ClinVar Miner

List of variants studied for colorectal cancer by Counsyl

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 798
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HGVS dbSNP gnomAD frequency
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.457+52T>A rs3136282 0.29585
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.164-108G>C rs12538294 0.06053
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_000535.7(PMS2):c.2006+6G>A rs111905775 0.04390
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_002354.3(EPCAM):c.859-7C>T rs72882786 0.02290
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_002354.3(EPCAM):c.426-20A>G rs6744170 0.01762
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_000249.4(MLH1):c.1038+51C>T rs55986674 0.00582
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_000179.3(MSH6):c.3801+17T>C rs3136365 0.00159
NM_000251.1(MSH2):c.-179C>T rs17224094 0.00159
NM_000179.3(MSH6):c.3801+21T>C rs34315174 0.00151
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_000249.4(MLH1):c.589-25G>A rs188146618 0.00101
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
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_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
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_000179.3(MSH6):c.1869C>T (p.Pro623=) rs141242295 0.00058
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330 0.00053
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_000179.3(MSH6):c.491A>C (p.His164Pro) rs146469162 0.00045
NM_000179.3(MSH6):c.3960A>G (p.Ala1320=) rs373425206 0.00042
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813 0.00041
NM_000251.3(MSH2):c.1511-41G>C rs202215396 0.00038
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser) rs34938432 0.00037
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala) rs3136334 0.00033
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000251.3(MSH2):c.1277-16T>C rs368653974 0.00024
NM_000179.3(MSH6):c.3438+11_3438+14del rs377746844 0.00023
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00019
NM_000179.3(MSH6):c.4001+11_4001+15dup rs587779302 0.00019
NM_000251.3(MSH2):c.1276+47T>A rs148018406 0.00019
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_000179.3(MSH6):c.2925C>T (p.Asn975=) rs139026662 0.00016
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000251.3(MSH2):c.1276+16G>A rs368120695 0.00016
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722 0.00016
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051 0.00014
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly) rs63750650 0.00014
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr) rs377403073 0.00014
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro) rs763702846 0.00013
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly) rs554012110 0.00013
NM_000249.4(MLH1):c.117-48A>G rs377111182 0.00013
NM_000251.3(MSH2):c.-3G>C rs587779960 0.00013
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364 0.00012
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser) rs34014629 0.00011
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met) rs63750370 0.00011
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser) rs150478207 0.00011
NM_000249.4(MLH1):c.884+16A>G rs377598055 0.00011
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala) rs548407418 0.00011
NM_000251.3(MSH2):c.198C>T (p.Tyr66=) rs730881784 0.00011
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val) rs2229061 0.00011
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val) rs63750684 0.00011
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys) rs542838372 0.00010
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys) rs372990379 0.00010
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His) rs147852216 0.00010
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00010
NM_000251.3(MSH2):c.-181G>A rs786201698 0.00010
NM_000251.3(MSH2):c.1662-23A>G rs56404027 0.00010
NM_000535.7(PMS2):c.2276-10A>G rs573900018 0.00010
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082 0.00010
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu) rs587780062 0.00010
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser) rs587778531 0.00009
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212 0.00009
NM_000179.3(MSH6):c.3439-10T>A rs730881819 0.00009
NM_000249.3(MLH1):c.-42C>T rs41285097 0.00009
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser) rs375853155 0.00009
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu) rs587779074 0.00009
NM_000251.3(MSH2):c.1276+11A>G rs189015988 0.00009
NM_000251.3(MSH2):c.2802G>A (p.Thr934=) rs150259097 0.00009
NM_000251.3(MSH2):c.367-19A>T rs730881783 0.00009
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) rs63751107 0.00009
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023 0.00009
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly) rs199876321 0.00008
NM_000179.3(MSH6):c.457+19_457+20del rs1491215647 0.00008
NM_000249.4(MLH1):c.1558+5G>A rs199935667 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.2458+16G>A rs373624698 0.00008
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000251.3(MSH2):c.820A>G (p.Ile274Val) rs371944271 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704 0.00008
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr) rs202127474 0.00007
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu) rs148317871 0.00007
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_000249.4(MLH1):c.545+19G>T rs41285099 0.00007
NM_000251.3(MSH2):c.1560A>G (p.Gly520=) rs63750820 0.00007
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000179.3(MSH6):c.178T>C (p.Leu60=) rs35819209 0.00006
NM_000179.3(MSH6):c.2906A>T (p.Tyr969Phe) rs63749919 0.00006
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329 0.00006
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914 0.00006
NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr) rs150990541 0.00006
NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp) rs773763465 0.00006
NM_000179.3(MSH6):c.643G>A (p.Val215Ile) rs145959653 0.00006
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp) rs374486449 0.00006
NM_000249.4(MLH1):c.1104G>A (p.Ser368=) rs769364808 0.00006
NM_000249.4(MLH1):c.117-39G>A rs1057517605 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.69A>G (p.Glu23=) rs63750555 0.00006
NM_000249.4(MLH1):c.954C>T (p.His318=) rs146777069 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000251.1(MSH2):c.-182C>T rs876658327 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_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462 0.00006
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg) rs141084758 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934 0.00006
NM_000535.7(PMS2):c.803+23A>T rs370719706 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu) rs201518545 0.00005
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=) rs61748084 0.00005
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=) rs63749834 0.00005
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp) rs375459388 0.00005
NM_000179.3(MSH6):c.3852G>A (p.Thr1284=) rs2229018 0.00005
NM_000249.4(MLH1):c.1128T>C (p.Asp376=) rs267607824 0.00005
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430 0.00005
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys) rs35045067 0.00005
NM_000249.4(MLH1):c.438A>G (p.Gln146=) rs377279035 0.00005
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln) rs138705565 0.00005
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu) rs201334592 0.00005
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383 0.00005
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399 0.00005
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469 0.00004
NM_000179.3(MSH6):c.1144C>T (p.His382Tyr) rs587779207 0.00004
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr) rs200938360 0.00004
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly) rs63751450 0.00004
NM_000179.3(MSH6):c.242C>T (p.Ala81Val) rs587779924 0.00004
NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr) rs190075874 0.00004
NM_000179.3(MSH6):c.2904C>G (p.Val968=) rs150683226 0.00004
NM_000179.3(MSH6):c.3232G>C (p.Val1078Leu) rs587779932 0.00004
NM_000179.3(MSH6):c.364G>A (p.Glu122Lys) rs143036974 0.00004
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=) rs773807182 0.00004
NM_000179.3(MSH6):c.3801+5G>A rs201080919 0.00004
NM_000179.3(MSH6):c.4001+10dup rs730882138 0.00004
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147 0.00004
NM_000179.3(MSH6):c.749T>C (p.Val250Ala) rs587781275 0.00004
NM_000179.3(MSH6):c.972A>C (p.Lys324Asn) rs876658610 0.00004
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr) rs141344760 0.00004
NM_000249.4(MLH1):c.1269G>A (p.Arg423=) rs373076967 0.00004
NM_000249.4(MLH1):c.1284T>C (p.Asp428=) rs772555970 0.00004
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 0.00004
NM_000249.4(MLH1):c.1628A>G (p.His543Arg) rs730881742 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) rs63750266 0.00004
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys) rs63750465 0.00004
NM_000249.4(MLH1):c.381-43C>G rs368847278 0.00004
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys) rs367654552 0.00004
NM_000249.4(MLH1):c.579A>G (p.Ser193=) rs587781038 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala) rs371302926 0.00004
NM_000251.1(MSH2):c.-225G>C rs138068023 0.00004
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val) rs748115066 0.00004
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys) rs63750029 0.00004
NM_000251.3(MSH2):c.1601G>A (p.Arg534His) rs587778523 0.00004
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe) rs730881777 0.00004
NM_000251.3(MSH2):c.2211-6C>A rs267608003 0.00004
NM_000251.3(MSH2):c.287G>A (p.Arg96His) rs63750002 0.00004
NM_000251.3(MSH2):c.336C>A (p.Ser112=) rs34312619 0.00004
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg) rs587779973 0.00004
NM_000535.6(PMS2):c.-46T>A rs765248325 0.00004
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721 0.00004
NM_000535.7(PMS2):c.178G>A (p.Asp60Asn) rs587782176 0.00004
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr) rs769554577 0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser) rs777903002 0.00004
NM_000179.3(MSH6):c.-6G>C rs730881822 0.00003
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg) rs63749973 0.00003
NM_000179.3(MSH6):c.1870G>A (p.Gly624Ser) rs868760377 0.00003
NM_000179.3(MSH6):c.2319C>T (p.Leu773=) rs63749895 0.00003
NM_000179.3(MSH6):c.240A>G (p.Val80=) rs864622281 0.00003
NM_000179.3(MSH6):c.3071G>A (p.Arg1024Gln) rs372705506 0.00003
NM_000179.3(MSH6):c.3100C>T (p.Arg1034Trp) rs587779930 0.00003
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His) rs63750253 0.00003
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=) rs747771350 0.00003
NM_000179.3(MSH6):c.3543C>G (p.Asp1181Glu) rs267608100 0.00003
NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys) rs367912290 0.00003
NM_000179.3(MSH6):c.3800T>C (p.Met1267Thr) rs148445930 0.00003
NM_000179.3(MSH6):c.393A>C (p.Val131=) rs752488540 0.00003
NM_000179.3(MSH6):c.4002-14T>C rs587781041 0.00003
NM_000179.3(MSH6):c.628-12C>T rs752105994 0.00003
NM_000249.4(MLH1):c.116+5G>A rs267607710 0.00003
NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu) rs63750226 0.00003
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn) rs771044689 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.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn) rs200076893 0.00003
NM_000249.4(MLH1):c.539T>G (p.Val180Gly) rs63750102 0.00003
NM_000249.4(MLH1):c.884+15A>G rs372817491 0.00003
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys) rs752373431 0.00003
NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys) rs63751412 0.00003
NM_000251.3(MSH2):c.1331G>T (p.Arg444Leu) rs557339938 0.00003
NM_000251.3(MSH2):c.1382A>C (p.Asp461Ala) rs730881756 0.00003
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln) rs56170584 0.00003
NM_000251.3(MSH2):c.1760-16T>G rs768370188 0.00003
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00003
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile) rs549467183 0.00003
NM_000251.3(MSH2):c.2006-26dup rs781614743 0.00003
NM_000251.3(MSH2):c.211+8C>T rs267607916 0.00003
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr) rs373226409 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.2458+8C>G rs189025757 0.00003
NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp) rs587781453 0.00003
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala) rs63750797 0.00003
NM_000251.3(MSH2):c.260C>G (p.Ser87Cys) rs587781447 0.00003
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys) rs587779969 0.00003
NM_000251.3(MSH2):c.399C>T (p.Asp133=) rs61756462 0.00003
NM_000251.3(MSH2):c.835C>G (p.Leu279Val) rs375351205 0.00003
NM_000251.3(MSH2):c.943-25T>C rs775155213 0.00003
NM_000251.3(MSH2):c.968C>G (p.Ser323Cys) rs63750732 0.00003
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp) rs267607938 0.00003
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser) rs864622274 0.00003
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu) rs761748894 0.00003
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp) rs573374779 0.00003
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878 0.00003
NM_000179.3(MSH6):c.1082G>A (p.Arg361His) rs63750440 0.00002
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000179.3(MSH6):c.1732C>T (p.His578Tyr) rs768854566 0.00002
NM_000179.3(MSH6):c.2092C>G (p.Gln698Glu) rs63750832 0.00002
NM_000179.3(MSH6):c.2241G>A (p.Leu747=) rs377722465 0.00002
NM_000179.3(MSH6):c.2508C>T (p.Asn836=) rs758170249 0.00002
NM_000179.3(MSH6):c.2511C>G (p.His837Gln) rs587779925 0.00002
NM_000179.3(MSH6):c.2624T>C (p.Met875Thr) rs774774596 0.00002
NM_000179.3(MSH6):c.2950A>C (p.Asn984His) rs146359682 0.00002
NM_000179.3(MSH6):c.3163G>A (p.Ala1055Thr) rs587779254 0.00002
NM_000179.3(MSH6):c.3205G>C (p.Gly1069Arg) rs764113705 0.00002
NM_000179.3(MSH6):c.321T>C (p.Pro107=) rs730881823 0.00002
NM_000179.3(MSH6):c.3220A>T (p.Met1074Leu) rs730881804 0.00002
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser) rs186240214 0.00002
NM_000179.3(MSH6):c.3600A>G (p.Ile1200Met) rs587781482 0.00002
NM_000179.3(MSH6):c.3740C>G (p.Thr1247Ser) rs786204182 0.00002
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836 0.00002
NM_000179.3(MSH6):c.3972G>C (p.Glu1324Asp) rs587779938 0.00002
NM_000179.3(MSH6):c.4000_4001+17dup rs1064794929 0.00002
NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp) rs786204130 0.00002
NM_000179.3(MSH6):c.4062G>T (p.Leu1354=) rs863224335 0.00002
NM_000179.3(MSH6):c.751A>G (p.Ile251Val) rs554884560 0.00002
NM_000179.3(MSH6):c.94G>T (p.Gly32Cys) rs776859837 0.00002
NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp) rs63751703 0.00002
NM_000249.4(MLH1):c.595G>C (p.Glu199Gln) rs63749887 0.00002
NM_000249.4(MLH1):c.776T>C (p.Leu259Ser) rs56250509 0.00002
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln) rs63750268 0.00002
NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala) rs150503781 0.00002
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu) rs374135434 0.00002
NM_000251.3(MSH2):c.1510+11G>C rs370675562 0.00002
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys) rs63750328 0.00002
NM_000251.3(MSH2):c.1854A>G (p.Pro618=) rs786203744 0.00002
NM_000251.3(MSH2):c.2061C>G (p.Leu687=) rs63750032 0.00002
NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile) rs267608015 0.00002
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr) rs587780687 0.00002
NM_000251.3(MSH2):c.2777T>A (p.Ile926Asn) rs199747712 0.00002
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln) rs587779967 0.00002
NM_000251.3(MSH2):c.304G>A (p.Val102Ile) rs193922373 0.00002
NM_000251.3(MSH2):c.366+24A>G rs200890440 0.00002
NM_000251.3(MSH2):c.42G>A (p.Ala14=) rs374396150 0.00002
NM_000251.3(MSH2):c.438T>C (p.Gly146=) rs587779161 0.00002
NM_000251.3(MSH2):c.762T>C (p.Asn254=) rs587779180 0.00002
NM_000251.3(MSH2):c.792+5A>G rs267607935 0.00002
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu) rs750746034 0.00002
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013 0.00002
NM_000535.7(PMS2):c.139C>G (p.Leu47Val) rs766203500 0.00002
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val) rs150630090 0.00002
NM_000535.7(PMS2):c.412G>C (p.Asp138His) rs863224678 0.00002
NM_000535.7(PMS2):c.598G>A (p.Val200Ile) rs587778620 0.00002
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633 0.00002
NM_000535.7(PMS2):c.868T>G (p.Phe290Val) rs587782833 0.00002
NM_000535.7(PMS2):c.964G>A (p.Val322Ile) rs587782208 0.00002
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val) rs730881788 0.00001
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile) rs375974046 0.00001
NM_000179.3(MSH6):c.1170T>C (p.Asp390=) rs55882234 0.00001
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065 0.00001
NM_000179.3(MSH6):c.1209C>G (p.Leu403=) rs748603803 0.00001
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro) rs63750741 0.00001
NM_000179.3(MSH6):c.136G>A (p.Gly46Arg) rs863224616 0.00001
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter) rs63750909 0.00001
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg) rs63751009 0.00001
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp) rs373726731 0.00001
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala) rs63751098 0.00001
NM_000179.3(MSH6):c.1652G>A (p.Gly551Asp) rs587779917 0.00001
NM_000179.3(MSH6):c.1677C>T (p.Cys559=) rs63749893 0.00001
NM_000179.3(MSH6):c.1740G>A (p.Ser580=) rs762089407 0.00001
NM_000179.3(MSH6):c.1776A>T (p.Val592=) rs56132616 0.00001
NM_000179.3(MSH6):c.1858G>A (p.Gly620Ser) rs876661043 0.00001
NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu) rs755847154 0.00001
NM_000179.3(MSH6):c.1995G>C (p.Glu665Asp) rs587778532 0.00001
NM_000179.3(MSH6):c.1999G>C (p.Asp667His) rs151086192 0.00001
NM_000179.3(MSH6):c.2025G>C (p.Glu675Asp) rs587779223 0.00001
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg) rs143643688 0.00001
NM_000179.3(MSH6):c.2035T>C (p.Leu679=) rs757741943 0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000179.3(MSH6):c.2107A>G (p.Met703Val) rs751867550 0.00001
NM_000179.3(MSH6):c.2147C>T (p.Thr716Ile) rs587782805 0.00001
NM_000179.3(MSH6):c.2154C>T (p.Ser718=) rs771662801 0.00001
NM_000179.3(MSH6):c.2175C>G (p.Ile725Met) rs63750304 0.00001
NM_000179.3(MSH6):c.2177T>A (p.Phe726Tyr) rs574358605 0.00001
NM_000179.3(MSH6):c.2249C>A (p.Thr750Lys) rs730881817 0.00001
NM_000179.3(MSH6):c.2291C>A (p.Thr764Asn) rs561198849 0.00001
NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser) rs587781462 0.00001
NM_000179.3(MSH6):c.2320C>G (p.Leu774Val) rs864622324 0.00001
NM_000179.3(MSH6):c.2400T>C (p.Val800=) rs267608071 0.00001
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys) rs587779923 0.00001
NM_000179.3(MSH6):c.267C>G (p.Asp89Glu) rs762818044 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr) rs143520357 0.00001
NM_000179.3(MSH6):c.2876G>A (p.Arg959His) rs757653982 0.00001
NM_000179.3(MSH6):c.2951A>C (p.Asn984Thr) rs587779927 0.00001
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala) rs746631156 0.00001
NM_000179.3(MSH6):c.2960C>T (p.Thr987Ile) rs587779928 0.00001
NM_000179.3(MSH6):c.2982C>T (p.Tyr994=) rs367758473 0.00001
NM_000179.3(MSH6):c.2992T>A (p.Ser998Thr) rs730881800 0.00001
NM_000179.3(MSH6):c.3084A>T (p.Ser1028=) rs786201843 0.00001
NM_000179.3(MSH6):c.3113A>G (p.Tyr1038Cys) rs773357672 0.00001
NM_000179.3(MSH6):c.3181C>G (p.Leu1061Val) rs1553331250 0.00001
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=) rs199643502 0.00001
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala) rs376452612 0.00001
NM_000179.3(MSH6):c.3255C>G (p.Thr1085=) rs371568610 0.00001
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn) rs773955368 0.00001
NM_000179.3(MSH6):c.333C>T (p.Tyr111=) rs786202772 0.00001
NM_000179.3(MSH6):c.3438+17G>C rs759737239 0.00001
NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly) rs587782625 0.00001
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs) rs63751327 0.00001
NM_000179.3(MSH6):c.3529C>G (p.Leu1177Val) rs748398941 0.00001
NM_000179.3(MSH6):c.3604A>G (p.Met1202Val) rs369778514 0.00001
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr) rs587779273 0.00001
NM_000179.3(MSH6):c.361C>T (p.Arg121Cys) rs763593669 0.00001
NM_000179.3(MSH6):c.363C>T (p.Arg121=) rs587779276 0.00001
NM_000179.3(MSH6):c.3686A>G (p.Asn1229Ser) rs730881807 0.00001
NM_000179.3(MSH6):c.3936T>C (p.Val1312=) rs61753796 0.00001
NM_000179.3(MSH6):c.3949C>G (p.His1317Asp) rs759092293 0.00001
NM_000179.3(MSH6):c.4002-4T>C rs370428032 0.00001
NM_000179.3(MSH6):c.4039G>C (p.Ala1347Pro) rs730881809 0.00001
NM_000179.3(MSH6):c.4068G>C (p.Leu1356Phe) rs192740549 0.00001
NM_000179.3(MSH6):c.458-13C>G rs1057522695 0.00001
NM_000179.3(MSH6):c.458-17A>G rs554847828 0.00001
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter) rs63749873 0.00001
NM_000179.3(MSH6):c.503C>G (p.Ala168Gly) rs774162322 0.00001
NM_000179.3(MSH6):c.521G>A (p.Arg174Lys) rs863224629 0.00001
NM_000179.3(MSH6):c.533G>A (p.Arg178His) rs786204186 0.00001
NM_000179.3(MSH6):c.637A>C (p.Thr213Pro) rs876659071 0.00001
NM_000179.3(MSH6):c.713C>A (p.Ser238Tyr) rs587782510 0.00001
NM_000179.3(MSH6):c.727C>T (p.Arg243Cys) rs377216828 0.00001
NM_000179.3(MSH6):c.87C>G (p.Arg29=) rs778354962 0.00001
NM_000179.3(MSH6):c.910G>A (p.Val304Met) rs876661207 0.00001
NM_000179.3(MSH6):c.941G>A (p.Ser314Asn) rs760100983 0.00001
NM_000249.4(MLH1):c.*3A>G rs587778880 0.00001
NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp) rs587781750 0.00001
NM_000249.4(MLH1):c.1039-5T>C rs587782626 0.00001
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn) rs587779951 0.00001
NM_000249.4(MLH1):c.1261A>G (p.Ser421Gly) rs755898663 0.00001
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp) rs587779952 0.00001
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln) rs63751083 0.00001
NM_000249.4(MLH1):c.144A>C (p.Gln48His) rs147342421 0.00001
NM_000249.4(MLH1):c.1591G>A (p.Val531Met) rs764663152 0.00001
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg) rs587779954 0.00001
NM_000249.4(MLH1):c.1682A>G (p.Tyr561Cys) rs1289807424 0.00001
NM_000249.4(MLH1):c.1731+14C>G rs745643356 0.00001
NM_000249.4(MLH1):c.1731+8T>C rs370108219 0.00001
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr) rs587782621 0.00001
NM_000249.4(MLH1):c.1896+7C>T rs863224339 0.00001
NM_000249.4(MLH1):c.1990-6G>A rs117221851 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.207+26del rs1057517621 0.00001
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys) rs587778986 0.00001
NM_000249.4(MLH1):c.2172G>A (p.Leu724=) rs780045031 0.00001
NM_000249.4(MLH1):c.283T>G (p.Ser95Ala) rs63751070 0.00001
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter) rs63751221 0.00001
NM_000249.4(MLH1):c.546-18T>C rs1057517622 0.00001
NM_000249.4(MLH1):c.601G>C (p.Val201Leu) rs534184145 0.00001
NM_000249.4(MLH1):c.636C>T (p.Thr212=) rs138735345 0.00001
NM_000249.4(MLH1):c.682C>A (p.Leu228Met) rs751628735 0.00001
NM_000249.4(MLH1):c.721A>G (p.Lys241Glu) rs587778447 0.00001
NM_000249.4(MLH1):c.791-14T>C rs751254837 0.00001
NM_000249.4(MLH1):c.884+10C>T rs864622424 0.00001
NM_000249.4(MLH1):c.884+10del rs878853793 0.00001
NM_000249.4(MLH1):c.887T>C (p.Leu296Ser) rs63750547 0.00001
NM_000249.4(MLH1):c.979C>G (p.Gln327Glu) rs587782087 0.00001
NM_000251.3(MSH2):c.-9G>C rs547444746 0.00001
NM_000251.3(MSH2):c.1077-15G>T rs753277524 0.00001
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg) rs776174711 0.00001
NM_000251.3(MSH2):c.1145G>A (p.Arg382His) rs267607947 0.00001
NM_000251.3(MSH2):c.115C>A (p.Arg39=) rs786202334 0.00001
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr) rs878853798 0.00001
NM_000251.3(MSH2):c.11A>T (p.Gln4Leu) rs754562075 0.00001
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu) rs761960690 0.00001
NM_000251.3(MSH2):c.1311G>T (p.Val437=) rs730881781 0.00001
NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn) rs587781331 0.00001
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val) rs587781314 0.00001
NM_000251.3(MSH2):c.146A>T (p.Asp49Val) rs63750335 0.00001
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln) rs199744440 0.00001
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser) rs267607967 0.00001
NM_000251.3(MSH2):c.1760-10T>A rs767536391 0.00001
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser) rs747504492 0.00001
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val) rs748797209 0.00001
NM_000251.3(MSH2):c.1831G>A (p.Val611Met) rs369385048 0.00001
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln) rs759263820 0.00001
NM_000251.3(MSH2):c.1897A>G (p.Ile633Val) rs771695599 0.00001
NM_000251.3(MSH2):c.1933C>G (p.Gln645Glu) rs267607982 0.00001
NM_000251.3(MSH2):c.2006-4G>A rs369853630 0.00001
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val) rs755920849 0.00001
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) rs63750790 0.00001
NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr) rs564657106 0.00001
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr) rs772662439 0.00001
NM_000251.3(MSH2):c.220A>C (p.Asn74His) rs150548839 0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val) rs63749841 0.00001
NM_000251.3(MSH2):c.2525A>T (p.Glu842Val) rs373393954 0.00001
NM_000251.3(MSH2):c.2634+12T>C rs372907481 0.00001
NM_000251.3(MSH2):c.274C>G (p.Leu92Val) rs587779154 0.00001
NM_000251.3(MSH2):c.437G>T (p.Gly146Val) rs772052262 0.00001
NM_000251.3(MSH2):c.459C>T (p.Ser153=) rs63751065 0.00001
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly) rs141021599 0.00001
NM_000251.3(MSH2):c.5C>T (p.Ala2Val) rs587778521 0.00001
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg) rs63750574 0.00001
NM_000251.3(MSH2):c.646-3T>C rs267607930 0.00001
NM_000251.3(MSH2):c.701C>T (p.Thr234Ile) rs730881773 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln) rs63751455 0.00001
NM_000251.3(MSH2):c.934C>G (p.Leu312Val) rs756398636 0.00001
NM_000251.3(MSH2):c.972G>A (p.Gln324=) rs63750505 0.00001
NM_000251.3(MSH2):c.982G>C (p.Ala328Pro) rs753237286 0.00001
NM_000535.7(PMS2):c.106A>C (p.Ser36Arg) rs587781918 0.00001
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu) rs587782602 0.00001
NM_000535.7(PMS2):c.163+4A>G rs864622749 0.00001
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304 0.00001
NM_000535.7(PMS2):c.1798A>G (p.Met600Val) rs1304634005 0.00001
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg) rs267608167 0.00001
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr) rs778251286 0.00001
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val) rs1060503144 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.2174+1G>A rs267608172 0.00001
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys) rs751235177 0.00001
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466 0.00001
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala) rs786202383 0.00001
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059 0.00001
NM_000535.7(PMS2):c.354-7C>T rs758471869 0.00001
NM_000535.7(PMS2):c.386C>T (p.Ala129Val) rs752284380 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000535.7(PMS2):c.466A>G (p.Thr156Ala) rs786204206 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000535.7(PMS2):c.705+13G>A rs776790763 0.00001
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358 0.00001
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln) rs373239341 0.00001
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955 0.00001
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585 0.00001
NM_000535.7(PMS2):c.962T>C (p.Val321Ala) rs186448384 0.00001
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852 0.00001
NM_000179.3(MSH6):c.*24_*28del rs587779200
NM_000179.3(MSH6):c.102CGC[1] (p.Ala37del) rs1553408197
NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe) rs567785169
NM_000179.3(MSH6):c.115G>C (p.Gly39Arg) rs751838296
NM_000179.3(MSH6):c.118G>A (p.Ala40Thr) rs754231971
NM_000179.3(MSH6):c.125_132dup (p.Gly45fs) rs1553408245
NM_000179.3(MSH6):c.1347G>A (p.Leu449=) rs786201760
NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs) rs878853702
NM_000179.3(MSH6):c.150G>T (p.Trp50Cys) rs876659674
NM_000179.3(MSH6):c.1528AGG[1] (p.Arg511del) rs993163672
NM_000179.3(MSH6):c.1560T>C (p.Gly520=) rs762396230
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000179.3(MSH6):c.1763A>G (p.His588Arg) rs786202725
NM_000179.3(MSH6):c.1786T>A (p.Phe596Ile) rs587779918
NM_000179.3(MSH6):c.1793A>G (p.Lys598Arg) rs587779919
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter) rs730881816
NM_000179.3(MSH6):c.1820C>G (p.Thr607Arg) rs786201676
NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys) rs772363120
NM_000179.3(MSH6):c.188C>A (p.Ser63Tyr) rs587779920
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.215_258del (p.Leu72fs) rs1553408380
NM_000179.3(MSH6):c.2187C>T (p.Ala729=) rs375610656
NM_000179.3(MSH6):c.2194C>A (p.Arg732=) rs63751127
NM_000179.3(MSH6):c.2203C>A (p.Leu735Ile) rs786204071
NM_000179.3(MSH6):c.2235T>G (p.Ile745Met) rs556339046
NM_000179.3(MSH6):c.2282G>A (p.Arg761Lys) rs587779233
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.249T>G (p.Ala83=) rs876658308
NM_000179.3(MSH6):c.2518A>C (p.Ser840Arg) rs863224624
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter) rs587779241
NM_000179.3(MSH6):c.254CCA[1] (p.Thr86del) rs1553408448
NM_000179.3(MSH6):c.255C>A (p.Pro85=) rs587779242
NM_000179.3(MSH6):c.260+15del rs1553408495
NM_000179.3(MSH6):c.2641delinsAAAA (p.Gly881delinsLysSer) rs63751408
NM_000179.3(MSH6):c.2692_2693del (p.Asn897_Pro898insTer) rs1553414029
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs) rs730881827
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del) rs267608073
NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter) rs1553410230
NM_000179.3(MSH6):c.3111C>A (p.Phe1037Leu) rs587781673
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.3(MSH6):c.3173-10_3173-6del rs781520783
NM_000179.3(MSH6):c.3173-12C>T rs1057517629
NM_000179.3(MSH6):c.3173-18T>C rs189672273
NM_000179.3(MSH6):c.3200G>C (p.Ser1067Thr) rs730881803
NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs) rs1057517552
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3246G>C (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3256C>G (p.Pro1086Ala) rs756108143
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala) rs63750998
NM_000179.3(MSH6):c.3261C>T (p.Pro1087=) rs370226185
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3364C>G (p.Gln1122Glu) rs1060502892
NM_000179.3(MSH6):c.3371dup (p.Asn1124fs) rs1553331659
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3467T>C (p.Met1156Thr) rs876659549
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000179.3(MSH6):c.3556+32_3556+35del rs780754745
NM_000179.3(MSH6):c.3556+36_3556+39del rs55684722
NM_000179.3(MSH6):c.3610G>A (p.Ala1204Thr) rs869312799
NM_000179.3(MSH6):c.3634G>A (p.Val1212Met) rs864622748
NM_000179.3(MSH6):c.3647-11dup rs774223571
NM_000179.3(MSH6):c.3647-6T>C rs182871847
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs) rs193922343
NM_000179.3(MSH6):c.3706G>C (p.Ala1236Pro) rs1553333039
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.3757_3767del (p.Val1253fs) rs1553333093
NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala) rs202066386
NM_000179.3(MSH6):c.3792A>C (p.Leu1264=) rs786202051
NM_000179.3(MSH6):c.3802-8T>G rs864622195
NM_000179.3(MSH6):c.3803C>T (p.Ala1268Val) rs587779293
NM_000179.3(MSH6):c.3833C>G (p.Pro1278Arg) rs201191389
NM_000179.3(MSH6):c.3836G>A (p.Ser1279Asn) rs864622400
NM_000179.3(MSH6):c.3837_3843del (p.Ser1279fs) rs1553333370
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs) rs63751319
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs) rs267608128
NM_000179.3(MSH6):c.3852G>T (p.Thr1284=) rs2229018
NM_000179.3(MSH6):c.38A>C (p.Lys13Thr) rs41294988
NM_000179.3(MSH6):c.3939_3959dup (p.Gln1314_Ala1320dup) rs1553333670
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.3(MSH6):c.3971AGA[1] (p.Lys1325del) rs587779300
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs) rs267608121
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.4001+27TAAC[3] rs267608136
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4001+4_4001+8dup rs587782853
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.4002-11_4002-10delinsA rs1553333946
NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?) rs575068534
NM_000179.3(MSH6):c.4083GACT[3] (p.Ter1361=) rs765313977
NM_000179.3(MSH6):c.41C>T (p.Ser14Phe) rs863224628
NM_000179.3(MSH6):c.457+32TG[12] rs397839804
NM_000179.3(MSH6):c.535G>T (p.Ala179Ser) rs587781817
NM_000179.3(MSH6):c.55del (p.Asp19fs) rs1553408127
NM_000179.3(MSH6):c.677A>G (p.Glu226Gly) rs587781777
NM_000179.3(MSH6):c.682G>A (p.Glu228Lys) rs587779947
NM_000179.3(MSH6):c.698C>G (p.Pro233Arg) rs142949377
NM_000179.3(MSH6):c.741dup (p.Arg248fs) rs267608041
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu) rs267608079
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr) rs587781510
NM_000179.3(MSH6):c.908dup (p.Met303fs) rs1057517551
NM_000249.3(MLH1):c.-107C>G rs587778886
NM_000249.4(MLH1):c.-27C>A rs587779001
NM_000249.4(MLH1):c.1010C>G (p.Ser337Cys) rs763847201
NM_000249.4(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.4(MLH1):c.1039-4A>G rs368618417
NM_000249.4(MLH1):c.1088CAA[1] (p.Thr364del) rs876660192
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg) rs766904735
NM_000249.4(MLH1):c.1122T>G (p.Ser374Arg) rs759868546
NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys) rs143009528
NM_000249.4(MLH1):c.1210C>T (p.Leu404=) rs1057517538
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.4(MLH1):c.1246A>T (p.Lys416Ter) rs267607823
NM_000249.4(MLH1):c.125C>T (p.Ala42Val) rs587778901
NM_000249.4(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys) rs370687064
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter) rs63750443
NM_000249.4(MLH1):c.1378G>T (p.Glu460Ter) rs756843954
NM_000249.4(MLH1):c.1409+1_1409+6del rs1057517617
NM_000249.4(MLH1):c.1410-8C>T rs1057521668
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg) rs63750226
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1502T>G (p.Ile501Ser) rs587780679
NM_000249.4(MLH1):c.1559-11T>C rs730881750
NM_000249.4(MLH1):c.1559-2A>G rs267607836
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile) rs587779953
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe) rs786202693
NM_000249.4(MLH1):c.1731+1G>T rs267607853
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1853A>G (p.Lys618Arg) rs63750449
NM_000249.4(MLH1):c.1853A>T (p.Lys618Met) rs63750449
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000249.4(MLH1):c.18G>A (p.Gly6=) rs786202312
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2040C>T (p.Cys680=) rs63749867
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2051A>G (p.Tyr684Cys) rs267607886
NM_000249.4(MLH1):c.2088C>G (p.Thr696=) rs1060504015
NM_000249.4(MLH1):c.2104-22T>C rs267607890
NM_000249.4(MLH1):c.2173C>G (p.Arg725Gly) rs138584384
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.283del (p.Ser95fs) rs1064795441
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys) rs773647920
NM_000249.4(MLH1):c.307-10T>C rs572853043
NM_000249.4(MLH1):c.325del (p.His109fs) rs1553641273
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) rs587779008
NM_000249.4(MLH1):c.415C>G (p.Pro139Ala) rs779562531
NM_000249.4(MLH1):c.453+1G>T rs267607750
NM_000249.4(MLH1):c.454-1G>C rs193922370
NM_000249.4(MLH1):c.589-24T>C rs1057517607
NM_000249.4(MLH1):c.589-2A>G rs267607767
NM_000249.4(MLH1):c.589-6T>G rs781244266
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.677+1G>A rs267607778
NM_000249.4(MLH1):c.677+7C>T rs556224377
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp) rs63750555
NM_000249.4(MLH1):c.705T>C (p.Asp235=) rs876658869
NM_000249.4(MLH1):c.779T>A (p.Leu260His) rs63751283
NM_000249.4(MLH1):c.790+17dup rs757064565
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.80G>C (p.Arg27Pro) rs138705565
NM_000249.4(MLH1):c.84del (p.Ala29fs) rs587779045
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser) rs63750656
NM_000249.4(MLH1):c.884+3A>G rs267607803
NM_000249.4(MLH1):c.885-8C>T rs762836160
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994
NM_000249.4(MLH1):c.927C>T (p.Pro309=) rs63749896
NM_000251.2(MSH2):c.-81dup rs587779187
NM_000251.3(MSH2):c.1006C>T (p.Pro336Ser) rs63751062
NM_000251.3(MSH2):c.1013G>C (p.Gly338Ala) rs587779065
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg) rs773177076
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.3(MSH2):c.1076+23C>G rs377417056
NM_000251.3(MSH2):c.108T>C (p.Leu36=) rs876659034
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1203dup (p.Gln402fs) rs63750586
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.3(MSH2):c.1271A>G (p.His424Arg) rs200429136
NM_000251.3(MSH2):c.1276+10G>A rs374061707
NM_000251.3(MSH2):c.1276+2T>C rs267607953
NM_000251.3(MSH2):c.1313C>T (p.Thr438Ile) rs1553361185
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del) rs587779082
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.3(MSH2):c.1465G>A (p.Glu489Lys) rs876658187
NM_000251.3(MSH2):c.149C>G (p.Ala50Gly) rs876658582
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile) rs373564353
NM_000251.3(MSH2):c.1601G>T (p.Arg534Leu) rs587778523
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser) rs749212640
NM_000251.3(MSH2):c.1661+17T>G rs377461923
NM_000251.3(MSH2):c.1661+25del rs1553366691
NM_000251.3(MSH2):c.1662-18T>C rs376235435
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly) rs786201077
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile) rs201118107
NM_000251.3(MSH2):c.1759+16C>G rs1057517573
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.1817T>C (p.Val606Ala) rs376044376
NM_000251.3(MSH2):c.1828C>A (p.His610Asn) rs267607980
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro) rs587779113
NM_000251.3(MSH2):c.1884A>T (p.Gly628=) rs786202663
NM_000251.3(MSH2):c.1A>C (p.Met1Leu) rs267607911
NM_000251.3(MSH2):c.2005+8dup rs267607992
NM_000251.3(MSH2):c.200T>A (p.Met67Lys) rs876660001
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2139G>T (p.Gly713=) rs63750003
NM_000251.3(MSH2):c.2164G>T (p.Val722Phe) rs587781996
NM_000251.3(MSH2):c.2210+11_2210+22del rs730881782
NM_000251.3(MSH2):c.2293G>A (p.Ala765Thr) rs63750368
NM_000251.3(MSH2):c.2334C>A (p.Cys778Ter) rs63750618
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser) rs587782891
NM_000251.3(MSH2):c.2458+12T>C rs1553369841
NM_000251.3(MSH2):c.2459G>A (p.Gly820Asp) rs794729229
NM_000251.3(MSH2):c.2525_2526del (p.Glu842fs) rs587779148
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu) rs63750571
NM_000251.3(MSH2):c.2567A>G (p.Tyr856Cys) rs587779150
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg) rs587780686
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile) rs34319539
NM_000251.3(MSH2):c.2790A>G (p.Ile930Met) rs587779155
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.3(MSH2):c.308A>G (p.Tyr103Cys) rs63751173
NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter) rs1553350250
NM_000251.3(MSH2):c.366+25C>T rs764158568
NM_000251.3(MSH2):c.376G>C (p.Gly126Arg) rs767371843
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg) rs730881768
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe) rs193096019
NM_000251.3(MSH2):c.433A>G (p.Ile145Val) rs876659264
NM_000251.3(MSH2):c.470G>C (p.Gly157Ala) rs765489269
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.3(MSH2):c.507A>G (p.Ile169Met) rs748762580
NM_000251.3(MSH2):c.606C>T (p.Pro202=) rs63750600
NM_000251.3(MSH2):c.672C>G (p.Ile224Met) rs587779171
NM_000251.3(MSH2):c.6G>T (p.Ala2=) rs368270856
NM_000251.3(MSH2):c.715C>T (p.Gln239Ter) rs63750488
NM_000251.3(MSH2):c.806C>A (p.Ser269Ter) rs63750058
NM_000251.3(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000251.3(MSH2):c.845A>G (p.Asp282Gly) rs587779978
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu) rs757892928
NM_000251.3(MSH2):c.905T>A (p.Leu302Ter) rs63749914
NM_000251.3(MSH2):c.943-2A>G rs587779198
NM_000251.3(MSH2):c.965G>T (p.Gly322Val) rs4987188
NM_000251.3(MSH2):c.968C>T (p.Ser323Phe) rs63750732
NM_000251.3(MSH2):c.982G>A (p.Ala328Thr) rs753237286
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000535.5(PMS2):c.-101A>G rs587779325
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp) rs150515238
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.1344A>G (p.Gly448=) rs759192470
NM_000535.7(PMS2):c.164-1G>C rs763308607
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.1732C>T (p.Arg578Cys) rs63750534
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000535.7(PMS2):c.2089A>G (p.Ile697Val) rs1554295859
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg) rs587782559
NM_000535.7(PMS2):c.2175-11G>T rs538914402
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe) rs758225108
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs) rs267608173
NM_000535.7(PMS2):c.2276-2A>C rs1554294019
NM_000535.7(PMS2):c.23+6C>T rs779104357
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser) rs773393960
NM_000535.7(PMS2):c.2389A>T (p.Met797Leu) rs1433888137
NM_000535.7(PMS2):c.2392T>C (p.Cys798Arg) rs1554293839
NM_000535.7(PMS2):c.240C>A (p.Phe80Leu) rs143162541
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.2464C>G (p.Leu822Val) rs1554292873
NM_000535.7(PMS2):c.2471C>A (p.Thr824Lys) rs1354323014
NM_000535.7(PMS2):c.2519C>T (p.Pro840Leu) rs1554292787
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs) rs1554304745
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr) rs587781913
NM_000535.7(PMS2):c.378C>G (p.His126Gln) rs768488890
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu) rs587780060
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.7(PMS2):c.697C>G (p.Gln233Glu) rs587779343
NM_000535.7(PMS2):c.706-4dup rs60794673
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu) rs587780061
NM_000535.7(PMS2):c.787C>G (p.Leu263Val) rs587779345
NM_000535.7(PMS2):c.789G>A (p.Leu263=) rs755394319
NM_000535.7(PMS2):c.804-12A>G rs1221537446
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.862_863del (p.Gln288fs) rs63750246
NM_000535.7(PMS2):c.903+20_903+21del rs746861817
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_001354629.2(MLH1):c.208-3445_208-3433del rs1057517543

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