000465.4(BARD1):c.688G>T (p.Asp230Tyr)
|
rs1574819948
|
|
|
NM_000465.4(BARD1):c.689A>G (p.Asp230Gly)
|
rs751384676
|
|
|
NM_000465.4(BARD1):c.68C>T (p.Ala23Val)
|
rs1696467337
|
|
|
NM_000465.4(BARD1):c.690C>T (p.Asp230=)
|
rs587780034
|
|
|
NM_000465.4(BARD1):c.693C>G (p.Ser231=)
|
rs2106110948
|
|
|
NM_000465.4(BARD1):c.693C>T (p.Ser231=)
|
rs2106110948
|
|
|
NM_000465.4(BARD1):c.694A>C (p.Lys232Gln)
|
rs1695001554
|
|
|
NM_000465.4(BARD1):c.694A>G (p.Lys232Glu)
|
rs1695001554
|
|
|
NM_000465.4(BARD1):c.696A>C (p.Lys232Asn)
|
|
|
|
NM_000465.4(BARD1):c.696A>G (p.Lys232=)
|
|
|
|
NM_000465.4(BARD1):c.697G>T (p.Glu233Ter)
|
|
|
|
NM_000465.4(BARD1):c.699G>A (p.Glu233=)
|
rs1002531703
|
|
|
NM_000465.4(BARD1):c.699G>T (p.Glu233Asp)
|
|
|
|
NM_000465.4(BARD1):c.69G>C (p.Ala23=)
|
rs1574869633
|
|
|
NM_000465.4(BARD1):c.69G>T (p.Ala23=)
|
|
|
|
NM_000465.4(BARD1):c.69_70delinsAT (p.Pro24Ser)
|
rs2106171516
|
|
|
NM_000465.4(BARD1):c.69_70delinsTCCGGGAACGAGCCTCGTTCCGCGT (p.Ala25fs)
|
rs876659040
|
|
|
NM_000465.4(BARD1):c.6G>A (p.Pro2=)
|
rs876660278
|
|
|
NM_000465.4(BARD1):c.6G>T (p.Pro2=)
|
rs876660278
|
|
|
NM_000465.4(BARD1):c.700G>A (p.Glu234Lys)
|
|
|
|
NM_000465.4(BARD1):c.700G>C (p.Glu234Gln)
|
rs905491643
|
|
|
NM_000465.4(BARD1):c.700G>T (p.Glu234Ter)
|
rs905491643
|
|
|
NM_000465.4(BARD1):c.701A>T (p.Glu234Val)
|
|
|
|
NM_000465.4(BARD1):c.702A>G (p.Glu234=)
|
rs786202878
|
|
|
NM_000465.4(BARD1):c.706A>G (p.Lys236Glu)
|
rs1695000597
|
|
|
NM_000465.4(BARD1):c.707A>G (p.Lys236Arg)
|
rs1488654033
|
|
|
NM_000465.4(BARD1):c.707A>T (p.Lys236Met)
|
rs1488654033
|
|
|
NM_000465.4(BARD1):c.708G>A (p.Lys236=)
|
rs1553622499
|
|
|
NM_000465.4(BARD1):c.709C>T (p.Gln237Ter)
|
rs587780035
|
|
|
NM_000465.4(BARD1):c.70_73delinsTCCC (p.Pro24_Ala25delinsSerPro)
|
|
|
|
NM_000465.4(BARD1):c.716_732del (p.Leu239fs)
|
|
|
|
NM_000465.4(BARD1):c.716del (p.Leu239fs)
|
rs2106110871
|
|
|
NM_000465.4(BARD1):c.717G>A (p.Leu239=)
|
rs760951875
|
|
|
NM_000465.4(BARD1):c.717G>C (p.Leu239=)
|
|
|
|
NM_000465.4(BARD1):c.718G>A (p.Val240Ile)
|
rs2106110857
|
|
|
NM_000465.4(BARD1):c.718G>C (p.Val240Leu)
|
|
|
|
NM_000465.4(BARD1):c.71C>G (p.Pro24Arg)
|
rs863224674
|
|
|
NM_000465.4(BARD1):c.721T>C (p.Ser241Pro)
|
rs1553622496
|
|
|
NM_000465.4(BARD1):c.723C>A (p.Ser241=)
|
rs1230339708
|
|
|
NM_000465.4(BARD1):c.724T>C (p.Phe242Leu)
|
rs745837404
|
|
|
NM_000465.4(BARD1):c.725T>C (p.Phe242Ser)
|
|
|
|
NM_000465.4(BARD1):c.726C>G (p.Phe242Leu)
|
rs876659277
|
|
|
NM_000465.4(BARD1):c.728G>A (p.Cys243Tyr)
|
rs767432527
|
|
|
NM_000465.4(BARD1):c.72C>A (p.Pro24=)
|
rs2106171466
|
|
|
NM_000465.4(BARD1):c.72C>T (p.Pro24=)
|
|
|
|
NM_000465.4(BARD1):c.730A>G (p.Ser244Gly)
|
rs2106110774
|
|
|
NM_000465.4(BARD1):c.730dup (p.Ser244fs)
|
|
|
|
NM_000465.4(BARD1):c.732C>G (p.Ser244Arg)
|
|
|
|
NM_000465.4(BARD1):c.732C>T (p.Ser244=)
|
rs774675180
|
|
|
NM_000465.4(BARD1):c.733C>T (p.Gln245Ter)
|
rs587781430
|
|
|
NM_000465.4(BARD1):c.733_734insTGGAT (p.Gln245fs)
|
|
|
|
NM_000465.4(BARD1):c.736C>A (p.Pro246Thr)
|
rs927730167
|
|
|
NM_000465.4(BARD1):c.736C>T (p.Pro246Ser)
|
rs927730167
|
|
|
NM_000465.4(BARD1):c.737C>T (p.Pro246Leu)
|
rs151325889
|
|
|
NM_000465.4(BARD1):c.737dup (p.Ser247fs)
|
|
|
|
NM_000465.4(BARD1):c.73G>A (p.Ala25Thr)
|
rs751646468
|
|
|
NM_000465.4(BARD1):c.740C>G (p.Ser247Cys)
|
rs1694997334
|
|
|
NM_000465.4(BARD1):c.741T>C (p.Ser247=)
|
|
|
|
NM_000465.4(BARD1):c.741_750del (p.Ile249fs)
|
rs1559425098
|
|
|
NM_000465.4(BARD1):c.742G>A (p.Val248Ile)
|
rs1574819641
|
|
|
NM_000465.4(BARD1):c.743T>A (p.Val248Asp)
|
|
|
|
NM_000465.4(BARD1):c.744T>C (p.Val248=)
|
rs1559425138
|
|
|
NM_000465.4(BARD1):c.745A>G (p.Ile249Val)
|
rs745462573
|
|
|
NM_000465.4(BARD1):c.745dup (p.Ile249fs)
|
rs1553622487
|
|
|
NM_000465.4(BARD1):c.747C>A (p.Ile249=)
|
|
|
|
NM_000465.4(BARD1):c.747C>T (p.Ile249=)
|
rs746551077
|
|
|
NM_000465.4(BARD1):c.748T>C (p.Ser250Pro)
|
rs570022823
|
|
|
NM_000465.4(BARD1):c.748T>G (p.Ser250Ala)
|
rs570022823
|
|
|
NM_000465.4(BARD1):c.749C>A (p.Ser250Tyr)
|
rs1694996136
|
|
|
NM_000465.4(BARD1):c.74C>T (p.Ala25Val)
|
rs764023867
|
|
|
NM_000465.4(BARD1):c.750C>G (p.Ser250=)
|
rs1553622481
|
|
|
NM_000465.4(BARD1):c.751A>G (p.Ser251Gly)
|
|
|
|
NM_000465.4(BARD1):c.752G>A (p.Ser251Asn)
|
rs1553622477
|
|
|
NM_000465.4(BARD1):c.752G>C (p.Ser251Thr)
|
|
|
|
NM_000465.4(BARD1):c.752G>T (p.Ser251Ile)
|
rs1553622477
|
|
|
NM_000465.4(BARD1):c.754C>T (p.Pro252Ser)
|
rs758368819
|
|
|
NM_000465.4(BARD1):c.755del (p.Pro252fs)
|
rs1553622471
|
|
|
NM_000465.4(BARD1):c.758A>C (p.Gln253Pro)
|
rs1694995045
|
|
|
NM_000465.4(BARD1):c.760A>C (p.Ile254Leu)
|
rs879253984
|
|
|
NM_000465.4(BARD1):c.761T>A (p.Ile254Lys)
|
rs1395313064
|
|
|
NM_000465.4(BARD1):c.763A>G (p.Asn255Asp)
|
rs1694994506
|
|
|
NM_000465.4(BARD1):c.764A>C (p.Asn255Thr)
|
rs138904906
|
|
|
NM_000465.4(BARD1):c.765T>A (p.Asn255Lys)
|
rs754775017
|
|
|
NM_000465.4(BARD1):c.766G>C (p.Gly256Arg)
|
rs1553622462
|
|
|
NM_000465.4(BARD1):c.767G>A (p.Gly256Asp)
|
|
|
|
NM_000465.4(BARD1):c.768T>G (p.Gly256=)
|
|
|
|
NM_000465.4(BARD1):c.769G>A (p.Glu257Lys)
|
rs587782673
|
|
|
NM_000465.4(BARD1):c.769G>C (p.Glu257Gln)
|
|
|
|
NM_000465.4(BARD1):c.76A>C (p.Met26Leu)
|
rs587781570
|
|
|
NM_000465.4(BARD1):c.76A>T (p.Met26Leu)
|
rs587781570
|
|
|
NM_000465.4(BARD1):c.775G>A (p.Asp259Asn)
|
rs1195999928
|
|
|
NM_000465.4(BARD1):c.776A>T (p.Asp259Val)
|
rs587780036
|
|
|
NM_000465.4(BARD1):c.776del (p.Asp259fs)
|
|
|
|
NM_000465.4(BARD1):c.778T>C (p.Leu260=)
|
rs2106110501
|
|
|
NM_000465.4(BARD1):c.779T>G (p.Leu260Ter)
|
rs1559425010
|
|
|
NM_000465.4(BARD1):c.77T>C (p.Met26Thr)
|
rs759957629
|
|
|
NM_000465.4(BARD1):c.780A>G (p.Leu260=)
|
|
|
|
NM_000465.4(BARD1):c.780dup (p.Leu261fs)
|
rs2106110487
|
|
|
NM_000465.4(BARD1):c.781C>T (p.Leu261=)
|
rs767806228
|
|
|
NM_000465.4(BARD1):c.782T>C (p.Leu261Pro)
|
rs1275950974
|
|
|
NM_000465.4(BARD1):c.782dup (p.Ala262fs)
|
|
|
|
NM_000465.4(BARD1):c.783_788del (p.Ala262_Ser263del)
|
rs1574819364
|
|
|
NM_000465.4(BARD1):c.784G>A (p.Ala262Thr)
|
|
|
|
NM_000465.4(BARD1):c.785C>T (p.Ala262Val)
|
rs1553622444
|
|
|
NM_000465.4(BARD1):c.786A>G (p.Ala262=)
|
|
|
|
NM_000465.4(BARD1):c.787A>G (p.Ser263Gly)
|
|
|
|
NM_000465.4(BARD1):c.787A>T (p.Ser263Cys)
|
rs1559424979
|
|
|
NM_000465.4(BARD1):c.788G>A (p.Ser263Asn)
|
rs1553622443
|
|
|
NM_000465.4(BARD1):c.789T>A (p.Ser263Arg)
|
|
|
|
NM_000465.4(BARD1):c.789T>C (p.Ser263=)
|
rs1345594874
|
|
|
NM_000465.4(BARD1):c.792C>G (p.Gly264=)
|
|
|
|
NM_000465.4(BARD1):c.792C>T (p.Gly264=)
|
rs1276619198
|
|
|
NM_000465.4(BARD1):c.793T>A (p.Ser265Thr)
|
rs751701338
|
|
|
NM_000465.4(BARD1):c.793T>C (p.Ser265Pro)
|
rs751701338
|
|
|
NM_000465.4(BARD1):c.794C>G (p.Ser265Cys)
|
|
|
|
NM_000465.4(BARD1):c.794C>T (p.Ser265Phe)
|
rs1434287864
|
|
|
NM_000465.4(BARD1):c.795C>A (p.Ser265=)
|
|
|
|
NM_000465.4(BARD1):c.796T>A (p.Leu266Met)
|
|
|
|
NM_000465.4(BARD1):c.796T>C (p.Leu266=)
|
rs2106110370
|
|
|
NM_000465.4(BARD1):c.798G>C (p.Leu266Phe)
|
rs1553622436
|
|
|
NM_000465.4(BARD1):c.799A>T (p.Thr267Ser)
|
|
|
|
NM_000465.4(BARD1):c.79G>T (p.Glu27Ter)
|
rs587780037
|
|
|
NM_000465.4(BARD1):c.7G>A (p.Asp3Asn)
|
rs1060501282
|
|
|
NM_000465.4(BARD1):c.7G>C (p.Asp3His)
|
rs1060501282
|
|
|
NM_000465.4(BARD1):c.7G>T (p.Asp3Tyr)
|
rs1060501282
|
|
|
NM_000465.4(BARD1):c.7_21del (p.Asp3_Pro7del)
|
|
|
|
NM_000465.4(BARD1):c.800C>T (p.Thr267Ile)
|
rs1338972046
|
|
|
NM_000465.4(BARD1):c.802G>T (p.Glu268Ter)
|
|
|
|
NM_000465.4(BARD1):c.803A>G (p.Glu268Gly)
|
rs910515761
|
|
|
NM_000465.4(BARD1):c.807T>A (p.Ser269=)
|
|
|
|
NM_000465.4(BARD1):c.808G>T (p.Glu270Ter)
|
rs1060501288
|
|
|
NM_000465.4(BARD1):c.80A>C (p.Glu27Ala)
|
rs989352819
|
|
|
NM_000465.4(BARD1):c.810A>C (p.Glu270Asp)
|
rs1553622429
|
|
|
NM_000465.4(BARD1):c.810del (p.Glu270fs)
|
|
|
|
NM_000465.4(BARD1):c.812G>C (p.Cys271Ser)
|
|
|
|
NM_000465.4(BARD1):c.815T>C (p.Phe272Ser)
|
|
|
|
NM_000465.4(BARD1):c.815T>G (p.Phe272Cys)
|
rs1060501296
|
|
|
NM_000465.4(BARD1):c.816T>A (p.Phe272Leu)
|
|
|
|
NM_000465.4(BARD1):c.817G>A (p.Gly273Arg)
|
|
|
|
NM_000465.4(BARD1):c.819A>T (p.Gly273=)
|
rs1694990515
|
|
|
NM_000465.4(BARD1):c.81A>G (p.Glu27=)
|
|
|
|
NM_000465.4(BARD1):c.820A>G (p.Ser274Gly)
|
rs1553622422
|
|
|
NM_000465.4(BARD1):c.823T>A (p.Leu275Ile)
|
rs776157713
|
|
|
NM_000465.4(BARD1):c.824T>A (p.Leu275Ter)
|
rs765629130
|
|
|
NM_000465.4(BARD1):c.824T>C (p.Leu275Ser)
|
rs765629130
|
|
|
NM_000465.4(BARD1):c.824dup (p.Leu275fs)
|
|
|
|
NM_000465.4(BARD1):c.826A>G (p.Thr276Ala)
|
rs876659291
|
|
|
NM_000465.4(BARD1):c.827C>G (p.Thr276Ser)
|
rs1694989668
|
|
|
NM_000465.4(BARD1):c.828T>C (p.Thr276=)
|
rs1574819148
|
|
|
NM_000465.4(BARD1):c.829G>T (p.Glu277Ter)
|
|
|
|
NM_000465.4(BARD1):c.82C>G (p.Pro28Ala)
|
rs770702450
|
|
|
NM_000465.4(BARD1):c.831A>G (p.Glu277=)
|
|
|
|
NM_000465.4(BARD1):c.833T>G (p.Val278Gly)
|
rs1440649518
|
|
|
NM_000465.4(BARD1):c.834C>A (p.Val278=)
|
|
|
|
NM_000465.4(BARD1):c.834C>G (p.Val278=)
|
|
|
|
NM_000465.4(BARD1):c.834C>T (p.Val278=)
|
|
|
|
NM_000465.4(BARD1):c.836C>G (p.Ser279Cys)
|
|
|
|
NM_000465.4(BARD1):c.837T>A (p.Ser279=)
|
rs760006966
|
|
|
NM_000465.4(BARD1):c.837T>C (p.Ser279=)
|
|
|
|
NM_000465.4(BARD1):c.838_839del (p.Leu280fs)
|
rs876659752
|
|
|
NM_000465.4(BARD1):c.839T>C (p.Leu280Ser)
|
rs1574819068
|
|
|
NM_000465.4(BARD1):c.839dup (p.Leu280fs)
|
|
|
|
NM_000465.4(BARD1):c.83del (p.Pro28fs)
|
rs2106171367
|
|
|
NM_000465.4(BARD1):c.840A>G (p.Leu280=)
|
rs2106110219
|
|
|
NM_000465.4(BARD1):c.843_845dup (p.Leu282_Ala283insLeu)
|
|
|
|
NM_000465.4(BARD1):c.844T>A (p.Leu282Met)
|
rs1574819001
|
|
|
NM_000465.4(BARD1):c.844T>C (p.Leu282=)
|
rs1574819001
|
|
|
NM_000465.4(BARD1):c.847G>A (p.Ala283Thr)
|
rs923851371
|
|
|
NM_000465.4(BARD1):c.847G>C (p.Ala283Pro)
|
rs923851371
|
|
|
NM_000465.4(BARD1):c.848C>T (p.Ala283Val)
|
rs1694987682
|
|
|
NM_000465.4(BARD1):c.849T>G (p.Ala283=)
|
|
|
|
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.850G>A (p.Glu284Lys)
|
rs1694987566
|
|
|
NM_000465.4(BARD1):c.850G>C (p.Glu284Gln)
|
|
|
|
NM_000465.4(BARD1):c.852G>A (p.Glu284=)
|
rs2106110152
|
|
|
NM_000465.4(BARD1):c.853C>G (p.Gln285Glu)
|
rs746470339
|
|
|
NM_000465.4(BARD1):c.853dup (p.Gln285fs)
|
|
|
|
NM_000465.4(BARD1):c.854A>G (p.Gln285Arg)
|
rs1694987314
|
|
|
NM_000465.4(BARD1):c.855A>C (p.Gln285His)
|
|
|
|
NM_000465.4(BARD1):c.855A>G (p.Gln285=)
|
rs1694987168
|
|
|
NM_000465.4(BARD1):c.855A>T (p.Gln285His)
|
rs1694987168
|
|
|
NM_000465.4(BARD1):c.856del (p.Gln285_Ile286insTer)
|
rs2106110129
|
|
|
NM_000465.4(BARD1):c.858A>G (p.Ile286Met)
|
rs772845446
|
|
|
NM_000465.4(BARD1):c.858dup (p.Glu287fs)
|
rs1553622397
|
|
|
NM_000465.4(BARD1):c.859G>A (p.Glu287Lys)
|
rs1694986734
|
|
|
NM_000465.4(BARD1):c.85G>A (p.Asp29Asn)
|
rs1553628425
|
|
|
NM_000465.4(BARD1):c.860A>T (p.Glu287Val)
|
rs1197692311
|
|
|
NM_000465.4(BARD1):c.860_861del (p.Glu287fs)
|
rs786201868
|
|
|
NM_000465.4(BARD1):c.862_863insGG (p.Ser288fs)
|
|
|
|
NM_000465.4(BARD1):c.865C>G (p.Pro289Ala)
|
rs1553622386
|
|
|
NM_000465.4(BARD1):c.865C>T (p.Pro289Ser)
|
rs1553622386
|
|
|
NM_000465.4(BARD1):c.867A>G (p.Pro289=)
|
rs1574818859
|
|
|
NM_000465.4(BARD1):c.868G>A (p.Asp290Asn)
|
rs1574818847
|
|
|
NM_000465.4(BARD1):c.869A>G (p.Asp290Gly)
|
rs1553622382
|
|
|
NM_000465.4(BARD1):c.86A>C (p.Asp29Ala)
|
rs777491507
|
|
|
NM_000465.4(BARD1):c.86A>T (p.Asp29Val)
|
rs777491507
|
|
|
NM_000465.4(BARD1):c.870C>T (p.Asp290=)
|
rs1694985290
|
|
|
NM_000465.4(BARD1):c.872C>G (p.Thr291Ser)
|
rs2106110019
|
|
|
NM_000465.4(BARD1):c.872del (p.Thr291fs)
|
rs1574818832
|
|
|
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=)
|
|
|
|
NM_000465.4(BARD1):c.876G>C (p.Lys292Asn)
|
rs1449269582
|
|
|
NM_000465.4(BARD1):c.878G>A (p.Ser293Asn)
|
rs1574818784
|
|
|
NM_000465.4(BARD1):c.879C>T (p.Ser293=)
|
|
|
|
NM_000465.4(BARD1):c.87T>C (p.Asp29=)
|
rs1559454445
|
|
|
NM_000465.4(BARD1):c.880A>G (p.Arg294Gly)
|
rs1553622373
|
|
|
NM_000465.4(BARD1):c.884A>G (p.Asn295Ser)
|
rs1448645093
|
|
|
NM_000465.4(BARD1):c.884_888del (p.Asn295fs)
|
|
|
|
NM_000465.4(BARD1):c.885T>C (p.Asn295=)
|
rs1433418104
|
|
|
NM_000465.4(BARD1):c.885T>G (p.Asn295Lys)
|
rs1433418104
|
|
|
NM_000465.4(BARD1):c.886G>C (p.Glu296Gln)
|
rs1553622368
|
|
|
NM_000465.4(BARD1):c.888A>G (p.Glu296=)
|
|
|
|
NM_000465.4(BARD1):c.888AGT[1] (p.Val298del)
|
rs1694983540
|
|
|
NM_000465.4(BARD1):c.889G>C (p.Val297Leu)
|
rs754720101
|
|
|
NM_000465.4(BARD1):c.88G>T (p.Gly30Cys)
|
rs1696463008
|
|
|
NM_000465.4(BARD1):c.891_895del (p.Val298fs)
|
rs1574818696
|
|
|
NM_000465.4(BARD1):c.894G>A (p.Val298=)
|
|
|
|
NM_000465.4(BARD1):c.895A>G (p.Thr299Ala)
|
rs1694983227
|
|
|
NM_000465.4(BARD1):c.896C>G (p.Thr299Ser)
|
rs141934748
|
|
|
NM_000465.4(BARD1):c.896C>T (p.Thr299Ile)
|
|
|
|
NM_000465.4(BARD1):c.897T>C (p.Thr299=)
|
rs559051241
|
|
|
NM_000465.4(BARD1):c.898C>A (p.Pro300Thr)
|
rs1064793050
|
|
|
NM_000465.4(BARD1):c.898C>G (p.Pro300Ala)
|
rs1064793050
|
|
|
NM_000465.4(BARD1):c.8A>T (p.Asp3Val)
|
|
|
|
NM_000465.4(BARD1):c.900T>C (p.Pro300=)
|
|
|
|
NM_000465.4(BARD1):c.902A>G (p.Glu301Gly)
|
rs2106109867
|
|
|
NM_000465.4(BARD1):c.903G>A (p.Glu301=)
|
rs1694982551
|
|
|
NM_000465.4(BARD1):c.905A>C (p.Lys302Thr)
|
rs1553622357
|
|
|
NM_000465.4(BARD1):c.906G>A (p.Lys302=)
|
|
|
|
NM_000465.4(BARD1):c.906G>C (p.Lys302Asn)
|
rs1412871752
|
|
|
NM_000465.4(BARD1):c.907G>A (p.Val303Ile)
|
rs375048835
|
|
|
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.918T>C (p.Asn306=)
|
rs1057521226
|
|
|
NM_000465.4(BARD1):c.919T>C (p.Tyr307His)
|
rs1694981227
|
|
|
NM_000465.4(BARD1):c.91C>G (p.Arg31Gly)
|
rs1064795053
|
|
|
NM_000465.4(BARD1):c.91C>T (p.Arg31Cys)
|
rs1064795053
|
|
|
NM_000465.4(BARD1):c.920A>G (p.Tyr307Cys)
|
rs764215274
|
|
|
NM_000465.4(BARD1):c.920A>T (p.Tyr307Phe)
|
rs764215274
|
|
|
NM_000465.4(BARD1):c.921T>C (p.Tyr307=)
|
|
|
|
NM_000465.4(BARD1):c.924T>A (p.Leu308=)
|
rs758559877
|
|
|
NM_000465.4(BARD1):c.924T>C (p.Leu308=)
|
|
|
|
NM_000465.4(BARD1):c.924T>G (p.Leu308=)
|
rs758559877
|
|
|
NM_000465.4(BARD1):c.925A>T (p.Thr309Ser)
|
rs2106109742
|
|
|
NM_000465.4(BARD1):c.925dup (p.Thr309fs)
|
rs2106109750
|
|
|
NM_000465.4(BARD1):c.926C>A (p.Thr309Lys)
|
rs1236791029
|
|
|
NM_000465.4(BARD1):c.927A>C (p.Thr309=)
|
|
|
|
NM_000465.4(BARD1):c.927A>G (p.Thr309=)
|
rs863224365
|
|
|
NM_000465.4(BARD1):c.928T>C (p.Ser310Pro)
|
|
|
|
NM_000465.4(BARD1):c.92dup (p.Gly32fs)
|
|
|
|
NM_000465.4(BARD1):c.930T>C (p.Ser310=)
|
|
|
|
NM_000465.4(BARD1):c.930T>G (p.Ser310=)
|
rs1182174277
|
|
|
NM_000465.4(BARD1):c.931A>G (p.Lys311Glu)
|
rs1553622337
|
|
|
NM_000465.4(BARD1):c.932A>G (p.Lys311Arg)
|
|
|
|
NM_000465.4(BARD1):c.934A>C (p.Lys312Gln)
|
rs1060501291
|
|
|
NM_000465.4(BARD1):c.934A>T (p.Lys312Ter)
|
rs1060501291
|
|
|
NM_000465.4(BARD1):c.935A>C (p.Lys312Thr)
|
|
|
|
NM_000465.4(BARD1):c.938C>A (p.Ser313Tyr)
|
rs202118376
|
|
|
NM_000465.4(BARD1):c.938C>G (p.Ser313Cys)
|
rs202118376
|
|
|
NM_000465.4(BARD1):c.939T>A (p.Ser313=)
|
|
|
|
NM_000465.4(BARD1):c.939T>C (p.Ser313=)
|
rs765858289
|
|
|
NM_000465.4(BARD1):c.939T>G (p.Ser313=)
|
|
|
|
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.941T>C (p.Leu314Ser)
|
rs199857391
|
|
|
NM_000465.4(BARD1):c.945A>C (p.Pro315=)
|
rs876660284
|
|
|
NM_000465.4(BARD1):c.945A>G (p.Pro315=)
|
rs876660284
|
|
|
NM_000465.4(BARD1):c.947T>G (p.Leu316Ter)
|
rs587781728
|
|
|
NM_000465.4(BARD1):c.947del (p.Pro315_Leu316insTer)
|
|
|
|
NM_000465.4(BARD1):c.948A>G (p.Leu316=)
|
rs1553622329
|
|
|
NM_000465.4(BARD1):c.949G>A (p.Glu317Lys)
|
rs1559424451
|
|
|
NM_000465.4(BARD1):c.949G>C (p.Glu317Gln)
|
rs1559424451
|
|
|
NM_000465.4(BARD1):c.94G>A (p.Gly32Ser)
|
rs1224914625
|
|
|
NM_000465.4(BARD1):c.94G>C (p.Gly32Arg)
|
rs1224914625
|
|
|
NM_000465.4(BARD1):c.94G>T (p.Gly32Cys)
|
|
|
|
NM_000465.4(BARD1):c.950A>T (p.Glu317Val)
|
|
|
|
NM_000465.4(BARD1):c.950_957delinsG (p.Glu317fs)
|
|
|
|
NM_000465.4(BARD1):c.951A>G (p.Glu317=)
|
|
|
|
NM_000465.4(BARD1):c.952A>G (p.Asn318Asp)
|
rs565582076
|
|
|
NM_000465.4(BARD1):c.952A>T (p.Asn318Tyr)
|
rs565582076
|
|
|
NM_000465.4(BARD1):c.953A>G (p.Asn318Ser)
|
rs1553622328
|
|
|
NM_000465.4(BARD1):c.954T>G (p.Asn318Lys)
|
rs771502065
|
|
|
NM_000465.4(BARD1):c.955A>G (p.Asn319Asp)
|
|
|
|
NM_000465.4(BARD1):c.958G>A (p.Gly320Arg)
|
rs878854017
|
|
|
NM_000465.4(BARD1):c.95_115del (p.Gly32_Arg38del)
|
rs1553628381
|
|
|
NM_000465.4(BARD1):c.961A>T (p.Lys321Ter)
|
|
|
|
NM_000465.4(BARD1):c.963A>G (p.Lys321=)
|
|
|
|
NM_000465.4(BARD1):c.964C>G (p.Arg322Gly)
|
rs786203129
|
|
|
NM_000465.4(BARD1):c.966_967dup (p.Gly323fs)
|
|
|
|
NM_000465.4(BARD1):c.968G>A (p.Gly323Asp)
|
rs2106109498
|
|
|
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.971A>C (p.His324Pro)
|
rs1445844416
|
|
|
NM_000465.4(BARD1):c.971A>G (p.His324Arg)
|
rs1445844416
|
|
|
NM_000465.4(BARD1):c.972T>C (p.His324=)
|
|
|
|
NM_000465.4(BARD1):c.973C>G (p.His325Asp)
|
rs1358719583
|
|
|
NM_000465.4(BARD1):c.973C>T (p.His325Tyr)
|
|
|
|
NM_000465.4(BARD1):c.974A>G (p.His325Arg)
|
rs768621478
|
|
|
NM_000465.4(BARD1):c.974_986del (p.His325fs)
|
|
|
|
NM_000465.4(BARD1):c.975C>A (p.His325Gln)
|
rs876660202
|
|
|
NM_000465.4(BARD1):c.975_976del (p.His325fs)
|
|
|
|
NM_000465.4(BARD1):c.976A>C (p.Asn326His)
|
rs587780038
|
|
|
NM_000465.4(BARD1):c.976A>T (p.Asn326Tyr)
|
rs587780038
|
|
|
NM_000465.4(BARD1):c.978T>A (p.Asn326Lys)
|
rs1553622318
|
|
|
NM_000465.4(BARD1):c.978T>C (p.Asn326=)
|
|
|
|
NM_000465.4(BARD1):c.978T>G (p.Asn326Lys)
|
rs1553622318
|
|
|
NM_000465.4(BARD1):c.979A>T (p.Arg327Ter)
|
rs1559424358
|
|
|
NM_000465.4(BARD1):c.97G>T (p.Ala33Ser)
|
rs587782465
|
|
|
NM_000465.4(BARD1):c.982C>T (p.Leu328Phe)
|
rs1378818781
|
|
|
NM_000465.4(BARD1):c.983T>G (p.Leu328Arg)
|
|
|
|
NM_000465.4(BARD1):c.985T>C (p.Ser329Pro)
|
rs769493354
|
|
|
NM_000465.4(BARD1):c.985T>G (p.Ser329Ala)
|
rs769493354
|
|
|
NM_000465.4(BARD1):c.985del (p.Ser329fs)
|
|
|
|
NM_000465.4(BARD1):c.986C>A (p.Ser329Tyr)
|
rs905626929
|
|
|
NM_000465.4(BARD1):c.987C>A (p.Ser329=)
|
|
|
|
NM_000465.4(BARD1):c.987C>G (p.Ser329=)
|
|
|
|
NM_000465.4(BARD1):c.987C>T (p.Ser329=)
|
rs747190023
|
|
|
NM_000465.4(BARD1):c.988A>T (p.Ser330Cys)
|
|
|
|
NM_000465.4(BARD1):c.989G>A (p.Ser330Asn)
|
rs1574818102
|
|
|
NM_000465.4(BARD1):c.98C>T (p.Ala33Val)
|
rs1559454402
|
|
|
NM_000465.4(BARD1):c.991C>T (p.Pro331Ser)
|
rs1553622313
|
|
|
NM_000465.4(BARD1):c.992C>A (p.Pro331His)
|
rs1422030098
|
|
|
NM_000465.4(BARD1):c.994A>G (p.Ile332Val)
|
rs543606863
|
|
|
NM_000465.4(BARD1):c.994A>T (p.Ile332Phe)
|
rs543606863
|
|
|
NM_000465.4(BARD1):c.996T>G (p.Ile332Met)
|
rs1574818059
|
|
|
NM_000465.4(BARD1):c.998_999del (p.Ile332_Ser333insTer)
|
rs1482641121
|
|
|
NM_000465.4(BARD1):c.99C>A (p.Ala33=)
|
|
|
|
NM_000465.4(BARD1):c.99C>T (p.Ala33=)
|
rs1553628412
|
|
|
NM_000465.4(BARD1):c.99del (p.Trp34fs)
|
rs2106171232
|
|
|
NM_000465.4(BARD1):c.9T>C (p.Asp3=)
|
rs1574870148
|
|
|
NM_000465.4(BARD1):c.9T>G (p.Asp3Glu)
|
|
|
|
NM_000535.7(PMS2):c.1119_1122del (p.Gln374fs)
|
rs757679199
|
|
|
NM_000535.7(PMS2):c.1185C>T (p.Pro395=)
|
rs1562636721
|
|
|
NM_000535.7(PMS2):c.1201G>A (p.Asp401Asn)
|
rs1284362486
|
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
|
NM_000535.7(PMS2):c.1482G>A (p.Ser494=)
|
rs864622398
|
|
|
NM_000535.7(PMS2):c.1785A>G (p.Val595=)
|
rs2128723511
|
|
|
NM_000535.7(PMS2):c.1826T>C (p.Val609Ala)
|
rs1583315021
|
|
|
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu)
|
rs587780048
|
|
|
NM_000535.7(PMS2):c.2115G>C (p.Glu705Asp)
|
rs1562615196
|
|
|
NM_000535.7(PMS2):c.2160G>A (p.Gly720=)
|
rs546441038
|
|
|
NM_000535.7(PMS2):c.21G>C (p.Ser7=)
|
rs587780726
|
|
|
NM_000535.7(PMS2):c.2276-1_2445+2del
|
rs2128671526
|
|
|
NM_000535.7(PMS2):c.23+1G>A
|
rs587782074
|
|
|
NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter)
|
rs2128672286
|
|
|
NM_000535.7(PMS2):c.2438G>A (p.Arg813Gln)
|
rs587782665
|
|
|
NM_000535.7(PMS2):c.2445+1G>C
|
rs876661113
|
|
|
NM_000535.7(PMS2):c.321G>A (p.Arg107=)
|
rs756420858
|
|
|
NM_000535.7(PMS2):c.396A>G (p.Gly132=)
|
rs786201073
|
|
|
NM_000535.7(PMS2):c.451C>G (p.Arg151Gly)
|
rs758561884
|
|
|
NM_000535.7(PMS2):c.5A>G (p.Glu2Gly)
|
rs876658233
|
|
|
NM_000535.7(PMS2):c.683del (p.Gly228fs)
|
rs2128799493
|
|
|
NM_000535.7(PMS2):c.706-6_706-4del
|
rs60794673
|
|
|
NM_000535.7(PMS2):c.834T>A (p.His278Gln)
|
rs2128776000
|
|
|
NM_000535.7(PMS2):c.989-85_1144+3del
|
rs2128746806
|
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
|
NM_000546.6(TP53):c.1039G>A (p.Ala347Thr)
|
rs1597349147
|
|
|
NM_000546.6(TP53):c.1093C>T (p.His365Tyr)
|
rs267605075
|
|
|
NM_000546.6(TP53):c.1118del (p.Lys373fs)
|
rs2150988776
|
|
|
NM_000546.6(TP53):c.124_132del (p.Asp42_Met44del)
|
rs2151043202
|
|
|
NM_000546.6(TP53):c.176G>A (p.Gly59Asp)
|
rs1597374828
|
|
|
NM_000546.6(TP53):c.322G>C (p.Gly108Arg)
|
rs587782461
|
|
|
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)
|
rs11540654
|
|
|
NM_000546.6(TP53):c.386C>T (p.Ala129Val)
|
rs137852792
|
|
|
NM_000546.6(TP53):c.389T>C (p.Leu130Pro)
|
rs1131691013
|
|
|
NM_000546.6(TP53):c.390_426del (p.Asn131fs)
|
rs1597371154
|
|
|
NM_000546.6(TP53):c.398T>A (p.Met133Lys)
|
|
|
|
NM_000546.6(TP53):c.400T>G (p.Phe134Val)
|
rs267605077
|
|
|
NM_000546.6(TP53):c.414del (p.Lys139fs)
|
rs137852794
|
|
|
NM_000546.6(TP53):c.427G>A (p.Val143Met)
|
rs587782620
|
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
|
NM_000546.6(TP53):c.493C>T (p.Gln165Ter)
|
rs730882001
|
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
|
NM_000546.6(TP53):c.574C>T (p.Gln192Ter)
|
rs866380588
|
|
|
NM_000546.6(TP53):c.605G>A (p.Arg202His)
|
rs587778719
|
|
|
NM_000546.6(TP53):c.626G>A (p.Arg209Lys)
|
rs2073332791
|
|
|
NM_000546.6(TP53):c.637C>T (p.Arg213Ter)
|
rs397516436
|
|
|
NM_000546.6(TP53):c.63C>T (p.Asp21=)
|
rs1800369
|
|
|
NM_000546.6(TP53):c.672+1G>T
|
rs863224499
|
|
|
NM_000546.6(TP53):c.677G>C (p.Gly226Ala)
|
rs970212462
|
|
|
NM_000546.6(TP53):c.708C>G (p.Tyr236Ter)
|
rs1597365202
|
|
|
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)
|
rs876660807
|
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
|
NM_000546.6(TP53):c.730G>T (p.Gly244Cys)
|
rs1057519989
|
|
|
NM_000546.6(TP53):c.731del (p.Gly244fs)
|
rs2151021047
|
|
|
NM_000546.6(TP53):c.782+14T>G
|
rs1437756379
|
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
|
NM_000546.6(TP53):c.817C>G (p.Arg273Gly)
|
rs121913343
|
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
|
NM_000546.6(TP53):c.829T>C (p.Cys277Arg)
|
rs1064795369
|
|
|
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)
|
rs763098116
|
|
|
NM_000546.6(TP53):c.839_842dup (p.Asp281fs)
|
|
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
|
NM_000546.6(TP53):c.848_849del (p.Arg283fs)
|
rs2073188904
|
|
|
NM_000546.6(TP53):c.851_855del (p.Thr284fs)
|
rs2073187136
|
|
|
NM_000546.6(TP53):c.892G>A (p.Glu298Lys)
|
rs201744589
|
|
|
NM_000546.6(TP53):c.917G>A (p.Arg306Gln)
|
rs1048095040
|
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
|
NM_000546.6(TP53):c.993+2T>G
|
rs1597359053
|
|
|
NM_000603.5(NOS3):c.1250_1259del (p.Ile417fs)
|
|
|
|
NM_000698.5(ALOX5):c.490T>G (p.Leu164Val)
|
rs869025237
|
|
|
NM_000719.7(CACNA1C):c.5143C>T (p.Arg1715Trp)
|
rs373996684
|
|
|
NM_001002295.1:c.1482-5C>T
|
|
|
|
NM_001018113.3(FANCB):c.1480A>G (p.Thr494Ala)
|
rs1601985311
|
|
|
NM_001040108.2(MLH3):c.3034G>A (p.Ala1012Thr)
|
rs1057518875
|
|
|
NM_001040108.2(MLH3):c.4232A>T (p.Gln1411Leu)
|
|
|
|
NM_001048174.2(MUTYH):c.1258C>A (p.His420Asn)
|
rs786202133
|
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
|
NM_001048174.2(MUTYH):c.378+1G>T
|
rs1645259682
|
|
|
NM_001080413.3(NOBOX):c.138C>A (p.Tyr46Ter)
|
rs370043070
|
|
|
NM_001127208.3(TET2):c.2131G>C (p.Glu711Gln)
|
rs869025296
|
|
|
NM_001131034.4(RNF212):c.314T>C (p.Leu105Ser)
|
rs869025240
|
|
|
NM_001142556.2(HMMR):c.1360G>A (p.Glu454Lys)
|
|
|
|
NM_001142556.2(HMMR):c.1962+7A>G
|
|
|
|
NM_001142556.2(HMMR):c.319C>G (p.Gln107Glu)
|
|
|
|
NM_001142556.2(HMMR):c.769C>T (p.Gln257Ter)
|
|
|
|
NM_001282663.2(MICAL2):c.3131A>G (p.Asp1044Gly)
|
rs869025227
|
|
|
NM_001330368.2(C11orf65):c.640+16147_640+22966del
|
|
|
|
NM_001349956.2(CHEK2):c.444+119del
|
|
|
|
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)
|
rs121434592
|
|
|
NM_001382430.1(AKT1):c.567+16T>G
|
rs1892625907
|
|
|
NM_001382430.1(AKT1):c.653A>C (p.Gln218Pro)
|
rs2140910178
|
|
|
NM_001382430.1(AKT1):c.968A>G (p.Asp323Gly)
|
rs2140903030
|
|
|
NM_001407299.1(PALB2):c.3113+7271del
|
rs1597073423
|
|
|
NM_002485.5(NBN):c.1124+11_1124+13del
|
rs747584990
|
|
|
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs)
|
rs748513310
|
|
|
NM_002485.5(NBN):c.1264G>T (p.Ala422Ser)
|
rs1336243918
|
|
|
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter)
|
rs1554558613
|
|
|
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)
|
rs1554558472
|
|
|
NM_002485.5(NBN):c.1516C>G (p.Gln506Glu)
|
rs876658535
|
|
|
NM_002485.5(NBN):c.1946T>C (p.Met649Thr)
|
rs1554556582
|
|
|
NM_002485.5(NBN):c.2082T>C (p.Pro694=)
|
rs7823648
|
|
|
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del)
|
rs730881841
|
|
|
NM_002485.5(NBN):c.481-11C>T
|
rs2129890419
|
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
|
NM_002485.5(NBN):c.832T>G (p.Ser278Ala)
|
rs1225178489
|
|
|
NM_002485.5(NBN):c.93_94del (p.Ala32fs)
|
rs864622253
|
|
|
NM_002485.5(NBN):c.966C>G (p.Tyr322Ter)
|
rs748453607
|
|
|
NM_002555.6(SLC22A18):c.864_865ins[NC_000011.10:g.2919738_2919848]
|
|
|
|
NM_002691.4(POLD1):c.1243-11CTC[2]
|
rs760329559
|
|
|
NM_002691.4(POLD1):c.1892+9C>G
|
rs1060504366
|
|
|
NM_002875.5(RAD51):c.225+716G>A
|
|
|
|
NM_002875.5(RAD51):c.760C>T (p.Arg254Ter)
|
rs199925463
|
|
|
NM_002875.5(RAD51):c.773A>C (p.Glu258Ala)
|
|
|
|
NM_002878.4(RAD51D):c.33C>T (p.Gly11=)
|
rs760444811
|
|
|
NM_002878.4(RAD51D):c.480+1G>A
|
rs1597862471
|
|
|
NM_002878.4(RAD51D):c.576+6C>G
|
rs2142428719
|
|
|
NM_002878.4(RAD51D):c.738+402_*1465del
|
|
|
|
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter)
|
rs137886232
|
|
|
NM_002878.4(RAD51D):c.768C>G (p.Asp256Glu)
|
rs569428131
|
|
|
NM_002878.4(RAD51D):c.790_796dup (p.Arg266fs)
|
rs2142411968
|
|
|
NM_002907.4(RECQL):c.623A>G (p.Tyr208Cys)
|
rs2137374083
|
|
|
NM_003072.5(SMARCA4):c.1943+4A>G
|
|
|
|
NM_003488.4(AKAP1):c.946GGCTTGGATAGAAATGAGGAG[1] (p.316GLDRNEE[1])
|
rs746089021
|
|
|
NM_003579.4(RAD54L):c.1250C>T (p.Thr417Ile)
|
|
|
|
NM_003579.4(RAD54L):c.1298del (p.Pro433fs)
|
|
|
|
NM_003579.4(RAD54L):c.1328G>C (p.Ser443Thr)
|
|
|
|
NM_003579.4(RAD54L):c.1559C>T (p.Ser520Leu)
|
|
|
|
NM_003579.4(RAD54L):c.1641G>C (p.Met547Ile)
|
|
|
|
NM_003579.4(RAD54L):c.1769T>C (p.Met590Thr)
|
|
|
|
NM_003579.4(RAD54L):c.214G>C (p.Ala72Pro)
|
|
|
|
NM_003579.4(RAD54L):c.2209C>T (p.Gln737Ter)
|
|
|
|
NM_003579.4(RAD54L):c.863del (p.Gly288fs)
|
rs1660118680
|
|
|
NM_003620.4(PPM1D):c.1204_1208del (p.Asn402fs)
|
|
|
|
NM_003620.4(PPM1D):c.1267G>T (p.Glu423Ter)
|
rs1057524700
|
|
|
NM_003620.4(PPM1D):c.1423del (p.Glu475fs)
|
rs1271133647
|
|
|
NM_003620.4(PPM1D):c.1535del (p.Asn512fs)
|
rs763475304
|
|
|
NM_003620.4(PPM1D):c.1640T>A (p.Met547Lys)
|
rs2031565605
|
|
|
NM_003738.5(PTCH2):c.2315dup (p.Pro773fs)
|
|
|
|
NM_003738.5(PTCH2):c.3584C>T (p.Ser1195Phe)
|
|
|
|
NM_003902.5(FUBP1):c.1611G>A (p.Trp537Ter)
|
rs869025239
|
|
|
NM_003981.3(PRC1):c.1351-124_1351-123insoAC068831.17:g.63209_63266
|
|
|
|
NM_004168.3:g.(?_218403)_(256583_?)del
|
|
|
|
NM_004360.5(CDH1):c.1003C>G (p.Arg335Gly)
|
rs587780784
|
|
|
NM_004360.5(CDH1):c.1008+4A>G
|
|
|
|
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs)
|
rs786201045
|
|
|
NM_004360.5(CDH1):c.1013T>G (p.Phe338Cys)
|
rs1060501219
|
|
|
NM_004360.5(CDH1):c.1015C>G (p.Pro339Ala)
|
rs1555515709
|
|
|
NM_004360.5(CDH1):c.1024A>G (p.Thr342Ala)
|
|
|
|
NM_004360.5(CDH1):c.1062del (p.Gly354_Leu355insTer)
|
|
|
|
NM_004360.5(CDH1):c.1073C>G (p.Thr358Arg)
|
rs1191901557
|
|
|
NM_004360.5(CDH1):c.107G>A (p.Ser36Asn)
|
rs1064794682
|
|
|
NM_004360.5(CDH1):c.1096A>G (p.Thr366Ala)
|
rs1060501238
|
|
|
NM_004360.5(CDH1):c.1097C>G (p.Thr366Ser)
|
rs876660260
|
|
|
NM_004360.5(CDH1):c.1103C>G (p.Thr368Ser)
|
rs367868307
|
|
|
NM_004360.5(CDH1):c.1106A>G (p.Asn369Ser)
|
rs1960858920
|
|
|
NM_004360.5(CDH1):c.1107del (p.Asn369fs)
|
rs1567507138
|
|
|
NM_004360.5(CDH1):c.1112A>G (p.Asn371Ser)
|
rs1555515754
|
|
|
NM_004360.5(CDH1):c.112A>C (p.Thr38Pro)
|
rs786203442
|
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
|
NM_004360.5(CDH1):c.1145del (p.Gly382fs)
|
rs1555515863
|
|
|
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter)
|
rs587782798
|
|
|
NM_004360.5(CDH1):c.1158G>T (p.Glu386Asp)
|
rs2152133333
|
|
|
NM_004360.5(CDH1):c.1169A>G (p.Asn390Ser)
|
rs964044070
|
|
|
NM_004360.5(CDH1):c.1170C>T (p.Asn390=)
|
rs766505270
|
|
|
NM_004360.5(CDH1):c.1170CGT[1] (p.Val392del)
|
rs1555515872
|
|
|
NM_004360.5(CDH1):c.1183A>G (p.Thr395Ala)
|
rs201135424
|
|
|
NM_004360.5(CDH1):c.1192G>A (p.Val398Met)
|
rs2152133395
|
|
|
NM_004360.5(CDH1):c.1202C>T (p.Ala401Val)
|
rs150795245
|
|
|
NM_004360.5(CDH1):c.1215del (p.Asn405fs)
|
rs2152133449
|
|
|
NM_004360.5(CDH1):c.1234G>A (p.Val412Ile)
|
rs587782189
|
|
|
NM_004360.5(CDH1):c.1237T>C (p.Tyr413His)
|
|
|
|
NM_004360.5(CDH1):c.1257TGG[1] (p.Gly421del)
|
rs775730054
|
|
|
NM_004360.5(CDH1):c.1269del (p.Phe423fs)
|
|
|
|
NM_004360.5(CDH1):c.1273G>C (p.Val425Leu)
|
rs570930882
|
|
|
NM_004360.5(CDH1):c.1296C>G (p.Asn432Lys)
|
rs187862045
|
|
|
NM_004360.5(CDH1):c.1303A>G (p.Ile435Val)
|
rs864622644
|
|
|
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs)
|
rs886039612
|
|
|
NM_004360.5(CDH1):c.1367del (p.Val456fs)
|
|
|
|
NM_004360.5(CDH1):c.137T>C (p.Leu46Pro)
|
rs1555509778
|
|
|
NM_004360.5(CDH1):c.1385T>C (p.Phe462Ser)
|
rs587782622
|
|
|
NM_004360.5(CDH1):c.1437T>C (p.Asp479=)
|
rs2152134915
|
|
|
NM_004360.5(CDH1):c.1438G>A (p.Val480Met)
|
rs786202675
|
|
|
NM_004360.5(CDH1):c.1474A>G (p.Arg492Gly)
|
rs2152134985
|
|
|
NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs)
|
rs876658261
|
|
|
NM_004360.5(CDH1):c.1489G>A (p.Glu497Lys)
|
rs1567508990
|
|
|
NM_004360.5(CDH1):c.1492G>A (p.Asp498Asn)
|
rs2152135021
|
|
|
NM_004360.5(CDH1):c.149G>T (p.Arg50Leu)
|
|
|
|
NM_004360.5(CDH1):c.1509G>C (p.Gln503His)
|
rs876659548
|
|
|
NM_004360.5(CDH1):c.1514T>C (p.Ile505Thr)
|
rs1597898186
|
|
|
NM_004360.5(CDH1):c.1526C>T (p.Thr509Ile)
|
rs771551231
|
|
|
NM_004360.5(CDH1):c.1538C>G (p.Pro513Arg)
|
|
|
|
NM_004360.5(CDH1):c.1550T>A (p.Met517Lys)
|
rs786203656
|
|
|
NM_004360.5(CDH1):c.1565+1G>A
|
rs587780113
|
|
|
NM_004360.5(CDH1):c.1565+1G>T
|
rs587780113
|
|
|
NM_004360.5(CDH1):c.1565+2dup
|
rs1555516200
|
|
|
NM_004360.5(CDH1):c.1570C>T (p.Arg524Trp)
|
rs373605261
|
|
|
NM_004360.5(CDH1):c.1585A>G (p.Thr529Ala)
|
rs776890776
|
|
|
NM_004360.5(CDH1):c.1590dup (p.Asn531fs)
|
rs1555516535
|
|
|
NM_004360.5(CDH1):c.1634G>A (p.Arg545Gln)
|
rs587780115
|
|
|
NM_004360.5(CDH1):c.164-32A>G
|
|
|
|
NM_004360.5(CDH1):c.1649G>A (p.Arg550Lys)
|
rs771649648
|
|
|
NM_004360.5(CDH1):c.1665C>T (p.His555=)
|
rs559270110
|
|
|
NM_004360.5(CDH1):c.1666G>C (p.Val556Leu)
|
rs876660399
|
|
|
NM_004360.5(CDH1):c.1675A>C (p.Ser559Arg)
|
|
|
|
NM_004360.5(CDH1):c.1676G>A (p.Ser559Asn)
|
rs1596960625
|
|
|
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg)
|
rs746481984
|
|
|
NM_004360.5(CDH1):c.1693A>G (p.Ile565Val)
|
rs1961080115
|
|
|
NM_004360.5(CDH1):c.1700C>T (p.Ala567Val)
|
rs886041160
|
|
|
NM_004360.5(CDH1):c.1707C>A (p.Asp569Glu)
|
rs876660905
|
|
|
NM_004360.5(CDH1):c.1710T>A (p.Asn570Lys)
|
|
|
|
NM_004360.5(CDH1):c.1711+2_1711+5dup
|
|
|
|
NM_004360.5(CDH1):c.1711+5G>A
|
rs1131690818
|
|
|
NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser)
|
rs786202290
|
|
|
NM_004360.5(CDH1):c.1712-8T>C
|
rs1060504172
|
|
|
NM_004360.5(CDH1):c.1726A>T (p.Thr576Ser)
|
rs759536558
|
|
|
NM_004360.5(CDH1):c.172G>T (p.Glu58Ter)
|
|
|
|
NM_004360.5(CDH1):c.1732A>G (p.Thr578Ala)
|
rs1596963360
|
|
|
NM_004360.5(CDH1):c.1741C>T (p.Leu581Phe)
|
rs1567512154
|
|
|
NM_004360.5(CDH1):c.1745T>G (p.Leu582Arg)
|
|
|
|
NM_004360.5(CDH1):c.1766A>G (p.Asn589Ser)
|
rs1367108095
|
|
|
NM_004360.5(CDH1):c.1772A>G (p.Asn591Ser)
|
rs1555516835
|
|
|
NM_004360.5(CDH1):c.1774G>T (p.Ala592Ser)
|
rs35187787
|
|
|
NM_004360.5(CDH1):c.1784C>G (p.Pro595Arg)
|
rs1555516843
|
|
|
NM_004360.5(CDH1):c.1789C>A (p.Pro597Thr)
|
rs201625049
|
|
|
NM_004360.5(CDH1):c.178T>C (p.Cys60Arg)
|
|
|
|
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter)
|
rs121964877
|
|
|
NM_004360.5(CDH1):c.1819C>T (p.Pro607Ser)
|
|
|
|
NM_004360.5(CDH1):c.1832T>A (p.Val611Asp)
|
rs779351070
|
|
|
NM_004360.5(CDH1):c.1864A>T (p.Asn622Tyr)
|
rs367849039
|
|
|
NM_004360.5(CDH1):c.1868C>T (p.Thr623Ile)
|
rs1961165592
|
|
|
NM_004360.5(CDH1):c.1876T>G (p.Phe626Val)
|
rs876660603
|
|
|
NM_004360.5(CDH1):c.188G>T (p.Arg63Leu)
|
|
|
|
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)
|
rs121964878
|
|
|
NM_004360.5(CDH1):c.1914G>A (p.Trp638Ter)
|
rs1961170989
|
|
|
NM_004360.5(CDH1):c.1949T>C (p.Ile650Thr)
|
rs747235838
|
|
|
NM_004360.5(CDH1):c.1960C>A (p.Pro654Thr)
|
rs2152139271
|
|
|
NM_004360.5(CDH1):c.1979T>A (p.Val660Glu)
|
rs1555517090
|
|
|
NM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer)
|
rs730881653
|
|
|
NM_004360.5(CDH1):c.1991A>G (p.Lys664Arg)
|
rs1436479908
|
|
|
NM_004360.5(CDH1):c.1999del (p.Leu667fs)
|
rs786202033
|
|
|
NM_004360.5(CDH1):c.200C>G (p.Ala67Gly)
|
rs730881660
|
|
|
NM_004360.5(CDH1):c.202T>G (p.Tyr68Asp)
|
rs1060501218
|
|
|
NM_004360.5(CDH1):c.2038A>C (p.Thr680Pro)
|
|
|
|
NM_004360.5(CDH1):c.2047G>A (p.Val683Ile)
|
|
|
|
NM_004360.5(CDH1):c.2052C>A (p.Ser684Arg)
|
rs764379691
|
|
|
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)
|
rs587781276
|
|
|
NM_004360.5(CDH1):c.2080G>A (p.Val694Ile)
|
rs587780118
|
|
|
NM_004360.5(CDH1):c.208T>C (p.Ser70Pro)
|
rs587781862
|
|
|
NM_004360.5(CDH1):c.2117A>G (p.Gln706Arg)
|
rs587781401
|
|
|
NM_004360.5(CDH1):c.2135G>C (p.Gly712Ala)
|
|
|
|
NM_004360.5(CDH1):c.2137_2146dup (p.Gly716fs)
|
rs2152139643
|
|
|
NM_004360.5(CDH1):c.2152C>G (p.Leu718Val)
|
rs876658591
|
|
|
NM_004360.5(CDH1):c.2165-12C>G
|
rs760834250
|
|
|
NM_004360.5(CDH1):c.2165-1G>C
|
rs1385720097
|
|
|
NM_004360.5(CDH1):c.2165T>C (p.Ile722Thr)
|
rs878854682
|
|
|
NM_004360.5(CDH1):c.2168T>A (p.Leu723Gln)
|
|
|
|
NM_004360.5(CDH1):c.2170A>T (p.Ile724Phe)
|
|
|
|
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)
|
rs876658932
|
|
|
NM_004360.5(CDH1):c.2218C>T (p.Pro740Ser)
|
rs773795943
|
|
|
NM_004360.5(CDH1):c.2227C>T (p.Pro743Ser)
|
rs786203005
|
|
|
NM_004360.5(CDH1):c.2243C>A (p.Thr748Asn)
|
rs1555517660
|
|
|
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp)
|
rs776975632
|
|
|
NM_004360.5(CDH1):c.2252A>G (p.Asn751Ser)
|
|
|
|
NM_004360.5(CDH1):c.2270AAG[1] (p.Glu758del)
|
rs876661070
|
|
|
NM_004360.5(CDH1):c.2275G>T (p.Gly759Ter)
|
|
|
|
NM_004360.5(CDH1):c.2282_2284del (p.Gly761del)
|
rs878854683
|
|
|
NM_004360.5(CDH1):c.2284G>A (p.Glu762Lys)
|
|
|
|
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)
|
rs587780787
|
|
|
NM_004360.5(CDH1):c.2292C>A (p.Asp764Glu)
|
rs61747636
|
|
|
NM_004360.5(CDH1):c.2296-17A>G
|
rs2152142185
|
|
|
NM_004360.5(CDH1):c.2323G>A (p.Gly775Ser)
|
rs1163417116
|
|
|
NM_004360.5(CDH1):c.2331C>G (p.Asp777Glu)
|
rs114265540
|
|
|
NM_004360.5(CDH1):c.2333C>T (p.Ala778Val)
|
rs876659951
|
|
|
NM_004360.5(CDH1):c.2352T>C (p.Arg784=)
|
rs768796172
|
|
|
NM_004360.5(CDH1):c.2356G>A (p.Asp786Asn)
|
rs876659218
|
|
|
NM_004360.5(CDH1):c.2369C>A (p.Thr790Asn)
|
rs587780120
|
|
|
NM_004360.5(CDH1):c.236C>G (p.Thr79Arg)
|
rs876658359
|
|
|
NM_004360.5(CDH1):c.2386del (p.Arg796fs)
|
rs1375617541
|
|
|
NM_004360.5(CDH1):c.2386dup (p.Arg796fs)
|
rs1375617541
|
|
|
NM_004360.5(CDH1):c.2396C>G (p.Pro799Arg)
|
rs587781335
|
|
|
NM_004360.5(CDH1):c.2399G>T (p.Arg800Leu)
|
rs370345996
|
|
|
NM_004360.5(CDH1):c.2401C>G (p.Pro801Ala)
|
rs876660704
|
|
|
NM_004360.5(CDH1):c.2405C>G (p.Ala802Gly)
|
rs1596972797
|
|
|
NM_004360.5(CDH1):c.2423G>A (p.Gly808Glu)
|
|
|
|
NM_004360.5(CDH1):c.2430del (p.Phe810fs)
|
rs786203752
|
|
|
NM_004360.5(CDH1):c.2435A>G (p.Asp812Gly)
|
rs878854684
|
|
|
NM_004360.5(CDH1):c.2439+2T>C
|
|
|
|
NM_004360.5(CDH1):c.2440-2_*1del
|
rs2152143824
|
|
|
NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter)
|
rs1555518211
|
|
|
NM_004360.5(CDH1):c.2466del (p.Thr823fs)
|
|
|
|
NM_004360.5(CDH1):c.2467A>G (p.Thr823Ala)
|
rs878854686
|
|
|
NM_004360.5(CDH1):c.2468C>T (p.Thr823Ile)
|
rs1961533891
|
|
|
NM_004360.5(CDH1):c.2471C>T (p.Ala824Val)
|
rs1450920019
|
|
|
NM_004360.5(CDH1):c.2495T>C (p.Val832Ala)
|
|
|
|
NM_004360.5(CDH1):c.2498T>C (p.Phe833Ser)
|
|
|
|
NM_004360.5(CDH1):c.2519C>T (p.Ser840Phe)
|
rs587781300
|
|
|
NM_004360.5(CDH1):c.2563A>G (p.Lys855Glu)
|
|
|
|
NM_004360.5(CDH1):c.2574C>G (p.Asp858Glu)
|
rs1060501245
|
|
|
NM_004360.5(CDH1):c.2584T>G (p.Leu862Val)
|
rs2152144131
|
|
|
NM_004360.5(CDH1):c.2593T>C (p.Trp865Arg)
|
rs1555518267
|
|
|
NM_004360.5(CDH1):c.2602C>T (p.Arg868Cys)
|
rs864622630
|
|
|
NM_004360.5(CDH1):c.2624T>G (p.Met875Arg)
|
rs900118000
|
|
|
NM_004360.5(CDH1):c.2647T>C (p.Ter883Gln)
|
rs932491569
|
|
|
NM_004360.5(CDH1):c.268C>T (p.Arg90Trp)
|
rs730881661
|
|
|
NM_004360.5(CDH1):c.26C>A (p.Ser9Ter)
|
rs1555509646
|
|
|
NM_004360.5(CDH1):c.2T>C (p.Met1Thr)
|
rs1555509623
|
|
|
NM_004360.5(CDH1):c.304G>T (p.Ala102Ser)
|
rs368492235
|
|
|
NM_004360.5(CDH1):c.313T>A (p.Ser105Thr)
|
rs1165815510
|
|
|
NM_004360.5(CDH1):c.321C>G (p.Tyr107Ter)
|
rs765929630
|
|
|
NM_004360.5(CDH1):c.382del (p.His128fs)
|
rs1555514492
|
|
|
NM_004360.5(CDH1):c.385C>T (p.Gln129Ter)
|
|
|
|
NM_004360.5(CDH1):c.387+2T>C
|
rs903144020
|
|
|
NM_004360.5(CDH1):c.38T>C (p.Leu13Pro)
|
|
|
|
NM_004360.5(CDH1):c.413A>G (p.Glu138Gly)
|
rs864622284
|
|
|
NM_004360.5(CDH1):c.451del (p.Arg151fs)
|
rs2152129697
|
|
|
NM_004360.5(CDH1):c.458A>G (p.Lys153Arg)
|
|
|
|
NM_004360.5(CDH1):c.488G>C (p.Cys163Ser)
|
rs748783182
|
|
|
NM_004360.5(CDH1):c.49-2A>G
|
rs1060501226
|
|
|
NM_004360.5(CDH1):c.49-3C>A
|
rs587782366
|
|
|
NM_004360.5(CDH1):c.504del (p.Gly169fs)
|
rs864622655
|
|
|
NM_004360.5(CDH1):c.524_525delinsAT (p.Leu175His)
|
|
|
|
NM_004360.5(CDH1):c.532-1G>C
|
rs771085839
|
|
|
NM_004360.5(CDH1):c.56C>G (p.Ser19Cys)
|
rs1221633501
|
|
|
NM_004360.5(CDH1):c.570C>G (p.Tyr190Ter)
|
|
|
|
NM_004360.5(CDH1):c.578del (p.Thr193fs)
|
|
|
|
NM_004360.5(CDH1):c.583C>T (p.Gln195Ter)
|
rs1960737851
|
|
|
NM_004360.5(CDH1):c.585A>C (p.Gln195His)
|
rs1555515262
|
|
|
NM_004360.5(CDH1):c.601C>A (p.Pro201Thr)
|
|
|
|
NM_004360.5(CDH1):c.611T>C (p.Val204Ala)
|
rs754581268
|
|
|
NM_004360.5(CDH1):c.61C>T (p.Leu21Phe)
|
rs863224729
|
|
|
NM_004360.5(CDH1):c.628_629del (p.Glu210fs)
|
|
|
|
NM_004360.5(CDH1):c.650C>T (p.Thr217Ile)
|
rs778382252
|
|
|
NM_004360.5(CDH1):c.684C>G (p.Tyr228Ter)
|
rs1960744183
|
|
|
NM_004360.5(CDH1):c.700G>A (p.Ala234Thr)
|
rs878854694
|
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
|
NM_004360.5(CDH1):c.754dup (p.Val252fs)
|
rs2152131075
|
|
|
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter)
|
rs121964873
|
|
|
NM_004360.5(CDH1):c.811G>A (p.Val271Ile)
|
|
|
|
NM_004360.5(CDH1):c.826C>G (p.Leu276Val)
|
rs750911401
|
|
|
NM_004360.5(CDH1):c.832+1G>A
|
rs878854697
|
|
|
NM_004360.5(CDH1):c.832+9A>G
|
rs1057521268
|
|
|
NM_004360.5(CDH1):c.833-2A>G
|
rs1555515596
|
|
|
NM_004360.5(CDH1):c.847G>C (p.Glu283Gln)
|
|
|
|
NM_004360.5(CDH1):c.865G>A (p.Ala289Thr)
|
rs1255556757
|
|
|
NM_004360.5(CDH1):c.871G>A (p.Asp291Asn)
|
rs876660645
|
|
|
NM_004360.5(CDH1):c.883A>G (p.Thr295Ala)
|
rs1555515611
|
|
|
NM_004360.5(CDH1):c.884C>G (p.Thr295Ser)
|
|
|
|
NM_004360.5(CDH1):c.900C>G (p.Ile300Met)
|
rs775452740
|
|
|
NM_004360.5(CDH1):c.92G>A (p.Gly31Asp)
|
rs1131690823
|
|
|
NM_004360.5(CDH1):c.940A>T (p.Lys314Ter)
|
rs1131690820
|
|
|
NM_004360.5(CDH1):c.94T>A (p.Phe32Ile)
|
|
|
|
NM_004360.5(CDH1):c.952A>T (p.Thr318Ser)
|
|
|
|
NM_004360.5(CDH1):c.970G>A (p.Gly324Arg)
|
|
|
|
NM_004360.5(CDH1):c.981T>G (p.Ser327Arg)
|
rs1567506772
|
|
|
NM_004360.5(CDH1):c.982G>A (p.Val328Met)
|
rs754228872
|
|
|
NM_004360.5(CDH1):c.995G>T (p.Gly332Val)
|
rs1597894308
|
|
|
NM_004448.4(ERBB2):c.2494-3C>T
|
rs104886007
|
|
|
NM_004448.4(ERBB2):c.2520G>A (p.Arg840=)
|
rs104886011
|
|
|
NM_004448.4(ERBB2):c.2535C>T (p.Asp845=)
|
rs137852788
|
|
|
NM_004448.4(ERBB2):c.2568C>T (p.Pro856=)
|
rs104886009
|
|
|
NM_004448.4(ERBB2):c.3146G>A (p.Ser1049Asn)
|
rs104886025
|
|
|
NM_004491.5(ARHGAP35):c.1959_1960delinsAA (p.Pro654Thr)
|
rs869312173
|
|
|
NM_004616.3(TSPAN8):c.528T>A (p.Asp176Glu)
|
rs869025229
|
|
|
NM_004744.5(LRAT):c.78T>A (p.Ser26Arg)
|
rs869025235
|
|
|
NM_004936.4(CDKN2B):c.*1346dup
|
|
|
|
NM_004936.4(CDKN2B):c.*2763G>T
|
|
|
|
NM_004936.4(CDKN2B):c.*845_*846insCA
|
|
|
|
NM_004936.4(CDKN2B):c.*845_*846insCACA
|
|
|
|
NM_004985.5(KRAS):c.112-9C>T
|
rs727504298
|
|
|
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)
|
rs121913529
|
|
|
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)
|
rs1951383854
|
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
|
NM_004996.4(ABCC1):c.1913-609G>A
|
rs11866794
|
|
|
NM_004996.4(ABCC1):c.1988+310C>T
|
rs4148351
|
|
|
NM_004996.4(ABCC1):c.2461-1175C>G
|
rs3851711
|
|
|
NM_005359.6(SMAD4):c.1139+12A>G
|
rs2144448157
|
|
|
NM_005431.2(XRCC2):c.347_350del (p.Phe116fs)
|
rs764640893
|
|
|
NM_005431.2(XRCC2):c.96del (p.Phe32fs)
|
rs730882048
|
|
|
NM_005432.4(XRCC3):c.1012C>T (p.Arg338Ter)
|
|
|
|
NM_005591.4(MRE11):c.1100_1131del (p.Val367fs)
|
rs1946499901
|
|
|
NM_005591.4(MRE11):c.901C>G (p.Leu301Val)
|
rs863225441
|
|
|
NM_005732.4(RAD50):c.102G>A (p.Leu34=)
|
rs876659395
|
|
|
NM_005732.4(RAD50):c.1090A>G (p.Ile364Val)
|
rs1750641668
|
|
|
NM_005732.4(RAD50):c.1289A>T (p.Asp430Val)
|
rs557802139
|
|
|
NM_005732.4(RAD50):c.129+2T>C
|
|
|
|
NM_005732.4(RAD50):c.136A>G (p.Ile46Val)
|
|
|
|
NM_005732.4(RAD50):c.1928A>T (p.Asp643Val)
|
rs1750764737
|
|
|
NM_005732.4(RAD50):c.1969+2dup
|
|
|
|
NM_005732.4(RAD50):c.2221G>C (p.Asp741His)
|
|
|
|
NM_005732.4(RAD50):c.3035A>G (p.Lys1012Arg)
|
rs369638979
|
|
|
NM_005732.4(RAD50):c.3049T>C (p.Trp1017Arg)
|
rs878997089
|
|
|
NM_005732.4(RAD50):c.3195C>T (p.Asp1065=)
|
rs786201980
|
|
|
NM_005732.4(RAD50):c.326_329del (p.Thr109fs)
|
rs587780155
|
|
|
NM_005732.4(RAD50):c.3488T>C (p.Ile1163Thr)
|
rs759753449
|
|
|
NM_005732.4(RAD50):c.3890C>T (p.Ser1297Leu)
|
|
|
|
NM_005732.4(RAD50):c.398G>T (p.Cys133Phe)
|
rs786201788
|
|
|
NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter)
|
rs1561635887
|
|
|
NM_005732.4(RAD50):c.587G>A (p.Arg196His)
|
rs764784659
|
|
|
NM_005732.4(RAD50):c.656A>G (p.Lys219Arg)
|
|
|
|
NM_005732.4(RAD50):c.670C>T (p.Arg224Cys)
|
rs753136372
|
|
|
NM_006183.5(NTS):c.185G>A (p.Cys62Tyr)
|
rs869025243
|
|
|
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)
|
rs121913284
|
|
|
NM_006218.4(PIK3CA):c.1571G>A (p.Arg524Lys)
|
rs104885999
|
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
|
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)
|
rs121913286
|
|
|
NM_006218.4(PIK3CA):c.1664+18G>A
|
rs104886001
|
|
|
NM_006218.4(PIK3CA):c.1664G>A (p.Arg555Lys)
|
rs104886000
|
|
|
NM_006218.4(PIK3CA):c.1769G>A (p.Trp590Ter)
|
rs104886021
|
|
|
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)
|
rs121913281
|
|
|
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
|
rs121913279
|
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
|
NM_006218.4(PIK3CA):c.407dup (p.Gln137fs)
|
rs1560137609
|
|
|
NM_006231.4(POLE):c.1A>G (p.Met1Val)
|
rs878854847
|
|
|
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser)
|
rs5744800
|
|
|
NM_006231.4(POLE):c.4552-10G>T
|
rs5744946
|
|
|
NM_006231.4(POLE):c.6028T>C (p.Cys2010Arg)
|
rs1593709200
|
|
|
NM_006231.4(POLE):c.605C>T (p.Thr202Ile)
|
rs1432402314
|
|
|
NM_006269.2(RP1):c.5001del (p.Arg1668fs)
|
rs869320622
|
|
|
NM_006311.4(NCOR1):c.4707del (p.Pro1570fs)
|
rs869025295
|
|
|
NM_006368.5(CREB3):c.823T>G (p.Tyr275Asp)
|
rs869025236
|
|
|
NM_007194.3(CHEK2):c.(?_-1)_(*1_?)dup
|
|
|
|
NM_007194.3(CHEK2):c.1462-?_1542+?del
|
|
|
|
NM_007194.3(CHEK2):c.320-?_*154+?dup
|
|
|
|
NM_007194.3(CHEK2):c.320-?_592+?dup273
|
|
|
|
NM_007194.3(CHEK2):c.593-?_*154dup1194
|
|
|
|
NM_007194.3(CHEK2):c.684-?_*154+?dup
|
|
|
|
NM_007194.3(CHEK2):c.909-?_1095+?del
|
|
|
|
NM_007194.3(CHEK2):c.909delG
|
rs1057517596
|
|
|
NM_007194.4(CHEK2):c.-6-2A>G
|
rs1555932985
|
|
|
NM_007194.4(CHEK2):c.-6-45_36del
|
|
|
|
NM_007194.4(CHEK2):c.-6-4T>C
|
|
|
|
NM_007194.4(CHEK2):c.-6-5_6del
|
|
|
|
NM_007194.4(CHEK2):c.-6_2delinsA (p.Met1fs)
|
|
|
|
NM_007194.4(CHEK2):c.-7+4A>G
|
rs1601377191
|
|
|
NM_007194.4(CHEK2):c.1000G>A (p.Ala334Thr)
|
rs864622371
|
|
|
NM_007194.4(CHEK2):c.1000G>C (p.Ala334Pro)
|
rs864622371
|
|
|
NM_007194.4(CHEK2):c.1001C>A (p.Ala334Asp)
|
rs1555915316
|
|
|
NM_007194.4(CHEK2):c.1001C>T (p.Ala334Val)
|
|
|
|
NM_007194.4(CHEK2):c.1002T>C (p.Ala334=)
|
rs1601738112
|
|
|
NM_007194.4(CHEK2):c.1002T>G (p.Ala334=)
|
rs1601738112
|
|
|
NM_007194.4(CHEK2):c.1003G>A (p.Val335Met)
|
rs563752762
|
|
|
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu)
|
rs563752762
|
|
|
NM_007194.4(CHEK2):c.1003G>T (p.Val335Leu)
|
rs563752762
|
|
|
NM_007194.4(CHEK2):c.1005G>A (p.Val335=)
|
|
|
|
NM_007194.4(CHEK2):c.1006C>T (p.Gln336Ter)
|
rs2145841361
|
|
|
NM_007194.4(CHEK2):c.1007A>C (p.Gln336Pro)
|
rs1300388084
|
|
|
NM_007194.4(CHEK2):c.1007A>G (p.Gln336Arg)
|
rs1300388084
|
|
|
NM_007194.4(CHEK2):c.1007del (p.Gln336fs)
|
rs1569120831
|
|
|
NM_007194.4(CHEK2):c.1008+10G>A
|
|
|
|
NM_007194.4(CHEK2):c.1008+14T>A
|
rs2145840964
|
|
|
NM_007194.4(CHEK2):c.1008+14T>C
|
|
|
|
NM_007194.4(CHEK2):c.1008+15C>G
|
rs1555915284
|
|
|
NM_007194.4(CHEK2):c.1008+16A>C
|
|
|
|
NM_007194.4(CHEK2):c.1008+16A>G
|
|
|
|
NM_007194.4(CHEK2):c.1008+16A>T
|
rs2145840930
|
|
|
NM_007194.4(CHEK2):c.1008+17A>C
|
|
|
|
NM_007194.4(CHEK2):c.1008+17A>G
|
rs1190548447
|
|
|
NM_007194.4(CHEK2):c.1008+1G>A
|
rs1555915298
|
|
|
NM_007194.4(CHEK2):c.1008+1G>C
|
rs1555915298
|
|
|
NM_007194.4(CHEK2):c.1008+1G>T
|
rs1555915298
|
|
|
NM_007194.4(CHEK2):c.1008+20C>A
|
|
|
|
NM_007194.4(CHEK2):c.1008+2T>G
|
rs1555915295
|
|
|
NM_007194.4(CHEK2):c.1008+3dup
|
rs2145841181
|
|
|
NM_007194.4(CHEK2):c.1008+4A>G
|
rs2052755619
|
|
|
NM_007194.4(CHEK2):c.1008+7G>A
|
rs1365428441
|
|
|
NM_007194.4(CHEK2):c.1009-100_1095+3del
|
rs2145815434
|
|
|
NM_007194.4(CHEK2):c.1009-10T>G
|
rs1569116466
|
|
|
NM_007194.4(CHEK2):c.1009-1264C>G
|
|
|
|
NM_007194.4(CHEK2):c.1009-13C>G
|
rs2145818637
|
|
|
NM_007194.4(CHEK2):c.1009-13_1009-6del
|
rs2052616228
|
|
|
NM_007194.4(CHEK2):c.1009-14G>A
|
|
|
|
NM_007194.4(CHEK2):c.1009-14G>C
|
rs1172442364
|
|
|
NM_007194.4(CHEK2):c.1009-16C>A
|
rs751749563
|
|
|
NM_007194.4(CHEK2):c.1009-17C>T
|
rs2145818725
|
|
|
NM_007194.4(CHEK2):c.1009-18G>A
|
rs757393834
|
|
|
NM_007194.4(CHEK2):c.1009-18G>C
|
|
|
|
NM_007194.4(CHEK2):c.1009-19T>A
|
rs2145818760
|
|
|
NM_007194.4(CHEK2):c.1009-1G>A
|
rs1555914382
|
|
|
NM_007194.4(CHEK2):c.1009-1G>T
|
|
|
|
NM_007194.4(CHEK2):c.1009-2A>C
|
rs766158073
|
|
|
NM_007194.4(CHEK2):c.1009-2A>G
|
rs766158073
|
|
|
NM_007194.4(CHEK2):c.1009-2A>T
|
rs766158073
|
|
|
NM_007194.4(CHEK2):c.1009-2_1011del
|
|
|
|
NM_007194.4(CHEK2):c.1009-3T>G
|
rs2145818421
|
|
|
NM_007194.4(CHEK2):c.1009-3del
|
rs1555914390
|
|
|
NM_007194.4(CHEK2):c.1009-5T>A
|
rs1555914393
|
|
|
NM_007194.4(CHEK2):c.1009-5T>C
|
|
|
|
NM_007194.4(CHEK2):c.1009-5T>G
|
|
|
|
NM_007194.4(CHEK2):c.1009-8C>T
|
|
|
|
NM_007194.4(CHEK2):c.1009T>C (p.Tyr337His)
|
rs2052615357
|
|
|
NM_007194.4(CHEK2):c.1009T>G (p.Tyr337Asp)
|
|
|
|
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter)
|
rs1231012263
|
|
|
NM_007194.4(CHEK2):c.100_101del (p.Gln34fs)
|
rs2054330803
|
|
|
NM_007194.4(CHEK2):c.1010A>G (p.Tyr337Cys)
|
rs1555914376
|
|
|
NM_007194.4(CHEK2):c.1012C>G (p.Leu338Val)
|
rs587782441
|
|
|
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe)
|
rs587782441
|
|
|
NM_007194.4(CHEK2):c.1013T>G (p.Leu338Arg)
|
rs374660293
|
|
|
NM_007194.4(CHEK2):c.1014_1015delinsGT (p.His339Tyr)
|
|
|
|
NM_007194.4(CHEK2):c.1014_1036dup (p.Arg346fs)
|
rs2145817523
|
|
|
NM_007194.4(CHEK2):c.1015C>A (p.His339Asn)
|
rs371207635
|
|
|
NM_007194.4(CHEK2):c.1015C>T (p.His339Tyr)
|
rs371207635
|
|
|
NM_007194.4(CHEK2):c.1016A>C (p.His339Pro)
|
rs1555914365
|
|
|
NM_007194.4(CHEK2):c.1016A>G (p.His339Arg)
|
rs1555914365
|
|
|
NM_007194.4(CHEK2):c.1016A>T (p.His339Leu)
|
rs1555914365
|
|
|
NM_007194.4(CHEK2):c.1017T>G (p.His339Gln)
|
rs2052614326
|
|
|
NM_007194.4(CHEK2):c.1018G>T (p.Glu340Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1019_1034del (p.Glu340fs)
|
rs1601727263
|
|
|
NM_007194.4(CHEK2):c.101A>G (p.Gln34Arg)
|
rs2146152117
|
|
|
NM_007194.4(CHEK2):c.1021A>C (p.Asn341His)
|
rs2145817987
|
|
|
NM_007194.4(CHEK2):c.1021A>G (p.Asn341Asp)
|
rs2145817987
|
|
|
NM_007194.4(CHEK2):c.1022A>G (p.Asn341Ser)
|
rs773846607
|
|
|
NM_007194.4(CHEK2):c.1022del (p.Asn341fs)
|
rs1569116316
|
|
|
NM_007194.4(CHEK2):c.1024_1032dup (p.Ile344_His345insGlyIleIle)
|
|
|
|
NM_007194.4(CHEK2):c.1025G>A (p.Gly342Asp)
|
rs1555914358
|
|
|
NM_007194.4(CHEK2):c.1025G>T (p.Gly342Val)
|
rs1555914358
|
|
|
NM_007194.4(CHEK2):c.1025del (p.Gly342fs)
|
|
|
|
NM_007194.4(CHEK2):c.1028T>C (p.Ile343Thr)
|
rs863224746
|
|
|
NM_007194.4(CHEK2):c.1028T>G (p.Ile343Ser)
|
rs863224746
|
|
|
NM_007194.4(CHEK2):c.1029T>G (p.Ile343Met)
|
rs2145817747
|
|
|
NM_007194.4(CHEK2):c.1030del (p.Ile344fs)
|
rs2145817725
|
|
|
NM_007194.4(CHEK2):c.1031T>C (p.Ile344Thr)
|
rs1569116223
|
|
|
NM_007194.4(CHEK2):c.1032A>C (p.Ile344=)
|
rs202051128
|
|
|
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr)
|
rs864622537
|
|
|
NM_007194.4(CHEK2):c.1034A>C (p.His345Pro)
|
rs1555914342
|
|
|
NM_007194.4(CHEK2):c.1034A>G (p.His345Arg)
|
rs1555914342
|
|
|
NM_007194.4(CHEK2):c.1034A>T (p.His345Leu)
|
rs1555914342
|
|
|
NM_007194.4(CHEK2):c.1035C>A (p.His345Gln)
|
rs756520206
|
|
|
NM_007194.4(CHEK2):c.1036C>A (p.Arg346Ser)
|
rs201206424
|
|
|
NM_007194.4(CHEK2):c.1036C>G (p.Arg346Gly)
|
rs201206424
|
|
|
NM_007194.4(CHEK2):c.1036del (p.Arg346fs)
|
|
|
|
NM_007194.4(CHEK2):c.1037G>C (p.Arg346Pro)
|
rs730881688
|
|
|
NM_007194.4(CHEK2):c.1038T>C (p.Arg346=)
|
rs1555914324
|
|
|
NM_007194.4(CHEK2):c.1039_1043del (p.Asp347fs)
|
|
|
|
NM_007194.4(CHEK2):c.1040A>G (p.Asp347Gly)
|
|
|
|
NM_007194.4(CHEK2):c.1041C>G (p.Asp347Glu)
|
|
|
|
NM_007194.4(CHEK2):c.1041C>T (p.Asp347=)
|
|
|
|
NM_007194.4(CHEK2):c.1041del (p.Asp347_Leu348insTer)
|
|
|
|
NM_007194.4(CHEK2):c.1043T>G (p.Leu348Ter)
|
rs878854908
|
|
|
NM_007194.4(CHEK2):c.1044A>T (p.Leu348Phe)
|
|
|
|
NM_007194.4(CHEK2):c.1045A>G (p.Lys349Glu)
|
rs730881689
|
|
|
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs)
|
rs2145817185
|
|
|
NM_007194.4(CHEK2):c.1048C>G (p.Pro350Ala)
|
rs876659406
|
|
|
NM_007194.4(CHEK2):c.1048C>T (p.Pro350Ser)
|
rs876659406
|
|
|
NM_007194.4(CHEK2):c.1048_1049insA (p.Pro350fs)
|
|
|
|
NM_007194.4(CHEK2):c.1049C>T (p.Pro350Leu)
|
|
|
|
NM_007194.4(CHEK2):c.1049del (p.Pro350fs)
|
rs1601727022
|
|
|
NM_007194.4(CHEK2):c.1049dup (p.Glu351fs)
|
|
|
|
NM_007194.4(CHEK2):c.104C>G (p.Ser35Cys)
|
rs786203185
|
|
|
NM_007194.4(CHEK2):c.104C>T (p.Ser35Phe)
|
rs786203185
|
|
|
NM_007194.4(CHEK2):c.1050A>G (p.Pro350=)
|
rs1555914312
|
|
|
NM_007194.4(CHEK2):c.1050del (p.Glu351fs)
|
rs2052610542
|
|
|
NM_007194.4(CHEK2):c.1051G>A (p.Glu351Lys)
|
rs1555914308
|
|
|
NM_007194.4(CHEK2):c.1051G>C (p.Glu351Gln)
|
rs1555914308
|
|
|
NM_007194.4(CHEK2):c.1052A>G (p.Glu351Gly)
|
rs786202893
|
|
|
NM_007194.4(CHEK2):c.1052del (p.Glu351fs)
|
|
|
|
NM_007194.4(CHEK2):c.1054A>C (p.Asn352His)
|
rs1361935182
|
|
|
NM_007194.4(CHEK2):c.1054A>T (p.Asn352Tyr)
|
rs1361935182
|
|
|
NM_007194.4(CHEK2):c.1055A>C (p.Asn352Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1055A>G (p.Asn352Ser)
|
rs764181318
|
|
|
NM_007194.4(CHEK2):c.1056T>A (p.Asn352Lys)
|
rs1060502709
|
|
|
NM_007194.4(CHEK2):c.1056T>G (p.Asn352Lys)
|
rs1060502709
|
|
|
NM_007194.4(CHEK2):c.1058T>A (p.Val353Asp)
|
rs758434121
|
|
|
NM_007194.4(CHEK2):c.1058T>C (p.Val353Ala)
|
rs758434121
|
|
|
NM_007194.4(CHEK2):c.1059T>C (p.Val353=)
|
rs2145816648
|
|
|
NM_007194.4(CHEK2):c.1059_1064del (p.Leu354_Leu355del)
|
|
|
|
NM_007194.4(CHEK2):c.105C>T (p.Ser35=)
|
rs1057521541
|
|
|
NM_007194.4(CHEK2):c.1061T>A (p.Leu354Ter)
|
rs2145816590
|
|
|
NM_007194.4(CHEK2):c.1061T>C (p.Leu354Ser)
|
|
|
|
NM_007194.4(CHEK2):c.1062A>C (p.Leu354Phe)
|
rs1427613188
|
|
|
NM_007194.4(CHEK2):c.1062A>G (p.Leu354=)
|
|
|
|
NM_007194.4(CHEK2):c.1063C>G (p.Leu355Val)
|
rs786201130
|
|
|
NM_007194.4(CHEK2):c.1063C>T (p.Leu355=)
|
rs786201130
|
|
|
NM_007194.4(CHEK2):c.1063del (p.Leu355fs)
|
rs1555914279
|
|
|
NM_007194.4(CHEK2):c.1064T>C (p.Leu355Pro)
|
rs2052608641
|
|
|
NM_007194.4(CHEK2):c.1065del (p.Ser356fs)
|
|
|
|
NM_007194.4(CHEK2):c.1066T>C (p.Ser356Pro)
|
rs2052608443
|
|
|
NM_007194.4(CHEK2):c.1067C>G (p.Ser356Ter)
|
rs121908703
|
|
|
NM_007194.4(CHEK2):c.1067_1077del (p.Leu355_Ser356insTer)
|
rs2145816053
|
|
|
NM_007194.4(CHEK2):c.1068A>T (p.Ser356=)
|
|
|
|
NM_007194.4(CHEK2):c.1069T>A (p.Ser357Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1069T>C (p.Ser357Pro)
|
rs2052608225
|
|
|
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter)
|
rs2146151890
|
|
|
NM_007194.4(CHEK2):c.1070C>G (p.Ser357Cys)
|
rs765425451
|
|
|
NM_007194.4(CHEK2):c.1070C>T (p.Ser357Phe)
|
rs765425451
|
|
|
NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter)
|
rs878854909
|
|
|
NM_007194.4(CHEK2):c.1073A>G (p.Gln358Arg)
|
rs2145816153
|
|
|
NM_007194.4(CHEK2):c.1074A>C (p.Gln358His)
|
rs2052607496
|
|
|
NM_007194.4(CHEK2):c.1075G>A (p.Glu359Lys)
|
|
|
|
NM_007194.4(CHEK2):c.1075G>T (p.Glu359Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1075del (p.Glu359fs)
|
|
|
|
NM_007194.4(CHEK2):c.1077A>G (p.Glu359=)
|
|
|
|
NM_007194.4(CHEK2):c.1077del (p.Glu360fs)
|
rs2145816035
|
|
|
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys)
|
rs876658337
|
|
|
NM_007194.4(CHEK2):c.1079A>T (p.Glu360Val)
|
rs2052606933
|
|
|
NM_007194.4(CHEK2):c.107del (p.Gln36fs)
|
|
|
|
NM_007194.4(CHEK2):c.1080G>A (p.Glu360=)
|
rs1601726685
|
|
|
NM_007194.4(CHEK2):c.1081G>T (p.Asp361Tyr)
|
rs199859140
|
|
|
NM_007194.4(CHEK2):c.1085G>A (p.Cys362Tyr)
|
rs767306337
|
|
|
NM_007194.4(CHEK2):c.1085G>T (p.Cys362Phe)
|
rs767306337
|
|
|
NM_007194.4(CHEK2):c.1085del (p.Cys362fs)
|
|
|
|
NM_007194.4(CHEK2):c.1087C>T (p.Leu363Phe)
|
rs1569115748
|
|
|
NM_007194.4(CHEK2):c.1088T>A (p.Leu363His)
|
|
|
|
NM_007194.4(CHEK2):c.1089_1092del (p.Ile364fs)
|
rs1064793566
|
|
|
NM_007194.4(CHEK2):c.108G>A (p.Gln36=)
|
rs876660021
|
|
|
NM_007194.4(CHEK2):c.1091T>A (p.Ile364Lys)
|
rs774179198
|
|
|
NM_007194.4(CHEK2):c.1093A>G (p.Lys365Glu)
|
rs876659921
|
|
|
NM_007194.4(CHEK2):c.1093_1094dup (p.Ile366fs)
|
rs2145815556
|
|
|
NM_007194.4(CHEK2):c.1094A>C (p.Lys365Thr)
|
rs1555914237
|
|
|
NM_007194.4(CHEK2):c.1094A>G (p.Lys365Arg)
|
|
|
|
NM_007194.4(CHEK2):c.1094_1095+4del
|
|
|
|
NM_007194.4(CHEK2):c.1094_1095inv (p.Lys365Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1095+12G>A
|
rs762414562
|
|
|
NM_007194.4(CHEK2):c.1095+12G>T
|
rs762414562
|
|
|
NM_007194.4(CHEK2):c.1095+13C>T
|
|
|
|
NM_007194.4(CHEK2):c.1095+14A>G
|
|
|
|
NM_007194.4(CHEK2):c.1095+14A>T
|
rs2145815197
|
|
|
NM_007194.4(CHEK2):c.1095+19G>C
|
rs200020484
|
|
|
NM_007194.4(CHEK2):c.1095+1G>A
|
rs768172525
|
|
|
NM_007194.4(CHEK2):c.1095+1G>C
|
|
|
|
NM_007194.4(CHEK2):c.1095+1G>T
|
rs768172525
|
|
|
NM_007194.4(CHEK2):c.1095+1dup
|
|
|
|
NM_007194.4(CHEK2):c.1095+2T>A
|
rs1569115687
|
|
|
NM_007194.4(CHEK2):c.1095+2T>C
|
rs1569115687
|
|
|
NM_007194.4(CHEK2):c.1095+2T>G
|
rs1569115687
|
|
|
NM_007194.4(CHEK2):c.1095+2dup
|
|
|
|
NM_007194.4(CHEK2):c.1095+3A>G
|
rs1601726484
|
|
|
NM_007194.4(CHEK2):c.1095+3A>T
|
rs1601726484
|
|
|
NM_007194.4(CHEK2):c.1095+5G>C
|
rs1601726470
|
|
|
NM_007194.4(CHEK2):c.1095+5_1095+6del
|
rs1601726457
|
|
|
NM_007194.4(CHEK2):c.1095+9T>A
|
|
|
|
NM_007194.4(CHEK2):c.1095G>A (p.Lys365=)
|
rs1601726502
|
|
|
NM_007194.4(CHEK2):c.1095G>T (p.Lys365Asn)
|
rs1601726502
|
|
|
NM_007194.4(CHEK2):c.1096-10T>A
|
rs1555913946
|
|
|
NM_007194.4(CHEK2):c.1096-10T>C
|
rs1555913946
|
|
|
NM_007194.4(CHEK2):c.1096-10T>G
|
rs1555913946
|
|
|
NM_007194.4(CHEK2):c.1096-15_1096-14insA
|
|
|
|
NM_007194.4(CHEK2):c.1096-17T>C
|
|
|
|
NM_007194.4(CHEK2):c.1096-1G>A
|
rs1060502716
|
|
|
NM_007194.4(CHEK2):c.1096-1G>C
|
rs1060502716
|
|
|
NM_007194.4(CHEK2):c.1096-1G>T
|
rs1060502716
|
|
|
NM_007194.4(CHEK2):c.1096-1_1096delinsCG
|
|
|
|
NM_007194.4(CHEK2):c.1096-2A>C
|
|
|
|
NM_007194.4(CHEK2):c.1096-2A>G
|
rs2145807398
|
|
|
NM_007194.4(CHEK2):c.1096-3T>G
|
|
|
|
NM_007194.4(CHEK2):c.1096-3_1096-1delinsAA
|
|
|
|
NM_007194.4(CHEK2):c.1096-3_1098del
|
rs876659838
|
|
|
NM_007194.4(CHEK2):c.1096-7A>C
|
rs2052567957
|
|
|
NM_007194.4(CHEK2):c.1096-7A>G
|
rs2052567957
|
|
|
NM_007194.4(CHEK2):c.1096-8A>T
|
|
|
|
NM_007194.4(CHEK2):c.1096A>G (p.Ile366Val)
|
rs1601723767
|
|
|
NM_007194.4(CHEK2):c.1096A>T (p.Ile366Phe)
|
rs1601723767
|
|
|
NM_007194.4(CHEK2):c.1096del (p.Ile366fs)
|
rs1555913941
|
|
|
NM_007194.4(CHEK2):c.1097T>A (p.Ile366Asn)
|
rs786202147
|
|
|
NM_007194.4(CHEK2):c.1097T>C (p.Ile366Thr)
|
rs786202147
|
|
|
NM_007194.4(CHEK2):c.1097T>G (p.Ile366Ser)
|
rs786202147
|
|
|
NM_007194.4(CHEK2):c.1098T>C (p.Ile366=)
|
rs876659635
|
|
|
NM_007194.4(CHEK2):c.1098_1108dup (p.Gly370fs)
|
rs2145806928
|
|
|
NM_007194.4(CHEK2):c.109G>A (p.Gly37Ser)
|
rs2054329987
|
|
|
NM_007194.4(CHEK2):c.109G>C (p.Gly37Arg)
|
rs2054329987
|
|
|
NM_007194.4(CHEK2):c.109_119del (p.Gly37fs)
|
rs1555932583
|
|
|
NM_007194.4(CHEK2):c.10G>A (p.Glu4Lys)
|
rs1555932959
|
|
|
NM_007194.4(CHEK2):c.1100C>G (p.Thr367Ser)
|
rs878854910
|
|
|
NM_007194.4(CHEK2):c.1102G>A (p.Asp368Asn)
|
rs755127902
|
|
|
NM_007194.4(CHEK2):c.1102G>C (p.Asp368His)
|
|
|
|
NM_007194.4(CHEK2):c.1103A>G (p.Asp368Gly)
|
rs1555913929
|
|
|
NM_007194.4(CHEK2):c.1104T>A (p.Asp368Glu)
|
rs1601723630
|
|
|
NM_007194.4(CHEK2):c.1105T>A (p.Phe369Ile)
|
|
|
|
NM_007194.4(CHEK2):c.1106T>C (p.Phe369Ser)
|
rs2145806968
|
|
|
NM_007194.4(CHEK2):c.1107T>G (p.Phe369Leu)
|
rs1555913927
|
|
|
NM_007194.4(CHEK2):c.1108G>A (p.Gly370Arg)
|
rs1555913924
|
|
|
NM_007194.4(CHEK2):c.1108G>C (p.Gly370Arg)
|
rs1555913924
|
|
|
NM_007194.4(CHEK2):c.1108G>T (p.Gly370Trp)
|
|
|
|
NM_007194.4(CHEK2):c.1109G>A (p.Gly370Glu)
|
rs587780166
|
|
|
NM_007194.4(CHEK2):c.1109G>C (p.Gly370Ala)
|
rs587780166
|
|
|
NM_007194.4(CHEK2):c.1109G>T (p.Gly370Val)
|
rs587780166
|
|
|
NM_007194.4(CHEK2):c.110G>T (p.Gly37Val)
|
rs764750609
|
|
|
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_1127del (p.His371fs)
|
|
|
|
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)
|
rs2052563898
|
|
|
NM_007194.4(CHEK2):c.1112A>C (p.His371Pro)
|
rs1601723545
|
|
|
NM_007194.4(CHEK2):c.1112A>G (p.His371Arg)
|
rs1601723545
|
|
|
NM_007194.4(CHEK2):c.1113C>G (p.His371Gln)
|
rs876659094
|
|
|
NM_007194.4(CHEK2):c.1113C>T (p.His371=)
|
rs876659094
|
|
|
NM_007194.4(CHEK2):c.1114T>C (p.Ser372Pro)
|
rs1555913901
|
|
|
NM_007194.4(CHEK2):c.1114T>G (p.Ser372Ala)
|
rs1555913901
|
|
|
NM_007194.4(CHEK2):c.1115C>A (p.Ser372Tyr)
|
rs147877722
|
|
|
NM_007194.4(CHEK2):c.1115C>G (p.Ser372Cys)
|
rs147877722
|
|
|
NM_007194.4(CHEK2):c.1115C>T (p.Ser372Phe)
|
rs147877722
|
|
|
NM_007194.4(CHEK2):c.1116C>A (p.Ser372=)
|
rs79357544
|
|
|
NM_007194.4(CHEK2):c.1116_1136del (p.Lys373_Ser379del)
|
|
|
|
NM_007194.4(CHEK2):c.1116del (p.Lys373fs)
|
rs1555913894
|
|
|
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs)
|
rs1555913894
|
|
|
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu)
|
rs74751600
|
|
|
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg)
|
rs786202446
|
|
|
NM_007194.4(CHEK2):c.1118dup (p.Ile374fs)
|
rs2052564279
|
|
|
NM_007194.4(CHEK2):c.1121T>C (p.Ile374Thr)
|
rs2145806352
|
|
|
NM_007194.4(CHEK2):c.1122T>A (p.Ile374=)
|
rs2145806315
|
|
|
NM_007194.4(CHEK2):c.1123_1124del (p.Leu375fs)
|
rs2145806264
|
|
|
NM_007194.4(CHEK2):c.1125G>C (p.Leu375Phe)
|
rs2145806184
|
|
|
NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1127G>A (p.Gly376Glu)
|
rs1601723393
|
|
|
NM_007194.4(CHEK2):c.1127del (p.Gly376fs)
|
|
|
|
NM_007194.4(CHEK2):c.1128A>G (p.Gly376=)
|
rs1555913880
|
|
|
NM_007194.4(CHEK2):c.112A>G (p.Ile38Val)
|
rs774192195
|
|
|
NM_007194.4(CHEK2):c.1131G>C (p.Glu377Asp)
|
rs2052563481
|
|
|
NM_007194.4(CHEK2):c.1131_1132del (p.Glu377fs)
|
|
|
|
NM_007194.4(CHEK2):c.1132A>G (p.Thr378Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1132A>T (p.Thr378Ser)
|
rs1601723329
|
|
|
NM_007194.4(CHEK2):c.1133_1142del (p.Thr378fs)
|
rs1601723175
|
|
|
NM_007194.4(CHEK2):c.1134C>T (p.Thr378=)
|
rs876658880
|
|
|
NM_007194.4(CHEK2):c.1134del (p.Ser379fs)
|
rs1569114113
|
|
|
NM_007194.4(CHEK2):c.1135T>C (p.Ser379Pro)
|
rs2052562867
|
|
|
NM_007194.4(CHEK2):c.1135T>G (p.Ser379Ala)
|
rs2052562867
|
|
|
NM_007194.4(CHEK2):c.1136C>G (p.Ser379Cys)
|
rs267606211
|
|
|
NM_007194.4(CHEK2):c.1136C>T (p.Ser379Phe)
|
rs267606211
|
|
|
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs)
|
rs1060502684
|
|
|
NM_007194.4(CHEK2):c.113T>C (p.Ile38Thr)
|
rs2054329519
|
|
|
NM_007194.4(CHEK2):c.1140C>T (p.Leu380=)
|
rs2145805584
|
|
|
NM_007194.4(CHEK2):c.1141A>C (p.Met381Leu)
|
rs375130261
|
|
|
NM_007194.4(CHEK2):c.1141A>T (p.Met381Leu)
|
rs375130261
|
|
|
NM_007194.4(CHEK2):c.1142T>C (p.Met381Thr)
|
rs1569114039
|
|
|
NM_007194.4(CHEK2):c.1142_1143insA (p.Met381fs)
|
rs1064794965
|
|
|
NM_007194.4(CHEK2):c.1143G>A (p.Met381Ile)
|
rs1601723143
|
|
|
NM_007194.4(CHEK2):c.1143G>T (p.Met381Ile)
|
|
|
|
NM_007194.4(CHEK2):c.1147A>G (p.Thr383Ala)
|
rs769439021
|
|
|
NM_007194.4(CHEK2):c.1148C>A (p.Thr383Asn)
|
rs202089930
|
|
|
NM_007194.4(CHEK2):c.1148C>T (p.Thr383Ile)
|
rs202089930
|
|
|
NM_007194.4(CHEK2):c.1149C>G (p.Thr383=)
|
rs1555913842
|
|
|
NM_007194.4(CHEK2):c.1149C>T (p.Thr383=)
|
rs1555913842
|
|
|
NM_007194.4(CHEK2):c.1152A>G (p.Leu384=)
|
rs1060502715
|
|
|
NM_007194.4(CHEK2):c.1152A>T (p.Leu384Phe)
|
rs1060502715
|
|
|
NM_007194.4(CHEK2):c.1153T>G (p.Cys385Gly)
|
rs587782817
|
|
|
NM_007194.4(CHEK2):c.1154G>C (p.Cys385Ser)
|
rs145324174
|
|
|
NM_007194.4(CHEK2):c.1155T>A (p.Cys385Ter)
|
rs2145805017
|
|
|
NM_007194.4(CHEK2):c.1156G>A (p.Gly386Arg)
|
rs1601722994
|
|
|
NM_007194.4(CHEK2):c.1157G>A (p.Gly386Glu)
|
rs1555913820
|
|
|
NM_007194.4(CHEK2):c.1157G>C (p.Gly386Ala)
|
rs1555913820
|
|
|
NM_007194.4(CHEK2):c.1157G>T (p.Gly386Val)
|
rs1555913820
|
|
|
NM_007194.4(CHEK2):c.1159A>G (p.Thr387Ala)
|
rs771387164
|
|
|
NM_007194.4(CHEK2):c.1159A>T (p.Thr387Ser)
|
rs771387164
|
|
|
NM_007194.4(CHEK2):c.1159_1160delinsG (p.Thr387fs)
|
|
|
|
NM_007194.4(CHEK2):c.115T>C (p.Ser39Pro)
|
rs1060502696
|
|
|
NM_007194.4(CHEK2):c.1160C>A (p.Thr387Asn)
|
rs587780168
|
|
|
NM_007194.4(CHEK2):c.1160C>T (p.Thr387Ile)
|
rs587780168
|
|
|
NM_007194.4(CHEK2):c.1161C>G (p.Thr387=)
|
rs1601722925
|
|
|
NM_007194.4(CHEK2):c.1161C>T (p.Thr387=)
|
rs1601722925
|
|
|
NM_007194.4(CHEK2):c.1162C>G (p.Pro388Ala)
|
rs1555913811
|
|
|
NM_007194.4(CHEK2):c.1162C>T (p.Pro388Ser)
|
rs1555913811
|
|
|
NM_007194.4(CHEK2):c.1163C>G (p.Pro388Arg)
|
rs1601722891
|
|
|
NM_007194.4(CHEK2):c.1163_1164dup (p.Thr389fs)
|
rs758677815
|
|
|
NM_007194.4(CHEK2):c.1164C>T (p.Pro388=)
|
rs878854911
|
|
|
NM_007194.4(CHEK2):c.1164del (p.Thr389fs)
|
rs758677815
|
|
|
NM_007194.4(CHEK2):c.1164dup (p.Thr389fs)
|
rs758677815
|
|
|
NM_007194.4(CHEK2):c.1165A>G (p.Thr389Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1166C>T (p.Thr389Ile)
|
rs2145804544
|
|
|
NM_007194.4(CHEK2):c.1167C>A (p.Thr389=)
|
rs1314236188
|
|
|
NM_007194.4(CHEK2):c.1167dup (p.Tyr390fs)
|
|
|
|
NM_007194.4(CHEK2):c.1168T>A (p.Tyr390Asn)
|
rs2052558996
|
|
|
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys)
|
rs200928781
|
|
|
NM_007194.4(CHEK2):c.1169A>T (p.Tyr390Phe)
|
rs200928781
|
|
|
NM_007194.4(CHEK2):c.116C>A (p.Ser39Tyr)
|
|
|
|
NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter)
|
rs886039631
|
|
|
NM_007194.4(CHEK2):c.1170C>T (p.Tyr390=)
|
rs886039631
|
|
|
NM_007194.4(CHEK2):c.1170del (p.Leu391fs)
|
rs2145804427
|
|
|
NM_007194.4(CHEK2):c.1173G>A (p.Leu391=)
|
rs2145804298
|
|
|
NM_007194.4(CHEK2):c.1174G>A (p.Ala392Thr)
|
rs587782184
|
|
|
NM_007194.4(CHEK2):c.1175C>A (p.Ala392Glu)
|
rs373073383
|
|
|
NM_007194.4(CHEK2):c.1176G>C (p.Ala392=)
|
|
|
|
NM_007194.4(CHEK2):c.1176G>T (p.Ala392=)
|
rs142692907
|
|
|
NM_007194.4(CHEK2):c.1177C>T (p.Pro393Ser)
|
rs2052558087
|
|
|
NM_007194.4(CHEK2):c.1178C>G (p.Pro393Arg)
|
rs730881690
|
|
|
NM_007194.4(CHEK2):c.1179T>C (p.Pro393=)
|
|
|
|
NM_007194.4(CHEK2):c.117C>T (p.Ser39=)
|
|
|
|
NM_007194.4(CHEK2):c.117_132del (p.Ser40fs)
|
|
|
|
NM_007194.4(CHEK2):c.1180G>T (p.Glu394Ter)
|
rs587780169
|
|
|
NM_007194.4(CHEK2):c.1182_1187del (p.Glu394_Leu396delinsAsp)
|
rs2052557170
|
|
|
NM_007194.4(CHEK2):c.1183G>A (p.Val395Ile)
|
rs587780170
|
|
|
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu)
|
rs587780170
|
|
|
NM_007194.4(CHEK2):c.1183G>T (p.Val395Phe)
|
rs587780170
|
|
|
NM_007194.4(CHEK2):c.1184T>A (p.Val395Asp)
|
rs1555913769
|
|
|
NM_007194.4(CHEK2):c.1184T>C (p.Val395Ala)
|
rs1555913769
|
|
|
NM_007194.4(CHEK2):c.1184T>G (p.Val395Gly)
|
rs1555913769
|
|
|
NM_007194.4(CHEK2):c.1185T>G (p.Val395=)
|
rs2145803865
|
|
|
NM_007194.4(CHEK2):c.1188_1194dup (p.Val399fs)
|
rs1569113653
|
|
|
NM_007194.4(CHEK2):c.1188del (p.Val397fs)
|
rs753159426
|
|
|
NM_007194.4(CHEK2):c.1189G>A (p.Val397Ile)
|
|
|
|
NM_007194.4(CHEK2):c.118A>G (p.Ser40Gly)
|
rs1601853229
|
|
|
NM_007194.4(CHEK2):c.118_119delinsCC (p.Ser40Pro)
|
rs1569171216
|
|
|
NM_007194.4(CHEK2):c.118_133del (p.Ser40fs)
|
rs1569171106
|
|
|
NM_007194.4(CHEK2):c.1192T>C (p.Ser398Pro)
|
|
|
|
NM_007194.4(CHEK2):c.1192dup (p.Ser398fs)
|
|
|
|
NM_007194.4(CHEK2):c.1193C>G (p.Ser398Cys)
|
|
|
|
NM_007194.4(CHEK2):c.1193_1197del (p.Ser398fs)
|
|
|
|
NM_007194.4(CHEK2):c.1193del (p.Ser398fs)
|
rs2052556835
|
|
|
NM_007194.4(CHEK2):c.1195G>T (p.Val399Phe)
|
rs876658682
|
|
|
NM_007194.4(CHEK2):c.1196T>G (p.Val399Gly)
|
rs527878975
|
|
|
NM_007194.4(CHEK2):c.1197del (p.Thr401fs)
|
rs876658302
|
|
|
NM_007194.4(CHEK2):c.1197dup (p.Gly400fs)
|
rs876658302
|
|
|
NM_007194.4(CHEK2):c.1199G>A (p.Gly400Glu)
|
rs1476312560
|
|
|
NM_007194.4(CHEK2):c.119G>C (p.Ser40Thr)
|
rs1060502686
|
|
|
NM_007194.4(CHEK2):c.1200G>A (p.Gly400=)
|
rs876659590
|
|
|
NM_007194.4(CHEK2):c.1201_1205del (p.Thr401fs)
|
rs2145803112
|
|
|
NM_007194.4(CHEK2):c.1202C>G (p.Thr401Ser)
|
rs1601722432
|
|
|
NM_007194.4(CHEK2):c.1203T>A (p.Thr401=)
|
rs560781587
|
|
|
NM_007194.4(CHEK2):c.1203T>G (p.Thr401=)
|
|
|
|
NM_007194.4(CHEK2):c.1204G>T (p.Ala402Ser)
|
rs758206293
|
|
|
NM_007194.4(CHEK2):c.1205C>G (p.Ala402Gly)
|
rs1175088679
|
|
|
NM_007194.4(CHEK2):c.1205C>T (p.Ala402Val)
|
rs1175088679
|
|
|
NM_007194.4(CHEK2):c.1205_1206delinsTC (p.Ala402Val)
|
rs1555913720
|
|
|
NM_007194.4(CHEK2):c.1207G>A (p.Gly403Arg)
|
rs1601722357
|
|
|
NM_007194.4(CHEK2):c.1207G>C (p.Gly403Arg)
|
|
|
|
NM_007194.4(CHEK2):c.1207G>T (p.Gly403Trp)
|
|
|
|
NM_007194.4(CHEK2):c.1208G>A (p.Gly403Glu)
|
rs1435731482
|
|
|
NM_007194.4(CHEK2):c.1208G>T (p.Gly403Val)
|
rs1435731482
|
|
|
NM_007194.4(CHEK2):c.1209G>A (p.Gly403=)
|
rs1350419049
|
|
|
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs)
|
rs1555913672
|
|
|
NM_007194.4(CHEK2):c.1209_1233dup (p.Ser412delinsValTer)
|
rs1555913672
|
|
|
NM_007194.4(CHEK2):c.120CTC[1] (p.Ser42del)
|
rs1294840272
|
|
|
NM_007194.4(CHEK2):c.1210T>A (p.Tyr404Asn)
|
rs1555913715
|
|
|
NM_007194.4(CHEK2):c.1210T>C (p.Tyr404His)
|
rs1555913715
|
|
|
NM_007194.4(CHEK2):c.1210_1211insTT (p.Tyr404fs)
|
rs2052554226
|
|
|
NM_007194.4(CHEK2):c.1210_1216dup (p.Arg406delinsLeuTer)
|
|
|
|
NM_007194.4(CHEK2):c.1210_1219del (p.Tyr404fs)
|
rs2052553224
|
|
|
NM_007194.4(CHEK2):c.1210del (p.Tyr404fs)
|
|
|
|
NM_007194.4(CHEK2):c.1210dup (p.Tyr404fs)
|
|
|
|
NM_007194.4(CHEK2):c.1211A>G (p.Tyr404Cys)
|
rs1060502707
|
|
|
NM_007194.4(CHEK2):c.1212T>A (p.Tyr404Ter)
|
rs587781836
|
|
|
NM_007194.4(CHEK2):c.1213A>G (p.Asn405Asp)
|
|
|
|
NM_007194.4(CHEK2):c.1213A>T (p.Asn405Tyr)
|
rs2145802765
|
|
|
NM_007194.4(CHEK2):c.1214A>T (p.Asn405Ile)
|
rs369070738
|
|
|
NM_007194.4(CHEK2):c.1215C>T (p.Asn405=)
|
rs587780171
|
|
|
NM_007194.4(CHEK2):c.1216C>A (p.Arg406Ser)
|
rs587782527
|
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
|
NM_007194.4(CHEK2):c.1219G>A (p.Ala407Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1219G>C (p.Ala407Pro)
|
|
|
|
NM_007194.4(CHEK2):c.1220C>T (p.Ala407Val)
|
rs876660527
|
|
|
NM_007194.4(CHEK2):c.1222G>A (p.Val408Met)
|
rs1555913700
|
|
|
NM_007194.4(CHEK2):c.1222_1237del (p.Ala407_Val408insTer)
|
rs786203031
|
|
|
NM_007194.4(CHEK2):c.1223T>C (p.Val408Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1225G>A (p.Asp409Asn)
|
rs766191039
|
|
|
NM_007194.4(CHEK2):c.1227C>A (p.Asp409Glu)
|
|
|
|
NM_007194.4(CHEK2):c.1227C>G (p.Asp409Glu)
|
|
|
|
NM_007194.4(CHEK2):c.1227C>T (p.Asp409=)
|
rs2145802224
|
|
|
NM_007194.4(CHEK2):c.1227CTG[1] (p.Cys410del)
|
rs2052551741
|
|
|
NM_007194.4(CHEK2):c.1228T>C (p.Cys410Arg)
|
rs1555913689
|
|
|
NM_007194.4(CHEK2):c.1228T>G (p.Cys410Gly)
|
rs1555913689
|
|
|
NM_007194.4(CHEK2):c.122C>T (p.Ser41Phe)
|
rs121908694
|
|
|
NM_007194.4(CHEK2):c.1230C>A (p.Cys410Ter)
|
rs773380144
|
|
|
NM_007194.4(CHEK2):c.1231T>A (p.Trp411Arg)
|
rs587780172
|
|
|
NM_007194.4(CHEK2):c.1231T>C (p.Trp411Arg)
|
rs587780172
|
|
|
NM_007194.4(CHEK2):c.1231T>G (p.Trp411Gly)
|
rs587780172
|
|
|
NM_007194.4(CHEK2):c.1233G>A (p.Trp411Ter)
|
rs1064796572
|
|
|
NM_007194.4(CHEK2):c.1234A>C (p.Ser412Arg)
|
rs2052550972
|
|
|
NM_007194.4(CHEK2):c.1235G>A (p.Ser412Asn)
|
rs1555913662
|
|
|
NM_007194.4(CHEK2):c.1236T>G (p.Ser412Arg)
|
rs1601722002
|
|
|
NM_007194.4(CHEK2):c.1238T>A (p.Leu413Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1238T>C (p.Leu413Ser)
|
rs1248967885
|
|
|
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter)
|
rs1248967885
|
|
|
NM_007194.4(CHEK2):c.1238_1246delinsAGGAG (p.Leu413_Ile416delinsTer)
|
rs1555913645
|
|
|
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer)
|
rs765664259
|
|
|
NM_007194.4(CHEK2):c.1239A>G (p.Leu413=)
|
|
|
|
NM_007194.4(CHEK2):c.1239del (p.Gly414fs)
|
|
|
|
NM_007194.4(CHEK2):c.123del (p.Ser42fs)
|
|
|
|
NM_007194.4(CHEK2):c.1240G>A (p.Gly414Arg)
|
rs878854913
|
|
|
NM_007194.4(CHEK2):c.1240G>T (p.Gly414Ter)
|
rs878854913
|
|
|
NM_007194.4(CHEK2):c.1241G>A (p.Gly414Glu)
|
rs1601721915
|
|
|
NM_007194.4(CHEK2):c.1241G>C (p.Gly414Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1241G>T (p.Gly414Val)
|
|
|
|
NM_007194.4(CHEK2):c.1243G>A (p.Val415Ile)
|
rs1601721900
|
|
|
NM_007194.4(CHEK2):c.1243G>T (p.Val415Phe)
|
rs1601721900
|
|
|
NM_007194.4(CHEK2):c.1244T>A (p.Val415Asp)
|
rs748555394
|
|
|
NM_007194.4(CHEK2):c.1246A>C (p.Ile416Leu)
|
|
|
|
NM_007194.4(CHEK2):c.1246A>T (p.Ile416Phe)
|
rs1601721850
|
|
|
NM_007194.4(CHEK2):c.1246_1248del (p.Ile416del)
|
rs760118917
|
|
|
NM_007194.4(CHEK2):c.1246del (p.Ile416fs)
|
rs2145801378
|
|
|
NM_007194.4(CHEK2):c.1246dup (p.Ile416fs)
|
rs2145801350
|
|
|
NM_007194.4(CHEK2):c.1247T>C (p.Ile416Thr)
|
rs1555913642
|
|
|
NM_007194.4(CHEK2):c.1248T>A (p.Ile416=)
|
rs1601721811
|
|
|
NM_007194.4(CHEK2):c.1248del (p.Leu417fs)
|
rs2145801216
|
|
|
NM_007194.4(CHEK2):c.1249C>A (p.Leu417Ile)
|
|
|
|
NM_007194.4(CHEK2):c.1249C>G (p.Leu417Val)
|
rs2052548069
|
|
|
NM_007194.4(CHEK2):c.1249C>T (p.Leu417Phe)
|
rs2052548069
|
|
|
NM_007194.4(CHEK2):c.124T>A (p.Ser42Thr)
|
rs1569171191
|
|
|
NM_007194.4(CHEK2):c.1250T>A (p.Leu417His)
|
|
|
|
NM_007194.4(CHEK2):c.1250T>C (p.Leu417Pro)
|
rs1569113171
|
|
|
NM_007194.4(CHEK2):c.1250_1258delinsATCTTTTATCG (p.Leu417fs)
|
|
|
|
NM_007194.4(CHEK2):c.1252T>C (p.Phe418Leu)
|
rs1064793737
|
|
|
NM_007194.4(CHEK2):c.1253T>C (p.Phe418Ser)
|
rs2052547427
|
|
|
NM_007194.4(CHEK2):c.1253T>G (p.Phe418Cys)
|
rs2052547427
|
|
|
NM_007194.4(CHEK2):c.1253_1254insA (p.Phe418fs)
|
|
|
|
NM_007194.4(CHEK2):c.1254T>A (p.Phe418Leu)
|
rs774870353
|
|
|
NM_007194.4(CHEK2):c.1254_1255insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGAGTTATTCTTTTT (p.Ile419delinsPhePhePhePhePhePheXaaXaaXaaXaaThrSerTer)
|
|
|
|
NM_007194.4(CHEK2):c.1254del (p.Phe418fs)
|
rs587780173
|
|
|
NM_007194.4(CHEK2):c.1255A>G (p.Ile419Val)
|
rs1569113123
|
|
|
NM_007194.4(CHEK2):c.1256T>C (p.Ile419Thr)
|
rs1601721712
|
|
|
NM_007194.4(CHEK2):c.1256T>G (p.Ile419Ser)
|
rs1601721712
|
|
|
NM_007194.4(CHEK2):c.1257C>A (p.Ile419=)
|
|
|
|
NM_007194.4(CHEK2):c.1258T>C (p.Cys420Arg)
|
rs2145800838
|
|
|
NM_007194.4(CHEK2):c.1258del (p.Cys420fs)
|
|
|
|
NM_007194.4(CHEK2):c.1259+10A>G
|
rs2145800586
|
|
|
NM_007194.4(CHEK2):c.1259+11T>C
|
|
|
|
NM_007194.4(CHEK2):c.1259+14T>C
|
rs780245762
|
|
|
NM_007194.4(CHEK2):c.1259+17T>A
|
|
|
|
NM_007194.4(CHEK2):c.1259+18T>G
|
|
|
|
NM_007194.4(CHEK2):c.1259+19G>C
|
|
|
|
NM_007194.4(CHEK2):c.1259+19_1259+20insAAGAAATATTTTCATTGGGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
|
NM_007194.4(CHEK2):c.1259+1G>A
|
rs121908707
|
|
|
NM_007194.4(CHEK2):c.1259+1G>C
|
rs121908707
|
|
|
NM_007194.4(CHEK2):c.1259+1G>T
|
rs121908707
|
|
|
NM_007194.4(CHEK2):c.1259+2T>A
|
|
|
|
NM_007194.4(CHEK2):c.1259+2T>C
|
rs1555913631
|
|
|
NM_007194.4(CHEK2):c.1259+2del
|
rs1555913632
|
|
|
NM_007194.4(CHEK2):c.1259+3A>C
|
rs768691252
|
|
|
NM_007194.4(CHEK2):c.1259+3A>T
|
|
|
|
NM_007194.4(CHEK2):c.1259+5G>A
|
rs1555913629
|
|
|
NM_007194.4(CHEK2):c.1259+7A>G
|
rs1057523752
|
|
|
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr)
|
rs578218280
|
|
|
NM_007194.4(CHEK2):c.1259G>T (p.Cys420Phe)
|
rs578218280
|
|
|
NM_007194.4(CHEK2):c.125C>G (p.Ser42Cys)
|
rs1483975421
|
|
|
NM_007194.4(CHEK2):c.125del (p.Ser42fs)
|
|
|
|
NM_007194.4(CHEK2):c.1260-10C>T
|
|
|
|
NM_007194.4(CHEK2):c.1260-14C>G
|
|
|
|
NM_007194.4(CHEK2):c.1260-15T>G
|
rs1569112557
|
|
|
NM_007194.4(CHEK2):c.1260-17T>C
|
rs2145796544
|
|
|
NM_007194.4(CHEK2):c.1260-18C>G
|
rs1057521375
|
|
|
NM_007194.4(CHEK2):c.1260-19T>C
|
rs2145796574
|
|
|
NM_007194.4(CHEK2):c.1260-1G>T
|
rs786201906
|
|
|
NM_007194.4(CHEK2):c.1260-20CT[3]
|
rs760037989
|
|
|
NM_007194.4(CHEK2):c.1260-24_1263del
|
rs1601720308
|
|
|
NM_007194.4(CHEK2):c.1260-4T>G
|
rs1064793337
|
|
|
NM_007194.4(CHEK2):c.1260-5T>C
|
rs2052526695
|
|
|
NM_007194.4(CHEK2):c.1260-5T>G
|
rs2052526695
|
|
|
NM_007194.4(CHEK2):c.1260-6A>G
|
rs767735261
|
|
|
NM_007194.4(CHEK2):c.1260-6del
|
rs878854912
|
|
|
NM_007194.4(CHEK2):c.1260-9A>G
|
|
|
|
NM_007194.4(CHEK2):c.1260C>A (p.Cys420Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1260C>G (p.Cys420Trp)
|
rs762205611
|
|
|
NM_007194.4(CHEK2):c.1260C>T (p.Cys420=)
|
|
|
|
NM_007194.4(CHEK2):c.1261C>T (p.Leu421Phe)
|
rs1060502699
|
|
|
NM_007194.4(CHEK2):c.1262T>A (p.Leu421His)
|
rs1060502714
|
|
|
NM_007194.4(CHEK2):c.1262T>C (p.Leu421Pro)
|
rs1060502714
|
|
|
NM_007194.4(CHEK2):c.1263T>C (p.Leu421=)
|
rs2052525259
|
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
|
NM_007194.4(CHEK2):c.1264A>C (p.Ser422Arg)
|
rs2052525092
|
|
|
NM_007194.4(CHEK2):c.1264dup (p.Ser422fs)
|
rs2145796040
|
|
|
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr)
|
rs549755590
|
|
|
NM_007194.4(CHEK2):c.1265del (p.Ser422fs)
|
|
|
|
NM_007194.4(CHEK2):c.1266T>A (p.Ser422Arg)
|
rs1483964791
|
|
|
NM_007194.4(CHEK2):c.1266T>G (p.Ser422Arg)
|
|
|
|
NM_007194.4(CHEK2):c.1267G>A (p.Gly423Arg)
|
rs730881691
|
|
|
NM_007194.4(CHEK2):c.1267G>T (p.Gly423Trp)
|
rs730881691
|
|
|
NM_007194.4(CHEK2):c.1268G>A (p.Gly423Glu)
|
rs1064793300
|
|
|
NM_007194.4(CHEK2):c.1268G>C (p.Gly423Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1268G>T (p.Gly423Val)
|
|
|
|
NM_007194.4(CHEK2):c.1269G>T (p.Gly423=)
|
rs749368980
|
|
|
NM_007194.4(CHEK2):c.126T>A (p.Ser42=)
|
rs1601853112
|
|
|
NM_007194.4(CHEK2):c.126_127insTG (p.Thr43Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1271A>G (p.Tyr424Cys)
|
rs2145795779
|
|
|
NM_007194.4(CHEK2):c.1271del (p.Tyr424fs)
|
|
|
|
NM_007194.4(CHEK2):c.1271dup (p.Tyr424Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1272T>A (p.Tyr424Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1272T>C (p.Tyr424=)
|
rs1257494163
|
|
|
NM_007194.4(CHEK2):c.1272T>G (p.Tyr424Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1274C>T (p.Pro425Leu)
|
rs1555913537
|
|
|
NM_007194.4(CHEK2):c.1274dup (p.Pro426fs)
|
|
|
|
NM_007194.4(CHEK2):c.1275A>G (p.Pro425=)
|
rs28601856
|
|
|
NM_007194.4(CHEK2):c.1275del (p.Pro426fs)
|
|
|
|
NM_007194.4(CHEK2):c.1276C>G (p.Pro426Ala)
|
rs1555913523
|
|
|
NM_007194.4(CHEK2):c.1276C>T (p.Pro426Ser)
|
rs1555913523
|
|
|
NM_007194.4(CHEK2):c.1277C>G (p.Pro426Arg)
|
rs769933461
|
|
|
NM_007194.4(CHEK2):c.1277C>T (p.Pro426Leu)
|
rs769933461
|
|
|
NM_007194.4(CHEK2):c.1278T>G (p.Pro426=)
|
rs1060504689
|
|
|
NM_007194.4(CHEK2):c.1279T>A (p.Phe427Ile)
|
rs2145795572
|
|
|
NM_007194.4(CHEK2):c.1279T>G (p.Phe427Val)
|
|
|
|
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)
|
rs1569112324
|
|
|
NM_007194.4(CHEK2):c.1280T>A (p.Phe427Tyr)
|
rs1601720056
|
|
|
NM_007194.4(CHEK2):c.1280T>C (p.Phe427Ser)
|
rs1601720056
|
|
|
NM_007194.4(CHEK2):c.1280T>G (p.Phe427Cys)
|
|
|
|
NM_007194.4(CHEK2):c.1281_1284del (p.Phe427fs)
|
|
|
|
NM_007194.4(CHEK2):c.1285G>A (p.Glu429Lys)
|
rs1064795041
|
|
|
NM_007194.4(CHEK2):c.1286A>G (p.Glu429Gly)
|
rs587782299
|
|
|
NM_007194.4(CHEK2):c.1288C>T (p.His430Tyr)
|
rs1601719955
|
|
|
NM_007194.4(CHEK2):c.1289A>G (p.His430Arg)
|
|
|
|
NM_007194.4(CHEK2):c.128C>A (p.Thr43Asn)
|
rs2054327963
|
|
|
NM_007194.4(CHEK2):c.1290_1292delinsGTGACTCAAGTGTCACTTCAGT (p.His430_Arg431delinsGlnTer)
|
|
|
|
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter)
|
rs771772104
|
|
|
NM_007194.4(CHEK2):c.1292G>T (p.Arg431Met)
|
rs1555913504
|
|
|
NM_007194.4(CHEK2):c.1293del (p.Thr432fs)
|
|
|
|
NM_007194.4(CHEK2):c.1294A>C (p.Thr432Pro)
|
rs2145795088
|
|
|
NM_007194.4(CHEK2):c.1296T>C (p.Thr432=)
|
rs2145795034
|
|
|
NM_007194.4(CHEK2):c.1297C>T (p.Gln433Ter)
|
rs1555913494
|
|
|
NM_007194.4(CHEK2):c.1298_1299del (p.Gln433fs)
|
rs1555913493
|
|
|
NM_007194.4(CHEK2):c.1299_1300delinsGT (p.Val434Leu)
|
rs2145794938
|
|
|
NM_007194.4(CHEK2):c.129C>A (p.Thr43=)
|
rs786202779
|
|
|
NM_007194.4(CHEK2):c.129C>G (p.Thr43=)
|
rs786202779
|
|
|
NM_007194.4(CHEK2):c.129C>T (p.Thr43=)
|
rs786202779
|
|
|
NM_007194.4(CHEK2):c.129del (p.Ser44fs)
|
|
|
|
NM_007194.4(CHEK2):c.12G>A (p.Glu4=)
|
rs1213043094
|
|
|
NM_007194.4(CHEK2):c.12G>T (p.Glu4Asp)
|
|
|
|
NM_007194.4(CHEK2):c.1300G>A (p.Val434Met)
|
rs876660323
|
|
|
NM_007194.4(CHEK2):c.1302G>A (p.Val434=)
|
rs1060504693
|
|
|
NM_007194.4(CHEK2):c.1304C>A (p.Ser435Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1304C>T (p.Ser435Leu)
|
rs1555913484
|
|
|
NM_007194.4(CHEK2):c.1305A>G (p.Ser435=)
|
|
|
|
NM_007194.4(CHEK2):c.1306C>A (p.Leu436Met)
|
rs17882922
|
|
|
NM_007194.4(CHEK2):c.1306C>T (p.Leu436=)
|
rs17882922
|
|
|
NM_007194.4(CHEK2):c.1306_1307delinsAC (p.Leu436Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1306del (p.Ser435_Leu436insTer)
|
rs2145794764
|
|
|
NM_007194.4(CHEK2):c.1307T>G (p.Leu436Arg)
|
rs878854914
|
|
|
NM_007194.4(CHEK2):c.1308G>A (p.Leu436=)
|
rs2145794670
|
|
|
NM_007194.4(CHEK2):c.1312G>A (p.Asp438Asn)
|
rs200050883
|
|
|
NM_007194.4(CHEK2):c.1312G>C (p.Asp438His)
|
rs200050883
|
|
|
NM_007194.4(CHEK2):c.1312dup (p.Asp438fs)
|
|
|
|
NM_007194.4(CHEK2):c.1313A>G (p.Asp438Gly)
|
rs1569112074
|
|
|
NM_007194.4(CHEK2):c.1313A>T (p.Asp438Val)
|
rs1569112074
|
|
|
NM_007194.4(CHEK2):c.1314del (p.Gln439fs)
|
rs2145794535
|
|
|
NM_007194.4(CHEK2):c.1315C>A (p.Gln439Lys)
|
rs778989252
|
|
|
NM_007194.4(CHEK2):c.1315C>G (p.Gln439Glu)
|
rs778989252
|
|
|
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)
|
rs778989252
|
|
|
NM_007194.4(CHEK2):c.1316A>C (p.Gln439Pro)
|
|
|
|
NM_007194.4(CHEK2):c.1317G>C (p.Gln439His)
|
rs878854915
|
|
|
NM_007194.4(CHEK2):c.1318A>C (p.Ile440Leu)
|
rs587780176
|
|
|
NM_007194.4(CHEK2):c.1318del (p.Ile440fs)
|
|
|
|
NM_007194.4(CHEK2):c.131G>C (p.Ser44Thr)
|
rs1569171123
|
|
|
NM_007194.4(CHEK2):c.1320C>T (p.Ile440=)
|
rs1555913469
|
|
|
NM_007194.4(CHEK2):c.1321A>C (p.Thr441Pro)
|
rs876660046
|
|
|
NM_007194.4(CHEK2):c.1321del (p.Thr441fs)
|
|
|
|
NM_007194.4(CHEK2):c.1323del (p.Ser442fs)
|
rs1555913464
|
|
|
NM_007194.4(CHEK2):c.1324A>G (p.Ser442Gly)
|
|
|
|
NM_007194.4(CHEK2):c.1324del (p.Ser442fs)
|
rs2145794195
|
|
|
NM_007194.4(CHEK2):c.1325G>C (p.Ser442Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1325_1336del (p.Ser442_Tyr445del)
|
rs1601719464
|
|
|
NM_007194.4(CHEK2):c.1326T>C (p.Ser442=)
|
rs2145794117
|
|
|
NM_007194.4(CHEK2):c.1327G>A (p.Gly443Arg)
|
|
|
|
NM_007194.4(CHEK2):c.1327G>T (p.Gly443Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1328G>A (p.Gly443Glu)
|
rs2145794064
|
|
|
NM_007194.4(CHEK2):c.1328G>T (p.Gly443Val)
|
|
|
|
NM_007194.4(CHEK2):c.1331A>G (p.Lys444Arg)
|
rs1555913454
|
|
|
NM_007194.4(CHEK2):c.1332del (p.Lys444fs)
|
rs2145794013
|
|
|
NM_007194.4(CHEK2):c.1334A>G (p.Tyr445Cys)
|
rs778246892
|
|
|
NM_007194.4(CHEK2):c.1334dup (p.Tyr445Ter)
|
rs1214213337
|
|
|
NM_007194.4(CHEK2):c.1335C>A (p.Tyr445Ter)
|
rs1601719469
|
|
|
NM_007194.4(CHEK2):c.1335C>G (p.Tyr445Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1335C>T (p.Tyr445=)
|
rs1601719469
|
|
|
NM_007194.4(CHEK2):c.1335_1336del (p.Tyr445_Asn446delinsTer)
|
|
|
|
NM_007194.4(CHEK2):c.1335_1336delinsAC (p.Tyr445_Asn446delinsTer)
|
rs1601719449
|
|
|
NM_007194.4(CHEK2):c.1335_1342del (p.Asn446fs)
|
|
|
|
NM_007194.4(CHEK2):c.1335del (p.Lys444_Tyr445insTer)
|
|
|
|
NM_007194.4(CHEK2):c.1337A>G (p.Asn446Ser)
|
rs2052517802
|
|
|
NM_007194.4(CHEK2):c.1337del (p.Asn446fs)
|
rs876659639
|
|
|
NM_007194.4(CHEK2):c.1339T>C (p.Phe447Leu)
|
rs17881473
|
|
|
NM_007194.4(CHEK2):c.133A>G (p.Thr45Ala)
|
|
|
|
NM_007194.4(CHEK2):c.133del (p.Thr45fs)
|
rs1555932518
|
|
|
NM_007194.4(CHEK2):c.1340T>G (p.Phe447Cys)
|
rs876660373
|
|
|
NM_007194.4(CHEK2):c.1341del (p.Phe447fs)
|
rs2145793726
|
|
|
NM_007194.4(CHEK2):c.1342A>G (p.Ile448Val)
|
rs750012749
|
|
|
NM_007194.4(CHEK2):c.1342_1356del (p.Ile448_Trp452del)
|
|
|
|
NM_007194.4(CHEK2):c.1343_1344del (p.Ile448fs)
|
rs2145793644
|
|
|
NM_007194.4(CHEK2):c.1344del (p.Pro449fs)
|
rs1601719328
|
|
|
NM_007194.4(CHEK2):c.1345C>A (p.Pro449Thr)
|
rs1555913437
|
|
|
NM_007194.4(CHEK2):c.1346C>T (p.Pro449Leu)
|
rs2145793532
|
|
|
NM_007194.4(CHEK2):c.1347T>C (p.Pro449=)
|
rs1294969715
|
|
|
NM_007194.4(CHEK2):c.1347del (p.Glu450fs)
|
rs1601719287
|
|
|
NM_007194.4(CHEK2):c.1348G>C (p.Glu450Gln)
|
|
|
|
NM_007194.4(CHEK2):c.1348G>T (p.Glu450Ter)
|
rs1555913429
|
|
|
NM_007194.4(CHEK2):c.1348del (p.Glu450fs)
|
|
|
|
NM_007194.4(CHEK2):c.1349A>C (p.Glu450Ala)
|
rs2145793434
|
|
|
NM_007194.4(CHEK2):c.134C>G (p.Thr45Arg)
|
rs558321010
|
|
|
NM_007194.4(CHEK2):c.1350A>C (p.Glu450Asp)
|
|
|
|
NM_007194.4(CHEK2):c.1350del (p.Val451fs)
|
|
|
|
NM_007194.4(CHEK2):c.1352T>A (p.Val451Asp)
|
rs139088611
|
|
|
NM_007194.4(CHEK2):c.1354T>C (p.Trp452Arg)
|
rs764449869
|
|
|
NM_007194.4(CHEK2):c.1354T>G (p.Trp452Gly)
|
rs764449869
|
|
|
NM_007194.4(CHEK2):c.1355G>A (p.Trp452Ter)
|
rs1601719186
|
|
|
NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter)
|
rs730881702
|
|
|
NM_007194.4(CHEK2):c.1359A>C (p.Ala453=)
|
rs1555913419
|
|
|
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.1360_1361del (p.Glu454fs)
|
rs2052514918
|
|
|
NM_007194.4(CHEK2):c.1360_1361insCA (p.Glu454fs)
|
rs2145793110
|
|
|
NM_007194.4(CHEK2):c.1361A>C (p.Glu454Ala)
|
rs1233346197
|
|
|
NM_007194.4(CHEK2):c.1361_1362del (p.Glu454fs)
|
rs1569111699
|
|
|
NM_007194.4(CHEK2):c.1362A>G (p.Glu454=)
|
rs1057520523
|
|
|
NM_007194.4(CHEK2):c.1362del (p.Val455fs)
|
rs2145793028
|
|
|
NM_007194.4(CHEK2):c.1363G>T (p.Val455Phe)
|
rs2052514206
|
|
|
NM_007194.4(CHEK2):c.1364dup (p.Ser456fs)
|
rs2145792978
|
|
|
NM_007194.4(CHEK2):c.1365C>G (p.Val455=)
|
rs1287444894
|
|
|
NM_007194.4(CHEK2):c.1367C>A (p.Ser456Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1367C>G (p.Ser456Ter)
|
rs876659827
|
|
|
NM_007194.4(CHEK2):c.1368A>T (p.Ser456=)
|
rs1057523229
|
|
|
NM_007194.4(CHEK2):c.1369G>T (p.Glu457Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1371_1372del (p.Lys458fs)
|
rs2052513579
|
|
|
NM_007194.4(CHEK2):c.1374A>C (p.Lys458Asn)
|
rs776093527
|
|
|
NM_007194.4(CHEK2):c.1374_1375inv (p.Lys458_Ala459delinsAsnSer)
|
|
|
|
NM_007194.4(CHEK2):c.1374del (p.Ala459fs)
|
|
|
|
NM_007194.4(CHEK2):c.1375+10T>A
|
|
|
|
NM_007194.4(CHEK2):c.1375+11G>A
|
rs1465649669
|
|
|
NM_007194.4(CHEK2):c.1375+15G>C
|
|
|
|
NM_007194.4(CHEK2):c.1375+16G>A
|
rs776700371
|
|
|
NM_007194.4(CHEK2):c.1375+17G>A
|
rs1257877166
|
|
|
NM_007194.4(CHEK2):c.1375+17del
|
rs1191159078
|
|
|
NM_007194.4(CHEK2):c.1375+18T>C
|
|
|
|
NM_007194.4(CHEK2):c.1375+19T>G
|
|
|
|
NM_007194.4(CHEK2):c.1375+1G>A
|
rs759706360
|
|
|
NM_007194.4(CHEK2):c.1375+1G>C
|
rs759706360
|
|
|
NM_007194.4(CHEK2):c.1375+1G>T
|
|
|
|
NM_007194.4(CHEK2):c.1375+1_1375+2del
|
rs876660801
|
|
|
NM_007194.4(CHEK2):c.1375+1del
|
|
|
|
NM_007194.4(CHEK2):c.1375+1delinsTTTCA
|
|
|
|
NM_007194.4(CHEK2):c.1375+2T>C
|
rs1483241325
|
|
|
NM_007194.4(CHEK2):c.1375+2T>G
|
|
|
|
NM_007194.4(CHEK2):c.1375+2_1375+15del
|
|
|
|
NM_007194.4(CHEK2):c.1375+2_1375+3insTTCA
|
|
|
|
NM_007194.4(CHEK2):c.1375+3A>G
|
rs876659868
|
|
|
NM_007194.4(CHEK2):c.1375+7A>G
|
rs2052512171
|
|
|
NM_007194.4(CHEK2):c.1375+9A>G
|
rs2145792496
|
|
|
NM_007194.4(CHEK2):c.1375G>A (p.Ala459Thr)
|
rs769729382
|
|
|
NM_007194.4(CHEK2):c.1375G>T (p.Ala459Ser)
|
rs769729382
|
|
|
NM_007194.4(CHEK2):c.1376-11T>C
|
|
|
|
NM_007194.4(CHEK2):c.1376-13A>T
|
rs1064793330
|
|
|
NM_007194.4(CHEK2):c.1376-15C>G
|
rs2145786950
|
|
|
NM_007194.4(CHEK2):c.1376-16C>A
|
|
|
|
NM_007194.4(CHEK2):c.1376-16C>T
|
|
|
|
NM_007194.4(CHEK2):c.1376-17C>G
|
rs2145786984
|
|
|
NM_007194.4(CHEK2):c.1376-19T>C
|
rs2052474956
|
|
|
NM_007194.4(CHEK2):c.1376-1G>A
|
rs876659287
|
|
|
NM_007194.4(CHEK2):c.1376-1G>C
|
rs876659287
|
|
|
NM_007194.4(CHEK2):c.1376-27C>G
|
|
|
|
NM_007194.4(CHEK2):c.1376-2A>G
|
rs2145786737
|
|
|
NM_007194.4(CHEK2):c.1376-4T>G
|
rs1601716727
|
|
|
NM_007194.4(CHEK2):c.1376-6C>T
|
rs2052474528
|
|
|
NM_007194.4(CHEK2):c.1376-8T>C
|
rs550845289
|
|
|
NM_007194.4(CHEK2):c.1376C>T (p.Ala459Val)
|
|
|
|
NM_007194.4(CHEK2):c.1377T>C (p.Ala459=)
|
rs786201296
|
|
|
NM_007194.4(CHEK2):c.1378C>G (p.Leu460Val)
|
rs876659512
|
|
|
NM_007194.4(CHEK2):c.1378del (p.Leu460fs)
|
|
|
|
NM_007194.4(CHEK2):c.1379T>C (p.Leu460Pro)
|
rs1569110510
|
|
|
NM_007194.4(CHEK2):c.1379del (p.Leu460fs)
|
rs2145786618
|
|
|
NM_007194.4(CHEK2):c.1380G>A (p.Leu460=)
|
rs2145786561
|
|
|
NM_007194.4(CHEK2):c.1380G>C (p.Leu460=)
|
|
|
|
NM_007194.4(CHEK2):c.1380G>T (p.Leu460=)
|
|
|
|
NM_007194.4(CHEK2):c.1381G>A (p.Asp461Asn)
|
|
|
|
NM_007194.4(CHEK2):c.1381G>C (p.Asp461His)
|
rs2052473783
|
|
|
NM_007194.4(CHEK2):c.1382A>C (p.Asp461Ala)
|
rs1555913188
|
|
|
NM_007194.4(CHEK2):c.1382A>G (p.Asp461Gly)
|
rs1555913188
|
|
|
NM_007194.4(CHEK2):c.1383C>A (p.Asp461Glu)
|
|
|
|
NM_007194.4(CHEK2):c.1384C>G (p.Leu462Val)
|
rs751228409
|
|
|
NM_007194.4(CHEK2):c.1384C>T (p.Leu462Phe)
|
rs751228409
|
|
|
NM_007194.4(CHEK2):c.1385T>A (p.Leu462His)
|
rs2052473264
|
|
|
NM_007194.4(CHEK2):c.1385T>C (p.Leu462Pro)
|
rs2052473264
|
|
|
NM_007194.4(CHEK2):c.1385T>G (p.Leu462Arg)
|
|
|
|
NM_007194.4(CHEK2):c.1387G>A (p.Val463Ile)
|
|
|
|
NM_007194.4(CHEK2):c.1387G>C (p.Val463Leu)
|
|
|
|
NM_007194.4(CHEK2):c.1387G>T (p.Val463Phe)
|
rs1555913172
|
|
|
NM_007194.4(CHEK2):c.1388T>A (p.Val463Asp)
|
|
|
|
NM_007194.4(CHEK2):c.1388T>C (p.Val463Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1389C>G (p.Val463=)
|
|
|
|
NM_007194.4(CHEK2):c.138G>A (p.Met46Ile)
|
rs876660873
|
|
|
NM_007194.4(CHEK2):c.1390AAG[1] (p.Lys465del)
|
rs2145786206
|
|
|
NM_007194.4(CHEK2):c.1392G>A (p.Lys464=)
|
rs764396738
|
|
|
NM_007194.4(CHEK2):c.1392G>T (p.Lys464Asn)
|
rs764396738
|
|
|
NM_007194.4(CHEK2):c.1393A>T (p.Lys465Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1394A>G (p.Lys465Arg)
|
|
|
|
NM_007194.4(CHEK2):c.1395G>A (p.Lys465=)
|
rs1601716508
|
|
|
NM_007194.4(CHEK2):c.1396T>G (p.Leu466Val)
|
rs1569110400
|
|
|
NM_007194.4(CHEK2):c.1396TTG[1] (p.Leu467del)
|
rs876658456
|
|
|
NM_007194.4(CHEK2):c.1398del (p.Leu466fs)
|
|
|
|
NM_007194.4(CHEK2):c.1399T>C (p.Leu467=)
|
|
|
|
NM_007194.4(CHEK2):c.13T>G (p.Ser5Ala)
|
rs1601854328
|
|
|
NM_007194.4(CHEK2):c.1400T>A (p.Leu467Ter)
|
rs1555913161
|
|
|
NM_007194.4(CHEK2):c.1400T>C (p.Leu467Ser)
|
rs1555913161
|
|
|
NM_007194.4(CHEK2):c.1400T>G (p.Leu467Trp)
|
rs1555913161
|
|
|
NM_007194.4(CHEK2):c.1400del (p.Leu467fs)
|
rs2052472184
|
|
|
NM_007194.4(CHEK2):c.1401G>C (p.Leu467Phe)
|
rs876658908
|
|
|
NM_007194.4(CHEK2):c.1402G>A (p.Val468Ile)
|
rs876660084
|
|
|
NM_007194.4(CHEK2):c.1404A>G (p.Val468=)
|
rs2145785904
|
|
|
NM_007194.4(CHEK2):c.1404_1407delinsT (p.Val469del)
|
rs1569110334
|
|
|
NM_007194.4(CHEK2):c.1405G>A (p.Val469Met)
|
rs730881692
|
|
|
NM_007194.4(CHEK2):c.1406T>A (p.Val469Glu)
|
rs763344790
|
|
|
NM_007194.4(CHEK2):c.1406T>C (p.Val469Ala)
|
rs763344790
|
|
|
NM_007194.4(CHEK2):c.1406T>G (p.Val469Gly)
|
rs763344790
|
|
|
NM_007194.4(CHEK2):c.1408G>C (p.Asp470His)
|
rs876658449
|
|
|
NM_007194.4(CHEK2):c.1408G>T (p.Asp470Tyr)
|
rs876658449
|
|
|
NM_007194.4(CHEK2):c.1411C>A (p.Pro471Thr)
|
rs2052470634
|
|
|
NM_007194.4(CHEK2):c.1411C>T (p.Pro471Ser)
|
rs2052470634
|
|
|
NM_007194.4(CHEK2):c.1412C>T (p.Pro471Leu)
|
rs1060502713
|
|
|
NM_007194.4(CHEK2):c.1414A>C (p.Lys472Gln)
|
rs2052470344
|
|
|
NM_007194.4(CHEK2):c.1414A>G (p.Lys472Glu)
|
rs2052470344
|
|
|
NM_007194.4(CHEK2):c.1415A>G (p.Lys472Arg)
|
rs1064793511
|
|
|
NM_007194.4(CHEK2):c.1415del (p.Lys472fs)
|
|
|
|
NM_007194.4(CHEK2):c.1417G>A (p.Ala473Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del)
|
rs876659422
|
|
|
NM_007194.4(CHEK2):c.1418C>G (p.Ala473Gly)
|
rs1060502685
|
|
|
NM_007194.4(CHEK2):c.1418C>T (p.Ala473Val)
|
rs1060502685
|
|
|
NM_007194.4(CHEK2):c.141A>G (p.Pro47=)
|
|
|
|
NM_007194.4(CHEK2):c.1420C>A (p.Arg474Ser)
|
rs540635787
|
|
|
NM_007194.4(CHEK2):c.1420C>G (p.Arg474Gly)
|
rs540635787
|
|
|
NM_007194.4(CHEK2):c.1420del (p.Arg474fs)
|
rs2145785415
|
|
|
NM_007194.4(CHEK2):c.1421G>T (p.Arg474Leu)
|
rs121908706
|
|
|
NM_007194.4(CHEK2):c.1425T>C (p.Phe475=)
|
rs1601716189
|
|
|
NM_007194.4(CHEK2):c.1426A>C (p.Thr476Pro)
|
rs2052468962
|
|
|
NM_007194.4(CHEK2):c.1427C>A (p.Thr476Lys)
|
rs142763740
|
|
|
NM_007194.4(CHEK2):c.1427C>G (p.Thr476Arg)
|
rs142763740
|
|
|
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.1430C>G (p.Thr477Arg)
|
rs762488591
|
|
|
NM_007194.4(CHEK2):c.1430C>T (p.Thr477Ile)
|
rs762488591
|
|
|
NM_007194.4(CHEK2):c.1430del (p.Thr477fs)
|
rs2052468526
|
|
|
NM_007194.4(CHEK2):c.1431A>C (p.Thr477=)
|
rs2052468226
|
|
|
NM_007194.4(CHEK2):c.1432G>T (p.Glu478Ter)
|
rs2145784977
|
|
|
NM_007194.4(CHEK2):c.1433A>T (p.Glu478Val)
|
rs2052468103
|
|
|
NM_007194.4(CHEK2):c.1433AAG[1] (p.Glu479del)
|
rs1555913104
|
|
|
NM_007194.4(CHEK2):c.1434del (p.Glu479fs)
|
rs786202601
|
|
|
NM_007194.4(CHEK2):c.1435G>T (p.Glu479Ter)
|
rs1555913106
|
|
|
NM_007194.4(CHEK2):c.1436A>G (p.Glu479Gly)
|
|
|
|
NM_007194.4(CHEK2):c.1436A>T (p.Glu479Val)
|
rs1464731405
|
|
|
NM_007194.4(CHEK2):c.1437A>C (p.Glu479Asp)
|
|
|
|
NM_007194.4(CHEK2):c.1437A>G (p.Glu479=)
|
|
|
|
NM_007194.4(CHEK2):c.1437_1446del (p.Glu479fs)
|
|
|
|
NM_007194.4(CHEK2):c.1439C>G (p.Ala480Gly)
|
rs786203303
|
|
|
NM_007194.4(CHEK2):c.1439C>T (p.Ala480Val)
|
rs786203303
|
|
|
NM_007194.4(CHEK2):c.1442T>G (p.Leu481Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1442_1443del (p.Ala480_Leu481insTer)
|
|
|
|
NM_007194.4(CHEK2):c.1442del (p.Ala480_Leu481insTer)
|
|
|
|
NM_007194.4(CHEK2):c.1443_1444del (p.Arg482fs)
|
rs1555913094
|
|
|
NM_007194.4(CHEK2):c.1443_1458dup (p.Gln487fs)
|
|
|
|
NM_007194.4(CHEK2):c.1444A>T (p.Arg482Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1445G>A (p.Arg482Lys)
|
rs1555913090
|
|
|
NM_007194.4(CHEK2):c.1446A>G (p.Arg482=)
|
rs2145784530
|
|
|
NM_007194.4(CHEK2):c.1447C>A (p.His483Asn)
|
|
|
|
NM_007194.4(CHEK2):c.1447C>T (p.His483Tyr)
|
rs786203490
|
|
|
NM_007194.4(CHEK2):c.1448A>T (p.His483Leu)
|
|
|
|
NM_007194.4(CHEK2):c.1448dup (p.His483fs)
|
|
|
|
NM_007194.4(CHEK2):c.1449C>G (p.His483Gln)
|
rs1555913081
|
|
|
NM_007194.4(CHEK2):c.1449C>T (p.His483=)
|
rs1555913081
|
|
|
NM_007194.4(CHEK2):c.1450C>G (p.Pro484Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1450C>T (p.Pro484Ser)
|
rs548850521
|
|
|
NM_007194.4(CHEK2):c.1451C>G (p.Pro484Arg)
|
rs564605612
|
|
|
NM_007194.4(CHEK2):c.1451del (p.Pro484fs)
|
rs1555913078
|
|
|
NM_007194.4(CHEK2):c.1452G>C (p.Pro484=)
|
|
|
|
NM_007194.4(CHEK2):c.1452del (p.Trp485fs)
|
rs2145784297
|
|
|
NM_007194.4(CHEK2):c.1453T>A (p.Trp485Arg)
|
rs786202244
|
|
|
NM_007194.4(CHEK2):c.1453T>C (p.Trp485Arg)
|
rs786202244
|
|
|
NM_007194.4(CHEK2):c.1453T>G (p.Trp485Gly)
|
|
|
|
NM_007194.4(CHEK2):c.1454G>A (p.Trp485Ter)
|
rs1199577809
|
|
|
NM_007194.4(CHEK2):c.1454G>C (p.Trp485Ser)
|
|
|
|
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter)
|
rs1601715852
|
|
|
NM_007194.4(CHEK2):c.1455del (p.Trp485fs)
|
|
|
|
NM_007194.4(CHEK2):c.1455dup (p.Leu486fs)
|
rs1601715865
|
|
|
NM_007194.4(CHEK2):c.1457T>C (p.Leu486Pro)
|
rs1569109928
|
|
|
NM_007194.4(CHEK2):c.1457T>G (p.Leu486Arg)
|
|
|
|
NM_007194.4(CHEK2):c.1458T>G (p.Leu486=)
|
rs1601715824
|
|
|
NM_007194.4(CHEK2):c.145T>C (p.Ser49Pro)
|
rs756991701
|
|
|
NM_007194.4(CHEK2):c.1460A>G (p.Gln487Arg)
|
rs1601715793
|
|
|
NM_007194.4(CHEK2):c.1461+10G>A
|
rs1060504696
|
|
|
NM_007194.4(CHEK2):c.1461+11G>C
|
|
|
|
NM_007194.4(CHEK2):c.1461+11G>T
|
|
|
|
NM_007194.4(CHEK2):c.1461+12A>G
|
rs886057328
|
|
|
NM_007194.4(CHEK2):c.1461+17G>A
|
rs1458355639
|
|
|
NM_007194.4(CHEK2):c.1461+19dup
|
rs2145783568
|
|
|
NM_007194.4(CHEK2):c.1461+1G>A
|
rs886039629
|
|
|
NM_007194.4(CHEK2):c.1461+1G>C
|
rs886039629
|
|
|
NM_007194.4(CHEK2):c.1461+1G>T
|
rs886039629
|
|
|
NM_007194.4(CHEK2):c.1461+1del
|
|
|
|
NM_007194.4(CHEK2):c.1461+2301G>T
|
|
|
|
NM_007194.4(CHEK2):c.1461+2T>C
|
rs779844113
|
|
|
NM_007194.4(CHEK2):c.1461+2del
|
rs1601715755
|
|
|
NM_007194.4(CHEK2):c.1461+3G>C
|
rs1555913067
|
|
|
NM_007194.4(CHEK2):c.1461+4G>C
|
rs1057522400
|
|
|
NM_007194.4(CHEK2):c.1461+5G>A
|
rs769841229
|
|
|
NM_007194.4(CHEK2):c.1461+5G>C
|
rs769841229
|
|
|
NM_007194.4(CHEK2):c.1461+5G>T
|
rs769841229
|
|
|
NM_007194.4(CHEK2):c.1461+6T>A
|
rs1064795915
|
|
|
NM_007194.4(CHEK2):c.1461+6T>C
|
rs1064795915
|
|
|
NM_007194.4(CHEK2):c.1461+7G>A
|
rs2145783810
|
|
|
NM_007194.4(CHEK2):c.1461+7G>T
|
rs2145783810
|
|
|
NM_007194.4(CHEK2):c.1461+8T>C
|
rs1057521960
|
|
|
NM_007194.4(CHEK2):c.1461+9G>T
|
rs2145783750
|
|
|
NM_007194.4(CHEK2):c.1461G>A (p.Gln487=)
|
rs1060502701
|
|
|
NM_007194.4(CHEK2):c.1461G>C (p.Gln487His)
|
rs1060502701
|
|
|
NM_007194.4(CHEK2):c.1462-12A>T
|
|
|
|
NM_007194.4(CHEK2):c.1462-13A>C
|
|
|
|
NM_007194.4(CHEK2):c.1462-18T>C
|
rs1555912108
|
|
|
NM_007194.4(CHEK2):c.1462-19G>A
|
|
|
|
NM_007194.4(CHEK2):c.1462-1_1542+2del
|
rs2145747944
|
|
|
NM_007194.4(CHEK2):c.1462-2A>G
|
rs587782575
|
|
|
NM_007194.4(CHEK2):c.1462-2del
|
|
|
|
NM_007194.4(CHEK2):c.1462-3C>G
|
rs876658673
|
|
|
NM_007194.4(CHEK2):c.1462-3C>T
|
rs876658673
|
|
|
NM_007194.4(CHEK2):c.1462-5C>G
|
rs1601702602
|
|
|
NM_007194.4(CHEK2):c.1462-5C>T
|
rs1601702602
|
|
|
NM_007194.4(CHEK2):c.1462-8C>A
|
rs2145751049
|
|
|
NM_007194.4(CHEK2):c.1462-9C>T
|
rs2145751069
|
|
|
NM_007194.4(CHEK2):c.1462G>C (p.Asp488His)
|
rs886041173
|
|
|
NM_007194.4(CHEK2):c.1462G>T (p.Asp488Tyr)
|
rs886041173
|
|
|
NM_007194.4(CHEK2):c.1463A>T (p.Asp488Val)
|
|
|
|
NM_007194.4(CHEK2):c.1464T>G (p.Asp488Glu)
|
|
|
|
NM_007194.4(CHEK2):c.1465G>A (p.Glu489Lys)
|
|
|
|
NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter)
|
rs1420382294
|
|
|
NM_007194.4(CHEK2):c.146C>T (p.Ser49Phe)
|
rs730881694
|
|
|
NM_007194.4(CHEK2):c.1471A>C (p.Met491Leu)
|
rs1555912088
|
|
|
NM_007194.4(CHEK2):c.1471A>G (p.Met491Val)
|
rs1555912088
|
|
|
NM_007194.4(CHEK2):c.1471A>T (p.Met491Leu)
|
rs1555912088
|
|
|
NM_007194.4(CHEK2):c.1472T>A (p.Met491Lys)
|
rs1601702472
|
|
|
NM_007194.4(CHEK2):c.1472T>G (p.Met491Arg)
|
rs1601702472
|
|
|
NM_007194.4(CHEK2):c.1473del (p.Met491fs)
|
|
|
|
NM_007194.4(CHEK2):c.1475A>C (p.Lys492Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1475A>G (p.Lys492Arg)
|
rs2145750566
|
|
|
NM_007194.4(CHEK2):c.1476_1480del (p.Arg493fs)
|
rs2145750415
|
|
|
NM_007194.4(CHEK2):c.1477A>G (p.Arg493Gly)
|
rs1601702436
|
|
|
NM_007194.4(CHEK2):c.1478G>C (p.Arg493Thr)
|
rs1569104499
|
|
|
NM_007194.4(CHEK2):c.1479A>T (p.Arg493Ser)
|
rs1601702414
|
|
|
NM_007194.4(CHEK2):c.1481A>G (p.Lys494Arg)
|
rs1601702380
|
|
|
NM_007194.4(CHEK2):c.1481A>T (p.Lys494Met)
|
rs1601702380
|
|
|
NM_007194.4(CHEK2):c.1481del (p.Lys494fs)
|
rs2052247122
|
|
|
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn)
|
rs767043399
|
|
|
NM_007194.4(CHEK2):c.1485T>C (p.Phe495=)
|
rs2145750188
|
|
|
NM_007194.4(CHEK2):c.1485del (p.Gln496fs)
|
|
|
|
NM_007194.4(CHEK2):c.1486C>A (p.Gln496Lys)
|
rs756250205
|
|
|
NM_007194.4(CHEK2):c.1486C>G (p.Gln496Glu)
|
rs756250205
|
|
|
NM_007194.4(CHEK2):c.1487A>C (p.Gln496Pro)
|
rs2145750109
|
|
|
NM_007194.4(CHEK2):c.1488del (p.Asp497fs)
|
|
|
|
NM_007194.4(CHEK2):c.148A>C (p.Ser50Arg)
|
rs1569171013
|
|
|
NM_007194.4(CHEK2):c.1490A>G (p.Asp497Gly)
|
|
|
|
NM_007194.4(CHEK2):c.1490A>T (p.Asp497Val)
|
rs549945536
|
|
|
NM_007194.4(CHEK2):c.1491TCT[1] (p.Leu499del)
|
rs1555912044
|
|
|
NM_007194.4(CHEK2):c.1492C>G (p.Leu498Val)
|
|
|
|
NM_007194.4(CHEK2):c.1492C>T (p.Leu498Phe)
|
rs2052245756
|
|
|
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs)
|
rs1555912044
|
|
|
NM_007194.4(CHEK2):c.1492del (p.Leu498fs)
|
rs2052245881
|
|
|
NM_007194.4(CHEK2):c.1493T>C (p.Leu498Pro)
|
rs2052245637
|
|
|
NM_007194.4(CHEK2):c.1495C>A (p.Leu499Met)
|
rs2145749845
|
|
|
NM_007194.4(CHEK2):c.1495del (p.Leu499fs)
|
|
|
|
NM_007194.4(CHEK2):c.1496T>C (p.Leu499Pro)
|
rs761750423
|
|
|
NM_007194.4(CHEK2):c.1497G>A (p.Leu499=)
|
rs587780890
|
|
|
NM_007194.4(CHEK2):c.1498T>A (p.Ser500Thr)
|
|
|
|
NM_007194.4(CHEK2):c.1498_1501del (p.Ser500fs)
|
|
|
|
NM_007194.4(CHEK2):c.1499C>G (p.Ser500Cys)
|
|
|
|
NM_007194.4(CHEK2):c.1499_1523del (p.Ser500fs)
|
rs2145748708
|
|
|
NM_007194.4(CHEK2):c.149del (p.Ser50fs)
|
|
|
|
NM_007194.4(CHEK2):c.14C>A (p.Ser5Ter)
|
|
|
|
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.1500_1501delinsAT (p.Glu501Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1501del (p.Glu501fs)
|
rs1131691045
|
|
|
NM_007194.4(CHEK2):c.1502A>G (p.Glu501Gly)
|
|
|
|
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.1504G>A (p.Glu502Lys)
|
rs1601702068
|
|
|
NM_007194.4(CHEK2):c.1505A>G (p.Glu502Gly)
|
rs1060502682
|
|
|
NM_007194.4(CHEK2):c.1506A>G (p.Glu502=)
|
rs1555912021
|
|
|
NM_007194.4(CHEK2):c.1507A>G (p.Asn503Asp)
|
rs2052243352
|
|
|
NM_007194.4(CHEK2):c.1508A>C (p.Asn503Thr)
|
rs1555912017
|
|
|
NM_007194.4(CHEK2):c.1508A>G (p.Asn503Ser)
|
rs1555912017
|
|
|
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.1513T>A (p.Ser505Thr)
|
rs587781960
|
|
|
NM_007194.4(CHEK2):c.1513T>G (p.Ser505Ala)
|
rs587781960
|
|
|
NM_007194.4(CHEK2):c.1516A>C (p.Thr506Pro)
|
rs1555912010
|
|
|
NM_007194.4(CHEK2):c.1516A>G (p.Thr506Ala)
|
rs1555912010
|
|
|
NM_007194.4(CHEK2):c.1517C>G (p.Thr506Arg)
|
rs1398732281
|
|
|
NM_007194.4(CHEK2):c.1517C>T (p.Thr506Ile)
|
rs1398732281
|
|
|
NM_007194.4(CHEK2):c.151C>A (p.Gln51Lys)
|
rs587781592
|
|
|
NM_007194.4(CHEK2):c.151C>G (p.Gln51Glu)
|
rs587781592
|
|
|
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter)
|
rs587781592
|
|
|
NM_007194.4(CHEK2):c.1520_1523dup (p.Pro509fs)
|
rs2145748685
|
|
|
NM_007194.4(CHEK2):c.1521T>C (p.Ala507=)
|
rs1057522770
|
|
|
NM_007194.4(CHEK2):c.1521_1524dup (p.Pro509fs)
|
|
|
|
NM_007194.4(CHEK2):c.1522C>T (p.Leu508=)
|
rs876660898
|
|
|
NM_007194.4(CHEK2):c.1522del (p.Leu508fs)
|
|
|
|
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs)
|
rs1555912001
|
|
|
NM_007194.4(CHEK2):c.1523T>C (p.Leu508Pro)
|
rs1338238773
|
|
|
NM_007194.4(CHEK2):c.1527C>G (p.Pro509=)
|
|
|
|
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.1528dup (p.Gln510fs)
|
rs2052240942
|
|
|
NM_007194.4(CHEK2):c.1529A>G (p.Gln510Arg)
|
rs1601701772
|
|
|
NM_007194.4(CHEK2):c.152A>C (p.Gln51Pro)
|
rs2054325722
|
|
|
NM_007194.4(CHEK2):c.152A>G (p.Gln51Arg)
|
rs2054325722
|
|
|
NM_007194.4(CHEK2):c.152_155dup (p.Ser53fs)
|
rs1555932481
|
|
|
NM_007194.4(CHEK2):c.152del (p.Gln51fs)
|
|
|
|
NM_007194.4(CHEK2):c.1530G>C (p.Gln510His)
|
rs1569104011
|
|
|
NM_007194.4(CHEK2):c.1531G>A (p.Val511Ile)
|
rs1601701749
|
|
|
NM_007194.4(CHEK2):c.1531G>T (p.Val511Phe)
|
|
|
|
NM_007194.4(CHEK2):c.1533T>G (p.Val511=)
|
rs2145748251
|
|
|
NM_007194.4(CHEK2):c.1533del (p.Val511_Leu512insTer)
|
rs2145748275
|
|
|
NM_007194.4(CHEK2):c.1534C>T (p.Leu512=)
|
|
|
|
NM_007194.4(CHEK2):c.1537G>A (p.Ala513Thr)
|
rs2052240121
|
|
|
NM_007194.4(CHEK2):c.1537G>T (p.Ala513Ser)
|
|
|
|
NM_007194.4(CHEK2):c.1538C>T (p.Ala513Val)
|
|
|
|
NM_007194.4(CHEK2):c.1539C>G (p.Ala513=)
|
rs2145748075
|
|
|
NM_007194.4(CHEK2):c.1539C>T (p.Ala513=)
|
|
|
|
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1540del (p.Gln514fs)
|
rs2145748046
|
|
|
NM_007194.4(CHEK2):c.1542+10T>C
|
rs1601701672
|
|
|
NM_007194.4(CHEK2):c.1542+11T>C
|
rs17881716
|
|
|
NM_007194.4(CHEK2):c.1542+11T>G
|
|
|
|
NM_007194.4(CHEK2):c.1542+16A>G
|
rs749728970
|
|
|
NM_007194.4(CHEK2):c.1542+18G>T
|
rs1226931987
|
|
|
NM_007194.4(CHEK2):c.1542+1G>A
|
|
|
|
NM_007194.4(CHEK2):c.1542+20T>G
|
|
|
|
NM_007194.4(CHEK2):c.1542+3A>G
|
rs1060502722
|
|
|
NM_007194.4(CHEK2):c.1542+6C>G
|
rs1414780425
|
|
|
NM_007194.4(CHEK2):c.1542+7G>A
|
rs4035547
|
|
|
NM_007194.4(CHEK2):c.1542+7G>T
|
|
|
|
NM_007194.4(CHEK2):c.1542G>C (p.Gln514His)
|
rs747797219
|
|
|
NM_007194.4(CHEK2):c.1542G>T (p.Gln514His)
|
rs747797219
|
|
|
NM_007194.4(CHEK2):c.1543-10T>C
|
rs1555911654
|
|
|
NM_007194.4(CHEK2):c.1543-10T>G
|
rs1555911654
|
|
|
NM_007194.4(CHEK2):c.1543-11_1543-2del
|
rs2145739661
|
|
|
NM_007194.4(CHEK2):c.1543-12C>G
|
rs1555911657
|
|
|
NM_007194.4(CHEK2):c.1543-12C>T
|
|
|
|
NM_007194.4(CHEK2):c.1543-13C>T
|
|
|
|
NM_007194.4(CHEK2):c.1543-14dup
|
rs2145739856
|
|
|
NM_007194.4(CHEK2):c.1543-1G>A
|
rs2052190289
|
|
|
NM_007194.4(CHEK2):c.1543-1G>C
|
rs2052190289
|
|
|
NM_007194.4(CHEK2):c.1543-1G>T
|
|
|
|
NM_007194.4(CHEK2):c.1543-2A>C
|
rs1160973224
|
|
|
NM_007194.4(CHEK2):c.1543-2A>G
|
|
|
|
NM_007194.4(CHEK2):c.1543-3C>G
|
rs759366945
|
|
|
NM_007194.4(CHEK2):c.1543-44_1581del
|
|
|
|
NM_007194.4(CHEK2):c.1543-4T>C
|
rs2145739718
|
|
|
NM_007194.4(CHEK2):c.1543-7T>C
|
|
|
|
NM_007194.4(CHEK2):c.1543-9_1546del
|
rs1555911638
|
|
|
NM_007194.4(CHEK2):c.1543C>A (p.Pro515Thr)
|
rs1399879170
|
|
|
NM_007194.4(CHEK2):c.1544C>T (p.Pro515Leu)
|
rs2052189910
|
|
|
NM_007194.4(CHEK2):c.1544del (p.Pro515fs)
|
rs1555911640
|
|
|
NM_007194.4(CHEK2):c.1545T>A (p.Pro515=)
|
|
|
|
NM_007194.4(CHEK2):c.1545T>G (p.Pro515=)
|
rs1601698296
|
|
|
NM_007194.4(CHEK2):c.1546T>C (p.Ser516Pro)
|
|
|
|
NM_007194.4(CHEK2):c.1546del (p.Ser516fs)
|
rs1555911636
|
|
|
NM_007194.4(CHEK2):c.1546dup (p.Ser516fs)
|
rs1555911636
|
|
|
NM_007194.4(CHEK2):c.1547C>T (p.Ser516Phe)
|
rs1601698243
|
|
|
NM_007194.4(CHEK2):c.1547CTA[1] (p.Thr517del)
|
rs1555911626
|
|
|
NM_007194.4(CHEK2):c.1547del (p.Ser516fs)
|
rs1555911635
|
|
|
NM_007194.4(CHEK2):c.1548T>C (p.Ser516=)
|
rs2145739425
|
|
|
NM_007194.4(CHEK2):c.1548_1565del (p.Thr517_Pro522del)
|
rs2052186431
|
|
|
NM_007194.4(CHEK2):c.1549A>G (p.Thr517Ala)
|
rs1555911631
|
|
|
NM_007194.4(CHEK2):c.1549A>T (p.Thr517Ser)
|
rs1555911631
|
|
|
NM_007194.4(CHEK2):c.154T>A (p.Ser52Thr)
|
rs2054325597
|
|
|
NM_007194.4(CHEK2):c.154del (p.Ser52fs)
|
|
|
|
NM_007194.4(CHEK2):c.1550C>T (p.Thr517Ile)
|
rs1555911629
|
|
|
NM_007194.4(CHEK2):c.1551T>A (p.Thr517=)
|
rs2145739341
|
|
|
NM_007194.4(CHEK2):c.1551T>C (p.Thr517=)
|
|
|
|
NM_007194.4(CHEK2):c.1552A>C (p.Ser518Arg)
|
rs753560465
|
|
|
NM_007194.4(CHEK2):c.1553G>A (p.Ser518Asn)
|
|
|
|
NM_007194.4(CHEK2):c.1555C>G (p.Arg519Gly)
|
|
|
|
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.1557A>C (p.Arg519=)
|
rs1555911615
|
|
|
NM_007194.4(CHEK2):c.1558A>C (p.Lys520Gln)
|
rs1555911613
|
|
|
NM_007194.4(CHEK2):c.1558A>G (p.Lys520Glu)
|
|
|
|
NM_007194.4(CHEK2):c.1558_1559insC (p.Lys520fs)
|
rs876658646
|
|
|
NM_007194.4(CHEK2):c.1559del (p.Lys520fs)
|
rs2145739112
|
|
|
NM_007194.4(CHEK2):c.1559dup (p.Arg521fs)
|
|
|
|
NM_007194.4(CHEK2):c.155C>A (p.Ser52Tyr)
|
rs778214603
|
|
|
NM_007194.4(CHEK2):c.1560G>A (p.Lys520=)
|
rs1601698058
|
|
|
NM_007194.4(CHEK2):c.1560G>C (p.Lys520Asn)
|
rs1601698058
|
|
|
NM_007194.4(CHEK2):c.1561C>G (p.Arg521Gly)
|
rs533475838
|
|
|
NM_007194.4(CHEK2):c.1561del (p.Arg521fs)
|
rs2052187374
|
|
|
NM_007194.4(CHEK2):c.1562G>T (p.Arg521Leu)
|
rs373959274
|
|
|
NM_007194.4(CHEK2):c.1563del (p.Arg523fs)
|
rs786202339
|
|
|
NM_007194.4(CHEK2):c.1563dup (p.Pro522fs)
|
|
|
|
NM_007194.4(CHEK2):c.1564C>G (p.Pro522Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1564C>T (p.Pro522Ser)
|
|
|
|
NM_007194.4(CHEK2):c.1565C>A (p.Pro522His)
|
|
|
|
NM_007194.4(CHEK2):c.1567C>A (p.Arg523Ser)
|
rs149501505
|
|
|
NM_007194.4(CHEK2):c.1567C>G (p.Arg523Gly)
|
rs149501505
|
|
|
NM_007194.4(CHEK2):c.1567del (p.Arg523fs)
|
rs587782684
|
|
|
NM_007194.4(CHEK2):c.1567dup (p.Arg523fs)
|
rs587782684
|
|
|
NM_007194.4(CHEK2):c.1568G>T (p.Arg523Leu)
|
rs948928965
|
|
|
NM_007194.4(CHEK2):c.1569T>A (p.Arg523=)
|
rs748954413
|
|
|
NM_007194.4(CHEK2):c.1569_1582dup (p.Glu528fs)
|
rs2145738171
|
|
|
NM_007194.4(CHEK2):c.156C>T (p.Ser52=)
|
rs1555932466
|
|
|
NM_007194.4(CHEK2):c.1570G>A (p.Glu524Lys)
|
rs876658872
|
|
|
NM_007194.4(CHEK2):c.1572del (p.Glu526fs)
|
rs2052185743
|
|
|
NM_007194.4(CHEK2):c.1573G>C (p.Gly525Arg)
|
rs780512032
|
|
|
NM_007194.4(CHEK2):c.1574G>A (p.Gly525Glu)
|
rs1212728170
|
|
|
NM_007194.4(CHEK2):c.1575G>A (p.Gly525=)
|
rs770307891
|
|
|
NM_007194.4(CHEK2):c.1575G>C (p.Gly525=)
|
rs770307891
|
|
|
NM_007194.4(CHEK2):c.1576G>A (p.Glu526Lys)
|
rs1555911587
|
|
|
NM_007194.4(CHEK2):c.1576G>T (p.Glu526Ter)
|
rs1555911587
|
|
|
NM_007194.4(CHEK2):c.1576_1577delinsAG (p.Glu526Arg)
|
|
|
|
NM_007194.4(CHEK2):c.1576_1586del (p.Glu526fs)
|
|
|
|
NM_007194.4(CHEK2):c.1576del (p.Glu526fs)
|
|
|
|
NM_007194.4(CHEK2):c.1577A>C (p.Glu526Ala)
|
|
|
|
NM_007194.4(CHEK2):c.1578_1581del (p.Ala527fs)
|
|
|
|
NM_007194.4(CHEK2):c.1579G>T (p.Ala527Ser)
|
rs1555911583
|
|
|
NM_007194.4(CHEK2):c.157T>G (p.Ser53Ala)
|
rs371657037
|
|
|
NM_007194.4(CHEK2):c.1580C>T (p.Ala527Val)
|
rs1601697744
|
|
|
NM_007194.4(CHEK2):c.1581C>A (p.Ala527=)
|
rs781593101
|
|
|
NM_007194.4(CHEK2):c.1581del (p.Glu528fs)
|
rs2145738231
|
|
|
NM_007194.4(CHEK2):c.1582G>C (p.Glu528Gln)
|
rs138040612
|
|
|
NM_007194.4(CHEK2):c.1582G>T (p.Glu528Ter)
|
rs138040612
|
|
|
NM_007194.4(CHEK2):c.1583_1602dup (p.Pro536fs)
|
rs2145737506
|
|
|
NM_007194.4(CHEK2):c.1585G>A (p.Gly529Ser)
|
|
|
|
NM_007194.4(CHEK2):c.1587T>C (p.Gly529=)
|
rs1601697668
|
|
|
NM_007194.4(CHEK2):c.1588G>A (p.Ala530Thr)
|
rs1444665408
|
|
|
NM_007194.4(CHEK2):c.158C>T (p.Ser53Phe)
|
rs753204096
|
|
|
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.1591G>C (p.Glu531Gln)
|
rs587781710
|
|
|
NM_007194.4(CHEK2):c.1591G>T (p.Glu531Ter)
|
rs587781710
|
|
|
NM_007194.4(CHEK2):c.1592A>G (p.Glu531Gly)
|
rs1569102183
|
|
|
NM_007194.4(CHEK2):c.1596C>A (p.Thr532=)
|
rs2145737656
|
|
|
NM_007194.4(CHEK2):c.1596del (p.Thr533fs)
|
rs587781519
|
|
|
NM_007194.4(CHEK2):c.1598C>G (p.Thr533Arg)
|
rs1569102119
|
|
|
NM_007194.4(CHEK2):c.1598C>T (p.Thr533Ile)
|
|
|
|
NM_007194.4(CHEK2):c.159_160del (p.His54fs)
|
rs2054324732
|
|
|
NM_007194.4(CHEK2):c.1600A>C (p.Lys534Gln)
|
rs1555911558
|
|
|
NM_007194.4(CHEK2):c.1600A>G (p.Lys534Glu)
|
rs1555911558
|
|
|
NM_007194.4(CHEK2):c.1602G>A (p.Lys534=)
|
rs1569102099
|
|
|
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys)
|
rs576248104
|
|
|
NM_007194.4(CHEK2):c.1607C>T (p.Pro536Leu)
|
rs1601697447
|
|
|
NM_007194.4(CHEK2):c.1607del (p.Pro536fs)
|
rs1555911551
|
|
|
NM_007194.4(CHEK2):c.1610C>A (p.Ala537Asp)
|
rs1064795821
|
|
|
NM_007194.4(CHEK2):c.1610C>T (p.Ala537Val)
|
rs1064795821
|
|
|
NM_007194.4(CHEK2):c.1610del (p.Ala537fs)
|
|
|
|
NM_007194.4(CHEK2):c.1611T>A (p.Ala537=)
|
rs1057521299
|
|
|
NM_007194.4(CHEK2):c.1612G>A (p.Val538Met)
|
rs1064794950
|
|
|
NM_007194.4(CHEK2):c.1612G>T (p.Val538Leu)
|
rs1064794950
|
|
|
NM_007194.4(CHEK2):c.1614G>A (p.Val538=)
|
rs750337711
|
|
|
NM_007194.4(CHEK2):c.1616G>A (p.Cys539Tyr)
|
rs1569101993
|
|
|
NM_007194.4(CHEK2):c.1616G>T (p.Cys539Phe)
|
rs1569101993
|
|
|
NM_007194.4(CHEK2):c.1616_1627dup (p.Cys539_Val542dup)
|
rs1569101939
|
|
|
NM_007194.4(CHEK2):c.1617T>C (p.Cys539=)
|
|
|
|
NM_007194.4(CHEK2):c.1618G>A (p.Ala540Thr)
|
rs767414081
|
|
|
NM_007194.4(CHEK2):c.1618G>T (p.Ala540Ser)
|
rs767414081
|
|
|
NM_007194.4(CHEK2):c.1619C>T (p.Ala540Val)
|
rs1569101970
|
|
|
NM_007194.4(CHEK2):c.161_164del (p.His54fs)
|
rs1569170839
|
|
|
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.1624G>A (p.Val542Met)
|
|
|
|
NM_007194.4(CHEK2):c.1625T>C (p.Val542Ala)
|
rs2145736771
|
|
|
NM_007194.4(CHEK2):c.1626G>A (p.Val542=)
|
rs2145736707
|
|
|
NM_007194.4(CHEK2):c.1627T>G (p.Leu543Val)
|
rs2052179967
|
|
|
NM_007194.4(CHEK2):c.1628T>A (p.Leu543Ter)
|
|
|
|
NM_007194.4(CHEK2):c.1628T>C (p.Leu543Ser)
|
rs2145736622
|
|
|
NM_007194.4(CHEK2):c.1629G>A (p.Leu543=)
|
|
|
|
NM_007194.4(CHEK2):c.1630T>C (p.Ter544Arg)
|
rs2052179845
|
|
|
NM_007194.4(CHEK2):c.1630T>G (p.Ter544Gly)
|
rs2052179845
|
|
|
NM_007194.4(CHEK2):c.1632A>T (p.Ter544Cys)
|
|
|
|
NM_007194.4(CHEK2):c.163T>G (p.Ser55Ala)
|
rs1555932427
|
|
|
NM_007194.4(CHEK2):c.164C>G (p.Ser55Cys)
|
rs765799649
|
|
|
NM_007194.4(CHEK2):c.166A>G (p.Ser56Gly)
|
rs1555932413
|
|
|
NM_007194.4(CHEK2):c.167G>C (p.Ser56Thr)
|
rs1255827598
|
|
|
NM_007194.4(CHEK2):c.169T>G (p.Ser57Ala)
|
|
|
|
NM_007194.4(CHEK2):c.16G>C (p.Asp6His)
|
rs1555932944
|
|
|
NM_007194.4(CHEK2):c.16del (p.Asp6fs)
|
rs2146156838
|
|
|
NM_007194.4(CHEK2):c.170C>A (p.Ser57Tyr)
|
rs730881695
|
|
|
NM_007194.4(CHEK2):c.170C>G (p.Ser57Cys)
|
rs730881695
|
|
|
NM_007194.4(CHEK2):c.171T>C (p.Ser57=)
|
rs1555932401
|
|
|
NM_007194.4(CHEK2):c.174G>A (p.Gly58=)
|
rs2146148861
|
|
|
NM_007194.4(CHEK2):c.174del (p.Thr59fs)
|
|
|
|
NM_007194.4(CHEK2):c.175A>G (p.Thr59Ala)
|
|
|
|
NM_007194.4(CHEK2):c.176C>T (p.Thr59Ile)
|
rs149991239
|
|
|
NM_007194.4(CHEK2):c.177A>T (p.Thr59=)
|
rs750143255
|
|
|
NM_007194.4(CHEK2):c.179_180del (p.Leu60fs)
|
|
|
|
NM_007194.4(CHEK2):c.179dup (p.Ser61fs)
|
|
|
|
NM_007194.4(CHEK2):c.17A>C (p.Asp6Ala)
|
|
|
|
NM_007194.4(CHEK2):c.17_18insGGGA (p.Asp6fs)
|
|
|
|
NM_007194.4(CHEK2):c.180G>A (p.Leu60=)
|
rs2146148626
|
|
|
NM_007194.4(CHEK2):c.180G>C (p.Leu60=)
|
|
|
|
NM_007194.4(CHEK2):c.181A>C (p.Ser61Arg)
|
rs766499735
|
|
|
NM_007194.4(CHEK2):c.181A>G (p.Ser61Gly)
|
rs766499735
|
|
|
NM_007194.4(CHEK2):c.181del (p.Ser61fs)
|
rs1601852451
|
|
|
NM_007194.4(CHEK2):c.182G>A (p.Ser61Asn)
|
rs1569170658
|
|
|
NM_007194.4(CHEK2):c.182G>T (p.Ser61Ile)
|
rs1569170658
|
|
|
NM_007194.4(CHEK2):c.183C>A (p.Ser61Arg)
|
rs2054322201
|
|
|
NM_007194.4(CHEK2):c.183C>T (p.Ser61=)
|
|
|
|
NM_007194.4(CHEK2):c.183del (p.Ser62fs)
|
rs2054322279
|
|
|
NM_007194.4(CHEK2):c.184T>C (p.Ser62Pro)
|
rs2146148379
|
|
|
NM_007194.4(CHEK2):c.185C>T (p.Ser62Phe)
|
rs876659424
|
|
|
NM_007194.4(CHEK2):c.186C>T (p.Ser62=)
|
rs786203025
|
|
|
NM_007194.4(CHEK2):c.186del (p.Ser62_Leu63insTer)
|
rs2054322016
|
|
|
NM_007194.4(CHEK2):c.187T>G (p.Leu63Val)
|
|
|
|
NM_007194.4(CHEK2):c.188T>C (p.Leu63Ser)
|
rs878854916
|
|
|
NM_007194.4(CHEK2):c.188del (p.Ser62_Leu63insTer)
|
rs2146148231
|
|
|
NM_007194.4(CHEK2):c.18T>C (p.Asp6=)
|
rs1555932937
|
|
|
NM_007194.4(CHEK2):c.191A>G (p.Glu64Gly)
|
rs1601852334
|
|
|
NM_007194.4(CHEK2):c.191A>T (p.Glu64Val)
|
|
|
|
NM_007194.4(CHEK2):c.193A>G (p.Thr65Ala)
|
rs1308200351
|
|
|
NM_007194.4(CHEK2):c.193A>T (p.Thr65Ser)
|
rs1308200351
|
|
|
NM_007194.4(CHEK2):c.194_195del (p.Thr65fs)
|
rs2054321037
|
|
|
NM_007194.4(CHEK2):c.195A>C (p.Thr65=)
|
rs1411341011
|
|
|
NM_007194.4(CHEK2):c.196G>A (p.Val66Met)
|
rs730881696
|
|
|
NM_007194.4(CHEK2):c.196G>T (p.Val66Leu)
|
|
|
|
NM_007194.4(CHEK2):c.197T>C (p.Val66Ala)
|
rs2054320721
|
|
|
NM_007194.4(CHEK2):c.199T>G (p.Ser67Ala)
|
rs1601852238
|
|
|
NM_007194.4(CHEK2):c.199del (p.Ser67fs)
|
rs2054320626
|
|
|
NM_007194.4(CHEK2):c.19G>A (p.Val7Ile)
|
rs1601854266
|
|
|
NM_007194.4(CHEK2):c.1A>C (p.Met1Leu)
|
rs863224748
|
|
|
NM_007194.4(CHEK2):c.1A>G (p.Met1Val)
|
rs863224748
|
|
|
NM_007194.4(CHEK2):c.1A>T (p.Met1Leu)
|
rs863224748
|
|
|
NM_007194.4(CHEK2):c.1_3delinsTTT (p.Met1Phe)
|
|
|
|
NM_007194.4(CHEK2):c.200C>T (p.Ser67Phe)
|
rs886041171
|
|
|
NM_007194.4(CHEK2):c.201C>T (p.Ser67=)
|
rs111292981
|
|
|
NM_007194.4(CHEK2):c.202A>G (p.Thr68Ala)
|
|
|
|
NM_007194.4(CHEK2):c.203C>T (p.Thr68Ile)
|
|
|
|
NM_007194.4(CHEK2):c.204T>C (p.Thr68=)
|
rs1601852195
|
|
|
NM_007194.4(CHEK2):c.205C>A (p.Gln69Lys)
|
|
|
|
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter)
|
rs768384031
|
|
|
NM_007194.4(CHEK2):c.206A>G (p.Gln69Arg)
|
rs876661109
|
|
|
NM_007194.4(CHEK2):c.206A>T (p.Gln69Leu)
|
rs876661109
|
|
|
NM_007194.4(CHEK2):c.206_207del (p.Gln69fs)
|
|
|
|
NM_007194.4(CHEK2):c.207G>C (p.Gln69His)
|
rs762760523
|
|
|
NM_007194.4(CHEK2):c.208G>T (p.Glu70Ter)
|
rs878854917
|
|
|
NM_007194.4(CHEK2):c.209A>G (p.Glu70Gly)
|
|
|
|
NM_007194.4(CHEK2):c.209_216del (p.Glu70fs)
|
rs2054319272
|
|
|
NM_007194.4(CHEK2):c.211C>T (p.Leu71Phe)
|
rs2054319509
|
|
|
NM_007194.4(CHEK2):c.213C>G (p.Leu71=)
|
rs1057524667
|
|
|
NM_007194.4(CHEK2):c.214_223del (p.Tyr72fs)
|
|
|
|
NM_007194.4(CHEK2):c.215A>C (p.Tyr72Ser)
|
rs769819013
|
|
|
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)
|
rs587781705
|
|
|
NM_007194.4(CHEK2):c.217T>C (p.Ser73Pro)
|
rs2054319079
|
|
|
NM_007194.4(CHEK2):c.218C>G (p.Ser73Cys)
|
rs2054318997
|
|
|
NM_007194.4(CHEK2):c.219_223del (p.Ser73_Ile74insTer)
|
rs766416564
|
|
|
NM_007194.4(CHEK2):c.222T>C (p.Ile74=)
|
rs876659629
|
|
|
NM_007194.4(CHEK2):c.222del (p.Pro75fs)
|
rs2146147030
|
|
|
NM_007194.4(CHEK2):c.225T>C (p.Pro75=)
|
|
|
|
NM_007194.4(CHEK2):c.226G>A (p.Glu76Lys)
|
rs1601852018
|
|
|
NM_007194.4(CHEK2):c.226G>C (p.Glu76Gln)
|
rs1601852018
|
|
|
NM_007194.4(CHEK2):c.229G>A (p.Asp77Asn)
|
rs2146146789
|
|
|
NM_007194.4(CHEK2):c.22G>T (p.Glu8Ter)
|
|
|
|
NM_007194.4(CHEK2):c.230A>T (p.Asp77Val)
|
rs1555932352
|
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[3] (p.77DQEPE[3])
|
rs587780181
|
|
|
NM_007194.4(CHEK2):c.233A>G (p.Gln78Arg)
|
|
|
|
NM_007194.4(CHEK2):c.233_234del (p.Gln78fs)
|
rs2146146624
|
|
|
NM_007194.4(CHEK2):c.234_262del (p.Gln78fs)
|
rs2054316045
|
|
|
NM_007194.4(CHEK2):c.235G>T (p.Glu79Ter)
|
|
|
|
NM_007194.4(CHEK2):c.238C>T (p.Pro80Ser)
|
rs745355600
|
|
|
NM_007194.4(CHEK2):c.239C>A (p.Pro80His)
|
rs876659006
|
|
|
NM_007194.4(CHEK2):c.240T>G (p.Pro80=)
|
rs878854918
|
|
|
NM_007194.4(CHEK2):c.241G>T (p.Glu81Ter)
|
|
|
|
NM_007194.4(CHEK2):c.243G>A (p.Glu81=)
|
rs1060504690
|
|
|
NM_007194.4(CHEK2):c.246C>A (p.Asp82Glu)
|
|
|
|
NM_007194.4(CHEK2):c.247C>T (p.Gln83Ter)
|
rs1555932326
|
|
|
NM_007194.4(CHEK2):c.247del (p.Gln83fs)
|
rs587782766
|
|
|
NM_007194.4(CHEK2):c.249A>G (p.Gln83=)
|
rs776271158
|
|
|
NM_007194.4(CHEK2):c.24G>A (p.Glu8=)
|
rs780920036
|
|
|
NM_007194.4(CHEK2):c.24G>C (p.Glu8Asp)
|
rs780920036
|
|
|
NM_007194.4(CHEK2):c.250G>T (p.Glu84Ter)
|
|
|
|
NM_007194.4(CHEK2):c.252del (p.Glu84fs)
|
rs1601851875
|
|
|
NM_007194.4(CHEK2):c.253C>A (p.Pro85Thr)
|
rs1366081066
|
|
|
NM_007194.4(CHEK2):c.254C>A (p.Pro85His)
|
rs17883862
|
|
|
NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg)
|
rs17883862
|
|
|
NM_007194.4(CHEK2):c.254del (p.Pro85fs)
|
|
|
|
NM_007194.4(CHEK2):c.256G>A (p.Glu86Lys)
|
rs551930027
|
|
|
NM_007194.4(CHEK2):c.258G>A (p.Glu86=)
|
rs1201436179
|
|
|
NM_007194.4(CHEK2):c.258G>T (p.Glu86Asp)
|
rs1201436179
|
|
|
NM_007194.4(CHEK2):c.259G>A (p.Glu87Lys)
|
|
|
|
NM_007194.4(CHEK2):c.25G>A (p.Ala9Thr)
|
rs757530141
|
|
|
NM_007194.4(CHEK2):c.261G>A (p.Glu87=)
|
rs2146145556
|
|
|
NM_007194.4(CHEK2):c.263del (p.Pro88fs)
|
|
|
|
NM_007194.4(CHEK2):c.264dup (p.Thr89fs)
|
|
|
|
NM_007194.4(CHEK2):c.265A>C (p.Thr89Pro)
|
|
|
|
NM_007194.4(CHEK2):c.265_270del (p.Thr89_Pro90del)
|
rs1064793085
|
|
|
NM_007194.4(CHEK2):c.266C>A (p.Thr89Asn)
|
rs1601851716
|
|
|
NM_007194.4(CHEK2):c.266C>T (p.Thr89Ile)
|
rs1601851716
|
|
|
NM_007194.4(CHEK2):c.267C>T (p.Thr89=)
|
rs1601851707
|
|
|
NM_007194.4(CHEK2):c.267_268insT (p.Pro90fs)
|
rs2054315696
|
|
|
NM_007194.4(CHEK2):c.268C>A (p.Pro90Thr)
|
rs777588170
|
|
|
NM_007194.4(CHEK2):c.268C>T (p.Pro90Ser)
|
rs777588170
|
|
|
NM_007194.4(CHEK2):c.269C>G (p.Pro90Arg)
|
|
|
|
NM_007194.4(CHEK2):c.269del (p.Pro90fs)
|
rs1555932231
|
|
|
NM_007194.4(CHEK2):c.269dup (p.Ala91fs)
|
rs1555932231
|
|
|
NM_007194.4(CHEK2):c.26C>G (p.Ala9Gly)
|
rs1456931393
|
|
|
NM_007194.4(CHEK2):c.26C>T (p.Ala9Val)
|
rs1456931393
|
|
|
NM_007194.4(CHEK2):c.270dup (p.Ala91fs)
|
|
|
|
NM_007194.4(CHEK2):c.271G>C (p.Ala91Pro)
|
rs2146145205
|
|
|
NM_007194.4(CHEK2):c.271_272dup (p.Trp93fs)
|
|
|
|
NM_007194.4(CHEK2):c.271del (p.Ala91fs)
|
|
|
|
NM_007194.4(CHEK2):c.272C>A (p.Ala91Asp)
|
rs748559775
|
|
|
NM_007194.4(CHEK2):c.272C>T (p.Ala91Val)
|
rs748559775
|
|
|
NM_007194.4(CHEK2):c.274C>A (p.Pro92Thr)
|
rs1555932172
|
|
|
NM_007194.4(CHEK2):c.274C>T (p.Pro92Ser)
|
rs1555932172
|
|
|
NM_007194.4(CHEK2):c.275C>G (p.Pro92Arg)
|
rs779269031
|
|
|
NM_007194.4(CHEK2):c.275_287delinsTCAGG (p.Pro92fs)
|
|
|
|
NM_007194.4(CHEK2):c.276C>G (p.Pro92=)
|
rs1478388236
|
|
|
NM_007194.4(CHEK2):c.276del (p.Trp93fs)
|
rs876661156
|
|
|
NM_007194.4(CHEK2):c.276dup (p.Trp93fs)
|
rs876661156
|
|
|
NM_007194.4(CHEK2):c.277T>A (p.Trp93Arg)
|
rs730881697
|
|
|
NM_007194.4(CHEK2):c.277T>C (p.Trp93Arg)
|
rs730881697
|
|
|
NM_007194.4(CHEK2):c.277del (p.Trp93fs)
|
rs786203458
|
|
|
NM_007194.4(CHEK2):c.278G>A (p.Trp93Ter)
|
rs786203889
|
|
|
NM_007194.4(CHEK2):c.278G>C (p.Trp93Ser)
|
rs786203889
|
|
|
NM_007194.4(CHEK2):c.279G>C (p.Trp93Cys)
|
|
|
|
NM_007194.4(CHEK2):c.279G>T (p.Trp93Cys)
|
rs587782070
|
|
|
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.280G>C (p.Ala94Pro)
|
rs753860983
|
|
|
NM_007194.4(CHEK2):c.281C>T (p.Ala94Val)
|
rs2054313946
|
|
|
NM_007194.4(CHEK2):c.282T>C (p.Ala94=)
|
rs786202279
|
|
|
NM_007194.4(CHEK2):c.282del (p.Arg95fs)
|
rs1064795959
|
|
|
NM_007194.4(CHEK2):c.283C>G (p.Arg95Gly)
|
rs587781269
|
|
|
NM_007194.4(CHEK2):c.283_288del (p.Arg95_Leu96del)
|
rs2146144505
|
|
|
NM_007194.4(CHEK2):c.284G>A (p.Arg95Gln)
|
rs750596499
|
|
|
NM_007194.4(CHEK2):c.284G>C (p.Arg95Pro)
|
rs750596499
|
|
|
NM_007194.4(CHEK2):c.284G>T (p.Arg95Leu)
|
rs750596499
|
|
|
NM_007194.4(CHEK2):c.286T>C (p.Leu96=)
|
rs1555932127
|
|
|
NM_007194.4(CHEK2):c.287T>G (p.Leu96Ter)
|
|
|
|
NM_007194.4(CHEK2):c.288A>T (p.Leu96Phe)
|
rs767758092
|
|
|
NM_007194.4(CHEK2):c.288_289dup (p.Trp97fs)
|
|
|
|
NM_007194.4(CHEK2):c.289T>C (p.Trp97Arg)
|
rs2054312729
|
|
|
NM_007194.4(CHEK2):c.290G>A (p.Trp97Ter)
|
|
|
|
NM_007194.4(CHEK2):c.291G>A (p.Trp97Ter)
|
rs2054312626
|
|
|
NM_007194.4(CHEK2):c.292del (p.Ala98fs)
|
rs1555932116
|
|
|
NM_007194.4(CHEK2):c.293C>T (p.Ala98Val)
|
rs1601851270
|
|
|
NM_007194.4(CHEK2):c.294C>G (p.Ala98=)
|
rs1555932111
|
|
|
NM_007194.4(CHEK2):c.294C>T (p.Ala98=)
|
rs1555932111
|
|
|
NM_007194.4(CHEK2):c.295del (p.Leu99fs)
|
rs1601851248
|
|
|
NM_007194.4(CHEK2):c.296T>A (p.Leu99His)
|
rs786201193
|
|
|
NM_007194.4(CHEK2):c.296T>G (p.Leu99Arg)
|
rs786201193
|
|
|
NM_007194.4(CHEK2):c.298C>T (p.Gln100Ter)
|
rs2054311767
|
|
|
NM_007194.4(CHEK2):c.299A>G (p.Gln100Arg)
|
rs1601851194
|
|
|
NM_007194.4(CHEK2):c.299A>T (p.Gln100Leu)
|
|
|
|
NM_007194.4(CHEK2):c.299del (p.Gln100fs)
|
|
|
|
NM_007194.4(CHEK2):c.29A>C (p.Gln10Pro)
|
|
|
|
NM_007194.4(CHEK2):c.29A>T (p.Gln10Leu)
|
rs2146156178
|
|
|
NM_007194.4(CHEK2):c.2T>A (p.Met1Lys)
|
|
|
|
NM_007194.4(CHEK2):c.300G>A (p.Gln100=)
|
rs1456691189
|
|
|
NM_007194.4(CHEK2):c.301G>C (p.Asp101His)
|
|
|
|
NM_007194.4(CHEK2):c.301G>T (p.Asp101Tyr)
|
rs786203283
|
|
|
NM_007194.4(CHEK2):c.302A>G (p.Asp101Gly)
|
rs1569169879
|
|
|
NM_007194.4(CHEK2):c.303T>A (p.Asp101Glu)
|
rs1569169871
|
|
|
NM_007194.4(CHEK2):c.304G>A (p.Gly102Arg)
|
rs876659833
|
|
|
NM_007194.4(CHEK2):c.304G>T (p.Gly102Ter)
|
rs876659833
|
|
|
NM_007194.4(CHEK2):c.304_307del (p.Gly102fs)
|
rs1555932071
|
|
|
NM_007194.4(CHEK2):c.305G>C (p.Gly102Ala)
|
rs1555932082
|
|
|
NM_007194.4(CHEK2):c.305G>T (p.Gly102Val)
|
rs1555932082
|
|
|
NM_007194.4(CHEK2):c.305del (p.Gly102fs)
|
rs2054311111
|
|
|
NM_007194.4(CHEK2):c.306A>G (p.Gly102=)
|
rs1601851122
|
|
|
NM_007194.4(CHEK2):c.308T>C (p.Phe103Ser)
|
rs876658140
|
|
|
NM_007194.4(CHEK2):c.309_318dup (p.Glu107delinsCysGlnSerTer)
|
|
|
|
NM_007194.4(CHEK2):c.310G>C (p.Ala104Pro)
|
rs1601851066
|
|
|
NM_007194.4(CHEK2):c.310G>T (p.Ala104Ser)
|
rs1601851066
|
|
|
NM_007194.4(CHEK2):c.313A>C (p.Asn105His)
|
rs1010061908
|
|
|
NM_007194.4(CHEK2):c.315T>G (p.Asn105Lys)
|
rs1555932027
|
|
|
NM_007194.4(CHEK2):c.315del (p.Glu107fs)
|
|
|
|
NM_007194.4(CHEK2):c.316C>G (p.Leu106Val)
|
rs1060502691
|
|
|
NM_007194.4(CHEK2):c.317T>C (p.Leu106Pro)
|
rs1601850987
|
|
|
NM_007194.4(CHEK2):c.317T>G (p.Leu106Arg)
|
rs1601850987
|
|
|
NM_007194.4(CHEK2):c.318del (p.Glu107fs)
|
|
|
|
NM_007194.4(CHEK2):c.319+13G>A
|
rs2146142990
|
|
|
NM_007194.4(CHEK2):c.319+16G>T
|
|
|
|
NM_007194.4(CHEK2):c.319+17T>C
|
rs770423802
|
|
|
NM_007194.4(CHEK2):c.319+18A>G
|
|
|
|
NM_007194.4(CHEK2):c.319+1G>C
|
rs765080766
|
|
|
NM_007194.4(CHEK2):c.319+1G>T
|
rs765080766
|
|
|
NM_007194.4(CHEK2):c.319+1del
|
|
|
|
NM_007194.4(CHEK2):c.319+20A>G
|
|
|
|
NM_007194.4(CHEK2):c.319+2T>C
|
|
|
|
NM_007194.4(CHEK2):c.319+2T>G
|
rs587782401
|
|
|
NM_007194.4(CHEK2):c.319+3851G>T
|
rs1601841500
|
|
|
NM_007194.4(CHEK2):c.319+3965C>T
|
rs766676371
|
|
|
NM_007194.4(CHEK2):c.319+3980C>T
|
rs1045958480
|
|
|
NM_007194.4(CHEK2):c.319+39dup
|
rs3841692
|
|
|
NM_007194.4(CHEK2):c.319+3A>T
|
rs1569169765
|
|
|
NM_007194.4(CHEK2):c.319+4A>G
|
|
|
|
NM_007194.4(CHEK2):c.319+5G>T
|
rs730881698
|
|
|
NM_007194.4(CHEK2):c.319+7C>A
|
rs1057522753
|
|
|
NM_007194.4(CHEK2):c.319+7C>G
|
rs1057522753
|
|
|
NM_007194.4(CHEK2):c.319+7C>T
|
rs1057522753
|
|
|
NM_007194.4(CHEK2):c.319+8C>A
|
rs776443322
|
|
|
NM_007194.4(CHEK2):c.319+8C>G
|
rs776443322
|
|
|
NM_007194.4(CHEK2):c.319+9C>T
|
rs772600733
|
|
|
NM_007194.4(CHEK2):c.319+9del
|
|
|
|
NM_007194.4(CHEK2):c.319G>C (p.Glu107Gln)
|
|
|
|
NM_007194.4(CHEK2):c.319G>T (p.Glu107Ter)
|
|
|
|
NM_007194.4(CHEK2):c.31C>G (p.Gln11Glu)
|
rs1349961118
|
|
|
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)
|
rs1349961118
|
|
|
NM_007194.4(CHEK2):c.31dup (p.Gln11fs)
|
rs1555932913
|
|
|
NM_007194.4(CHEK2):c.320-11_320-10dup
|
|
|
|
NM_007194.4(CHEK2):c.320-14C>T
|
rs2146072517
|
|
|
NM_007194.4(CHEK2):c.320-16T>A
|
|
|
|
NM_007194.4(CHEK2):c.320-17A>G
|
|
|
|
NM_007194.4(CHEK2):c.320-1G>A
|
|
|
|
NM_007194.4(CHEK2):c.320-1G>C
|
rs864622613
|
|
|
NM_007194.4(CHEK2):c.320-1G>T
|
rs864622613
|
|
|
NM_007194.4(CHEK2):c.320-20T>C
|
rs1048802612
|
|
|
NM_007194.4(CHEK2):c.320-2A>G
|
rs1336652138
|
|
|
NM_007194.4(CHEK2):c.320-2A>T
|
|
|
|
NM_007194.4(CHEK2):c.320-2del
|
|
|
|
NM_007194.4(CHEK2):c.320-3970_454del
|
|
|
|
NM_007194.4(CHEK2):c.320-3970_455del
|
|
|
|
NM_007194.4(CHEK2):c.320-3C>A
|
rs863224749
|
|
|
NM_007194.4(CHEK2):c.320-3C>G
|
rs863224749
|
|
|
NM_007194.4(CHEK2):c.320-3C>T
|
|
|
|
NM_007194.4(CHEK2):c.320-3_320del
|
|
|
|
NM_007194.4(CHEK2):c.320-4A>G
|
rs2146072244
|
|
|
NM_007194.4(CHEK2):c.320-5T>C
|
rs121908700
|
|
|
NM_007194.4(CHEK2):c.320-7A>C
|
rs1555927424
|
|
|
NM_007194.4(CHEK2):c.320-7A>G
|
rs1555927424
|
|
|
NM_007194.4(CHEK2):c.320-9A>C
|
|
|
|
NM_007194.4(CHEK2):c.320-?_*(1_?)dup
|
|
|
|
NM_007194.4(CHEK2):c.320A>G (p.Glu107Gly)
|
rs1569159156
|
|
|
NM_007194.4(CHEK2):c.320A>T (p.Glu107Val)
|
|
|
|
NM_007194.4(CHEK2):c.321A>T (p.Glu107Asp)
|
|
|
|
NM_007194.4(CHEK2):c.321_324del (p.Glu107_Cys108insTer)
|
rs2053967484
|
|
|
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg)
|
rs730881681
|
|
|
NM_007194.4(CHEK2):c.323G>A (p.Cys108Tyr)
|
rs1555927408
|
|
|
NM_007194.4(CHEK2):c.323G>C (p.Cys108Ser)
|
|
|
|
NM_007194.4(CHEK2):c.324T>A (p.Cys108Ter)
|
|
|
|
NM_007194.4(CHEK2):c.325G>A (p.Val109Met)
|
rs1569159114
|
|
|
NM_007194.4(CHEK2):c.325G>C (p.Val109Leu)
|
rs1569159114
|
|
|
NM_007194.4(CHEK2):c.326_327del (p.Val109fs)
|
rs1555927398
|
|
|
NM_007194.4(CHEK2):c.328A>C (p.Asn110His)
|
|
|
|
NM_007194.4(CHEK2):c.328A>G (p.Asn110Asp)
|
rs878854919
|
|
|
NM_007194.4(CHEK2):c.329A>C (p.Asn110Thr)
|
rs1060502700
|
|
|
NM_007194.4(CHEK2):c.329A>G (p.Asn110Ser)
|
rs1060502700
|
|
|
NM_007194.4(CHEK2):c.32A>C (p.Gln11Pro)
|
rs369256181
|
|
|
NM_007194.4(CHEK2):c.32_35del (p.Gln11fs)
|
rs2146155758
|
|
|
NM_007194.4(CHEK2):c.331G>T (p.Asp111Tyr)
|
rs1569159072
|
|
|
NM_007194.4(CHEK2):c.332A>G (p.Asp111Gly)
|
rs2053966685
|
|
|
NM_007194.4(CHEK2):c.334_336del (p.Asn112del)
|
rs1569159061
|
|
|
NM_007194.4(CHEK2):c.335_341del (p.Asn112fs)
|
|
|
|
NM_007194.4(CHEK2):c.335_342delinsCACATTCACACA (p.Asn112fs)
|
|
|
|
NM_007194.4(CHEK2):c.336C>G (p.Asn112Lys)
|
rs1060502689
|
|
|
NM_007194.4(CHEK2):c.336C>T (p.Asn112=)
|
|
|
|
NM_007194.4(CHEK2):c.337T>C (p.Tyr113His)
|
rs1601826109
|
|
|
NM_007194.4(CHEK2):c.338A>C (p.Tyr113Ser)
|
rs770343235
|
|
|
NM_007194.4(CHEK2):c.338A>G (p.Tyr113Cys)
|
rs770343235
|
|
|
NM_007194.4(CHEK2):c.338A>T (p.Tyr113Phe)
|
|
|
|
NM_007194.4(CHEK2):c.338_358delinsG (p.Tyr113fs)
|
rs2053964098
|
|
|
NM_007194.4(CHEK2):c.339C>A (p.Tyr113Ter)
|
|
|
|
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter)
|
rs905674348
|
|
|
NM_007194.4(CHEK2):c.339C>T (p.Tyr113=)
|
rs905674348
|
|
|
NM_007194.4(CHEK2):c.339del (p.Trp114fs)
|
|
|
|
NM_007194.4(CHEK2):c.33G>C (p.Gln11His)
|
|
|
|
NM_007194.4(CHEK2):c.33del (p.Gln11fs)
|
rs2146155911
|
|
|
NM_007194.4(CHEK2):c.340T>C (p.Trp114Arg)
|
rs1555927378
|
|
|
NM_007194.4(CHEK2):c.340T>G (p.Trp114Gly)
|
rs1555927378
|
|
|
NM_007194.4(CHEK2):c.341G>A (p.Trp114Ter)
|
rs1555927374
|
|
|
NM_007194.4(CHEK2):c.341G>T (p.Trp114Leu)
|
rs1555927374
|
|
|
NM_007194.4(CHEK2):c.342G>C (p.Trp114Cys)
|
rs756949505
|
|
|
NM_007194.4(CHEK2):c.342G>T (p.Trp114Cys)
|
rs756949505
|
|
|
NM_007194.4(CHEK2):c.343T>A (p.Phe115Ile)
|
rs1060502695
|
|
|
NM_007194.4(CHEK2):c.343T>G (p.Phe115Val)
|
rs1060502695
|
|
|
NM_007194.4(CHEK2):c.344T>C (p.Phe115Ser)
|
rs1060502706
|
|
|
NM_007194.4(CHEK2):c.344T>G (p.Phe115Cys)
|
rs1060502706
|
|
|
NM_007194.4(CHEK2):c.347G>A (p.Gly116Glu)
|
rs745943179
|
|
|
NM_007194.4(CHEK2):c.349A>T (p.Arg117Trp)
|
|
|
|
NM_007194.4(CHEK2):c.349del (p.Arg117fs)
|
rs2146071079
|
|
|
NM_007194.4(CHEK2):c.350G>T (p.Arg117Met)
|
rs587781982
|
|
|
NM_007194.4(CHEK2):c.351G>A (p.Arg117=)
|
rs2053964612
|
|
|
NM_007194.4(CHEK2):c.352G>A (p.Asp118Asn)
|
rs2053964532
|
|
|
NM_007194.4(CHEK2):c.352G>T (p.Asp118Tyr)
|
rs2053964532
|
|
|
NM_007194.4(CHEK2):c.353A>G (p.Asp118Gly)
|
rs1555927328
|
|
|
NM_007194.4(CHEK2):c.353A>T (p.Asp118Val)
|
|
|
|
NM_007194.4(CHEK2):c.353del (p.Asp118fs)
|
|
|
|
NM_007194.4(CHEK2):c.354C>G (p.Asp118Glu)
|
rs757340619
|
|
|
NM_007194.4(CHEK2):c.354del (p.Asp118fs)
|
|
|
|
NM_007194.4(CHEK2):c.355A>C (p.Lys119Gln)
|
rs2053964255
|
|
|
NM_007194.4(CHEK2):c.355A>G (p.Lys119Glu)
|
rs2053964255
|
|
|
NM_007194.4(CHEK2):c.358A>C (p.Ser120Arg)
|
rs1601825853
|
|
|
NM_007194.4(CHEK2):c.359_373del (p.Ser120_Phe125delinsIle)
|
|
|
|
NM_007194.4(CHEK2):c.359del (p.Ser120fs)
|
rs2146070648
|
|
|
NM_007194.4(CHEK2):c.35C>G (p.Ser12Cys)
|
rs1166395498
|
|
|
NM_007194.4(CHEK2):c.360C>T (p.Ser120=)
|
rs2053963800
|
|
|
NM_007194.4(CHEK2):c.360del (p.Cys121fs)
|
rs1601825829
|
|
|
NM_007194.4(CHEK2):c.361T>C (p.Cys121Arg)
|
rs1356801901
|
|
|
NM_007194.4(CHEK2):c.361del (p.Cys121fs)
|
rs2146070522
|
|
|
NM_007194.4(CHEK2):c.362G>A (p.Cys121Tyr)
|
rs777887044
|
|
|
NM_007194.4(CHEK2):c.362G>T (p.Cys121Phe)
|
rs777887044
|
|
|
NM_007194.4(CHEK2):c.363T>A (p.Cys121Ter)
|
rs1209379774
|
|
|
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer)
|
rs1555927312
|
|
|
NM_007194.4(CHEK2):c.364G>C (p.Glu122Gln)
|
|
|
|
NM_007194.4(CHEK2):c.364_369del (p.Glu122_Tyr123del)
|
|
|
|
NM_007194.4(CHEK2):c.364del (p.Glu122fs)
|
rs786203355
|
|
|
NM_007194.4(CHEK2):c.365A>G (p.Glu122Gly)
|
|
|
|
NM_007194.4(CHEK2):c.366A>G (p.Glu122=)
|
rs1331351515
|
|
|
NM_007194.4(CHEK2):c.366del (p.Glu122fs)
|
rs1555927302
|
|
|
NM_007194.4(CHEK2):c.367T>A (p.Tyr123Asn)
|
|
|
|
NM_007194.4(CHEK2):c.368_382del (p.Tyr123_Pro128delinsSer)
|
rs2146069470
|
|
|
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.370T>C (p.Cys124Arg)
|
rs2053962902
|
|
|
NM_007194.4(CHEK2):c.371G>C (p.Cys124Ser)
|
rs754768271
|
|
|
NM_007194.4(CHEK2):c.371_372delinsAG (p.Cys124Ter)
|
|
|
|
NM_007194.4(CHEK2):c.372C>G (p.Cys124Trp)
|
rs1555927291
|
|
|
NM_007194.4(CHEK2):c.372del (p.Phe125fs)
|
rs876661050
|
|
|
NM_007194.4(CHEK2):c.374T>C (p.Phe125Ser)
|
rs1064794677
|
|
|
NM_007194.4(CHEK2):c.375T>A (p.Phe125Leu)
|
|
|
|
NM_007194.4(CHEK2):c.375del (p.Phe125fs)
|
|
|
|
NM_007194.4(CHEK2):c.376G>C (p.Asp126His)
|
|
|
|
NM_007194.4(CHEK2):c.376G>T (p.Asp126Tyr)
|
rs1192210146
|
|
|
NM_007194.4(CHEK2):c.377A>C (p.Asp126Ala)
|
|
|
|
NM_007194.4(CHEK2):c.377A>G (p.Asp126Gly)
|
rs864622541
|
|
|
NM_007194.4(CHEK2):c.37C>A (p.His13Asn)
|
rs1601854066
|
|
|
NM_007194.4(CHEK2):c.382C>A (p.Pro128Thr)
|
rs1555927281
|
|
|
NM_007194.4(CHEK2):c.382_383delinsTT (p.Pro128Leu)
|
rs2053961832
|
|
|
NM_007194.4(CHEK2):c.383del (p.Pro128fs)
|
rs1569158776
|
|
|
NM_007194.4(CHEK2):c.384A>T (p.Pro128=)
|
rs766409666
|
|
|
NM_007194.4(CHEK2):c.386T>C (p.Leu129Pro)
|
rs1555927266
|
|
|
NM_007194.4(CHEK2):c.387G>A (p.Leu129=)
|
rs560046142
|
|
|
NM_007194.4(CHEK2):c.388C>T (p.Leu130=)
|
rs1057522274
|
|
|
NM_007194.4(CHEK2):c.389T>A (p.Leu130Gln)
|
|
|
|
NM_007194.4(CHEK2):c.389T>C (p.Leu130Pro)
|
rs150677496
|
|
|
NM_007194.4(CHEK2):c.38A>G (p.His13Arg)
|
rs1064793324
|
|
|
NM_007194.4(CHEK2):c.390G>A (p.Leu130=)
|
rs1057522435
|
|
|
NM_007194.4(CHEK2):c.391A>T (p.Lys131Ter)
|
rs1275395933
|
|
|
NM_007194.4(CHEK2):c.392A>G (p.Lys131Arg)
|
rs1569158689
|
|
|
NM_007194.4(CHEK2):c.393A>G (p.Lys131=)
|
rs2146068876
|
|
|
NM_007194.4(CHEK2):c.393_397del (p.Lys131fs)
|
|
|
|
NM_007194.4(CHEK2):c.394del (p.Arg132fs)
|
|
|
|
NM_007194.4(CHEK2):c.395G>A (p.Arg132Lys)
|
rs750393263
|
|
|
NM_007194.4(CHEK2):c.395G>T (p.Arg132Ile)
|
rs750393263
|
|
|
NM_007194.4(CHEK2):c.396A>G (p.Arg132=)
|
rs1601825496
|
|
|
NM_007194.4(CHEK2):c.396A>T (p.Arg132Ser)
|
|
|
|
NM_007194.4(CHEK2):c.397A>G (p.Thr133Ala)
|
rs1060502703
|
|
|
NM_007194.4(CHEK2):c.397del (p.Thr133fs)
|
rs2053960596
|
|
|
NM_007194.4(CHEK2):c.397dup (p.Thr133fs)
|
|
|
|
NM_007194.4(CHEK2):c.398C>G (p.Thr133Arg)
|
|
|
|
NM_007194.4(CHEK2):c.398C>T (p.Thr133Ile)
|
rs1346472987
|
|
|
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile)
|
rs786203977
|
|
|
NM_007194.4(CHEK2):c.3G>T (p.Met1Ile)
|
rs786203977
|
|
|
NM_007194.4(CHEK2):c.400G>A (p.Asp134Asn)
|
|
|
|
NM_007194.4(CHEK2):c.400_401del (p.Thr133_Asp134insTer)
|
rs1569158640
|
|
|
NM_007194.4(CHEK2):c.400_403del (p.Asp134fs)
|
rs2146068388
|
|
|
NM_007194.4(CHEK2):c.401A>G (p.Asp134Gly)
|
rs1404473412
|
|
|
NM_007194.4(CHEK2):c.401A>T (p.Asp134Val)
|
rs1404473412
|
|
|
NM_007194.4(CHEK2):c.402_407del (p.Lys135_Tyr136del)
|
rs2053959611
|
|
|
NM_007194.4(CHEK2):c.402delinsAA (p.Asp134fs)
|
|
|
|
NM_007194.4(CHEK2):c.403A>G (p.Lys135Glu)
|
rs1601825425
|
|
|
NM_007194.4(CHEK2):c.405del (p.Lys135fs)
|
rs730881699
|
|
|
NM_007194.4(CHEK2):c.406T>A (p.Tyr136Asn)
|
|
|
|
NM_007194.4(CHEK2):c.406T>C (p.Tyr136His)
|
rs1555927222
|
|
|
NM_007194.4(CHEK2):c.406T>G (p.Tyr136Asp)
|
rs1555927222
|
|
|
NM_007194.4(CHEK2):c.407A>G (p.Tyr136Cys)
|
rs1569158606
|
|
|
NM_007194.4(CHEK2):c.408C>A (p.Tyr136Ter)
|
rs911826883
|
|
|
NM_007194.4(CHEK2):c.408C>G (p.Tyr136Ter)
|
rs911826883
|
|
|
NM_007194.4(CHEK2):c.409C>G (p.Arg137Gly)
|
rs730881701
|
|
|
NM_007194.4(CHEK2):c.409_410delinsTC (p.Arg137Ser)
|
rs876658143
|
|
|
NM_007194.4(CHEK2):c.409_417del (p.Arg137_Tyr139del)
|
rs786203325
|
|
|
NM_007194.4(CHEK2):c.409_427del (p.Arg137fs)
|
|
|
|
NM_007194.4(CHEK2):c.40G>A (p.Gly14Ser)
|
rs1601854043
|
|
|
NM_007194.4(CHEK2):c.410G>C (p.Arg137Pro)
|
|
|
|
NM_007194.4(CHEK2):c.410G>T (p.Arg137Leu)
|
rs368570187
|
|
|
NM_007194.4(CHEK2):c.411A>C (p.Arg137=)
|
rs1060504695
|
|
|
NM_007194.4(CHEK2):c.412A>G (p.Thr138Ala)
|
rs1555927202
|
|
|
NM_007194.4(CHEK2):c.413C>A (p.Thr138Lys)
|
|
|
|
NM_007194.4(CHEK2):c.413C>G (p.Thr138Arg)
|
|
|
|
NM_007194.4(CHEK2):c.413C>T (p.Thr138Ile)
|
rs1555927196
|
|
|
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.415T>A (p.Tyr139Asn)
|
rs730881703
|
|
|
NM_007194.4(CHEK2):c.415T>C (p.Tyr139His)
|
rs730881703
|
|
|
NM_007194.4(CHEK2):c.415T>G (p.Tyr139Asp)
|
rs730881703
|
|
|
NM_007194.4(CHEK2):c.415_417del (p.Tyr139del)
|
|
|
|
NM_007194.4(CHEK2):c.415dup (p.Tyr139fs)
|
|
|
|
NM_007194.4(CHEK2):c.416A>G (p.Tyr139Cys)
|
rs587780182
|
|
|
NM_007194.4(CHEK2):c.416A>T (p.Tyr139Phe)
|
|
|
|
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)
|
rs200917541
|
|
|
NM_007194.4(CHEK2):c.417C>G (p.Tyr139Ter)
|
rs200917541
|
|
|
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=)
|
rs200917541
|
|
|
NM_007194.4(CHEK2):c.417_418dup (p.Ser140fs)
|
|
|
|
NM_007194.4(CHEK2):c.417del (p.Thr138_Tyr139insTer)
|
|
|
|
NM_007194.4(CHEK2):c.418A>G (p.Ser140Gly)
|
rs1601825241
|
|
|
NM_007194.4(CHEK2):c.419G>A (p.Ser140Asn)
|
rs768234137
|
|
|
NM_007194.4(CHEK2):c.419G>C (p.Ser140Thr)
|
rs768234137
|
|
|
NM_007194.4(CHEK2):c.41G>T (p.Gly14Val)
|
rs1601854035
|
|
|
NM_007194.4(CHEK2):c.41del (p.Gly14fs)
|
rs2146155398
|
|
|
NM_007194.4(CHEK2):c.420C>G (p.Ser140Arg)
|
rs1601825215
|
|
|
NM_007194.4(CHEK2):c.420C>T (p.Ser140=)
|
rs1601825215
|
|
|
NM_007194.4(CHEK2):c.420_421del (p.Ser140fs)
|
|
|
|
NM_007194.4(CHEK2):c.421A>C (p.Lys141Gln)
|
rs2146067437
|
|
|
NM_007194.4(CHEK2):c.421A>G (p.Lys141Glu)
|
rs2146067437
|
|
|
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)
|
rs786203192
|
|
|
NM_007194.4(CHEK2):c.424A>G (p.Lys142Glu)
|
rs2146067261
|
|
|
NM_007194.4(CHEK2):c.425A>G (p.Lys142Arg)
|
|
|
|
NM_007194.4(CHEK2):c.426A>G (p.Lys142=)
|
rs1601825176
|
|
|
NM_007194.4(CHEK2):c.426dup (p.His143fs)
|
|
|
|
NM_007194.4(CHEK2):c.427_429delinsA (p.His143fs)
|
|
|
|
NM_007194.4(CHEK2):c.428A>T (p.His143Leu)
|
rs587782300
|
|
|
NM_007194.4(CHEK2):c.429C>A (p.His143Gln)
|
rs1555927151
|
|
|
NM_007194.4(CHEK2):c.429C>G (p.His143Gln)
|
rs1555927151
|
|
|
NM_007194.4(CHEK2):c.429C>T (p.His143=)
|
rs1555927151
|
|
|
NM_007194.4(CHEK2):c.429_444+4del
|
|
|
|
NM_007194.4(CHEK2):c.430T>C (p.Phe144Leu)
|
rs1569158415
|
|
|
NM_007194.4(CHEK2):c.431T>A (p.Phe144Tyr)
|
rs2053956853
|
|
|
NM_007194.4(CHEK2):c.431T>G (p.Phe144Cys)
|
rs2053956853
|
|
|
NM_007194.4(CHEK2):c.432T>A (p.Phe144Leu)
|
rs876658374
|
|
|
NM_007194.4(CHEK2):c.432T>G (p.Phe144Leu)
|
rs876658374
|
|
|
NM_007194.4(CHEK2):c.432del (p.Arg145fs)
|
rs1555927148
|
|
|
NM_007194.4(CHEK2):c.432dup (p.Arg145fs)
|
rs1555927148
|
|
|
NM_007194.4(CHEK2):c.433C>A (p.Arg145=)
|
rs137853007
|
|
|
NM_007194.4(CHEK2):c.433del (p.Arg145fs)
|
rs1555927137
|
|
|
NM_007194.4(CHEK2):c.434G>C (p.Arg145Pro)
|
rs587781667
|
|
|
NM_007194.4(CHEK2):c.435G>T (p.Arg145=)
|
rs746314542
|
|
|
NM_007194.4(CHEK2):c.436A>G (p.Ile146Val)
|
rs781678896
|
|
|
NM_007194.4(CHEK2):c.436A>T (p.Ile146Phe)
|
rs781678896
|
|
|
NM_007194.4(CHEK2):c.437T>G (p.Ile146Ser)
|
|
|
|
NM_007194.4(CHEK2):c.440del (p.Phe147fs)
|
|
|
|
NM_007194.4(CHEK2):c.441C>G (p.Phe147Leu)
|
|
|
|
NM_007194.4(CHEK2):c.441C>T (p.Phe147=)
|
rs2146066450
|
|
|
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly)
|
rs876660482
|
|
|
NM_007194.4(CHEK2):c.443G>A (p.Arg148Lys)
|
rs142966756
|
|
|
NM_007194.4(CHEK2):c.443G>C (p.Arg148Thr)
|
rs142966756
|
|
|
NM_007194.4(CHEK2):c.444+10_444+13del
|
rs1555927105
|
|
|
NM_007194.4(CHEK2):c.444+12A>G
|
|
|
|
NM_007194.4(CHEK2):c.444+12_444+14del
|
rs2146065753
|
|
|
NM_007194.4(CHEK2):c.444+13T>C
|
|
|
|
NM_007194.4(CHEK2):c.444+14A>T
|
|
|
|
NM_007194.4(CHEK2):c.444+18A>G
|
rs753667121
|
|
|
NM_007194.4(CHEK2):c.444+19T>G
|
|
|
|
NM_007194.4(CHEK2):c.444+1G>T
|
rs121908698
|
|
|
NM_007194.4(CHEK2):c.444+1del
|
rs1064793780
|
|
|
NM_007194.4(CHEK2):c.444+2T>C
|
rs560596101
|
|
|
NM_007194.4(CHEK2):c.444+2T>G
|
|
|
|
NM_007194.4(CHEK2):c.444+3A>C
|
rs587781279
|
|
|
NM_007194.4(CHEK2):c.444+4_444+11del
|
|
|
|
NM_007194.4(CHEK2):c.444+4dup
|
rs2053955000
|
|
|
NM_007194.4(CHEK2):c.444+5G>C
|
rs189961251
|
|
|
NM_007194.4(CHEK2):c.444+7_444+8insTCTCCTAG
|
rs1555927106
|
|
|
NM_007194.4(CHEK2):c.444+8A>G
|
rs1298914765
|
|
|
NM_007194.4(CHEK2):c.444+9T>C
|
rs1437978013
|
|
|
NM_007194.4(CHEK2):c.444G>A (p.Arg148=)
|
rs1298109942
|
|
|
NM_007194.4(CHEK2):c.444_444+1del
|
rs1064793780
|
|
|
NM_007194.4(CHEK2):c.445-11C>A
|
|
|
|
NM_007194.4(CHEK2):c.445-11C>T
|
rs1024561307
|
|
|
NM_007194.4(CHEK2):c.445-11dup
|
|
|
|
NM_007194.4(CHEK2):c.445-15T>C
|
|
|
|
NM_007194.4(CHEK2):c.445-19A>G
|
rs2146062808
|
|
|
NM_007194.4(CHEK2):c.445-1G>A
|
rs587782830
|
|
|
NM_007194.4(CHEK2):c.445-20C>G
|
|
|
|
NM_007194.4(CHEK2):c.445-2A>G
|
rs1569158075
|
|
|
NM_007194.4(CHEK2):c.445-2A>T
|
|
|
|
NM_007194.4(CHEK2):c.445-4T>A
|
|
|
|
NM_007194.4(CHEK2):c.445-5T>C
|
rs1555927050
|
|
|
NM_007194.4(CHEK2):c.445-5T>G
|
rs1555927050
|
|
|
NM_007194.4(CHEK2):c.445-7A>G
|
rs1601824377
|
|
|
NM_007194.4(CHEK2):c.445-8T>C
|
rs2146062474
|
|
|
NM_007194.4(CHEK2):c.445-8_446del
|
rs2146062270
|
|
|
NM_007194.4(CHEK2):c.445-9C>G
|
rs1064794870
|
|
|
NM_007194.4(CHEK2):c.445G>A (p.Glu149Lys)
|
rs587782560
|
|
|
NM_007194.4(CHEK2):c.445G>C (p.Glu149Gln)
|
rs587782560
|
|
|
NM_007194.4(CHEK2):c.447A>G (p.Glu149=)
|
rs2146062204
|
|
|
NM_007194.4(CHEK2):c.448G>T (p.Val150Leu)
|
|
|
|
NM_007194.4(CHEK2):c.448_461del (p.Val150fs)
|
rs2146061709
|
|
|
NM_007194.4(CHEK2):c.448del (p.Val150fs)
|
rs1555927038
|
|
|
NM_007194.4(CHEK2):c.449T>C (p.Val150Ala)
|
rs587782385
|
|
|
NM_007194.4(CHEK2):c.449T>G (p.Val150Gly)
|
rs587782385
|
|
|
NM_007194.4(CHEK2):c.449del (p.Val150fs)
|
rs1601824270
|
|
|
NM_007194.4(CHEK2):c.44G>A (p.Ser15Asn)
|
|
|
|
NM_007194.4(CHEK2):c.44G>T (p.Ser15Ile)
|
rs2054337550
|
|
|
NM_007194.4(CHEK2):c.451G>A (p.Gly151Ser)
|
rs587781377
|
|
|
NM_007194.4(CHEK2):c.451_472del (p.Gly151fs)
|
rs1555926975
|
|
|
NM_007194.4(CHEK2):c.452G>A (p.Gly151Asp)
|
rs1413319082
|
|
|
NM_007194.4(CHEK2):c.452_453delinsA (p.Gly151fs)
|
|
|
|
NM_007194.4(CHEK2):c.452del (p.Gly151fs)
|
rs2053949167
|
|
|
NM_007194.4(CHEK2):c.454C>A (p.Pro152Thr)
|
rs2146061931
|
|
|
NM_007194.4(CHEK2):c.454C>G (p.Pro152Ala)
|
|
|
|
NM_007194.4(CHEK2):c.454C>T (p.Pro152Ser)
|
|
|
|
NM_007194.4(CHEK2):c.455C>T (p.Pro152Leu)
|
rs1359910629
|
|
|
NM_007194.4(CHEK2):c.456T>C (p.Pro152=)
|
rs773234759
|
|
|
NM_007194.4(CHEK2):c.456del (p.Asn154fs)
|
|
|
|
NM_007194.4(CHEK2):c.457A>G (p.Lys153Glu)
|
rs1555927017
|
|
|
NM_007194.4(CHEK2):c.458A>G (p.Lys153Arg)
|
rs730881682
|
|
|
NM_007194.4(CHEK2):c.459A>G (p.Lys153=)
|
|
|
|
NM_007194.4(CHEK2):c.460A>C (p.Asn154His)
|
|
|
|
NM_007194.4(CHEK2):c.460A>T (p.Asn154Tyr)
|
rs1320819223
|
|
|
NM_007194.4(CHEK2):c.460_488dup (p.His163delinsGlnThrLeuThrLeuHisThrTer)
|
rs2146060468
|
|
|
NM_007194.4(CHEK2):c.461A>G (p.Asn154Ser)
|
rs2146061665
|
|
|
NM_007194.4(CHEK2):c.461A>T (p.Asn154Ile)
|
rs2146061665
|
|
|
NM_007194.4(CHEK2):c.461del (p.Asn154fs)
|
|
|
|
NM_007194.4(CHEK2):c.461dup (p.Asn154fs)
|
|
|
|
NM_007194.4(CHEK2):c.462C>G (p.Asn154Lys)
|
rs564924749
|
|
|
NM_007194.4(CHEK2):c.462C>T (p.Asn154=)
|
|
|
|
NM_007194.4(CHEK2):c.463T>C (p.Ser155Pro)
|
rs1175278074
|
|
|
NM_007194.4(CHEK2):c.464C>G (p.Ser155Cys)
|
|
|
|
NM_007194.4(CHEK2):c.464_465del (p.Ser155fs)
|
|
|
|
NM_007194.4(CHEK2):c.465_468del (p.Tyr156fs)
|
rs1601824130
|
|
|
NM_007194.4(CHEK2):c.466T>C (p.Tyr156His)
|
rs2053948136
|
|
|
NM_007194.4(CHEK2):c.467dup (p.Tyr156Ter)
|
rs2053947943
|
|
|
NM_007194.4(CHEK2):c.468C>A (p.Tyr156Ter)
|
rs1555926996
|
|
|
NM_007194.4(CHEK2):c.468C>G (p.Tyr156Ter)
|
rs1555926996
|
|
|
NM_007194.4(CHEK2):c.469A>G (p.Ile157Val)
|
rs748262921
|
|
|
NM_007194.4(CHEK2):c.469_592+808del
|
rs2053903140
|
|
|
NM_007194.4(CHEK2):c.469del (p.Ile157fs)
|
rs2146061284
|
|
|
NM_007194.4(CHEK2):c.46A>C (p.Ser16Arg)
|
rs1426424086
|
|
|
NM_007194.4(CHEK2):c.46_61del (p.Ser16fs)
|
rs2146154211
|
|
|
NM_007194.4(CHEK2):c.46_72del (p.Ser16_Ser24del)
|
rs1555932835
|
|
|
NM_007194.4(CHEK2):c.46dup (p.Ser16fs)
|
|
|
|
NM_007194.4(CHEK2):c.470T>G (p.Ile157Ser)
|
rs17879961
|
|
|
NM_007194.4(CHEK2):c.471T>C (p.Ile157=)
|
rs374170772
|
|
|
NM_007194.4(CHEK2):c.471del (p.Ile157fs)
|
rs2146061160
|
|
|
NM_007194.4(CHEK2):c.472del (p.Ala158fs)
|
|
|
|
NM_007194.4(CHEK2):c.473C>G (p.Ala158Gly)
|
rs864622351
|
|
|
NM_007194.4(CHEK2):c.473C>T (p.Ala158Val)
|
rs864622351
|
|
|
NM_007194.4(CHEK2):c.473_474delinsAAGTACTCT (p.Ala158fs)
|
|
|
|
NM_007194.4(CHEK2):c.473_475dup (p.Ala158_Tyr159insSer)
|
rs2146060962
|
|
|
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.474A>T (p.Ala158=)
|
rs745699485
|
|
|
NM_007194.4(CHEK2):c.476A>G (p.Tyr159Cys)
|
rs1060502718
|
|
|
NM_007194.4(CHEK2):c.477C>T (p.Tyr159=)
|
rs1601823998
|
|
|
NM_007194.4(CHEK2):c.477_478dup (p.Ile160fs)
|
|
|
|
NM_007194.4(CHEK2):c.478A>C (p.Ile160Leu)
|
rs876659950
|
|
|
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer)
|
rs1225437533
|
|
|
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr)
|
rs72552323
|
|
|
NM_007194.4(CHEK2):c.47G>A (p.Ser16Asn)
|
rs1060502705
|
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
|
NM_007194.4(CHEK2):c.480_483dup (p.Asp162fs)
|
rs864622453
|
|
|
NM_007194.4(CHEK2):c.481G>A (p.Glu161Lys)
|
|
|
|
NM_007194.4(CHEK2):c.481G>C (p.Glu161Gln)
|
rs1555926951
|
|
|
NM_007194.4(CHEK2):c.482A>C (p.Glu161Ala)
|
|
|
|
NM_007194.4(CHEK2):c.482A>G (p.Glu161Gly)
|
rs730881683
|
|
|
NM_007194.4(CHEK2):c.483A>C (p.Glu161Asp)
|
rs1601823895
|
|
|
NM_007194.4(CHEK2):c.483A>G (p.Glu161=)
|
rs1601823895
|
|
|
NM_007194.4(CHEK2):c.484G>A (p.Asp162Asn)
|
rs1555926943
|
|
|
NM_007194.4(CHEK2):c.484G>T (p.Asp162Tyr)
|
rs1555926943
|
|
|
NM_007194.4(CHEK2):c.485A>T (p.Asp162Val)
|
rs587781652
|
|
|
NM_007194.4(CHEK2):c.486T>A (p.Asp162Glu)
|
rs1569157761
|
|
|
NM_007194.4(CHEK2):c.486_488del (p.His163del)
|
rs1064794964
|
|
|
NM_007194.4(CHEK2):c.487C>G (p.His163Asp)
|
|
|
|
NM_007194.4(CHEK2):c.488A>C (p.His163Pro)
|
|
|
|
NM_007194.4(CHEK2):c.488A>G (p.His163Arg)
|
rs752304641
|
|
|
NM_007194.4(CHEK2):c.48T>C (p.Ser16=)
|
|
|
|
NM_007194.4(CHEK2):c.490A>G (p.Ser164Gly)
|
rs2053945090
|
|
|
NM_007194.4(CHEK2):c.490A>T (p.Ser164Cys)
|
rs2053945090
|
|
|
NM_007194.4(CHEK2):c.491G>A (p.Ser164Asn)
|
rs1555926921
|
|
|
NM_007194.4(CHEK2):c.491G>C (p.Ser164Thr)
|
rs1555926921
|
|
|
NM_007194.4(CHEK2):c.492T>G (p.Ser164Arg)
|
rs1601823792
|
|
|
NM_007194.4(CHEK2):c.494G>A (p.Gly165Asp)
|
rs876660846
|
|
|
NM_007194.4(CHEK2):c.494del (p.Gly165fs)
|
rs1569157733
|
|
|
NM_007194.4(CHEK2):c.495C>T (p.Gly165=)
|
rs2053944619
|
|
|
NM_007194.4(CHEK2):c.495_496delinsAT (p.Asn166Tyr)
|
rs2053944540
|
|
|
NM_007194.4(CHEK2):c.495_496insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn166fs)
|
rs2146060162
|
|
|
NM_007194.4(CHEK2):c.496A>C (p.Asn166His)
|
rs876659089
|
|
|
NM_007194.4(CHEK2):c.496A>G (p.Asn166Asp)
|
rs876659089
|
|
|
NM_007194.4(CHEK2):c.498T>A (p.Asn166Lys)
|
rs759868962
|
|
|
NM_007194.4(CHEK2):c.498T>C (p.Asn166=)
|
|
|
|
NM_007194.4(CHEK2):c.499G>C (p.Gly167Arg)
|
|
|
|
NM_007194.4(CHEK2):c.500G>T (p.Gly167Val)
|
|
|
|
NM_007194.4(CHEK2):c.501_502delinsCC (p.Thr168Pro)
|
|
|
|
NM_007194.4(CHEK2):c.502A>C (p.Thr168Pro)
|
rs1601823689
|
|
|
NM_007194.4(CHEK2):c.502A>G (p.Thr168Ala)
|
rs1601823689
|
|
|
NM_007194.4(CHEK2):c.502del (p.Thr168fs)
|
rs2146059921
|
|
|
NM_007194.4(CHEK2):c.503C>A (p.Thr168Asn)
|
rs730881684
|
|
|
NM_007194.4(CHEK2):c.504del (p.Phe169fs)
|
rs2146059828
|
|
|
NM_007194.4(CHEK2):c.505T>A (p.Phe169Ile)
|
rs876659653
|
|
|
NM_007194.4(CHEK2):c.505T>C (p.Phe169Leu)
|
rs876659653
|
|
|
NM_007194.4(CHEK2):c.505T>G (p.Phe169Val)
|
rs876659653
|
|
|
NM_007194.4(CHEK2):c.506T>C (p.Phe169Ser)
|
rs1555926890
|
|
|
NM_007194.4(CHEK2):c.506T>G (p.Phe169Cys)
|
rs1555926890
|
|
|
NM_007194.4(CHEK2):c.507T>A (p.Phe169Leu)
|
|
|
|
NM_007194.4(CHEK2):c.507_509del (p.Phe169_Val170delinsLeu)
|
rs876660363
|
|
|
NM_007194.4(CHEK2):c.507del (p.Phe169fs)
|
rs587780183
|
|
|
NM_007194.4(CHEK2):c.509T>C (p.Val170Ala)
|
|
|
|
NM_007194.4(CHEK2):c.509_514delinsG (p.Val170fs)
|
|
|
|
NM_007194.4(CHEK2):c.50C>G (p.Ala17Gly)
|
|
|
|
NM_007194.4(CHEK2):c.50C>T (p.Ala17Val)
|
rs2146154904
|
|
|
NM_007194.4(CHEK2):c.50_53dup (p.Ser19fs)
|
|
|
|
NM_007194.4(CHEK2):c.511A>C (p.Asn171His)
|
rs2146059522
|
|
|
NM_007194.4(CHEK2):c.511_512delinsGGTTCCATCC (p.Asn171fs)
|
rs2053942986
|
|
|
NM_007194.4(CHEK2):c.512A>G (p.Asn171Ser)
|
rs2146059474
|
|
|
NM_007194.4(CHEK2):c.512del (p.Asn171fs)
|
|
|
|
NM_007194.4(CHEK2):c.514A>G (p.Thr172Ala)
|
rs786203836
|
|
|
NM_007194.4(CHEK2):c.514dup (p.Thr172fs)
|
rs1601823546
|
|
|
NM_007194.4(CHEK2):c.515C>T (p.Thr172Ile)
|
rs1601823529
|
|
|
NM_007194.4(CHEK2):c.516A>G (p.Thr172=)
|
rs2146059358
|
|
|
NM_007194.4(CHEK2):c.516_519del (p.Glu173fs)
|
|
|
|
NM_007194.4(CHEK2):c.517G>A (p.Glu173Lys)
|
rs876659804
|
|
|
NM_007194.4(CHEK2):c.518A>T (p.Glu173Val)
|
rs1601823504
|
|
|
NM_007194.4(CHEK2):c.518_519del (p.Glu173fs)
|
|
|
|
NM_007194.4(CHEK2):c.519G>C (p.Glu173Asp)
|
rs2146059257
|
|
|
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.520C>G (p.Leu174Val)
|
rs876659400
|
|
|
NM_007194.4(CHEK2):c.521T>C (p.Leu174Pro)
|
rs2146059182
|
|
|
NM_007194.4(CHEK2):c.523G>A (p.Val175Ile)
|
|
|
|
NM_007194.4(CHEK2):c.523G>C (p.Val175Leu)
|
rs2053942160
|
|
|
NM_007194.4(CHEK2):c.523del (p.Leu174_Val175insTer)
|
|
|
|
NM_007194.4(CHEK2):c.524T>C (p.Val175Ala)
|
rs1555926862
|
|
|
NM_007194.4(CHEK2):c.524dup (p.Gly176fs)
|
rs587780184
|
|
|
NM_007194.4(CHEK2):c.526G>A (p.Gly176Arg)
|
rs876661085
|
|
|
NM_007194.4(CHEK2):c.526G>C (p.Gly176Arg)
|
rs876661085
|
|
|
NM_007194.4(CHEK2):c.526G>T (p.Gly176Trp)
|
rs876661085
|
|
|
NM_007194.4(CHEK2):c.526_530del (p.Gly176fs)
|
|
|
|
NM_007194.4(CHEK2):c.527G>A (p.Gly176Glu)
|
rs1555926854
|
|
|
NM_007194.4(CHEK2):c.528G>A (p.Gly176=)
|
|
|
|
NM_007194.4(CHEK2):c.528del (p.Gly178fs)
|
|
|
|
NM_007194.4(CHEK2):c.529A>C (p.Lys177Gln)
|
|
|
|
NM_007194.4(CHEK2):c.529A>G (p.Lys177Glu)
|
rs796389290
|
|
|
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter)
|
rs796389290
|
|
|
NM_007194.4(CHEK2):c.52T>C (p.Cys18Arg)
|
rs2054336674
|
|
|
NM_007194.4(CHEK2):c.52_84del (p.Cys18_Ser28del)
|
rs876658857
|
|
|
NM_007194.4(CHEK2):c.530A>G (p.Lys177Arg)
|
|
|
|
NM_007194.4(CHEK2):c.531del (p.Gly178fs)
|
|
|
|
NM_007194.4(CHEK2):c.532G>A (p.Gly178Arg)
|
rs1457055483
|
|
|
NM_007194.4(CHEK2):c.532G>C (p.Gly178Arg)
|
rs1457055483
|
|
|
NM_007194.4(CHEK2):c.533G>A (p.Gly178Glu)
|
rs864622691
|
|
|
NM_007194.4(CHEK2):c.533G>T (p.Gly178Val)
|
rs864622691
|
|
|
NM_007194.4(CHEK2):c.533_534insGAAAGT (p.Lys179_Arg180insValLys)
|
|
|
|
NM_007194.4(CHEK2):c.533del (p.Gly178fs)
|
|
|
|
NM_007194.4(CHEK2):c.534A>G (p.Gly178=)
|
rs554465930
|
|
|
NM_007194.4(CHEK2):c.537A>G (p.Lys179=)
|
rs2146058652
|
|
|
NM_007194.4(CHEK2):c.537del (p.Lys179fs)
|
rs2053940893
|
|
|
NM_007194.4(CHEK2):c.538C>G (p.Arg180Gly)
|
|
|
|
NM_007194.4(CHEK2):c.538del (p.Arg180fs)
|
|
|
|
NM_007194.4(CHEK2):c.539G>C (p.Arg180Pro)
|
rs137853009
|
|
|
NM_007194.4(CHEK2):c.539G>T (p.Arg180Leu)
|
rs137853009
|
|
|
NM_007194.4(CHEK2):c.53G>A (p.Cys18Tyr)
|
rs151218932
|
|
|
NM_007194.4(CHEK2):c.53G>C (p.Cys18Ser)
|
rs151218932
|
|
|
NM_007194.4(CHEK2):c.541C>A (p.Arg181Ser)
|
|
|
|
NM_007194.4(CHEK2):c.543_549del (p.Pro182fs)
|
rs2053939874
|
|
|
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr)
|
rs786203973
|
|
|
NM_007194.4(CHEK2):c.544C>G (p.Pro182Ala)
|
|
|
|
NM_007194.4(CHEK2):c.544C>T (p.Pro182Ser)
|
rs786203973
|
|
|
NM_007194.4(CHEK2):c.545dup (p.Leu183fs)
|
rs2146058345
|
|
|
NM_007194.4(CHEK2):c.547_548del (p.Leu183fs)
|
rs2146058204
|
|
|
NM_007194.4(CHEK2):c.548T>A (p.Leu183Ter)
|
|
|
|
NM_007194.4(CHEK2):c.548T>C (p.Leu183Ser)
|
rs2053939966
|
|
|
NM_007194.4(CHEK2):c.548del (p.Pro182_Leu183insTer)
|
rs2146058204
|
|
|
NM_007194.4(CHEK2):c.549_552del (p.Asn184fs)
|
|
|
|
NM_007194.4(CHEK2):c.54T>C (p.Cys18=)
|
rs1057523962
|
|
|
NM_007194.4(CHEK2):c.551A>G (p.Asn184Ser)
|
rs1444410452
|
|
|
NM_007194.4(CHEK2):c.552T>A (p.Asn184Lys)
|
|
|
|
NM_007194.4(CHEK2):c.554A>G (p.Asn185Ser)
|
rs2053939554
|
|
|
NM_007194.4(CHEK2):c.555C>A (p.Asn185Lys)
|
rs780782542
|
|
|
NM_007194.4(CHEK2):c.555C>G (p.Asn185Lys)
|
rs780782542
|
|
|
NM_007194.4(CHEK2):c.555C>T (p.Asn185=)
|
rs780782542
|
|
|
NM_007194.4(CHEK2):c.555_585del (p.Asn185fs)
|
|
|
|
NM_007194.4(CHEK2):c.555del (p.Asn185fs)
|
|
|
|
NM_007194.4(CHEK2):c.556A>G (p.Asn186Asp)
|
rs146198085
|
|
|
NM_007194.4(CHEK2):c.556A>T (p.Asn186Tyr)
|
rs146198085
|
|
|
NM_007194.4(CHEK2):c.557A>C (p.Asn186Thr)
|
|
|
|
NM_007194.4(CHEK2):c.557A>T (p.Asn186Ile)
|
rs369223840
|
|
|
NM_007194.4(CHEK2):c.557_559del (p.Asn186_Ser187delinsThr)
|
|
|
|
NM_007194.4(CHEK2):c.557del (p.Asn186fs)
|
rs2146057730
|
|
|
NM_007194.4(CHEK2):c.55del (p.Ser19fs)
|
rs2146154644
|
|
|
NM_007194.4(CHEK2):c.560C>A (p.Ser187Tyr)
|
rs1555926784
|
|
|
NM_007194.4(CHEK2):c.561T>C (p.Ser187=)
|
rs1555926782
|
|
|
NM_007194.4(CHEK2):c.561del (p.Glu188fs)
|
|
|
|
NM_007194.4(CHEK2):c.562G>A (p.Glu188Lys)
|
rs2053938596
|
|
|
NM_007194.4(CHEK2):c.563A>G (p.Glu188Gly)
|
rs757812205
|
|
|
NM_007194.4(CHEK2):c.565A>T (p.Ile189Phe)
|
|
|
|
NM_007194.4(CHEK2):c.566T>C (p.Ile189Thr)
|
rs1456708574
|
|
|
NM_007194.4(CHEK2):c.566T>G (p.Ile189Ser)
|
rs1456708574
|
|
|
NM_007194.4(CHEK2):c.568G>A (p.Ala190Thr)
|
rs764852525
|
|
|
NM_007194.4(CHEK2):c.568_569delinsTG (p.Ala190Ter)
|
|
|
|
NM_007194.4(CHEK2):c.569C>G (p.Ala190Gly)
|
rs786203483
|
|
|
NM_007194.4(CHEK2):c.56C>G (p.Ser19Ter)
|
rs1555932877
|
|
|
NM_007194.4(CHEK2):c.56dup (p.Gln20fs)
|
|
|
|
NM_007194.4(CHEK2):c.570A>T (p.Ala190=)
|
rs754689169
|
|
|
NM_007194.4(CHEK2):c.571C>G (p.Leu191Val)
|
rs1555926762
|
|
|
NM_007194.4(CHEK2):c.571C>T (p.Leu191=)
|
|
|
|
NM_007194.4(CHEK2):c.571del (p.Leu191fs)
|
|
|
|
NM_007194.4(CHEK2):c.572T>C (p.Leu191Pro)
|
rs1601822957
|
|
|
NM_007194.4(CHEK2):c.573_578del (p.191LS[1])
|
|
|
|
NM_007194.4(CHEK2):c.573del (p.Ser192fs)
|
|
|
|
NM_007194.4(CHEK2):c.575C>A (p.Ser192Ter)
|
rs899211928
|
|
|
NM_007194.4(CHEK2):c.575C>G (p.Ser192Ter)
|
|
|
|
NM_007194.4(CHEK2):c.576A>G (p.Ser192=)
|
rs1555926751
|
|
|
NM_007194.4(CHEK2):c.577C>T (p.Leu193=)
|
rs201716357
|
|
|
NM_007194.4(CHEK2):c.579A>G (p.Leu193=)
|
rs1569157233
|
|
|
NM_007194.4(CHEK2):c.580A>C (p.Ser194Arg)
|
rs786203042
|
|
|
NM_007194.4(CHEK2):c.580A>T (p.Ser194Cys)
|
rs786203042
|
|
|
NM_007194.4(CHEK2):c.580dup (p.Ser194fs)
|
|
|
|
NM_007194.4(CHEK2):c.581G>A (p.Ser194Asn)
|
rs1601822839
|
|
|
NM_007194.4(CHEK2):c.582C>T (p.Ser194=)
|
rs761126328
|
|
|
NM_007194.4(CHEK2):c.585A>T (p.Arg195Ser)
|
|
|
|
NM_007194.4(CHEK2):c.586A>G (p.Asn196Asp)
|
rs1060502693
|
|
|
NM_007194.4(CHEK2):c.587A>G (p.Asn196Ser)
|
rs863224751
|
|
|
NM_007194.4(CHEK2):c.589A>G (p.Lys197Glu)
|
rs2053936071
|
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
|
NM_007194.4(CHEK2):c.590A>G (p.Lys197Arg)
|
rs1555926718
|
|
|
NM_007194.4(CHEK2):c.591A>G (p.Lys197=)
|
rs1569157165
|
|
|
NM_007194.4(CHEK2):c.591A>T (p.Lys197Asn)
|
|
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
|
NM_007194.4(CHEK2):c.592+10T>C
|
|
|
|
NM_007194.4(CHEK2):c.592+12A>G
|
|
|
|
NM_007194.4(CHEK2):c.592+13T>C
|
rs1057521311
|
|
|
NM_007194.4(CHEK2):c.592+14C>T
|
|
|
|
NM_007194.4(CHEK2):c.592+14_592+18dup
|
|
|
|
NM_007194.4(CHEK2):c.592+16_592+17insGGTAATATTATTATCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCAGCC
|
rs2146055696
|
|
|
NM_007194.4(CHEK2):c.592+17A>G
|
rs2053934609
|
|
|
NM_007194.4(CHEK2):c.592+19G>A
|
rs1569157121
|
|
|
NM_007194.4(CHEK2):c.592+1G>A
|
rs1601822722
|
|
|
NM_007194.4(CHEK2):c.592+1G>T
|
|
|
|
NM_007194.4(CHEK2):c.592+20G>T
|
|
|
|
NM_007194.4(CHEK2):c.592+2T>A
|
|
|
|
NM_007194.4(CHEK2):c.592+2T>C
|
rs1601822717
|
|
|
NM_007194.4(CHEK2):c.592+3A>C
|
|
|
|
NM_007194.4(CHEK2):c.592+3A>G
|
|
|
|
NM_007194.4(CHEK2):c.592+4A>T
|
rs375905418
|
|
|
NM_007194.4(CHEK2):c.592+50A>C
|
rs17881298
|
|
|
NM_007194.4(CHEK2):c.592+5TAT[2]
|
rs1555926697
|
|
|
NM_007194.4(CHEK2):c.592+7T>C
|
rs2146055993
|
|
|
NM_007194.4(CHEK2):c.592+81del
|
rs746878232
|
|
|
NM_007194.4(CHEK2):c.592+8T>C
|
rs2146055953
|
|
|
NM_007194.4(CHEK2):c.592+9A>T
|
|
|
|
NM_007194.4(CHEK2):c.592G>A (p.Val198Ile)
|
rs1555926708
|
|
|
NM_007194.4(CHEK2):c.592G>C (p.Val198Leu)
|
rs1555926708
|
|
|
NM_007194.4(CHEK2):c.593-10T>G
|
rs2146007869
|
|
|
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.593-16C>T
|
rs1057523924
|
|
|
NM_007194.4(CHEK2):c.593-18T>C
|
rs1569150284
|
|
|
NM_007194.4(CHEK2):c.593-1G>A
|
rs786203229
|
|
|
NM_007194.4(CHEK2):c.593-1G>C
|
rs786203229
|
|
|
NM_007194.4(CHEK2):c.593-1G>T
|
rs786203229
|
|
|
NM_007194.4(CHEK2):c.593-2089T>C
|
rs1012399282
|
|
|
NM_007194.4(CHEK2):c.593-20T>G
|
rs1555924584
|
|
|
NM_007194.4(CHEK2):c.593-20_593-18del
|
rs752590759
|
|
|
NM_007194.4(CHEK2):c.593-2151A>T
|
rs1411302770
|
|
|
NM_007194.4(CHEK2):c.593-2162_593-2156dup
|
rs199835095
|
|
|
NM_007194.4(CHEK2):c.593-2A>C
|
|
|
|
NM_007194.4(CHEK2):c.593-2A>G
|
rs2146007633
|
|
|
NM_007194.4(CHEK2):c.593-2A>T
|
|
|
|
NM_007194.4(CHEK2):c.593-3T>C
|
rs2053697211
|
|
|
NM_007194.4(CHEK2):c.593-4T>A
|
rs2146007700
|
|
|
NM_007194.4(CHEK2):c.593-6C>T
|
|
|
|
NM_007194.4(CHEK2):c.593-7T>A
|
rs1555924549
|
|
|
NM_007194.4(CHEK2):c.593-9C>G
|
rs1057517597
|
|
|
NM_007194.4(CHEK2):c.593T>A (p.Val198Asp)
|
|
|
|
NM_007194.4(CHEK2):c.593T>C (p.Val198Ala)
|
rs1601806153
|
|
|
NM_007194.4(CHEK2):c.593T>G (p.Val198Gly)
|
rs1601806153
|
|
|
NM_007194.4(CHEK2):c.594T>C (p.Val198=)
|
rs2146007540
|
|
|
NM_007194.4(CHEK2):c.595T>G (p.Phe199Val)
|
rs2146007516
|
|
|
NM_007194.4(CHEK2):c.597T>C (p.Phe199=)
|
rs2146007453
|
|
|
NM_007194.4(CHEK2):c.597del (p.Phe199fs)
|
rs1250779080
|
|
|
NM_007194.4(CHEK2):c.598G>A (p.Val200Ile)
|
rs730881704
|
|
|
NM_007194.4(CHEK2):c.598G>T (p.Val200Phe)
|
rs730881704
|
|
|
NM_007194.4(CHEK2):c.599T>A (p.Val200Asp)
|
|
|
|
NM_007194.4(CHEK2):c.599T>C (p.Val200Ala)
|
rs2053696720
|
|
|
NM_007194.4(CHEK2):c.5C>G (p.Ser2Cys)
|
|
|
|
NM_007194.4(CHEK2):c.600C>T (p.Val200=)
|
|
|
|
NM_007194.4(CHEK2):c.600del (p.Phe202fs)
|
rs1555924538
|
|
|
NM_007194.4(CHEK2):c.601T>A (p.Phe201Ile)
|
rs786202416
|
|
|
NM_007194.4(CHEK2):c.601T>G (p.Phe201Val)
|
rs786202416
|
|
|
NM_007194.4(CHEK2):c.602T>C (p.Phe201Ser)
|
rs1555924525
|
|
|
NM_007194.4(CHEK2):c.602T>G (p.Phe201Cys)
|
rs1555924525
|
|
|
NM_007194.4(CHEK2):c.604T>C (p.Phe202Leu)
|
rs758529351
|
|
|
NM_007194.4(CHEK2):c.604_606del (p.Phe202del)
|
rs886039609
|
|
|
NM_007194.4(CHEK2):c.605T>G (p.Phe202Cys)
|
rs2053696167
|
|
|
NM_007194.4(CHEK2):c.605_606del (p.Phe201_Phe202insTer)
|
rs886039609
|
|
|
NM_007194.4(CHEK2):c.606_607insSVAelement
|
|
|
|
NM_007194.4(CHEK2):c.606del (p.Phe202fs)
|
rs886039609
|
|
|
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter)
|
rs886039609
|
|
|
NM_007194.4(CHEK2):c.607G>A (p.Asp203Asn)
|
rs1601806038
|
|
|
NM_007194.4(CHEK2):c.607del (p.Asp203fs)
|
|
|
|
NM_007194.4(CHEK2):c.608A>C (p.Asp203Ala)
|
rs587782813
|
|
|
NM_007194.4(CHEK2):c.608A>T (p.Asp203Val)
|
rs587782813
|
|
|
NM_007194.4(CHEK2):c.611T>A (p.Leu204Gln)
|
|
|
|
NM_007194.4(CHEK2):c.611T>C (p.Leu204Pro)
|
rs1569150113
|
|
|
NM_007194.4(CHEK2):c.612G>T (p.Leu204=)
|
rs752876192
|
|
|
NM_007194.4(CHEK2):c.613A>G (p.Thr205Ala)
|
rs587780187
|
|
|
NM_007194.4(CHEK2):c.613A>T (p.Thr205Ser)
|
rs587780187
|
|
|
NM_007194.4(CHEK2):c.614C>G (p.Thr205Ser)
|
rs759734429
|
|
|
NM_007194.4(CHEK2):c.614C>T (p.Thr205Ile)
|
rs759734429
|
|
|
NM_007194.4(CHEK2):c.614_615del (p.Thr205fs)
|
|
|
|
NM_007194.4(CHEK2):c.615T>C (p.Thr205=)
|
rs1555924498
|
|
|
NM_007194.4(CHEK2):c.615T>G (p.Thr205=)
|
rs1555924498
|
|
|
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)
|
rs1346554630
|
|
|
NM_007194.4(CHEK2):c.619GAT[1] (p.Asp208del)
|
rs1385692387
|
|
|
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr)
|
rs587782323
|
|
|
NM_007194.4(CHEK2):c.620A>T (p.Asp207Val)
|
|
|
|
NM_007194.4(CHEK2):c.621T>C (p.Asp207=)
|
rs1555924486
|
|
|
NM_007194.4(CHEK2):c.621del (p.Asp207fs)
|
rs1569150017
|
|
|
NM_007194.4(CHEK2):c.622G>T (p.Asp208Tyr)
|
rs2053694409
|
|
|
NM_007194.4(CHEK2):c.623A>T (p.Asp208Val)
|
rs1601805877
|
|
|
NM_007194.4(CHEK2):c.623_626del (p.Asp208fs)
|
|
|
|
NM_007194.4(CHEK2):c.624T>A (p.Asp208Glu)
|
rs1555924474
|
|
|
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.625del (p.Gln209fs)
|
|
|
|
NM_007194.4(CHEK2):c.627G>A (p.Gln209=)
|
rs1165394017
|
|
|
NM_007194.4(CHEK2):c.629C>A (p.Ser210Ter)
|
|
|
|
NM_007194.4(CHEK2):c.629C>G (p.Ser210Ter)
|
rs767253467
|
|
|
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs)
|
rs756131136
|
|
|
NM_007194.4(CHEK2):c.631G>T (p.Val211Phe)
|
rs1060502692
|
|
|
NM_007194.4(CHEK2):c.635A>C (p.Tyr212Ser)
|
|
|
|
NM_007194.4(CHEK2):c.635A>G (p.Tyr212Cys)
|
rs2053693253
|
|
|
NM_007194.4(CHEK2):c.635A>T (p.Tyr212Phe)
|
|
|
|
NM_007194.4(CHEK2):c.636T>A (p.Tyr212Ter)
|
|
|
|
NM_007194.4(CHEK2):c.636T>G (p.Tyr212Ter)
|
rs2053693149
|
|
|
NM_007194.4(CHEK2):c.637C>A (p.Pro213Thr)
|
|
|
|
NM_007194.4(CHEK2):c.638C>A (p.Pro213His)
|
rs1569149890
|
|
|
NM_007194.4(CHEK2):c.638C>G (p.Pro213Arg)
|
rs1569149890
|
|
|
NM_007194.4(CHEK2):c.638C>T (p.Pro213Leu)
|
rs1569149890
|
|
|
NM_007194.4(CHEK2):c.63C>T (p.Pro21=)
|
rs2146154036
|
|
|
NM_007194.4(CHEK2):c.642G>A (p.Lys214=)
|
rs1569149867
|
|
|
NM_007194.4(CHEK2):c.643G>A (p.Ala215Thr)
|
rs1060502708
|
|
|
NM_007194.4(CHEK2):c.644C>T (p.Ala215Val)
|
rs2146005998
|
|
|
NM_007194.4(CHEK2):c.644del (p.Ala215fs)
|
rs2146006030
|
|
|
NM_007194.4(CHEK2):c.647T>C (p.Leu216Ser)
|
|
|
|
NM_007194.4(CHEK2):c.647T>G (p.Leu216Ter)
|
|
|
|
NM_007194.4(CHEK2):c.647dup (p.Leu216fs)
|
|
|
|
NM_007194.4(CHEK2):c.649del (p.Arg217fs)
|
|
|
|
NM_007194.4(CHEK2):c.64C>T (p.His22Tyr)
|
rs1601853823
|
|
|
NM_007194.4(CHEK2):c.64del (p.His22fs)
|
rs2054335480
|
|
|
NM_007194.4(CHEK2):c.650G>T (p.Arg217Ile)
|
rs1486909310
|
|
|
NM_007194.4(CHEK2):c.652G>T (p.Asp218Tyr)
|
rs1601805677
|
|
|
NM_007194.4(CHEK2):c.653A>G (p.Asp218Gly)
|
rs961959952
|
|
|
NM_007194.4(CHEK2):c.653A>T (p.Asp218Val)
|
|
|
|
NM_007194.4(CHEK2):c.654T>C (p.Asp218=)
|
rs907621837
|
|
|
NM_007194.4(CHEK2):c.654T>G (p.Asp218Glu)
|
rs907621837
|
|
|
NM_007194.4(CHEK2):c.655G>T (p.Glu219Ter)
|
rs1601805632
|
|
|
NM_007194.4(CHEK2):c.655del (p.Glu219fs)
|
rs786202497
|
|
|
NM_007194.4(CHEK2):c.656_657del (p.Glu219fs)
|
|
|
|
NM_007194.4(CHEK2):c.657A>C (p.Glu219Asp)
|
rs1222043566
|
|
|
NM_007194.4(CHEK2):c.657A>G (p.Glu219=)
|
rs1222043566
|
|
|
NM_007194.4(CHEK2):c.657del (p.Glu219fs)
|
|
|
|
NM_007194.4(CHEK2):c.658T>A (p.Tyr220Asn)
|
rs1555924429
|
|
|
NM_007194.4(CHEK2):c.658T>C (p.Tyr220His)
|
rs1555924429
|
|
|
NM_007194.4(CHEK2):c.658dup (p.Tyr220fs)
|
rs2146005603
|
|
|
NM_007194.4(CHEK2):c.659A>G (p.Tyr220Cys)
|
rs1060502690
|
|
|
NM_007194.4(CHEK2):c.659_662del (p.Tyr220fs)
|
rs2053691104
|
|
|
NM_007194.4(CHEK2):c.65A>G (p.His22Arg)
|
rs1601853800
|
|
|
NM_007194.4(CHEK2):c.660C>G (p.Tyr220Ter)
|
|
|
|
NM_007194.4(CHEK2):c.660CAT[1] (p.Ile221del)
|
rs1569149693
|
|
|
NM_007194.4(CHEK2):c.660_661del (p.Ile221fs)
|
rs2146005460
|
|
|
NM_007194.4(CHEK2):c.661A>C (p.Ile221Leu)
|
rs199749372
|
|
|
NM_007194.4(CHEK2):c.663_664insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met222fs)
|
rs2146005334
|
|
|
NM_007194.4(CHEK2):c.663del (p.Met222fs)
|
|
|
|
NM_007194.4(CHEK2):c.664A>C (p.Met222Leu)
|
rs786203472
|
|
|
NM_007194.4(CHEK2):c.664A>G (p.Met222Val)
|
rs786203472
|
|
|
NM_007194.4(CHEK2):c.664_676del (p.Met222fs)
|
rs2146004773
|
|
|
NM_007194.4(CHEK2):c.664del (p.Met222fs)
|
rs2146005256
|
|
|
NM_007194.4(CHEK2):c.665T>A (p.Met222Lys)
|
rs775134484
|
|
|
NM_007194.4(CHEK2):c.665T>G (p.Met222Arg)
|
|
|
|
NM_007194.4(CHEK2):c.668C>G (p.Ser223Ter)
|
|
|
|
NM_007194.4(CHEK2):c.668_669insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser223_Lys224insTer)
|
rs2146005039
|
|
|
NM_007194.4(CHEK2):c.669A>C (p.Ser223=)
|
|
|
|
NM_007194.4(CHEK2):c.669_679del (p.Thr225fs)
|
|
|
|
NM_007194.4(CHEK2):c.66T>C (p.His22=)
|
|
|
|
NM_007194.4(CHEK2):c.670A>G (p.Lys224Glu)
|
rs2146004927
|
|
|
NM_007194.4(CHEK2):c.673A>C (p.Thr225Pro)
|
rs1555924390
|
|
|
NM_007194.4(CHEK2):c.673del (p.Thr225fs)
|
rs1342011335
|
|
|
NM_007194.4(CHEK2):c.673dup (p.Thr225fs)
|
rs1342011335
|
|
|
NM_007194.4(CHEK2):c.674C>G (p.Thr225Ser)
|
rs2146004812
|
|
|
NM_007194.4(CHEK2):c.676C>G (p.Leu226Val)
|
|
|
|
NM_007194.4(CHEK2):c.677T>C (p.Leu226Pro)
|
rs1296957097
|
|
|
NM_007194.4(CHEK2):c.679G>A (p.Gly227Arg)
|
rs878854920
|
|
|
NM_007194.4(CHEK2):c.679G>C (p.Gly227Arg)
|
rs878854920
|
|
|
NM_007194.4(CHEK2):c.679_680delinsCT (p.Gly227Leu)
|
|
|
|
NM_007194.4(CHEK2):c.680G>A (p.Gly227Glu)
|
rs2053689692
|
|
|
NM_007194.4(CHEK2):c.680G>T (p.Gly227Val)
|
rs2053689692
|
|
|
NM_007194.4(CHEK2):c.680dup (p.Ser228fs)
|
|
|
|
NM_007194.4(CHEK2):c.681_683+1del
|
|
|
|
NM_007194.4(CHEK2):c.682A>G (p.Ser228Gly)
|
rs745475247
|
|
|
NM_007194.4(CHEK2):c.682A>T (p.Ser228Cys)
|
rs745475247
|
|
|
NM_007194.4(CHEK2):c.683+10T>A
|
rs747427230
|
|
|
NM_007194.4(CHEK2):c.683+13C>A
|
rs778407044
|
|
|
NM_007194.4(CHEK2):c.683+14T>C
|
rs2146004216
|
|
|
NM_007194.4(CHEK2):c.683+17T>C
|
rs2053688522
|
|
|
NM_007194.4(CHEK2):c.683+18A>C
|
|
|
|
NM_007194.4(CHEK2):c.683+19T>G
|
rs2146004096
|
|
|
NM_007194.4(CHEK2):c.683+1G>A
|
rs786203650
|
|
|
NM_007194.4(CHEK2):c.683+1G>C
|
rs786203650
|
|
|
NM_007194.4(CHEK2):c.683+1G>T
|
rs786203650
|
|
|
NM_007194.4(CHEK2):c.683+293C>T
|
|
|
|
NM_007194.4(CHEK2):c.683+2T>A
|
rs781021132
|
|
|
NM_007194.4(CHEK2):c.683+2T>C
|
rs781021132
|
|
|
NM_007194.4(CHEK2):c.683+2T>G
|
|
|
|
NM_007194.4(CHEK2):c.683+4A>C
|
rs1064795509
|
|
|
NM_007194.4(CHEK2):c.683+4A>G
|
rs1064795509
|
|
|
NM_007194.4(CHEK2):c.683+5A>C
|
rs2146004424
|
|
|
NM_007194.4(CHEK2):c.683+6T>C
|
rs757664495
|
|
|
NM_007194.4(CHEK2):c.683+6T>G
|
|
|
|
NM_007194.4(CHEK2):c.683+7T>A
|
|
|
|
NM_007194.4(CHEK2):c.683G>A (p.Ser228Asn)
|
rs1601805361
|
|
|
NM_007194.4(CHEK2):c.684-10T>C
|
rs1601784458
|
|
|
NM_007194.4(CHEK2):c.684-11T>G
|
rs1392495288
|
|
|
NM_007194.4(CHEK2):c.684-13T>C
|
|
|
|
NM_007194.4(CHEK2):c.684-13T>G
|
|
|
|
NM_007194.4(CHEK2):c.684-14G>A
|
|
|
|
NM_007194.4(CHEK2):c.684-16T>C
|
rs1056041546
|
|
|
NM_007194.4(CHEK2):c.684-19del
|
|
|
|
NM_007194.4(CHEK2):c.684-1G>A
|
rs1298667185
|
|
|
NM_007194.4(CHEK2):c.684-1G>C
|
rs1298667185
|
|
|
NM_007194.4(CHEK2):c.684-1del
|
rs2145953393
|
|
|
NM_007194.4(CHEK2):c.684-1dup
|
|
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
|
NM_007194.4(CHEK2):c.684-2A>T
|
rs2053419665
|
|
|
NM_007194.4(CHEK2):c.684-3T>C
|
rs1555921387
|
|
|
NM_007194.4(CHEK2):c.684-3_684-2del
|
|
|
|
NM_007194.4(CHEK2):c.684-4C>A
|
rs121908695
|
|
|
NM_007194.4(CHEK2):c.684-4C>T
|
rs121908695
|
|
|
NM_007194.4(CHEK2):c.684-5_684-2delinsC
|
rs2053419709
|
|
|
NM_007194.4(CHEK2):c.684-6del
|
|
|
|
NM_007194.4(CHEK2):c.684-7C>T
|
rs745408471
|
|
|
NM_007194.4(CHEK2):c.684-8C>G
|
rs1555921406
|
|
|
NM_007194.4(CHEK2):c.684-8C>T
|
rs1555921406
|
|
|
NM_007194.4(CHEK2):c.684-9T>C
|
|
|
|
NM_007194.4(CHEK2):c.685G>A (p.Gly229Ser)
|
rs1064794948
|
|
|
NM_007194.4(CHEK2):c.685G>C (p.Gly229Arg)
|
rs1064794948
|
|
|
NM_007194.4(CHEK2):c.685G>T (p.Gly229Cys)
|
rs1064794948
|
|
|
NM_007194.4(CHEK2):c.686G>A (p.Gly229Asp)
|
rs778212685
|
|
|
NM_007194.4(CHEK2):c.686G>C (p.Gly229Ala)
|
rs778212685
|
|
|
NM_007194.4(CHEK2):c.687T>C (p.Gly229=)
|
rs2145953175
|
|
|
NM_007194.4(CHEK2):c.688G>A (p.Ala230Thr)
|
rs748636216
|
|
|
NM_007194.4(CHEK2):c.688G>C (p.Ala230Pro)
|
rs748636216
|
|
|
NM_007194.4(CHEK2):c.688del (p.Ala230fs)
|
|
|
|
NM_007194.4(CHEK2):c.689C>A (p.Ala230Asp)
|
rs730881685
|
|
|
NM_007194.4(CHEK2):c.689C>T (p.Ala230Val)
|
rs730881685
|
|
|
NM_007194.4(CHEK2):c.68G>A (p.Gly23Asp)
|
rs1601853772
|
|
|
NM_007194.4(CHEK2):c.68G>C (p.Gly23Ala)
|
rs1601853772
|
|
|
NM_007194.4(CHEK2):c.690C>G (p.Ala230=)
|
rs1569140952
|
|
|
NM_007194.4(CHEK2):c.691T>C (p.Cys231Arg)
|
rs2053418354
|
|
|
NM_007194.4(CHEK2):c.692G>T (p.Cys231Phe)
|
rs1555921335
|
|
|
NM_007194.4(CHEK2):c.693T>C (p.Cys231=)
|
rs2145952847
|
|
|
NM_007194.4(CHEK2):c.694G>A (p.Gly232Arg)
|
rs1555921319
|
|
|
NM_007194.4(CHEK2):c.695G>A (p.Gly232Glu)
|
rs779322187
|
|
|
NM_007194.4(CHEK2):c.695G>T (p.Gly232Val)
|
rs779322187
|
|
|
NM_007194.4(CHEK2):c.696A>G (p.Gly232=)
|
|
|
|
NM_007194.4(CHEK2):c.696del (p.Glu233fs)
|
|
|
|
NM_007194.4(CHEK2):c.696dup (p.Glu233fs)
|
rs1601784008
|
|
|
NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter)
|
rs753972711
|
|
|
NM_007194.4(CHEK2):c.698A>C (p.Glu233Ala)
|
rs1601783933
|
|
|
NM_007194.4(CHEK2):c.698A>G (p.Glu233Gly)
|
rs1601783933
|
|
|
NM_007194.4(CHEK2):c.699G>A (p.Glu233=)
|
rs1555921308
|
|
|
NM_007194.4(CHEK2):c.69C>T (p.Gly23=)
|
rs865997083
|
|
|
NM_007194.4(CHEK2):c.6_10del (p.Arg3fs)
|
rs2146157133
|
|
|
NM_007194.4(CHEK2):c.700_705dup (p.Lys235_Leu236insValLys)
|
|
|
|
NM_007194.4(CHEK2):c.700_712del (p.Val234fs)
|
|
|
|
NM_007194.4(CHEK2):c.700delinsTTTAA (p.Val234fs)
|
rs1601783879
|
|
|
NM_007194.4(CHEK2):c.701T>G (p.Val234Gly)
|
rs2053416773
|
|
|
NM_007194.4(CHEK2):c.701_720del (p.Val234fs)
|
rs2145951528
|
|
|
NM_007194.4(CHEK2):c.703A>G (p.Lys235Glu)
|
rs780245843
|
|
|
NM_007194.4(CHEK2):c.704A>T (p.Lys235Met)
|
|
|
|
NM_007194.4(CHEK2):c.705G>A (p.Lys235=)
|
rs1555921297
|
|
|
NM_007194.4(CHEK2):c.705G>C (p.Lys235Asn)
|
rs1555921297
|
|
|
NM_007194.4(CHEK2):c.706C>G (p.Leu236Val)
|
rs1060502694
|
|
|
NM_007194.4(CHEK2):c.706del (p.Leu236fs)
|
rs1555921290
|
|
|
NM_007194.4(CHEK2):c.70A>C (p.Ser24Arg)
|
rs2146153708
|
|
|
NM_007194.4(CHEK2):c.710C>A (p.Ala237Asp)
|
rs878854921
|
|
|
NM_007194.4(CHEK2):c.710C>T (p.Ala237Val)
|
rs878854921
|
|
|
NM_007194.4(CHEK2):c.710_718delinsGG (p.Ala237fs)
|
|
|
|
NM_007194.4(CHEK2):c.713T>C (p.Phe238Ser)
|
rs2145951876
|
|
|
NM_007194.4(CHEK2):c.714C>G (p.Phe238Leu)
|
rs864622322
|
|
|
NM_007194.4(CHEK2):c.715G>C (p.Glu239Gln)
|
rs121908702
|
|
|
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)
|
rs121908702
|
|
|
NM_007194.4(CHEK2):c.716A>T (p.Glu239Val)
|
rs763892124
|
|
|
NM_007194.4(CHEK2):c.716del (p.Glu239fs)
|
|
|
|
NM_007194.4(CHEK2):c.717G>C (p.Glu239Asp)
|
rs1555921253
|
|
|
NM_007194.4(CHEK2):c.718A>G (p.Arg240Gly)
|
rs2053414553
|
|
|
NM_007194.4(CHEK2):c.718del (p.Arg240fs)
|
rs2145951649
|
|
|
NM_007194.4(CHEK2):c.719G>C (p.Arg240Thr)
|
rs1323633806
|
|
|
NM_007194.4(CHEK2):c.720_736del (p.Arg240fs)
|
|
|
|
NM_007194.4(CHEK2):c.721A>G (p.Lys241Glu)
|
rs1555921240
|
|
|
NM_007194.4(CHEK2):c.721A>T (p.Lys241Ter)
|
|
|
|
NM_007194.4(CHEK2):c.724_725insG (p.Thr242fs)
|
|
|
|
NM_007194.4(CHEK2):c.724del (p.Thr242fs)
|
rs2145951385
|
|
|
NM_007194.4(CHEK2):c.725C>T (p.Thr242Ile)
|
rs765136136
|
|
|
NM_007194.4(CHEK2):c.725del (p.Thr242fs)
|
|
|
|
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer)
|
rs1392940377
|
|
|
NM_007194.4(CHEK2):c.727T>G (p.Cys243Gly)
|
rs141776984
|
|
|
NM_007194.4(CHEK2):c.728G>A (p.Cys243Tyr)
|
rs1555921203
|
|
|
NM_007194.4(CHEK2):c.728_729del (p.Thr242_Cys243insTer)
|
|
|
|
NM_007194.4(CHEK2):c.729dup (p.Lys244Ter)
|
rs2145951132
|
|
|
NM_007194.4(CHEK2):c.72C>G (p.Ser24Arg)
|
|
|
|
NM_007194.4(CHEK2):c.72C>T (p.Ser24=)
|
rs759679862
|
|
|
NM_007194.4(CHEK2):c.72_81del (p.Val25fs)
|
|
|
|
NM_007194.4(CHEK2):c.72dup (p.Val25fs)
|
|
|
|
NM_007194.4(CHEK2):c.731A>C (p.Lys244Thr)
|
rs587778193
|
|
|
NM_007194.4(CHEK2):c.731dup (p.Lys245fs)
|
|
|
|
NM_007194.4(CHEK2):c.732_733del (p.Lys245fs)
|
|
|
|
NM_007194.4(CHEK2):c.733A>T (p.Lys245Ter)
|
rs1601783375
|
|
|
NM_007194.4(CHEK2):c.733_736del (p.Lys244_Lys245insTer)
|
rs2053412352
|
|
|
NM_007194.4(CHEK2):c.735A>G (p.Lys245=)
|
rs773017534
|
|
|
NM_007194.4(CHEK2):c.736G>A (p.Val246Ile)
|
rs748504161
|
|
|
NM_007194.4(CHEK2):c.736G>C (p.Val246Leu)
|
rs748504161
|
|
|
NM_007194.4(CHEK2):c.737_739del (p.Val246del)
|
rs571741738
|
|
|
NM_007194.4(CHEK2):c.737_782dup (p.Arg262fs)
|
rs2145949099
|
|
|
NM_007194.4(CHEK2):c.739G>A (p.Ala247Thr)
|
rs2053411813
|
|
|
NM_007194.4(CHEK2):c.739G>C (p.Ala247Pro)
|
rs2053411813
|
|
|
NM_007194.4(CHEK2):c.739_751del (p.Ala247fs)
|
|
|
|
NM_007194.4(CHEK2):c.740C>A (p.Ala247Asp)
|
rs1064795978
|
|
|
NM_007194.4(CHEK2):c.740C>T (p.Ala247Val)
|
rs1064795978
|
|
|
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val)
|
rs779457035
|
|
|
NM_007194.4(CHEK2):c.742A>T (p.Ile248Leu)
|
rs779457035
|
|
|
NM_007194.4(CHEK2):c.743T>A (p.Ile248Lys)
|
rs2053411134
|
|
|
NM_007194.4(CHEK2):c.743T>C (p.Ile248Thr)
|
rs2053411134
|
|
|
NM_007194.4(CHEK2):c.743T>G (p.Ile248Arg)
|
rs2053411134
|
|
|
NM_007194.4(CHEK2):c.743del (p.Ile248fs)
|
|
|
|
NM_007194.4(CHEK2):c.743dup (p.Ile250fs)
|
rs2145950548
|
|
|
NM_007194.4(CHEK2):c.744A>G (p.Ile248Met)
|
|
|
|
NM_007194.4(CHEK2):c.745A>C (p.Lys249Gln)
|
rs1555921132
|
|
|
NM_007194.4(CHEK2):c.746A>G (p.Lys249Arg)
|
|
|
|
NM_007194.4(CHEK2):c.746A>T (p.Lys249Met)
|
rs1601783227
|
|
|
NM_007194.4(CHEK2):c.746dup (p.Ile250fs)
|
|
|
|
NM_007194.4(CHEK2):c.747G>C (p.Lys249Asn)
|
rs749366698
|
|
|
NM_007194.4(CHEK2):c.747G>T (p.Lys249Asn)
|
rs749366698
|
|
|
NM_007194.4(CHEK2):c.749T>C (p.Ile250Thr)
|
rs1060502719
|
|
|
NM_007194.4(CHEK2):c.749TCA[1] (p.Ile251del)
|
rs1601783129
|
|
|
NM_007194.4(CHEK2):c.750C>A (p.Ile250=)
|
rs1601783180
|
|
|
NM_007194.4(CHEK2):c.750_761del (p.Ile250_Arg254delinsMet)
|
|
|
|
NM_007194.4(CHEK2):c.750del (p.Ile251fs)
|
rs2145950251
|
|
|
NM_007194.4(CHEK2):c.752T>A (p.Ile251Asn)
|
rs2053410234
|
|
|
NM_007194.4(CHEK2):c.752T>C (p.Ile251Thr)
|
rs2053410234
|
|
|
NM_007194.4(CHEK2):c.754A>G (p.Ser252Gly)
|
rs780042868
|
|
|
NM_007194.4(CHEK2):c.756C>T (p.Ser252=)
|
rs2145949942
|
|
|
NM_007194.4(CHEK2):c.756del (p.Ser252fs)
|
|
|
|
NM_007194.4(CHEK2):c.757A>G (p.Lys253Glu)
|
rs786201896
|
|
|
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)
|
rs786201896
|
|
|
NM_007194.4(CHEK2):c.759A>C (p.Lys253Asn)
|
rs876658377
|
|
|
NM_007194.4(CHEK2):c.75T>C (p.Val25=)
|
rs1555932812
|
|
|
NM_007194.4(CHEK2):c.760A>C (p.Arg254=)
|
|
|
|
NM_007194.4(CHEK2):c.760del (p.Arg254fs)
|
rs2145949827
|
|
|
NM_007194.4(CHEK2):c.761G>A (p.Arg254Lys)
|
rs2053409162
|
|
|
NM_007194.4(CHEK2):c.762G>T (p.Arg254Ser)
|
rs878854922
|
|
|
NM_007194.4(CHEK2):c.762del (p.Lys255fs)
|
rs1131691044
|
|
|
NM_007194.4(CHEK2):c.763A>C (p.Lys255Gln)
|
|
|
|
NM_007194.4(CHEK2):c.763A>T (p.Lys255Ter)
|
rs2053408810
|
|
|
NM_007194.4(CHEK2):c.764A>G (p.Lys255Arg)
|
rs2145949631
|
|
|
NM_007194.4(CHEK2):c.765G>A (p.Lys255=)
|
rs750596640
|
|
|
NM_007194.4(CHEK2):c.768dup (p.Ala257fs)
|
rs2145949535
|
|
|
NM_007194.4(CHEK2):c.769G>C (p.Ala257Pro)
|
rs2053408556
|
|
|
NM_007194.4(CHEK2):c.76dup (p.Thr26fs)
|
|
|
|
NM_007194.4(CHEK2):c.770C>T (p.Ala257Val)
|
rs1060502717
|
|
|
NM_007194.4(CHEK2):c.772A>G (p.Ile258Val)
|
rs876658690
|
|
|
NM_007194.4(CHEK2):c.772A>T (p.Ile258Phe)
|
rs876658690
|
|
|
NM_007194.4(CHEK2):c.774_775del (p.Ile258fs)
|
rs2145949378
|
|
|
NM_007194.4(CHEK2):c.775G>T (p.Gly259Cys)
|
rs786201923
|
|
|
NM_007194.4(CHEK2):c.775_778del (p.Gly259fs)
|
|
|
|
NM_007194.4(CHEK2):c.776G>C (p.Gly259Ala)
|
rs1569140096
|
|
|
NM_007194.4(CHEK2):c.776del (p.Gly259fs)
|
rs2053407842
|
|
|
NM_007194.4(CHEK2):c.776dup (p.Ser260fs)
|
rs2053407842
|
|
|
NM_007194.4(CHEK2):c.777T>C (p.Gly259=)
|
rs876659828
|
|
|
NM_007194.4(CHEK2):c.777_780dup (p.Ala261fs)
|
|
|
|
NM_007194.4(CHEK2):c.778T>C (p.Ser260Pro)
|
|
|
|
NM_007194.4(CHEK2):c.779C>A (p.Ser260Ter)
|
rs1060502710
|
|
|
NM_007194.4(CHEK2):c.779C>G (p.Ser260Ter)
|
|
|
|
NM_007194.4(CHEK2):c.779C>T (p.Ser260Leu)
|
|
|
|
NM_007194.4(CHEK2):c.779del (p.Gly259_Ser260insTer)
|
rs2145949157
|
|
|
NM_007194.4(CHEK2):c.77C>A (p.Thr26Asn)
|
rs878854923
|
|
|
NM_007194.4(CHEK2):c.77C>T (p.Thr26Ile)
|
|
|
|
NM_007194.4(CHEK2):c.781G>T (p.Ala261Ser)
|
|
|
|
NM_007194.4(CHEK2):c.782del (p.Ala261fs)
|
|
|
|
NM_007194.4(CHEK2):c.783A>G (p.Ala261=)
|
rs2145949000
|
|
|
NM_007194.4(CHEK2):c.783_784del (p.Glu263fs)
|
rs1060502687
|
|
|
NM_007194.4(CHEK2):c.785G>A (p.Arg262Lys)
|
rs1601782873
|
|
|
NM_007194.4(CHEK2):c.786A>G (p.Arg262=)
|
rs2145948918
|
|
|
NM_007194.4(CHEK2):c.787G>A (p.Glu263Lys)
|
rs730881686
|
|
|
NM_007194.4(CHEK2):c.787G>T (p.Glu263Ter)
|
rs730881686
|
|
|
NM_007194.4(CHEK2):c.787_792+5dup
|
rs2145948560
|
|
|
NM_007194.4(CHEK2):c.788_789del (p.Glu263fs)
|
rs2145948828
|
|
|
NM_007194.4(CHEK2):c.789G>A (p.Glu263=)
|
|
|
|
NM_007194.4(CHEK2):c.789G>T (p.Glu263Asp)
|
rs1555921029
|
|
|
NM_007194.4(CHEK2):c.78C>G (p.Thr26=)
|
|
|
|
NM_007194.4(CHEK2):c.78C>T (p.Thr26=)
|
rs876658717
|
|
|
NM_007194.4(CHEK2):c.78_85del (p.Gln27fs)
|
rs1601853585
|
|
|
NM_007194.4(CHEK2):c.790G>T (p.Ala264Ser)
|
rs752493299
|
|
|
NM_007194.4(CHEK2):c.792+13A>G
|
rs2145948294
|
|
|
NM_007194.4(CHEK2):c.792+1G>A
|
rs1555921011
|
|
|
NM_007194.4(CHEK2):c.792+1G>C
|
|
|
|
NM_007194.4(CHEK2):c.792+2T>A
|
rs545982789
|
|
|
NM_007194.4(CHEK2):c.792+2T>G
|
rs545982789
|
|
|
NM_007194.4(CHEK2):c.792+2_792+17del
|
|
|
|
NM_007194.4(CHEK2):c.792+4A>G
|
rs1555921009
|
|
|
NM_007194.4(CHEK2):c.792+5G>A
|
rs876658514
|
|
|
NM_007194.4(CHEK2):c.792+5_792+7del
|
rs2053405998
|
|
|
NM_007194.4(CHEK2):c.792+6T>A
|
|
|
|
NM_007194.4(CHEK2):c.792+6T>C
|
|
|
|
NM_007194.4(CHEK2):c.792+6T>G
|
rs2145948490
|
|
|
NM_007194.4(CHEK2):c.792+7A>G
|
rs1601782720
|
|
|
NM_007194.4(CHEK2):c.792+7A>T
|
rs1601782720
|
|
|
NM_007194.4(CHEK2):c.792+9C>A
|
rs2145948378
|
|
|
NM_007194.4(CHEK2):c.792A>G (p.Ala264=)
|
rs2053406573
|
|
|
NM_007194.4(CHEK2):c.792_792+1del
|
rs774831804
|
|
|
NM_007194.4(CHEK2):c.793-10T>C
|
rs2053338194
|
|
|
NM_007194.4(CHEK2):c.793-110_846+2del
|
rs2145932387
|
|
|
NM_007194.4(CHEK2):c.793-12T>A
|
rs1555920271
|
|
|
NM_007194.4(CHEK2):c.793-12T>C
|
rs1555920271
|
|
|
NM_007194.4(CHEK2):c.793-12T>G
|
rs1555920271
|
|
|
NM_007194.4(CHEK2):c.793-15T>C
|
rs1297980569
|
|
|
NM_007194.4(CHEK2):c.793-15T>G
|
|
|
|
NM_007194.4(CHEK2):c.793-17T>G
|
rs778511901
|
|
|
NM_007194.4(CHEK2):c.793-19del
|
rs2145934693
|
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
|
NM_007194.4(CHEK2):c.793-1G>T
|
rs730881687
|
|
|
NM_007194.4(CHEK2):c.793-20T>A
|
rs2145934712
|
|
|
NM_007194.4(CHEK2):c.793-20T>G
|
|
|
|
NM_007194.4(CHEK2):c.793-21_793-20del
|
|
|
|
NM_007194.4(CHEK2):c.793-2A>G
|
rs1555920257
|
|
|
NM_007194.4(CHEK2):c.793-3A>C
|
|
|
|
NM_007194.4(CHEK2):c.793-3A>G
|
rs878854924
|
|
|
NM_007194.4(CHEK2):c.793-6T>A
|
|
|
|
NM_007194.4(CHEK2):c.793-7A>G
|
rs1569138057
|
|
|
NM_007194.4(CHEK2):c.793-8T>G
|
rs2145934407
|
|
|
NM_007194.4(CHEK2):c.793-9_793-8del
|
rs1480956379
|
|
|
NM_007194.4(CHEK2):c.793G>A (p.Asp265Asn)
|
rs1064793689
|
|
|
NM_007194.4(CHEK2):c.794A>G (p.Asp265Gly)
|
rs2053337433
|
|
|
NM_007194.4(CHEK2):c.796C>A (p.Pro266Thr)
|
rs1601777776
|
|
|
NM_007194.4(CHEK2):c.797C>T (p.Pro266Leu)
|
rs786203778
|
|
|
NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu)
|
rs376736188
|
|
|
NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter)
|
rs376736188
|
|
|
NM_007194.4(CHEK2):c.79del (p.Gln27fs)
|
rs2146153237
|
|
|
NM_007194.4(CHEK2):c.800C>T (p.Ala267Val)
|
rs2053336861
|
|
|
NM_007194.4(CHEK2):c.802C>G (p.Leu268Val)
|
rs766462610
|
|
|
NM_007194.4(CHEK2):c.802C>T (p.Leu268Phe)
|
rs766462610
|
|
|
NM_007194.4(CHEK2):c.803T>C (p.Leu268Pro)
|
rs2145933943
|
|
|
NM_007194.4(CHEK2):c.803_804del (p.Leu268fs)
|
rs2053336290
|
|
|
NM_007194.4(CHEK2):c.804C>T (p.Leu268=)
|
|
|
|
NM_007194.4(CHEK2):c.804_818del (p.Asn269_Glu273del)
|
rs2145933418
|
|
|
NM_007194.4(CHEK2):c.805A>G (p.Asn269Asp)
|
rs2053336086
|
|
|
NM_007194.4(CHEK2):c.806A>G (p.Asn269Ser)
|
|
|
|
NM_007194.4(CHEK2):c.806_807del (p.Asn269fs)
|
rs2053335818
|
|
|
NM_007194.4(CHEK2):c.808G>A (p.Val270Ile)
|
rs2053335680
|
|
|
NM_007194.4(CHEK2):c.808G>C (p.Val270Leu)
|
rs2053335680
|
|
|
NM_007194.4(CHEK2):c.808del (p.Val270fs)
|
|
|
|
NM_007194.4(CHEK2):c.809T>G (p.Val270Gly)
|
rs876660258
|
|
|
NM_007194.4(CHEK2):c.80A>C (p.Gln27Pro)
|
rs1060502697
|
|
|
NM_007194.4(CHEK2):c.80A>G (p.Gln27Arg)
|
rs1060502697
|
|
|
NM_007194.4(CHEK2):c.810T>C (p.Val270=)
|
rs1601777666
|
|
|
NM_007194.4(CHEK2):c.814A>G (p.Thr272Ala)
|
rs1426981647
|
|
|
NM_007194.4(CHEK2):c.815C>T (p.Thr272Ile)
|
rs2053334664
|
|
|
NM_007194.4(CHEK2):c.815del (p.Thr272fs)
|
|
|
|
NM_007194.4(CHEK2):c.816A>G (p.Thr272=)
|
|
|
|
NM_007194.4(CHEK2):c.817G>A (p.Glu273Lys)
|
rs587782152
|
|
|
NM_007194.4(CHEK2):c.817G>T (p.Glu273Ter)
|
|
|
|
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs)
|
rs1474786480
|
|
|
NM_007194.4(CHEK2):c.818A>G (p.Glu273Gly)
|
rs755666375
|
|
|
NM_007194.4(CHEK2):c.818A>T (p.Glu273Val)
|
rs755666375
|
|
|
NM_007194.4(CHEK2):c.819A>C (p.Glu273Asp)
|
rs2053333611
|
|
|
NM_007194.4(CHEK2):c.819A>T (p.Glu273Asp)
|
rs2053333611
|
|
|
NM_007194.4(CHEK2):c.81G>C (p.Gln27His)
|
rs2054333241
|
|
|
NM_007194.4(CHEK2):c.820dup (p.Ile274fs)
|
|
|
|
NM_007194.4(CHEK2):c.822A>C (p.Ile274=)
|
rs1601777559
|
|
|
NM_007194.4(CHEK2):c.823G>T (p.Glu275Ter)
|
rs749963436
|
|
|
NM_007194.4(CHEK2):c.823del (p.Glu275fs)
|
rs769430546
|
|
|
NM_007194.4(CHEK2):c.824A>G (p.Glu275Gly)
|
|
|
|
NM_007194.4(CHEK2):c.825A>T (p.Glu275Asp)
|
rs2145933082
|
|
|
NM_007194.4(CHEK2):c.826del (p.Ile276fs)
|
|
|
|
NM_007194.4(CHEK2):c.827T>A (p.Ile276Asn)
|
rs878854925
|
|
|
NM_007194.4(CHEK2):c.827T>C (p.Ile276Thr)
|
rs878854925
|
|
|
NM_007194.4(CHEK2):c.827T>G (p.Ile276Ser)
|
rs878854925
|
|
|
NM_007194.4(CHEK2):c.828T>C (p.Ile276=)
|
rs1601777471
|
|
|
NM_007194.4(CHEK2):c.828_830del (p.Ile276_Leu277delinsMet)
|
rs1569137812
|
|
|
NM_007194.4(CHEK2):c.829T>C (p.Leu277=)
|
|
|
|
NM_007194.4(CHEK2):c.82T>C (p.Ser28Pro)
|
|
|
|
NM_007194.4(CHEK2):c.82del (p.Ser28fs)
|
rs2146153089
|
|
|
NM_007194.4(CHEK2):c.830T>A (p.Leu277Ter)
|
rs1555920150
|
|
|
NM_007194.4(CHEK2):c.830T>C (p.Leu277Ser)
|
rs1555920150
|
|
|
NM_007194.4(CHEK2):c.830del (p.Ile276_Leu277insTer)
|
|
|
|
NM_007194.4(CHEK2):c.831G>C (p.Leu277Phe)
|
rs876659698
|
|
|
NM_007194.4(CHEK2):c.833A>T (p.Lys278Ile)
|
|
|
|
NM_007194.4(CHEK2):c.835A>T (p.Lys279Ter)
|
|
|
|
NM_007194.4(CHEK2):c.836del (p.Lys279fs)
|
rs1555920142
|
|
|
NM_007194.4(CHEK2):c.837G>C (p.Lys279Asn)
|
|
|
|
NM_007194.4(CHEK2):c.838C>T (p.Leu280=)
|
rs2145932680
|
|
|
NM_007194.4(CHEK2):c.839T>A (p.Leu280Gln)
|
rs1490781911
|
|
|
NM_007194.4(CHEK2):c.839T>C (p.Leu280Pro)
|
rs1490781911
|
|
|
NM_007194.4(CHEK2):c.839T>G (p.Leu280Arg)
|
rs1490781911
|
|
|
NM_007194.4(CHEK2):c.83C>A (p.Ser28Tyr)
|
|
|
|
NM_007194.4(CHEK2):c.83C>T (p.Ser28Phe)
|
|
|
|
NM_007194.4(CHEK2):c.840A>G (p.Leu280=)
|
|
|
|
NM_007194.4(CHEK2):c.841_842del (p.Asn281fs)
|
|
|
|
NM_007194.4(CHEK2):c.842A>C (p.Asn281Thr)
|
rs587782196
|
|
|
NM_007194.4(CHEK2):c.842dup (p.Asn281fs)
|
rs2053330207
|
|
|
NM_007194.4(CHEK2):c.843T>C (p.Asn281=)
|
rs2145932503
|
|
|
NM_007194.4(CHEK2):c.844C>A (p.His282Asn)
|
rs774068238
|
|
|
NM_007194.4(CHEK2):c.844C>T (p.His282Tyr)
|
rs774068238
|
|
|
NM_007194.4(CHEK2):c.844_846+16delinsTATTA
|
|
|
|
NM_007194.4(CHEK2):c.846+10A>G
|
rs1345067762
|
|
|
NM_007194.4(CHEK2):c.846+10A>T
|
rs1345067762
|
|
|
NM_007194.4(CHEK2):c.846+13A>G
|
rs2145932031
|
|
|
NM_007194.4(CHEK2):c.846+15A>G
|
|
|
|
NM_007194.4(CHEK2):c.846+15_846+16del
|
rs775989721
|
|
|
NM_007194.4(CHEK2):c.846+16T>C
|
rs2145931903
|
|
|
NM_007194.4(CHEK2):c.846+16_846+17insTTACATACTTAGATTTATTATTATACTTACATACTTA
|
rs2145931883
|
|
|
NM_007194.4(CHEK2):c.846+16dup
|
|
|
|
NM_007194.4(CHEK2):c.846+17G>A
|
|
|
|
NM_007194.4(CHEK2):c.846+18A>G
|
|
|
|
NM_007194.4(CHEK2):c.846+1G>A
|
rs864622149
|
|
|
NM_007194.4(CHEK2):c.846+1G>T
|
rs864622149
|
|
|
NM_007194.4(CHEK2):c.846+1_846+2delinsC
|
|
|
|
NM_007194.4(CHEK2):c.846+2T>A
|
rs1601777275
|
|
|
NM_007194.4(CHEK2):c.846+2T>C
|
rs1601777275
|
|
|
NM_007194.4(CHEK2):c.846+2T>G
|
|
|
|
NM_007194.4(CHEK2):c.846+2dup
|
rs1555920102
|
|
|
NM_007194.4(CHEK2):c.846+3A>C
|
|
|
|
NM_007194.4(CHEK2):c.846+3A>T
|
rs1476026799
|
|
|
NM_007194.4(CHEK2):c.846+4A>G
|
rs991112775
|
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
|
NM_007194.4(CHEK2):c.846+4del
|
rs2053328503
|
|
|
NM_007194.4(CHEK2):c.846+5G>T
|
rs764394796
|
|
|
NM_007194.4(CHEK2):c.846+6T>C
|
rs1555920090
|
|
|
NM_007194.4(CHEK2):c.846+7A>T
|
|
|
|
NM_007194.4(CHEK2):c.846+8T>G
|
rs1601777172
|
|
|
NM_007194.4(CHEK2):c.846+9del
|
rs1555920086
|
|
|
NM_007194.4(CHEK2):c.846T>A (p.His282Gln)
|
|
|
|
NM_007194.4(CHEK2):c.846T>C (p.His282=)
|
rs987815892
|
|
|
NM_007194.4(CHEK2):c.846T>G (p.His282Gln)
|
|
|
|
NM_007194.4(CHEK2):c.847-1002_908+1031del
|
|
|
|
NM_007194.4(CHEK2):c.847-10del
|
rs1060504694
|
|
|
NM_007194.4(CHEK2):c.847-11C>G
|
|
|
|
NM_007194.4(CHEK2):c.847-11_847-8dup
|
rs2145879303
|
|
|
NM_007194.4(CHEK2):c.847-12C>G
|
rs769724628
|
|
|
NM_007194.4(CHEK2):c.847-12C>T
|
|
|
|
NM_007194.4(CHEK2):c.847-12_847-2delinsTTG
|
|
|
|
NM_007194.4(CHEK2):c.847-13C>A
|
rs1250665442
|
|
|
NM_007194.4(CHEK2):c.847-14_847-13insGAA
|
|
|
|
NM_007194.4(CHEK2):c.847-14_847-13inv
|
|
|
|
NM_007194.4(CHEK2):c.847-14_847-2del
|
rs1293617484
|
|
|
NM_007194.4(CHEK2):c.847-14_847-2delinsGG
|
rs1555917041
|
|
|
NM_007194.4(CHEK2):c.847-16C>G
|
|
|
|
NM_007194.4(CHEK2):c.847-16C>T
|
|
|
|
NM_007194.4(CHEK2):c.847-17T>G
|
|
|
|
NM_007194.4(CHEK2):c.847-1G>A
|
rs878854926
|
|
|
NM_007194.4(CHEK2):c.847-1G>T
|
|
|
|
NM_007194.4(CHEK2):c.847-1_893del
|
|
|
|
NM_007194.4(CHEK2):c.847-21_847-15del
|
|
|
|
NM_007194.4(CHEK2):c.847-2A>C
|
|
|
|
NM_007194.4(CHEK2):c.847-2A>G
|
rs1601753141
|
|
|
NM_007194.4(CHEK2):c.847-2A>T
|
|
|
|
NM_007194.4(CHEK2):c.847-2_857del
|
rs2145878627
|
|
|
NM_007194.4(CHEK2):c.847-30_847-11dup
|
rs760398606
|
|
|
NM_007194.4(CHEK2):c.847-3T>G
|
rs1159089063
|
|
|
NM_007194.4(CHEK2):c.847-5C>G
|
rs1555917045
|
|
|
NM_007194.4(CHEK2):c.847-5_847-3del
|
|
|
|
NM_007194.4(CHEK2):c.847-6T>G
|
rs1555917050
|
|
|
NM_007194.4(CHEK2):c.847-7T>C
|
rs1057520267
|
|
|
NM_007194.4(CHEK2):c.847-8C>T
|
rs2145879286
|
|
|
NM_007194.4(CHEK2):c.847C>T (p.Pro283Ser)
|
rs1555917036
|
|
|
NM_007194.4(CHEK2):c.848C>A (p.Pro283His)
|
rs781222802
|
|
|
NM_007194.4(CHEK2):c.848C>T (p.Pro283Leu)
|
|
|
|
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.850T>C (p.Cys284Arg)
|
rs2052982636
|
|
|
NM_007194.4(CHEK2):c.850del (p.Cys284fs)
|
|
|
|
NM_007194.4(CHEK2):c.851del (p.Cys284fs)
|
|
|
|
NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter)
|
rs1555917031
|
|
|
NM_007194.4(CHEK2):c.852C>T (p.Cys284=)
|
rs1555917031
|
|
|
NM_007194.4(CHEK2):c.853A>G (p.Ile285Val)
|
rs1555917027
|
|
|
NM_007194.4(CHEK2):c.853A>T (p.Ile285Phe)
|
rs1555917027
|
|
|
NM_007194.4(CHEK2):c.854TCA[1] (p.Ile286del)
|
rs1555917015
|
|
|
NM_007194.4(CHEK2):c.855C>T (p.Ile285=)
|
rs756692505
|
|
|
NM_007194.4(CHEK2):c.856A>C (p.Ile286Leu)
|
rs986132746
|
|
|
NM_007194.4(CHEK2):c.856A>G (p.Ile286Val)
|
rs986132746
|
|
|
NM_007194.4(CHEK2):c.856A>T (p.Ile286Phe)
|
rs986132746
|
|
|
NM_007194.4(CHEK2):c.857T>C (p.Ile286Thr)
|
rs1555917019
|
|
|
NM_007194.4(CHEK2):c.858C>A (p.Ile286=)
|
rs2145878513
|
|
|
NM_007194.4(CHEK2):c.858C>T (p.Ile286=)
|
rs2145878513
|
|
|
NM_007194.4(CHEK2):c.860A>T (p.Lys287Met)
|
rs876659184
|
|
|
NM_007194.4(CHEK2):c.860del (p.Lys287fs)
|
rs886039731
|
|
|
NM_007194.4(CHEK2):c.861G>T (p.Lys287Asn)
|
|
|
|
NM_007194.4(CHEK2):c.862A>G (p.Ile288Val)
|
|
|
|
NM_007194.4(CHEK2):c.862A>T (p.Ile288Phe)
|
rs1341939689
|
|
|
NM_007194.4(CHEK2):c.865A>T (p.Lys289Ter)
|
|
|
|
NM_007194.4(CHEK2):c.865_876del (p.Lys289_Phe292del)
|
rs2145877927
|
|
|
NM_007194.4(CHEK2):c.869del (p.Asn290fs)
|
rs1422634212
|
|
|
NM_007194.4(CHEK2):c.86A>C (p.Gln29Pro)
|
rs876660019
|
|
|
NM_007194.4(CHEK2):c.86A>G (p.Gln29Arg)
|
rs876660019
|
|
|
NM_007194.4(CHEK2):c.870C>A (p.Asn290Lys)
|
rs2052980129
|
|
|
NM_007194.4(CHEK2):c.870_871insCTAC (p.Phe291fs)
|
rs2052980434
|
|
|
NM_007194.4(CHEK2):c.870del (p.Phe292fs)
|
rs1555916987
|
|
|
NM_007194.4(CHEK2):c.871T>A (p.Phe291Ile)
|
rs2052980010
|
|
|
NM_007194.4(CHEK2):c.873T>C (p.Phe291=)
|
|
|
|
NM_007194.4(CHEK2):c.874T>A (p.Phe292Ile)
|
|
|
|
NM_007194.4(CHEK2):c.875_876del (p.Phe291_Phe292insTer)
|
rs772683219
|
|
|
NM_007194.4(CHEK2):c.876del (p.Phe292fs)
|
rs772683219
|
|
|
NM_007194.4(CHEK2):c.876dup (p.Asp293Ter)
|
rs772683219
|
|
|
NM_007194.4(CHEK2):c.877G>A (p.Asp293Asn)
|
rs876658152
|
|
|
NM_007194.4(CHEK2):c.877G>C (p.Asp293His)
|
|
|
|
NM_007194.4(CHEK2):c.877del (p.Asp293fs)
|
|
|
|
NM_007194.4(CHEK2):c.878A>C (p.Asp293Ala)
|
rs932236548
|
|
|
NM_007194.4(CHEK2):c.878A>G (p.Asp293Gly)
|
rs932236548
|
|
|
NM_007194.4(CHEK2):c.879T>C (p.Asp293=)
|
rs1601752583
|
|
|
NM_007194.4(CHEK2):c.879del (p.Asp293fs)
|
rs1555916968
|
|
|
NM_007194.4(CHEK2):c.87A>G (p.Gln29=)
|
rs951525447
|
|
|
NM_007194.4(CHEK2):c.87_107dup (p.Ser31_Gly37dup)
|
rs762863407
|
|
|
NM_007194.4(CHEK2):c.880G>A (p.Ala294Thr)
|
rs2145877658
|
|
|
NM_007194.4(CHEK2):c.881C>G (p.Ala294Gly)
|
rs1555916963
|
|
|
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.883G>A (p.Glu295Lys)
|
rs1345979642
|
|
|
NM_007194.4(CHEK2):c.883G>C (p.Glu295Gln)
|
rs1345979642
|
|
|
NM_007194.4(CHEK2):c.884A>G (p.Glu295Gly)
|
rs751136808
|
|
|
NM_007194.4(CHEK2):c.885A>G (p.Glu295=)
|
rs1555916935
|
|
|
NM_007194.4(CHEK2):c.885A>T (p.Glu295Asp)
|
rs1555916935
|
|
|
NM_007194.4(CHEK2):c.886G>A (p.Asp296Asn)
|
rs876659553
|
|
|
NM_007194.4(CHEK2):c.886G>C (p.Asp296His)
|
rs876659553
|
|
|
NM_007194.4(CHEK2):c.887A>G (p.Asp296Gly)
|
rs777397542
|
|
|
NM_007194.4(CHEK2):c.887A>T (p.Asp296Val)
|
rs777397542
|
|
|
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu)
|
rs876660742
|
|
|
NM_007194.4(CHEK2):c.888_908+2dup
|
|
|
|
NM_007194.4(CHEK2):c.88G>A (p.Gly30Ser)
|
rs1555932749
|
|
|
NM_007194.4(CHEK2):c.891T>A (p.Tyr297Ter)
|
|
|
|
NM_007194.4(CHEK2):c.891T>C (p.Tyr297=)
|
|
|
|
NM_007194.4(CHEK2):c.891_908+3del
|
rs2145876703
|
|
|
NM_007194.4(CHEK2):c.892T>G (p.Tyr298Asp)
|
rs878854927
|
|
|
NM_007194.4(CHEK2):c.892del (p.Tyr298fs)
|
rs2145877300
|
|
|
NM_007194.4(CHEK2):c.893A>C (p.Tyr298Ser)
|
|
|
|
NM_007194.4(CHEK2):c.893A>G (p.Tyr298Cys)
|
rs1569128113
|
|
|
NM_007194.4(CHEK2):c.893A>T (p.Tyr298Phe)
|
|
|
|
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs)
|
rs1390889028
|
|
|
NM_007194.4(CHEK2):c.893dup (p.Tyr298Ter)
|
|
|
|
NM_007194.4(CHEK2):c.894T>A (p.Tyr298Ter)
|
|
|
|
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)
|
rs876659519
|
|
|
NM_007194.4(CHEK2):c.894dup (p.Ile299fs)
|
|
|
|
NM_007194.4(CHEK2):c.895A>G (p.Ile299Val)
|
rs1555916906
|
|
|
NM_007194.4(CHEK2):c.895A>T (p.Ile299Phe)
|
|
|
|
NM_007194.4(CHEK2):c.896T>A (p.Ile299Asn)
|
rs876659870
|
|
|
NM_007194.4(CHEK2):c.896T>C (p.Ile299Thr)
|
rs876659870
|
|
|
NM_007194.4(CHEK2):c.896T>G (p.Ile299Ser)
|
rs876659870
|
|
|
NM_007194.4(CHEK2):c.897T>G (p.Ile299Met)
|
|
|
|
NM_007194.4(CHEK2):c.897del (p.Ile299fs)
|
|
|
|
NM_007194.4(CHEK2):c.898G>A (p.Val300Ile)
|
rs1171168822
|
|
|
NM_007194.4(CHEK2):c.898G>T (p.Val300Phe)
|
|
|
|
NM_007194.4(CHEK2):c.898del (p.Val300fs)
|
|
|
|
NM_007194.4(CHEK2):c.899T>G (p.Val300Gly)
|
rs1467276809
|
|
|
NM_007194.4(CHEK2):c.8G>C (p.Arg3Pro)
|
rs779607427
|
|
|
NM_007194.4(CHEK2):c.8G>T (p.Arg3Leu)
|
rs779607427
|
|
|
NM_007194.4(CHEK2):c.900T>G (p.Val300=)
|
rs1601752225
|
|
|
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)
|
rs886039739
|
|
|
NM_007194.4(CHEK2):c.902T>C (p.Leu301Ser)
|
rs886039739
|
|
|
NM_007194.4(CHEK2):c.902T>G (p.Leu301Trp)
|
rs886039739
|
|
|
NM_007194.4(CHEK2):c.902del (p.Leu301fs)
|
rs748005072
|
|
|
NM_007194.4(CHEK2):c.903_908+26del
|
rs2145876249
|
|
|
NM_007194.4(CHEK2):c.904G>C (p.Glu302Gln)
|
rs587782460
|
|
|
NM_007194.4(CHEK2):c.904G>T (p.Glu302Ter)
|
|
|
|
NM_007194.4(CHEK2):c.905A>T (p.Glu302Val)
|
|
|
|
NM_007194.4(CHEK2):c.906del (p.Glu302fs)
|
rs2052974883
|
|
|
NM_007194.4(CHEK2):c.907T>C (p.Leu303=)
|
rs752359705
|
|
|
NM_007194.4(CHEK2):c.908+10A>C
|
|
|
|
NM_007194.4(CHEK2):c.908+11A>T
|
rs1555916864
|
|
|
NM_007194.4(CHEK2):c.908+13C>G
|
rs2145876482
|
|
|
NM_007194.4(CHEK2):c.908+14T>A
|
|
|
|
NM_007194.4(CHEK2):c.908+14T>G
|
rs538313507
|
|
|
NM_007194.4(CHEK2):c.908+1540_1095+330del
|
|
|
|
NM_007194.4(CHEK2):c.908+16T>C
|
rs1198651411
|
|
|
NM_007194.4(CHEK2):c.908+17_908+18del
|
rs778668907
|
|
|
NM_007194.4(CHEK2):c.908+18T>C
|
rs755416802
|
|
|
NM_007194.4(CHEK2):c.908+18del
|
rs778668907
|
|
|
NM_007194.4(CHEK2):c.908+18dup
|
|
|
|
NM_007194.4(CHEK2):c.908+19A>G
|
rs759973493
|
|
|
NM_007194.4(CHEK2):c.908+1G>A
|
rs587781699
|
|
|
NM_007194.4(CHEK2):c.908+1G>C
|
rs587781699
|
|
|
NM_007194.4(CHEK2):c.908+1G>T
|
rs587781699
|
|
|
NM_007194.4(CHEK2):c.908+1_908+13delinsTTTAAAA
|
|
|
|
NM_007194.4(CHEK2):c.908+2T>A
|
rs1601752066
|
|
|
NM_007194.4(CHEK2):c.908+2T>C
|
rs1601752066
|
|
|
NM_007194.4(CHEK2):c.908+2dup
|
|
|
|
NM_007194.4(CHEK2):c.908+3A>C
|
|
|
|
NM_007194.4(CHEK2):c.908+3A>T
|
rs1601752050
|
|
|
NM_007194.4(CHEK2):c.908+4A>G
|
rs2145876658
|
|
|
NM_007194.4(CHEK2):c.908+4A>T
|
|
|
|
NM_007194.4(CHEK2):c.908+4del
|
rs1555916874
|
|
|
NM_007194.4(CHEK2):c.908+5G>A
|
rs1064796016
|
|
|
NM_007194.4(CHEK2):c.908+5G>C
|
rs1064796016
|
|
|
NM_007194.4(CHEK2):c.908+6T>A
|
rs748988275
|
|
|
NM_007194.4(CHEK2):c.908+6T>C
|
rs748988275
|
|
|
NM_007194.4(CHEK2):c.908+6del
|
rs2052973458
|
|
|
NM_007194.4(CHEK2):c.908+715_1095+298del
|
|
|
|
NM_007194.4(CHEK2):c.908+7A>G
|
rs2052973187
|
|
|
NM_007194.4(CHEK2):c.908+7A>T
|
rs2052973187
|
|
|
NM_007194.4(CHEK2):c.908+8G>A
|
rs1555916871
|
|
|
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter)
|
rs1233699096
|
|
|
NM_007194.4(CHEK2):c.908T>G (p.Leu303Trp)
|
rs1233699096
|
|
|
NM_007194.4(CHEK2):c.909-10T>A
|
|
|
|
NM_007194.4(CHEK2):c.909-10T>C
|
rs864622231
|
|
|
NM_007194.4(CHEK2):c.909-10T>G
|
rs864622231
|
|
|
NM_007194.4(CHEK2):c.909-14C>T
|
rs2145845553
|
|
|
NM_007194.4(CHEK2):c.909-14_909-9del
|
|
|
|
NM_007194.4(CHEK2):c.909-15G>A
|
rs2145845569
|
|
|
NM_007194.4(CHEK2):c.909-18C>A
|
|
|
|
NM_007194.4(CHEK2):c.909-19C>T
|
rs1555915594
|
|
|
NM_007194.4(CHEK2):c.909-1G>A
|
rs886039721
|
|
|
NM_007194.4(CHEK2):c.909-1G>C
|
rs886039721
|
|
|
NM_007194.4(CHEK2):c.909-1G>T
|
rs886039721
|
|
|
NM_007194.4(CHEK2):c.909-1_909delinsAC
|
|
|
|
NM_007194.4(CHEK2):c.909-20G>A
|
rs2145845675
|
|
|
NM_007194.4(CHEK2):c.909-20G>T
|
|
|
|
NM_007194.4(CHEK2):c.909-28_909-20del
|
rs1555915597
|
|
|
NM_007194.4(CHEK2):c.909-29_909-12del
|
|
|
|
NM_007194.4(CHEK2):c.909-2A>G
|
rs1555915589
|
|
|
NM_007194.4(CHEK2):c.909-3C>G
|
rs1569121928
|
|
|
NM_007194.4(CHEK2):c.909-3C>T
|
rs1569121928
|
|
|
NM_007194.4(CHEK2):c.909-3del
|
rs2145845352
|
|
|
NM_007194.4(CHEK2):c.909-49_1095+51del
|
|
|
|
NM_007194.4(CHEK2):c.909-4del
|
rs2145845390
|
|
|
NM_007194.4(CHEK2):c.909-5T>A
|
rs2145845414
|
|
|
NM_007194.4(CHEK2):c.909-6T>A
|
|
|
|
NM_007194.4(CHEK2):c.909-7G>A
|
rs2145845433
|
|
|
NM_007194.4(CHEK2):c.909-8T>C
|
rs1569121935
|
|
|
NM_007194.4(CHEK2):c.909G>A (p.Leu303=)
|
rs786202256
|
|
|
NM_007194.4(CHEK2):c.90C>T (p.Gly30=)
|
rs1555932724
|
|
|
NM_007194.4(CHEK2):c.90CTC[2] (p.Ser33del)
|
rs1569171353
|
|
|
NM_007194.4(CHEK2):c.910A>T (p.Met304Leu)
|
rs769436449
|
|
|
NM_007194.4(CHEK2):c.911T>G (p.Met304Arg)
|
rs587782033
|
|
|
NM_007194.4(CHEK2):c.914A>G (p.Glu305Gly)
|
rs587783052
|
|
|
NM_007194.4(CHEK2):c.916G>A (p.Gly306Arg)
|
rs587783051
|
|
|
NM_007194.4(CHEK2):c.916G>T (p.Gly306Trp)
|
rs587783051
|
|
|
NM_007194.4(CHEK2):c.917G>A (p.Gly306Glu)
|
rs587780192
|
|
|
NM_007194.4(CHEK2):c.917G>T (p.Gly306Val)
|
rs587780192
|
|
|
NM_007194.4(CHEK2):c.918G>C (p.Gly306=)
|
rs1057523756
|
|
|
NM_007194.4(CHEK2):c.919G>A (p.Gly307Arg)
|
rs1555915533
|
|
|
NM_007194.4(CHEK2):c.919G>C (p.Gly307Arg)
|
|
|
|
NM_007194.4(CHEK2):c.919G>T (p.Gly307Ter)
|
rs1555915533
|
|
|
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs)
|
rs786203053
|
|
|
NM_007194.4(CHEK2):c.919_920dup (p.Leu309fs)
|
|
|
|
NM_007194.4(CHEK2):c.919_940del (p.Gly307fs)
|
rs2145844027
|
|
|
NM_007194.4(CHEK2):c.91T>C (p.Ser31Pro)
|
|
|
|
NM_007194.4(CHEK2):c.91_111dup (p.Ser31_Gly37dup)
|
rs876658135
|
|
|
NM_007194.4(CHEK2):c.91del (p.Ser31fs)
|
|
|
|
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu)
|
rs876661053
|
|
|
NM_007194.4(CHEK2):c.920del (p.Gly307fs)
|
rs786203053
|
|
|
NM_007194.4(CHEK2):c.920dup (p.Glu308fs)
|
rs786203053
|
|
|
NM_007194.4(CHEK2):c.921A>C (p.Gly307=)
|
rs1601739316
|
|
|
NM_007194.4(CHEK2):c.921del (p.Glu308fs)
|
|
|
|
NM_007194.4(CHEK2):c.922G>A (p.Glu308Lys)
|
|
|
|
NM_007194.4(CHEK2):c.923A>G (p.Glu308Gly)
|
rs2145844660
|
|
|
NM_007194.4(CHEK2):c.923_987del (p.Glu308fs)
|
|
|
|
NM_007194.4(CHEK2):c.924G>T (p.Glu308Asp)
|
rs1601739269
|
|
|
NM_007194.4(CHEK2):c.924_925delinsAA (p.Leu309Met)
|
rs1569121657
|
|
|
NM_007194.4(CHEK2):c.925C>G (p.Leu309Val)
|
rs786202521
|
|
|
NM_007194.4(CHEK2):c.925C>T (p.Leu309=)
|
rs786202521
|
|
|
NM_007194.4(CHEK2):c.926dup (p.Phe310fs)
|
|
|
|
NM_007194.4(CHEK2):c.927G>A (p.Leu309=)
|
rs746952353
|
|
|
NM_007194.4(CHEK2):c.928T>G (p.Phe310Val)
|
rs2052767851
|
|
|
NM_007194.4(CHEK2):c.929T>G (p.Phe310Cys)
|
|
|
|
NM_007194.4(CHEK2):c.92C>G (p.Ser31Cys)
|
|
|
|
NM_007194.4(CHEK2):c.92C>T (p.Ser31Phe)
|
rs1555932714
|
|
|
NM_007194.4(CHEK2):c.930T>C (p.Phe310=)
|
|
|
|
NM_007194.4(CHEK2):c.931G>C (p.Asp311His)
|
rs587782347
|
|
|
NM_007194.4(CHEK2):c.932A>G (p.Asp311Gly)
|
rs1569121571
|
|
|
NM_007194.4(CHEK2):c.935A>C (p.Lys312Thr)
|
rs1157311218
|
|
|
NM_007194.4(CHEK2):c.935A>G (p.Lys312Arg)
|
rs1157311218
|
|
|
NM_007194.4(CHEK2):c.938T>C (p.Val313Ala)
|
rs1039682955
|
|
|
NM_007194.4(CHEK2):c.938T>G (p.Val313Gly)
|
|
|
|
NM_007194.4(CHEK2):c.938del (p.Val313fs)
|
rs2052766776
|
|
|
NM_007194.4(CHEK2):c.939G>A (p.Val313=)
|
rs1555915485
|
|
|
NM_007194.4(CHEK2):c.940G>T (p.Val314Leu)
|
rs778573074
|
|
|
NM_007194.4(CHEK2):c.941del (p.Val314fs)
|
rs1601738999
|
|
|
NM_007194.4(CHEK2):c.942G>A (p.Val314=)
|
rs1057520467
|
|
|
NM_007194.4(CHEK2):c.943G>A (p.Gly315Arg)
|
rs1569121455
|
|
|
NM_007194.4(CHEK2):c.944G>A (p.Gly315Glu)
|
rs1555915471
|
|
|
NM_007194.4(CHEK2):c.945G>T (p.Gly315=)
|
rs876659711
|
|
|
NM_007194.4(CHEK2):c.945del (p.Asn316fs)
|
rs2052765649
|
|
|
NM_007194.4(CHEK2):c.948T>A (p.Asn316Lys)
|
rs1569121419
|
|
|
NM_007194.4(CHEK2):c.948del (p.Asn316fs)
|
rs2052765413
|
|
|
NM_007194.4(CHEK2):c.94del (p.Ser32fs)
|
rs2146152456
|
|
|
NM_007194.4(CHEK2):c.950A>G (p.Lys317Arg)
|
rs1601738869
|
|
|
NM_007194.4(CHEK2):c.951A>G (p.Lys317=)
|
|
|
|
NM_007194.4(CHEK2):c.952del (p.Arg318fs)
|
rs749153163
|
|
|
NM_007194.4(CHEK2):c.953G>C (p.Arg318Pro)
|
rs143611747
|
|
|
NM_007194.4(CHEK2):c.953G>T (p.Arg318Leu)
|
rs143611747
|
|
|
NM_007194.4(CHEK2):c.954C>G (p.Arg318=)
|
|
|
|
NM_007194.4(CHEK2):c.955C>G (p.Leu319Val)
|
rs1057524600
|
|
|
NM_007194.4(CHEK2):c.955C>T (p.Leu319=)
|
rs1057524600
|
|
|
NM_007194.4(CHEK2):c.956T>G (p.Leu319Arg)
|
rs766794072
|
|
|
NM_007194.4(CHEK2):c.956del (p.Leu319fs)
|
|
|
|
NM_007194.4(CHEK2):c.957G>A (p.Leu319=)
|
rs1310156280
|
|
|
NM_007194.4(CHEK2):c.958A>G (p.Lys320Glu)
|
rs587782480
|
|
|
NM_007194.4(CHEK2):c.960A>G (p.Lys320=)
|
rs1237880782
|
|
|
NM_007194.4(CHEK2):c.960A>T (p.Lys320Asn)
|
rs1237880782
|
|
|
NM_007194.4(CHEK2):c.961G>A (p.Glu321Lys)
|
rs1555915433
|
|
|
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter)
|
rs1555915433
|
|
|
NM_007194.4(CHEK2):c.963del (p.Ala322fs)
|
rs2052762437
|
|
|
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro)
|
rs750984976
|
|
|
NM_007194.4(CHEK2):c.968C>T (p.Thr323Ile)
|
rs2052761923
|
|
|
NM_007194.4(CHEK2):c.968_969del (p.Thr323fs)
|
rs2145842905
|
|
|
NM_007194.4(CHEK2):c.969C>T (p.Thr323=)
|
rs2145842868
|
|
|
NM_007194.4(CHEK2):c.96C>G (p.Ser32=)
|
rs1601853447
|
|
|
NM_007194.4(CHEK2):c.96C>T (p.Ser32=)
|
|
|
|
NM_007194.4(CHEK2):c.971G>A (p.Cys324Tyr)
|
rs1569121161
|
|
|
NM_007194.4(CHEK2):c.971del (p.Cys324fs)
|
rs1569121172
|
|
|
NM_007194.4(CHEK2):c.972C>G (p.Cys324Trp)
|
rs1060502712
|
|
|
NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu)
|
rs587780193
|
|
|
NM_007194.4(CHEK2):c.974A>C (p.Lys325Thr)
|
|
|
|
NM_007194.4(CHEK2):c.974A>G (p.Lys325Arg)
|
rs767656411
|
|
|
NM_007194.4(CHEK2):c.974del (p.Lys325fs)
|
rs1555915409
|
|
|
NM_007194.4(CHEK2):c.975G>A (p.Lys325=)
|
rs2145842576
|
|
|
NM_007194.4(CHEK2):c.975G>T (p.Lys325Asn)
|
|
|
|
NM_007194.4(CHEK2):c.975_978del (p.Lys325fs)
|
|
|
|
NM_007194.4(CHEK2):c.976C>G (p.Leu326Val)
|
rs2052760821
|
|
|
NM_007194.4(CHEK2):c.976C>T (p.Leu326Phe)
|
|
|
|
NM_007194.4(CHEK2):c.977T>C (p.Leu326Pro)
|
rs2145842493
|
|
|
NM_007194.4(CHEK2):c.978C>T (p.Leu326=)
|
rs1057521868
|
|
|
NM_007194.4(CHEK2):c.979dup (p.Tyr327fs)
|
rs1555915392
|
|
|
NM_007194.4(CHEK2):c.981T>C (p.Tyr327=)
|
rs1601738446
|
|
|
NM_007194.4(CHEK2):c.982T>C (p.Phe328Leu)
|
rs2052760168
|
|
|
NM_007194.4(CHEK2):c.985del (p.Tyr329fs)
|
rs1569121048
|
|
|
NM_007194.4(CHEK2):c.985dup (p.Tyr329fs)
|
|
|
|
NM_007194.4(CHEK2):c.986A>C (p.Tyr329Ser)
|
rs774685647
|
|
|
NM_007194.4(CHEK2):c.986A>G (p.Tyr329Cys)
|
rs774685647
|
|
|
NM_007194.4(CHEK2):c.986dup (p.Tyr329Ter)
|
|
|
|
NM_007194.4(CHEK2):c.987C>A (p.Tyr329Ter)
|
|
|
|
NM_007194.4(CHEK2):c.987C>G (p.Tyr329Ter)
|
|
|
|
NM_007194.4(CHEK2):c.988C>G (p.Gln330Glu)
|
rs768973809
|
|
|
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter)
|
rs768973809
|
|
|
NM_007194.4(CHEK2):c.989A>G (p.Gln330Arg)
|
rs894075046
|
|
|
NM_007194.4(CHEK2):c.989del (p.Gln330fs)
|
rs2052759328
|
|
|
NM_007194.4(CHEK2):c.98C>A (p.Ser33Ter)
|
rs2054331180
|
|
|
NM_007194.4(CHEK2):c.98C>G (p.Ser33Ter)
|
|
|
|
NM_007194.4(CHEK2):c.990G>C (p.Gln330His)
|
|
|
|
NM_007194.4(CHEK2):c.990G>T (p.Gln330His)
|
rs9625537
|
|
|
NM_007194.4(CHEK2):c.990del (p.Met331fs)
|
rs1601738338
|
|
|
NM_007194.4(CHEK2):c.991A>G (p.Met331Val)
|
rs1555915357
|
|
|
NM_007194.4(CHEK2):c.992T>A (p.Met331Lys)
|
rs1555915352
|
|
|
NM_007194.4(CHEK2):c.992T>C (p.Met331Thr)
|
rs1555915352
|
|
|
NM_007194.4(CHEK2):c.992_999delinsGCTT (p.Met331fs)
|
|
|
|
NM_007194.4(CHEK2):c.993G>A (p.Met331Ile)
|
rs2052758465
|
|
|
NM_007194.4(CHEK2):c.993G>C (p.Met331Ile)
|
rs2052758465
|
|
|
NM_007194.4(CHEK2):c.993del (p.Met331fs)
|
|
|
|
NM_007194.4(CHEK2):c.994C>A (p.Leu332Ile)
|
rs1555915348
|
|
|
NM_007194.4(CHEK2):c.994C>G (p.Leu332Val)
|
rs1555915348
|
|
|
NM_007194.4(CHEK2):c.994C>T (p.Leu332Phe)
|
rs1555915348
|
|
|
NM_007194.4(CHEK2):c.995T>A (p.Leu332His)
|
rs1555915337
|
|
|
NM_007194.4(CHEK2):c.995T>C (p.Leu332Pro)
|
rs1555915337
|
|
|
NM_007194.4(CHEK2):c.995T>G (p.Leu332Arg)
|
rs1555915337
|
|
|
NM_007194.4(CHEK2):c.995del (p.Leu332fs)
|
rs2052758032
|
|
|
NM_007194.4(CHEK2):c.996C>G (p.Leu332=)
|
|
|
|
NM_007194.4(CHEK2):c.996_1006del (p.Leu333fs)
|
rs2145841388
|
|
|
NM_007194.4(CHEK2):c.998T>A (p.Leu333Ter)
|
rs2145841647
|
|
|
NM_007194.4(CHEK2):c.99A>G (p.Ser33=)
|
rs925489951
|
|
|
NM_007194.4(CHEK2):c.99del (p.Gln34fs)
|
|
|
|
NM_007194.4:c.(908+1_909-1)_(1095+1_1096-1)del
|
|
|
|
NM_007294.3(BRCA1):c.135-?_441+?del
|
|
|
|
NM_007294.3(BRCA1):c.2995C>A (p.Leu999Ile)
|
rs80356848
|
|
|
NM_007294.3(BRCA1):c.302-?_441+?(2)
|
|
|
|
NM_007294.3(BRCA1):c.4186-?_4675+?del
|
|
|
|
NM_007294.3(BRCA1):c.4186-?_4986+?del
|
|
|
|
NM_007294.3(BRCA1):c.4358-?_5277+?del
|
|
|
|
NM_007294.3(BRCA1):c.442-?_547+?(2)
|
|
|
|
NM_007294.3(BRCA1):c.4485-?_4986+?del
|
|
|
|
NM_007294.3(BRCA1):c.4987-?_5074+?del
|
|
|
|
NM_007294.3(BRCA1):c.548-?_5193+?del
|
|
|
|
NM_007294.3(BRCA1):c.548delG
|
rs397509289
|
|
|
NM_007294.3(BRCA1):c.?-232_4484+?del
|
|
|
|
NM_007294.3:c.134+19insT
|
|
|
|
NM_007294.3:c.1363insT
|
|
|
|
NM_007294.3:c.3764insA
|
|
|
|
NM_007294.3:c.441+6insA
|
|
|
|
NM_007294.4(BRCA1):c.*39G>A
|
|
|
|
NM_007294.4(BRCA1):c.-107A>T
|
rs2154580237
|
|
|
NM_007294.4(BRCA1):c.-9C>G
|
rs1555601059
|
|
|
NM_007294.4(BRCA1):c.1016del (p.Lys339fs)
|
rs80357569
|
|
|
NM_007294.4(BRCA1):c.1033G>T (p.Asp345Tyr)
|
rs80356961
|
|
|
NM_007294.4(BRCA1):c.1040del (p.Leu347fs)
|
rs397508828
|
|
|
NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter)
|
rs80356935
|
|
|
NM_007294.4(BRCA1):c.1061del (p.Asn354fs)
|
rs2154478354
|
|
|
NM_007294.4(BRCA1):c.1063A>T (p.Lys355Ter)
|
rs397508829
|
|
|
NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter)
|
rs80357215
|
|
|
NM_007294.4(BRCA1):c.1076C>T (p.Pro359Leu)
|
rs397508831
|
|
|
NM_007294.4(BRCA1):c.1080_1081insA (p.Ser361fs)
|
rs397508832
|
|
|
NM_007294.4(BRCA1):c.1099A>G (p.Thr367Ala)
|
rs878854929
|
|
|
NM_007294.4(BRCA1):c.1099dup (p.Thr367fs)
|
rs397508835
|
|
|
NM_007294.4(BRCA1):c.1100del (p.Thr367fs)
|
rs2154476126
|
|
|
NM_007294.4(BRCA1):c.1100dup (p.Thr367_Glu368insTer)
|
rs397508836
|
|
|
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)
|
rs80356880
|
|
|
NM_007294.4(BRCA1):c.1112del (p.Pro371fs)
|
rs397508837
|
|
|
NM_007294.4(BRCA1):c.1119A>G (p.Ile373Met)
|
|
|
|
NM_007294.4(BRCA1):c.1119_1120insCTGA (p.Thr374fs)
|
rs2154475092
|
|
|
NM_007294.4(BRCA1):c.1122_1123del (p.Leu375fs)
|
rs397508839
|
|
|
NM_007294.4(BRCA1):c.1140dup (p.Lys381fs)
|
rs876659327
|
|
|
NM_007294.4(BRCA1):c.1158_1159del (p.Ser387fs)
|
rs397508842
|
|
|
NM_007294.4(BRCA1):c.1159dup (p.Ser387fs)
|
rs397508842
|
|
|
NM_007294.4(BRCA1):c.1165del (p.Ser389fs)
|
rs80357985
|
|
|
NM_007294.4(BRCA1):c.1175_1178del (p.Leu392fs)
|
rs397508844
|
|
|
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)
|
rs80359874
|
|
|
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter)
|
rs886040898
|
|
|
NM_007294.4(BRCA1):c.1193C>A (p.Ser398Ter)
|
rs80357068
|
|
|
NM_007294.4(BRCA1):c.1195_1196del (p.Ser398_His399insTer)
|
rs2154471163
|
|
|
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
|
rs80357859
|
|
|
NM_007294.4(BRCA1):c.1217del (p.Asn406fs)
|
rs397508846
|
|
|
NM_007294.4(BRCA1):c.1222A>G (p.Lys408Glu)
|
rs80357253
|
|
|
NM_007294.4(BRCA1):c.1224del (p.Lys408_Val409insTer)
|
rs879255320
|
|
|
NM_007294.4(BRCA1):c.122del (p.His41fs)
|
rs397508847
|
|
|
NM_007294.4(BRCA1):c.1232A>T (p.Asp411Val)
|
rs730881469
|
|
|
NM_007294.4(BRCA1):c.1253A>C (p.Glu418Ala)
|
rs1555592050
|
|
|
NM_007294.4(BRCA1):c.1255G>C (p.Val419Leu)
|
rs876658873
|
|
|
NM_007294.4(BRCA1):c.1261G>T (p.Glu421Ter)
|
rs80357046
|
|
|
NM_007294.4(BRCA1):c.1262A>G (p.Glu421Gly)
|
rs397508849
|
|
|
NM_007294.4(BRCA1):c.1265_1266dup (p.Ser423fs)
|
rs397508850
|
|
|
NM_007294.4(BRCA1):c.1279G>T (p.Glu427Ter)
|
rs397508851
|
|
|
NM_007294.4(BRCA1):c.1293_1295delinsGA (p.Leu432fs)
|
rs397508852
|
|
|
NM_007294.4(BRCA1):c.130T>C (p.Cys44Arg)
|
rs80357327
|
|
|
NM_007294.4(BRCA1):c.130T>G (p.Cys44Gly)
|
rs80357327
|
|
|
NM_007294.4(BRCA1):c.1319dup (p.Leu440fs)
|
rs80357683
|
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
|
NM_007294.4(BRCA1):c.1320_1330del (p.Leu440_Ile441insTer)
|
rs2154458213
|
|
|
NM_007294.4(BRCA1):c.1325_1326dup (p.Lys443fs)
|
rs80357543
|
|
|
NM_007294.4(BRCA1):c.1339dup (p.Val447fs)
|
rs397508855
|
|
|
NM_007294.4(BRCA1):c.134+3A>G
|
rs80358064
|
|
|
NM_007294.4(BRCA1):c.134A>G (p.Lys45Arg)
|
rs80356863
|
|
|
NM_007294.4(BRCA1):c.135-6T>G
|
rs397508859
|
|
|
NM_007294.4(BRCA1):c.1363_1364insGA (p.Asn455fs)
|
rs397508860
|
|
|
NM_007294.4(BRCA1):c.1380del (p.Phe461fs)
|
rs397508863
|
|
|
NM_007294.4(BRCA1):c.1387A>G (p.Lys463Glu)
|
rs1135401844
|
|
|
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs)
|
rs80357770
|
|
|
NM_007294.4(BRCA1):c.1390_1391insG (p.Thr464fs)
|
rs397508867
|
|
|
NM_007294.4(BRCA1):c.1393T>G (p.Tyr465Asp)
|
rs397508869
|
|
|
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs)
|
rs879255476
|
|
|
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)
|
rs80357150
|
|
|
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val)
|
rs1397842308
|
|
|
NM_007294.4(BRCA1):c.1458T>A (p.Phe486Leu)
|
rs80357400
|
|
|
NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter)
|
rs62625303
|
|
|
NM_007294.4(BRCA1):c.1483G>T (p.Glu495Ter)
|
rs2053932763
|
|
|
NM_007294.4(BRCA1):c.1499_1508dup (p.Lys503_Arg504insTer)
|
rs397508873
|
|
|
NM_007294.4(BRCA1):c.1499del (p.Asn500fs)
|
rs397508874
|
|
|
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)
|
rs80357888
|
|
|
NM_007294.4(BRCA1):c.1504_1518del (p.Leu502_Arg506del)
|
rs397508875
|
|
|
NM_007294.4(BRCA1):c.1506_1510del (p.Leu502_Lys503insTer)
|
rs397508876
|
|
|
NM_007294.4(BRCA1):c.1508del (p.Lys503fs)
|
rs80357506
|
|
|
NM_007294.4(BRCA1):c.1517_1521del (p.Arg506fs)
|
rs397508879
|
|
|
NM_007294.4(BRCA1):c.1519A>T (p.Arg507Ter)
|
rs397508880
|
|
|
NM_007294.4(BRCA1):c.1544A>G (p.Glu515Gly)
|
rs397508881
|
|
|
NM_007294.4(BRCA1):c.1565_1566insC (p.Leu523fs)
|
rs397508884
|
|
|
NM_007294.4(BRCA1):c.1570del (p.Ala524fs)
|
rs397508886
|
|
|
NM_007294.4(BRCA1):c.1595_1601del (p.Ile532fs)
|
rs397508888
|
|
|
NM_007294.4(BRCA1):c.160del (p.Gln54fs)
|
rs397508890
|
|
|
NM_007294.4(BRCA1):c.1631A>C (p.Gln544Pro)
|
rs397508892
|
|
|
NM_007294.4(BRCA1):c.1642A>G (p.Ile548Val)
|
rs80356981
|
|
|
NM_007294.4(BRCA1):c.164A>G (p.Lys55Arg)
|
rs2054786724
|
|
|
NM_007294.4(BRCA1):c.1655G>T (p.Gly552Val)
|
rs397508893
|
|
|
NM_007294.4(BRCA1):c.1660G>T (p.Glu554Ter)
|
rs397508894
|
|
|
NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp)
|
rs876659028
|
|
|
NM_007294.4(BRCA1):c.1669A>G (p.Thr557Ala)
|
rs397508895
|
|
|
NM_007294.4(BRCA1):c.1674del (p.Gly559fs)
|
rs80357600
|
|
|
NM_007294.4(BRCA1):c.167A>G (p.Lys56Arg)
|
rs397508897
|
|
|
NM_007294.4(BRCA1):c.168A>T (p.Lys56Asn)
|
rs397508898
|
|
|
NM_007294.4(BRCA1):c.1690A>C (p.Asn564His)
|
rs397507191
|
|
|
NM_007294.4(BRCA1):c.1700del (p.Asn567fs)
|
rs80357784
|
|
|
NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter)
|
rs730881473
|
|
|
NM_007294.4(BRCA1):c.1716dup (p.Ser573fs)
|
rs397508900
|
|
|
NM_007294.4(BRCA1):c.1728del (p.Glu577fs)
|
rs397507192
|
|
|
NM_007294.4(BRCA1):c.1741A>T (p.Lys581Ter)
|
rs397508905
|
|
|
NM_007294.4(BRCA1):c.1744A>G (p.Thr582Ala)
|
rs397508906
|
|
|
NM_007294.4(BRCA1):c.1771A>G (p.Ile591Val)
|
rs1064795358
|
|
|
NM_007294.4(BRCA1):c.178_179del (p.Gln60fs)
|
rs397508907
|
|
|
NM_007294.4(BRCA1):c.1796_1799del (p.Asn599fs)
|
rs1380657206
|
|
|
NM_007294.4(BRCA1):c.1817del (p.Pro606fs)
|
rs397508910
|
|
|
NM_007294.4(BRCA1):c.1824_1826del (p.Lys608del)
|
rs587781614
|
|
|
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del)
|
rs80358329
|
|
|
NM_007294.4(BRCA1):c.1846dup (p.Ser616fs)
|
rs397508914
|
|
|
NM_007294.4(BRCA1):c.1848_1861del (p.Thr617fs)
|
rs2154416271
|
|
|
NM_007294.4(BRCA1):c.1863T>C (p.His621=)
|
rs786201460
|
|
|
NM_007294.4(BRCA1):c.1880T>G (p.Val627Gly)
|
rs770002293
|
|
|
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs)
|
rs80357567
|
|
|
NM_007294.4(BRCA1):c.1886G>T (p.Arg629Ile)
|
rs876660144
|
|
|
NM_007294.4(BRCA1):c.188T>C (p.Leu63Ser)
|
rs80357086
|
|
|
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)
|
rs80357064
|
|
|
NM_007294.4(BRCA1):c.190_193del (p.Cys64fs)
|
rs397508917
|
|
|
NM_007294.4(BRCA1):c.1912del (p.Glu638fs)
|
rs80357933
|
|
|
NM_007294.4(BRCA1):c.1932T>G (p.Cys644Trp)
|
rs397508918
|
|
|
NM_007294.4(BRCA1):c.1952del (p.Lys651fs)
|
rs80357885
|
|
|
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)
|
rs80357526
|
|
|
NM_007294.4(BRCA1):c.1960A>G (p.Lys654Glu)
|
rs80357355
|
|
|
NM_007294.4(BRCA1):c.1960_1961del (p.Lys654fs)
|
rs80357522
|
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
|
NM_007294.4(BRCA1):c.1963dup (p.Tyr655fs)
|
rs397508924
|
|
|
NM_007294.4(BRCA1):c.1967A>G (p.Asn656Ser)
|
rs397508925
|
|
|
NM_007294.4(BRCA1):c.1A>G (p.Met1Val)
|
rs80357287
|
|
|
NM_007294.4(BRCA1):c.2012_2013dup (p.Lys672fs)
|
rs397508928
|
|
|
NM_007294.4(BRCA1):c.2021del (p.Pro674fs)
|
rs397508930
|
|
|
NM_007294.4(BRCA1):c.2028_2029del (p.Gly677fs)
|
rs397508931
|
|
|
NM_007294.4(BRCA1):c.203T>C (p.Ile68Thr)
|
rs80357116
|
|
|
NM_007294.4(BRCA1):c.2048del (p.Lys683fs)
|
rs397508933
|
|
|
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter)
|
rs273898674
|
|
|
NM_007294.4(BRCA1):c.2069A>G (p.Lys690Arg)
|
rs2154401162
|
|
|
NM_007294.4(BRCA1):c.2075_2076del (p.His692fs)
|
rs397508936
|
|
|
NM_007294.4(BRCA1):c.2079C>G (p.Asp693Glu)
|
|
|
|
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr)
|
rs28897681
|
|
|
NM_007294.4(BRCA1):c.2086del (p.Thr696fs)
|
rs397508937
|
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
|
NM_007294.4(BRCA1):c.211dup (p.Arg71fs)
|
rs397508938
|
|
|
NM_007294.4(BRCA1):c.212+10T>G
|
rs80358174
|
|
|
NM_007294.4(BRCA1):c.212+1G>T
|
rs80358042
|
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
|
NM_007294.4(BRCA1):c.2131_2132del (p.Lys711fs)
|
rs398122653
|
|
|
NM_007294.4(BRCA1):c.2166del (p.Asn723fs)
|
rs397508943
|
|
|
NM_007294.4(BRCA1):c.2174del (p.Ser725fs)
|
rs397508944
|
|
|
NM_007294.4(BRCA1):c.2188G>T (p.Glu730Ter)
|
rs80357058
|
|
|
NM_007294.4(BRCA1):c.2196del (p.Glu733fs)
|
rs397508948
|
|
|
NM_007294.4(BRCA1):c.2210C>G (p.Thr737Arg)
|
rs2154392997
|
|
|
NM_007294.4(BRCA1):c.2211_2212del (p.Thr737_Val738insTer)
|
rs397508950
|
|
|
NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs)
|
rs80357802
|
|
|
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=)
|
rs4986846
|
|
|
NM_007294.4(BRCA1):c.2241dup (p.Lys748fs)
|
rs80357650
|
|
|
NM_007294.4(BRCA1):c.2253_2254del (p.Met751fs)
|
rs80357602
|
|
|
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter)
|
rs41286296
|
|
|
NM_007294.4(BRCA1):c.2263del (p.Glu755fs)
|
rs80357960
|
|
|
NM_007294.4(BRCA1):c.2268G>T (p.Arg756Ser)
|
rs80356884
|
|
|
NM_007294.4(BRCA1):c.2308del (p.Ser770fs)
|
rs397508956
|
|
|
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)
|
rs80357063
|
|
|
NM_007294.4(BRCA1):c.230C>G (p.Thr77Arg)
|
rs80357209
|
|
|
NM_007294.4(BRCA1):c.230delinsGTCAACTTGTT (p.Thr77fs)
|
rs397508957
|
|
|
NM_007294.4(BRCA1):c.2310_2311insC (p.Val772fs)
|
rs1555589947
|
|
|
NM_007294.4(BRCA1):c.2325_2326insA (p.Asp776fs)
|
rs397508959
|
|
|
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs)
|
rs431825390
|
|
|
NM_007294.4(BRCA1):c.2333G>A (p.Gly778Asp)
|
rs730881483
|
|
|
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)
|
rs80356945
|
|
|
NM_007294.4(BRCA1):c.2365del (p.Ser789fs)
|
rs2154381368
|
|
|
NM_007294.4(BRCA1):c.2389del (p.Glu797fs)
|
rs397508965
|
|
|
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)
|
rs80357664
|
|
|
NM_007294.4(BRCA1):c.2413T>C (p.Cys805Arg)
|
rs397508966
|
|
|
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)
|
rs80357350
|
|
|
NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly)
|
rs397507201
|
|
|
NM_007294.4(BRCA1):c.2433C>T (p.Pro811=)
|
rs1555589666
|
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
|
NM_007294.4(BRCA1):c.2440_2441insA (p.Leu814fs)
|
rs397508969
|
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
|
NM_007294.4(BRCA1):c.2486_2487del (p.Gly828_Phe829insTer)
|
rs80357658
|
|
|
NM_007294.4(BRCA1):c.2489_2492del (p.Lys830fs)
|
rs886040043
|
|
|
NM_007294.4(BRCA1):c.2536G>T (p.Glu846Ter)
|
rs786203523
|
|
|
NM_007294.4(BRCA1):c.2551del (p.Glu851fs)
|
rs397508977
|
|
|
NM_007294.4(BRCA1):c.2556del (p.Asp853fs)
|
rs397508978
|
|
|
NM_007294.4(BRCA1):c.2556dup (p.Asp853Ter)
|
rs397508978
|
|
|
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter)
|
rs80357131
|
|
|
NM_007294.4(BRCA1):c.2564_2565insTTGAT (p.Gln855delinsHisTer)
|
rs397508982
|
|
|
NM_007294.4(BRCA1):c.2594del (p.Lys865fs)
|
rs80357756
|
|
|
NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter)
|
rs886038001
|
|
|
NM_007294.4(BRCA1):c.2600A>G (p.Gln867Arg)
|
rs397508985
|
|
|
NM_007294.4(BRCA1):c.2603C>A (p.Ser868Ter)
|
rs80356925
|
|
|
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)
|
rs799917
|
|
|
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter)
|
rs80357251
|
|
|
NM_007294.4(BRCA1):c.2649A>C (p.Ala883=)
|
rs2154366693
|
|
|
NM_007294.4(BRCA1):c.2659_2660insA (p.Ala887fs)
|
rs397508991
|
|
|
NM_007294.4(BRCA1):c.2663A>C (p.His888Pro)
|
rs876658843
|
|
|
NM_007294.4(BRCA1):c.2663A>T (p.His888Leu)
|
rs876658843
|
|
|
NM_007294.4(BRCA1):c.2665dup (p.Ser889fs)
|
rs397508992
|
|
|
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg)
|
rs80357200
|
|
|
NM_007294.4(BRCA1):c.266T>C (p.Ile89Thr)
|
rs80357097
|
|
|
NM_007294.4(BRCA1):c.2671del (p.Ser891fs)
|
rs397508993
|
|
|
NM_007294.4(BRCA1):c.2675T>C (p.Leu892Ser)
|
rs397508994
|
|
|
NM_007294.4(BRCA1):c.2679_2680del (p.Lys894fs)
|
rs397508995
|
|
|
NM_007294.4(BRCA1):c.2683del (p.Gln895fs)
|
rs2154364983
|
|
|
NM_007294.4(BRCA1):c.2689_2690insA (p.Pro897fs)
|
rs397508999
|
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
|
NM_007294.4(BRCA1):c.2728C>T (p.Gln910Ter)
|
rs397509004
|
|
|
NM_007294.4(BRCA1):c.273T>G (p.Cys91Trp)
|
rs397509006
|
|
|
NM_007294.4(BRCA1):c.2745dup (p.Asn916Ter)
|
rs397509008
|
|
|
NM_007294.4(BRCA1):c.2756del (p.Pro919fs)
|
rs2154361062
|
|
|
NM_007294.4(BRCA1):c.2762A>G (p.Gln921Arg)
|
rs1555588991
|
|
|
NM_007294.4(BRCA1):c.2764_2767del (p.Thr922fs)
|
rs80357822
|
|
|
NM_007294.4(BRCA1):c.2798_2799del (p.Gly933fs)
|
rs397509011
|
|
|
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)
|
rs80357223
|
|
|
NM_007294.4(BRCA1):c.2802del (p.Asp936fs)
|
rs2053694038
|
|
|
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs)
|
rs80357832
|
|
|
NM_007294.4(BRCA1):c.2812_2813del (p.Pro938fs)
|
rs730882056
|
|
|
NM_007294.4(BRCA1):c.2827A>T (p.Lys943Ter)
|
rs2154357524
|
|
|
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs)
|
rs386134270
|
|
|
NM_007294.4(BRCA1):c.2844_2853del (p.Gly949fs)
|
rs397509017
|
|
|
NM_007294.4(BRCA1):c.2848dup (p.Ser950fs)
|
rs397509018
|
|
|
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)
|
rs80357819
|
|
|
NM_007294.4(BRCA1):c.2870dup (p.Phe958fs)
|
rs397509020
|
|
|
NM_007294.4(BRCA1):c.2872_2876del (p.Phe958fs)
|
rs397509021
|
|
|
NM_007294.4(BRCA1):c.2879G>A (p.Gly960Asp)
|
rs397509022
|
|
|
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)
|
rs864622444
|
|
|
NM_007294.4(BRCA1):c.2881A>C (p.Asn961His)
|
rs786203786
|
|
|
NM_007294.4(BRCA1):c.2921dup (p.Leu974fs)
|
rs80357611
|
|
|
NM_007294.4(BRCA1):c.2929_2930dup (p.Tyr978fs)
|
rs397509025
|
|
|
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)
|
rs80357115
|
|
|
NM_007294.4(BRCA1):c.2938del (p.Ile980fs)
|
rs730881439
|
|
|
NM_007294.4(BRCA1):c.2952del (p.Ile986fs)
|
rs80357627
|
|
|
NM_007294.4(BRCA1):c.2967del (p.Phe989fs)
|
rs397509028
|
|
|
NM_007294.4(BRCA1):c.2998G>A (p.Glu1000Lys)
|
rs80357124
|
|
|
NM_007294.4(BRCA1):c.2_80+4del
|
rs2154576469
|
|
|
NM_007294.4(BRCA1):c.3016del (p.His1006fs)
|
rs2154347100
|
|
|
NM_007294.4(BRCA1):c.302-167_441+3del
|
rs2154548547
|
|
|
NM_007294.4(BRCA1):c.302-1G>A
|
rs80358116
|
|
|
NM_007294.4(BRCA1):c.3037G>A (p.Glu1013Lys)
|
rs1555588500
|
|
|
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs)
|
rs80357856
|
|
|
NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter)
|
rs80357004
|
|
|
NM_007294.4(BRCA1):c.3058C>T (p.Pro1020Ser)
|
|
|
|
NM_007294.4(BRCA1):c.3072C>G (p.Ser1024Arg)
|
rs397509033
|
|
|
NM_007294.4(BRCA1):c.3074C>T (p.Thr1025Ile)
|
rs397509034
|
|
|
NM_007294.4(BRCA1):c.3075A>C (p.Thr1025=)
|
rs786201258
|
|
|
NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr)
|
rs80357386
|
|
|
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter)
|
rs273899698
|
|
|
NM_007294.4(BRCA1):c.3104T>C (p.Val1035Ala)
|
rs1555588389
|
|
|
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala)
|
rs16941
|
|
|
NM_007294.4(BRCA1):c.3122C>T (p.Ser1041Leu)
|
rs397509035
|
|
|
NM_007294.4(BRCA1):c.3125_3134del (p.Ser1042fs)
|
rs397509036
|
|
|
NM_007294.4(BRCA1):c.3140T>C (p.Val1047Ala)
|
rs397509037
|
|
|
NM_007294.4(BRCA1):c.3152C>G (p.Thr1051Ser)
|
rs397509039
|
|
|
NM_007294.4(BRCA1):c.3157del (p.Glu1053fs)
|
rs397509041
|
|
|
NM_007294.4(BRCA1):c.3157dup (p.Glu1053fs)
|
rs397509042
|
|
|
NM_007294.4(BRCA1):c.3164del (p.Gly1055fs)
|
rs397509043
|
|
|
NM_007294.4(BRCA1):c.3169_3172del (p.Ser1057fs)
|
rs397509045
|
|
|
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter)
|
rs80357424
|
|
|
NM_007294.4(BRCA1):c.3179A>C (p.Glu1060Ala)
|
rs80357184
|
|
|
NM_007294.4(BRCA1):c.3183del (p.Ile1061fs)
|
rs397509046
|
|
|
NM_007294.4(BRCA1):c.3185G>T (p.Gly1062Val)
|
rs397507211
|
|
|
NM_007294.4(BRCA1):c.3211dup (p.Glu1071fs)
|
rs397509047
|
|
|
NM_007294.4(BRCA1):c.3225_3226del (p.Asn1075fs)
|
rs2154335955
|
|
|
NM_007294.4(BRCA1):c.3228A>T (p.Arg1076Ser)
|
rs397509048
|
|
|
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)
|
rs80357635
|
|
|
NM_007294.4(BRCA1):c.3243_3288dup (p.Ser1097delinsCysTyrAlaTer)
|
rs1555588016
|
|
|
NM_007294.4(BRCA1):c.3247A>G (p.Met1083Val)
|
rs397507213
|
|
|
NM_007294.4(BRCA1):c.3247_3251del (p.Ala1082_Met1083insTer)
|
rs1135401859
|
|
|
NM_007294.4(BRCA1):c.3279del (p.Tyr1094fs)
|
rs397509050
|
|
|
NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)
|
rs80357485
|
|
|
NM_007294.4(BRCA1):c.3289del (p.Ser1097fs)
|
rs80357686
|
|
|
NM_007294.4(BRCA1):c.329A>C (p.Lys110Thr)
|
rs397509053
|
|
|
NM_007294.4(BRCA1):c.329dup (p.Glu111fs)
|
rs80357604
|
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
|
NM_007294.4(BRCA1):c.3333del (p.Glu1112fs)
|
rs80357966
|
|
|
NM_007294.4(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer)
|
rs80357945
|
|
|
NM_007294.4(BRCA1):c.3359_3363del (p.Val1120fs)
|
rs397509060
|
|
|
NM_007294.4(BRCA1):c.3365C>T (p.Thr1122Ile)
|
rs2053599251
|
|
|
NM_007294.4(BRCA1):c.3374C>A (p.Ser1125Tyr)
|
rs1555587835
|
|
|
NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu)
|
rs80357136
|
|
|
NM_007294.4(BRCA1):c.340T>C (p.Ser114Pro)
|
rs397509062
|
|
|
NM_007294.4(BRCA1):c.3413del (p.Gly1138fs)
|
rs397509063
|
|
|
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del)
|
rs80358337
|
|
|
NM_007294.4(BRCA1):c.3416del (p.Ser1139fs)
|
rs397509064
|
|
|
NM_007294.4(BRCA1):c.3420dup (p.His1141fs)
|
rs397509065
|
|
|
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro)
|
rs80357101
|
|
|
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs)
|
rs397509067
|
|
|
NM_007294.4(BRCA1):c.3437G>C (p.Cys1146Ser)
|
rs80357247
|
|
|
NM_007294.4(BRCA1):c.3450del (p.Asp1151fs)
|
rs397509068
|
|
|
NM_007294.4(BRCA1):c.3450dup (p.Asp1151Ter)
|
rs397509069
|
|
|
NM_007294.4(BRCA1):c.3468del (p.Asp1156fs)
|
rs397509070
|
|
|
NM_007294.4(BRCA1):c.346G>A (p.Glu116Lys)
|
rs397509071
|
|
|
NM_007294.4(BRCA1):c.3476del (p.Ile1159fs)
|
rs2154311311
|
|
|
NM_007294.4(BRCA1):c.3479_3488del (p.Lys1160fs)
|
rs397509073
|
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
|
NM_007294.4(BRCA1):c.3481del (p.Glu1161fs)
|
rs397509074
|
|
|
NM_007294.4(BRCA1):c.3491G>T (p.Ser1164Ile)
|
rs397509075
|
|
|
NM_007294.4(BRCA1):c.3505_3509del (p.Asn1168_Asp1169insTer)
|
rs397509078
|
|
|
NM_007294.4(BRCA1):c.3540_3541del (p.Val1181fs)
|
rs397509080
|
|
|
NM_007294.4(BRCA1):c.3549_3550del (p.Gly1184fs)
|
rs730882057
|
|
|
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp)
|
rs587779368
|
|
|
NM_007294.4(BRCA1):c.3563G>T (p.Arg1188Met)
|
rs2154303009
|
|
|
NM_007294.4(BRCA1):c.3575_3576insAA (p.Phe1193fs)
|
rs397509082
|
|
|
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)
|
rs62625307
|
|
|
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His)
|
rs56214134
|
|
|
NM_007294.4(BRCA1):c.3613G>C (p.Gly1205Arg)
|
rs80357294
|
|
|
NM_007294.4(BRCA1):c.3621_3626delinsAA (p.Leu1209fs)
|
rs397509087
|
|
|
NM_007294.4(BRCA1):c.3626T>G (p.Leu1209Ter)
|
rs786203884
|
|
|
NM_007294.4(BRCA1):c.3626dup (p.Leu1209fs)
|
rs80357571
|
|
|
NM_007294.4(BRCA1):c.3635C>T (p.Ser1212Leu)
|
rs886038021
|
|
|
NM_007294.4(BRCA1):c.3647T>G (p.Leu1216Ter)
|
rs397509091
|
|
|
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs)
|
rs80357902
|
|
|
NM_007294.4(BRCA1):c.3649dup (p.Ser1217fs)
|
rs1555587345
|
|
|
NM_007294.4(BRCA1):c.3660T>C (p.Asp1220=)
|
rs1365746397
|
|
|
NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter)
|
rs80357310
|
|
|
NM_007294.4(BRCA1):c.3681A>T (p.Gln1227His)
|
rs730881488
|
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
|
NM_007294.4(BRCA1):c.3715del (p.Ser1239fs)
|
rs397509096
|
|
|
NM_007294.4(BRCA1):c.3716dup (p.Gln1240fs)
|
rs397509097
|
|
|
NM_007294.4(BRCA1):c.3722C>G (p.Ser1241Cys)
|
rs80357143
|
|
|
NM_007294.4(BRCA1):c.3728G>C (p.Arg1243Thr)
|
|
|
|
NM_007294.4(BRCA1):c.3737C>A (p.Thr1246Asn)
|
rs878854949
|
|
|
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)
|
rs28897686
|
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
|
NM_007294.4(BRCA1):c.3758C>A (p.Ser1253Tyr)
|
rs397509100
|
|
|
NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs)
|
rs80357520
|
|
|
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs)
|
rs80357579
|
|
|
NM_007294.4(BRCA1):c.3771_3778del (p.Glu1257fs)
|
rs397509104
|
|
|
NM_007294.4(BRCA1):c.3772G>T (p.Glu1258Ter)
|
rs397509105
|
|
|
NM_007294.4(BRCA1):c.3782T>G (p.Leu1261Ter)
|
rs397507219
|
|
|
NM_007294.4(BRCA1):c.3794del (p.Asn1265fs)
|
rs80357767
|
|
|
NM_007294.4(BRCA1):c.3809G>A (p.Cys1270Tyr)
|
rs1207787135
|
|
|
NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter)
|
rs80357208
|
|
|
NM_007294.4(BRCA1):c.3822_3823insT (p.Ile1275fs)
|
rs397509111
|
|
|
NM_007294.4(BRCA1):c.3823dup (p.Ile1275fs)
|
rs2154283296
|
|
|
NM_007294.4(BRCA1):c.3829G>C (p.Ala1277Pro)
|
rs397509112
|
|
|
NM_007294.4(BRCA1):c.3833del (p.Lys1278fs)
|
rs1135401868
|
|
|
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter)
|
rs80356866
|
|
|
NM_007294.4(BRCA1):c.3871_3872insC (p.Cys1291fs)
|
rs397509114
|
|
|
NM_007294.4(BRCA1):c.3876T>C (p.Ser1292=)
|
rs2154279505
|
|
|
NM_007294.4(BRCA1):c.3876del (p.Ala1293fs)
|
rs397509115
|
|
|
NM_007294.4(BRCA1):c.3880_3883del (p.Ser1294fs)
|
rs397509116
|
|
|
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)
|
rs80357440
|
|
|
NM_007294.4(BRCA1):c.38_39delinsGGG (p.Asn13fs)
|
rs1567823382
|
|
|
NM_007294.4(BRCA1):c.3914dup (p.Asp1305fs)
|
rs2154277394
|
|
|
NM_007294.4(BRCA1):c.3927_3930del (p.Asn1309fs)
|
rs397509120
|
|
|
NM_007294.4(BRCA1):c.3982del (p.Ser1328fs)
|
rs2053490037
|
|
|
NM_007294.4(BRCA1):c.3982dup (p.Ser1328fs)
|
rs397509124
|
|
|
NM_007294.4(BRCA1):c.3999del (p.Gly1334fs)
|
rs397509125
|
|
|
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile)
|
rs80357475
|
|
|
NM_007294.4(BRCA1):c.4001G>A (p.Gly1334Asp)
|
rs2053486938
|
|
|
NM_007294.4(BRCA1):c.4029TGA[1] (p.Asp1344del)
|
rs397509129
|
|
|
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)
|
rs80357711
|
|
|
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)
|
rs80357727
|
|
|
NM_007294.4(BRCA1):c.4048G>A (p.Gly1350Ser)
|
rs748674194
|
|
|
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)
|
rs80357202
|
|
|
NM_007294.4(BRCA1):c.4062_4066del (p.Asn1354fs)
|
rs886040192
|
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
|
NM_007294.4(BRCA1):c.4072G>A (p.Glu1358Lys)
|
rs397509136
|
|
|
NM_007294.4(BRCA1):c.4083G>A (p.Met1361Ile)
|
rs374192364
|
|
|
NM_007294.4(BRCA1):c.4094del (p.Asn1364_Leu1365insTer)
|
rs397509138
|
|
|
NM_007294.4(BRCA1):c.4096+3A>G
|
rs80358015
|
|
|
NM_007294.4(BRCA1):c.4096+4T>C
|
rs1597859326
|
|
|
NM_007294.4(BRCA1):c.4097-141A>C
|
rs799916
|
|
|
NM_007294.4(BRCA1):c.4116T>A (p.Cys1372Ter)
|
rs397509140
|
|
|
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)
|
rs80357259
|
|
|
NM_007294.4(BRCA1):c.4161_4162del (p.Gln1388fs)
|
rs80357565
|
|
|
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)
|
rs80357572
|
|
|
NM_007294.4(BRCA1):c.4167del (p.Ser1389fs)
|
rs397509145
|
|
|
NM_007294.4(BRCA1):c.4172T>C (p.Ile1391Thr)
|
rs397509146
|
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
|
NM_007294.4(BRCA1):c.4183_4185delCAG (p.Gln1396del)
|
rs397509147
|
|
|
NM_007294.4(BRCA1):c.4185+11TG[5]
|
rs273900723
|
|
|
NM_007294.4(BRCA1):c.4185+14G>C
|
rs762153716
|
|
|
NM_007294.4(BRCA1):c.4185+1G>A
|
rs80358076
|
|
|
NM_007294.4(BRCA1):c.4186-1G>A
|
rs397509150
|
|
|
NM_007294.4(BRCA1):c.4211T>G (p.Leu1404Arg)
|
rs80356916
|
|
|
NM_007294.4(BRCA1):c.4237G>T (p.Glu1413Ter)
|
rs397509153
|
|
|
NM_007294.4(BRCA1):c.4237del (p.Glu1413fs)
|
rs2154157535
|
|
|
NM_007294.4(BRCA1):c.4242_4243insT (p.Glu1415Ter)
|
rs397509155
|
|
|
NM_007294.4(BRCA1):c.4251_4252del (p.Leu1418fs)
|
rs80357977
|
|
|
NM_007294.4(BRCA1):c.4253T>G (p.Leu1418Ter)
|
rs397509157
|
|
|
NM_007294.4(BRCA1):c.4273C>T (p.Pro1425Ser)
|
rs768327850
|
|
|
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)
|
rs80356991
|
|
|
NM_007294.4(BRCA1):c.4282_4283del (p.Ser1428fs)
|
rs397509159
|
|
|
NM_007294.4(BRCA1):c.4307_4308del (p.Ser1436fs)
|
rs397509161
|
|
|
NM_007294.4(BRCA1):c.4318G>C (p.Glu1440Gln)
|
rs1555584070
|
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
|
NM_007294.4(BRCA1):c.4333C>A (p.Pro1445Thr)
|
rs876660684
|
|
|
NM_007294.4(BRCA1):c.4342del (p.Ser1448fs)
|
rs886040225
|
|
|
NM_007294.4(BRCA1):c.4343G>C (p.Ser1448Thr)
|
rs80357354
|
|
|
NM_007294.4(BRCA1):c.4357+4T>C
|
rs1555583978
|
|
|
NM_007294.4(BRCA1):c.4357+6T>G
|
rs80358143
|
|
|
NM_007294.4(BRCA1):c.436T>C (p.Ser146Pro)
|
rs1555596290
|
|
|
NM_007294.4(BRCA1):c.4372_4373del (p.Gln1458fs)
|
rs879255317
|
|
|
NM_007294.4(BRCA1):c.437_440del (p.Ser146fs)
|
rs397509168
|
|
|
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs)
|
rs273900730
|
|
|
NM_007294.4(BRCA1):c.4391dup (p.Ile1465fs)
|
rs80357916
|
|
|
NM_007294.4(BRCA1):c.4393A>C (p.Ile1465Leu)
|
rs1567779778
|
|
|
NM_007294.4(BRCA1):c.4396del (p.Ser1466fs)
|
rs397509170
|
|
|
NM_007294.4(BRCA1):c.4406dup (p.Glu1470fs)
|
rs2052734372
|
|
|
NM_007294.4(BRCA1):c.441+17del
|
rs730881449
|
|
|
NM_007294.4(BRCA1):c.441+18CTT[6]
|
rs147856441
|
|
|
NM_007294.4(BRCA1):c.441+36_441+49del
|
rs373413425
|
|
|
NM_007294.4(BRCA1):c.4416_4417del (p.Ser1473fs)
|
rs886040231
|
|
|
NM_007294.4(BRCA1):c.442-2A>G
|
rs80358155
|
|
|
NM_007294.4(BRCA1):c.4445A>G (p.Asp1482Gly)
|
rs757726297
|
|
|
NM_007294.4(BRCA1):c.4447del (p.Ser1483fs)
|
rs397509177
|
|
|
NM_007294.4(BRCA1):c.4450T>A (p.Ser1484Thr)
|
rs80357404
|
|
|
NM_007294.4(BRCA1):c.4452_4455del (p.Thr1485fs)
|
rs397509178
|
|
|
NM_007294.4(BRCA1):c.4456A>T (p.Ser1486Cys)
|
rs397507232
|
|
|
NM_007294.4(BRCA1):c.4467del (p.Glu1490fs)
|
rs2154059325
|
|
|
NM_007294.4(BRCA1):c.4471C>G (p.Pro1491Ala)
|
rs111034213
|
|
|
NM_007294.4(BRCA1):c.4484+1G>A
|
rs80358063
|
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
|
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)
|
rs80357389
|
|
|
NM_007294.4(BRCA1):c.4485-10_4491del
|
rs2154024242
|
|
|
NM_007294.4(BRCA1):c.4485-2A>T
|
rs80358054
|
|
|
NM_007294.4(BRCA1):c.4487C>A (p.Ser1496Ter)
|
rs80356953
|
|
|
NM_007294.4(BRCA1):c.4493del (p.Pro1498fs)
|
rs398122687
|
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
|
NM_007294.4(BRCA1):c.4534_4535del (p.Ser1512fs)
|
rs397509183
|
|
|
NM_007294.4(BRCA1):c.457A>G (p.Ser153Gly)
|
rs28897674
|
|
|
NM_007294.4(BRCA1):c.457_458del (p.Ser153fs)
|
rs397509185
|
|
|
NM_007294.4(BRCA1):c.4595T>C (p.Val1532Ala)
|
rs2052601019
|
|
|
NM_007294.4(BRCA1):c.4624_4628del (p.Ser1542fs)
|
rs2153997899
|
|
|
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs)
|
rs80357542
|
|
|
NM_007294.4(BRCA1):c.463C>T (p.Gln155Ter)
|
rs80357180
|
|
|
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His)
|
rs1265352633
|
|
|
NM_007294.4(BRCA1):c.4664G>A (p.Arg1555Lys)
|
rs786202165
|
|
|
NM_007294.4(BRCA1):c.4665G>A (p.Arg1555=)
|
rs878854952
|
|
|
NM_007294.4(BRCA1):c.4675+1G>A
|
rs80358044
|
|
|
NM_007294.4(BRCA1):c.4675+1G>T
|
rs80358044
|
|
|
NM_007294.4(BRCA1):c.4675+3A>G
|
rs80358082
|
|
|
NM_007294.4(BRCA1):c.4697C>A (p.Ser1566Tyr)
|
rs1060502325
|
|
|
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer)
|
rs80357887
|
|
|
NM_007294.4(BRCA1):c.470_477del (p.Ser157fs)
|
rs397509190
|
|
|
NM_007294.4(BRCA1):c.472A>T (p.Asn158Tyr)
|
rs397509192
|
|
|
NM_007294.4(BRCA1):c.473_547+288del
|
rs2154527022
|
|
|
NM_007294.4(BRCA1):c.4743A>C (p.Glu1581Asp)
|
rs397509194
|
|
|
NM_007294.4(BRCA1):c.4764del (p.Arg1589fs)
|
rs397509196
|
|
|
NM_007294.4(BRCA1):c.4773C>T (p.Gly1591=)
|
rs2153860804
|
|
|
NM_007294.4(BRCA1):c.4777A>T (p.Ile1593Leu)
|
rs397509197
|
|
|
NM_007294.4(BRCA1):c.477T>C (p.Leu159=)
|
rs779704727
|
|
|
NM_007294.4(BRCA1):c.4818del (p.Val1607fs)
|
rs1555580883
|
|
|
NM_007294.4(BRCA1):c.4836dup (p.Ser1613fs)
|
rs397509198
|
|
|
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)
|
rs1799966
|
|
|
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys)
|
rs1799966
|
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
|
NM_007294.4(BRCA1):c.488del (p.Arg163fs)
|
rs397509202
|
|
|
NM_007294.4(BRCA1):c.4903del (p.Glu1635fs)
|
rs1555580697
|
|
|
NM_007294.4(BRCA1):c.4910del (p.Pro1637fs)
|
rs397509204
|
|
|
NM_007294.4(BRCA1):c.4921G>T (p.Ala1641Ser)
|
rs1800726
|
|
|
NM_007294.4(BRCA1):c.4932_4933dup (p.Arg1645fs)
|
rs80357833
|
|
|
NM_007294.4(BRCA1):c.4935G>C (p.Arg1645Ser)
|
rs80357373
|
|
|
NM_007294.4(BRCA1):c.4936del (p.Val1646fs)
|
rs80357653
|
|
|
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro)
|
rs1057518639
|
|
|
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)
|
rs80359876
|
|
|
NM_007294.4(BRCA1):c.4976del (p.Pro1659fs)
|
rs879255295
|
|
|
NM_007294.4(BRCA1):c.4986+3G>C
|
rs80358023
|
|
|
NM_007294.4(BRCA1):c.4986+5G>A
|
rs397509211
|
|
|
NM_007294.4(BRCA1):c.4986+5G>T
|
rs397509211
|
|
|
NM_007294.4(BRCA1):c.4986+6T>G
|
rs80358086
|
|
|
NM_007294.4(BRCA1):c.4987-1331_5152+2del
|
|
|
|
NM_007294.4(BRCA1):c.4987-5T>C
|
rs397509214
|
|
|
NM_007294.4(BRCA1):c.4994T>A (p.Val1665Glu)
|
rs1476854015
|
|
|
NM_007294.4(BRCA1):c.4996T>C (p.Tyr1666His)
|
rs397509215
|
|
|
NM_007294.4(BRCA1):c.502A>G (p.Lys168Glu)
|
rs886040263
|
|
|
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)
|
rs80357580
|
|
|
NM_007294.4(BRCA1):c.5049_5050dup (p.Thr1684fs)
|
rs2153700736
|
|
|
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr)
|
rs1555579648
|
|
|
NM_007294.4(BRCA1):c.5058T>A (p.His1686Gln)
|
rs397509218
|
|
|
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter)
|
rs80357133
|
|
|
NM_007294.4(BRCA1):c.5060T>G (p.Val1687Gly)
|
rs1555579627
|
|
|
NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala)
|
rs397509219
|
|
|
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys)
|
rs80357034
|
|
|
NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg)
|
rs80357034
|
|
|
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)
|
rs80357034
|
|
|
NM_007294.4(BRCA1):c.5074+1G>A
|
rs80358053
|
|
|
NM_007294.4(BRCA1):c.5074+2T>C
|
rs80358089
|
|
|
NM_007294.4(BRCA1):c.5075-1G>A
|
rs1800747
|
|
|
NM_007294.4(BRCA1):c.5075-1G>T
|
rs1800747
|
|
|
NM_007294.4(BRCA1):c.5075-390_5193+2del
|
|
|
|
NM_007294.4(BRCA1):c.5075-4G>A
|
rs397509220
|
|
|
NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala)
|
rs397509222
|
|
|
NM_007294.4(BRCA1):c.5075_5078del (p.Asp1692fs)
|
rs397509223
|
|
|
NM_007294.4(BRCA1):c.5077_5080delinsTTCATTCTGC (p.Ala1693_Glu1694delinsPheIleLeuGln)
|
rs397509224
|
|
|
NM_007294.4(BRCA1):c.5087T>A (p.Val1696Glu)
|
rs397509226
|
|
|
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)
|
rs80356993
|
|
|
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr)
|
rs397507241
|
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
|
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro)
|
rs41293459
|
|
|
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs)
|
rs80357608
|
|
|
NM_007294.4(BRCA1):c.5103G>A (p.Leu1701=)
|
rs1060504591
|
|
|
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)
|
rs28897696
|
|
|
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer)
|
rs80357997
|
|
|
NM_007294.4(BRCA1):c.5141_5144del (p.Val1714fs)
|
rs2153585533
|
|
|
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs)
|
rs80357720
|
|
|
NM_007294.4(BRCA1):c.5152+4A>G
|
rs397509232
|
|
|
NM_007294.4(BRCA1):c.5153-1G>T
|
rs80358137
|
|
|
NM_007294.4(BRCA1):c.5153-26A>G
|
rs80358109
|
|
|
NM_007294.4(BRCA1):c.5153-2A>C
|
rs786202545
|
|
|
NM_007294.4(BRCA1):c.5153-2del
|
rs273901746
|
|
|
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter)
|
rs80357239
|
|
|
NM_007294.4(BRCA1):c.515A>G (p.Gln172Arg)
|
rs1555594863
|
|
|
NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter)
|
rs878854957
|
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
|
NM_007294.4(BRCA1):c.5179_5192del (p.Lys1727fs)
|
rs397509234
|
|
|
NM_007294.4(BRCA1):c.5182del (p.Met1728fs)
|
rs34570933
|
|
|
NM_007294.4(BRCA1):c.5191G>A (p.Glu1731Lys)
|
rs397507244
|
|
|
NM_007294.4(BRCA1):c.5193+3_5193+4insT
|
rs2153552780
|
|
|
NM_007294.4(BRCA1):c.5194-119_5277+3del
|
rs2153352800
|
|
|
NM_007294.4(BRCA1):c.5194-12G>A
|
rs80358079
|
|
|
NM_007294.4(BRCA1):c.5194-1_5277+2del
|
rs2153353204
|
|
|
NM_007294.4(BRCA1):c.5194-2A>C
|
rs80358069
|
|
|
NM_007294.4(BRCA1):c.5194-2A>G
|
rs80358069
|
|
|
NM_007294.4(BRCA1):c.5194-4T>C
|
rs1057524456
|
|
|
NM_007294.4(BRCA1):c.5194-836_5277+3del
|
rs2153352893
|
|
|
NM_007294.4(BRCA1):c.5201T>C (p.Phe1734Ser)
|
rs397509237
|
|
|
NM_007294.4(BRCA1):c.5203G>A (p.Glu1735Lys)
|
rs397509238
|
|
|
NM_007294.4(BRCA1):c.5205del (p.Val1736fs)
|
rs587781258
|
|
|
NM_007294.4(BRCA1):c.5207del (p.Val1736fs)
|
rs397509239
|
|
|
NM_007294.4(BRCA1):c.5209dup (p.Arg1737fs)
|
rs886040278
|
|
|
NM_007294.4(BRCA1):c.520C>T (p.Gln174Ter)
|
rs1567806048
|
|
|
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)
|
rs80356937
|
|
|
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)
|
rs80357227
|
|
|
NM_007294.4(BRCA1):c.5231del (p.Arg1744fs)
|
rs397509241
|
|
|
NM_007294.4(BRCA1):c.523A>G (p.Lys175Glu)
|
rs1567806027
|
|
|
NM_007294.4(BRCA1):c.5241A>C (p.Gln1747His)
|
rs397509242
|
|
|
NM_007294.4(BRCA1):c.5241del (p.Gly1748fs)
|
rs80357791
|
|
|
NM_007294.4(BRCA1):c.5242G>A (p.Gly1748Ser)
|
rs397507245
|
|
|
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)
|
rs397509243
|
|
|
NM_007294.4(BRCA1):c.5245C>G (p.Pro1749Ala)
|
rs397509244
|
|
|
NM_007294.4(BRCA1):c.5251C>A (p.Arg1751=)
|
rs80357123
|
|
|
NM_007294.4(BRCA1):c.5251C>G (p.Arg1751Gly)
|
rs80357123
|
|
|
NM_007294.4(BRCA1):c.5258G>A (p.Arg1753Lys)
|
rs397509246
|
|
|
NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr)
|
rs397509246
|
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
|
NM_007294.4(BRCA1):c.5270_5276del (p.Asp1757fs)
|
rs397509248
|
|
|
NM_007294.4(BRCA1):c.5277+1G>A
|
rs80358150
|
|
|
NM_007294.4(BRCA1):c.5277+1G>C
|
rs80358150
|
|
|
NM_007294.4(BRCA1):c.5277+21T>G
|
rs397509249
|
|
|
NM_007294.4(BRCA1):c.5277+3A>C
|
rs397509250
|
|
|
NM_007294.4(BRCA1):c.5277+4A>T
|
rs397509251
|
|
|
NM_007294.4(BRCA1):c.5277+5A>T
|
rs397509252
|
|
|
NM_007294.4(BRCA1):c.5278-2A>T
|
rs397509253
|
|
|
NM_007294.4(BRCA1):c.5278-6_5278-4del
|
rs397509254
|
|
|
NM_007294.4(BRCA1):c.5280del (p.Phe1761fs)
|
rs2153085709
|
|
|
NM_007294.4(BRCA1):c.5293G>T (p.Glu1765Ter)
|
rs397509256
|
|
|
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys)
|
rs397509257
|
|
|
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val)
|
rs863224765
|
|
|
NM_007294.4(BRCA1):c.5323_5324del (p.Met1775fs)
|
rs397509262
|
|
|
NM_007294.4(BRCA1):c.5327C>A (p.Pro1776His)
|
rs398122695
|
|
|
NM_007294.4(BRCA1):c.5332+1del
|
rs397509263
|
|
|
NM_007294.4(BRCA1):c.5332G>C (p.Asp1778His)
|
rs80357112
|
|
|
NM_007294.4(BRCA1):c.5332G>T (p.Asp1778Tyr)
|
rs80357112
|
|
|
NM_007294.4(BRCA1):c.5333-6T>G
|
rs397509266
|
|
|
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs)
|
rs80357590
|
|
|
NM_007294.4(BRCA1):c.5341G>A (p.Glu1781Lys)
|
rs397509268
|
|
|
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter)
|
rs80357284
|
|
|
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter)
|
rs80356969
|
|
|
NM_007294.4(BRCA1):c.5355G>T (p.Gln1785His)
|
rs397509269
|
|
|
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)
|
rs398122697
|
|
|
NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr)
|
rs1597801649
|
|
|
NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys)
|
rs397509271
|
|
|
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs)
|
rs879254116
|
|
|
NM_007294.4(BRCA1):c.5369_5385del (p.Ser1790fs)
|
rs397509272
|
|
|
NM_007294.4(BRCA1):c.536A>T (p.Tyr179Phe)
|
rs56187033
|
|
|
NM_007294.4(BRCA1):c.536del (p.Tyr179fs)
|
rs397509273
|
|
|
NM_007294.4(BRCA1):c.5372T>A (p.Val1791Glu)
|
rs864622244
|
|
|
NM_007294.4(BRCA1):c.5377A>T (p.Lys1793Ter)
|
rs397509274
|
|
|
NM_007294.4(BRCA1):c.5380G>T (p.Glu1794Ter)
|
rs776323117
|
|
|
NM_007294.4(BRCA1):c.5382G>T (p.Glu1794Asp)
|
rs397509275
|
|
|
NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=)
|
rs879255493
|
|
|
NM_007294.4(BRCA1):c.5407-1G>A
|
rs80358029
|
|
|
NM_007294.4(BRCA1):c.5407-73_5467+4del
|
rs2152762741
|
|
|
NM_007294.4(BRCA1):c.5414A>C (p.His1805Pro)
|
rs397509281
|
|
|
NM_007294.4(BRCA1):c.5417del (p.Pro1806fs)
|
rs80357558
|
|
|
NM_007294.4(BRCA1):c.5422G>T (p.Val1808Leu)
|
rs1555574756
|
|
|
NM_007294.4(BRCA1):c.5429T>G (p.Val1810Gly)
|
rs80357451
|
|
|
NM_007294.4(BRCA1):c.5458G>A (p.Gly1820Ser)
|
rs398122698
|
|
|
NM_007294.4(BRCA1):c.5467+5G>C
|
rs397509287
|
|
|
NM_007294.4(BRCA1):c.5467+8G>T
|
rs80358062
|
|
|
NM_007294.4(BRCA1):c.547+14del
|
rs273902771
|
|
|
NM_007294.4(BRCA1):c.547+6G>A
|
rs1400635407
|
|
|
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val)
|
rs587782026
|
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
|
NM_007294.4(BRCA1):c.5497_5506del (p.Val1833fs)
|
rs273902775
|
|
|
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)
|
rs80356959
|
|
|
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn)
|
rs80357368
|
|
|
NM_007294.4(BRCA1):c.5532_5533insG (p.Tyr1845fs)
|
rs397509293
|
|
|
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=)
|
rs80356849
|
|
|
NM_007294.4(BRCA1):c.5559C>G (p.Tyr1853Ter)
|
rs80357336
|
|
|
NM_007294.4(BRCA1):c.5561T>C (p.Leu1854Pro)
|
rs80356996
|
|
|
NM_007294.4(BRCA1):c.556T>G (p.Ser186Ala)
|
rs397509298
|
|
|
NM_007294.4(BRCA1):c.557C>T (p.Ser186Phe)
|
rs55688530
|
|
|
NM_007294.4(BRCA1):c.594-16dup
|
rs1555593635
|
|
|
NM_007294.4(BRCA1):c.594-2A>G
|
rs80358033
|
|
|
NM_007294.4(BRCA1):c.624_625insAGGGATGAAATCAGGAGCCA (p.Pro209fs)
|
rs397509302
|
|
|
NM_007294.4(BRCA1):c.62dup (p.Glu23fs)
|
rs397509303
|
|
|
NM_007294.4(BRCA1):c.64_65del (p.Leu22fs)
|
rs397509304
|
|
|
NM_007294.4(BRCA1):c.668A>G (p.Lys223Arg)
|
rs397509306
|
|
|
NM_007294.4(BRCA1):c.66_67delinsTT (p.Leu22_Glu23delinsPheTer)
|
rs2154576881
|
|
|
NM_007294.4(BRCA1):c.66_67insC (p.Glu23fs)
|
rs1555600909
|
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
|
NM_007294.4(BRCA1):c.671-12del
|
rs273902781
|
|
|
NM_007294.4(BRCA1):c.671-1G>T
|
rs80358020
|
|
|
NM_007294.4(BRCA1):c.671-6T>G
|
rs878854964
|
|
|
NM_007294.4(BRCA1):c.672del (p.Ala225fs)
|
rs2154500888
|
|
|
NM_007294.4(BRCA1):c.676del (p.Cys226fs)
|
rs80357941
|
|
|
NM_007294.4(BRCA1):c.677_678insC (p.Cys226_Glu227insTer)
|
rs397509307
|
|
|
NM_007294.4(BRCA1):c.678T>A (p.Cys226Ter)
|
rs397509308
|
|
|
NM_007294.4(BRCA1):c.689_692del (p.Glu230fs)
|
rs886040308
|
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
|
NM_007294.4(BRCA1):c.695dup (p.Asp232fs)
|
rs1555593302
|
|
|
NM_007294.4(BRCA1):c.709G>T (p.Glu237Ter)
|
rs2154496548
|
|
|
NM_007294.4(BRCA1):c.724A>G (p.Ser242Gly)
|
rs1555593258
|
|
|
NM_007294.4(BRCA1):c.72_73del (p.Pro25fs)
|
rs397509311
|
|
|
NM_007294.4(BRCA1):c.737del (p.Asp245_Leu246insTer)
|
rs397509312
|
|
|
NM_007294.4(BRCA1):c.73C>A (p.Pro25Thr)
|
rs397509313
|
|
|
NM_007294.4(BRCA1):c.742A>C (p.Thr248Pro)
|
rs879255288
|
|
|
NM_007294.4(BRCA1):c.742dup (p.Thr248fs)
|
rs397509314
|
|
|
NM_007294.4(BRCA1):c.744del (p.Thr249fs)
|
rs1060502360
|
|
|
NM_007294.4(BRCA1):c.75_80dup (p.Cys27_Leu28insIleCys)
|
rs397509315
|
|
|
NM_007294.4(BRCA1):c.768_769insA (p.His257fs)
|
rs397509316
|
|
|
NM_007294.4(BRCA1):c.768_769insAG (p.His257fs)
|
rs1555593156
|
|
|
NM_007294.4(BRCA1):c.787G>T (p.Gly263Cys)
|
rs397509318
|
|
|
NM_007294.4(BRCA1):c.788G>C (p.Gly263Ala)
|
rs397509319
|
|
|
NM_007294.4(BRCA1):c.788G>T (p.Gly263Val)
|
rs397509319
|
|
|
NM_007294.4(BRCA1):c.788dup (p.Gly263_Ser264insTer)
|
rs886040319
|
|
|
NM_007294.4(BRCA1):c.790A>T (p.Ser264Cys)
|
rs397509321
|
|
|
NM_007294.4(BRCA1):c.791G>A (p.Ser264Asn)
|
rs397509322
|
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
|
NM_007294.4(BRCA1):c.80+6_80+9del
|
rs397509325
|
|
|
NM_007294.4(BRCA1):c.804C>G (p.Asn268Lys)
|
rs771076131
|
|
|
NM_007294.4(BRCA1):c.81-13C>G
|
rs56328013
|
|
|
NM_007294.4(BRCA1):c.81-14C>A
|
rs80358006
|
|
|
NM_007294.4(BRCA1):c.81-14C>T
|
rs80358006
|
|
|
NM_007294.4(BRCA1):c.81-6T>A
|
rs80358179
|
|
|
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu)
|
rs80357244
|
|
|
NM_007294.4(BRCA1):c.814_824dup (p.Thr276fs)
|
rs1555593031
|
|
|
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)
|
rs387906563
|
|
|
NM_007294.4(BRCA1):c.827C>T (p.Thr276Ile)
|
|
|
|
NM_007294.4(BRCA1):c.827_828insT (p.Asn277fs)
|
rs397509329
|
|
|
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
|
rs80357919
|
|
|
NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg)
|
rs80357039
|
|
|
NM_007294.4(BRCA1):c.851del (p.Gln284fs)
|
rs2154489483
|
|
|
NM_007294.4(BRCA1):c.888A>G (p.Arg296=)
|
rs1555592914
|
|
|
NM_007294.4(BRCA1):c.8T>G (p.Leu3Ter)
|
rs397509332
|
|
|
NM_007294.4(BRCA1):c.901A>C (p.Lys301Gln)
|
rs756859863
|
|
|
NM_007294.4(BRCA1):c.903_904insC (p.Ala302fs)
|
rs397509333
|
|
|
NM_007294.4(BRCA1):c.909del (p.Glu303fs)
|
rs397509334
|
|
|
NM_007294.4(BRCA1):c.922A>G (p.Ser308Gly)
|
rs55767801
|
|
|
NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter)
|
rs879255498
|
|
|
NM_007294.4(BRCA1):c.938T>G (p.Leu313Ter)
|
rs1407786310
|
|
|
NM_007294.4(BRCA1):c.961del (p.Trp321fs)
|
rs397509340
|
|
|
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)
|
rs80357292
|
|
|
NM_007294.4(BRCA1):c.968del (p.Gly323fs)
|
rs2154481843
|
|
|
NM_007294.4(BRCA1):c.97G>C (p.Glu33Gln)
|
rs80357066
|
|
|
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer)
|
rs80357772
|
|
|
NM_007294.4(BRCA1):c.985_986del (p.Cys328_Asn329insTer)
|
rs397509341
|
|
|
NM_013247.5(HTRA2):c.695T>A (p.Leu232Gln)
|
rs869025234
|
|
|
NM_014781.5(RB1CC1):c.1702C>T (p.Arg568Ter)
|
rs746206314
|
|
|
NM_015001.3(SPEN):c.6999_7014del (p.Gln2333fs)
|
rs869312174
|
|
|
NM_015428.4(ZNF473):c.2359A>T (p.Arg787Ter)
|
rs869025232
|
|
|
NM_015450.3(POT1):c.702+8_702+9delinsTG
|
rs36069303
|
|
|
NM_015692.5(CPAMD8):c.4015G>A (p.Ala1339Thr)
|
rs869025231
|
|
|
NM_020297.4(ABCC9):c.2663G>T (p.Gly888Val)
|
rs869025242
|
|
|
NM_020348.3(CNNM1):c.957G>C (p.Glu319Asp)
|
rs869025226
|
|
|
NM_020893.6(CCDC180):c.1843C>G (p.Pro615Ala)
|
rs869025225
|
|
|
NM_020975.6(RET):c.20G>A (p.Gly7Asp)
|
rs1366681125
|
|
|
NM_020975.6(RET):c.50T>C (p.Leu17Pro)
|
rs1837066964
|
|
|
NM_021224.6(ZNF462):c.4891C>T (p.Gln1631Ter)
|
|
|
|
NM_021224.6(ZNF462):c.6696-2A>C
|
|
|
|
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter)
|
rs1558280170
|
|
|
NM_024675.3(PALB2):c.-200-27T>G
|
rs515726055
|
|
|
NM_024675.3(PALB2):c.-200_*297dup4058
|
|
|
|
NM_024675.3(PALB2):c.-200_3113+?del
|
|
|
|
NM_024675.3(PALB2):c.1050_1051delinsTCT (p.Gln350fs)
|
rs180177098
|
|
|
NM_024675.3(PALB2):c.1685-?_2748+?dup
|
|
|
|
NM_024675.3(PALB2):c.1686delG
|
rs1597091518
|
|
|
NM_024675.3(PALB2):c.1724dup (p.Ser576Glufs)
|
rs1555460682
|
|
|
NM_024675.3(PALB2):c.2587-2A>G
|
rs1060502787
|
|
|
NM_024675.3(PALB2):c.2587-?_2748+?del
|
|
|
|
NM_024675.3(PALB2):c.2835-281_3113+1374del
|
|
|
|
NM_024675.3(PALB2):c.2835-324_3202-1757dup
|
|
|
|
NM_024675.3(PALB2):c.3114-?_*(1_?)del
|
|
|
|
NM_024675.3(PALB2):c.3114-?_3201+?del
|
|
|
|
NM_024675.3(PALB2):c.3114-?_3201+?dup88
|
|
|
|
NM_024675.3(PALB2):c.3114-?_3350+?del
|
|
|
|
NM_024675.3(PALB2):c.3202-?_3350+?del
|
|
|
|
NM_024675.3(PALB2):c.3350+1090_*1278dup
|
|
|
|
NM_024675.3(PALB2):c.3351-?_*(1_?)del
|
|
|
|
NM_024675.3(PALB2):c.3351-?_*297del
|
|
|
|
NM_024675.3:c.3495T>G
|
|
|
|
NM_024675.4(PALB2):c.-104C>T
|
rs1597102015
|
|
|
NM_024675.4(PALB2):c.-145G>C
|
rs373698818
|
|
|
NM_024675.4(PALB2):c.-23C>T
|
rs1597106322
|
|
|
NM_024675.4(PALB2):c.-46G>A
|
rs180177141
|
|
|
NM_024675.4(PALB2):c.-4_15del (p.Met1fs)
|
|
|
|
NM_024675.4(PALB2):c.-66C>T
|
rs1597106467
|
|
|
NM_024675.4(PALB2):c.-98C>A
|
rs515726058
|
|
|
NM_024675.4(PALB2):c.1002C>A (p.Tyr334Ter)
|
rs1967002667
|
|
|
NM_024675.4(PALB2):c.1002C>G (p.Tyr334Ter)
|
|
|
|
NM_024675.4(PALB2):c.1004A>T (p.Asn335Ile)
|
rs1368473544
|
|
|
NM_024675.4(PALB2):c.1006A>G (p.Asn336Asp)
|
rs1060502774
|
|
|
NM_024675.4(PALB2):c.1008C>T (p.Asn336=)
|
rs2142428659
|
|
|
NM_024675.4(PALB2):c.1010T>A (p.Leu337Ter)
|
rs45494092
|
|
|
NM_024675.4(PALB2):c.1010T>G (p.Leu337Ter)
|
rs45494092
|
|
|
NM_024675.4(PALB2):c.1010del (p.Leu337fs)
|
rs1967002076
|
|
|
NM_024675.4(PALB2):c.1011A>T (p.Leu337Phe)
|
|
|
|
NM_024675.4(PALB2):c.1011dup (p.Pro338fs)
|
|
|
|
NM_024675.4(PALB2):c.1012C>A (p.Pro338Thr)
|
rs560853558
|
|
|
NM_024675.4(PALB2):c.1012C>G (p.Pro338Ala)
|
rs560853558
|
|
|
NM_024675.4(PALB2):c.1012C>T (p.Pro338Ser)
|
rs560853558
|
|
|
NM_024675.4(PALB2):c.1013_1016delinsTGG (p.Pro338fs)
|
|
|
|
NM_024675.4(PALB2):c.1013del (p.Pro338fs)
|
|
|
|
NM_024675.4(PALB2):c.1014A>G (p.Pro338=)
|
rs540622230
|
|
|
NM_024675.4(PALB2):c.1015G>A (p.Ala339Thr)
|
|
|
|
NM_024675.4(PALB2):c.1016C>T (p.Ala339Val)
|
|
|
|
NM_024675.4(PALB2):c.1017A>C (p.Ala339=)
|
|
|
|
NM_024675.4(PALB2):c.1017A>G (p.Ala339=)
|
|
|
|
NM_024675.4(PALB2):c.101G>A (p.Arg34His)
|
rs144944814
|
|
|
NM_024675.4(PALB2):c.101G>T (p.Arg34Leu)
|
rs144944814
|
|
|
NM_024675.4(PALB2):c.1020T>C (p.Asn340=)
|
rs748432666
|
|
|
NM_024675.4(PALB2):c.1021G>T (p.Glu341Ter)
|
rs2142428256
|
|
|
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter)
|
rs180177097
|
|
|
NM_024675.4(PALB2):c.1028A>G (p.Gln343Arg)
|
|
|
|
NM_024675.4(PALB2):c.102C>T (p.Arg34=)
|
rs1555462102
|
|
|
NM_024675.4(PALB2):c.1030A>G (p.Asn344Asp)
|
rs786202850
|
|
|
NM_024675.4(PALB2):c.1031A>C (p.Asn344Thr)
|
rs1567221791
|
|
|
NM_024675.4(PALB2):c.1031del (p.Asn344fs)
|
rs1485260432
|
|
|
NM_024675.4(PALB2):c.1032_1033dup (p.Leu345fs)
|
rs1555461488
|
|
|
NM_024675.4(PALB2):c.1034T>C (p.Leu345Ser)
|
rs781757934
|
|
|
NM_024675.4(PALB2):c.1037_1038del (p.Lys346fs)
|
rs1597097438
|
|
|
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs)
|
rs587776410
|
|
|
NM_024675.4(PALB2):c.1038del (p.Glu347fs)
|
rs1597097438
|
|
|
NM_024675.4(PALB2):c.1039G>C (p.Glu347Gln)
|
rs1060499812
|
|
|
NM_024675.4(PALB2):c.1039G>T (p.Glu347Ter)
|
rs1060499812
|
|
|
NM_024675.4(PALB2):c.1039_1042delinsAAAAAA (p.Glu347fs)
|
rs1567221761
|
|
|
NM_024675.4(PALB2):c.1040A>G (p.Glu347Gly)
|
rs2142427838
|
|
|
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)
|
rs375699023
|
|
|
NM_024675.4(PALB2):c.1042del (p.Gln348fs)
|
rs1597097408
|
|
|
NM_024675.4(PALB2):c.1044A>G (p.Gln348=)
|
rs1597097374
|
|
|
NM_024675.4(PALB2):c.1046A>C (p.Asn349Thr)
|
rs1567221740
|
|
|
NM_024675.4(PALB2):c.1046_1047insG (p.Asn349fs)
|
|
|
|
NM_024675.4(PALB2):c.1046del (p.Asn349fs)
|
rs1555461484
|
|
|
NM_024675.4(PALB2):c.1047_1050del (p.Asn349fs)
|
rs1060499813
|
|
|
NM_024675.4(PALB2):c.1048C>A (p.Gln350Lys)
|
|
|
|
NM_024675.4(PALB2):c.1048C>G (p.Gln350Glu)
|
rs1060502788
|
|
|
NM_024675.4(PALB2):c.1048C>T (p.Gln350Ter)
|
rs1060502788
|
|
|
NM_024675.4(PALB2):c.1049A>T (p.Gln350Leu)
|
rs1567221732
|
|
|
NM_024675.4(PALB2):c.104T>C (p.Leu35Pro)
|
rs141047069
|
|
|
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)
|
rs515726060
|
|
|
NM_024675.4(PALB2):c.1052C>G (p.Thr351Arg)
|
rs876658656
|
|
|
NM_024675.4(PALB2):c.1052C>T (p.Thr351Ile)
|
rs876658656
|
|
|
NM_024675.4(PALB2):c.1053A>C (p.Thr351=)
|
rs1555461480
|
|
|
NM_024675.4(PALB2):c.1053A>G (p.Thr351=)
|
rs1555461480
|
|
|
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs)
|
rs180177099
|
|
|
NM_024675.4(PALB2):c.1056_1065del (p.Lys353fs)
|
rs2142426926
|
|
|
NM_024675.4(PALB2):c.1057A>G (p.Lys353Glu)
|
rs878855096
|
|
|
NM_024675.4(PALB2):c.1059_1077delinsGG (p.Ser354fs)
|
rs1555461460
|
|
|
NM_024675.4(PALB2):c.1059del (p.Lys353fs)
|
rs730881872
|
|
|
NM_024675.4(PALB2):c.105T>C (p.Leu35=)
|
|
|
|
NM_024675.4(PALB2):c.1060T>A (p.Ser354Thr)
|
rs1567221680
|
|
|
NM_024675.4(PALB2):c.1060T>G (p.Ser354Ala)
|
rs1567221680
|
|
|
NM_024675.4(PALB2):c.1061C>A (p.Ser354Tyr)
|
rs1555461474
|
|
|
NM_024675.4(PALB2):c.1061C>G (p.Ser354Cys)
|
rs1555461474
|
|
|
NM_024675.4(PALB2):c.1061del (p.Ser354fs)
|
|
|
|
NM_024675.4(PALB2):c.1063T>G (p.Leu355Val)
|
rs1555461473
|
|
|
NM_024675.4(PALB2):c.1064T>C (p.Leu355Ser)
|
rs1597097263
|
|
|
NM_024675.4(PALB2):c.1064_1067del (p.Leu355fs)
|
|
|
|
NM_024675.4(PALB2):c.1064del (p.Ser354_Leu355insTer)
|
rs1555461472
|
|
|
NM_024675.4(PALB2):c.1065_1069del (p.Leu355fs)
|
rs2142426807
|
|
|
NM_024675.4(PALB2):c.1067A>C (p.Lys356Thr)
|
|
|
|
NM_024675.4(PALB2):c.1067_1068insTA (p.Lys356fs)
|
rs1064795168
|
|
|
NM_024675.4(PALB2):c.1068A>G (p.Lys356=)
|
|
|
|
NM_024675.4(PALB2):c.1068dup (p.Ser357fs)
|
|
|
|
NM_024675.4(PALB2):c.106C>A (p.Gln36Lys)
|
rs757369748
|
|
|
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)
|
rs757369748
|
|
|
NM_024675.4(PALB2):c.1070C>G (p.Ser357Cys)
|
rs1555461469
|
|
|
NM_024675.4(PALB2):c.1070C>T (p.Ser357Phe)
|
rs1555461469
|
|
|
NM_024675.4(PALB2):c.1071_1072del (p.Pro358fs)
|
rs1555461467
|
|
|
NM_024675.4(PALB2):c.1072C>G (p.Pro358Ala)
|
rs876660876
|
|
|
NM_024675.4(PALB2):c.1072C>T (p.Pro358Ser)
|
rs876660876
|
|
|
NM_024675.4(PALB2):c.1073C>A (p.Pro358His)
|
rs1555461462
|
|
|
NM_024675.4(PALB2):c.1076G>C (p.Ser359Thr)
|
|
|
|
NM_024675.4(PALB2):c.1078_1084del (p.Asp360fs)
|
rs2142426385
|
|
|
NM_024675.4(PALB2):c.1079A>C (p.Asp360Ala)
|
|
|
|
NM_024675.4(PALB2):c.108+15T>A
|
|
|
|
NM_024675.4(PALB2):c.108+17C>T
|
|
|
|
NM_024675.4(PALB2):c.108+1_108+2insC
|
rs1597101776
|
|
|
NM_024675.4(PALB2):c.108+2T>C
|
rs2142459705
|
|
|
NM_024675.4(PALB2):c.108+2T>G
|
|
|
|
NM_024675.4(PALB2):c.108+4A>G
|
rs1555462100
|
|
|
NM_024675.4(PALB2):c.108+59C>G
|
rs515726061
|
|
|
NM_024675.4(PALB2):c.108+5G>A
|
rs1567224137
|
|
|
NM_024675.4(PALB2):c.108+7_108+8delinsAT
|
rs2142459585
|
|
|
NM_024675.4(PALB2):c.108+9A>G
|
rs1064795783
|
|
|
NM_024675.4(PALB2):c.1080C>T (p.Asp360=)
|
rs1415958873
|
|
|
NM_024675.4(PALB2):c.1081A>G (p.Thr361Ala)
|
rs111981798
|
|
|
NM_024675.4(PALB2):c.1081A>T (p.Thr361Ser)
|
rs111981798
|
|
|
NM_024675.4(PALB2):c.1082C>A (p.Thr361Asn)
|
rs1345668733
|
|
|
NM_024675.4(PALB2):c.1082C>G (p.Thr361Ser)
|
rs1345668733
|
|
|
NM_024675.4(PALB2):c.1082C>T (p.Thr361Ile)
|
rs1345668733
|
|
|
NM_024675.4(PALB2):c.1082_1120del (p.Thr361_Glu373del)
|
rs1555461441
|
|
|
NM_024675.4(PALB2):c.1082del (p.Thr361fs)
|
|
|
|
NM_024675.4(PALB2):c.1083T>C (p.Thr361=)
|
rs1555461457
|
|
|
NM_024675.4(PALB2):c.1084C>G (p.Leu362Val)
|
rs1060502758
|
|
|
NM_024675.4(PALB2):c.1084_1085del (p.Thr361_Leu362insTer)
|
rs1597097182
|
|
|
NM_024675.4(PALB2):c.1085T>C (p.Leu362Pro)
|
rs875989793
|
|
|
NM_024675.4(PALB2):c.1085T>G (p.Leu362Arg)
|
rs875989793
|
|
|
NM_024675.4(PALB2):c.1085_1086del (p.Leu362fs)
|
rs786203399
|
|
|
NM_024675.4(PALB2):c.1086T>C (p.Leu362=)
|
rs1555461454
|
|
|
NM_024675.4(PALB2):c.1089T>C (p.Asp363=)
|
rs1597097155
|
|
|
NM_024675.4(PALB2):c.108G>A (p.Gln36=)
|
rs1567224146
|
|
|
NM_024675.4(PALB2):c.108G>C (p.Gln36His)
|
|
|
|
NM_024675.4(PALB2):c.109-10TC[3]
|
rs1293962285
|
|
|
NM_024675.4(PALB2):c.109-11G>T
|
|
|
|
NM_024675.4(PALB2):c.109-12T>A
|
rs774949203
|
|
|
NM_024675.4(PALB2):c.109-12del
|
|
|
|
NM_024675.4(PALB2):c.109-16T>A
|
|
|
|
NM_024675.4(PALB2):c.109-18T>C
|
rs1555462094
|
|
|
NM_024675.4(PALB2):c.109-18T>G
|
|
|
|
NM_024675.4(PALB2):c.109-1G>A
|
|
|
|
NM_024675.4(PALB2):c.109-2A>G
|
rs730881897
|
|
|
NM_024675.4(PALB2):c.109-2A>T
|
|
|
|
NM_024675.4(PALB2):c.109-39A>C
|
|
|
|
NM_024675.4(PALB2):c.109-4C>T
|
rs778124229
|
|
|
NM_024675.4(PALB2):c.109-4_109-3del
|
|
|
|
NM_024675.4(PALB2):c.109-6_109-4del
|
rs1285099815
|
|
|
NM_024675.4(PALB2):c.109-7C>A
|
rs368705933
|
|
|
NM_024675.4(PALB2):c.109-8T>C
|
rs1597101610
|
|
|
NM_024675.4(PALB2):c.1091G>A (p.Gly364Asp)
|
rs758500775
|
|
|
NM_024675.4(PALB2):c.1092C>G (p.Gly364=)
|
|
|
|
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.1095G>C (p.Arg365Ser)
|
rs515726062
|
|
|
NM_024675.4(PALB2):c.1096A>G (p.Asn366Asp)
|
rs786204080
|
|
|
NM_024675.4(PALB2):c.1097A>G (p.Asn366Ser)
|
rs554849907
|
|
|
NM_024675.4(PALB2):c.1097dup (p.Asn366fs)
|
|
|
|
NM_024675.4(PALB2):c.1099G>A (p.Glu367Lys)
|
rs1966993880
|
|
|
NM_024675.4(PALB2):c.109C>T (p.Arg37Cys)
|
rs200048921
|
|
|
NM_024675.4(PALB2):c.10C>A (p.Pro4Thr)
|
rs587782483
|
|
|
NM_024675.4(PALB2):c.10C>G (p.Pro4Ala)
|
|
|
|
NM_024675.4(PALB2):c.1100A>G (p.Glu367Gly)
|
|
|
|
NM_024675.4(PALB2):c.1100_1163del (p.Glu367fs)
|
|
|
|
NM_024675.4(PALB2):c.1101A>G (p.Glu367=)
|
|
|
|
NM_024675.4(PALB2):c.1103A>G (p.Asn368Ser)
|
rs1060502799
|
|
|
NM_024675.4(PALB2):c.1103_1110del (p.Asn368fs)
|
|
|
|
NM_024675.4(PALB2):c.1103del (p.Asn368fs)
|
rs1555461451
|
|
|
NM_024675.4(PALB2):c.1106T>C (p.Leu369Pro)
|
rs1966993516
|
|
|
NM_024675.4(PALB2):c.1106_1116del (p.Leu369fs)
|
rs2142425504
|
|
|
NM_024675.4(PALB2):c.1107del (p.Gln370fs)
|
|
|
|
NM_024675.4(PALB2):c.1108C>A (p.Gln370Lys)
|
rs587776411
|
|
|
NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter)
|
rs587776411
|
|
|
NM_024675.4(PALB2):c.1109A>G (p.Gln370Arg)
|
rs1555461447
|
|
|
NM_024675.4(PALB2):c.110G>T (p.Arg37Leu)
|
rs202194596
|
|
|
NM_024675.4(PALB2):c.1111G>T (p.Glu371Ter)
|
|
|
|
NM_024675.4(PALB2):c.1114A>G (p.Ser372Gly)
|
rs587782657
|
|
|
NM_024675.4(PALB2):c.1114del (p.Ser372fs)
|
|
|
|
NM_024675.4(PALB2):c.1114dup (p.Ser372fs)
|
rs1060499815
|
|
|
NM_024675.4(PALB2):c.1115G>A (p.Ser372Asn)
|
rs786204243
|
|
|
NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr)
|
rs786204243
|
|
|
NM_024675.4(PALB2):c.1117G>T (p.Glu373Ter)
|
rs1597097072
|
|
|
NM_024675.4(PALB2):c.1117del (p.Glu373fs)
|
|
|
|
NM_024675.4(PALB2):c.111T>A (p.Arg37=)
|
rs1555462089
|
|
|
NM_024675.4(PALB2):c.111T>C (p.Arg37=)
|
rs1555462089
|
|
|
NM_024675.4(PALB2):c.1121T>C (p.Ile374Thr)
|
rs1567221558
|
|
|
NM_024675.4(PALB2):c.1122del (p.Ile374_Leu375insTer)
|
|
|
|
NM_024675.4(PALB2):c.1123C>G (p.Leu375Val)
|
rs373298267
|
|
|
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.1126A>T (p.Ser376Cys)
|
rs1966991786
|
|
|
NM_024675.4(PALB2):c.1126del (p.Ser376fs)
|
rs2142425187
|
|
|
NM_024675.4(PALB2):c.1127G>C (p.Ser376Thr)
|
rs587782200
|
|
|
NM_024675.4(PALB2):c.1128T>A (p.Ser376Arg)
|
rs587780204
|
|
|
NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter)
|
rs929474806
|
|
|
NM_024675.4(PALB2):c.112G>C (p.Ala38Pro)
|
|
|
|
NM_024675.4(PALB2):c.1131A>G (p.Gln377=)
|
|
|
|
NM_024675.4(PALB2):c.1132_1136dup (p.Lys379fs)
|
|
|
|
NM_024675.4(PALB2):c.1133C>G (p.Pro378Arg)
|
rs1442895662
|
|
|
NM_024675.4(PALB2):c.1133C>T (p.Pro378Leu)
|
rs1442895662
|
|
|
NM_024675.4(PALB2):c.1133del (p.Pro378fs)
|
|
|
|
NM_024675.4(PALB2):c.1134T>G (p.Pro378=)
|
rs2142424923
|
|
|
NM_024675.4(PALB2):c.1135A>G (p.Lys379Glu)
|
|
|
|
NM_024675.4(PALB2):c.1137G>A (p.Lys379=)
|
rs1060504712
|
|
|
NM_024675.4(PALB2):c.1138_1139del (p.Ser380_Leu381insTer)
|
rs1567221521
|
|
|
NM_024675.4(PALB2):c.1138_1148del (p.Ser380fs)
|
|
|
|
NM_024675.4(PALB2):c.1139G>A (p.Ser380Asn)
|
rs876659887
|
|
|
NM_024675.4(PALB2):c.113C>G (p.Ala38Gly)
|
rs371875379
|
|
|
NM_024675.4(PALB2):c.1141C>T (p.Leu381Phe)
|
rs1555461435
|
|
|
NM_024675.4(PALB2):c.1142_1143del (p.Leu381fs)
|
rs2142424706
|
|
|
NM_024675.4(PALB2):c.1144A>C (p.Ser382Arg)
|
rs1060502737
|
|
|
NM_024675.4(PALB2):c.1145G>C (p.Ser382Thr)
|
|
|
|
NM_024675.4(PALB2):c.1145_1146insGTTG (p.Ser382fs)
|
|
|
|
NM_024675.4(PALB2):c.1147C>A (p.Leu383Met)
|
rs2142424566
|
|
|
NM_024675.4(PALB2):c.1149G>A (p.Leu383=)
|
rs2142424481
|
|
|
NM_024675.4(PALB2):c.1149G>T (p.Leu383=)
|
|
|
|
NM_024675.4(PALB2):c.1150G>A (p.Glu384Lys)
|
rs1567221497
|
|
|
NM_024675.4(PALB2):c.1150G>C (p.Glu384Gln)
|
rs1567221497
|
|
|
NM_024675.4(PALB2):c.1152A>C (p.Glu384Asp)
|
|
|
|
NM_024675.4(PALB2):c.1152_1153insCA (p.Ala385fs)
|
|
|
|
NM_024675.4(PALB2):c.1152del (p.Ala385fs)
|
rs1567221493
|
|
|
NM_024675.4(PALB2):c.1153G>A (p.Ala385Thr)
|
rs1966990156
|
|
|
NM_024675.4(PALB2):c.1155A>G (p.Ala385=)
|
rs1555461431
|
|
|
NM_024675.4(PALB2):c.1156A>T (p.Thr386Ser)
|
rs148102335
|
|
|
NM_024675.4(PALB2):c.1156del (p.Thr386fs)
|
rs1597096949
|
|
|
NM_024675.4(PALB2):c.1156dup (p.Thr386fs)
|
rs1597096949
|
|
|
NM_024675.4(PALB2):c.1157C>G (p.Thr386Ser)
|
rs876660840
|
|
|
NM_024675.4(PALB2):c.1157C>T (p.Thr386Ile)
|
|
|
|
NM_024675.4(PALB2):c.1158C>G (p.Thr386=)
|
|
|
|
NM_024675.4(PALB2):c.115C>G (p.Gln39Glu)
|
|
|
|
NM_024675.4(PALB2):c.115C>T (p.Gln39Ter)
|
rs876659319
|
|
|
NM_024675.4(PALB2):c.1160C>G (p.Ser387Cys)
|
rs587781863
|
|
|
NM_024675.4(PALB2):c.1160C>T (p.Ser387Phe)
|
rs587781863
|
|
|
NM_024675.4(PALB2):c.1160CTC[1] (p.Pro388del)
|
rs1306677139
|
|
|
NM_024675.4(PALB2):c.1160CTC[3] (p.Pro388dup)
|
rs1306677139
|
|
|
NM_024675.4(PALB2):c.1161T>G (p.Ser387=)
|
rs1597096920
|
|
|
NM_024675.4(PALB2):c.1161del (p.Pro388fs)
|
rs1966989564
|
|
|
NM_024675.4(PALB2):c.1162C>T (p.Pro388Ser)
|
rs1567221468
|
|
|
NM_024675.4(PALB2):c.1163C>T (p.Pro388Leu)
|
rs1597096898
|
|
|
NM_024675.4(PALB2):c.1163dup (p.Leu389fs)
|
rs869312772
|
|
|
NM_024675.4(PALB2):c.1165C>G (p.Leu389Val)
|
rs1555461427
|
|
|
NM_024675.4(PALB2):c.1165C>T (p.Leu389Phe)
|
rs1555461427
|
|
|
NM_024675.4(PALB2):c.1166T>C (p.Leu389Pro)
|
rs1567221452
|
|
|
NM_024675.4(PALB2):c.1167T>C (p.Leu389=)
|
rs2142423985
|
|
|
NM_024675.4(PALB2):c.1168dup (p.Ser390fs)
|
rs1966988658
|
|
|
NM_024675.4(PALB2):c.1169C>A (p.Ser390Tyr)
|
rs1555461425
|
|
|
NM_024675.4(PALB2):c.1169C>G (p.Ser390Cys)
|
|
|
|
NM_024675.4(PALB2):c.116A>G (p.Gln39Arg)
|
|
|
|
NM_024675.4(PALB2):c.116A>T (p.Gln39Leu)
|
rs1555462083
|
|
|
NM_024675.4(PALB2):c.1170T>A (p.Ser390=)
|
rs1597096863
|
|
|
NM_024675.4(PALB2):c.1170del (p.Ala391fs)
|
rs2142423901
|
|
|
NM_024675.4(PALB2):c.1171G>T (p.Ala391Ser)
|
rs2142423854
|
|
|
NM_024675.4(PALB2):c.1175A>G (p.Glu392Gly)
|
rs1555461424
|
|
|
NM_024675.4(PALB2):c.1176A>G (p.Glu392=)
|
rs1555461423
|
|
|
NM_024675.4(PALB2):c.1177A>C (p.Lys393Gln)
|
rs866787789
|
|
|
NM_024675.4(PALB2):c.1177A>G (p.Lys393Glu)
|
rs866787789
|
|
|
NM_024675.4(PALB2):c.1179A>C (p.Lys393Asn)
|
|
|
|
NM_024675.4(PALB2):c.1179del (p.Lys393fs)
|
rs1567221417
|
|
|
NM_024675.4(PALB2):c.1179dup (p.His394fs)
|
rs1567221417
|
|
|
NM_024675.4(PALB2):c.117A>G (p.Gln39=)
|
rs1967104762
|
|
|
NM_024675.4(PALB2):c.117_120dup (p.Ala41fs)
|
rs1555462076
|
|
|
NM_024675.4(PALB2):c.1180C>T (p.His394Tyr)
|
rs1567221411
|
|
|
NM_024675.4(PALB2):c.1181A>C (p.His394Pro)
|
|
|
|
NM_024675.4(PALB2):c.1182T>C (p.His394=)
|
rs772960995
|
|
|
NM_024675.4(PALB2):c.1183T>C (p.Ser395Pro)
|
rs1966987344
|
|
|
NM_024675.4(PALB2):c.1183del (p.Ser395fs)
|
rs1555461415
|
|
|
NM_024675.4(PALB2):c.1186T>C (p.Cys396Arg)
|
rs2142423404
|
|
|
NM_024675.4(PALB2):c.1186dup (p.Cys396fs)
|
rs1555461413
|
|
|
NM_024675.4(PALB2):c.1187G>A (p.Cys396Tyr)
|
rs2142423374
|
|
|
NM_024675.4(PALB2):c.1187dup (p.Cys396fs)
|
|
|
|
NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter)
|
rs587780817
|
|
|
NM_024675.4(PALB2):c.1188C>G (p.Cys396Trp)
|
rs587780817
|
|
|
NM_024675.4(PALB2):c.1189A>C (p.Thr397Pro)
|
rs367578415
|
|
|
NM_024675.4(PALB2):c.1189A>G (p.Thr397Ala)
|
rs367578415
|
|
|
NM_024675.4(PALB2):c.1189del (p.Thr397fs)
|
|
|
|
NM_024675.4(PALB2):c.118del (p.Arg40fs)
|
rs1597101532
|
|
|
NM_024675.4(PALB2):c.1190C>T (p.Thr397Ile)
|
rs587781319
|
|
|
NM_024675.4(PALB2):c.1191A>C (p.Thr397=)
|
|
|
|
NM_024675.4(PALB2):c.1191A>G (p.Thr397=)
|
rs1597096781
|
|
|
NM_024675.4(PALB2):c.1192G>C (p.Val398Leu)
|
|
|
|
NM_024675.4(PALB2):c.1192del (p.Val398fs)
|
rs1555461407
|
|
|
NM_024675.4(PALB2):c.1193T>G (p.Val398Gly)
|
rs1461956026
|
|
|
NM_024675.4(PALB2):c.1194G>T (p.Val398=)
|
rs61755173
|
|
|
NM_024675.4(PALB2):c.1196C>T (p.Pro399Leu)
|
rs776115183
|
|
|
NM_024675.4(PALB2):c.1199A>G (p.Glu400Gly)
|
rs2142422950
|
|
|
NM_024675.4(PALB2):c.119_120delinsTT (p.Arg40Ile)
|
rs1064794085
|
|
|
NM_024675.4(PALB2):c.1200A>C (p.Glu400Asp)
|
|
|
|
NM_024675.4(PALB2):c.1200A>T (p.Glu400Asp)
|
rs1966985747
|
|
|
NM_024675.4(PALB2):c.1202G>A (p.Gly401Asp)
|
|
|
|
NM_024675.4(PALB2):c.1202_1203insT (p.Leu402fs)
|
|
|
|
NM_024675.4(PALB2):c.1203C>T (p.Gly401=)
|
rs1418142337
|
|
|
NM_024675.4(PALB2):c.1204C>A (p.Leu402Ile)
|
rs1555461402
|
|
|
NM_024675.4(PALB2):c.1204C>G (p.Leu402Val)
|
rs1555461402
|
|
|
NM_024675.4(PALB2):c.1204C>T (p.Leu402Phe)
|
rs1555461402
|
|
|
NM_024675.4(PALB2):c.1206_1208del (p.Leu403del)
|
rs2142422725
|
|
|
NM_024675.4(PALB2):c.1206del (p.Leu403fs)
|
rs876658431
|
|
|
NM_024675.4(PALB2):c.1207C>G (p.Leu403Val)
|
|
|
|
NM_024675.4(PALB2):c.1207_1208del (p.Leu403fs)
|
|
|
|
NM_024675.4(PALB2):c.1208T>G (p.Leu403Arg)
|
rs1567221341
|
|
|
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.1209_1224del (p.Phe404fs)
|
|
|
|
NM_024675.4(PALB2):c.120del (p.Ala41fs)
|
|
|
|
NM_024675.4(PALB2):c.1212T>A (p.Phe404Leu)
|
|
|
|
NM_024675.4(PALB2):c.1212del (p.Pro405fs)
|
|
|
|
NM_024675.4(PALB2):c.1212dup (p.Pro405fs)
|
rs1567221328
|
|
|
NM_024675.4(PALB2):c.1214C>T (p.Pro405Leu)
|
rs1555461396
|
|
|
NM_024675.4(PALB2):c.1215T>G (p.Pro405=)
|
rs1597096698
|
|
|
NM_024675.4(PALB2):c.1216del (p.Ala406fs)
|
rs876659741
|
|
|
NM_024675.4(PALB2):c.1217C>T (p.Ala406Val)
|
rs1060502757
|
|
|
NM_024675.4(PALB2):c.1217_1218insTT (p.Ala406_Glu407insTer)
|
|
|
|
NM_024675.4(PALB2):c.1218A>C (p.Ala406=)
|
rs1480282493
|
|
|
NM_024675.4(PALB2):c.121G>C (p.Ala41Pro)
|
rs2142457610
|
|
|
NM_024675.4(PALB2):c.1220A>G (p.Glu407Gly)
|
rs1597096676
|
|
|
NM_024675.4(PALB2):c.1221A>G (p.Glu407=)
|
rs1597096669
|
|
|
NM_024675.4(PALB2):c.1222T>C (p.Tyr408His)
|
rs515726064
|
|
|
NM_024675.4(PALB2):c.1222T>G (p.Tyr408Asp)
|
rs515726064
|
|
|
NM_024675.4(PALB2):c.1223A>G (p.Tyr408Cys)
|
rs779251679
|
|
|
NM_024675.4(PALB2):c.1223_1224dup (p.Tyr409fs)
|
rs2142422279
|
|
|
NM_024675.4(PALB2):c.1224T>C (p.Tyr408=)
|
rs2142422250
|
|
|
NM_024675.4(PALB2):c.1225T>C (p.Tyr409His)
|
rs1064793222
|
|
|
NM_024675.4(PALB2):c.1225T>G (p.Tyr409Asp)
|
|
|
|
NM_024675.4(PALB2):c.1226A>G (p.Tyr409Cys)
|
rs878855097
|
|
|
NM_024675.4(PALB2):c.1226A>T (p.Tyr409Phe)
|
rs878855097
|
|
|
NM_024675.4(PALB2):c.1226dup (p.Tyr409Ter)
|
rs1966983494
|
|
|
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.1227_1231del (p.Tyr409_Arg411delinsTer)
|
rs1555461385
|
|
|
NM_024675.4(PALB2):c.1227del (p.Tyr408_Tyr409insTer)
|
|
|
|
NM_024675.4(PALB2):c.122C>T (p.Ala41Val)
|
rs1597101507
|
|
|
NM_024675.4(PALB2):c.1232G>A (p.Arg411Lys)
|
rs926278722
|
|
|
NM_024675.4(PALB2):c.1234del (p.Thr412fs)
|
|
|
|
NM_024675.4(PALB2):c.1235C>T (p.Thr412Ile)
|
|
|
|
NM_024675.4(PALB2):c.1237A>C (p.Thr413Pro)
|
rs1335631200
|
|
|
NM_024675.4(PALB2):c.1238C>G (p.Thr413Arg)
|
rs876660213
|
|
|
NM_024675.4(PALB2):c.1239A>G (p.Thr413=)
|
rs2142421859
|
|
|
NM_024675.4(PALB2):c.123T>A (p.Ala41=)
|
rs1967104067
|
|
|
NM_024675.4(PALB2):c.123del (p.Glu42fs)
|
rs1967104136
|
|
|
NM_024675.4(PALB2):c.1241_1356del (p.Arg414fs)
|
|
|
|
NM_024675.4(PALB2):c.1242A>C (p.Arg414=)
|
rs875989795
|
|
|
NM_024675.4(PALB2):c.1242A>G (p.Arg414=)
|
rs875989795
|
|
|
NM_024675.4(PALB2):c.1242_1243dup (p.Ser415fs)
|
|
|
|
NM_024675.4(PALB2):c.1243A>C (p.Ser415Arg)
|
rs1555461376
|
|
|
NM_024675.4(PALB2):c.1244G>C (p.Ser415Thr)
|
rs2142421697
|
|
|
NM_024675.4(PALB2):c.1245C>A (p.Ser415Arg)
|
rs1966982144
|
|
|
NM_024675.4(PALB2):c.1248del (p.Met416fs)
|
rs1966981959
|
|
|
NM_024675.4(PALB2):c.1251C>T (p.Ser417=)
|
rs876658769
|
|
|
NM_024675.4(PALB2):c.1252A>G (p.Asn418Asp)
|
rs786202943
|
|
|
NM_024675.4(PALB2):c.1253A>G (p.Asn418Ser)
|
rs1784498384
|
|
|
NM_024675.4(PALB2):c.1254T>C (p.Asn418=)
|
rs2142421399
|
|
|
NM_024675.4(PALB2):c.1255T>C (p.Cys419Arg)
|
|
|
|
NM_024675.4(PALB2):c.1256G>T (p.Cys419Phe)
|
rs866387173
|
|
|
NM_024675.4(PALB2):c.1262G>C (p.Arg421Thr)
|
rs2142421169
|
|
|
NM_024675.4(PALB2):c.1263_1265dup (p.Lys422dup)
|
rs1567221237
|
|
|
NM_024675.4(PALB2):c.1263del (p.Lys422_Val423insTer)
|
rs2142421147
|
|
|
NM_024675.4(PALB2):c.1266A>G (p.Lys422=)
|
rs1371849254
|
|
|
NM_024675.4(PALB2):c.1266del (p.Lys422_Val423insTer)
|
rs1555461366
|
|
|
NM_024675.4(PALB2):c.1267G>A (p.Val423Ile)
|
rs1966980569
|
|
|
NM_024675.4(PALB2):c.1268T>C (p.Val423Ala)
|
|
|
|
NM_024675.4(PALB2):c.1268_1270del (p.Val423del)
|
|
|
|
NM_024675.4(PALB2):c.1270G>A (p.Ala424Thr)
|
|
|
|
NM_024675.4(PALB2):c.1271C>T (p.Ala424Val)
|
rs2142420870
|
|
|
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.1276G>A (p.Glu426Lys)
|
rs2142420693
|
|
|
NM_024675.4(PALB2):c.1278G>A (p.Glu426=)
|
rs1555461362
|
|
|
NM_024675.4(PALB2):c.1279G>C (p.Ala427Pro)
|
|
|
|
NM_024675.4(PALB2):c.1280C>T (p.Ala427Val)
|
rs2142420597
|
|
|
NM_024675.4(PALB2):c.1282G>T (p.Val428Phe)
|
rs1966979857
|
|
|
NM_024675.4(PALB2):c.1284C>T (p.Val428=)
|
rs2142420475
|
|
|
NM_024675.4(PALB2):c.1285A>G (p.Ile429Val)
|
rs1555461360
|
|
|
NM_024675.4(PALB2):c.1285delinsTC (p.Ile429fs)
|
rs1966979701
|
|
|
NM_024675.4(PALB2):c.1287T>G (p.Ile429Met)
|
rs1966979451
|
|
|
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter)
|
rs1555461358
|
|
|
NM_024675.4(PALB2):c.128dup (p.Ile44fs)
|
|
|
|
NM_024675.4(PALB2):c.1290G>A (p.Gln430=)
|
rs2142420314
|
|
|
NM_024675.4(PALB2):c.1291A>G (p.Ser431Gly)
|
|
|
|
NM_024675.4(PALB2):c.1291_1292del (p.His432fs)
|
rs786203057
|
|
|
NM_024675.4(PALB2):c.1292G>A (p.Ser431Asn)
|
rs1555461357
|
|
|
NM_024675.4(PALB2):c.1293T>G (p.Ser431Arg)
|
rs1555461355
|
|
|
NM_024675.4(PALB2):c.1294C>T (p.His432Tyr)
|
rs879254250
|
|
|
NM_024675.4(PALB2):c.1295A>G (p.His432Arg)
|
rs1597096474
|
|
|
NM_024675.4(PALB2):c.1296T>A (p.His432Gln)
|
rs1567221194
|
|
|
NM_024675.4(PALB2):c.1296_1306del (p.His432fs)
|
|
|
|
NM_024675.4(PALB2):c.1298T>G (p.Leu433Trp)
|
rs1597096465
|
|
|
NM_024675.4(PALB2):c.1299G>A (p.Leu433=)
|
rs1966978476
|
|
|
NM_024675.4(PALB2):c.129G>A (p.Lys43=)
|
rs551111938
|
|
|
NM_024675.4(PALB2):c.129G>T (p.Lys43Asn)
|
rs551111938
|
|
|
NM_024675.4(PALB2):c.12dup (p.Pro5fs)
|
rs879254062
|
|
|
NM_024675.4(PALB2):c.1300G>C (p.Asp434His)
|
rs2142420011
|
|
|
NM_024675.4(PALB2):c.1301A>C (p.Asp434Ala)
|
rs757972600
|
|
|
NM_024675.4(PALB2):c.1301A>G (p.Asp434Gly)
|
|
|
|
NM_024675.4(PALB2):c.1302T>C (p.Asp434=)
|
rs2142419939
|
|
|
NM_024675.4(PALB2):c.1302T>G (p.Asp434Glu)
|
|
|
|
NM_024675.4(PALB2):c.1303G>A (p.Val435Ile)
|
rs1064794517
|
|
|
NM_024675.4(PALB2):c.1305C>T (p.Val435=)
|
rs1597096444
|
|
|
NM_024675.4(PALB2):c.1307A>G (p.Lys436Arg)
|
rs1966977995
|
|
|
NM_024675.4(PALB2):c.1308G>C (p.Lys436Asn)
|
rs1258005167
|
|
|
NM_024675.4(PALB2):c.1309A>G (p.Lys437Glu)
|
rs1597096438
|
|
|
NM_024675.4(PALB2):c.130A>G (p.Ile44Val)
|
|
|
|
NM_024675.4(PALB2):c.1310A>G (p.Lys437Arg)
|
|
|
|
NM_024675.4(PALB2):c.1313A>G (p.Lys438Arg)
|
|
|
|
NM_024675.4(PALB2):c.1313A>T (p.Lys438Ile)
|
|
|
|
NM_024675.4(PALB2):c.1314A>C (p.Lys438Asn)
|
|
|
|
NM_024675.4(PALB2):c.1314del (p.Phe440fs)
|
rs515726065
|
|
|
NM_024675.4(PALB2):c.1314dup (p.Gly439fs)
|
rs515726065
|
|
|
NM_024675.4(PALB2):c.1315G>A (p.Gly439Arg)
|
rs764750338
|
|
|
NM_024675.4(PALB2):c.1315G>C (p.Gly439Arg)
|
rs764750338
|
|
|
NM_024675.4(PALB2):c.1315G>T (p.Gly439Trp)
|
|
|
|
NM_024675.4(PALB2):c.1316G>A (p.Gly439Glu)
|
rs537258442
|
|
|
NM_024675.4(PALB2):c.1316G>C (p.Gly439Ala)
|
rs537258442
|
|
|
NM_024675.4(PALB2):c.1317G>A (p.Gly439=)
|
rs515726066
|
|
|
NM_024675.4(PALB2):c.1317G>T (p.Gly439=)
|
|
|
|
NM_024675.4(PALB2):c.1317del (p.Phe440fs)
|
rs515726067
|
|
|
NM_024675.4(PALB2):c.1317dup (p.Phe440fs)
|
rs515726067
|
|
|
NM_024675.4(PALB2):c.1318T>C (p.Phe440Leu)
|
rs776294034
|
|
|
NM_024675.4(PALB2):c.1319_1320insSVAelement
|
|
|
|
NM_024675.4(PALB2):c.1320dup (p.Lys441Ter)
|
rs2142419403
|
|
|
NM_024675.4(PALB2):c.1323A>T (p.Lys441Asn)
|
|
|
|
NM_024675.4(PALB2):c.1326T>C (p.Asn442=)
|
rs1555461340
|
|
|
NM_024675.4(PALB2):c.1327A>T (p.Lys443Ter)
|
rs1555461339
|
|
|
NM_024675.4(PALB2):c.1328A>G (p.Lys443Arg)
|
rs587781429
|
|
|
NM_024675.4(PALB2):c.132T>G (p.Ile44Met)
|
rs756856792
|
|
|
NM_024675.4(PALB2):c.1331A>G (p.Asn444Ser)
|
rs764599493
|
|
|
NM_024675.4(PALB2):c.1331del (p.Asn444fs)
|
|
|
|
NM_024675.4(PALB2):c.1332T>C (p.Asn444=)
|
rs2142419145
|
|
|
NM_024675.4(PALB2):c.1334A>C (p.Lys445Thr)
|
rs1555461337
|
|
|
NM_024675.4(PALB2):c.1337A>G (p.Asp446Gly)
|
rs146434474
|
|
|
NM_024675.4(PALB2):c.1340C>A (p.Ala447Glu)
|
rs1555461334
|
|
|
NM_024675.4(PALB2):c.1341A>T (p.Ala447=)
|
rs2142418889
|
|
|
NM_024675.4(PALB2):c.1342A>G (p.Ser448Gly)
|
rs1966975915
|
|
|
NM_024675.4(PALB2):c.1342_1343insTAAAAATTTAAACCTTTCCAATGAGGAAACTGACCAAAGTGAAATTAGGATGTCTGGCACATGCACAGGACAACCAAGTTCAANNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATAAGGATGCAA (p.Ser448delinsIleLysIleTer)
|
rs2142418871
|
|
|
NM_024675.4(PALB2):c.1342del (p.Ser448fs)
|
|
|
|
NM_024675.4(PALB2):c.1343del (p.Ser448fs)
|
|
|
|
NM_024675.4(PALB2):c.1344T>C (p.Ser448=)
|
|
|
|
NM_024675.4(PALB2):c.1344T>G (p.Ser448Arg)
|
rs1452869606
|
|
|
NM_024675.4(PALB2):c.1346A>C (p.Lys449Thr)
|
rs876659152
|
|
|
NM_024675.4(PALB2):c.1347A>G (p.Lys449=)
|
rs587780205
|
|
|
NM_024675.4(PALB2):c.1348_1349del (p.Asn450fs)
|
|
|
|
NM_024675.4(PALB2):c.1350_1355del (p.450NL[1])
|
rs755002948
|
|
|
NM_024675.4(PALB2):c.1351T>A (p.Leu451Ile)
|
rs772691867
|
|
|
NM_024675.4(PALB2):c.1352T>G (p.Leu451Ter)
|
rs1966974831
|
|
|
NM_024675.4(PALB2):c.1352dup (p.Leu451fs)
|
rs1597096326
|
|
|
NM_024675.4(PALB2):c.1353A>G (p.Leu451=)
|
rs1966974752
|
|
|
NM_024675.4(PALB2):c.1356C>A (p.Asn452Lys)
|
|
|
|
NM_024675.4(PALB2):c.1356C>T (p.Asn452=)
|
rs1555461327
|
|
|
NM_024675.4(PALB2):c.1356_2586+201del
|
|
|
|
NM_024675.4(PALB2):c.1357C>T (p.Leu453Phe)
|
rs746328068
|
|
|
NM_024675.4(PALB2):c.1358T>C (p.Leu453Pro)
|
|
|
|
NM_024675.4(PALB2):c.1359_1360insGT (p.Ser454fs)
|
rs2142418386
|
|
|
NM_024675.4(PALB2):c.135G>A (p.Lys45=)
|
rs753270291
|
|
|
NM_024675.4(PALB2):c.135G>C (p.Lys45Asn)
|
rs753270291
|
|
|
NM_024675.4(PALB2):c.1360T>C (p.Ser454Pro)
|
rs1597096304
|
|
|
NM_024675.4(PALB2):c.1360del (p.Ser454fs)
|
|
|
|
NM_024675.4(PALB2):c.1362del (p.Asn455fs)
|
rs1555461323
|
|
|
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.1368G>T (p.Glu456Asp)
|
rs1555461319
|
|
|
NM_024675.4(PALB2):c.1369G>T (p.Glu457Ter)
|
rs878855099
|
|
|
NM_024675.4(PALB2):c.1369del (p.Glu457fs)
|
rs2142418150
|
|
|
NM_024675.4(PALB2):c.136C>T (p.His46Tyr)
|
|
|
|
NM_024675.4(PALB2):c.136_148del (p.His46fs)
|
rs2142457035
|
|
|
NM_024675.4(PALB2):c.1370A>G (p.Glu457Gly)
|
rs774298150
|
|
|
NM_024675.4(PALB2):c.1372A>G (p.Thr458Ala)
|
|
|
|
NM_024675.4(PALB2):c.1374T>C (p.Thr458=)
|
rs878855098
|
|
|
NM_024675.4(PALB2):c.1375G>A (p.Asp459Asn)
|
rs2142417951
|
|
|
NM_024675.4(PALB2):c.1376A>G (p.Asp459Gly)
|
rs1031787378
|
|
|
NM_024675.4(PALB2):c.1376A>T (p.Asp459Val)
|
rs1031787378
|
|
|
NM_024675.4(PALB2):c.1377C>G (p.Asp459Glu)
|
rs771002573
|
|
|
NM_024675.4(PALB2):c.1377C>T (p.Asp459=)
|
rs771002573
|
|
|
NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter)
|
rs876658166
|
|
|
NM_024675.4(PALB2):c.1378_1379inv (p.Gln460Ter)
|
|
|
|
NM_024675.4(PALB2):c.1381A>C (p.Ser461Arg)
|
|
|
|
NM_024675.4(PALB2):c.1382G>A (p.Ser461Asn)
|
rs1966972801
|
|
|
NM_024675.4(PALB2):c.1382G>T (p.Ser461Ile)
|
rs1966972801
|
|
|
NM_024675.4(PALB2):c.1382del (p.Ser461fs)
|
|
|
|
NM_024675.4(PALB2):c.1383T>C (p.Ser461=)
|
|
|
|
NM_024675.4(PALB2):c.1383T>G (p.Ser461Arg)
|
rs768482110
|
|
|
NM_024675.4(PALB2):c.1385A>G (p.Glu462Gly)
|
rs1966972534
|
|
|
NM_024675.4(PALB2):c.1385A>T (p.Glu462Val)
|
|
|
|
NM_024675.4(PALB2):c.1386A>G (p.Glu462=)
|
rs2142417622
|
|
|
NM_024675.4(PALB2):c.1386_1390dup (p.Arg464fs)
|
rs2142417496
|
|
|
NM_024675.4(PALB2):c.1388T>G (p.Ile463Ser)
|
rs1597096230
|
|
|
NM_024675.4(PALB2):c.1389dup (p.Arg464Ter)
|
rs2142417535
|
|
|
NM_024675.4(PALB2):c.1390A>T (p.Arg464Trp)
|
rs1555461305
|
|
|
NM_024675.4(PALB2):c.1391G>A (p.Arg464Lys)
|
rs1966972231
|
|
|
NM_024675.4(PALB2):c.1392G>A (p.Arg464=)
|
rs876659000
|
|
|
NM_024675.4(PALB2):c.1392del (p.Met465fs)
|
|
|
|
NM_024675.4(PALB2):c.1393A>G (p.Met465Val)
|
rs1170015107
|
|
|
NM_024675.4(PALB2):c.1394_1395insAGAC (p.Met465fs)
|
|
|
|
NM_024675.4(PALB2):c.1396T>G (p.Ser466Ala)
|
|
|
|
NM_024675.4(PALB2):c.1397_1399delinsT (p.Ser466fs)
|
|
|
|
NM_024675.4(PALB2):c.1399G>A (p.Gly467Ser)
|
rs45602239
|
|
|
NM_024675.4(PALB2):c.1399G>C (p.Gly467Arg)
|
rs45602239
|
|
|
NM_024675.4(PALB2):c.13C>G (p.Pro5Ala)
|
|
|
|
NM_024675.4(PALB2):c.1400G>C (p.Gly467Ala)
|
rs730881906
|
|
|
NM_024675.4(PALB2):c.1400del (p.Gly467fs)
|
|
|
|
NM_024675.4(PALB2):c.1401C>T (p.Gly467=)
|
rs1555461301
|
|
|
NM_024675.4(PALB2):c.1402A>G (p.Thr468Ala)
|
rs1966971242
|
|
|
NM_024675.4(PALB2):c.1404A>G (p.Thr468=)
|
rs1567221054
|
|
|
NM_024675.4(PALB2):c.1406G>A (p.Cys469Tyr)
|
rs1966970988
|
|
|
NM_024675.4(PALB2):c.1407C>G (p.Cys469Trp)
|
rs730881883
|
|
|
NM_024675.4(PALB2):c.1408_1411dup (p.Gly471fs)
|
|
|
|
NM_024675.4(PALB2):c.1408del (p.Thr470fs)
|
rs2142416902
|
|
|
NM_024675.4(PALB2):c.140C>A (p.Ser47Tyr)
|
rs876659427
|
|
|
NM_024675.4(PALB2):c.1411G>A (p.Gly471Arg)
|
rs1966970790
|
|
|
NM_024675.4(PALB2):c.1411G>C (p.Gly471Arg)
|
rs1966970790
|
|
|
NM_024675.4(PALB2):c.1413A>T (p.Gly471=)
|
|
|
|
NM_024675.4(PALB2):c.1414C>A (p.Gln472Lys)
|
rs2142416694
|
|
|
NM_024675.4(PALB2):c.1414C>T (p.Gln472Ter)
|
|
|
|
NM_024675.4(PALB2):c.1415A>G (p.Gln472Arg)
|
rs867817029
|
|
|
NM_024675.4(PALB2):c.1416_1431del (p.Gln472fs)
|
|
|
|
NM_024675.4(PALB2):c.1416del (p.Gln472fs)
|
|
|
|
NM_024675.4(PALB2):c.1417C>G (p.Pro473Ala)
|
|
|
|
NM_024675.4(PALB2):c.1417C>T (p.Pro473Ser)
|
|
|
|
NM_024675.4(PALB2):c.1417_1433del (p.Pro473fs)
|
|
|
|
NM_024675.4(PALB2):c.1421G>A (p.Ser474Asn)
|
rs786201806
|
|
|
NM_024675.4(PALB2):c.1422T>C (p.Ser474=)
|
rs878855100
|
|
|
NM_024675.4(PALB2):c.1422T>G (p.Ser474Arg)
|
rs878855100
|
|
|
NM_024675.4(PALB2):c.1424C>A (p.Ser475Ter)
|
rs886039479
|
|
|
NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter)
|
rs886039479
|
|
|
NM_024675.4(PALB2):c.1424C>T (p.Ser475Leu)
|
rs886039479
|
|
|
NM_024675.4(PALB2):c.1424del (p.Ser474_Ser475insTer)
|
rs1555461295
|
|
|
NM_024675.4(PALB2):c.1424dup (p.Arg476fs)
|
rs1555461294
|
|
|
NM_024675.4(PALB2):c.1425_1426insT (p.Arg476Ter)
|
rs876659341
|
|
|
NM_024675.4(PALB2):c.1426del (p.Arg476fs)
|
rs1184981956
|
|
|
NM_024675.4(PALB2):c.1427dup (p.Thr477fs)
|
rs2142416277
|
|
|
NM_024675.4(PALB2):c.1429A>G (p.Thr477Ala)
|
rs1555461285
|
|
|
NM_024675.4(PALB2):c.1429del (p.Thr477fs)
|
rs1555461287
|
|
|
NM_024675.4(PALB2):c.142A>G (p.Ile48Val)
|
rs786203134
|
|
|
NM_024675.4(PALB2):c.1430C>A (p.Thr477Asn)
|
rs1567221020
|
|
|
NM_024675.4(PALB2):c.1431del (p.Ser478fs)
|
rs587776412
|
|
|
NM_024675.4(PALB2):c.1432T>C (p.Ser478Pro)
|
rs1597096071
|
|
|
NM_024675.4(PALB2):c.1433C>G (p.Ser478Cys)
|
rs786203879
|
|
|
NM_024675.4(PALB2):c.1433C>T (p.Ser478Phe)
|
rs786203879
|
|
|
NM_024675.4(PALB2):c.1434_1435del (p.Gln479fs)
|
|
|
|
NM_024675.4(PALB2):c.1435C>G (p.Gln479Glu)
|
rs1060502761
|
|
|
NM_024675.4(PALB2):c.1435C>T (p.Gln479Ter)
|
rs1060502761
|
|
|
NM_024675.4(PALB2):c.1436A>T (p.Gln479Leu)
|
|
|
|
NM_024675.4(PALB2):c.1437_1438del (p.Lys480fs)
|
rs1555461280
|
|
|
NM_024675.4(PALB2):c.1438A>G (p.Lys480Glu)
|
rs1057520653
|
|
|
NM_024675.4(PALB2):c.1438A>T (p.Lys480Ter)
|
rs1057520653
|
|
|
NM_024675.4(PALB2):c.1438_1441del (p.Lys480fs)
|
|
|
|
NM_024675.4(PALB2):c.1440A>G (p.Lys480=)
|
|
|
|
NM_024675.4(PALB2):c.1440del (p.Lys480fs)
|
rs1555461278
|
|
|
NM_024675.4(PALB2):c.1442_1443del (p.Leu481fs)
|
|
|
|
NM_024675.4(PALB2):c.1443T>C (p.Leu481=)
|
|
|
|
NM_024675.4(PALB2):c.1444C>T (p.Leu482Phe)
|
rs753470554
|
|
|
NM_024675.4(PALB2):c.1447_1448del (p.Ser483fs)
|
rs1966967463
|
|
|
NM_024675.4(PALB2):c.1448C>A (p.Ser483Ter)
|
rs1057520736
|
|
|
NM_024675.4(PALB2):c.1449A>T (p.Ser483=)
|
rs1597096030
|
|
|
NM_024675.4(PALB2):c.1450_1453dup (p.Thr485fs)
|
|
|
|
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)
|
rs786203714
|
|
|
NM_024675.4(PALB2):c.1451del (p.Ser483_Leu484insTer)
|
rs1966967065
|
|
|
NM_024675.4(PALB2):c.1452A>T (p.Leu484Phe)
|
rs1262680014
|
|
|
NM_024675.4(PALB2):c.1453del (p.Thr485fs)
|
|
|
|
NM_024675.4(PALB2):c.1454C>T (p.Thr485Ile)
|
rs786202699
|
|
|
NM_024675.4(PALB2):c.1454_1458del (p.Thr485fs)
|
rs2142415370
|
|
|
NM_024675.4(PALB2):c.1456A>G (p.Lys486Glu)
|
rs876658949
|
|
|
NM_024675.4(PALB2):c.1457A>T (p.Lys486Ile)
|
rs864622291
|
|
|
NM_024675.4(PALB2):c.1458A>C (p.Lys486Asn)
|
|
|
|
NM_024675.4(PALB2):c.1458A>G (p.Lys486=)
|
rs1555461270
|
|
|
NM_024675.4(PALB2):c.145A>G (p.Lys49Glu)
|
rs2142457092
|
|
|
NM_024675.4(PALB2):c.1460T>A (p.Val487Asp)
|
rs2142415304
|
|
|
NM_024675.4(PALB2):c.1461C>T (p.Val487=)
|
rs515726069
|
|
|
NM_024675.4(PALB2):c.1462A>C (p.Ser488Arg)
|
rs753124503
|
|
|
NM_024675.4(PALB2):c.1463G>C (p.Ser488Thr)
|
rs767926590
|
|
|
NM_024675.4(PALB2):c.1464C>G (p.Ser488Arg)
|
|
|
|
NM_024675.4(PALB2):c.1465T>C (p.Ser489Pro)
|
rs538225556
|
|
|
NM_024675.4(PALB2):c.1465del (p.Ser489fs)
|
rs1064793220
|
|
|
NM_024675.4(PALB2):c.1467_1468del (p.Pro490fs)
|
rs879253960
|
|
|
NM_024675.4(PALB2):c.1468C>T (p.Pro490Ser)
|
rs878855101
|
|
|
NM_024675.4(PALB2):c.1468_1470delinsTTAACTAAAGTCA (p.Pro490fs)
|
rs1966964908
|
|
|
NM_024675.4(PALB2):c.1469C>T (p.Pro490Leu)
|
rs1060502797
|
|
|
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.1471G>C (p.Ala491Pro)
|
rs577969558
|
|
|
NM_024675.4(PALB2):c.1471G>T (p.Ala491Ser)
|
rs577969558
|
|
|
NM_024675.4(PALB2):c.1472C>T (p.Ala491Val)
|
rs1473779466
|
|
|
NM_024675.4(PALB2):c.1475G>T (p.Gly492Val)
|
rs515726070
|
|
|
NM_024675.4(PALB2):c.1476del (p.Thr494fs)
|
|
|
|
NM_024675.4(PALB2):c.1477C>G (p.Pro493Ala)
|
rs1966964053
|
|
|
NM_024675.4(PALB2):c.1478C>T (p.Pro493Leu)
|
rs770965402
|
|
|
NM_024675.4(PALB2):c.1479del (p.Thr494fs)
|
rs515726071
|
|
|
NM_024675.4(PALB2):c.147_149del (p.Lys50del)
|
rs1967103032
|
|
|
NM_024675.4(PALB2):c.1480A>C (p.Thr494Pro)
|
rs1555461258
|
|
|
NM_024675.4(PALB2):c.1480A>G (p.Thr494Ala)
|
rs1555461258
|
|
|
NM_024675.4(PALB2):c.1481C>T (p.Thr494Ile)
|
rs587782368
|
|
|
NM_024675.4(PALB2):c.1482T>C (p.Thr494=)
|
rs2142414557
|
|
|
NM_024675.4(PALB2):c.1485A>T (p.Glu495Asp)
|
rs1567220888
|
|
|
NM_024675.4(PALB2):c.1485del (p.Asp496fs)
|
rs1555461256
|
|
|
NM_024675.4(PALB2):c.1487A>G (p.Asp496Gly)
|
rs786204228
|
|
|
NM_024675.4(PALB2):c.1487A>T (p.Asp496Val)
|
rs786204228
|
|
|
NM_024675.4(PALB2):c.1488T>A (p.Asp496Glu)
|
|
|
|
NM_024675.4(PALB2):c.148A>G (p.Lys50Glu)
|
rs1967103124
|
|
|
NM_024675.4(PALB2):c.1490A>G (p.Asn497Ser)
|
|
|
|
NM_024675.4(PALB2):c.1490del (p.Asn497fs)
|
rs1555461253
|
|
|
NM_024675.4(PALB2):c.1491T>A (p.Asn497Lys)
|
rs374707677
|
|
|
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.1493A>T (p.Asp498Val)
|
rs1966962467
|
|
|
NM_024675.4(PALB2):c.1495T>C (p.Leu499=)
|
rs1597095836
|
|
|
NM_024675.4(PALB2):c.1496T>A (p.Leu499Ter)
|
rs886039620
|
|
|
NM_024675.4(PALB2):c.1497G>A (p.Leu499=)
|
rs748315431
|
|
|
NM_024675.4(PALB2):c.1497G>T (p.Leu499Phe)
|
rs748315431
|
|
|
NM_024675.4(PALB2):c.1498T>C (p.Ser500Pro)
|
rs869025294
|
|
|
NM_024675.4(PALB2):c.1499C>G (p.Ser500Cys)
|
rs1966961724
|
|
|
NM_024675.4(PALB2):c.1499C>T (p.Ser500Phe)
|
rs1966961724
|
|
|
NM_024675.4(PALB2):c.14C>T (p.Pro5Leu)
|
rs1967234897
|
|
|
NM_024675.4(PALB2):c.1500T>C (p.Ser500=)
|
rs1555461248
|
|
|
NM_024675.4(PALB2):c.1501A>G (p.Arg501Gly)
|
rs1966961551
|
|
|
NM_024675.4(PALB2):c.1502G>A (p.Arg501Lys)
|
rs1966961470
|
|
|
NM_024675.4(PALB2):c.1506G>A (p.Lys502=)
|
rs371142570
|
|
|
NM_024675.4(PALB2):c.1506G>C (p.Lys502Asn)
|
rs371142570
|
|
|
NM_024675.4(PALB2):c.1507G>C (p.Ala503Pro)
|
rs1555461243
|
|
|
NM_024675.4(PALB2):c.150A>T (p.Lys50Asn)
|
rs1967102886
|
|
|
NM_024675.4(PALB2):c.1510G>A (p.Val504Ile)
|
rs771846754
|
|
|
NM_024675.4(PALB2):c.1510G>C (p.Val504Leu)
|
|
|
|
NM_024675.4(PALB2):c.1510G>T (p.Val504Phe)
|
|
|
|
NM_024675.4(PALB2):c.1512T>C (p.Val504=)
|
|
|
|
NM_024675.4(PALB2):c.1515C>G (p.Ala505=)
|
|
|
|
NM_024675.4(PALB2):c.1516del (p.Gln506fs)
|
|
|
|
NM_024675.4(PALB2):c.1518A>G (p.Gln506=)
|
rs1555461234
|
|
|
NM_024675.4(PALB2):c.151A>T (p.Thr51Ser)
|
rs2142456898
|
|
|
NM_024675.4(PALB2):c.1520C>T (p.Ala507Val)
|
|
|
|
NM_024675.4(PALB2):c.1522C>T (p.Pro508Ser)
|
rs1597095773
|
|
|
NM_024675.4(PALB2):c.1523C>A (p.Pro508His)
|
rs2142413565
|
|
|
NM_024675.4(PALB2):c.1523C>G (p.Pro508Arg)
|
|
|
|
NM_024675.4(PALB2):c.1523C>T (p.Pro508Leu)
|
rs2142413565
|
|
|
NM_024675.4(PALB2):c.1524T>C (p.Pro508=)
|
rs1597095768
|
|
|
NM_024675.4(PALB2):c.1524del (p.Gly509fs)
|
|
|
|
NM_024675.4(PALB2):c.1525G>C (p.Gly509Arg)
|
rs1567220815
|
|
|
NM_024675.4(PALB2):c.1526G>T (p.Gly509Val)
|
|
|
|
NM_024675.4(PALB2):c.1528A>G (p.Arg510Gly)
|
rs1597095753
|
|
|
NM_024675.4(PALB2):c.1529_1535del (p.Arg510fs)
|
|
|
|
NM_024675.4(PALB2):c.1530A>C (p.Arg510Ser)
|
rs1555461232
|
|
|
NM_024675.4(PALB2):c.1532G>A (p.Arg511Lys)
|
rs1555461231
|
|
|
NM_024675.4(PALB2):c.1533A>T (p.Arg511Ser)
|
rs941787019
|
|
|
NM_024675.4(PALB2):c.1534T>C (p.Tyr512His)
|
rs1966959567
|
|
|
NM_024675.4(PALB2):c.1534del (p.Tyr512fs)
|
|
|
|
NM_024675.4(PALB2):c.1535A>G (p.Tyr512Cys)
|
rs1966959384
|
|
|
NM_024675.4(PALB2):c.1535dup (p.Tyr512Ter)
|
rs1966959467
|
|
|
NM_024675.4(PALB2):c.1536C>A (p.Tyr512Ter)
|
rs1567220802
|
|
|
NM_024675.4(PALB2):c.1536C>G (p.Tyr512Ter)
|
|
|
|
NM_024675.4(PALB2):c.1537A>C (p.Thr513Pro)
|
rs1060502741
|
|
|
NM_024675.4(PALB2):c.1537A>G (p.Thr513Ala)
|
rs1060502741
|
|
|
NM_024675.4(PALB2):c.1538C>A (p.Thr513Lys)
|
rs778890869
|
|
|
NM_024675.4(PALB2):c.1538del (p.Thr513fs)
|
rs879253892
|
|
|
NM_024675.4(PALB2):c.1539A>T (p.Thr513=)
|
rs786202974
|
|
|
NM_024675.4(PALB2):c.1539dup (p.Gly514fs)
|
rs1567220784
|
|
|
NM_024675.4(PALB2):c.153A>G (p.Thr51=)
|
|
|
|
NM_024675.4(PALB2):c.1541del (p.Gly514fs)
|
|
|
|
NM_024675.4(PALB2):c.1542A>G (p.Gly514=)
|
rs2142413046
|
|
|
NM_024675.4(PALB2):c.1543A>T (p.Lys515Ter)
|
|
|
|
NM_024675.4(PALB2):c.1546del (p.Arg516fs)
|
rs587781560
|
|
|
NM_024675.4(PALB2):c.1546dup (p.Arg516fs)
|
rs587781560
|
|
|
NM_024675.4(PALB2):c.1547G>T (p.Arg516Ile)
|
|
|
|
NM_024675.4(PALB2):c.1547_1548del (p.Arg516fs)
|
rs2142412914
|
|
|
NM_024675.4(PALB2):c.1549A>C (p.Lys517Gln)
|
|
|
|
NM_024675.4(PALB2):c.1549A>T (p.Lys517Ter)
|
|
|
|
NM_024675.4(PALB2):c.1550_1551del (p.Lys517fs)
|
|
|
|
NM_024675.4(PALB2):c.1551dup (p.Ser518fs)
|
|
|
|
NM_024675.4(PALB2):c.1553C>A (p.Ser518Ter)
|
rs1060502805
|
|
|
NM_024675.4(PALB2):c.1553C>G (p.Ser518Ter)
|
rs1060502805
|
|
|
NM_024675.4(PALB2):c.1555G>C (p.Ala519Pro)
|
rs1597095651
|
|
|
NM_024675.4(PALB2):c.1556C>G (p.Ala519Gly)
|
rs1340452845
|
|
|
NM_024675.4(PALB2):c.1556C>T (p.Ala519Val)
|
rs1340452845
|
|
|
NM_024675.4(PALB2):c.1559G>A (p.Cys520Tyr)
|
rs1966957419
|
|
|
NM_024675.4(PALB2):c.155T>C (p.Val52Ala)
|
rs373970237
|
|
|
NM_024675.4(PALB2):c.1560C>A (p.Cys520Ter)
|
|
|
|
NM_024675.4(PALB2):c.1561A>G (p.Thr521Ala)
|
|
|
|
NM_024675.4(PALB2):c.1561A>T (p.Thr521Ser)
|
|
|
|
NM_024675.4(PALB2):c.1562C>A (p.Thr521Asn)
|
rs1555461218
|
|
|
NM_024675.4(PALB2):c.1562C>T (p.Thr521Ile)
|
rs1555461218
|
|
|
NM_024675.4(PALB2):c.1563C>T (p.Thr521=)
|
rs864622170
|
|
|
NM_024675.4(PALB2):c.1565C>T (p.Pro522Leu)
|
|
|
|
NM_024675.4(PALB2):c.1565del (p.Pro522fs)
|
rs1555461217
|
|
|
NM_024675.4(PALB2):c.1566A>G (p.Pro522=)
|
rs1597095620
|
|
|
NM_024675.4(PALB2):c.1567G>A (p.Ala523Thr)
|
|
|
|
NM_024675.4(PALB2):c.1568C>G (p.Ala523Gly)
|
rs1966956742
|
|
|
NM_024675.4(PALB2):c.1569A>T (p.Ala523=)
|
rs1200825980
|
|
|
NM_024675.4(PALB2):c.156A>G (p.Val52=)
|
|
|
|
NM_024675.4(PALB2):c.1570_1571delinsAG (p.Ser524Arg)
|
rs1966956569
|
|
|
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter)
|
rs587776413
|
|
|
NM_024675.4(PALB2):c.1573G>T (p.Asp525Tyr)
|
rs876659074
|
|
|
NM_024675.4(PALB2):c.1574A>G (p.Asp525Gly)
|
|
|
|
NM_024675.4(PALB2):c.1574A>T (p.Asp525Val)
|
rs1966956081
|
|
|
NM_024675.4(PALB2):c.1575del (p.His526fs)
|
rs2142412137
|
|
|
NM_024675.4(PALB2):c.1576C>G (p.His526Asp)
|
rs529894848
|
|
|
NM_024675.4(PALB2):c.1578T>C (p.His526=)
|
rs45603832
|
|
|
NM_024675.4(PALB2):c.1579T>C (p.Cys527Arg)
|
rs1597095571
|
|
|
NM_024675.4(PALB2):c.157G>A (p.Glu53Lys)
|
rs1184603042
|
|
|
NM_024675.4(PALB2):c.157GAA[1] (p.Glu54del)
|
rs876660197
|
|
|
NM_024675.4(PALB2):c.1580G>T (p.Cys527Phe)
|
|
|
|
NM_024675.4(PALB2):c.1581T>C (p.Cys527=)
|
rs2142411961
|
|
|
NM_024675.4(PALB2):c.1582G>C (p.Glu528Gln)
|
|
|
|
NM_024675.4(PALB2):c.1582G>T (p.Glu528Ter)
|
|
|
|
NM_024675.4(PALB2):c.1583A>G (p.Glu528Gly)
|
|
|
|
NM_024675.4(PALB2):c.1585C>A (p.Pro529Thr)
|
|
|
|
NM_024675.4(PALB2):c.1585C>G (p.Pro529Ala)
|
rs560839514
|
|
|
NM_024675.4(PALB2):c.1585C>T (p.Pro529Ser)
|
rs560839514
|
|
|
NM_024675.4(PALB2):c.1586C>T (p.Pro529Leu)
|
rs1597095559
|
|
|
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.1587_1589delinsCC (p.Leu531fs)
|
|
|
|
NM_024675.4(PALB2):c.1588C>T (p.Leu530Phe)
|
rs876659671
|
|
|
NM_024675.4(PALB2):c.1591T>C (p.Leu531=)
|
rs2142411740
|
|
|
NM_024675.4(PALB2):c.1591_1592del (p.Leu531fs)
|
rs180177102
|
|
|
NM_024675.4(PALB2):c.1591_1600del (p.Pro532fs)
|
rs587776414
|
|
|
NM_024675.4(PALB2):c.1592T>A (p.Leu531Ter)
|
|
|
|
NM_024675.4(PALB2):c.1592del (p.Leu531fs)
|
rs180177102
|
|
|
NM_024675.4(PALB2):c.1593_1594delinsAA (p.Pro532Thr)
|
rs1060502753
|
|
|
NM_024675.4(PALB2):c.1595C>T (p.Pro532Leu)
|
rs1555461202
|
|
|
NM_024675.4(PALB2):c.1596A>C (p.Pro532=)
|
|
|
|
NM_024675.4(PALB2):c.1597del (p.Thr533fs)
|
rs2142411591
|
|
|
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.1600T>G (p.Ser534Ala)
|
rs1064793824
|
|
|
NM_024675.4(PALB2):c.1601C>G (p.Ser534Cys)
|
rs1555461200
|
|
|
NM_024675.4(PALB2):c.1604G>C (p.Ser535Thr)
|
rs1966953852
|
|
|
NM_024675.4(PALB2):c.1607T>C (p.Leu536Pro)
|
rs1555461198
|
|
|
NM_024675.4(PALB2):c.160G>C (p.Glu54Gln)
|
rs1567224004
|
|
|
NM_024675.4(PALB2):c.1610C>A (p.Ser537Ter)
|
|
|
|
NM_024675.4(PALB2):c.1611G>C (p.Ser537=)
|
rs730881874
|
|
|
NM_024675.4(PALB2):c.1613_1619del (p.Ile538fs)
|
rs1966952995
|
|
|
NM_024675.4(PALB2):c.1614T>C (p.Ile538=)
|
rs1060504713
|
|
|
NM_024675.4(PALB2):c.1614T>G (p.Ile538Met)
|
rs1060504713
|
|
|
NM_024675.4(PALB2):c.1614del (p.Ile538fs)
|
|
|
|
NM_024675.4(PALB2):c.1615G>A (p.Val539Ile)
|
|
|
|
NM_024675.4(PALB2):c.1617T>C (p.Val539=)
|
rs776807758
|
|
|
NM_024675.4(PALB2):c.1619A>G (p.Asn540Ser)
|
rs1064793609
|
|
|
NM_024675.4(PALB2):c.1619dup (p.Asn540fs)
|
rs1555461192
|
|
|
NM_024675.4(PALB2):c.1621A>C (p.Arg541=)
|
rs1597095457
|
|
|
NM_024675.4(PALB2):c.1622G>A (p.Arg541Lys)
|
rs1597095450
|
|
|
NM_024675.4(PALB2):c.1622G>C (p.Arg541Thr)
|
rs1597095450
|
|
|
NM_024675.4(PALB2):c.1623G>C (p.Arg541Ser)
|
rs745665968
|
|
|
NM_024675.4(PALB2):c.1623G>T (p.Arg541Ser)
|
rs745665968
|
|
|
NM_024675.4(PALB2):c.1627_1639delinsTT (p.Lys543fs)
|
|
|
|
NM_024675.4(PALB2):c.1628A>G (p.Lys543Arg)
|
rs370468259
|
|
|
NM_024675.4(PALB2):c.1629G>C (p.Lys543Asn)
|
rs1274647317
|
|
|
NM_024675.4(PALB2):c.1631A>G (p.Glu544Gly)
|
rs1567220628
|
|
|
NM_024675.4(PALB2):c.1638C>T (p.Val546=)
|
rs876659604
|
|
|
NM_024675.4(PALB2):c.163C>G (p.Gln55Glu)
|
rs1064793772
|
|
|
NM_024675.4(PALB2):c.163_164dup (p.Gln55fs)
|
|
|
|
NM_024675.4(PALB2):c.1640C>A (p.Thr547Asn)
|
rs1597095364
|
|
|
NM_024675.4(PALB2):c.1641C>G (p.Thr547=)
|
|
|
|
NM_024675.4(PALB2):c.1641_1669del (p.Ser548fs)
|
|
|
|
NM_024675.4(PALB2):c.1642T>C (p.Ser548Pro)
|
rs1597095353
|
|
|
NM_024675.4(PALB2):c.1643C>G (p.Ser548Ter)
|
rs1241049372
|
|
|
NM_024675.4(PALB2):c.1643C>T (p.Ser548Leu)
|
rs1241049372
|
|
|
NM_024675.4(PALB2):c.1644A>C (p.Ser548=)
|
rs1597095339
|
|
|
NM_024675.4(PALB2):c.1644del (p.His549fs)
|
|
|
|
NM_024675.4(PALB2):c.1645C>T (p.His549Tyr)
|
rs1966950582
|
|
|
NM_024675.4(PALB2):c.1645del (p.His549fs)
|
|
|
|
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.1647_1648del (p.His549fs)
|
rs786201773
|
|
|
NM_024675.4(PALB2):c.1647del (p.His549fs)
|
|
|
|
NM_024675.4(PALB2):c.1648A>G (p.Lys550Glu)
|
rs1555461178
|
|
|
NM_024675.4(PALB2):c.1648A>T (p.Lys550Ter)
|
rs1555461178
|
|
|
NM_024675.4(PALB2):c.1649A>G (p.Lys550Arg)
|
|
|
|
NM_024675.4(PALB2):c.164A>T (p.Gln55Leu)
|
rs1555462056
|
|
|
NM_024675.4(PALB2):c.1650A>G (p.Lys550=)
|
rs1060504716
|
|
|
NM_024675.4(PALB2):c.1650del (p.Lys550fs)
|
rs886039624
|
|
|
NM_024675.4(PALB2):c.1651T>C (p.Tyr551His)
|
|
|
|
NM_024675.4(PALB2):c.1652A>G (p.Tyr551Cys)
|
rs1966949762
|
|
|
NM_024675.4(PALB2):c.1652_1653del (p.Tyr551fs)
|
rs2142410052
|
|
|
NM_024675.4(PALB2):c.1652dup (p.Tyr551Ter)
|
rs1555461176
|
|
|
NM_024675.4(PALB2):c.1653T>C (p.Tyr551=)
|
rs118203997
|
|
|
NM_024675.4(PALB2):c.1653T>G (p.Tyr551Ter)
|
rs118203997
|
|
|
NM_024675.4(PALB2):c.1653del (p.Gln552fs)
|
rs1555461174
|
|
|
NM_024675.4(PALB2):c.1656G>A (p.Gln552=)
|
rs180177104
|
|
|
NM_024675.4(PALB2):c.1659C>A (p.His553Gln)
|
rs370318597
|
|
|
NM_024675.4(PALB2):c.1659C>T (p.His553=)
|
rs370318597
|
|
|
NM_024675.4(PALB2):c.1661A>G (p.Glu554Gly)
|
rs1555461164
|
|
|
NM_024675.4(PALB2):c.1664A>G (p.Lys555Arg)
|
rs1555461163
|
|
|
NM_024675.4(PALB2):c.1665A>G (p.Lys555=)
|
rs45518838
|
|
|
NM_024675.4(PALB2):c.1665A>T (p.Lys555Asn)
|
rs45518838
|
|
|
NM_024675.4(PALB2):c.1667T>C (p.Leu556Ser)
|
rs1966947813
|
|
|
NM_024675.4(PALB2):c.1668dup (p.Phe557fs)
|
|
|
|
NM_024675.4(PALB2):c.1669T>C (p.Phe557Leu)
|
rs1326785676
|
|
|
NM_024675.4(PALB2):c.166G>T (p.Asp56Tyr)
|
|
|
|
NM_024675.4(PALB2):c.1671T>C (p.Phe557=)
|
rs1597095213
|
|
|
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs)
|
rs1060502734
|
|
|
NM_024675.4(PALB2):c.1671_1676delinsCG (p.Ile558fs)
|
|
|
|
NM_024675.4(PALB2):c.1673T>C (p.Ile558Thr)
|
rs766583287
|
|
|
NM_024675.4(PALB2):c.1675C>G (p.Gln559Glu)
|
rs1555461154
|
|
|
NM_024675.4(PALB2):c.1675_1676delinsTG
|
|
|
|
NM_024675.4(PALB2):c.1676A>T (p.Gln559Leu)
|
|
|
|
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs)
|
rs515726073
|
|
|
NM_024675.4(PALB2):c.1676_1677delinsGC (p.Gln559Arg)
|
|
|
|
NM_024675.4(PALB2):c.1677A>G (p.Gln559=)
|
|
|
|
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer)
|
rs515726073
|
|
|
NM_024675.4(PALB2):c.1677dup (p.Val560fs)
|
|
|
|
NM_024675.4(PALB2):c.1678G>A (p.Val560Met)
|
rs1966946608
|
|
|
NM_024675.4(PALB2):c.167A>G (p.Asp56Gly)
|
rs1567223986
|
|
|
NM_024675.4(PALB2):c.1680G>C (p.Val560=)
|
rs2142409320
|
|
|
NM_024675.4(PALB2):c.1684+10G>A
|
rs1057517620
|
|
|
NM_024675.4(PALB2):c.1684+10G>T
|
rs1057517620
|
|
|
NM_024675.4(PALB2):c.1684+11A>G
|
rs201368043
|
|
|
NM_024675.4(PALB2):c.1684+15G>A
|
|
|
|
NM_024675.4(PALB2):c.1684+17T>G
|
|
|
|
NM_024675.4(PALB2):c.1684+18TGA[7]
|
rs368593832
|
|
|
NM_024675.4(PALB2):c.1684+18TGA[9]
|
rs368593832
|
|
|
NM_024675.4(PALB2):c.1684+19G>C
|
|
|
|
NM_024675.4(PALB2):c.1684+1G>A
|
rs1555461148
|
|
|
NM_024675.4(PALB2):c.1684+1G>T
|
rs1555461148
|
|
|
NM_024675.4(PALB2):c.1684+20A>G
|
|
|
|
NM_024675.4(PALB2):c.1684+2T>A
|
|
|
|
NM_024675.4(PALB2):c.1684+42_1684+43insATG
|
rs180177106
|
|
|
NM_024675.4(PALB2):c.1684+4A>G
|
|
|
|
NM_024675.4(PALB2):c.1684+6_1684+9del
|
rs1966945941
|
|
|
NM_024675.4(PALB2):c.1684+6del
|
rs1555461147
|
|
|
NM_024675.4(PALB2):c.1684+7C>G
|
rs1160398551
|
|
|
NM_024675.4(PALB2):c.1684G>A (p.Gly562Arg)
|
rs786202239
|
|
|
NM_024675.4(PALB2):c.1685-10T>C
|
rs1567219034
|
|
|
NM_024675.4(PALB2):c.1685-10del
|
|
|
|
NM_024675.4(PALB2):c.1685-14T>C
|
rs780772404
|
|
|
NM_024675.4(PALB2):c.1685-15A>C
|
|
|
|
NM_024675.4(PALB2):c.1685-17_1685-16del
|
rs2142391624
|
|
|
NM_024675.4(PALB2):c.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC
|
|
|
|
NM_024675.4(PALB2):c.1685-1G>A
|
rs1057520645
|
|
|
NM_024675.4(PALB2):c.1685-1G>C
|
rs1057520645
|
|
|
NM_024675.4(PALB2):c.1685-20G>A
|
rs1555460707
|
|
|
NM_024675.4(PALB2):c.1685-28T>C
|
rs1597091553
|
|
|
NM_024675.4(PALB2):c.1685-2A>C
|
rs754660432
|
|
|
NM_024675.4(PALB2):c.1685-2A>G
|
rs754660432
|
|
|
NM_024675.4(PALB2):c.1685-3T>G
|
rs1254059410
|
|
|
NM_024675.4(PALB2):c.1685-3_1685-2insCTTATTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCGATCTCCTGACCTCGCGATCCGACCACCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGACCAGCC
|
|
|
|
NM_024675.4(PALB2):c.1685-3dup
|
rs2142391465
|
|
|
NM_024675.4(PALB2):c.1685-58C>A
|
rs180177108
|
|
|
NM_024675.4(PALB2):c.1685-6C>T
|
|
|
|
NM_024675.4(PALB2):c.1685-6_1685-4del
|
rs2142391480
|
|
|
NM_024675.4(PALB2):c.1685-70T>G
|
rs180177109
|
|
|
NM_024675.4(PALB2):c.1685-7T>A
|
rs1555460705
|
|
|
NM_024675.4(PALB2):c.1685-7T>G
|
rs1555460705
|
|
|
NM_024675.4(PALB2):c.1685-9C>T
|
rs2142391529
|
|
|
NM_024675.4(PALB2):c.1685G>A (p.Gly562Glu)
|
rs2142391406
|
|
|
NM_024675.4(PALB2):c.1686G>A (p.Gly562=)
|
rs1555460700
|
|
|
NM_024675.4(PALB2):c.1687A>G (p.Lys563Glu)
|
|
|
|
NM_024675.4(PALB2):c.1688A>C (p.Lys563Thr)
|
rs1396029242
|
|
|
NM_024675.4(PALB2):c.168T>C (p.Asp56=)
|
rs1203135643
|
|
|
NM_024675.4(PALB2):c.168T>G (p.Asp56Glu)
|
rs1203135643
|
|
|
NM_024675.4(PALB2):c.1692A>G (p.Lys564=)
|
rs786201842
|
|
|
NM_024675.4(PALB2):c.1692_1693del (p.Arg566fs)
|
|
|
|
NM_024675.4(PALB2):c.1694G>A (p.Ser565Asn)
|
rs876659914
|
|
|
NM_024675.4(PALB2):c.1694GTC[1] (p.Arg566del)
|
rs1597091471
|
|
|
NM_024675.4(PALB2):c.1695T>A (p.Ser565Arg)
|
|
|
|
NM_024675.4(PALB2):c.1697G>C (p.Arg566Pro)
|
rs144617793
|
|
|
NM_024675.4(PALB2):c.1697G>T (p.Arg566Leu)
|
rs144617793
|
|
|
NM_024675.4(PALB2):c.1698T>C (p.Arg566=)
|
rs373141871
|
|
|
NM_024675.4(PALB2):c.1699C>A (p.His567Asn)
|
rs370422990
|
|
|
NM_024675.4(PALB2):c.16G>A (p.Gly6Arg)
|
rs1967234587
|
|
|
NM_024675.4(PALB2):c.16G>T (p.Gly6Trp)
|
rs1967234587
|
|
|
NM_024675.4(PALB2):c.1700A>G (p.His567Arg)
|
rs765722926
|
|
|
NM_024675.4(PALB2):c.1701T>C (p.His567=)
|
|
|
|
NM_024675.4(PALB2):c.1702C>A (p.Gln568Lys)
|
rs876659354
|
|
|
NM_024675.4(PALB2):c.1702C>T (p.Gln568Ter)
|
rs876659354
|
|
|
NM_024675.4(PALB2):c.1702del (p.Gln568fs)
|
|
|
|
NM_024675.4(PALB2):c.1703A>G (p.Gln568Arg)
|
|
|
|
NM_024675.4(PALB2):c.1704A>C (p.Gln568His)
|
rs876658676
|
|
|
NM_024675.4(PALB2):c.1704A>G (p.Gln568=)
|
rs876658676
|
|
|
NM_024675.4(PALB2):c.1704A>T (p.Gln568His)
|
|
|
|
NM_024675.4(PALB2):c.1704_1707del (p.Lys569fs)
|
rs1060502759
|
|
|
NM_024675.4(PALB2):c.1706A>C (p.Lys569Thr)
|
rs1966867586
|
|
|
NM_024675.4(PALB2):c.1706_1707del (p.Lys569fs)
|
rs1060502759
|
|
|
NM_024675.4(PALB2):c.1707A>C (p.Lys569Asn)
|
|
|
|
NM_024675.4(PALB2):c.1708G>A (p.Glu570Lys)
|
rs786203747
|
|
|
NM_024675.4(PALB2):c.1708G>C (p.Glu570Gln)
|
rs786203747
|
|
|
NM_024675.4(PALB2):c.1709_1710del (p.Glu570fs)
|
rs1597091425
|
|
|
NM_024675.4(PALB2):c.170G>A (p.Cys57Tyr)
|
rs876660029
|
|
|
NM_024675.4(PALB2):c.1712A>T (p.Asp571Val)
|
rs1597091418
|
|
|
NM_024675.4(PALB2):c.1714del (p.Ser572fs)
|
rs879254121
|
|
|
NM_024675.4(PALB2):c.1716C>T (p.Ser572=)
|
rs2142390847
|
|
|
NM_024675.4(PALB2):c.1722T>C (p.Ser574=)
|
rs2142390779
|
|
|
NM_024675.4(PALB2):c.1723del (p.Trp575fs)
|
|
|
|
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)
|
rs730881876
|
|
|
NM_024675.4(PALB2):c.1725G>A (p.Trp575Ter)
|
|
|
|
NM_024675.4(PALB2):c.1725G>T (p.Trp575Cys)
|
|
|
|
NM_024675.4(PALB2):c.1725del (p.Ser574_Trp575insTer)
|
rs1555460682
|
|
|
NM_024675.4(PALB2):c.1726A>G (p.Ser576Gly)
|
|
|
|
NM_024675.4(PALB2):c.1726A>T (p.Ser576Cys)
|
rs1555460681
|
|
|
NM_024675.4(PALB2):c.1727G>A (p.Ser576Asn)
|
rs879253907
|
|
|
NM_024675.4(PALB2):c.1729A>G (p.Asn577Asp)
|
rs1567218928
|
|
|
NM_024675.4(PALB2):c.172T>C (p.Leu58=)
|
rs1597101395
|
|
|
NM_024675.4(PALB2):c.172T>G (p.Leu58Val)
|
rs1597101395
|
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
|
NM_024675.4(PALB2):c.1730A>G (p.Asn577Ser)
|
rs1597091371
|
|
|
NM_024675.4(PALB2):c.1731_1732insC (p.Ser578fs)
|
|
|
|
NM_024675.4(PALB2):c.1732A>G (p.Ser578Gly)
|
rs764023822
|
|
|
NM_024675.4(PALB2):c.1732A>T (p.Ser578Cys)
|
rs764023822
|
|
|
NM_024675.4(PALB2):c.1733del (p.Ser578fs)
|
|
|
|
NM_024675.4(PALB2):c.1734T>C (p.Ser578=)
|
rs757036149
|
|
|
NM_024675.4(PALB2):c.1735G>A (p.Ala579Thr)
|
rs1567218910
|
|
|
NM_024675.4(PALB2):c.1735G>C (p.Ala579Pro)
|
rs1567218910
|
|
|
NM_024675.4(PALB2):c.1735_1736dup (p.Tyr580fs)
|
rs2142390444
|
|
|
NM_024675.4(PALB2):c.1736C>T (p.Ala579Val)
|
rs1567218908
|
|
|
NM_024675.4(PALB2):c.1737T>G (p.Ala579=)
|
rs1597091336
|
|
|
NM_024675.4(PALB2):c.1738T>C (p.Tyr580His)
|
|
|
|
NM_024675.4(PALB2):c.173T>C (p.Leu58Ser)
|
rs1567223972
|
|
|
NM_024675.4(PALB2):c.173dup (p.Leu58fs)
|
rs2142456344
|
|
|
NM_024675.4(PALB2):c.1740T>G (p.Tyr580Ter)
|
|
|
|
NM_024675.4(PALB2):c.1741_1744del (p.Leu581fs)
|
rs1555460671
|
|
|
NM_024675.4(PALB2):c.1742del (p.Leu581fs)
|
rs1060502803
|
|
|
NM_024675.4(PALB2):c.1745C>G (p.Ser582Cys)
|
rs865777690
|
|
|
NM_024675.4(PALB2):c.1745C>T (p.Ser582Phe)
|
rs865777690
|
|
|
NM_024675.4(PALB2):c.1746C>T (p.Ser582=)
|
rs1057520985
|
|
|
NM_024675.4(PALB2):c.1748T>C (p.Leu583Ser)
|
rs587782151
|
|
|
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp)
|
rs587782151
|
|
|
NM_024675.4(PALB2):c.1749G>C (p.Leu583Phe)
|
rs1966866916
|
|
|
NM_024675.4(PALB2):c.174G>C (p.Leu58Phe)
|
|
|
|
NM_024675.4(PALB2):c.174G>T (p.Leu58Phe)
|
|
|
|
NM_024675.4(PALB2):c.1750G>A (p.Asp584Asn)
|
rs1966866891
|
|
|
NM_024675.4(PALB2):c.1751A>G (p.Asp584Gly)
|
rs2142390124
|
|
|
NM_024675.4(PALB2):c.1751ATG[4] (p.Asp586dup)
|
rs1555460665
|
|
|
NM_024675.4(PALB2):c.1751del (p.Asp584fs)
|
rs1966866862
|
|
|
NM_024675.4(PALB2):c.1752T>C (p.Asp584=)
|
rs1060504717
|
|
|
NM_024675.4(PALB2):c.1752T>G (p.Asp584Glu)
|
rs1060504717
|
|
|
NM_024675.4(PALB2):c.1753del (p.Asp585fs)
|
rs1555460670
|
|
|
NM_024675.4(PALB2):c.1754A>C (p.Asp585Ala)
|
rs1597091293
|
|
|
NM_024675.4(PALB2):c.1754A>G (p.Asp585Gly)
|
rs1597091293
|
|
|
NM_024675.4(PALB2):c.1755T>C (p.Asp585=)
|
rs786203049
|
|
|
NM_024675.4(PALB2):c.1756G>T (p.Asp586Tyr)
|
rs587781954
|
|
|
NM_024675.4(PALB2):c.1758T>C (p.Asp586=)
|
rs864622567
|
|
|
NM_024675.4(PALB2):c.1758del (p.Asp586fs)
|
rs2142389968
|
|
|
NM_024675.4(PALB2):c.1759del (p.Ala587fs)
|
rs2142389921
|
|
|
NM_024675.4(PALB2):c.1761T>C (p.Ala587=)
|
rs1060504715
|
|
|
NM_024675.4(PALB2):c.1762T>C (p.Phe588Leu)
|
rs762820168
|
|
|
NM_024675.4(PALB2):c.1765_1771del (p.Thr589fs)
|
rs1597091247
|
|
|
NM_024675.4(PALB2):c.1769C>G (p.Ala590Gly)
|
rs1966866430
|
|
|
NM_024675.4(PALB2):c.1769C>T (p.Ala590Val)
|
rs1966866430
|
|
|
NM_024675.4(PALB2):c.1772C>T (p.Pro591Leu)
|
|
|
|
NM_024675.4(PALB2):c.1773A>G (p.Pro591=)
|
rs1597091237
|
|
|
NM_024675.4(PALB2):c.1775T>G (p.Phe592Cys)
|
rs2142389552
|
|
|
NM_024675.4(PALB2):c.1776dup (p.His593fs)
|
rs1597091230
|
|
|
NM_024675.4(PALB2):c.1778A>G (p.His593Arg)
|
rs1555460654
|
|
|
NM_024675.4(PALB2):c.1779T>C (p.His593=)
|
rs1475548158
|
|
|
NM_024675.4(PALB2):c.1779T>G (p.His593Gln)
|
|
|
|
NM_024675.4(PALB2):c.177T>A (p.Ser59=)
|
|
|
|
NM_024675.4(PALB2):c.177T>C (p.Ser59=)
|
rs1060504707
|
|
|
NM_024675.4(PALB2):c.1781G>A (p.Arg594Lys)
|
rs1597091217
|
|
|
NM_024675.4(PALB2):c.1781G>C (p.Arg594Thr)
|
rs1597091217
|
|
|
NM_024675.4(PALB2):c.1783G>A (p.Asp595Asn)
|
rs1555460653
|
|
|
NM_024675.4(PALB2):c.1783G>T (p.Asp595Tyr)
|
|
|
|
NM_024675.4(PALB2):c.1784A>G (p.Asp595Gly)
|
rs1555460652
|
|
|
NM_024675.4(PALB2):c.1784A>T (p.Asp595Val)
|
|
|
|
NM_024675.4(PALB2):c.1784_1785delinsCG (p.Asp595Ala)
|
rs1567218820
|
|
|
NM_024675.4(PALB2):c.1784del (p.Asp595fs)
|
rs2142389365
|
|
|
NM_024675.4(PALB2):c.1785T>A (p.Asp595Glu)
|
rs1555460651
|
|
|
NM_024675.4(PALB2):c.1786G>T (p.Gly596Ter)
|
rs1966866081
|
|
|
NM_024675.4(PALB2):c.1789del (p.Met597fs)
|
rs1555460650
|
|
|
NM_024675.4(PALB2):c.178C>T (p.Gln60Ter)
|
rs886039747
|
|
|
NM_024675.4(PALB2):c.1790T>C (p.Met597Thr)
|
rs786203214
|
|
|
NM_024675.4(PALB2):c.1790T>G (p.Met597Arg)
|
rs786203214
|
|
|
NM_024675.4(PALB2):c.1793T>C (p.Leu598Pro)
|
|
|
|
NM_024675.4(PALB2):c.1796_1805del (p.Ser599fs)
|
|
|
|
NM_024675.4(PALB2):c.1797T>C (p.Ser599=)
|
rs2142389023
|
|
|
NM_024675.4(PALB2):c.1798T>G (p.Leu600Val)
|
rs2142389006
|
|
|
NM_024675.4(PALB2):c.1799T>C (p.Leu600Ser)
|
|
|
|
NM_024675.4(PALB2):c.1799T>G (p.Leu600Ter)
|
rs1966865838
|
|
|
NM_024675.4(PALB2):c.179_189del (p.Gln60fs)
|
|
|
|
NM_024675.4(PALB2):c.1802A>G (p.Lys601Arg)
|
rs1555460644
|
|
|
NM_024675.4(PALB2):c.1802del (p.Lys601fs)
|
|
|
|
NM_024675.4(PALB2):c.1803G>A (p.Lys601=)
|
rs1555460643
|
|
|
NM_024675.4(PALB2):c.1804C>G (p.Gln602Glu)
|
rs876660475
|
|
|
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter)
|
rs876660475
|
|
|
NM_024675.4(PALB2):c.1805A>C (p.Gln602Pro)
|
rs864622768
|
|
|
NM_024675.4(PALB2):c.1805A>T (p.Gln602Leu)
|
rs864622768
|
|
|
NM_024675.4(PALB2):c.1806ACT[3] (p.Leu604_Ser605insLeu)
|
|
|
|
NM_024675.4(PALB2):c.1807C>A (p.Leu603Ile)
|
|
|
|
NM_024675.4(PALB2):c.1807del (p.Leu603fs)
|
rs2142388816
|
|
|
NM_024675.4(PALB2):c.1809A>G (p.Leu603=)
|
rs878855103
|
|
|
NM_024675.4(PALB2):c.180G>A (p.Gln60=)
|
rs1354445034
|
|
|
NM_024675.4(PALB2):c.1811T>C (p.Leu604Pro)
|
rs1555460637
|
|
|
NM_024675.4(PALB2):c.1812G>A (p.Leu604=)
|
rs1057522269
|
|
|
NM_024675.4(PALB2):c.1813T>C (p.Ser605Pro)
|
rs2142388635
|
|
|
NM_024675.4(PALB2):c.1813T>G (p.Ser605Ala)
|
rs2142388635
|
|
|
NM_024675.4(PALB2):c.1814C>G (p.Ser605Cys)
|
rs876658992
|
|
|
NM_024675.4(PALB2):c.1815T>C (p.Ser605=)
|
rs1597091095
|
|
|
NM_024675.4(PALB2):c.1815_1843del (p.Ser605_Phe606insTer)
|
|
|
|
NM_024675.4(PALB2):c.1817_1818del (p.Phe606fs)
|
rs1060499818
|
|
|
NM_024675.4(PALB2):c.1819C>A (p.Leu607Ile)
|
rs1567218740
|
|
|
NM_024675.4(PALB2):c.1819del (p.Leu607fs)
|
|
|
|
NM_024675.4(PALB2):c.181C>T (p.Gln61Ter)
|
rs1967100637
|
|
|
NM_024675.4(PALB2):c.1822A>G (p.Ser608Gly)
|
rs1966865388
|
|
|
NM_024675.4(PALB2):c.1823G>A (p.Ser608Asn)
|
|
|
|
NM_024675.4(PALB2):c.1823_1824del (p.Ser608fs)
|
|
|
|
NM_024675.4(PALB2):c.1824dup (p.Ile609fs)
|
rs1966865368
|
|
|
NM_024675.4(PALB2):c.1828A>C (p.Thr610Pro)
|
rs1555460632
|
|
|
NM_024675.4(PALB2):c.1828A>G (p.Thr610Ala)
|
rs1555460632
|
|
|
NM_024675.4(PALB2):c.1828del (p.Thr610fs)
|
|
|
|
NM_024675.4(PALB2):c.182A>G (p.Gln61Arg)
|
|
|
|
NM_024675.4(PALB2):c.182A>T (p.Gln61Leu)
|
|
|
|
NM_024675.4(PALB2):c.1830A>G (p.Thr610=)
|
rs876659484
|
|
|
NM_024675.4(PALB2):c.1831G>T (p.Asp611Tyr)
|
|
|
|
NM_024675.4(PALB2):c.1832A>G (p.Asp611Gly)
|
|
|
|
NM_024675.4(PALB2):c.1833C>G (p.Asp611Glu)
|
rs779184831
|
|
|
NM_024675.4(PALB2):c.1833C>T (p.Asp611=)
|
rs779184831
|
|
|
NM_024675.4(PALB2):c.1836T>C (p.Phe612=)
|
|
|
|
NM_024675.4(PALB2):c.1837C>G (p.Gln613Glu)
|
rs1966865214
|
|
|
NM_024675.4(PALB2):c.1837C>T (p.Gln613Ter)
|
rs1966865214
|
|
|
NM_024675.4(PALB2):c.1838A>G (p.Gln613Arg)
|
rs1966865170
|
|
|
NM_024675.4(PALB2):c.1838del (p.Gln613fs)
|
rs1057517602
|
|
|
NM_024675.4(PALB2):c.1841T>A (p.Leu614Ter)
|
|
|
|
NM_024675.4(PALB2):c.1841T>C (p.Leu614Ser)
|
rs1555460628
|
|
|
NM_024675.4(PALB2):c.1842A>G (p.Leu614=)
|
rs1597091040
|
|
|
NM_024675.4(PALB2):c.1843C>G (p.Pro615Ala)
|
rs1019525144
|
|
|
NM_024675.4(PALB2):c.1843C>T (p.Pro615Ser)
|
rs1019525144
|
|
|
NM_024675.4(PALB2):c.1844C>T (p.Pro615Leu)
|
rs2142387910
|
|
|
NM_024675.4(PALB2):c.1845del (p.Asp616fs)
|
rs1555460627
|
|
|
NM_024675.4(PALB2):c.1846G>A (p.Asp616Asn)
|
rs786201907
|
|
|
NM_024675.4(PALB2):c.1847A>G (p.Asp616Gly)
|
rs876660063
|
|
|
NM_024675.4(PALB2):c.1847A>T (p.Asp616Val)
|
rs876660063
|
|
|
NM_024675.4(PALB2):c.1848T>C (p.Asp616=)
|
rs863224428
|
|
|
NM_024675.4(PALB2):c.1848dup (p.Glu617Ter)
|
rs1567218690
|
|
|
NM_024675.4(PALB2):c.1849G>A (p.Glu617Lys)
|
rs1966864945
|
|
|
NM_024675.4(PALB2):c.1849_1850insCG (p.Glu617fs)
|
|
|
|
NM_024675.4(PALB2):c.184G>A (p.Asp62Asn)
|
rs1967100410
|
|
|
NM_024675.4(PALB2):c.184G>T (p.Asp62Tyr)
|
|
|
|
NM_024675.4(PALB2):c.1850_1858del (p.Glu617_Phe619del)
|
|
|
|
NM_024675.4(PALB2):c.1851A>G (p.Glu617=)
|
|
|
|
NM_024675.4(PALB2):c.1852G>A (p.Asp618Asn)
|
rs754252373
|
|
|
NM_024675.4(PALB2):c.1857T>C (p.Phe619=)
|
rs1555460623
|
|
|
NM_024675.4(PALB2):c.1857del (p.Phe619fs)
|
rs1966864847
|
|
|
NM_024675.4(PALB2):c.1858G>T (p.Gly620Ter)
|
|
|
|
NM_024675.4(PALB2):c.185del (p.Asp62fs)
|
|
|
|
NM_024675.4(PALB2):c.1861C>T (p.Pro621Ser)
|
rs756116550
|
|
|
NM_024675.4(PALB2):c.1862C>T (p.Pro621Leu)
|
rs1567218668
|
|
|
NM_024675.4(PALB2):c.1863T>C (p.Pro621=)
|
rs587780819
|
|
|
NM_024675.4(PALB2):c.1867A>G (p.Lys623Glu)
|
rs1966864669
|
|
|
NM_024675.4(PALB2):c.1869G>A (p.Lys623=)
|
rs1555460612
|
|
|
NM_024675.4(PALB2):c.1869G>C (p.Lys623Asn)
|
rs1555460612
|
|
|
NM_024675.4(PALB2):c.1869_1874del (p.Leu624_Glu625del)
|
rs1567218638
|
|
|
NM_024675.4(PALB2):c.1870C>A (p.Leu624Ile)
|
rs1555460610
|
|
|
NM_024675.4(PALB2):c.1870C>G (p.Leu624Val)
|
rs1555460610
|
|
|
NM_024675.4(PALB2):c.1870C>T (p.Leu624Phe)
|
rs1555460610
|
|
|
NM_024675.4(PALB2):c.1871T>C (p.Leu624Pro)
|
rs1060502791
|
|
|
NM_024675.4(PALB2):c.1872T>C (p.Leu624=)
|
rs758409916
|
|
|
NM_024675.4(PALB2):c.1872_1891del (p.Glu625fs)
|
rs1966864164
|
|
|
NM_024675.4(PALB2):c.1873del (p.Glu625fs)
|
rs1555460609
|
|
|
NM_024675.4(PALB2):c.1874A>G (p.Glu625Gly)
|
rs1555460607
|
|
|
NM_024675.4(PALB2):c.1875A>G (p.Glu625=)
|
rs1555460606
|
|
|
NM_024675.4(PALB2):c.1876A>C (p.Lys626Gln)
|
rs2142387099
|
|
|
NM_024675.4(PALB2):c.1878A>G (p.Lys626=)
|
rs1567218624
|
|
|
NM_024675.4(PALB2):c.1879G>A (p.Val627Met)
|
rs1567218614
|
|
|
NM_024675.4(PALB2):c.1879G>C (p.Val627Leu)
|
|
|
|
NM_024675.4(PALB2):c.187C>G (p.Leu63Val)
|
rs730881899
|
|
|
NM_024675.4(PALB2):c.1880_1881del (p.Val627fs)
|
rs1597090903
|
|
|
NM_024675.4(PALB2):c.1881G>T (p.Val627=)
|
rs139362268
|
|
|
NM_024675.4(PALB2):c.1881del (p.Lys628fs)
|
|
|
|
NM_024675.4(PALB2):c.1882A>T (p.Lys628Ter)
|
rs1597090894
|
|
|
NM_024675.4(PALB2):c.1883A>T (p.Lys628Met)
|
rs954390684
|
|
|
NM_024675.4(PALB2):c.1886C>A (p.Ser629Tyr)
|
rs1169756751
|
|
|
NM_024675.4(PALB2):c.1886C>G (p.Ser629Cys)
|
|
|
|
NM_024675.4(PALB2):c.1887C>T (p.Ser629=)
|
rs1966864226
|
|
|
NM_024675.4(PALB2):c.1889G>C (p.Cys630Ser)
|
rs1597090878
|
|
|
NM_024675.4(PALB2):c.188T>C (p.Leu63Pro)
|
rs1967100204
|
|
|
NM_024675.4(PALB2):c.1892C>G (p.Ser631Ter)
|
|
|
|
NM_024675.4(PALB2):c.1893A>G (p.Ser631=)
|
|
|
|
NM_024675.4(PALB2):c.1895A>C (p.Glu632Ala)
|
rs1567218562
|
|
|
NM_024675.4(PALB2):c.1896A>G (p.Glu632=)
|
rs2142386584
|
|
|
NM_024675.4(PALB2):c.1897A>G (p.Lys633Glu)
|
rs1555460599
|
|
|
NM_024675.4(PALB2):c.1898A>G (p.Lys633Arg)
|
rs1567218554
|
|
|
NM_024675.4(PALB2):c.1898A>T (p.Lys633Ile)
|
rs1567218554
|
|
|
NM_024675.4(PALB2):c.1899A>G (p.Lys633=)
|
rs765063761
|
|
|
NM_024675.4(PALB2):c.189C>T (p.Leu63=)
|
|
|
|
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.18_22del (p.Lys7fs)
|
|
|
|
NM_024675.4(PALB2):c.1900C>T (p.Pro634Ser)
|
rs2142386489
|
|
|
NM_024675.4(PALB2):c.1901C>A (p.Pro634Gln)
|
|
|
|
NM_024675.4(PALB2):c.1901C>T (p.Pro634Leu)
|
|
|
|
NM_024675.4(PALB2):c.1902A>G (p.Pro634=)
|
rs876658768
|
|
|
NM_024675.4(PALB2):c.1903G>C (p.Val635Leu)
|
|
|
|
NM_024675.4(PALB2):c.1903G>T (p.Val635Leu)
|
rs776389696
|
|
|
NM_024675.4(PALB2):c.1906G>A (p.Glu636Lys)
|
|
|
|
NM_024675.4(PALB2):c.1907A>G (p.Glu636Gly)
|
rs1966863975
|
|
|
NM_024675.4(PALB2):c.1908G>C (p.Glu636Asp)
|
rs1392612467
|
|
|
NM_024675.4(PALB2):c.1909C>A (p.Pro637Thr)
|
|
|
|
NM_024675.4(PALB2):c.1910C>G (p.Pro637Arg)
|
rs878855104
|
|
|
NM_024675.4(PALB2):c.1910C>T (p.Pro637Leu)
|
rs878855104
|
|
|
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.1911del (p.Phe638fs)
|
rs2142386226
|
|
|
NM_024675.4(PALB2):c.1914del (p.Phe638fs)
|
rs1555460593
|
|
|
NM_024675.4(PALB2):c.1915G>C (p.Glu639Gln)
|
rs1555460592
|
|
|
NM_024675.4(PALB2):c.1915G>T (p.Glu639Ter)
|
rs1555460592
|
|
|
NM_024675.4(PALB2):c.1916_1926del (p.Glu639fs)
|
|
|
|
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.1918T>G (p.Ser640Ala)
|
rs876659058
|
|
|
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter)
|
rs760094988
|
|
|
NM_024675.4(PALB2):c.1919C>G (p.Ser640Ter)
|
rs760094988
|
|
|
NM_024675.4(PALB2):c.1919C>T (p.Ser640Leu)
|
rs760094988
|
|
|
NM_024675.4(PALB2):c.191C>A (p.Ser64Ter)
|
|
|
|
NM_024675.4(PALB2):c.191C>T (p.Ser64Leu)
|
rs1567223942
|
|
|
NM_024675.4(PALB2):c.1920A>T (p.Ser640=)
|
rs375575311
|
|
|
NM_024675.4(PALB2):c.1924del (p.Met642fs)
|
rs730881865
|
|
|
NM_024675.4(PALB2):c.1924dup (p.Met642fs)
|
|
|
|
NM_024675.4(PALB2):c.1925T>C (p.Met642Thr)
|
rs876660387
|
|
|
NM_024675.4(PALB2):c.1926G>A (p.Met642Ile)
|
rs1597090741
|
|
|
NM_024675.4(PALB2):c.1926del (p.Met642fs)
|
|
|
|
NM_024675.4(PALB2):c.1928T>C (p.Phe643Ser)
|
rs1567218485
|
|
|
NM_024675.4(PALB2):c.1929T>A (p.Phe643Leu)
|
|
|
|
NM_024675.4(PALB2):c.1929T>C (p.Phe643=)
|
rs995715653
|
|
|
NM_024675.4(PALB2):c.192_193del (p.Pro65fs)
|
rs2142455866
|
|
|
NM_024675.4(PALB2):c.1931G>A (p.Gly644Glu)
|
rs875989794
|
|
|
NM_024675.4(PALB2):c.1932A>C (p.Gly644=)
|
rs1567218470
|
|
|
NM_024675.4(PALB2):c.1932A>T (p.Gly644=)
|
|
|
|
NM_024675.4(PALB2):c.1933del (p.Glu645fs)
|
|
|
|
NM_024675.4(PALB2):c.1937G>A (p.Arg646Lys)
|
rs1966863262
|
|
|
NM_024675.4(PALB2):c.1937G>C (p.Arg646Thr)
|
rs1966863262
|
|
|
NM_024675.4(PALB2):c.1937G>T (p.Arg646Ile)
|
rs1966863262
|
|
|
NM_024675.4(PALB2):c.1937_1938dup (p.His647fs)
|
rs1555460584
|
|
|
NM_024675.4(PALB2):c.1938A>C (p.Arg646Ser)
|
|
|
|
NM_024675.4(PALB2):c.1938A>G (p.Arg646=)
|
|
|
|
NM_024675.4(PALB2):c.1939C>G (p.His647Asp)
|
rs1555460583
|
|
|
NM_024675.4(PALB2):c.1939C>T (p.His647Tyr)
|
rs1555460583
|
|
|
NM_024675.4(PALB2):c.193C>G (p.Pro65Ala)
|
rs1229828972
|
|
|
NM_024675.4(PALB2):c.193C>T (p.Pro65Ser)
|
|
|
|
NM_024675.4(PALB2):c.1940A>G (p.His647Arg)
|
rs1055533509
|
|
|
NM_024675.4(PALB2):c.1940A>T (p.His647Leu)
|
rs1055533509
|
|
|
NM_024675.4(PALB2):c.1942C>T (p.Leu648Phe)
|
rs1966863129
|
|
|
NM_024675.4(PALB2):c.1942_1945delinsAAC (p.Leu648fs)
|
rs1966863076
|
|
|
NM_024675.4(PALB2):c.1942_1948delinsA (p.Leu648_Glu650delinsLys)
|
rs1555460577
|
|
|
NM_024675.4(PALB2):c.1944T>C (p.Leu648=)
|
rs200296117
|
|
|
NM_024675.4(PALB2):c.1945A>T (p.Lys649Ter)
|
rs1555460579
|
|
|
NM_024675.4(PALB2):c.1947_1966dup (p.Pro656fs)
|
rs1555460564
|
|
|
NM_024675.4(PALB2):c.1947del (p.Glu650fs)
|
|
|
|
NM_024675.4(PALB2):c.1947dup (p.Glu650fs)
|
rs515726075
|
|
|
NM_024675.4(PALB2):c.1948G>A (p.Glu650Lys)
|
rs1597090662
|
|
|
NM_024675.4(PALB2):c.1948G>C (p.Glu650Gln)
|
rs1597090662
|
|
|
NM_024675.4(PALB2):c.1948G>T (p.Glu650Ter)
|
|
|
|
NM_024675.4(PALB2):c.194C>G (p.Pro65Arg)
|
rs62625272
|
|
|
NM_024675.4(PALB2):c.1950G>A (p.Glu650=)
|
|
|
|
NM_024675.4(PALB2):c.1952G>A (p.Gly651Glu)
|
rs876660200
|
|
|
NM_024675.4(PALB2):c.1952_1955dup (p.Ser652fs)
|
|
|
|
NM_024675.4(PALB2):c.1953A>G (p.Gly651=)
|
rs1555460575
|
|
|
NM_024675.4(PALB2):c.1954_1956del (p.Ser652del)
|
|
|
|
NM_024675.4(PALB2):c.1958G>C (p.Cys653Ser)
|
rs771246748
|
|
|
NM_024675.4(PALB2):c.1958G>T (p.Cys653Phe)
|
rs771246748
|
|
|
NM_024675.4(PALB2):c.1958_1959insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGGGAAGCTG (p.Cys653fs)
|
rs2142385006
|
|
|
NM_024675.4(PALB2):c.1959_1966del (p.Ile654fs)
|
|
|
|
NM_024675.4(PALB2):c.1961T>C (p.Ile654Thr)
|
|
|
|
NM_024675.4(PALB2):c.1962T>C (p.Ile654=)
|
rs1555460568
|
|
|
NM_024675.4(PALB2):c.1965del (p.Pro656fs)
|
rs1597090596
|
|
|
NM_024675.4(PALB2):c.1965dup (p.Pro656fs)
|
rs1597090596
|
|
|
NM_024675.4(PALB2):c.1966C>G (p.Pro656Ala)
|
|
|
|
NM_024675.4(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656fs)
|
rs786204129
|
|
|
NM_024675.4(PALB2):c.1967C>T (p.Pro656Leu)
|
rs370360082
|
|
|
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.1968_1976delinsGG (p.Glu657fs)
|
|
|
|
NM_024675.4(PALB2):c.1969G>C (p.Glu657Gln)
|
rs2142384677
|
|
|
NM_024675.4(PALB2):c.1969_1981dup (p.Pro661fs)
|
rs1966862408
|
|
|
NM_024675.4(PALB2):c.1970A>G (p.Glu657Gly)
|
rs2142384653
|
|
|
NM_024675.4(PALB2):c.1971G>A (p.Glu657=)
|
rs1057522528
|
|
|
NM_024675.4(PALB2):c.1972G>A (p.Glu658Lys)
|
rs1555460542
|
|
|
NM_024675.4(PALB2):c.1972G>T (p.Glu658Ter)
|
rs1555460542
|
|
|
NM_024675.4(PALB2):c.1972del (p.Glu658fs)
|
rs1555460548
|
|
|
NM_024675.4(PALB2):c.1974A>C (p.Glu658Asp)
|
rs1057522241
|
|
|
NM_024675.4(PALB2):c.1974A>G (p.Glu658=)
|
rs1057522241
|
|
|
NM_024675.4(PALB2):c.1975C>A (p.Leu659Met)
|
|
|
|
NM_024675.4(PALB2):c.1976_1977del (p.Leu659fs)
|
rs2142384476
|
|
|
NM_024675.4(PALB2):c.1978A>G (p.Ser660Gly)
|
rs2142384431
|
|
|
NM_024675.4(PALB2):c.197A>G (p.Gln66Arg)
|
rs1967099408
|
|
|
NM_024675.4(PALB2):c.1982C>G (p.Pro661Arg)
|
rs71379822
|
|
|
NM_024675.4(PALB2):c.1983T>G (p.Pro661=)
|
|
|
|
NM_024675.4(PALB2):c.1984A>T (p.Lys662Ter)
|
rs1555460533
|
|
|
NM_024675.4(PALB2):c.1988G>A (p.Arg663His)
|
rs1462734899
|
|
|
NM_024675.4(PALB2):c.1988G>T (p.Arg663Leu)
|
rs1462734899
|
|
|
NM_024675.4(PALB2):c.1988dup (p.Met664fs)
|
rs1966862297
|
|
|
NM_024675.4(PALB2):c.1989C>T (p.Arg663=)
|
rs1057522230
|
|
|
NM_024675.4(PALB2):c.1990_1991insGTTC (p.Met664fs)
|
rs2142384044
|
|
|
NM_024675.4(PALB2):c.1990del (p.Met664fs)
|
rs1966862226
|
|
|
NM_024675.4(PALB2):c.1991T>C (p.Met664Thr)
|
rs945657254
|
|
|
NM_024675.4(PALB2):c.1991T>G (p.Met664Arg)
|
rs945657254
|
|
|
NM_024675.4(PALB2):c.1992G>A (p.Met664Ile)
|
|
|
|
NM_024675.4(PALB2):c.1993G>A (p.Asp665Asn)
|
|
|
|
NM_024675.4(PALB2):c.1994A>G (p.Asp665Gly)
|
|
|
|
NM_024675.4(PALB2):c.1994A>T (p.Asp665Val)
|
rs1555460531
|
|
|
NM_024675.4(PALB2):c.1997C>T (p.Thr666Ile)
|
rs1567218311
|
|
|
NM_024675.4(PALB2):c.1998A>G (p.Thr666=)
|
|
|
|
NM_024675.4(PALB2):c.1999_2001dup (p.Glu667dup)
|
rs1555460530
|
|
|
NM_024675.4(PALB2):c.199del (p.Gln66_Leu67insTer)
|
|
|
|
NM_024675.4(PALB2):c.1A>G (p.Met1Val)
|
rs879254144
|
|
|
NM_024675.4(PALB2):c.2001A>T (p.Glu667Asp)
|
rs1421924676
|
|
|
NM_024675.4(PALB2):c.2002A>G (p.Met668Val)
|
|
|
|
NM_024675.4(PALB2):c.2004G>T (p.Met668Ile)
|
rs2142383719
|
|
|
NM_024675.4(PALB2):c.2005del (p.Glu669fs)
|
|
|
|
NM_024675.4(PALB2):c.2006A>G (p.Glu669Gly)
|
rs1567218281
|
|
|
NM_024675.4(PALB2):c.2006del (p.Glu669fs)
|
rs587778584
|
|
|
NM_024675.4(PALB2):c.200T>C (p.Leu67Pro)
|
rs2142455603
|
|
|
NM_024675.4(PALB2):c.2010C>G (p.Asp670Glu)
|
|
|
|
NM_024675.4(PALB2):c.2012T>C (p.Leu671Ser)
|
|
|
|
NM_024675.4(PALB2):c.2013A>C (p.Leu671Phe)
|
rs2142383518
|
|
|
NM_024675.4(PALB2):c.2014G>A (p.Glu672Lys)
|
rs45532440
|
|
|
NM_024675.4(PALB2):c.2014G>T (p.Glu672Ter)
|
rs45532440
|
|
|
NM_024675.4(PALB2):c.2014del (p.Glu672fs)
|
rs1966861952
|
|
|
NM_024675.4(PALB2):c.2016_2017insT (p.Glu673Ter)
|
rs1966861886
|
|
|
NM_024675.4(PALB2):c.2016dup (p.Glu673fs)
|
rs1966861906
|
|
|
NM_024675.4(PALB2):c.2017G>A (p.Glu673Lys)
|
rs1236182341
|
|
|
NM_024675.4(PALB2):c.2019G>A (p.Glu673=)
|
|
|
|
NM_024675.4(PALB2):c.201A>G (p.Leu67=)
|
rs1057520340
|
|
|
NM_024675.4(PALB2):c.201_204dup (p.His69fs)
|
|
|
|
NM_024675.4(PALB2):c.2020_2021del (p.Asp674fs)
|
rs2142383242
|
|
|
NM_024675.4(PALB2):c.2020del (p.Asp674fs)
|
rs1966861838
|
|
|
NM_024675.4(PALB2):c.2021A>C (p.Asp674Ala)
|
rs1064793726
|
|
|
NM_024675.4(PALB2):c.2021A>T (p.Asp674Val)
|
rs1064793726
|
|
|
NM_024675.4(PALB2):c.2022C>A (p.Asp674Glu)
|
|
|
|
NM_024675.4(PALB2):c.2025T>A (p.Leu675=)
|
rs1597090426
|
|
|
NM_024675.4(PALB2):c.2026dup (p.Ile676fs)
|
rs2142383088
|
|
|
NM_024675.4(PALB2):c.2028T>C (p.Ile676=)
|
rs763937788
|
|
|
NM_024675.4(PALB2):c.2031T>C (p.Val677=)
|
rs864622756
|
|
|
NM_024675.4(PALB2):c.2032del (p.Leu678fs)
|
rs730881866
|
|
|
NM_024675.4(PALB2):c.2034A>T (p.Leu678=)
|
rs373796987
|
|
|
NM_024675.4(PALB2):c.2036del (p.Pro679fs)
|
rs2142382796
|
|
|
NM_024675.4(PALB2):c.2038G>A (p.Gly680Arg)
|
rs1223755856
|
|
|
NM_024675.4(PALB2):c.2038G>T (p.Gly680Ter)
|
|
|
|
NM_024675.4(PALB2):c.2039G>A (p.Gly680Glu)
|
rs759218890
|
|
|
NM_024675.4(PALB2):c.2040A>C (p.Gly680=)
|
rs1597090358
|
|
|
NM_024675.4(PALB2):c.2041A>C (p.Lys681Gln)
|
|
|
|
NM_024675.4(PALB2):c.2041A>G (p.Lys681Glu)
|
rs2142382651
|
|
|
NM_024675.4(PALB2):c.2041A>T (p.Lys681Ter)
|
rs2142382651
|
|
|
NM_024675.4(PALB2):c.2042A>C (p.Lys681Thr)
|
rs1555460514
|
|
|
NM_024675.4(PALB2):c.2042A>G (p.Lys681Arg)
|
|
|
|
NM_024675.4(PALB2):c.2043A>G (p.Lys681=)
|
rs1057524569
|
|
|
NM_024675.4(PALB2):c.2043del (p.Lys681fs)
|
|
|
|
NM_024675.4(PALB2):c.2043dup (p.Ser682fs)
|
|
|
|
NM_024675.4(PALB2):c.2046A>G (p.Ser682=)
|
rs1442566697
|
|
|
NM_024675.4(PALB2):c.204A>G (p.Lys68=)
|
|
|
|
NM_024675.4(PALB2):c.204del (p.Lys68fs)
|
rs1555462031
|
|
|
NM_024675.4(PALB2):c.2050C>T (p.Pro684Ser)
|
|
|
|
NM_024675.4(PALB2):c.2051C>G (p.Pro684Arg)
|
rs2142382405
|
|
|
NM_024675.4(PALB2):c.2052C>T (p.Pro684=)
|
rs2142382363
|
|
|
NM_024675.4(PALB2):c.2052del (p.Arg686fs)
|
rs587782680
|
|
|
NM_024675.4(PALB2):c.2053A>C (p.Lys685Gln)
|
rs876660397
|
|
|
NM_024675.4(PALB2):c.2053A>G (p.Lys685Glu)
|
rs876660397
|
|
|
NM_024675.4(PALB2):c.2054A>G (p.Lys685Arg)
|
rs1597090309
|
|
|
NM_024675.4(PALB2):c.2055A>C (p.Lys685Asn)
|
|
|
|
NM_024675.4(PALB2):c.2055A>G (p.Lys685=)
|
rs1597090304
|
|
|
NM_024675.4(PALB2):c.2056del (p.Arg686fs)
|
rs1060502771
|
|
|
NM_024675.4(PALB2):c.2058G>T (p.Arg686Ser)
|
rs771376636
|
|
|
NM_024675.4(PALB2):c.205C>T (p.His69Tyr)
|
rs879253891
|
|
|
NM_024675.4(PALB2):c.2060C>G (p.Pro687Arg)
|
|
|
|
NM_024675.4(PALB2):c.2064C>T (p.Asn688=)
|
rs2142382120
|
|
|
NM_024675.4(PALB2):c.2065T>G (p.Ser689Ala)
|
rs2142382088
|
|
|
NM_024675.4(PALB2):c.2066C>A (p.Ser689Ter)
|
rs749602688
|
|
|
NM_024675.4(PALB2):c.2066C>T (p.Ser689Leu)
|
rs749602688
|
|
|
NM_024675.4(PALB2):c.2067G>T (p.Ser689=)
|
rs371149159
|
|
|
NM_024675.4(PALB2):c.2067_2068delinsTT (p.Gln690Ter)
|
rs2142382015
|
|
|
NM_024675.4(PALB2):c.2068C>G (p.Gln690Glu)
|
rs1555460505
|
|
|
NM_024675.4(PALB2):c.2068C>T (p.Gln690Ter)
|
|
|
|
NM_024675.4(PALB2):c.206A>G (p.His69Arg)
|
rs749443090
|
|
|
NM_024675.4(PALB2):c.2071A>G (p.Ser691Gly)
|
rs1555460504
|
|
|
NM_024675.4(PALB2):c.2072G>A (p.Ser691Asn)
|
rs1555460502
|
|
|
NM_024675.4(PALB2):c.2072del (p.Ser691fs)
|
|
|
|
NM_024675.4(PALB2):c.2073C>G (p.Ser691Arg)
|
rs1567218173
|
|
|
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)
|
rs587776415
|
|
|
NM_024675.4(PALB2):c.2075A>C (p.Gln692Pro)
|
|
|
|
NM_024675.4(PALB2):c.2075A>G (p.Gln692Arg)
|
rs1555460499
|
|
|
NM_024675.4(PALB2):c.2076G>A (p.Gln692=)
|
rs876660531
|
|
|
NM_024675.4(PALB2):c.2078A>G (p.His693Arg)
|
rs587780208
|
|
|
NM_024675.4(PALB2):c.2078A>T (p.His693Leu)
|
rs587780208
|
|
|
NM_024675.4(PALB2):c.2079del (p.His693fs)
|
rs878855105
|
|
|
NM_024675.4(PALB2):c.207C>A (p.His69Gln)
|
rs1567223897
|
|
|
NM_024675.4(PALB2):c.2080A>G (p.Thr694Ala)
|
rs1567218150
|
|
|
NM_024675.4(PALB2):c.2081C>A (p.Thr694Lys)
|
rs1439027692
|
|
|
NM_024675.4(PALB2):c.2081C>G (p.Thr694Arg)
|
rs1439027692
|
|
|
NM_024675.4(PALB2):c.2083A>G (p.Lys695Glu)
|
rs1567218141
|
|
|
NM_024675.4(PALB2):c.2083A>T (p.Lys695Ter)
|
rs1567218141
|
|
|
NM_024675.4(PALB2):c.2084A>G (p.Lys695Arg)
|
|
|
|
NM_024675.4(PALB2):c.2086A>G (p.Thr696Ala)
|
rs1195275297
|
|
|
NM_024675.4(PALB2):c.2087C>A (p.Thr696Lys)
|
rs587780820
|
|
|
NM_024675.4(PALB2):c.2088G>C (p.Thr696=)
|
|
|
|
NM_024675.4(PALB2):c.2089G>A (p.Gly697Ser)
|
rs1567218116
|
|
|
NM_024675.4(PALB2):c.208T>C (p.Ser70Pro)
|
rs730881900
|
|
|
NM_024675.4(PALB2):c.2090G>A (p.Gly697Asp)
|
|
|
|
NM_024675.4(PALB2):c.2091C>A (p.Gly697=)
|
rs875989797
|
|
|
NM_024675.4(PALB2):c.2091C>G (p.Gly697=)
|
rs875989797
|
|
|
NM_024675.4(PALB2):c.2091C>T (p.Gly697=)
|
rs875989797
|
|
|
NM_024675.4(PALB2):c.2092del (p.Leu698fs)
|
rs1060499819
|
|
|
NM_024675.4(PALB2):c.2093T>C (p.Leu698Pro)
|
rs1966860685
|
|
|
NM_024675.4(PALB2):c.2095T>A (p.Ser699Thr)
|
rs1555460493
|
|
|
NM_024675.4(PALB2):c.2095dup (p.Ser699fs)
|
|
|
|
NM_024675.4(PALB2):c.2096C>T (p.Ser699Phe)
|
rs780397699
|
|
|
NM_024675.4(PALB2):c.2098T>C (p.Ser700Pro)
|
|
|
|
NM_024675.4(PALB2):c.209C>G (p.Ser70Ter)
|
rs763745734
|
|
|
NM_024675.4(PALB2):c.20A>T (p.Lys7Met)
|
rs947155109
|
|
|
NM_024675.4(PALB2):c.20dup (p.Pro8fs)
|
|
|
|
NM_024675.4(PALB2):c.2100A>C (p.Ser700=)
|
|
|
|
NM_024675.4(PALB2):c.2100A>G (p.Ser700=)
|
rs757145884
|
|
|
NM_024675.4(PALB2):c.2100_2110del (p.Ser701fs)
|
rs1555460490
|
|
|
NM_024675.4(PALB2):c.2101T>C (p.Ser701Pro)
|
rs1966860532
|
|
|
NM_024675.4(PALB2):c.2102C>G (p.Ser701Cys)
|
rs1429929576
|
|
|
NM_024675.4(PALB2):c.2104A>G (p.Ile702Val)
|
rs587781888
|
|
|
NM_024675.4(PALB2):c.2104_2107delinsTAA (p.Ile702_Leu703delinsTer)
|
|
|
|
NM_024675.4(PALB2):c.2105T>A (p.Ile702Lys)
|
|
|
|
NM_024675.4(PALB2):c.2105dup (p.Leu703fs)
|
rs2142381049
|
|
|
NM_024675.4(PALB2):c.2108T>C (p.Leu703Ser)
|
|
|
|
NM_024675.4(PALB2):c.2109A>C (p.Leu703Phe)
|
rs1966860376
|
|
|
NM_024675.4(PALB2):c.2109_2112del (p.Leu703fs)
|
rs2142380816
|
|
|
NM_024675.4(PALB2):c.210A>G (p.Ser70=)
|
rs786202650
|
|
|
NM_024675.4(PALB2):c.211+10G>A
|
rs1555462023
|
|
|
NM_024675.4(PALB2):c.211+10G>T
|
rs1555462023
|
|
|
NM_024675.4(PALB2):c.211+12C>T
|
|
|
|
NM_024675.4(PALB2):c.211+13C>T
|
|
|
|
NM_024675.4(PALB2):c.211+15T>C
|
|
|
|
NM_024675.4(PALB2):c.211+17C>T
|
rs1567223868
|
|
|
NM_024675.4(PALB2):c.211+18A>G
|
|
|
|
NM_024675.4(PALB2):c.211+19C>T
|
rs1555462022
|
|
|
NM_024675.4(PALB2):c.211+1G>A
|
rs1555462026
|
|
|
NM_024675.4(PALB2):c.211+1G>T
|
rs1555462026
|
|
|
NM_024675.4(PALB2):c.211+272C>T
|
|
|
|
NM_024675.4(PALB2):c.211+2T>C
|
rs1967098495
|
|
|
NM_024675.4(PALB2):c.211+3A>G
|
rs1324112672
|
|
|
NM_024675.4(PALB2):c.211+5del
|
rs752833998
|
|
|
NM_024675.4(PALB2):c.211+6T>A
|
rs1555462024
|
|
|
NM_024675.4(PALB2):c.211+7C>A
|
rs2142455258
|
|
|
NM_024675.4(PALB2):c.211+7C>G
|
|
|
|
NM_024675.4(PALB2):c.211+9A>G
|
rs1597101242
|
|
|
NM_024675.4(PALB2):c.2111T>G (p.Leu704Arg)
|
rs1555460489
|
|
|
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.2117_2129del (p.Thr706fs)
|
rs1597090031
|
|
|
NM_024675.4(PALB2):c.2119C>T (p.Pro707Ser)
|
rs2142380644
|
|
|
NM_024675.4(PALB2):c.211G>A (p.Glu71Lys)
|
|
|
|
NM_024675.4(PALB2):c.212-10del
|
rs766487430
|
|
|
NM_024675.4(PALB2):c.212-16dup
|
rs766487430
|
|
|
NM_024675.4(PALB2):c.212-17A>T
|
rs1322250562
|
|
|
NM_024675.4(PALB2):c.212-180T>G
|
rs515726076
|
|
|
NM_024675.4(PALB2):c.212-18C>T
|
rs1555461886
|
|
|
NM_024675.4(PALB2):c.212-19A>G
|
|
|
|
NM_024675.4(PALB2):c.212-1G>A
|
rs1597099910
|
|
|
NM_024675.4(PALB2):c.212-1G>T
|
rs1597099910
|
|
|
NM_024675.4(PALB2):c.212-24TA[4]
|
rs751741705
|
|
|
NM_024675.4(PALB2):c.212-25T>A
|
rs515726077
|
|
|
NM_024675.4(PALB2):c.212-25_212-24insTA
|
rs515726078
|
|
|
NM_024675.4(PALB2):c.212-2A>C
|
rs730881879
|
|
|
NM_024675.4(PALB2):c.212-2A>T
|
rs730881879
|
|
|
NM_024675.4(PALB2):c.212-3C>T
|
rs878855106
|
|
|
NM_024675.4(PALB2):c.212-50dup
|
rs759760268
|
|
|
NM_024675.4(PALB2):c.212-8C>T
|
rs1387711045
|
|
|
NM_024675.4(PALB2):c.212-8del
|
|
|
|
NM_024675.4(PALB2):c.212-9C>T
|
rs1555461884
|
|
|
NM_024675.4(PALB2):c.2120C>T (p.Pro707Leu)
|
rs1363384297
|
|
|
NM_024675.4(PALB2):c.2120del (p.Pro707fs)
|
rs587780210
|
|
|
NM_024675.4(PALB2):c.2123T>A (p.Leu708Ter)
|
rs1597090059
|
|
|
NM_024675.4(PALB2):c.2124A>T (p.Leu708Phe)
|
rs1597090058
|
|
|
NM_024675.4(PALB2):c.2127T>C (p.Asn709=)
|
rs1597090047
|
|
|
NM_024675.4(PALB2):c.2128dup (p.Thr710fs)
|
|
|
|
NM_024675.4(PALB2):c.212A>G (p.Glu71Gly)
|
rs1555461877
|
|
|
NM_024675.4(PALB2):c.2130G>A (p.Thr710=)
|
rs774049060
|
|
|
NM_024675.4(PALB2):c.2130G>T (p.Thr710=)
|
|
|
|
NM_024675.4(PALB2):c.2131G>A (p.Val711Ile)
|
rs1555460478
|
|
|
NM_024675.4(PALB2):c.2131G>T (p.Val711Phe)
|
rs1555460478
|
|
|
NM_024675.4(PALB2):c.2133T>G (p.Val711=)
|
rs2142380275
|
|
|
NM_024675.4(PALB2):c.2133del (p.Ala712fs)
|
|
|
|
NM_024675.4(PALB2):c.2137C>T (p.Pro713Ser)
|
rs1555460475
|
|
|
NM_024675.4(PALB2):c.2139_2178del (p.Asp714fs)
|
|
|
|
NM_024675.4(PALB2):c.213A>G (p.Glu71=)
|
rs1967062173
|
|
|
NM_024675.4(PALB2):c.2140GAT[1] (p.Asp715del)
|
rs1597089965
|
|
|
NM_024675.4(PALB2):c.2143G>A (p.Asp715Asn)
|
rs2142379989
|
|
|
NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs)
|
rs515726081
|
|
|
NM_024675.4(PALB2):c.2146A>G (p.Asn716Asp)
|
rs2142379886
|
|
|
NM_024675.4(PALB2):c.2147A>G (p.Asn716Ser)
|
rs148335539
|
|
|
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.2148_2150dup (p.Asp717dup)
|
rs2142379788
|
|
|
NM_024675.4(PALB2):c.2149G>A (p.Asp717Asn)
|
rs748692809
|
|
|
NM_024675.4(PALB2):c.214C>T (p.Pro72Ser)
|
rs2142448436
|
|
|
NM_024675.4(PALB2):c.2150A>G (p.Asp717Gly)
|
rs1555460469
|
|
|
NM_024675.4(PALB2):c.2150A>T (p.Asp717Val)
|
rs1555460469
|
|
|
NM_024675.4(PALB2):c.2152A>G (p.Arg718Gly)
|
|
|
|
NM_024675.4(PALB2):c.2154del (p.Arg718fs)
|
rs730881867
|
|
|
NM_024675.4(PALB2):c.2155C>G (p.Pro719Ala)
|
rs2142379642
|
|
|
NM_024675.4(PALB2):c.2155C>T (p.Pro719Ser)
|
rs2142379642
|
|
|
NM_024675.4(PALB2):c.2156del (p.Pro719fs)
|
rs876660193
|
|
|
NM_024675.4(PALB2):c.2157T>A (p.Pro719=)
|
|
|
|
NM_024675.4(PALB2):c.215C>G (p.Pro72Arg)
|
rs1967062090
|
|
|
NM_024675.4(PALB2):c.2160C>G (p.Thr720=)
|
rs1430544638
|
|
|
NM_024675.4(PALB2):c.2160_2161insG (p.Thr721fs)
|
rs1555460465
|
|
|
NM_024675.4(PALB2):c.2161_2186dup (p.Ile730fs)
|
|
|
|
NM_024675.4(PALB2):c.2161del (p.Thr721fs)
|
rs1597089904
|
|
|
NM_024675.4(PALB2):c.2163A>G (p.Thr721=)
|
|
|
|
NM_024675.4(PALB2):c.2164G>C (p.Asp722His)
|
|
|
|
NM_024675.4(PALB2):c.2164_2165delinsAT (p.Asp722Ile)
|
rs2142379399
|
|
|
NM_024675.4(PALB2):c.2166C>T (p.Asp722=)
|
|
|
|
NM_024675.4(PALB2):c.2167A>G (p.Met723Val)
|
rs876660336
|
|
|
NM_024675.4(PALB2):c.2170T>C (p.Cys724Arg)
|
rs1597089875
|
|
|
NM_024675.4(PALB2):c.2170T>G (p.Cys724Gly)
|
rs1597089875
|
|
|
NM_024675.4(PALB2):c.2173T>C (p.Ser725Pro)
|
rs2142379132
|
|
|
NM_024675.4(PALB2):c.2174C>G (p.Ser725Ter)
|
|
|
|
NM_024675.4(PALB2):c.2175A>T (p.Ser725=)
|
|
|
|
NM_024675.4(PALB2):c.2176C>T (p.Pro726Ser)
|
rs566813395
|
|
|
NM_024675.4(PALB2):c.2177C>T (p.Pro726Leu)
|
rs1555460461
|
|
|
NM_024675.4(PALB2):c.2177dup (p.Ala727fs)
|
|
|
|
NM_024675.4(PALB2):c.2178T>C (p.Pro726=)
|
rs863224429
|
|
|
NM_024675.4(PALB2):c.2180C>T (p.Ala727Val)
|
|
|
|
NM_024675.4(PALB2):c.2181T>A (p.Ala727=)
|
|
|
|
NM_024675.4(PALB2):c.2181T>C (p.Ala727=)
|
rs1555460458
|
|
|
NM_024675.4(PALB2):c.2181T>G (p.Ala727=)
|
rs1555460458
|
|
|
NM_024675.4(PALB2):c.2183del (p.Phe728fs)
|
|
|
|
NM_024675.4(PALB2):c.2185_2186insA (p.Pro729fs)
|
rs1597089845
|
|
|
NM_024675.4(PALB2):c.2186_2187del (p.Pro729fs)
|
rs1567217908
|
|
|
NM_024675.4(PALB2):c.2187C>T (p.Pro729=)
|
rs1597089834
|
|
|
NM_024675.4(PALB2):c.2187del (p.Ile730fs)
|
rs1567217908
|
|
|
NM_024675.4(PALB2):c.2188A>G (p.Ile730Val)
|
rs1060502735
|
|
|
NM_024675.4(PALB2):c.2189T>C (p.Ile730Thr)
|
rs2142378728
|
|
|
NM_024675.4(PALB2):c.218A>G (p.Lys73Arg)
|
rs2142448330
|
|
|
NM_024675.4(PALB2):c.2190del (p.Ile730_Leu731insTer)
|
|
|
|
NM_024675.4(PALB2):c.2191T>C (p.Leu731=)
|
rs2142378686
|
|
|
NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)
|
rs1567217898
|
|
|
NM_024675.4(PALB2):c.2194_2200del (p.Gly732fs)
|
rs1555460457
|
|
|
NM_024675.4(PALB2):c.2197ACT[1] (p.Thr734del)
|
rs781693946
|
|
|
NM_024675.4(PALB2):c.219A>C (p.Lys73Asn)
|
|
|
|
NM_024675.4(PALB2):c.21G>C (p.Lys7Asn)
|
rs1424944402
|
|
|
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.2203C>A (p.Pro735Thr)
|
rs1597089790
|
|
|
NM_024675.4(PALB2):c.2205A>G (p.Pro735=)
|
rs515726082
|
|
|
NM_024675.4(PALB2):c.2205del (p.Ala736fs)
|
rs587782892
|
|
|
NM_024675.4(PALB2):c.2205dup (p.Ala736fs)
|
|
|
|
NM_024675.4(PALB2):c.2207C>G (p.Ala736Gly)
|
rs746056001
|
|
|
NM_024675.4(PALB2):c.2208C>T (p.Ala736=)
|
rs369113809
|
|
|
NM_024675.4(PALB2):c.220A>G (p.Asn74Asp)
|
|
|
|
NM_024675.4(PALB2):c.2210T>G (p.Phe737Cys)
|
rs1597089763
|
|
|
NM_024675.4(PALB2):c.2213G>A (p.Gly738Asp)
|
rs1555460450
|
|
|
NM_024675.4(PALB2):c.2214C>A (p.Gly738=)
|
|
|
|
NM_024675.4(PALB2):c.2214C>T (p.Gly738=)
|
rs1555460448
|
|
|
NM_024675.4(PALB2):c.2215C>T (p.Pro739Ser)
|
rs2142378149
|
|
|
NM_024675.4(PALB2):c.2216C>T (p.Pro739Leu)
|
rs1966858909
|
|
|
NM_024675.4(PALB2):c.2217T>A (p.Pro739=)
|
|
|
|
NM_024675.4(PALB2):c.2217T>C (p.Pro739=)
|
rs876660727
|
|
|
NM_024675.4(PALB2):c.2218C>G (p.Gln740Glu)
|
rs1555460445
|
|
|
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)
|
rs1555460445
|
|
|
NM_024675.4(PALB2):c.2219_2220del (p.Gln740fs)
|
rs1555460442
|
|
|
NM_024675.4(PALB2):c.2220A>C (p.Gln740His)
|
rs1057523562
|
|
|
NM_024675.4(PALB2):c.2220del (p.Gly741fs)
|
rs1597089741
|
|
|
NM_024675.4(PALB2):c.2221G>A (p.Gly741Ser)
|
rs1555460440
|
|
|
NM_024675.4(PALB2):c.2222G>A (p.Gly741Asp)
|
|
|
|
NM_024675.4(PALB2):c.2222G>T (p.Gly741Val)
|
rs755907224
|
|
|
NM_024675.4(PALB2):c.2222del (p.Gly741fs)
|
rs2142377985
|
|
|
NM_024675.4(PALB2):c.2223_2224delinsG
|
rs1567217830
|
|
|
NM_024675.4(PALB2):c.2224T>C (p.Ser742Pro)
|
|
|
|
NM_024675.4(PALB2):c.2225C>T (p.Ser742Phe)
|
rs1555460437
|
|
|
NM_024675.4(PALB2):c.2228A>T (p.Tyr743Phe)
|
rs141749524
|
|
|
NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter)
|
rs730881888
|
|
|
NM_024675.4(PALB2):c.2230G>A (p.Glu744Lys)
|
rs62625278
|
|
|
NM_024675.4(PALB2):c.2231A>G (p.Glu744Gly)
|
rs1060502779
|
|
|
NM_024675.4(PALB2):c.2232A>G (p.Glu744=)
|
rs1047622969
|
|
|
NM_024675.4(PALB2):c.2233A>G (p.Lys745Glu)
|
rs587782064
|
|
|
NM_024675.4(PALB2):c.2235del (p.Ala746fs)
|
rs1966858562
|
|
|
NM_024675.4(PALB2):c.2236G>A (p.Ala746Thr)
|
rs1555460433
|
|
|
NM_024675.4(PALB2):c.2238A>G (p.Ala746=)
|
rs1597089677
|
|
|
NM_024675.4(PALB2):c.2239T>C (p.Ser747Pro)
|
rs1189203530
|
|
|
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)
|
rs1555461875
|
|
|
NM_024675.4(PALB2):c.2240C>G (p.Ser747Cys)
|
rs1373451258
|
|
|
NM_024675.4(PALB2):c.2244_2247dup (p.Val750fs)
|
|
|
|
NM_024675.4(PALB2):c.2245G>A (p.Glu749Lys)
|
|
|
|
NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter)
|
rs1555460431
|
|
|
NM_024675.4(PALB2):c.2246A>G (p.Glu749Gly)
|
|
|
|
NM_024675.4(PALB2):c.2249T>C (p.Val750Ala)
|
rs1555460430
|
|
|
NM_024675.4(PALB2):c.224_228del (p.Lys75fs)
|
rs1064795640
|
|
|
NM_024675.4(PALB2):c.2254G>A (p.Gly752Arg)
|
rs1966858306
|
|
|
NM_024675.4(PALB2):c.2255_2267dup (p.Cys756fs)
|
rs1555460423
|
|
|
NM_024675.4(PALB2):c.2255del (p.Gly752fs)
|
rs2142377240
|
|
|
NM_024675.4(PALB2):c.225A>C (p.Lys75Asn)
|
rs1250453452
|
|
|
NM_024675.4(PALB2):c.225A>T (p.Lys75Asn)
|
rs1250453452
|
|
|
NM_024675.4(PALB2):c.2261C>T (p.Thr754Ile)
|
|
|
|
NM_024675.4(PALB2):c.2261del (p.Thr754fs)
|
|
|
|
NM_024675.4(PALB2):c.2262T>G (p.Thr754=)
|
|
|
|
NM_024675.4(PALB2):c.2263T>C (p.Cys755Arg)
|
rs1060502794
|
|
|
NM_024675.4(PALB2):c.2263_2266dup (p.Cys756fs)
|
|
|
|
NM_024675.4(PALB2):c.2266T>C (p.Cys756Arg)
|
rs1064795052
|
|
|
NM_024675.4(PALB2):c.2267G>A (p.Cys756Tyr)
|
rs925044785
|
|
|
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs)
|
rs755471995
|
|
|
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.2272C>A (p.Pro758Thr)
|
rs1064794078
|
|
|
NM_024675.4(PALB2):c.2272delinsGA (p.Pro758fs)
|
|
|
|
NM_024675.4(PALB2):c.2273C>G (p.Pro758Arg)
|
rs746117401
|
|
|
NM_024675.4(PALB2):c.2273C>T (p.Pro758Leu)
|
rs746117401
|
|
|
NM_024675.4(PALB2):c.2275C>A (p.Gln759Lys)
|
rs515726083
|
|
|
NM_024675.4(PALB2):c.2275C>T (p.Gln759Ter)
|
rs515726083
|
|
|
NM_024675.4(PALB2):c.2276A>T (p.Gln759Leu)
|
rs1555460421
|
|
|
NM_024675.4(PALB2):c.2277A>C (p.Gln759His)
|
rs786202524
|
|
|
NM_024675.4(PALB2):c.2277A>T (p.Gln759His)
|
|
|
|
NM_024675.4(PALB2):c.2278C>T (p.Leu760Phe)
|
rs769634658
|
|
|
NM_024675.4(PALB2):c.2278del (p.Ala761fs)
|
|
|
|
NM_024675.4(PALB2):c.227T>C (p.Ile76Thr)
|
rs1967061407
|
|
|
NM_024675.4(PALB2):c.2280T>G (p.Leu760=)
|
rs2142376591
|
|
|
NM_024675.4(PALB2):c.2281G>A (p.Ala761Thr)
|
|
|
|
NM_024675.4(PALB2):c.2281_2287del (p.Leu760_Ala761insTer)
|
|
|
|
NM_024675.4(PALB2):c.2282C>A (p.Ala761Asp)
|
rs878855108
|
|
|
NM_024675.4(PALB2):c.2282C>T (p.Ala761Val)
|
rs878855108
|
|
|
NM_024675.4(PALB2):c.2284C>T (p.His762Tyr)
|
|
|
|
NM_024675.4(PALB2):c.2285A>G (p.His762Arg)
|
rs1238274171
|
|
|
NM_024675.4(PALB2):c.2287T>A (p.Leu763Met)
|
|
|
|
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)
|
rs876659571
|
|
|
NM_024675.4(PALB2):c.228A>G (p.Ile76Met)
|
rs1555461872
|
|
|
NM_024675.4(PALB2):c.228_229del (p.Ile76fs)
|
rs1555461870
|
|
|
NM_024675.4(PALB2):c.2292dup (p.Asp765fs)
|
|
|
|
NM_024675.4(PALB2):c.2295C>T (p.Asp765=)
|
rs2142376232
|
|
|
NM_024675.4(PALB2):c.2295del (p.Ser766fs)
|
rs1597089469
|
|
|
NM_024675.4(PALB2):c.2296T>C (p.Ser766Pro)
|
rs1597089461
|
|
|
NM_024675.4(PALB2):c.2296_2297del (p.Val767fs)
|
rs876658170
|
|
|
NM_024675.4(PALB2):c.2297C>A (p.Ser766Ter)
|
|
|
|
NM_024675.4(PALB2):c.2297C>G (p.Ser766Ter)
|
|
|
|
NM_024675.4(PALB2):c.2297del (p.Asp765_Ser766insTer)
|
|
|
|
NM_024675.4(PALB2):c.2298A>G (p.Ser766=)
|
rs754921518
|
|
|
NM_024675.4(PALB2):c.2298_2301del (p.Cys768fs)
|
rs1597089434
|
|
|
NM_024675.4(PALB2):c.2298dup (p.Val767fs)
|
rs1555460407
|
|
|
NM_024675.4(PALB2):c.2299G>A (p.Val767Ile)
|
rs1312270645
|
|
|
NM_024675.4(PALB2):c.2299G>C (p.Val767Leu)
|
rs1312270645
|
|
|
NM_024675.4(PALB2):c.229T>G (p.Cys77Gly)
|
rs760045493
|
|
|
NM_024675.4(PALB2):c.22C>A (p.Pro8Thr)
|
rs876660586
|
|
|
NM_024675.4(PALB2):c.22C>T (p.Pro8Ser)
|
rs876660586
|
|
|
NM_024675.4(PALB2):c.2301C>A (p.Val767=)
|
rs515726084
|
|
|
NM_024675.4(PALB2):c.2302T>C (p.Cys768Arg)
|
rs1597089419
|
|
|
NM_024675.4(PALB2):c.2303G>A (p.Cys768Tyr)
|
rs1060502770
|
|
|
NM_024675.4(PALB2):c.2303G>C (p.Cys768Ser)
|
rs1060502770
|
|
|
NM_024675.4(PALB2):c.2304T>C (p.Cys768=)
|
rs1966857656
|
|
|
NM_024675.4(PALB2):c.2305_2334del (p.Leu769_Ser778del)
|
rs1555460399
|
|
|
NM_024675.4(PALB2):c.2305del (p.Ala770fs)
|
|
|
|
NM_024675.4(PALB2):c.2309C>T (p.Ala770Val)
|
rs2142375912
|
|
|
NM_024675.4(PALB2):c.230G>A (p.Cys77Tyr)
|
rs1597099850
|
|
|
NM_024675.4(PALB2):c.230G>T (p.Cys77Phe)
|
|
|
|
NM_024675.4(PALB2):c.2310del (p.Ser771fs)
|
|
|
|
NM_024675.4(PALB2):c.2314G>A (p.Asp772Asn)
|
rs1597089401
|
|
|
NM_024675.4(PALB2):c.2316T>G (p.Asp772Glu)
|
rs1555460406
|
|
|
NM_024675.4(PALB2):c.2317A>G (p.Thr773Ala)
|
rs1567217632
|
|
|
NM_024675.4(PALB2):c.2317A>T (p.Thr773Ser)
|
rs1567217632
|
|
|
NM_024675.4(PALB2):c.2317del (p.Thr773fs)
|
|
|
|
NM_024675.4(PALB2):c.2317dup (p.Thr773fs)
|
|
|
|
NM_024675.4(PALB2):c.2319T>G (p.Thr773=)
|
rs562168734
|
|
|
NM_024675.4(PALB2):c.2320A>C (p.Lys774Gln)
|
rs757892044
|
|
|
NM_024675.4(PALB2):c.2320A>G (p.Lys774Glu)
|
rs757892044
|
|
|
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)
|
rs180177111
|
|
|
NM_024675.4(PALB2):c.2325A>C (p.Gln775His)
|
rs750089867
|
|
|
NM_024675.4(PALB2):c.2325A>G (p.Gln775=)
|
rs750089867
|
|
|
NM_024675.4(PALB2):c.2325A>T (p.Gln775His)
|
rs750089867
|
|
|
NM_024675.4(PALB2):c.2325dup (p.Phe776fs)
|
rs876659997
|
|
|
NM_024675.4(PALB2):c.2326T>C (p.Phe776Leu)
|
rs764925691
|
|
|
NM_024675.4(PALB2):c.2328C>A (p.Phe776Leu)
|
rs45508997
|
|
|
NM_024675.4(PALB2):c.2328del (p.Phe776fs)
|
rs1966857445
|
|
|
NM_024675.4(PALB2):c.2329G>T (p.Asp777Tyr)
|
rs148026749
|
|
|
NM_024675.4(PALB2):c.2329delinsCTGTC (p.Asp777fs)
|
|
|
|
NM_024675.4(PALB2):c.232_233del (p.Val78fs)
|
rs776284609
|
|
|
NM_024675.4(PALB2):c.2332A>G (p.Ser778Gly)
|
rs1567217583
|
|
|
NM_024675.4(PALB2):c.2334T>C (p.Ser778=)
|
|
|
|
NM_024675.4(PALB2):c.2335T>C (p.Ser779Pro)
|
|
|
|
NM_024675.4(PALB2):c.2335T>G (p.Ser779Ala)
|
rs1064793640
|
|
|
NM_024675.4(PALB2):c.2337A>C (p.Ser779=)
|
rs786201651
|
|
|
NM_024675.4(PALB2):c.2338G>T (p.Gly780Cys)
|
rs1555460392
|
|
|
NM_024675.4(PALB2):c.2339G>T (p.Gly780Val)
|
rs1966857283
|
|
|
NM_024675.4(PALB2):c.233T>C (p.Val78Ala)
|
rs1313634930
|
|
|
NM_024675.4(PALB2):c.2340C>T (p.Gly780=)
|
rs1064794853
|
|
|
NM_024675.4(PALB2):c.2343C>T (p.Ser781=)
|
|
|
|
NM_024675.4(PALB2):c.2345C>A (p.Pro782Gln)
|
rs772095244
|
|
|
NM_024675.4(PALB2):c.2345C>T (p.Pro782Leu)
|
rs772095244
|
|
|
NM_024675.4(PALB2):c.2348C>A (p.Ala783Glu)
|
rs1473991269
|
|
|
NM_024675.4(PALB2):c.2348C>T (p.Ala783Val)
|
rs1473991269
|
|
|
NM_024675.4(PALB2):c.2349A>G (p.Ala783=)
|
rs2142375025
|
|
|
NM_024675.4(PALB2):c.2350A>C (p.Lys784Gln)
|
rs1833331932
|
|
|
NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter)
|
rs1833331932
|
|
|
NM_024675.4(PALB2):c.2351A>C (p.Lys784Thr)
|
|
|
|
NM_024675.4(PALB2):c.2352dup (p.Pro785fs)
|
|
|
|
NM_024675.4(PALB2):c.2353C>T (p.Pro785Ser)
|
rs730881889
|
|
|
NM_024675.4(PALB2):c.2353_2354del (p.Pro785fs)
|
rs2142374907
|
|
|
NM_024675.4(PALB2):c.2357A>G (p.His786Arg)
|
rs774503574
|
|
|
NM_024675.4(PALB2):c.2358T>A (p.His786Gln)
|
|
|
|
NM_024675.4(PALB2):c.2358T>C (p.His786=)
|
rs912615354
|
|
|
NM_024675.4(PALB2):c.2359dup (p.Thr787fs)
|
rs2142374794
|
|
|
NM_024675.4(PALB2):c.2360C>G (p.Thr787Ser)
|
rs201042302
|
|
|
NM_024675.4(PALB2):c.2363C>A (p.Thr788Asn)
|
rs1567217501
|
|
|
NM_024675.4(PALB2):c.2363C>T (p.Thr788Ile)
|
rs1567217501
|
|
|
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.2368C>T (p.Gln790Ter)
|
rs886039480
|
|
|
NM_024675.4(PALB2):c.2369A>G (p.Gln790Arg)
|
rs1966856999
|
|
|
NM_024675.4(PALB2):c.2369_2372del (p.Gln790fs)
|
rs1966856962
|
|
|
NM_024675.4(PALB2):c.2370A>G (p.Gln790=)
|
rs1555460368
|
|
|
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)
|
rs1060502748
|
|
|
NM_024675.4(PALB2):c.2377G>A (p.Gly793Ser)
|
rs878855109
|
|
|
NM_024675.4(PALB2):c.2379C>G (p.Gly793=)
|
|
|
|
NM_024675.4(PALB2):c.2381G>A (p.Arg794Lys)
|
|
|
|
NM_024675.4(PALB2):c.2382G>A (p.Arg794=)
|
rs786203837
|
|
|
NM_024675.4(PALB2):c.2382G>T (p.Arg794Ser)
|
rs786203837
|
|
|
NM_024675.4(PALB2):c.2382_2383delinsTT (p.Arg794_Gln795delinsSerTer)
|
rs2142374295
|
|
|
NM_024675.4(PALB2):c.2382_2394delinsTC (p.Arg794fs)
|
|
|
|
NM_024675.4(PALB2):c.2383C>G (p.Gln795Glu)
|
rs1966856854
|
|
|
NM_024675.4(PALB2):c.2383C>T (p.Gln795Ter)
|
rs1966856854
|
|
|
NM_024675.4(PALB2):c.2388A>G (p.Gly796=)
|
rs2142374175
|
|
|
NM_024675.4(PALB2):c.2389C>A (p.Gln797Lys)
|
rs1060502768
|
|
|
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter)
|
rs1060502768
|
|
|
NM_024675.4(PALB2):c.238G>A (p.Asp80Asn)
|
rs2142447895
|
|
|
NM_024675.4(PALB2):c.2390_2396del (p.Gln797fs)
|
rs587780211
|
|
|
NM_024675.4(PALB2):c.2391del (p.Gln797fs)
|
rs1555460360
|
|
|
NM_024675.4(PALB2):c.2393_2394dup (p.Thr799fs)
|
rs1966856749
|
|
|
NM_024675.4(PALB2):c.2396C>A (p.Thr799Asn)
|
rs1597089093
|
|
|
NM_024675.4(PALB2):c.2397C>G (p.Thr799=)
|
rs2142373917
|
|
|
NM_024675.4(PALB2):c.2397C>T (p.Thr799=)
|
rs2142373917
|
|
|
NM_024675.4(PALB2):c.2398T>A (p.Cys800Ser)
|
rs1567217401
|
|
|
NM_024675.4(PALB2):c.2400T>A (p.Cys800Ter)
|
|
|
|
NM_024675.4(PALB2):c.2402A>G (p.Asp801Gly)
|
rs1555460348
|
|
|
NM_024675.4(PALB2):c.2404T>A (p.Cys802Ser)
|
rs1966856613
|
|
|
NM_024675.4(PALB2):c.2405G>A (p.Cys802Tyr)
|
|
|
|
NM_024675.4(PALB2):c.2405del (p.Cys802fs)
|
rs1966856604
|
|
|
NM_024675.4(PALB2):c.2406T>C (p.Cys802=)
|
|
|
|
NM_024675.4(PALB2):c.2406T>G (p.Cys802Trp)
|
rs1966856594
|
|
|
NM_024675.4(PALB2):c.2406_2407del (p.Cys802_Asp803delinsTer)
|
rs1966856585
|
|
|
NM_024675.4(PALB2):c.2407G>T (p.Asp803Tyr)
|
rs1966856576
|
|
|
NM_024675.4(PALB2):c.2407_2409dup (p.Asp803_Ser804insAsp)
|
|
|
|
NM_024675.4(PALB2):c.2408_2409dup (p.Ser804fs)
|
|
|
|
NM_024675.4(PALB2):c.240C>A (p.Asp80Glu)
|
rs1597099799
|
|
|
NM_024675.4(PALB2):c.240C>G (p.Asp80Glu)
|
rs1597099799
|
|
|
NM_024675.4(PALB2):c.2411C>G (p.Ser804Cys)
|
rs149836639
|
|
|
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)
|
rs747148023
|
|
|
NM_024675.4(PALB2):c.2413G>A (p.Val805Ile)
|
rs876659475
|
|
|
NM_024675.4(PALB2):c.2414T>A (p.Val805Asp)
|
rs1567217364
|
|
|
NM_024675.4(PALB2):c.2416C>A (p.Pro806Thr)
|
|
|
|
NM_024675.4(PALB2):c.2417C>A (p.Pro806Gln)
|
rs45464991
|
|
|
NM_024675.4(PALB2):c.2417C>G (p.Pro806Arg)
|
rs45464991
|
|
|
NM_024675.4(PALB2):c.2418G>T (p.Pro806=)
|
rs577076372
|
|
|
NM_024675.4(PALB2):c.2422G>A (p.Gly808Arg)
|
rs1064795507
|
|
|
NM_024675.4(PALB2):c.2422G>T (p.Gly808Ter)
|
rs1064795507
|
|
|
NM_024675.4(PALB2):c.2424A>C (p.Gly808=)
|
rs1060504714
|
|
|
NM_024675.4(PALB2):c.2425A>G (p.Thr809Ala)
|
rs753204710
|
|
|
NM_024675.4(PALB2):c.2425_2432delinsCAG (p.Thr809fs)
|
|
|
|
NM_024675.4(PALB2):c.2425del (p.Thr809fs)
|
|
|
|
NM_024675.4(PALB2):c.2427A>C (p.Thr809=)
|
rs768064297
|
|
|
NM_024675.4(PALB2):c.2429C>T (p.Pro810Leu)
|
rs1555460335
|
|
|
NM_024675.4(PALB2):c.242A>G (p.Lys81Arg)
|
rs786203440
|
|
|
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs)
|
rs1555460334
|
|
|
NM_024675.4(PALB2):c.2431C>T (p.Pro811Ser)
|
rs866520250
|
|
|
NM_024675.4(PALB2):c.2433A>C (p.Pro811=)
|
rs2142373104
|
|
|
NM_024675.4(PALB2):c.2434C>A (p.Pro812Thr)
|
|
|
|
NM_024675.4(PALB2):c.2434C>T (p.Pro812Ser)
|
rs1060502751
|
|
|
NM_024675.4(PALB2):c.2435C>G (p.Pro812Arg)
|
rs774502617
|
|
|
NM_024675.4(PALB2):c.2437A>C (p.Ile813Leu)
|
rs766396469
|
|
|
NM_024675.4(PALB2):c.243G>A (p.Lys81=)
|
rs1060502775
|
|
|
NM_024675.4(PALB2):c.243G>C (p.Lys81Asn)
|
rs1060502775
|
|
|
NM_024675.4(PALB2):c.2441A>G (p.Glu814Gly)
|
rs1567217273
|
|
|
NM_024675.4(PALB2):c.2441_2447del (p.Glu814fs)
|
|
|
|
NM_024675.4(PALB2):c.2443T>G (p.Ser815Ala)
|
rs746802428
|
|
|
NM_024675.4(PALB2):c.2444C>A (p.Ser815Ter)
|
|
|
|
NM_024675.4(PALB2):c.2444C>G (p.Ser815Ter)
|
|
|
|
NM_024675.4(PALB2):c.2444C>T (p.Ser815Leu)
|
rs879254068
|
|
|
NM_024675.4(PALB2):c.2444_2451delinsGGTGGTG (p.Ser815fs)
|
|
|
|
NM_024675.4(PALB2):c.2445A>G (p.Ser815=)
|
rs1567217255
|
|
|
NM_024675.4(PALB2):c.2446T>A (p.Phe816Ile)
|
|
|
|
NM_024675.4(PALB2):c.2446T>C (p.Phe816Leu)
|
rs1567217251
|
|
|
NM_024675.4(PALB2):c.2448C>A (p.Phe816Leu)
|
rs876659879
|
|
|
NM_024675.4(PALB2):c.2448C>G (p.Phe816Leu)
|
rs876659879
|
|
|
NM_024675.4(PALB2):c.2448C>T (p.Phe816=)
|
rs876659879
|
|
|
NM_024675.4(PALB2):c.2449A>G (p.Thr817Ala)
|
|
|
|
NM_024675.4(PALB2):c.244T>C (p.Leu82=)
|
rs763378141
|
|
|
NM_024675.4(PALB2):c.2451T>G (p.Thr817=)
|
rs2142372740
|
|
|
NM_024675.4(PALB2):c.2452T>A (p.Phe818Ile)
|
rs1555460328
|
|
|
NM_024675.4(PALB2):c.2452T>C (p.Phe818Leu)
|
rs1555460328
|
|
|
NM_024675.4(PALB2):c.2453_2455delinsCT (p.Phe818fs)
|
|
|
|
NM_024675.4(PALB2):c.2454T>C (p.Phe818=)
|
|
|
|
NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs)
|
rs1555460325
|
|
|
NM_024675.4(PALB2):c.2457A>G (p.Lys819=)
|
|
|
|
NM_024675.4(PALB2):c.2458G>A (p.Glu820Lys)
|
rs772048795
|
|
|
NM_024675.4(PALB2):c.2461A>C (p.Asn821His)
|
rs958566673
|
|
|
NM_024675.4(PALB2):c.2461A>T (p.Asn821Tyr)
|
rs958566673
|
|
|
NM_024675.4(PALB2):c.2462del (p.Asn821fs)
|
|
|
|
NM_024675.4(PALB2):c.2463T>C (p.Asn821=)
|
|
|
|
NM_024675.4(PALB2):c.2463delinsAA (p.Asn821fs)
|
|
|
|
NM_024675.4(PALB2):c.2464C>T (p.Gln822Ter)
|
rs1555460323
|
|
|
NM_024675.4(PALB2):c.2465A>G (p.Gln822Arg)
|
rs1299917568
|
|
|
NM_024675.4(PALB2):c.2466G>A (p.Gln822=)
|
rs1157451265
|
|
|
NM_024675.4(PALB2):c.2466G>T (p.Gln822His)
|
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.2470dup (p.Cys824fs)
|
rs863224521
|
|
|
NM_024675.4(PALB2):c.2471G>A (p.Cys824Tyr)
|
rs1597088831
|
|
|
NM_024675.4(PALB2):c.2473A>G (p.Arg825Gly)
|
rs745747228
|
|
|
NM_024675.4(PALB2):c.2476_2477dup (p.Asn826fs)
|
|
|
|
NM_024675.4(PALB2):c.2477A>G (p.Asn826Ser)
|
rs2142372189
|
|
|
NM_024675.4(PALB2):c.2477del (p.Asn826fs)
|
|
|
|
NM_024675.4(PALB2):c.2479del (p.Thr827fs)
|
rs1597088811
|
|
|
NM_024675.4(PALB2):c.247C>A (p.His83Asn)
|
rs773732106
|
|
|
NM_024675.4(PALB2):c.247C>T (p.His83Tyr)
|
rs773732106
|
|
|
NM_024675.4(PALB2):c.2480C>T (p.Thr827Ile)
|
rs1597088802
|
|
|
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs)
|
rs1555460315
|
|
|
NM_024675.4(PALB2):c.2480del (p.Thr827fs)
|
|
|
|
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.2482T>C (p.Cys828Arg)
|
rs876660545
|
|
|
NM_024675.4(PALB2):c.2485C>T (p.Gln829Ter)
|
rs1966855759
|
|
|
NM_024675.4(PALB2):c.2488del (p.Glu830fs)
|
rs876658813
|
|
|
NM_024675.4(PALB2):c.2489A>G (p.Glu830Gly)
|
rs756800333
|
|
|
NM_024675.4(PALB2):c.248A>C (p.His83Pro)
|
rs2142447708
|
|
|
NM_024675.4(PALB2):c.248A>G (p.His83Arg)
|
rs2142447708
|
|
|
NM_024675.4(PALB2):c.2491C>A (p.Leu831Met)
|
rs2142371841
|
|
|
NM_024675.4(PALB2):c.2491C>G (p.Leu831Val)
|
rs2142371841
|
|
|
NM_024675.4(PALB2):c.2493G>A (p.Leu831=)
|
rs749001322
|
|
|
NM_024675.4(PALB2):c.2494C>T (p.His832Tyr)
|
rs901786175
|
|
|
NM_024675.4(PALB2):c.2495A>G (p.His832Arg)
|
|
|
|
NM_024675.4(PALB2):c.2496T>C (p.His832=)
|
|
|
|
NM_024675.4(PALB2):c.2496_2513del (p.His832_Glu837del)
|
rs1966855412
|
|
|
NM_024675.4(PALB2):c.2497_2502del (p.Lys833_His834del)
|
rs2142371632
|
|
|
NM_024675.4(PALB2):c.2498_2505del (p.Lys833fs)
|
|
|
|
NM_024675.4(PALB2):c.2499A>T (p.Lys833Asn)
|
rs1567217151
|
|
|
NM_024675.4(PALB2):c.249C>T (p.His83=)
|
rs1057523390
|
|
|
NM_024675.4(PALB2):c.249del (p.His83fs)
|
|
|
|
NM_024675.4(PALB2):c.24_25del (p.Leu9fs)
|
rs2142481327
|
|
|
NM_024675.4(PALB2):c.2500C>T (p.His834Tyr)
|
rs1555460308
|
|
|
NM_024675.4(PALB2):c.2501A>G (p.His834Arg)
|
rs1966855645
|
|
|
NM_024675.4(PALB2):c.2502T>C (p.His834=)
|
rs1060504703
|
|
|
NM_024675.4(PALB2):c.2503T>G (p.Ser835Ala)
|
rs1343435250
|
|
|
NM_024675.4(PALB2):c.2503del (p.Ser835fs)
|
|
|
|
NM_024675.4(PALB2):c.2504C>T (p.Ser835Phe)
|
rs876660357
|
|
|
NM_024675.4(PALB2):c.2505C>A (p.Ser835=)
|
rs756502783
|
|
|
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile)
|
rs536644825
|
|
|
NM_024675.4(PALB2):c.2506G>T (p.Val836Phe)
|
rs536644825
|
|
|
NM_024675.4(PALB2):c.2506dup (p.Val836fs)
|
rs1966855544
|
|
|
NM_024675.4(PALB2):c.2507T>A (p.Val836Asp)
|
rs1060502793
|
|
|
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.2509G>C (p.Glu837Gln)
|
rs587778587
|
|
|
NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter)
|
rs587778587
|
|
|
NM_024675.4(PALB2):c.2509_2514+9del
|
|
|
|
NM_024675.4(PALB2):c.250A>G (p.Ile84Val)
|
|
|
|
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)
|
rs750650768
|
|
|
NM_024675.4(PALB2):c.2512_2513del (p.Gln838fs)
|
|
|
|
NM_024675.4(PALB2):c.2513A>G (p.Gln838Arg)
|
rs1555460298
|
|
|
NM_024675.4(PALB2):c.2514+10A>G
|
rs1032636199
|
|
|
NM_024675.4(PALB2):c.2514+15C>G
|
|
|
|
NM_024675.4(PALB2):c.2514+18T>A
|
|
|
|
NM_024675.4(PALB2):c.2514+18T>G
|
rs1057521010
|
|
|
NM_024675.4(PALB2):c.2514+19G>A
|
|
|
|
NM_024675.4(PALB2):c.2514+1G>A
|
rs886039729
|
|
|
NM_024675.4(PALB2):c.2514+1G>C
|
rs886039729
|
|
|
NM_024675.4(PALB2):c.2514+20_2514+21del
|
rs750567675
|
|
|
NM_024675.4(PALB2):c.2514+4C>T
|
rs1597088645
|
|
|
NM_024675.4(PALB2):c.2514+8C>G
|
rs1060504706
|
|
|
NM_024675.4(PALB2):c.2514+9C>T
|
rs762994288
|
|
|
NM_024675.4(PALB2):c.2514G>T (p.Gln838His)
|
rs1064794902
|
|
|
NM_024675.4(PALB2):c.2515-12T>C
|
rs1555460234
|
|
|
NM_024675.4(PALB2):c.2515-12_2515-11del
|
rs1966854164
|
|
|
NM_024675.4(PALB2):c.2515-15C>G
|
|
|
|
NM_024675.4(PALB2):c.2515-16A>G
|
rs1555460241
|
|
|
NM_024675.4(PALB2):c.2515-17G>C
|
rs1966854210
|
|
|
NM_024675.4(PALB2):c.2515-18T>C
|
|
|
|
NM_024675.4(PALB2):c.2515-19G>A
|
|
|
|
NM_024675.4(PALB2):c.2515-1G>A
|
rs587776417
|
|
|
NM_024675.4(PALB2):c.2515-1G>C
|
rs587776417
|
|
|
NM_024675.4(PALB2):c.2515-20T>C
|
rs1567216962
|
|
|
NM_024675.4(PALB2):c.2515-21_2515-19del
|
rs1064794514
|
|
|
NM_024675.4(PALB2):c.2515-3C>G
|
rs957106428
|
|
|
NM_024675.4(PALB2):c.2515-3C>T
|
rs957106428
|
|
|
NM_024675.4(PALB2):c.2515-3_2515-2del
|
|
|
|
NM_024675.4(PALB2):c.2515-6T>C
|
rs1597088273
|
|
|
NM_024675.4(PALB2):c.2515-7T>G
|
rs1555460231
|
|
|
NM_024675.4(PALB2):c.2515A>C (p.Thr839Pro)
|
|
|
|
NM_024675.4(PALB2):c.2515A>G (p.Thr839Ala)
|
|
|
|
NM_024675.4(PALB2):c.2519A>G (p.Glu840Gly)
|
rs2142369107
|
|
|
NM_024675.4(PALB2):c.2520A>G (p.Glu840=)
|
rs2142369096
|
|
|
NM_024675.4(PALB2):c.2521A>G (p.Thr841Ala)
|
rs368990417
|
|
|
NM_024675.4(PALB2):c.2521del (p.Thr841fs)
|
rs180177116
|
|
|
NM_024675.4(PALB2):c.2524_2535delinsTCAGA (p.Ala842fs)
|
rs786203382
|
|
|
NM_024675.4(PALB2):c.2527G>A (p.Glu843Lys)
|
|
|
|
NM_024675.4(PALB2):c.2527_2548del (p.Ala842_Glu843insTer)
|
rs2142368508
|
|
|
NM_024675.4(PALB2):c.2528A>G (p.Glu843Gly)
|
|
|
|
NM_024675.4(PALB2):c.2528A>T (p.Glu843Val)
|
rs1966854027
|
|
|
NM_024675.4(PALB2):c.2528del (p.Glu843fs)
|
|
|
|
NM_024675.4(PALB2):c.2529G>A (p.Glu843=)
|
rs2142368926
|
|
|
NM_024675.4(PALB2):c.2529G>C (p.Glu843Asp)
|
|
|
|
NM_024675.4(PALB2):c.252C>G (p.Ile84Met)
|
rs1967059537
|
|
|
NM_024675.4(PALB2):c.252C>T (p.Ile84=)
|
|
|
|
NM_024675.4(PALB2):c.2530C>T (p.Leu844Phe)
|
rs2142368906
|
|
|
NM_024675.4(PALB2):c.2531T>C (p.Leu844Pro)
|
rs375713631
|
|
|
NM_024675.4(PALB2):c.2531T>G (p.Leu844Arg)
|
rs375713631
|
|
|
NM_024675.4(PALB2):c.2533C>T (p.Pro845Ser)
|
rs1167924094
|
|
|
NM_024675.4(PALB2):c.2534C>T (p.Pro845Leu)
|
rs1597088217
|
|
|
NM_024675.4(PALB2):c.2534_2540del (p.Pro845fs)
|
|
|
|
NM_024675.4(PALB2):c.2535T>C (p.Pro845=)
|
rs1567216906
|
|
|
NM_024675.4(PALB2):c.253A>G (p.Lys85Glu)
|
rs1967059440
|
|
|
NM_024675.4(PALB2):c.2540C>G (p.Ser847Cys)
|
rs1567216902
|
|
|
NM_024675.4(PALB2):c.2543A>G (p.Asp848Gly)
|
rs762129437
|
|
|
NM_024675.4(PALB2):c.2544T>A (p.Asp848Glu)
|
|
|
|
NM_024675.4(PALB2):c.2544T>C (p.Asp848=)
|
rs753978124
|
|
|
NM_024675.4(PALB2):c.2545A>G (p.Ser849Gly)
|
rs2142368594
|
|
|
NM_024675.4(PALB2):c.2546G>A (p.Ser849Asn)
|
|
|
|
NM_024675.4(PALB2):c.2548A>G (p.Ile850Val)
|
|
|
|
NM_024675.4(PALB2):c.2549T>G (p.Ile850Arg)
|
rs1966853918
|
|
|
NM_024675.4(PALB2):c.2549del (p.Ile850fs)
|
rs2142368459
|
|
|
NM_024675.4(PALB2):c.2549dup (p.Asn851fs)
|
|
|
|
NM_024675.4(PALB2):c.254A>G (p.Lys85Arg)
|
rs1597099769
|
|
|
NM_024675.4(PALB2):c.2550A>C (p.Ile850=)
|
rs2142368431
|
|
|
NM_024675.4(PALB2):c.2552A>G (p.Asn851Ser)
|
rs1597088176
|
|
|
NM_024675.4(PALB2):c.2552_2556del (p.Asn851fs)
|
|
|
|
NM_024675.4(PALB2):c.2552dup (p.Asn851fs)
|
|
|
|
NM_024675.4(PALB2):c.2553C>A (p.Asn851Lys)
|
rs2142368337
|
|
|
NM_024675.4(PALB2):c.2554C>T (p.Pro852Ser)
|
|
|
|
NM_024675.4(PALB2):c.2555C>T (p.Pro852Leu)
|
|
|
|
NM_024675.4(PALB2):c.2557G>C (p.Gly853Arg)
|
|
|
|
NM_024675.4(PALB2):c.2560_2561del (p.Asn854fs)
|
rs1597088146
|
|
|
NM_024675.4(PALB2):c.2561A>G (p.Asn854Ser)
|
rs146455175
|
|
|
NM_024675.4(PALB2):c.2562C>G (p.Asn854Lys)
|
rs1966853809
|
|
|
NM_024675.4(PALB2):c.2562C>T (p.Asn854=)
|
rs1966853809
|
|
|
NM_024675.4(PALB2):c.2563C>A (p.Leu855Ile)
|
|
|
|
NM_024675.4(PALB2):c.2563C>T (p.Leu855=)
|
rs1555460212
|
|
|
NM_024675.4(PALB2):c.2563del (p.Leu855fs)
|
rs1966853795
|
|
|
NM_024675.4(PALB2):c.2565A>G (p.Leu855=)
|
rs1375921468
|
|
|
NM_024675.4(PALB2):c.2566C>A (p.Gln856Lys)
|
rs770996884
|
|
|
NM_024675.4(PALB2):c.2566C>G (p.Gln856Glu)
|
rs770996884
|
|
|
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.256A>C (p.Thr86Pro)
|
|
|
|
NM_024675.4(PALB2):c.2570dup (p.Leu857fs)
|
|
|
|
NM_024675.4(PALB2):c.2571G>A (p.Leu857=)
|
rs587780821
|
|
|
NM_024675.4(PALB2):c.2572G>C (p.Val858Leu)
|
rs1597088111
|
|
|
NM_024675.4(PALB2):c.2575del (p.Ser859fs)
|
rs2142367858
|
|
|
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter)
|
rs1057517539
|
|
|
NM_024675.4(PALB2):c.2576_2577del (p.Val858_Ser859insTer)
|
|
|
|
NM_024675.4(PALB2):c.2578G>A (p.Glu860Lys)
|
|
|
|
NM_024675.4(PALB2):c.2578G>T (p.Glu860Ter)
|
|
|
|
NM_024675.4(PALB2):c.2579A>G (p.Glu860Gly)
|
|
|
|
NM_024675.4(PALB2):c.2579del (p.Glu860fs)
|
|
|
|
NM_024675.4(PALB2):c.257C>G (p.Thr86Ser)
|
rs1967059270
|
|
|
NM_024675.4(PALB2):c.257C>T (p.Thr86Ile)
|
|
|
|
NM_024675.4(PALB2):c.2580G>A (p.Glu860=)
|
|
|
|
NM_024675.4(PALB2):c.2580G>T (p.Glu860Asp)
|
rs1348398121
|
|
|
NM_024675.4(PALB2):c.2581T>G (p.Leu861Val)
|
rs1060502763
|
|
|
NM_024675.4(PALB2):c.2582T>G (p.Leu861Ter)
|
|
|
|
NM_024675.4(PALB2):c.2583A>T (p.Leu861Phe)
|
rs1966853602
|
|
|
NM_024675.4(PALB2):c.2585del (p.Lys862fs)
|
rs752513498
|
|
|
NM_024675.4(PALB2):c.2586+11T>C
|
rs1555460208
|
|
|
NM_024675.4(PALB2):c.2586+12A>G
|
rs2142367499
|
|
|
NM_024675.4(PALB2):c.2586+15C>A
|
rs144625889
|
|
|
NM_024675.4(PALB2):c.2586+15C>G
|
|
|
|
NM_024675.4(PALB2):c.2586+18T>C
|
|
|
|
NM_024675.4(PALB2):c.2586+19T>A
|
rs2142367445
|
|
|
NM_024675.4(PALB2):c.2586+1G>A
|
|
|
|
NM_024675.4(PALB2):c.2586+1G>T
|
rs1375713365
|
|
|
NM_024675.4(PALB2):c.2586+1_2586+2delinsTA
|
|
|
|
NM_024675.4(PALB2):c.2586+1_2586+3delinsTTG
|
|
|
|
NM_024675.4(PALB2):c.2586+20C>T
|
rs2142367431
|
|
|
NM_024675.4(PALB2):c.2586+31T>G
|
rs180177117
|
|
|
NM_024675.4(PALB2):c.2586+3C>G
|
rs1597088078
|
|
|
NM_024675.4(PALB2):c.2586+3C>T
|
rs1597088078
|
|
|
NM_024675.4(PALB2):c.2586+4A>C
|
|
|
|
NM_024675.4(PALB2):c.2586+6A>G
|
rs1966853543
|
|
|
NM_024675.4(PALB2):c.2586+6A>T
|
rs1966853543
|
|
|
NM_024675.4(PALB2):c.2586+7A>G
|
rs2142367551
|
|
|
NM_024675.4(PALB2):c.2586+8G>A
|
rs1060504708
|
|
|
NM_024675.4(PALB2):c.2586+8G>C
|
rs1060504708
|
|
|
NM_024675.4(PALB2):c.2587-10A>G
|
rs1060504711
|
|
|
NM_024675.4(PALB2):c.2587-11C>T
|
rs1966842946
|
|
|
NM_024675.4(PALB2):c.2587-11_2587-10delinsAT
|
rs2142356910
|
|
|
NM_024675.4(PALB2):c.2587-11del
|
rs2142356928
|
|
|
NM_024675.4(PALB2):c.2587-13G>T
|
|
|
|
NM_024675.4(PALB2):c.2587-15T>C
|
|
|
|
NM_024675.4(PALB2):c.2587-19A>G
|
rs1178447858
|
|
|
NM_024675.4(PALB2):c.2587-1G>A
|
|
|
|
NM_024675.4(PALB2):c.2587-1G>C
|
rs761214886
|
|
|
NM_024675.4(PALB2):c.2587-22A>G
|
|
|
|
NM_024675.4(PALB2):c.2587-2A>C
|
rs1060502787
|
|
|
NM_024675.4(PALB2):c.2587-37G>C
|
rs180177118
|
|
|
NM_024675.4(PALB2):c.2587-404_2834+310del
|
|
|
|
NM_024675.4(PALB2):c.2587-4T>C
|
rs1597085437
|
|
|
NM_024675.4(PALB2):c.2587-59T>C
|
rs371085248
|
|
|
NM_024675.4(PALB2):c.2587-5G>A
|
rs1057522036
|
|
|
NM_024675.4(PALB2):c.2587-6T>C
|
rs1567215608
|
|
|
NM_024675.4(PALB2):c.2587-7G>A
|
rs932395531
|
|
|
NM_024675.4(PALB2):c.2587-8T>C
|
rs1489345430
|
|
|
NM_024675.4(PALB2):c.2587-8T>G
|
rs1489345430
|
|
|
NM_024675.4(PALB2):c.2587-9T>C
|
rs1567215613
|
|
|
NM_024675.4(PALB2):c.2588A>C (p.Asn863Thr)
|
|
|
|
NM_024675.4(PALB2):c.258C>T (p.Thr86=)
|
rs2142447498
|
|
|
NM_024675.4(PALB2):c.2590C>A (p.Pro864Thr)
|
rs45568339
|
|
|
NM_024675.4(PALB2):c.2591C>A (p.Pro864His)
|
rs2142356686
|
|
|
NM_024675.4(PALB2):c.2592T>C (p.Pro864=)
|
rs1597085410
|
|
|
NM_024675.4(PALB2):c.2594C>G (p.Ser865Ter)
|
rs746604683
|
|
|
NM_024675.4(PALB2):c.2595A>G (p.Ser865=)
|
rs1597085400
|
|
|
NM_024675.4(PALB2):c.2595A>T (p.Ser865=)
|
rs1597085400
|
|
|
NM_024675.4(PALB2):c.2596G>A (p.Gly866Ser)
|
rs780415750
|
|
|
NM_024675.4(PALB2):c.2597G>T (p.Gly866Val)
|
rs62625279
|
|
|
NM_024675.4(PALB2):c.2597del (p.Gly866fs)
|
rs786204156
|
|
|
NM_024675.4(PALB2):c.2599T>C (p.Ser867Pro)
|
|
|
|
NM_024675.4(PALB2):c.25C>T (p.Leu9Phe)
|
rs1060502744
|
|
|
NM_024675.4(PALB2):c.2600C>G (p.Ser867Cys)
|
rs2142356460
|
|
|
NM_024675.4(PALB2):c.2602T>C (p.Cys868Arg)
|
rs1555460026
|
|
|
NM_024675.4(PALB2):c.2602T>G (p.Cys868Gly)
|
rs1555460026
|
|
|
NM_024675.4(PALB2):c.2604T>A (p.Cys868Ter)
|
|
|
|
NM_024675.4(PALB2):c.2604_2611del (p.Cys868_Asp871delinsTer)
|
rs1966842803
|
|
|
NM_024675.4(PALB2):c.2605T>C (p.Ser869Pro)
|
rs2142356352
|
|
|
NM_024675.4(PALB2):c.2606C>A (p.Ser869Tyr)
|
rs779279139
|
|
|
NM_024675.4(PALB2):c.2606C>G (p.Ser869Cys)
|
rs779279139
|
|
|
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.2607del (p.Ser869_Val870insTer)
|
rs767633741
|
|
|
NM_024675.4(PALB2):c.2607dup (p.Val870fs)
|
rs767633741
|
|
|
NM_024675.4(PALB2):c.2608G>C (p.Val870Leu)
|
rs376641234
|
|
|
NM_024675.4(PALB2):c.2608G>T (p.Val870Leu)
|
rs376641234
|
|
|
NM_024675.4(PALB2):c.2609T>C (p.Val870Ala)
|
rs876659819
|
|
|
NM_024675.4(PALB2):c.2609T>G (p.Val870Gly)
|
rs876659819
|
|
|
NM_024675.4(PALB2):c.2612A>T (p.Asp871Val)
|
rs515726090
|
|
|
NM_024675.4(PALB2):c.2613T>A (p.Asp871Glu)
|
rs1555460011
|
|
|
NM_024675.4(PALB2):c.2613T>C (p.Asp871=)
|
|
|
|
NM_024675.4(PALB2):c.2613del (p.Asp871fs)
|
|
|
|
NM_024675.4(PALB2):c.2614G>A (p.Val872Met)
|
rs1064793628
|
|
|
NM_024675.4(PALB2):c.2615T>C (p.Val872Ala)
|
rs730881877
|
|
|
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.261_265delinsA (p.His87fs)
|
|
|
|
NM_024675.4(PALB2):c.261dup (p.Leu88fs)
|
|
|
|
NM_024675.4(PALB2):c.2620G>T (p.Ala874Ser)
|
|
|
|
NM_024675.4(PALB2):c.2621C>A (p.Ala874Asp)
|
rs1440952139
|
|
|
NM_024675.4(PALB2):c.2623A>G (p.Met875Val)
|
rs1060502750
|
|
|
NM_024675.4(PALB2):c.2623A>T (p.Met875Leu)
|
rs1060502750
|
|
|
NM_024675.4(PALB2):c.2625G>A (p.Met875Ile)
|
rs1966842758
|
|
|
NM_024675.4(PALB2):c.2628T>C (p.Phe876=)
|
rs876659584
|
|
|
NM_024675.4(PALB2):c.2629T>C (p.Trp877Arg)
|
rs1966842747
|
|
|
NM_024675.4(PALB2):c.262C>G (p.Leu88Val)
|
rs730881901
|
|
|
NM_024675.4(PALB2):c.262C>T (p.Leu88Phe)
|
rs730881901
|
|
|
NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter)
|
rs876660678
|
|
|
NM_024675.4(PALB2):c.2630_2643dup (p.Cys882fs)
|
rs2142355316
|
|
|
NM_024675.4(PALB2):c.2631G>A (p.Trp877Ter)
|
rs2142355636
|
|
|
NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter)
|
rs1555459999
|
|
|
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs)
|
rs876660643
|
|
|
NM_024675.4(PALB2):c.2635A>G (p.Arg879Gly)
|
rs1555459994
|
|
|
NM_024675.4(PALB2):c.2635A>T (p.Arg879Ter)
|
|
|
|
NM_024675.4(PALB2):c.2638G>A (p.Ala880Thr)
|
rs1966842713
|
|
|
NM_024675.4(PALB2):c.2639C>A (p.Ala880Asp)
|
rs1597085237
|
|
|
NM_024675.4(PALB2):c.263T>C (p.Leu88Pro)
|
rs876660270
|
|
|
NM_024675.4(PALB2):c.263T>G (p.Leu88Arg)
|
rs876660270
|
|
|
NM_024675.4(PALB2):c.2640C>G (p.Ala880=)
|
rs752928633
|
|
|
NM_024675.4(PALB2):c.2641_2654del (p.Gly881fs)
|
|
|
|
NM_024675.4(PALB2):c.2642G>A (p.Gly881Asp)
|
rs772499138
|
|
|
NM_024675.4(PALB2):c.2642G>C (p.Gly881Ala)
|
|
|
|
NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs)
|
rs730881868
|
|
|
NM_024675.4(PALB2):c.2645G>A (p.Cys882Tyr)
|
rs45486906
|
|
|
NM_024675.4(PALB2):c.2645G>T (p.Cys882Phe)
|
rs45486906
|
|
|
NM_024675.4(PALB2):c.2647A>G (p.Lys883Glu)
|
rs1966842668
|
|
|
NM_024675.4(PALB2):c.2647A>T (p.Lys883Ter)
|
|
|
|
NM_024675.4(PALB2):c.2649A>G (p.Lys883=)
|
rs786202932
|
|
|
NM_024675.4(PALB2):c.2649dup (p.Glu884fs)
|
|
|
|
NM_024675.4(PALB2):c.264del (p.Asp89fs)
|
|
|
|
NM_024675.4(PALB2):c.2650G>C (p.Glu884Gln)
|
rs1304351755
|
|
|
NM_024675.4(PALB2):c.2650G>T (p.Glu884Ter)
|
rs1304351755
|
|
|
NM_024675.4(PALB2):c.2651A>C (p.Glu884Ala)
|
|
|
|
NM_024675.4(PALB2):c.2652G>A (p.Glu884=)
|
rs1057522856
|
|
|
NM_024675.4(PALB2):c.2655A>G (p.Pro885=)
|
rs1057524113
|
|
|
NM_024675.4(PALB2):c.2655_2656insG (p.Cys886fs)
|
|
|
|
NM_024675.4(PALB2):c.2656T>A (p.Cys886Ser)
|
rs1555459977
|
|
|
NM_024675.4(PALB2):c.2656T>C (p.Cys886Arg)
|
rs1555459977
|
|
|
NM_024675.4(PALB2):c.2658T>A (p.Cys886Ter)
|
|
|
|
NM_024675.4(PALB2):c.265G>C (p.Asp89His)
|
rs769790850
|
|
|
NM_024675.4(PALB2):c.2660T>G (p.Ile887Ser)
|
rs45550935
|
|
|
NM_024675.4(PALB2):c.2661C>A (p.Ile887=)
|
rs180177120
|
|
|
NM_024675.4(PALB2):c.2661C>T (p.Ile887=)
|
rs180177120
|
|
|
NM_024675.4(PALB2):c.2662A>G (p.Ile888Val)
|
rs786202468
|
|
|
NM_024675.4(PALB2):c.2662A>T (p.Ile888Leu)
|
rs786202468
|
|
|
NM_024675.4(PALB2):c.2665A>G (p.Thr889Ala)
|
rs1966842608
|
|
|
NM_024675.4(PALB2):c.2666C>T (p.Thr889Ile)
|
rs2142354728
|
|
|
NM_024675.4(PALB2):c.2668G>A (p.Ala890Thr)
|
rs1555459971
|
|
|
NM_024675.4(PALB2):c.2668G>C (p.Ala890Pro)
|
rs1555459971
|
|
|
NM_024675.4(PALB2):c.2669C>T (p.Ala890Val)
|
rs1966842597
|
|
|
NM_024675.4(PALB2):c.266A>G (p.Asp89Gly)
|
rs786201790
|
|
|
NM_024675.4(PALB2):c.2670T>A (p.Ala890=)
|
rs1597085149
|
|
|
NM_024675.4(PALB2):c.2670T>C (p.Ala890=)
|
rs1597085149
|
|
|
NM_024675.4(PALB2):c.2671T>A (p.Cys891Ser)
|
rs786204208
|
|
|
NM_024675.4(PALB2):c.2671T>C (p.Cys891Arg)
|
|
|
|
NM_024675.4(PALB2):c.2673C>A (p.Cys891Ter)
|
rs78179744
|
|
|
NM_024675.4(PALB2):c.2673_2674delinsGA (p.Cys891_Glu892delinsTrpLys)
|
rs1555459967
|
|
|
NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter)
|
rs45476495
|
|
|
NM_024675.4(PALB2):c.2676A>G (p.Glu892=)
|
rs1966842547
|
|
|
NM_024675.4(PALB2):c.2677G>C (p.Asp893His)
|
|
|
|
NM_024675.4(PALB2):c.2678A>C (p.Asp893Ala)
|
rs1060502783
|
|
|
NM_024675.4(PALB2):c.2678A>G (p.Asp893Gly)
|
rs1060502783
|
|
|
NM_024675.4(PALB2):c.2678A>T (p.Asp893Val)
|
rs1060502783
|
|
|
NM_024675.4(PALB2):c.2679T>C (p.Asp893=)
|
rs1597085114
|
|
|
NM_024675.4(PALB2):c.2682A>C (p.Val894=)
|
rs1555459959
|
|
|
NM_024675.4(PALB2):c.2682A>G (p.Val894=)
|
rs1555459959
|
|
|
NM_024675.4(PALB2):c.2683G>T (p.Val895Phe)
|
rs1597085101
|
|
|
NM_024675.4(PALB2):c.2686T>C (p.Ser896Pro)
|
rs1966842504
|
|
|
NM_024675.4(PALB2):c.2686del (p.Ser896fs)
|
rs1555459954
|
|
|
NM_024675.4(PALB2):c.2686dup (p.Ser896fs)
|
rs1555459954
|
|
|
NM_024675.4(PALB2):c.2687C>G (p.Ser896Cys)
|
rs1597085085
|
|
|
NM_024675.4(PALB2):c.2687C>T (p.Ser896Phe)
|
rs1597085085
|
|
|
NM_024675.4(PALB2):c.268G>T (p.Glu90Ter)
|
|
|
|
NM_024675.4(PALB2):c.2690T>C (p.Leu897Pro)
|
rs876660377
|
|
|
NM_024675.4(PALB2):c.2692T>C (p.Trp898Arg)
|
rs776016200
|
|
|
NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter)
|
rs876658983
|
|
|
NM_024675.4(PALB2):c.2693G>T (p.Trp898Leu)
|
|
|
|
NM_024675.4(PALB2):c.2694G>A (p.Trp898Ter)
|
rs1555459949
|
|
|
NM_024675.4(PALB2):c.2695A>C (p.Lys899Gln)
|
|
|
|
NM_024675.4(PALB2):c.2698G>A (p.Ala900Thr)
|
rs1555459946
|
|
|
NM_024675.4(PALB2):c.2698G>C (p.Ala900Pro)
|
rs1555459946
|
|
|
NM_024675.4(PALB2):c.2699C>G (p.Ala900Gly)
|
|
|
|
NM_024675.4(PALB2):c.2699C>T (p.Ala900Val)
|
rs730881890
|
|
|
NM_024675.4(PALB2):c.269A>G (p.Glu90Gly)
|
rs1060502807
|
|
|
NM_024675.4(PALB2):c.26T>A (p.Leu9His)
|
rs515726092
|
|
|
NM_024675.4(PALB2):c.26delinsCG (p.Leu9fs)
|
rs587781662
|
|
|
NM_024675.4(PALB2):c.2702T>C (p.Leu901Pro)
|
rs2142353922
|
|
|
NM_024675.4(PALB2):c.2702del (p.Leu901fs)
|
|
|
|
NM_024675.4(PALB2):c.2703G>A (p.Leu901=)
|
rs1278315369
|
|
|
NM_024675.4(PALB2):c.2703_2704delinsTT (p.Asp902Tyr)
|
|
|
|
NM_024675.4(PALB2):c.2706T>C (p.Asp902=)
|
rs1555459944
|
|
|
NM_024675.4(PALB2):c.2707G>C (p.Ala903Pro)
|
rs1324636666
|
|
|
NM_024675.4(PALB2):c.2711G>A (p.Trp904Ter)
|
rs1060502726
|
|
|
NM_024675.4(PALB2):c.2711_2712delinsAA (p.Trp904Ter)
|
|
|
|
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter)
|
rs587781457
|
|
|
NM_024675.4(PALB2):c.2712del (p.Trp904fs)
|
|
|
|
NM_024675.4(PALB2):c.2713C>A (p.Gln905Lys)
|
rs1555459939
|
|
|
NM_024675.4(PALB2):c.2714A>G (p.Gln905Arg)
|
|
|
|
NM_024675.4(PALB2):c.2715G>A (p.Gln905=)
|
rs1555459937
|
|
|
NM_024675.4(PALB2):c.2716T>C (p.Trp906Arg)
|
rs587782815
|
|
|
NM_024675.4(PALB2):c.2716T>G (p.Trp906Gly)
|
rs587782815
|
|
|
NM_024675.4(PALB2):c.2716del (p.Trp906fs)
|
rs1966842388
|
|
|
NM_024675.4(PALB2):c.2717G>A (p.Trp906Ter)
|
|
|
|
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)
|
rs180177122
|
|
|
NM_024675.4(PALB2):c.2719G>A (p.Glu907Lys)
|
rs1555459933
|
|
|
NM_024675.4(PALB2):c.2719del (p.Glu907fs)
|
rs1555459934
|
|
|
NM_024675.4(PALB2):c.2722A>C (p.Lys908Gln)
|
rs1966842344
|
|
|
NM_024675.4(PALB2):c.2724A>T (p.Lys908Asn)
|
rs1555459932
|
|
|
NM_024675.4(PALB2):c.2725del (p.Leu909fs)
|
|
|
|
NM_024675.4(PALB2):c.2727T>G (p.Leu909=)
|
rs1597084949
|
|
|
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)
|
rs730881869
|
|
|
NM_024675.4(PALB2):c.2728T>C (p.Tyr910His)
|
rs2142353327
|
|
|
NM_024675.4(PALB2):c.2728del (p.Tyr910fs)
|
rs730881869
|
|
|
NM_024675.4(PALB2):c.2730T>C (p.Tyr910=)
|
rs995629797
|
|
|
NM_024675.4(PALB2):c.2732C>T (p.Thr911Ile)
|
rs180177123
|
|
|
NM_024675.4(PALB2):c.2733C>A (p.Thr911=)
|
rs1555459927
|
|
|
NM_024675.4(PALB2):c.2733C>G (p.Thr911=)
|
rs1555459927
|
|
|
NM_024675.4(PALB2):c.2733C>T (p.Thr911=)
|
rs1555459927
|
|
|
NM_024675.4(PALB2):c.2734T>C (p.Trp912Arg)
|
rs1597084930
|
|
|
NM_024675.4(PALB2):c.2734T>G (p.Trp912Gly)
|
|
|
|
NM_024675.4(PALB2):c.2735G>A (p.Trp912Ter)
|
|
|
|
NM_024675.4(PALB2):c.2735_2740del (p.Trp912_His913del)
|
|
|
|
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter)
|
rs1555459925
|
|
|
NM_024675.4(PALB2):c.2736G>C (p.Trp912Cys)
|
rs1555459925
|
|
|
NM_024675.4(PALB2):c.2737C>T (p.His913Tyr)
|
rs1555459923
|
|
|
NM_024675.4(PALB2):c.2740T>A (p.Phe914Ile)
|
|
|
|
NM_024675.4(PALB2):c.2740T>C (p.Phe914Leu)
|
|
|
|
NM_024675.4(PALB2):c.2742C>A (p.Phe914Leu)
|
rs115759702
|
|
|
NM_024675.4(PALB2):c.2742del (p.Phe914fs)
|
rs1966842281
|
|
|
NM_024675.4(PALB2):c.2743dup (p.Ala915fs)
|
|
|
|
NM_024675.4(PALB2):c.2747A>G (p.Glu916Gly)
|
|
|
|
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.2748+20T>C
|
rs777746899
|
|
|
NM_024675.4(PALB2):c.2748+2T>A
|
|
|
|
NM_024675.4(PALB2):c.2748+2T>C
|
rs1060499821
|
|
|
NM_024675.4(PALB2):c.2748+7G>T
|
rs2142352787
|
|
|
NM_024675.4(PALB2):c.2748+9del
|
rs863224430
|
|
|
NM_024675.4(PALB2):c.2748G>A (p.Glu916=)
|
|
|
|
NM_024675.4(PALB2):c.2749-11_2749-7del
|
rs1966828376
|
|
|
NM_024675.4(PALB2):c.2749-13T>C
|
|
|
|
NM_024675.4(PALB2):c.2749-15C>G
|
rs1567214528
|
|
|
NM_024675.4(PALB2):c.2749-16G>T
|
|
|
|
NM_024675.4(PALB2):c.2749-16_2749-14del
|
rs765742648
|
|
|
NM_024675.4(PALB2):c.2749-17T>G
|
|
|
|
NM_024675.4(PALB2):c.2749-19G>A
|
|
|
|
NM_024675.4(PALB2):c.2749-19G>C
|
|
|
|
NM_024675.4(PALB2):c.2749-1G>A
|
rs1060502804
|
|
|
NM_024675.4(PALB2):c.2749-1G>C
|
rs1060502804
|
|
|
NM_024675.4(PALB2):c.2749-1G>T
|
rs1060502804
|
|
|
NM_024675.4(PALB2):c.2749-2A>C
|
rs1555459747
|
|
|
NM_024675.4(PALB2):c.2749-2A>G
|
rs1555459747
|
|
|
NM_024675.4(PALB2):c.2749-3T>G
|
rs2142344782
|
|
|
NM_024675.4(PALB2):c.2749-3_2749-1delinsAA
|
|
|
|
NM_024675.4(PALB2):c.2749-4T>G
|
rs1597082952
|
|
|
NM_024675.4(PALB2):c.2749-5T>G
|
|
|
|
NM_024675.4(PALB2):c.2749-8T>C
|
rs2142344832
|
|
|
NM_024675.4(PALB2):c.2749-8T>G
|
rs2142344832
|
|
|
NM_024675.4(PALB2):c.2749G>A (p.Val917Ile)
|
rs753767237
|
|
|
NM_024675.4(PALB2):c.2749G>C (p.Val917Leu)
|
|
|
|
NM_024675.4(PALB2):c.274dup (p.Thr92fs)
|
rs1567223192
|
|
|
NM_024675.4(PALB2):c.2751T>C (p.Val917=)
|
|
|
|
NM_024675.4(PALB2):c.2752C>A (p.Pro918Thr)
|
rs515726094
|
|
|
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser)
|
rs515726094
|
|
|
NM_024675.4(PALB2):c.2754A>G (p.Pro918=)
|
rs2142344640
|
|
|
NM_024675.4(PALB2):c.2755G>C (p.Val919Leu)
|
rs775193384
|
|
|
NM_024675.4(PALB2):c.2755G>T (p.Val919Leu)
|
rs775193384
|
|
|
NM_024675.4(PALB2):c.2756T>C (p.Val919Ala)
|
rs886041103
|
|
|
NM_024675.4(PALB2):c.2756T>G (p.Val919Gly)
|
rs886041103
|
|
|
NM_024675.4(PALB2):c.2757A>G (p.Val919=)
|
rs2142344557
|
|
|
NM_024675.4(PALB2):c.2758T>C (p.Leu920=)
|
|
|
|
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter)
|
rs1567214493
|
|
|
NM_024675.4(PALB2):c.2759del (p.Leu920fs)
|
|
|
|
NM_024675.4(PALB2):c.2759dup (p.Leu920fs)
|
|
|
|
NM_024675.4(PALB2):c.275C>T (p.Thr92Ile)
|
|
|
|
NM_024675.4(PALB2):c.2760dup (p.Gln921fs)
|
rs876660147
|
|
|
NM_024675.4(PALB2):c.2761C>A (p.Gln921Lys)
|
rs180177124
|
|
|
NM_024675.4(PALB2):c.2761C>T (p.Gln921Ter)
|
rs180177124
|
|
|
NM_024675.4(PALB2):c.2762A>C (p.Gln921Pro)
|
rs1966827421
|
|
|
NM_024675.4(PALB2):c.2762del (p.Gln921fs)
|
rs1567214484
|
|
|
NM_024675.4(PALB2):c.2763G>C (p.Gln921His)
|
rs372931676
|
|
|
NM_024675.4(PALB2):c.2764A>G (p.Ile922Val)
|
rs1555459736
|
|
|
NM_024675.4(PALB2):c.2765T>A (p.Ile922Lys)
|
rs1060499822
|
|
|
NM_024675.4(PALB2):c.2765T>G (p.Ile922Arg)
|
|
|
|
NM_024675.4(PALB2):c.2766A>C (p.Ile922=)
|
|
|
|
NM_024675.4(PALB2):c.2766A>G (p.Ile922Met)
|
rs1597082882
|
|
|
NM_024675.4(PALB2):c.2767G>A (p.Val923Ile)
|
|
|
|
NM_024675.4(PALB2):c.2767G>C (p.Val923Leu)
|
rs767165391
|
|
|
NM_024675.4(PALB2):c.2767G>T (p.Val923Phe)
|
rs767165391
|
|
|
NM_024675.4(PALB2):c.2767del (p.Val923fs)
|
|
|
|
NM_024675.4(PALB2):c.2768T>G (p.Val923Gly)
|
rs1597082876
|
|
|
NM_024675.4(PALB2):c.276T>A (p.Thr92=)
|
rs1555461850
|
|
|
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.2770_2773dup (p.Val925fs)
|
rs1597082866
|
|
|
NM_024675.4(PALB2):c.2771del (p.Pro924fs)
|
rs2142344237
|
|
|
NM_024675.4(PALB2):c.2773G>A (p.Val925Met)
|
rs180177125
|
|
|
NM_024675.4(PALB2):c.2773G>T (p.Val925Leu)
|
|
|
|
NM_024675.4(PALB2):c.2773del (p.Val925fs)
|
rs1597082860
|
|
|
NM_024675.4(PALB2):c.2774T>C (p.Val925Ala)
|
rs1555459734
|
|
|
NM_024675.4(PALB2):c.2775G>A (p.Val925=)
|
rs1210285949
|
|
|
NM_024675.4(PALB2):c.2776C>T (p.Pro926Ser)
|
|
|
|
NM_024675.4(PALB2):c.2777C>T (p.Pro926Leu)
|
rs1555459732
|
|
|
NM_024675.4(PALB2):c.2777_2779del (p.Pro926_Asp927delinsHis)
|
rs1966826533
|
|
|
NM_024675.4(PALB2):c.277G>A (p.Gly93Arg)
|
rs2142447132
|
|
|
NM_024675.4(PALB2):c.2780A>C (p.Asp927Ala)
|
rs62625280
|
|
|
NM_024675.4(PALB2):c.2780A>G (p.Asp927Gly)
|
rs62625280
|
|
|
NM_024675.4(PALB2):c.2781T>C (p.Asp927=)
|
rs1373766717
|
|
|
NM_024675.4(PALB2):c.2782G>C (p.Val928Leu)
|
|
|
|
NM_024675.4(PALB2):c.2785T>C (p.Tyr929His)
|
rs1966826141
|
|
|
NM_024675.4(PALB2):c.2785_2786delinsAT (p.Tyr929Ile)
|
rs1597082795
|
|
|
NM_024675.4(PALB2):c.2787T>C (p.Tyr929=)
|
rs876660669
|
|
|
NM_024675.4(PALB2):c.2787_2788del (p.Tyr929_Asn930delinsTer)
|
rs587776418
|
|
|
NM_024675.4(PALB2):c.2787_2788dup (p.Asn930fs)
|
rs587776418
|
|
|
NM_024675.4(PALB2):c.2787_2802del (p.Val928_Tyr929insTer)
|
|
|
|
NM_024675.4(PALB2):c.2788A>G (p.Asn930Asp)
|
rs1227325413
|
|
|
NM_024675.4(PALB2):c.2789A>C (p.Asn930Thr)
|
rs1966825680
|
|
|
NM_024675.4(PALB2):c.2789A>G (p.Asn930Ser)
|
rs1966825680
|
|
|
NM_024675.4(PALB2):c.278G>A (p.Gly93Glu)
|
rs761863504
|
|
|
NM_024675.4(PALB2):c.2791C>T (p.Leu931Phe)
|
rs1060502786
|
|
|
NM_024675.4(PALB2):c.2792T>C (p.Leu931Pro)
|
rs773831304
|
|
|
NM_024675.4(PALB2):c.2793C>T (p.Leu931=)
|
rs1039677524
|
|
|
NM_024675.4(PALB2):c.2795T>G (p.Val932Gly)
|
|
|
|
NM_024675.4(PALB2):c.2797T>A (p.Cys933Ser)
|
|
|
|
NM_024675.4(PALB2):c.2798G>A (p.Cys933Tyr)
|
rs730881891
|
|
|
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.2800G>C (p.Val934Leu)
|
rs370243279
|
|
|
NM_024675.4(PALB2):c.2800_2801del (p.Val934fs)
|
rs2142343437
|
|
|
NM_024675.4(PALB2):c.2800_2801dup (p.Val934_Ala935insTer)
|
|
|
|
NM_024675.4(PALB2):c.2801T>G (p.Val934Gly)
|
rs2142343417
|
|
|
NM_024675.4(PALB2):c.2801_2803dup (p.Val934dup)
|
rs878855112
|
|
|
NM_024675.4(PALB2):c.2802A>G (p.Val934=)
|
rs1555459718
|
|
|
NM_024675.4(PALB2):c.2803G>A (p.Ala935Thr)
|
|
|
|
NM_024675.4(PALB2):c.2804C>G (p.Ala935Gly)
|
rs769009609
|
|
|
NM_024675.4(PALB2):c.2804C>T (p.Ala935Val)
|
rs769009609
|
|
|
NM_024675.4(PALB2):c.2805T>G (p.Ala935=)
|
rs2142343292
|
|
|
NM_024675.4(PALB2):c.2806T>C (p.Leu936=)
|
rs2142343280
|
|
|
NM_024675.4(PALB2):c.2807T>C (p.Leu936Ser)
|
rs587780213
|
|
|
NM_024675.4(PALB2):c.2809G>A (p.Gly937Arg)
|
rs1555459712
|
|
|
NM_024675.4(PALB2):c.2809G>C (p.Gly937Arg)
|
rs1555459712
|
|
|
NM_024675.4(PALB2):c.280G>C (p.Glu94Gln)
|
rs45602040
|
|
|
NM_024675.4(PALB2):c.2810G>A (p.Gly937Glu)
|
rs786202641
|
|
|
NM_024675.4(PALB2):c.2810G>C (p.Gly937Ala)
|
|
|
|
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.2813A>G (p.Asn938Ser)
|
rs1567214357
|
|
|
NM_024675.4(PALB2):c.2815T>C (p.Leu939=)
|
rs876658742
|
|
|
NM_024675.4(PALB2):c.2815T>G (p.Leu939Val)
|
rs876658742
|
|
|
NM_024675.4(PALB2):c.2815_2822del (p.Leu939fs)
|
|
|
|
NM_024675.4(PALB2):c.2816del (p.Leu939fs)
|
|
|
|
NM_024675.4(PALB2):c.2817G>C (p.Leu939Phe)
|
rs1555459710
|
|
|
NM_024675.4(PALB2):c.2818del (p.Glu940fs)
|
rs1555459709
|
|
|
NM_024675.4(PALB2):c.2819A>G (p.Glu940Gly)
|
|
|
|
NM_024675.4(PALB2):c.2820_2821del (p.Glu940fs)
|
|
|
|
NM_024675.4(PALB2):c.2821del (p.Ile941fs)
|
|
|
|
NM_024675.4(PALB2):c.2823C>A (p.Ile941=)
|
rs515726095
|
|
|
NM_024675.4(PALB2):c.2824A>G (p.Arg942Gly)
|
rs757055720
|
|
|
NM_024675.4(PALB2):c.2826A>G (p.Arg942=)
|
rs1966823909
|
|
|
NM_024675.4(PALB2):c.2827G>A (p.Glu943Lys)
|
rs1567214295
|
|
|
NM_024675.4(PALB2):c.2827G>C (p.Glu943Gln)
|
|
|
|
NM_024675.4(PALB2):c.2827_2830del (p.Glu943fs)
|
rs1224428422
|
|
|
NM_024675.4(PALB2):c.2828A>C (p.Glu943Ala)
|
rs1555459707
|
|
|
NM_024675.4(PALB2):c.2829G>A (p.Glu943=)
|
rs1555459706
|
|
|
NM_024675.4(PALB2):c.2829G>C (p.Glu943Asp)
|
rs1555459706
|
|
|
NM_024675.4(PALB2):c.2831T>A (p.Ile944Asn)
|
rs201817103
|
|
|
NM_024675.4(PALB2):c.2832_2834+4del
|
|
|
|
NM_024675.4(PALB2):c.2832del (p.Arg945fs)
|
rs1060499823
|
|
|
NM_024675.4(PALB2):c.2833A>G (p.Arg945Gly)
|
|
|
|
NM_024675.4(PALB2):c.2834+10T>G
|
rs1555459700
|
|
|
NM_024675.4(PALB2):c.2834+11C>G
|
rs755983937
|
|
|
NM_024675.4(PALB2):c.2834+12C>T
|
rs515726096
|
|
|
NM_024675.4(PALB2):c.2834+13C>G
|
rs551516577
|
|
|
NM_024675.4(PALB2):c.2834+17G>A
|
rs1389763153
|
|
|
NM_024675.4(PALB2):c.2834+19_2834+22del
|
|
|
|
NM_024675.4(PALB2):c.2834+1G>A
|
rs587776419
|
|
|
NM_024675.4(PALB2):c.2834+1G>C
|
rs587776419
|
|
|
NM_024675.4(PALB2):c.2834+1G>T
|
rs587776419
|
|
|
NM_024675.4(PALB2):c.2834+20T>A
|
rs515726097
|
|
|
NM_024675.4(PALB2):c.2834+20T>G
|
rs515726097
|
|
|
NM_024675.4(PALB2):c.2834+21_2834+27del
|
rs515726098
|
|
|
NM_024675.4(PALB2):c.2834+2T>A
|
|
|
|
NM_024675.4(PALB2):c.2834+2T>C
|
rs864622481
|
|
|
NM_024675.4(PALB2):c.2834+2T>G
|
rs864622481
|
|
|
NM_024675.4(PALB2):c.2834+3A>G
|
rs1060502766
|
|
|
NM_024675.4(PALB2):c.2834+4T>C
|
rs982643702
|
|
|
NM_024675.4(PALB2):c.2834+7A>T
|
|
|
|
NM_024675.4(PALB2):c.2834G>C (p.Arg945Thr)
|
rs1966823330
|
|
|
NM_024675.4(PALB2):c.2835-13A>G
|
|
|
|
NM_024675.4(PALB2):c.2835-18T>C
|
rs1966806281
|
|
|
NM_024675.4(PALB2):c.2835-1G>A
|
rs515726099
|
|
|
NM_024675.4(PALB2):c.2835-1G>C
|
rs515726099
|
|
|
NM_024675.4(PALB2):c.2835-1G>T
|
|
|
|
NM_024675.4(PALB2):c.2835-22dup
|
rs1555459610
|
|
|
NM_024675.4(PALB2):c.2835-2A>C
|
rs886039613
|
|
|
NM_024675.4(PALB2):c.2835-2A>G
|
|
|
|
NM_024675.4(PALB2):c.2835-3T>C
|
rs1060502795
|
|
|
NM_024675.4(PALB2):c.2835-5C>A
|
rs1555459605
|
|
|
NM_024675.4(PALB2):c.2835-5C>G
|
rs1555459605
|
|
|
NM_024675.4(PALB2):c.2835-5C>T
|
rs1555459605
|
|
|
NM_024675.4(PALB2):c.2835-6G>T
|
rs2142338070
|
|
|
NM_024675.4(PALB2):c.2835-70_2860del
|
|
|
|
NM_024675.4(PALB2):c.2835-7G>A
|
rs1060502806
|
|
|
NM_024675.4(PALB2):c.2835-7dup
|
rs2142338086
|
|
|
NM_024675.4(PALB2):c.2835-9T>C
|
rs1597081630
|
|
|
NM_024675.4(PALB2):c.2835-9T>G
|
|
|
|
NM_024675.4(PALB2):c.2835G>A (p.Arg945=)
|
rs876659983
|
|
|
NM_024675.4(PALB2):c.2836G>A (p.Ala946Thr)
|
rs878855113
|
|
|
NM_024675.4(PALB2):c.2836G>C (p.Ala946Pro)
|
|
|
|
NM_024675.4(PALB2):c.2836G>T (p.Ala946Ser)
|
rs878855113
|
|
|
NM_024675.4(PALB2):c.2837C>G (p.Ala946Gly)
|
rs515726100
|
|
|
NM_024675.4(PALB2):c.2838A>C (p.Ala946=)
|
|
|
|
NM_024675.4(PALB2):c.2838_2842del (p.Cys949fs)
|
rs1597081571
|
|
|
NM_024675.4(PALB2):c.283A>G (p.Lys95Glu)
|
rs1597099704
|
|
|
NM_024675.4(PALB2):c.2841G>C (p.Leu947Phe)
|
rs45525135
|
|
|
NM_024675.4(PALB2):c.2842T>A (p.Phe948Ile)
|
rs1060502810
|
|
|
NM_024675.4(PALB2):c.2845del (p.Cys949fs)
|
|
|
|
NM_024675.4(PALB2):c.2846G>C (p.Cys949Ser)
|
|
|
|
NM_024675.4(PALB2):c.2847T>C (p.Cys949=)
|
rs1555459591
|
|
|
NM_024675.4(PALB2):c.2849C>T (p.Ser950Phe)
|
rs876659160
|
|
|
NM_024675.4(PALB2):c.284dup (p.Thr96fs)
|
rs1555461846
|
|
|
NM_024675.4(PALB2):c.2850C>T (p.Ser950=)
|
rs876660352
|
|
|
NM_024675.4(PALB2):c.2850del (p.Ser951fs)
|
rs1060499824
|
|
|
NM_024675.4(PALB2):c.2852C>T (p.Ser951Phe)
|
rs587782889
|
|
|
NM_024675.4(PALB2):c.2856T>G (p.Asp952Glu)
|
rs1966804681
|
|
|
NM_024675.4(PALB2):c.2857G>A (p.Asp953Asn)
|
rs1555459584
|
|
|
NM_024675.4(PALB2):c.2858A>G (p.Asp953Gly)
|
rs1555459583
|
|
|
NM_024675.4(PALB2):c.2860G>A (p.Glu954Lys)
|
rs879254015
|
|
|
NM_024675.4(PALB2):c.2860G>T (p.Glu954Ter)
|
rs879254015
|
|
|
NM_024675.4(PALB2):c.2861A>G (p.Glu954Gly)
|
rs375942535
|
|
|
NM_024675.4(PALB2):c.2863A>G (p.Ser955Gly)
|
|
|
|
NM_024675.4(PALB2):c.2865T>A (p.Ser955Arg)
|
rs515726102
|
|
|
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter)
|
rs1219715328
|
|
|
NM_024675.4(PALB2):c.2867A>G (p.Glu956Gly)
|
rs2142337289
|
|
|
NM_024675.4(PALB2):c.2868A>G (p.Glu956=)
|
|
|
|
NM_024675.4(PALB2):c.2869A>T (p.Lys957Ter)
|
rs515726103
|
|
|
NM_024675.4(PALB2):c.286A>G (p.Thr96Ala)
|
|
|
|
NM_024675.4(PALB2):c.2870A>G (p.Lys957Arg)
|
rs2142337222
|
|
|
NM_024675.4(PALB2):c.2870del (p.Lys957fs)
|
|
|
|
NM_024675.4(PALB2):c.2871G>A (p.Lys957=)
|
rs1567213833
|
|
|
NM_024675.4(PALB2):c.2872C>G (p.Gln958Glu)
|
rs1567213829
|
|
|
NM_024675.4(PALB2):c.2872C>T (p.Gln958Ter)
|
rs1567213829
|
|
|
NM_024675.4(PALB2):c.2873A>C (p.Gln958Pro)
|
rs876659693
|
|
|
NM_024675.4(PALB2):c.2874A>G (p.Gln958=)
|
rs1555459577
|
|
|
NM_024675.4(PALB2):c.2875G>T (p.Val959Leu)
|
rs1064793658
|
|
|
NM_024675.4(PALB2):c.2876T>C (p.Val959Ala)
|
rs2142337057
|
|
|
NM_024675.4(PALB2):c.2876_2877dup (p.Leu960fs)
|
rs2142337034
|
|
|
NM_024675.4(PALB2):c.2876dup (p.Leu960fs)
|
|
|
|
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.2878C>T (p.Leu960=)
|
rs1966803657
|
|
|
NM_024675.4(PALB2):c.2878del (p.Leu960fs)
|
rs1064795824
|
|
|
NM_024675.4(PALB2):c.2879T>C (p.Leu960Pro)
|
|
|
|
NM_024675.4(PALB2):c.287C>T (p.Thr96Ile)
|
rs1967057796
|
|
|
NM_024675.4(PALB2):c.2881C>A (p.Leu961Met)
|
rs61755166
|
|
|
NM_024675.4(PALB2):c.2881_2883del (p.Leu961del)
|
rs1567213797
|
|
|
NM_024675.4(PALB2):c.2882T>C (p.Leu961Pro)
|
rs786203248
|
|
|
NM_024675.4(PALB2):c.2887T>C (p.Ser963Pro)
|
rs2142336778
|
|
|
NM_024675.4(PALB2):c.2888_2902delinsA (p.Ser963fs)
|
|
|
|
NM_024675.4(PALB2):c.288A>C (p.Thr96=)
|
rs878855114
|
|
|
NM_024675.4(PALB2):c.288A>G (p.Thr96=)
|
rs878855114
|
|
|
NM_024675.4(PALB2):c.2890G>A (p.Gly964Arg)
|
rs587781280
|
|
|
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.2894A>C (p.Asn965Thr)
|
|
|
|
NM_024675.4(PALB2):c.2895T>C (p.Asn965=)
|
rs1555459569
|
|
|
NM_024675.4(PALB2):c.2896A>T (p.Ile966Leu)
|
rs786204248
|
|
|
NM_024675.4(PALB2):c.2897T>A (p.Ile966Lys)
|
rs587780214
|
|
|
NM_024675.4(PALB2):c.2897T>G (p.Ile966Arg)
|
rs587780214
|
|
|
NM_024675.4(PALB2):c.2899A>C (p.Lys967Gln)
|
rs864622525
|
|
|
NM_024675.4(PALB2):c.2899A>G (p.Lys967Glu)
|
rs864622525
|
|
|
NM_024675.4(PALB2):c.289T>C (p.Ser97Pro)
|
rs1456296764
|
|
|
NM_024675.4(PALB2):c.2901A>G (p.Lys967=)
|
rs1057523633
|
|
|
NM_024675.4(PALB2):c.2902G>A (p.Ala968Thr)
|
rs786202813
|
|
|
NM_024675.4(PALB2):c.2903C>T (p.Ala968Val)
|
rs369132015
|
|
|
NM_024675.4(PALB2):c.2904T>C (p.Ala968=)
|
rs876658818
|
|
|
NM_024675.4(PALB2):c.2904T>G (p.Ala968=)
|
rs876658818
|
|
|
NM_024675.4(PALB2):c.2906T>A (p.Val969Glu)
|
rs1555459561
|
|
|
NM_024675.4(PALB2):c.2907G>A (p.Val969=)
|
rs1555459560
|
|
|
NM_024675.4(PALB2):c.2909T>C (p.Leu970Pro)
|
rs2142336251
|
|
|
NM_024675.4(PALB2):c.290C>T (p.Ser97Phe)
|
rs776902295
|
|
|
NM_024675.4(PALB2):c.290dup (p.Ile98fs)
|
rs1967057527
|
|
|
NM_024675.4(PALB2):c.2910T>C (p.Leu970=)
|
rs1555459558
|
|
|
NM_024675.4(PALB2):c.2911G>C (p.Gly971Arg)
|
rs1555459556
|
|
|
NM_024675.4(PALB2):c.2912G>T (p.Gly971Val)
|
rs1060502754
|
|
|
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.2915T>C (p.Leu972Pro)
|
rs1064795021
|
|
|
NM_024675.4(PALB2):c.2915del (p.Leu972fs)
|
rs1555459553
|
|
|
NM_024675.4(PALB2):c.2916G>A (p.Leu972=)
|
|
|
|
NM_024675.4(PALB2):c.2917A>G (p.Thr973Ala)
|
rs876658154
|
|
|
NM_024675.4(PALB2):c.2918C>A (p.Thr973Lys)
|
rs1465745143
|
|
|
NM_024675.4(PALB2):c.2918C>T (p.Thr973Ile)
|
rs1465745143
|
|
|
NM_024675.4(PALB2):c.2919A>G (p.Thr973=)
|
rs876659945
|
|
|
NM_024675.4(PALB2):c.2919A>T (p.Thr973=)
|
rs876659945
|
|
|
NM_024675.4(PALB2):c.2919_2920insG (p.Lys974fs)
|
|
|
|
NM_024675.4(PALB2):c.291T>G (p.Ser97=)
|
rs2142446803
|
|
|
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)
|
rs180177126
|
|
|
NM_024675.4(PALB2):c.2920_2923del (p.Lys974fs)
|
rs786204122
|
|
|
NM_024675.4(PALB2):c.2922G>C (p.Lys974Asn)
|
rs730881892
|
|
|
NM_024675.4(PALB2):c.2923_2924del (p.Arg975fs)
|
rs1966801432
|
|
|
NM_024675.4(PALB2):c.2924G>T (p.Arg975Met)
|
rs2142335927
|
|
|
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.2930T>C (p.Leu977Pro)
|
rs1060499825
|
|
|
NM_024675.4(PALB2):c.2931A>G (p.Leu977=)
|
rs2142335769
|
|
|
NM_024675.4(PALB2):c.2931dup (p.Val978fs)
|
rs587782570
|
|
|
NM_024675.4(PALB2):c.2932G>A (p.Val978Ile)
|
rs1966801130
|
|
|
NM_024675.4(PALB2):c.2934TAG[1] (p.Ser981del)
|
rs1555459539
|
|
|
NM_024675.4(PALB2):c.2936G>A (p.Ser979Asn)
|
|
|
|
NM_024675.4(PALB2):c.2936del (p.Ser979fs)
|
rs1060502781
|
|
|
NM_024675.4(PALB2):c.2938A>C (p.Ser980Arg)
|
|
|
|
NM_024675.4(PALB2):c.2938del (p.Ser980fs)
|
rs1555459540
|
|
|
NM_024675.4(PALB2):c.293dup (p.Thr99fs)
|
rs1967057228
|
|
|
NM_024675.4(PALB2):c.2940C>T (p.Ser980=)
|
rs766049739
|
|
|
NM_024675.4(PALB2):c.2941A>C (p.Ser981Arg)
|
rs1460156504
|
|
|
NM_024675.4(PALB2):c.2941A>G (p.Ser981Gly)
|
rs1460156504
|
|
|
NM_024675.4(PALB2):c.2942G>A (p.Ser981Asn)
|
rs1597081224
|
|
|
NM_024675.4(PALB2):c.2942G>T (p.Ser981Ile)
|
rs1597081224
|
|
|
NM_024675.4(PALB2):c.2943T>C (p.Ser981=)
|
rs775585445
|
|
|
NM_024675.4(PALB2):c.2943T>G (p.Ser981Arg)
|
rs775585445
|
|
|
NM_024675.4(PALB2):c.2946G>T (p.Gly982=)
|
rs1060502731
|
|
|
NM_024675.4(PALB2):c.2947A>T (p.Thr983Ser)
|
rs587782211
|
|
|
NM_024675.4(PALB2):c.2949C>T (p.Thr983=)
|
rs1250153779
|
|
|
NM_024675.4(PALB2):c.294C>G (p.Ile98Met)
|
rs1060502730
|
|
|
NM_024675.4(PALB2):c.2950C>T (p.Leu984Phe)
|
|
|
|
NM_024675.4(PALB2):c.2950del (p.Leu984fs)
|
rs1966800194
|
|
|
NM_024675.4(PALB2):c.2953del (p.Ser985fs)
|
rs1597081202
|
|
|
NM_024675.4(PALB2):c.2955T>C (p.Ser985=)
|
rs765643734
|
|
|
NM_024675.4(PALB2):c.2957A>C (p.Asp986Ala)
|
rs2142335218
|
|
|
NM_024675.4(PALB2):c.2957A>T (p.Asp986Val)
|
|
|
|
NM_024675.4(PALB2):c.2959_2966dup (p.Glu990fs)
|
rs875989792
|
|
|
NM_024675.4(PALB2):c.295dup (p.Thr99fs)
|
|
|
|
NM_024675.4(PALB2):c.2961A>G (p.Gln987=)
|
rs1555459530
|
|
|
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)
|
rs118203999
|
|
|
NM_024675.4(PALB2):c.2962_2963del (p.Gln988fs)
|
rs1555459528
|
|
|
NM_024675.4(PALB2):c.2963A>C (p.Gln988Pro)
|
rs1966799521
|
|
|
NM_024675.4(PALB2):c.2964A>G (p.Gln988=)
|
rs777244673
|
|
|
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)
|
rs587781840
|
|
|
NM_024675.4(PALB2):c.2966_2968del (p.Val989del)
|
rs1555459526
|
|
|
NM_024675.4(PALB2):c.2966del (p.Val989fs)
|
rs2142334934
|
|
|
NM_024675.4(PALB2):c.2966dup (p.Glu990fs)
|
rs2142334914
|
|
|
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)
|
rs876659036
|
|
|
NM_024675.4(PALB2):c.296C>T (p.Thr99Ile)
|
rs1967056981
|
|
|
NM_024675.4(PALB2):c.2970A>G (p.Glu990=)
|
rs2142334792
|
|
|
NM_024675.4(PALB2):c.2972T>C (p.Val991Ala)
|
rs1064796208
|
|
|
NM_024675.4(PALB2):c.2973C>T (p.Val991=)
|
rs2142334725
|
|
|
NM_024675.4(PALB2):c.2974A>G (p.Met992Val)
|
rs1555459522
|
|
|
NM_024675.4(PALB2):c.2974_2975del (p.Met992fs)
|
rs1966798806
|
|
|
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs)
|
rs1555459520
|
|
|
NM_024675.4(PALB2):c.2975T>A (p.Met992Lys)
|
rs1597081111
|
|
|
NM_024675.4(PALB2):c.2975T>C (p.Met992Thr)
|
rs1597081111
|
|
|
NM_024675.4(PALB2):c.2978_2994del (p.Thr993fs)
|
|
|
|
NM_024675.4(PALB2):c.297A>G (p.Thr99=)
|
rs1057523513
|
|
|
NM_024675.4(PALB2):c.2981T>C (p.Phe994Ser)
|
rs876659645
|
|
|
NM_024675.4(PALB2):c.2982T>A (p.Phe994Leu)
|
rs1555459516
|
|
|
NM_024675.4(PALB2):c.2982dup (p.Ala995fs)
|
rs180177127
|
|
|
NM_024675.4(PALB2):c.2983G>A (p.Ala995Thr)
|
rs2142334456
|
|
|
NM_024675.4(PALB2):c.2983G>T (p.Ala995Ser)
|
rs2142334456
|
|
|
NM_024675.4(PALB2):c.2984C>G (p.Ala995Gly)
|
|
|
|
NM_024675.4(PALB2):c.2984C>T (p.Ala995Val)
|
rs1567213581
|
|
|
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)
|
rs786203775
|
|
|
NM_024675.4(PALB2):c.298C>G (p.Leu100Val)
|
rs61756147
|
|
|
NM_024675.4(PALB2):c.298del (p.Asp101fs)
|
|
|
|
NM_024675.4(PALB2):c.2990A>T (p.Asp997Val)
|
|
|
|
NM_024675.4(PALB2):c.2992G>T (p.Gly998Ter)
|
|
|
|
NM_024675.4(PALB2):c.2993G>C (p.Gly998Ala)
|
rs45551636
|
|
|
NM_024675.4(PALB2):c.2994A>C (p.Gly998=)
|
|
|
|
NM_024675.4(PALB2):c.2994del (p.Gly999fs)
|
|
|
|
NM_024675.4(PALB2):c.2995G>T (p.Gly999Ter)
|
|
|
|
NM_024675.4(PALB2):c.2996+10G>A
|
rs773023007
|
|
|
NM_024675.4(PALB2):c.2996+10G>C
|
rs773023007
|
|
|
NM_024675.4(PALB2):c.2996+11C>T
|
|
|
|
NM_024675.4(PALB2):c.2996+13T>C
|
rs2142334023
|
|
|
NM_024675.4(PALB2):c.2996+14T>A
|
|
|
|
NM_024675.4(PALB2):c.2996+14T>C
|
|
|
|
NM_024675.4(PALB2):c.2996+14T>G
|
rs1407045774
|
|
|
NM_024675.4(PALB2):c.2996+16A>G
|
|
|
|
NM_024675.4(PALB2):c.2996+18T>C
|
|
|
|
NM_024675.4(PALB2):c.2996+1G>T
|
rs886039626
|
|
|
NM_024675.4(PALB2):c.2996+2T>C
|
rs1966797789
|
|
|
NM_024675.4(PALB2):c.2996+3A>G
|
rs876659931
|
|
|
NM_024675.4(PALB2):c.2996+58T>C
|
rs180177129
|
|
|
NM_024675.4(PALB2):c.2996+5G>T
|
rs879254193
|
|
|
NM_024675.4(PALB2):c.2996+8A>C
|
rs2142334083
|
|
|
NM_024675.4(PALB2):c.2996+8A>G
|
rs2142334083
|
|
|
NM_024675.4(PALB2):c.2996+9del
|
rs769414858
|
|
|
NM_024675.4(PALB2):c.2996G>A (p.Gly999Glu)
|
rs1597081049
|
|
|
NM_024675.4(PALB2):c.2996G>C (p.Gly999Ala)
|
rs1597081049
|
|
|
NM_024675.4(PALB2):c.2997-10_2997-9insA
|
|
|
|
NM_024675.4(PALB2):c.2997-13G>A
|
|
|
|
NM_024675.4(PALB2):c.2997-14T>C
|
|
|
|
NM_024675.4(PALB2):c.2997-15C>A
|
rs1966773679
|
|
|
NM_024675.4(PALB2):c.2997-16A>G
|
|
|
|
NM_024675.4(PALB2):c.2997-18A>C
|
rs750052146
|
|
|
NM_024675.4(PALB2):c.2997-18A>G
|
rs750052146
|
|
|
NM_024675.4(PALB2):c.2997-18del
|
|
|
|
NM_024675.4(PALB2):c.2997-1G>A
|
rs754465466
|
|
|
NM_024675.4(PALB2):c.2997-1G>C
|
|
|
|
NM_024675.4(PALB2):c.2997-20dup
|
|
|
|
NM_024675.4(PALB2):c.2997-2A>C
|
rs1555459421
|
|
|
NM_024675.4(PALB2):c.2997-2A>G
|
|
|
|
NM_024675.4(PALB2):c.2997-3C>G
|
rs1966773531
|
|
|
NM_024675.4(PALB2):c.2997-7_2997-6del
|
|
|
|
NM_024675.4(PALB2):c.2998G>A (p.Gly1000Ser)
|
rs1966773345
|
|
|
NM_024675.4(PALB2):c.2998G>C (p.Gly1000Arg)
|
rs1966773345
|
|
|
NM_024675.4(PALB2):c.2999G>A (p.Gly1000Asp)
|
rs1597079946
|
|
|
NM_024675.4(PALB2):c.2999G>T (p.Gly1000Val)
|
rs1597079946
|
|
|
NM_024675.4(PALB2):c.2999_3001delinsAC (p.Gly1000fs)
|
rs1597079941
|
|
|
NM_024675.4(PALB2):c.2999del (p.Gly1000fs)
|
rs1966773290
|
|
|
NM_024675.4(PALB2):c.299T>G (p.Leu100Arg)
|
rs1597099643
|
|
|
NM_024675.4(PALB2):c.29G>T (p.Ser10Ile)
|
rs876659643
|
|
|
NM_024675.4(PALB2):c.2T>C (p.Met1Thr)
|
rs756519825
|
|
|
NM_024675.4(PALB2):c.2T>G (p.Met1Arg)
|
|
|
|
NM_024675.4(PALB2):c.3003del (p.Glu1002fs)
|
|
|
|
NM_024675.4(PALB2):c.3004G>T (p.Glu1002Ter)
|
|
|
|
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs)
|
rs786203488
|
|
|
NM_024675.4(PALB2):c.3004_3008del (p.Glu1002fs)
|
|
|
|
NM_024675.4(PALB2):c.3008_3009delinsTTACAGAGG (p.Asn1003fs)
|
|
|
|
NM_024675.4(PALB2):c.3008del (p.Asn1003fs)
|
rs1567213009
|
|
|
NM_024675.4(PALB2):c.3008dup (p.Asn1003fs)
|
rs1567213009
|
|
|
NM_024675.4(PALB2):c.3009C>A (p.Asn1003Lys)
|
|
|
|
NM_024675.4(PALB2):c.3009C>T (p.Asn1003=)
|
rs1555459417
|
|
|
NM_024675.4(PALB2):c.300T>C (p.Leu100=)
|
|
|
|
NM_024675.4(PALB2):c.3010C>T (p.Gln1004Ter)
|
|
|
|
NM_024675.4(PALB2):c.3011A>C (p.Gln1004Pro)
|
rs1555459415
|
|
|
NM_024675.4(PALB2):c.3013T>A (p.Phe1005Ile)
|
rs1555459414
|
|
|
NM_024675.4(PALB2):c.3015T>C (p.Phe1005=)
|
|
|
|
NM_024675.4(PALB2):c.3016T>C (p.Leu1006=)
|
rs1447096272
|
|
|
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)
|
rs886039683
|
|
|
NM_024675.4(PALB2):c.3017dup (p.Leu1006fs)
|
|
|
|
NM_024675.4(PALB2):c.3018G>A (p.Leu1006=)
|
rs1597079904
|
|
|
NM_024675.4(PALB2):c.3018G>T (p.Leu1006Phe)
|
rs1597079904
|
|
|
NM_024675.4(PALB2):c.3019A>G (p.Met1007Val)
|
rs2142328121
|
|
|
NM_024675.4(PALB2):c.3019A>T (p.Met1007Leu)
|
|
|
|
NM_024675.4(PALB2):c.301G>A (p.Asp101Asn)
|
|
|
|
NM_024675.4(PALB2):c.301G>C (p.Asp101His)
|
rs794727654
|
|
|
NM_024675.4(PALB2):c.3021G>T (p.Met1007Ile)
|
rs1443207976
|
|
|
NM_024675.4(PALB2):c.3022C>A (p.Pro1008Thr)
|
rs1555459407
|
|
|
NM_024675.4(PALB2):c.3022C>T (p.Pro1008Ser)
|
rs1555459407
|
|
|
NM_024675.4(PALB2):c.3023C>G (p.Pro1008Arg)
|
|
|
|
NM_024675.4(PALB2):c.3023C>T (p.Pro1008Leu)
|
rs1060502736
|
|
|
NM_024675.4(PALB2):c.3024C>G (p.Pro1008=)
|
rs180177130
|
|
|
NM_024675.4(PALB2):c.3026C>T (p.Pro1009Leu)
|
rs552354535
|
|
|
NM_024675.4(PALB2):c.3026_3027insA (p.Pro1009_Glu1010insTer)
|
|
|
|
NM_024675.4(PALB2):c.3026del (p.Pro1009fs)
|
rs180177131
|
|
|
NM_024675.4(PALB2):c.3027T>C (p.Pro1009=)
|
rs876659376
|
|
|
NM_024675.4(PALB2):c.3027del (p.Glu1010fs)
|
rs876659378
|
|
|
NM_024675.4(PALB2):c.3028G>T (p.Glu1010Ter)
|
rs1966771907
|
|
|
NM_024675.4(PALB2):c.3029A>C (p.Glu1010Ala)
|
rs1228569190
|
|
|
NM_024675.4(PALB2):c.3030G>C (p.Glu1010Asp)
|
|
|
|
NM_024675.4(PALB2):c.3031G>A (p.Glu1011Lys)
|
rs1302512878
|
|
|
NM_024675.4(PALB2):c.3031_3046del (p.Glu1011fs)
|
|
|
|
NM_024675.4(PALB2):c.3032A>T (p.Glu1011Val)
|
rs1597079845
|
|
|
NM_024675.4(PALB2):c.3034A>C (p.Thr1012Pro)
|
rs1966771666
|
|
|
NM_024675.4(PALB2):c.3035C>G (p.Thr1012Ser)
|
rs761032954
|
|
|
NM_024675.4(PALB2):c.3036T>G (p.Thr1012=)
|
rs1597079832
|
|
|
NM_024675.4(PALB2):c.3037A>G (p.Ile1013Val)
|
rs1567212950
|
|
|
NM_024675.4(PALB2):c.3038_3039del (p.Ile1013fs)
|
rs1597079810
|
|
|
NM_024675.4(PALB2):c.3039A>G (p.Ile1013Met)
|
|
|
|
NM_024675.4(PALB2):c.3040C>A (p.Leu1014Ile)
|
rs1966771258
|
|
|
NM_024675.4(PALB2):c.3041T>C (p.Leu1014Pro)
|
rs876659554
|
|
|
NM_024675.4(PALB2):c.3041dup (p.Thr1015fs)
|
rs1966771199
|
|
|
NM_024675.4(PALB2):c.3043A>C (p.Thr1015Pro)
|
rs1966771031
|
|
|
NM_024675.4(PALB2):c.3044C>A (p.Thr1015Asn)
|
rs367840862
|
|
|
NM_024675.4(PALB2):c.3044C>G (p.Thr1015Ser)
|
rs367840862
|
|
|
NM_024675.4(PALB2):c.3047T>C (p.Phe1016Ser)
|
rs879254154
|
|
|
NM_024675.4(PALB2):c.3047T>G (p.Phe1016Cys)
|
rs879254154
|
|
|
NM_024675.4(PALB2):c.3048T>C (p.Phe1016=)
|
|
|
|
NM_024675.4(PALB2):c.3048T>G (p.Phe1016Leu)
|
rs1567212918
|
|
|
NM_024675.4(PALB2):c.3048del (p.Phe1016fs)
|
rs515726104
|
|
|
NM_024675.4(PALB2):c.3048dup (p.Ala1017fs)
|
|
|
|
NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr)
|
rs759795184
|
|
|
NM_024675.4(PALB2):c.3049G>C (p.Ala1017Pro)
|
rs759795184
|
|
|
NM_024675.4(PALB2):c.3049G>T (p.Ala1017Ser)
|
|
|
|
NM_024675.4(PALB2):c.3050C>G (p.Ala1017Gly)
|
rs2142327332
|
|
|
NM_024675.4(PALB2):c.3050dup (p.Ala1017_Glu1018insTer)
|
|
|
|
NM_024675.4(PALB2):c.3051T>G (p.Ala1017=)
|
|
|
|
NM_024675.4(PALB2):c.3052del (p.Glu1018fs)
|
rs2142327301
|
|
|
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.3056T>A (p.Val1019Asp)
|
|
|
|
NM_024675.4(PALB2):c.3057C>A (p.Val1019=)
|
rs2142327149
|
|
|
NM_024675.4(PALB2):c.3057C>G (p.Val1019=)
|
|
|
|
NM_024675.4(PALB2):c.3057C>T (p.Val1019=)
|
rs2142327149
|
|
|
NM_024675.4(PALB2):c.3058C>T (p.Gln1020Ter)
|
rs2142327117
|
|
|
NM_024675.4(PALB2):c.3058_3069dup (p.Gln1020_Gln1023dup)
|
rs1597079690
|
|
|
NM_024675.4(PALB2):c.305T>C (p.Val102Ala)
|
rs1313838988
|
|
|
NM_024675.4(PALB2):c.3060A>G (p.Gln1020=)
|
rs1555459389
|
|
|
NM_024675.4(PALB2):c.3062G>A (p.Gly1021Glu)
|
rs1597079719
|
|
|
NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs)
|
rs1597079711
|
|
|
NM_024675.4(PALB2):c.3064A>G (p.Met1022Val)
|
rs1060502792
|
|
|
NM_024675.4(PALB2):c.3066G>A (p.Met1022Ile)
|
rs1220966608
|
|
|
NM_024675.4(PALB2):c.3066G>C (p.Met1022Ile)
|
rs1220966608
|
|
|
NM_024675.4(PALB2):c.3066G>T (p.Met1022Ile)
|
rs1220966608
|
|
|
NM_024675.4(PALB2):c.3066_3067delinsAT (p.Met1022_Gln1023delinsIleTer)
|
|
|
|
NM_024675.4(PALB2):c.3069A>G (p.Gln1023=)
|
rs786201363
|
|
|
NM_024675.4(PALB2):c.306del (p.Pro104fs)
|
|
|
|
NM_024675.4(PALB2):c.3070del (p.Glu1024fs)
|
rs2142326815
|
|
|
NM_024675.4(PALB2):c.3071A>T (p.Glu1024Val)
|
|
|
|
NM_024675.4(PALB2):c.3072del (p.Ala1025fs)
|
|
|
|
NM_024675.4(PALB2):c.3074C>T (p.Ala1025Val)
|
rs1555459378
|
|
|
NM_024675.4(PALB2):c.3074dup (p.Leu1026fs)
|
|
|
|
NM_024675.4(PALB2):c.3076C>T (p.Leu1026=)
|
rs1555459377
|
|
|
NM_024675.4(PALB2):c.3077dup (p.Leu1027fs)
|
|
|
|
NM_024675.4(PALB2):c.3078G>A (p.Leu1026=)
|
rs1555459373
|
|
|
NM_024675.4(PALB2):c.3079C>T (p.Leu1027Phe)
|
rs1966769057
|
|
|
NM_024675.4(PALB2):c.307G>C (p.Gly103Arg)
|
|
|
|
NM_024675.4(PALB2):c.3080T>C (p.Leu1027Pro)
|
rs2142326618
|
|
|
NM_024675.4(PALB2):c.3080T>G (p.Leu1027Arg)
|
|
|
|
NM_024675.4(PALB2):c.3081del (p.Gly1028fs)
|
rs2142326602
|
|
|
NM_024675.4(PALB2):c.3082G>C (p.Gly1028Arg)
|
|
|
|
NM_024675.4(PALB2):c.3082G>T (p.Gly1028Cys)
|
|
|
|
NM_024675.4(PALB2):c.3083G>A (p.Gly1028Asp)
|
rs779642624
|
|
|
NM_024675.4(PALB2):c.3083G>T (p.Gly1028Val)
|
rs779642624
|
|
|
NM_024675.4(PALB2):c.3083_3084insGCTCTGCTTGGGTGCCGGCGAGCGCCGCCTGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGGCAAGGAGCAGCCGCCTGNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAA (p.Gly1028_Thr1029insLeuCysLeuGlyAlaGlyGluArgArgLeuGlyGlySerGlyTrpArgSerGlyArgAlaProArgGlyProArgAlaArgSerSerArgLeuXaaXaaXaaXaaXaaLysLysLysLysLysLysLysAsn)
|
rs2142326522
|
|
|
NM_024675.4(PALB2):c.3084T>C (p.Gly1028=)
|
|
|
|
NM_024675.4(PALB2):c.3085A>G (p.Thr1029Ala)
|
rs1567212837
|
|
|
NM_024675.4(PALB2):c.3086C>T (p.Thr1029Ile)
|
rs1966768882
|
|
|
NM_024675.4(PALB2):c.3086CTA[1] (p.Thr1030del)
|
|
|
|
NM_024675.4(PALB2):c.3087T>A (p.Thr1029=)
|
rs2142326440
|
|
|
NM_024675.4(PALB2):c.3087T>C (p.Thr1029=)
|
|
|
|
NM_024675.4(PALB2):c.3088A>G (p.Thr1030Ala)
|
rs1040452708
|
|
|
NM_024675.4(PALB2):c.3089C>A (p.Thr1030Asn)
|
rs876660109
|
|
|
NM_024675.4(PALB2):c.3089C>T (p.Thr1030Ile)
|
rs876660109
|
|
|
NM_024675.4(PALB2):c.308G>A (p.Gly103Glu)
|
rs876660794
|
|
|
NM_024675.4(PALB2):c.3092T>C (p.Ile1031Thr)
|
rs1966768570
|
|
|
NM_024675.4(PALB2):c.3094A>G (p.Met1032Val)
|
rs1555459367
|
|
|
NM_024675.4(PALB2):c.3094A>T (p.Met1032Leu)
|
rs1555459367
|
|
|
NM_024675.4(PALB2):c.3095T>G (p.Met1032Arg)
|
rs745562326
|
|
|
NM_024675.4(PALB2):c.3096G>C (p.Met1032Ile)
|
rs778705498
|
|
|
NM_024675.4(PALB2):c.3099C>A (p.Asn1033Lys)
|
rs1057523064
|
|
|
NM_024675.4(PALB2):c.30C>G (p.Ser10Arg)
|
rs758500749
|
|
|
NM_024675.4(PALB2):c.3100_3101insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA (p.Asn1033_Asn1034insArgIleThrValAsnHisSerPheLeuLeuPhePheMetAsn)
|
rs1966768242
|
|
|
NM_024675.4(PALB2):c.3101A>G (p.Asn1034Ser)
|
rs2142326183
|
|
|
NM_024675.4(PALB2):c.3103A>T (p.Ile1035Phe)
|
rs863224783
|
|
|
NM_024675.4(PALB2):c.3104T>C (p.Ile1035Thr)
|
rs1555459362
|
|
|
NM_024675.4(PALB2):c.3105del (p.Ile1035fs)
|
|
|
|
NM_024675.4(PALB2):c.3107T>C (p.Val1036Ala)
|
rs1555459357
|
|
|
NM_024675.4(PALB2):c.3107T>G (p.Val1036Gly)
|
|
|
|
NM_024675.4(PALB2):c.3108T>A (p.Val1036=)
|
rs2142326024
|
|
|
NM_024675.4(PALB2):c.3108_3112del (p.Ile1037fs)
|
rs2142325956
|
|
|
NM_024675.4(PALB2):c.3108dup (p.Ile1037fs)
|
|
|
|
NM_024675.4(PALB2):c.3109A>G (p.Ile1037Val)
|
rs1966767854
|
|
|
NM_024675.4(PALB2):c.310C>G (p.Pro104Ala)
|
|
|
|
NM_024675.4(PALB2):c.310C>T (p.Pro104Ser)
|
rs1967055763
|
|
|
NM_024675.4(PALB2):c.3110T>C (p.Ile1037Thr)
|
rs1555459356
|
|
|
NM_024675.4(PALB2):c.3111T>C (p.Ile1037=)
|
rs876660903
|
|
|
NM_024675.4(PALB2):c.3113+10_3113+15del
|
rs2142325775
|
|
|
NM_024675.4(PALB2):c.3113+12C>G
|
rs1057523380
|
|
|
NM_024675.4(PALB2):c.3113+14C>T
|
rs2142325783
|
|
|
NM_024675.4(PALB2):c.3113+15_3113+32del
|
|
|
|
NM_024675.4(PALB2):c.3113+17G>A
|
|
|
|
NM_024675.4(PALB2):c.3113+1G>A
|
rs1597079557
|
|
|
NM_024675.4(PALB2):c.3113+1G>C
|
|
|
|
NM_024675.4(PALB2):c.3113+5G>A
|
rs876659463
|
|
|
NM_024675.4(PALB2):c.3113+6C>A
|
|
|
|
NM_024675.4(PALB2):c.3113+8T>C
|
|
|
|
NM_024675.4(PALB2):c.3113+9T>G
|
rs2142325832
|
|
|
NM_024675.4(PALB2):c.3113G>C (p.Trp1038Ser)
|
|
|
|
NM_024675.4(PALB2):c.3114-10G>C
|
|
|
|
NM_024675.4(PALB2):c.3114-12T>A
|
|
|
|
NM_024675.4(PALB2):c.3114-14T>C
|
|
|
|
NM_024675.4(PALB2):c.3114-15T>C
|
rs2142300467
|
|
|
NM_024675.4(PALB2):c.3114-15T>G
|
|
|
|
NM_024675.4(PALB2):c.3114-16A>T
|
rs778244808
|
|
|
NM_024675.4(PALB2):c.3114-1G>A
|
rs886039619
|
|
|
NM_024675.4(PALB2):c.3114-239A>T
|
|
|
|
NM_024675.4(PALB2):c.3114-2A>G
|
|
|
|
NM_024675.4(PALB2):c.3114-3511_3201+191del
|
|
|
|
NM_024675.4(PALB2):c.3114-3A>G
|
rs1060502784
|
|
|
NM_024675.4(PALB2):c.3114-4T>A
|
|
|
|
NM_024675.4(PALB2):c.3114-57_3120del
|
|
|
|
NM_024675.4(PALB2):c.3114-6T>A
|
|
|
|
NM_024675.4(PALB2):c.3114-6T>C
|
rs1064794886
|
|
|
NM_024675.4(PALB2):c.3114-7A>T
|
rs1597073440
|
|
|
NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter)
|
rs778345761
|
|
|
NM_024675.4(PALB2):c.3116A>C (p.Asn1039Thr)
|
rs1555458829
|
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
|
NM_024675.4(PALB2):c.3119T>A (p.Leu1040Ter)
|
|
|
|
NM_024675.4(PALB2):c.3119T>G (p.Leu1040Ter)
|
|
|
|
NM_024675.4(PALB2):c.311C>T (p.Pro104Leu)
|
rs1555461835
|
|
|
NM_024675.4(PALB2):c.3121A>G (p.Lys1041Glu)
|
rs1175812630
|
|
|
NM_024675.4(PALB2):c.3122A>C (p.Lys1041Thr)
|
rs781663559
|
|
|
NM_024675.4(PALB2):c.3124dup (p.Thr1042fs)
|
rs1555458828
|
|
|
NM_024675.4(PALB2):c.3126T>C (p.Thr1042=)
|
|
|
|
NM_024675.4(PALB2):c.3126T>G (p.Thr1042=)
|
rs566549034
|
|
|
NM_024675.4(PALB2):c.3126del (p.Gly1043fs)
|
rs1966637056
|
|
|
NM_024675.4(PALB2):c.3127G>A (p.Gly1043Ser)
|
rs2142300078
|
|
|
NM_024675.4(PALB2):c.3128G>T (p.Gly1043Val)
|
|
|
|
NM_024675.4(PALB2):c.3129T>G (p.Gly1043=)
|
rs1567209919
|
|
|
NM_024675.4(PALB2):c.3129dup (p.Gln1044fs)
|
rs1567209922
|
|
|
NM_024675.4(PALB2):c.3130C>A (p.Gln1044Lys)
|
rs766394024
|
|
|
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter)
|
rs766394024
|
|
|
NM_024675.4(PALB2):c.3132A>C (p.Gln1044His)
|
rs587780216
|
|
|
NM_024675.4(PALB2):c.3132A>G (p.Gln1044=)
|
rs587780216
|
|
|
NM_024675.4(PALB2):c.3132A>T (p.Gln1044His)
|
rs587780216
|
|
|
NM_024675.4(PALB2):c.3136C>T (p.Leu1046=)
|
rs750579753
|
|
|
NM_024675.4(PALB2):c.3137T>A (p.Leu1046Gln)
|
|
|
|
NM_024675.4(PALB2):c.3138G>A (p.Leu1046=)
|
rs1555458824
|
|
|
NM_024675.4(PALB2):c.3139A>G (p.Lys1047Glu)
|
|
|
|
NM_024675.4(PALB2):c.3139A>T (p.Lys1047Ter)
|
|
|
|
NM_024675.4(PALB2):c.313G>T (p.Glu105Ter)
|
|
|
|
NM_024675.4(PALB2):c.3141A>G (p.Lys1047=)
|
rs2142299817
|
|
|
NM_024675.4(PALB2):c.3143A>G (p.Lys1048Arg)
|
rs515726107
|
|
|
NM_024675.4(PALB2):c.3143del (p.Lys1048fs)
|
rs1555458822
|
|
|
NM_024675.4(PALB2):c.3144G>A (p.Lys1048=)
|
|
|
|
NM_024675.4(PALB2):c.3146T>G (p.Met1049Arg)
|
rs138273800
|
|
|
NM_024675.4(PALB2):c.3148C>T (p.His1050Tyr)
|
rs2142299692
|
|
|
NM_024675.4(PALB2):c.314_315del (p.Glu105fs)
|
rs1967055393
|
|
|
NM_024675.4(PALB2):c.3150C>T (p.His1050=)
|
|
|
|
NM_024675.4(PALB2):c.3150_3151del (p.His1050_Ile1051insTer)
|
|
|
|
NM_024675.4(PALB2):c.3151A>G (p.Ile1051Val)
|
rs1060502745
|
|
|
NM_024675.4(PALB2):c.3152T>C (p.Ile1051Thr)
|
rs760373091
|
|
|
NM_024675.4(PALB2):c.3153T>C (p.Ile1051=)
|
rs1168676309
|
|
|
NM_024675.4(PALB2):c.3153T>G (p.Ile1051Met)
|
rs1168676309
|
|
|
NM_024675.4(PALB2):c.3154G>C (p.Asp1052His)
|
|
|
|
NM_024675.4(PALB2):c.3155A>T (p.Asp1052Val)
|
rs775290401
|
|
|
NM_024675.4(PALB2):c.3156T>C (p.Asp1052=)
|
rs2142299487
|
|
|
NM_024675.4(PALB2):c.3157G>T (p.Asp1053Tyr)
|
rs967436311
|
|
|
NM_024675.4(PALB2):c.3157_3160del (p.Asp1053fs)
|
rs1555458815
|
|
|
NM_024675.4(PALB2):c.3159T>G (p.Asp1053Glu)
|
rs1555458816
|
|
|
NM_024675.4(PALB2):c.3161C>T (p.Ser1054Phe)
|
rs1227213725
|
|
|
NM_024675.4(PALB2):c.3161del (p.Ser1054fs)
|
|
|
|
NM_024675.4(PALB2):c.3163T>C (p.Tyr1055His)
|
rs1319433657
|
|
|
NM_024675.4(PALB2):c.3164dup (p.Tyr1055Ter)
|
rs1567209835
|
|
|
NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter)
|
rs876658157
|
|
|
NM_024675.4(PALB2):c.3165C>G (p.Tyr1055Ter)
|
rs876658157
|
|
|
NM_024675.4(PALB2):c.3166C>G (p.Gln1056Glu)
|
rs1021662947
|
|
|
NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter)
|
rs1021662947
|
|
|
NM_024675.4(PALB2):c.3169G>A (p.Ala1057Thr)
|
|
|
|
NM_024675.4(PALB2):c.3170C>G (p.Ala1057Gly)
|
|
|
|
NM_024675.4(PALB2):c.3171T>A (p.Ala1057=)
|
|
|
|
NM_024675.4(PALB2):c.3172T>G (p.Ser1058Ala)
|
rs863224784
|
|
|
NM_024675.4(PALB2):c.3174A>G (p.Ser1058=)
|
rs1597073268
|
|
|
NM_024675.4(PALB2):c.3174dup (p.Val1059fs)
|
|
|
|
NM_024675.4(PALB2):c.3175G>A (p.Val1059Ile)
|
rs587780217
|
|
|
NM_024675.4(PALB2):c.3175G>T (p.Val1059Phe)
|
|
|
|
NM_024675.4(PALB2):c.3175del (p.Val1059fs)
|
rs2142299058
|
|
|
NM_024675.4(PALB2):c.3177C>T (p.Val1059=)
|
|
|
|
NM_024675.4(PALB2):c.3179G>C (p.Cys1060Ser)
|
rs116967702
|
|
|
NM_024675.4(PALB2):c.3179_3180del (p.Cys1060fs)
|
|
|
|
NM_024675.4(PALB2):c.3179_3180insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNTTTATTTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGAAGCTTCAGTCTGG (p.Cys1060fs)
|
|
|
|
NM_024675.4(PALB2):c.317C>G (p.Ser106Cys)
|
rs1484403594
|
|
|
NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter)
|
rs2142298948
|
|
|
NM_024675.4(PALB2):c.3183C>A (p.His1061Gln)
|
|
|
|
NM_024675.4(PALB2):c.3184A>G (p.Lys1062Glu)
|
rs1567209813
|
|
|
NM_024675.4(PALB2):c.3186del (p.Ala1063fs)
|
rs869312774
|
|
|
NM_024675.4(PALB2):c.3189C>G (p.Ala1063=)
|
|
|
|
NM_024675.4(PALB2):c.318C>T (p.Ser106=)
|
rs2142446163
|
|
|
NM_024675.4(PALB2):c.318del (p.Phe107fs)
|
rs1967055062
|
|
|
NM_024675.4(PALB2):c.3191A>G (p.Tyr1064Cys)
|
rs730881893
|
|
|
NM_024675.4(PALB2):c.3193dup (p.Ser1065fs)
|
|
|
|
NM_024675.4(PALB2):c.3194C>T (p.Ser1065Phe)
|
rs1347982621
|
|
|
NM_024675.4(PALB2):c.3196G>A (p.Glu1066Lys)
|
rs2142298635
|
|
|
NM_024675.4(PALB2):c.3197_3201+5dup
|
rs1966633635
|
|
|
NM_024675.4(PALB2):c.3199A>C (p.Met1067Leu)
|
rs1966634088
|
|
|
NM_024675.4(PALB2):c.31del (p.Cys11fs)
|
|
|
|
NM_024675.4(PALB2):c.3201+1125T>C
|
rs515726109
|
|
|
NM_024675.4(PALB2):c.3201+115T>C
|
rs515726110
|
|
|
NM_024675.4(PALB2):c.3201+15G>T
|
rs1314617288
|
|
|
NM_024675.4(PALB2):c.3201+17dup
|
|
|
|
NM_024675.4(PALB2):c.3201+18G>A
|
|
|
|
NM_024675.4(PALB2):c.3201+1G>A
|
|
|
|
NM_024675.4(PALB2):c.3201+1G>C
|
rs587776423
|
|
|
NM_024675.4(PALB2):c.3201+20G>A
|
rs774029323
|
|
|
NM_024675.4(PALB2):c.3201+2dup
|
rs786203164
|
|
|
NM_024675.4(PALB2):c.3201+3A>C
|
rs876660215
|
|
|
NM_024675.4(PALB2):c.3201+3A>G
|
rs876660215
|
|
|
NM_024675.4(PALB2):c.3201+4A>G
|
rs1226634357
|
|
|
NM_024675.4(PALB2):c.3201+4del
|
rs1555458807
|
|
|
NM_024675.4(PALB2):c.3201+6T>A
|
rs1567209787
|
|
|
NM_024675.4(PALB2):c.3201+6T>C
|
rs1567209787
|
|
|
NM_024675.4(PALB2):c.3201+7A>G
|
|
|
|
NM_024675.4(PALB2):c.3201+8A>G
|
rs1966633439
|
|
|
NM_024675.4(PALB2):c.3201+9T>A
|
rs2142298416
|
|
|
NM_024675.4(PALB2):c.3201G>A (p.Met1067Ile)
|
rs1555458809
|
|
|
NM_024675.4(PALB2):c.3202-10C>G
|
|
|
|
NM_024675.4(PALB2):c.3202-13T>C
|
|
|
|
NM_024675.4(PALB2):c.3202-14T>G
|
|
|
|
NM_024675.4(PALB2):c.3202-15_3202-13del
|
|
|
|
NM_024675.4(PALB2):c.3202-15_3209del
|
|
|
|
NM_024675.4(PALB2):c.3202-17T>A
|
rs2142274677
|
|
|
NM_024675.4(PALB2):c.3202-18A>G
|
|
|
|
NM_024675.4(PALB2):c.3202-1G>A
|
rs515726111
|
|
|
NM_024675.4(PALB2):c.3202-1G>C
|
rs515726111
|
|
|
NM_024675.4(PALB2):c.3202-20T>C
|
|
|
|
NM_024675.4(PALB2):c.3202-2A>C
|
rs1060499827
|
|
|
NM_024675.4(PALB2):c.3202-2A>G
|
rs1060499827
|
|
|
NM_024675.4(PALB2):c.3202-2_3207del
|
|
|
|
NM_024675.4(PALB2):c.3202-34_3305del
|
|
|
|
NM_024675.4(PALB2):c.3202-4T>C
|
rs1597067067
|
|
|
NM_024675.4(PALB2):c.3202-5A>G
|
rs1060502746
|
|
|
NM_024675.4(PALB2):c.3202-6A>C
|
|
|
|
NM_024675.4(PALB2):c.3202-8G>A
|
rs367979106
|
|
|
NM_024675.4(PALB2):c.3202-8G>T
|
rs367979106
|
|
|
NM_024675.4(PALB2):c.3202-9C>A
|
|
|
|
NM_024675.4(PALB2):c.3203G>A (p.Gly1068Glu)
|
rs759587160
|
|
|
NM_024675.4(PALB2):c.3203G>C (p.Gly1068Ala)
|
rs759587160
|
|
|
NM_024675.4(PALB2):c.3204G>T (p.Gly1068=)
|
rs786203475
|
|
|
NM_024675.4(PALB2):c.3205C>T (p.Leu1069Phe)
|
|
|
|
NM_024675.4(PALB2):c.3206T>C (p.Leu1069Pro)
|
rs2142274393
|
|
|
NM_024675.4(PALB2):c.3207T>C (p.Leu1069=)
|
|
|
|
NM_024675.4(PALB2):c.3209T>C (p.Leu1070Pro)
|
rs863224785
|
|
|
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.3210_3211del (p.Phe1071fs)
|
|
|
|
NM_024675.4(PALB2):c.3211T>C (p.Phe1071Leu)
|
rs1555458228
|
|
|
NM_024675.4(PALB2):c.3213T>C (p.Phe1071=)
|
rs774412039
|
|
|
NM_024675.4(PALB2):c.3214_3216delinsTCCAA (p.Ile1072fs)
|
|
|
|
NM_024675.4(PALB2):c.3215T>C (p.Ile1072Thr)
|
rs2142274254
|
|
|
NM_024675.4(PALB2):c.3217G>T (p.Val1073Phe)
|
rs1555458226
|
|
|
NM_024675.4(PALB2):c.3219C>A (p.Val1073=)
|
|
|
|
NM_024675.4(PALB2):c.321T>C (p.Phe107=)
|
rs781049663
|
|
|
NM_024675.4(PALB2):c.321T>G (p.Phe107Leu)
|
rs781049663
|
|
|
NM_024675.4(PALB2):c.3220C>G (p.Leu1074Val)
|
rs1057523330
|
|
|
NM_024675.4(PALB2):c.3220C>T (p.Leu1074=)
|
rs1057523330
|
|
|
NM_024675.4(PALB2):c.3221T>G (p.Leu1074Arg)
|
rs1966512549
|
|
|
NM_024675.4(PALB2):c.3222G>C (p.Leu1074=)
|
|
|
|
NM_024675.4(PALB2):c.3224G>A (p.Ser1075Asn)
|
rs2142274025
|
|
|
NM_024675.4(PALB2):c.3226C>T (p.His1076Tyr)
|
rs1555458224
|
|
|
NM_024675.4(PALB2):c.3228T>G (p.His1076Gln)
|
rs762367769
|
|
|
NM_024675.4(PALB2):c.3228_3244dup (p.Ser1082fs)
|
rs786202008
|
|
|
NM_024675.4(PALB2):c.3228del (p.Cys1078fs)
|
rs1555458223
|
|
|
NM_024675.4(PALB2):c.3229C>G (p.Pro1077Ala)
|
rs587780218
|
|
|
NM_024675.4(PALB2):c.322A>T (p.Asn108Tyr)
|
rs1240552147
|
|
|
NM_024675.4(PALB2):c.3231C>T (p.Pro1077=)
|
rs772714719
|
|
|
NM_024675.4(PALB2):c.3231del (p.Cys1078fs)
|
|
|
|
NM_024675.4(PALB2):c.3232T>C (p.Cys1078Arg)
|
|
|
|
NM_024675.4(PALB2):c.3233G>C (p.Cys1078Ser)
|
rs1567206945
|
|
|
NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter)
|
rs886039634
|
|
|
NM_024675.4(PALB2):c.3238A>T (p.Lys1080Ter)
|
|
|
|
NM_024675.4(PALB2):c.3239A>G (p.Lys1080Arg)
|
rs1441163505
|
|
|
NM_024675.4(PALB2):c.3239_3240del (p.Lys1080fs)
|
rs879254060
|
|
|
NM_024675.4(PALB2):c.3241G>A (p.Glu1081Lys)
|
rs2142273676
|
|
|
NM_024675.4(PALB2):c.3241G>T (p.Glu1081Ter)
|
|
|
|
NM_024675.4(PALB2):c.3242A>G (p.Glu1081Gly)
|
rs1363812475
|
|
|
NM_024675.4(PALB2):c.3242_3245del (p.Glu1081fs)
|
|
|
|
NM_024675.4(PALB2):c.3243G>A (p.Glu1081=)
|
|
|
|
NM_024675.4(PALB2):c.3243G>C (p.Glu1081Asp)
|
rs1966511593
|
|
|
NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer)
|
rs886039503
|
|
|
NM_024675.4(PALB2):c.3246T>A (p.Ser1082Arg)
|
rs1064795472
|
|
|
NM_024675.4(PALB2):c.3246T>G (p.Ser1082Arg)
|
rs1064795472
|
|
|
NM_024675.4(PALB2):c.3246_3247del (p.Ser1082fs)
|
rs876658136
|
|
|
NM_024675.4(PALB2):c.3247_3248insT (p.Glu1083fs)
|
|
|
|
NM_024675.4(PALB2):c.3247_3253dup (p.Leu1085Ter)
|
|
|
|
NM_024675.4(PALB2):c.3248A>T (p.Glu1083Val)
|
|
|
|
NM_024675.4(PALB2):c.3248_3251del (p.Glu1083fs)
|
rs1966510953
|
|
|
NM_024675.4(PALB2):c.3249G>A (p.Glu1083=)
|
|
|
|
NM_024675.4(PALB2):c.3249_3253delinsAGCC
|
rs1567206909
|
|
|
NM_024675.4(PALB2):c.3249_3258del (p.Ser1084fs)
|
rs2142273197
|
|
|
NM_024675.4(PALB2):c.324C>T (p.Asn108=)
|
rs1967054646
|
|
|
NM_024675.4(PALB2):c.3251C>A (p.Ser1084Ter)
|
rs62625271
|
|
|
NM_024675.4(PALB2):c.3252G>C (p.Ser1084=)
|
rs141570833
|
|
|
NM_024675.4(PALB2):c.3252G>T (p.Ser1084=)
|
|
|
|
NM_024675.4(PALB2):c.3254T>C (p.Leu1085Ser)
|
rs780524136
|
|
|
NM_024675.4(PALB2):c.3255G>A (p.Leu1085=)
|
|
|
|
NM_024675.4(PALB2):c.3255G>T (p.Leu1085Phe)
|
|
|
|
NM_024675.4(PALB2):c.3255_3256delinsTT (p.Leu1085_Arg1086delinsPheTer)
|
|
|
|
NM_024675.4(PALB2):c.3256C>A (p.Arg1086=)
|
rs587776527
|
|
|
NM_024675.4(PALB2):c.3256C>G (p.Arg1086Gly)
|
rs587776527
|
|
|
NM_024675.4(PALB2):c.3256del (p.Arg1086fs)
|
rs1057517600
|
|
|
NM_024675.4(PALB2):c.3258A>T (p.Arg1086=)
|
rs1597066871
|
|
|
NM_024675.4(PALB2):c.325C>G (p.Pro109Ala)
|
rs1555461831
|
|
|
NM_024675.4(PALB2):c.3260G>A (p.Ser1087Asn)
|
rs863224786
|
|
|
NM_024675.4(PALB2):c.3262C>G (p.Pro1088Ala)
|
rs1060502777
|
|
|
NM_024675.4(PALB2):c.3262C>T (p.Pro1088Ser)
|
rs1060502777
|
|
|
NM_024675.4(PALB2):c.3263C>A (p.Pro1088His)
|
rs1966509842
|
|
|
NM_024675.4(PALB2):c.3263C>G (p.Pro1088Arg)
|
rs1966509842
|
|
|
NM_024675.4(PALB2):c.3263del (p.Pro1088fs)
|
rs1966509881
|
|
|
NM_024675.4(PALB2):c.3264T>C (p.Pro1088=)
|
|
|
|
NM_024675.4(PALB2):c.3264_3266dup (p.Val1089dup)
|
rs1060502802
|
|
|
NM_024675.4(PALB2):c.3264del (p.Val1089fs)
|
|
|
|
NM_024675.4(PALB2):c.3265G>A (p.Val1089Met)
|
rs1966509780
|
|
|
NM_024675.4(PALB2):c.3265G>T (p.Val1089Leu)
|
rs1966509780
|
|
|
NM_024675.4(PALB2):c.3267_3268del (p.Phe1090fs)
|
rs587781890
|
|
|
NM_024675.4(PALB2):c.3268T>C (p.Phe1090Leu)
|
rs1597066839
|
|
|
NM_024675.4(PALB2):c.326del (p.Pro109fs)
|
rs2142445986
|
|
|
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter)
|
rs864622138
|
|
|
NM_024675.4(PALB2):c.3272A>G (p.Gln1091Arg)
|
rs1597066825
|
|
|
NM_024675.4(PALB2):c.3272dup (p.Leu1092fs)
|
|
|
|
NM_024675.4(PALB2):c.3273G>A (p.Gln1091=)
|
|
|
|
NM_024675.4(PALB2):c.3273G>C (p.Gln1091His)
|
rs1555458200
|
|
|
NM_024675.4(PALB2):c.3275T>C (p.Leu1092Pro)
|
rs1597066815
|
|
|
NM_024675.4(PALB2):c.3277A>G (p.Ile1093Val)
|
rs1597066812
|
|
|
NM_024675.4(PALB2):c.3277_3279del (p.Ile1093del)
|
rs1597066803
|
|
|
NM_024675.4(PALB2):c.327T>C (p.Pro109=)
|
|
|
|
NM_024675.4(PALB2):c.3280G>A (p.Val1094Met)
|
rs1597066796
|
|
|
NM_024675.4(PALB2):c.3284T>C (p.Ile1095Thr)
|
rs1966508816
|
|
|
NM_024675.4(PALB2):c.3285delinsGTTAATG (p.Ile1095delinsMetLeuMet)
|
|
|
|
NM_024675.4(PALB2):c.3286A>G (p.Asn1096Asp)
|
rs62625281
|
|
|
NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs)
|
rs587782337
|
|
|
NM_024675.4(PALB2):c.3287A>G (p.Asn1096Ser)
|
rs786201142
|
|
|
NM_024675.4(PALB2):c.3287_3289del (p.Asn1096_Pro1097delinsThr)
|
|
|
|
NM_024675.4(PALB2):c.3288C>A (p.Asn1096Lys)
|
rs1597066782
|
|
|
NM_024675.4(PALB2):c.3288C>T (p.Asn1096=)
|
rs1597066782
|
|
|
NM_024675.4(PALB2):c.3289C>A (p.Pro1097Thr)
|
|
|
|
NM_024675.4(PALB2):c.3289C>T (p.Pro1097Ser)
|
rs1966508272
|
|
|
NM_024675.4(PALB2):c.328G>A (p.Gly110Arg)
|
rs2142445918
|
|
|
NM_024675.4(PALB2):c.328G>C (p.Gly110Arg)
|
|
|
|
NM_024675.4(PALB2):c.3290C>G (p.Pro1097Arg)
|
rs587781308
|
|
|
NM_024675.4(PALB2):c.3290C>T (p.Pro1097Leu)
|
rs587781308
|
|
|
NM_024675.4(PALB2):c.3291_3300delinsACG (p.Lys1098fs)
|
|
|
|
NM_024675.4(PALB2):c.3291del (p.Lys1098fs)
|
|
|
|
NM_024675.4(PALB2):c.3292A>G (p.Lys1098Glu)
|
rs2142272407
|
|
|
NM_024675.4(PALB2):c.3293_3296dup (p.Thr1100fs)
|
|
|
|
NM_024675.4(PALB2):c.3294G>A (p.Lys1098=)
|
rs875989796
|
|
|
NM_024675.4(PALB2):c.3294GAC[1] (p.Thr1100del)
|
rs1966507561
|
|
|
NM_024675.4(PALB2):c.3295A>G (p.Thr1099Ala)
|
|
|
|
NM_024675.4(PALB2):c.3295_3305del (p.Thr1099fs)
|
|
|
|
NM_024675.4(PALB2):c.3295_3310delinsCGTGGT (p.Thr1099fs)
|
rs1966506715
|
|
|
NM_024675.4(PALB2):c.3296C>A (p.Thr1099Lys)
|
|
|
|
NM_024675.4(PALB2):c.3296C>T (p.Thr1099Met)
|
rs142132127
|
|
|
NM_024675.4(PALB2):c.3296del (p.Thr1099fs)
|
rs1966508003
|
|
|
NM_024675.4(PALB2):c.3296dup (p.Thr1100fs)
|
|
|
|
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.3297_3301del (p.Thr1100fs)
|
rs1567206813
|
|
|
NM_024675.4(PALB2):c.3298A>G (p.Thr1100Ala)
|
rs1966507619
|
|
|
NM_024675.4(PALB2):c.3298_3305dup (p.Ser1102fs)
|
|
|
|
NM_024675.4(PALB2):c.3298_3307del (p.Thr1100fs)
|
|
|
|
NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs)
|
rs1555458187
|
|
|
NM_024675.4(PALB2):c.329G>A (p.Gly110Glu)
|
rs1341395298
|
|
|
NM_024675.4(PALB2):c.329G>C (p.Gly110Ala)
|
rs1341395298
|
|
|
NM_024675.4(PALB2):c.32G>A (p.Cys11Tyr)
|
|
|
|
NM_024675.4(PALB2):c.3300T>A (p.Thr1100=)
|
rs45516100
|
|
|
NM_024675.4(PALB2):c.3301C>T (p.Leu1101Phe)
|
rs1966507273
|
|
|
NM_024675.4(PALB2):c.3302T>G (p.Leu1101Arg)
|
rs1555458188
|
|
|
NM_024675.4(PALB2):c.3302_3303del (p.Leu1101fs)
|
rs1567206804
|
|
|
NM_024675.4(PALB2):c.3302_3306dup (p.Val1103fs)
|
|
|
|
NM_024675.4(PALB2):c.3303C>T (p.Leu1101=)
|
|
|
|
NM_024675.4(PALB2):c.3305G>T (p.Ser1102Ile)
|
rs2142272071
|
|
|
NM_024675.4(PALB2):c.3305_3306insACGCTCAG (p.Ser1102fs)
|
rs2142272095
|
|
|
NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg)
|
rs515726112
|
|
|
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.3307G>T (p.Val1103Leu)
|
rs201657283
|
|
|
NM_024675.4(PALB2):c.3308T>G (p.Val1103Gly)
|
rs1966506776
|
|
|
NM_024675.4(PALB2):c.330A>C (p.Gly110=)
|
|
|
|
NM_024675.4(PALB2):c.3310G>T (p.Gly1104Cys)
|
rs188254555
|
|
|
NM_024675.4(PALB2):c.3311G>T (p.Gly1104Val)
|
rs1060502798
|
|
|
NM_024675.4(PALB2):c.3313dup (p.Val1105fs)
|
|
|
|
NM_024675.4(PALB2):c.3314T>C (p.Val1105Ala)
|
rs2142271779
|
|
|
NM_024675.4(PALB2):c.3315G>A (p.Val1105=)
|
|
|
|
NM_024675.4(PALB2):c.3318G>A (p.Met1106Ile)
|
|
|
|
NM_024675.4(PALB2):c.331G>A (p.Asp111Asn)
|
rs1597099556
|
|
|
NM_024675.4(PALB2):c.331G>C (p.Asp111His)
|
|
|
|
NM_024675.4(PALB2):c.3321G>A (p.Leu1107=)
|
rs515726113
|
|
|
NM_024675.4(PALB2):c.3323_3327del (p.Tyr1108fs)
|
|
|
|
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter)
|
rs1218512317
|
|
|
NM_024675.4(PALB2):c.3324C>T (p.Tyr1108=)
|
rs1218512317
|
|
|
NM_024675.4(PALB2):c.3325T>C (p.Cys1109Arg)
|
rs911734555
|
|
|
NM_024675.4(PALB2):c.3326G>A (p.Cys1109Tyr)
|
rs1597066628
|
|
|
NM_024675.4(PALB2):c.3327T>C (p.Cys1109=)
|
rs2142271504
|
|
|
NM_024675.4(PALB2):c.3328C>G (p.Leu1110Val)
|
rs878855117
|
|
|
NM_024675.4(PALB2):c.332A>G (p.Asp111Gly)
|
rs2142445830
|
|
|
NM_024675.4(PALB2):c.3331C>T (p.Pro1111Ser)
|
rs864622193
|
|
|
NM_024675.4(PALB2):c.3332C>T (p.Pro1111Leu)
|
rs772480747
|
|
|
NM_024675.4(PALB2):c.3332del (p.Pro1111fs)
|
rs1597066595
|
|
|
NM_024675.4(PALB2):c.3333T>A (p.Pro1111=)
|
rs1597066587
|
|
|
NM_024675.4(PALB2):c.3333_3337delinsCCA (p.Pro1112fs)
|
|
|
|
NM_024675.4(PALB2):c.3333del (p.Pro1112fs)
|
|
|
|
NM_024675.4(PALB2):c.3334C>T (p.Pro1112Ser)
|
rs2142271325
|
|
|
NM_024675.4(PALB2):c.3339G>A (p.Gly1113=)
|
rs1555458175
|
|
|
NM_024675.4(PALB2):c.3339del (p.Gln1114fs)
|
|
|
|
NM_024675.4(PALB2):c.333T>A (p.Asp111Glu)
|
|
|
|
NM_024675.4(PALB2):c.333T>C (p.Asp111=)
|
rs1597099553
|
|
|
NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter)
|
rs1567206756
|
|
|
NM_024675.4(PALB2):c.3342G>C (p.Gln1114His)
|
rs1567206753
|
|
|
NM_024675.4(PALB2):c.3343G>A (p.Ala1115Thr)
|
rs1567206747
|
|
|
NM_024675.4(PALB2):c.3344C>T (p.Ala1115Val)
|
rs1203633436
|
|
|
NM_024675.4(PALB2):c.3346G>A (p.Gly1116Ser)
|
|
|
|
NM_024675.4(PALB2):c.3347G>A (p.Gly1116Asp)
|
rs1597066554
|
|
|
NM_024675.4(PALB2):c.3347_3348del (p.Gly1116fs)
|
|
|
|
NM_024675.4(PALB2):c.3348C>T (p.Gly1116=)
|
rs746346966
|
|
|
NM_024675.4(PALB2):c.3350+11A>C
|
rs515726114
|
|
|
NM_024675.4(PALB2):c.3350+14A>G
|
rs749584711
|
|
|
NM_024675.4(PALB2):c.3350+15C>T
|
rs2142270880
|
|
|
NM_024675.4(PALB2):c.3350+1G>A
|
rs864622192
|
|
|
NM_024675.4(PALB2):c.3350+2C>A
|
|
|
|
NM_024675.4(PALB2):c.3350+2C>G
|
rs1555458171
|
|
|
NM_024675.4(PALB2):c.3350+2C>T
|
|
|
|
NM_024675.4(PALB2):c.3350+4A>G
|
rs180177136
|
|
|
NM_024675.4(PALB2):c.3350+6T>C
|
rs1567206733
|
|
|
NM_024675.4(PALB2):c.3350+7G>C
|
rs2142270979
|
|
|
NM_024675.4(PALB2):c.3350+8T>A
|
|
|
|
NM_024675.4(PALB2):c.3350+9G>A
|
rs1966504683
|
|
|
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)
|
rs876659859
|
|
|
NM_024675.4(PALB2):c.3351-10A>T
|
rs1057517611
|
|
|
NM_024675.4(PALB2):c.3351-150_*2del
|
rs2142250624
|
|
|
NM_024675.4(PALB2):c.3351-16C>T
|
|
|
|
NM_024675.4(PALB2):c.3351-19C>G
|
|
|
|
NM_024675.4(PALB2):c.3351-1G>A
|
rs1597062406
|
|
|
NM_024675.4(PALB2):c.3351-1G>C
|
rs1597062406
|
|
|
NM_024675.4(PALB2):c.3351-20T>A
|
|
|
|
NM_024675.4(PALB2):c.3351-2A>G
|
rs1060502764
|
|
|
NM_024675.4(PALB2):c.3351-48del
|
rs140806991
|
|
|
NM_024675.4(PALB2):c.3351-4T>C
|
rs777945799
|
|
|
NM_024675.4(PALB2):c.3351-5A>C
|
rs749386551
|
|
|
NM_024675.4(PALB2):c.3351-6T>C
|
rs770987416
|
|
|
NM_024675.4(PALB2):c.3351-7C>T
|
rs2142255767
|
|
|
NM_024675.4(PALB2):c.3351-9T>C
|
rs1057524295
|
|
|
NM_024675.4(PALB2):c.3351G>A (p.Arg1117=)
|
rs1966406887
|
|
|
NM_024675.4(PALB2):c.3351G>C (p.Arg1117Ser)
|
|
|
|
NM_024675.4(PALB2):c.3353T>A (p.Phe1118Tyr)
|
rs1966406795
|
|
|
NM_024675.4(PALB2):c.3354C>T (p.Phe1118=)
|
|
|
|
NM_024675.4(PALB2):c.3355C>T (p.Leu1119=)
|
rs748338957
|
|
|
NM_024675.4(PALB2):c.3358G>A (p.Glu1120Lys)
|
rs876658773
|
|
|
NM_024675.4(PALB2):c.3358G>C (p.Glu1120Gln)
|
rs876658773
|
|
|
NM_024675.4(PALB2):c.3358G>T (p.Glu1120Ter)
|
rs876658773
|
|
|
NM_024675.4(PALB2):c.3361G>A (p.Gly1121Ser)
|
rs1597062387
|
|
|
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)
|
rs515726117
|
|
|
NM_024675.4(PALB2):c.3364G>A (p.Asp1122Asn)
|
|
|
|
NM_024675.4(PALB2):c.3366C>A (p.Asp1122Glu)
|
rs373783514
|
|
|
NM_024675.4(PALB2):c.3367G>A (p.Val1123Met)
|
rs757118000
|
|
|
NM_024675.4(PALB2):c.3367G>C (p.Val1123Leu)
|
rs757118000
|
|
|
NM_024675.4(PALB2):c.3369G>A (p.Val1123=)
|
rs753357848
|
|
|
NM_024675.4(PALB2):c.336C>A (p.Gly112=)
|
rs1293127133
|
|
|
NM_024675.4(PALB2):c.3374A>T (p.Asp1125Val)
|
rs1966405277
|
|
|
NM_024675.4(PALB2):c.3374_3395del (p.Asp1125fs)
|
rs876660574
|
|
|
NM_024675.4(PALB2):c.3375T>A (p.Asp1125Glu)
|
|
|
|
NM_024675.4(PALB2):c.3377A>C (p.His1126Pro)
|
rs752373316
|
|
|
NM_024675.4(PALB2):c.3377A>G (p.His1126Arg)
|
rs752373316
|
|
|
NM_024675.4(PALB2):c.337C>G (p.Pro113Ala)
|
rs1352495486
|
|
|
NM_024675.4(PALB2):c.3380G>A (p.Cys1127Tyr)
|
|
|
|
NM_024675.4(PALB2):c.3381T>G (p.Cys1127Trp)
|
|
|
|
NM_024675.4(PALB2):c.3383C>G (p.Ala1128Gly)
|
rs1966404870
|
|
|
NM_024675.4(PALB2):c.3385G>A (p.Ala1129Thr)
|
rs1966404823
|
|
|
NM_024675.4(PALB2):c.3385G>C (p.Ala1129Pro)
|
rs1966404823
|
|
|
NM_024675.4(PALB2):c.3385G>T (p.Ala1129Ser)
|
rs1966404823
|
|
|
NM_024675.4(PALB2):c.3386C>A (p.Ala1129Glu)
|
rs1567205179
|
|
|
NM_024675.4(PALB2):c.3386C>T (p.Ala1129Val)
|
rs1567205179
|
|
|
NM_024675.4(PALB2):c.3386_3399dup (p.Ser1134delinsGlnGlnSerTer)
|
|
|
|
NM_024675.4(PALB2):c.3389C>T (p.Ala1130Val)
|
|
|
|
NM_024675.4(PALB2):c.338C>G (p.Pro113Arg)
|
rs374425261
|
|
|
NM_024675.4(PALB2):c.338C>T (p.Pro113Leu)
|
rs374425261
|
|
|
NM_024675.4(PALB2):c.338del (p.Pro113fs)
|
rs1555461825
|
|
|
NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr)
|
rs876658196
|
|
|
NM_024675.4(PALB2):c.3394_3395del (p.Leu1132fs)
|
|
|
|
NM_024675.4(PALB2):c.3395T>A (p.Leu1132Ter)
|
rs1597062296
|
|
|
NM_024675.4(PALB2):c.3395T>C (p.Leu1132Ser)
|
rs1597062296
|
|
|
NM_024675.4(PALB2):c.3395_3402dup (p.Gly1135Ter)
|
|
|
|
NM_024675.4(PALB2):c.3396_3405del (p.Thr1133fs)
|
rs876660492
|
|
|
NM_024675.4(PALB2):c.3397A>T (p.Thr1133Ser)
|
|
|
|
NM_024675.4(PALB2):c.33T>A (p.Cys11Ter)
|
|
|
|
NM_024675.4(PALB2):c.3402T>A (p.Ser1134=)
|
rs1966403904
|
|
|
NM_024675.4(PALB2):c.3402T>C (p.Ser1134=)
|
|
|
|
NM_024675.4(PALB2):c.3403G>A (p.Gly1135Arg)
|
|
|
|
NM_024675.4(PALB2):c.3403G>T (p.Gly1135Ter)
|
|
|
|
NM_024675.4(PALB2):c.3404G>C (p.Gly1135Ala)
|
rs730881894
|
|
|
NM_024675.4(PALB2):c.3404G>T (p.Gly1135Val)
|
rs730881894
|
|
|
NM_024675.4(PALB2):c.3407del (p.Thr1136fs)
|
|
|
|
NM_024675.4(PALB2):c.3410T>A (p.Ile1137Asn)
|
|
|
|
NM_024675.4(PALB2):c.3410T>C (p.Ile1137Thr)
|
rs868258231
|
|
|
NM_024675.4(PALB2):c.3411del (p.Ile1137fs)
|
|
|
|
NM_024675.4(PALB2):c.3412del (p.Ala1138fs)
|
|
|
|
NM_024675.4(PALB2):c.3413C>G (p.Ala1138Gly)
|
rs1966403381
|
|
|
NM_024675.4(PALB2):c.3413_3414delinsAT (p.Ala1138Asp)
|
|
|
|
NM_024675.4(PALB2):c.3414C>T (p.Ala1138=)
|
rs2142254371
|
|
|
NM_024675.4(PALB2):c.3415A>C (p.Ile1139Leu)
|
rs1249960937
|
|
|
NM_024675.4(PALB2):c.3415A>T (p.Ile1139Phe)
|
rs1249960937
|
|
|
NM_024675.4(PALB2):c.3416T>C (p.Ile1139Thr)
|
|
|
|
NM_024675.4(PALB2):c.3418T>A (p.Trp1140Arg)
|
rs62625283
|
|
|
NM_024675.4(PALB2):c.3418T>C (p.Trp1140Arg)
|
rs62625283
|
|
|
NM_024675.4(PALB2):c.3418T>G (p.Trp1140Gly)
|
rs62625283
|
|
|
NM_024675.4(PALB2):c.3418del (p.Trp1140fs)
|
rs2142254289
|
|
|
NM_024675.4(PALB2):c.3419G>A (p.Trp1140Ter)
|
|
|
|
NM_024675.4(PALB2):c.341G>A (p.Gly114Glu)
|
rs1567223045
|
|
|
NM_024675.4(PALB2):c.341_342delinsAT (p.Gly114Asp)
|
rs1967053362
|
|
|
NM_024675.4(PALB2):c.3420G>A (p.Trp1140Ter)
|
rs878855118
|
|
|
NM_024675.4(PALB2):c.3421G>A (p.Asp1141Asn)
|
rs1064795975
|
|
|
NM_024675.4(PALB2):c.3423C>T (p.Asp1141=)
|
|
|
|
NM_024675.4(PALB2):c.3425T>A (p.Leu1142Ter)
|
rs1555457878
|
|
|
NM_024675.4(PALB2):c.3425T>G (p.Leu1142Ter)
|
rs1555457878
|
|
|
NM_024675.4(PALB2):c.3425del (p.Leu1142fs)
|
rs1057517563
|
|
|
NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs)
|
rs587776424
|
|
|
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs)
|
rs587776425
|
|
|
NM_024675.4(PALB2):c.3427C>G (p.Leu1143Val)
|
rs368694141
|
|
|
NM_024675.4(PALB2):c.3427C>T (p.Leu1143Phe)
|
|
|
|
NM_024675.4(PALB2):c.3428T>C (p.Leu1143Pro)
|
rs62625284
|
|
|
NM_024675.4(PALB2):c.3430C>A (p.Leu1144Ile)
|
rs1966401863
|
|
|
NM_024675.4(PALB2):c.3430C>G (p.Leu1144Val)
|
rs1966401863
|
|
|
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.3432_3433delinsAT (p.Gly1145Cys)
|
rs1555457873
|
|
|
NM_024675.4(PALB2):c.3432del (p.Gly1145fs)
|
|
|
|
NM_024675.4(PALB2):c.3433G>A (p.Gly1145Ser)
|
rs180177137
|
|
|
NM_024675.4(PALB2):c.3433G>C (p.Gly1145Arg)
|
rs180177137
|
|
|
NM_024675.4(PALB2):c.3433G>T (p.Gly1145Cys)
|
rs180177137
|
|
|
NM_024675.4(PALB2):c.3433_3436del (p.Gly1145fs)
|
|
|
|
NM_024675.4(PALB2):c.3436C>A (p.Gln1146Lys)
|
rs879254033
|
|
|
NM_024675.4(PALB2):c.3436C>G (p.Gln1146Glu)
|
rs879254033
|
|
|
NM_024675.4(PALB2):c.3436C>T (p.Gln1146Ter)
|
rs879254033
|
|
|
NM_024675.4(PALB2):c.3437A>T (p.Gln1146Leu)
|
rs587780219
|
|
|
NM_024675.4(PALB2):c.3438G>A (p.Gln1146=)
|
|
|
|
NM_024675.4(PALB2):c.3438G>T (p.Gln1146His)
|
|
|
|
NM_024675.4(PALB2):c.343G>T (p.Gly115Ter)
|
rs1597099523
|
|
|
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter)
|
rs1555457867
|
|
|
NM_024675.4(PALB2):c.3442A>G (p.Thr1148Ala)
|
|
|
|
NM_024675.4(PALB2):c.3443C>T (p.Thr1148Ile)
|
rs2142253712
|
|
|
NM_024675.4(PALB2):c.3444T>C (p.Thr1148=)
|
rs778512231
|
|
|
NM_024675.4(PALB2):c.3446_3447insAGTACAGC (p.Leu1150fs)
|
rs2142253658
|
|
|
NM_024675.4(PALB2):c.3447C>G (p.Ala1149=)
|
rs1555457863
|
|
|
NM_024675.4(PALB2):c.3447C>T (p.Ala1149=)
|
rs1555457863
|
|
|
NM_024675.4(PALB2):c.3448C>T (p.Leu1150Phe)
|
rs863224787
|
|
|
NM_024675.4(PALB2):c.3449TCC[1] (p.Leu1151del)
|
rs1597062091
|
|
|
NM_024675.4(PALB2):c.3449_3455del (p.Leu1150fs)
|
|
|
|
NM_024675.4(PALB2):c.3450C>T (p.Leu1150=)
|
rs2142253555
|
|
|
NM_024675.4(PALB2):c.3452T>A (p.Leu1151His)
|
rs730881895
|
|
|
NM_024675.4(PALB2):c.3452_3454delinsCT (p.Leu1151fs)
|
|
|
|
NM_024675.4(PALB2):c.3453C>T (p.Leu1151=)
|
rs777315394
|
|
|
NM_024675.4(PALB2):c.3454C>A (p.Pro1152Thr)
|
rs2142253457
|
|
|
NM_024675.4(PALB2):c.3454C>T (p.Pro1152Ser)
|
|
|
|
NM_024675.4(PALB2):c.3455del (p.Pro1152fs)
|
rs1597062083
|
|
|
NM_024675.4(PALB2):c.3456A>G (p.Pro1152=)
|
rs2142253411
|
|
|
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)
|
rs587776426
|
|
|
NM_024675.4(PALB2):c.3457C>G (p.Pro1153Ala)
|
|
|
|
NM_024675.4(PALB2):c.3457C>T (p.Pro1153Ser)
|
rs1966399624
|
|
|
NM_024675.4(PALB2):c.3458C>T (p.Pro1153Leu)
|
rs1567205039
|
|
|
NM_024675.4(PALB2):c.3459T>C (p.Pro1153=)
|
|
|
|
NM_024675.4(PALB2):c.3461T>C (p.Val1154Ala)
|
rs1966399348
|
|
|
NM_024675.4(PALB2):c.3463T>A (p.Ser1155Thr)
|
|
|
|
NM_024675.4(PALB2):c.3463T>C (p.Ser1155Pro)
|
rs1555457858
|
|
|
NM_024675.4(PALB2):c.3464_3465del (p.Val1154_Ser1155insTer)
|
rs2142253220
|
|
|
NM_024675.4(PALB2):c.3465T>C (p.Ser1155=)
|
rs1597062045
|
|
|
NM_024675.4(PALB2):c.3467_3468del (p.Asp1156fs)
|
|
|
|
NM_024675.4(PALB2):c.3469C>G (p.Gln1157Glu)
|
rs1597062038
|
|
|
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter)
|
rs1597062038
|
|
|
NM_024675.4(PALB2):c.346T>C (p.Leu116=)
|
|
|
|
NM_024675.4(PALB2):c.3470A>C (p.Gln1157Pro)
|
rs1567205033
|
|
|
NM_024675.4(PALB2):c.3471A>C (p.Gln1157His)
|
rs876659978
|
|
|
NM_024675.4(PALB2):c.3471A>G (p.Gln1157=)
|
rs876659978
|
|
|
NM_024675.4(PALB2):c.3474T>A (p.His1158Gln)
|
rs730881896
|
|
|
NM_024675.4(PALB2):c.3474T>C (p.His1158=)
|
rs730881896
|
|
|
NM_024675.4(PALB2):c.3475T>C (p.Trp1159Arg)
|
rs876660792
|
|
|
NM_024675.4(PALB2):c.3475del (p.Trp1159fs)
|
rs2142252950
|
|
|
NM_024675.4(PALB2):c.3476G>A (p.Trp1159Ter)
|
rs587782050
|
|
|
NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter)
|
rs1597061983
|
|
|
NM_024675.4(PALB2):c.347T>A (p.Leu116Ter)
|
rs876660465
|
|
|
NM_024675.4(PALB2):c.347T>C (p.Leu116Ser)
|
rs876660465
|
|
|
NM_024675.4(PALB2):c.347dup (p.Leu116fs)
|
|
|
|
NM_024675.4(PALB2):c.3481T>G (p.Phe1161Val)
|
rs2142252804
|
|
|
NM_024675.4(PALB2):c.3482T>C (p.Phe1161Ser)
|
|
|
|
NM_024675.4(PALB2):c.3483T>A (p.Phe1161Leu)
|
|
|
|
NM_024675.4(PALB2):c.3483del (p.Phe1161fs)
|
rs2142252781
|
|
|
NM_024675.4(PALB2):c.3486G>A (p.Val1162=)
|
rs1597061958
|
|
|
NM_024675.4(PALB2):c.3487A>G (p.Lys1163Glu)
|
rs145369260
|
|
|
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.3494dup (p.Thr1167fs)
|
rs2142252484
|
|
|
NM_024675.4(PALB2):c.3495G>C (p.Ser1165=)
|
rs45439097
|
|
|
NM_024675.4(PALB2):c.3496G>A (p.Gly1166Ser)
|
rs1966397121
|
|
|
NM_024675.4(PALB2):c.3496G>T (p.Gly1166Cys)
|
|
|
|
NM_024675.4(PALB2):c.3497G>A (p.Gly1166Asp)
|
|
|
|
NM_024675.4(PALB2):c.3497_3498del (p.Gly1166fs)
|
rs587776427
|
|
|
NM_024675.4(PALB2):c.3498T>A (p.Gly1166=)
|
rs2142252267
|
|
|
NM_024675.4(PALB2):c.3498_3502del (p.Thr1167fs)
|
rs2142252096
|
|
|
NM_024675.4(PALB2):c.3499A>G (p.Thr1167Ala)
|
rs1597061878
|
|
|
NM_024675.4(PALB2):c.349C>A (p.Pro117Thr)
|
rs1413238389
|
|
|
NM_024675.4(PALB2):c.349C>G (p.Pro117Ala)
|
|
|
|
NM_024675.4(PALB2):c.349C>T (p.Pro117Ser)
|
rs1413238389
|
|
|
NM_024675.4(PALB2):c.34G>A (p.Glu12Lys)
|
rs765520187
|
|
|
NM_024675.4(PALB2):c.34G>C (p.Glu12Gln)
|
rs765520187
|
|
|
NM_024675.4(PALB2):c.34GAG[1] (p.Glu13del)
|
rs745444171
|
|
|
NM_024675.4(PALB2):c.3500C>T (p.Thr1167Ile)
|
rs1308784980
|
|
|
NM_024675.4(PALB2):c.3501_3502insTGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGGTCGGGTACA (p.Asp1168delinsTrpProGlyAlaValAlaHisAlaCysSerProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2142252136
|
|
|
NM_024675.4(PALB2):c.3501_3504del (p.Asp1168fs)
|
rs2142251992
|
|
|
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.3505T>A (p.Ser1169Thr)
|
|
|
|
NM_024675.4(PALB2):c.3506C>G (p.Ser1169Cys)
|
rs1555457848
|
|
|
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)
|
rs587776428
|
|
|
NM_024675.4(PALB2):c.3508C>A (p.His1170Asn)
|
rs200283306
|
|
|
NM_024675.4(PALB2):c.350C>T (p.Pro117Leu)
|
rs1567223025
|
|
|
NM_024675.4(PALB2):c.3512T>C (p.Leu1171Ser)
|
rs2142251737
|
|
|
NM_024675.4(PALB2):c.3512del (p.Leu1171fs)
|
|
|
|
NM_024675.4(PALB2):c.3514C>G (p.Leu1172Val)
|
rs1966396230
|
|
|
NM_024675.4(PALB2):c.3515T>C (p.Leu1172Pro)
|
rs1555457845
|
|
|
NM_024675.4(PALB2):c.3515T>G (p.Leu1172Arg)
|
rs1555457845
|
|
|
NM_024675.4(PALB2):c.3517G>A (p.Ala1173Thr)
|
rs1555457844
|
|
|
NM_024675.4(PALB2):c.3517G>T (p.Ala1173Ser)
|
rs1555457844
|
|
|
NM_024675.4(PALB2):c.3518C>A (p.Ala1173Asp)
|
rs146659762
|
|
|
NM_024675.4(PALB2):c.3520G>A (p.Gly1174Arg)
|
rs786203339
|
|
|
NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter)
|
rs1555457841
|
|
|
NM_024675.4(PALB2):c.3523_3529delinsAAAAAAAAA (p.Gln1175fs)
|
rs2142251364
|
|
|
NM_024675.4(PALB2):c.3524A>G (p.Gln1175Arg)
|
rs1966395750
|
|
|
NM_024675.4(PALB2):c.3528_3540del (p.Lys1176fs)
|
rs2142251164
|
|
|
NM_024675.4(PALB2):c.352A>G (p.Ile118Val)
|
rs1567223015
|
|
|
NM_024675.4(PALB2):c.3532G>A (p.Gly1178Arg)
|
|
|
|
NM_024675.4(PALB2):c.3532_3537del (p.Gly1178_Asn1179del)
|
rs2142251240
|
|
|
NM_024675.4(PALB2):c.3533G>C (p.Gly1178Ala)
|
|
|
|
NM_024675.4(PALB2):c.3536A>G (p.Asn1179Ser)
|
rs1597061803
|
|
|
NM_024675.4(PALB2):c.3537T>A (p.Asn1179Lys)
|
rs1567204943
|
|
|
NM_024675.4(PALB2):c.3537T>C (p.Asn1179=)
|
rs1567204943
|
|
|
NM_024675.4(PALB2):c.3537_3547delinsAATGTAG (p.Asn1179_Tyr1183delinsLysMetTer)
|
|
|
|
NM_024675.4(PALB2):c.3540_3543del (p.Ile1180fs)
|
rs1567204932
|
|
|
NM_024675.4(PALB2):c.3542T>C (p.Phe1181Ser)
|
rs587781968
|
|
|
NM_024675.4(PALB2):c.3542_3543dup (p.Val1182fs)
|
rs1567204928
|
|
|
NM_024675.4(PALB2):c.3543del (p.Phe1181fs)
|
rs1567204928
|
|
|
NM_024675.4(PALB2):c.3544G>C (p.Val1182Leu)
|
rs876660474
|
|
|
NM_024675.4(PALB2):c.3544_3545insA (p.Val1182fs)
|
|
|
|
NM_024675.4(PALB2):c.3546A>G (p.Val1182=)
|
rs1060504704
|
|
|
NM_024675.4(PALB2):c.3547T>G (p.Tyr1183Asp)
|
rs1567204915
|
|
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
rs118203998
|
|
|
NM_024675.4(PALB2):c.3551del (p.His1184fs)
|
rs1597061743
|
|
|
NM_024675.4(PALB2):c.3553T>C (p.Tyr1185His)
|
rs878855120
|
|
|
NM_024675.4(PALB2):c.3553T>G (p.Tyr1185Asp)
|
rs878855120
|
|
|
NM_024675.4(PALB2):c.3557C>G (p.Ser1186Ter)
|
rs2142250676
|
|
|
NM_024675.4(PALB2):c.3559T>C (p.Ter1187Gln)
|
rs1597061731
|
|
|
NM_024675.4(PALB2):c.355del (p.Gln119fs)
|
rs1060502760
|
|
|
NM_024675.4(PALB2):c.359G>C (p.Arg120Thr)
|
rs1251150895
|
|
|
NM_024675.4(PALB2):c.35A>C (p.Glu12Ala)
|
rs876659744
|
|
|
NM_024675.4(PALB2):c.35del (p.Glu12fs)
|
rs876659063
|
|
|
NM_024675.4(PALB2):c.361A>G (p.Thr121Ala)
|
rs1967052155
|
|
|
NM_024675.4(PALB2):c.363A>G (p.Thr121=)
|
rs1555461816
|
|
|
NM_024675.4(PALB2):c.363A>T (p.Thr121=)
|
|
|
|
NM_024675.4(PALB2):c.364G>A (p.Asp122Asn)
|
rs730881880
|
|
|
NM_024675.4(PALB2):c.365A>G (p.Asp122Gly)
|
rs866367185
|
|
|
NM_024675.4(PALB2):c.368A>T (p.Asp123Val)
|
rs2142445019
|
|
|
NM_024675.4(PALB2):c.369C>T (p.Asp123=)
|
rs1967051605
|
|
|
NM_024675.4(PALB2):c.36G>C (p.Glu12Asp)
|
rs760609798
|
|
|
NM_024675.4(PALB2):c.371C>A (p.Thr124Asn)
|
rs45457297
|
|
|
NM_024675.4(PALB2):c.373C>T (p.Gln125Ter)
|
|
|
|
NM_024675.4(PALB2):c.373del (p.Gln125fs)
|
|
|
|
NM_024675.4(PALB2):c.375A>G (p.Gln125=)
|
rs531307676
|
|
|
NM_024675.4(PALB2):c.376G>A (p.Glu126Lys)
|
|
|
|
NM_024675.4(PALB2):c.377A>G (p.Glu126Gly)
|
|
|
|
NM_024675.4(PALB2):c.378A>G (p.Glu126=)
|
rs2142444796
|
|
|
NM_024675.4(PALB2):c.37G>C (p.Glu13Gln)
|
rs373287455
|
|
|
NM_024675.4(PALB2):c.37G>T (p.Glu13Ter)
|
rs373287455
|
|
|
NM_024675.4(PALB2):c.380A>T (p.His127Leu)
|
rs863224789
|
|
|
NM_024675.4(PALB2):c.385C>T (p.Pro129Ser)
|
rs1174443228
|
|
|
NM_024675.4(PALB2):c.387C>T (p.Pro129=)
|
rs1253286227
|
|
|
NM_024675.4(PALB2):c.388C>A (p.His130Asn)
|
rs1555461809
|
|
|
NM_024675.4(PALB2):c.388C>T (p.His130Tyr)
|
rs1555461809
|
|
|
NM_024675.4(PALB2):c.389A>C (p.His130Pro)
|
rs1967050224
|
|
|
NM_024675.4(PALB2):c.38A>T (p.Glu13Val)
|
rs876658288
|
|
|
NM_024675.4(PALB2):c.390del (p.His130fs)
|
rs2142444567
|
|
|
NM_024675.4(PALB2):c.392G>A (p.Arg131Lys)
|
rs1597099403
|
|
|
NM_024675.4(PALB2):c.393G>A (p.Arg131=)
|
|
|
|
NM_024675.4(PALB2):c.393G>C (p.Arg131Ser)
|
rs864622461
|
|
|
NM_024675.4(PALB2):c.394G>A (p.Val132Ile)
|
rs1555461807
|
|
|
NM_024675.4(PALB2):c.394G>T (p.Val132Phe)
|
|
|
|
NM_024675.4(PALB2):c.396C>A (p.Val132=)
|
rs1567222949
|
|
|
NM_024675.4(PALB2):c.396_397del (p.Val132_Ser133insTer)
|
rs1567222943
|
|
|
NM_024675.4(PALB2):c.397A>G (p.Ser133Gly)
|
rs730881881
|
|
|
NM_024675.4(PALB2):c.398G>A (p.Ser133Asn)
|
rs864622411
|
|
|
NM_024675.4(PALB2):c.398G>C (p.Ser133Thr)
|
rs864622411
|
|
|
NM_024675.4(PALB2):c.398G>T (p.Ser133Ile)
|
rs864622411
|
|
|
NM_024675.4(PALB2):c.399T>C (p.Ser133=)
|
|
|
|
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.3G>T (p.Met1Ile)
|
|
|
|
NM_024675.4(PALB2):c.402C>T (p.Asp134=)
|
|
|
|
NM_024675.4(PALB2):c.404C>G (p.Pro135Arg)
|
rs1597099361
|
|
|
NM_024675.4(PALB2):c.404C>T (p.Pro135Leu)
|
rs1597099361
|
|
|
NM_024675.4(PALB2):c.406A>G (p.Ser136Gly)
|
rs144496685
|
|
|
NM_024675.4(PALB2):c.407G>A (p.Ser136Asn)
|
|
|
|
NM_024675.4(PALB2):c.408T>C (p.Ser136=)
|
|
|
|
NM_024675.4(PALB2):c.408T>G (p.Ser136Arg)
|
rs112202375
|
|
|
NM_024675.4(PALB2):c.410G>T (p.Gly137Val)
|
rs1567222904
|
|
|
NM_024675.4(PALB2):c.412G>T (p.Glu138Ter)
|
|
|
|
NM_024675.4(PALB2):c.413A>C (p.Glu138Ala)
|
rs1322095182
|
|
|
NM_024675.4(PALB2):c.413_414dup (p.Gln139fs)
|
|
|
|
NM_024675.4(PALB2):c.416A>C (p.Gln139Pro)
|
rs1555461800
|
|
|
NM_024675.4(PALB2):c.416A>G (p.Gln139Arg)
|
rs1555461800
|
|
|
NM_024675.4(PALB2):c.419del (p.Lys140fs)
|
rs1597099331
|
|
|
NM_024675.4(PALB2):c.419dup (p.Gln141fs)
|
rs1597099331
|
|
|
NM_024675.4(PALB2):c.41A>G (p.Lys14Arg)
|
rs1555462506
|
|
|
NM_024675.4(PALB2):c.420del (p.Lys140fs)
|
rs2142443848
|
|
|
NM_024675.4(PALB2):c.421C>T (p.Gln141Ter)
|
rs886039686
|
|
|
NM_024675.4(PALB2):c.421del (p.Gln141fs)
|
|
|
|
NM_024675.4(PALB2):c.422A>G (p.Gln141Arg)
|
|
|
|
NM_024675.4(PALB2):c.423G>A (p.Gln141=)
|
rs786202680
|
|
|
NM_024675.4(PALB2):c.425del (p.Lys142fs)
|
rs2142443741
|
|
|
NM_024675.4(PALB2):c.426G>A (p.Lys142=)
|
rs1967047677
|
|
|
NM_024675.4(PALB2):c.427C>T (p.Leu143=)
|
rs1597099297
|
|
|
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.430C>G (p.Pro144Ala)
|
rs1555461798
|
|
|
NM_024675.4(PALB2):c.431C>T (p.Pro144Leu)
|
rs2142443551
|
|
|
NM_024675.4(PALB2):c.432A>G (p.Pro144=)
|
rs1555461797
|
|
|
NM_024675.4(PALB2):c.433A>G (p.Ser145Gly)
|
rs2142443524
|
|
|
NM_024675.4(PALB2):c.435C>T (p.Ser145=)
|
|
|
|
NM_024675.4(PALB2):c.437G>A (p.Arg146Lys)
|
rs2142443443
|
|
|
NM_024675.4(PALB2):c.437G>C (p.Arg146Thr)
|
|
|
|
NM_024675.4(PALB2):c.437GAA[1] (p.Arg147del)
|
rs760629975
|
|
|
NM_024675.4(PALB2):c.438_450del (p.Arg146fs)
|
rs2142443124
|
|
|
NM_024675.4(PALB2):c.43G>C (p.Glu15Gln)
|
|
|
|
NM_024675.4(PALB2):c.43G>T (p.Glu15Ter)
|
rs730881884
|
|
|
NM_024675.4(PALB2):c.440G>A (p.Arg147Lys)
|
rs1597099275
|
|
|
NM_024675.4(PALB2):c.442A>C (p.Lys148Gln)
|
rs2142443334
|
|
|
NM_024675.4(PALB2):c.442A>G (p.Lys148Glu)
|
|
|
|
NM_024675.4(PALB2):c.442A>T (p.Lys148Ter)
|
|
|
|
NM_024675.4(PALB2):c.442_457del (p.Lys148fs)
|
|
|
|
NM_024675.4(PALB2):c.442_457dup (p.Arg153fs)
|
rs1555461790
|
|
|
NM_024675.4(PALB2):c.443_446del (p.Lys148fs)
|
|
|
|
NM_024675.4(PALB2):c.444G>A (p.Lys148=)
|
rs1060502782
|
|
|
NM_024675.4(PALB2):c.444G>C (p.Lys148Asn)
|
rs1060502782
|
|
|
NM_024675.4(PALB2):c.444_445del (p.Lys149fs)
|
rs757860709
|
|
|
NM_024675.4(PALB2):c.444del (p.Lys149fs)
|
rs1555461796
|
|
|
NM_024675.4(PALB2):c.448C>A (p.Gln150Lys)
|
|
|
|
NM_024675.4(PALB2):c.448C>G (p.Gln150Glu)
|
rs1597099241
|
|
|
NM_024675.4(PALB2):c.44A>T (p.Glu15Val)
|
rs1555462501
|
|
|
NM_024675.4(PALB2):c.450G>C (p.Gln150His)
|
rs2142443097
|
|
|
NM_024675.4(PALB2):c.450G>T (p.Gln150His)
|
rs2142443097
|
|
|
NM_024675.4(PALB2):c.451C>A (p.Gln151Lys)
|
rs587776407
|
|
|
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter)
|
rs587776407
|
|
|
NM_024675.4(PALB2):c.452A>T (p.Gln151Leu)
|
rs1967046234
|
|
|
NM_024675.4(PALB2):c.454A>T (p.Lys152Ter)
|
|
|
|
NM_024675.4(PALB2):c.456G>A (p.Lys152=)
|
rs2142442964
|
|
|
NM_024675.4(PALB2):c.457A>C (p.Arg153=)
|
rs1375458252
|
|
|
NM_024675.4(PALB2):c.458G>A (p.Arg153Lys)
|
rs1967045901
|
|
|
NM_024675.4(PALB2):c.459G>A (p.Arg153=)
|
rs876658633
|
|
|
NM_024675.4(PALB2):c.45A>G (p.Glu15=)
|
rs1060504718
|
|
|
NM_024675.4(PALB2):c.462A>T (p.Thr154=)
|
|
|
|
NM_024675.4(PALB2):c.464T>C (p.Phe155Ser)
|
rs1167005475
|
|
|
NM_024675.4(PALB2):c.464T>G (p.Phe155Cys)
|
rs1167005475
|
|
|
NM_024675.4(PALB2):c.466_467del (p.Ile156fs)
|
rs876659405
|
|
|
NM_024675.4(PALB2):c.467T>C (p.Ile156Thr)
|
|
|
|
NM_024675.4(PALB2):c.470C>A (p.Ser157Ter)
|
|
|
|
NM_024675.4(PALB2):c.472C>T (p.Gln158Ter)
|
rs879254197
|
|
|
NM_024675.4(PALB2):c.474G>A (p.Gln158=)
|
rs878855119
|
|
|
NM_024675.4(PALB2):c.474G>C (p.Gln158His)
|
rs878855119
|
|
|
NM_024675.4(PALB2):c.475G>T (p.Glu159Ter)
|
rs1555461788
|
|
|
NM_024675.4(PALB2):c.476A>G (p.Glu159Gly)
|
rs1555461786
|
|
|
NM_024675.4(PALB2):c.477G>A (p.Glu159=)
|
rs1163253431
|
|
|
NM_024675.4(PALB2):c.479G>A (p.Arg160Lys)
|
rs2142442427
|
|
|
NM_024675.4(PALB2):c.47A>G (p.Lys16Arg)
|
rs1064795514
|
|
|
NM_024675.4(PALB2):c.48+10G>A
|
rs1311681895
|
|
|
NM_024675.4(PALB2):c.48+10G>T
|
rs1311681895
|
|
|
NM_024675.4(PALB2):c.48+10dup
|
rs1567225760
|
|
|
NM_024675.4(PALB2):c.48+13C>A
|
rs1226428051
|
|
|
NM_024675.4(PALB2):c.48+13C>T
|
rs1226428051
|
|
|
NM_024675.4(PALB2):c.48+14G>C
|
|
|
|
NM_024675.4(PALB2):c.48+15G>A
|
rs2142480406
|
|
|
NM_024675.4(PALB2):c.48+16G>A
|
rs759520257
|
|
|
NM_024675.4(PALB2):c.48+16G>C
|
|
|
|
NM_024675.4(PALB2):c.48+18A>G
|
|
|
|
NM_024675.4(PALB2):c.48+19G>C
|
rs1057523580
|
|
|
NM_024675.4(PALB2):c.48+1G>A
|
rs515726118
|
|
|
NM_024675.4(PALB2):c.48+1G>C
|
rs515726118
|
|
|
NM_024675.4(PALB2):c.48+1G>T
|
rs515726118
|
|
|
NM_024675.4(PALB2):c.48+20G>A
|
rs201765609
|
|
|
NM_024675.4(PALB2):c.48+3G>A
|
|
|
|
NM_024675.4(PALB2):c.48+3G>C
|
|
|
|
NM_024675.4(PALB2):c.48+4C>A
|
|
|
|
NM_024675.4(PALB2):c.48+5C>T
|
rs1555462488
|
|
|
NM_024675.4(PALB2):c.48+6G>A
|
rs1555462487
|
|
|
NM_024675.4(PALB2):c.48+6G>C
|
rs1555462487
|
|
|
NM_024675.4(PALB2):c.48+7G>A
|
|
|
|
NM_024675.4(PALB2):c.48+8G>A
|
rs2142480527
|
|
|
NM_024675.4(PALB2):c.48+8G>C
|
|
|
|
NM_024675.4(PALB2):c.48+9G>A
|
rs1782502330
|
|
|
NM_024675.4(PALB2):c.48+9G>T
|
|
|
|
NM_024675.4(PALB2):c.480A>G (p.Arg160=)
|
rs1555461782
|
|
|
NM_024675.4(PALB2):c.481_482del (p.Asp161fs)
|
rs1597099149
|
|
|
NM_024675.4(PALB2):c.482A>T (p.Asp161Val)
|
|
|
|
NM_024675.4(PALB2):c.483C>G (p.Asp161Glu)
|
rs371627753
|
|
|
NM_024675.4(PALB2):c.483C>T (p.Asp161=)
|
rs371627753
|
|
|
NM_024675.4(PALB2):c.484T>C (p.Cys162Arg)
|
|
|
|
NM_024675.4(PALB2):c.484T>G (p.Cys162Gly)
|
|
|
|
NM_024675.4(PALB2):c.485G>A (p.Cys162Tyr)
|
rs1555461779
|
|
|
NM_024675.4(PALB2):c.485G>C (p.Cys162Ser)
|
rs1555461779
|
|
|
NM_024675.4(PALB2):c.487_488del (p.Val163fs)
|
rs745533713
|
|
|
NM_024675.4(PALB2):c.488T>G (p.Val163Gly)
|
|
|
|
NM_024675.4(PALB2):c.489C>G (p.Val163=)
|
rs1967043668
|
|
|
NM_024675.4(PALB2):c.48G>A (p.Lys16=)
|
rs587776405
|
|
|
NM_024675.4(PALB2):c.49-10C>T
|
|
|
|
NM_024675.4(PALB2):c.49-1123C>G
|
rs2142467185
|
|
|
NM_024675.4(PALB2):c.49-13T>C
|
rs2142461422
|
|
|
NM_024675.4(PALB2):c.49-173G>T
|
rs515726120
|
|
|
NM_024675.4(PALB2):c.49-17T>G
|
|
|
|
NM_024675.4(PALB2):c.49-2A>G
|
|
|
|
NM_024675.4(PALB2):c.49-2A>T
|
rs786203245
|
|
|
NM_024675.4(PALB2):c.49-2del
|
rs1597101949
|
|
|
NM_024675.4(PALB2):c.49-3C>A
|
|
|
|
NM_024675.4(PALB2):c.49-3C>T
|
|
|
|
NM_024675.4(PALB2):c.49-432A>G
|
rs1597102250
|
|
|
NM_024675.4(PALB2):c.49-54C>T
|
rs515726121
|
|
|
NM_024675.4(PALB2):c.491T>G (p.Phe164Cys)
|
|
|
|
NM_024675.4(PALB2):c.493G>A (p.Gly165Ser)
|
rs1967043594
|
|
|
NM_024675.4(PALB2):c.494G>A (p.Gly165Asp)
|
rs1567222798
|
|
|
NM_024675.4(PALB2):c.498T>A (p.Thr166=)
|
rs1597099121
|
|
|
NM_024675.4(PALB2):c.498T>C (p.Thr166=)
|
rs1597099121
|
|
|
NM_024675.4(PALB2):c.499G>A (p.Asp167Asn)
|
|
|
|
NM_024675.4(PALB2):c.4G>A (p.Asp2Asn)
|
|
|
|
NM_024675.4(PALB2):c.500_513del (p.Asp167fs)
|
rs876660719
|
|
|
NM_024675.4(PALB2):c.502T>G (p.Ser168Ala)
|
rs2142441892
|
|
|
NM_024675.4(PALB2):c.502dup (p.Ser168fs)
|
rs1555461777
|
|
|
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter)
|
rs515726122
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NM_024675.4(PALB2):c.503C>G (p.Ser168Ter)
|
rs515726122
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NM_024675.4(PALB2):c.503C>T (p.Ser168Leu)
|
rs515726122
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NM_024675.4(PALB2):c.505C>A (p.Leu169Ile)
|
rs180177086
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NM_024675.4(PALB2):c.505C>G (p.Leu169Val)
|
rs180177086
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NM_024675.4(PALB2):c.506T>C (p.Leu169Pro)
|
rs2142441769
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NM_024675.4(PALB2):c.508A>C (p.Arg170=)
|
rs864622622
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NM_024675.4(PALB2):c.508A>G (p.Arg170Gly)
|
rs864622622
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NM_024675.4(PALB2):c.509G>C (p.Arg170Thr)
|
rs898765598
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NM_024675.4(PALB2):c.509G>T (p.Arg170Ile)
|
rs898765598
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NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
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NM_024675.4(PALB2):c.50T>A (p.Leu17Ter)
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NM_024675.4(PALB2):c.50T>G (p.Leu17Ter)
|
rs1567224232
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NM_024675.4(PALB2):c.510A>C (p.Arg170Ser)
|
rs1060502796
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NM_024675.4(PALB2):c.510A>G (p.Arg170=)
|
rs1060502796
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NM_024675.4(PALB2):c.510A>T (p.Arg170Ser)
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NM_024675.4(PALB2):c.511T>A (p.Leu171Met)
|
rs863224790
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NM_024675.4(PALB2):c.512T>A (p.Leu171Ter)
|
rs876658979
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NM_024675.4(PALB2):c.513G>A (p.Leu171=)
|
rs1251724216
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NM_024675.4(PALB2):c.513G>C (p.Leu171Phe)
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NM_024675.4(PALB2):c.514T>C (p.Ser172Pro)
|
rs1967041594
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NM_024675.4(PALB2):c.514_517del (p.Ser172fs)
|
rs1555461765
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NM_024675.4(PALB2):c.515C>G (p.Ser172Cys)
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NM_024675.4(PALB2):c.515C>T (p.Ser172Phe)
|
rs1597099026
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NM_024675.4(PALB2):c.517G>A (p.Gly173Arg)
|
rs878855121
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NM_024675.4(PALB2):c.517G>T (p.Gly173Trp)
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NM_024675.4(PALB2):c.519del (p.Arg175fs)
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NM_024675.4(PALB2):c.51A>G (p.Leu17=)
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NM_024675.4(PALB2):c.520A>C (p.Lys174Gln)
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NM_024675.4(PALB2):c.520A>G (p.Lys174Glu)
|
rs2142441340
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NM_024675.4(PALB2):c.521A>G (p.Lys174Arg)
|
rs730881902
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NM_024675.4(PALB2):c.521_522insCA (p.Lys174fs)
|
rs1597098996
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NM_024675.4(PALB2):c.522A>G (p.Lys174=)
|
rs1555461754
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NM_024675.4(PALB2):c.522_523del (p.Arg175fs)
|
rs875989789
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NM_024675.4(PALB2):c.523del (p.Arg175fs)
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NM_024675.4(PALB2):c.524G>A (p.Arg175Lys)
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NM_024675.4(PALB2):c.524delinsAT (p.Arg175fs)
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NM_024675.4(PALB2):c.525A>G (p.Arg175=)
|
rs1555461747
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NM_024675.4(PALB2):c.526C>G (p.Leu176Val)
|
rs1211622922
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NM_024675.4(PALB2):c.527T>C (p.Leu176Pro)
|
rs1567222733
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NM_024675.4(PALB2):c.527_531del (p.Leu176fs)
|
rs1597098971
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NM_024675.4(PALB2):c.52A>C (p.Lys18Gln)
|
rs2142461206
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NM_024675.4(PALB2):c.532G>A (p.Glu178Lys)
|
rs1597098960
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NM_024675.4(PALB2):c.532G>T (p.Glu178Ter)
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NM_024675.4(PALB2):c.532del (p.Glu178fs)
|
rs1567222725
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NM_024675.4(PALB2):c.535C>G (p.Gln179Glu)
|
rs730881903
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NM_024675.4(PALB2):c.535C>T (p.Gln179Ter)
|
rs730881903
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NM_024675.4(PALB2):c.538G>A (p.Glu180Lys)
|
rs750782778
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NM_024675.4(PALB2):c.538G>T (p.Glu180Ter)
|
rs750782778
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NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT (p.Glu180Ter)
|
rs1597098943
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NM_024675.4(PALB2):c.541G>T (p.Glu181Ter)
|
rs864622280
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NM_024675.4(PALB2):c.543A>G (p.Glu181=)
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NM_024675.4(PALB2):c.544A>G (p.Ile182Val)
|
rs1567222712
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NM_024675.4(PALB2):c.544del (p.Ile182fs)
|
rs886039614
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NM_024675.4(PALB2):c.545T>C (p.Ile182Thr)
|
rs1967039388
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NM_024675.4(PALB2):c.547del (p.Ser183fs)
|
rs2142440747
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NM_024675.4(PALB2):c.548del (p.Ser183fs)
|
rs1064795953
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NM_024675.4(PALB2):c.550A>G (p.Ser184Gly)
|
rs1597098904
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NM_024675.4(PALB2):c.551G>C (p.Ser184Thr)
|
rs587780220
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NM_024675.4(PALB2):c.552del (p.Ser184fs)
|
rs1060502738
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NM_024675.4(PALB2):c.553A>G (p.Lys185Glu)
|
rs1967038738
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NM_024675.4(PALB2):c.557A>C (p.Asn186Thr)
|
rs587782164
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NM_024675.4(PALB2):c.557A>G (p.Asn186Ser)
|
rs587782164
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NM_024675.4(PALB2):c.557A>T (p.Asn186Ile)
|
rs587782164
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NM_024675.4(PALB2):c.557dup (p.Asn186fs)
|
rs1555461727
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NM_024675.4(PALB2):c.559C>T (p.Pro187Ser)
|
rs1597098885
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NM_024675.4(PALB2):c.55G>T (p.Glu19Ter)
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NM_024675.4(PALB2):c.562G>T (p.Ala188Ser)
|
rs1967038001
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NM_024675.4(PALB2):c.562del (p.Ala188fs)
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NM_024675.4(PALB2):c.565A>G (p.Arg189Gly)
|
rs1967037808
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NM_024675.4(PALB2):c.566G>A (p.Arg189Lys)
|
rs764180110
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NM_024675.4(PALB2):c.566G>C (p.Arg189Thr)
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NM_024675.4(PALB2):c.567A>C (p.Arg189Ser)
|
rs1597098858
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NM_024675.4(PALB2):c.567A>G (p.Arg189=)
|
rs1597098858
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NM_024675.4(PALB2):c.568T>A (p.Ser190Thr)
|
rs1967037502
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NM_024675.4(PALB2):c.569_572delinsTTTTGT (p.Ser190fs)
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NM_024675.4(PALB2):c.56_57insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCGAAATTAGCATTCTT (p.Glu19delinsAspPhePhePhePhePhePheXaaXaaXaaXaaArgAspGlyValSerProCysTer)
|
rs2142461122
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NM_024675.4(PALB2):c.570A>C (p.Ser190=)
|
rs1967037408
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NM_024675.4(PALB2):c.571C>A (p.Pro191Thr)
|
rs587780221
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NM_024675.4(PALB2):c.571C>G (p.Pro191Ala)
|
rs587780221
|
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NM_024675.4(PALB2):c.571C>T (p.Pro191Ser)
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NM_024675.4(PALB2):c.572C>G (p.Pro191Arg)
|
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NM_024675.4(PALB2):c.572C>T (p.Pro191Leu)
|
rs1001733949
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NM_024675.4(PALB2):c.573_595dup (p.Leu199delinsGlnTer)
|
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NM_024675.4(PALB2):c.576A>G (p.Val192=)
|
rs2142440064
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NM_024675.4(PALB2):c.577A>G (p.Thr193Ala)
|
rs1967037000
|
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NM_024675.4(PALB2):c.577dup (p.Thr193fs)
|
rs875989790
|
|
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NM_024675.4(PALB2):c.578C>T (p.Thr193Ile)
|
rs876659823
|
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NM_024675.4(PALB2):c.57G>C (p.Glu19Asp)
|
rs1967112979
|
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NM_024675.4(PALB2):c.57_58del (p.Lys20fs)
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NM_024675.4(PALB2):c.580G>A (p.Glu194Lys)
|
rs1967036814
|
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NM_024675.4(PALB2):c.580_584del (p.Glu194fs)
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NM_024675.4(PALB2):c.583A>G (p.Ile195Val)
|
rs760784181
|
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NM_024675.4(PALB2):c.583del (p.Glu194_Ile195insTer)
|
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NM_024675.4(PALB2):c.584T>G (p.Ile195Arg)
|
rs587782260
|
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NM_024675.4(PALB2):c.586A>C (p.Arg196=)
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NM_024675.4(PALB2):c.587G>T (p.Arg196Ile)
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NM_024675.4(PALB2):c.58A>T (p.Lys20Ter)
|
rs2142461082
|
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NM_024675.4(PALB2):c.591T>A (p.Thr197=)
|
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NM_024675.4(PALB2):c.591T>C (p.Thr197=)
|
rs773073532
|
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NM_024675.4(PALB2):c.592C>T (p.His198Tyr)
|
rs1967036024
|
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NM_024675.4(PALB2):c.593del (p.His198fs)
|
|
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NM_024675.4(PALB2):c.594C>T (p.His198=)
|
rs1555461716
|
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NM_024675.4(PALB2):c.595C>A (p.Leu199Ile)
|
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NM_024675.4(PALB2):c.595C>T (p.Leu199Phe)
|
rs876660851
|
|
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NM_024675.4(PALB2):c.595del (p.Leu199fs)
|
rs2142439618
|
|
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NM_024675.4(PALB2):c.596T>A (p.Leu199His)
|
|
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NM_024675.4(PALB2):c.599T>C (p.Leu200Ser)
|
rs1967035557
|
|
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NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer)
|
rs587782081
|
|
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NM_024675.4(PALB2):c.599dup (p.Leu200fs)
|
|
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NM_024675.4(PALB2):c.600A>G (p.Leu200=)
|
rs1555461714
|
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NM_024675.4(PALB2):c.601A>C (p.Ser201Arg)
|
|
|
|
NM_024675.4(PALB2):c.601dup (p.Ser201fs)
|
rs886041220
|
|
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NM_024675.4(PALB2):c.602G>A (p.Ser201Asn)
|
rs1060502790
|
|
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NM_024675.4(PALB2):c.603T>A (p.Ser201Arg)
|
rs769647912
|
|
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NM_024675.4(PALB2):c.604C>G (p.Leu202Val)
|
rs1597098794
|
|
|
NM_024675.4(PALB2):c.604C>T (p.Leu202Phe)
|
rs1597098794
|
|
|
NM_024675.4(PALB2):c.607A>G (p.Lys203Glu)
|
|
|
|
NM_024675.4(PALB2):c.608A>C (p.Lys203Thr)
|
|
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NM_024675.4(PALB2):c.609del (p.Lys203fs)
|
|
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|
NM_024675.4(PALB2):c.60A>G (p.Lys20=)
|
rs1196162944
|
|
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NM_024675.4(PALB2):c.611C>G (p.Ser204Cys)
|
rs1567222638
|
|
|
NM_024675.4(PALB2):c.615A>C (p.Glu205Asp)
|
rs748128739
|
|
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NM_024675.4(PALB2):c.617T>G (p.Leu206Arg)
|
|
|
|
NM_024675.4(PALB2):c.618T>A (p.Leu206=)
|
rs180177088
|
|
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NM_024675.4(PALB2):c.618T>G (p.Leu206=)
|
rs180177088
|
|
|
NM_024675.4(PALB2):c.619C>A (p.Pro207Thr)
|
rs374090568
|
|
|
NM_024675.4(PALB2):c.619C>T (p.Pro207Ser)
|
rs374090568
|
|
|
NM_024675.4(PALB2):c.61T>G (p.Leu21Val)
|
|
|
|
NM_024675.4(PALB2):c.620C>G (p.Pro207Arg)
|
rs515726125
|
|
|
NM_024675.4(PALB2):c.620del (p.Pro207fs)
|
rs1555461704
|
|
|
NM_024675.4(PALB2):c.621A>T (p.Pro207=)
|
rs1555461703
|
|
|
NM_024675.4(PALB2):c.622G>C (p.Asp208His)
|
rs1597098746
|
|
|
NM_024675.4(PALB2):c.623A>C (p.Asp208Ala)
|
rs1555461702
|
|
|
NM_024675.4(PALB2):c.623A>G (p.Asp208Gly)
|
|
|
|
NM_024675.4(PALB2):c.623A>T (p.Asp208Val)
|
rs1555461702
|
|
|
NM_024675.4(PALB2):c.625del (p.Ser209fs)
|
rs1597098739
|
|
|
NM_024675.4(PALB2):c.626C>T (p.Ser209Phe)
|
rs1567222610
|
|
|
NM_024675.4(PALB2):c.628C>A (p.Pro210Thr)
|
rs878976819
|
|
|
NM_024675.4(PALB2):c.628C>G (p.Pro210Ala)
|
rs878976819
|
|
|
NM_024675.4(PALB2):c.62T>C (p.Leu21Ser)
|
rs769240800
|
|
|
NM_024675.4(PALB2):c.62del (p.Lys20_Leu21insTer)
|
|
|
|
NM_024675.4(PALB2):c.630A>G (p.Pro210=)
|
rs1234068504
|
|
|
NM_024675.4(PALB2):c.631G>C (p.Glu211Gln)
|
|
|
|
NM_024675.4(PALB2):c.632A>G (p.Glu211Gly)
|
rs180177089
|
|
|
NM_024675.4(PALB2):c.634C>G (p.Pro212Ala)
|
rs1967032913
|
|
|
NM_024675.4(PALB2):c.634C>T (p.Pro212Ser)
|
|
|
|
NM_024675.4(PALB2):c.635C>G (p.Pro212Arg)
|
rs1060502742
|
|
|
NM_024675.4(PALB2):c.635del (p.Pro212fs)
|
rs1555461697
|
|
|
NM_024675.4(PALB2):c.637G>C (p.Val213Leu)
|
rs786203875
|
|
|
NM_024675.4(PALB2):c.638T>A (p.Val213Asp)
|
rs1967032445
|
|
|
NM_024675.4(PALB2):c.639del (p.Thr214fs)
|
rs1555461695
|
|
|
NM_024675.4(PALB2):c.640dup (p.Thr214fs)
|
|
|
|
NM_024675.4(PALB2):c.641C>A (p.Thr214Lys)
|
rs1967032138
|
|
|
NM_024675.4(PALB2):c.642A>G (p.Thr214=)
|
rs1597098691
|
|
|
NM_024675.4(PALB2):c.643G>A (p.Glu215Lys)
|
rs1555461693
|
|
|
NM_024675.4(PALB2):c.643G>T (p.Glu215Ter)
|
rs1555461693
|
|
|
NM_024675.4(PALB2):c.646del (p.Ile216fs)
|
rs1597098679
|
|
|
NM_024675.4(PALB2):c.647T>C (p.Ile216Thr)
|
rs1967031858
|
|
|
NM_024675.4(PALB2):c.648T>G (p.Ile216Met)
|
rs1597098670
|
|
|
NM_024675.4(PALB2):c.64G>C (p.Ala22Pro)
|
rs1473970758
|
|
|
NM_024675.4(PALB2):c.651T>C (p.Asn217=)
|
rs1555461692
|
|
|
NM_024675.4(PALB2):c.652G>A (p.Glu218Lys)
|
rs2142438340
|
|
|
NM_024675.4(PALB2):c.652G>T (p.Glu218Ter)
|
rs2142438340
|
|
|
NM_024675.4(PALB2):c.653A>T (p.Glu218Val)
|
rs2142438331
|
|
|
NM_024675.4(PALB2):c.654del (p.Asp219fs)
|
rs587781697
|
|
|
NM_024675.4(PALB2):c.657C>T (p.Asp219=)
|
|
|
|
NM_024675.4(PALB2):c.658A>G (p.Ser220Gly)
|
rs2142438155
|
|
|
NM_024675.4(PALB2):c.658del (p.Ser220fs)
|
rs876659328
|
|
|
NM_024675.4(PALB2):c.659G>A (p.Ser220Asn)
|
rs2142438106
|
|
|
NM_024675.4(PALB2):c.659G>C (p.Ser220Thr)
|
rs2142438106
|
|
|
NM_024675.4(PALB2):c.65C>T (p.Ala22Val)
|
rs1967112519
|
|
|
NM_024675.4(PALB2):c.661_662del (p.Val221fs)
|
|
|
|
NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter)
|
rs587782531
|
|
|
NM_024675.4(PALB2):c.662T>C (p.Val221Ala)
|
rs1967030851
|
|
|
NM_024675.4(PALB2):c.663A>T (p.Val221=)
|
|
|
|
NM_024675.4(PALB2):c.664_666del (p.Leu222del)
|
rs1400223274
|
|
|
NM_024675.4(PALB2):c.665T>A (p.Leu222Ter)
|
rs2142437926
|
|
|
NM_024675.4(PALB2):c.665T>C (p.Leu222Ser)
|
rs2142437926
|
|
|
NM_024675.4(PALB2):c.666_669del (p.Leu222fs)
|
rs1555461683
|
|
|
NM_024675.4(PALB2):c.66A>G (p.Ala22=)
|
rs1057520982
|
|
|
NM_024675.4(PALB2):c.670_671delinsAT (p.Pro224Ile)
|
|
|
|
NM_024675.4(PALB2):c.671C>T (p.Pro224Leu)
|
|
|
|
NM_024675.4(PALB2):c.673C>T (p.Pro225Ser)
|
rs1060502749
|
|
|
NM_024675.4(PALB2):c.674dup (p.Thr226fs)
|
rs1967030083
|
|
|
NM_024675.4(PALB2):c.675A>G (p.Pro225=)
|
rs1555461681
|
|
|
NM_024675.4(PALB2):c.676A>G (p.Thr226Ala)
|
rs1555461680
|
|
|
NM_024675.4(PALB2):c.678T>A (p.Thr226=)
|
rs1967029721
|
|
|
NM_024675.4(PALB2):c.679G>A (p.Ala227Thr)
|
rs1555461678
|
|
|
NM_024675.4(PALB2):c.679G>T (p.Ala227Ser)
|
|
|
|
NM_024675.4(PALB2):c.681C>T (p.Ala227=)
|
|
|
|
NM_024675.4(PALB2):c.682del (p.Gln228fs)
|
rs1567222523
|
|
|
NM_024675.4(PALB2):c.684A>G (p.Gln228=)
|
rs1967029347
|
|
|
NM_024675.4(PALB2):c.686C>G (p.Pro229Arg)
|
|
|
|
NM_024675.4(PALB2):c.687A>G (p.Pro229=)
|
|
|
|
NM_024675.4(PALB2):c.688G>T (p.Glu230Ter)
|
rs730881905
|
|
|
NM_024675.4(PALB2):c.689A>C (p.Glu230Ala)
|
rs1567222506
|
|
|
NM_024675.4(PALB2):c.689A>G (p.Glu230Gly)
|
rs1567222506
|
|
|
NM_024675.4(PALB2):c.691A>T (p.Lys231Ter)
|
rs2142437289
|
|
|
NM_024675.4(PALB2):c.693A>T (p.Lys231Asn)
|
rs876658847
|
|
|
NM_024675.4(PALB2):c.693del (p.Gly232fs)
|
rs875989791
|
|
|
NM_024675.4(PALB2):c.693dup (p.Gly232fs)
|
rs875989791
|
|
|
NM_024675.4(PALB2):c.694G>T (p.Gly232Cys)
|
rs1967028555
|
|
|
NM_024675.4(PALB2):c.695G>C (p.Gly232Ala)
|
|
|
|
NM_024675.4(PALB2):c.695G>T (p.Gly232Val)
|
rs1365024903
|
|
|
NM_024675.4(PALB2):c.695del (p.Gly232fs)
|
rs1060502769
|
|
|
NM_024675.4(PALB2):c.696T>C (p.Gly232=)
|
rs1597098550
|
|
|
NM_024675.4(PALB2):c.696dup (p.Val233fs)
|
rs1967028249
|
|
|
NM_024675.4(PALB2):c.697del (p.Val233fs)
|
rs180177090
|
|
|
NM_024675.4(PALB2):c.700G>C (p.Asp234His)
|
rs868149939
|
|
|
NM_024675.4(PALB2):c.701A>T (p.Asp234Val)
|
rs1967027890
|
|
|
NM_024675.4(PALB2):c.703A>G (p.Thr235Ala)
|
|
|
|
NM_024675.4(PALB2):c.703dup (p.Thr235fs)
|
rs1967027806
|
|
|
NM_024675.4(PALB2):c.704C>G (p.Thr235Arg)
|
|
|
|
NM_024675.4(PALB2):c.704C>T (p.Thr235Ile)
|
rs1385914265
|
|
|
NM_024675.4(PALB2):c.705A>G (p.Thr235=)
|
|
|
|
NM_024675.4(PALB2):c.706T>A (p.Phe236Ile)
|
rs1196649458
|
|
|
NM_024675.4(PALB2):c.707dup (p.Leu237fs)
|
rs876658192
|
|
|
NM_024675.4(PALB2):c.710T>A (p.Leu237Gln)
|
|
|
|
NM_024675.4(PALB2):c.711A>C (p.Leu237=)
|
|
|
|
NM_024675.4(PALB2):c.712A>G (p.Arg238Gly)
|
rs779278389
|
|
|
NM_024675.4(PALB2):c.712A>T (p.Arg238Ter)
|
rs779278389
|
|
|
NM_024675.4(PALB2):c.712AGA[1] (p.Arg239del)
|
rs1567222475
|
|
|
NM_024675.4(PALB2):c.713G>A (p.Arg238Lys)
|
rs1567222480
|
|
|
NM_024675.4(PALB2):c.715A>G (p.Arg239Gly)
|
rs1967026821
|
|
|
NM_024675.4(PALB2):c.715A>T (p.Arg239Ter)
|
|
|
|
NM_024675.4(PALB2):c.715del (p.Arg239fs)
|
rs1567222476
|
|
|
NM_024675.4(PALB2):c.717A>T (p.Arg239Ser)
|
|
|
|
NM_024675.4(PALB2):c.719C>A (p.Pro240His)
|
|
|
|
NM_024675.4(PALB2):c.719C>G (p.Pro240Arg)
|
rs1466115155
|
|
|
NM_024675.4(PALB2):c.719C>T (p.Pro240Leu)
|
rs1466115155
|
|
|
NM_024675.4(PALB2):c.71T>C (p.Leu24Ser)
|
rs876658653
|
|
|
NM_024675.4(PALB2):c.71T>G (p.Leu24Trp)
|
|
|
|
NM_024675.4(PALB2):c.71_72insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCGAAATTAGCATTCTT (p.Leu24delinsPhePhePhePhePhePhePheXaaXaaXaaXaaArgAspGlyValSerProCysTer)
|
rs2142460813
|
|
|
NM_024675.4(PALB2):c.720T>G (p.Pro240=)
|
|
|
|
NM_024675.4(PALB2):c.720_729del (p.Asn241fs)
|
|
|
|
NM_024675.4(PALB2):c.721A>C (p.Asn241His)
|
rs113217267
|
|
|
NM_024675.4(PALB2):c.722A>G (p.Asn241Ser)
|
rs587780823
|
|
|
NM_024675.4(PALB2):c.722_750del (p.Asn241fs)
|
|
|
|
NM_024675.4(PALB2):c.724T>G (p.Phe242Val)
|
rs1555461663
|
|
|
NM_024675.4(PALB2):c.726_727insTTAGGTCTGTAGA (p.Thr243delinsLeuGlyLeuTer)
|
rs1451309159
|
|
|
NM_024675.4(PALB2):c.727A>C (p.Thr243Pro)
|
rs1060502747
|
|
|
NM_024675.4(PALB2):c.728C>G (p.Thr243Ser)
|
|
|
|
NM_024675.4(PALB2):c.728C>T (p.Thr243Ile)
|
rs1967025917
|
|
|
NM_024675.4(PALB2):c.72G>A (p.Leu24=)
|
rs587781986
|
|
|
NM_024675.4(PALB2):c.72G>T (p.Leu24Phe)
|
|
|
|
NM_024675.4(PALB2):c.72del (p.Arg26fs)
|
rs180177142
|
|
|
NM_024675.4(PALB2):c.730A>C (p.Arg244=)
|
rs2142436206
|
|
|
NM_024675.4(PALB2):c.730A>G (p.Arg244Gly)
|
|
|
|
NM_024675.4(PALB2):c.731G>A (p.Arg244Lys)
|
|
|
|
NM_024675.4(PALB2):c.731G>C (p.Arg244Thr)
|
rs764553978
|
|
|
NM_024675.4(PALB2):c.732G>A (p.Arg244=)
|
rs2142436158
|
|
|
NM_024675.4(PALB2):c.732G>C (p.Arg244Ser)
|
|
|
|
NM_024675.4(PALB2):c.733G>C (p.Ala245Pro)
|
rs886051831
|
|
|
NM_024675.4(PALB2):c.734C>G (p.Ala245Gly)
|
|
|
|
NM_024675.4(PALB2):c.734_735dup (p.Thr246fs)
|
rs749731838
|
|
|
NM_024675.4(PALB2):c.734del (p.Ala245fs)
|
rs2142436112
|
|
|
NM_024675.4(PALB2):c.735G>T (p.Ala245=)
|
rs371612049
|
|
|
NM_024675.4(PALB2):c.736A>T (p.Thr246Ser)
|
rs1555461659
|
|
|
NM_024675.4(PALB2):c.737C>T (p.Thr246Ile)
|
rs1597098443
|
|
|
NM_024675.4(PALB2):c.739_891dup (p.Thr247_Thr297dup)
|
rs1567222088
|
|
|
NM_024675.4(PALB2):c.73A>T (p.Lys25Ter)
|
rs1248579792
|
|
|
NM_024675.4(PALB2):c.740C>G (p.Thr247Arg)
|
rs587782658
|
|
|
NM_024675.4(PALB2):c.742G>C (p.Val248Leu)
|
rs572102702
|
|
|
NM_024675.4(PALB2):c.747T>C (p.Pro249=)
|
rs1967024501
|
|
|
NM_024675.4(PALB2):c.748T>C (p.Leu250=)
|
rs1597098419
|
|
|
NM_024675.4(PALB2):c.750A>G (p.Leu250=)
|
rs2142435624
|
|
|
NM_024675.4(PALB2):c.752A>G (p.Gln251Arg)
|
rs1064795275
|
|
|
NM_024675.4(PALB2):c.753G>A (p.Gln251=)
|
rs863224791
|
|
|
NM_024675.4(PALB2):c.753G>C (p.Gln251His)
|
rs863224791
|
|
|
NM_024675.4(PALB2):c.755C>T (p.Thr252Ile)
|
rs1967023769
|
|
|
NM_024675.4(PALB2):c.756dup (p.Leu253fs)
|
rs1967023691
|
|
|
NM_024675.4(PALB2):c.757C>G (p.Leu253Val)
|
rs565005049
|
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
|
NM_024675.4(PALB2):c.758T>C (p.Leu253Pro)
|
|
|
|
NM_024675.4(PALB2):c.758T>G (p.Leu253Arg)
|
rs2142435363
|
|
|
NM_024675.4(PALB2):c.758_759insG (p.Ser254fs)
|
rs2142435343
|
|
|
NM_024675.4(PALB2):c.758_761delinsGAT (p.Leu253fs)
|
|
|
|
NM_024675.4(PALB2):c.759A>G (p.Leu253=)
|
rs367842489
|
|
|
NM_024675.4(PALB2):c.759_760del (p.Ser254fs)
|
|
|
|
NM_024675.4(PALB2):c.759del (p.Ser254fs)
|
rs1060499830
|
|
|
NM_024675.4(PALB2):c.759dup (p.Ser254fs)
|
rs1967023129
|
|
|
NM_024675.4(PALB2):c.761C>A (p.Ser254Ter)
|
rs864622695
|
|
|
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)
|
rs864622695
|
|
|
NM_024675.4(PALB2):c.761C>T (p.Ser254Leu)
|
|
|
|
NM_024675.4(PALB2):c.761del (p.Leu253_Ser254insTer)
|
rs2142435242
|
|
|
NM_024675.4(PALB2):c.763G>C (p.Asp255His)
|
rs1567222367
|
|
|
NM_024675.4(PALB2):c.766A>G (p.Ser256Gly)
|
rs1967022496
|
|
|
NM_024675.4(PALB2):c.769G>C (p.Gly257Arg)
|
rs587780824
|
|
|
NM_024675.4(PALB2):c.769G>T (p.Gly257Cys)
|
rs587780824
|
|
|
NM_024675.4(PALB2):c.76del (p.Arg26fs)
|
rs1597101885
|
|
|
NM_024675.4(PALB2):c.770del (p.Gly257fs)
|
rs1555461634
|
|
|
NM_024675.4(PALB2):c.772A>G (p.Ser258Gly)
|
|
|
|
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.775A>G (p.Ser259Gly)
|
rs2142434805
|
|
|
NM_024675.4(PALB2):c.777T>A (p.Ser259Arg)
|
rs975045312
|
|
|
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter)
|
rs1555461627
|
|
|
NM_024675.4(PALB2):c.778_779insCC (p.Gln260fs)
|
rs2142434725
|
|
|
NM_024675.4(PALB2):c.779A>G (p.Gln260Arg)
|
rs1597098293
|
|
|
NM_024675.4(PALB2):c.779dup (p.His261fs)
|
|
|
|
NM_024675.4(PALB2):c.77G>T (p.Arg26Met)
|
rs1967111702
|
|
|
NM_024675.4(PALB2):c.781C>A (p.His261Asn)
|
rs1555461626
|
|
|
NM_024675.4(PALB2):c.782A>G (p.His261Arg)
|
|
|
|
NM_024675.4(PALB2):c.782A>T (p.His261Leu)
|
|
|
|
NM_024675.4(PALB2):c.782_783del (p.His261fs)
|
rs1967021173
|
|
|
NM_024675.4(PALB2):c.782dup (p.His261fs)
|
|
|
|
NM_024675.4(PALB2):c.784C>G (p.Leu262Val)
|
rs1967021118
|
|
|
NM_024675.4(PALB2):c.785T>G (p.Leu262Arg)
|
rs1060502732
|
|
|
NM_024675.4(PALB2):c.786del (p.Glu263fs)
|
rs730881870
|
|
|
NM_024675.4(PALB2):c.787G>T (p.Glu263Ter)
|
rs2142434483
|
|
|
NM_024675.4(PALB2):c.789A>T (p.Glu263Asp)
|
rs1060502743
|
|
|
NM_024675.4(PALB2):c.790C>A (p.His264Asn)
|
rs1967020660
|
|
|
NM_024675.4(PALB2):c.791A>G (p.His264Arg)
|
|
|
|
NM_024675.4(PALB2):c.792C>T (p.His264=)
|
rs1310569612
|
|
|
NM_024675.4(PALB2):c.793A>G (p.Ile265Val)
|
rs1555461620
|
|
|
NM_024675.4(PALB2):c.796C>A (p.Pro266Thr)
|
|
|
|
NM_024675.4(PALB2):c.796C>T (p.Pro266Ser)
|
rs1967020348
|
|
|
NM_024675.4(PALB2):c.797C>T (p.Pro266Leu)
|
rs1555461619
|
|
|
NM_024675.4(PALB2):c.799C>T (p.Pro267Ser)
|
rs2142434198
|
|
|
NM_024675.4(PALB2):c.7G>A (p.Glu3Lys)
|
rs878855123
|
|
|
NM_024675.4(PALB2):c.7G>C (p.Glu3Gln)
|
rs878855123
|
|
|
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter)
|
rs878855123
|
|
|
NM_024675.4(PALB2):c.800C>T (p.Pro267Leu)
|
rs1967020152
|
|
|
NM_024675.4(PALB2):c.801T>G (p.Pro267=)
|
|
|
|
NM_024675.4(PALB2):c.801_802dup (p.Lys268fs)
|
rs1555461618
|
|
|
NM_024675.4(PALB2):c.803A>C (p.Lys268Thr)
|
|
|
|
NM_024675.4(PALB2):c.803A>G (p.Lys268Arg)
|
rs1967019966
|
|
|
NM_024675.4(PALB2):c.804A>C (p.Lys268Asn)
|
rs1967019844
|
|
|
NM_024675.4(PALB2):c.804A>G (p.Lys268=)
|
rs1967019844
|
|
|
NM_024675.4(PALB2):c.805G>T (p.Gly269Cys)
|
rs1597098242
|
|
|
NM_024675.4(PALB2):c.806G>A (p.Gly269Asp)
|
rs1431508303
|
|
|
NM_024675.4(PALB2):c.806G>T (p.Gly269Val)
|
rs1431508303
|
|
|
NM_024675.4(PALB2):c.809G>A (p.Ser270Asn)
|
rs1597098223
|
|
|
NM_024675.4(PALB2):c.809_823del (p.Ser270_Thr274del)
|
rs2142433594
|
|
|
NM_024675.4(PALB2):c.80A>G (p.Glu27Gly)
|
rs2142460509
|
|
|
NM_024675.4(PALB2):c.810C>A (p.Ser270Arg)
|
rs1567222286
|
|
|
NM_024675.4(PALB2):c.811A>G (p.Ser271Gly)
|
rs1289027047
|
|
|
NM_024675.4(PALB2):c.812G>A (p.Ser271Asn)
|
rs1167051191
|
|
|
NM_024675.4(PALB2):c.813T>G (p.Ser271Arg)
|
rs786203246
|
|
|
NM_024675.4(PALB2):c.816_825dup (p.His276fs)
|
rs2142433539
|
|
|
NM_024675.4(PALB2):c.81A>G (p.Glu27=)
|
rs2142460493
|
|
|
NM_024675.4(PALB2):c.820A>C (p.Thr274Pro)
|
rs1567222260
|
|
|
NM_024675.4(PALB2):c.820dup (p.Thr274fs)
|
rs1555461611
|
|
|
NM_024675.4(PALB2):c.821C>G (p.Thr274Ser)
|
rs867994747
|
|
|
NM_024675.4(PALB2):c.821C>T (p.Thr274Ile)
|
rs867994747
|
|
|
NM_024675.4(PALB2):c.821del (p.Thr274fs)
|
|
|
|
NM_024675.4(PALB2):c.823A>T (p.Thr275Ser)
|
rs1555461608
|
|
|
NM_024675.4(PALB2):c.825T>G (p.Thr275=)
|
|
|
|
NM_024675.4(PALB2):c.825del (p.His276fs)
|
rs2142433522
|
|
|
NM_024675.4(PALB2):c.826C>T (p.His276Tyr)
|
rs876658815
|
|
|
NM_024675.4(PALB2):c.828del (p.His276fs)
|
|
|
|
NM_024675.4(PALB2):c.829G>T (p.Asp277Tyr)
|
rs778309339
|
|
|
NM_024675.4(PALB2):c.829_832del (p.His276_Asp277insTer)
|
rs1555461602
|
|
|
NM_024675.4(PALB2):c.82T>A (p.Tyr28Asn)
|
rs1060502762
|
|
|
NM_024675.4(PALB2):c.832C>G (p.Leu278Val)
|
rs515726128
|
|
|
NM_024675.4(PALB2):c.832C>T (p.Leu278=)
|
rs515726128
|
|
|
NM_024675.4(PALB2):c.832del (p.Asp277_Leu278insTer)
|
rs1597098138
|
|
|
NM_024675.4(PALB2):c.833T>C (p.Leu278Pro)
|
|
|
|
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His)
|
rs587778582
|
|
|
NM_024675.4(PALB2):c.833del (p.Leu278fs)
|
|
|
|
NM_024675.4(PALB2):c.833dup (p.Asn280fs)
|
|
|
|
NM_024675.4(PALB2):c.834A>G (p.Leu278=)
|
rs199919863
|
|
|
NM_024675.4(PALB2):c.836A>C (p.Lys279Thr)
|
rs1967016594
|
|
|
NM_024675.4(PALB2):c.838A>C (p.Asn280His)
|
rs1567222209
|
|
|
NM_024675.4(PALB2):c.838_839del (p.Asn280fs)
|
|
|
|
NM_024675.4(PALB2):c.839A>G (p.Asn280Ser)
|
rs1597098100
|
|
|
NM_024675.4(PALB2):c.839del (p.Asn280fs)
|
rs1555461597
|
|
|
NM_024675.4(PALB2):c.839dup (p.Asn280fs)
|
rs1555461597
|
|
|
NM_024675.4(PALB2):c.83A>G (p.Tyr28Cys)
|
rs515726129
|
|
|
NM_024675.4(PALB2):c.840C>T (p.Asn280=)
|
rs375258299
|
|
|
NM_024675.4(PALB2):c.841A>G (p.Ile281Val)
|
rs751882053
|
|
|
NM_024675.4(PALB2):c.841del (p.Ile281fs)
|
rs1555461595
|
|
|
NM_024675.4(PALB2):c.842T>G (p.Ile281Ser)
|
rs950480706
|
|
|
NM_024675.4(PALB2):c.843T>C (p.Ile281=)
|
rs786201408
|
|
|
NM_024675.4(PALB2):c.843_845del (p.Arg282del)
|
rs786203247
|
|
|
NM_024675.4(PALB2):c.844_847del (p.Arg282fs)
|
rs1555461586
|
|
|
NM_024675.4(PALB2):c.845G>A (p.Arg282Lys)
|
rs1555461590
|
|
|
NM_024675.4(PALB2):c.846A>T (p.Arg282Ser)
|
rs1555461587
|
|
|
NM_024675.4(PALB2):c.847T>C (p.Phe283Leu)
|
|
|
|
NM_024675.4(PALB2):c.849_850insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAACATTAGATTT (p.Thr284fs)
|
|
|
|
NM_024675.4(PALB2):c.849del (p.Phe283fs)
|
rs2142432863
|
|
|
NM_024675.4(PALB2):c.84C>A (p.Tyr28Ter)
|
rs761533286
|
|
|
NM_024675.4(PALB2):c.84C>G (p.Tyr28Ter)
|
rs761533286
|
|
|
NM_024675.4(PALB2):c.84_85del (p.Tyr28_Ser29delinsTer)
|
|
|
|
NM_024675.4(PALB2):c.850A>G (p.Thr284Ala)
|
rs1555461584
|
|
|
NM_024675.4(PALB2):c.850_866del (p.Thr284fs)
|
|
|
|
NM_024675.4(PALB2):c.851C>T (p.Thr284Ile)
|
rs1555461583
|
|
|
NM_024675.4(PALB2):c.853T>C (p.Ser285Pro)
|
rs1060502776
|
|
|
NM_024675.4(PALB2):c.854C>A (p.Ser285Ter)
|
|
|
|
NM_024675.4(PALB2):c.854C>T (p.Ser285Leu)
|
rs180177094
|
|
|
NM_024675.4(PALB2):c.854del (p.Ser285fs)
|
|
|
|
NM_024675.4(PALB2):c.855A>C (p.Ser285=)
|
|
|
|
NM_024675.4(PALB2):c.855A>G (p.Ser285=)
|
|
|
|
NM_024675.4(PALB2):c.857C>T (p.Pro286Leu)
|
rs1597098031
|
|
|
NM_024675.4(PALB2):c.858T>C (p.Pro286=)
|
rs1060504709
|
|
|
NM_024675.4(PALB2):c.859G>T (p.Val287Leu)
|
rs1967014349
|
|
|
NM_024675.4(PALB2):c.85A>G (p.Ser29Gly)
|
rs776110440
|
|
|
NM_024675.4(PALB2):c.860dup (p.Ser288fs)
|
rs864622301
|
|
|
NM_024675.4(PALB2):c.863G>A (p.Ser288Asn)
|
rs1967014090
|
|
|
NM_024675.4(PALB2):c.865T>A (p.Leu289Met)
|
rs1967014008
|
|
|
NM_024675.4(PALB2):c.866T>A (p.Leu289Ter)
|
rs1555461574
|
|
|
NM_024675.4(PALB2):c.866T>C (p.Leu289Ser)
|
rs1555461574
|
|
|
NM_024675.4(PALB2):c.866T>G (p.Leu289Trp)
|
rs1555461574
|
|
|
NM_024675.4(PALB2):c.868G>T (p.Glu290Ter)
|
rs1567222143
|
|
|
NM_024675.4(PALB2):c.869del (p.Glu290fs)
|
|
|
|
NM_024675.4(PALB2):c.86_108+12dup
|
rs2142459504
|
|
|
NM_024675.4(PALB2):c.871G>A (p.Ala291Thr)
|
rs878855124
|
|
|
NM_024675.4(PALB2):c.872C>T (p.Ala291Val)
|
rs1411140246
|
|
|
NM_024675.4(PALB2):c.873A>G (p.Ala291=)
|
rs1567222128
|
|
|
NM_024675.4(PALB2):c.874C>A (p.Gln292Lys)
|
rs1335897946
|
|
|
NM_024675.4(PALB2):c.874C>T (p.Gln292Ter)
|
|
|
|
NM_024675.4(PALB2):c.875A>G (p.Gln292Arg)
|
rs1328100544
|
|
|
NM_024675.4(PALB2):c.876A>C (p.Gln292His)
|
rs1408180894
|
|
|
NM_024675.4(PALB2):c.879C>G (p.Gly293=)
|
rs1461078801
|
|
|
NM_024675.4(PALB2):c.879del (p.Lys295_Met296insTer)
|
rs2142432244
|
|
|
NM_024675.4(PALB2):c.87C>G (p.Ser29Arg)
|
rs2142460349
|
|
|
NM_024675.4(PALB2):c.87C>T (p.Ser29=)
|
|
|
|
NM_024675.4(PALB2):c.87dup (p.Lys30fs)
|
|
|
|
NM_024675.4(PALB2):c.880A>G (p.Lys294Glu)
|
rs753676934
|
|
|
NM_024675.4(PALB2):c.880A>T (p.Lys294Ter)
|
rs753676934
|
|
|
NM_024675.4(PALB2):c.882A>G (p.Lys294=)
|
rs1415955458
|
|
|
NM_024675.4(PALB2):c.885A>G (p.Lys295=)
|
rs2142432107
|
|
|
NM_024675.4(PALB2):c.885_886del (p.Lys295fs)
|
|
|
|
NM_024675.4(PALB2):c.885_886insG (p.Met296fs)
|
rs1597097936
|
|
|
NM_024675.4(PALB2):c.886A>T (p.Met296Leu)
|
|
|
|
NM_024675.4(PALB2):c.886del (p.Lys295_Met296insTer)
|
rs587776408
|
|
|
NM_024675.4(PALB2):c.886dup (p.Met296fs)
|
rs587776408
|
|
|
NM_024675.4(PALB2):c.887T>G (p.Met296Arg)
|
rs1555461566
|
|
|
NM_024675.4(PALB2):c.887del (p.Met296fs)
|
rs2142432029
|
|
|
NM_024675.4(PALB2):c.88A>G (p.Lys30Glu)
|
rs1967110881
|
|
|
NM_024675.4(PALB2):c.890C>T (p.Thr297Ile)
|
rs1967012032
|
|
|
NM_024675.4(PALB2):c.892G>C (p.Val298Leu)
|
rs1060502765
|
|
|
NM_024675.4(PALB2):c.892_893del (p.Val298fs)
|
rs2142431841
|
|
|
NM_024675.4(PALB2):c.896C>T (p.Ser299Phe)
|
rs1967011427
|
|
|
NM_024675.4(PALB2):c.896_897del (p.Ser299fs)
|
rs1967011347
|
|
|
NM_024675.4(PALB2):c.898del (p.Thr300fs)
|
|
|
|
NM_024675.4(PALB2):c.899del (p.Thr300fs)
|
rs1555461558
|
|
|
NM_024675.4(PALB2):c.901G>C (p.Asp301His)
|
rs1967010825
|
|
|
NM_024675.4(PALB2):c.901_902del (p.Thr300_Asp301insTer)
|
rs2142431560
|
|
|
NM_024675.4(PALB2):c.901_907del (p.Asp301fs)
|
rs1555461551
|
|
|
NM_024675.4(PALB2):c.902A>T (p.Asp301Val)
|
rs759014440
|
|
|
NM_024675.4(PALB2):c.903T>C (p.Asp301=)
|
rs1057521432
|
|
|
NM_024675.4(PALB2):c.904A>T (p.Asn302Tyr)
|
rs2142431479
|
|
|
NM_024675.4(PALB2):c.905A>G (p.Asn302Ser)
|
|
|
|
NM_024675.4(PALB2):c.906CCT[1] (p.Leu304del)
|
rs587780222
|
|
|
NM_024675.4(PALB2):c.907C>G (p.Leu303Val)
|
rs878855125
|
|
|
NM_024675.4(PALB2):c.907C>T (p.Leu303Phe)
|
rs878855125
|
|
|
NM_024675.4(PALB2):c.908T>C (p.Leu303Pro)
|
rs774057025
|
|
|
NM_024675.4(PALB2):c.909_917delinsT (p.Leu303_Leu304insTer)
|
|
|
|
NM_024675.4(PALB2):c.90G>T (p.Lys30Asn)
|
rs515726130
|
|
|
NM_024675.4(PALB2):c.910del (p.Leu304_Val305insTer)
|
|
|
|
NM_024675.4(PALB2):c.911T>C (p.Leu304Pro)
|
|
|
|
NM_024675.4(PALB2):c.911T>G (p.Leu304Arg)
|
|
|
|
NM_024675.4(PALB2):c.913G>A (p.Val305Ile)
|
|
|
|
NM_024675.4(PALB2):c.915A>T (p.Val305=)
|
rs748881930
|
|
|
NM_024675.4(PALB2):c.916A>C (p.Asn306His)
|
|
|
|
NM_024675.4(PALB2):c.91A>G (p.Thr31Ala)
|
rs1967110664
|
|
|
NM_024675.4(PALB2):c.91A>T (p.Thr31Ser)
|
|
|
|
NM_024675.4(PALB2):c.920A>C (p.Lys307Thr)
|
rs2142430999
|
|
|
NM_024675.4(PALB2):c.921A>G (p.Lys307=)
|
rs1555461544
|
|
|
NM_024675.4(PALB2):c.923C>T (p.Ala308Val)
|
rs1967009067
|
|
|
NM_024675.4(PALB2):c.924T>C (p.Ala308=)
|
rs2142430881
|
|
|
NM_024675.4(PALB2):c.926T>C (p.Ile309Thr)
|
|
|
|
NM_024675.4(PALB2):c.926T>G (p.Ile309Arg)
|
rs201588519
|
|
|
NM_024675.4(PALB2):c.927A>C (p.Ile309=)
|
rs1326253995
|
|
|
NM_024675.4(PALB2):c.927A>G (p.Ile309Met)
|
|
|
|
NM_024675.4(PALB2):c.92C>T (p.Thr31Ile)
|
rs1567224182
|
|
|
NM_024675.4(PALB2):c.930T>C (p.Ser310=)
|
rs1967008319
|
|
|
NM_024675.4(PALB2):c.931A>G (p.Lys311Glu)
|
rs1060499831
|
|
|
NM_024675.4(PALB2):c.931A>T (p.Lys311Ter)
|
rs1060499831
|
|
|
NM_024675.4(PALB2):c.932A>C (p.Lys311Thr)
|
rs755129205
|
|
|
NM_024675.4(PALB2):c.932_933insC (p.Lys311fs)
|
rs1060502772
|
|
|
NM_024675.4(PALB2):c.934A>T (p.Ser312Cys)
|
|
|
|
NM_024675.4(PALB2):c.934dup (p.Ser312fs)
|
|
|
|
NM_024675.4(PALB2):c.936T>C (p.Ser312=)
|
rs1555461534
|
|
|
NM_024675.4(PALB2):c.938G>A (p.Gly313Asp)
|
rs1555461531
|
|
|
NM_024675.4(PALB2):c.938G>T (p.Gly313Val)
|
rs1555461531
|
|
|
NM_024675.4(PALB2):c.939C>T (p.Gly313=)
|
rs2142430444
|
|
|
NM_024675.4(PALB2):c.93A>C (p.Thr31=)
|
rs1597101837
|
|
|
NM_024675.4(PALB2):c.93A>G (p.Thr31=)
|
rs1597101837
|
|
|
NM_024675.4(PALB2):c.93_94dup (p.Leu32fs)
|
|
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
|
NM_024675.4(PALB2):c.942A>C (p.Gln314His)
|
rs1156931572
|
|
|
NM_024675.4(PALB2):c.944_950del (p.Leu315fs)
|
|
|
|
NM_024675.4(PALB2):c.945G>A (p.Leu315=)
|
rs1555461529
|
|
|
NM_024675.4(PALB2):c.945G>T (p.Leu315=)
|
rs1555461529
|
|
|
NM_024675.4(PALB2):c.945_954del (p.Pro316fs)
|
|
|
|
NM_024675.4(PALB2):c.947C>T (p.Pro316Leu)
|
rs876658867
|
|
|
NM_024675.4(PALB2):c.948C>T (p.Pro316=)
|
rs1555461528
|
|
|
NM_024675.4(PALB2):c.948del (p.Thr317fs)
|
rs730881871
|
|
|
NM_024675.4(PALB2):c.94C>A (p.Leu32Ile)
|
rs151316635
|
|
|
NM_024675.4(PALB2):c.94C>T (p.Leu32=)
|
rs151316635
|
|
|
NM_024675.4(PALB2):c.951A>T (p.Thr317=)
|
rs1967006687
|
|
|
NM_024675.4(PALB2):c.952del (p.Ser318fs)
|
|
|
|
NM_024675.4(PALB2):c.953_954del (p.Ser318fs)
|
rs1060502800
|
|
|
NM_024675.4(PALB2):c.955T>C (p.Ser319Pro)
|
rs1555461524
|
|
|
NM_024675.4(PALB2):c.956C>T (p.Ser319Phe)
|
rs200144401
|
|
|
NM_024675.4(PALB2):c.956_962del (p.Ser318_Ser319insTer)
|
rs587776409
|
|
|
NM_024675.4(PALB2):c.956del (p.Ser319fs)
|
|
|
|
NM_024675.4(PALB2):c.957T>C (p.Ser319=)
|
rs786203082
|
|
|
NM_024675.4(PALB2):c.958A>C (p.Asn320His)
|
|
|
|
NM_024675.4(PALB2):c.95T>C (p.Leu32Pro)
|
rs1967110180
|
|
|
NM_024675.4(PALB2):c.961T>G (p.Leu321Val)
|
rs1967005997
|
|
|
NM_024675.4(PALB2):c.962T>G (p.Leu321Ter)
|
|
|
|
NM_024675.4(PALB2):c.962del (p.Asn320_Leu321insTer)
|
|
|
|
NM_024675.4(PALB2):c.964G>A (p.Glu322Lys)
|
rs1597097656
|
|
|
NM_024675.4(PALB2):c.964G>T (p.Glu322Ter)
|
|
|
|
NM_024675.4(PALB2):c.964_975dup (p.Glu322_Ile325dup)
|
rs876660786
|
|
|
NM_024675.4(PALB2):c.966G>C (p.Glu322Asp)
|
rs1246010785
|
|
|
NM_024675.4(PALB2):c.968C>T (p.Ala323Val)
|
rs730881882
|
|
|
NM_024675.4(PALB2):c.974T>C (p.Ile325Thr)
|
|
|
|
NM_024675.4(PALB2):c.976dup (p.Ser326fs)
|
rs1555461517
|
|
|
NM_024675.4(PALB2):c.979T>C (p.Cys327Arg)
|
|
|
|
NM_024675.4(PALB2):c.97G>C (p.Ala33Pro)
|
rs747302288
|
|
|
NM_024675.4(PALB2):c.980G>A (p.Cys327Tyr)
|
rs786202550
|
|
|
NM_024675.4(PALB2):c.983C>A (p.Ser328Tyr)
|
rs1567221893
|
|
|
NM_024675.4(PALB2):c.983C>G (p.Ser328Cys)
|
|
|
|
NM_024675.4(PALB2):c.984_986delinsC (p.Leu329fs)
|
|
|
|
NM_024675.4(PALB2):c.985C>T (p.Leu329=)
|
rs863224792
|
|
|
NM_024675.4(PALB2):c.985_986del (p.Leu329fs)
|
rs1555461514
|
|
|
NM_024675.4(PALB2):c.986T>C (p.Leu329Pro)
|
rs2142429260
|
|
|
NM_024675.4(PALB2):c.986_987dup (p.Asn330Ter)
|
rs2142429230
|
|
|
NM_024675.4(PALB2):c.987A>G (p.Leu329=)
|
rs1258396517
|
|
|
NM_024675.4(PALB2):c.987A>T (p.Leu329=)
|
rs1258396517
|
|
|
NM_024675.4(PALB2):c.988A>G (p.Asn330Asp)
|
rs1597097599
|
|
|
NM_024675.4(PALB2):c.98C>A (p.Ala33Asp)
|
rs780769645
|
|
|
NM_024675.4(PALB2):c.98C>T (p.Ala33Val)
|
rs780769645
|
|
|
NM_024675.4(PALB2):c.990T>C (p.Asn330=)
|
rs2142429127
|
|
|
NM_024675.4(PALB2):c.991G>C (p.Glu331Gln)
|
rs878855126
|
|
|
NM_024675.4(PALB2):c.991G>T (p.Glu331Ter)
|
|
|
|
NM_024675.4(PALB2):c.994C>T (p.Leu332Phe)
|
rs1567221866
|
|
|
NM_024675.4(PALB2):c.995T>C (p.Leu332Pro)
|
rs377149139
|
|
|
NM_024675.4(PALB2):c.995_996del (p.Leu332fs)
|
rs1567221851
|
|
|
NM_024675.4(PALB2):c.997A>G (p.Thr333Ala)
|
rs587782498
|
|
|
NM_024675.4(PALB2):c.998C>A (p.Thr333Asn)
|
rs1567221840
|
|
|
NM_024675.4(PALB2):c.998C>T (p.Thr333Ile)
|
rs1567221840
|
|
|
NM_024675.4(PALB2):c.999C>G (p.Thr333=)
|
rs180177096
|
|
|
NM_024675.4(PALB2):c.999C>T (p.Thr333=)
|
rs180177096
|
|
|
NM_024675.4(PALB2):c.9G>A (p.Glu3=)
|
rs786202325
|
|
|
NM_024675.4(PALB2):c.9G>T (p.Glu3Asp)
|
rs786202325
|
|
|
NM_024675.4(PALB2):c.9_48+118del
|
|
|
|
NM_032043.2(BRIP1):c.(?_-1)_918+?dup
|
|
|
|
NM_032043.2(BRIP1):c.1474-7C>A
|
rs886041146
|
|
|
NM_032043.2(BRIP1):c.1474-?_1628+?del
|
|
|
|
NM_032043.2(BRIP1):c.196delinsCTC (p.Ser66fs)
|
rs1555618375
|
|
|
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs)
|
rs1555580957
|
|
|
NM_032043.2(BRIP1):c.2493-?_2575+?dup
|
|
|
|
NM_032043.2(BRIP1):c.3277delinsTTCAGAA (p.Leu1093delinsPheArgIle)
|
rs1555572724
|
|
|
NM_032043.2(BRIP1):c.3599delinsTT (p.His1200fs)
|
rs1555572516
|
|
|
NM_032043.2(BRIP1):c.505_506insAlu
|
|
|
|
NM_032043.2(BRIP1):c.630_637delCCCTGGCC
|
rs1603347058
|
|
|
NM_032043.2(BRIP1):c.919-?_1140+?del
|
|
|
|
NM_032043.3(BRIP1):c.*15C>G
|
rs1057523100
|
|
|
NM_032043.3(BRIP1):c.*6C>G
|
rs1567727060
|
|
|
NM_032043.3(BRIP1):c.-165A>G
|
rs1603369145
|
|
|
NM_032043.3(BRIP1):c.-31+498_187del
|
|
|
|
NM_032043.3(BRIP1):c.1000G>T (p.Ala334Ser)
|
rs535414791
|
|
|
NM_032043.3(BRIP1):c.1001C>G (p.Ala334Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1002C>T (p.Ala334=)
|
rs2077991101
|
|
|
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter)
|
rs1555607749
|
|
|
NM_032043.3(BRIP1):c.1005G>A (p.Trp335Ter)
|
rs786201808
|
|
|
NM_032043.3(BRIP1):c.1006G>A (p.Asp336Asn)
|
|
|
|
NM_032043.3(BRIP1):c.1007A>T (p.Asp336Val)
|
|
|
|
NM_032043.3(BRIP1):c.1007_1031del (p.Asp336fs)
|
|
|
|
NM_032043.3(BRIP1):c.1008T>C (p.Asp336=)
|
rs876660706
|
|
|
NM_032043.3(BRIP1):c.1009A>G (p.Ile337Val)
|
rs1365389773
|
|
|
NM_032043.3(BRIP1):c.1009A>T (p.Ile337Leu)
|
|
|
|
NM_032043.3(BRIP1):c.100A>G (p.Arg34Gly)
|
rs2145852980
|
|
|
NM_032043.3(BRIP1):c.100dup (p.Arg34fs)
|
|
|
|
NM_032043.3(BRIP1):c.1010T>C (p.Ile337Thr)
|
rs2077990704
|
|
|
NM_032043.3(BRIP1):c.1011A>C (p.Ile337=)
|
rs2145338037
|
|
|
NM_032043.3(BRIP1):c.1012G>A (p.Glu338Lys)
|
rs777653224
|
|
|
NM_032043.3(BRIP1):c.1012G>C (p.Glu338Gln)
|
|
|
|
NM_032043.3(BRIP1):c.1014A>G (p.Glu338=)
|
rs1490732516
|
|
|
NM_032043.3(BRIP1):c.1015G>A (p.Glu339Lys)
|
rs2145337853
|
|
|
NM_032043.3(BRIP1):c.1015G>T (p.Glu339Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1017A>G (p.Glu339=)
|
|
|
|
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs)
|
rs878855134
|
|
|
NM_032043.3(BRIP1):c.1018del (p.Val341fs)
|
|
|
|
NM_032043.3(BRIP1):c.1019T>C (p.Leu340Pro)
|
|
|
|
NM_032043.3(BRIP1):c.1021G>A (p.Val341Ile)
|
rs863224797
|
|
|
NM_032043.3(BRIP1):c.1022T>G (p.Val341Gly)
|
rs2145337483
|
|
|
NM_032043.3(BRIP1):c.1024A>C (p.Ser342Arg)
|
rs1603343284
|
|
|
NM_032043.3(BRIP1):c.1026C>T (p.Ser342=)
|
rs1603343281
|
|
|
NM_032043.3(BRIP1):c.1028T>C (p.Leu343Pro)
|
rs1414803437
|
|
|
NM_032043.3(BRIP1):c.102A>G (p.Arg34=)
|
|
|
|
NM_032043.3(BRIP1):c.1030G>A (p.Gly344Arg)
|
rs1555607734
|
|
|
NM_032043.3(BRIP1):c.1030_1049del (p.Gly344fs)
|
|
|
|
NM_032043.3(BRIP1):c.1031G>A (p.Gly344Glu)
|
rs751841684
|
|
|
NM_032043.3(BRIP1):c.1032G>A (p.Gly344=)
|
rs1468683560
|
|
|
NM_032043.3(BRIP1):c.1032GAA[1] (p.Lys346del)
|
rs2145336622
|
|
|
NM_032043.3(BRIP1):c.1034A>C (p.Lys345Thr)
|
rs2077989830
|
|
|
NM_032043.3(BRIP1):c.1034A>G (p.Lys345Arg)
|
rs2077989830
|
|
|
NM_032043.3(BRIP1):c.1035G>A (p.Lys345=)
|
rs2145336644
|
|
|
NM_032043.3(BRIP1):c.1036A>G (p.Lys346Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1038A>G (p.Lys346=)
|
rs1567831856
|
|
|
NM_032043.3(BRIP1):c.1039C>T (p.Leu347=)
|
rs2145336515
|
|
|
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)
|
rs373104267
|
|
|
NM_032043.3(BRIP1):c.1040T>C (p.Leu347Pro)
|
rs786201819
|
|
|
NM_032043.3(BRIP1):c.1041A>G (p.Leu347=)
|
rs1555607724
|
|
|
NM_032043.3(BRIP1):c.1045G>A (p.Ala349Thr)
|
rs149364097
|
|
|
NM_032043.3(BRIP1):c.1045G>T (p.Ala349Ser)
|
rs149364097
|
|
|
NM_032043.3(BRIP1):c.1046C>T (p.Ala349Val)
|
rs1184306036
|
|
|
NM_032043.3(BRIP1):c.1047C>A (p.Ala349=)
|
rs763189201
|
|
|
NM_032043.3(BRIP1):c.1048T>C (p.Cys350Arg)
|
rs876658173
|
|
|
NM_032043.3(BRIP1):c.1048T>G (p.Cys350Gly)
|
rs876658173
|
|
|
NM_032043.3(BRIP1):c.1048del (p.Cys350fs)
|
|
|
|
NM_032043.3(BRIP1):c.1049G>A (p.Cys350Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.1050T>C (p.Cys350=)
|
rs1555607717
|
|
|
NM_032043.3(BRIP1):c.1052_1055dup (p.Tyr353fs)
|
rs1603343235
|
|
|
NM_032043.3(BRIP1):c.1056T>C (p.Tyr352=)
|
|
|
|
NM_032043.3(BRIP1):c.1058A>C (p.Tyr353Ser)
|
rs2077989056
|
|
|
NM_032043.3(BRIP1):c.1058A>G (p.Tyr353Cys)
|
|
|
|
NM_032043.3(BRIP1):c.1058dup (p.Tyr353Ter)
|
rs2145335621
|
|
|
NM_032043.3(BRIP1):c.105A>G (p.Gly35=)
|
rs2145852819
|
|
|
NM_032043.3(BRIP1):c.1060A>G (p.Thr354Ala)
|
rs2145335496
|
|
|
NM_032043.3(BRIP1):c.1065C>T (p.Ala355=)
|
rs1222801209
|
|
|
NM_032043.3(BRIP1):c.1066C>G (p.Arg356Gly)
|
rs730881633
|
|
|
NM_032043.3(BRIP1):c.1067G>A (p.Arg356Gln)
|
rs1289648562
|
|
|
NM_032043.3(BRIP1):c.1069G>A (p.Glu357Lys)
|
rs769081927
|
|
|
NM_032043.3(BRIP1):c.1069G>T (p.Glu357Ter)
|
rs769081927
|
|
|
NM_032043.3(BRIP1):c.106_107insG (p.Leu36fs)
|
|
|
|
NM_032043.3(BRIP1):c.1072C>A (p.Leu358Ile)
|
rs775191379
|
|
|
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs)
|
rs1567831649
|
|
|
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs)
|
rs2145334953
|
|
|
NM_032043.3(BRIP1):c.1076T>C (p.Ile359Thr)
|
rs2145334735
|
|
|
NM_032043.3(BRIP1):c.1078C>T (p.Gln360Ter)
|
rs2145334576
|
|
|
NM_032043.3(BRIP1):c.107T>A (p.Leu36Ter)
|
|
|
|
NM_032043.3(BRIP1):c.107T>C (p.Leu36Ser)
|
rs1060501767
|
|
|
NM_032043.3(BRIP1):c.107_108del (p.Gly35_Leu36insTer)
|
|
|
|
NM_032043.3(BRIP1):c.1080A>G (p.Gln360=)
|
|
|
|
NM_032043.3(BRIP1):c.1081G>A (p.Asp361Asn)
|
rs1060501737
|
|
|
NM_032043.3(BRIP1):c.1081G>T (p.Asp361Tyr)
|
rs1060501737
|
|
|
NM_032043.3(BRIP1):c.1083T>C (p.Asp361=)
|
rs745432312
|
|
|
NM_032043.3(BRIP1):c.1086T>C (p.Ala362=)
|
|
|
|
NM_032043.3(BRIP1):c.108A>C (p.Leu36Phe)
|
rs774586397
|
|
|
NM_032043.3(BRIP1):c.108A>G (p.Leu36=)
|
rs774586397
|
|
|
NM_032043.3(BRIP1):c.1090A>G (p.Ile364Val)
|
rs770306753
|
|
|
NM_032043.3(BRIP1):c.1091T>C (p.Ile364Thr)
|
rs2077987772
|
|
|
NM_032043.3(BRIP1):c.1092C>T (p.Ile364=)
|
rs1555607674
|
|
|
NM_032043.3(BRIP1):c.1093A>C (p.Ile365Leu)
|
rs749251680
|
|
|
NM_032043.3(BRIP1):c.1093A>G (p.Ile365Val)
|
rs749251680
|
|
|
NM_032043.3(BRIP1):c.1098T>G (p.Phe366Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1099T>C (p.Cys367Arg)
|
rs1567831592
|
|
|
NM_032043.3(BRIP1):c.1101T>C (p.Cys367=)
|
|
|
|
NM_032043.3(BRIP1):c.1101del (p.Tyr369fs)
|
|
|
|
NM_032043.3(BRIP1):c.1102C>T (p.Pro368Ser)
|
rs1555607669
|
|
|
NM_032043.3(BRIP1):c.1103C>T (p.Pro368Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1104C>T (p.Pro368=)
|
rs1555607667
|
|
|
NM_032043.3(BRIP1):c.1104del (p.Tyr369fs)
|
|
|
|
NM_032043.3(BRIP1):c.1106A>C (p.Tyr369Ser)
|
rs786202218
|
|
|
NM_032043.3(BRIP1):c.1106A>G (p.Tyr369Cys)
|
rs786202218
|
|
|
NM_032043.3(BRIP1):c.1107C>A (p.Tyr369Ter)
|
rs1489355776
|
|
|
NM_032043.3(BRIP1):c.1107C>G (p.Tyr369Ter)
|
rs1489355776
|
|
|
NM_032043.3(BRIP1):c.1107C>T (p.Tyr369=)
|
rs1489355776
|
|
|
NM_032043.3(BRIP1):c.1109_1110dup (p.Tyr371fs)
|
rs1567831477
|
|
|
NM_032043.3(BRIP1):c.110A>G (p.Asn37Ser)
|
rs876659105
|
|
|
NM_032043.3(BRIP1):c.1110C>T (p.Asn370=)
|
|
|
|
NM_032043.3(BRIP1):c.1111del (p.Tyr371fs)
|
|
|
|
NM_032043.3(BRIP1):c.1112A>G (p.Tyr371Cys)
|
rs1060501768
|
|
|
NM_032043.3(BRIP1):c.1112A>T (p.Tyr371Phe)
|
|
|
|
NM_032043.3(BRIP1):c.1113T>C (p.Tyr371=)
|
rs2145332634
|
|
|
NM_032043.3(BRIP1):c.1114C>A (p.Leu372Ile)
|
rs786202637
|
|
|
NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs)
|
rs587783377
|
|
|
NM_032043.3(BRIP1):c.1116T>A (p.Leu372=)
|
|
|
|
NM_032043.3(BRIP1):c.1116T>C (p.Leu372=)
|
rs2077986700
|
|
|
NM_032043.3(BRIP1):c.1119A>G (p.Leu373=)
|
|
|
|
NM_032043.3(BRIP1):c.111C>T (p.Asn37=)
|
rs2145852604
|
|
|
NM_032043.3(BRIP1):c.1121A>G (p.Asp374Gly)
|
rs1603343117
|
|
|
NM_032043.3(BRIP1):c.1122T>A (p.Asp374Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1123G>A (p.Ala375Thr)
|
rs878855135
|
|
|
NM_032043.3(BRIP1):c.1124C>T (p.Ala375Val)
|
rs786202192
|
|
|
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter)
|
rs1028347439
|
|
|
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs)
|
rs587780224
|
|
|
NM_032043.3(BRIP1):c.1128A>G (p.Gln376=)
|
|
|
|
NM_032043.3(BRIP1):c.1129A>G (p.Ile377Val)
|
rs876659688
|
|
|
NM_032043.3(BRIP1):c.112A>G (p.Ser38Gly)
|
rs2145852551
|
|
|
NM_032043.3(BRIP1):c.112dup (p.Ser38fs)
|
rs2078951497
|
|
|
NM_032043.3(BRIP1):c.1131A>G (p.Ile377Met)
|
rs927733243
|
|
|
NM_032043.3(BRIP1):c.1131A>T (p.Ile377=)
|
rs927733243
|
|
|
NM_032043.3(BRIP1):c.1132del (p.Arg378fs)
|
|
|
|
NM_032043.3(BRIP1):c.1133G>A (p.Arg378Lys)
|
rs1555607637
|
|
|
NM_032043.3(BRIP1):c.1136A>G (p.Glu379Gly)
|
rs1555607635
|
|
|
NM_032043.3(BRIP1):c.1138A>G (p.Ser380Gly)
|
rs1555607633
|
|
|
NM_032043.3(BRIP1):c.1138del (p.Ser380fs)
|
rs2077985927
|
|
|
NM_032043.3(BRIP1):c.1139G>A (p.Ser380Asn)
|
rs569696977
|
|
|
NM_032043.3(BRIP1):c.1139G>T (p.Ser380Ile)
|
rs569696977
|
|
|
NM_032043.3(BRIP1):c.113G>A (p.Ser38Asn)
|
rs1555618429
|
|
|
NM_032043.3(BRIP1):c.1140+10T>A
|
|
|
|
NM_032043.3(BRIP1):c.1140+10T>C
|
rs1060504332
|
|
|
NM_032043.3(BRIP1):c.1140+10T>G
|
rs1060504332
|
|
|
NM_032043.3(BRIP1):c.1140+11G>T
|
|
|
|
NM_032043.3(BRIP1):c.1140+13G>A
|
|
|
|
NM_032043.3(BRIP1):c.1140+13G>C
|
|
|
|
NM_032043.3(BRIP1):c.1140+1G>A
|
rs1555607628
|
|
|
NM_032043.3(BRIP1):c.1140+3G>A
|
rs1322162359
|
|
|
NM_032043.3(BRIP1):c.1140+3G>T
|
rs1322162359
|
|
|
NM_032043.3(BRIP1):c.1140+4A>T
|
rs2077985597
|
|
|
NM_032043.3(BRIP1):c.1140+5G>C
|
|
|
|
NM_032043.3(BRIP1):c.1140+7A>G
|
rs1299846526
|
|
|
NM_032043.3(BRIP1):c.1140+7AT[3]
|
|
|
|
NM_032043.3(BRIP1):c.1140+8T>C
|
|
|
|
NM_032043.3(BRIP1):c.1140+9A>C
|
|
|
|
NM_032043.3(BRIP1):c.1140+9A>G
|
rs2145330850
|
|
|
NM_032043.3(BRIP1):c.1140dup (p.Met381fs)
|
|
|
|
NM_032043.3(BRIP1):c.1141-10T>C
|
|
|
|
NM_032043.3(BRIP1):c.1141-11T>C
|
|
|
|
NM_032043.3(BRIP1):c.1141-12T>C
|
|
|
|
NM_032043.3(BRIP1):c.1141-14C>A
|
rs2077954619
|
|
|
NM_032043.3(BRIP1):c.1141-14C>T
|
|
|
|
NM_032043.3(BRIP1):c.1141-15T>C
|
rs2145311075
|
|
|
NM_032043.3(BRIP1):c.1141-19A>C
|
|
|
|
NM_032043.3(BRIP1):c.1141-19A>T
|
|
|
|
NM_032043.3(BRIP1):c.1141-2A>C
|
|
|
|
NM_032043.3(BRIP1):c.1141-2A>G
|
|
|
|
NM_032043.3(BRIP1):c.1141-2A>T
|
rs769583916
|
|
|
NM_032043.3(BRIP1):c.1141-3T>C
|
rs773264592
|
|
|
NM_032043.3(BRIP1):c.1141-4A>T
|
rs1226658018
|
|
|
NM_032043.3(BRIP1):c.1141-5T>A
|
rs1060501760
|
|
|
NM_032043.3(BRIP1):c.1141-6T>A
|
|
|
|
NM_032043.3(BRIP1):c.1141-6T>C
|
rs876661277
|
|
|
NM_032043.3(BRIP1):c.1141-7C>G
|
rs1603342384
|
|
|
NM_032043.3(BRIP1):c.1141-7C>T
|
|
|
|
NM_032043.3(BRIP1):c.1141-7_1141-3del
|
rs1060501744
|
|
|
NM_032043.3(BRIP1):c.1141-8T>C
|
|
|
|
NM_032043.3(BRIP1):c.1141-9A>G
|
rs1555607258
|
|
|
NM_032043.3(BRIP1):c.1141-9A>T
|
rs1555607258
|
|
|
NM_032043.3(BRIP1):c.1141del (p.Met381fs)
|
|
|
|
NM_032043.3(BRIP1):c.1142T>A (p.Met381Lys)
|
rs1060501741
|
|
|
NM_032043.3(BRIP1):c.1142T>C (p.Met381Thr)
|
rs1060501741
|
|
|
NM_032043.3(BRIP1):c.1142dup (p.Met381fs)
|
|
|
|
NM_032043.3(BRIP1):c.1144G>A (p.Asp382Asn)
|
rs1452168198
|
|
|
NM_032043.3(BRIP1):c.1144G>T (p.Asp382Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.1147T>G (p.Leu383Val)
|
rs1603342360
|
|
|
NM_032043.3(BRIP1):c.114C>A (p.Ser38Arg)
|
rs2078951392
|
|
|
NM_032043.3(BRIP1):c.114C>T (p.Ser38=)
|
rs2078951392
|
|
|
NM_032043.3(BRIP1):c.1150A>T (p.Asn384Tyr)
|
rs1603342354
|
|
|
NM_032043.3(BRIP1):c.1151A>G (p.Asn384Ser)
|
rs1060501750
|
|
|
NM_032043.3(BRIP1):c.1153C>T (p.Leu385=)
|
|
|
|
NM_032043.3(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer)
|
rs1603342339
|
|
|
NM_032043.3(BRIP1):c.1156A>G (p.Lys386Glu)
|
rs730881635
|
|
|
NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter)
|
rs730881635
|
|
|
NM_032043.3(BRIP1):c.1158A>G (p.Lys386=)
|
rs1567829719
|
|
|
NM_032043.3(BRIP1):c.1158del (p.Glu387fs)
|
rs2145309797
|
|
|
NM_032043.3(BRIP1):c.1158dup (p.Glu387fs)
|
|
|
|
NM_032043.3(BRIP1):c.1159G>A (p.Glu387Lys)
|
rs1555607230
|
|
|
NM_032043.3(BRIP1):c.1159G>T (p.Glu387Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1161A>G (p.Glu387=)
|
rs2145309623
|
|
|
NM_032043.3(BRIP1):c.1161_1163del (p.Gln388del)
|
rs2145309517
|
|
|
NM_032043.3(BRIP1):c.1162C>T (p.Gln388Ter)
|
rs1304655615
|
|
|
NM_032043.3(BRIP1):c.1164G>A (p.Gln388=)
|
rs1603342334
|
|
|
NM_032043.3(BRIP1):c.1164G>T (p.Gln388His)
|
rs1603342334
|
|
|
NM_032043.3(BRIP1):c.1165G>A (p.Val389Ile)
|
rs587780825
|
|
|
NM_032043.3(BRIP1):c.1165G>C (p.Val389Leu)
|
rs587780825
|
|
|
NM_032043.3(BRIP1):c.1165G>T (p.Val389Phe)
|
rs587780825
|
|
|
NM_032043.3(BRIP1):c.1166T>C (p.Val389Ala)
|
rs2145309289
|
|
|
NM_032043.3(BRIP1):c.1166T>G (p.Val389Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1167T>C (p.Val389=)
|
|
|
|
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
|
|
|
|
NM_032043.3(BRIP1):c.1168G>A (p.Val390Ile)
|
rs781168634
|
|
|
NM_032043.3(BRIP1):c.1168G>T (p.Val390Phe)
|
rs781168634
|
|
|
NM_032043.3(BRIP1):c.1170C>T (p.Val390=)
|
rs754755989
|
|
|
NM_032043.3(BRIP1):c.1173T>G (p.Ile391Met)
|
rs1427603031
|
|
|
NM_032043.3(BRIP1):c.1177G>C (p.Asp393His)
|
rs1555607200
|
|
|
NM_032043.3(BRIP1):c.1180G>C (p.Glu394Gln)
|
rs2077952602
|
|
|
NM_032043.3(BRIP1):c.1182A>G (p.Glu394=)
|
rs1555607195
|
|
|
NM_032043.3(BRIP1):c.1182dup (p.Ala395fs)
|
|
|
|
NM_032043.3(BRIP1):c.1183G>A (p.Ala395Thr)
|
rs2077952484
|
|
|
NM_032043.3(BRIP1):c.1184C>T (p.Ala395Val)
|
rs778992385
|
|
|
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp)
|
rs1603342316
|
|
|
NM_032043.3(BRIP1):c.1188T>C (p.His396=)
|
rs1555607189
|
|
|
NM_032043.3(BRIP1):c.1189A>C (p.Asn397His)
|
rs587782039
|
|
|
NM_032043.3(BRIP1):c.118C>G (p.Gln40Glu)
|
|
|
|
NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1190A>T (p.Asn397Ile)
|
|
|
|
NM_032043.3(BRIP1):c.1191C>T (p.Asn397=)
|
rs1555607182
|
|
|
NM_032043.3(BRIP1):c.1191_1197dup (p.Asp400fs)
|
rs2145307730
|
|
|
NM_032043.3(BRIP1):c.1193T>G (p.Ile398Ser)
|
rs2145307952
|
|
|
NM_032043.3(BRIP1):c.1195G>C (p.Glu399Gln)
|
rs587782816
|
|
|
NM_032043.3(BRIP1):c.1196_1197del (p.Glu399fs)
|
rs2077951770
|
|
|
NM_032043.3(BRIP1):c.1197G>A (p.Glu399=)
|
|
|
|
NM_032043.3(BRIP1):c.1197G>C (p.Glu399Asp)
|
rs1567829526
|
|
|
NM_032043.3(BRIP1):c.119A>C (p.Gln40Pro)
|
rs2078951315
|
|
|
NM_032043.3(BRIP1):c.11T>C (p.Met4Thr)
|
rs2078973570
|
|
|
NM_032043.3(BRIP1):c.1200C>T (p.Asp400=)
|
rs1555607173
|
|
|
NM_032043.3(BRIP1):c.1201T>C (p.Cys401Arg)
|
rs756636362
|
|
|
NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs)
|
rs730881647
|
|
|
NM_032043.3(BRIP1):c.1201del (p.Cys401fs)
|
rs2145307439
|
|
|
NM_032043.3(BRIP1):c.1203_1204del (p.Ala402fs)
|
|
|
|
NM_032043.3(BRIP1):c.1205C>T (p.Ala402Val)
|
rs876659282
|
|
|
NM_032043.3(BRIP1):c.1206T>C (p.Ala402=)
|
rs1203573533
|
|
|
NM_032043.3(BRIP1):c.1206T>G (p.Ala402=)
|
rs1203573533
|
|
|
NM_032043.3(BRIP1):c.1207C>A (p.Arg403=)
|
rs369631413
|
|
|
NM_032043.3(BRIP1):c.1207C>G (p.Arg403Gly)
|
rs369631413
|
|
|
NM_032043.3(BRIP1):c.1209G>A (p.Arg403=)
|
rs2077951084
|
|
|
NM_032043.3(BRIP1):c.1212A>G (p.Glu404=)
|
rs2145306711
|
|
|
NM_032043.3(BRIP1):c.1219A>G (p.Ser407Gly)
|
rs1555607156
|
|
|
NM_032043.3(BRIP1):c.121C>T (p.His41Tyr)
|
rs770930270
|
|
|
NM_032043.3(BRIP1):c.1221T>G (p.Ser407Arg)
|
rs2077950726
|
|
|
NM_032043.3(BRIP1):c.1222dup (p.Tyr408fs)
|
rs1603342258
|
|
|
NM_032043.3(BRIP1):c.1224C>T (p.Tyr408=)
|
|
|
|
NM_032043.3(BRIP1):c.1225A>G (p.Ser409Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1226G>A (p.Ser409Asn)
|
rs587782247
|
|
|
NM_032043.3(BRIP1):c.1226G>C (p.Ser409Thr)
|
rs587782247
|
|
|
NM_032043.3(BRIP1):c.1227T>C (p.Ser409=)
|
rs1555607150
|
|
|
NM_032043.3(BRIP1):c.1228G>A (p.Val410Ile)
|
rs2145305888
|
|
|
NM_032043.3(BRIP1):c.1228G>C (p.Val410Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1228del (p.Ser409_Val410insTer)
|
|
|
|
NM_032043.3(BRIP1):c.1229dup (p.Thr411fs)
|
|
|
|
NM_032043.3(BRIP1):c.1230A>C (p.Val410=)
|
rs2145305804
|
|
|
NM_032043.3(BRIP1):c.1230A>G (p.Val410=)
|
|
|
|
NM_032043.3(BRIP1):c.1233A>G (p.Thr411=)
|
|
|
|
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs)
|
rs1064795649
|
|
|
NM_032043.3(BRIP1):c.1236A>G (p.Glu412=)
|
|
|
|
NM_032043.3(BRIP1):c.1236del (p.Val413fs)
|
rs863224525
|
|
|
NM_032043.3(BRIP1):c.1237G>C (p.Val413Leu)
|
rs2145305445
|
|
|
NM_032043.3(BRIP1):c.1238T>C (p.Val413Ala)
|
rs45576134
|
|
|
NM_032043.3(BRIP1):c.1239T>C (p.Val413=)
|
|
|
|
NM_032043.3(BRIP1):c.123T>C (p.His41=)
|
|
|
|
NM_032043.3(BRIP1):c.1240_1244dup (p.Arg416fs)
|
rs2077949826
|
|
|
NM_032043.3(BRIP1):c.1242G>A (p.Gln414=)
|
rs1257200897
|
|
|
NM_032043.3(BRIP1):c.1242G>C (p.Gln414His)
|
rs1257200897
|
|
|
NM_032043.3(BRIP1):c.1247G>T (p.Arg416Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1248G>A (p.Arg416=)
|
|
|
|
NM_032043.3(BRIP1):c.1248G>T (p.Arg416=)
|
|
|
|
NM_032043.3(BRIP1):c.124T>C (p.Cys42Arg)
|
rs1567877037
|
|
|
NM_032043.3(BRIP1):c.124T>G (p.Cys42Gly)
|
rs1567877037
|
|
|
NM_032043.3(BRIP1):c.1250T>A (p.Phe417Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.1251T>A (p.Phe417Leu)
|
rs2077949494
|
|
|
NM_032043.3(BRIP1):c.1251dup (p.Ala418fs)
|
|
|
|
NM_032043.3(BRIP1):c.1252G>A (p.Ala418Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1252G>T (p.Ala418Ser)
|
rs1567829310
|
|
|
NM_032043.3(BRIP1):c.1255C>G (p.Arg419Gly)
|
rs150624408
|
|
|
NM_032043.3(BRIP1):c.1256G>C (p.Arg419Pro)
|
|
|
|
NM_032043.3(BRIP1):c.1256_1278dup (p.Asn427delinsGlyMetAsnTer)
|
rs2077948208
|
|
|
NM_032043.3(BRIP1):c.1257G>T (p.Arg419=)
|
|
|
|
NM_032043.3(BRIP1):c.1258G>A (p.Asp420Asn)
|
rs2077949084
|
|
|
NM_032043.3(BRIP1):c.125G>T (p.Cys42Phe)
|
rs1555618423
|
|
|
NM_032043.3(BRIP1):c.1260T>C (p.Asp420=)
|
|
|
|
NM_032043.3(BRIP1):c.1261G>A (p.Glu421Lys)
|
rs2077949016
|
|
|
NM_032043.3(BRIP1):c.1261del (p.Glu421fs)
|
|
|
|
NM_032043.3(BRIP1):c.1262A>T (p.Glu421Val)
|
rs2077948964
|
|
|
NM_032043.3(BRIP1):c.1263A>G (p.Glu421=)
|
rs864622423
|
|
|
NM_032043.3(BRIP1):c.1264C>T (p.Leu422=)
|
rs768633507
|
|
|
NM_032043.3(BRIP1):c.1266A>C (p.Leu422=)
|
rs1484320639
|
|
|
NM_032043.3(BRIP1):c.1266A>T (p.Leu422=)
|
rs1484320639
|
|
|
NM_032043.3(BRIP1):c.1267G>C (p.Asp423His)
|
|
|
|
NM_032043.3(BRIP1):c.1269T>C (p.Asp423=)
|
rs954885174
|
|
|
NM_032043.3(BRIP1):c.1270A>C (p.Ser424Arg)
|
rs1028779004
|
|
|
NM_032043.3(BRIP1):c.1270A>G (p.Ser424Gly)
|
rs1028779004
|
|
|
NM_032043.3(BRIP1):c.1270_1271del (p.Ser424fs)
|
rs2145303552
|
|
|
NM_032043.3(BRIP1):c.1271G>A (p.Ser424Asn)
|
rs1354610577
|
|
|
NM_032043.3(BRIP1):c.1272T>C (p.Ser424=)
|
|
|
|
NM_032043.3(BRIP1):c.1273A>G (p.Met425Val)
|
rs1567829230
|
|
|
NM_032043.3(BRIP1):c.1274T>C (p.Met425Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1275G>A (p.Met425Ile)
|
rs1555607086
|
|
|
NM_032043.3(BRIP1):c.1278C>T (p.Val426=)
|
|
|
|
NM_032043.3(BRIP1):c.127T>C (p.Leu43=)
|
rs1603367726
|
|
|
NM_032043.3(BRIP1):c.1280A>G (p.Asn427Ser)
|
rs1466605276
|
|
|
NM_032043.3(BRIP1):c.1283A>C (p.Asn428Thr)
|
rs779237423
|
|
|
NM_032043.3(BRIP1):c.1285A>C (p.Asn429His)
|
|
|
|
NM_032043.3(BRIP1):c.1285A>G (p.Asn429Asp)
|
rs1555607082
|
|
|
NM_032043.3(BRIP1):c.1287T>C (p.Asn429=)
|
rs863224431
|
|
|
NM_032043.3(BRIP1):c.1287_1291del (p.Asn429fs)
|
|
|
|
NM_032043.3(BRIP1):c.1288A>G (p.Ile430Val)
|
rs1567829158
|
|
|
NM_032043.3(BRIP1):c.1288A>T (p.Ile430Leu)
|
rs1567829158
|
|
|
NM_032043.3(BRIP1):c.1289T>A (p.Ile430Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1289T>C (p.Ile430Thr)
|
rs1555607077
|
|
|
NM_032043.3(BRIP1):c.1289_1290dup (p.Arg431Ter)
|
rs2145302423
|
|
|
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs)
|
rs1064794202
|
|
|
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
|
|
|
|
NM_032043.3(BRIP1):c.1291A>T (p.Arg431Trp)
|
|
|
|
NM_032043.3(BRIP1):c.1291del (p.Arg431fs)
|
|
|
|
NM_032043.3(BRIP1):c.1292G>A (p.Arg431Lys)
|
rs1328630889
|
|
|
NM_032043.3(BRIP1):c.1293G>A (p.Arg431=)
|
rs2077947527
|
|
|
NM_032043.3(BRIP1):c.1293del (p.Lys432fs)
|
|
|
|
NM_032043.3(BRIP1):c.1294A>T (p.Lys432Ter)
|
rs1555607070
|
|
|
NM_032043.3(BRIP1):c.1296G>A (p.Lys432=)
|
rs757400610
|
|
|
NM_032043.3(BRIP1):c.1299A>G (p.Lys433=)
|
rs2145301810
|
|
|
NM_032043.3(BRIP1):c.1299_1302del (p.Lys433fs)
|
rs2077947183
|
|
|
NM_032043.3(BRIP1):c.129G>T (p.Leu43Phe)
|
rs2145852056
|
|
|
NM_032043.3(BRIP1):c.12G>A (p.Met4Ile)
|
rs1386396228
|
|
|
NM_032043.3(BRIP1):c.1301A>C (p.Asp434Ala)
|
rs1567829117
|
|
|
NM_032043.3(BRIP1):c.1301A>G (p.Asp434Gly)
|
rs1567829117
|
|
|
NM_032043.3(BRIP1):c.1301A>T (p.Asp434Val)
|
rs1567829117
|
|
|
NM_032043.3(BRIP1):c.1302T>C (p.Asp434=)
|
|
|
|
NM_032043.3(BRIP1):c.1303C>T (p.His435Tyr)
|
rs1060501758
|
|
|
NM_032043.3(BRIP1):c.1305T>C (p.His435=)
|
rs1352266926
|
|
|
NM_032043.3(BRIP1):c.1305T>G (p.His435Gln)
|
rs1352266926
|
|
|
NM_032043.3(BRIP1):c.1307A>T (p.Glu436Val)
|
|
|
|
NM_032043.3(BRIP1):c.1308A>G (p.Glu436=)
|
rs2145301245
|
|
|
NM_032043.3(BRIP1):c.1309C>G (p.Pro437Ala)
|
rs878855137
|
|
|
NM_032043.3(BRIP1):c.130T>C (p.Leu44=)
|
rs758270108
|
|
|
NM_032043.3(BRIP1):c.1311C>T (p.Pro437=)
|
rs1060504327
|
|
|
NM_032043.3(BRIP1):c.1312C>T (p.Leu438=)
|
|
|
|
NM_032043.3(BRIP1):c.1312del (p.Leu438fs)
|
rs1064795413
|
|
|
NM_032043.3(BRIP1):c.1313T>C (p.Leu438Pro)
|
rs1555607056
|
|
|
NM_032043.3(BRIP1):c.1315C>A (p.Arg439=)
|
rs587780226
|
|
|
NM_032043.3(BRIP1):c.1318G>T (p.Ala440Ser)
|
rs2145300568
|
|
|
NM_032043.3(BRIP1):c.1320T>C (p.Ala440=)
|
|
|
|
NM_032043.3(BRIP1):c.1322T>G (p.Val441Gly)
|
rs1458068665
|
|
|
NM_032043.3(BRIP1):c.1323G>A (p.Val441=)
|
|
|
|
NM_032043.3(BRIP1):c.1324T>C (p.Cys442Arg)
|
rs1603342146
|
|
|
NM_032043.3(BRIP1):c.1324T>G (p.Cys442Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1325G>C (p.Cys442Ser)
|
rs1555607040
|
|
|
NM_032043.3(BRIP1):c.1326C>A (p.Cys442Ter)
|
rs2145300052
|
|
|
NM_032043.3(BRIP1):c.1327T>C (p.Cys443Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1328G>A (p.Cys443Tyr)
|
rs1555607035
|
|
|
NM_032043.3(BRIP1):c.1329T>C (p.Cys443=)
|
rs2145299845
|
|
|
NM_032043.3(BRIP1):c.132_139delinsTTTCCACTT (p.Leu44fs)
|
|
|
|
NM_032043.3(BRIP1):c.1330A>G (p.Ser444Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1331G>C (p.Ser444Thr)
|
rs1603342140
|
|
|
NM_032043.3(BRIP1):c.1332C>A (p.Ser444Arg)
|
rs200581792
|
|
|
NM_032043.3(BRIP1):c.1332C>G (p.Ser444Arg)
|
rs200581792
|
|
|
NM_032043.3(BRIP1):c.1335C>T (p.Leu445=)
|
|
|
|
NM_032043.3(BRIP1):c.1336A>C (p.Ile446Leu)
|
rs786203496
|
|
|
NM_032043.3(BRIP1):c.1336A>G (p.Ile446Val)
|
rs786203496
|
|
|
NM_032043.3(BRIP1):c.1336A>T (p.Ile446Phe)
|
|
|
|
NM_032043.3(BRIP1):c.1337T>C (p.Ile446Thr)
|
rs1555607024
|
|
|
NM_032043.3(BRIP1):c.1339A>C (p.Asn447His)
|
rs2077945752
|
|
|
NM_032043.3(BRIP1):c.133G>A (p.Glu45Lys)
|
rs587781292
|
|
|
NM_032043.3(BRIP1):c.133G>C (p.Glu45Gln)
|
rs587781292
|
|
|
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)
|
rs587781292
|
|
|
NM_032043.3(BRIP1):c.1340+10T>G
|
|
|
|
NM_032043.3(BRIP1):c.1340+11T>C
|
|
|
|
NM_032043.3(BRIP1):c.1340+13G>A
|
rs762531109
|
|
|
NM_032043.3(BRIP1):c.1340+13G>T
|
|
|
|
NM_032043.3(BRIP1):c.1340+14T>C
|
rs1057522789
|
|
|
NM_032043.3(BRIP1):c.1340+17A>T
|
|
|
|
NM_032043.3(BRIP1):c.1340+18T>A
|
|
|
|
NM_032043.3(BRIP1):c.1340+19T>C
|
rs2077944993
|
|
|
NM_032043.3(BRIP1):c.1340+1G>A
|
rs1555607022
|
|
|
NM_032043.3(BRIP1):c.1340+20A>G
|
rs2145298307
|
|
|
NM_032043.3(BRIP1):c.1340+2_1340+5del
|
rs2077945546
|
|
|
NM_032043.3(BRIP1):c.1340+3A>C
|
rs1060501770
|
|
|
NM_032043.3(BRIP1):c.1340+5G>C
|
rs869312791
|
|
|
NM_032043.3(BRIP1):c.1340+6A>T
|
|
|
|
NM_032043.3(BRIP1):c.1340+7_1340+9del
|
rs1413352933
|
|
|
NM_032043.3(BRIP1):c.1340+8G>T
|
rs2145298781
|
|
|
NM_032043.3(BRIP1):c.1340+9A>G
|
rs376487588
|
|
|
NM_032043.3(BRIP1):c.1340+9A>T
|
rs376487588
|
|
|
NM_032043.3(BRIP1):c.1340A>C (p.Asn447Thr)
|
rs1603342134
|
|
|
NM_032043.3(BRIP1):c.1341-12A>C
|
|
|
|
NM_032043.3(BRIP1):c.1341-12A>T
|
|
|
|
NM_032043.3(BRIP1):c.1341-15T>C
|
|
|
|
NM_032043.3(BRIP1):c.1341-16T>C
|
|
|
|
NM_032043.3(BRIP1):c.1341-17G>T
|
rs2145245872
|
|
|
NM_032043.3(BRIP1):c.1341-17_1341-13del
|
rs2077857551
|
|
|
NM_032043.3(BRIP1):c.1341-18del
|
|
|
|
NM_032043.3(BRIP1):c.1341-19T>C
|
|
|
|
NM_032043.3(BRIP1):c.1341-1G>C
|
|
|
|
NM_032043.3(BRIP1):c.1341-20del
|
rs2145245949
|
|
|
NM_032043.3(BRIP1):c.1341-2A>C
|
|
|
|
NM_032043.3(BRIP1):c.1341-3C>G
|
rs864622597
|
|
|
NM_032043.3(BRIP1):c.1341-5T>C
|
|
|
|
NM_032043.3(BRIP1):c.1341-6T>A
|
|
|
|
NM_032043.3(BRIP1):c.1341-6T>G
|
|
|
|
NM_032043.3(BRIP1):c.1341-7A>G
|
rs2145245603
|
|
|
NM_032043.3(BRIP1):c.1341-8_1341-4del
|
rs1555605965
|
|
|
NM_032043.3(BRIP1):c.1341-8del
|
rs1567825391
|
|
|
NM_032043.3(BRIP1):c.1343G>T (p.Trp448Leu)
|
rs775171520
|
|
|
NM_032043.3(BRIP1):c.1344G>A (p.Trp448Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1347A>G (p.Leu449=)
|
|
|
|
NM_032043.3(BRIP1):c.1348G>A (p.Glu450Lys)
|
rs2077857156
|
|
|
NM_032043.3(BRIP1):c.1350A>G (p.Glu450=)
|
|
|
|
NM_032043.3(BRIP1):c.1352C>T (p.Ala451Val)
|
rs771861055
|
|
|
NM_032043.3(BRIP1):c.1353A>C (p.Ala451=)
|
|
|
|
NM_032043.3(BRIP1):c.1353A>G (p.Ala451=)
|
|
|
|
NM_032043.3(BRIP1):c.1354A>G (p.Asn452Asp)
|
rs2077857017
|
|
|
NM_032043.3(BRIP1):c.1355A>G (p.Asn452Ser)
|
rs1603340413
|
|
|
NM_032043.3(BRIP1):c.1356C>G (p.Asn452Lys)
|
rs730881640
|
|
|
NM_032043.3(BRIP1):c.1356_1371del (p.Asn452fs)
|
rs2145243883
|
|
|
NM_032043.3(BRIP1):c.1359T>C (p.Ala453=)
|
rs2145244570
|
|
|
NM_032043.3(BRIP1):c.1360G>A (p.Glu454Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter)
|
rs1555605955
|
|
|
NM_032043.3(BRIP1):c.1361A>C (p.Glu454Ala)
|
rs769918040
|
|
|
NM_032043.3(BRIP1):c.1362A>C (p.Glu454Asp)
|
rs786202553
|
|
|
NM_032043.3(BRIP1):c.1362A>G (p.Glu454=)
|
rs786202553
|
|
|
NM_032043.3(BRIP1):c.1363T>C (p.Tyr455His)
|
rs587780826
|
|
|
NM_032043.3(BRIP1):c.1364A>G (p.Tyr455Cys)
|
rs2077856391
|
|
|
NM_032043.3(BRIP1):c.1366C>A (p.Leu456Ile)
|
rs1379791142
|
|
|
NM_032043.3(BRIP1):c.1366C>G (p.Leu456Val)
|
|
|
|
NM_032043.3(BRIP1):c.1367T>A (p.Leu456His)
|
rs1555605947
|
|
|
NM_032043.3(BRIP1):c.1368T>C (p.Leu456=)
|
rs878855138
|
|
|
NM_032043.3(BRIP1):c.1369G>A (p.Val457Ile)
|
rs748221377
|
|
|
NM_032043.3(BRIP1):c.1369G>T (p.Val457Leu)
|
rs748221377
|
|
|
NM_032043.3(BRIP1):c.1370T>G (p.Val457Gly)
|
rs1369274888
|
|
|
NM_032043.3(BRIP1):c.1371A>G (p.Val457=)
|
rs935612010
|
|
|
NM_032043.3(BRIP1):c.1373A>G (p.Glu458Gly)
|
rs1555605942
|
|
|
NM_032043.3(BRIP1):c.1374A>C (p.Glu458Asp)
|
rs2145243668
|
|
|
NM_032043.3(BRIP1):c.1377A>G (p.Arg459=)
|
rs780310294
|
|
|
NM_032043.3(BRIP1):c.1377A>T (p.Arg459Ser)
|
rs780310294
|
|
|
NM_032043.3(BRIP1):c.1378_1379del (p.Asp460fs)
|
rs2145243385
|
|
|
NM_032043.3(BRIP1):c.137G>A (p.Ser46Asn)
|
rs1567877002
|
|
|
NM_032043.3(BRIP1):c.1380T>C (p.Asp460=)
|
rs758735370
|
|
|
NM_032043.3(BRIP1):c.1382A>G (p.Tyr461Cys)
|
|
|
|
NM_032043.3(BRIP1):c.1383T>C (p.Tyr461=)
|
rs587780875
|
|
|
NM_032043.3(BRIP1):c.1383T>G (p.Tyr461Ter)
|
rs587780875
|
|
|
NM_032043.3(BRIP1):c.1384G>C (p.Glu462Gln)
|
rs1603340353
|
|
|
NM_032043.3(BRIP1):c.1384G>T (p.Glu462Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1387T>C (p.Ser463Pro)
|
rs1555605920
|
|
|
NM_032043.3(BRIP1):c.138T>C (p.Ser46=)
|
|
|
|
NM_032043.3(BRIP1):c.1393T>A (p.Cys465Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1399A>T (p.Ile467Leu)
|
|
|
|
NM_032043.3(BRIP1):c.139C>A (p.Pro47Thr)
|
rs28903098
|
|
|
NM_032043.3(BRIP1):c.13T>G (p.Trp5Gly)
|
rs2078973498
|
|
|
NM_032043.3(BRIP1):c.1401A>G (p.Ile467Met)
|
rs764979728
|
|
|
NM_032043.3(BRIP1):c.1402T>C (p.Trp468Arg)
|
rs1369814158
|
|
|
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter)
|
rs2145242325
|
|
|
NM_032043.3(BRIP1):c.1404G>A (p.Trp468Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1404dup (p.Ser469fs)
|
|
|
|
NM_032043.3(BRIP1):c.1405A>T (p.Ser469Cys)
|
rs2077854841
|
|
|
NM_032043.3(BRIP1):c.1406G>A (p.Ser469Asn)
|
|
|
|
NM_032043.3(BRIP1):c.1408G>A (p.Gly470Arg)
|
rs1603340339
|
|
|
NM_032043.3(BRIP1):c.1410A>C (p.Gly470=)
|
|
|
|
NM_032043.3(BRIP1):c.1410A>G (p.Gly470=)
|
|
|
|
NM_032043.3(BRIP1):c.1412A>G (p.Asn471Ser)
|
rs1555605906
|
|
|
NM_032043.3(BRIP1):c.1413T>C (p.Asn471=)
|
rs1555605904
|
|
|
NM_032043.3(BRIP1):c.1414G>C (p.Glu472Gln)
|
rs1555605902
|
|
|
NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter)
|
rs1555605902
|
|
|
NM_032043.3(BRIP1):c.1417del (p.Met473fs)
|
rs2145241576
|
|
|
NM_032043.3(BRIP1):c.1419G>T (p.Met473Ile)
|
|
|
|
NM_032043.3(BRIP1):c.141C>T (p.Pro47=)
|
|
|
|
NM_032043.3(BRIP1):c.141del (p.Thr48fs)
|
rs587782065
|
|
|
NM_032043.3(BRIP1):c.1421T>A (p.Leu474His)
|
|
|
|
NM_032043.3(BRIP1):c.1422C>T (p.Leu474=)
|
rs1555605898
|
|
|
NM_032043.3(BRIP1):c.1423T>G (p.Leu475Val)
|
|
|
|
NM_032043.3(BRIP1):c.1425A>G (p.Leu475=)
|
rs2145241141
|
|
|
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs)
|
rs768736851
|
|
|
NM_032043.3(BRIP1):c.1426del (p.Thr476fs)
|
|
|
|
NM_032043.3(BRIP1):c.1426dup (p.Thr476fs)
|
|
|
|
NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser)
|
rs1567825164
|
|
|
NM_032043.3(BRIP1):c.1428T>C (p.Thr476=)
|
rs1603340327
|
|
|
NM_032043.3(BRIP1):c.1428T>G (p.Thr476=)
|
rs1603340327
|
|
|
NM_032043.3(BRIP1):c.1430T>C (p.Leu477Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1432C>T (p.His478Tyr)
|
rs761452695
|
|
|
NM_032043.3(BRIP1):c.1433A>C (p.His478Pro)
|
rs45501097
|
|
|
NM_032043.3(BRIP1):c.1434C>A (p.His478Gln)
|
rs2077853857
|
|
|
NM_032043.3(BRIP1):c.1434C>T (p.His478=)
|
|
|
|
NM_032043.3(BRIP1):c.1435A>G (p.Lys479Glu)
|
rs2077853790
|
|
|
NM_032043.3(BRIP1):c.1436A>G (p.Lys479Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1438A>G (p.Met480Val)
|
rs1422020047
|
|
|
NM_032043.3(BRIP1):c.143C>G (p.Thr48Arg)
|
rs755317452
|
|
|
NM_032043.3(BRIP1):c.143C>T (p.Thr48Ile)
|
rs755317452
|
|
|
NM_032043.3(BRIP1):c.1440G>A (p.Met480Ile)
|
|
|
|
NM_032043.3(BRIP1):c.1440G>C (p.Met480Ile)
|
rs1555605887
|
|
|
NM_032043.3(BRIP1):c.1441G>A (p.Gly481Ser)
|
rs587780229
|
|
|
NM_032043.3(BRIP1):c.1442G>T (p.Gly481Val)
|
rs200062099
|
|
|
NM_032043.3(BRIP1):c.1442_1443dup (p.Ile482fs)
|
rs2077853451
|
|
|
NM_032043.3(BRIP1):c.1443dup (p.Ile482fs)
|
|
|
|
NM_032043.3(BRIP1):c.1446C>G (p.Ile482Met)
|
rs759360709
|
|
|
NM_032043.3(BRIP1):c.1446C>T (p.Ile482=)
|
rs759360709
|
|
|
NM_032043.3(BRIP1):c.1448C>G (p.Thr483Ser)
|
rs1555605874
|
|
|
NM_032043.3(BRIP1):c.1449C>A (p.Thr483=)
|
|
|
|
NM_032043.3(BRIP1):c.1449C>T (p.Thr483=)
|
rs2077853064
|
|
|
NM_032043.3(BRIP1):c.144A>G (p.Thr48=)
|
rs1423058475
|
|
|
NM_032043.3(BRIP1):c.1450dup (p.Thr484fs)
|
|
|
|
NM_032043.3(BRIP1):c.1451C>T (p.Thr484Ile)
|
rs2145239872
|
|
|
NM_032043.3(BRIP1):c.1452T>C (p.Thr484=)
|
|
|
|
NM_032043.3(BRIP1):c.1453G>A (p.Ala485Thr)
|
rs2077853006
|
|
|
NM_032043.3(BRIP1):c.1453_1455del (p.Ala485del)
|
rs2077852941
|
|
|
NM_032043.3(BRIP1):c.1454C>A (p.Ala485Asp)
|
|
|
|
NM_032043.3(BRIP1):c.1456A>G (p.Thr486Ala)
|
|
|
|
NM_032043.3(BRIP1):c.1457C>T (p.Thr486Ile)
|
rs1603340296
|
|
|
NM_032043.3(BRIP1):c.1457del (p.Thr486fs)
|
rs2145239498
|
|
|
NM_032043.3(BRIP1):c.1457dup (p.Pro488fs)
|
rs2145239459
|
|
|
NM_032043.3(BRIP1):c.145G>A (p.Gly49Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1462C>T (p.Pro488Ser)
|
rs1450320184
|
|
|
NM_032043.3(BRIP1):c.1462_1465del (p.Pro488fs)
|
rs1603340281
|
|
|
NM_032043.3(BRIP1):c.1463C>T (p.Pro488Leu)
|
rs1237035767
|
|
|
NM_032043.3(BRIP1):c.1464C>T (p.Pro488=)
|
rs1603340284
|
|
|
NM_032043.3(BRIP1):c.1465A>G (p.Ile489Val)
|
rs1555605855
|
|
|
NM_032043.3(BRIP1):c.1469T>C (p.Leu490Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1469T>G (p.Leu490Trp)
|
rs2077852333
|
|
|
NM_032043.3(BRIP1):c.1469del (p.Leu490fs)
|
|
|
|
NM_032043.3(BRIP1):c.1470G>T (p.Leu490Phe)
|
rs1567824994
|
|
|
NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1471del (p.Gln491fs)
|
|
|
|
NM_032043.3(BRIP1):c.1472A>G (p.Gln491Arg)
|
rs1555605852
|
|
|
NM_032043.3(BRIP1):c.1472A>T (p.Gln491Leu)
|
rs1555605852
|
|
|
NM_032043.3(BRIP1):c.1473+10T>G
|
|
|
|
NM_032043.3(BRIP1):c.1473+13_1473+14del
|
rs876660968
|
|
|
NM_032043.3(BRIP1):c.1473+14T>C
|
rs1555605845
|
|
|
NM_032043.3(BRIP1):c.1473+14T>G
|
|
|
|
NM_032043.3(BRIP1):c.1473+14del
|
rs876660968
|
|
|
NM_032043.3(BRIP1):c.1473+14dup
|
rs876660968
|
|
|
NM_032043.3(BRIP1):c.1473+15C>G
|
rs2077851707
|
|
|
NM_032043.3(BRIP1):c.1473+16T>C
|
rs1555605844
|
|
|
NM_032043.3(BRIP1):c.1473+1G>A
|
rs748274524
|
|
|
NM_032043.3(BRIP1):c.1473+1G>C
|
rs748274524
|
|
|
NM_032043.3(BRIP1):c.1473+1G>T
|
rs748274524
|
|
|
NM_032043.3(BRIP1):c.1473+3A>G
|
|
|
|
NM_032043.3(BRIP1):c.1473+3A>T
|
rs2077852092
|
|
|
NM_032043.3(BRIP1):c.1473+4_1473+8del
|
rs730881650
|
|
|
NM_032043.3(BRIP1):c.1473+7T>C
|
|
|
|
NM_032043.3(BRIP1):c.1473+8A>G
|
|
|
|
NM_032043.3(BRIP1):c.1473+8A>T
|
|
|
|
NM_032043.3(BRIP1):c.1473G>C (p.Gln491His)
|
|
|
|
NM_032043.3(BRIP1):c.1474-10T>C
|
rs1555603645
|
|
|
NM_032043.3(BRIP1):c.1474-11A>G
|
rs1230175864
|
|
|
NM_032043.3(BRIP1):c.1474-12A>G
|
|
|
|
NM_032043.3(BRIP1):c.1474-12A>T
|
|
|
|
NM_032043.3(BRIP1):c.1474-13_1475del
|
rs1555603635
|
|
|
NM_032043.3(BRIP1):c.1474-13del
|
|
|
|
NM_032043.3(BRIP1):c.1474-14G>A
|
rs2077673537
|
|
|
NM_032043.3(BRIP1):c.1474-14G>T
|
|
|
|
NM_032043.3(BRIP1):c.1474-15G>A
|
|
|
|
NM_032043.3(BRIP1):c.1474-16T>C
|
|
|
|
NM_032043.3(BRIP1):c.1474-17A>G
|
|
|
|
NM_032043.3(BRIP1):c.1474-17A>T
|
rs762049694
|
|
|
NM_032043.3(BRIP1):c.1474-18T>C
|
rs1555603649
|
|
|
NM_032043.3(BRIP1):c.1474-19A>C
|
|
|
|
NM_032043.3(BRIP1):c.1474-1G>A
|
rs1555603638
|
|
|
NM_032043.3(BRIP1):c.1474-1G>C
|
|
|
|
NM_032043.3(BRIP1):c.1474-20A>C
|
|
|
|
NM_032043.3(BRIP1):c.1474-20A>T
|
rs1462969643
|
|
|
NM_032043.3(BRIP1):c.1474-2A>G
|
rs1603337052
|
|
|
NM_032043.3(BRIP1):c.1474-4A>C
|
|
|
|
NM_032043.3(BRIP1):c.1474-4A>G
|
rs2145142626
|
|
|
NM_032043.3(BRIP1):c.1474-5T>G
|
|
|
|
NM_032043.3(BRIP1):c.1474-7C>T
|
rs886041146
|
|
|
NM_032043.3(BRIP1):c.1474-9T>G
|
rs863224432
|
|
|
NM_032043.3(BRIP1):c.1474G>A (p.Gly492Arg)
|
rs2145142389
|
|
|
NM_032043.3(BRIP1):c.1474G>T (p.Gly492Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1475G>T (p.Gly492Val)
|
rs2077672955
|
|
|
NM_032043.3(BRIP1):c.1477C>T (p.His493Tyr)
|
rs1555603628
|
|
|
NM_032043.3(BRIP1):c.1478A>T (p.His493Leu)
|
rs1555603626
|
|
|
NM_032043.3(BRIP1):c.1479T>C (p.His493=)
|
rs2077672800
|
|
|
NM_032043.3(BRIP1):c.147A>G (p.Gly49=)
|
rs2145851438
|
|
|
NM_032043.3(BRIP1):c.1480T>C (p.Phe494Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1483T>G (p.Ser495Ala)
|
rs1555603617
|
|
|
NM_032043.3(BRIP1):c.1483dup (p.Ser495fs)
|
rs1555603622
|
|
|
NM_032043.3(BRIP1):c.1484C>A (p.Ser495Tyr)
|
rs536081549
|
|
|
NM_032043.3(BRIP1):c.1485T>G (p.Ser495=)
|
rs370658123
|
|
|
NM_032043.3(BRIP1):c.1487C>T (p.Ala496Val)
|
rs1555603612
|
|
|
NM_032043.3(BRIP1):c.1488T>C (p.Ala496=)
|
rs1603337034
|
|
|
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs)
|
rs747214372
|
|
|
NM_032043.3(BRIP1):c.1489G>A (p.Val497Ile)
|
rs876658725
|
|
|
NM_032043.3(BRIP1):c.1489G>C (p.Val497Leu)
|
rs876658725
|
|
|
NM_032043.3(BRIP1):c.148A>G (p.Ser50Gly)
|
rs2078950409
|
|
|
NM_032043.3(BRIP1):c.1492C>A (p.Leu498Ile)
|
rs1603337024
|
|
|
NM_032043.3(BRIP1):c.1493T>A (p.Leu498His)
|
rs1555603600
|
|
|
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter)
|
rs1060501739
|
|
|
NM_032043.3(BRIP1):c.1496A>G (p.Gln499Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1497A>G (p.Gln499=)
|
rs1555603597
|
|
|
NM_032043.3(BRIP1):c.1498A>G (p.Lys500Glu)
|
rs2077672083
|
|
|
NM_032043.3(BRIP1):c.14G>A (p.Trp5Ter)
|
rs1555618738
|
|
|
NM_032043.3(BRIP1):c.1500dup (p.Glu501fs)
|
|
|
|
NM_032043.3(BRIP1):c.1501G>C (p.Glu501Gln)
|
|
|
|
NM_032043.3(BRIP1):c.1503G>A (p.Glu501=)
|
|
|
|
NM_032043.3(BRIP1):c.1504G>A (p.Glu502Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1504G>T (p.Glu502Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1506A>G (p.Glu502=)
|
rs1057523215
|
|
|
NM_032043.3(BRIP1):c.1507A>G (p.Lys503Glu)
|
rs1555603594
|
|
|
NM_032043.3(BRIP1):c.1509A>C (p.Lys503Asn)
|
rs1443429619
|
|
|
NM_032043.3(BRIP1):c.1509A>G (p.Lys503=)
|
rs1443429619
|
|
|
NM_032043.3(BRIP1):c.1510del (p.Ile504fs)
|
rs775735278
|
|
|
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)
|
rs775735278
|
|
|
NM_032043.3(BRIP1):c.1511T>C (p.Ile504Thr)
|
rs755306832
|
|
|
NM_032043.3(BRIP1):c.1512C>A (p.Ile504=)
|
rs876660478
|
|
|
NM_032043.3(BRIP1):c.1512C>G (p.Ile504Met)
|
rs876660478
|
|
|
NM_032043.3(BRIP1):c.1512C>T (p.Ile504=)
|
rs876660478
|
|
|
NM_032043.3(BRIP1):c.1513T>C (p.Ser505Pro)
|
rs1603337009
|
|
|
NM_032043.3(BRIP1):c.1514C>T (p.Ser505Leu)
|
rs945661395
|
|
|
NM_032043.3(BRIP1):c.1515A>G (p.Ser505=)
|
rs2145139643
|
|
|
NM_032043.3(BRIP1):c.1516C>A (p.Pro506Thr)
|
rs2077671245
|
|
|
NM_032043.3(BRIP1):c.1516C>T (p.Pro506Ser)
|
rs2077671245
|
|
|
NM_032043.3(BRIP1):c.1517C>A (p.Pro506Gln)
|
rs2077671171
|
|
|
NM_032043.3(BRIP1):c.1517C>T (p.Pro506Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1518A>G (p.Pro506=)
|
rs1603337002
|
|
|
NM_032043.3(BRIP1):c.1519A>G (p.Ile507Val)
|
rs1555603569
|
|
|
NM_032043.3(BRIP1):c.1522T>G (p.Tyr508Asp)
|
rs2077671034
|
|
|
NM_032043.3(BRIP1):c.1523A>G (p.Tyr508Cys)
|
rs1567817029
|
|
|
NM_032043.3(BRIP1):c.1524T>C (p.Tyr508=)
|
rs1060504326
|
|
|
NM_032043.3(BRIP1):c.1526G>A (p.Gly509Asp)
|
rs1555603567
|
|
|
NM_032043.3(BRIP1):c.1527T>C (p.Gly509=)
|
|
|
|
NM_032043.3(BRIP1):c.1527del (p.Glu511fs)
|
|
|
|
NM_032043.3(BRIP1):c.1528A>G (p.Lys510Glu)
|
rs1603336991
|
|
|
NM_032043.3(BRIP1):c.1529A>C (p.Lys510Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1529_1530del (p.Lys510fs)
|
|
|
|
NM_032043.3(BRIP1):c.1531G>T (p.Glu511Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1533G>A (p.Glu511=)
|
rs1418736430
|
|
|
NM_032043.3(BRIP1):c.1534G>A (p.Glu512Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1534G>T (p.Glu512Ter)
|
rs1603336980
|
|
|
NM_032043.3(BRIP1):c.1535A>G (p.Glu512Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1536G>A (p.Glu512=)
|
rs876658531
|
|
|
NM_032043.3(BRIP1):c.1537del (p.Ala513fs)
|
rs1567816997
|
|
|
NM_032043.3(BRIP1):c.1538C>T (p.Ala513Val)
|
|
|
|
NM_032043.3(BRIP1):c.153A>G (p.Gly51=)
|
rs1603367703
|
|
|
NM_032043.3(BRIP1):c.1543G>A (p.Glu515Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1543del (p.Glu515fs)
|
rs1064793812
|
|
|
NM_032043.3(BRIP1):c.1545A>C (p.Glu515Asp)
|
rs1567816977
|
|
|
NM_032043.3(BRIP1):c.1545A>G (p.Glu515=)
|
|
|
|
NM_032043.3(BRIP1):c.1546G>A (p.Val516Ile)
|
rs1567816972
|
|
|
NM_032043.3(BRIP1):c.1547T>A (p.Val516Glu)
|
rs2077670264
|
|
|
NM_032043.3(BRIP1):c.1548A>G (p.Val516=)
|
|
|
|
NM_032043.3(BRIP1):c.1549C>T (p.Pro517Ser)
|
rs1603336970
|
|
|
NM_032043.3(BRIP1):c.1550C>T (p.Pro517Leu)
|
rs786202169
|
|
|
NM_032043.3(BRIP1):c.1551_1552delinsAACAGGTAC (p.Val518fs)
|
|
|
|
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile)
|
rs786201701
|
|
|
NM_032043.3(BRIP1):c.1553T>A (p.Val518Asp)
|
rs1555603541
|
|
|
NM_032043.3(BRIP1):c.1555A>T (p.Ile519Phe)
|
rs2145137902
|
|
|
NM_032043.3(BRIP1):c.1556T>C (p.Ile519Thr)
|
rs1555603538
|
|
|
NM_032043.3(BRIP1):c.1558A>G (p.Ser520Gly)
|
rs2077669665
|
|
|
NM_032043.3(BRIP1):c.1559G>A (p.Ser520Asn)
|
rs757629526
|
|
|
NM_032043.3(BRIP1):c.1560T>C (p.Ser520=)
|
|
|
|
NM_032043.3(BRIP1):c.1561G>A (p.Ala521Thr)
|
rs913184257
|
|
|
NM_032043.3(BRIP1):c.1562C>T (p.Ala521Val)
|
rs2077669449
|
|
|
NM_032043.3(BRIP1):c.1564T>C (p.Ser522Pro)
|
rs2077669404
|
|
|
NM_032043.3(BRIP1):c.1566A>G (p.Ser522=)
|
rs985465808
|
|
|
NM_032043.3(BRIP1):c.1567A>G (p.Thr523Ala)
|
rs1555603510
|
|
|
NM_032043.3(BRIP1):c.1568C>T (p.Thr523Ile)
|
rs1060501764
|
|
|
NM_032043.3(BRIP1):c.1569T>C (p.Thr523=)
|
rs2145137253
|
|
|
NM_032043.3(BRIP1):c.156A>C (p.Lys52Asn)
|
rs1603367700
|
|
|
NM_032043.3(BRIP1):c.156A>G (p.Lys52=)
|
rs1603367700
|
|
|
NM_032043.3(BRIP1):c.1571A>C (p.Gln524Pro)
|
rs587781726
|
|
|
NM_032043.3(BRIP1):c.1571A>T (p.Gln524Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu)
|
rs1064795196
|
|
|
NM_032043.3(BRIP1):c.1577T>A (p.Met526Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1578G>A (p.Met526Ile)
|
rs2077668951
|
|
|
NM_032043.3(BRIP1):c.1580T>G (p.Leu527Arg)
|
rs1603336934
|
|
|
NM_032043.3(BRIP1):c.1581T>G (p.Leu527=)
|
rs2145136829
|
|
|
NM_032043.3(BRIP1):c.1582A>G (p.Lys528Glu)
|
rs748962730
|
|
|
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1582_1584delinsG (p.Lys528fs)
|
|
|
|
NM_032043.3(BRIP1):c.1584del (p.Gly529fs)
|
|
|
|
NM_032043.3(BRIP1):c.1585G>C (p.Gly529Arg)
|
rs876659321
|
|
|
NM_032043.3(BRIP1):c.1585G>T (p.Gly529Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1587A>G (p.Gly529=)
|
|
|
|
NM_032043.3(BRIP1):c.1587A>T (p.Gly529=)
|
|
|
|
NM_032043.3(BRIP1):c.1588C>T (p.Leu530Phe)
|
rs1326418771
|
|
|
NM_032043.3(BRIP1):c.1589T>C (p.Leu530Pro)
|
rs1603336923
|
|
|
NM_032043.3(BRIP1):c.158G>A (p.Ser53Asn)
|
rs751182362
|
|
|
NM_032043.3(BRIP1):c.158_159delinsTT (p.Ser53Ile)
|
rs786202417
|
|
|
NM_032043.3(BRIP1):c.158del (p.Ser53fs)
|
|
|
|
NM_032043.3(BRIP1):c.1591T>G (p.Phe531Val)
|
rs4988350
|
|
|
NM_032043.3(BRIP1):c.1592T>C (p.Phe531Ser)
|
rs878855139
|
|
|
NM_032043.3(BRIP1):c.1592_1598del (p.Phe531fs)
|
|
|
|
NM_032043.3(BRIP1):c.1593dup (p.Met532fs)
|
|
|
|
NM_032043.3(BRIP1):c.1594A>T (p.Met532Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1594del (p.Met532fs)
|
|
|
|
NM_032043.3(BRIP1):c.1596G>A (p.Met532Ile)
|
rs2145136186
|
|
|
NM_032043.3(BRIP1):c.1598_1599dup (p.Leu534fs)
|
|
|
|
NM_032043.3(BRIP1):c.15G>A (p.Trp5Ter)
|
rs2078973424
|
|
|
NM_032043.3(BRIP1):c.15G>C (p.Trp5Cys)
|
rs2078973424
|
|
|
NM_032043.3(BRIP1):c.1601T>C (p.Leu534Pro)
|
|
|
|
NM_032043.3(BRIP1):c.1602T>C (p.Leu534=)
|
rs974139602
|
|
|
NM_032043.3(BRIP1):c.1602_1606delinsC (p.Asp535fs)
|
|
|
|
NM_032043.3(BRIP1):c.1603G>C (p.Asp535His)
|
|
|
|
NM_032043.3(BRIP1):c.1603_1606del (p.Asp535fs)
|
rs2145135739
|
|
|
NM_032043.3(BRIP1):c.1605C>T (p.Asp535=)
|
rs56024614
|
|
|
NM_032043.3(BRIP1):c.1608T>C (p.Tyr536=)
|
rs1603336910
|
|
|
NM_032043.3(BRIP1):c.1608del (p.Leu537fs)
|
rs2145135618
|
|
|
NM_032043.3(BRIP1):c.1609C>G (p.Leu537Val)
|
rs864622208
|
|
|
NM_032043.3(BRIP1):c.1610T>C (p.Leu537Pro)
|
rs1567816751
|
|
|
NM_032043.3(BRIP1):c.1611T>G (p.Leu537=)
|
|
|
|
NM_032043.3(BRIP1):c.1612T>C (p.Phe538Leu)
|
rs1603336907
|
|
|
NM_032043.3(BRIP1):c.1614T>C (p.Phe538=)
|
rs2145135352
|
|
|
NM_032043.3(BRIP1):c.1614del (p.Phe538fs)
|
rs2077667669
|
|
|
NM_032043.3(BRIP1):c.1615A>C (p.Arg539=)
|
rs1555603468
|
|
|
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys)
|
rs199616792
|
|
|
NM_032043.3(BRIP1):c.1617G>A (p.Arg539=)
|
rs2145135194
|
|
|
NM_032043.3(BRIP1):c.1618C>T (p.Gln540Ter)
|
rs1603336897
|
|
|
NM_032043.3(BRIP1):c.161T>G (p.Leu54Ter)
|
rs2078949879
|
|
|
NM_032043.3(BRIP1):c.1620A>G (p.Gln540=)
|
rs2145135063
|
|
|
NM_032043.3(BRIP1):c.1622del (p.Asn541fs)
|
rs1603336895
|
|
|
NM_032043.3(BRIP1):c.1623T>C (p.Asn541=)
|
rs786203897
|
|
|
NM_032043.3(BRIP1):c.1623T>G (p.Asn541Lys)
|
rs786203897
|
|
|
NM_032043.3(BRIP1):c.1626_1628del (p.Ser542del)
|
rs1555603461
|
|
|
NM_032043.3(BRIP1):c.1628+10G>C
|
|
|
|
NM_032043.3(BRIP1):c.1628+12T>C
|
|
|
|
NM_032043.3(BRIP1):c.1628+14A>G
|
|
|
|
NM_032043.3(BRIP1):c.1628+15C>T
|
rs751454994
|
|
|
NM_032043.3(BRIP1):c.1628+17A>G
|
|
|
|
NM_032043.3(BRIP1):c.1628+19T>C
|
|
|
|
NM_032043.3(BRIP1):c.1628+1G>C
|
rs1438975574
|
|
|
NM_032043.3(BRIP1):c.1628+1G>T
|
|
|
|
NM_032043.3(BRIP1):c.1628+2T>G
|
|
|
|
NM_032043.3(BRIP1):c.1628+4del
|
|
|
|
NM_032043.3(BRIP1):c.1628+5G>A
|
rs754929230
|
|
|
NM_032043.3(BRIP1):c.1628+6T>C
|
rs1567816699
|
|
|
NM_032043.3(BRIP1):c.1628+6T>G
|
rs1567816699
|
|
|
NM_032043.3(BRIP1):c.1628+7G>A
|
rs2077666975
|
|
|
NM_032043.3(BRIP1):c.1628+9A>G
|
|
|
|
NM_032043.3(BRIP1):c.1628+9A>T
|
rs2145134529
|
|
|
NM_032043.3(BRIP1):c.1629-13T>C
|
rs2145098509
|
|
|
NM_032043.3(BRIP1):c.1629-14T>C
|
rs1057523831
|
|
|
NM_032043.3(BRIP1):c.1629-14T>G
|
rs1057523831
|
|
|
NM_032043.3(BRIP1):c.1629-16C>T
|
|
|
|
NM_032043.3(BRIP1):c.1629-17A>G
|
|
|
|
NM_032043.3(BRIP1):c.1629-17_1652del
|
|
|
|
NM_032043.3(BRIP1):c.1629-19G>T
|
|
|
|
NM_032043.3(BRIP1):c.1629-1G>A
|
rs1060501757
|
|
|
NM_032043.3(BRIP1):c.1629-1G>C
|
rs1060501757
|
|
|
NM_032043.3(BRIP1):c.1629-1G>T
|
rs1060501757
|
|
|
NM_032043.3(BRIP1):c.1629-3T>G
|
|
|
|
NM_032043.3(BRIP1):c.1629-4C>A
|
|
|
|
NM_032043.3(BRIP1):c.1629-4C>T
|
rs747704211
|
|
|
NM_032043.3(BRIP1):c.1629-6A>G
|
rs755767691
|
|
|
NM_032043.3(BRIP1):c.1629-7C>T
|
|
|
|
NM_032043.3(BRIP1):c.1629-7_1642del
|
|
|
|
NM_032043.3(BRIP1):c.1629-9T>A
|
|
|
|
NM_032043.3(BRIP1):c.162A>G (p.Leu54=)
|
|
|
|
NM_032043.3(BRIP1):c.1637A>G (p.Asp546Gly)
|
rs2077612367
|
|
|
NM_032043.3(BRIP1):c.1639G>T (p.Asp547Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.1640A>G (p.Asp547Gly)
|
rs2077612324
|
|
|
NM_032043.3(BRIP1):c.1643A>C (p.Tyr548Ser)
|
rs587782405
|
|
|
NM_032043.3(BRIP1):c.1643A>G (p.Tyr548Cys)
|
rs587782405
|
|
|
NM_032043.3(BRIP1):c.1645_1649dup (p.Ala551fs)
|
rs1555602638
|
|
|
NM_032043.3(BRIP1):c.1647A>G (p.Lys549=)
|
|
|
|
NM_032043.3(BRIP1):c.164C>T (p.Ala55Val)
|
rs1603367684
|
|
|
NM_032043.3(BRIP1):c.1650T>A (p.Ile550=)
|
rs587782254
|
|
|
NM_032043.3(BRIP1):c.1651G>C (p.Ala551Pro)
|
rs766302517
|
|
|
NM_032043.3(BRIP1):c.1652C>T (p.Ala551Val)
|
rs375246789
|
|
|
NM_032043.3(BRIP1):c.1653G>A (p.Ala551=)
|
rs750213758
|
|
|
NM_032043.3(BRIP1):c.1653G>T (p.Ala551=)
|
rs750213758
|
|
|
NM_032043.3(BRIP1):c.1654A>G (p.Ile552Val)
|
rs1603334819
|
|
|
NM_032043.3(BRIP1):c.1659A>C (p.Gln553His)
|
rs876660693
|
|
|
NM_032043.3(BRIP1):c.1659A>G (p.Gln553=)
|
rs876660693
|
|
|
NM_032043.3(BRIP1):c.165C>T (p.Ala55=)
|
rs1603367680
|
|
|
NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter)
|
rs777217004
|
|
|
NM_032043.3(BRIP1):c.1660_1661del (p.Gln554fs)
|
|
|
|
NM_032043.3(BRIP1):c.1661A>T (p.Gln554Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1661del (p.Gln554fs)
|
rs749762964
|
|
|
NM_032043.3(BRIP1):c.1662G>A (p.Gln554=)
|
|
|
|
NM_032043.3(BRIP1):c.1662G>C (p.Gln554His)
|
rs1060501749
|
|
|
NM_032043.3(BRIP1):c.1662_1663del (p.Gln554fs)
|
rs1603334758
|
|
|
NM_032043.3(BRIP1):c.1663A>G (p.Thr555Ala)
|
rs2077611229
|
|
|
NM_032043.3(BRIP1):c.1665T>G (p.Thr555=)
|
|
|
|
NM_032043.3(BRIP1):c.1666T>C (p.Tyr556His)
|
rs752797989
|
|
|
NM_032043.3(BRIP1):c.1666_1669dup (p.Ser557fs)
|
rs2077611091
|
|
|
NM_032043.3(BRIP1):c.1668C>T (p.Tyr556=)
|
rs1416513467
|
|
|
NM_032043.3(BRIP1):c.1669T>C (p.Ser557Pro)
|
rs2145096206
|
|
|
NM_032043.3(BRIP1):c.1671C>G (p.Ser557=)
|
|
|
|
NM_032043.3(BRIP1):c.1671C>T (p.Ser557=)
|
rs2077610991
|
|
|
NM_032043.3(BRIP1):c.1673G>A (p.Trp558Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1674G>A (p.Trp558Ter)
|
rs2145095898
|
|
|
NM_032043.3(BRIP1):c.1676C>G (p.Thr559Arg)
|
rs876658266
|
|
|
NM_032043.3(BRIP1):c.1676C>T (p.Thr559Ile)
|
rs876658266
|
|
|
NM_032043.3(BRIP1):c.1677A>C (p.Thr559=)
|
|
|
|
NM_032043.3(BRIP1):c.1678A>C (p.Asn560His)
|
|
|
|
NM_032043.3(BRIP1):c.1678_1682del (p.Asn560fs)
|
|
|
|
NM_032043.3(BRIP1):c.1679A>T (p.Asn560Ile)
|
rs1555602592
|
|
|
NM_032043.3(BRIP1):c.1680T>C (p.Asn560=)
|
rs2145095721
|
|
|
NM_032043.3(BRIP1):c.1682A>C (p.Gln561Pro)
|
rs1603334713
|
|
|
NM_032043.3(BRIP1):c.1683G>A (p.Gln561=)
|
|
|
|
NM_032043.3(BRIP1):c.1683G>C (p.Gln561His)
|
rs1209325148
|
|
|
NM_032043.3(BRIP1):c.1683G>T (p.Gln561His)
|
|
|
|
NM_032043.3(BRIP1):c.1683_1684del (p.Gln561fs)
|
rs2077610620
|
|
|
NM_032043.3(BRIP1):c.1685T>C (p.Ile562Thr)
|
rs2077610488
|
|
|
NM_032043.3(BRIP1):c.1686T>A (p.Ile562=)
|
|
|
|
NM_032043.3(BRIP1):c.1686T>C (p.Ile562=)
|
rs1374464175
|
|
|
NM_032043.3(BRIP1):c.1686T>G (p.Ile562Met)
|
|
|
|
NM_032043.3(BRIP1):c.1686del (p.Ile562fs)
|
|
|
|
NM_032043.3(BRIP1):c.1687G>A (p.Asp563Asn)
|
rs2145095363
|
|
|
NM_032043.3(BRIP1):c.1687_1689del (p.Asp563del)
|
rs780590493
|
|
|
NM_032043.3(BRIP1):c.1688A>T (p.Asp563Val)
|
rs577768294
|
|
|
NM_032043.3(BRIP1):c.1689T>C (p.Asp563=)
|
rs1603334654
|
|
|
NM_032043.3(BRIP1):c.168A>G (p.Leu56=)
|
rs2145850652
|
|
|
NM_032043.3(BRIP1):c.168_171del (p.Leu56fs)
|
rs1603367673
|
|
|
NM_032043.3(BRIP1):c.1691T>C (p.Ile564Thr)
|
rs755635967
|
|
|
NM_032043.3(BRIP1):c.1692T>C (p.Ile564=)
|
rs786202979
|
|
|
NM_032043.3(BRIP1):c.1694C>A (p.Ser565Ter)
|
rs1603334619
|
|
|
NM_032043.3(BRIP1):c.1694C>T (p.Ser565Leu)
|
rs1603334619
|
|
|
NM_032043.3(BRIP1):c.1697A>C (p.Asp566Ala)
|
rs1603334596
|
|
|
NM_032043.3(BRIP1):c.1697A>G (p.Asp566Gly)
|
|
|
|
NM_032043.3(BRIP1):c.1697A>T (p.Asp566Val)
|
rs1603334596
|
|
|
NM_032043.3(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Asp566_Lys567insIleSerAsnTer)
|
rs878855140
|
|
|
NM_032043.3(BRIP1):c.1697del (p.Asp566fs)
|
rs2077609777
|
|
|
NM_032043.3(BRIP1):c.1698C>G (p.Asp566Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1698C>T (p.Asp566=)
|
rs1555602561
|
|
|
NM_032043.3(BRIP1):c.1699A>T (p.Lys567Ter)
|
rs2145094630
|
|
|
NM_032043.3(BRIP1):c.1702A>T (p.Asn568Tyr)
|
rs2077609583
|
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
|
NM_032043.3(BRIP1):c.1702_1703delinsT (p.Asn568fs)
|
|
|
|
NM_032043.3(BRIP1):c.1702_1704del (p.Asn568del)
|
rs1555602554
|
|
|
NM_032043.3(BRIP1):c.1703del (p.Asn568fs)
|
|
|
|
NM_032043.3(BRIP1):c.1704T>C (p.Asn568=)
|
|
|
|
NM_032043.3(BRIP1):c.1705G>C (p.Gly569Arg)
|
rs1259933364
|
|
|
NM_032043.3(BRIP1):c.1705G>T (p.Gly569Trp)
|
rs1259933364
|
|
|
NM_032043.3(BRIP1):c.1706G>A (p.Gly569Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1706G>C (p.Gly569Ala)
|
rs373228183
|
|
|
NM_032043.3(BRIP1):c.1706G>T (p.Gly569Val)
|
rs373228183
|
|
|
NM_032043.3(BRIP1):c.1707G>A (p.Gly569=)
|
rs878855141
|
|
|
NM_032043.3(BRIP1):c.1707G>T (p.Gly569=)
|
|
|
|
NM_032043.3(BRIP1):c.1707del (p.Leu570fs)
|
rs2077609211
|
|
|
NM_032043.3(BRIP1):c.1708TTG[1] (p.Leu571del)
|
rs754566378
|
|
|
NM_032043.3(BRIP1):c.1709T>A (p.Leu570Ter)
|
rs2077609103
|
|
|
NM_032043.3(BRIP1):c.1709T>C (p.Leu570Ser)
|
rs2077609103
|
|
|
NM_032043.3(BRIP1):c.1710G>C (p.Leu570Phe)
|
rs370087045
|
|
|
NM_032043.3(BRIP1):c.1713G>A (p.Leu571=)
|
|
|
|
NM_032043.3(BRIP1):c.1713G>C (p.Leu571Phe)
|
|
|
|
NM_032043.3(BRIP1):c.1714G>A (p.Val572Ile)
|
rs1567813643
|
|
|
NM_032043.3(BRIP1):c.1714G>C (p.Val572Leu)
|
rs1567813643
|
|
|
NM_032043.3(BRIP1):c.1715T>G (p.Val572Gly)
|
rs1603334516
|
|
|
NM_032043.3(BRIP1):c.1717C>T (p.Leu573=)
|
|
|
|
NM_032043.3(BRIP1):c.1720C>T (p.Pro574Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1721C>G (p.Pro574Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1725A>G (p.Lys575=)
|
rs1555602537
|
|
|
NM_032043.3(BRIP1):c.1727A>G (p.Asn576Ser)
|
rs587778132
|
|
|
NM_032043.3(BRIP1):c.1727del (p.Asn576fs)
|
|
|
|
NM_032043.3(BRIP1):c.1727dup (p.Asn576fs)
|
rs587778131
|
|
|
NM_032043.3(BRIP1):c.1728T>C (p.Asn576=)
|
rs1555602531
|
|
|
NM_032043.3(BRIP1):c.1729A>T (p.Lys577Ter)
|
|
|
|
NM_032043.3(BRIP1):c.172T>C (p.Cys58Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1730A>G (p.Lys577Arg)
|
rs1411869768
|
|
|
NM_032043.3(BRIP1):c.1731_1733del (p.Lys578del)
|
rs1355330975
|
|
|
NM_032043.3(BRIP1):c.1734A>G (p.Lys578=)
|
rs786202592
|
|
|
NM_032043.3(BRIP1):c.1734del (p.Lys578fs)
|
|
|
|
NM_032043.3(BRIP1):c.1734dup (p.Arg579fs)
|
|
|
|
NM_032043.3(BRIP1):c.1735C>A (p.Arg579Ser)
|
rs28997571
|
|
|
NM_032043.3(BRIP1):c.1737T>G (p.Arg579=)
|
|
|
|
NM_032043.3(BRIP1):c.1738T>A (p.Ser580Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter)
|
rs1356014648
|
|
|
NM_032043.3(BRIP1):c.1739C>T (p.Ser580Leu)
|
rs1356014648
|
|
|
NM_032043.3(BRIP1):c.173G>C (p.Cys58Ser)
|
rs749920386
|
|
|
NM_032043.3(BRIP1):c.173dup (p.Cys58fs)
|
|
|
|
NM_032043.3(BRIP1):c.1740A>G (p.Ser580=)
|
rs2145092732
|
|
|
NM_032043.3(BRIP1):c.1742_1744del (p.Arg581del)
|
|
|
|
NM_032043.3(BRIP1):c.1744C>A (p.Gln582Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1744C>T (p.Gln582Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1751C>A (p.Thr584Asn)
|
rs2145092153
|
|
|
NM_032043.3(BRIP1):c.1751C>G (p.Thr584Ser)
|
rs2145092153
|
|
|
NM_032043.3(BRIP1):c.1753G>A (p.Ala585Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1753G>C (p.Ala585Pro)
|
rs1603334364
|
|
|
NM_032043.3(BRIP1):c.1756G>C (p.Val586Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1758T>C (p.Val586=)
|
rs863224433
|
|
|
NM_032043.3(BRIP1):c.1758del (p.His587fs)
|
|
|
|
NM_032043.3(BRIP1):c.1759C>A (p.His587Asn)
|
rs876660519
|
|
|
NM_032043.3(BRIP1):c.1759del (p.His587fs)
|
|
|
|
NM_032043.3(BRIP1):c.1760A>G (p.His587Arg)
|
rs876660646
|
|
|
NM_032043.3(BRIP1):c.1760A>T (p.His587Leu)
|
rs876660646
|
|
|
NM_032043.3(BRIP1):c.1761T>C (p.His587=)
|
rs1603334313
|
|
|
NM_032043.3(BRIP1):c.1762G>A (p.Val588Met)
|
rs876660355
|
|
|
NM_032043.3(BRIP1):c.1762G>T (p.Val588Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1766T>G (p.Leu589Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1767A>G (p.Leu589=)
|
rs1057523711
|
|
|
NM_032043.3(BRIP1):c.176C>G (p.Ser59Cys)
|
|
|
|
NM_032043.3(BRIP1):c.176C>T (p.Ser59Phe)
|
rs2078949491
|
|
|
NM_032043.3(BRIP1):c.176_180delinsTTGCAGTTACAAAACAAAGCATGGCAACAATCTC (p.Ser59fs)
|
|
|
|
NM_032043.3(BRIP1):c.1770C>A (p.Asn590Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1770C>G (p.Asn590Lys)
|
rs2077606990
|
|
|
NM_032043.3(BRIP1):c.1770C>T (p.Asn590=)
|
|
|
|
NM_032043.3(BRIP1):c.1770_1771delinsA (p.Asn590fs)
|
|
|
|
NM_032043.3(BRIP1):c.1770del (p.Trp592fs)
|
rs2145091141
|
|
|
NM_032043.3(BRIP1):c.1773T>C (p.Phe591=)
|
rs1057523507
|
|
|
NM_032043.3(BRIP1):c.1774T>C (p.Trp592Arg)
|
|
|
|
NM_032043.3(BRIP1):c.1774T>G (p.Trp592Gly)
|
rs587780231
|
|
|
NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter)
|
rs753023295
|
|
|
NM_032043.3(BRIP1):c.1776G>T (p.Trp592Cys)
|
rs753023295
|
|
|
NM_032043.3(BRIP1):c.1779C>T (p.Cys593=)
|
|
|
|
NM_032043.3(BRIP1):c.1780T>C (p.Leu594=)
|
rs876658256
|
|
|
NM_032043.3(BRIP1):c.1780T>G (p.Leu594Val)
|
rs876658256
|
|
|
NM_032043.3(BRIP1):c.1780_1781delinsAA
|
|
|
|
NM_032043.3(BRIP1):c.1781T>C (p.Leu594Ser)
|
rs587781559
|
|
|
NM_032043.3(BRIP1):c.1781T>G (p.Leu594Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1782A>T (p.Leu594Phe)
|
rs1567813260
|
|
|
NM_032043.3(BRIP1):c.1785T>C (p.Asn595=)
|
rs1603334224
|
|
|
NM_032043.3(BRIP1):c.1786C>A (p.Pro596Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1787C>T (p.Pro596Leu)
|
rs864622155
|
|
|
NM_032043.3(BRIP1):c.1788A>G (p.Pro596=)
|
rs1555602434
|
|
|
NM_032043.3(BRIP1):c.1789G>T (p.Ala597Ser)
|
rs2077606219
|
|
|
NM_032043.3(BRIP1):c.178G>A (p.Ala60Thr)
|
rs1555618394
|
|
|
NM_032043.3(BRIP1):c.178G>C (p.Ala60Pro)
|
rs1555618394
|
|
|
NM_032043.3(BRIP1):c.1790C>G (p.Ala597Gly)
|
rs751667661
|
|
|
NM_032043.3(BRIP1):c.1791T>C (p.Ala597=)
|
|
|
|
NM_032043.3(BRIP1):c.1791T>G (p.Ala597=)
|
rs1060504323
|
|
|
NM_032043.3(BRIP1):c.1791del (p.Val598fs)
|
rs1567813223
|
|
|
NM_032043.3(BRIP1):c.1794+10T>A
|
rs763543426
|
|
|
NM_032043.3(BRIP1):c.1794+10T>C
|
rs763543426
|
|
|
NM_032043.3(BRIP1):c.1794+11C>T
|
|
|
|
NM_032043.3(BRIP1):c.1794+12A>G
|
rs773521085
|
|
|
NM_032043.3(BRIP1):c.1794+13T>C
|
|
|
|
NM_032043.3(BRIP1):c.1794+13T>G
|
rs2145089397
|
|
|
NM_032043.3(BRIP1):c.1794+14G>C
|
|
|
|
NM_032043.3(BRIP1):c.1794+15T>C
|
|
|
|
NM_032043.3(BRIP1):c.1794+19T>G
|
|
|
|
NM_032043.3(BRIP1):c.1794+2T>G
|
|
|
|
NM_032043.3(BRIP1):c.1794+2dup
|
rs2077605901
|
|
|
NM_032043.3(BRIP1):c.1794+6C>T
|
rs1429375125
|
|
|
NM_032043.3(BRIP1):c.1794+7T>G
|
rs2145089607
|
|
|
NM_032043.3(BRIP1):c.1794+8C>G
|
|
|
|
NM_032043.3(BRIP1):c.1794+8C>T
|
|
|
|
NM_032043.3(BRIP1):c.1795-10T>C
|
|
|
|
NM_032043.3(BRIP1):c.1795-12G>A
|
rs762289143
|
|
|
NM_032043.3(BRIP1):c.1795-12_1795-10del
|
rs1475317357
|
|
|
NM_032043.3(BRIP1):c.1795-15G>A
|
|
|
|
NM_032043.3(BRIP1):c.1795-16T>G
|
|
|
|
NM_032043.3(BRIP1):c.1795-17A>G
|
rs1567812766
|
|
|
NM_032043.3(BRIP1):c.1795-17A>T
|
|
|
|
NM_032043.3(BRIP1):c.1795-18A>C
|
|
|
|
NM_032043.3(BRIP1):c.1795-18_1795-6del
|
rs1603333451
|
|
|
NM_032043.3(BRIP1):c.1795-19T>C
|
|
|
|
NM_032043.3(BRIP1):c.1795-1G>A
|
rs1368457771
|
|
|
NM_032043.3(BRIP1):c.1795-1G>C
|
|
|
|
NM_032043.3(BRIP1):c.1795-20C>A
|
rs750994596
|
|
|
NM_032043.3(BRIP1):c.1795-20C>T
|
|
|
|
NM_032043.3(BRIP1):c.1795-2del
|
|
|
|
NM_032043.3(BRIP1):c.1795-4T>C
|
|
|
|
NM_032043.3(BRIP1):c.1795-5T>C
|
|
|
|
NM_032043.3(BRIP1):c.1795-7C>A
|
|
|
|
NM_032043.3(BRIP1):c.1795-8T>A
|
rs1012425653
|
|
|
NM_032043.3(BRIP1):c.1795G>A (p.Ala599Thr)
|
|
|
|
NM_032043.3(BRIP1):c.1795G>T (p.Ala599Ser)
|
rs2145081985
|
|
|
NM_032043.3(BRIP1):c.1796C>T (p.Ala599Val)
|
|
|
|
NM_032043.3(BRIP1):c.1797C>T (p.Ala599=)
|
rs771672834
|
|
|
NM_032043.3(BRIP1):c.1799T>A (p.Phe600Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.17C>T (p.Ser6Phe)
|
rs1603368484
|
|
|
NM_032043.3(BRIP1):c.1801del (p.Ser601fs)
|
rs2145081748
|
|
|
NM_032043.3(BRIP1):c.1802C>A (p.Ser601Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1803A>C (p.Ser601=)
|
|
|
|
NM_032043.3(BRIP1):c.1803A>G (p.Ser601=)
|
|
|
|
NM_032043.3(BRIP1):c.1803del (p.Asp602fs)
|
|
|
|
NM_032043.3(BRIP1):c.1805A>G (p.Asp602Gly)
|
rs1555602221
|
|
|
NM_032043.3(BRIP1):c.1806T>C (p.Asp602=)
|
rs878855142
|
|
|
NM_032043.3(BRIP1):c.1808T>A (p.Ile603Asn)
|
rs1555602215
|
|
|
NM_032043.3(BRIP1):c.1808T>C (p.Ile603Thr)
|
rs1555602215
|
|
|
NM_032043.3(BRIP1):c.1809T>C (p.Ile603=)
|
rs370393808
|
|
|
NM_032043.3(BRIP1):c.180T>A (p.Ala60=)
|
rs2078949295
|
|
|
NM_032043.3(BRIP1):c.180_181insGTTACAAAACAAAGCATGGCAACAATCTC (p.Leu61fs)
|
rs2145850255
|
|
|
NM_032043.3(BRIP1):c.180_190del (p.Leu61fs)
|
|
|
|
NM_032043.3(BRIP1):c.1814G>A (p.Gly605Asp)
|
rs2145081033
|
|
|
NM_032043.3(BRIP1):c.1816A>C (p.Lys606Gln)
|
rs1386348664
|
|
|
NM_032043.3(BRIP1):c.1819G>T (p.Val607Phe)
|
|
|
|
NM_032043.3(BRIP1):c.181T>G (p.Leu61Val)
|
|
|
|
NM_032043.3(BRIP1):c.1824G>A (p.Gln608=)
|
|
|
|
NM_032043.3(BRIP1):c.1824G>C (p.Gln608His)
|
rs1567812636
|
|
|
NM_032043.3(BRIP1):c.1825A>G (p.Thr609Ala)
|
rs189758577
|
|
|
NM_032043.3(BRIP1):c.1826C>G (p.Thr609Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1826C>T (p.Thr609Ile)
|
|
|
|
NM_032043.3(BRIP1):c.1827C>G (p.Thr609=)
|
rs2145080349
|
|
|
NM_032043.3(BRIP1):c.1828A>G (p.Ile610Val)
|
|
|
|
NM_032043.3(BRIP1):c.1829T>C (p.Ile610Thr)
|
|
|
|
NM_032043.3(BRIP1):c.182T>C (p.Leu61Ser)
|
rs1567876917
|
|
|
NM_032043.3(BRIP1):c.182T>G (p.Leu61Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1830T>A (p.Ile610=)
|
|
|
|
NM_032043.3(BRIP1):c.1831del (p.Val611fs)
|
rs1567812616
|
|
|
NM_032043.3(BRIP1):c.1835T>C (p.Leu612Ser)
|
rs2077597358
|
|
|
NM_032043.3(BRIP1):c.1836G>A (p.Leu612=)
|
rs1464898721
|
|
|
NM_032043.3(BRIP1):c.1836G>T (p.Leu612Phe)
|
rs1464898721
|
|
|
NM_032043.3(BRIP1):c.1838C>T (p.Thr613Ile)
|
rs864622345
|
|
|
NM_032043.3(BRIP1):c.1839A>G (p.Thr613=)
|
rs1603333264
|
|
|
NM_032043.3(BRIP1):c.183A>G (p.Leu61=)
|
rs1555618384
|
|
|
NM_032043.3(BRIP1):c.1840T>A (p.Ser614Thr)
|
rs2145079541
|
|
|
NM_032043.3(BRIP1):c.1841C>T (p.Ser614Phe)
|
|
|
|
NM_032043.3(BRIP1):c.1842T>C (p.Ser614=)
|
|
|
|
NM_032043.3(BRIP1):c.1843G>A (p.Gly615Ser)
|
rs1555602203
|
|
|
NM_032043.3(BRIP1):c.1844G>A (p.Gly615Asp)
|
|
|
|
NM_032043.3(BRIP1):c.1844G>T (p.Gly615Val)
|
rs2077597056
|
|
|
NM_032043.3(BRIP1):c.1846A>G (p.Thr616Ala)
|
rs1397233707
|
|
|
NM_032043.3(BRIP1):c.1848A>G (p.Thr616=)
|
rs1603333238
|
|
|
NM_032043.3(BRIP1):c.184G>A (p.Ala62Thr)
|
rs786202861
|
|
|
NM_032043.3(BRIP1):c.184G>T (p.Ala62Ser)
|
rs786202861
|
|
|
NM_032043.3(BRIP1):c.1850T>A (p.Leu617Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1850T>C (p.Leu617Ser)
|
rs1064794095
|
|
|
NM_032043.3(BRIP1):c.1850del (p.Leu617fs)
|
|
|
|
NM_032043.3(BRIP1):c.1851A>G (p.Leu617=)
|
|
|
|
NM_032043.3(BRIP1):c.1852T>A (p.Ser618Thr)
|
rs876660191
|
|
|
NM_032043.3(BRIP1):c.1852T>C (p.Ser618Pro)
|
rs876660191
|
|
|
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)
|
rs587781985
|
|
|
NM_032043.3(BRIP1):c.1855C>G (p.Pro619Ala)
|
rs2077596661
|
|
|
NM_032043.3(BRIP1):c.1855C>T (p.Pro619Ser)
|
rs2077596661
|
|
|
NM_032043.3(BRIP1):c.1857A>C (p.Pro619=)
|
rs1603333212
|
|
|
NM_032043.3(BRIP1):c.1858A>G (p.Met620Val)
|
rs876658346
|
|
|
NM_032043.3(BRIP1):c.1859T>A (p.Met620Lys)
|
rs1555602185
|
|
|
NM_032043.3(BRIP1):c.1859T>C (p.Met620Thr)
|
rs1555602185
|
|
|
NM_032043.3(BRIP1):c.185C>T (p.Ala62Val)
|
rs2078949086
|
|
|
NM_032043.3(BRIP1):c.1861A>G (p.Lys621Glu)
|
|
|
|
NM_032043.3(BRIP1):c.1864T>C (p.Ser622Pro)
|
rs2077596367
|
|
|
NM_032043.3(BRIP1):c.1865C>T (p.Ser622Phe)
|
rs2077596312
|
|
|
NM_032043.3(BRIP1):c.1867T>A (p.Phe623Ile)
|
rs864622438
|
|
|
NM_032043.3(BRIP1):c.1867T>C (p.Phe623Leu)
|
rs864622438
|
|
|
NM_032043.3(BRIP1):c.1868T>G (p.Phe623Cys)
|
rs2145077916
|
|
|
NM_032043.3(BRIP1):c.186A>G (p.Ala62=)
|
rs764252214
|
|
|
NM_032043.3(BRIP1):c.186A>T (p.Ala62=)
|
|
|
|
NM_032043.3(BRIP1):c.1870del (p.Ser624fs)
|
|
|
|
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu)
|
rs587781321
|
|
|
NM_032043.3(BRIP1):c.1872G>C (p.Ser624=)
|
|
|
|
NM_032043.3(BRIP1):c.1874C>T (p.Ser625Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1877A>T (p.Glu626Val)
|
rs2145077565
|
|
|
NM_032043.3(BRIP1):c.1878A>C (p.Glu626Asp)
|
rs1567812484
|
|
|
NM_032043.3(BRIP1):c.1878A>G (p.Glu626=)
|
|
|
|
NM_032043.3(BRIP1):c.1878A>T (p.Glu626Asp)
|
rs1567812484
|
|
|
NM_032043.3(BRIP1):c.1879C>T (p.Leu627Phe)
|
rs2077595930
|
|
|
NM_032043.3(BRIP1):c.187T>A (p.Trp63Arg)
|
rs1603367652
|
|
|
NM_032043.3(BRIP1):c.1880T>A (p.Leu627His)
|
rs1567812479
|
|
|
NM_032043.3(BRIP1):c.1880T>G (p.Leu627Arg)
|
rs1567812479
|
|
|
NM_032043.3(BRIP1):c.1882G>A (p.Gly628Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1883G>A (p.Gly628Asp)
|
rs1064794907
|
|
|
NM_032043.3(BRIP1):c.1883G>T (p.Gly628Val)
|
rs1064794907
|
|
|
NM_032043.3(BRIP1):c.1884T>C (p.Gly628=)
|
|
|
|
NM_032043.3(BRIP1):c.1888A>G (p.Thr630Ala)
|
rs2077595608
|
|
|
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs)
|
rs763818712
|
|
|
NM_032043.3(BRIP1):c.1889C>A (p.Thr630Lys)
|
rs780407946
|
|
|
NM_032043.3(BRIP1):c.1889del (p.Thr630fs)
|
rs1064793626
|
|
|
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter)
|
rs1603367649
|
|
|
NM_032043.3(BRIP1):c.1890A>C (p.Thr630=)
|
rs145796331
|
|
|
NM_032043.3(BRIP1):c.1892_1893del (p.Phe631fs)
|
|
|
|
NM_032043.3(BRIP1):c.1894A>G (p.Thr632Ala)
|
rs1555602149
|
|
|
NM_032043.3(BRIP1):c.1894A>T (p.Thr632Ser)
|
rs1555602149
|
|
|
NM_032043.3(BRIP1):c.1895C>G (p.Thr632Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1896T>C (p.Thr632=)
|
rs2077595308
|
|
|
NM_032043.3(BRIP1):c.1897A>C (p.Ile633Leu)
|
rs765314472
|
|
|
NM_032043.3(BRIP1):c.1898T>A (p.Ile633Asn)
|
rs587780232
|
|
|
NM_032043.3(BRIP1):c.1898T>C (p.Ile633Thr)
|
rs587780232
|
|
|
NM_032043.3(BRIP1):c.189G>A (p.Trp63Ter)
|
rs1603367647
|
|
|
NM_032043.3(BRIP1):c.1900C>T (p.Gln634Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1901A>G (p.Gln634Arg)
|
rs2145076105
|
|
|
NM_032043.3(BRIP1):c.1902G>C (p.Gln634His)
|
rs1060501748
|
|
|
NM_032043.3(BRIP1):c.1903C>T (p.Leu635=)
|
rs754280136
|
|
|
NM_032043.3(BRIP1):c.1904T>C (p.Leu635Pro)
|
rs2145075890
|
|
|
NM_032043.3(BRIP1):c.1906G>A (p.Glu636Lys)
|
rs1060501769
|
|
|
NM_032043.3(BRIP1):c.1908G>A (p.Glu636=)
|
rs1555602134
|
|
|
NM_032043.3(BRIP1):c.1909G>C (p.Ala637Pro)
|
rs541203428
|
|
|
NM_032043.3(BRIP1):c.190C>T (p.Gln64Ter)
|
rs2145849937
|
|
|
NM_032043.3(BRIP1):c.1911T>C (p.Ala637=)
|
rs1603333046
|
|
|
NM_032043.3(BRIP1):c.1911dup (p.Asn638Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1912A>G (p.Asn638Asp)
|
rs2077594670
|
|
|
NM_032043.3(BRIP1):c.1914T>C (p.Asn638=)
|
rs764456240
|
|
|
NM_032043.3(BRIP1):c.1915C>A (p.His639Asn)
|
rs2145075261
|
|
|
NM_032043.3(BRIP1):c.1916A>G (p.His639Arg)
|
rs1603333030
|
|
|
NM_032043.3(BRIP1):c.1917T>C (p.His639=)
|
rs763534423
|
|
|
NM_032043.3(BRIP1):c.1918A>G (p.Ile640Val)
|
rs2145075101
|
|
|
NM_032043.3(BRIP1):c.1918_1919del (p.Ile640fs)
|
rs1555602127
|
|
|
NM_032043.3(BRIP1):c.1920C>A (p.Ile640=)
|
rs2145074950
|
|
|
NM_032043.3(BRIP1):c.1921A>T (p.Ile641Phe)
|
rs1603333007
|
|
|
NM_032043.3(BRIP1):c.1926A>G (p.Lys642=)
|
rs2145074724
|
|
|
NM_032043.3(BRIP1):c.1927A>C (p.Asn643His)
|
rs2145074666
|
|
|
NM_032043.3(BRIP1):c.1928del (p.Asn643fs)
|
|
|
|
NM_032043.3(BRIP1):c.192A>G (p.Gln64=)
|
rs2145849875
|
|
|
NM_032043.3(BRIP1):c.1930T>A (p.Ser644Thr)
|
rs2077594282
|
|
|
NM_032043.3(BRIP1):c.1931C>A (p.Ser644Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1932A>T (p.Ser644=)
|
rs1603332998
|
|
|
NM_032043.3(BRIP1):c.1933C>G (p.Gln645Glu)
|
rs2145074343
|
|
|
NM_032043.3(BRIP1):c.1934A>G (p.Gln645Arg)
|
rs876660648
|
|
|
NM_032043.3(BRIP1):c.1935+11G>T
|
rs79121306
|
|
|
NM_032043.3(BRIP1):c.1935+11_1935+12del
|
|
|
|
NM_032043.3(BRIP1):c.1935+11del
|
|
|
|
NM_032043.3(BRIP1):c.1935+13T>G
|
rs1555602100
|
|
|
NM_032043.3(BRIP1):c.1935+14T>C
|
|
|
|
NM_032043.3(BRIP1):c.1935+16T>C
|
rs2145073369
|
|
|
NM_032043.3(BRIP1):c.1935+17T>C
|
|
|
|
NM_032043.3(BRIP1):c.1935+17T>G
|
rs1268001607
|
|
|
NM_032043.3(BRIP1):c.1935+1G>A
|
|
|
|
NM_032043.3(BRIP1):c.1935+1del
|
rs2077594062
|
|
|
NM_032043.3(BRIP1):c.1935+4A>T
|
rs1603332968
|
|
|
NM_032043.3(BRIP1):c.1935+4_1935+7del
|
rs766199221
|
|
|
NM_032043.3(BRIP1):c.1935+5GTT[2]
|
rs730881641
|
|
|
NM_032043.3(BRIP1):c.1935+6T>C
|
rs1555602118
|
|
|
NM_032043.3(BRIP1):c.1935+7T>A
|
|
|
|
NM_032043.3(BRIP1):c.1935+8G>C
|
|
|
|
NM_032043.3(BRIP1):c.1935+8G>T
|
rs767048212
|
|
|
NM_032043.3(BRIP1):c.1935G>A (p.Gln645=)
|
rs1254051324
|
|
|
NM_032043.3(BRIP1):c.1936-12T>C
|
|
|
|
NM_032043.3(BRIP1):c.1936-12T>G
|
|
|
|
NM_032043.3(BRIP1):c.1936-12_1936-10del
|
rs2145034941
|
|
|
NM_032043.3(BRIP1):c.1936-13A>T
|
|
|
|
NM_032043.3(BRIP1):c.1936-14T>C
|
|
|
|
NM_032043.3(BRIP1):c.1936-15A>C
|
|
|
|
NM_032043.3(BRIP1):c.1936-18G>A
|
rs2145035153
|
|
|
NM_032043.3(BRIP1):c.1936-19T>C
|
|
|
|
NM_032043.3(BRIP1):c.1936-1G>A
|
rs1555601204
|
|
|
NM_032043.3(BRIP1):c.1936-1G>C
|
rs1555601204
|
|
|
NM_032043.3(BRIP1):c.1936-28_1936-20dup
|
rs2145035178
|
|
|
NM_032043.3(BRIP1):c.1936-2A>C
|
rs878855143
|
|
|
NM_032043.3(BRIP1):c.1936-2A>G
|
rs878855143
|
|
|
NM_032043.3(BRIP1):c.1936-4C>G
|
rs587780552
|
|
|
NM_032043.3(BRIP1):c.1936-5T>A
|
rs769767296
|
|
|
NM_032043.3(BRIP1):c.1936-5_1936-4delinsGT
|
rs587781481
|
|
|
NM_032043.3(BRIP1):c.1936-7A>G
|
rs1427111542
|
|
|
NM_032043.3(BRIP1):c.1936-8T>C
|
|
|
|
NM_032043.3(BRIP1):c.1936del
|
rs1567809140
|
|
|
NM_032043.3(BRIP1):c.1939T>G (p.Trp647Gly)
|
|
|
|
NM_032043.3(BRIP1):c.193C>A (p.Gln65Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)
|
rs786202760
|
|
|
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)
|
rs786202760
|
|
|
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys)
|
rs786202760
|
|
|
NM_032043.3(BRIP1):c.1943T>G (p.Val648Gly)
|
rs2077537998
|
|
|
NM_032043.3(BRIP1):c.1946G>A (p.Gly649Asp)
|
rs746066323
|
|
|
NM_032043.3(BRIP1):c.1946G>C (p.Gly649Ala)
|
rs746066323
|
|
|
NM_032043.3(BRIP1):c.1948_1957del (p.Thr650fs)
|
rs2077537479
|
|
|
NM_032043.3(BRIP1):c.1949C>T (p.Thr650Ile)
|
rs2077537888
|
|
|
NM_032043.3(BRIP1):c.194A>C (p.Gln65Pro)
|
rs1555618377
|
|
|
NM_032043.3(BRIP1):c.194_199del (p.Gln65_Ser66del)
|
rs2078948660
|
|
|
NM_032043.3(BRIP1):c.1950C>T (p.Thr650=)
|
rs1603328999
|
|
|
NM_032043.3(BRIP1):c.1951A>G (p.Ile651Val)
|
rs778867622
|
|
|
NM_032043.3(BRIP1):c.1953T>C (p.Ile651=)
|
rs754400631
|
|
|
NM_032043.3(BRIP1):c.1956G>A (p.Gly652=)
|
rs778250103
|
|
|
NM_032043.3(BRIP1):c.1956G>T (p.Gly652=)
|
rs778250103
|
|
|
NM_032043.3(BRIP1):c.1958C>T (p.Ser653Leu)
|
rs756511744
|
|
|
NM_032043.3(BRIP1):c.1959_1960dup (p.Gly654fs)
|
rs2145033356
|
|
|
NM_032043.3(BRIP1):c.195A>C (p.Gln65His)
|
rs141436143
|
|
|
NM_032043.3(BRIP1):c.1960G>A (p.Gly654Ser)
|
rs1567809053
|
|
|
NM_032043.3(BRIP1):c.1961delinsAATGGTTTGGTACCATTGGGTCAGAATTGGGTCCGA (p.Gly654fs)
|
|
|
|
NM_032043.3(BRIP1):c.1962C>A (p.Gly654=)
|
rs786201877
|
|
|
NM_032043.3(BRIP1):c.1962C>G (p.Gly654=)
|
rs786201877
|
|
|
NM_032043.3(BRIP1):c.1962C>T (p.Gly654=)
|
rs786201877
|
|
|
NM_032043.3(BRIP1):c.1963C>T (p.Pro655Ser)
|
rs753036322
|
|
|
NM_032043.3(BRIP1):c.1964C>G (p.Pro655Arg)
|
rs767872111
|
|
|
NM_032043.3(BRIP1):c.1964C>T (p.Pro655Leu)
|
|
|
|
NM_032043.3(BRIP1):c.1965C>G (p.Pro655=)
|
|
|
|
NM_032043.3(BRIP1):c.1966A>T (p.Lys656Ter)
|
|
|
|
NM_032043.3(BRIP1):c.1967A>G (p.Lys656Arg)
|
rs1322017079
|
|
|
NM_032043.3(BRIP1):c.1967dup (p.Arg658fs)
|
rs2077537050
|
|
|
NM_032043.3(BRIP1):c.1968G>A (p.Lys656=)
|
|
|
|
NM_032043.3(BRIP1):c.1968G>T (p.Lys656Asn)
|
rs1064793415
|
|
|
NM_032043.3(BRIP1):c.1969G>A (p.Gly657Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1969G>T (p.Gly657Cys)
|
|
|
|
NM_032043.3(BRIP1):c.1970G>A (p.Gly657Asp)
|
rs1603328878
|
|
|
NM_032043.3(BRIP1):c.1970G>T (p.Gly657Val)
|
rs1603328878
|
|
|
NM_032043.3(BRIP1):c.1970del (p.Gly657fs)
|
rs760782298
|
|
|
NM_032043.3(BRIP1):c.1971T>G (p.Gly657=)
|
rs1555601157
|
|
|
NM_032043.3(BRIP1):c.1972C>A (p.Arg658=)
|
rs786203170
|
|
|
NM_032043.3(BRIP1):c.1972C>G (p.Arg658Gly)
|
rs786203170
|
|
|
NM_032043.3(BRIP1):c.1973G>A (p.Arg658Gln)
|
rs759142191
|
|
|
NM_032043.3(BRIP1):c.1974G>T (p.Arg658=)
|
rs876658617
|
|
|
NM_032043.3(BRIP1):c.1974dup (p.Asn659fs)
|
rs2145032405
|
|
|
NM_032043.3(BRIP1):c.1976A>G (p.Asn659Ser)
|
rs1213142447
|
|
|
NM_032043.3(BRIP1):c.1978C>T (p.Leu660Phe)
|
rs1060501746
|
|
|
NM_032043.3(BRIP1):c.197C>T (p.Ser66Phe)
|
rs2078948703
|
|
|
NM_032043.3(BRIP1):c.1982G>A (p.Cys661Tyr)
|
rs1160736353
|
|
|
NM_032043.3(BRIP1):c.1982G>T (p.Cys661Phe)
|
rs1160736353
|
|
|
NM_032043.3(BRIP1):c.1983T>C (p.Cys661=)
|
rs1603328829
|
|
|
NM_032043.3(BRIP1):c.1986T>C (p.Ala662=)
|
|
|
|
NM_032043.3(BRIP1):c.1987A>G (p.Thr663Ala)
|
rs1567808933
|
|
|
NM_032043.3(BRIP1):c.1987A>T (p.Thr663Ser)
|
|
|
|
NM_032043.3(BRIP1):c.1989C>G (p.Thr663=)
|
rs376628979
|
|
|
NM_032043.3(BRIP1):c.1992C>T (p.Phe664=)
|
|
|
|
NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter)
|
rs1603328780
|
|
|
NM_032043.3(BRIP1):c.1994A>T (p.Gln665Leu)
|
rs2145031487
|
|
|
NM_032043.3(BRIP1):c.1996A>C (p.Asn666His)
|
rs765816425
|
|
|
NM_032043.3(BRIP1):c.1996A>G (p.Asn666Asp)
|
rs765816425
|
|
|
NM_032043.3(BRIP1):c.1998T>C (p.Asn666=)
|
rs876659106
|
|
|
NM_032043.3(BRIP1):c.199C>G (p.Leu67Val)
|
|
|
|
NM_032043.3(BRIP1):c.199C>T (p.Leu67Phe)
|
|
|
|
NM_032043.3(BRIP1):c.19G>A (p.Glu7Lys)
|
rs1246321339
|
|
|
NM_032043.3(BRIP1):c.1A>T (p.Met1Leu)
|
rs764585550
|
|
|
NM_032043.3(BRIP1):c.1_2del (p.Met1fs)
|
rs876661246
|
|
|
NM_032043.3(BRIP1):c.2001T>G (p.Thr667=)
|
|
|
|
NM_032043.3(BRIP1):c.2002G>T (p.Glu668Ter)
|
rs2145031089
|
|
|
NM_032043.3(BRIP1):c.2004A>G (p.Glu668=)
|
|
|
|
NM_032043.3(BRIP1):c.2007A>G (p.Thr669=)
|
|
|
|
NM_032043.3(BRIP1):c.2009T>C (p.Phe670Ser)
|
rs1555601107
|
|
|
NM_032043.3(BRIP1):c.200_201dup (p.Ser68fs)
|
rs1555618374
|
|
|
NM_032043.3(BRIP1):c.2010T>C (p.Phe670=)
|
rs762535496
|
|
|
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)
|
rs775537066
|
|
|
NM_032043.3(BRIP1):c.2012A>G (p.Glu671Gly)
|
rs587778135
|
|
|
NM_032043.3(BRIP1):c.2012_2013insAAAT (p.Phe672fs)
|
rs2145030551
|
|
|
NM_032043.3(BRIP1):c.2015delinsCC (p.Phe672fs)
|
rs1555601094
|
|
|
NM_032043.3(BRIP1):c.2016C>T (p.Phe672=)
|
|
|
|
NM_032043.3(BRIP1):c.2017C>T (p.Gln673Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2018A>G (p.Gln673Arg)
|
rs786203619
|
|
|
NM_032043.3(BRIP1):c.2019A>G (p.Gln673=)
|
rs1008150951
|
|
|
NM_032043.3(BRIP1):c.201T>C (p.Leu67=)
|
rs763819127
|
|
|
NM_032043.3(BRIP1):c.2020G>A (p.Asp674Asn)
|
rs1567808842
|
|
|
NM_032043.3(BRIP1):c.2021A>G (p.Asp674Gly)
|
rs1555601087
|
|
|
NM_032043.3(BRIP1):c.2022T>G (p.Asp674Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2023dup (p.Glu675fs)
|
rs2145029870
|
|
|
NM_032043.3(BRIP1):c.2024A>C (p.Glu675Ala)
|
rs1555601081
|
|
|
NM_032043.3(BRIP1):c.2026G>A (p.Val676Met)
|
rs2077535030
|
|
|
NM_032043.3(BRIP1):c.2028G>A (p.Val676=)
|
rs786202395
|
|
|
NM_032043.3(BRIP1):c.2028G>C (p.Val676=)
|
rs786202395
|
|
|
NM_032043.3(BRIP1):c.2029G>A (p.Gly677Arg)
|
rs1555601069
|
|
|
NM_032043.3(BRIP1):c.2029_2049del (p.Gly677_Val683del)
|
rs2077534052
|
|
|
NM_032043.3(BRIP1):c.202A>G (p.Ser68Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2030G>A (p.Gly677Glu)
|
rs1567808797
|
|
|
NM_032043.3(BRIP1):c.2030del (p.Gly677fs)
|
rs1555601064
|
|
|
NM_032043.3(BRIP1):c.2031A>G (p.Gly677=)
|
|
|
|
NM_032043.3(BRIP1):c.2032G>A (p.Ala678Thr)
|
rs2077534711
|
|
|
NM_032043.3(BRIP1):c.2033C>T (p.Ala678Val)
|
rs1211313166
|
|
|
NM_032043.3(BRIP1):c.2035C>T (p.Leu679Phe)
|
rs1555601056
|
|
|
NM_032043.3(BRIP1):c.2038_2039del (p.Leu680fs)
|
rs587778134
|
|
|
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)
|
rs587778134
|
|
|
NM_032043.3(BRIP1):c.2038_2042del (p.Leu680fs)
|
rs1400202829
|
|
|
NM_032043.3(BRIP1):c.2039T>C (p.Leu680Ser)
|
rs2077534379
|
|
|
NM_032043.3(BRIP1):c.2040G>A (p.Leu680=)
|
rs2145028811
|
|
|
NM_032043.3(BRIP1):c.2040_2044del (p.Leu680fs)
|
rs2077534283
|
|
|
NM_032043.3(BRIP1):c.2044T>C (p.Ser682Pro)
|
rs2077534218
|
|
|
NM_032043.3(BRIP1):c.2045_2046del (p.Ser682fs)
|
|
|
|
NM_032043.3(BRIP1):c.2046T>C (p.Ser682=)
|
rs2145028480
|
|
|
NM_032043.3(BRIP1):c.2049G>A (p.Val683=)
|
rs1228288888
|
|
|
NM_032043.3(BRIP1):c.204T>C (p.Ser68=)
|
rs2078948550
|
|
|
NM_032043.3(BRIP1):c.204_205+1delinsAGT
|
|
|
|
NM_032043.3(BRIP1):c.205+10_205+11del
|
|
|
|
NM_032043.3(BRIP1):c.205+10del
|
rs2078948200
|
|
|
NM_032043.3(BRIP1):c.205+13T>G
|
|
|
|
NM_032043.3(BRIP1):c.205+17T>G
|
|
|
|
NM_032043.3(BRIP1):c.205+18A>G
|
rs1555618353
|
|
|
NM_032043.3(BRIP1):c.205+1G>C
|
|
|
|
NM_032043.3(BRIP1):c.205+1del
|
rs1057517648
|
|
|
NM_032043.3(BRIP1):c.205+20C>A
|
|
|
|
NM_032043.3(BRIP1):c.205+2T>C
|
rs1060501763
|
|
|
NM_032043.3(BRIP1):c.205+2T>G
|
rs1060501763
|
|
|
NM_032043.3(BRIP1):c.205+4A>G
|
rs1060501753
|
|
|
NM_032043.3(BRIP1):c.205+4A>T
|
|
|
|
NM_032043.3(BRIP1):c.205+5G>A
|
rs2078948368
|
|
|
NM_032043.3(BRIP1):c.205+5G>T
|
rs2078948368
|
|
|
NM_032043.3(BRIP1):c.205+6T>A
|
rs1555618360
|
|
|
NM_032043.3(BRIP1):c.205+6T>C
|
rs1555618360
|
|
|
NM_032043.3(BRIP1):c.205+6_205+7insTATCTTGA
|
rs2078948236
|
|
|
NM_032043.3(BRIP1):c.205+7A>C
|
|
|
|
NM_032043.3(BRIP1):c.205+8G>A
|
rs2145849179
|
|
|
NM_032043.3(BRIP1):c.2050T>G (p.Cys684Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2051G>T (p.Cys684Phe)
|
rs2145028133
|
|
|
NM_032043.3(BRIP1):c.2053del (p.Gln685fs)
|
rs2145028011
|
|
|
NM_032043.3(BRIP1):c.2054A>T (p.Gln685Leu)
|
rs2077533936
|
|
|
NM_032043.3(BRIP1):c.2055G>C (p.Gln685His)
|
rs1603328545
|
|
|
NM_032043.3(BRIP1):c.2055_2066del (p.Thr686_Gln689del)
|
rs2145027145
|
|
|
NM_032043.3(BRIP1):c.2058T>A (p.Thr686=)
|
|
|
|
NM_032043.3(BRIP1):c.2058T>C (p.Thr686=)
|
rs1603328526
|
|
|
NM_032043.3(BRIP1):c.2058dup (p.Val687fs)
|
|
|
|
NM_032043.3(BRIP1):c.2059G>A (p.Val687Met)
|
rs876659296
|
|
|
NM_032043.3(BRIP1):c.2059del (p.Thr686_Val687insTer)
|
rs2145027657
|
|
|
NM_032043.3(BRIP1):c.205G>T (p.Gly69Trp)
|
rs372581879
|
|
|
NM_032043.3(BRIP1):c.206-10T>A
|
|
|
|
NM_032043.3(BRIP1):c.206-14T>A
|
rs914741353
|
|
|
NM_032043.3(BRIP1):c.206-14T>C
|
rs914741353
|
|
|
NM_032043.3(BRIP1):c.206-15_206-14insTATTATAAATAGAC
|
|
|
|
NM_032043.3(BRIP1):c.206-16G>A
|
|
|
|
NM_032043.3(BRIP1):c.206-17T>C
|
rs1567875100
|
|
|
NM_032043.3(BRIP1):c.206-18A>G
|
rs1555617946
|
|
|
NM_032043.3(BRIP1):c.206-18A>T
|
|
|
|
NM_032043.3(BRIP1):c.206-1G>T
|
rs1555617934
|
|
|
NM_032043.3(BRIP1):c.206-6T>A
|
rs1555617938
|
|
|
NM_032043.3(BRIP1):c.206-8A>C
|
|
|
|
NM_032043.3(BRIP1):c.206-8A>G
|
rs2145831898
|
|
|
NM_032043.3(BRIP1):c.206-9C>A
|
rs1193647766
|
|
|
NM_032043.3(BRIP1):c.206-9C>T
|
|
|
|
NM_032043.3(BRIP1):c.2060T>C (p.Val687Ala)
|
rs1555601030
|
|
|
NM_032043.3(BRIP1):c.2060_2061del (p.Val687fs)
|
|
|
|
NM_032043.3(BRIP1):c.2061G>A (p.Val687=)
|
rs112414873
|
|
|
NM_032043.3(BRIP1):c.2063G>A (p.Ser688Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2066A>G (p.Gln689Arg)
|
rs2145027105
|
|
|
NM_032043.3(BRIP1):c.2068G>A (p.Gly690Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2069G>C (p.Gly690Ala)
|
|
|
|
NM_032043.3(BRIP1):c.2071A>G (p.Ile691Val)
|
rs587782356
|
|
|
NM_032043.3(BRIP1):c.2073T>G (p.Ile691Met)
|
|
|
|
NM_032043.3(BRIP1):c.2075del (p.Leu692fs)
|
|
|
|
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs)
|
rs1603328466
|
|
|
NM_032043.3(BRIP1):c.2079T>C (p.Cys693=)
|
rs2145026472
|
|
|
NM_032043.3(BRIP1):c.207G>A (p.Gly69=)
|
rs2078911284
|
|
|
NM_032043.3(BRIP1):c.2082del (p.Leu695fs)
|
|
|
|
NM_032043.3(BRIP1):c.2085G>A (p.Leu695=)
|
rs1555601008
|
|
|
NM_032043.3(BRIP1):c.2085G>T (p.Leu695Phe)
|
rs1555601008
|
|
|
NM_032043.3(BRIP1):c.2085del (p.Leu695fs)
|
|
|
|
NM_032043.3(BRIP1):c.2085dup (p.Pro696fs)
|
rs1060501772
|
|
|
NM_032043.3(BRIP1):c.2088A>G (p.Pro696=)
|
|
|
|
NM_032043.3(BRIP1):c.2089T>C (p.Ser697Pro)
|
rs1603328426
|
|
|
NM_032043.3(BRIP1):c.208A>C (p.Lys70Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2091T>C (p.Ser697=)
|
rs2077532892
|
|
|
NM_032043.3(BRIP1):c.2094C>G (p.Tyr698Ter)
|
rs1603328406
|
|
|
NM_032043.3(BRIP1):c.2094C>T (p.Tyr698=)
|
rs1603328406
|
|
|
NM_032043.3(BRIP1):c.2097+10T>C
|
rs2145024802
|
|
|
NM_032043.3(BRIP1):c.2097+13T>A
|
|
|
|
NM_032043.3(BRIP1):c.2097+14T>C
|
rs2145024654
|
|
|
NM_032043.3(BRIP1):c.2097+14T>G
|
|
|
|
NM_032043.3(BRIP1):c.2097+14del
|
|
|
|
NM_032043.3(BRIP1):c.2097+15A>T
|
|
|
|
NM_032043.3(BRIP1):c.2097+15_2097+17del
|
|
|
|
NM_032043.3(BRIP1):c.2097+17T>C
|
|
|
|
NM_032043.3(BRIP1):c.2097+17T>G
|
rs779183944
|
|
|
NM_032043.3(BRIP1):c.2097+18G>T
|
rs2077532129
|
|
|
NM_032043.3(BRIP1):c.2097+1G>C
|
rs786202941
|
|
|
NM_032043.3(BRIP1):c.2097+1G>T
|
rs786202941
|
|
|
NM_032043.3(BRIP1):c.2097+2T>A
|
rs2077532634
|
|
|
NM_032043.3(BRIP1):c.2097+5G>A
|
rs1567808616
|
|
|
NM_032043.3(BRIP1):c.2097+5G>T
|
|
|
|
NM_032043.3(BRIP1):c.2097+6G>A
|
rs1603328382
|
|
|
NM_032043.3(BRIP1):c.2097+7G>C
|
rs4988352
|
|
|
NM_032043.3(BRIP1):c.2097+7del
|
|
|
|
NM_032043.3(BRIP1):c.2097+8A>G
|
rs730881642
|
|
|
NM_032043.3(BRIP1):c.2097+9A>G
|
|
|
|
NM_032043.3(BRIP1):c.2097G>A (p.Lys699=)
|
rs1060501754
|
|
|
NM_032043.3(BRIP1):c.2098-10C>A
|
rs864622767
|
|
|
NM_032043.3(BRIP1):c.2098-10C>T
|
rs864622767
|
|
|
NM_032043.3(BRIP1):c.2098-11C>A
|
|
|
|
NM_032043.3(BRIP1):c.2098-11C>T
|
|
|
|
NM_032043.3(BRIP1):c.2098-12T>C
|
|
|
|
NM_032043.3(BRIP1):c.2098-12dup
|
|
|
|
NM_032043.3(BRIP1):c.2098-13T>G
|
rs2077035315
|
|
|
NM_032043.3(BRIP1):c.2098-14T>C
|
|
|
|
NM_032043.3(BRIP1):c.2098-15del
|
|
|
|
NM_032043.3(BRIP1):c.2098-16T>C
|
rs2144702212
|
|
|
NM_032043.3(BRIP1):c.2098-16del
|
rs1064793669
|
|
|
NM_032043.3(BRIP1):c.2098-17T>A
|
rs1555591574
|
|
|
NM_032043.3(BRIP1):c.2098-17T>C
|
rs1555591574
|
|
|
NM_032043.3(BRIP1):c.2098-18T>C
|
|
|
|
NM_032043.3(BRIP1):c.2098-22dup
|
rs1064793669
|
|
|
NM_032043.3(BRIP1):c.2098-3del
|
rs1603304671
|
|
|
NM_032043.3(BRIP1):c.2098-6C>T
|
rs2144701935
|
|
|
NM_032043.3(BRIP1):c.2098-8C>T
|
rs917048033
|
|
|
NM_032043.3(BRIP1):c.2098-9C>T
|
rs2077035155
|
|
|
NM_032043.3(BRIP1):c.2098T>C (p.Leu700=)
|
rs2077034962
|
|
|
NM_032043.3(BRIP1):c.2099T>A (p.Leu700Ter)
|
|
|
|
NM_032043.3(BRIP1):c.209A>C (p.Lys70Thr)
|
rs957072709
|
|
|
NM_032043.3(BRIP1):c.209A>G (p.Lys70Arg)
|
rs957072709
|
|
|
NM_032043.3(BRIP1):c.2101T>C (p.Leu701=)
|
|
|
|
NM_032043.3(BRIP1):c.2102T>A (p.Leu701Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2102T>C (p.Leu701Ser)
|
rs876658270
|
|
|
NM_032043.3(BRIP1):c.2102T>G (p.Leu701Ter)
|
rs876658270
|
|
|
NM_032043.3(BRIP1):c.2103A>G (p.Leu701=)
|
|
|
|
NM_032043.3(BRIP1):c.2103del (p.Glu702fs)
|
rs2144701568
|
|
|
NM_032043.3(BRIP1):c.2105A>G (p.Glu702Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2107A>G (p.Lys703Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2108A>G (p.Lys703Arg)
|
rs756412722
|
|
|
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs)
|
rs786203384
|
|
|
NM_032043.3(BRIP1):c.2109A>G (p.Lys703=)
|
rs2077034490
|
|
|
NM_032043.3(BRIP1):c.2109del (p.Lys703fs)
|
rs2144701307
|
|
|
NM_032043.3(BRIP1):c.2109dup (p.Leu704fs)
|
|
|
|
NM_032043.3(BRIP1):c.210A>G (p.Lys70=)
|
|
|
|
NM_032043.3(BRIP1):c.210del (p.Lys70fs)
|
rs1555617925
|
|
|
NM_032043.3(BRIP1):c.2110T>C (p.Leu704=)
|
|
|
|
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter)
|
rs1057517643
|
|
|
NM_032043.3(BRIP1):c.2111T>G (p.Leu704Ter)
|
rs1057517643
|
|
|
NM_032043.3(BRIP1):c.2114_2115dup (p.Glu706fs)
|
|
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
|
NM_032043.3(BRIP1):c.2119C>A (p.Arg707Ser)
|
rs764803896
|
|
|
NM_032043.3(BRIP1):c.2119C>G (p.Arg707Gly)
|
rs764803896
|
|
|
NM_032043.3(BRIP1):c.211C>A (p.Pro71Thr)
|
|
|
|
NM_032043.3(BRIP1):c.211C>T (p.Pro71Ser)
|
rs876659680
|
|
|
NM_032043.3(BRIP1):c.2120G>A (p.Arg707His)
|
rs200313471
|
|
|
NM_032043.3(BRIP1):c.2120G>T (p.Arg707Leu)
|
rs200313471
|
|
|
NM_032043.3(BRIP1):c.2120del (p.Arg707fs)
|
|
|
|
NM_032043.3(BRIP1):c.2121T>A (p.Arg707=)
|
|
|
|
NM_032043.3(BRIP1):c.2121T>G (p.Arg707=)
|
rs1481107855
|
|
|
NM_032043.3(BRIP1):c.2123G>A (p.Trp708Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2124G>A (p.Trp708Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2125C>G (p.Leu709Val)
|
rs2077033994
|
|
|
NM_032043.3(BRIP1):c.2126T>C (p.Leu709Pro)
|
rs1567781600
|
|
|
NM_032043.3(BRIP1):c.2127C>G (p.Leu709=)
|
rs1060504325
|
|
|
NM_032043.3(BRIP1):c.2127C>T (p.Leu709=)
|
rs1060504325
|
|
|
NM_032043.3(BRIP1):c.2128T>G (p.Ser710Ala)
|
rs1555591505
|
|
|
NM_032043.3(BRIP1):c.2130T>C (p.Ser710=)
|
rs1555591497
|
|
|
NM_032043.3(BRIP1):c.2130T>G (p.Ser710=)
|
|
|
|
NM_032043.3(BRIP1):c.2131A>C (p.Thr711Pro)
|
rs760515227
|
|
|
NM_032043.3(BRIP1):c.2131A>G (p.Thr711Ala)
|
rs760515227
|
|
|
NM_032043.3(BRIP1):c.2132C>T (p.Thr711Ile)
|
|
|
|
NM_032043.3(BRIP1):c.2133del (p.Gly712fs)
|
rs1567781543
|
|
|
NM_032043.3(BRIP1):c.2134G>A (p.Gly712Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2135G>A (p.Gly712Asp)
|
rs1060501755
|
|
|
NM_032043.3(BRIP1):c.2135G>C (p.Gly712Ala)
|
rs1060501755
|
|
|
NM_032043.3(BRIP1):c.2135G>T (p.Gly712Val)
|
rs1060501755
|
|
|
NM_032043.3(BRIP1):c.2138T>G (p.Leu713Ter)
|
rs878855145
|
|
|
NM_032043.3(BRIP1):c.2139_2257+80del
|
|
|
|
NM_032043.3(BRIP1):c.213A>G (p.Pro71=)
|
rs1471650548
|
|
|
NM_032043.3(BRIP1):c.2140T>C (p.Trp714Arg)
|
rs1603304614
|
|
|
NM_032043.3(BRIP1):c.2142G>A (p.Trp714Ter)
|
rs1567781516
|
|
|
NM_032043.3(BRIP1):c.2143C>G (p.His715Asp)
|
rs2077033211
|
|
|
NM_032043.3(BRIP1):c.2143C>T (p.His715Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2143_2163delinsTTCT (p.His715fs)
|
|
|
|
NM_032043.3(BRIP1):c.2144A>G (p.His715Arg)
|
rs1253181575
|
|
|
NM_032043.3(BRIP1):c.2145T>C (p.His715=)
|
|
|
|
NM_032043.3(BRIP1):c.2146A>G (p.Asn716Asp)
|
rs1060501745
|
|
|
NM_032043.3(BRIP1):c.2148T>C (p.Asn716=)
|
rs2077033063
|
|
|
NM_032043.3(BRIP1):c.2149C>T (p.Leu717=)
|
rs1555591473
|
|
|
NM_032043.3(BRIP1):c.214G>A (p.Ala72Thr)
|
rs1357919929
|
|
|
NM_032043.3(BRIP1):c.2150T>C (p.Leu717Pro)
|
rs2077032975
|
|
|
NM_032043.3(BRIP1):c.2151G>A (p.Leu717=)
|
rs2077032938
|
|
|
NM_032043.3(BRIP1):c.2154G>A (p.Glu718=)
|
rs1057523978
|
|
|
NM_032043.3(BRIP1):c.2154G>C (p.Glu718Asp)
|
|
|
|
NM_032043.3(BRIP1):c.2156del (p.Leu719fs)
|
|
|
|
NM_032043.3(BRIP1):c.2157G>A (p.Leu719=)
|
|
|
|
NM_032043.3(BRIP1):c.2157G>T (p.Leu719Phe)
|
rs2144699040
|
|
|
NM_032043.3(BRIP1):c.2158G>A (p.Val720Met)
|
rs1555591459
|
|
|
NM_032043.3(BRIP1):c.2158G>T (p.Val720Leu)
|
rs1555591459
|
|
|
NM_032043.3(BRIP1):c.2158_2160del (p.Val720del)
|
rs878855146
|
|
|
NM_032043.3(BRIP1):c.215C>A (p.Ala72Glu)
|
rs2078910927
|
|
|
NM_032043.3(BRIP1):c.2160G>A (p.Val720=)
|
rs1603304594
|
|
|
NM_032043.3(BRIP1):c.2163G>A (p.Lys721=)
|
|
|
|
NM_032043.3(BRIP1):c.2165C>T (p.Thr722Ile)
|
rs1603304593
|
|
|
NM_032043.3(BRIP1):c.2166A>G (p.Thr722=)
|
rs2144698611
|
|
|
NM_032043.3(BRIP1):c.2166del (p.Val723fs)
|
|
|
|
NM_032043.3(BRIP1):c.2166dup (p.Val723fs)
|
|
|
|
NM_032043.3(BRIP1):c.2169C>T (p.Val723=)
|
rs749460936
|
|
|
NM_032043.3(BRIP1):c.2169del (p.Ile724fs)
|
|
|
|
NM_032043.3(BRIP1):c.216A>G (p.Ala72=)
|
|
|
|
NM_032043.3(BRIP1):c.2170A>C (p.Ile724Leu)
|
rs2077032430
|
|
|
NM_032043.3(BRIP1):c.2170A>G (p.Ile724Val)
|
|
|
|
NM_032043.3(BRIP1):c.2171T>C (p.Ile724Thr)
|
rs1312043643
|
|
|
NM_032043.3(BRIP1):c.2172T>G (p.Ile724Met)
|
rs777860588
|
|
|
NM_032043.3(BRIP1):c.2173G>A (p.Val725Ile)
|
rs1236873736
|
|
|
NM_032043.3(BRIP1):c.2174T>A (p.Val725Glu)
|
rs2144698131
|
|
|
NM_032043.3(BRIP1):c.2175A>G (p.Val725=)
|
|
|
|
NM_032043.3(BRIP1):c.2177A>G (p.Glu726Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2178A>C (p.Glu726Asp)
|
rs1555591425
|
|
|
NM_032043.3(BRIP1):c.2178A>G (p.Glu726=)
|
|
|
|
NM_032043.3(BRIP1):c.2180C>A (p.Pro727Gln)
|
rs876659309
|
|
|
NM_032043.3(BRIP1):c.2180C>T (p.Pro727Leu)
|
rs876659309
|
|
|
NM_032043.3(BRIP1):c.2181A>G (p.Pro727=)
|
rs1603304559
|
|
|
NM_032043.3(BRIP1):c.2182C>G (p.Gln728Glu)
|
rs1296238058
|
|
|
NM_032043.3(BRIP1):c.2182C>T (p.Gln728Ter)
|
rs1296238058
|
|
|
NM_032043.3(BRIP1):c.2183A>T (p.Gln728Leu)
|
rs2144697784
|
|
|
NM_032043.3(BRIP1):c.2184G>A (p.Gln728=)
|
|
|
|
NM_032043.3(BRIP1):c.2184G>C (p.Gln728His)
|
rs2077031766
|
|
|
NM_032043.3(BRIP1):c.2185G>A (p.Gly729Arg)
|
rs1555591407
|
|
|
NM_032043.3(BRIP1):c.2186G>A (p.Gly729Glu)
|
rs1404094308
|
|
|
NM_032043.3(BRIP1):c.2187del (p.Gly730fs)
|
|
|
|
NM_032043.3(BRIP1):c.2191G>A (p.Glu731Lys)
|
rs1603304544
|
|
|
NM_032043.3(BRIP1):c.2194A>G (p.Lys732Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2194A>T (p.Lys732Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2196_2197dup (p.Thr733fs)
|
rs2144697372
|
|
|
NM_032043.3(BRIP1):c.2197del (p.Thr733fs)
|
rs2144697372
|
|
|
NM_032043.3(BRIP1):c.2198C>T (p.Thr733Ile)
|
rs2077031435
|
|
|
NM_032043.3(BRIP1):c.219T>C (p.Asp73=)
|
rs1603366434
|
|
|
NM_032043.3(BRIP1):c.2200A>C (p.Asn734His)
|
rs2144697244
|
|
|
NM_032043.3(BRIP1):c.2201A>G (p.Asn734Ser)
|
rs2144697198
|
|
|
NM_032043.3(BRIP1):c.2205T>G (p.Phe735Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2205dup (p.Asp736Ter)
|
rs1555591385
|
|
|
NM_032043.3(BRIP1):c.2206G>A (p.Asp736Asn)
|
rs2144697004
|
|
|
NM_032043.3(BRIP1):c.2208T>G (p.Asp736Glu)
|
rs2077031257
|
|
|
NM_032043.3(BRIP1):c.220G>C (p.Glu74Gln)
|
rs2145831329
|
|
|
NM_032043.3(BRIP1):c.2211A>G (p.Glu737=)
|
rs1603304536
|
|
|
NM_032043.3(BRIP1):c.2212T>C (p.Leu738=)
|
rs1567781239
|
|
|
NM_032043.3(BRIP1):c.2214A>G (p.Leu738=)
|
|
|
|
NM_032043.3(BRIP1):c.2215C>T (p.Leu739=)
|
rs1555591374
|
|
|
NM_032043.3(BRIP1):c.2216T>C (p.Leu739Pro)
|
rs587780234
|
|
|
NM_032043.3(BRIP1):c.2216T>G (p.Leu739Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2218C>G (p.Gln740Glu)
|
rs1555591361
|
|
|
NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter)
|
rs1555591361
|
|
|
NM_032043.3(BRIP1):c.2218del (p.Gln740fs)
|
rs1555591365
|
|
|
NM_032043.3(BRIP1):c.2219A>G (p.Gln740Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2220G>A (p.Gln740=)
|
|
|
|
NM_032043.3(BRIP1):c.2221G>A (p.Val741Met)
|
rs1308293137
|
|
|
NM_032043.3(BRIP1):c.2221G>C (p.Val741Leu)
|
rs1308293137
|
|
|
NM_032043.3(BRIP1):c.2221dup (p.Val741fs)
|
rs1567781169
|
|
|
NM_032043.3(BRIP1):c.2222T>C (p.Val741Ala)
|
rs1555591357
|
|
|
NM_032043.3(BRIP1):c.2223G>A (p.Val741=)
|
rs1057522996
|
|
|
NM_032043.3(BRIP1):c.2223G>T (p.Val741=)
|
rs1057522996
|
|
|
NM_032043.3(BRIP1):c.2223_2225dup (p.Tyr742Ter)
|
rs1310861578
|
|
|
NM_032043.3(BRIP1):c.2225A>C (p.Tyr742Ser)
|
rs1555591351
|
|
|
NM_032043.3(BRIP1):c.2226C>G (p.Tyr742Ter)
|
rs2144696024
|
|
|
NM_032043.3(BRIP1):c.2227T>G (p.Tyr743Asp)
|
rs2144695971
|
|
|
NM_032043.3(BRIP1):c.2228A>C (p.Tyr743Ser)
|
rs750033391
|
|
|
NM_032043.3(BRIP1):c.2228A>G (p.Tyr743Cys)
|
|
|
|
NM_032043.3(BRIP1):c.2229T>G (p.Tyr743Ter)
|
rs2077030288
|
|
|
NM_032043.3(BRIP1):c.222G>A (p.Glu74=)
|
rs1603366432
|
|
|
NM_032043.3(BRIP1):c.222G>C (p.Glu74Asp)
|
|
|
|
NM_032043.3(BRIP1):c.2230G>C (p.Asp744His)
|
rs2144695830
|
|
|
NM_032043.3(BRIP1):c.2232C>G (p.Asp744Glu)
|
rs374362388
|
|
|
NM_032043.3(BRIP1):c.2233G>T (p.Ala745Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2234C>T (p.Ala745Val)
|
rs2144695654
|
|
|
NM_032043.3(BRIP1):c.2234dup (p.Ile746fs)
|
|
|
|
NM_032043.3(BRIP1):c.2235A>C (p.Ala745=)
|
|
|
|
NM_032043.3(BRIP1):c.2236_2238delinsGTT (p.Ile746Val)
|
|
|
|
NM_032043.3(BRIP1):c.2237_2240del (p.Ile746fs)
|
rs587782726
|
|
|
NM_032043.3(BRIP1):c.2238C>A (p.Ile746=)
|
rs876660416
|
|
|
NM_032043.3(BRIP1):c.2238C>T (p.Ile746=)
|
rs876660416
|
|
|
NM_032043.3(BRIP1):c.223G>T (p.Gly75Cys)
|
rs1317680188
|
|
|
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)
|
rs1257401983
|
|
|
NM_032043.3(BRIP1):c.2247A>G (p.Lys749=)
|
rs587782556
|
|
|
NM_032043.3(BRIP1):c.2247del (p.Gly750fs)
|
|
|
|
NM_032043.3(BRIP1):c.2248G>A (p.Gly750Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2249G>A (p.Gly750Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2249G>T (p.Gly750Val)
|
rs764061653
|
|
|
NM_032043.3(BRIP1):c.2250A>C (p.Gly750=)
|
rs1195197229
|
|
|
NM_032043.3(BRIP1):c.2251G>C (p.Glu751Gln)
|
rs760438320
|
|
|
NM_032043.3(BRIP1):c.2251_2254del (p.Glu751fs)
|
rs1555591308
|
|
|
NM_032043.3(BRIP1):c.2252_2255delAGAA (p.Lys752fs)
|
|
|
|
NM_032043.3(BRIP1):c.2253_2254del (p.Lys752fs)
|
rs1555591308
|
|
|
NM_032043.3(BRIP1):c.2254A>C (p.Lys752Gln)
|
rs876659651
|
|
|
NM_032043.3(BRIP1):c.2255A>G (p.Lys752Arg)
|
rs876660016
|
|
|
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)
|
rs730881649
|
|
|
NM_032043.3(BRIP1):c.2256A>G (p.Lys752=)
|
|
|
|
NM_032043.3(BRIP1):c.2257+10A>C
|
|
|
|
NM_032043.3(BRIP1):c.2257+11A>G
|
rs1213506782
|
|
|
NM_032043.3(BRIP1):c.2257+11del
|
rs2144694434
|
|
|
NM_032043.3(BRIP1):c.2257+12_2257+17del
|
|
|
|
NM_032043.3(BRIP1):c.2257+13T>C
|
|
|
|
NM_032043.3(BRIP1):c.2257+15T>C
|
rs775380026
|
|
|
NM_032043.3(BRIP1):c.2257+19A>G
|
rs77851913
|
|
|
NM_032043.3(BRIP1):c.2257+19A>T
|
rs77851913
|
|
|
NM_032043.3(BRIP1):c.2257+1G>A
|
rs2077029293
|
|
|
NM_032043.3(BRIP1):c.2257+20T>C
|
|
|
|
NM_032043.3(BRIP1):c.2257+2T>G
|
|
|
|
NM_032043.3(BRIP1):c.2257+3A>G
|
rs2144694655
|
|
|
NM_032043.3(BRIP1):c.2257+7G>A
|
rs2144694497
|
|
|
NM_032043.3(BRIP1):c.2257+8G>T
|
rs2077029126
|
|
|
NM_032043.3(BRIP1):c.2257G>C (p.Asp753His)
|
rs1603304458
|
|
|
NM_032043.3(BRIP1):c.2258-10G>A
|
rs1250252907
|
|
|
NM_032043.3(BRIP1):c.2258-12C>G
|
rs2144680873
|
|
|
NM_032043.3(BRIP1):c.2258-12C>T
|
|
|
|
NM_032043.3(BRIP1):c.2258-13T>C
|
rs1567779896
|
|
|
NM_032043.3(BRIP1):c.2258-13dup
|
rs2144680932
|
|
|
NM_032043.3(BRIP1):c.2258-19C>T
|
rs1057524575
|
|
|
NM_032043.3(BRIP1):c.2258-19del
|
rs2144681146
|
|
|
NM_032043.3(BRIP1):c.2258-1G>A
|
rs1064793887
|
|
|
NM_032043.3(BRIP1):c.2258-1G>C
|
|
|
|
NM_032043.3(BRIP1):c.2258-1G>T
|
rs1064793887
|
|
|
NM_032043.3(BRIP1):c.2258-20G>A
|
rs1555590610
|
|
|
NM_032043.3(BRIP1):c.2258-20G>C
|
|
|
|
NM_032043.3(BRIP1):c.2258-2A>C
|
|
|
|
NM_032043.3(BRIP1):c.2258-2A>T
|
|
|
|
NM_032043.3(BRIP1):c.2258-2dup
|
rs2144680473
|
|
|
NM_032043.3(BRIP1):c.2258-3A>C
|
rs786203561
|
|
|
NM_032043.3(BRIP1):c.2258-3A>G
|
rs786203561
|
|
|
NM_032043.3(BRIP1):c.2258-47_2258-20del
|
|
|
|
NM_032043.3(BRIP1):c.2258-5T>G
|
rs1555590588
|
|
|
NM_032043.3(BRIP1):c.2258-6T>C
|
rs2077009706
|
|
|
NM_032043.3(BRIP1):c.2258-6dup
|
rs1254598966
|
|
|
NM_032043.3(BRIP1):c.2258-7G>A
|
rs1060501777
|
|
|
NM_032043.3(BRIP1):c.2258-7_2258-4del
|
rs1064795010
|
|
|
NM_032043.3(BRIP1):c.2258-7_2258-5del
|
|
|
|
NM_032043.3(BRIP1):c.2258-9_2258-8dup
|
|
|
|
NM_032043.3(BRIP1):c.2259T>A (p.Asp753Glu)
|
rs2077009355
|
|
|
NM_032043.3(BRIP1):c.2259T>C (p.Asp753=)
|
|
|
|
NM_032043.3(BRIP1):c.2262A>C (p.Gly754=)
|
rs1060504324
|
|
|
NM_032043.3(BRIP1):c.2262A>T (p.Gly754=)
|
rs1060504324
|
|
|
NM_032043.3(BRIP1):c.2263G>A (p.Ala755Thr)
|
|
|
|
NM_032043.3(BRIP1):c.2264C>G (p.Ala755Gly)
|
rs1555590565
|
|
|
NM_032043.3(BRIP1):c.2264C>T (p.Ala755Val)
|
rs1555590565
|
|
|
NM_032043.3(BRIP1):c.2265T>C (p.Ala755=)
|
|
|
|
NM_032043.3(BRIP1):c.2265T>G (p.Ala755=)
|
|
|
|
NM_032043.3(BRIP1):c.2268C>T (p.Leu756=)
|
rs864622332
|
|
|
NM_032043.3(BRIP1):c.2269C>T (p.Leu757=)
|
|
|
|
NM_032043.3(BRIP1):c.226G>T (p.Val76Leu)
|
rs769573395
|
|
|
NM_032043.3(BRIP1):c.2271G>C (p.Leu757=)
|
|
|
|
NM_032043.3(BRIP1):c.2272G>A (p.Val758Ile)
|
rs1192826909
|
|
|
NM_032043.3(BRIP1):c.2272G>T (p.Val758Leu)
|
rs1192826909
|
|
|
NM_032043.3(BRIP1):c.2274A>G (p.Val758=)
|
rs786201526
|
|
|
NM_032043.3(BRIP1):c.2276C>G (p.Ala759Gly)
|
rs2144679532
|
|
|
NM_032043.3(BRIP1):c.227dup (p.Ser77fs)
|
|
|
|
NM_032043.3(BRIP1):c.2280T>C (p.Val760=)
|
|
|
|
NM_032043.3(BRIP1):c.2281del (p.Cys761fs)
|
rs1555590521
|
|
|
NM_032043.3(BRIP1):c.2282G>A (p.Cys761Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2282G>C (p.Cys761Ser)
|
rs1567779745
|
|
|
NM_032043.3(BRIP1):c.2284_2285delinsTA (p.Arg762Tyr)
|
rs1555590511
|
|
|
NM_032043.3(BRIP1):c.2285G>T (p.Arg762Leu)
|
rs200960251
|
|
|
NM_032043.3(BRIP1):c.228A>G (p.Val76=)
|
rs2078910583
|
|
|
NM_032043.3(BRIP1):c.2290A>G (p.Lys764Glu)
|
rs1603303860
|
|
|
NM_032043.3(BRIP1):c.2292A>G (p.Lys764=)
|
rs2144678763
|
|
|
NM_032043.3(BRIP1):c.2296A>G (p.Ser766Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2297G>A (p.Ser766Asn)
|
rs2144678538
|
|
|
NM_032043.3(BRIP1):c.2298T>C (p.Ser766=)
|
rs1603303851
|
|
|
NM_032043.3(BRIP1):c.2298_2301del (p.Ser766fs)
|
rs2144678308
|
|
|
NM_032043.3(BRIP1):c.2301G>C (p.Glu767Asp)
|
rs369434185
|
|
|
NM_032043.3(BRIP1):c.2302G>A (p.Gly768Ser)
|
rs2077008054
|
|
|
NM_032043.3(BRIP1):c.2303G>T (p.Gly768Val)
|
rs1603303846
|
|
|
NM_032043.3(BRIP1):c.2303_2308del (p.Gly768_Leu769del)
|
|
|
|
NM_032043.3(BRIP1):c.2307G>A (p.Leu769=)
|
rs1555590464
|
|
|
NM_032043.3(BRIP1):c.2307G>C (p.Leu769=)
|
|
|
|
NM_032043.3(BRIP1):c.2308G>A (p.Asp770Asn)
|
rs2077007860
|
|
|
NM_032043.3(BRIP1):c.2308G>T (p.Asp770Tyr)
|
rs2077007860
|
|
|
NM_032043.3(BRIP1):c.2309A>G (p.Asp770Gly)
|
rs1555590457
|
|
|
NM_032043.3(BRIP1):c.2311T>C (p.Phe771Leu)
|
rs2144677768
|
|
|
NM_032043.3(BRIP1):c.2313C>G (p.Phe771Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2313C>T (p.Phe771=)
|
|
|
|
NM_032043.3(BRIP1):c.2313_2319del (p.Phe771fs)
|
rs758128094
|
|
|
NM_032043.3(BRIP1):c.2315C>A (p.Ser772Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2315C>T (p.Ser772Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2317G>A (p.Asp773Asn)
|
rs146091205
|
|
|
NM_032043.3(BRIP1):c.2319T>C (p.Asp773=)
|
rs1555590447
|
|
|
NM_032043.3(BRIP1):c.231T>C (p.Ser77=)
|
|
|
|
NM_032043.3(BRIP1):c.2321A>G (p.Asp774Gly)
|
rs992780498
|
|
|
NM_032043.3(BRIP1):c.2321A>T (p.Asp774Val)
|
|
|
|
NM_032043.3(BRIP1):c.2322C>A (p.Asp774Glu)
|
rs1057520434
|
|
|
NM_032043.3(BRIP1):c.2322C>T (p.Asp774=)
|
rs1057520434
|
|
|
NM_032043.3(BRIP1):c.2325T>G (p.Asn775Lys)
|
rs375146450
|
|
|
NM_032043.3(BRIP1):c.2326G>A (p.Ala776Thr)
|
rs2077007192
|
|
|
NM_032043.3(BRIP1):c.2327C>A (p.Ala776Asp)
|
rs1555590421
|
|
|
NM_032043.3(BRIP1):c.2328C>T (p.Ala776=)
|
rs786203725
|
|
|
NM_032043.3(BRIP1):c.2329C>G (p.Arg777Gly)
|
rs768555161
|
|
|
NM_032043.3(BRIP1):c.2329C>T (p.Arg777Cys)
|
rs768555161
|
|
|
NM_032043.3(BRIP1):c.2329dup (p.Arg777fs)
|
|
|
|
NM_032043.3(BRIP1):c.232G>A (p.Glu78Lys)
|
rs2145830931
|
|
|
NM_032043.3(BRIP1):c.2330G>C (p.Arg777Pro)
|
rs747568830
|
|
|
NM_032043.3(BRIP1):c.2332G>A (p.Ala778Thr)
|
rs2144676807
|
|
|
NM_032043.3(BRIP1):c.2332G>T (p.Ala778Ser)
|
rs2144676807
|
|
|
NM_032043.3(BRIP1):c.2333C>T (p.Ala778Val)
|
rs2077006983
|
|
|
NM_032043.3(BRIP1):c.2334_2337dup (p.Ile780fs)
|
|
|
|
NM_032043.3(BRIP1):c.2335G>A (p.Val779Ile)
|
rs1603303802
|
|
|
NM_032043.3(BRIP1):c.2335G>C (p.Val779Leu)
|
rs1603303802
|
|
|
NM_032043.3(BRIP1):c.2335G>T (p.Val779Phe)
|
rs1603303802
|
|
|
NM_032043.3(BRIP1):c.2336T>A (p.Val779Asp)
|
rs1567779485
|
|
|
NM_032043.3(BRIP1):c.2337C>T (p.Val779=)
|
|
|
|
NM_032043.3(BRIP1):c.2338A>G (p.Ile780Val)
|
rs776131401
|
|
|
NM_032043.3(BRIP1):c.2339T>A (p.Ile780Lys)
|
rs1467232177
|
|
|
NM_032043.3(BRIP1):c.2339T>C (p.Ile780Thr)
|
rs1467232177
|
|
|
NM_032043.3(BRIP1):c.2339T>G (p.Ile780Arg)
|
rs1467232177
|
|
|
NM_032043.3(BRIP1):c.2339_2340del (p.Ile780fs)
|
|
|
|
NM_032043.3(BRIP1):c.2341del (p.Thr781fs)
|
|
|
|
NM_032043.3(BRIP1):c.2341dup (p.Thr781fs)
|
rs1555590388
|
|
|
NM_032043.3(BRIP1):c.2343A>G (p.Thr781=)
|
rs772636536
|
|
|
NM_032043.3(BRIP1):c.2343A>T (p.Thr781=)
|
rs772636536
|
|
|
NM_032043.3(BRIP1):c.2345T>A (p.Ile782Lys)
|
|
|
|
NM_032043.3(BRIP1):c.2348G>A (p.Gly783Glu)
|
rs2077006387
|
|
|
NM_032043.3(BRIP1):c.2349A>T (p.Gly783=)
|
rs863224799
|
|
|
NM_032043.3(BRIP1):c.2350A>G (p.Ile784Val)
|
rs1603303771
|
|
|
NM_032043.3(BRIP1):c.2350del (p.Ile784fs)
|
|
|
|
NM_032043.3(BRIP1):c.2352T>A (p.Ile784=)
|
rs2077006255
|
|
|
NM_032043.3(BRIP1):c.2352T>C (p.Ile784=)
|
|
|
|
NM_032043.3(BRIP1):c.2354C>T (p.Pro785Leu)
|
rs2144675861
|
|
|
NM_032043.3(BRIP1):c.2356T>C (p.Phe786Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2358T>C (p.Phe786=)
|
|
|
|
NM_032043.3(BRIP1):c.2360C>G (p.Pro787Arg)
|
rs1555590356
|
|
|
NM_032043.3(BRIP1):c.2361A>C (p.Pro787=)
|
|
|
|
NM_032043.3(BRIP1):c.2361A>G (p.Pro787=)
|
|
|
|
NM_032043.3(BRIP1):c.2364T>C (p.Asn788=)
|
rs587783045
|
|
|
NM_032043.3(BRIP1):c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA (p.Val789fs)
|
|
|
|
NM_032043.3(BRIP1):c.2365G>T (p.Val789Leu)
|
rs876661097
|
|
|
NM_032043.3(BRIP1):c.2366T>C (p.Val789Ala)
|
rs1060501728
|
|
|
NM_032043.3(BRIP1):c.236A>C (p.Lys79Thr)
|
rs2145830866
|
|
|
NM_032043.3(BRIP1):c.2370_2379+20del
|
rs2144674380
|
|
|
NM_032043.3(BRIP1):c.2372A>G (p.Asp791Gly)
|
rs876658934
|
|
|
NM_032043.3(BRIP1):c.2372A>T (p.Asp791Val)
|
rs876658934
|
|
|
NM_032043.3(BRIP1):c.2373T>A (p.Asp791Glu)
|
rs876659615
|
|
|
NM_032043.3(BRIP1):c.2373T>C (p.Asp791=)
|
rs876659615
|
|
|
NM_032043.3(BRIP1):c.2374C>A (p.Leu792Ile)
|
rs2144675104
|
|
|
NM_032043.3(BRIP1):c.2375T>A (p.Leu792Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2376A>G (p.Leu792=)
|
rs554514054
|
|
|
NM_032043.3(BRIP1):c.2379+13A>C
|
|
|
|
NM_032043.3(BRIP1):c.2379+14A>T
|
rs2144674551
|
|
|
NM_032043.3(BRIP1):c.2379+17T>G
|
rs2144674490
|
|
|
NM_032043.3(BRIP1):c.2379+18T>C
|
|
|
|
NM_032043.3(BRIP1):c.2379+1G>T
|
rs1555590286
|
|
|
NM_032043.3(BRIP1):c.2379+2T>A
|
|
|
|
NM_032043.3(BRIP1):c.2379+4G>A
|
|
|
|
NM_032043.3(BRIP1):c.2379+7C>T
|
rs1057520464
|
|
|
NM_032043.3(BRIP1):c.2379+8A>G
|
rs1567779307
|
|
|
NM_032043.3(BRIP1):c.2379+9T>C
|
rs1555590278
|
|
|
NM_032043.3(BRIP1):c.237A>G (p.Lys79=)
|
|
|
|
NM_032043.3(BRIP1):c.237del (p.Ala80fs)
|
rs2145830843
|
|
|
NM_032043.3(BRIP1):c.2380-10A>G
|
rs2061858108
|
|
|
NM_032043.3(BRIP1):c.2380-11A>T
|
|
|
|
NM_032043.3(BRIP1):c.2380-11dup
|
rs2144384661
|
|
|
NM_032043.3(BRIP1):c.2380-14T>C
|
rs2144384810
|
|
|
NM_032043.3(BRIP1):c.2380-18A>C
|
|
|
|
NM_032043.3(BRIP1):c.2380-18dup
|
|
|
|
NM_032043.3(BRIP1):c.2380-1G>A
|
rs1567756032
|
|
|
NM_032043.3(BRIP1):c.2380-20A>G
|
rs977667900
|
|
|
NM_032043.3(BRIP1):c.2380-20A>T
|
|
|
|
NM_032043.3(BRIP1):c.2380-29A>G
|
|
|
|
NM_032043.3(BRIP1):c.2380-2A>C
|
rs2144384449
|
|
|
NM_032043.3(BRIP1):c.2380-45_2402delinsTTGACCATTTGAATGGT
|
rs2061856480
|
|
|
NM_032043.3(BRIP1):c.2380-4T>C
|
rs2144384520
|
|
|
NM_032043.3(BRIP1):c.2380-6T>C
|
|
|
|
NM_032043.3(BRIP1):c.2380-7T>G
|
rs2144384592
|
|
|
NM_032043.3(BRIP1):c.2380G>T (p.Val794Phe)
|
rs1261005517
|
|
|
NM_032043.3(BRIP1):c.2382T>C (p.Val794=)
|
rs560088455
|
|
|
NM_032043.3(BRIP1):c.2383G>A (p.Glu795Lys)
|
|
|
|
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter)
|
rs2144384208
|
|
|
NM_032043.3(BRIP1):c.2384A>G (p.Glu795Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2386C>G (p.Leu796Val)
|
|
|
|
NM_032043.3(BRIP1):c.2386C>T (p.Leu796=)
|
rs1057521362
|
|
|
NM_032043.3(BRIP1):c.2387T>C (p.Leu796Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2388A>G (p.Leu796=)
|
rs1057521977
|
|
|
NM_032043.3(BRIP1):c.2389A>T (p.Lys797Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2391dup (p.Arg798fs)
|
|
|
|
NM_032043.3(BRIP1):c.2393G>C (p.Arg798Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2394A>T (p.Arg798=)
|
rs540236878
|
|
|
NM_032043.3(BRIP1):c.2398T>C (p.Tyr800His)
|
rs1305107535
|
|
|
NM_032043.3(BRIP1):c.2399A>G (p.Tyr800Cys)
|
rs2061856846
|
|
|
NM_032043.3(BRIP1):c.23A>G (p.Tyr8Cys)
|
|
|
|
NM_032043.3(BRIP1):c.2400C>A (p.Tyr800Ter)
|
rs574552037
|
|
|
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)
|
rs574552037
|
|
|
NM_032043.3(BRIP1):c.2400C>T (p.Tyr800=)
|
rs574552037
|
|
|
NM_032043.3(BRIP1):c.2401A>G (p.Asn801Asp)
|
rs1408016407
|
|
|
NM_032043.3(BRIP1):c.2403T>C (p.Asn801=)
|
|
|
|
NM_032043.3(BRIP1):c.2404G>A (p.Asp802Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2405A>G (p.Asp802Gly)
|
rs876660273
|
|
|
NM_032043.3(BRIP1):c.2406C>A (p.Asp802Glu)
|
rs748981650
|
|
|
NM_032043.3(BRIP1):c.2407C>T (p.His803Tyr)
|
rs2061856155
|
|
|
NM_032043.3(BRIP1):c.2409C>T (p.His803=)
|
rs762039913
|
|
|
NM_032043.3(BRIP1):c.240T>G (p.Ala80=)
|
rs745422385
|
|
|
NM_032043.3(BRIP1):c.2410C>T (p.His804Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2411A>G (p.His804Arg)
|
rs777277034
|
|
|
NM_032043.3(BRIP1):c.2412T>C (p.His804=)
|
rs1555580913
|
|
|
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter)
|
rs2061855838
|
|
|
NM_032043.3(BRIP1):c.2415A>G (p.Ser805=)
|
rs769413097
|
|
|
NM_032043.3(BRIP1):c.2416A>G (p.Lys806Glu)
|
rs747622456
|
|
|
NM_032043.3(BRIP1):c.241del (p.Glu81fs)
|
rs1292988272
|
|
|
NM_032043.3(BRIP1):c.2422A>G (p.Arg808Gly)
|
rs587780237
|
|
|
NM_032043.3(BRIP1):c.2425G>A (p.Gly809Ser)
|
rs1555580892
|
|
|
NM_032043.3(BRIP1):c.2426G>A (p.Gly809Asp)
|
|
|
|
NM_032043.3(BRIP1):c.2426G>T (p.Gly809Val)
|
rs1555580886
|
|
|
NM_032043.3(BRIP1):c.2429T>C (p.Leu810Pro)
|
rs2061855206
|
|
|
NM_032043.3(BRIP1):c.2429T>G (p.Leu810Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2429_2432dup (p.Pro812fs)
|
|
|
|
NM_032043.3(BRIP1):c.2430T>C (p.Leu810=)
|
|
|
|
NM_032043.3(BRIP1):c.2431C>G (p.Leu811Val)
|
rs2144381821
|
|
|
NM_032043.3(BRIP1):c.2431C>T (p.Leu811=)
|
|
|
|
NM_032043.3(BRIP1):c.2431_2432delinsTTC (p.Leu811fs)
|
|
|
|
NM_032043.3(BRIP1):c.2433A>G (p.Leu811=)
|
rs751455420
|
|
|
NM_032043.3(BRIP1):c.2433A>T (p.Leu811=)
|
rs751455420
|
|
|
NM_032043.3(BRIP1):c.2434C>A (p.Pro812Thr)
|
rs779915262
|
|
|
NM_032043.3(BRIP1):c.2435C>A (p.Pro812His)
|
rs876659410
|
|
|
NM_032043.3(BRIP1):c.2435C>G (p.Pro812Arg)
|
rs876659410
|
|
|
NM_032043.3(BRIP1):c.2435C>T (p.Pro812Leu)
|
rs876659410
|
|
|
NM_032043.3(BRIP1):c.2436T>A (p.Pro812=)
|
rs2061854737
|
|
|
NM_032043.3(BRIP1):c.2436T>G (p.Pro812=)
|
|
|
|
NM_032043.3(BRIP1):c.2437G>C (p.Gly813Arg)
|
rs2144381512
|
|
|
NM_032043.3(BRIP1):c.2439C>T (p.Gly813=)
|
|
|
|
NM_032043.3(BRIP1):c.243A>C (p.Glu81Asp)
|
|
|
|
NM_032043.3(BRIP1):c.243A>G (p.Glu81=)
|
|
|
|
NM_032043.3(BRIP1):c.243del (p.Val82fs)
|
rs1064794890
|
|
|
NM_032043.3(BRIP1):c.2440C>A (p.Arg814Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2440C>G (p.Arg814Gly)
|
rs201869624
|
|
|
NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2444A>G (p.Gln815Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2445G>A (p.Gln815=)
|
rs764195906
|
|
|
NM_032043.3(BRIP1):c.2445_2446insGTCTTCTACC (p.Trp816fs)
|
rs2144381014
|
|
|
NM_032043.3(BRIP1):c.2446T>C (p.Trp816Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2446T>G (p.Trp816Gly)
|
rs1338241931
|
|
|
NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter)
|
rs786204250
|
|
|
NM_032043.3(BRIP1):c.2448G>A (p.Trp816Ter)
|
rs1064795352
|
|
|
NM_032043.3(BRIP1):c.2448G>T (p.Trp816Cys)
|
rs1064795352
|
|
|
NM_032043.3(BRIP1):c.2448del (p.Trp816fs)
|
|
|
|
NM_032043.3(BRIP1):c.2450A>G (p.Tyr817Cys)
|
rs1555580828
|
|
|
NM_032043.3(BRIP1):c.2452G>A (p.Glu818Lys)
|
rs1555580819
|
|
|
NM_032043.3(BRIP1):c.2452G>C (p.Glu818Gln)
|
rs1555580819
|
|
|
NM_032043.3(BRIP1):c.2454A>G (p.Glu818=)
|
|
|
|
NM_032043.3(BRIP1):c.2457T>C (p.Ile819=)
|
|
|
|
NM_032043.3(BRIP1):c.2458C>T (p.Gln820Ter)
|
rs2061854079
|
|
|
NM_032043.3(BRIP1):c.2459A>C (p.Gln820Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2459_2460insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCTCCCTCTGATGCCGAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTCA (p.Ala821fs)
|
rs2144380398
|
|
|
NM_032043.3(BRIP1):c.245T>A (p.Val82Glu)
|
rs876659594
|
|
|
NM_032043.3(BRIP1):c.245T>G (p.Val82Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2460A>G (p.Gln820=)
|
rs1555580812
|
|
|
NM_032043.3(BRIP1):c.2462C>T (p.Ala821Val)
|
rs876658697
|
|
|
NM_032043.3(BRIP1):c.2463A>G (p.Ala821=)
|
rs2144380143
|
|
|
NM_032043.3(BRIP1):c.2465A>G (p.Tyr822Cys)
|
rs587781572
|
|
|
NM_032043.3(BRIP1):c.2466C>T (p.Tyr822=)
|
rs2144379956
|
|
|
NM_032043.3(BRIP1):c.2466delinsACA (p.Tyr822Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2467del (p.Arg823fs)
|
|
|
|
NM_032043.3(BRIP1):c.2468G>A (p.Arg823Lys)
|
rs45479297
|
|
|
NM_032043.3(BRIP1):c.2468G>T (p.Arg823Met)
|
rs45479297
|
|
|
NM_032043.3(BRIP1):c.2469G>A (p.Arg823=)
|
rs587780239
|
|
|
NM_032043.3(BRIP1):c.246A>G (p.Val82=)
|
rs864622659
|
|
|
NM_032043.3(BRIP1):c.2470G>T (p.Ala824Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2472C>T (p.Ala824=)
|
rs767666616
|
|
|
NM_032043.3(BRIP1):c.2474_2485delinsG (p.Leu825fs)
|
|
|
|
NM_032043.3(BRIP1):c.2478C>G (p.Asn826Lys)
|
rs774939280
|
|
|
NM_032043.3(BRIP1):c.2479C>A (p.Gln827Lys)
|
rs786203898
|
|
|
NM_032043.3(BRIP1):c.2479C>G (p.Gln827Glu)
|
rs786203898
|
|
|
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)
|
rs786203898
|
|
|
NM_032043.3(BRIP1):c.247C>T (p.Gln83Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2481G>C (p.Gln827His)
|
rs2061853111
|
|
|
NM_032043.3(BRIP1):c.2483C>G (p.Ala828Gly)
|
rs2061853042
|
|
|
NM_032043.3(BRIP1):c.2484C>A (p.Ala828=)
|
|
|
|
NM_032043.3(BRIP1):c.2484C>G (p.Ala828=)
|
|
|
|
NM_032043.3(BRIP1):c.2484C>T (p.Ala828=)
|
rs1277187413
|
|
|
NM_032043.3(BRIP1):c.2487T>G (p.Leu829=)
|
|
|
|
NM_032043.3(BRIP1):c.2487del (p.Gly830fs)
|
|
|
|
NM_032043.3(BRIP1):c.2488G>A (p.Gly830Ser)
|
rs876659062
|
|
|
NM_032043.3(BRIP1):c.2490T>C (p.Gly830=)
|
|
|
|
NM_032043.3(BRIP1):c.2490dup (p.Arg831Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2491A>G (p.Arg831Gly)
|
rs2144378901
|
|
|
NM_032043.3(BRIP1):c.2491del (p.Arg831fs)
|
rs1555580769
|
|
|
NM_032043.3(BRIP1):c.2492+10G>A
|
|
|
|
NM_032043.3(BRIP1):c.2492+11T>A
|
|
|
|
NM_032043.3(BRIP1):c.2492+11T>G
|
rs2061852455
|
|
|
NM_032043.3(BRIP1):c.2492+12G>A
|
rs1424282420
|
|
|
NM_032043.3(BRIP1):c.2492+13A>T
|
|
|
|
NM_032043.3(BRIP1):c.2492+14A>G
|
|
|
|
NM_032043.3(BRIP1):c.2492+15A>G
|
|
|
|
NM_032043.3(BRIP1):c.2492+19A>G
|
|
|
|
NM_032043.3(BRIP1):c.2492+19A>T
|
rs983179829
|
|
|
NM_032043.3(BRIP1):c.2492+1G>C
|
rs1567755539
|
|
|
NM_032043.3(BRIP1):c.2492+1G>T
|
|
|
|
NM_032043.3(BRIP1):c.2492+1del
|
rs1603293314
|
|
|
NM_032043.3(BRIP1):c.2492+2T>C
|
|
|
|
NM_032043.3(BRIP1):c.2492+3A>C
|
rs1555580758
|
|
|
NM_032043.3(BRIP1):c.2492+3A>T
|
|
|
|
NM_032043.3(BRIP1):c.2492+5G>C
|
rs763222019
|
|
|
NM_032043.3(BRIP1):c.2492+7G>A
|
rs2144378579
|
|
|
NM_032043.3(BRIP1):c.2492+9A>C
|
|
|
|
NM_032043.3(BRIP1):c.2492+9A>G
|
|
|
|
NM_032043.3(BRIP1):c.2492G>A (p.Arg831Lys)
|
rs771382903
|
|
|
NM_032043.3(BRIP1):c.2492_2492+5del
|
rs1603293306
|
|
|
NM_032043.3(BRIP1):c.2493-10T>A
|
rs776255327
|
|
|
NM_032043.3(BRIP1):c.2493-10T>C
|
rs776255327
|
|
|
NM_032043.3(BRIP1):c.2493-10dup
|
rs1457869893
|
|
|
NM_032043.3(BRIP1):c.2493-13C>T
|
|
|
|
NM_032043.3(BRIP1):c.2493-14C>T
|
rs2061479652
|
|
|
NM_032043.3(BRIP1):c.2493-15C>T
|
rs1009398860
|
|
|
NM_032043.3(BRIP1):c.2493-16T>C
|
rs1555574835
|
|
|
NM_032043.3(BRIP1):c.2493-16T>G
|
rs1555574835
|
|
|
NM_032043.3(BRIP1):c.2493-17T>C
|
|
|
|
NM_032043.3(BRIP1):c.2493-17_2493-16del
|
|
|
|
NM_032043.3(BRIP1):c.2493-18T>C
|
|
|
|
NM_032043.3(BRIP1):c.2493-1G>A
|
rs786203451
|
|
|
NM_032043.3(BRIP1):c.2493-1G>C
|
rs786203451
|
|
|
NM_032043.3(BRIP1):c.2493-2A>G
|
rs1603280621
|
|
|
NM_032043.3(BRIP1):c.2493-3T>G
|
rs2061479378
|
|
|
NM_032043.3(BRIP1):c.2493-3_2493-1del
|
|
|
|
NM_032043.3(BRIP1):c.2493-4C>G
|
rs1057521675
|
|
|
NM_032043.3(BRIP1):c.2493-8T>C
|
rs2144188159
|
|
|
NM_032043.3(BRIP1):c.2493-9T>G
|
|
|
|
NM_032043.3(BRIP1):c.2494T>C (p.Cys832Arg)
|
rs768222842
|
|
|
NM_032043.3(BRIP1):c.2494T>G (p.Cys832Gly)
|
rs768222842
|
|
|
NM_032043.3(BRIP1):c.2495G>A (p.Cys832Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2495G>T (p.Cys832Phe)
|
|
|
|
NM_032043.3(BRIP1):c.2497A>G (p.Ile833Val)
|
rs199831248
|
|
|
NM_032043.3(BRIP1):c.2498T>C (p.Ile833Thr)
|
rs876660936
|
|
|
NM_032043.3(BRIP1):c.2500A>G (p.Arg834Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2501G>A (p.Arg834Lys)
|
|
|
|
NM_032043.3(BRIP1):c.2504A>G (p.His835Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2505C>G (p.His835Gln)
|
rs775547651
|
|
|
NM_032043.3(BRIP1):c.2507G>T (p.Arg836Ile)
|
rs1060501736
|
|
|
NM_032043.3(BRIP1):c.2507_2508del (p.Arg836fs)
|
rs2061478781
|
|
|
NM_032043.3(BRIP1):c.2508A>C (p.Arg836Ser)
|
rs2061478740
|
|
|
NM_032043.3(BRIP1):c.2510A>G (p.Asn837Ser)
|
rs1555574810
|
|
|
NM_032043.3(BRIP1):c.2510del (p.Asn837fs)
|
rs2144187480
|
|
|
NM_032043.3(BRIP1):c.2512G>C (p.Asp838His)
|
|
|
|
NM_032043.3(BRIP1):c.2513A>T (p.Asp838Val)
|
rs1567737801
|
|
|
NM_032043.3(BRIP1):c.2515T>A (p.Trp839Arg)
|
rs1555574807
|
|
|
NM_032043.3(BRIP1):c.2515T>G (p.Trp839Gly)
|
rs1555574807
|
|
|
NM_032043.3(BRIP1):c.2516G>A (p.Trp839Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter)
|
rs1555574803
|
|
|
NM_032043.3(BRIP1):c.2519G>A (p.Gly840Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2519_2520insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCANNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGATTGGGG (p.Gly840_Ala841insArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrXaaXaaXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysArgAsnAspTrpGly)
|
|
|
|
NM_032043.3(BRIP1):c.251T>A (p.Leu84Ter)
|
rs2145830278
|
|
|
NM_032043.3(BRIP1):c.251del (p.Leu84fs)
|
|
|
|
NM_032043.3(BRIP1):c.2520A>G (p.Gly840=)
|
|
|
|
NM_032043.3(BRIP1):c.2520_2521dup (p.Ala841fs)
|
|
|
|
NM_032043.3(BRIP1):c.2521G>A (p.Ala841Thr)
|
rs1555574790
|
|
|
NM_032043.3(BRIP1):c.2523_2538delinsCC (p.Leu842fs)
|
rs1603280507
|
|
|
NM_032043.3(BRIP1):c.2524C>G (p.Leu842Val)
|
rs786201802
|
|
|
NM_032043.3(BRIP1):c.2524C>T (p.Leu842Phe)
|
rs786201802
|
|
|
NM_032043.3(BRIP1):c.2524_2525del (p.Leu842fs)
|
rs1555574788
|
|
|
NM_032043.3(BRIP1):c.2525T>C (p.Leu842Pro)
|
rs1060501751
|
|
|
NM_032043.3(BRIP1):c.2525T>G (p.Leu842Arg)
|
rs1060501751
|
|
|
NM_032043.3(BRIP1):c.2526T>C (p.Leu842=)
|
rs1603280539
|
|
|
NM_032043.3(BRIP1):c.2528T>C (p.Ile843Thr)
|
rs996693020
|
|
|
NM_032043.3(BRIP1):c.252G>A (p.Leu84=)
|
|
|
|
NM_032043.3(BRIP1):c.2530C>T (p.Leu844=)
|
|
|
|
NM_032043.3(BRIP1):c.2532A>G (p.Leu844=)
|
rs1603280519
|
|
|
NM_032043.3(BRIP1):c.2533dup (p.Val845fs)
|
|
|
|
NM_032043.3(BRIP1):c.2536G>C (p.Asp846His)
|
rs876659409
|
|
|
NM_032043.3(BRIP1):c.2537A>T (p.Asp846Val)
|
rs2144186438
|
|
|
NM_032043.3(BRIP1):c.2538T>C (p.Asp846=)
|
rs2144186341
|
|
|
NM_032043.3(BRIP1):c.2538T>G (p.Asp846Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2539G>A (p.Asp847Asn)
|
rs876659013
|
|
|
NM_032043.3(BRIP1):c.253T>C (p.Ser85Pro)
|
rs2145830182
|
|
|
NM_032043.3(BRIP1):c.2540A>G (p.Asp847Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2540A>T (p.Asp847Val)
|
|
|
|
NM_032043.3(BRIP1):c.2542C>A (p.Arg848Ser)
|
rs45572934
|
|
|
NM_032043.3(BRIP1):c.2542C>G (p.Arg848Gly)
|
rs45572934
|
|
|
NM_032043.3(BRIP1):c.2542C>T (p.Arg848Cys)
|
rs45572934
|
|
|
NM_032043.3(BRIP1):c.2544C>T (p.Arg848=)
|
|
|
|
NM_032043.3(BRIP1):c.2545T>C (p.Phe849Leu)
|
rs786202317
|
|
|
NM_032043.3(BRIP1):c.2549G>A (p.Arg850Lys)
|
rs2061477480
|
|
|
NM_032043.3(BRIP1):c.254C>G (p.Ser85Ter)
|
rs587781830
|
|
|
NM_032043.3(BRIP1):c.2550G>T (p.Arg850Ser)
|
rs2144185990
|
|
|
NM_032043.3(BRIP1):c.2552A>G (p.Asn851Ser)
|
rs2061477443
|
|
|
NM_032043.3(BRIP1):c.2553T>G (p.Asn851Lys)
|
rs587781793
|
|
|
NM_032043.3(BRIP1):c.2556C>A (p.Asn852Lys)
|
|
|
|
NM_032043.3(BRIP1):c.2556C>G (p.Asn852Lys)
|
rs876658785
|
|
|
NM_032043.3(BRIP1):c.2556C>T (p.Asn852=)
|
rs876658785
|
|
|
NM_032043.3(BRIP1):c.2558C>G (p.Pro853Arg)
|
rs1060501775
|
|
|
NM_032043.3(BRIP1):c.2558C>T (p.Pro853Leu)
|
rs1060501775
|
|
|
NM_032043.3(BRIP1):c.2558del (p.Pro853fs)
|
|
|
|
NM_032043.3(BRIP1):c.255A>C (p.Ser85=)
|
rs2078909755
|
|
|
NM_032043.3(BRIP1):c.255A>G (p.Ser85=)
|
|
|
|
NM_032043.3(BRIP1):c.255A>T (p.Ser85=)
|
|
|
|
NM_032043.3(BRIP1):c.2561G>A (p.Ser854Asn)
|
rs2061477133
|
|
|
NM_032043.3(BRIP1):c.2561G>T (p.Ser854Ile)
|
rs2061477133
|
|
|
NM_032043.3(BRIP1):c.2562T>C (p.Ser854=)
|
rs1555574734
|
|
|
NM_032043.3(BRIP1):c.2562T>G (p.Ser854Arg)
|
rs1555574734
|
|
|
NM_032043.3(BRIP1):c.2563C>A (p.Arg855Ser)
|
rs146031731
|
|
|
NM_032043.3(BRIP1):c.2564G>T (p.Arg855Leu)
|
rs200894063
|
|
|
NM_032043.3(BRIP1):c.2565C>G (p.Arg855=)
|
|
|
|
NM_032043.3(BRIP1):c.2565C>T (p.Arg855=)
|
|
|
|
NM_032043.3(BRIP1):c.2566T>C (p.Tyr856His)
|
rs2061476921
|
|
|
NM_032043.3(BRIP1):c.2568T>A (p.Tyr856Ter)
|
rs370175724
|
|
|
NM_032043.3(BRIP1):c.256T>C (p.Cys86Arg)
|
rs1555617900
|
|
|
NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del)
|
rs587781388
|
|
|
NM_032043.3(BRIP1):c.2570T>C (p.Ile857Thr)
|
rs766432760
|
|
|
NM_032043.3(BRIP1):c.2571A>T (p.Ile857=)
|
rs1427254734
|
|
|
NM_032043.3(BRIP1):c.2574T>C (p.Ser858=)
|
rs1555574712
|
|
|
NM_032043.3(BRIP1):c.2575+10C>T
|
rs1060504322
|
|
|
NM_032043.3(BRIP1):c.2575+12G>A
|
rs1555574706
|
|
|
NM_032043.3(BRIP1):c.2575+12G>C
|
rs1555574706
|
|
|
NM_032043.3(BRIP1):c.2575+13C>G
|
|
|
|
NM_032043.3(BRIP1):c.2575+14T>C
|
rs1567737501
|
|
|
NM_032043.3(BRIP1):c.2575+15G>C
|
|
|
|
NM_032043.3(BRIP1):c.2575+16G>A
|
|
|
|
NM_032043.3(BRIP1):c.2575+1G>A
|
rs1567737536
|
|
|
NM_032043.3(BRIP1):c.2575+1G>C
|
|
|
|
NM_032043.3(BRIP1):c.2575+1G>T
|
rs1567737536
|
|
|
NM_032043.3(BRIP1):c.2575+20T>C
|
|
|
|
NM_032043.3(BRIP1):c.2575+2dup
|
rs1555574711
|
|
|
NM_032043.3(BRIP1):c.2575+6A>G
|
rs1555574710
|
|
|
NM_032043.3(BRIP1):c.2575+6A>T
|
rs1555574710
|
|
|
NM_032043.3(BRIP1):c.2575+6dup
|
|
|
|
NM_032043.3(BRIP1):c.2575G>A (p.Gly859Arg)
|
rs2061476512
|
|
|
NM_032043.3(BRIP1):c.2576-12C>A
|
rs2061362510
|
|
|
NM_032043.3(BRIP1):c.2576-12C>T
|
rs2061362510
|
|
|
NM_032043.3(BRIP1):c.2576-13C>T
|
|
|
|
NM_032043.3(BRIP1):c.2576-14A>T
|
|
|
|
NM_032043.3(BRIP1):c.2576-16T>G
|
|
|
|
NM_032043.3(BRIP1):c.2576-17T>C
|
rs1057517647
|
|
|
NM_032043.3(BRIP1):c.2576-17T>G
|
rs1057517647
|
|
|
NM_032043.3(BRIP1):c.2576-18G>A
|
rs1369955810
|
|
|
NM_032043.3(BRIP1):c.2576-18G>T
|
|
|
|
NM_032043.3(BRIP1):c.2576-19G>A
|
rs1057521888
|
|
|
NM_032043.3(BRIP1):c.2576-19G>T
|
rs1057521888
|
|
|
NM_032043.3(BRIP1):c.2576-1G>A
|
rs587782539
|
|
|
NM_032043.3(BRIP1):c.2576-1G>T
|
rs587782539
|
|
|
NM_032043.3(BRIP1):c.2576-2A>C
|
|
|
|
NM_032043.3(BRIP1):c.2576-2A>G
|
rs869312763
|
|
|
NM_032043.3(BRIP1):c.2576-3T>C
|
rs2144119000
|
|
|
NM_032043.3(BRIP1):c.2576-4T>C
|
rs1603277027
|
|
|
NM_032043.3(BRIP1):c.2576-6C>T
|
|
|
|
NM_032043.3(BRIP1):c.2576-7T>A
|
rs759408257
|
|
|
NM_032043.3(BRIP1):c.2576-8T>C
|
rs587780874
|
|
|
NM_032043.3(BRIP1):c.2576G>A (p.Gly859Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2578C>T (p.Leu860Phe)
|
rs1555573507
|
|
|
NM_032043.3(BRIP1):c.2580T>C (p.Leu860=)
|
rs1603277017
|
|
|
NM_032043.3(BRIP1):c.2581T>C (p.Ser861Pro)
|
rs1567732145
|
|
|
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs)
|
rs1567732136
|
|
|
NM_032043.3(BRIP1):c.2583T>G (p.Ser861=)
|
rs2144118726
|
|
|
NM_032043.3(BRIP1):c.2584A>G (p.Lys862Glu)
|
rs1603277012
|
|
|
NM_032043.3(BRIP1):c.2586A>G (p.Lys862=)
|
rs745318756
|
|
|
NM_032043.3(BRIP1):c.2586A>T (p.Lys862Asn)
|
rs745318756
|
|
|
NM_032043.3(BRIP1):c.2587T>C (p.Trp863Arg)
|
rs876660452
|
|
|
NM_032043.3(BRIP1):c.2589G>A (p.Trp863Ter)
|
rs1555573497
|
|
|
NM_032043.3(BRIP1):c.2589_2590insTACG (p.Val864fs)
|
rs1603277005
|
|
|
NM_032043.3(BRIP1):c.258T>C (p.Cys86=)
|
|
|
|
NM_032043.3(BRIP1):c.258_269del (p.Cys87_Cys90del)
|
rs730881648
|
|
|
NM_032043.3(BRIP1):c.2591T>C (p.Val864Ala)
|
rs1294102948
|
|
|
NM_032043.3(BRIP1):c.2592A>G (p.Val864=)
|
rs2061361778
|
|
|
NM_032043.3(BRIP1):c.2594G>C (p.Arg865Pro)
|
rs781609846
|
|
|
NM_032043.3(BRIP1):c.2595G>A (p.Arg865=)
|
|
|
|
NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2597A>T (p.Gln866Leu)
|
rs1603276987
|
|
|
NM_032043.3(BRIP1):c.2599C>A (p.Gln867Lys)
|
rs182028200
|
|
|
NM_032043.3(BRIP1):c.2599C>T (p.Gln867Ter)
|
|
|
|
NM_032043.3(BRIP1):c.259T>A (p.Cys87Ser)
|
rs1555617897
|
|
|
NM_032043.3(BRIP1):c.259T>C (p.Cys87Arg)
|
rs1555617897
|
|
|
NM_032043.3(BRIP1):c.25A>G (p.Thr9Ala)
|
rs2078973246
|
|
|
NM_032043.3(BRIP1):c.2600A>C (p.Gln867Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2603T>C (p.Ile868Thr)
|
rs2061361421
|
|
|
NM_032043.3(BRIP1):c.2604T>C (p.Ile868=)
|
rs1555573489
|
|
|
NM_032043.3(BRIP1):c.2605C>G (p.Gln869Glu)
|
rs1060501766
|
|
|
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)
|
rs1060501766
|
|
|
NM_032043.3(BRIP1):c.2606A>C (p.Gln869Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2606del (p.Gln869fs)
|
|
|
|
NM_032043.3(BRIP1):c.2607G>A (p.Gln869=)
|
|
|
|
NM_032043.3(BRIP1):c.2609A>C (p.His870Pro)
|
rs864622201
|
|
|
NM_032043.3(BRIP1):c.2609A>G (p.His870Arg)
|
|
|
|
NM_032043.3(BRIP1):c.260G>A (p.Cys87Tyr)
|
rs863224800
|
|
|
NM_032043.3(BRIP1):c.260G>C (p.Cys87Ser)
|
rs863224800
|
|
|
NM_032043.3(BRIP1):c.2610C>A (p.His870Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2610C>G (p.His870Gln)
|
rs2144117805
|
|
|
NM_032043.3(BRIP1):c.2611C>T (p.His871Tyr)
|
rs786203288
|
|
|
NM_032043.3(BRIP1):c.2613T>A (p.His871Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2614T>A (p.Ser872Thr)
|
rs2061360803
|
|
|
NM_032043.3(BRIP1):c.2615C>A (p.Ser872Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2615C>T (p.Ser872Leu)
|
rs587781964
|
|
|
NM_032043.3(BRIP1):c.2617A>T (p.Thr873Ser)
|
rs758444508
|
|
|
NM_032043.3(BRIP1):c.2624A>G (p.Glu875Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2626A>G (p.Ser876Gly)
|
rs1555573469
|
|
|
NM_032043.3(BRIP1):c.2627G>A (p.Ser876Asn)
|
rs750961319
|
|
|
NM_032043.3(BRIP1):c.2628T>A (p.Ser876Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2628T>G (p.Ser876Arg)
|
rs1032574757
|
|
|
NM_032043.3(BRIP1):c.2629G>A (p.Ala877Thr)
|
|
|
|
NM_032043.3(BRIP1):c.2629G>C (p.Ala877Pro)
|
rs1567731966
|
|
|
NM_032043.3(BRIP1):c.262T>G (p.Cys88Gly)
|
rs1555617890
|
|
|
NM_032043.3(BRIP1):c.2630C>T (p.Ala877Val)
|
rs1555573465
|
|
|
NM_032043.3(BRIP1):c.2631A>G (p.Ala877=)
|
rs786201336
|
|
|
NM_032043.3(BRIP1):c.2634G>A (p.Leu878=)
|
|
|
|
NM_032043.3(BRIP1):c.2634_2637delinsAGAG (p.Leu878_Glu879=)
|
|
|
|
NM_032043.3(BRIP1):c.2635G>A (p.Glu879Lys)
|
rs1391013628
|
|
|
NM_032043.3(BRIP1):c.2636A>G (p.Glu879Gly)
|
rs1202665874
|
|
|
NM_032043.3(BRIP1):c.2637_2640delinsGTCT (p.Glu879_Ser880=)
|
|
|
|
NM_032043.3(BRIP1):c.263G>A (p.Cys88Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2640C>T (p.Ser880=)
|
rs2144116731
|
|
|
NM_032043.3(BRIP1):c.2640del (p.Leu881fs)
|
rs1567731917
|
|
|
NM_032043.3(BRIP1):c.2642T>C (p.Leu881Ser)
|
rs2061359874
|
|
|
NM_032043.3(BRIP1):c.2642T>G (p.Leu881Trp)
|
rs2061359874
|
|
|
NM_032043.3(BRIP1):c.2643G>A (p.Leu881=)
|
rs2144116635
|
|
|
NM_032043.3(BRIP1):c.2647G>A (p.Glu883Lys)
|
rs2061359691
|
|
|
NM_032043.3(BRIP1):c.2648A>G (p.Glu883Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2649del (p.Glu883fs)
|
|
|
|
NM_032043.3(BRIP1):c.264T>C (p.Cys88=)
|
|
|
|
NM_032043.3(BRIP1):c.2650T>A (p.Phe884Ile)
|
rs587780243
|
|
|
NM_032043.3(BRIP1):c.2655C>T (p.Ser885=)
|
rs2061359430
|
|
|
NM_032043.3(BRIP1):c.2656A>C (p.Lys886Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2656A>T (p.Lys886Ter)
|
|
|
|
NM_032043.3(BRIP1):c.265G>A (p.Ala89Thr)
|
rs1555617884
|
|
|
NM_032043.3(BRIP1):c.265G>T (p.Ala89Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2661G>T (p.Lys887Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2662C>G (p.His888Asp)
|
rs757668121
|
|
|
NM_032043.3(BRIP1):c.2663A>C (p.His888Pro)
|
rs2061359359
|
|
|
NM_032043.3(BRIP1):c.2664T>C (p.His888=)
|
rs2144115975
|
|
|
NM_032043.3(BRIP1):c.2665C>T (p.Gln889Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2666A>G (p.Gln889Arg)
|
rs2061359230
|
|
|
NM_032043.3(BRIP1):c.2667A>G (p.Gln889=)
|
|
|
|
NM_032043.3(BRIP1):c.2668A>C (p.Lys890Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2669A>G (p.Lys890Arg)
|
rs902432731
|
|
|
NM_032043.3(BRIP1):c.266C>G (p.Ala89Gly)
|
rs1349422972
|
|
|
NM_032043.3(BRIP1):c.2670A>G (p.Lys890=)
|
rs1603276885
|
|
|
NM_032043.3(BRIP1):c.2670del (p.Val891fs)
|
rs2144115743
|
|
|
NM_032043.3(BRIP1):c.2671G>A (p.Val891Ile)
|
rs754224663
|
|
|
NM_032043.3(BRIP1):c.2671del (p.Val891fs)
|
|
|
|
NM_032043.3(BRIP1):c.2672T>C (p.Val891Ala)
|
|
|
|
NM_032043.3(BRIP1):c.2674C>G (p.Leu892Val)
|
rs2144115542
|
|
|
NM_032043.3(BRIP1):c.2675T>A (p.Leu892His)
|
rs2061358811
|
|
|
NM_032043.3(BRIP1):c.2676T>A (p.Leu892=)
|
|
|
|
NM_032043.3(BRIP1):c.2676T>C (p.Leu892=)
|
rs2144115485
|
|
|
NM_032043.3(BRIP1):c.2677A>C (p.Asn893His)
|
rs2144115463
|
|
|
NM_032043.3(BRIP1):c.2679T>C (p.Asn893=)
|
rs2144115408
|
|
|
NM_032043.3(BRIP1):c.267A>G (p.Ala89=)
|
rs764027029
|
|
|
NM_032043.3(BRIP1):c.267A>T (p.Ala89=)
|
rs764027029
|
|
|
NM_032043.3(BRIP1):c.2680G>A (p.Val894Ile)
|
rs1603276880
|
|
|
NM_032043.3(BRIP1):c.2682A>G (p.Val894=)
|
rs1555573439
|
|
|
NM_032043.3(BRIP1):c.2682A>T (p.Val894=)
|
|
|
|
NM_032043.3(BRIP1):c.2683del (p.Ser895fs)
|
|
|
|
NM_032043.3(BRIP1):c.2684C>T (p.Ser895Phe)
|
|
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
|
NM_032043.3(BRIP1):c.2686A>C (p.Ile896Leu)
|
rs764406913
|
|
|
NM_032043.3(BRIP1):c.2690del (p.Lys897fs)
|
rs2061358219
|
|
|
NM_032043.3(BRIP1):c.2691G>A (p.Lys897=)
|
rs1555573425
|
|
|
NM_032043.3(BRIP1):c.2692del (p.Asp898fs)
|
|
|
|
NM_032043.3(BRIP1):c.2693A>G (p.Asp898Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2694C>T (p.Asp898=)
|
|
|
|
NM_032043.3(BRIP1):c.2697A>C (p.Arg899Ser)
|
rs1603276849
|
|
|
NM_032043.3(BRIP1):c.2698A>C (p.Thr900Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2699C>A (p.Thr900Asn)
|
rs1359809807
|
|
|
NM_032043.3(BRIP1):c.2699C>G (p.Thr900Ser)
|
rs1359809807
|
|
|
NM_032043.3(BRIP1):c.2699C>T (p.Thr900Ile)
|
|
|
|
NM_032043.3(BRIP1):c.26del (p.Thr9fs)
|
rs2145865744
|
|
|
NM_032043.3(BRIP1):c.2700C>A (p.Thr900=)
|
|
|
|
NM_032043.3(BRIP1):c.2700C>G (p.Thr900=)
|
|
|
|
NM_032043.3(BRIP1):c.2700C>T (p.Thr900=)
|
|
|
|
NM_032043.3(BRIP1):c.2703T>C (p.Asn901=)
|
|
|
|
NM_032043.3(BRIP1):c.2705_2706del (p.Ile902fs)
|
|
|
|
NM_032043.3(BRIP1):c.2707C>A (p.Gln903Lys)
|
rs1603276837
|
|
|
NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2708A>C (p.Gln903Pro)
|
rs2061357542
|
|
|
NM_032043.3(BRIP1):c.2708A>G (p.Gln903Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2709G>A (p.Gln903=)
|
|
|
|
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter)
|
rs1060501740
|
|
|
NM_032043.3(BRIP1):c.270C>T (p.Cys90=)
|
rs1060501740
|
|
|
NM_032043.3(BRIP1):c.2710G>A (p.Asp904Asn)
|
rs1555573413
|
|
|
NM_032043.3(BRIP1):c.2712C>A (p.Asp904Glu)
|
rs1567731807
|
|
|
NM_032043.3(BRIP1):c.2714A>G (p.Asn905Ser)
|
rs1555573412
|
|
|
NM_032043.3(BRIP1):c.2714del (p.Asn905fs)
|
rs2144114210
|
|
|
NM_032043.3(BRIP1):c.2716G>T (p.Glu906Ter)
|
rs759080195
|
|
|
NM_032043.3(BRIP1):c.2718G>A (p.Glu906=)
|
rs1042327124
|
|
|
NM_032043.3(BRIP1):c.2718G>T (p.Glu906Asp)
|
rs1042327124
|
|
|
NM_032043.3(BRIP1):c.271C>T (p.His91Tyr)
|
rs2145829433
|
|
|
NM_032043.3(BRIP1):c.2720C>T (p.Ser907Phe)
|
rs2061357079
|
|
|
NM_032043.3(BRIP1):c.2721T>A (p.Ser907=)
|
rs774467171
|
|
|
NM_032043.3(BRIP1):c.2721T>C (p.Ser907=)
|
rs774467171
|
|
|
NM_032043.3(BRIP1):c.2725C>A (p.Leu909Ile)
|
|
|
|
NM_032043.3(BRIP1):c.2725C>G (p.Leu909Val)
|
rs587781853
|
|
|
NM_032043.3(BRIP1):c.2725C>T (p.Leu909Phe)
|
rs587781853
|
|
|
NM_032043.3(BRIP1):c.2726T>C (p.Leu909Pro)
|
rs770966270
|
|
|
NM_032043.3(BRIP1):c.2726T>G (p.Leu909Arg)
|
rs770966270
|
|
|
NM_032043.3(BRIP1):c.2727T>G (p.Leu909=)
|
|
|
|
NM_032043.3(BRIP1):c.2727dup (p.Glu910Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2728G>C (p.Glu910Gln)
|
rs1007808618
|
|
|
NM_032043.3(BRIP1):c.2729A>G (p.Glu910Gly)
|
rs1603276787
|
|
|
NM_032043.3(BRIP1):c.2729_2730del (p.Glu910fs)
|
rs2144113535
|
|
|
NM_032043.3(BRIP1):c.272A>C (p.His91Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2731G>T (p.Val911Leu)
|
rs1555573392
|
|
|
NM_032043.3(BRIP1):c.2732T>G (p.Val911Gly)
|
rs2144113358
|
|
|
NM_032043.3(BRIP1):c.2733del (p.Thr912fs)
|
|
|
|
NM_032043.3(BRIP1):c.2735C>A (p.Thr912Asn)
|
rs571949350
|
|
|
NM_032043.3(BRIP1):c.2737T>G (p.Ser913Ala)
|
rs1555573382
|
|
|
NM_032043.3(BRIP1):c.2737del (p.Ser913fs)
|
rs1555573386
|
|
|
NM_032043.3(BRIP1):c.2739T>C (p.Ser913=)
|
rs878855147
|
|
|
NM_032043.3(BRIP1):c.273T>G (p.His91Gln)
|
rs2145829382
|
|
|
NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser)
|
rs886053215
|
|
|
NM_032043.3(BRIP1):c.2741del (p.Ser913_Leu914insTer)
|
rs2144113001
|
|
|
NM_032043.3(BRIP1):c.2742A>G (p.Leu914=)
|
rs876659985
|
|
|
NM_032043.3(BRIP1):c.2742_2749del (p.Lys915fs)
|
rs2144112699
|
|
|
NM_032043.3(BRIP1):c.2745G>A (p.Lys915=)
|
|
|
|
NM_032043.3(BRIP1):c.2746T>A (p.Tyr916Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2746T>C (p.Tyr916His)
|
rs2144112786
|
|
|
NM_032043.3(BRIP1):c.2749A>G (p.Ser917Gly)
|
rs1603276749
|
|
|
NM_032043.3(BRIP1):c.274T>C (p.Ser92Pro)
|
rs755930156
|
|
|
NM_032043.3(BRIP1):c.2751_2755delinsCACCC (p.Ser919Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2752A>G (p.Thr918Ala)
|
rs1060501759
|
|
|
NM_032043.3(BRIP1):c.2753C>G (p.Thr918Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2753C>T (p.Thr918Ile)
|
rs587781298
|
|
|
NM_032043.3(BRIP1):c.2754C>T (p.Thr918=)
|
rs878855148
|
|
|
NM_032043.3(BRIP1):c.2754_2755delinsTC (p.Ser919Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2754dup (p.Ser919fs)
|
|
|
|
NM_032043.3(BRIP1):c.2755delinsCC (p.Ser919fs)
|
|
|
|
NM_032043.3(BRIP1):c.2756dup (p.Pro920fs)
|
rs1603276728
|
|
|
NM_032043.3(BRIP1):c.2759C>T (p.Pro920Leu)
|
|
|
|
NM_032043.3(BRIP1):c.275C>G (p.Ser92Ter)
|
rs1603366351
|
|
|
NM_032043.3(BRIP1):c.275C>T (p.Ser92Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2761T>A (p.Tyr921Asn)
|
rs2144112225
|
|
|
NM_032043.3(BRIP1):c.2763T>C (p.Tyr921=)
|
rs1555573356
|
|
|
NM_032043.3(BRIP1):c.2763T>G (p.Tyr921Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2764_2784del (p.Leu923_Leu929del)
|
rs2061355023
|
|
|
NM_032043.3(BRIP1):c.2766A>G (p.Leu922=)
|
rs2144112073
|
|
|
NM_032043.3(BRIP1):c.2767C>T (p.Leu923=)
|
rs1057521544
|
|
|
NM_032043.3(BRIP1):c.2768T>C (p.Leu923Pro)
|
rs2144112007
|
|
|
NM_032043.3(BRIP1):c.2769G>A (p.Leu923=)
|
rs1183897309
|
|
|
NM_032043.3(BRIP1):c.276A>G (p.Ser92=)
|
rs786202281
|
|
|
NM_032043.3(BRIP1):c.2770G>A (p.Glu924Lys)
|
rs1555573342
|
|
|
NM_032043.3(BRIP1):c.2770G>T (p.Glu924Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2771A>T (p.Glu924Val)
|
rs1567731533
|
|
|
NM_032043.3(BRIP1):c.2772A>G (p.Glu924=)
|
rs730881625
|
|
|
NM_032043.3(BRIP1):c.2773G>A (p.Ala925Thr)
|
rs2061355245
|
|
|
NM_032043.3(BRIP1):c.2774C>G (p.Ala925Gly)
|
rs2061355212
|
|
|
NM_032043.3(BRIP1):c.2775A>G (p.Ala925=)
|
rs1340804078
|
|
|
NM_032043.3(BRIP1):c.2779A>G (p.Ser927Gly)
|
rs2061355061
|
|
|
NM_032043.3(BRIP1):c.2785C>T (p.Leu929=)
|
rs1603276698
|
|
|
NM_032043.3(BRIP1):c.2786T>C (p.Leu929Pro)
|
rs772087074
|
|
|
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs)
|
rs1295703239
|
|
|
NM_032043.3(BRIP1):c.2786_2789dup (p.Pro931fs)
|
rs1295703239
|
|
|
NM_032043.3(BRIP1):c.2787A>G (p.Leu929=)
|
|
|
|
NM_032043.3(BRIP1):c.2788T>A (p.Ser930Thr)
|
|
|
|
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2789C>G (p.Ser930Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2790A>C (p.Ser930=)
|
|
|
|
NM_032043.3(BRIP1):c.2791C>T (p.Pro931Ser)
|
rs745940032
|
|
|
NM_032043.3(BRIP1):c.2792C>A (p.Pro931Gln)
|
rs932408573
|
|
|
NM_032043.3(BRIP1):c.2792C>T (p.Pro931Leu)
|
rs932408573
|
|
|
NM_032043.3(BRIP1):c.2792del (p.Pro931fs)
|
rs1555573327
|
|
|
NM_032043.3(BRIP1):c.2793A>G (p.Pro931=)
|
|
|
|
NM_032043.3(BRIP1):c.2798dup (p.Asn933fs)
|
|
|
|
NM_032043.3(BRIP1):c.2799T>C (p.Asn933=)
|
rs2144110883
|
|
|
NM_032043.3(BRIP1):c.279G>A (p.Lys93=)
|
|
|
|
NM_032043.3(BRIP1):c.2801T>G (p.Phe934Cys)
|
rs778916092
|
|
|
NM_032043.3(BRIP1):c.2803G>A (p.Val935Met)
|
rs1219152456
|
|
|
NM_032043.3(BRIP1):c.2804T>C (p.Val935Ala)
|
rs4988356
|
|
|
NM_032043.3(BRIP1):c.2805G>C (p.Val935=)
|
|
|
|
NM_032043.3(BRIP1):c.2807A>G (p.Glu936Gly)
|
rs878855149
|
|
|
NM_032043.3(BRIP1):c.2807A>T (p.Glu936Val)
|
rs878855149
|
|
|
NM_032043.3(BRIP1):c.2808A>G (p.Glu936=)
|
|
|
|
NM_032043.3(BRIP1):c.2809G>A (p.Asp937Asn)
|
rs2061354513
|
|
|
NM_032043.3(BRIP1):c.2809G>T (p.Asp937Tyr)
|
rs2061354513
|
|
|
NM_032043.3(BRIP1):c.2810A>G (p.Asp937Gly)
|
rs2061354479
|
|
|
NM_032043.3(BRIP1):c.2811T>G (p.Asp937Glu)
|
rs374335608
|
|
|
NM_032043.3(BRIP1):c.2812G>A (p.Glu938Lys)
|
rs199643061
|
|
|
NM_032043.3(BRIP1):c.2812G>T (p.Glu938Ter)
|
rs199643061
|
|
|
NM_032043.3(BRIP1):c.2813A>G (p.Glu938Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2814A>C (p.Glu938Asp)
|
rs1555573311
|
|
|
NM_032043.3(BRIP1):c.2814A>G (p.Glu938=)
|
rs1555573311
|
|
|
NM_032043.3(BRIP1):c.2815G>A (p.Ala939Thr)
|
rs2061354305
|
|
|
NM_032043.3(BRIP1):c.2817A>G (p.Ala939=)
|
|
|
|
NM_032043.3(BRIP1):c.2820G>C (p.Lys940Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2821A>C (p.Ile941Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2821A>G (p.Ile941Val)
|
rs2144110175
|
|
|
NM_032043.3(BRIP1):c.2824T>A (p.Cys942Ser)
|
|
|
|
NM_032043.3(BRIP1):c.2824T>C (p.Cys942Arg)
|
rs1567731308
|
|
|
NM_032043.3(BRIP1):c.2825G>A (p.Cys942Tyr)
|
rs370330739
|
|
|
NM_032043.3(BRIP1):c.2827G>C (p.Val943Leu)
|
rs1401830781
|
|
|
NM_032043.3(BRIP1):c.2828T>C (p.Val943Ala)
|
rs786204143
|
|
|
NM_032043.3(BRIP1):c.2829C>A (p.Val943=)
|
rs767164240
|
|
|
NM_032043.3(BRIP1):c.2829C>G (p.Val943=)
|
rs767164240
|
|
|
NM_032043.3(BRIP1):c.2829C>T (p.Val943=)
|
rs767164240
|
|
|
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)
|
rs140233356
|
|
|
NM_032043.3(BRIP1):c.2831A>C (p.Gln944Pro)
|
rs148232408
|
|
|
NM_032043.3(BRIP1):c.2831A>G (p.Gln944Arg)
|
rs148232408
|
|
|
NM_032043.3(BRIP1):c.2831dup (p.Glu945fs)
|
|
|
|
NM_032043.3(BRIP1):c.2832G>C (p.Gln944His)
|
rs1603276606
|
|
|
NM_032043.3(BRIP1):c.2833G>A (p.Glu945Lys)
|
rs863224802
|
|
|
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.2835_2838del (p.Glu945fs)
|
|
|
|
NM_032043.3(BRIP1):c.2836C>A (p.Leu946Ile)
|
rs1603276593
|
|
|
NM_032043.3(BRIP1):c.2836C>G (p.Leu946Val)
|
rs1603276593
|
|
|
NM_032043.3(BRIP1):c.2837T>A (p.Leu946Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter)
|
rs2061353270
|
|
|
NM_032043.3(BRIP1):c.2839_2840del (p.Gln947fs)
|
|
|
|
NM_032043.3(BRIP1):c.283T>G (p.Phe95Val)
|
|
|
|
NM_032043.3(BRIP1):c.2840A>G (p.Gln947Arg)
|
rs876659756
|
|
|
NM_032043.3(BRIP1):c.2844T>G (p.Cys948Trp)
|
rs1567731150
|
|
|
NM_032043.3(BRIP1):c.2846del (p.Pro949fs)
|
|
|
|
NM_032043.3(BRIP1):c.2847T>C (p.Pro949=)
|
rs45499991
|
|
|
NM_032043.3(BRIP1):c.2847T>G (p.Pro949=)
|
rs45499991
|
|
|
NM_032043.3(BRIP1):c.2848A>C (p.Lys950Gln)
|
|
|
|
NM_032043.3(BRIP1):c.2850A>C (p.Lys950Asn)
|
rs1603276576
|
|
|
NM_032043.3(BRIP1):c.2851A>G (p.Ile951Val)
|
rs730881626
|
|
|
NM_032043.3(BRIP1):c.2853T>C (p.Ile951=)
|
|
|
|
NM_032043.3(BRIP1):c.2855T>G (p.Ile952Ser)
|
rs1060501735
|
|
|
NM_032043.3(BRIP1):c.2857A>G (p.Thr953Ala)
|
rs587780245
|
|
|
NM_032043.3(BRIP1):c.2858C>A (p.Thr953Asn)
|
|
|
|
NM_032043.3(BRIP1):c.2859C>A (p.Thr953=)
|
rs786201685
|
|
|
NM_032043.3(BRIP1):c.2859C>G (p.Thr953=)
|
|
|
|
NM_032043.3(BRIP1):c.2861A>C (p.Lys954Thr)
|
rs2144108739
|
|
|
NM_032043.3(BRIP1):c.2861A>G (p.Lys954Arg)
|
rs2144108739
|
|
|
NM_032043.3(BRIP1):c.2863A>G (p.Asn955Asp)
|
rs587782244
|
|
|
NM_032043.3(BRIP1):c.2864A>G (p.Asn955Ser)
|
rs2144108643
|
|
|
NM_032043.3(BRIP1):c.2864del (p.Asn955fs)
|
|
|
|
NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter)
|
rs761639530
|
|
|
NM_032043.3(BRIP1):c.2868A>G (p.Ser956=)
|
rs1060504321
|
|
|
NM_032043.3(BRIP1):c.2869C>G (p.Pro957Ala)
|
rs2061352600
|
|
|
NM_032043.3(BRIP1):c.286A>G (p.Thr96Ala)
|
|
|
|
NM_032043.3(BRIP1):c.2870C>T (p.Pro957Leu)
|
rs786203077
|
|
|
NM_032043.3(BRIP1):c.2871T>C (p.Pro957=)
|
rs786202095
|
|
|
NM_032043.3(BRIP1):c.2872C>T (p.Leu958=)
|
rs1555573260
|
|
|
NM_032043.3(BRIP1):c.2873T>C (p.Leu958Pro)
|
rs145859791
|
|
|
NM_032043.3(BRIP1):c.2874A>C (p.Leu958=)
|
|
|
|
NM_032043.3(BRIP1):c.2874A>G (p.Leu958=)
|
rs886041147
|
|
|
NM_032043.3(BRIP1):c.2876C>G (p.Pro959Arg)
|
rs1567731036
|
|
|
NM_032043.3(BRIP1):c.2878A>C (p.Ser960Arg)
|
rs1603276532
|
|
|
NM_032043.3(BRIP1):c.2878A>G (p.Ser960Gly)
|
rs1603276532
|
|
|
NM_032043.3(BRIP1):c.287C>T (p.Thr96Ile)
|
rs2078908690
|
|
|
NM_032043.3(BRIP1):c.2882G>A (p.Ser961Asn)
|
rs1060501732
|
|
|
NM_032043.3(BRIP1):c.2883C>T (p.Ser961=)
|
rs367728797
|
|
|
NM_032043.3(BRIP1):c.2884A>G (p.Ile962Val)
|
rs1603276520
|
|
|
NM_032043.3(BRIP1):c.288A>G (p.Thr96=)
|
rs1278121295
|
|
|
NM_032043.3(BRIP1):c.2891C>T (p.Ser964Phe)
|
|
|
|
NM_032043.3(BRIP1):c.2893A>G (p.Arg965Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2893del (p.Arg965fs)
|
|
|
|
NM_032043.3(BRIP1):c.2894G>A (p.Arg965Lys)
|
rs2061351932
|
|
|
NM_032043.3(BRIP1):c.2895A>G (p.Arg965=)
|
rs2061351890
|
|
|
NM_032043.3(BRIP1):c.2896A>G (p.Lys966Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2897A>G (p.Lys966Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2898G>A (p.Lys966=)
|
rs1603276512
|
|
|
NM_032043.3(BRIP1):c.2899G>A (p.Glu967Lys)
|
rs1305928655
|
|
|
NM_032043.3(BRIP1):c.2899G>T (p.Glu967Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
|
|
|
|
NM_032043.3(BRIP1):c.289A>T (p.Asn97Tyr)
|
rs2078908581
|
|
|
NM_032043.3(BRIP1):c.28A>G (p.Ile10Val)
|
rs945685514
|
|
|
NM_032043.3(BRIP1):c.2902delA (p.Asn969fs)
|
|
|
|
NM_032043.3(BRIP1):c.2905+117_2905+118insTA
|
rs2144105643
|
|
|
NM_032043.3(BRIP1):c.2905+11T>C
|
|
|
|
NM_032043.3(BRIP1):c.2905+13C>A
|
rs2144107162
|
|
|
NM_032043.3(BRIP1):c.2905+16C>G
|
rs778341139
|
|
|
NM_032043.3(BRIP1):c.2905+17C>A
|
rs1458780264
|
|
|
NM_032043.3(BRIP1):c.2905+17C>G
|
rs1458780264
|
|
|
NM_032043.3(BRIP1):c.2905+17C>T
|
rs1458780264
|
|
|
NM_032043.3(BRIP1):c.2905+18C>T
|
|
|
|
NM_032043.3(BRIP1):c.2905+19A>G
|
rs1363568922
|
|
|
NM_032043.3(BRIP1):c.2905+19_2905+23del
|
rs1157279744
|
|
|
NM_032043.3(BRIP1):c.2905+1G>A
|
rs876660203
|
|
|
NM_032043.3(BRIP1):c.2905+1G>T
|
rs876660203
|
|
|
NM_032043.3(BRIP1):c.2905+2T>A
|
|
|
|
NM_032043.3(BRIP1):c.2905+31T>C
|
rs1603276473
|
|
|
NM_032043.3(BRIP1):c.2905+3A>T
|
|
|
|
NM_032043.3(BRIP1):c.2905+4T>A
|
rs373835270
|
|
|
NM_032043.3(BRIP1):c.2905+5G>A
|
|
|
|
NM_032043.3(BRIP1):c.2905+6A>T
|
|
|
|
NM_032043.3(BRIP1):c.2905+7A>G
|
|
|
|
NM_032043.3(BRIP1):c.2905+9A>C
|
rs770944170
|
|
|
NM_032043.3(BRIP1):c.2906-10G>A
|
rs1437222408
|
|
|
NM_032043.3(BRIP1):c.2906-10G>T
|
|
|
|
NM_032043.3(BRIP1):c.2906-11del
|
|
|
|
NM_032043.3(BRIP1):c.2906-12T>C
|
|
|
|
NM_032043.3(BRIP1):c.2906-13C>A
|
|
|
|
NM_032043.3(BRIP1):c.2906-13C>T
|
|
|
|
NM_032043.3(BRIP1):c.2906-15T>C
|
|
|
|
NM_032043.3(BRIP1):c.2906-17A>C
|
|
|
|
NM_032043.3(BRIP1):c.2906-18A>C
|
|
|
|
NM_032043.3(BRIP1):c.2906-18A>G
|
|
|
|
NM_032043.3(BRIP1):c.2906-18dup
|
rs1456830185
|
|
|
NM_032043.3(BRIP1):c.2906-2A>C
|
|
|
|
NM_032043.3(BRIP1):c.2906-3T>A
|
rs370819200
|
|
|
NM_032043.3(BRIP1):c.2906-3T>G
|
rs370819200
|
|
|
NM_032043.3(BRIP1):c.2906-6T>A
|
|
|
|
NM_032043.3(BRIP1):c.2906-7T>C
|
rs1237575383
|
|
|
NM_032043.3(BRIP1):c.2906-7T>G
|
rs1237575383
|
|
|
NM_032043.3(BRIP1):c.2906-8A>G
|
rs1555573005
|
|
|
NM_032043.3(BRIP1):c.2906A>G (p.Asn969Ser)
|
rs1603275723
|
|
|
NM_032043.3(BRIP1):c.2907T>C (p.Asn969=)
|
rs1555572999
|
|
|
NM_032043.3(BRIP1):c.2908G>A (p.Asp970Asn)
|
rs1555572994
|
|
|
NM_032043.3(BRIP1):c.2909A>C (p.Asp970Ala)
|
|
|
|
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs)
|
rs763009188
|
|
|
NM_032043.3(BRIP1):c.2913A>G (p.Pro971=)
|
rs1603275716
|
|
|
NM_032043.3(BRIP1):c.2914G>C (p.Val972Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2915T>G (p.Val972Gly)
|
|
|
|
NM_032043.3(BRIP1):c.2916A>G (p.Val972=)
|
|
|
|
NM_032043.3(BRIP1):c.2916_2917del (p.Phe973fs)
|
|
|
|
NM_032043.3(BRIP1):c.2917T>A (p.Phe973Ile)
|
rs1060501727
|
|
|
NM_032043.3(BRIP1):c.2917T>G (p.Phe973Val)
|
rs1060501727
|
|
|
NM_032043.3(BRIP1):c.2919C>T (p.Phe973=)
|
|
|
|
NM_032043.3(BRIP1):c.291C>A (p.Asn97Lys)
|
rs766561078
|
|
|
NM_032043.3(BRIP1):c.291C>T (p.Asn97=)
|
rs766561078
|
|
|
NM_032043.3(BRIP1):c.2920C>T (p.Leu974=)
|
|
|
|
NM_032043.3(BRIP1):c.2920dup (p.Leu974fs)
|
|
|
|
NM_032043.3(BRIP1):c.2923G>C (p.Glu975Gln)
|
rs1603275707
|
|
|
NM_032043.3(BRIP1):c.2923dup (p.Glu975fs)
|
rs2061326585
|
|
|
NM_032043.3(BRIP1):c.2929G>A (p.Ala977Thr)
|
rs864622628
|
|
|
NM_032043.3(BRIP1):c.2929G>C (p.Ala977Pro)
|
rs864622628
|
|
|
NM_032043.3(BRIP1):c.2929G>T (p.Ala977Ser)
|
rs864622628
|
|
|
NM_032043.3(BRIP1):c.292_293del (p.Asn97_Asn98insTer)
|
rs2145828926
|
|
|
NM_032043.3(BRIP1):c.2932G>A (p.Gly978Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2932G>C (p.Gly978Arg)
|
rs2061326304
|
|
|
NM_032043.3(BRIP1):c.2938G>C (p.Ala980Pro)
|
rs2061325944
|
|
|
NM_032043.3(BRIP1):c.2939C>A (p.Ala980Glu)
|
|
|
|
NM_032043.3(BRIP1):c.2940A>C (p.Ala980=)
|
rs1603275683
|
|
|
NM_032043.3(BRIP1):c.2940A>G (p.Ala980=)
|
|
|
|
NM_032043.3(BRIP1):c.2944A>G (p.Lys982Glu)
|
rs1316369686
|
|
|
NM_032043.3(BRIP1):c.2946A>T (p.Lys982Asn)
|
rs2144093397
|
|
|
NM_032043.3(BRIP1):c.2947A>G (p.Ile983Val)
|
rs755337038
|
|
|
NM_032043.3(BRIP1):c.2947A>T (p.Ile983Phe)
|
rs755337038
|
|
|
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)
|
rs774684620
|
|
|
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs)
|
rs774684620
|
|
|
NM_032043.3(BRIP1):c.2948T>C (p.Ile983Thr)
|
rs587781417
|
|
|
NM_032043.3(BRIP1):c.2949T>G (p.Ile983Met)
|
rs746715917
|
|
|
NM_032043.3(BRIP1):c.294T>C (p.Asn98=)
|
rs1555617859
|
|
|
NM_032043.3(BRIP1):c.294T>G (p.Asn98Lys)
|
rs1555617859
|
|
|
NM_032043.3(BRIP1):c.2950G>A (p.Val984Met)
|
rs2061325330
|
|
|
NM_032043.3(BRIP1):c.2950G>T (p.Val984Leu)
|
rs2061325330
|
|
|
NM_032043.3(BRIP1):c.2950_3019del (p.Val984fs)
|
|
|
|
NM_032043.3(BRIP1):c.2953A>G (p.Ile985Val)
|
|
|
|
NM_032043.3(BRIP1):c.2954T>C (p.Ile985Thr)
|
|
|
|
NM_032043.3(BRIP1):c.2958C>T (p.Ser986=)
|
rs1603275662
|
|
|
NM_032043.3(BRIP1):c.2959A>C (p.Arg987=)
|
rs1603275660
|
|
|
NM_032043.3(BRIP1):c.295G>A (p.Asp99Asn)
|
rs1603366321
|
|
|
NM_032043.3(BRIP1):c.2961A>C (p.Arg987Ser)
|
rs1567729555
|
|
|
NM_032043.3(BRIP1):c.2962T>C (p.Ser988Pro)
|
rs2061324880
|
|
|
NM_032043.3(BRIP1):c.2962del (p.Ser988fs)
|
rs2061324917
|
|
|
NM_032043.3(BRIP1):c.2963C>T (p.Ser988Phe)
|
rs758032378
|
|
|
NM_032043.3(BRIP1):c.2964C>A (p.Ser988=)
|
|
|
|
NM_032043.3(BRIP1):c.2966C>G (p.Thr989Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2968_2971del (p.Ser990fs)
|
|
|
|
NM_032043.3(BRIP1):c.2969G>A (p.Ser990Asn)
|
rs2144092757
|
|
|
NM_032043.3(BRIP1):c.2970C>G (p.Ser990Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2970C>T (p.Ser990=)
|
rs1603275650
|
|
|
NM_032043.3(BRIP1):c.2972C>G (p.Pro991Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2972C>T (p.Pro991Leu)
|
rs2061324725
|
|
|
NM_032043.3(BRIP1):c.2973A>G (p.Pro991=)
|
|
|
|
NM_032043.3(BRIP1):c.2974A>T (p.Thr992Ser)
|
rs1276811545
|
|
|
NM_032043.3(BRIP1):c.2975C>A (p.Thr992Asn)
|
rs2061324557
|
|
|
NM_032043.3(BRIP1):c.2975C>T (p.Thr992Ile)
|
rs2061324557
|
|
|
NM_032043.3(BRIP1):c.2978T>A (p.Phe993Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.2978dup (p.Asn994fs)
|
rs2144092520
|
|
|
NM_032043.3(BRIP1):c.2979C>T (p.Phe993=)
|
|
|
|
NM_032043.3(BRIP1):c.2979_2980insTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT (p.Phe993_Asn994insPhePhePhePhePhePhePhePheXaaXaaXaaXaaTyrGluLeuIleIlePheTyrGlyCysIleValPheHisGlyValTyrValProHisPheLeu)
|
|
|
|
NM_032043.3(BRIP1):c.297C>G (p.Asp99Glu)
|
rs201617644
|
|
|
NM_032043.3(BRIP1):c.297_298del (p.Met100fs)
|
|
|
|
NM_032043.3(BRIP1):c.2982del (p.Asn994fs)
|
|
|
|
NM_032043.3(BRIP1):c.2983A>G (p.Lys995Glu)
|
rs1555572929
|
|
|
NM_032043.3(BRIP1):c.2985A>G (p.Lys995=)
|
|
|
|
NM_032043.3(BRIP1):c.2986C>G (p.Gln996Glu)
|
rs1567729513
|
|
|
NM_032043.3(BRIP1):c.2987A>G (p.Gln996Arg)
|
rs1603275641
|
|
|
NM_032043.3(BRIP1):c.298A>T (p.Met100Leu)
|
|
|
|
NM_032043.3(BRIP1):c.2990C>G (p.Thr997Arg)
|
|
|
|
NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile)
|
rs749978235
|
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
|
NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs)
|
rs771028677
|
|
|
NM_032043.3(BRIP1):c.2991A>C (p.Thr997=)
|
rs45466996
|
|
|
NM_032043.3(BRIP1):c.2991A>G (p.Thr997=)
|
rs45466996
|
|
|
NM_032043.3(BRIP1):c.2992A>G (p.Lys998Glu)
|
rs1603275633
|
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
|
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)
|
rs786203717
|
|
|
NM_032043.3(BRIP1):c.2994G>A (p.Lys998=)
|
rs757225144
|
|
|
NM_032043.3(BRIP1):c.2994G>C (p.Lys998Asn)
|
rs757225144
|
|
|
NM_032043.3(BRIP1):c.2995A>T (p.Arg999Ter)
|
|
|
|
NM_032043.3(BRIP1):c.2996G>T (p.Arg999Ile)
|
rs1603275620
|
|
|
NM_032043.3(BRIP1):c.299T>C (p.Met100Thr)
|
rs587782427
|
|
|
NM_032043.3(BRIP1):c.3002G>A (p.Ser1001Asn)
|
rs1603275610
|
|
|
NM_032043.3(BRIP1):c.3002G>C (p.Ser1001Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3003C>T (p.Ser1001=)
|
rs2144091676
|
|
|
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)
|
rs763443434
|
|
|
NM_032043.3(BRIP1):c.3005G>A (p.Trp1002Ter)
|
|
|
|
NM_032043.3(BRIP1):c.3005G>C (p.Trp1002Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3009A>C (p.Ser1003=)
|
|
|
|
NM_032043.3(BRIP1):c.3009A>G (p.Ser1003=)
|
rs751823379
|
|
|
NM_032043.3(BRIP1):c.3015T>C (p.Phe1005=)
|
|
|
|
NM_032043.3(BRIP1):c.3015dup (p.Asn1006Ter)
|
rs1603275598
|
|
|
NM_032043.3(BRIP1):c.3017A>G (p.Asn1006Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3018T>C (p.Asn1006=)
|
|
|
|
NM_032043.3(BRIP1):c.301A>G (p.Asn101Asp)
|
rs2145828545
|
|
|
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr)
|
rs886053214
|
|
|
NM_032043.3(BRIP1):c.3022T>A (p.Leu1008Met)
|
rs1165704345
|
|
|
NM_032043.3(BRIP1):c.3022T>C (p.Leu1008=)
|
|
|
|
NM_032043.3(BRIP1):c.3022_3047del (p.Leu1008fs)
|
|
|
|
NM_032043.3(BRIP1):c.3023T>C (p.Leu1008Ser)
|
rs2061323067
|
|
|
NM_032043.3(BRIP1):c.3023_3024insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGTAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGATACTAATTCTTT (p.Leu1008fs)
|
rs2144091036
|
|
|
NM_032043.3(BRIP1):c.3023dup (p.Leu1008fs)
|
rs2144091008
|
|
|
NM_032043.3(BRIP1):c.3025G>A (p.Gly1009Arg)
|
rs587781328
|
|
|
NM_032043.3(BRIP1):c.3025G>C (p.Gly1009Arg)
|
rs587781328
|
|
|
NM_032043.3(BRIP1):c.3026G>A (p.Gly1009Glu)
|
rs1555572908
|
|
|
NM_032043.3(BRIP1):c.3026G>T (p.Gly1009Val)
|
rs1555572908
|
|
|
NM_032043.3(BRIP1):c.3027A>G (p.Gly1009=)
|
rs786201171
|
|
|
NM_032043.3(BRIP1):c.3028C>T (p.Gln1010Ter)
|
|
|
|
NM_032043.3(BRIP1):c.3030G>A (p.Gln1010=)
|
|
|
|
NM_032043.3(BRIP1):c.3031T>C (p.Tyr1011His)
|
rs1567729362
|
|
|
NM_032043.3(BRIP1):c.3039T>A (p.Thr1013=)
|
rs863224803
|
|
|
NM_032043.3(BRIP1):c.3039T>C (p.Thr1013=)
|
rs863224803
|
|
|
NM_032043.3(BRIP1):c.3039del (p.Gly1014fs)
|
rs2144090521
|
|
|
NM_032043.3(BRIP1):c.303C>A (p.Asn101Lys)
|
|
|
|
NM_032043.3(BRIP1):c.303C>T (p.Asn101=)
|
rs1425170841
|
|
|
NM_032043.3(BRIP1):c.303_309del (p.Asn101fs)
|
|
|
|
NM_032043.3(BRIP1):c.3041G>A (p.Gly1014Asp)
|
rs876659757
|
|
|
NM_032043.3(BRIP1):c.3041G>C (p.Gly1014Ala)
|
rs876659757
|
|
|
NM_032043.3(BRIP1):c.3044A>G (p.Lys1015Arg)
|
rs1006002613
|
|
|
NM_032043.3(BRIP1):c.3047T>G (p.Ile1016Arg)
|
rs2061322186
|
|
|
NM_032043.3(BRIP1):c.3048A>G (p.Ile1016Met)
|
|
|
|
NM_032043.3(BRIP1):c.304C>T (p.Gln102Ter)
|
|
|
|
NM_032043.3(BRIP1):c.3053A>G (p.Lys1018Arg)
|
rs2061321875
|
|
|
NM_032043.3(BRIP1):c.3053del (p.Lys1018fs)
|
rs2144090014
|
|
|
NM_032043.3(BRIP1):c.3054G>A (p.Lys1018=)
|
|
|
|
NM_032043.3(BRIP1):c.3055G>A (p.Ala1019Thr)
|
rs1603275556
|
|
|
NM_032043.3(BRIP1):c.3056C>T (p.Ala1019Val)
|
rs1555572884
|
|
|
NM_032043.3(BRIP1):c.305A>G (p.Gln102Arg)
|
rs1484234707
|
|
|
NM_032043.3(BRIP1):c.305A>T (p.Gln102Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3061C>T (p.Pro1021Ser)
|
rs1555572880
|
|
|
NM_032043.3(BRIP1):c.3063T>C (p.Pro1021=)
|
rs2061321607
|
|
|
NM_032043.3(BRIP1):c.3063T>G (p.Pro1021=)
|
|
|
|
NM_032043.3(BRIP1):c.3064G>C (p.Glu1022Gln)
|
rs587782808
|
|
|
NM_032043.3(BRIP1):c.3065A>T (p.Glu1022Val)
|
rs2144089594
|
|
|
NM_032043.3(BRIP1):c.3068T>C (p.Leu1023Pro)
|
rs747345595
|
|
|
NM_032043.3(BRIP1):c.3069C>G (p.Leu1023=)
|
rs61754142
|
|
|
NM_032043.3(BRIP1):c.306A>G (p.Gln102=)
|
|
|
|
NM_032043.3(BRIP1):c.3070G>C (p.Gly1024Arg)
|
rs147119272
|
|
|
NM_032043.3(BRIP1):c.3072G>A (p.Gly1024=)
|
rs778500245
|
|
|
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs)
|
rs1342519012
|
|
|
NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter)
|
rs1603275526
|
|
|
NM_032043.3(BRIP1):c.3075A>C (p.Ser1025=)
|
rs1060504319
|
|
|
NM_032043.3(BRIP1):c.3075A>G (p.Ser1025=)
|
rs1060504319
|
|
|
NM_032043.3(BRIP1):c.3076T>C (p.Ser1026Pro)
|
rs756712872
|
|
|
NM_032043.3(BRIP1):c.3078A>G (p.Ser1026=)
|
rs786201657
|
|
|
NM_032043.3(BRIP1):c.307G>A (p.Gly103Arg)
|
rs777068696
|
|
|
NM_032043.3(BRIP1):c.3080A>C (p.Glu1027Ala)
|
rs863224804
|
|
|
NM_032043.3(BRIP1):c.3081G>A (p.Glu1027=)
|
rs777660106
|
|
|
NM_032043.3(BRIP1):c.3082A>G (p.Asn1028Asp)
|
|
|
|
NM_032043.3(BRIP1):c.3083A>C (p.Asn1028Thr)
|
rs1060501762
|
|
|
NM_032043.3(BRIP1):c.3083A>G (p.Asn1028Ser)
|
rs1060501762
|
|
|
NM_032043.3(BRIP1):c.3084T>C (p.Asn1028=)
|
rs1424179519
|
|
|
NM_032043.3(BRIP1):c.3084T>G (p.Asn1028Lys)
|
rs1424179519
|
|
|
NM_032043.3(BRIP1):c.3086G>A (p.Ser1029Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3086del (p.Ser1029fs)
|
|
|
|
NM_032043.3(BRIP1):c.3087T>C (p.Ser1029=)
|
rs1555572848
|
|
|
NM_032043.3(BRIP1):c.3088_3096dup (p.Ala1030_Ser1032dup)
|
rs1187782159
|
|
|
NM_032043.3(BRIP1):c.3089C>T (p.Ala1030Val)
|
rs767255426
|
|
|
NM_032043.3(BRIP1):c.308del (p.Gly103fs)
|
rs1555617834
|
|
|
NM_032043.3(BRIP1):c.3090C>T (p.Ala1030=)
|
|
|
|
NM_032043.3(BRIP1):c.3095G>A (p.Ser1032Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3097C>T (p.Pro1033Ser)
|
rs876659119
|
|
|
NM_032043.3(BRIP1):c.30del (p.Ile10fs)
|
rs1567878234
|
|
|
NM_032043.3(BRIP1):c.3100C>A (p.Pro1034Thr)
|
rs765416041
|
|
|
NM_032043.3(BRIP1):c.3102C>T (p.Pro1034=)
|
rs2144088075
|
|
|
NM_032043.3(BRIP1):c.3104G>C (p.Arg1035Pro)
|
rs367816363
|
|
|
NM_032043.3(BRIP1):c.310A>G (p.Thr104Ala)
|
rs2145828204
|
|
|
NM_032043.3(BRIP1):c.3111A>G (p.Lys1037=)
|
|
|
|
NM_032043.3(BRIP1):c.3112A>G (p.Thr1038Ala)
|
rs2061319595
|
|
|
NM_032043.3(BRIP1):c.3113C>G (p.Thr1038Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3113C>T (p.Thr1038Ile)
|
rs2061319540
|
|
|
NM_032043.3(BRIP1):c.3114A>T (p.Thr1038=)
|
|
|
|
NM_032043.3(BRIP1):c.3116A>G (p.Glu1039Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3117G>A (p.Glu1039=)
|
rs769310105
|
|
|
NM_032043.3(BRIP1):c.3117_3118del (p.Lys1040fs)
|
|
|
|
NM_032043.3(BRIP1):c.3118A>C (p.Lys1040Gln)
|
rs876659428
|
|
|
NM_032043.3(BRIP1):c.3118A>G (p.Lys1040Glu)
|
rs876659428
|
|
|
NM_032043.3(BRIP1):c.3120G>A (p.Lys1040=)
|
rs2144087482
|
|
|
NM_032043.3(BRIP1):c.3121A>G (p.Met1041Val)
|
rs1555572831
|
|
|
NM_032043.3(BRIP1):c.3121A>T (p.Met1041Leu)
|
rs1555572831
|
|
|
NM_032043.3(BRIP1):c.3124G>A (p.Glu1042Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3125A>G (p.Glu1042Gly)
|
rs1555572828
|
|
|
NM_032043.3(BRIP1):c.3126A>G (p.Glu1042=)
|
rs2061319012
|
|
|
NM_032043.3(BRIP1):c.3127del (p.Ser1043fs)
|
rs2061318961
|
|
|
NM_032043.3(BRIP1):c.3128G>A (p.Ser1043Asn)
|
rs1555572825
|
|
|
NM_032043.3(BRIP1):c.3129T>C (p.Ser1043=)
|
|
|
|
NM_032043.3(BRIP1):c.312T>C (p.Thr104=)
|
|
|
|
NM_032043.3(BRIP1):c.3134C>G (p.Thr1045Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3135T>C (p.Thr1045=)
|
|
|
|
NM_032043.3(BRIP1):c.3136G>A (p.Val1046Ile)
|
rs1555572824
|
|
|
NM_032043.3(BRIP1):c.3136G>C (p.Val1046Leu)
|
rs1555572824
|
|
|
NM_032043.3(BRIP1):c.3136_3137del (p.Val1046fs)
|
|
|
|
NM_032043.3(BRIP1):c.3141G>A (p.Leu1047=)
|
|
|
|
NM_032043.3(BRIP1):c.3141G>T (p.Leu1047Phe)
|
|
|
|
NM_032043.3(BRIP1):c.3143C>T (p.Pro1048Leu)
|
rs896510433
|
|
|
NM_032043.3(BRIP1):c.3148A>G (p.Thr1050Ala)
|
rs1567728933
|
|
|
NM_032043.3(BRIP1):c.3149C>G (p.Thr1050Ser)
|
|
|
|
NM_032043.3(BRIP1):c.314C>A (p.Ser105Ter)
|
|
|
|
NM_032043.3(BRIP1):c.314C>G (p.Ser105Ter)
|
rs1555617829
|
|
|
NM_032043.3(BRIP1):c.3150T>G (p.Thr1050=)
|
rs1603275447
|
|
|
NM_032043.3(BRIP1):c.3155A>G (p.Lys1052Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3156A>G (p.Lys1052=)
|
|
|
|
NM_032043.3(BRIP1):c.3157T>C (p.Cys1053Arg)
|
rs2061318138
|
|
|
NM_032043.3(BRIP1):c.315A>C (p.Ser105=)
|
|
|
|
NM_032043.3(BRIP1):c.315A>T (p.Ser105=)
|
rs1555617827
|
|
|
NM_032043.3(BRIP1):c.3162A>G (p.Glu1054=)
|
rs2144086078
|
|
|
NM_032043.3(BRIP1):c.3163T>A (p.Ser1055Thr)
|
rs2144086036
|
|
|
NM_032043.3(BRIP1):c.3163T>C (p.Ser1055Pro)
|
|
|
|
NM_032043.3(BRIP1):c.3164C>A (p.Ser1055Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.3165C>G (p.Ser1055=)
|
rs1447544706
|
|
|
NM_032043.3(BRIP1):c.3165C>T (p.Ser1055=)
|
rs1447544706
|
|
|
NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter)
|
rs1603275438
|
|
|
NM_032043.3(BRIP1):c.3167del (p.Ser1055_Ser1056insTer)
|
|
|
|
NM_032043.3(BRIP1):c.3169A>G (p.Asn1057Asp)
|
rs2144085839
|
|
|
NM_032043.3(BRIP1):c.316C>A (p.Arg106Ser)
|
rs587780247
|
|
|
NM_032043.3(BRIP1):c.3171T>C (p.Asn1057=)
|
|
|
|
NM_032043.3(BRIP1):c.3171T>G (p.Asn1057Lys)
|
rs2061317850
|
|
|
NM_032043.3(BRIP1):c.3172C>G (p.Leu1058Val)
|
rs2061317781
|
|
|
NM_032043.3(BRIP1):c.3173T>G (p.Leu1058Arg)
|
rs2144085714
|
|
|
NM_032043.3(BRIP1):c.3174G>C (p.Leu1058=)
|
rs1555572806
|
|
|
NM_032043.3(BRIP1):c.3174G>T (p.Leu1058=)
|
|
|
|
NM_032043.3(BRIP1):c.3176C>G (p.Thr1059Arg)
|
rs1400975728
|
|
|
NM_032043.3(BRIP1):c.3181A>C (p.Asn1061His)
|
rs778430337
|
|
|
NM_032043.3(BRIP1):c.3181A>G (p.Asn1061Asp)
|
rs778430337
|
|
|
NM_032043.3(BRIP1):c.3183C>T (p.Asn1061=)
|
rs1555572792
|
|
|
NM_032043.3(BRIP1):c.3185C>T (p.Thr1062Ile)
|
rs770517912
|
|
|
NM_032043.3(BRIP1):c.3186A>G (p.Thr1062=)
|
|
|
|
NM_032043.3(BRIP1):c.3187del (p.Ser1063fs)
|
|
|
|
NM_032043.3(BRIP1):c.3189G>A (p.Ser1063=)
|
rs878855152
|
|
|
NM_032043.3(BRIP1):c.3189G>C (p.Ser1063=)
|
|
|
|
NM_032043.3(BRIP1):c.318T>A (p.Arg106=)
|
rs772283705
|
|
|
NM_032043.3(BRIP1):c.318T>C (p.Arg106=)
|
rs772283705
|
|
|
NM_032043.3(BRIP1):c.318del (p.His107fs)
|
|
|
|
NM_032043.3(BRIP1):c.3192T>G (p.Phe1064Leu)
|
rs2144084979
|
|
|
NM_032043.3(BRIP1):c.3196T>A (p.Ser1066Thr)
|
rs1199327421
|
|
|
NM_032043.3(BRIP1):c.3196T>C (p.Ser1066Pro)
|
rs1199327421
|
|
|
NM_032043.3(BRIP1):c.3199T>C (p.Cys1067Arg)
|
rs878855153
|
|
|
NM_032043.3(BRIP1):c.319C>T (p.His107Tyr)
|
rs2078907400
|
|
|
NM_032043.3(BRIP1):c.3200G>T (p.Cys1067Phe)
|
rs2144084686
|
|
|
NM_032043.3(BRIP1):c.3201C>T (p.Cys1067=)
|
rs1477019492
|
|
|
NM_032043.3(BRIP1):c.3203C>G (p.Pro1068Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3204T>C (p.Pro1068=)
|
rs2144084552
|
|
|
NM_032043.3(BRIP1):c.3205C>G (p.Gln1069Glu)
|
rs2061316417
|
|
|
NM_032043.3(BRIP1):c.3207A>G (p.Gln1069=)
|
rs1555572778
|
|
|
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)
|
rs748598593
|
|
|
NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter)
|
rs777213170
|
|
|
NM_032043.3(BRIP1):c.320A>C (p.His107Pro)
|
rs876659809
|
|
|
NM_032043.3(BRIP1):c.3210A>C (p.Ser1070=)
|
rs1555572773
|
|
|
NM_032043.3(BRIP1):c.3210A>G (p.Ser1070=)
|
|
|
|
NM_032043.3(BRIP1):c.3214A>G (p.Thr1072Ala)
|
rs756074244
|
|
|
NM_032043.3(BRIP1):c.3215C>A (p.Thr1072Asn)
|
rs786204068
|
|
|
NM_032043.3(BRIP1):c.3216C>T (p.Thr1072=)
|
|
|
|
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer)
|
rs1603275367
|
|
|
NM_032043.3(BRIP1):c.321_337del (p.Phe108fs)
|
rs1603366250
|
|
|
NM_032043.3(BRIP1):c.3221T>C (p.Ile1074Thr)
|
rs1219988835
|
|
|
NM_032043.3(BRIP1):c.3223T>A (p.Ser1075Thr)
|
rs368867532
|
|
|
NM_032043.3(BRIP1):c.3225A>G (p.Ser1075=)
|
rs1291039468
|
|
|
NM_032043.3(BRIP1):c.3225A>T (p.Ser1075=)
|
rs1291039468
|
|
|
NM_032043.3(BRIP1):c.3227C>T (p.Ser1076Leu)
|
rs864622113
|
|
|
NM_032043.3(BRIP1):c.3228A>G (p.Ser1076=)
|
|
|
|
NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter)
|
rs786202927
|
|
|
NM_032043.3(BRIP1):c.3233A>C (p.Lys1078Thr)
|
rs1603275371
|
|
|
NM_032043.3(BRIP1):c.3234G>T (p.Lys1078Asn)
|
rs570238270
|
|
|
NM_032043.3(BRIP1):c.3238G>C (p.Asp1080His)
|
rs786204230
|
|
|
NM_032043.3(BRIP1):c.3238G>T (p.Asp1080Tyr)
|
rs786204230
|
|
|
NM_032043.3(BRIP1):c.3240T>C (p.Asp1080=)
|
rs1603275354
|
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
|
|
NM_032043.3(BRIP1):c.3241G>A (p.Ala1081Thr)
|
rs1567728640
|
|
|
NM_032043.3(BRIP1):c.3242C>T (p.Ala1081Val)
|
rs1555572749
|
|
|
NM_032043.3(BRIP1):c.3243C>A (p.Ala1081=)
|
|
|
|
NM_032043.3(BRIP1):c.3245C>A (p.Thr1082Asn)
|
rs1603275338
|
|
|
NM_032043.3(BRIP1):c.3245C>G (p.Thr1082Ser)
|
rs1603275338
|
|
|
NM_032043.3(BRIP1):c.3246C>A (p.Thr1082=)
|
|
|
|
NM_032043.3(BRIP1):c.3246C>T (p.Thr1082=)
|
rs2144083106
|
|
|
NM_032043.3(BRIP1):c.324C>G (p.Phe108Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3253_3254delinsGT (p.Arg1085Val)
|
rs2061314506
|
|
|
NM_032043.3(BRIP1):c.3254G>C (p.Arg1085Thr)
|
rs1567728589
|
|
|
NM_032043.3(BRIP1):c.3256A>G (p.Lys1086Glu)
|
|
|
|
NM_032043.3(BRIP1):c.325A>G (p.Asn109Asp)
|
rs2078907245
|
|
|
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs)
|
rs771654971
|
|
|
NM_032043.3(BRIP1):c.3261T>C (p.Asn1087=)
|
|
|
|
NM_032043.3(BRIP1):c.3261T>G (p.Asn1087Lys)
|
rs1567728557
|
|
|
NM_032043.3(BRIP1):c.3263A>G (p.His1088Arg)
|
rs2061314121
|
|
|
NM_032043.3(BRIP1):c.3265T>G (p.Ser1089Ala)
|
rs764205156
|
|
|
NM_032043.3(BRIP1):c.3266C>G (p.Ser1089Cys)
|
rs761278503
|
|
|
NM_032043.3(BRIP1):c.3266C>T (p.Ser1089Phe)
|
rs761278503
|
|
|
NM_032043.3(BRIP1):c.3267T>C (p.Ser1089=)
|
rs876658543
|
|
|
NM_032043.3(BRIP1):c.3267T>G (p.Ser1089=)
|
rs876658543
|
|
|
NM_032043.3(BRIP1):c.3270A>G (p.Glu1090=)
|
rs1358278249
|
|
|
NM_032043.3(BRIP1):c.3271C>T (p.His1091Tyr)
|
rs1555572732
|
|
|
NM_032043.3(BRIP1):c.3273T>C (p.His1091=)
|
|
|
|
NM_032043.3(BRIP1):c.3274C>A (p.Pro1092Thr)
|
rs768065626
|
|
|
NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln)
|
rs587780830
|
|
|
NM_032043.3(BRIP1):c.3275C>G (p.Pro1092Arg)
|
rs587780830
|
|
|
NM_032043.3(BRIP1):c.3276G>C (p.Pro1092=)
|
rs375911315
|
|
|
NM_032043.3(BRIP1):c.3276G>T (p.Pro1092=)
|
rs375911315
|
|
|
NM_032043.3(BRIP1):c.3277C>G (p.Leu1093Val)
|
rs876660638
|
|
|
NM_032043.3(BRIP1):c.3277C>T (p.Leu1093Phe)
|
rs876660638
|
|
|
NM_032043.3(BRIP1):c.3279C>G (p.Leu1093=)
|
rs1555572722
|
|
|
NM_032043.3(BRIP1):c.3279C>T (p.Leu1093=)
|
|
|
|
NM_032043.3(BRIP1):c.327C>T (p.Asn109=)
|
|
|
|
NM_032043.3(BRIP1):c.3283T>C (p.Ser1095Pro)
|
rs2061313248
|
|
|
NM_032043.3(BRIP1):c.3284C>T (p.Ser1095Phe)
|
rs1479296707
|
|
|
NM_032043.3(BRIP1):c.3285T>C (p.Ser1095=)
|
rs774105218
|
|
|
NM_032043.3(BRIP1):c.3287AAG[3] (p.Glu1097dup)
|
rs1603275271
|
|
|
NM_032043.3(BRIP1):c.3289G>T (p.Glu1097Ter)
|
rs770509300
|
|
|
NM_032043.3(BRIP1):c.328T>C (p.Tyr110His)
|
rs1555617821
|
|
|
NM_032043.3(BRIP1):c.3290A>G (p.Glu1097Gly)
|
rs876658746
|
|
|
NM_032043.3(BRIP1):c.3291A>G (p.Glu1097=)
|
rs2061312881
|
|
|
NM_032043.3(BRIP1):c.3292G>T (p.Ala1098Ser)
|
rs1034545913
|
|
|
NM_032043.3(BRIP1):c.3292_3302delinsTTGTCTCTGGATCCAG (p.Ala1098fs)
|
rs1555572707
|
|
|
NM_032043.3(BRIP1):c.3293C>A (p.Ala1098Asp)
|
rs1361161166
|
|
|
NM_032043.3(BRIP1):c.3293C>T (p.Ala1098Val)
|
|
|
|
NM_032043.3(BRIP1):c.3294C>T (p.Ala1098=)
|
rs748928248
|
|
|
NM_032043.3(BRIP1):c.3295C>T (p.Leu1099=)
|
|
|
|
NM_032043.3(BRIP1):c.3297G>A (p.Leu1099=)
|
|
|
|
NM_032043.3(BRIP1):c.3298G>C (p.Asp1100His)
|
rs587781923
|
|
|
NM_032043.3(BRIP1):c.3298G>T (p.Asp1100Tyr)
|
rs587781923
|
|
|
NM_032043.3(BRIP1):c.3299A>T (p.Asp1100Val)
|
rs864622072
|
|
|
NM_032043.3(BRIP1):c.3301C>T (p.Pro1101Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3302C>T (p.Pro1101Leu)
|
rs2061312470
|
|
|
NM_032043.3(BRIP1):c.3305A>G (p.Asp1102Gly)
|
rs748140041
|
|
|
NM_032043.3(BRIP1):c.3307A>G (p.Ile1103Val)
|
rs1555572700
|
|
|
NM_032043.3(BRIP1):c.3309T>C (p.Ile1103=)
|
rs1603275246
|
|
|
NM_032043.3(BRIP1):c.330T>G (p.Tyr110Ter)
|
|
|
|
NM_032043.3(BRIP1):c.3310G>T (p.Glu1104Ter)
|
rs1555572698
|
|
|
NM_032043.3(BRIP1):c.3311A>T (p.Glu1104Val)
|
rs1567728360
|
|
|
NM_032043.3(BRIP1):c.3312A>G (p.Glu1104=)
|
rs1555572697
|
|
|
NM_032043.3(BRIP1):c.3312A>T (p.Glu1104Asp)
|
rs1555572697
|
|
|
NM_032043.3(BRIP1):c.3315G>A (p.Leu1105=)
|
|
|
|
NM_032043.3(BRIP1):c.3315G>T (p.Leu1105Phe)
|
rs1603275236
|
|
|
NM_032043.3(BRIP1):c.3318T>G (p.Ser1106=)
|
|
|
|
NM_032043.3(BRIP1):c.3319C>T (p.Leu1107=)
|
|
|
|
NM_032043.3(BRIP1):c.3320T>C (p.Leu1107Pro)
|
|
|
|
NM_032043.3(BRIP1):c.3321A>G (p.Leu1107=)
|
rs1603275229
|
|
|
NM_032043.3(BRIP1):c.3322G>A (p.Val1108Ile)
|
rs1275343223
|
|
|
NM_032043.3(BRIP1):c.3323T>G (p.Val1108Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3324A>T (p.Val1108=)
|
|
|
|
NM_032043.3(BRIP1):c.3324_3325insT (p.Ser1109Ter)
|
|
|
|
NM_032043.3(BRIP1):c.3328G>A (p.Glu1110Lys)
|
rs1060501774
|
|
|
NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter)
|
rs1060501774
|
|
|
NM_032043.3(BRIP1):c.3329A>G (p.Glu1110Gly)
|
rs1060501742
|
|
|
NM_032043.3(BRIP1):c.332C>T (p.Pro111Leu)
|
rs201790351
|
|
|
NM_032043.3(BRIP1):c.332dup (p.Ser112fs)
|
|
|
|
NM_032043.3(BRIP1):c.3330A>G (p.Glu1110=)
|
rs2061311198
|
|
|
NM_032043.3(BRIP1):c.3331G>A (p.Glu1111Lys)
|
rs587780248
|
|
|
NM_032043.3(BRIP1):c.3332A>T (p.Glu1111Val)
|
rs2061311057
|
|
|
NM_032043.3(BRIP1):c.3334G>A (p.Asp1112Asn)
|
rs968860042
|
|
|
NM_032043.3(BRIP1):c.3336T>A (p.Asp1112Glu)
|
rs369843642
|
|
|
NM_032043.3(BRIP1):c.3337A>C (p.Lys1113Gln)
|
|
|
|
NM_032043.3(BRIP1):c.3337A>G (p.Lys1113Glu)
|
rs2061310712
|
|
|
NM_032043.3(BRIP1):c.3339A>G (p.Lys1113=)
|
|
|
|
NM_032043.3(BRIP1):c.333A>C (p.Pro111=)
|
|
|
|
NM_032043.3(BRIP1):c.333A>G (p.Pro111=)
|
|
|
|
NM_032043.3(BRIP1):c.3340C>G (p.Gln1114Glu)
|
|
|
|
NM_032043.3(BRIP1):c.3340C>T (p.Gln1114Ter)
|
rs1555572681
|
|
|
NM_032043.3(BRIP1):c.3341A>C (p.Gln1114Pro)
|
|
|
|
NM_032043.3(BRIP1):c.3342G>C (p.Gln1114His)
|
rs2144079516
|
|
|
NM_032043.3(BRIP1):c.3343T>A (p.Ser1115Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3343T>C (p.Ser1115Pro)
|
rs1567728281
|
|
|
NM_032043.3(BRIP1):c.3344C>A (p.Ser1115Tyr)
|
rs1419933310
|
|
|
NM_032043.3(BRIP1):c.3344C>G (p.Ser1115Cys)
|
rs1419933310
|
|
|
NM_032043.3(BRIP1):c.3344C>T (p.Ser1115Phe)
|
rs1419933310
|
|
|
NM_032043.3(BRIP1):c.3345C>A (p.Ser1115=)
|
rs2144079396
|
|
|
NM_032043.3(BRIP1):c.3345C>T (p.Ser1115=)
|
rs2144079396
|
|
|
NM_032043.3(BRIP1):c.3346A>G (p.Thr1116Ala)
|
|
|
|
NM_032043.3(BRIP1):c.3349del (p.Ser1117fs)
|
|
|
|
NM_032043.3(BRIP1):c.3350C>T (p.Ser1117Leu)
|
rs1555572672
|
|
|
NM_032043.3(BRIP1):c.3351A>G (p.Ser1117=)
|
rs2144079200
|
|
|
NM_032043.3(BRIP1):c.3352A>G (p.Asn1118Asp)
|
rs2061310251
|
|
|
NM_032043.3(BRIP1):c.3353A>G (p.Asn1118Ser)
|
rs1060501773
|
|
|
NM_032043.3(BRIP1):c.3356G>C (p.Arg1119Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3357A>G (p.Arg1119=)
|
|
|
|
NM_032043.3(BRIP1):c.3358G>A (p.Asp1120Asn)
|
rs1555572663
|
|
|
NM_032043.3(BRIP1):c.3358G>C (p.Asp1120His)
|
|
|
|
NM_032043.3(BRIP1):c.3358_3359del (p.Asp1120fs)
|
rs1603275179
|
|
|
NM_032043.3(BRIP1):c.335G>A (p.Ser112Asn)
|
rs1555617813
|
|
|
NM_032043.3(BRIP1):c.3360T>C (p.Asp1120=)
|
rs876660747
|
|
|
NM_032043.3(BRIP1):c.3364G>C (p.Glu1122Gln)
|
|
|
|
NM_032043.3(BRIP1):c.3365A>G (p.Glu1122Gly)
|
rs2144078743
|
|
|
NM_032043.3(BRIP1):c.3367A>G (p.Thr1123Ala)
|
rs754056526
|
|
|
NM_032043.3(BRIP1):c.3368C>G (p.Thr1123Arg)
|
|
|
|
NM_032043.3(BRIP1):c.336C>T (p.Ser112=)
|
rs1603366251
|
|
|
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs)
|
rs1426528935
|
|
|
NM_032043.3(BRIP1):c.3371A>G (p.Glu1124Gly)
|
rs1064793894
|
|
|
NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del)
|
rs745344948
|
|
|
NM_032043.3(BRIP1):c.3375AGA[1] (p.Glu1126del)
|
|
|
|
NM_032043.3(BRIP1):c.3378A>G (p.Glu1126=)
|
rs145855459
|
|
|
NM_032043.3(BRIP1):c.3378A>T (p.Glu1126Asp)
|
rs145855459
|
|
|
NM_032043.3(BRIP1):c.3379G>C (p.Asp1127His)
|
rs2144078261
|
|
|
NM_032043.3(BRIP1):c.337A>C (p.Thr113Pro)
|
rs1555617812
|
|
|
NM_032043.3(BRIP1):c.3382G>A (p.Glu1128Lys)
|
rs45552539
|
|
|
NM_032043.3(BRIP1):c.3382G>C (p.Glu1128Gln)
|
rs45552539
|
|
|
NM_032043.3(BRIP1):c.3384A>G (p.Glu1128=)
|
rs868546317
|
|
|
NM_032043.3(BRIP1):c.3386_3387del (p.Ser1129fs)
|
rs2144077998
|
|
|
NM_032043.3(BRIP1):c.3387_3388insTT (p.Ile1130fs)
|
rs2061309076
|
|
|
NM_032043.3(BRIP1):c.3388A>T (p.Ile1130Phe)
|
rs786202549
|
|
|
NM_032043.3(BRIP1):c.3389T>C (p.Ile1130Thr)
|
rs1057522432
|
|
|
NM_032043.3(BRIP1):c.3390C>G (p.Ile1130Met)
|
rs2061308845
|
|
|
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)
|
rs778664039
|
|
|
NM_032043.3(BRIP1):c.3392A>G (p.Tyr1131Cys)
|
rs1567728145
|
|
|
NM_032043.3(BRIP1):c.3393T>C (p.Tyr1131=)
|
|
|
|
NM_032043.3(BRIP1):c.3396T>C (p.Phe1132=)
|
rs876659137
|
|
|
NM_032043.3(BRIP1):c.3396dup (p.Thr1133fs)
|
|
|
|
NM_032043.3(BRIP1):c.3397A>T (p.Thr1133Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3398C>T (p.Thr1133Ile)
|
rs1555572645
|
|
|
NM_032043.3(BRIP1):c.339A>C (p.Thr113=)
|
rs2078906632
|
|
|
NM_032043.3(BRIP1):c.339A>G (p.Thr113=)
|
rs2078906632
|
|
|
NM_032043.3(BRIP1):c.33T>A (p.Gly11=)
|
|
|
|
NM_032043.3(BRIP1):c.33T>C (p.Gly11=)
|
rs759187663
|
|
|
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs)
|
rs756853672
|
|
|
NM_032043.3(BRIP1):c.3402T>G (p.Pro1134=)
|
rs2061308538
|
|
|
NM_032043.3(BRIP1):c.3404A>G (p.Glu1135Gly)
|
rs1235908208
|
|
|
NM_032043.3(BRIP1):c.3404_3405insCAG (p.Glu1135delinsAspArg)
|
rs1603275121
|
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NM_032043.3(BRIP1):c.3405A>G (p.Glu1135=)
|
rs2144077304
|
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NM_032043.3(BRIP1):c.3406C>T (p.Leu1136Phe)
|
rs1555572626
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NM_032043.3(BRIP1):c.3407T>G (p.Leu1136Arg)
|
rs2061308258
|
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NM_032043.3(BRIP1):c.3409T>C (p.Tyr1137His)
|
rs2061308195
|
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NM_032043.3(BRIP1):c.340C>T (p.Pro114Ser)
|
rs2145827137
|
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NM_032043.3(BRIP1):c.3410_3411delinsGC (p.Tyr1137Cys)
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NM_032043.3(BRIP1):c.3411_3412delinsCC (p.Asp1138His)
|
rs1555572620
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NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr)
|
rs1555572620
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NM_032043.3(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer)
|
rs876660100
|
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NM_032043.3(BRIP1):c.3412G>A (p.Asp1138Asn)
|
rs587780249
|
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NM_032043.3(BRIP1):c.3412G>T (p.Asp1138Tyr)
|
rs587780249
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NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly)
|
rs1057518847
|
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NM_032043.3(BRIP1):c.3415C>T (p.Pro1139Ser)
|
rs1186451404
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NM_032043.3(BRIP1):c.3416C>T (p.Pro1139Leu)
|
rs1555572613
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NM_032043.3(BRIP1):c.341C>A (p.Pro114Gln)
|
rs876658965
|
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NM_032043.3(BRIP1):c.341C>T (p.Pro114Leu)
|
rs876658965
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NM_032043.3(BRIP1):c.3420dup (p.Asp1141fs)
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NM_032043.3(BRIP1):c.3422A>C (p.Asp1141Ala)
|
rs1034551306
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NM_032043.3(BRIP1):c.3422A>T (p.Asp1141Val)
|
rs1034551306
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NM_032043.3(BRIP1):c.3423T>C (p.Asp1141=)
|
rs2144076602
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NM_032043.3(BRIP1):c.3425C>G (p.Thr1142Arg)
|
rs1279318199
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NM_032043.3(BRIP1):c.3426A>G (p.Thr1142=)
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NM_032043.3(BRIP1):c.3427G>A (p.Asp1143Asn)
|
rs1217932471
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NM_032043.3(BRIP1):c.3428A>G (p.Asp1143Gly)
|
rs2061307264
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NM_032043.3(BRIP1):c.3429T>C (p.Asp1143=)
|
rs1315917374
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NM_032043.3(BRIP1):c.3429T>G (p.Asp1143Glu)
|
rs1315917374
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NM_032043.3(BRIP1):c.342A>G (p.Pro114=)
|
rs756764576
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NM_032043.3(BRIP1):c.3430G>A (p.Glu1144Lys)
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NM_032043.3(BRIP1):c.3430G>C (p.Glu1144Gln)
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NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly)
|
rs774605759
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NM_032043.3(BRIP1):c.3436A>G (p.Lys1146Glu)
|
rs786202247
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NM_032043.3(BRIP1):c.3437A>G (p.Lys1146Arg)
|
rs1567727955
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NM_032043.3(BRIP1):c.3437A>T (p.Lys1146Ile)
|
rs1567727955
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NM_032043.3(BRIP1):c.3439A>G (p.Asn1147Asp)
|
rs1258403817
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NM_032043.3(BRIP1):c.343C>T (p.Pro115Ser)
|
rs876659142
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NM_032043.3(BRIP1):c.3440dup (p.Asn1147fs)
|
rs753683450
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NM_032043.3(BRIP1):c.3441T>C (p.Asn1147=)
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NM_032043.3(BRIP1):c.3443A>G (p.Asp1148Gly)
|
rs2061306531
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NM_032043.3(BRIP1):c.3444C>T (p.Asp1148=)
|
rs28997573
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NM_032043.3(BRIP1):c.3447A>C (p.Leu1149=)
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NM_032043.3(BRIP1):c.3449C>G (p.Ala1150Gly)
|
rs1064796059
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NM_032043.3(BRIP1):c.3449C>T (p.Ala1150Val)
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NM_032043.3(BRIP1):c.344C>A (p.Pro115His)
|
rs1555617800
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NM_032043.3(BRIP1):c.344C>T (p.Pro115Leu)
|
rs1555617800
|
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NM_032043.3(BRIP1):c.3451G>A (p.Glu1151Lys)
|
rs1555572587
|
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NM_032043.3(BRIP1):c.3455_3467del (p.Thr1152fs)
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NM_032043.3(BRIP1):c.3458A>G (p.Asp1153Gly)
|
rs1603275027
|
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NM_032043.3(BRIP1):c.3461G>A (p.Arg1154Lys)
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NM_032043.3(BRIP1):c.3461G>C (p.Arg1154Thr)
|
rs1057522433
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NM_032043.3(BRIP1):c.3461_3462delinsAAG (p.Arg1154fs)
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NM_032043.3(BRIP1):c.3466A>G (p.Asn1156Asp)
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NM_032043.3(BRIP1):c.3467A>G (p.Asn1156Ser)
|
rs1603275008
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NM_032043.3(BRIP1):c.3472T>A (p.Leu1158Met)
|
rs1060504330
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NM_032043.3(BRIP1):c.3472T>C (p.Leu1158=)
|
rs1060504330
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NM_032043.3(BRIP1):c.3473T>G (p.Leu1158Trp)
|
rs876659655
|
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NM_032043.3(BRIP1):c.3475G>A (p.Ala1159Thr)
|
rs368610199
|
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NM_032043.3(BRIP1):c.3475G>C (p.Ala1159Pro)
|
rs368610199
|
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NM_032043.3(BRIP1):c.3475G>T (p.Ala1159Ser)
|
rs368610199
|
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NM_032043.3(BRIP1):c.3478A>G (p.Asn1160Asp)
|
rs2061305104
|
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NM_032043.3(BRIP1):c.347C>T (p.Ser116Phe)
|
rs748793974
|
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NM_032043.3(BRIP1):c.3480C>T (p.Asn1160=)
|
rs746898528
|
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NM_032043.3(BRIP1):c.3481_3489dup (p.Asn1161_Asp1163dup)
|
rs2061304922
|
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NM_032043.3(BRIP1):c.3488A>G (p.Asp1163Gly)
|
rs2061304985
|
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NM_032043.3(BRIP1):c.3489_3490delinsCG (p.Cys1164Gly)
|
rs2061304770
|
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NM_032043.3(BRIP1):c.3493A>T (p.Ile1165Phe)
|
rs771889454
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NM_032043.3(BRIP1):c.3496T>G (p.Leu1166Val)
|
rs2144073872
|
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NM_032043.3(BRIP1):c.3497T>C (p.Leu1166Ser)
|
rs2061304526
|
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NM_032043.3(BRIP1):c.3498A>G (p.Leu1166=)
|
rs1196759903
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NM_032043.3(BRIP1):c.3499G>C (p.Ala1167Pro)
|
rs1555572570
|
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NM_032043.3(BRIP1):c.349G>T (p.Glu117Ter)
|
rs786203890
|
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NM_032043.3(BRIP1):c.34G>A (p.Gly12Arg)
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NM_032043.3(BRIP1):c.3503A>C (p.Lys1168Thr)
|
rs749589266
|
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NM_032043.3(BRIP1):c.3504A>G (p.Lys1168=)
|
rs1259866317
|
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NM_032043.3(BRIP1):c.3504del (p.Asp1169fs)
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NM_032043.3(BRIP1):c.3506A>C (p.Asp1169Ala)
|
rs2061304201
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NM_032043.3(BRIP1):c.3507C>G (p.Asp1169Glu)
|
rs375741316
|
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NM_032043.3(BRIP1):c.3507C>T (p.Asp1169=)
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NM_032043.3(BRIP1):c.3508C>G (p.Leu1170Val)
|
rs587782552
|
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NM_032043.3(BRIP1):c.3508C>T (p.Leu1170Phe)
|
|
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NM_032043.3(BRIP1):c.3508del (p.Leu1170fs)
|
rs2144073489
|
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NM_032043.3(BRIP1):c.3509T>A (p.Leu1170His)
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NM_032043.3(BRIP1):c.3512T>C (p.Phe1171Ser)
|
rs878855155
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NM_032043.3(BRIP1):c.3513del (p.Phe1171fs)
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NM_032043.3(BRIP1):c.3516A>G (p.Glu1172=)
|
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NM_032043.3(BRIP1):c.3517A>C (p.Ile1173Leu)
|
rs2061303840
|
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NM_032043.3(BRIP1):c.3520A>G (p.Arg1174Gly)
|
rs2144073209
|
|
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NM_032043.3(BRIP1):c.3521G>A (p.Arg1174Lys)
|
|
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NM_032043.3(BRIP1):c.3522A>G (p.Arg1174=)
|
rs2144073145
|
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NM_032043.3(BRIP1):c.3526A>G (p.Ile1176Val)
|
rs2061303537
|
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NM_032043.3(BRIP1):c.3528A>C (p.Ile1176=)
|
|
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NM_032043.3(BRIP1):c.3528A>G (p.Ile1176Met)
|
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NM_032043.3(BRIP1):c.3528_3529insTTT (p.Ile1176_Lys1177insPhe)
|
|
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NM_032043.3(BRIP1):c.3530A>G (p.Lys1177Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3530AAG[1] (p.Glu1178del)
|
rs1567727749
|
|
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NM_032043.3(BRIP1):c.3531A>G (p.Lys1177=)
|
rs181186298
|
|
|
NM_032043.3(BRIP1):c.3532G>A (p.Glu1178Lys)
|
rs876661115
|
|
|
NM_032043.3(BRIP1):c.3532G>C (p.Glu1178Gln)
|
rs876661115
|
|
|
NM_032043.3(BRIP1):c.3533A>G (p.Glu1178Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3535G>A (p.Val1179Ile)
|
|
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NM_032043.3(BRIP1):c.3536T>G (p.Val1179Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3536_3538del (p.Val1179del)
|
rs1603274921
|
|
|
NM_032043.3(BRIP1):c.3537A>C (p.Val1179=)
|
|
|
|
NM_032043.3(BRIP1):c.3537A>G (p.Val1179=)
|
rs1555572536
|
|
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NM_032043.3(BRIP1):c.3538G>C (p.Asp1180His)
|
rs2061303001
|
|
|
NM_032043.3(BRIP1):c.3543A>G (p.Ser1181=)
|
rs1060504328
|
|
|
NM_032043.3(BRIP1):c.3544G>A (p.Ala1182Thr)
|
rs1555572535
|
|
|
NM_032043.3(BRIP1):c.3546C>A (p.Ala1182=)
|
rs755440956
|
|
|
NM_032043.3(BRIP1):c.3547A>C (p.Arg1183=)
|
|
|
|
NM_032043.3(BRIP1):c.3551A>G (p.Glu1184Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3552A>G (p.Glu1184=)
|
rs1057522561
|
|
|
NM_032043.3(BRIP1):c.3553G>C (p.Val1185Leu)
|
rs1567727691
|
|
|
NM_032043.3(BRIP1):c.3553G>T (p.Val1185Leu)
|
rs1567727691
|
|
|
NM_032043.3(BRIP1):c.3555G>A (p.Val1185=)
|
|
|
|
NM_032043.3(BRIP1):c.3557A>G (p.Lys1186Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3558A>G (p.Lys1186=)
|
rs1555572529
|
|
|
NM_032043.3(BRIP1):c.355_362dup (p.Ser122fs)
|
rs2145826463
|
|
|
NM_032043.3(BRIP1):c.3560C>T (p.Ala1187Val)
|
rs1603274878
|
|
|
NM_032043.3(BRIP1):c.3561T>G (p.Ala1187=)
|
rs2144071810
|
|
|
NM_032043.3(BRIP1):c.3562G>A (p.Glu1188Lys)
|
rs786201962
|
|
|
NM_032043.3(BRIP1):c.3563A>G (p.Glu1188Gly)
|
rs2061301893
|
|
|
NM_032043.3(BRIP1):c.3564G>A (p.Glu1188=)
|
|
|
|
NM_032043.3(BRIP1):c.3565G>A (p.Asp1189Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3569G>C (p.Cys1190Ser)
|
rs2061301683
|
|
|
NM_032043.3(BRIP1):c.3569_3570delinsCT (p.Cys1190Ser)
|
|
|
|
NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser)
|
rs889877039
|
|
|
NM_032043.3(BRIP1):c.356del (p.Asn119fs)
|
rs2145826750
|
|
|
NM_032043.3(BRIP1):c.3572T>C (p.Ile1191Thr)
|
rs2061301543
|
|
|
NM_032043.3(BRIP1):c.3575A>G (p.Asp1192Gly)
|
|
|
|
NM_032043.3(BRIP1):c.3578C>A (p.Thr1193Lys)
|
rs1368343911
|
|
|
NM_032043.3(BRIP1):c.3578C>G (p.Thr1193Arg)
|
rs1368343911
|
|
|
NM_032043.3(BRIP1):c.3579A>G (p.Thr1193=)
|
rs1060504331
|
|
|
NM_032043.3(BRIP1):c.357T>A (p.Asn119Lys)
|
rs786202477
|
|
|
NM_032043.3(BRIP1):c.3581A>T (p.Lys1194Met)
|
rs2144071092
|
|
|
NM_032043.3(BRIP1):c.3582G>A (p.Lys1194=)
|
rs1555572521
|
|
|
NM_032043.3(BRIP1):c.3584_3586delinsGG (p.Leu1195fs)
|
rs1555572519
|
|
|
NM_032043.3(BRIP1):c.3585G>A (p.Leu1195=)
|
rs2061301182
|
|
|
NM_032043.3(BRIP1):c.3588T>C (p.Asn1196=)
|
rs1555572517
|
|
|
NM_032043.3(BRIP1):c.358_361dup (p.Thr121fs)
|
rs1567874485
|
|
|
NM_032043.3(BRIP1):c.3590G>A (p.Gly1197Glu)
|
rs587781677
|
|
|
NM_032043.3(BRIP1):c.3592A>T (p.Ile1198Phe)
|
rs2061300867
|
|
|
NM_032043.3(BRIP1):c.3594T>G (p.Ile1198Met)
|
rs1603274842
|
|
|
NM_032043.3(BRIP1):c.3595C>G (p.Leu1199Val)
|
rs876659839
|
|
|
NM_032043.3(BRIP1):c.3595C>T (p.Leu1199=)
|
rs876659839
|
|
|
NM_032043.3(BRIP1):c.3597G>T (p.Leu1199=)
|
|
|
|
NM_032043.3(BRIP1):c.3597_3598delinsCA (p.His1200Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3599A>G (p.His1200Arg)
|
rs730881628
|
|
|
NM_032043.3(BRIP1):c.359G>A (p.Gly120Asp)
|
rs730881637
|
|
|
NM_032043.3(BRIP1):c.359G>T (p.Gly120Val)
|
|
|
|
NM_032043.3(BRIP1):c.35G>C (p.Gly12Ala)
|
rs1555618733
|
|
|
NM_032043.3(BRIP1):c.35_39del (p.Gly12fs)
|
|
|
|
NM_032043.3(BRIP1):c.3600T>C (p.His1200=)
|
|
|
|
NM_032043.3(BRIP1):c.3601A>G (p.Ile1201Val)
|
|
|
|
NM_032043.3(BRIP1):c.3602T>C (p.Ile1201Thr)
|
rs2061300384
|
|
|
NM_032043.3(BRIP1):c.3603T>C (p.Ile1201=)
|
rs1239998940
|
|
|
NM_032043.3(BRIP1):c.3605A>C (p.Glu1202Ala)
|
rs776010326
|
|
|
NM_032043.3(BRIP1):c.3607del (p.Glu1203fs)
|
rs2144070111
|
|
|
NM_032043.3(BRIP1):c.3608A>G (p.Glu1203Gly)
|
rs1403310555
|
|
|
NM_032043.3(BRIP1):c.360C>T (p.Gly120=)
|
rs1060501730
|
|
|
NM_032043.3(BRIP1):c.3613A>G (p.Lys1205Glu)
|
|
|
|
NM_032043.3(BRIP1):c.3615A>C (p.Lys1205Asn)
|
rs768156067
|
|
|
NM_032043.3(BRIP1):c.3616A>G (p.Ile1206Val)
|
|
|
|
NM_032043.3(BRIP1):c.3617T>C (p.Ile1206Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3618T>C (p.Ile1206=)
|
|
|
|
NM_032043.3(BRIP1):c.3618T>G (p.Ile1206Met)
|
rs2061299577
|
|
|
NM_032043.3(BRIP1):c.3619G>A (p.Asp1207Asn)
|
|
|
|
NM_032043.3(BRIP1):c.3622G>A (p.Asp1208Asn)
|
rs760589795
|
|
|
NM_032043.3(BRIP1):c.3622G>C (p.Asp1208His)
|
rs760589795
|
|
|
NM_032043.3(BRIP1):c.3624C>T (p.Asp1208=)
|
rs2144069601
|
|
|
NM_032043.3(BRIP1):c.3625A>G (p.Ile1209Val)
|
rs1603274780
|
|
|
NM_032043.3(BRIP1):c.3627T>A (p.Ile1209=)
|
rs548674096
|
|
|
NM_032043.3(BRIP1):c.3627T>C (p.Ile1209=)
|
|
|
|
NM_032043.3(BRIP1):c.3629A>G (p.Asp1210Gly)
|
rs112214651
|
|
|
NM_032043.3(BRIP1):c.3629_3631del (p.Asp1210del)
|
rs1064794200
|
|
|
NM_032043.3(BRIP1):c.362C>T (p.Thr121Ile)
|
rs777630298
|
|
|
NM_032043.3(BRIP1):c.3630T>C (p.Asp1210=)
|
rs2144069414
|
|
|
NM_032043.3(BRIP1):c.3631G>A (p.Gly1211Ser)
|
rs1567727439
|
|
|
NM_032043.3(BRIP1):c.3632del (p.Gly1211fs)
|
rs2144069324
|
|
|
NM_032043.3(BRIP1):c.3634A>G (p.Asn1212Asp)
|
rs2144069259
|
|
|
NM_032043.3(BRIP1):c.3637G>A (p.Val1213Ile)
|
|
|
|
NM_032043.3(BRIP1):c.3639A>G (p.Val1213=)
|
rs2144069102
|
|
|
NM_032043.3(BRIP1):c.363T>A (p.Thr121=)
|
rs876660306
|
|
|
NM_032043.3(BRIP1):c.363T>C (p.Thr121=)
|
rs876660306
|
|
|
NM_032043.3(BRIP1):c.3641A>C (p.Lys1214Thr)
|
|
|
|
NM_032043.3(BRIP1):c.3642A>C (p.Lys1214Asn)
|
rs2061298986
|
|
|
NM_032043.3(BRIP1):c.3647C>T (p.Thr1216Ile)
|
rs1567727417
|
|
|
NM_032043.3(BRIP1):c.364T>G (p.Ser122Ala)
|
rs1555617788
|
|
|
NM_032043.3(BRIP1):c.3650G>T (p.Trp1217Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)
|
rs542698396
|
|
|
NM_032043.3(BRIP1):c.3655A>C (p.Asn1219His)
|
rs1567727404
|
|
|
NM_032043.3(BRIP1):c.3656del (p.Asn1219fs)
|
rs2061298543
|
|
|
NM_032043.3(BRIP1):c.3658G>A (p.Glu1220Lys)
|
rs1555572476
|
|
|
NM_032043.3(BRIP1):c.3658G>T (p.Glu1220Ter)
|
rs1555572476
|
|
|
NM_032043.3(BRIP1):c.3659A>G (p.Glu1220Gly)
|
rs2061298409
|
|
|
NM_032043.3(BRIP1):c.3660A>C (p.Glu1220Asp)
|
|
|
|
NM_032043.3(BRIP1):c.3660A>G (p.Glu1220=)
|
rs2144068349
|
|
|
NM_032043.3(BRIP1):c.3661C>G (p.Leu1221Val)
|
rs2061298344
|
|
|
NM_032043.3(BRIP1):c.3661C>T (p.Leu1221=)
|
rs2061298344
|
|
|
NM_032043.3(BRIP1):c.3662T>G (p.Leu1221Arg)
|
rs778805688
|
|
|
NM_032043.3(BRIP1):c.3664G>C (p.Glu1222Gln)
|
rs2144068196
|
|
|
NM_032043.3(BRIP1):c.3664dup (p.Glu1222fs)
|
rs752586524
|
|
|
NM_032043.3(BRIP1):c.3665A>T (p.Glu1222Val)
|
rs770175142
|
|
|
NM_032043.3(BRIP1):c.3667C>T (p.Leu1223=)
|
rs748310432
|
|
|
NM_032043.3(BRIP1):c.3667_3673del (p.Leu1223fs)
|
rs2061297923
|
|
|
NM_032043.3(BRIP1):c.3669G>A (p.Leu1223=)
|
rs1567727357
|
|
|
NM_032043.3(BRIP1):c.366A>G (p.Ser122=)
|
rs1603366194
|
|
|
NM_032043.3(BRIP1):c.366A>T (p.Ser122=)
|
rs1603366194
|
|
|
NM_032043.3(BRIP1):c.3671G>A (p.Gly1224Glu)
|
|
|
|
NM_032043.3(BRIP1):c.3674A>C (p.Lys1225Thr)
|
rs2144067914
|
|
|
NM_032043.3(BRIP1):c.3675A>G (p.Lys1225=)
|
|
|
|
NM_032043.3(BRIP1):c.3676del (p.Thr1226fs)
|
rs2144067889
|
|
|
NM_032043.3(BRIP1):c.3679C>G (p.His1227Asp)
|
rs2061297833
|
|
|
NM_032043.3(BRIP1):c.3680A>G (p.His1227Arg)
|
rs755069935
|
|
|
NM_032043.3(BRIP1):c.3680A>T (p.His1227Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3682G>A (p.Glu1228Lys)
|
|
|
|
NM_032043.3(BRIP1):c.3685A>C (p.Ile1229Leu)
|
|
|
|
NM_032043.3(BRIP1):c.3686T>C (p.Ile1229Thr)
|
rs1157058742
|
|
|
NM_032043.3(BRIP1):c.368C>A (p.Ser123Ter)
|
|
|
|
NM_032043.3(BRIP1):c.3690A>G (p.Glu1230=)
|
|
|
|
NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val)
|
rs876659290
|
|
|
NM_032043.3(BRIP1):c.3692T>C (p.Ile1231Thr)
|
rs780578438
|
|
|
NM_032043.3(BRIP1):c.3692T>G (p.Ile1231Arg)
|
rs780578438
|
|
|
NM_032043.3(BRIP1):c.3694A>G (p.Lys1232Glu)
|
|
|
|
NM_032043.3(BRIP1):c.3695A>G (p.Lys1232Arg)
|
rs1555572446
|
|
|
NM_032043.3(BRIP1):c.3696G>A (p.Lys1232=)
|
rs2061297235
|
|
|
NM_032043.3(BRIP1):c.3698A>G (p.Asn1233Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3699C>T (p.Asn1233=)
|
|
|
|
NM_032043.3(BRIP1):c.36G>C (p.Gly12=)
|
rs45566938
|
|
|
NM_032043.3(BRIP1):c.3700T>C (p.Phe1234Leu)
|
rs878855156
|
|
|
NM_032043.3(BRIP1):c.3701T>C (p.Phe1234Ser)
|
|
|
|
NM_032043.3(BRIP1):c.3701T>G (p.Phe1234Cys)
|
rs587778137
|
|
|
NM_032043.3(BRIP1):c.3702T>C (p.Phe1234=)
|
|
|
|
NM_032043.3(BRIP1):c.3702T>G (p.Phe1234Leu)
|
rs2061296981
|
|
|
NM_032043.3(BRIP1):c.3703A>G (p.Lys1235Glu)
|
rs1567727245
|
|
|
NM_032043.3(BRIP1):c.3705A>G (p.Lys1235=)
|
|
|
|
NM_032043.3(BRIP1):c.3706C>T (p.Pro1236Ser)
|
rs1060501771
|
|
|
NM_032043.3(BRIP1):c.3707C>T (p.Pro1236Leu)
|
rs1265133595
|
|
|
NM_032043.3(BRIP1):c.370A>C (p.Thr124Pro)
|
rs45617634
|
|
|
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala)
|
rs45617634
|
|
|
NM_032043.3(BRIP1):c.3710C>A (p.Ser1237Tyr)
|
rs587781819
|
|
|
NM_032043.3(BRIP1):c.3710C>T (p.Ser1237Phe)
|
rs587781819
|
|
|
NM_032043.3(BRIP1):c.3711T>C (p.Ser1237=)
|
rs786203915
|
|
|
NM_032043.3(BRIP1):c.3712C>A (p.Pro1238Thr)
|
rs1192747697
|
|
|
NM_032043.3(BRIP1):c.3712_3714del (p.Pro1238del)
|
rs1603274664
|
|
|
NM_032043.3(BRIP1):c.3715T>C (p.Ser1239Pro)
|
rs587781886
|
|
|
NM_032043.3(BRIP1):c.3717C>A (p.Ser1239=)
|
rs758809865
|
|
|
NM_032043.3(BRIP1):c.3717C>G (p.Ser1239=)
|
|
|
|
NM_032043.3(BRIP1):c.371C>A (p.Thr124Asn)
|
rs2145826085
|
|
|
NM_032043.3(BRIP1):c.3726_3730dup (p.Met1244fs)
|
rs1491231712
|
|
|
NM_032043.3(BRIP1):c.3728G>A (p.Gly1243Asp)
|
rs765545033
|
|
|
NM_032043.3(BRIP1):c.3728G>C (p.Gly1243Ala)
|
|
|
|
NM_032043.3(BRIP1):c.3728G>T (p.Gly1243Val)
|
rs765545033
|
|
|
NM_032043.3(BRIP1):c.3729C>T (p.Gly1243=)
|
|
|
|
NM_032043.3(BRIP1):c.372T>C (p.Thr124=)
|
rs1555617785
|
|
|
NM_032043.3(BRIP1):c.3730A>C (p.Met1244Leu)
|
rs761468878
|
|
|
NM_032043.3(BRIP1):c.3731T>A (p.Met1244Lys)
|
rs1260819959
|
|
|
NM_032043.3(BRIP1):c.3731_*5del (p.Met1244fs)
|
rs1555572407
|
|
|
NM_032043.3(BRIP1):c.3732G>A (p.Met1244Ile)
|
rs753516000
|
|
|
NM_032043.3(BRIP1):c.3734T>G (p.Phe1245Cys)
|
|
|
|
NM_032043.3(BRIP1):c.3737C>G (p.Pro1246Arg)
|
|
|
|
NM_032043.3(BRIP1):c.3737C>T (p.Pro1246Leu)
|
rs876660074
|
|
|
NM_032043.3(BRIP1):c.3738T>C (p.Pro1246=)
|
|
|
|
NM_032043.3(BRIP1):c.3740G>A (p.Gly1247Asp)
|
rs2144065748
|
|
|
NM_032043.3(BRIP1):c.3741T>A (p.Gly1247=)
|
rs1555572413
|
|
|
NM_032043.3(BRIP1):c.3742T>C (p.Phe1248Leu)
|
rs1567727102
|
|
|
NM_032043.3(BRIP1):c.3744del (p.Phe1248fs)
|
rs2061295225
|
|
|
NM_032043.3(BRIP1):c.3747G>A (p.Lys1249=)
|
rs1264149264
|
|
|
NM_032043.3(BRIP1):c.3747_3750del (p.Lys1249fs)
|
rs1555572410
|
|
|
NM_032043.3(BRIP1):c.3749A>T (p.Ter1250Leu)
|
rs1603274602
|
|
|
NM_032043.3(BRIP1):c.374G>C (p.Cys125Ser)
|
rs876660020
|
|
|
NM_032043.3(BRIP1):c.374G>T (p.Cys125Phe)
|
rs876660020
|
|
|
NM_032043.3(BRIP1):c.3750A>G (p.Ter1250=)
|
|
|
|
NM_032043.3(BRIP1):c.375T>C (p.Cys125=)
|
|
|
|
NM_032043.3(BRIP1):c.376C>T (p.Gln126Ter)
|
|
|
|
NM_032043.3(BRIP1):c.378A>G (p.Gln126=)
|
rs2145825894
|
|
|
NM_032043.3(BRIP1):c.379+10A>G
|
|
|
|
NM_032043.3(BRIP1):c.379+10dup
|
|
|
|
NM_032043.3(BRIP1):c.379+17C>T
|
rs1567874393
|
|
|
NM_032043.3(BRIP1):c.379+19G>C
|
rs2145825488
|
|
|
NM_032043.3(BRIP1):c.379+1G>A
|
rs1437158047
|
|
|
NM_032043.3(BRIP1):c.379+1G>T
|
rs1437158047
|
|
|
NM_032043.3(BRIP1):c.379+2T>C
|
rs2145825816
|
|
|
NM_032043.3(BRIP1):c.379+5T>A
|
rs1603366174
|
|
|
NM_032043.3(BRIP1):c.379+6T>A
|
|
|
|
NM_032043.3(BRIP1):c.379+7T>C
|
|
|
|
NM_032043.3(BRIP1):c.379+8A>C
|
rs1057520254
|
|
|
NM_032043.3(BRIP1):c.379+8A>G
|
rs1057520254
|
|
|
NM_032043.3(BRIP1):c.379+8A>T
|
|
|
|
NM_032043.3(BRIP1):c.379+9T>C
|
|
|
|
NM_032043.3(BRIP1):c.37G>A (p.Val13Met)
|
rs1488264110
|
|
|
NM_032043.3(BRIP1):c.37G>T (p.Val13Leu)
|
|
|
|
NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)
|
|
|
|
NM_032043.3(BRIP1):c.37dup (p.Val13fs)
|
|
|
|
NM_032043.3(BRIP1):c.380-12T>C
|
rs2145767396
|
|
|
NM_032043.3(BRIP1):c.380-13T>C
|
|
|
|
NM_032043.3(BRIP1):c.380-14A>G
|
|
|
|
NM_032043.3(BRIP1):c.380-16A>T
|
rs769150213
|
|
|
NM_032043.3(BRIP1):c.380-17del
|
rs545021924
|
|
|
NM_032043.3(BRIP1):c.380-17dup
|
rs545021924
|
|
|
NM_032043.3(BRIP1):c.380-18T>A
|
|
|
|
NM_032043.3(BRIP1):c.380-18_380-17dup
|
|
|
|
NM_032043.3(BRIP1):c.380-1G>C
|
rs2145767071
|
|
|
NM_032043.3(BRIP1):c.380-4T>C
|
rs1416727235
|
|
|
NM_032043.3(BRIP1):c.380-6T>C
|
rs780921390
|
|
|
NM_032043.3(BRIP1):c.383C>T (p.Ser128Phe)
|
rs1603362723
|
|
|
NM_032043.3(BRIP1):c.384C>T (p.Ser128=)
|
rs1555616231
|
|
|
NM_032043.3(BRIP1):c.385C>T (p.Pro129Ser)
|
rs1555616229
|
|
|
NM_032043.3(BRIP1):c.386C>A (p.Pro129His)
|
rs587780831
|
|
|
NM_032043.3(BRIP1):c.386C>G (p.Pro129Arg)
|
rs587780831
|
|
|
NM_032043.3(BRIP1):c.386dup (p.Pro129_Glu130insTer)
|
rs876660080
|
|
|
NM_032043.3(BRIP1):c.387T>C (p.Pro129=)
|
rs779324498
|
|
|
NM_032043.3(BRIP1):c.388G>A (p.Glu130Lys)
|
rs876658860
|
|
|
NM_032043.3(BRIP1):c.390A>G (p.Glu130=)
|
|
|
|
NM_032043.3(BRIP1):c.392A>G (p.Lys131Arg)
|
rs2078781626
|
|
|
NM_032043.3(BRIP1):c.393A>C (p.Lys131Asn)
|
rs2078781577
|
|
|
NM_032043.3(BRIP1):c.394dup (p.Thr132fs)
|
rs587781416
|
|
|
NM_032043.3(BRIP1):c.395C>A (p.Thr132Asn)
|
|
|
|
NM_032043.3(BRIP1):c.396C>G (p.Thr132=)
|
|
|
|
NM_032043.3(BRIP1):c.396_398dup (p.Thr133_Leu134insThr)
|
|
|
|
NM_032043.3(BRIP1):c.396_400del (p.Thr133fs)
|
rs1555616206
|
|
|
NM_032043.3(BRIP1):c.397A>G (p.Thr133Ala)
|
rs764256720
|
|
|
NM_032043.3(BRIP1):c.398C>G (p.Thr133Ser)
|
|
|
|
NM_032043.3(BRIP1):c.39G>A (p.Val13=)
|
rs2078972813
|
|
|
NM_032043.3(BRIP1):c.400C>T (p.Leu134=)
|
|
|
|
NM_032043.3(BRIP1):c.401T>C (p.Leu134Pro)
|
|
|
|
NM_032043.3(BRIP1):c.403G>T (p.Ala135Ser)
|
|
|
|
NM_032043.3(BRIP1):c.403del (p.Ala135fs)
|
rs2078781062
|
|
|
NM_032043.3(BRIP1):c.404C>G (p.Ala135Gly)
|
|
|
|
NM_032043.3(BRIP1):c.404C>T (p.Ala135Val)
|
rs1295736478
|
|
|
NM_032043.3(BRIP1):c.405T>C (p.Ala135=)
|
|
|
|
NM_032043.3(BRIP1):c.407C>A (p.Ala136Glu)
|
|
|
|
NM_032043.3(BRIP1):c.408A>C (p.Ala136=)
|
rs876660891
|
|
|
NM_032043.3(BRIP1):c.408A>G (p.Ala136=)
|
rs876660891
|
|
|
NM_032043.3(BRIP1):c.408A>T (p.Ala136=)
|
|
|
|
NM_032043.3(BRIP1):c.409A>G (p.Lys137Glu)
|
rs878855157
|
|
|
NM_032043.3(BRIP1):c.409_410del (p.Lys137fs)
|
rs1057520058
|
|
|
NM_032043.3(BRIP1):c.40A>G (p.Lys14Glu)
|
rs1555618727
|
|
|
NM_032043.3(BRIP1):c.40A>T (p.Lys14Ter)
|
rs1555618727
|
|
|
NM_032043.3(BRIP1):c.411G>A (p.Lys137=)
|
|
|
|
NM_032043.3(BRIP1):c.415T>C (p.Ser139Pro)
|
|
|
|
NM_032043.3(BRIP1):c.416C>T (p.Ser139Phe)
|
rs1567868653
|
|
|
NM_032043.3(BRIP1):c.418G>A (p.Ala140Thr)
|
rs2078780535
|
|
|
NM_032043.3(BRIP1):c.420T>C (p.Ala140=)
|
rs1555616190
|
|
|
NM_032043.3(BRIP1):c.420T>G (p.Ala140=)
|
rs1555616190
|
|
|
NM_032043.3(BRIP1):c.423G>C (p.Lys141Asn)
|
rs1603362663
|
|
|
NM_032043.3(BRIP1):c.424_466del (p.Lys141_Lys142insTer)
|
|
|
|
NM_032043.3(BRIP1):c.427C>T (p.Gln143Ter)
|
|
|
|
NM_032043.3(BRIP1):c.427_428delinsGG (p.Gln143Gly)
|
|
|
|
NM_032043.3(BRIP1):c.428A>C (p.Gln143Pro)
|
rs1603362656
|
|
|
NM_032043.3(BRIP1):c.428A>G (p.Gln143Arg)
|
rs1603362656
|
|
|
NM_032043.3(BRIP1):c.428A>T (p.Gln143Leu)
|
|
|
|
NM_032043.3(BRIP1):c.428_447del (p.Gln143fs)
|
|
|
|
NM_032043.3(BRIP1):c.429G>A (p.Gln143=)
|
rs2078780171
|
|
|
NM_032043.3(BRIP1):c.42G>A (p.Lys14=)
|
rs2078972704
|
|
|
NM_032043.3(BRIP1):c.42G>C (p.Lys14Asn)
|
rs2078972704
|
|
|
NM_032043.3(BRIP1):c.42G>T (p.Lys14Asn)
|
rs2078972704
|
|
|
NM_032043.3(BRIP1):c.430G>T (p.Ala144Ser)
|
|
|
|
NM_032043.3(BRIP1):c.431C>A (p.Ala144Glu)
|
rs1555616182
|
|
|
NM_032043.3(BRIP1):c.432A>G (p.Ala144=)
|
|
|
|
NM_032043.3(BRIP1):c.432A>T (p.Ala144=)
|
rs1342776835
|
|
|
NM_032043.3(BRIP1):c.435C>T (p.Ser145=)
|
|
|
|
NM_032043.3(BRIP1):c.436A>G (p.Ile146Val)
|
rs1567868598
|
|
|
NM_032043.3(BRIP1):c.438A>C (p.Ile146=)
|
rs886038702
|
|
|
NM_032043.3(BRIP1):c.438A>G (p.Ile146Met)
|
rs886038702
|
|
|
NM_032043.3(BRIP1):c.438A>T (p.Ile146=)
|
rs886038702
|
|
|
NM_032043.3(BRIP1):c.438_440delinsCT (p.Tyr147fs)
|
rs786203429
|
|
|
NM_032043.3(BRIP1):c.439T>C (p.Tyr147His)
|
rs1567868580
|
|
|
NM_032043.3(BRIP1):c.43A>G (p.Ile15Val)
|
rs1567878177
|
|
|
NM_032043.3(BRIP1):c.440del (p.Tyr147fs)
|
rs1555616176
|
|
|
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter)
|
rs786203521
|
|
|
NM_032043.3(BRIP1):c.441C>A (p.Tyr147Ter)
|
rs1603362622
|
|
|
NM_032043.3(BRIP1):c.441C>G (p.Tyr147Ter)
|
rs1603362622
|
|
|
NM_032043.3(BRIP1):c.441_442del (p.Tyr147_Arg148delinsTer)
|
rs2078779429
|
|
|
NM_032043.3(BRIP1):c.441_445delinsA (p.Tyr147_Asp149delinsTer)
|
|
|
|
NM_032043.3(BRIP1):c.442A>C (p.Arg148=)
|
rs876658914
|
|
|
NM_032043.3(BRIP1):c.443G>A (p.Arg148Lys)
|
rs1243511600
|
|
|
NM_032043.3(BRIP1):c.443_446del (p.Arg148fs)
|
rs2145763904
|
|
|
NM_032043.3(BRIP1):c.444del (p.Asp149fs)
|
|
|
|
NM_032043.3(BRIP1):c.445G>A (p.Asp149Asn)
|
|
|
|
NM_032043.3(BRIP1):c.446A>G (p.Asp149Gly)
|
rs770613242
|
|
|
NM_032043.3(BRIP1):c.447T>A (p.Asp149Glu)
|
|
|
|
NM_032043.3(BRIP1):c.447T>C (p.Asp149=)
|
|
|
|
NM_032043.3(BRIP1):c.448G>T (p.Glu150Ter)
|
rs762701532
|
|
|
NM_032043.3(BRIP1):c.452A>G (p.Asn151Ser)
|
rs1555616165
|
|
|
NM_032043.3(BRIP1):c.452del (p.Asn151fs)
|
|
|
|
NM_032043.3(BRIP1):c.453T>C (p.Asn151=)
|
|
|
|
NM_032043.3(BRIP1):c.454G>C (p.Asp152His)
|
|
|
|
NM_032043.3(BRIP1):c.455A>G (p.Asp152Gly)
|
rs2145763474
|
|
|
NM_032043.3(BRIP1):c.459T>C (p.Asp153=)
|
rs1603362599
|
|
|
NM_032043.3(BRIP1):c.45T>C (p.Ile15=)
|
|
|
|
NM_032043.3(BRIP1):c.460T>A (p.Phe154Ile)
|
|
|
|
NM_032043.3(BRIP1):c.461_462del (p.Phe154fs)
|
rs1567868477
|
|
|
NM_032043.3(BRIP1):c.462T>C (p.Phe154=)
|
rs1555616156
|
|
|
NM_032043.3(BRIP1):c.462dup (p.Gln155fs)
|
rs1567868477
|
|
|
NM_032043.3(BRIP1):c.463C>G (p.Gln155Glu)
|
rs587781786
|
|
|
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter)
|
rs587781786
|
|
|
NM_032043.3(BRIP1):c.463_464insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGATGATTTTC (p.Phe154_Gln155insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysGluAsnAspAspPhe)
|
|
|
|
NM_032043.3(BRIP1):c.465A>G (p.Gln155=)
|
rs876659453
|
|
|
NM_032043.3(BRIP1):c.466G>T (p.Val156Leu)
|
rs876659373
|
|
|
NM_032043.3(BRIP1):c.467T>C (p.Val156Ala)
|
rs1567868429
|
|
|
NM_032043.3(BRIP1):c.468A>G (p.Val156=)
|
rs876660148
|
|
|
NM_032043.3(BRIP1):c.469G>A (p.Glu157Lys)
|
rs2078778379
|
|
|
NM_032043.3(BRIP1):c.469G>C (p.Glu157Gln)
|
rs2078778379
|
|
|
NM_032043.3(BRIP1):c.469G>T (p.Glu157Ter)
|
|
|
|
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)
|
rs876660613
|
|
|
NM_032043.3(BRIP1):c.471G>A (p.Glu157=)
|
rs2078778336
|
|
|
NM_032043.3(BRIP1):c.473A>G (p.Lys158Arg)
|
rs769364081
|
|
|
NM_032043.3(BRIP1):c.474G>A (p.Lys158=)
|
|
|
|
NM_032043.3(BRIP1):c.474del (p.Arg160fs)
|
rs1603362580
|
|
|
NM_032043.3(BRIP1):c.475A>C (p.Lys159Gln)
|
rs2078778116
|
|
|
NM_032043.3(BRIP1):c.475A>G (p.Lys159Glu)
|
rs2078778116
|
|
|
NM_032043.3(BRIP1):c.476A>G (p.Lys159Arg)
|
rs1603362575
|
|
|
NM_032043.3(BRIP1):c.477A>C (p.Lys159Asn)
|
rs2078778020
|
|
|
NM_032043.3(BRIP1):c.477A>G (p.Lys159=)
|
|
|
|
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs)
|
rs1555616143
|
|
|
NM_032043.3(BRIP1):c.478A>C (p.Arg160=)
|
|
|
|
NM_032043.3(BRIP1):c.478A>G (p.Arg160Gly)
|
|
|
|
NM_032043.3(BRIP1):c.478del (p.Arg160fs)
|
rs1555616150
|
|
|
NM_032043.3(BRIP1):c.479G>T (p.Arg160Ile)
|
rs1330277587
|
|
|
NM_032043.3(BRIP1):c.481A>G (p.Ile161Val)
|
rs786203916
|
|
|
NM_032043.3(BRIP1):c.484C>A (p.Arg162=)
|
rs747604569
|
|
|
NM_032043.3(BRIP1):c.485G>A (p.Arg162Gln)
|
rs61757643
|
|
|
NM_032043.3(BRIP1):c.485G>C (p.Arg162Pro)
|
rs61757643
|
|
|
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu)
|
rs61757643
|
|
|
NM_032043.3(BRIP1):c.486del (p.Pro163_Leu164insTer)
|
|
|
|
NM_032043.3(BRIP1):c.487C>G (p.Pro163Ala)
|
rs1064795902
|
|
|
NM_032043.3(BRIP1):c.487C>T (p.Pro163Ser)
|
rs1064795902
|
|
|
NM_032043.3(BRIP1):c.488C>A (p.Pro163His)
|
rs2145761987
|
|
|
NM_032043.3(BRIP1):c.488C>T (p.Pro163Leu)
|
rs2145761987
|
|
|
NM_032043.3(BRIP1):c.489C>G (p.Pro163=)
|
|
|
|
NM_032043.3(BRIP1):c.48C>T (p.Tyr16=)
|
rs1603368466
|
|
|
NM_032043.3(BRIP1):c.491T>G (p.Leu164Ter)
|
|
|
|
NM_032043.3(BRIP1):c.495A>C (p.Glu165Asp)
|
rs780024960
|
|
|
NM_032043.3(BRIP1):c.498T>A (p.Thr166=)
|
|
|
|
NM_032043.3(BRIP1):c.499A>G (p.Thr167Ala)
|
rs1060501738
|
|
|
NM_032043.3(BRIP1):c.49T>C (p.Phe17Leu)
|
rs1603368465
|
|
|
NM_032043.3(BRIP1):c.500C>A (p.Thr167Lys)
|
rs758218234
|
|
|
NM_032043.3(BRIP1):c.500C>T (p.Thr167Ile)
|
rs758218234
|
|
|
NM_032043.3(BRIP1):c.502C>A (p.Gln168Lys)
|
rs748211848
|
|
|
NM_032043.3(BRIP1):c.502C>T (p.Gln168Ter)
|
|
|
|
NM_032043.3(BRIP1):c.502del (p.Gln168fs)
|
|
|
|
NM_032043.3(BRIP1):c.503dup (p.Gln169fs)
|
|
|
|
NM_032043.3(BRIP1):c.504G>A (p.Gln168=)
|
rs1064795698
|
|
|
NM_032043.3(BRIP1):c.505C>T (p.Gln169Ter)
|
|
|
|
NM_032043.3(BRIP1):c.505_506insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAACTACACAGC (p.Gln169delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2145761401
|
|
|
NM_032043.3(BRIP1):c.506A>C (p.Gln169Pro)
|
rs2078776978
|
|
|
NM_032043.3(BRIP1):c.507+10G>A
|
rs1057523376
|
|
|
NM_032043.3(BRIP1):c.507+15T>C
|
rs2145760774
|
|
|
NM_032043.3(BRIP1):c.507+16T>C
|
|
|
|
NM_032043.3(BRIP1):c.507+19C>A
|
|
|
|
NM_032043.3(BRIP1):c.507+1G>T
|
rs2145761239
|
|
|
NM_032043.3(BRIP1):c.507+1del
|
|
|
|
NM_032043.3(BRIP1):c.507+20A>G
|
rs369270945
|
|
|
NM_032043.3(BRIP1):c.507+2T>A
|
|
|
|
NM_032043.3(BRIP1):c.507+3A>G
|
|
|
|
NM_032043.3(BRIP1):c.507+6C>T
|
rs2078776834
|
|
|
NM_032043.3(BRIP1):c.507+7A>G
|
|
|
|
NM_032043.3(BRIP1):c.507+7dup
|
rs2145761034
|
|
|
NM_032043.3(BRIP1):c.507+9A>G
|
rs2145760959
|
|
|
NM_032043.3(BRIP1):c.507+9_507+10del
|
rs747185394
|
|
|
NM_032043.3(BRIP1):c.507G>A (p.Gln169=)
|
rs876660937
|
|
|
NM_032043.3(BRIP1):c.507G>C (p.Gln169His)
|
|
|
|
NM_032043.3(BRIP1):c.507G>T (p.Gln169His)
|
rs876660937
|
|
|
NM_032043.3(BRIP1):c.508-10G>A
|
rs2078749443
|
|
|
NM_032043.3(BRIP1):c.508-10G>C
|
rs2078749443
|
|
|
NM_032043.3(BRIP1):c.508-10G>T
|
|
|
|
NM_032043.3(BRIP1):c.508-11T>C
|
rs2078749491
|
|
|
NM_032043.3(BRIP1):c.508-12C>T
|
rs2145745562
|
|
|
NM_032043.3(BRIP1):c.508-15G>T
|
rs1057523603
|
|
|
NM_032043.3(BRIP1):c.508-16G>C
|
rs1423428195
|
|
|
NM_032043.3(BRIP1):c.508-18T>C
|
rs1555615801
|
|
|
NM_032043.3(BRIP1):c.508-1G>C
|
rs864622277
|
|
|
NM_032043.3(BRIP1):c.508-1G>T
|
rs864622277
|
|
|
NM_032043.3(BRIP1):c.508-20T>G
|
|
|
|
NM_032043.3(BRIP1):c.508-2A>C
|
rs876659707
|
|
|
NM_032043.3(BRIP1):c.508-2A>G
|
rs876659707
|
|
|
NM_032043.3(BRIP1):c.508-2A>T
|
rs876659707
|
|
|
NM_032043.3(BRIP1):c.508-3C>T
|
|
|
|
NM_032043.3(BRIP1):c.508-8G>A
|
rs202074040
|
|
|
NM_032043.3(BRIP1):c.508-9T>C
|
|
|
|
NM_032043.3(BRIP1):c.508A>G (p.Ile170Val)
|
rs1603361718
|
|
|
NM_032043.3(BRIP1):c.510T>C (p.Ile170=)
|
|
|
|
NM_032043.3(BRIP1):c.510T>G (p.Ile170Met)
|
|
|
|
NM_032043.3(BRIP1):c.511A>T (p.Arg171Ter)
|
|
|
|
NM_032043.3(BRIP1):c.514A>G (p.Lys172Glu)
|
rs1060501765
|
|
|
NM_032043.3(BRIP1):c.514A>T (p.Lys172Ter)
|
rs1060501765
|
|
|
NM_032043.3(BRIP1):c.516A>G (p.Lys172=)
|
|
|
|
NM_032043.3(BRIP1):c.518G>C (p.Arg173Pro)
|
rs761432927
|
|
|
NM_032043.3(BRIP1):c.51_55del (p.Phe17fs)
|
|
|
|
NM_032043.3(BRIP1):c.520C>T (p.His174Tyr)
|
rs776248182
|
|
|
NM_032043.3(BRIP1):c.524G>A (p.Cys175Tyr)
|
rs2145744852
|
|
|
NM_032043.3(BRIP1):c.525C>T (p.Cys175=)
|
rs2078748660
|
|
|
NM_032043.3(BRIP1):c.526T>G (p.Phe176Val)
|
rs746963627
|
|
|
NM_032043.3(BRIP1):c.526_536del (p.Phe176fs)
|
|
|
|
NM_032043.3(BRIP1):c.527T>G (p.Phe176Cys)
|
rs2078748560
|
|
|
NM_032043.3(BRIP1):c.529G>C (p.Gly177Arg)
|
rs2078748501
|
|
|
NM_032043.3(BRIP1):c.52C>G (p.Pro18Ala)
|
|
|
|
NM_032043.3(BRIP1):c.52C>T (p.Pro18Ser)
|
rs1555618724
|
|
|
NM_032043.3(BRIP1):c.530G>A (p.Gly177Glu)
|
rs2078748443
|
|
|
NM_032043.3(BRIP1):c.532A>C (p.Thr178Pro)
|
|
|
|
NM_032043.3(BRIP1):c.532del (p.Thr178fs)
|
|
|
|
NM_032043.3(BRIP1):c.533C>G (p.Thr178Arg)
|
rs876658780
|
|
|
NM_032043.3(BRIP1):c.533C>T (p.Thr178Ile)
|
rs876658780
|
|
|
NM_032043.3(BRIP1):c.534A>G (p.Thr178=)
|
rs2145744562
|
|
|
NM_032043.3(BRIP1):c.534A>T (p.Thr178=)
|
|
|
|
NM_032043.3(BRIP1):c.535_536dup (p.Val180fs)
|
|
|
|
NM_032043.3(BRIP1):c.536_538dup (p.Glu179dup)
|
rs1567866837
|
|
|
NM_032043.3(BRIP1):c.538G>A (p.Val180Ile)
|
rs1603361670
|
|
|
NM_032043.3(BRIP1):c.538G>C (p.Val180Leu)
|
|
|
|
NM_032043.3(BRIP1):c.53del (p.Pro18fs)
|
|
|
|
NM_032043.3(BRIP1):c.540A>G (p.Val180=)
|
|
|
|
NM_032043.3(BRIP1):c.542A>G (p.His181Arg)
|
rs2078748128
|
|
|
NM_032043.3(BRIP1):c.543C>A (p.His181Gln)
|
|
|
|
NM_032043.3(BRIP1):c.543C>T (p.His181=)
|
rs1285947952
|
|
|
NM_032043.3(BRIP1):c.544A>C (p.Asn182His)
|
|
|
|
NM_032043.3(BRIP1):c.545A>G (p.Asn182Ser)
|
rs2145744130
|
|
|
NM_032043.3(BRIP1):c.546T>C (p.Asn182=)
|
|
|
|
NM_032043.3(BRIP1):c.547T>C (p.Leu183=)
|
|
|
|
NM_032043.3(BRIP1):c.548T>A (p.Leu183Ter)
|
|
|
|
NM_032043.3(BRIP1):c.548del (p.Leu183fs)
|
rs1060501778
|
|
|
NM_032043.3(BRIP1):c.549G>A (p.Leu183=)
|
rs1060504335
|
|
|
NM_032043.3(BRIP1):c.549G>C (p.Leu183Phe)
|
rs1060504335
|
|
|
NM_032043.3(BRIP1):c.550G>A (p.Asp184Asn)
|
rs201047375
|
|
|
NM_032043.3(BRIP1):c.553G>A (p.Ala185Thr)
|
rs745645356
|
|
|
NM_032043.3(BRIP1):c.556A>C (p.Lys186Gln)
|
rs730881624
|
|
|
NM_032043.3(BRIP1):c.558del (p.Val187fs)
|
|
|
|
NM_032043.3(BRIP1):c.559G>T (p.Val187Phe)
|
rs876659064
|
|
|
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs)
|
rs1567878148
|
|
|
NM_032043.3(BRIP1):c.560T>C (p.Val187Ala)
|
rs2078747614
|
|
|
NM_032043.3(BRIP1):c.561del (p.Asp188fs)
|
|
|
|
NM_032043.3(BRIP1):c.566C>A (p.Ser189Ter)
|
|
|
|
NM_032043.3(BRIP1):c.566C>G (p.Ser189Ter)
|
rs1555615763
|
|
|
NM_032043.3(BRIP1):c.566C>T (p.Ser189Leu)
|
rs1555615763
|
|
|
NM_032043.3(BRIP1):c.568G>A (p.Gly190Arg)
|
|
|
|
NM_032043.3(BRIP1):c.568G>T (p.Gly190Ter)
|
|
|
|
NM_032043.3(BRIP1):c.572A>G (p.Lys191Arg)
|
rs748268716
|
|
|
NM_032043.3(BRIP1):c.574A>C (p.Thr192Pro)
|
rs2078747261
|
|
|
NM_032043.3(BRIP1):c.575C>A (p.Thr192Asn)
|
rs1429063662
|
|
|
NM_032043.3(BRIP1):c.576T>C (p.Thr192=)
|
rs781282996
|
|
|
NM_032043.3(BRIP1):c.576del (p.Thr192_Val193insTer)
|
rs876660769
|
|
|
NM_032043.3(BRIP1):c.579A>G (p.Val193=)
|
rs2145743084
|
|
|
NM_032043.3(BRIP1):c.57T>C (p.Tyr19=)
|
rs876659588
|
|
|
NM_032043.3(BRIP1):c.582A>T (p.Lys194Asn)
|
|
|
|
NM_032043.3(BRIP1):c.587A>C (p.Asn196Thr)
|
|
|
|
NM_032043.3(BRIP1):c.588C>G (p.Asn196Lys)
|
rs758851721
|
|
|
NM_032043.3(BRIP1):c.588C>T (p.Asn196=)
|
rs758851721
|
|
|
NM_032043.3(BRIP1):c.589T>C (p.Ser197Pro)
|
rs530897769
|
|
|
NM_032043.3(BRIP1):c.58A>T (p.Lys20Ter)
|
|
|
|
NM_032043.3(BRIP1):c.590C>A (p.Ser197Tyr)
|
rs533184563
|
|
|
NM_032043.3(BRIP1):c.590C>G (p.Ser197Cys)
|
rs533184563
|
|
|
NM_032043.3(BRIP1):c.591T>A (p.Ser197=)
|
|
|
|
NM_032043.3(BRIP1):c.591T>G (p.Ser197=)
|
|
|
|
NM_032043.3(BRIP1):c.592C>A (p.Pro198Thr)
|
|
|
|
NM_032043.3(BRIP1):c.594A>G (p.Pro198=)
|
rs2145742604
|
|
|
NM_032043.3(BRIP1):c.594A>T (p.Pro198=)
|
|
|
|
NM_032043.3(BRIP1):c.597G>A (p.Leu199=)
|
rs2078746387
|
|
|
NM_032043.3(BRIP1):c.597G>C (p.Leu199=)
|
|
|
|
NM_032043.3(BRIP1):c.598G>A (p.Glu200Lys)
|
rs2078746295
|
|
|
NM_032043.3(BRIP1):c.598G>T (p.Glu200Ter)
|
|
|
|
NM_032043.3(BRIP1):c.599A>G (p.Glu200Gly)
|
rs1555615732
|
|
|
NM_032043.3(BRIP1):c.5C>T (p.Ser2Phe)
|
rs751194347
|
|
|
NM_032043.3(BRIP1):c.600A>G (p.Glu200=)
|
|
|
|
NM_032043.3(BRIP1):c.602A>G (p.Lys201Arg)
|
rs1555615729
|
|
|
NM_032043.3(BRIP1):c.603G>A (p.Lys201=)
|
rs1603361579
|
|
|
NM_032043.3(BRIP1):c.603del (p.Lys201_Ile202insTer)
|
|
|
|
NM_032043.3(BRIP1):c.604A>G (p.Ile202Val)
|
rs778275257
|
|
|
NM_032043.3(BRIP1):c.604A>T (p.Ile202Leu)
|
rs778275257
|
|
|
NM_032043.3(BRIP1):c.604del (p.Lys201_Ile202insTer)
|
rs1603361577
|
|
|
NM_032043.3(BRIP1):c.608A>G (p.Asn203Ser)
|
rs2078745913
|
|
|
NM_032043.3(BRIP1):c.608del (p.Asn203fs)
|
rs1603361570
|
|
|
NM_032043.3(BRIP1):c.610T>G (p.Ser204Ala)
|
rs761401027
|
|
|
NM_032043.3(BRIP1):c.611_613del (p.Ser204del)
|
rs1060501731
|
|
|
NM_032043.3(BRIP1):c.612C>A (p.Ser204=)
|
|
|
|
NM_032043.3(BRIP1):c.612C>T (p.Ser204=)
|
|
|
|
NM_032043.3(BRIP1):c.612del (p.Ser206fs)
|
|
|
|
NM_032043.3(BRIP1):c.613T>C (p.Phe205Leu)
|
rs1603361561
|
|
|
NM_032043.3(BRIP1):c.613T>G (p.Phe205Val)
|
rs1603361561
|
|
|
NM_032043.3(BRIP1):c.616del (p.Ser206fs)
|
|
|
|
NM_032043.3(BRIP1):c.618G>A (p.Ser206=)
|
rs367614726
|
|
|
NM_032043.3(BRIP1):c.618G>C (p.Ser206=)
|
rs367614726
|
|
|
NM_032043.3(BRIP1):c.618G>T (p.Ser206=)
|
rs367614726
|
|
|
NM_032043.3(BRIP1):c.620C>T (p.Pro207Leu)
|
rs2145741807
|
|
|
NM_032043.3(BRIP1):c.621A>G (p.Pro207=)
|
|
|
|
NM_032043.3(BRIP1):c.622C>T (p.Gln208Ter)
|
|
|
|
NM_032043.3(BRIP1):c.625A>G (p.Lys209Glu)
|
rs2078745221
|
|
|
NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg)
|
rs748912293
|
|
|
NM_032043.3(BRIP1):c.627+11A>G
|
|
|
|
NM_032043.3(BRIP1):c.627+15C>T
|
|
|
|
NM_032043.3(BRIP1):c.627+1G>A
|
rs587780833
|
|
|
NM_032043.3(BRIP1):c.627+2T>A
|
rs2078745026
|
|
|
NM_032043.3(BRIP1):c.627+2_627+9dup
|
|
|
|
NM_032043.3(BRIP1):c.627+3A>G
|
rs777434654
|
|
|
NM_032043.3(BRIP1):c.627+6T>C
|
|
|
|
NM_032043.3(BRIP1):c.627+7A>G
|
rs1060504334
|
|
|
NM_032043.3(BRIP1):c.627A>G (p.Lys209=)
|
rs1555615717
|
|
|
NM_032043.3(BRIP1):c.627dup (p.Pro210fs)
|
|
|
|
NM_032043.3(BRIP1):c.628-10T>C
|
rs375646029
|
|
|
NM_032043.3(BRIP1):c.628-11del
|
|
|
|
NM_032043.3(BRIP1):c.628-13T>C
|
|
|
|
NM_032043.3(BRIP1):c.628-15T>C
|
|
|
|
NM_032043.3(BRIP1):c.628-15dup
|
rs2078118670
|
|
|
NM_032043.3(BRIP1):c.628-1G>A
|
rs1219435870
|
|
|
NM_032043.3(BRIP1):c.628-1G>T
|
|
|
|
NM_032043.3(BRIP1):c.628-2A>G
|
rs995056553
|
|
|
NM_032043.3(BRIP1):c.628-2A>T
|
rs995056553
|
|
|
NM_032043.3(BRIP1):c.628-2_628-1insACATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTTCTCTACATCCTCTCCAGCTTCTGTTGTTTCCTGACTGTTTAATGATCACCATTCTAACTGGTGTGAGAG
|
|
|
|
NM_032043.3(BRIP1):c.628-2dup
|
|
|
|
NM_032043.3(BRIP1):c.628-3C>T
|
|
|
|
NM_032043.3(BRIP1):c.628-5T>C
|
|
|
|
NM_032043.3(BRIP1):c.628-5_629del
|
rs1555609402
|
|
|
NM_032043.3(BRIP1):c.628-6T>G
|
|
|
|
NM_032043.3(BRIP1):c.628-7C>T
|
rs2145424156
|
|
|
NM_032043.3(BRIP1):c.628-8del
|
rs2145424216
|
|
|
NM_032043.3(BRIP1):c.629C>A (p.Pro210His)
|
rs140097800
|
|
|
NM_032043.3(BRIP1):c.629C>T (p.Pro210Leu)
|
rs140097800
|
|
|
NM_032043.3(BRIP1):c.62C>A (p.Ala21Asp)
|
rs1603368436
|
|
|
NM_032043.3(BRIP1):c.62C>T (p.Ala21Val)
|
rs1603368436
|
|
|
NM_032043.3(BRIP1):c.630C>T (p.Pro210=)
|
rs864622510
|
|
|
NM_032043.3(BRIP1):c.631C>T (p.Pro211Ser)
|
rs2078117905
|
|
|
NM_032043.3(BRIP1):c.632C>T (p.Pro211Leu)
|
rs780026145
|
|
|
NM_032043.3(BRIP1):c.632del (p.Pro211fs)
|
rs1060501779
|
|
|
NM_032043.3(BRIP1):c.633T>C (p.Pro211=)
|
rs1603347066
|
|
|
NM_032043.3(BRIP1):c.634G>A (p.Gly212Ser)
|
rs1555609387
|
|
|
NM_032043.3(BRIP1):c.634G>C (p.Gly212Arg)
|
rs1555609387
|
|
|
NM_032043.3(BRIP1):c.636C>A (p.Gly212=)
|
rs1057520255
|
|
|
NM_032043.3(BRIP1):c.636C>G (p.Gly212=)
|
|
|
|
NM_032043.3(BRIP1):c.637del (p.His213fs)
|
|
|
|
NM_032043.3(BRIP1):c.638A>C (p.His213Pro)
|
rs376760085
|
|
|
NM_032043.3(BRIP1):c.63T>C (p.Ala21=)
|
rs2145864480
|
|
|
NM_032043.3(BRIP1):c.63T>G (p.Ala21=)
|
|
|
|
NM_032043.3(BRIP1):c.643_644insGTGGCACCCC (p.Ser215fs)
|
|
|
|
NM_032043.3(BRIP1):c.644C>A (p.Ser215Tyr)
|
rs12947398
|
|
|
NM_032043.3(BRIP1):c.644C>T (p.Ser215Phe)
|
rs12947398
|
|
|
NM_032043.3(BRIP1):c.644_645del (p.Cys214_Ser215insTer)
|
rs2078117088
|
|
|
NM_032043.3(BRIP1):c.645T>G (p.Ser215=)
|
|
|
|
NM_032043.3(BRIP1):c.646A>G (p.Arg216Gly)
|
rs2078116990
|
|
|
NM_032043.3(BRIP1):c.646del (p.Arg216fs)
|
rs1603347042
|
|
|
NM_032043.3(BRIP1):c.648G>A (p.Arg216=)
|
|
|
|
NM_032043.3(BRIP1):c.649T>A (p.Cys217Ser)
|
rs2145422887
|
|
|
NM_032043.3(BRIP1):c.64T>A (p.Tyr22Asn)
|
rs876659008
|
|
|
NM_032043.3(BRIP1):c.650G>A (p.Cys217Tyr)
|
rs587782156
|
|
|
NM_032043.3(BRIP1):c.650G>T (p.Cys217Phe)
|
rs587782156
|
|
|
NM_032043.3(BRIP1):c.651C>T (p.Cys217=)
|
rs1555609365
|
|
|
NM_032043.3(BRIP1):c.653G>T (p.Cys218Phe)
|
|
|
|
NM_032043.3(BRIP1):c.653GTT[1] (p.Cys219del)
|
rs1555609353
|
|
|
NM_032043.3(BRIP1):c.654T>C (p.Cys218=)
|
rs2145422653
|
|
|
NM_032043.3(BRIP1):c.654T>G (p.Cys218Trp)
|
|
|
|
NM_032043.3(BRIP1):c.656G>A (p.Cys219Tyr)
|
rs587782238
|
|
|
NM_032043.3(BRIP1):c.657T>C (p.Cys219=)
|
|
|
|
NM_032043.3(BRIP1):c.658T>C (p.Ser220Pro)
|
rs1555609351
|
|
|
NM_032043.3(BRIP1):c.65A>C (p.Tyr22Ser)
|
|
|
|
NM_032043.3(BRIP1):c.661A>C (p.Thr221Pro)
|
rs777618772
|
|
|
NM_032043.3(BRIP1):c.663T>C (p.Thr221=)
|
|
|
|
NM_032043.3(BRIP1):c.663T>G (p.Thr221=)
|
|
|
|
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter)
|
rs1603346983
|
|
|
NM_032043.3(BRIP1):c.667C>G (p.Gln223Glu)
|
|
|
|
NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter)
|
rs786201733
|
|
|
NM_032043.3(BRIP1):c.669A>G (p.Gln223=)
|
|
|
|
NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter)
|
rs1603368431
|
|
|
NM_032043.3(BRIP1):c.66C>G (p.Tyr22Ter)
|
rs1603368431
|
|
|
NM_032043.3(BRIP1):c.66C>T (p.Tyr22=)
|
rs1603368431
|
|
|
NM_032043.3(BRIP1):c.670G>C (p.Gly224Arg)
|
rs1567838486
|
|
|
NM_032043.3(BRIP1):c.671G>C (p.Gly224Ala)
|
rs990737815
|
|
|
NM_032043.3(BRIP1):c.672A>C (p.Gly224=)
|
rs752356873
|
|
|
NM_032043.3(BRIP1):c.674dup (p.Asn225fs)
|
|
|
|
NM_032043.3(BRIP1):c.675C>T (p.Asn225=)
|
rs2145421606
|
|
|
NM_032043.3(BRIP1):c.676A>G (p.Ser226Gly)
|
|
|
|
NM_032043.3(BRIP1):c.676dup (p.Ser226fs)
|
|
|
|
NM_032043.3(BRIP1):c.677G>A (p.Ser226Asn)
|
rs2078115717
|
|
|
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)
|
rs45459799
|
|
|
NM_032043.3(BRIP1):c.67C>A (p.Pro23Thr)
|
rs1603368425
|
|
|
NM_032043.3(BRIP1):c.67C>G (p.Pro23Ala)
|
rs1603368425
|
|
|
NM_032043.3(BRIP1):c.680_681del (p.Gln227fs)
|
|
|
|
NM_032043.3(BRIP1):c.681A>G (p.Gln227=)
|
rs1603346946
|
|
|
NM_032043.3(BRIP1):c.681del (p.Glu228fs)
|
|
|
|
NM_032043.3(BRIP1):c.683A>G (p.Glu228Gly)
|
|
|
|
NM_032043.3(BRIP1):c.684G>T (p.Glu228Asp)
|
rs876659909
|
|
|
NM_032043.3(BRIP1):c.685T>C (p.Ser229Pro)
|
rs2145421239
|
|
|
NM_032043.3(BRIP1):c.686C>T (p.Ser229Leu)
|
|
|
|
NM_032043.3(BRIP1):c.688T>C (p.Ser230Pro)
|
rs2145421148
|
|
|
NM_032043.3(BRIP1):c.688del (p.Ser230fs)
|
|
|
|
NM_032043.3(BRIP1):c.68C>G (p.Pro23Arg)
|
|
|
|
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)
|
rs1555618716
|
|
|
NM_032043.3(BRIP1):c.690G>A (p.Ser230=)
|
rs751460179
|
|
|
NM_032043.3(BRIP1):c.690G>C (p.Ser230=)
|
rs751460179
|
|
|
NM_032043.3(BRIP1):c.693T>C (p.Asn231=)
|
|
|
|
NM_032043.3(BRIP1):c.694A>C (p.Thr232Pro)
|
rs2078115132
|
|
|
NM_032043.3(BRIP1):c.695C>G (p.Thr232Ser)
|
rs762781085
|
|
|
NM_032043.3(BRIP1):c.696C>T (p.Thr232=)
|
rs772957320
|
|
|
NM_032043.3(BRIP1):c.697A>G (p.Ile233Val)
|
rs769535320
|
|
|
NM_032043.3(BRIP1):c.699T>C (p.Ile233=)
|
|
|
|
NM_032043.3(BRIP1):c.699del (p.Lys234fs)
|
|
|
|
NM_032043.3(BRIP1):c.700A>C (p.Lys234Gln)
|
rs1060501780
|
|
|
NM_032043.3(BRIP1):c.700A>G (p.Lys234Glu)
|
rs1060501780
|
|
|
NM_032043.3(BRIP1):c.700A>T (p.Lys234Ter)
|
|
|
|
NM_032043.3(BRIP1):c.700AAG[1] (p.Lys235del)
|
rs876659379
|
|
|
NM_032043.3(BRIP1):c.701A>C (p.Lys234Thr)
|
rs587780834
|
|
|
NM_032043.3(BRIP1):c.701A>G (p.Lys234Arg)
|
rs587780834
|
|
|
NM_032043.3(BRIP1):c.706G>C (p.Asp236His)
|
rs1555609300
|
|
|
NM_032043.3(BRIP1):c.707A>T (p.Asp236Val)
|
rs1567838306
|
|
|
NM_032043.3(BRIP1):c.710A>G (p.His237Arg)
|
rs1567838288
|
|
|
NM_032043.3(BRIP1):c.711T>C (p.His237=)
|
rs772048413
|
|
|
NM_032043.3(BRIP1):c.712A>G (p.Thr238Ala)
|
rs1490001091
|
|
|
NM_032043.3(BRIP1):c.717G>A (p.Gly239=)
|
rs2078113961
|
|
|
NM_032043.3(BRIP1):c.719A>C (p.Lys240Thr)
|
rs1350322711
|
|
|
NM_032043.3(BRIP1):c.719A>T (p.Lys240Ile)
|
rs1350322711
|
|
|
NM_032043.3(BRIP1):c.71C>T (p.Ser24Leu)
|
rs1567878087
|
|
|
NM_032043.3(BRIP1):c.71dup (p.Gln25fs)
|
rs2145864140
|
|
|
NM_032043.3(BRIP1):c.720A>G (p.Lys240=)
|
rs1259212372
|
|
|
NM_032043.3(BRIP1):c.720del (p.Lys240fs)
|
rs1567838246
|
|
|
NM_032043.3(BRIP1):c.721T>A (p.Ser241Thr)
|
|
|
|
NM_032043.3(BRIP1):c.723C>T (p.Ser241=)
|
rs1567838225
|
|
|
NM_032043.3(BRIP1):c.725A>G (p.Lys242Arg)
|
rs876660647
|
|
|
NM_032043.3(BRIP1):c.726G>T (p.Lys242Asn)
|
|
|
|
NM_032043.3(BRIP1):c.726_734del (p.Pro244_Ile246del)
|
|
|
|
NM_032043.3(BRIP1):c.727A>T (p.Ile243Leu)
|
rs2078113517
|
|
|
NM_032043.3(BRIP1):c.727dup (p.Ile243fs)
|
|
|
|
NM_032043.3(BRIP1):c.730C>G (p.Pro244Ala)
|
|
|
|
NM_032043.3(BRIP1):c.730_738del (p.Pro244_Ile246del)
|
rs1603346861
|
|
|
NM_032043.3(BRIP1):c.731C>G (p.Pro244Arg)
|
rs2145419213
|
|
|
NM_032043.3(BRIP1):c.732C>G (p.Pro244=)
|
|
|
|
NM_032043.3(BRIP1):c.732C>T (p.Pro244=)
|
rs786202300
|
|
|
NM_032043.3(BRIP1):c.734A>G (p.Lys245Arg)
|
rs1064795594
|
|
|
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter)
|
rs1603346857
|
|
|
NM_032043.3(BRIP1):c.735A>C (p.Lys245Asn)
|
|
|
|
NM_032043.3(BRIP1):c.735A>G (p.Lys245=)
|
rs2145419080
|
|
|
NM_032043.3(BRIP1):c.736A>C (p.Ile246Leu)
|
rs376893571
|
|
|
NM_032043.3(BRIP1):c.736A>T (p.Ile246Leu)
|
rs376893571
|
|
|
NM_032043.3(BRIP1):c.737T>G (p.Ile246Arg)
|
|
|
|
NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter)
|
rs2078971612
|
|
|
NM_032043.3(BRIP1):c.73_74insGAC (p.Ser24_Gln25insArg)
|
rs2145864048
|
|
|
NM_032043.3(BRIP1):c.73_93+14del
|
rs2145863122
|
|
|
NM_032043.3(BRIP1):c.741T>C (p.Tyr247=)
|
|
|
|
NM_032043.3(BRIP1):c.743T>C (p.Phe248Ser)
|
rs2078112912
|
|
|
NM_032043.3(BRIP1):c.746G>A (p.Gly249Glu)
|
rs2078112856
|
|
|
NM_032043.3(BRIP1):c.747G>A (p.Gly249=)
|
rs2145418607
|
|
|
NM_032043.3(BRIP1):c.748A>T (p.Thr250Ser)
|
rs2078112756
|
|
|
NM_032043.3(BRIP1):c.749C>G (p.Thr250Arg)
|
rs1555609275
|
|
|
NM_032043.3(BRIP1):c.749C>T (p.Thr250Ile)
|
rs1555609275
|
|
|
NM_032043.3(BRIP1):c.750A>T (p.Thr250=)
|
rs1057522393
|
|
|
NM_032043.3(BRIP1):c.752G>C (p.Arg251Pro)
|
rs780834054
|
|
|
NM_032043.3(BRIP1):c.754A>C (p.Thr252Pro)
|
|
|
|
NM_032043.3(BRIP1):c.754A>G (p.Thr252Ala)
|
rs1567838131
|
|
|
NM_032043.3(BRIP1):c.755C>T (p.Thr252Ile)
|
rs1567838124
|
|
|
NM_032043.3(BRIP1):c.756A>G (p.Thr252=)
|
|
|
|
NM_032043.3(BRIP1):c.757C>G (p.His253Asp)
|
rs2078112338
|
|
|
NM_032043.3(BRIP1):c.758A>G (p.His253Arg)
|
rs2078112284
|
|
|
NM_032043.3(BRIP1):c.759C>G (p.His253Gln)
|
|
|
|
NM_032043.3(BRIP1):c.759_760dup (p.Lys254fs)
|
rs2078112240
|
|
|
NM_032043.3(BRIP1):c.75G>A (p.Gln25=)
|
rs1555618712
|
|
|
NM_032043.3(BRIP1):c.761A>G (p.Lys254Arg)
|
rs2145417925
|
|
|
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs)
|
rs2078112057
|
|
|
NM_032043.3(BRIP1):c.764A>C (p.Gln255Pro)
|
rs1567838107
|
|
|
NM_032043.3(BRIP1):c.764A>G (p.Gln255Arg)
|
rs1567838107
|
|
|
NM_032043.3(BRIP1):c.765G>A (p.Gln255=)
|
rs2078111971
|
|
|
NM_032043.3(BRIP1):c.765G>C (p.Gln255His)
|
|
|
|
NM_032043.3(BRIP1):c.766A>G (p.Ile256Val)
|
rs2145417649
|
|
|
NM_032043.3(BRIP1):c.768T>C (p.Ile256=)
|
rs1452578169
|
|
|
NM_032043.3(BRIP1):c.769G>A (p.Ala257Thr)
|
rs754515912
|
|
|
NM_032043.3(BRIP1):c.769_777dup (p.Ala257_Ile259dup)
|
rs1603346813
|
|
|
NM_032043.3(BRIP1):c.770C>T (p.Ala257Val)
|
rs1555609260
|
|
|
NM_032043.3(BRIP1):c.772C>T (p.Gln258Ter)
|
rs1555609257
|
|
|
NM_032043.3(BRIP1):c.773A>C (p.Gln258Pro)
|
rs1567838078
|
|
|
NM_032043.3(BRIP1):c.775A>G (p.Ile259Val)
|
rs2145417254
|
|
|
NM_032043.3(BRIP1):c.775A>T (p.Ile259Phe)
|
|
|
|
NM_032043.3(BRIP1):c.775dup (p.Ile259fs)
|
|
|
|
NM_032043.3(BRIP1):c.777del (p.Thr260fs)
|
|
|
|
NM_032043.3(BRIP1):c.777dup (p.Thr260fs)
|
rs1555609254
|
|
|
NM_032043.3(BRIP1):c.779del (p.Thr260fs)
|
|
|
|
NM_032043.3(BRIP1):c.77T>C (p.Leu26Pro)
|
rs1603368414
|
|
|
NM_032043.3(BRIP1):c.77T>G (p.Leu26Arg)
|
rs1603368414
|
|
|
NM_032043.3(BRIP1):c.781A>G (p.Arg261Gly)
|
rs2078111313
|
|
|
NM_032043.3(BRIP1):c.783A>T (p.Arg261Ser)
|
rs1441703380
|
|
|
NM_032043.3(BRIP1):c.784G>A (p.Glu262Lys)
|
rs2145416868
|
|
|
NM_032043.3(BRIP1):c.785A>C (p.Glu262Ala)
|
rs876658283
|
|
|
NM_032043.3(BRIP1):c.786G>A (p.Glu262=)
|
rs876658312
|
|
|
NM_032043.3(BRIP1):c.786G>T (p.Glu262Asp)
|
|
|
|
NM_032043.3(BRIP1):c.787C>G (p.Leu263Val)
|
rs1060501776
|
|
|
NM_032043.3(BRIP1):c.788T>C (p.Leu263Pro)
|
|
|
|
NM_032043.3(BRIP1):c.788del (p.Leu263fs)
|
|
|
|
NM_032043.3(BRIP1):c.789C>A (p.Leu263=)
|
rs1603346789
|
|
|
NM_032043.3(BRIP1):c.789C>G (p.Leu263=)
|
rs1603346789
|
|
|
NM_032043.3(BRIP1):c.789C>T (p.Leu263=)
|
rs1603346789
|
|
|
NM_032043.3(BRIP1):c.78dup (p.Ala27fs)
|
rs1555618709
|
|
|
NM_032043.3(BRIP1):c.790C>A (p.Arg264=)
|
|
|
|
NM_032043.3(BRIP1):c.790C>G (p.Arg264Gly)
|
rs28997569
|
|
|
NM_032043.3(BRIP1):c.792G>C (p.Arg264=)
|
|
|
|
NM_032043.3(BRIP1):c.792G>T (p.Arg264=)
|
rs1555609230
|
|
|
NM_032043.3(BRIP1):c.793A>G (p.Arg265Gly)
|
rs876659650
|
|
|
NM_032043.3(BRIP1):c.795G>T (p.Arg265Ser)
|
rs61754143
|
|
|
NM_032043.3(BRIP1):c.798G>A (p.Thr266=)
|
rs1260055674
|
|
|
NM_032043.3(BRIP1):c.7_11del (p.Ser3fs)
|
rs1603368490
|
|
|
NM_032043.3(BRIP1):c.800C>T (p.Ala267Val)
|
rs730881631
|
|
|
NM_032043.3(BRIP1):c.803A>G (p.Tyr268Cys)
|
rs2078110465
|
|
|
NM_032043.3(BRIP1):c.804T>C (p.Tyr268=)
|
rs587782514
|
|
|
NM_032043.3(BRIP1):c.804T>G (p.Tyr268Ter)
|
rs587782514
|
|
|
NM_032043.3(BRIP1):c.805T>C (p.Ser269Pro)
|
rs2078110345
|
|
|
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
|
|
|
|
NM_032043.3(BRIP1):c.806C>T (p.Ser269Leu)
|
rs1412610651
|
|
|
NM_032043.3(BRIP1):c.807A>G (p.Ser269=)
|
|
|
|
NM_032043.3(BRIP1):c.807_826del (p.Gly270fs)
|
|
|
|
NM_032043.3(BRIP1):c.808G>A (p.Gly270Arg)
|
rs1401241698
|
|
|
NM_032043.3(BRIP1):c.811dup (p.Val271fs)
|
|
|
|
NM_032043.3(BRIP1):c.812T>A (p.Val271Asp)
|
|
|
|
NM_032043.3(BRIP1):c.815C>T (p.Pro272Leu)
|
|
|
|
NM_032043.3(BRIP1):c.815dup (p.Met273fs)
|
|
|
|
NM_032043.3(BRIP1):c.816A>C (p.Pro272=)
|
rs765027420
|
|
|
NM_032043.3(BRIP1):c.816A>G (p.Pro272=)
|
rs765027420
|
|
|
NM_032043.3(BRIP1):c.817A>C (p.Met273Leu)
|
rs587781797
|
|
|
NM_032043.3(BRIP1):c.817A>G (p.Met273Val)
|
rs587781797
|
|
|
NM_032043.3(BRIP1):c.817dup (p.Met273fs)
|
|
|
|
NM_032043.3(BRIP1):c.819G>T (p.Met273Ile)
|
rs2145415194
|
|
|
NM_032043.3(BRIP1):c.819_824del (p.Met273_Thr274del)
|
rs2145414960
|
|
|
NM_032043.3(BRIP1):c.81T>C (p.Ala27=)
|
|
|
|
NM_032043.3(BRIP1):c.822T>C (p.Thr274=)
|
|
|
|
NM_032043.3(BRIP1):c.823A>C (p.Ile275Leu)
|
|
|
|
NM_032043.3(BRIP1):c.823A>T (p.Ile275Phe)
|
rs587781425
|
|
|
NM_032043.3(BRIP1):c.826C>T (p.Leu276Phe)
|
|
|
|
NM_032043.3(BRIP1):c.82A>G (p.Met28Val)
|
rs1330147176
|
|
|
NM_032043.3(BRIP1):c.82A>T (p.Met28Leu)
|
rs1330147176
|
|
|
NM_032043.3(BRIP1):c.831C>T (p.Ser277=)
|
rs45549332
|
|
|
NM_032043.3(BRIP1):c.832A>C (p.Ser278Arg)
|
rs1567837876
|
|
|
NM_032043.3(BRIP1):c.832A>G (p.Ser278Gly)
|
rs1567837876
|
|
|
NM_032043.3(BRIP1):c.834C>T (p.Ser278=)
|
rs1060501725
|
|
|
NM_032043.3(BRIP1):c.836G>A (p.Arg279Lys)
|
|
|
|
NM_032043.3(BRIP1):c.837G>A (p.Arg279=)
|
|
|
|
NM_032043.3(BRIP1):c.837G>C (p.Arg279Ser)
|
rs759584091
|
|
|
NM_032043.3(BRIP1):c.837G>T (p.Arg279Ser)
|
rs759584091
|
|
|
NM_032043.3(BRIP1):c.838G>T (p.Asp280Tyr)
|
rs2078109366
|
|
|
NM_032043.3(BRIP1):c.839A>G (p.Asp280Gly)
|
rs1555609193
|
|
|
NM_032043.3(BRIP1):c.839A>T (p.Asp280Val)
|
|
|
|
NM_032043.3(BRIP1):c.83T>A (p.Met28Lys)
|
rs786202674
|
|
|
NM_032043.3(BRIP1):c.840del (p.His281fs)
|
rs1555609191
|
|
|
NM_032043.3(BRIP1):c.841C>A (p.His281Asn)
|
rs1064795442
|
|
|
NM_032043.3(BRIP1):c.842A>C (p.His281Pro)
|
rs1603346710
|
|
|
NM_032043.3(BRIP1):c.842A>G (p.His281Arg)
|
|
|
|
NM_032043.3(BRIP1):c.843T>C (p.His281=)
|
rs1555609187
|
|
|
NM_032043.3(BRIP1):c.844dup (p.Thr282fs)
|
rs2145414039
|
|
|
NM_032043.3(BRIP1):c.845C>T (p.Thr282Ile)
|
rs45624635
|
|
|
NM_032043.3(BRIP1):c.846T>C (p.Thr282=)
|
rs2145413899
|
|
|
NM_032043.3(BRIP1):c.847T>C (p.Cys283Arg)
|
rs1555609186
|
|
|
NM_032043.3(BRIP1):c.847T>G (p.Cys283Gly)
|
rs1555609186
|
|
|
NM_032043.3(BRIP1):c.848G>A (p.Cys283Tyr)
|
rs771096783
|
|
|
NM_032043.3(BRIP1):c.848G>T (p.Cys283Phe)
|
rs771096783
|
|
|
NM_032043.3(BRIP1):c.84dup (p.Met29fs)
|
|
|
|
NM_032043.3(BRIP1):c.850dup (p.Val284fs)
|
|
|
|
NM_032043.3(BRIP1):c.851T>C (p.Val284Ala)
|
|
|
|
NM_032043.3(BRIP1):c.854A>C (p.His285Pro)
|
rs141055990
|
|
|
NM_032043.3(BRIP1):c.855T>C (p.His285=)
|
|
|
|
NM_032043.3(BRIP1):c.856C>T (p.Pro286Ser)
|
rs770289817
|
|
|
NM_032043.3(BRIP1):c.857C>G (p.Pro286Arg)
|
rs2078108519
|
|
|
NM_032043.3(BRIP1):c.858T>C (p.Pro286=)
|
rs2145413343
|
|
|
NM_032043.3(BRIP1):c.85A>G (p.Met29Val)
|
rs2078971287
|
|
|
NM_032043.3(BRIP1):c.861G>A (p.Glu287=)
|
|
|
|
NM_032043.3(BRIP1):c.861G>C (p.Glu287Asp)
|
rs1603346684
|
|
|
NM_032043.3(BRIP1):c.863T>C (p.Val288Ala)
|
rs1375475281
|
|
|
NM_032043.3(BRIP1):c.864A>G (p.Val288=)
|
rs748545827
|
|
|
NM_032043.3(BRIP1):c.865G>A (p.Val289Ile)
|
rs1567837768
|
|
|
NM_032043.3(BRIP1):c.865G>C (p.Val289Leu)
|
rs1567837768
|
|
|
NM_032043.3(BRIP1):c.866T>G (p.Val289Gly)
|
rs2078108215
|
|
|
NM_032043.3(BRIP1):c.866del (p.Val289fs)
|
rs864622166
|
|
|
NM_032043.3(BRIP1):c.867C>A (p.Val289=)
|
rs147739458
|
|
|
NM_032043.3(BRIP1):c.867C>G (p.Val289=)
|
rs147739458
|
|
|
NM_032043.3(BRIP1):c.868G>A (p.Gly290Ser)
|
rs145601931
|
|
|
NM_032043.3(BRIP1):c.869G>C (p.Gly290Ala)
|
rs148556781
|
|
|
NM_032043.3(BRIP1):c.871_872del (p.Asn291fs)
|
|
|
|
NM_032043.3(BRIP1):c.872A>G (p.Asn291Ser)
|
|
|
|
NM_032043.3(BRIP1):c.875del (p.Phe292fs)
|
rs2078107930
|
|
|
NM_032043.3(BRIP1):c.876C>T (p.Phe292=)
|
|
|
|
NM_032043.3(BRIP1):c.876del (p.Phe292fs)
|
rs1555609162
|
|
|
NM_032043.3(BRIP1):c.87G>T (p.Met29Ile)
|
rs769585673
|
|
|
NM_032043.3(BRIP1):c.885T>C (p.Asn295=)
|
|
|
|
NM_032043.3(BRIP1):c.885T>G (p.Asn295Lys)
|
|
|
|
NM_032043.3(BRIP1):c.886G>A (p.Glu296Lys)
|
rs876660125
|
|
|
NM_032043.3(BRIP1):c.887A>C (p.Glu296Ala)
|
rs878855158
|
|
|
NM_032043.3(BRIP1):c.888G>A (p.Glu296=)
|
|
|
|
NM_032043.3(BRIP1):c.888G>C (p.Glu296Asp)
|
rs876658249
|
|
|
NM_032043.3(BRIP1):c.889A>C (p.Lys297Gln)
|
rs876658528
|
|
|
NM_032043.3(BRIP1):c.88A>C (p.Asn30His)
|
|
|
|
NM_032043.3(BRIP1):c.890A>C (p.Lys297Thr)
|
rs28997570
|
|
|
NM_032043.3(BRIP1):c.890A>T (p.Lys297Met)
|
|
|
|
NM_032043.3(BRIP1):c.890_891insT (p.Lys297fs)
|
rs878855159
|
|
|
NM_032043.3(BRIP1):c.890del (p.Lys297fs)
|
rs786202610
|
|
|
NM_032043.3(BRIP1):c.892T>C (p.Cys298Arg)
|
rs1555609145
|
|
|
NM_032043.3(BRIP1):c.893G>A (p.Cys298Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.894C>G (p.Cys298Trp)
|
|
|
|
NM_032043.3(BRIP1):c.894C>T (p.Cys298=)
|
rs2078107086
|
|
|
NM_032043.3(BRIP1):c.895A>C (p.Met299Leu)
|
|
|
|
NM_032043.3(BRIP1):c.895A>G (p.Met299Val)
|
rs1242769076
|
|
|
NM_032043.3(BRIP1):c.896T>C (p.Met299Thr)
|
rs2078106961
|
|
|
NM_032043.3(BRIP1):c.897G>A (p.Met299Ile)
|
rs137852985
|
|
|
NM_032043.3(BRIP1):c.8C>A (p.Ser3Ter)
|
rs1603368491
|
|
|
NM_032043.3(BRIP1):c.901T>C (p.Leu301=)
|
rs2145411199
|
|
|
NM_032043.3(BRIP1):c.901T>G (p.Leu301Val)
|
|
|
|
NM_032043.3(BRIP1):c.902T>C (p.Leu301Ser)
|
rs750376292
|
|
|
NM_032043.3(BRIP1):c.903G>A (p.Leu301=)
|
rs876660578
|
|
|
NM_032043.3(BRIP1):c.903del (p.Leu301fs)
|
rs876659490
|
|
|
NM_032043.3(BRIP1):c.905T>C (p.Leu302Pro)
|
|
|
|
NM_032043.3(BRIP1):c.906A>G (p.Leu302=)
|
|
|
|
NM_032043.3(BRIP1):c.907G>T (p.Asp303Tyr)
|
rs2145410870
|
|
|
NM_032043.3(BRIP1):c.908A>G (p.Asp303Gly)
|
rs1555609130
|
|
|
NM_032043.3(BRIP1):c.909T>C (p.Asp303=)
|
|
|
|
NM_032043.3(BRIP1):c.910G>A (p.Gly304Arg)
|
rs1567837588
|
|
|
NM_032043.3(BRIP1):c.911G>A (p.Gly304Glu)
|
rs1459305482
|
|
|
NM_032043.3(BRIP1):c.912G>A (p.Gly304=)
|
rs786201326
|
|
|
NM_032043.3(BRIP1):c.912G>C (p.Gly304=)
|
rs786201326
|
|
|
NM_032043.3(BRIP1):c.914A>C (p.Lys305Thr)
|
|
|
|
NM_032043.3(BRIP1):c.917A>G (p.Asn306Ser)
|
rs1567837564
|
|
|
NM_032043.3(BRIP1):c.917dup (p.Asn306fs)
|
rs1555609121
|
|
|
NM_032043.3(BRIP1):c.918+10G>A
|
rs1365605495
|
|
|
NM_032043.3(BRIP1):c.918+10G>C
|
|
|
|
NM_032043.3(BRIP1):c.918+12T>G
|
|
|
|
NM_032043.3(BRIP1):c.918+14T>C
|
rs757068323
|
|
|
NM_032043.3(BRIP1):c.918+14T>G
|
|
|
|
NM_032043.3(BRIP1):c.918+17T>C
|
|
|
|
NM_032043.3(BRIP1):c.918+17del
|
|
|
|
NM_032043.3(BRIP1):c.918+2790_1121del
|
|
|
|
NM_032043.3(BRIP1):c.918+2_918+3del
|
rs2145410258
|
|
|
NM_032043.3(BRIP1):c.918+5G>A
|
rs2078106072
|
|
|
NM_032043.3(BRIP1):c.918+7A>G
|
rs1060504329
|
|
|
NM_032043.3(BRIP1):c.918+8A>C
|
rs765147876
|
|
|
NM_032043.3(BRIP1):c.918+9A>G
|
rs2145410020
|
|
|
NM_032043.3(BRIP1):c.918C>T (p.Asn306=)
|
rs876660724
|
|
|
NM_032043.3(BRIP1):c.918del (p.Asn306fs)
|
rs1555609116
|
|
|
NM_032043.3(BRIP1):c.919-10T>A
|
|
|
|
NM_032043.3(BRIP1):c.919-12A>G
|
|
|
|
NM_032043.3(BRIP1):c.919-13T>C
|
|
|
|
NM_032043.3(BRIP1):c.919-14A>G
|
rs928815517
|
|
|
NM_032043.3(BRIP1):c.919-14A>T
|
|
|
|
NM_032043.3(BRIP1):c.919-16G>A
|
|
|
|
NM_032043.3(BRIP1):c.919-16G>T
|
|
|
|
NM_032043.3(BRIP1):c.919-16del
|
|
|
|
NM_032043.3(BRIP1):c.919-17dup
|
|
|
|
NM_032043.3(BRIP1):c.919-18A>C
|
|
|
|
NM_032043.3(BRIP1):c.919-18A>T
|
rs773910941
|
|
|
NM_032043.3(BRIP1):c.919-1G>A
|
|
|
|
NM_032043.3(BRIP1):c.919-3T>C
|
rs2077994124
|
|
|
NM_032043.3(BRIP1):c.919-4C>T
|
|
|
|
NM_032043.3(BRIP1):c.919-8G>A
|
rs777079928
|
|
|
NM_032043.3(BRIP1):c.920G>A (p.Gly307Glu)
|
rs1603343427
|
|
|
NM_032043.3(BRIP1):c.920G>C (p.Gly307Ala)
|
rs1603343427
|
|
|
NM_032043.3(BRIP1):c.921A>G (p.Gly307=)
|
rs786202337
|
|
|
NM_032043.3(BRIP1):c.926C>A (p.Ser309Tyr)
|
rs2077993753
|
|
|
NM_032043.3(BRIP1):c.926C>T (p.Ser309Phe)
|
rs2077993753
|
|
|
NM_032043.3(BRIP1):c.929G>A (p.Cys310Tyr)
|
rs1567832184
|
|
|
NM_032043.3(BRIP1):c.929G>C (p.Cys310Ser)
|
rs1567832184
|
|
|
NM_032043.3(BRIP1):c.929_931del (p.Cys310del)
|
rs2145342477
|
|
|
NM_032043.3(BRIP1):c.93+10T>A
|
rs2145863247
|
|
|
NM_032043.3(BRIP1):c.93+11_93+12dup
|
rs1064794767
|
|
|
NM_032043.3(BRIP1):c.93+14A>C
|
|
|
|
NM_032043.3(BRIP1):c.93+15G>T
|
rs113052745
|
|
|
NM_032043.3(BRIP1):c.93+17A>G
|
rs778826728
|
|
|
NM_032043.3(BRIP1):c.93+1G>A
|
rs587782047
|
|
|
NM_032043.3(BRIP1):c.93+1G>C
|
|
|
|
NM_032043.3(BRIP1):c.93+1G>T
|
rs587782047
|
|
|
NM_032043.3(BRIP1):c.93+2T>C
|
rs775755739
|
|
|
NM_032043.3(BRIP1):c.93+2del
|
|
|
|
NM_032043.3(BRIP1):c.93+3A>C
|
|
|
|
NM_032043.3(BRIP1):c.93+4A>T
|
|
|
|
NM_032043.3(BRIP1):c.93+4_93+7del
|
rs1224034842
|
|
|
NM_032043.3(BRIP1):c.93+5G>A
|
rs730881629
|
|
|
NM_032043.3(BRIP1):c.93+6T>C
|
rs2078970954
|
|
|
NM_032043.3(BRIP1):c.93+7A>G
|
|
|
|
NM_032043.3(BRIP1):c.93+8T>C
|
|
|
|
NM_032043.3(BRIP1):c.93+8T>G
|
rs1567878012
|
|
|
NM_032043.3(BRIP1):c.93+9T>A
|
|
|
|
NM_032043.3(BRIP1):c.930C>T (p.Cys310=)
|
|
|
|
NM_032043.3(BRIP1):c.931T>C (p.Tyr311His)
|
rs1603343412
|
|
|
NM_032043.3(BRIP1):c.932A>T (p.Tyr311Phe)
|
rs587782731
|
|
|
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs)
|
rs1555607792
|
|
|
NM_032043.3(BRIP1):c.932del (p.Tyr311fs)
|
rs587778138
|
|
|
NM_032043.3(BRIP1):c.934T>A (p.Phe312Ile)
|
rs2145342258
|
|
|
NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)
|
|
|
|
NM_032043.3(BRIP1):c.939T>G (p.Tyr313Ter)
|
rs1436085018
|
|
|
NM_032043.3(BRIP1):c.93T>C (p.Ser31=)
|
rs1555618697
|
|
|
NM_032043.3(BRIP1):c.94-10del
|
rs2145853311
|
|
|
NM_032043.3(BRIP1):c.94-12C>T
|
|
|
|
NM_032043.3(BRIP1):c.94-16G>C
|
|
|
|
NM_032043.3(BRIP1):c.94-19T>C
|
|
|
|
NM_032043.3(BRIP1):c.94-1G>A
|
|
|
|
NM_032043.3(BRIP1):c.94-4A>T
|
rs765154059
|
|
|
NM_032043.3(BRIP1):c.94-5C>G
|
rs2078952191
|
|
|
NM_032043.3(BRIP1):c.94-6del
|
|
|
|
NM_032043.3(BRIP1):c.94-7_178dup
|
rs1555618396
|
|
|
NM_032043.3(BRIP1):c.94-8G>A
|
|
|
|
NM_032043.3(BRIP1):c.94-8G>T
|
rs750361927
|
|
|
NM_032043.3(BRIP1):c.940C>T (p.His314Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.941A>G (p.His314Arg)
|
rs112076926
|
|
|
NM_032043.3(BRIP1):c.942T>C (p.His314=)
|
|
|
|
NM_032043.3(BRIP1):c.942del (p.His314fs)
|
rs2077993152
|
|
|
NM_032043.3(BRIP1):c.944G>A (p.Gly315Glu)
|
rs867548960
|
|
|
NM_032043.3(BRIP1):c.944G>T (p.Gly315Val)
|
rs867548960
|
|
|
NM_032043.3(BRIP1):c.945A>G (p.Gly315=)
|
|
|
|
NM_032043.3(BRIP1):c.945A>T (p.Gly315=)
|
|
|
|
NM_032043.3(BRIP1):c.948del (p.His317fs)
|
|
|
|
NM_032043.3(BRIP1):c.949C>G (p.His317Asp)
|
|
|
|
NM_032043.3(BRIP1):c.94A>T (p.Ile32Phe)
|
rs776386693
|
|
|
NM_032043.3(BRIP1):c.951T>C (p.His317=)
|
rs1555607785
|
|
|
NM_032043.3(BRIP1):c.953A>G (p.Lys318Arg)
|
rs2077992906
|
|
|
NM_032043.3(BRIP1):c.957T>C (p.Ile319=)
|
|
|
|
NM_032043.3(BRIP1):c.958A>G (p.Ser320Gly)
|
rs2145341128
|
|
|
NM_032043.3(BRIP1):c.958del (p.Ser320fs)
|
rs864622236
|
|
|
NM_032043.3(BRIP1):c.961G>A (p.Asp321Asn)
|
|
|
|
NM_032043.3(BRIP1):c.962A>G (p.Asp321Gly)
|
rs2077992652
|
|
|
NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter)
|
rs587778139
|
|
|
NM_032043.3(BRIP1):c.964del (p.Gln322fs)
|
|
|
|
NM_032043.3(BRIP1):c.965A>G (p.Gln322Arg)
|
rs1567832102
|
|
|
NM_032043.3(BRIP1):c.966G>A (p.Gln322=)
|
rs2145340652
|
|
|
NM_032043.3(BRIP1):c.967C>T (p.His323Tyr)
|
rs2077992477
|
|
|
NM_032043.3(BRIP1):c.969C>A (p.His323Gln)
|
rs1555607775
|
|
|
NM_032043.3(BRIP1):c.969C>G (p.His323Gln)
|
rs1555607775
|
|
|
NM_032043.3(BRIP1):c.969C>T (p.His323=)
|
rs1555607775
|
|
|
NM_032043.3(BRIP1):c.96del (p.Leu33fs)
|
rs1603367753
|
|
|
NM_032043.3(BRIP1):c.971del (p.Thr324fs)
|
|
|
|
NM_032043.3(BRIP1):c.972A>G (p.Thr324=)
|
rs779627397
|
|
|
NM_032043.3(BRIP1):c.975A>T (p.Leu325Phe)
|
rs771630777
|
|
|
NM_032043.3(BRIP1):c.976C>G (p.Gln326Glu)
|
rs1555607768
|
|
|
NM_032043.3(BRIP1):c.976C>T (p.Gln326Ter)
|
|
|
|
NM_032043.3(BRIP1):c.977A>G (p.Gln326Arg)
|
rs1064794046
|
|
|
NM_032043.3(BRIP1):c.978G>A (p.Gln326=)
|
rs1555607764
|
|
|
NM_032043.3(BRIP1):c.97C>G (p.Leu33Val)
|
|
|
|
NM_032043.3(BRIP1):c.980C>T (p.Thr327Ile)
|
rs2145339793
|
|
|
NM_032043.3(BRIP1):c.981T>A (p.Thr327=)
|
rs2145339751
|
|
|
NM_032043.3(BRIP1):c.983T>A (p.Phe328Tyr)
|
|
|
|
NM_032043.3(BRIP1):c.983T>C (p.Phe328Ser)
|
rs876659057
|
|
|
NM_032043.3(BRIP1):c.984_990del (p.Phe328fs)
|
rs2145339188
|
|
|
NM_032043.3(BRIP1):c.985C>T (p.Gln329Ter)
|
rs2077991700
|
|
|
NM_032043.3(BRIP1):c.985del (p.Gln329fs)
|
|
|
|
NM_032043.3(BRIP1):c.986A>G (p.Gln329Arg)
|
rs778863018
|
|
|
NM_032043.3(BRIP1):c.990G>A (p.Gly330=)
|
rs1060504320
|
|
|
NM_032043.3(BRIP1):c.992T>A (p.Met331Lys)
|
|
|
|
NM_032043.3(BRIP1):c.993G>A (p.Met331Ile)
|
rs587780252
|
|
|
NM_032043.3(BRIP1):c.995G>A (p.Cys332Tyr)
|
rs876660521
|
|
|
NM_032043.3(BRIP1):c.997A>G (p.Lys333Glu)
|
rs757196702
|
|
|
NM_032043.3(BRIP1):c.998A>G (p.Lys333Arg)
|
rs2145338700
|
|
|
NM_032043.3(BRIP1):c.99C>G (p.Leu33=)
|
rs1567877092
|
|
|
NM_032043.3(BRIP1):c.99C>T (p.Leu33=)
|
|
|
|
NM_032229.3(SLITRK6):c.1915dup (p.Tyr639fs)
|
rs869312872
|
|
|
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)
|
rs137976282
|
|
|
NM_032444.4(SLX4):c.4423A>G (p.Thr1475Ala)
|
rs1596519823
|
|
|
NM_032854.4(CORO6):c.1348G>A (p.Val450Met)
|
rs772136445
|
|
|
NM_033238.3(PML):c.2264G>C (p.Arg755Pro)
|
rs780746013
|
|
|
NM_033360.4(KRAS):c.*101_*106del
|
rs1339924833
|
|
|
NM_033360.4(KRAS):c.176C>T (p.Ala59Val)
|
rs104886029
|
|
|
NM_058216.3(RAD51C):c.12G>A (p.Lys4=)
|
rs781166242
|
|
|
NM_058216.3(RAD51C):c.180T>C (p.Thr60=)
|
rs755092293
|
|
|
NM_058216.3(RAD51C):c.323A>G (p.Asp108Gly)
|
rs1555593745
|
|
|
NM_058216.3(RAD51C):c.394dup (p.Thr132fs)
|
rs730881940
|
|
|
NM_058216.3(RAD51C):c.475G>A (p.Asp159Asn)
|
rs775213492
|
|
|
NM_058216.3(RAD51C):c.619C>T (p.His207Tyr)
|
|
|
|
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)
|
rs587782818
|
|
|
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn)
|
rs755849719
|
|
|
NM_058216.3(RAD51C):c.81G>A (p.Leu27=)
|
rs1311969744
|
|
|
NM_058216.3(RAD51C):c.907G>T (p.Glu303Ter)
|
rs2143961266
|
|
|
NM_058216.3(RAD51C):c.966-2_1026+1del
|
rs2144044038
|
|
|
NM_139076.3(ABRAXAS1):c.1106G>A (p.Arg369Gln)
|
|
|
|
NM_144689.5(ZNF420):c.362A>G (p.Asn121Ser)
|
rs771433810
|
|
|
NM_152643.8(KNDC1):c.2914G>T (p.Glu972Ter)
|
rs869025238
|
|
|
NM_175884.6(CCDC71L):c.478A>C (p.Ser160Arg)
|
rs869025233
|
|
|
NM_198148.3(CPXM2):c.497G>A (p.Gly166Glu)
|
rs869025241
|
|
|
PALB2:c.2515-1G>T
|
rs587776417
|
|
|
Single allele
|
|
|
|
TSG101, VAL-ALA, 1162T-C
|
|
|
|
chr11:1092954..1857751 complex variant
|
|
|
|
chr12:10074776-18800953 complex variant
|
|
|
|
chr12:4920767-5603935 complex variant
|
|
|
|
chr14:104643721..105932775 complex variant
|
|
|
|
chr17:45008570..45994044 complex variant
|
|
|
|
chr19:19230868-24115369 complex variant
|
|
|
|
chr19:36674305-38652962 complex variant
|
|
|
|
chr19:44501518-45322744 complex variant
|
|
|
|
chr19:54754752-55624113 complex variant
|
|
|
|
chr19:55143156-55294969 complex variant
|
|
|
|
chr19:56133299..57648277 complex variant
|
|
|
|
chr1:16902894-17264939 complex variant
|
|
|
|
chr1:17555508-24706269 complex variant
|
|
|
|
chr1:248525146-248525657 complex variant
|
|
|
|
chr1:909238-16736132 complex variant
|
|
|
|
chr20:60885242-61929348 complex variant
|
|
|
|
chr20:61880169-61908597 complex variant
|
|
|
|
chr21:45970718..47545826 complex variant
|
|
|
|
chr2:130949553-130952725 complex variant
|
|
|
|
chr4:88537276..88537405 complex variant
|
|
|
|
chr6:29910378..30075843 complex variant
|
|
|
|
chr6:29910602..29912297 complex variant
|
|
|
|
chr6:31237124-31378388 complex variant
|
|
|
|
chr6:32609097-32629809 complex variant
|
|
|
|
chr9:21187003-21228040 complex variant
|
|
|
|
nsv1067861
|
|
|