ClinVar Miner

List of variants studied for Lynch syndrome by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1001
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HGVS dbSNP gnomAD frequency
NM_001023.4(RPS20):c.-6A>G rs1128142 0.09443
NM_001040108.2(MLH3):c.2159A>G (p.Tyr720Cys) rs28756988 0.02978
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe) rs28756990 0.02049
NM_001040108.2(MLH3):c.666G>A (p.Lys222=) rs28756980 0.01977
NM_001040108.2(MLH3):c.444G>C (p.Val148=) rs11556091 0.01944
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_000534.5(PMS1):c.1181T>C (p.Met394Thr) rs1145231 0.01309
NM_000534.5(PMS1):c.1501G>A (p.Gly501Arg) rs1145232 0.01304
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln) rs28756981 0.01278
NM_001040108.2(MLH3):c.2825C>T (p.Thr942Ile) rs17102999 0.01049
NM_001040108.2(MLH3):c.8A>G (p.Lys3Arg) rs114829239 0.00849
NM_000179.3(MSH6):c.*85T>A rs2020906 0.00645
NM_001040108.2(MLH3):c.408T>C (p.Asp136=) rs61755655 0.00552
NM_000534.5(PMS1):c.1643A>G (p.Lys548Arg) rs61736576 0.00477
NM_001040108.2(MLH3):c.3987+15C>T rs117251698 0.00472
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00333
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_001040108.2(MLH3):c.3987+7C>A rs28757028 0.00219
NM_001040108.2(MLH3):c.3644-13C>T rs189760727 0.00199
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.735C>T (p.Tyr245=) rs111782152 0.00162
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_001040108.2(MLH3):c.2167G>A (p.Val723Ile) rs28756989 0.00153
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00152
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766 0.00142
NM_001146227.3(RPS20):c.*14C>T rs78022071 0.00137
NM_001040108.2(MLH3):c.3488G>A (p.Gly1163Asp) rs28757011 0.00119
NM_001040108.2(MLH3):c.359T>C (p.Phe120Ser) rs28756979 0.00113
NM_001040108.2(MLH3):c.3746C>T (p.Ser1249Phe) rs139265757 0.00103
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys) rs28939071 0.00103
NM_000179.3(MSH6):c.3172+20T>C rs3136335 0.00100
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00100
NM_000251.3(MSH2):c.819A>G (p.Val273=) rs146577635 0.00094
NM_001040108.2(MLH3):c.423C>T (p.Ser141=) rs142179277 0.00092
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687 0.00082
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_001040108.2(MLH3):c.-3A>G rs146166860 0.00059
NM_000534.5(PMS1):c.224C>T (p.Thr75Ile) rs61756360 0.00058
NM_001040108.2(MLH3):c.2043T>C (p.Tyr681=) rs143573376 0.00056
NM_001040108.2(MLH3):c.1637G>T (p.Arg546Ile) rs55725216 0.00048
NM_000179.3(MSH6):c.491A>C (p.His164Pro) rs146469162 0.00045
NM_001040108.2(MLH3):c.837C>T (p.Cys279=) rs149962294 0.00039
NM_001040108.2(MLH3):c.3344G>A (p.Arg1115Gln) rs78311619 0.00038
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile) rs142124529 0.00035
NM_001040108.2(MLH3):c.4011+15T>G rs139032600 0.00033
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00032
NM_001040108.2(MLH3):c.2180G>A (p.Ser727Asn) rs116526686 0.00029
NM_001040108.2(MLH3):c.1168T>A (p.Phe390Ile) rs61752721 0.00028
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00020
NM_000534.5(PMS1):c.2755C>T (p.Arg919Cys) rs145103030 0.00020
NM_000535.7(PMS2):c.779C>T (p.Ser260Phe) rs777286241 0.00020
NM_000179.3(MSH6):c.4001+11_4001+15dup rs587779302 0.00019
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser) rs267608026 0.00019
NM_001040108.2(MLH3):c.2547T>C (p.Ser849=) rs183078420 0.00018
NM_001040108.2(MLH3):c.3137G>A (p.Arg1046Gln) rs201303087 0.00018
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn) rs201541505 0.00017
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722 0.00016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016 0.00016
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr) rs377403073 0.00014
NM_001040108.2(MLH3):c.3637G>A (p.Glu1213Lys) rs140899869 0.00014
NM_001040108.2(MLH3):c.914T>C (p.Ile305Thr) rs150796590 0.00014
NM_000251.3(MSH2):c.-3G>C rs587779960 0.00013
NM_000535.7(PMS2):c.1864A>G (p.Met622Val) rs370853512 0.00013
NM_000535.7(PMS2):c.240C>T (p.Phe80=) rs143162541 0.00013
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys) rs587782651 0.00012
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys) rs376042544 0.00012
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00012
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796 0.00012
NM_000535.7(PMS2):c.1533G>A (p.Thr511=) rs542520309 0.00011
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023 0.00011
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364 0.00011
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys) rs542838372 0.00010
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00010
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082 0.00010
NM_001040108.2(MLH3):c.2638C>G (p.Leu880Val) rs201453923 0.00010
NM_000179.3(MSH6):c.3024C>T (p.Thr1008=) rs587780675 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00009
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly) rs199876321 0.00008
NM_000179.3(MSH6):c.3264C>T (p.Phe1088=) rs35621414 0.00008
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser) rs375853155 0.00008
NM_000251.3(MSH2):c.2500G>A (p.Ala834Thr) rs63750757 0.00008
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr) rs63751454 0.00008
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748 0.00008
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215 0.00008
NM_001040108.2(MLH3):c.2356G>A (p.Val786Ile) rs372089146 0.00008
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787 0.00007
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr) rs202127474 0.00007
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00007
NM_000249.4(MLH1):c.69A>G (p.Glu23=) rs63750555 0.00007
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939 0.00007
NM_000535.7(PMS2):c.2175-13T>C rs748722013 0.00007
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_001040108.2(MLH3):c.3101C>G (p.Thr1034Ser) rs557921152 0.00007
NM_001040108.2(MLH3):c.330G>A (p.Ser110=) rs189749330 0.00007
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser) rs61753793 0.00006
NM_000179.3(MSH6):c.178T>C (p.Leu60=) rs35819209 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.831A>C (p.Glu277Asp) rs374486449 0.00006
NM_000249.4(MLH1):c.1908G>A (p.Leu636=) rs1800145 0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro) rs587779086 0.00006
NM_000251.3(MSH2):c.2503A>C (p.Asn835His) rs41295296 0.00006
NM_000535.7(PMS2):c.1500C>T (p.Ser500=) rs116094787 0.00006
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln) rs587781909 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_001040108.2(MLH3):c.3312C>T (p.Ser1104=) rs149369905 0.00006
NM_001040108.2(MLH3):c.3716-4A>G rs777308221 0.00006
NM_000179.3(MSH6):c.2239C>T (p.Leu747=) rs63751305 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.2211-6C>A rs267608003 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_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383 0.00005
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399 0.00005
NM_001040108.2(MLH3):c.2964C>G (p.Ile988Met) rs201936675 0.00005
NM_001040108.2(MLH3):c.3539G>A (p.Arg1180His) rs377022215 0.00005
NM_001040108.2(MLH3):c.873T>G (p.Asn291Lys) rs767413852 0.00005
NM_002354.3(EPCAM):c.232C>G (p.Leu78Val) rs587780763 0.00005
NM_000179.3(MSH6):c.1974G>A (p.Val658=) rs372916347 0.00004
NM_000179.3(MSH6):c.2017C>G (p.Pro673Ala) rs377356882 0.00004
NM_000179.3(MSH6):c.242C>T (p.Ala81Val) rs587779924 0.00004
NM_000179.3(MSH6):c.2850C>T (p.Ser950=) rs571394629 0.00004
NM_000179.3(MSH6):c.749T>C (p.Val250Ala) rs587781275 0.00004
NM_000249.4(MLH1):c.1269G>A (p.Arg423=) rs373076967 0.00004
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr) rs377433038 0.00004
NM_000249.4(MLH1):c.1284T>C (p.Asp428=) rs772555970 0.00004
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr) rs63751145 0.00004
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala) rs267607840 0.00004
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe) rs730881777 0.00004
NM_000251.3(MSH2):c.183G>T (p.Gln61His) rs751082926 0.00004
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg) rs587779973 0.00004
NM_000535.7(PMS2):c.*17G>C rs556089649 0.00004
NM_000535.7(PMS2):c.12T>G (p.Ala4=) rs776136427 0.00004
NM_000535.7(PMS2):c.1489G>A (p.Gly497Ser) rs749826312 0.00004
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433 0.00004
NM_000535.7(PMS2):c.166C>G (p.Leu56Val) rs371011390 0.00004
NM_000535.7(PMS2):c.1806C>G (p.Ala602=) rs376046767 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.487T>C (p.Phe163Leu) rs587780060 0.00004
NM_000535.7(PMS2):c.705+12C>T rs368486366 0.00004
NM_001040108.2(MLH3):c.1940G>A (p.Arg647His) rs61755653 0.00004
NM_001040108.2(MLH3):c.2752G>T (p.Asp918Tyr) rs762167939 0.00004
NM_001040108.2(MLH3):c.3280+10T>C rs755892150 0.00004
NM_001040108.2(MLH3):c.3406G>A (p.Glu1136Lys) rs113490514 0.00004
NM_001040108.2(MLH3):c.4032C>T (p.Gly1344=) rs565238806 0.00004
NM_000179.3(MSH6):c.-2G>T rs374748889 0.00003
NM_000179.3(MSH6):c.1043C>T (p.Ser348Phe) rs758432113 0.00003
NM_000179.3(MSH6):c.1053C>T (p.His351=) rs28903083 0.00003
NM_000179.3(MSH6):c.1167C>T (p.Pro389=) rs1042819 0.00003
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu) rs41295270 0.00003
NM_000179.3(MSH6):c.1822A>G (p.Ile608Val) rs201613780 0.00003
NM_000179.3(MSH6):c.1917G>A (p.Glu639=) rs368059229 0.00003
NM_000179.3(MSH6):c.2156C>T (p.Thr719Ile) rs373418713 0.00003
NM_000179.3(MSH6):c.240A>G (p.Val80=) rs864622281 0.00003
NM_000179.3(MSH6):c.2818G>T (p.Ala940Ser) rs772978164 0.00003
NM_000179.3(MSH6):c.2904C>G (p.Val968=) rs150683226 0.00003
NM_000179.3(MSH6):c.3197A>G (p.Tyr1066Cys) rs372103816 0.00003
NM_000179.3(MSH6):c.3384T>C (p.Tyr1128=) rs544518097 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.3703C>G (p.Leu1235Val) rs876661084 0.00003
NM_000179.3(MSH6):c.393A>C (p.Val131=) rs752488540 0.00003
NM_000179.3(MSH6):c.3979A>T (p.Asn1327Tyr) rs756216566 0.00003
NM_000249.4(MLH1):c.1743G>A (p.Pro581=) rs567838745 0.00003
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00003
NM_000249.4(MLH1):c.9C>G (p.Phe3Leu) rs779759678 0.00003
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln) rs56170584 0.00003
NM_000251.3(MSH2):c.1601G>A (p.Arg534His) rs587778523 0.00003
NM_000251.3(MSH2):c.1617T>C (p.Phe539=) rs730881759 0.00003
NM_000251.3(MSH2):c.1837A>C (p.Asn613His) rs200147804 0.00003
NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr) rs747700106 0.00003
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys) rs587779969 0.00003
NM_000251.3(MSH2):c.336C>A (p.Ser112=) rs34312619 0.00003
NM_000251.3(MSH2):c.594A>G (p.Glu198=) rs369685768 0.00003
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057 0.00003
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg) rs146848345 0.00003
NM_000535.7(PMS2):c.1616C>T (p.Ala539Val) rs138222146 0.00003
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys) rs587780045 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp) rs573374779 0.00003
NM_000535.7(PMS2):c.751G>A (p.Val251Met) rs142434011 0.00003
NM_000535.7(PMS2):c.903+4T>A rs753803330 0.00003
NM_001040108.2(MLH3):c.1017C>T (p.Cys339=) rs368126670 0.00003
NM_001040108.2(MLH3):c.1156G>A (p.Glu386Lys) rs142081869 0.00003
NM_001040108.2(MLH3):c.1619A>G (p.Asn540Ser) rs768855148 0.00003
NM_001040108.2(MLH3):c.2362C>A (p.Pro788Thr) rs758319075 0.00003
NM_001040108.2(MLH3):c.3103G>A (p.Glu1035Lys) rs143865811 0.00003
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125 0.00003
NM_000179.3(MSH6):c.1501C>T (p.His501Tyr) rs779411998 0.00002
NM_000179.3(MSH6):c.2006T>C (p.Ile669Thr) rs555209664 0.00002
NM_000179.3(MSH6):c.204G>A (p.Lys68=) rs864622565 0.00002
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys) rs587779923 0.00002
NM_000179.3(MSH6):c.25A>G (p.Ser9Gly) rs41294986 0.00002
NM_000179.3(MSH6):c.2830A>G (p.Ile944Val) rs878853723 0.00002
NM_000179.3(MSH6):c.2950A>C (p.Asn984His) rs146359682 0.00002
NM_000179.3(MSH6):c.321T>C (p.Pro107=) rs730881823 0.00002
NM_000179.3(MSH6):c.3300G>A (p.Thr1100=) rs540252208 0.00002
NM_000179.3(MSH6):c.3420G>A (p.Lys1140=) rs754435507 0.00002
NM_000179.3(MSH6):c.3698A>C (p.Lys1233Thr) rs766557450 0.00002
NM_000179.3(MSH6):c.3801+4T>C rs758830540 0.00002
NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr) rs587782109 0.00002
NM_000179.3(MSH6):c.3979A>C (p.Asn1327His) rs756216566 0.00002
NM_000179.3(MSH6):c.899G>A (p.Arg300Gln) rs55760494 0.00002
NM_000179.3(MSH6):c.957G>C (p.Thr319=) rs375210430 0.00002
NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn) rs373767220 0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_000249.4(MLH1):c.479C>T (p.Ala160Val) rs63749924 0.00002
NM_000249.4(MLH1):c.790C>T (p.His264Tyr) rs63751597 0.00002
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln) rs63750268 0.00002
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu) rs374135434 0.00002
NM_000251.3(MSH2):c.1401A>G (p.Glu467=) rs1558508085 0.00002
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys) rs63750328 0.00002
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu) rs41294982 0.00002
NM_000251.3(MSH2):c.2061C>G (p.Leu687=) rs63750032 0.00002
NM_000251.3(MSH2):c.220A>C (p.Asn74His) rs150548839 0.00002
NM_000251.3(MSH2):c.2459-9T>C rs776644342 0.00002
NM_000251.3(MSH2):c.2621A>G (p.Tyr874Cys) rs775390721 0.00002
NM_000251.3(MSH2):c.581T>C (p.Ile194Thr) rs730881778 0.00002
NM_000251.3(MSH2):c.894G>C (p.Gln298His) rs587781397 0.00002
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 0.00002
NM_000535.7(PMS2):c.1344A>T (p.Gly448=) rs759192470 0.00002
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451 0.00002
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser) rs767775907 0.00002
NM_000535.7(PMS2):c.964G>A (p.Val322Ile) rs587782208 0.00002
NM_001040108.2(MLH3):c.867A>G (p.Gln289=) rs773294144 0.00002
NM_000179.3(MSH6):c.*11T>C rs757708396 0.00001
NM_000179.3(MSH6):c.1078A>G (p.Ser360Gly) rs145994565 0.00001
NM_000179.3(MSH6):c.1090G>A (p.Val364Ile) rs1437629945 0.00001
NM_000179.3(MSH6):c.1153A>C (p.Arg385=) rs781652274 0.00001
NM_000179.3(MSH6):c.1189T>C (p.Tyr397His) rs587779913 0.00001
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065 0.00001
NM_000179.3(MSH6):c.1273A>G (p.Ile425Val) rs63749971 0.00001
NM_000179.3(MSH6):c.131C>T (p.Pro44Leu) rs863224615 0.00001
NM_000179.3(MSH6):c.1339C>T (p.Leu447=) rs369709529 0.00001
NM_000179.3(MSH6):c.133G>C (p.Gly45Arg) rs978968846 0.00001
NM_000179.3(MSH6):c.1347G>A (p.Leu449=) rs786201760 0.00001
NM_000179.3(MSH6):c.1403G>A (p.Arg468His) rs41295268 0.00001
NM_000179.3(MSH6):c.148T>C (p.Trp50Arg) rs374597395 0.00001
NM_000179.3(MSH6):c.14G>C (p.Ser5Thr) rs532585602 0.00001
NM_000179.3(MSH6):c.1554C>T (p.Thr518=) rs786201471 0.00001
NM_000179.3(MSH6):c.1661G>A (p.Arg554His) rs730881791 0.00001
NM_000179.3(MSH6):c.1668T>C (p.Tyr556=) rs730882130 0.00001
NM_000179.3(MSH6):c.1677C>T (p.Cys559=) rs63749893 0.00001
NM_000179.3(MSH6):c.1698A>C (p.Gly566=) rs764818222 0.00001
NM_000179.3(MSH6):c.1900T>C (p.Leu634=) rs876658471 0.00001
NM_000179.3(MSH6):c.194C>T (p.Ser65Leu) rs41294984 0.00001
NM_000179.3(MSH6):c.1983T>C (p.Gly661=) rs1411415960 0.00001
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg) rs143643688 0.00001
NM_000179.3(MSH6):c.208A>G (p.Lys70Glu) rs863224621 0.00001
NM_000179.3(MSH6):c.2107A>G (p.Met703Val) rs751867550 0.00001
NM_000179.3(MSH6):c.2141C>G (p.Ser714Cys) rs730881796 0.00001
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter) rs63751127 0.00001
NM_000179.3(MSH6):c.2223C>T (p.Asn741=) rs769668640 0.00001
NM_000179.3(MSH6):c.2295C>T (p.Cys765=) rs63750985 0.00001
NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser) rs587781462 0.00001
NM_000179.3(MSH6):c.2409C>G (p.Asp803Glu) rs1434270332 0.00001
NM_000179.3(MSH6):c.2436A>G (p.Leu812=) rs897288945 0.00001
NM_000179.3(MSH6):c.2525C>G (p.Ala842Gly) rs876660180 0.00001
NM_000179.3(MSH6):c.2630A>G (p.Glu877Gly) rs1060502873 0.00001
NM_000179.3(MSH6):c.2702G>A (p.Arg901His) rs63749889 0.00001
NM_000179.3(MSH6):c.2775A>G (p.Gly925=) rs587779248 0.00001
NM_000179.3(MSH6):c.2781T>G (p.Ile927Met) rs771575217 0.00001
NM_000179.3(MSH6):c.2825C>T (p.Ala942Val) rs760406178 0.00001
NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr) rs143520357 0.00001
NM_000179.3(MSH6):c.2910G>C (p.Trp970Cys) rs765411990 0.00001
NM_000179.3(MSH6):c.2949G>C (p.Glu983Asp) rs780485157 0.00001
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala) rs746631156 0.00001
NM_000179.3(MSH6):c.2962C>T (p.Arg988Cys) rs61753795 0.00001
NM_000179.3(MSH6):c.2992T>A (p.Ser998Thr) rs730881800 0.00001
NM_000179.3(MSH6):c.3062C>G (p.Ala1021Gly) rs63750287 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.3256C>T (p.Pro1086Ser) rs756108143 0.00001
NM_000179.3(MSH6):c.3313G>A (p.Gly1105Arg) rs755716475 0.00001
NM_000179.3(MSH6):c.333C>T (p.Tyr111=) rs786202772 0.00001
NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly) rs587782625 0.00001
NM_000179.3(MSH6):c.3560A>G (p.Glu1187Gly) rs150632241 0.00001
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr) rs587779273 0.00001
NM_000179.3(MSH6):c.3607C>A (p.His1203Asn) rs876660882 0.00001
NM_000179.3(MSH6):c.3619C>G (p.His1207Asp) rs760391254 0.00001
NM_000179.3(MSH6):c.3647-7T>G rs780269667 0.00001
NM_000179.3(MSH6):c.3675G>A (p.Thr1225=) rs730881820 0.00001
NM_000179.3(MSH6):c.3685A>C (p.Asn1229His) rs774249402 0.00001
NM_000179.3(MSH6):c.3742C>T (p.His1248Tyr) rs63750882 0.00001
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser) rs780187989 0.00001
NM_000179.3(MSH6):c.4002-4T>C rs370428032 0.00001
NM_000179.3(MSH6):c.4043A>C (p.Glu1348Ala) rs1449733937 0.00001
NM_000179.3(MSH6):c.412C>T (p.Pro138Ser) rs1668700091 0.00001
NM_000179.3(MSH6):c.435A>C (p.Lys145Asn) rs1321666742 0.00001
NM_000179.3(MSH6):c.440T>G (p.Leu147Arg) rs63750525 0.00001
NM_000179.3(MSH6):c.487G>A (p.Gly163Ser) rs776065389 0.00001
NM_000179.3(MSH6):c.596C>T (p.Pro199Leu) rs587782315 0.00001
NM_000179.3(MSH6):c.609A>G (p.Glu203=) rs536686679 0.00001
NM_000179.3(MSH6):c.682G>A (p.Glu228Lys) rs587779947 0.00001
NM_000179.3(MSH6):c.854G>T (p.Ser285Ile) rs63750878 0.00001
NM_000179.3(MSH6):c.87C>G (p.Arg29=) rs778354962 0.00001
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935 0.00001
NM_000179.3(MSH6):c.910G>A (p.Val304Met) rs876661207 0.00001
NM_000179.3(MSH6):c.947G>A (p.Arg316Lys) rs562487553 0.00001
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile) rs587781983 0.00001
NM_000249.4(MLH1):c.1038+9G>A rs267607817 0.00001
NM_000249.4(MLH1):c.1039-5T>C rs587782626 0.00001
NM_000249.4(MLH1):c.1090A>G (p.Thr364Ala) rs63749864 0.00001
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg) rs766904735 0.00001
NM_000249.4(MLH1):c.116+14C>G rs773103242 0.00001
NM_000249.4(MLH1):c.1207C>T (p.Pro403Ser) rs587778897 0.00001
NM_000249.4(MLH1):c.1277A>T (p.Gln426Leu) rs876659252 0.00001
NM_000249.4(MLH1):c.1282G>A (p.Asp428Asn) rs989382971 0.00001
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp) rs587779952 0.00001
NM_000249.4(MLH1):c.1348G>T (p.Asp450Tyr) rs752622244 0.00001
NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn) rs756099600 0.00001
NM_000249.4(MLH1):c.1521G>C (p.Leu507Phe) rs863224633 0.00001
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe) rs786202693 0.00001
NM_000249.4(MLH1):c.1693A>T (p.Ile565Phe) rs63750062 0.00001
NM_000249.4(MLH1):c.1698T>C (p.Tyr566=) rs876658915 0.00001
NM_000249.4(MLH1):c.1770A>C (p.Leu590Phe) rs769239969 0.00001
NM_000249.4(MLH1):c.2135G>T (p.Trp712Leu) rs63750561 0.00001
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter) rs63751221 0.00001
NM_000249.4(MLH1):c.306+4A>G rs267607733 0.00001
NM_000249.4(MLH1):c.319A>G (p.Ile107Val) rs572906317 0.00001
NM_000249.4(MLH1):c.351G>A (p.Thr117=) rs61751643 0.00001
NM_000249.4(MLH1):c.462C>T (p.Asp154=) rs192938577 0.00001
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu) rs587779029 0.00001
NM_000249.4(MLH1):c.636C>T (p.Thr212=) rs138735345 0.00001
NM_000249.4(MLH1):c.739T>G (p.Ser247Ala) rs63750948 0.00001
NM_000249.4(MLH1):c.918T>C (p.Asn306=) rs587779054 0.00001
NM_000249.4(MLH1):c.963_1014dup (p.Ser339fs) rs1553648058 0.00001
NM_000249.4(MLH1):c.978G>A (p.Val326=) rs1553648104 0.00001
NM_000251.3(MSH2):c.-78T>A rs876658616 0.00001
NM_000251.3(MSH2):c.1221C>G (p.Leu407=) rs63750813 0.00001
NM_000251.3(MSH2):c.1270C>T (p.His424Tyr) rs587782278 0.00001
NM_000251.3(MSH2):c.1485A>G (p.Thr495=) rs767039383 0.00001
NM_000251.3(MSH2):c.1597C>G (p.Leu533Val) rs786202987 0.00001
NM_000251.3(MSH2):c.159C>T (p.Ala53=) rs780178752 0.00001
NM_000251.3(MSH2):c.1619G>C (p.Ser540Thr) rs1553366622 0.00001
NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr) rs864622093 0.00001
NM_000251.3(MSH2):c.1907C>T (p.Ala636Val) rs63750279 0.00001
NM_000251.3(MSH2):c.2082T>C (p.Phe694=) rs748210094 0.00001
NM_000251.3(MSH2):c.2224G>A (p.Asp742Asn) rs879254183 0.00001
NM_000251.3(MSH2):c.2248T>C (p.Leu750=) rs527725593 0.00001
NM_000251.3(MSH2):c.2439G>A (p.Met813Ile) rs587781678 0.00001
NM_000251.3(MSH2):c.2525A>T (p.Glu842Val) rs373393954 0.00001
NM_000251.3(MSH2):c.2542G>T (p.Ala848Ser) rs746972142 0.00001
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu) rs63750849 0.00001
NM_000251.3(MSH2):c.2649T>G (p.Ile883Met) rs768983827 0.00001
NM_000251.3(MSH2):c.364A>G (p.Lys122Glu) rs374127044 0.00001
NM_000251.3(MSH2):c.439G>A (p.Val147Ile) rs773125415 0.00001
NM_000251.3(MSH2):c.45C>T (p.Ala15=) rs876659170 0.00001
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly) rs141021599 0.00001
NM_000251.3(MSH2):c.668T>C (p.Leu223Pro) rs1060501992 0.00001
NM_000251.3(MSH2):c.701C>T (p.Thr234Ile) rs730881773 0.00001
NM_000251.3(MSH2):c.70C>G (p.Gln24Glu) rs587779976 0.00001
NM_000251.3(MSH2):c.893A>G (p.Gln298Arg) rs267607998 0.00001
NM_000251.3(MSH2):c.933C>A (p.Asn311Lys) rs1060504424 0.00001
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser) rs779673318 0.00001
NM_000251.3(MSH2):c.996G>A (p.Lys332=) rs863224343 0.00001
NM_000534.5(PMS1):c.1241G>A (p.Gly414Asp) rs745523368 0.00001
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248 0.00001
NM_000535.7(PMS2):c.114G>A (p.Ala38=) rs558032755 0.00001
NM_000535.7(PMS2):c.1262G>A (p.Arg421Gln) rs778482303 0.00001
NM_000535.7(PMS2):c.1305C>T (p.His435=) rs763954903 0.00001
NM_000535.7(PMS2):c.1329A>T (p.Arg443Ser) rs192720342 0.00001
NM_000535.7(PMS2):c.1384A>G (p.Ile462Val) rs200116037 0.00001
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser) rs373114291 0.00001
NM_000535.7(PMS2):c.1455G>A (p.Thr485=) rs752665758 0.00001
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val) rs587779328 0.00001
NM_000535.7(PMS2):c.1551C>A (p.Ser517Arg) rs587782479 0.00001
NM_000535.7(PMS2):c.1674C>T (p.Thr558=) rs876658134 0.00001
NM_000535.7(PMS2):c.1682A>C (p.Lys561Thr) rs876658481 0.00001
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947 0.00001
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304 0.00001
NM_000535.7(PMS2):c.1765G>C (p.Asp589His) rs749727182 0.00001
NM_000535.7(PMS2):c.1819G>A (p.Val607Ile) rs786204109 0.00001
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys) rs886062400 0.00001
NM_000535.7(PMS2):c.1931A>G (p.Asn644Ser) rs267608166 0.00001
NM_000535.7(PMS2):c.2035A>G (p.Ile679Val) rs587780047 0.00001
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr) rs778251286 0.00001
NM_000535.7(PMS2):c.23+9G>A rs1046717239 0.00001
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466 0.00001
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln) rs1060503143 0.00001
NM_000535.7(PMS2):c.244G>A (p.Gly82Ser) rs754191682 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000535.7(PMS2):c.33T>A (p.Pro11=) rs780178572 0.00001
NM_000535.7(PMS2):c.354-5C>G rs200591010 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000535.7(PMS2):c.598G>A (p.Val200Ile) rs587778620 0.00001
NM_000535.7(PMS2):c.615G>T (p.Gln205His) rs752499497 0.00001
NM_000535.7(PMS2):c.630A>G (p.Lys210=) rs765847615 0.00001
NM_000535.7(PMS2):c.737C>G (p.Pro246Arg) rs1562670885 0.00001
NM_000535.7(PMS2):c.750C>T (p.Ser250=) rs200439295 0.00001
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr) rs775445157 0.00001
NM_000535.7(PMS2):c.795T>C (p.Asn265=) rs766667186 0.00001
NM_000535.7(PMS2):c.880C>T (p.Arg294Trp) rs563433235 0.00001
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln) rs373239341 0.00001
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln) rs375507981 0.00001
NM_000535.7(PMS2):c.903+2T>C rs878854059 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_001040108.2(MLH3):c.1002C>T (p.Asp334=) rs764046706 0.00001
NM_001040108.2(MLH3):c.1152C>T (p.Ser384=) rs752741447 0.00001
NM_001040108.2(MLH3):c.1330G>C (p.Glu444Gln) rs760258078 0.00001
NM_001040108.2(MLH3):c.1432G>A (p.Ala478Thr) rs201071230 0.00001
NM_001040108.2(MLH3):c.1618A>T (p.Asn540Tyr) rs774449341 0.00001
NM_001040108.2(MLH3):c.1688A>G (p.Gln563Arg) rs777324118 0.00001
NM_001040108.2(MLH3):c.2905C>T (p.Pro969Ser) rs759555217 0.00001
NM_001040108.2(MLH3):c.3045C>A (p.Asp1015Glu) rs771541032 0.00001
NM_001040108.2(MLH3):c.3410C>T (p.Ser1137Leu) rs781462940 0.00001
NM_001040108.2(MLH3):c.3658G>A (p.Val1220Met) rs560775993 0.00001
NM_001040108.2(MLH3):c.365A>G (p.Lys122Arg) rs762453215 0.00001
NM_001040108.2(MLH3):c.3716-10C>T rs374204567 0.00001
NM_001040108.2(MLH3):c.3880A>G (p.Thr1294Ala) rs1386608856 0.00001
NM_001040108.2(MLH3):c.880C>G (p.Leu294Val) rs372192067 0.00001
NC_000002.11:g.(?_47596646)_(47596720_?)dup
NC_000002.11:g.(?_47612305)_(47613752_?)dup
NC_000002.11:g.(?_47617224)_(47617297_?)del
NC_000002.11:g.(?_47622043)_(47627579_?)dup
NC_000002.11:g.(?_47637234)_(47637512_?)del
NC_000002.11:g.47630331_47643568dup
NC_000002.12:g.(?_47482779)_(47482949_?)del
NC_000002.12:g.107580437_107580438del
NC_000002.12:g.47806204_47806642del
NC_000002.12:g.47806204_47806860del
NC_000003.11:g.(?_37081677)_(37083822_?)del
NC_000003.11:g.37050307_37067500dup
NC_000003.11:g.37061785_37088541delinsTATTTTTC
NC_000003.12:g.48091287_48091298del
NC_000007.13:g.(?_6013030)_(6048650_?)dup
NC_000007.13:g.(?_6042084)_(6048650_?)del
NC_000007.13:g.6013030_6043689del
NM_000179.2(MSH6):c.3439-?_3556+?del
NM_000179.2(MSH6):c.458-?_3556+?del
NM_000179.2(MSH6):c.458-?_627+?del
NM_000179.3(MSH6):c.-5T>C rs1572697690
NM_000179.3(MSH6):c.1028C>G (p.Pro343Arg) rs548898238
NM_000179.3(MSH6):c.103G>C (p.Ala35Pro)
NM_000179.3(MSH6):c.1134_1135del (p.Arg379_Asp380insTer) rs876660549
NM_000179.3(MSH6):c.115G>C (p.Gly39Arg) rs751838296
NM_000179.3(MSH6):c.1190A>C (p.Tyr397Ser) rs63750065
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs) rs63750439
NM_000179.3(MSH6):c.1200G>A (p.Glu400=) rs536884553
NM_000179.3(MSH6):c.120C>T (p.Ala40=) rs777101467
NM_000179.3(MSH6):c.1264G>A (p.Asp422Asn) rs1423874192
NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu) rs863224614
NM_000179.3(MSH6):c.1462A>G (p.Thr488Ala) rs776959327
NM_000179.3(MSH6):c.146C>T (p.Ala49Val) rs775498550
NM_000179.3(MSH6):c.1471ATG[1] (p.Met492del) rs587782576
NM_000179.3(MSH6):c.1475T>C (p.Met492Thr) rs1558661808
NM_000179.3(MSH6):c.1500A>T (p.Ala500=) rs1558661892
NM_000179.3(MSH6):c.1559G>A (p.Gly520Asp) rs1669344619
NM_000179.3(MSH6):c.1574G>A (p.Ser525Asn) rs765387680
NM_000179.3(MSH6):c.1586G>A (p.Gly529Asp) rs786201964
NM_000179.3(MSH6):c.1593C>G (p.Pro531=) rs1259890299
NM_000179.3(MSH6):c.1607G>A (p.Ser536Asn) rs587782352
NM_000179.3(MSH6):c.1669G>A (p.Gly557Ser) rs1553413048
NM_000179.3(MSH6):c.1740G>T (p.Ser580=) rs762089407
NM_000179.3(MSH6):c.1763A>G (p.His588Arg) rs786202725
NM_000179.3(MSH6):c.176C>T (p.Pro59Leu) rs1668129135
NM_000179.3(MSH6):c.1776A>G (p.Val592=) rs56132616
NM_000179.3(MSH6):c.1784del (p.Leu595fs) rs267608050
NM_000179.3(MSH6):c.184C>A (p.Arg62Ser) rs876659508
NM_000179.3(MSH6):c.184C>T (p.Arg62Cys) rs876659508
NM_000179.3(MSH6):c.1865T>C (p.Ile622Thr) rs2104372440
NM_000179.3(MSH6):c.186_187inv (p.Ser63Ala)
NM_000179.3(MSH6):c.1886A>G (p.Asp629Gly) rs2104373880
NM_000179.3(MSH6):c.1898C>G (p.Thr633Ser) rs1553413271
NM_000179.3(MSH6):c.189C>T (p.Ser63=) rs917331457
NM_000179.3(MSH6):c.193T>G (p.Ser65Ala) rs1553408350
NM_000179.3(MSH6):c.1989T>G (p.Thr663=) rs1057520324
NM_000179.3(MSH6):c.1994A>G (p.Glu665Gly) rs786201952
NM_000179.3(MSH6):c.199C>A (p.Pro67Thr) rs878853712
NM_000179.3(MSH6):c.2040C>A (p.Ala680=)
NM_000179.3(MSH6):c.207GAA[3] (p.Lys70dup) rs1553408369
NM_000179.3(MSH6):c.2083C>G (p.Leu695Val) rs1669418611
NM_000179.3(MSH6):c.2146A>G (p.Thr716Ala) rs749711246
NM_000179.3(MSH6):c.2176T>C (p.Phe726Leu) rs876660381
NM_000179.3(MSH6):c.2183A>G (p.Lys728Arg) rs35552856
NM_000179.3(MSH6):c.2191C>G (p.Gln731Glu) rs63751442
NM_000179.3(MSH6):c.2193dup (p.Arg732fs)
NM_000179.3(MSH6):c.2238T>C (p.Phe746=) rs1384756767
NM_000179.3(MSH6):c.2371C>T (p.Arg791Cys) rs749918474
NM_000179.3(MSH6):c.2393T>C (p.Leu798Pro) rs2104404366
NM_000179.3(MSH6):c.248C>G (p.Ala83Gly) rs876661197
NM_000179.3(MSH6):c.2541A>T (p.Glu847Asp) rs1553413887
NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter) rs374230313
NM_000179.3(MSH6):c.255C>A (p.Pro85=) rs587779242
NM_000179.3(MSH6):c.2560A>T (p.Lys854Ter)
NM_000179.3(MSH6):c.2569_2570insT (p.Asp857fs)
NM_000179.3(MSH6):c.258C>A (p.Thr86=) rs1553408461
NM_000179.3(MSH6):c.261-14C>A rs369366445
NM_000179.3(MSH6):c.261-14C>T rs369366445
NM_000179.3(MSH6):c.263G>A (p.Cys88Tyr) rs1060502911
NM_000179.3(MSH6):c.2656A>G (p.Ile886Val) rs2020914
NM_000179.3(MSH6):c.2782A>G (p.Thr928Ala) rs1057519255
NM_000179.3(MSH6):c.27_40delinsTGTG (p.Phe10fs)
NM_000179.3(MSH6):c.2836_2837del (p.Glu946fs) rs2530696236
NM_000179.3(MSH6):c.2858A>T (p.Glu953Val)
NM_000179.3(MSH6):c.2875C>G (p.Arg959Gly)
NM_000179.3(MSH6):c.2877C>T (p.Arg959=) rs781734958
NM_000179.3(MSH6):c.2903_2909dup (p.Trp970fs)
NM_000179.3(MSH6):c.2906A>C (p.Tyr969Ser) rs63749919
NM_000179.3(MSH6):c.2906_2907del (p.Tyr969fs) rs786203924
NM_000179.3(MSH6):c.2944C>G (p.Pro982Ala) rs1553414320
NM_000179.3(MSH6):c.2950A>G (p.Asn984Asp) rs146359682
NM_000179.3(MSH6):c.2966A>T (p.Asn989Ile) rs763146296
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del) rs267608073
NM_000179.3(MSH6):c.3042_3087dup (p.Lys1030delinsValGlyTer)
NM_000179.3(MSH6):c.3052C>G (p.Leu1018Val) rs878853727
NM_000179.3(MSH6):c.307dup (p.Tyr103fs)
NM_000179.3(MSH6):c.3093C>G (p.Asp1031Glu) rs1177250625
NM_000179.3(MSH6):c.3096C>T (p.Cys1032=) rs1553414502
NM_000179.3(MSH6):c.3111_3114del (p.Phe1037fs)
NM_000179.3(MSH6):c.3114_3115dup (p.Asn1039fs) rs2530714528
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer) rs267608042
NM_000179.3(MSH6):c.3142C>T (p.Gln1048Ter) rs200492211
NM_000179.3(MSH6):c.3172+7C>T rs587780676
NM_000179.3(MSH6):c.3172+8T>G rs984296149
NM_000179.3(MSH6):c.3173-12C>T rs1057517629
NM_000179.3(MSH6):c.3173-14CT[2] rs746607182
NM_000179.3(MSH6):c.3173-3C>G rs1060502944
NM_000179.3(MSH6):c.3187C>T (p.Leu1063=) rs1553331257
NM_000179.3(MSH6):c.3202C>A (p.Arg1068=) rs63749843
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
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.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His) rs63750753
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3277G>T (p.Gly1093Ter) rs876659302
NM_000179.3(MSH6):c.3308T>G (p.Phe1103Cys) rs1553331529
NM_000179.3(MSH6):c.3373G>T (p.Gly1125Cys) rs2104482997
NM_000179.3(MSH6):c.3417C>T (p.Gly1139=) rs876660283
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys) rs587779264
NM_000179.3(MSH6):c.3477C>T (p.Tyr1159=) rs398123231
NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp) rs587779935
NM_000179.3(MSH6):c.3485C>G (p.Ala1162Gly)
NM_000179.3(MSH6):c.3492G>A (p.Val1164=) rs1060504745
NM_000179.3(MSH6):c.34C>T (p.Pro12Ser) rs587782084
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs) rs863225408
NM_000179.3(MSH6):c.3533G>A (p.Gly1178Asp) rs772380953
NM_000179.3(MSH6):c.3557-5_3557-4dup rs267608102
NM_000179.3(MSH6):c.3557-6_3557-4del
NM_000179.3(MSH6):c.3559G>T (p.Glu1187Ter)
NM_000179.3(MSH6):c.3577G>T (p.Glu1193Ter) rs63751328
NM_000179.3(MSH6):c.357C>T (p.Phe119=) rs1298565919
NM_000179.3(MSH6):c.3584G>A (p.Ser1195Asn) rs758428552
NM_000179.3(MSH6):c.3640G>T (p.Glu1214Ter) rs1114167744
NM_000179.3(MSH6):c.3646+2T>G rs1553332776
NM_000179.3(MSH6):c.3693T>C (p.Val1231=) rs1553333012
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.3(MSH6):c.3729_3732dup (p.Phe1245fs) rs587779288
NM_000179.3(MSH6):c.3743_3744insT (p.Tyr1249fs) rs786201084
NM_000179.3(MSH6):c.3747_3756del (p.His1248_Tyr1249insTer)
NM_000179.3(MSH6):c.3762_3763delinsTT (p.Glu1254_Asp1255delinsAspTyr) rs878853738
NM_000179.3(MSH6):c.3775_3776del (p.Asn1259fs) rs1572745157
NM_000179.3(MSH6):c.3776A>C (p.Asn1259Thr) rs1258636828
NM_000179.3(MSH6):c.377C>T (p.Ser126Leu) rs1114167689
NM_000179.3(MSH6):c.3801+12_3801+39dup rs1553333219
NM_000179.3(MSH6):c.3802-4T>G rs1572746005
NM_000179.3(MSH6):c.3802-7_3802-4del rs876661171
NM_000179.3(MSH6):c.3802-8_3802-4dup rs745801834
NM_000179.3(MSH6):c.3836G>A (p.Ser1279Asn) rs864622400
NM_000179.3(MSH6):c.3850_3899dup (p.Phe1300fs)
NM_000179.3(MSH6):c.3873G>T (p.Lys1291Asn) rs1670110153
NM_000179.3(MSH6):c.3877G>C (p.Ala1293Pro) rs1461336062
NM_000179.3(MSH6):c.38A>C (p.Lys13Thr) rs41294988
NM_000179.3(MSH6):c.3916_3920dup (p.Asn1307fs) rs1670120965
NM_000179.3(MSH6):c.3925C>T (p.Pro1309Ser)
NM_000179.3(MSH6):c.3956_3957dup (p.Ala1320fs) rs587779297
NM_000179.3(MSH6):c.3964_3982dup (p.Gln1328delinsArgIleTer)
NM_000179.3(MSH6):c.4001+1_4001+29dup
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4002-10_4002-9insTA rs1670201397
NM_000179.3(MSH6):c.4002-10del rs59056100
NM_000179.3(MSH6):c.4002-8_4002-5dup rs780956029
NM_000179.3(MSH6):c.4002-8dup rs267608139
NM_000179.3(MSH6):c.4002-9_4002-8del rs1491588423
NM_000179.3(MSH6):c.4014G>C (p.Leu1338=) rs61748086
NM_000179.3(MSH6):c.4062_4065dup (p.Leu1356fs) rs1553334056
NM_000179.3(MSH6):c.41C>T (p.Ser14Phe) rs863224628
NM_000179.3(MSH6):c.457+33_457+34insGTGT
NM_000179.3(MSH6):c.474A>G (p.Glu158=) rs878853747
NM_000179.3(MSH6):c.477C>T (p.Ala159=) rs2104229136
NM_000179.3(MSH6):c.48G>T (p.Ala16=)
NM_000179.3(MSH6):c.50T>C (p.Leu17Pro) rs1553408119
NM_000179.3(MSH6):c.520A>C (p.Arg174=) rs1405000889
NM_000179.3(MSH6):c.523G>A (p.Ala175Thr) rs2104232775
NM_000179.3(MSH6):c.540_541inv (p.Glu181Lys)
NM_000179.3(MSH6):c.552_555del (p.Asn184fs) rs1023534466
NM_000179.3(MSH6):c.600A>C (p.Ser200=) rs2104239480
NM_000179.3(MSH6):c.628G>A (p.Val210Ile) rs936063254
NM_000179.3(MSH6):c.635C>G (p.Thr212Arg) rs876659637
NM_000179.3(MSH6):c.689A>C (p.Glu230Ala) rs2104291254
NM_000179.3(MSH6):c.736A>G (p.Lys246Glu) rs1572720148
NM_000179.3(MSH6):c.753A>G (p.Ile251Met) rs587779321
NM_000179.3(MSH6):c.767G>A (p.Ser256Asn) rs1553412194
NM_000179.3(MSH6):c.833T>A (p.Ile278Lys) rs876658406
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu) rs267608079
NM_000179.3(MSH6):c.882C>G (p.Val294=) rs1572720691
NM_000179.3(MSH6):c.927T>C (p.Ser309=) rs771288794
NM_000179.3(MSH6):c.947G>C (p.Arg316Thr) rs562487553
NM_000249.3(MLH1):c.1039-?_1558+?del
NM_000249.3(MLH1):c.1732-?_1896+?del
NM_000249.3(MLH1):c.307-?_1667+?dup
NM_000249.3(MLH1):c.381-?_677+?del
NM_000249.3(MLH1):c.546-?_1731+?dup
NM_000249.4(MLH1):c.1011del (p.Asn338fs) rs63750677
NM_000249.4(MLH1):c.1038+1G>C rs267607816
NM_000249.4(MLH1):c.1039-8_1039-7insTA rs535965616
NM_000249.4(MLH1):c.1039-8_1039-7insTTA rs535965616
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTTA rs535965616
NM_000249.4(MLH1):c.1045C>A (p.Leu349Ile)
NM_000249.4(MLH1):c.1171C>T (p.Gln391Ter) rs587778894
NM_000249.4(MLH1):c.119del (p.Cys39_Leu40insTer) rs587778896
NM_000249.4(MLH1):c.1204_1207dup (p.Pro403fs) rs2471123248
NM_000249.4(MLH1):c.121del (p.Asp41fs) rs2470672531
NM_000249.4(MLH1):c.1255A>G (p.Ile419Val) rs781335662
NM_000249.4(MLH1):c.1325_1346delinsATTTT (p.Ala442fs) rs587778903
NM_000249.4(MLH1):c.1331A>G (p.Asn444Ser) rs763189331
NM_000249.4(MLH1):c.134_135insT (p.Ser46fs)
NM_000249.4(MLH1):c.1358dup (p.Thr455fs) rs1553651429
NM_000249.4(MLH1):c.135_137delinsTACT (p.Ser46fs)
NM_000249.4(MLH1):c.136_137inv (p.Ser46Leu)
NM_000249.4(MLH1):c.1444G>A (p.Val482Met) rs1057089565
NM_000249.4(MLH1):c.146T>A (p.Val49Glu) rs63750098
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1558+1G>A rs267607832
NM_000249.4(MLH1):c.1559-10T>G
NM_000249.4(MLH1):c.1559-1G>T rs267607837
NM_000249.4(MLH1):c.1559-1_1667+1del
NM_000249.4(MLH1):c.1559-1_1667+65del
NM_000249.4(MLH1):c.1559-2A>G rs267607836
NM_000249.4(MLH1):c.1587C>T (p.Ser529=) rs767089159
NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg) rs587778937
NM_000249.4(MLH1):c.1667+1G>T rs1434898623
NM_000249.4(MLH1):c.1667+8A>C rs1553658260
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.4(MLH1):c.1725G>T (p.Arg575Ser)
NM_000249.4(MLH1):c.1731+5G>A rs267607850
NM_000249.4(MLH1):c.1738G>A (p.Ala580Thr) rs864622530
NM_000249.4(MLH1):c.1758dup (p.Met587fs) rs63749863
NM_000249.4(MLH1):c.1791G>A (p.Trp597Ter) rs1416171624
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser) rs587778952
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.4(MLH1):c.18_34del (p.Val7fs) rs63751892
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.4(MLH1):c.1923T>A (p.Leu641=) rs1553663840
NM_000249.4(MLH1):c.1923del (p.Leu641_Leu642insTer) rs1553663834
NM_000249.4(MLH1):c.1934_1942delinsT (p.Asn645fs)
NM_000249.4(MLH1):c.1990-11C>A rs2125992744
NM_000249.4(MLH1):c.2020G>C (p.Glu674Gln)
NM_000249.4(MLH1):c.2030G>A (p.Ser677Asn) rs587778970
NM_000249.4(MLH1):c.2038_2063del (p.Cys680fs)
NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter) rs63749867
NM_000249.4(MLH1):c.2048_2050del (p.Phe683del) rs1553664506
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe) rs1064796101
NM_000249.4(MLH1):c.2061del (p.Lys688fs)
NM_000249.4(MLH1):c.206G>A (p.Arg69Lys) rs63751661
NM_000249.4(MLH1):c.2080_2081inv (p.Glu694Ser)
NM_000249.4(MLH1):c.2109_2112dup (p.Pro705fs) rs2471501187
NM_000249.4(MLH1):c.210_213del rs267607723
NM_000249.4(MLH1):c.2121C>T (p.Ser707=) rs886038273
NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter) rs63750561
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter) rs63751022
NM_000249.4(MLH1):c.2146G>T (p.Val716Leu) rs35831931
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs) rs267607903
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.4(MLH1):c.261del (p.Phe88fs) rs267607728
NM_000249.4(MLH1):c.283del (p.Ser95fs) rs1064795441
NM_000249.4(MLH1):c.289T>G (p.Tyr97Asp) rs1553640297
NM_000249.4(MLH1):c.334C>G (p.His112Asp) rs1559517227
NM_000249.4(MLH1):c.346del (p.Thr116fs) rs63750906
NM_000249.4(MLH1):c.36C>A (p.Asp12Glu)
NM_000249.4(MLH1):c.372_373del (p.Ala125fs) rs587779006
NM_000249.4(MLH1):c.413dup (p.Pro139fs)
NM_000249.4(MLH1):c.423A>G (p.Pro141=) rs201176051
NM_000249.4(MLH1):c.453+1G>T rs267607750
NM_000249.4(MLH1):c.456_545+2del rs1553642657
NM_000249.4(MLH1):c.460del (p.Asp154fs) rs1575448385
NM_000249.4(MLH1):c.492del (p.Ala165fs) rs1553642698
NM_000249.4(MLH1):c.546-1G>A rs587779022
NM_000249.4(MLH1):c.546-2_589-59del rs2125805231
NM_000249.4(MLH1):c.588+5G>A rs267607768
NM_000249.4(MLH1):c.589-9_589-6del rs587779026
NM_000249.4(MLH1):c.654_655inv (p.Ile219Val)
NM_000249.4(MLH1):c.677+1G>T rs267607778
NM_000249.4(MLH1):c.70del (p.Val24fs) rs63751396
NM_000249.4(MLH1):c.718T>C (p.Phe240Leu)
NM_000249.4(MLH1):c.753C>G (p.Tyr251Ter) rs63750310
NM_000249.4(MLH1):c.753_755del (p.Tyr251_Ser252delinsTer) rs1553645256
NM_000249.4(MLH1):c.790+5G>A rs267607771
NM_000249.4(MLH1):c.791-1G>A rs267607795
NM_000249.4(MLH1):c.808_811del (p.Thr270fs) rs267607801
NM_000249.4(MLH1):c.810T>C (p.Thr270=) rs1575494991
NM_000249.4(MLH1):c.85G>C (p.Ala29Pro)
NM_000249.4(MLH1):c.876G>A (p.Leu292=) rs773452312
NM_000249.4(MLH1):c.87dup (p.Asn30Ter)
NM_000249.4(MLH1):c.885-2A>G rs267607805
NM_000249.4(MLH1):c.887T>A (p.Leu296Ter) rs63750547
NM_000249.4(MLH1):c.898_908del (p.Pro300fs) rs1553647928
NM_000249.4(MLH1):c.911A>G (p.Asp304Gly) rs63750993
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994
NM_000249.4(MLH1):c.949del (p.Leu317fs) rs1553648029
NM_000251.2(MSH2):c.1662-?_1759+?del
NM_000251.2(MSH2):c.1760-?_2458+?del
NM_000251.2(MSH2):c.2006-?_2210+?del
NM_000251.2(MSH2):c.367-?_1076+?del
NM_000251.2(MSH2):c.367-?_1276+?del
NM_000251.2(MSH2):c.367-?_1386+?del
NM_000251.2(MSH2):c.367-?_645+?del
NM_000251.2(MSH2):c.943-?_1076+?del
NM_000251.3(MSH2):c.-1_211+1176del
NM_000251.3(MSH2):c.-1_211+156del
NM_000251.3(MSH2):c.-1_211+1del
NM_000251.3(MSH2):c.-1_211+866del
NM_000251.3(MSH2):c.-82G>C rs866991159
NM_000251.3(MSH2):c.1005C>T (p.Thr335=) rs749117915
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter) rs63750778
NM_000251.3(MSH2):c.101T>G (p.Val34Gly) rs63751424
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter) rs63750245
NM_000251.3(MSH2):c.103C>G (p.Arg35Gly) rs1060502034
NM_000251.3(MSH2):c.1054G>A (p.Asp352Asn) rs1465121242
NM_000251.3(MSH2):c.1076+1G>A rs267607940
NM_000251.3(MSH2):c.1077_1276del rs1553356518
NM_000251.3(MSH2):c.1094C>A (p.Ala365Asp) rs1242235025
NM_000251.3(MSH2):c.1158T>A (p.Asp386Glu)
NM_000251.3(MSH2):c.1215C>A (p.Tyr405Ter) rs63751271
NM_000251.3(MSH2):c.1217G>T (p.Arg406Leu) rs146567853
NM_000251.3(MSH2):c.1217del (p.Arg406fs)
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg) rs879254234
NM_000251.3(MSH2):c.1277-2_1386+1del rs2103751857
NM_000251.3(MSH2):c.1278_1386+1del rs1553361141
NM_000251.3(MSH2):c.1320dup (p.Thr441fs)
NM_000251.3(MSH2):c.136_164del (p.His46fs) rs63751482
NM_000251.3(MSH2):c.1373T>G (p.Leu458Ter) rs63750521
NM_000251.3(MSH2):c.1375G>C (p.Asp459His) rs1553361295
NM_000251.3(MSH2):c.1386+1G>A rs267607957
NM_000251.3(MSH2):c.1387-2del rs2104082025
NM_000251.3(MSH2):c.1418C>G (p.Ser473Ter) rs63751403
NM_000251.3(MSH2):c.1485A>T (p.Thr495=)
NM_000251.3(MSH2):c.149C>A (p.Ala50Glu) rs876658582
NM_000251.3(MSH2):c.1510+10G>A rs1553365836
NM_000251.3(MSH2):c.1538_1539del (p.Leu513fs) rs863225391
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile) rs373564353
NM_000251.3(MSH2):c.154C>A (p.Leu52Met) rs786202335
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs) rs63749930
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser) rs749212640
NM_000251.3(MSH2):c.1626A>G (p.Val542=) rs1553366635
NM_000251.3(MSH2):c.163del (p.Arg55fs) rs63750337
NM_000251.3(MSH2):c.1672dup (p.Ser558fs)
NM_000251.3(MSH2):c.1746C>A (p.Val582=) rs786201486
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile) rs201118107
NM_000251.3(MSH2):c.174C>G (p.Phe58Leu) rs372189599
NM_000251.3(MSH2):c.1760-1_2006-296del
NM_000251.3(MSH2):c.1760_2005+455del
NM_000251.3(MSH2):c.1856A>C (p.Tyr619Ser)
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.1937A>T (p.Asp646Val) rs41295290
NM_000251.3(MSH2):c.1961A>T (p.Asp654Val) rs2104348304
NM_000251.3(MSH2):c.198C>A (p.Tyr66Ter) rs730881784
NM_000251.3(MSH2):c.1_211del (p.Met1fs)
NM_000251.3(MSH2):c.2043A>G (p.Gln681=) rs730881763
NM_000251.3(MSH2):c.2048G>C (p.Gly683Ala) rs755920849
NM_000251.3(MSH2):c.2052G>T (p.Val684=) rs1667303279
NM_000251.3(MSH2):c.2077T>G (p.Cys693Gly)
NM_000251.3(MSH2):c.2083G>A (p.Val695Met) rs772491283
NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg) rs63750961
NM_000251.3(MSH2):c.2095T>C (p.Ser699Pro) rs1428704795
NM_000251.3(MSH2):c.2100del (p.Glu701fs) rs1553369113
NM_000251.3(MSH2):c.211+1G>C rs1114167883
NM_000251.3(MSH2):c.212-1_366+711del
NM_000251.3(MSH2):c.212-5_212-4del rs746333570
NM_000251.3(MSH2):c.213_1076+1del
NM_000251.3(MSH2):c.213_366+1del rs1553350052
NM_000251.3(MSH2):c.2206C>G (p.Leu736Val) rs876658727
NM_000251.3(MSH2):c.2210+7G>A rs374675118
NM_000251.3(MSH2):c.2211-2A>T rs267608001
NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu) rs63751155
NM_000251.3(MSH2):c.2230T>C (p.Leu744=) rs1188205467
NM_000251.3(MSH2):c.2262_2267del (p.Ser755_Thr756del) rs2528980189
NM_000251.3(MSH2):c.2326G>A (p.Ala776Thr) rs1558521842
NM_000251.3(MSH2):c.2335A>G (p.Met779Val) rs1114167843
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser) rs587782891
NM_000251.3(MSH2):c.23C>A (p.Thr8Lys) rs17217716
NM_000251.3(MSH2):c.2420C>G (p.Thr807Ser) rs41295294
NM_000251.3(MSH2):c.2455A>G (p.Lys819Glu) rs1369739730
NM_000251.3(MSH2):c.2458+10A>G rs1269379998
NM_000251.3(MSH2):c.2480G>A (p.Gly827Glu) rs2104435371
NM_000251.3(MSH2):c.2525_2526del (p.Glu842fs) rs587779148
NM_000251.3(MSH2):c.2538G>T (p.Gln846His)
NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter) rs63749830
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.3(MSH2):c.2599G>T (p.Glu867Ter) rs2104440647
NM_000251.3(MSH2):c.2618_2620dup (p.Cys873_Tyr874insCys)
NM_000251.3(MSH2):c.2634+1G>A rs267608019
NM_000251.3(MSH2):c.2634+4T>C rs1553370486
NM_000251.3(MSH2):c.264del (p.Phe88fs)
NM_000251.3(MSH2):c.2704G>A (p.Glu902Lys) rs867671639
NM_000251.3(MSH2):c.2704G>C (p.Glu902Gln)
NM_000251.3(MSH2):c.2714C>G (p.Thr905Arg) rs267608022
NM_000251.3(MSH2):c.2755A>G (p.Asn919Asp) rs1573582795
NM_000251.3(MSH2):c.2757T>C (p.Asn919=) rs1354355913
NM_000251.3(MSH2):c.332C>T (p.Ala111Val) rs1672561306
NM_000251.3(MSH2):c.338A>G (p.Lys113Arg) rs1672561938
NM_000251.3(MSH2):c.367-2_645+432del rs2104016448
NM_000251.3(MSH2):c.367-2_645+742del
NM_000251.3(MSH2):c.367-400_476del
NM_000251.3(MSH2):c.368_645+1del
NM_000251.3(MSH2):c.373C>A (p.Pro125Thr) rs761767467
NM_000251.3(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000251.3(MSH2):c.403C>G (p.Leu135Val) rs193096019
NM_000251.3(MSH2):c.418_420del (p.Asp140del)
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter) rs63750910
NM_000251.3(MSH2):c.448G>T (p.Val150Phe) rs1558459157
NM_000251.3(MSH2):c.459del (p.Ala154fs) rs2104023773
NM_000251.3(MSH2):c.47A>C (p.Glu16Ala) rs745771647
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.3(MSH2):c.505A>C (p.Ile169Leu)
NM_000251.3(MSH2):c.562G>C (p.Glu188Gln) rs1064795622
NM_000251.3(MSH2):c.606C>G (p.Pro202=) rs63750600
NM_000251.3(MSH2):c.616_617dup (p.Ala207fs)
NM_000251.3(MSH2):c.687_688insT (p.Ala230fs) rs63750364
NM_000251.3(MSH2):c.690T>C (p.Ala230=) rs1553351595
NM_000251.3(MSH2):c.793-1G>A rs863225397
NM_000251.3(MSH2):c.793-2A>T rs267607933
NM_000251.3(MSH2):c.806C>T (p.Ser269Leu) rs63750058
NM_000251.3(MSH2):c.809T>C (p.Leu270Pro) rs1573451078
NM_000251.3(MSH2):c.812C>G (p.Ser271Cys) rs139891783
NM_000251.3(MSH2):c.862C>T (p.Gln288Ter) rs63750097
NM_000251.3(MSH2):c.867T>G (p.Phe289Leu)
NM_000251.3(MSH2):c.924_942del (p.Ala309fs)
NM_000251.3(MSH2):c.930T>C (p.Leu310=) rs2104180148
NM_000251.3(MSH2):c.940C>T (p.Gln314Ter) rs1114167845
NM_000251.3(MSH2):c.942+1G>A rs587779193
NM_000251.3(MSH2):c.942+25_942+29del rs11309117
NM_000251.3(MSH2):c.942+3_942+4delinsGG
NM_000251.3(MSH2):c.942+3_942+4insC
NM_000251.3(MSH2):c.943-6_943-1delinsA
NM_000251.3(MSH2):c.946del (p.Ser316fs) rs2465814567
NM_000251.3(MSH2):c.965G>T (p.Gly322Val) rs4987188
NM_000251.3(MSH2):c.989T>C (p.Leu330Pro) rs63750630
NM_000534.5(PMS1):c.418+40T>A
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs) rs1554294508
NM_000535.7(PMS2):c.-6G>T
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1026A>C (p.Gln342His) rs561993366
NM_000535.7(PMS2):c.1026A>G (p.Gln342=) rs561993366
NM_000535.7(PMS2):c.1051T>C (p.Leu351=) rs1554298759
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1145-982_2006+2del
NM_000535.7(PMS2):c.1159A>C (p.Met387Leu) rs876658440
NM_000535.7(PMS2):c.1204C>A (p.Gln402Lys) rs587782789
NM_000535.7(PMS2):c.1245G>A (p.Val415=) rs370701800
NM_000535.7(PMS2):c.132_134del (p.Glu44_Asn45delinsAsp)
NM_000535.7(PMS2):c.1338T>C (p.Pro446=) rs786203033
NM_000535.7(PMS2):c.1353G>A (p.Arg451=)
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg) rs569947936
NM_000535.7(PMS2):c.1356T>G (p.Gly452=) rs786202946
NM_000535.7(PMS2):c.1358T>G (p.Met453Arg) rs1060503130
NM_000535.7(PMS2):c.135_136del (p.Asn45fs) rs1583418616
NM_000535.7(PMS2):c.1362_1408dup (p.Pro470delinsArgLeuLeuAlaLeuGlnValProSerLeuThrLysAlaSerTer)
NM_000535.7(PMS2):c.1414A>T (p.Lys472Ter) rs1562633172
NM_000535.7(PMS2):c.1421C>T (p.Ala474Val)
NM_000535.7(PMS2):c.1437C>T (p.His479=) rs63750685
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met) rs1805323
NM_000535.7(PMS2):c.1565G>C (p.Ser522Thr) rs1783049434
NM_000535.7(PMS2):c.1632C>A (p.Asp544Glu) rs786203439
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.1657T>C (p.Ser553Pro)
NM_000535.7(PMS2):c.1671T>C (p.Asp557=) rs1554297386
NM_000535.7(PMS2):c.1673C>T (p.Thr558Ile) rs114037612
NM_000535.7(PMS2):c.1682A>G (p.Lys561Arg) rs876658481
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln) rs587780725
NM_000535.7(PMS2):c.1712T>G (p.Leu571Arg) rs1060503128
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer) rs1060503126
NM_000535.7(PMS2):c.1730dup (p.Arg578fs) rs587779330
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg) rs764252217
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1897C>T (p.His633Tyr) rs1583314065
NM_000535.7(PMS2):c.1916G>A (p.Ser639Asn) rs876659769
NM_000535.7(PMS2):c.1946G>A (p.Arg649Lys) rs1583313460
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.7(PMS2):c.2040T>G (p.Gly680=)
NM_000535.7(PMS2):c.2043G>T (p.Gln681His) rs876658953
NM_000535.7(PMS2):c.2085C>T (p.Ile695=) rs757157176
NM_000535.7(PMS2):c.2091A>G (p.Ile697Met) rs1554295855
NM_000535.7(PMS2):c.2095G>T (p.Asp699Tyr) rs587781317
NM_000535.7(PMS2):c.2154C>T (p.Leu718=) rs749554813
NM_000535.7(PMS2):c.215G>T (p.Gly72Val) rs730881915
NM_000535.7(PMS2):c.2175-1337_2445+1del
NM_000535.7(PMS2):c.2176C>T (p.Pro726Ser) rs1407555810
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.21G>C (p.Ser7=) rs587780726
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe) rs758225108
NM_000535.7(PMS2):c.226GAA[2] (p.Glu78del) rs386833411
NM_000535.7(PMS2):c.2276-1_2445+1del
NM_000535.7(PMS2):c.2276_2444dup (p.Ser815_Val816insSerSerHisTer)
NM_000535.7(PMS2):c.23+16A>G rs1554308921
NM_000535.7(PMS2):c.23+21_23+28del rs1554308880
NM_000535.7(PMS2):c.2357_2445+509del
NM_000535.7(PMS2):c.2380C>G (p.Pro794Ala) rs773393960
NM_000535.7(PMS2):c.2416A>G (p.Met806Val) rs1554293792
NM_000535.7(PMS2):c.2445+5G>C rs1583279335
NM_000535.7(PMS2):c.2446-171_*1del
NM_000535.7(PMS2):c.2457G>T (p.Gly819=) rs786203315
NM_000535.7(PMS2):c.2458dup (p.Thr820fs) rs1554292880
NM_000535.7(PMS2):c.2500_2501delinsGG (p.Met834Gly)
NM_000535.7(PMS2):c.2536G>T (p.Gly846Ter) rs1583269216
NM_000535.7(PMS2):c.2583G>A (p.Gln861=)
NM_000535.7(PMS2):c.2587T>G (p.Ter863Gly) rs1060503124
NM_000535.7(PMS2):c.280G>A (p.Glu94Lys) rs1583408872
NM_000535.7(PMS2):c.289G>T (p.Asp97Tyr) rs1395998044
NM_000535.7(PMS2):c.312T>C (p.Phe104=) rs778519215
NM_000535.7(PMS2):c.321G>T (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.323G>C (p.Gly108Ala) rs1785369293
NM_000535.7(PMS2):c.325dup (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.363C>A (p.Thr121=)
NM_000535.7(PMS2):c.387G>A (p.Ala129=) rs876658275
NM_000535.7(PMS2):c.390G>T (p.Lys130Asn)
NM_000535.7(PMS2):c.467C>T (p.Thr156Ile) rs1554303953
NM_000535.7(PMS2):c.468A>T (p.Thr156=) rs1364918195
NM_000535.7(PMS2):c.567T>A (p.His189Gln)
NM_000535.7(PMS2):c.580A>C (p.Ile194Leu)
NM_000535.7(PMS2):c.613C>T (p.Gln205Ter) rs758250810
NM_000535.7(PMS2):c.706-5_706-4dup rs60794673
NM_000535.7(PMS2):c.779_780delinsTG (p.Ser260Leu) rs730881920
NM_000535.7(PMS2):c.779_780inv (p.Ser260Trp)
NM_000535.7(PMS2):c.800T>G (p.Phe267Cys) rs1034075819
NM_000535.7(PMS2):c.817A>G (p.Ile273Val) rs587778621
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000535.7(PMS2):c.860dup (p.Gln288fs) rs2128775362
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.889T>G (p.Cys297Gly) rs1562663507
NM_000535.7(PMS2):c.903+3A>G rs1562663258
NM_000535.7(PMS2):c.904G>C (p.Val302Leu)
NM_000535.7(PMS2):c.906_1144+2del
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter) rs143277125
NM_000535.7(PMS2):c.967C>G (p.Leu323Val) rs1554299391
NM_000535.7(PMS2):c.989-3T>C rs1156325177
NM_000535.7(PMS2):c.989-86_1144+1del
NM_001040108.2(MLH3):c.-15A>G
NM_001040108.2(MLH3):c.1006_1009del (p.Leu336fs)
NM_001040108.2(MLH3):c.1223C>A (p.Ser408Ter) rs745988563
NM_001040108.2(MLH3):c.1267C>T (p.Gln423Ter)
NM_001040108.2(MLH3):c.149T>A (p.Phe50Tyr) rs148409389
NM_001040108.2(MLH3):c.1533T>G (p.Pro511=)
NM_001040108.2(MLH3):c.1770T>A (p.Cys590Ter) rs769773711
NM_001040108.2(MLH3):c.1901G>C (p.Gly634Ala)
NM_001040108.2(MLH3):c.1925T>G (p.Phe642Cys) rs777245092
NM_001040108.2(MLH3):c.1969G>C (p.Asp657His)
NM_001040108.2(MLH3):c.2076A>G (p.Thr692=) rs1892338323
NM_001040108.2(MLH3):c.2131T>C (p.Ser711Pro) rs894904610
NM_001040108.2(MLH3):c.2147_2148del (p.Ser716fs) rs1892331030
NM_001040108.2(MLH3):c.2194A>C (p.Lys732Gln) rs756278550
NM_001040108.2(MLH3):c.2636G>T (p.Arg879Ile) rs2503265167
NM_001040108.2(MLH3):c.2713A>G (p.Ser905Gly) rs1595084225
NM_001040108.2(MLH3):c.3122G>T (p.Cys1041Phe)
NM_001040108.2(MLH3):c.3185C>G (p.Thr1062Ser)
NM_001040108.2(MLH3):c.3380-14C>G
NM_001040108.2(MLH3):c.3443C>T (p.Pro1148Leu) rs2139493159
NM_001040108.2(MLH3):c.3466-19_3569dup
NM_001040108.2(MLH3):c.3550G>A (p.Gly1184Arg) rs747888681
NM_001040108.2(MLH3):c.3825A>G (p.Leu1275=)
NM_001040108.2(MLH3):c.4150_4151del (p.Leu1384fs) rs1162704717
NM_001040108.2(MLH3):c.4255C>G (p.Leu1419Val)
NM_001040108.2(MLH3):c.4289_4293del (p.Arg1430fs) rs1450109980
NM_001040108.2(MLH3):c.446A>G (p.Tyr149Cys)
NM_001040108.2(MLH3):c.589A>T (p.Met197Leu) rs750800691
NM_001040108.2(MLH3):c.735CAA[1] (p.Asn246del) rs774010757
NM_001406873.1(PMS2):c.705+1685_790del
NM_002354.2(EPCAM):c.904-?_945+?del
NM_002354.3(EPCAM):c.-2_77del (p.Met1fs) rs2103737908
NM_002354.3(EPCAM):c.556-1_657+289del
NM_002354.3(EPCAM):c.556_945del390 (p.Tyr186_Ter315del)
NM_002354.3(EPCAM):c.904-1_*1del
Single allele

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