NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=)
|
rs206075
|
0.97986
|
NM_000059.4(BRCA2):c.7806-14T>C
|
rs9534262
|
0.53977
|
NM_000059.4(BRCA2):c.8755-66T>C
|
rs4942486
|
0.51824
|
NM_007294.4(BRCA1):c.-20+101C>G
|
rs799905
|
0.51032
|
NM_007294.4(BRCA1):c.213-161A>G
|
rs799912
|
0.49747
|
NM_007294.4(BRCA1):c.4485-137T>A
|
rs2236762
|
0.45393
|
NM_000059.4(BRCA2):c.631+183T>A
|
rs3752451
|
0.32939
|
NM_007294.4(BRCA1):c.4485-63C>G
|
rs273900734
|
0.30900
|
NM_007294.4(BRCA1):c.-19-115T>C
|
rs3765640
|
0.30895
|
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.*1287C>T
|
rs12516
|
0.30331
|
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_007294.4(BRCA1):c.*421G>T
|
rs8176318
|
0.28553
|
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=)
|
rs1801406
|
0.28273
|
NM_000059.4(BRCA2):c.*369A>G
|
rs7334543
|
0.27664
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
NM_000059.4(BRCA2):c.681+56C>T
|
rs2126042
|
0.21010
|
NM_000059.4(BRCA2):c.-26G>A
|
rs1799943
|
0.20795
|
NM_000059.4(BRCA2):c.1910-74T>C
|
rs2320236
|
0.19842
|
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=)
|
rs543304
|
0.18381
|
NM_000059.4(BRCA2):c.-52A>G
|
rs206118
|
0.15771
|
NM_007294.4(BRCA1):c.442-34C>T
|
rs799923
|
0.15730
|
NM_000059.4(BRCA2):c.*105A>C
|
rs15869
|
0.15131
|
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn)
|
rs4986850
|
0.05782
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
NM_000059.4(BRCA2):c.9257-83G>A
|
rs9595456
|
0.04317
|
NM_139076.3(ABRAXAS1):c.1117G>A (p.Asp373Asn)
|
rs13125836
|
0.04289
|
NM_000059.4(BRCA2):c.425+67A>C
|
rs11571610
|
0.03705
|
NM_000059.4(BRCA2):c.426-89T>C
|
rs3783265
|
0.03704
|
NM_000059.4(BRCA2):c.2229T>C (p.His743=)
|
rs1801499
|
0.03698
|
NM_000059.4(BRCA2):c.1910-51G>T
|
rs11571651
|
0.03694
|
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)
|
rs766173
|
0.03693
|
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=)
|
rs1801439
|
0.03688
|
NM_000059.4(BRCA2):c.7435+53C>T
|
rs11147489
|
0.03657
|
NM_000059.4(BRCA2):c.7397= (p.Val2466=)
|
rs169547
|
0.02098
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn)
|
rs4987048
|
0.00655
|
NM_000059.4(BRCA2):c.-175C>T
|
rs55880202
|
0.00642
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
NM_133510.4(RAD51B):c.25G>A (p.Val9Met)
|
rs34583846
|
0.00458
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_133509.5(RAD51B):c.1063G>A (p.Ala355Thr)
|
rs61758785
|
0.00322
|
NM_007294.4(BRCA1):c.114G>A (p.Lys38=)
|
rs1800062
|
0.00233
|
NM_133510.4(RAD51B):c.619G>T (p.Val207Leu)
|
rs28908168
|
0.00228
|
NM_005732.4(RAD50):c.980G>A (p.Arg327His)
|
rs28903091
|
0.00207
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
NM_005732.4(RAD50):c.3036+5G>A
|
rs181016343
|
0.00078
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00064
|
NM_133510.4(RAD51B):c.226G>A (p.Ala76Thr)
|
rs190059291
|
0.00053
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
NM_000059.4(BRCA2):c.9649-19G>A
|
rs11571830
|
0.00047
|
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)
|
rs80356892
|
0.00046
|
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_133510.4(RAD51B):c.1036+5G>A
|
rs148518198
|
0.00041
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
|
rs139461096
|
0.00038
|
NM_000038.6(APC):c.6857C>T (p.Ala2286Val)
|
rs200587641
|
0.00036
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
NM_000038.6(APC):c.2593C>T (p.Pro865Ser)
|
rs192620988
|
0.00028
|
NM_139076.3(ABRAXAS1):c.125A>G (p.Lys42Arg)
|
rs201948472
|
0.00028
|
NM_000057.4(BLM):c.191A>T (p.Asp64Val)
|
rs140382474
|
0.00026
|
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)
|
rs146370443
|
0.00026
|
NM_005732.4(RAD50):c.2288G>A (p.Arg763His)
|
rs141989813
|
0.00026
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
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_002878.4(RAD51D):c.413A>G (p.Asn138Ser)
|
rs201676898
|
0.00025
|
NM_005732.4(RAD50):c.2177G>A (p.Arg726His)
|
rs28903092
|
0.00025
|
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_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)
|
rs370196722
|
0.00016
|
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)
|
rs183489969
|
0.00016
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
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_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)
|
rs201118107
|
0.00014
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
NM_000057.4(BLM):c.1315A>G (p.Met439Val)
|
rs201231857
|
0.00011
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
|
rs138135866
|
0.00011
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)
|
rs63751225
|
0.00010
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr)
|
rs142996063
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu)
|
rs587782333
|
0.00009
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)
|
rs200872702
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_020975.6(RET):c.2657G>A (p.Arg886Gln)
|
rs373594744
|
0.00009
|
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)
|
rs515726072
|
0.00009
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)
|
rs140387675
|
0.00008
|
NM_000075.4(CDK4):c.886C>T (p.His296Tyr)
|
rs2227954
|
0.00008
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg)
|
rs587779804
|
0.00007
|
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)
|
rs145444830
|
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.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)
|
rs63751211
|
0.00007
|
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)
|
rs201141245
|
0.00007
|
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)
|
rs200951235
|
0.00007
|
NM_000051.4(ATM):c.3614G>A (p.Arg1205His)
|
rs769106895
|
0.00006
|
NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser)
|
rs587781616
|
0.00006
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00006
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
NM_000251.3(MSH2):c.499G>C (p.Asp167His)
|
rs63750255
|
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_001048174.2(MUTYH):c.488G>A (p.Arg163Gln)
|
rs369677603
|
0.00006
|
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)
|
rs35606263
|
0.00006
|
NM_005591.4(MRE11):c.1462C>T (p.Arg488Cys)
|
rs375261439
|
0.00006
|
NM_005591.4(MRE11):c.358A>G (p.Ile120Val)
|
rs372131911
|
0.00006
|
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val)
|
rs201120953
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00006
|
NM_020975.6(RET):c.1894G>A (p.Glu632Lys)
|
rs377767407
|
0.00006
|
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)
|
rs587780235
|
0.00006
|
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)
|
rs201047375
|
0.00006
|
NM_139076.3(ABRAXAS1):c.1106dup (p.Ser370fs)
|
rs587780262
|
0.00006
|
NM_000051.4(ATM):c.3016A>G (p.Met1006Val)
|
rs139893395
|
0.00005
|
NM_000249.4(MLH1):c.438A>G (p.Gln146=)
|
rs377279035
|
0.00005
|
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)
|
rs149739570
|
0.00005
|
NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu)
|
rs199706698
|
0.00005
|
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)
|
rs368080169
|
0.00004
|
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)
|
rs35540155
|
0.00004
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)
|
rs730881325
|
0.00004
|
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)
|
rs80358548
|
0.00004
|
NM_000075.4(CDK4):c.460G>C (p.Val154Leu)
|
rs563692823
|
0.00004
|
NM_000179.3(MSH6):c.1068T>C (p.Gly356=)
|
rs749752524
|
0.00004
|
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)
|
rs369456858
|
0.00004
|
NM_000251.3(MSH2):c.183G>T (p.Gln61His)
|
rs751082926
|
0.00004
|
NM_000465.4(BARD1):c.160A>G (p.Thr54Ala)
|
rs200254470
|
0.00004
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001370259.2(MEN1):c.1434C>T (p.Gly478=)
|
rs200280309
|
0.00004
|
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)
|
rs12721593
|
0.00004
|
NM_002485.5(NBN):c.633T>A (p.Asp211Glu)
|
rs377700348
|
0.00004
|
NM_002878.4(RAD51D):c.493C>T (p.Arg165Trp)
|
rs544654228
|
0.00004
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln)
|
rs587782549
|
0.00004
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
NM_005591.4(MRE11):c.1783+7A>G
|
rs774520952
|
0.00004
|
NM_005591.4(MRE11):c.848A>G (p.His283Arg)
|
rs142727857
|
0.00004
|
NM_005732.4(RAD50):c.281T>C (p.Ile94Thr)
|
rs768127412
|
0.00004
|
NM_005732.4(RAD50):c.695C>A (p.Ala232Asp)
|
rs28903089
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_007294.4(BRCA1):c.302-70G>A
|
rs147809611
|
0.00004
|
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala)
|
rs202072866
|
0.00004
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000051.4(ATM):c.2396C>T (p.Ala799Val)
|
rs199954262
|
0.00003
|
NM_000179.3(MSH6):c.1025C>G (p.Ala342Gly)
|
rs753617680
|
0.00003
|
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)
|
rs587780021
|
0.00003
|
NM_000465.4(BARD1):c.1915T>C (p.Cys639Arg)
|
rs587781376
|
0.00003
|
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)
|
rs587780045
|
0.00003
|
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)
|
rs200302954
|
0.00003
|
NM_001114122.3(CHEK1):c.478C>T (p.Arg160Cys)
|
rs369248914
|
0.00003
|
NM_002354.3(EPCAM):c.134A>T (p.Gln45Leu)
|
rs372142268
|
0.00003
|
NM_004360.5(CDH1):c.2350C>T (p.Arg784Cys)
|
rs775922721
|
0.00003
|
NM_005431.2(XRCC2):c.190C>T (p.Arg64Ter)
|
rs151110146
|
0.00003
|
NM_005591.4(MRE11):c.305G>T (p.Gly102Val)
|
rs199736271
|
0.00003
|
NM_005732.4(RAD50):c.785T>G (p.Leu262Arg)
|
rs201728859
|
0.00003
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)
|
rs200960251
|
0.00003
|
NM_000038.6(APC):c.1589T>C (p.Val530Ala)
|
rs202199891
|
0.00002
|
NM_000038.6(APC):c.2780C>G (p.Ala927Gly)
|
rs587781500
|
0.00002
|
NM_000038.6(APC):c.4343C>T (p.Thr1448Ile)
|
rs907886109
|
0.00002
|
NM_000038.6(APC):c.6497G>A (p.Arg2166Gln)
|
rs752091655
|
0.00002
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
rs80358390
|
0.00002
|
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu)
|
rs28897717
|
0.00002
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000059.4(BRCA2):c.5921C>T (p.Thr1974Ile)
|
rs55730620
|
0.00002
|
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys)
|
rs587778188
|
0.00002
|
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)
|
rs63750328
|
0.00002
|
NM_000535.7(PMS2):c.2349C>T (p.Val783=)
|
rs751036491
|
0.00002
|
NM_000535.7(PMS2):c.852A>G (p.Ser284=)
|
rs766177007
|
0.00002
|
NM_000546.6(TP53):c.665C>T (p.Pro222Leu)
|
rs146340390
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_001042492.3(NF1):c.2819C>G (p.Thr940Ser)
|
rs368995630
|
0.00002
|
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile)
|
rs199474755
|
0.00002
|
NM_001048174.2(MUTYH):c.504G>C (p.Glu168Asp)
|
rs587781645
|
0.00002
|
NM_002485.5(NBN):c.37+1G>A
|
rs574673404
|
0.00002
|
NM_002878.4(RAD51D):c.164G>A (p.Arg55Gln)
|
rs151198586
|
0.00002
|
NM_004360.5(CDH1):c.344C>T (p.Thr115Met)
|
rs370973869
|
0.00002
|
NM_005732.4(RAD50):c.1604G>A (p.Arg535His)
|
rs200548021
|
0.00002
|
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp)
|
rs587782268
|
0.00002
|
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)
|
rs575910805
|
0.00002
|
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr)
|
rs80357480
|
0.00002
|
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met)
|
rs80357169
|
0.00002
|
NM_020975.6(RET):c.134C>T (p.Ala45Val)
|
rs763526874
|
0.00002
|
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)
|
rs180177110
|
0.00002
|
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)
|
rs878855122
|
0.00002
|
NM_058216.3(RAD51C):c.778C>T (p.Arg260Trp)
|
rs374196453
|
0.00002
|
NM_000038.6(APC):c.4136A>G (p.Glu1379Gly)
|
rs1561590131
|
0.00001
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg)
|
rs587779819
|
0.00001
|
NM_000051.4(ATM):c.2480A>G (p.Lys827Arg)
|
rs372230498
|
0.00001
|
NM_000051.4(ATM):c.2822C>T (p.Ser941Phe)
|
rs1188614092
|
0.00001
|
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)
|
rs189445371
|
0.00001
|
NM_000051.4(ATM):c.3331C>G (p.Leu1111Val)
|
rs587779832
|
0.00001
|
NM_000051.4(ATM):c.3676G>C (p.Asp1226His)
|
rs370974808
|
0.00001
|
NM_000051.4(ATM):c.4703A>G (p.His1568Arg)
|
rs368830730
|
0.00001
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00001
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
NM_000051.4(ATM):c.680C>T (p.Ser227Leu)
|
rs762998620
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.7843C>G (p.Gln2615Glu)
|
rs773159296
|
0.00001
|
NM_000051.4(ATM):c.787C>T (p.Leu263Phe)
|
rs876659531
|
0.00001
|
NM_000051.4(ATM):c.8988-1G>C
|
rs730881386
|
0.00001
|
NM_000057.4(BLM):c.2867C>T (p.Pro956Leu)
|
rs962069708
|
0.00001
|
NM_000057.4(BLM):c.3014T>C (p.Ile1005Thr)
|
rs772671554
|
0.00001
|
NM_000057.4(BLM):c.3970C>T (p.His1324Tyr)
|
rs748943489
|
0.00001
|
NM_000057.4(BLM):c.888T>C (p.Tyr296=)
|
rs139277089
|
0.00001
|
NM_000057.4(BLM):c.98+6T>G
|
rs886051550
|
0.00001
|
NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val)
|
rs202230438
|
0.00001
|
NM_000059.4(BRCA2):c.425+4T>G
|
rs757612558
|
0.00001
|
NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter)
|
rs80358711
|
0.00001
|
NM_000059.4(BRCA2):c.5081G>C (p.Arg1694Thr)
|
rs753721331
|
0.00001
|
NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met)
|
rs80358889
|
0.00001
|
NM_000059.4(BRCA2):c.793+1G>A
|
rs81002846
|
0.00001
|
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)
|
rs80359082
|
0.00001
|
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)
|
rs45580035
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000059.4(BRCA2):c.9472A>G (p.Thr3158Ala)
|
rs786204284
|
0.00001
|
NM_000059.4(BRCA2):c.9863C>T (p.Thr3288Ile)
|
rs754588394
|
0.00001
|
NM_000179.3(MSH6):c.4002-4T>C
|
rs370428032
|
0.00001
|
NM_000249.4(MLH1):c.306+4A>G
|
rs267607733
|
0.00001
|
NM_000251.3(MSH2):c.1148G>A (p.Arg383Gln)
|
rs376934727
|
0.00001
|
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)
|
rs587781314
|
0.00001
|
NM_000251.3(MSH2):c.1597C>G (p.Leu533Val)
|
rs786202987
|
0.00001
|
NM_000251.3(MSH2):c.1831G>A (p.Val611Met)
|
rs369385048
|
0.00001
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)
|
rs199676483
|
0.00001
|
NM_000455.5(STK11):c.1148G>A (p.Arg383His)
|
rs730881990
|
0.00001
|
NM_000465.4(BARD1):c.1448A>G (p.His483Arg)
|
rs587781874
|
0.00001
|
NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr)
|
rs587780022
|
0.00001
|
NM_000465.4(BARD1):c.2224T>A (p.Leu742Met)
|
rs876659765
|
0.00001
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
NM_000535.7(PMS2):c.2332T>A (p.Phe778Ile)
|
rs876660374
|
0.00001
|
NM_000535.7(PMS2):c.46A>G (p.Lys16Glu)
|
rs777845808
|
0.00001
|
NM_000535.7(PMS2):c.803+4A>G
|
rs756312205
|
0.00001
|
NM_000546.6(TP53):c.376-2dup
|
rs751253294
|
0.00001
|
NM_000546.6(TP53):c.480G>A (p.Met160Ile)
|
rs772354334
|
0.00001
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
NM_000551.4(VHL):c.373C>T (p.His125Tyr)
|
rs375401722
|
0.00001
|
NM_000551.4(VHL):c.387G>T (p.Leu129=)
|
rs778846471
|
0.00001
|
NM_001042492.3(NF1):c.1243C>T (p.His415Tyr)
|
rs1415155749
|
0.00001
|
NM_001042492.3(NF1):c.4446A>G (p.Ile1482Met)
|
rs876658776
|
0.00001
|
NM_001042492.3(NF1):c.584A>G (p.Lys195Arg)
|
rs587778552
|
0.00001
|
NM_001042492.3(NF1):c.6779C>T (p.Ser2260Phe)
|
rs876658775
|
0.00001
|
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
|
rs587783057
|
0.00001
|
NM_001048174.2(MUTYH):c.409G>A (p.Ala137Thr)
|
rs201103359
|
0.00001
|
NM_001048174.2(MUTYH):c.595G>A (p.Ala199Thr)
|
rs369854269
|
0.00001
|
NM_001048174.2(MUTYH):c.713C>G (p.Ala238Gly)
|
rs750344996
|
0.00001
|
NM_001048174.2(MUTYH):c.796C>T (p.Arg266Cys)
|
rs199840380
|
0.00001
|
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)
|
rs374950566
|
0.00001
|
NM_001370259.2(MEN1):c.344G>A (p.Arg115His)
|
rs1114167507
|
0.00001
|
NM_001370259.2(MEN1):c.526G>T (p.Ala176Ser)
|
rs376872829
|
0.00001
|
NM_002354.3(EPCAM):c.338C>T (p.Thr113Ile)
|
rs753947304
|
0.00001
|
NM_002485.5(NBN):c.119C>T (p.Ser40Leu)
|
rs587781530
|
0.00001
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser)
|
rs587780093
|
0.00001
|
NM_002878.4(RAD51D):c.784C>A (p.Pro262Thr)
|
rs1340405420
|
0.00001
|
NM_004329.3(BMPR1A):c.1166G>T (p.Ser389Ile)
|
rs879254049
|
0.00001
|
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn)
|
rs587781522
|
0.00001
|
NM_004360.5(CDH1):c.1325T>C (p.Leu442Ser)
|
rs752074266
|
0.00001
|
NM_004360.5(CDH1):c.233G>A (p.Gly78Asp)
|
rs587781404
|
0.00001
|
NM_004360.5(CDH1):c.546A>C (p.Lys182Asn)
|
rs201141645
|
0.00001
|
NM_004360.5(CDH1):c.901G>A (p.Ala301Thr)
|
rs749056300
|
0.00001
|
NM_005431.2(XRCC2):c.7A>G (p.Ser3Gly)
|
rs762701579
|
0.00001
|
NM_005591.4(MRE11):c.455A>C (p.His152Pro)
|
rs749043357
|
0.00001
|
NM_005591.4(MRE11):c.493A>T (p.Ser165Cys)
|
rs763298588
|
0.00001
|
NM_005591.4(MRE11):c.526A>G (p.Ile176Val)
|
rs587781676
|
0.00001
|
NM_005732.4(RAD50):c.2492A>G (p.Glu831Gly)
|
rs772155267
|
0.00001
|
NM_005732.4(RAD50):c.3554G>A (p.Arg1185Gln)
|
rs747603489
|
0.00001
|
NM_005732.4(RAD50):c.3779G>A (p.Arg1260His)
|
rs367683141
|
0.00001
|
NM_005732.4(RAD50):c.3929A>G (p.Asn1310Ser)
|
rs753468016
|
0.00001
|
NM_005732.4(RAD50):c.578G>A (p.Arg193Gln)
|
rs776046799
|
0.00001
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
0.00001
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His)
|
rs948928965
|
0.00001
|
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)
|
rs72552322
|
0.00001
|
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp)
|
rs587780190
|
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.2765C>G (p.Thr922Arg)
|
rs80357460
|
0.00001
|
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.4986+6T>C
|
rs80358086
|
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.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NM_020975.6(RET):c.1102C>T (p.Arg368Cys)
|
rs754116867
|
0.00001
|
NM_020975.6(RET):c.2080C>T (p.Arg694Trp)
|
rs193922700
|
0.00001
|
NM_020975.6(RET):c.2129A>G (p.Lys710Arg)
|
rs774983492
|
0.00001
|
NM_020975.6(RET):c.2162G>A (p.Arg721Gln)
|
rs1356141763
|
0.00001
|
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile)
|
rs373298267
|
0.00001
|
NM_024675.4(PALB2):c.1448C>T (p.Ser483Leu)
|
rs1057520736
|
0.00001
|
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg)
|
rs773831304
|
0.00001
|
NM_024675.4(PALB2):c.292A>G (p.Ile98Val)
|
rs587782831
|
0.00001
|
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr)
|
rs746872839
|
0.00001
|
NM_024675.4(PALB2):c.3320T>C (p.Leu1107Pro)
|
rs149194681
|
0.00001
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
NM_024675.4(PALB2):c.739A>G (p.Thr247Ala)
|
rs786203040
|
0.00001
|
NM_032043.3(BRIP1):c.10A>G (p.Met4Val)
|
rs45512093
|
0.00001
|
NM_032043.3(BRIP1):c.3262C>T (p.His1088Tyr)
|
rs878855154
|
0.00001
|
NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr)
|
rs587780838
|
0.00001
|
NM_058216.3(RAD51C):c.622A>G (p.Ile208Val)
|
rs771078849
|
0.00001
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
NM_133510.4(RAD51B):c.7A>G (p.Ser3Gly)
|
rs1009774288
|
0.00001
|
NM_133510.4(RAD51B):c.976C>G (p.Pro326Ala)
|
rs548011714
|
0.00001
|
NM_139076.3(ABRAXAS1):c.1108T>A (p.Ser370Thr)
|
rs587780263
|
0.00001
|
NG_007110.2:g.(?_47707835)_(47708005_?)dup
|
|
|
NM_000038.6(APC):c.1279C>A (p.His427Asn)
|
rs587779781
|
|
NM_000038.6(APC):c.1594C>T (p.Gln532Ter)
|
rs1554081901
|
|
NM_000038.6(APC):c.1779G>A (p.Trp593Ter)
|
rs1554083132
|
|
NM_000038.6(APC):c.2101A>G (p.Met701Val)
|
rs1561574872
|
|
NM_000038.6(APC):c.2948T>A (p.Ile983Asn)
|
rs113674464
|
|
NM_000038.6(APC):c.3105G>T (p.Gln1035His)
|
rs878853435
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
NM_000038.6(APC):c.4391_4394del (p.Glu1464fs)
|
rs387906234
|
|
NM_000038.6(APC):c.4813G>A (p.Val1605Met)
|
rs1554086219
|
|
NM_000038.6(APC):c.6046G>T (p.Asp2016Tyr)
|
rs1561604731
|
|
NM_000038.6(APC):c.6368G>A (p.Cys2123Tyr)
|
rs878853463
|
|
NM_000038.6(APC):c.7160A>G (p.Asn2387Ser)
|
rs1554088085
|
|
NM_000038.6(APC):c.7195A>C (p.Lys2399Gln)
|
rs1561613559
|
|
NM_000038.6(APC):c.8050G>C (p.Asp2684His)
|
rs1561620240
|
|
NM_000038.6(APC):c.8260A>G (p.Ser2754Gly)
|
rs1561621841
|
|
NM_000051.3:c.475G>A
|
|
|
NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter)
|
rs376170600
|
|
NM_000051.4(ATM):c.1111A>G (p.Thr371Ala)
|
rs1565378985
|
|
NM_000051.4(ATM):c.1188A>G (p.Ile396Met)
|
rs1565379417
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.2251-4A>G
|
rs786202935
|
|
NM_000051.4(ATM):c.2518G>A (p.Asp840Asn)
|
rs879189597
|
|
NM_000051.4(ATM):c.2829_2838+16delinsA
|
rs1565420196
|
|
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)
|
rs587778069
|
|
NM_000051.4(ATM):c.2945G>A (p.Arg982His)
|
rs749471737
|
|
NM_000051.4(ATM):c.3410G>A (p.Ser1137Asn)
|
rs876659633
|
|
NM_000051.4(ATM):c.3577-1G>C
|
rs1057517226
|
|
NM_000051.4(ATM):c.3605G>C (p.Gly1202Ala)
|
rs1555092285
|
|
NM_000051.4(ATM):c.3728A>C (p.Asn1243Thr)
|
rs730881363
|
|
NM_000051.4(ATM):c.4076C>A (p.Ala1359Asp)
|
rs1565452823
|
|
NM_000051.4(ATM):c.4111G>A (p.Asp1371Asn)
|
rs1565454823
|
|
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser)
|
rs777812804
|
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
|
NM_000051.4(ATM):c.5630T>G (p.Phe1877Cys)
|
rs202028401
|
|
NM_000051.4(ATM):c.5851C>T (p.His1951Tyr)
|
rs1060501673
|
|
NM_000051.4(ATM):c.591A>G (p.Gly197=)
|
rs587780630
|
|
NM_000051.4(ATM):c.5956A>G (p.Ile1986Val)
|
rs876660935
|
|
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)
|
rs876660134
|
|
NM_000051.4(ATM):c.6283_6288del (p.Leu2095_Glu2096del)
|
rs1565503206
|
|
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)
|
rs786203311
|
|
NM_000051.4(ATM):c.7411A>G (p.Ile2471Val)
|
rs1565529832
|
|
NM_000051.4(ATM):c.8341G>T (p.Val2781Phe)
|
rs1293051732
|
|
NM_000051.4(ATM):c.8389A>G (p.Ser2797Gly)
|
rs761629908
|
|
NM_000051.4(ATM):c.8549T>C (p.Leu2850Ser)
|
rs876658716
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000051.4(ATM):c.9077T>G (p.Leu3026Arg)
|
rs1565609286
|
|
NM_000051.4(ATM):c.976A>G (p.Ile326Val)
|
rs1555068422
|
|
NM_000051.4(ATM):c.978A>G (p.Ile326Met)
|
rs1555068424
|
|
NM_000057.4(BLM):c.1556A>G (p.Tyr519Cys)
|
rs1567041220
|
|
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro)
|
rs771776126
|
|
NM_000057.4(BLM):c.4214T>C (p.Ile1405Thr)
|
rs763323767
|
|
NM_000057.4(BLM):c.887A>T (p.Tyr296Phe)
|
rs775005766
|
|
NM_000057.4(BLM):c.955C>T (p.Leu319Phe)
|
rs1567036793
|
|
NM_000059.3(BRCA2):c.(6841+1_6842-1)_(7007+1_7008-1)del
|
|
|
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.7508_7521delinsG (p.Val2503fs)
|
rs879255331
|
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
rs80358391
|
|
NM_000059.4(BRCA2):c.1057del (p.Ser353fs)
|
rs879255322
|
|
NM_000059.4(BRCA2):c.1059del (p.Phe354fs)
|
rs1555281715
|
|
NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter)
|
rs397507571
|
|
NM_000059.4(BRCA2):c.1117C>T (p.Gln373Ter)
|
rs397507572
|
|
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)
|
rs760815829
|
|
NM_000059.4(BRCA2):c.1306_1307del (p.Lys436fs)
|
rs80359278
|
|
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)
|
rs80359277
|
|
NM_000059.4(BRCA2):c.1327G>T (p.Glu443Ter)
|
rs397507579
|
|
NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs)
|
rs80359283
|
|
NM_000059.4(BRCA2):c.1405_1406del (p.Arg468_Asp469insTer)
|
rs397507586
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1588A>T (p.Lys530Ter)
|
rs879255325
|
|
NM_000059.4(BRCA2):c.1733del (p.Gly578fs)
|
rs879255326
|
|
NM_000059.4(BRCA2):c.1763_1766del (p.Asn588fs)
|
rs80359303
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1821dup (p.Asp608fs)
|
rs879255327
|
|
NM_000059.4(BRCA2):c.2095_2096del (p.Gln699fs)
|
rs886040403
|
|
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)
|
rs587781471
|
|
NM_000059.4(BRCA2):c.2435del (p.Asn812fs)
|
rs80359329
|
|
NM_000059.4(BRCA2):c.2490_2491insT (p.Val831fs)
|
rs886040430
|
|
NM_000059.4(BRCA2):c.2644del (p.Leu882fs)
|
rs1555282764
|
|
NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs)
|
rs786204752
|
|
NM_000059.4(BRCA2):c.3189_3192del (p.Ser1064fs)
|
rs80359374
|
|
NM_000059.4(BRCA2):c.3437A>G (p.Glu1146Gly)
|
rs80358588
|
|
NM_000059.4(BRCA2):c.3462del (p.Thr1155fs)
|
rs1555283256
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
NM_000059.4(BRCA2):c.3547G>C (p.Glu1183Gln)
|
rs1566228768
|
|
NM_000059.4(BRCA2):c.3554_3563del (p.Thr1185fs)
|
rs397507675
|
|
NM_000059.4(BRCA2):c.3608G>A (p.Ser1203Asn)
|
rs745817393
|
|
NM_000059.4(BRCA2):c.378dup (p.Ala127fs)
|
rs879255321
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3861TAA[1] (p.Asn1288del)
|
rs276174837
|
|
NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs)
|
rs80359412
|
|
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)
|
rs397515636
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.4412_4414del (p.Arg1471del)
|
rs886039317
|
|
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)
|
rs80359460
|
|
NM_000059.4(BRCA2):c.4769del (p.Lys1590fs)
|
rs879255328
|
|
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)
|
rs80359473
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer)
|
rs80359484
|
|
NM_000059.4(BRCA2):c.5162del (p.Asn1721fs)
|
rs1555284090
|
|
NM_000059.4(BRCA2):c.51_52del (p.Arg18fs)
|
rs80359483
|
|
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)
|
rs80359493
|
|
NM_000059.4(BRCA2):c.5379_5380insTT (p.Val1794fs)
|
rs879255329
|
|
NM_000059.4(BRCA2):c.537dup (p.Ile180fs)
|
rs1566219199
|
|
NM_000059.4(BRCA2):c.5557dup (p.Cys1853fs)
|
rs587782011
|
|
NM_000059.4(BRCA2):c.5925del (p.Cys1975fs)
|
rs1555284465
|
|
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)
|
rs80358840
|
|
NM_000059.4(BRCA2):c.6160G>A (p.Ala2054Thr)
|
rs80358855
|
|
NM_000059.4(BRCA2):c.6211del (p.Ser2071fs)
|
rs431825338
|
|
NM_000059.4(BRCA2):c.6296G>C (p.Arg2099Thr)
|
rs80358868
|
|
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.6513G>C (p.Val2171=)
|
rs206076
|
|
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)
|
rs80359605
|
|
NM_000059.4(BRCA2):c.6607G>T (p.Val2203Phe)
|
rs587782136
|
|
NM_000059.4(BRCA2):c.682-1G>T
|
rs81002831
|
|
NM_000059.4(BRCA2):c.6839_6840insA (p.Glu2282fs)
|
rs1555284866
|
|
NM_000059.4(BRCA2):c.6938-120T>C
|
rs206080
|
|
NM_000059.4(BRCA2):c.6941del (p.Thr2314fs)
|
rs80359628
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
NM_000059.4(BRCA2):c.6983A>G (p.Glu2328Gly)
|
rs201500887
|
|
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7209_7212delinsGG (p.Lys2404fs)
|
rs876659770
|
|
NM_000059.4(BRCA2):c.7234_7235insG (p.Thr2412fs)
|
rs397507906
|
|
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=)
|
rs1799955
|
|
NM_000059.4(BRCA2):c.7617+1G>T
|
rs397507922
|
|
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)
|
rs80359671
|
|
NM_000059.4(BRCA2):c.7805+1G>A
|
rs81002809
|
|
NM_000059.4(BRCA2):c.7806-2A>T
|
rs81002836
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer)
|
rs80359686
|
|
NM_000059.4(BRCA2):c.7914del (p.Pro2639fs)
|
rs879255332
|
|
NM_000059.4(BRCA2):c.7919_7928del (p.Lys2640fs)
|
rs879255333
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met)
|
rs431825362
|
|
NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter)
|
rs276174900
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8052_8053dup (p.Thr2685fs)
|
rs397507958
|
|
NM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter)
|
rs80359050
|
|
NM_000059.4(BRCA2):c.8200_8209del (p.Asp2733_Pro2734insTer)
|
rs398122599
|
|
NM_000059.4(BRCA2):c.8548del (p.Glu2850fs)
|
rs1555287766
|
|
NM_000059.4(BRCA2):c.8655dup (p.Pro2886fs)
|
rs1135401927
|
|
NM_000059.4(BRCA2):c.8680C>T (p.Gln2894Ter)
|
rs397508002
|
|
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter)
|
rs397507411
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8930del (p.Tyr2977fs)
|
rs869320799
|
|
NM_000059.4(BRCA2):c.8944A>C (p.Lys2982Gln)
|
rs80359145
|
|
NM_000059.4(BRCA2):c.8981C>T (p.Ser2994Leu)
|
rs1566253076
|
|
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter)
|
rs80359205
|
|
NM_000059.4(BRCA2):c.9376C>T (p.Gln3126Ter)
|
rs80359210
|
|
NM_000059.4(BRCA2):c.9501+1G>A
|
rs397508058
|
|
NM_000059.4(BRCA2):c.9682del (p.Ser3228fs)
|
rs398122618
|
|
NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter)
|
rs80359247
|
|
NM_000059.4(BRCA2):c.994del (p.Ile332fs)
|
rs80359777
|
|
NM_000075.4(CDK4):c.763C>A (p.Arg255Ser)
|
rs587778188
|
|
NM_000077.5(CDKN2A):c.106G>T (p.Ala36Ser)
|
rs777948908
|
|
NM_000077.5(CDKN2A):c.313G>T (p.Asp105Tyr)
|
rs774829510
|
|
NM_000179.2(MSH6):c.878_880delinsT (p.Pro293Leufs)
|
rs1558659626
|
|
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del)
|
rs1064793600
|
|
NM_000179.3(MSH6):c.2137del (p.Asp713fs)
|
rs864622257
|
|
NM_000179.3(MSH6):c.2622C>T (p.Ile874=)
|
rs1200093419
|
|
NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter)
|
rs1558666177
|
|
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)
|
rs587779246
|
|
NM_000179.3(MSH6):c.2806G>C (p.Asp936His)
|
rs876659904
|
|
NM_000179.3(MSH6):c.2975A>G (p.Glu992Gly)
|
rs876660688
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3349T>C (p.Cys1117Arg)
|
rs786202829
|
|
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs)
|
rs398123232
|
|
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)
|
rs202066386
|
|
NM_000179.3(MSH6):c.3832C>G (p.Pro1278Ala)
|
rs587782109
|
|
NM_000179.3(MSH6):c.893G>A (p.Arg298Gln)
|
rs765237563
|
|
NM_000179.3(MSH6):c.95G>A (p.Gly32Asp)
|
rs771426932
|
|
NM_000244.3:c.563C>T
|
|
|
NM_000249.3(MLH1):c.(453+1_454-1)_(545+1_546-1)del
|
|
|
NM_000249.4(MLH1):c.1409+1G>A
|
rs267607825
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.479C>T (p.Ala160Val)
|
rs63749924
|
|
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)
|
rs63751711
|
|
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)
|
rs63749994
|
|
NM_000249.4(MLH1):c.94A>T (p.Ile32Phe)
|
rs2020872
|
|
NM_000249.4(MLH1):c.96C>G (p.Ile32Met)
|
rs1553637356
|
|
NM_000251.2(MSH2):c.(1661+1_1662-1)_(*1_?)del
|
|
|
NM_000251.2(MSH2):c.(?-1)_(1276+1_1277-1)del
|
|
|
NM_000251.3(MSH2):c.1144C>A (p.Arg382Ser)
|
rs752373431
|
|
NM_000251.3(MSH2):c.1405C>G (p.Leu469Val)
|
rs780702096
|
|
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)
|
rs587779113
|
|
NM_000251.3(MSH2):c.247A>G (p.Met83Val)
|
rs766196837
|
|
NM_000251.3(MSH2):c.965G>T (p.Gly322Val)
|
rs4987188
|
|
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)
|
rs121909229
|
|
NM_000314.8(PTEN):c.492+3A>G
|
rs1564830529
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
NM_000455.5(STK11):c.133C>G (p.Leu45Val)
|
rs1568690121
|
|
NM_000455.5(STK11):c.580G>A (p.Asp194Asn)
|
rs121913315
|
|
NM_000465.4(BARD1):c.1069A>G (p.Ile357Val)
|
rs1559424056
|
|
NM_000465.4(BARD1):c.1333G>A (p.Glu445Lys)
|
rs1553619735
|
|
NM_000465.4(BARD1):c.26_40del (p.4_8NRQPR[1])
|
rs587781979
|
|
NM_000465.4(BARD1):c.370A>G (p.Lys124Glu)
|
rs1559426408
|
|
NM_000465.4(BARD1):c.632T>A (p.Leu211Ter)
|
rs762171436
|
|
NM_000535.6(PMS2):c.(?-1)_(*1_?)del
|
|
|
NM_000535.7(PMS2):c.1171G>T (p.Asp391Tyr)
|
rs1064795020
|
|
NM_000535.7(PMS2):c.1239dup (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter)
|
rs863224496
|
|
NM_000535.7(PMS2):c.1414A>T (p.Lys472Ter)
|
rs1562633172
|
|
NM_000535.7(PMS2):c.1533G>T (p.Thr511=)
|
rs542520309
|
|
NM_000535.7(PMS2):c.2043G>T (p.Gln681His)
|
rs876658953
|
|
NM_000535.7(PMS2):c.2104G>A (p.Ala702Thr)
|
rs1554295821
|
|
NM_000535.7(PMS2):c.428T>C (p.Ile143Thr)
|
rs1562690040
|
|
NM_000535.7(PMS2):c.542A>T (p.Tyr181Phe)
|
rs863224681
|
|
NM_000535.7(PMS2):c.934A>T (p.Met312Leu)
|
rs786202567
|
|
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro)
|
rs375338359
|
|
NM_000546.6(TP53):c.469G>T (p.Val157Phe)
|
rs121912654
|
|
NM_000546.6(TP53):c.673-1G>A
|
rs878854073
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000551.4(VHL):c.218A>G (p.Gln73Arg)
|
rs1295818809
|
|
NM_000551.4(VHL):c.280G>T (p.Glu94Ter)
|
rs5030829
|
|
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile)
|
rs587782772
|
|
NM_001042492.3(NF1):c.2455del (p.His819fs)
|
rs1567848761
|
|
NM_001042492.3(NF1):c.7065T>G (p.Ser2355Arg)
|
rs1567620376
|
|
NM_001042492.3(NF1):c.8514C>G (p.Ile2838Met)
|
rs1567634589
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001370259.2(MEN1):c.1177C>G (p.Gln393Glu)
|
rs1060499984
|
|
NM_001370259.2(MEN1):c.1546C>T (p.Arg516Trp)
|
rs763160290
|
|
NM_001370259.2(MEN1):c.329G>C (p.Gly110Ala)
|
rs1389398299
|
|
NM_002354.2(EPCAM):c.(903+1_904-1)_(*1_?)del
|
|
|
NM_002354.3(EPCAM):c.922A>T (p.Met308Leu)
|
rs1558441924
|
|
NM_002485.5(NBN):c.1081A>G (p.Thr361Ala)
|
rs1563538728
|
|
NM_002485.5(NBN):c.634C>T (p.Leu212=)
|
rs1563561889
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002878.4(RAD51D):c.270T>A (p.Asp90Glu)
|
rs1567728766
|
|
NM_002878.4(RAD51D):c.412A>C (p.Asn138His)
|
rs141690729
|
|
NM_002878.4(RAD51D):c.493C>G (p.Arg165Gly)
|
rs544654228
|
|
NM_002878.4(RAD51D):c.620C>G (p.Ser207Trp)
|
rs370228071
|
|
NM_002878.4(RAD51D):c.931A>G (p.Ile311Val)
|
rs755265519
|
|
NM_002878.4(RAD51D):c.933T>G (p.Ile311Met)
|
rs886052817
|
|
NM_004329.3(BMPR1A):c.864A>G (p.Ile288Met)
|
rs1564723496
|
|
NM_004360.4:c.425A>G
|
|
|
NM_004360.5(CDH1):c.1927A>G (p.Asn643Asp)
|
rs587781540
|
|
NM_005431.2(XRCC2):c.286C>A (p.Leu96Ile)
|
rs778698188
|
|
NM_005591.4(MRE11):c.1807A>G (p.Thr603Ala)
|
rs751657849
|
|
NM_005591.4(MRE11):c.2076T>A (p.Asp692Glu)
|
rs778093337
|
|
NM_005591.4(MRE11):c.76A>G (p.Met26Val)
|
rs765822583
|
|
NM_005732.4(RAD50):c.1245+1G>A
|
rs1561639636
|
|
NM_005732.4(RAD50):c.1429C>A (p.Leu477Met)
|
rs1211437074
|
|
NM_005732.4(RAD50):c.1680T>G (p.Ser560Arg)
|
rs786203901
|
|
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter)
|
rs149201802
|
|
NM_005732.4(RAD50):c.2165dup (p.Glu723fs)
|
rs397507178
|
|
NM_005732.4(RAD50):c.2260_2266del (p.Leu754fs)
|
rs864622393
|
|
NM_005732.4(RAD50):c.2604T>G (p.Asn868Lys)
|
rs786202498
|
|
NM_005732.4(RAD50):c.3103G>T (p.Glu1035Ter)
|
rs1561650088
|
|
NM_005732.4(RAD50):c.326_329del (p.Thr109fs)
|
rs587780155
|
|
NM_005732.4(RAD50):c.34G>C (p.Val12Leu)
|
rs755022536
|
|
NM_005732.4(RAD50):c.3779_3791dup (p.Leu1264_Leu1265insTer)
|
rs1561661777
|
|
NM_005732.4(RAD50):c.587G>A (p.Arg196His)
|
rs764784659
|
|
NM_007194.4(CHEK2):c.(908+1_909-1)_(1095+1_1096-1)del
|
|
|
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe)
|
rs587782441
|
|
NM_007194.4(CHEK2):c.1164del (p.Thr389fs)
|
rs758677815
|
|
NM_007194.4(CHEK2):c.1313A>T (p.Asp438Val)
|
rs1569112074
|
|
NM_007194.4(CHEK2):c.1415A>G (p.Lys472Arg)
|
rs1064793511
|
|
NM_007194.4(CHEK2):c.1427C>A (p.Thr476Lys)
|
rs142763740
|
|
NM_007194.4(CHEK2):c.1461+2T>C
|
rs779844113
|
|
NM_007194.4(CHEK2):c.1521T>C (p.Ala507=)
|
rs1057522770
|
|
NM_007194.4(CHEK2):c.1619C>T (p.Ala540Val)
|
rs1569101970
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
NM_007194.4(CHEK2):c.434G>C (p.Arg145Pro)
|
rs587781667
|
|
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly)
|
rs876660482
|
|
NM_007194.4(CHEK2):c.688G>C (p.Ala230Pro)
|
rs748636216
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
NM_007194.4(CHEK2):c.902T>G (p.Leu301Trp)
|
rs886039739
|
|
NM_007194.4(CHEK2):c.902del (p.Leu301fs)
|
rs748005072
|
|
NM_007194.4(CHEK2):c.911T>A (p.Met304Lys)
|
rs587782033
|
|
NM_007294.3(BRCA1):c.(441+1_442-1)_(547+1_548-1)del
|
|
|
NM_007294.3(BRCA1):c.(5074+1-5075-1)_(5193+1_5194-1)del
|
|
|
NM_007294.3(BRCA1):c.(5467+1_5468-1)_(*1_?)del
|
|
|
NM_007294.3(BRCA1):c.(80+1_81-1)_(134+1_135-1)del
|
|
|
NM_007294.3(BRCA1):c.(?_-1)_(80+1_81-1)del
|
|
|
NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter)
|
rs80356935
|
|
NM_007294.4(BRCA1):c.1140dup (p.Lys381fs)
|
rs876659327
|
|
NM_007294.4(BRCA1):c.1142_1143del (p.Lys381fs)
|
rs879255313
|
|
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)
|
rs80359874
|
|
NM_007294.4(BRCA1):c.1224del (p.Lys408_Val409insTer)
|
rs879255320
|
|
NM_007294.4(BRCA1):c.1292_1295del (p.Leu431fs)
|
rs1555591984
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.135-2A>G
|
rs80358065
|
|
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)
|
rs80357888
|
|
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter)
|
rs80356893
|
|
NM_007294.4(BRCA1):c.1622_1626del (p.Gln541fs)
|
rs879255314
|
|
NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter)
|
rs730881473
|
|
NM_007294.4(BRCA1):c.1789G>T (p.Glu597Ter)
|
rs55650082
|
|
NM_007294.4(BRCA1):c.1853G>A (p.Arg618Lys)
|
rs876659527
|
|
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)
|
rs80357526
|
|
NM_007294.4(BRCA1):c.195del (p.Asn66fs)
|
rs80357869
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.212+1G>T
|
rs80358042
|
|
NM_007294.4(BRCA1):c.2158G>T (p.Glu720Ter)
|
rs80356875
|
|
NM_007294.4(BRCA1):c.2196del (p.Glu733fs)
|
rs397508948
|
|
NM_007294.4(BRCA1):c.2241dup (p.Lys748fs)
|
rs80357650
|
|
NM_007294.4(BRCA1):c.224_227del (p.Glu75fs)
|
rs80357697
|
|
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)
|
rs80357664
|
|
NM_007294.4(BRCA1):c.2504dup (p.His835fs)
|
rs1555589513
|
|
NM_007294.4(BRCA1):c.2511del (p.Asn838fs)
|
rs1555589501
|
|
NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter)
|
rs886038001
|
|
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)
|
rs799917
|
|
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)
|
rs80357971
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.274G>C (p.Ala92Pro)
|
rs863224755
|
|
NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter)
|
rs80357377
|
|
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)
|
rs80357819
|
|
NM_007294.4(BRCA1):c.2933dup (p.Tyr978Ter)
|
rs878853292
|
|
NM_007294.4(BRCA1):c.2934del (p.Arg979fs)
|
rs80357741
|
|
NM_007294.4(BRCA1):c.2983A>T (p.Lys995Ter)
|
rs879255315
|
|
NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer)
|
rs80357617
|
|
NM_007294.4(BRCA1):c.3083G>T (p.Arg1028Leu)
|
rs80357459
|
|
NM_007294.4(BRCA1):c.3091A>G (p.Ile1031Val)
|
rs786203979
|
|
NM_007294.4(BRCA1):c.3132del (p.Asn1045fs)
|
rs879255316
|
|
NM_007294.4(BRCA1):c.3157dup (p.Glu1053fs)
|
rs397509042
|
|
NM_007294.4(BRCA1):c.3288_3289del (p.Leu1098fs)
|
rs80357686
|
|
NM_007294.4(BRCA1):c.329dup (p.Glu111fs)
|
rs80357604
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007294.4(BRCA1):c.3375_3376del (p.Pro1126fs)
|
rs80357828
|
|
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs)
|
rs397509067
|
|
NM_007294.4(BRCA1):c.3535A>T (p.Lys1179Ter)
|
rs587782188
|
|
NM_007294.4(BRCA1):c.3553G>T (p.Glu1185Ter)
|
rs397509081
|
|
NM_007294.4(BRCA1):c.3624dup (p.Leu1209fs)
|
rs80357512
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.397del (p.Arg133fs)
|
rs886037973
|
|
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)
|
rs80357711
|
|
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)
|
rs80357727
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.4094T>G (p.Leu1365Ter)
|
rs398122681
|
|
NM_007294.4(BRCA1):c.4097-141A>C
|
rs799916
|
|
NM_007294.4(BRCA1):c.4113del (p.Cys1372fs)
|
rs80357861
|
|
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)
|
rs80357572
|
|
NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter)
|
rs80357305
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4358-3A>G
|
rs1567779966
|
|
NM_007294.4(BRCA1):c.4358C>T (p.Ala1453Val)
|
rs1171055085
|
|
NM_007294.4(BRCA1):c.4372_4373del (p.Gln1458fs)
|
rs879255317
|
|
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs)
|
rs273900730
|
|
NM_007294.4(BRCA1):c.441+18CTT[6]
|
rs147856441
|
|
NM_007294.4(BRCA1):c.4484+1G>A
|
rs80358063
|
|
NM_007294.4(BRCA1):c.4484+1del
|
rs397509181
|
|
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4485-1G>T
|
rs80358189
|
|
NM_007294.4(BRCA1):c.4487C>A (p.Ser1496Ter)
|
rs80356953
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
NM_007294.4(BRCA1):c.4526A>G (p.Tyr1509Cys)
|
rs1555582023
|
|
NM_007294.4(BRCA1):c.4698_4704dup (p.Ser1569fs)
|
rs879255318
|
|
NM_007294.4(BRCA1):c.4774A>C (p.Asn1592His)
|
rs1567775261
|
|
NM_007294.4(BRCA1):c.4818del (p.Val1607fs)
|
rs1555580883
|
|
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)
|
rs1799966
|
|
NM_007294.4(BRCA1):c.4945del (p.Arg1649fs)
|
rs80357655
|
|
NM_007294.4(BRCA1):c.4986+3G>C
|
rs80358023
|
|
NM_007294.4(BRCA1):c.4986+4A>T
|
rs80358087
|
|
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer)
|
rs80357896
|
|
NM_007294.4(BRCA1):c.5057A>C (p.His1686Pro)
|
rs730882166
|
|
NM_007294.4(BRCA1):c.5075-1G>A
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs)
|
rs80357720
|
|
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs)
|
rs80357867
|
|
NM_007294.4(BRCA1):c.5194-10_5236dup
|
rs1555576921
|
|
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)
|
rs80356937
|
|
NM_007294.4(BRCA1):c.5260G>T (p.Glu1754Ter)
|
rs80357432
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5318C>T (p.Thr1773Ile)
|
rs80357428
|
|
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)
|
rs397509283
|
|
NM_007294.4(BRCA1):c.548-58del
|
rs8176144
|
|
NM_007294.4(BRCA1):c.5492del (p.Pro1831fs)
|
rs80357582
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
NM_007294.4(BRCA1):c.65T>A (p.Leu22Ter)
|
rs80357438
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007294.4(BRCA1):c.679G>T (p.Glu227Ter)
|
rs879255319
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.737del (p.Asp245_Leu246insTer)
|
rs397509312
|
|
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
|
rs80357919
|
|
NM_007294.4(BRCA1):c.849dup (p.Gln284fs)
|
rs1555592986
|
|
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)
|
rs80357292
|
|
NM_020975.6(RET):c.1487C>T (p.Ala496Val)
|
rs1356271817
|
|
NM_020975.6(RET):c.182A>C (p.Glu61Ala)
|
rs1564489398
|
|
NM_020975.6(RET):c.3079C>G (p.Leu1027Val)
|
rs1564501868
|
|
NM_020975.6(RET):c.765G>T (p.Met255Ile)
|
rs1564491302
|
|
NM_020975.6(RET):c.7A>G (p.Lys3Glu)
|
rs1564480827
|
|
NM_024675.4(PALB2):c.1152A>G (p.Glu384=)
|
rs1567221490
|
|
NM_024675.4(PALB2):c.1537A>C (p.Thr513Pro)
|
rs1060502741
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.2461A>T (p.Asn821Tyr)
|
rs958566673
|
|
NM_024675.4(PALB2):c.2747_2748+4del
|
rs786203892
|
|
NM_024675.4(PALB2):c.2813A>G (p.Asn938Ser)
|
rs1567214357
|
|
NM_024675.4(PALB2):c.3122A>C (p.Lys1041Thr)
|
rs781663559
|
|
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter)
|
rs864622138
|
|
NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg)
|
rs515726112
|
|
NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter)
|
rs1567206756
|
|
NM_024675.4(PALB2):c.48+1G>A
|
rs515726118
|
|
NM_024675.4(PALB2):c.49-1G>A
|
rs1440838364
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His)
|
rs587778582
|
|
NM_024675.4(PALB2):c.868G>T (p.Glu290Ter)
|
rs1567222143
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
NM_032043.3(BRIP1):c.1987A>G (p.Thr663Ala)
|
rs1567808933
|
|
NM_032043.3(BRIP1):c.2325T>G (p.Asn775Lys)
|
rs375146450
|
|
NM_032043.3(BRIP1):c.2575+1G>A
|
rs1567737536
|
|
NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser)
|
rs886053215
|
|
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)
|
rs774684620
|
|
NM_032043.3(BRIP1):c.298del (p.Asp99_Met100insTer)
|
rs1567874779
|
|
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr)
|
rs886053214
|
|
NM_032043.3(BRIP1):c.332C>T (p.Pro111Leu)
|
rs201790351
|
|
NM_032043.3(BRIP1):c.747del (p.Thr250fs)
|
rs1567838174
|
|
NM_058216.3(RAD51C):c.705+3A>G
|
rs878855179
|
|
NM_058216.3(RAD51C):c.905-2A>G
|
rs779582317
|
|
NM_058216.3(RAD51C):c.912T>G (p.Ser304Arg)
|
rs876659009
|
|
NM_133510.4(RAD51B):c.84G>A (p.Gln28=)
|
rs764896402
|
|
NM_133510.4(RAD51B):c.983C>T (p.Ala328Val)
|
rs1566901288
|
|