ClinVar Miner

List of variants studied for colorectal cancer by Illumina Laboratory Services, Illumina

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 497
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HGVS dbSNP gnomAD frequency
NM_001040108.2(MLH3):c.2476A>G (p.Asn826Asp) rs175081 0.98791
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319 0.82058
NM_000251.3(MSH2):c.211+9C>G rs2303426 0.55454
NM_001040108.2(MLH3):c.4335A>G (p.Gln1445=) rs13712 0.52176
NM_014239.4(EIF2B2):c.*180G>C rs4556 0.45760
NM_001040108.2(MLH3):c.*3148A>G rs108621 0.42508
NM_001040108.2(MLH3):c.2531C>T (p.Pro844Leu) rs175080 0.42416
NM_001040108.2(MLH3):c.*2417G>A rs175049 0.40460
NM_000251.3(MSH2):c.1661+12G>A rs3732183 0.40290
NM_001040108.2(MLH3):c.*1877T>C rs108622 0.39486
NM_001040108.2(MLH3):c.*958G>T rs398896 0.39375
NM_001040108.2(MLH3):c.*957C>A rs424120 0.39343
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_000179.3(MSH6):c.3438+14A>T rs2020911 0.32279
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_000179.3(MSH6):c.540T>C (p.Asp180=) rs1800935 0.23857
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_000249.4(MLH1):c.-93G>A rs1800734 0.22121
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_000179.3(MSH6):c.276A>G (p.Pro92=) rs1800932 0.14697
NM_000179.3(MSH6):c.186C>A (p.Arg62=) rs1042820 0.12806
NM_000535.7(PMS2):c.2007-4G>A rs1805326 0.12350
NM_000535.7(PMS2):c.2007-7C>T rs55954143 0.12135
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000 0.11447
NC_000002.12:g.189784079G>T rs5742926 0.11427
NM_000251.2(MSH2):c.-118T>C rs2303425 0.10354
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_000179.2(MSH6):c.-159C>T rs41540312 0.07535
NM_000179.3(MSH6):c.642C>T (p.Tyr214=) rs1800937 0.07457
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_000249.4(MLH1):c.1558+14G>A rs41562513 0.05554
NM_000535.7(PMS2):c.2006+6G>A rs111905775 0.04390
NM_000535.7(PMS2):c.288C>T (p.Ala96=) rs12532895 0.03944
NM_001040108.2(MLH3):c.*2965C>T rs10134636 0.03135
NM_001040108.2(MLH3):c.2159A>G (p.Tyr720Cys) rs28756988 0.02978
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_001040108.2(MLH3):c.2390G>A (p.Arg797His) rs28756991 0.02060
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe) rs28756990 0.02049
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_001040108.2(MLH3):c.666G>A (p.Lys222=) rs28756980 0.01977
NM_001040108.1(MLH3):c.-204G>A rs116839793 0.01976
NM_000251.3(MSH2):c.573C>T (p.Leu191=) rs1800151 0.01972
NM_014239.4(EIF2B2):c.*3G>C rs112087431 0.01958
NM_001040108.2(MLH3):c.444G>C (p.Val148=) rs11556091 0.01944
NM_001040108.2(MLH3):c.*1896A>G rs28757059 0.01892
NM_001040108.2(MLH3):c.4242+13C>G rs77157930 0.01890
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_001040108.2(MLH3):c.2533A>G (p.Ser845Gly) rs28756992 0.01483
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln) rs28756981 0.01348
NM_000249.4(MLH1):c.474C>T (p.Asn158=) rs4647256 0.01161
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_014239.4(EIF2B2):c.*56C>T rs116393177 0.01153
NM_001040108.2(MLH3):c.1258G>A (p.Val420Ile) rs28756982 0.01142
NM_000251.3(MSH2):c.2766T>C (p.Phe922=) rs55859129 0.01118
NM_001040108.2(MLH3):c.-133C>G rs145920461 0.01085
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869 0.01065
NM_001040108.2(MLH3):c.2896T>C (p.Ser966Pro) rs17782839 0.01052
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_000249.4(MLH1):c.588+11G>C rs4647258 0.00993
NM_001040108.2(MLH3):c.2825C>T (p.Thr942Ile) rs17102999 0.00989
NM_001040108.2(MLH3):c.*3140C>T rs77514025 0.00950
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_001040108.2(MLH3):c.8A>G (p.Lys3Arg) rs114829239 0.00905
NM_000535.7(PMS2):c.*107A>G rs148520351 0.00901
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=) rs2020910 0.00869
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_001040108.2(MLH3):c.*2407T>C rs74064149 0.00791
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln) rs28756986 0.00772
NM_000179.3(MSH6):c.*85T>A rs2020906 0.00645
NM_000249.4(MLH1):c.589-15C>T rs55658850 0.00582
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_001040108.2(MLH3):c.408T>C (p.Asp136=) rs61755655 0.00552
NM_001040108.2(MLH3):c.3217G>A (p.Asp1073Asn) rs28756993 0.00551
NM_001040108.2(MLH3):c.*1376C>T rs117160510 0.00527
NM_000251.3(MSH2):c.*141T>G rs17225053 0.00526
NM_001040108.2(MLH3):c.3987+15C>T rs117251698 0.00496
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_001040108.2(MLH3):c.*2590T>C rs138458771 0.00486
NM_001040108.2(MLH3):c.*1237A>G rs114347490 0.00484
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_001040108.2(MLH3):c.*1767G>A rs142559310 0.00427
NM_001040108.2(MLH3):c.*2174C>T rs28757060 0.00420
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_000251.3(MSH2):c.1662-9G>A rs17218356 0.00398
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_001040108.2(MLH3):c.3315C>A (p.Asp1105Glu) rs28757008 0.00323
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_001040108.2(MLH3):c.3987+7C>A rs28757028 0.00219
NM_000179.2(MSH6):c.-118G>A rs556432240 0.00214
NM_000251.3(MSH2):c.*226A>G rs17225060 0.00201
NM_001040108.2(MLH3):c.*3206C>T rs188135545 0.00201
NM_001040108.2(MLH3):c.3644-13C>T rs189760727 0.00199
NM_001040108.2(MLH3):c.2425A>G (p.Met809Val) rs61752722 0.00197
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_001040108.2(MLH3):c.*1448G>A rs185975350 0.00185
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_001040108.2(MLH3):c.*3258T>C rs138812028 0.00182
NM_001040108.2(MLH3):c.2490T>G (p.Phe830Leu) rs114015611 0.00177
NM_001040108.2(MLH3):c.1939C>T (p.Arg647Cys) rs28756987 0.00171
NM_001040108.2(MLH3):c.-4T>G rs28756977 0.00168
NM_001040108.2(MLH3):c.1799G>A (p.Arg600Gln) rs28756984 0.00168
NM_001040108.2(MLH3):c.2167G>A (p.Val723Ile) rs28756989 0.00168
NM_001040108.2(MLH3):c.2924A>G (p.Asn975Ser) rs141066164 0.00160
NM_001040108.2(MLH3):c.429G>A (p.Gly143=) rs138943686 0.00160
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_001040108.2(MLH3):c.*1470C>T rs181758061 0.00154
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_001040108.2(MLH3):c.3746C>T (p.Ser1249Phe) rs139265757 0.00108
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys) rs28939071 0.00104
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_000251.3(MSH2):c.819A>G (p.Val273=) rs146577635 0.00101
NM_001040108.2(MLH3):c.3488G>A (p.Gly1163Asp) rs28757011 0.00100
NM_001040108.2(MLH3):c.423C>T (p.Ser141=) rs142179277 0.00100
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_001040108.2(MLH3):c.*1159A>C rs549461634 0.00081
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_001040108.2(MLH3):c.2838C>A (p.Ser946=) rs181990057 0.00073
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_000249.4(MLH1):c.375A>G (p.Ala125=) rs1800144 0.00062
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330 0.00053
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442 0.00048
NM_001040108.2(MLH3):c.2911G>A (p.Val971Ile) rs41555714 0.00048
NM_001040108.2(MLH3):c.*2469A>G rs764557856 0.00046
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_001040108.2(MLH3):c.*888C>T rs181069483 0.00043
NM_000251.3(MSH2):c.*129T>C rs587779059 0.00042
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00042
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_001040108.2(MLH3):c.-124A>C rs566279601 0.00041
NM_000249.4(MLH1):c.198C>T (p.Thr66=) rs61751642 0.00040
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814 0.00039
NM_001040108.2(MLH3):c.837C>T (p.Cys279=) rs149962294 0.00039
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400 0.00038
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile) rs142124529 0.00035
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_000535.7(PMS2):c.988+11T>C rs139969671 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_001040108.2(MLH3):c.*1291G>A rs543186188 0.00031
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_000179.3(MSH6):c.4002-10T>A rs545466048 0.00026
NM_001040108.2(MLH3):c.*1073A>C rs1032410483 0.00026
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000251.3(MSH2):c.*221G>T rs587779060 0.00024
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00022
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_001040108.2(MLH3):c.*889G>A rs886050772 0.00022
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000179.3(MSH6):c.4001+11_4001+15dup rs587779302 0.00019
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687 0.00019
NM_001040108.2(MLH3):c.*1235T>C rs189021867 0.00019
NM_001040108.2(MLH3):c.3280+14A>T rs142042839 0.00019
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_001040108.2(MLH3):c.3137G>A (p.Arg1046Gln) rs201303087 0.00018
NM_000535.7(PMS2):c.-7T>C rs199660792 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_001040108.2(MLH3):c.713A>C (p.Tyr238Ser) rs144707485 0.00016
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000251.2(MSH2):c.-116G>T rs587782786 0.00015
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051 0.00014
NM_001040108.2(MLH3):c.3752G>A (p.Arg1251Gln) rs201721635 0.00014
NM_000179.3(MSH6):c.-56G>T rs886056139 0.00013
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230 0.00012
NM_000249.4(MLH1):c.843A>C (p.Ala281=) rs146796765 0.00012
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796 0.00012
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_000251.3(MSH2):c.198C>T (p.Tyr66=) rs730881784 0.00011
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val) rs63750684 0.00011
NM_000535.7(PMS2):c.1689A>G (p.Arg563=) rs551226281 0.00011
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser) rs587779934 0.00010
NM_000535.7(PMS2):c.2276-10A>G rs573900018 0.00010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_000249.3(MLH1):c.-101C>G rs772482820 0.00009
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg) rs63750876 0.00009
NM_000251.2(MSH2):c.-73G>A rs552303079 0.00009
NM_000251.3(MSH2):c.-29C>T rs199841800 0.00009
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783 0.00009
NM_001040108.2(MLH3):c.*1110T>C rs774420872 0.00009
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly) rs199876321 0.00008
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln) rs146567853 0.00008
NM_000251.3(MSH2):c.1488A>G (p.Leu496=) rs267607960 0.00008
NM_000251.3(MSH2):c.2500G>A (p.Ala834Thr) rs63750757 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787 0.00007
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_000249.4(MLH1):c.42A>C (p.Thr14=) rs369737664 0.00007
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) rs4986984 0.00007
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939 0.00007
NM_000251.3(MSH2):c.1560A>G (p.Gly520=) rs63750820 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_001040108.2(MLH3):c.*1447C>T rs1351576949 0.00007
NM_001040108.2(MLH3):c.*646G>A rs754358704 0.00007
NM_001040108.2(MLH3):c.3576C>T (p.Leu1192=) rs376981545 0.00007
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser) rs61753793 0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914 0.00006
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809 0.00006
NM_000249.4(MLH1):c.1104G>A (p.Ser368=) rs769364808 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro) rs587779086 0.00006
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=) rs56076152 0.00006
NM_000251.3(MSH2):c.2400A>G (p.Leu800=) rs201298777 0.00006
NM_000251.3(MSH2):c.2503A>C (p.Asn835His) rs41295296 0.00006
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_000251.3(MSH2):c.512G>A (p.Arg171Lys) rs63750902 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_001040108.2(MLH3):c.277C>G (p.Arg93Gly) rs28756978 0.00006
NM_001040108.2(MLH3):c.3312C>T (p.Ser1104=) rs149369905 0.00006
NM_000179.3(MSH6):c.147C>T (p.Ala49=) rs768803986 0.00005
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000179.3(MSH6):c.2562G>T (p.Lys854Asn) rs759048538 0.00005
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=) rs63749834 0.00005
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430 0.00005
NM_000251.3(MSH2):c.843A>T (p.Ser281=) rs150197753 0.00005
NM_000535.7(PMS2):c.-4A>G rs544503598 0.00005
NM_001040108.2(MLH3):c.*772T>A rs182733472 0.00005
NM_000179.3(MSH6):c.3557-3A>T rs41295274 0.00004
NM_000179.3(MSH6):c.3801+5G>A rs201080919 0.00004
NM_000179.3(MSH6):c.3942A>G (p.Gln1314=) rs768042560 0.00004
NM_000249.4(MLH1):c.1269G>A (p.Arg423=) rs373076967 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_000251.2(MSH2):c.-76G>A rs34355730 0.00004
NM_000251.3(MSH2):c.1530G>C (p.Gln510His) rs587782355 0.00004
NM_000251.3(MSH2):c.2580G>A (p.Ser860=) rs752428475 0.00004
NM_000251.3(MSH2):c.336C>A (p.Ser112=) rs34312619 0.00004
NM_000535.6(PMS2):c.-46T>A rs765248325 0.00004
NM_000535.7(PMS2):c.*17G>C rs556089649 0.00004
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721 0.00004
NM_000535.7(PMS2):c.1936A>C (p.Arg646=) rs369582237 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_001040108.2(MLH3):c.-149G>C rs886050783 0.00004
NM_001040108.2(MLH3):c.2093A>G (p.Gln698Arg) rs148876417 0.00004
NM_001040108.2(MLH3):c.2373G>A (p.Leu791=) rs764724825 0.00004
NM_001040108.2(MLH3):c.4032C>T (p.Gly1344=) rs565238806 0.00004
NM_002354.3(EPCAM):c.-79C>T rs886056131 0.00004
NM_000179.3(MSH6):c.1167C>T (p.Pro389=) rs1042819 0.00003
NM_000179.3(MSH6):c.1267C>A (p.Leu423Ile) rs587781657 0.00003
NM_000179.3(MSH6):c.1915G>A (p.Glu639Lys) rs143517321 0.00003
NM_000179.3(MSH6):c.240A>G (p.Val80=) rs864622281 0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_000249.4(MLH1):c.1743G>A (p.Pro581=) rs567838745 0.00003
NM_000249.4(MLH1):c.539T>G (p.Val180Gly) rs63750102 0.00003
NM_000249.4(MLH1):c.91G>T (p.Ala31Ser) rs749671520 0.00003
NM_000249.4(MLH1):c.92C>G (p.Ala31Gly) rs730882127 0.00003
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000251.3(MSH2):c.2211-5T>G rs368596736 0.00003
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys) rs587779969 0.00003
NM_001040108.2(MLH3):c.*1990T>A rs886050769 0.00003
NM_001040108.2(MLH3):c.*2679A>G rs1018604766 0.00003
NM_001040108.2(MLH3):c.*3105C>G rs543449865 0.00003
NM_001040108.2(MLH3):c.1940G>A (p.Arg647His) rs61755653 0.00003
NM_001040108.2(MLH3):c.2684G>A (p.Arg895His) rs186838169 0.00003
NM_001040108.2(MLH3):c.3103G>A (p.Glu1035Lys) rs143865811 0.00003
NM_001040108.2(MLH3):c.3136C>T (p.Arg1046Trp) rs765313787 0.00003
NM_001040108.2(MLH3):c.3405C>T (p.Ser1135=) rs746155226 0.00003
NM_000179.3(MSH6):c.1668T>C (p.Tyr556=) rs730882130 0.00002
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn) rs730881798 0.00002
NM_000179.3(MSH6):c.2950A>C (p.Asn984His) rs146359682 0.00002
NM_000179.3(MSH6):c.3642A>G (p.Glu1214=) rs765247025 0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_000249.4(MLH1):c.928A>G (p.Thr310Ala) rs779581111 0.00002
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 0.00002
NM_000535.7(PMS2):c.1435C>G (p.His479Asp) rs376344586 0.00002
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys) rs778531080 0.00002
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671 0.00002
NM_000535.7(PMS2):c.705+3A>G rs764334813 0.00002
NM_001040108.2(MLH3):c.*1312G>A rs559234350 0.00002
NM_001040108.2(MLH3):c.124G>A (p.Ala42Thr) rs748676497 0.00002
NM_001040108.2(MLH3):c.3020A>G (p.Asn1007Ser) rs776639203 0.00002
NM_000179.3(MSH6):c.1170T>C (p.Asp390=) rs55882234 0.00001
NM_000179.3(MSH6):c.233G>A (p.Arg78Lys) rs864622425 0.00001
NM_000179.3(MSH6):c.2356T>C (p.Tyr786His) rs773193199 0.00001
NM_000179.3(MSH6):c.2410A>G (p.Lys804Glu) rs1064793552 0.00001
NM_000179.3(MSH6):c.2940A>G (p.Glu980=) rs730881818 0.00001
NM_000179.3(MSH6):c.333C>T (p.Tyr111=) rs786202772 0.00001
NM_000179.3(MSH6):c.997A>G (p.Thr333Ala) rs886056143 0.00001
NM_000249.3(MLH1):c.-114T>C rs886058380 0.00001
NM_000249.4(MLH1):c.*121A>G rs766562208 0.00001
NM_000249.4(MLH1):c.-22C>T rs771060933 0.00001
NM_000249.4(MLH1):c.1038+15C>T rs886058382 0.00001
NM_000249.4(MLH1):c.1175A>G (p.Lys392Arg) rs587780678 0.00001
NM_000249.4(MLH1):c.1236C>T (p.Val412=) rs369576099 0.00001
NM_000249.4(MLH1):c.1541A>G (p.Asn514Ser) rs772245091 0.00001
NM_000249.4(MLH1):c.1698T>C (p.Tyr566=) rs876658915 0.00001
NM_000249.4(MLH1):c.1989+12A>G rs755976424 0.00001
NM_000249.4(MLH1):c.2070C>T (p.Tyr690=) rs550890395 0.00001
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu) rs587779029 0.00001
NM_000249.4(MLH1):c.848A>G (p.Tyr283Cys) rs201931669 0.00001
NM_000251.2(MSH2):c.-43G>C rs781492698 0.00001
NM_000251.2(MSH2):c.-94C>G rs786202841 0.00001
NM_000251.2(MSH2):c.-98C>T rs777285149 0.00001
NM_000251.3(MSH2):c.1670C>G (p.Thr557Ser) rs139920308 0.00001
NM_000251.3(MSH2):c.1781C>T (p.Thr594Ile) rs1553368510 0.00001
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val) rs748797209 0.00001
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) rs63750790 0.00001
NM_000251.3(MSH2):c.2106G>A (p.Val702=) rs786201108 0.00001
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr) rs772662439 0.00001
NM_000251.3(MSH2):c.335C>G (p.Ser112Cys) rs769215192 0.00001
NM_000251.3(MSH2):c.669G>A (p.Leu223=) rs751195930 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000251.3(MSH2):c.816G>A (p.Ala272=) rs368912987 0.00001
NM_000251.3(MSH2):c.972G>A (p.Gln324=) rs63750505 0.00001
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys) rs376142390 0.00001
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys) rs886062400 0.00001
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala) rs786202383 0.00001
NM_000535.7(PMS2):c.353+4A>G rs760538709 0.00001
NM_000535.7(PMS2):c.354-5C>G rs200591010 0.00001
NM_001040108.2(MLH3):c.1125T>C (p.Asp375=) rs781394261 0.00001
NM_001040108.2(MLH3):c.1300A>G (p.Asn434Asp) rs886050777 0.00001
NM_001040108.2(MLH3):c.1427T>C (p.Ile476Thr) rs759144160 0.00001
NM_001040108.2(MLH3):c.1560G>T (p.Glu520Asp) rs886050776 0.00001
NM_001040108.2(MLH3):c.1736C>T (p.Thr579Ile) rs1479954154 0.00001
NM_001040108.2(MLH3):c.3384T>C (p.Thr1128=) rs370951929 0.00001
NM_001040108.2(MLH3):c.3689G>A (p.Arg1230His) rs781739661 0.00001
NM_001040108.2(MLH3):c.3751C>T (p.Arg1251Trp) rs754799700 0.00001
NM_001040108.2(MLH3):c.3784C>T (p.Pro1262Ser) rs372912259 0.00001
NM_002354.3(EPCAM):c.-192G>T rs376344699 0.00001
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788 0.00001
NC_000003.12:g.36993441C>G rs587778886
NM_000179.3(MSH6):c.*34G>C rs184571812
NM_000179.3(MSH6):c.-41G>T rs886056140
NM_000179.3(MSH6):c.-51G>T rs375109921
NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe) rs567785169
NM_000179.3(MSH6):c.2013G>A (p.Leu671=) rs765289515
NM_000179.3(MSH6):c.2087T>C (p.Ile696Thr) rs587779229
NM_000179.3(MSH6):c.2098C>A (p.Leu700Ile) rs587779230
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.2482G>A (p.Val828Ile) rs587781349
NM_000179.3(MSH6):c.249T>G (p.Ala83=) rs876658308
NM_000179.3(MSH6):c.2722G>A (p.Glu908Lys) rs886056144
NM_000179.3(MSH6):c.3215G>A (p.Gly1072Asp) rs781243845
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr) rs63750998
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=) rs35642130
NM_000179.3(MSH6):c.339C>T (p.His113=) rs886056141
NM_000179.3(MSH6):c.34C>A (p.Pro12Thr) rs587782084
NM_000179.3(MSH6):c.3647-3C>T rs1553332959
NM_000179.3(MSH6):c.3705T>C (p.Leu1235=) rs545552712
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu) rs202066386
NM_000179.3(MSH6):c.3851C>G (p.Thr1284Arg) rs63750836
NM_000179.3(MSH6):c.3873G>C (p.Lys1291Asn) rs1670110153
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000179.3(MSH6):c.531A>T (p.Gln177His) rs886056142
NM_000179.3(MSH6):c.628-13C>G rs538280815
NM_000179.3(MSH6):c.733A>T (p.Ile245Leu) rs762168786
NM_000179.3(MSH6):c.929T>G (p.Leu310Arg) rs777302246
NM_000249.3(MLH1):c.-117G>T rs565891017
NM_000249.3(MLH1):c.-86G>A rs558051715
NM_000249.4(MLH1):c.*158GATT[1] rs796807655
NM_000249.4(MLH1):c.*32C>T rs200903126
NM_000249.4(MLH1):c.*32CTT[1] rs193922366
NM_000249.4(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.4(MLH1):c.1524T>G (p.Ser508Arg) rs886058383
NM_000249.4(MLH1):c.1572G>C (p.Met524Ile) rs587779953
NM_000249.4(MLH1):c.1620G>A (p.Leu540=) rs786202409
NM_000249.4(MLH1):c.1731+11A>T rs886058384
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.1854G>A (p.Lys618=) rs786202638
NM_000249.4(MLH1):c.2024G>C (p.Ser675Thr) rs781637991
NM_000249.4(MLH1):c.52C>G (p.Arg18Gly) rs367654552
NM_000249.4(MLH1):c.546-5del rs1553643965
NM_000249.4(MLH1):c.81G>A (p.Arg27=) rs878853791
NM_000251.2(MSH2):c.-68G>A rs576303132
NM_000251.3(MSH2):c.*47G>A rs1196239075
NM_000251.3(MSH2):c.*52A>T rs886056138
NM_000251.3(MSH2):c.*64T>C rs1278729941
NM_000251.3(MSH2):c.*7C>G rs886056137
NM_000251.3(MSH2):c.1076+4T>A rs764606343
NM_000251.3(MSH2):c.1124C>G (p.Thr375Ser) rs774539871
NM_000251.3(MSH2):c.1192G>A (p.Ala398Thr) rs988252817
NM_000251.3(MSH2):c.1193C>T (p.Ala398Val) rs1060502019
NM_000251.3(MSH2):c.2005+3A>G rs1060502014
NM_000251.3(MSH2):c.209C>A (p.Ala70Glu) rs587782481
NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala) rs757268664
NM_000251.3(MSH2):c.2463C>T (p.Val821=) rs886056136
NM_000251.3(MSH2):c.2553T>G (p.Leu851=) rs1553370386
NM_000251.3(MSH2):c.562G>A (p.Glu188Lys) rs1064795622
NM_000251.3(MSH2):c.606C>G (p.Pro202=) rs63750600
NM_000251.3(MSH2):c.638T>G (p.Leu213Arg) rs1553350974
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000251.3(MSH2):c.755A>C (p.Gln252Pro) rs370906735
NM_000251.3(MSH2):c.942+26_942+29del rs11309117
NM_000251.3(MSH2):c.942+28_942+29del rs11309117
NM_000535.6(PMS2):c.-48C>A rs886062402
NM_000535.6(PMS2):c.-53G>A rs559634583
NM_000535.6(PMS2):c.-93G>T rs6976537
NM_000535.7(PMS2):c.1026A>C (p.Gln342His) rs561993366
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.1359G>A (p.Met453Ile) rs886062401
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1916G>A (p.Ser639Asn) rs876659769
NM_000535.7(PMS2):c.1949C>T (p.Ala650Val) rs886062399
NM_000535.7(PMS2):c.2174+9G>T rs1782431297
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2275+11A>T rs983422739
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.636G>A (p.Gln212=) rs1784804225
NM_000535.7(PMS2):c.893A>G (p.Asp298Gly) rs876658970
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_001040108.1(MLH3):c.-202A>C rs886050784
NM_001040108.1(MLH3):c.-208G>A rs886050785
NM_001040108.2(MLH3):c.*1341del rs5809689
NM_001040108.2(MLH3):c.*1347T>G rs539246160
NM_001040108.2(MLH3):c.*1381T>C rs1889846337
NM_001040108.2(MLH3):c.*1452G>T rs886050771
NM_001040108.2(MLH3):c.*1566G>A rs1555386072
NM_001040108.2(MLH3):c.*1628G>A rs571716035
NM_001040108.2(MLH3):c.*1674T>C rs1889836174
NM_001040108.2(MLH3):c.*1701del rs886050770
NM_001040108.2(MLH3):c.*187T>C rs1889916394
NM_001040108.2(MLH3):c.*2058G>T rs190537801
NM_001040108.2(MLH3):c.*2086C>T rs886050768
NM_001040108.2(MLH3):c.*2398C>A rs1889806410
NM_001040108.2(MLH3):c.*2470C>T rs1889802435
NM_001040108.2(MLH3):c.*2495C>T rs1889801175
NM_001040108.2(MLH3):c.*3047G>T rs1033159745
NM_001040108.2(MLH3):c.*3048del rs886050767
NM_001040108.2(MLH3):c.*3094C>T rs1243766498
NM_001040108.2(MLH3):c.*3140C>G rs77514025
NM_001040108.2(MLH3):c.*541A>G rs1889895952
NM_001040108.2(MLH3):c.*563A>G rs765593107
NM_001040108.2(MLH3):c.*744A>G rs886050774
NM_001040108.2(MLH3):c.*755T>C rs1889885062
NM_001040108.2(MLH3):c.*797dup rs886050773
NM_001040108.2(MLH3):c.*884C>G rs1889877324
NM_001040108.2(MLH3):c.*957_*958delinsAT rs386778871
NM_001040108.2(MLH3):c.-120G>A rs886050782
NM_001040108.2(MLH3):c.-27G>A rs886050780
NM_001040108.2(MLH3):c.-63-10dup rs886050781
NM_001040108.2(MLH3):c.1144G>T (p.Val382Leu) rs558393444
NM_001040108.2(MLH3):c.1481A>G (p.His494Arg) rs760778201
NM_001040108.2(MLH3):c.149T>A (p.Phe50Tyr) rs148409389
NM_001040108.2(MLH3):c.1814C>T (p.Ser605Phe) rs1892361991
NM_001040108.2(MLH3):c.206T>C (p.Val69Ala) rs886050779
NM_001040108.2(MLH3):c.2128T>C (p.Leu710=) rs1892333159
NM_001040108.2(MLH3):c.2221G>A (p.Val741Ile) rs28756990
NM_001040108.2(MLH3):c.2987G>A (p.Gly996Glu) rs886050775
NM_001040108.2(MLH3):c.3465+14A>G rs775972214
NM_001040108.2(MLH3):c.4091-2A>C rs906969002
NM_001040108.2(MLH3):c.4239A>G (p.Lys1413=) rs975447813
NM_001040108.2(MLH3):c.961A>G (p.Met321Val) rs886050778
NM_002354.3(EPCAM):c.*147dup rs886056132

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