ClinVar Miner

List of variants reported by GeneKor MSA

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 778
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HGVS dbSNP gnomAD frequency
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

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