ClinVar Miner

List of variants studied for Lynch syndrome by Baylor Genetics

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 933
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+2T>A rs587779195 0.00101
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400 0.00038
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala) rs3136334 0.00033
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722 0.00016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr) rs377403073 0.00014
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys) rs376042544 0.00012
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val) rs63750684 0.00011
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu) rs63750843 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000535.7(PMS2):c.340C>T (p.Leu114Phe) rs757441871 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_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.1505A>G (p.Asp502Gly) rs148192104 0.00009
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) rs63751107 0.00009
NM_000251.3(MSH2):c.1159C>T (p.Leu387Phe) rs751249745 0.00008
NM_000251.3(MSH2):c.820A>G (p.Ile274Val) rs371944271 0.00008
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704 0.00008
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_000251.3(MSH2):c.818T>C (p.Val273Ala) rs144288433 0.00007
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln) rs587781909 0.00007
NM_000535.7(PMS2):c.226G>C (p.Glu76Gln) rs371682056 0.00007
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914 0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val) rs587780039 0.00006
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln) rs368516768 0.00006
NM_000535.7(PMS2):c.1703C>A (p.Pro568Gln) rs869312801 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
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.80G>A (p.Arg27Gln) rs138705565 0.00005
NM_000251.3(MSH2):c.1473G>T (p.Lys491Asn) rs1064795039 0.00005
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000251.3(MSH2):c.2267C>G (p.Thr756Ser) rs372383829 0.00005
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu) rs201334592 0.00005
NM_000535.7(PMS2):c.101G>T (p.Ser34Ile) rs370612538 0.00005
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383 0.00005
NM_000535.7(PMS2):c.71A>C (p.His24Pro) rs139233015 0.00005
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr) rs141344760 0.00004
NM_000249.4(MLH1):c.1227G>C (p.Gln409His) rs775776362 0.00004
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr) rs377433038 0.00004
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr) rs63751145 0.00004
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 0.00004
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala) rs267607840 0.00004
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) rs63750266 0.00004
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys) rs367654552 0.00004
NM_000249.4(MLH1):c.945C>G (p.His315Gln) rs587779959 0.00004
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val) rs748115066 0.00004
NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro) rs587779962 0.00004
NM_000251.3(MSH2):c.1530G>C (p.Gln510His) rs587782355 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.860G>C (p.Gly287Ala) rs587782567 0.00004
NM_000251.3(MSH2):c.891C>G (p.Ser297Arg) rs551236465 0.00004
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg) rs536111818 0.00004
NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu) rs199700509 0.00004
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr) rs769554577 0.00004
NM_000535.7(PMS2):c.2287G>A (p.Glu763Lys) rs587780051 0.00004
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln) rs63751284 0.00004
NM_000535.7(PMS2):c.455C>G (p.Pro152Arg) rs876660161 0.00004
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00004
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser) rs777903002 0.00004
NM_000535.7(PMS2):c.916G>A (p.Val306Met) rs587780063 0.00004
NM_000535.7(PMS2):c.961G>A (p.Val321Ile) rs377043696 0.00004
NM_000179.3(MSH6):c.719G>A (p.Arg240Gln) rs542848931 0.00003
NM_000249.4(MLH1):c.1051G>A (p.Gly351Arg) rs1437454428 0.00003
NM_000249.4(MLH1):c.116+5G>A rs267607710 0.00003
NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp) rs61751644 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.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000249.4(MLH1):c.286A>G (p.Thr96Ala) rs770276731 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_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.14C>A (p.Pro5Gln) rs56170584 0.00003
NM_000251.3(MSH2):c.157G>T (p.Ala53Ser) rs755931648 0.00003
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu) rs759263820 0.00003
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000251.3(MSH2):c.2517T>A (p.His839Gln) rs267608016 0.00003
NM_000251.3(MSH2):c.260C>G (p.Ser87Cys) rs587781447 0.00003
NM_000251.3(MSH2):c.74G>A (p.Gly25Asp) rs767747378 0.00003
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr) rs63750686 0.00003
NM_000535.7(PMS2):c.1732C>A (p.Arg578Ser) rs63750534 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.2288A>G (p.Glu763Gly) rs587780052 0.00003
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser) rs864622274 0.00003
NM_000535.7(PMS2):c.355G>A (p.Asp119Asn) rs587781913 0.00003
NM_000535.7(PMS2):c.751G>A (p.Val251Met) rs142434011 0.00003
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp) rs182246929 0.00003
NM_000535.7(PMS2):c.886C>T (p.Pro296Ser) rs375553553 0.00003
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878 0.00003
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp) rs114185660 0.00003
NM_000249.4(MLH1):c.1256T>C (p.Ile419Thr) rs377484262 0.00002
NM_000249.4(MLH1):c.226G>A (p.Val76Ile) rs878853788 0.00002
NM_000249.4(MLH1):c.530T>C (p.Leu177Ser) rs758040210 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.925C>T (p.Pro309Ser) rs267607808 0.00002
NM_000251.3(MSH2):c.1032G>C (p.Gln344His) rs375799148 0.00002
NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala) rs150503781 0.00002
NM_000251.3(MSH2):c.116G>C (p.Arg39Pro) rs587782759 0.00002
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu) rs374135434 0.00002
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys) rs63750328 0.00002
NM_000251.3(MSH2):c.1817T>A (p.Val606Asp) rs376044376 0.00002
NM_000251.3(MSH2):c.1937A>C (p.Asp646Ala) rs41295290 0.00002
NM_000251.3(MSH2):c.1943T>A (p.Ile648Asn) rs763100088 0.00002
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile) rs587782396 0.00002
NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro) rs774440277 0.00002
NM_000251.3(MSH2):c.2379G>T (p.Gln793His) rs767520406 0.00002
NM_000251.3(MSH2):c.2650A>T (p.Ile884Phe) rs774732579 0.00002
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu) rs750746034 0.00002
NM_000251.3(MSH2):c.855C>G (p.Asn285Lys) rs759242666 0.00002
NM_000251.3(MSH2):c.894G>C (p.Gln298His) rs587781397 0.00002
NM_000251.3(MSH2):c.938T>C (p.Phe313Ser) rs780656204 0.00002
NM_000251.3(MSH2):c.964G>A (p.Gly322Ser) rs773301485 0.00002
NM_000535.7(PMS2):c.1048C>T (p.Leu350Phe) rs587782875 0.00002
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248 0.00002
NM_000535.7(PMS2):c.133A>G (p.Asn45Asp) rs1402531091 0.00002
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451 0.00002
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys) rs778531080 0.00002
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000535.7(PMS2):c.2497C>T (p.His833Tyr) rs777470381 0.00002
NM_000535.7(PMS2):c.412G>C (p.Asp138His) rs863224678 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.901A>G (p.Lys301Glu) rs757409701 0.00002
NM_000535.7(PMS2):c.972C>A (p.Asn324Lys) rs182085259 0.00002
NM_000535.7(PMS2):c.989A>G (p.Glu330Gly) rs761913816 0.00002
NM_000179.3(MSH6):c.3155A>G (p.Glu1052Gly) rs587781568 0.00001
NM_000249.4(MLH1):c.-11C>T rs776898290 0.00001
NM_000249.4(MLH1):c.1063C>T (p.Pro355Ser) rs756347993 0.00001
NM_000249.4(MLH1):c.107T>C (p.Ile36Thr) rs267607707 0.00001
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu) rs201673334 0.00001
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn) rs587779951 0.00001
NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn) rs373767220 0.00001
NM_000249.4(MLH1):c.1277A>T (p.Gln426Leu) rs876659252 0.00001
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp) rs587779952 0.00001
NM_000249.4(MLH1):c.1415G>A (p.Arg472Lys) rs63750498 0.00001
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln) rs63751083 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.1538T>C (p.Ile513Thr) rs876658689 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.1669G>A (p.Glu557Lys) rs63751244 0.00001
NM_000249.4(MLH1):c.1761G>A (p.Met587Ile) rs747665234 0.00001
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr) rs587782621 0.00001
NM_000249.4(MLH1):c.1834G>A (p.Val612Ile) rs587779956 0.00001
NM_000249.4(MLH1):c.1842T>G (p.Phe614Leu) rs758353338 0.00001
NM_000249.4(MLH1):c.1850A>C (p.Lys617Thr) rs780199021 0.00001
NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu) rs377241633 0.00001
NM_000249.4(MLH1):c.2016T>G (p.Cys672Trp) rs1312172811 0.00001
NM_000249.4(MLH1):c.2017T>C (p.Phe673Leu) rs587780680 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.2060G>A (p.Arg687Gln) rs587781310 0.00001
NM_000249.4(MLH1):c.207+1G>A rs267607718 0.00001
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys) rs587778986 0.00001
NM_000249.4(MLH1):c.221A>T (p.Asp74Val) rs751894165 0.00001
NM_000249.4(MLH1):c.2240C>G (p.Pro747Arg) rs1224959447 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 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.346A>G (p.Thr116Ala) rs750353040 0.00001
NM_000249.4(MLH1):c.359C>G (p.Ala120Gly) rs267607740 0.00001
NM_000249.4(MLH1):c.386G>A (p.Ser129Asn) rs755678310 0.00001
NM_000249.4(MLH1):c.452C>T (p.Thr151Met) rs776969475 0.00001
NM_000249.4(MLH1):c.532G>C (p.Glu178Gln) rs1248251121 0.00001
NM_000249.4(MLH1):c.563C>T (p.Ala188Val) rs777971431 0.00001
NM_000249.4(MLH1):c.589-17T>A rs754180618 0.00001
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu) rs587779029 0.00001
NM_000249.4(MLH1):c.650G>A (p.Arg217His) rs762099920 0.00001
NM_000249.4(MLH1):c.652T>C (p.Ser218Pro) rs750650349 0.00001
NM_000249.4(MLH1):c.678-4A>G rs766711342 0.00001
NM_000249.4(MLH1):c.682C>A (p.Leu228Met) rs751628735 0.00001
NM_000249.4(MLH1):c.743A>G (p.Asn248Ser) rs587782800 0.00001
NM_000249.4(MLH1):c.788A>G (p.Asn263Ser) rs104894997 0.00001
NM_000249.4(MLH1):c.797T>C (p.Leu266Pro) rs747697495 0.00001
NM_000249.4(MLH1):c.79C>T (p.Arg27Trp) rs756398627 0.00001
NM_000249.4(MLH1):c.880C>T (p.Leu294Phe) rs2082757345 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.10C>A (p.Gln4Lys) rs878853797 0.00001
NM_000251.3(MSH2):c.1124C>T (p.Thr375Ile) rs774539871 0.00001
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg) rs776174711 0.00001
NM_000251.3(MSH2):c.1157A>G (p.Asp386Gly) rs1203515094 0.00001
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr) rs878853798 0.00001
NM_000251.3(MSH2):c.1175A>T (p.Lys392Met) rs61756465 0.00001
NM_000251.3(MSH2):c.118G>A (p.Gly40Ser) rs63751260 0.00001
NM_000251.3(MSH2):c.1223A>G (p.Tyr408Cys) rs63750379 0.00001
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met) rs751431238 0.00001
NM_000251.3(MSH2):c.1334C>T (p.Ser445Phe) rs752067883 0.00001
NM_000251.3(MSH2):c.1361T>C (p.Ile454Thr) rs1060502025 0.00001
NM_000251.3(MSH2):c.1379T>C (p.Met460Thr) rs1553361303 0.00001
NM_000251.3(MSH2):c.1418C>T (p.Ser473Leu) rs63751403 0.00001
NM_000251.3(MSH2):c.1432C>T (p.Leu478Phe) rs1051194508 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.1478A>T (p.Gln493Leu) rs376990143 0.00001
NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro) rs55653533 0.00001
NM_000251.3(MSH2):c.1571G>A (p.Arg524His) rs63751207 0.00001
NM_000251.3(MSH2):c.1622C>T (p.Thr541Ile) rs864622079 0.00001
NM_000251.3(MSH2):c.1684G>C (p.Glu562Gln) rs1114167816 0.00001
NM_000251.3(MSH2):c.1709A>G (p.Tyr570Cys) rs587779963 0.00001
NM_000251.3(MSH2):c.1781C>T (p.Thr594Ile) rs1553368510 0.00001
NM_000251.3(MSH2):c.1792G>A (p.Val598Met) rs778152746 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.1819A>G (p.Ser607Gly) rs772991620 0.00001
NM_000251.3(MSH2):c.1882G>A (p.Gly628Arg) rs371776176 0.00001
NM_000251.3(MSH2):c.1907C>T (p.Ala636Val) rs63750279 0.00001
NM_000251.3(MSH2):c.1967A>G (p.Tyr656Cys) rs185356145 0.00001
NM_000251.3(MSH2):c.1999A>G (p.Ile667Val) rs876660585 0.00001
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg) rs267607995 0.00001
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) rs63750790 0.00001
NM_000251.3(MSH2):c.2083G>C (p.Val695Leu) rs772491283 0.00001
NM_000251.3(MSH2):c.211+5G>T rs1060501999 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000251.3(MSH2):c.2170A>G (p.Thr724Ala) rs879254203 0.00001
NM_000251.3(MSH2):c.2171C>T (p.Thr724Met) rs63751125 0.00001
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr) rs772662439 0.00001
NM_000251.3(MSH2):c.2224G>A (p.Asp742Asn) rs879254183 0.00001
NM_000251.3(MSH2):c.2296A>G (p.Ile766Val) rs374399939 0.00001
NM_000251.3(MSH2):c.2320A>T (p.Ile774Phe) rs775464903 0.00001
NM_000251.3(MSH2):c.2386A>G (p.Thr796Ala) rs876660738 0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val) rs63749841 0.00001
NM_000251.3(MSH2):c.2487T>G (p.His829Gln) rs989510855 0.00001
NM_000251.3(MSH2):c.2504A>G (p.Asn835Ser) rs779729016 0.00001
NM_000251.3(MSH2):c.2569A>G (p.Ile857Val) rs753459308 0.00001
NM_000251.3(MSH2):c.2593A>G (p.Ile865Val) rs1013401625 0.00001
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu) rs730881772 0.00001
NM_000251.3(MSH2):c.2789dup (p.Val932fs) rs786202481 0.00001
NM_000251.3(MSH2):c.319G>C (p.Ala107Pro) rs587779158 0.00001
NM_000251.3(MSH2):c.386C>G (p.Ser129Cys) rs587779972 0.00001
NM_000251.3(MSH2):c.38G>A (p.Ser13Asn) rs63749907 0.00001
NM_000251.3(MSH2):c.395A>T (p.Glu132Val) rs1486720679 0.00001
NM_000251.3(MSH2):c.422T>C (p.Met141Thr) rs768313658 0.00001
NM_000251.3(MSH2):c.437G>T (p.Gly146Val) rs772052262 0.00001
NM_000251.3(MSH2):c.43G>A (p.Ala15Thr) rs1183892581 0.00001
NM_000251.3(MSH2):c.49G>A (p.Val17Ile) rs63750966 0.00001
NM_000251.3(MSH2):c.517C>G (p.Leu173Val) rs1176822890 0.00001
NM_000251.3(MSH2):c.554C>T (p.Ser185Phe) rs878853819 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.701C>T (p.Thr234Ile) rs730881773 0.00001
NM_000251.3(MSH2):c.715C>G (p.Gln239Glu) rs63750488 0.00001
NM_000251.3(MSH2):c.727C>T (p.Arg243Trp) rs138857091 0.00001
NM_000251.3(MSH2):c.742A>G (p.Lys248Glu) rs587779178 0.00001
NM_000251.3(MSH2):c.755A>G (p.Gln252Arg) rs370906735 0.00001
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser) rs587781294 0.00001
NM_000251.3(MSH2):c.803C>T (p.Ser268Leu) rs563410947 0.00001
NM_000251.3(MSH2):c.877A>G (p.Thr293Ala) rs1296650088 0.00001
NM_000251.3(MSH2):c.905T>C (p.Leu302Ser) rs63749914 0.00001
NM_000535.7(PMS2):c.1058C>T (p.Ala353Val) rs543676323 0.00001
NM_000535.7(PMS2):c.106A>C (p.Ser36Arg) rs587781918 0.00001
NM_000535.7(PMS2):c.1139T>G (p.Val380Gly) rs748971523 0.00001
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr) rs370752614 0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617 0.00001
NM_000535.7(PMS2):c.1262G>A (p.Arg421Gln) rs778482303 0.00001
NM_000535.7(PMS2):c.1264G>A (p.Glu422Lys) rs587782175 0.00001
NM_000535.7(PMS2):c.1477G>A (p.Asp493Asn) rs148642064 0.00001
NM_000535.7(PMS2):c.14A>T (p.Glu5Val) rs876659080 0.00001
NM_000535.7(PMS2):c.163+4A>G rs864622749 0.00001
NM_000535.7(PMS2):c.164-1G>A rs763308607 0.00001
NM_000535.7(PMS2):c.1765G>C (p.Asp589His) rs749727182 0.00001
NM_000535.7(PMS2):c.182A>G (p.Tyr61Cys) rs773109986 0.00001
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422 0.00001
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg) rs267608167 0.00001
NM_000535.7(PMS2):c.2033T>C (p.Ile678Thr) rs587782553 0.00001
NM_000535.7(PMS2):c.2128G>A (p.Glu710Lys) rs1060503131 0.00001
NM_000535.7(PMS2):c.2164A>G (p.Arg722Gly) rs1284646352 0.00001
NM_000535.7(PMS2):c.2174+1G>A rs267608172 0.00001
NM_000535.7(PMS2):c.2207A>C (p.Glu736Ala) rs1060503115 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.2266G>T (p.Asp756Tyr) rs762206330 0.00001
NM_000535.7(PMS2):c.23+1G>T rs587782074 0.00001
NM_000535.7(PMS2):c.2335G>A (p.Gly779Arg) rs587780053 0.00001
NM_000535.7(PMS2):c.2345A>G (p.Asp782Gly) rs745500014 0.00001
NM_000535.7(PMS2):c.2359A>T (p.Ile787Phe) rs191300933 0.00001
NM_000535.7(PMS2):c.2365A>T (p.Met789Leu) rs377259633 0.00001
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile) rs368737800 0.00001
NM_000535.7(PMS2):c.2396G>A (p.Arg799Gln) rs587780055 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.2412G>C (p.Lys804Asn) rs547715146 0.00001
NM_000535.7(PMS2):c.2414A>G (p.Gln805Arg) rs967502389 0.00001
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919 0.00001
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu) rs587782665 0.00001
NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys) rs587782828 0.00001
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter) rs1064794083 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000535.7(PMS2):c.346G>A (p.Ala116Thr) rs751799116 0.00001
NM_000535.7(PMS2):c.353+4A>G rs760538709 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.403C>G (p.Leu135Val) rs876658423 0.00001
NM_000535.7(PMS2):c.452G>A (p.Arg151His) rs35629870 0.00001
NM_000535.7(PMS2):c.466A>G (p.Thr156Ala) rs786204206 0.00001
NM_000535.7(PMS2):c.473G>T (p.Ser158Ile) rs750354871 0.00001
NM_000535.7(PMS2):c.479A>G (p.Gln160Arg) rs1554303922 0.00001
NM_000535.7(PMS2):c.494C>T (p.Thr165Ile) rs587781541 0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917 0.00001
NM_000535.7(PMS2):c.538-1G>C rs988423880 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000535.7(PMS2):c.596G>A (p.Arg199His) rs876658387 0.00001
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser) rs779946576 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000535.7(PMS2):c.667A>G (p.Ile223Val) rs876660067 0.00001
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn) rs1060503111 0.00001
NM_000535.7(PMS2):c.791A>G (p.His264Arg) rs1060503129 0.00001
NM_000535.7(PMS2):c.804-2A>G rs1307026290 0.00001
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter) rs786201047 0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736 0.00001
NM_000535.7(PMS2):c.847A>C (p.Ser283Arg) rs876660871 0.00001
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln) rs373239341 0.00001
NM_000535.7(PMS2):c.884G>A (p.Arg295Gln) rs369763423 0.00001
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955 0.00001
NM_000535.7(PMS2):c.913C>G (p.Leu305Val) rs750420143 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.1501C>G (p.His501Asp) rs779411998
NM_000179.3(MSH6):c.61A>G (p.Asn21Asp) rs1223476490
NM_000249.4(MLH1):c.-167del
NM_000249.4(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.4(MLH1):c.1012A>G (p.Asn338Asp)
NM_000249.4(MLH1):c.1026G>A (p.Met342Ile) rs1060500704
NM_000249.4(MLH1):c.1038G>A (p.Gln346=) rs63751715
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.1147A>G (p.Met383Val) rs1559552349
NM_000249.4(MLH1):c.1148T>G (p.Met383Arg)
NM_000249.4(MLH1):c.1154G>C (p.Arg385Pro) rs63750430
NM_000249.4(MLH1):c.116+3A>T
NM_000249.4(MLH1):c.1211del (p.Leu404fs)
NM_000249.4(MLH1):c.1223C>A (p.Pro408His) rs1241839317
NM_000249.4(MLH1):c.1259C>T (p.Ser420Phe) rs63751179
NM_000249.4(MLH1):c.125C>T (p.Ala42Val) rs587778901
NM_000249.4(MLH1):c.1285GAG[1] (p.Glu430del) rs1064795262
NM_000249.4(MLH1):c.1325C>A (p.Ala442Asp) rs765563111
NM_000249.4(MLH1):c.133A>G (p.Thr45Ala) rs876658416
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.1410-2A>G rs746536721
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs) rs63751592
NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp) rs147939838
NM_000249.4(MLH1):c.1453G>T (p.Asp485Tyr) rs63750314
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1484C>T (p.Thr495Ile) rs1060500685
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs) rs1553653084
NM_000249.4(MLH1):c.1524T>G (p.Ser508Arg) rs886058383
NM_000249.4(MLH1):c.1546C>T (p.Gln516Ter) rs1553653195
NM_000249.4(MLH1):c.154A>T (p.Lys52Ter)
NM_000249.4(MLH1):c.1554dup (p.Glu519Ter) rs63751689
NM_000249.4(MLH1):c.1558+2T>A rs267607831
NM_000249.4(MLH1):c.155_156del (p.Lys52fs) rs63750028
NM_000249.4(MLH1):c.1572G>C (p.Met524Ile) rs587779953
NM_000249.4(MLH1):c.1588_1590del (p.Phe530del) rs587778930
NM_000249.4(MLH1):c.1598G>C (p.Cys533Ser) rs564240478
NM_000249.4(MLH1):c.1667+4A>C rs983986337
NM_000249.4(MLH1):c.1667+4A>G rs983986337
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe) rs786202693
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val) rs1559578814
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser) rs587781796
NM_000249.4(MLH1):c.1731+2dup
NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs) rs1553662622
NM_000249.4(MLH1):c.1757C>T (p.Ala586Val) rs63750587
NM_000249.4(MLH1):c.1758dup (p.Met587fs) rs63749863
NM_000249.4(MLH1):c.1766C>T (p.Ala589Val) rs63750016
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
NM_000249.4(MLH1):c.1782G>C (p.Glu594Asp) rs915595144
NM_000249.4(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs) rs863225378
NM_000249.4(MLH1):c.1791G>A (p.Trp597Ter) rs1416171624
NM_000249.4(MLH1):c.17G>T (p.Gly6Val)
NM_000249.4(MLH1):c.1808C>T (p.Pro603Leu) rs63750876
NM_000249.4(MLH1):c.1823C>T (p.Ala608Val) rs267607864
NM_000249.4(MLH1):c.1838A>G (p.Glu613Gly)
NM_000249.4(MLH1):c.1841_1842del (p.Phe614fs)
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1853A>T (p.Lys618Met) rs63750449
NM_000249.4(MLH1):c.1858del (p.Glu620fs) rs786203456
NM_000249.4(MLH1):c.1874A>G (p.Tyr625Cys) rs748851107
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.4(MLH1):c.1894G>A (p.Glu632Lys)
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000249.4(MLH1):c.190_191del (p.Asn64fs) rs63750469
NM_000249.4(MLH1):c.1910T>C (p.Ile637Thr) rs1575627499
NM_000249.4(MLH1):c.1928T>C (p.Ile643Thr) rs1553663856
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu) rs63750726
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro) rs587778964
NM_000249.4(MLH1):c.1989+5G>T rs267607878
NM_000249.4(MLH1):c.1990-2A>G rs267607883
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2014T>A (p.Cys672Ser) rs2085466553
NM_000249.4(MLH1):c.2024G>A (p.Ser675Asn) rs781637991
NM_000249.4(MLH1):c.2024G>C (p.Ser675Thr) rs781637991
NM_000249.4(MLH1):c.2029A>T (p.Ser677Cys) rs587780681
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter) rs63749867
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2044_2045del (p.Met682fs) rs878853785
NM_000249.4(MLH1):c.2065C>A (p.Gln689Lys) rs41542214
NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.4(MLH1):c.2080_2081inv (p.Glu694Ser)
NM_000249.4(MLH1):c.2084C>G (p.Ser695Trp) rs63749995
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter) rs63750114
NM_000249.4(MLH1):c.2103+3A>G rs587778976
NM_000249.4(MLH1):c.210AGA[1] (p.Glu71del) rs63751642
NM_000249.4(MLH1):c.2110G>A (p.Val704Met) rs587781811
NM_000249.4(MLH1):c.2128A>G (p.Asn710Asp) rs1559595840
NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter) rs63750561
NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter) rs63750978
NM_000249.4(MLH1):c.214G>A (p.Asp72Asn) rs1553640187
NM_000249.4(MLH1):c.2155A>G (p.Ile719Val) rs754225520
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly) rs587778985
NM_000249.4(MLH1):c.2162A>C (p.Tyr721Ser) rs587778986
NM_000249.4(MLH1):c.2179_2182del (p.His727fs) rs267607898
NM_000249.4(MLH1):c.2187_2190dup (p.Pro731fs)
NM_000249.4(MLH1):c.2191C>T (p.Pro731Ser) rs876661188
NM_000249.4(MLH1):c.2192C>A (p.Pro731His) rs2148524373
NM_000249.4(MLH1):c.2194A>C (p.Lys732Gln) rs267607906
NM_000249.4(MLH1):c.2198A>G (p.His733Arg) rs770579083
NM_000249.4(MLH1):c.2227C>T (p.Leu743Phe) rs1575641138
NM_000249.4(MLH1):c.2239C>T (p.Pro747Ser) rs587779958
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.4(MLH1):c.2266_2269dup (p.Ter757LeuextTer?) rs267607892
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.4(MLH1):c.25C>G (p.Arg9Gly) rs587779000
NM_000249.4(MLH1):c.25C>T (p.Arg9Trp) rs587779000
NM_000249.4(MLH1):c.27G>A (p.Arg9=) rs759680369
NM_000249.4(MLH1):c.28C>T (p.Arg10Trp) rs1193754562
NM_000249.4(MLH1):c.292G>A (p.Gly98Ser) rs267607725
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.366_369del (p.Lys123fs)
NM_000249.4(MLH1):c.36C>G (p.Asp12Glu) rs587782181
NM_000249.4(MLH1):c.373G>A (p.Ala125Thr)
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) rs587779008
NM_000249.4(MLH1):c.37G>C (p.Glu13Gln) rs587779008
NM_000249.4(MLH1):c.380+2T>C rs267607742
NM_000249.4(MLH1):c.390C>G (p.Tyr130Ter) rs1060500689
NM_000249.4(MLH1):c.393del (p.Asp132fs) rs2081922847
NM_000249.4(MLH1):c.404_407del (p.Leu135fs) rs587779014
NM_000249.4(MLH1):c.410C>G (p.Ala137Gly)
NM_000249.4(MLH1):c.415C>G (p.Pro139Ala) rs779562531
NM_000249.4(MLH1):c.424T>C (p.Cys142Arg) rs780232692
NM_000249.4(MLH1):c.434A>G (p.Asn145Ser) rs1553642117
NM_000249.4(MLH1):c.439G>C (p.Gly147Arg) rs267607747
NM_000249.4(MLH1):c.453+1G>T rs267607750
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.466T>C (p.Phe156Leu) rs1060500691
NM_000249.4(MLH1):c.47T>G (p.Val16Gly) rs1553637237
NM_000249.4(MLH1):c.485G>A (p.Arg162Lys)
NM_000249.4(MLH1):c.508A>G (p.Ser170Gly) rs1287294691
NM_000249.4(MLH1):c.532G>A (p.Glu178Lys) rs1248251121
NM_000249.4(MLH1):c.589-1G>A rs587779027
NM_000249.4(MLH1):c.589-2A>G rs267607767
NM_000249.4(MLH1):c.589C>T (p.Gln197Ter) rs1553644123
NM_000249.4(MLH1):c.637G>T (p.Val213Leu) rs2308317
NM_000249.4(MLH1):c.668C>G (p.Ala223Gly) rs756045117
NM_000249.4(MLH1):c.670G>A (p.Val224Ile) rs1553644251
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.677+3A>G rs267607780
NM_000249.4(MLH1):c.677+3A>T rs267607780
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.70G>A (p.Val24Ile) rs1348994712
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.4(MLH1):c.755C>T (p.Ser252Leu) rs63750198
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000249.4(MLH1):c.790+2T>C rs267607790
NM_000249.4(MLH1):c.790+4A>G rs267607786
NM_000249.4(MLH1):c.790C>G (p.His264Asp) rs63751597
NM_000249.4(MLH1):c.791-2A>G rs267607794
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.848A>T (p.Tyr283Phe) rs201931669
NM_000249.4(MLH1):c.883A>G (p.Ser295Gly) rs63751598
NM_000249.4(MLH1):c.884+4A>G rs267607777
NM_000249.4(MLH1):c.885-2A>G rs267607805
NM_000249.4(MLH1):c.927dup (p.Thr310fs) rs1553647995
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000249.4(MLH1):c.940G>A (p.Val314Ile)
NM_000249.4(MLH1):c.941T>G (p.Val314Gly) rs2082977512
NM_000249.4(MLH1):c.954C>A (p.His318Gln) rs146777069
NM_000249.4(MLH1):c.973C>G (p.Arg325Gly)
NM_000249.4(MLH1):c.976G>T (p.Val326Leu) rs730881739
NM_000249.4(MLH1):c.986A>C (p.His329Pro) rs63750710
NM_000249.4(MLH1):c.986A>G (p.His329Arg) rs63750710
NM_000249.4(MLH1):c.9_21del (p.Phe3fs) rs1064795341
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg) rs63751004
NM_000251.3(MSH2):c.1019G>C (p.Arg340Thr) rs1673077413
NM_000251.3(MSH2):c.1023del (p.Val342fs) rs864622340
NM_000251.3(MSH2):c.1042C>T (p.Gln348Ter) rs979212552
NM_000251.3(MSH2):c.1042del (p.Gln348fs) rs1553353233
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg) rs773177076
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu) rs587779067
NM_000251.3(MSH2):c.1069G>C (p.Glu357Gln) rs587779069
NM_000251.3(MSH2):c.1074G>C (p.Glu358Asp) rs1477257356
NM_000251.3(MSH2):c.1076+1G>A rs267607940
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr) rs63751604
NM_000251.3(MSH2):c.1077-1G>C rs267607944
NM_000251.3(MSH2):c.1098_1099insTC (p.Val367fs)
NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter) rs730881755
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1191A>T (p.Gln397His) rs768694189
NM_000251.3(MSH2):c.11A>C (p.Gln4Pro) rs754562075
NM_000251.3(MSH2):c.1208A>G (p.Asp403Gly)
NM_000251.3(MSH2):c.1225C>G (p.Gln409Glu) rs151244108
NM_000251.3(MSH2):c.1226A>G (p.Gln409Arg)
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.3(MSH2):c.1237C>G (p.Gln413Glu) rs863225387
NM_000251.3(MSH2):c.1247_1257dup (p.Ala420fs) rs1553356720
NM_000251.3(MSH2):c.1255C>T (p.Gln419Ter) rs63750006
NM_000251.3(MSH2):c.1264G>A (p.Glu422Lys) rs63751712
NM_000251.3(MSH2):c.1269dup (p.His424fs) rs63751667
NM_000251.3(MSH2):c.1276+2T>C rs267607953
NM_000251.3(MSH2):c.1303G>C (p.Val435Leu) rs876658240
NM_000251.3(MSH2):c.1303G>T (p.Val435Phe) rs876658240
NM_000251.3(MSH2):c.1308dup (p.Val437fs) rs1060502035
NM_000251.3(MSH2):c.1309G>A (p.Val437Met) rs773956144
NM_000251.3(MSH2):c.1321A>T (p.Thr441Ser) rs587779086
NM_000251.3(MSH2):c.1331G>A (p.Arg444His) rs557339938
NM_000251.3(MSH2):c.1339_1340del (p.Phe447fs) rs1553361231
NM_000251.3(MSH2):c.136C>T (p.His46Tyr) rs1553348821
NM_000251.3(MSH2):c.1394A>G (p.Asn465Ser) rs1487094949
NM_000251.3(MSH2):c.1396C>G (p.His466Asp)
NM_000251.3(MSH2):c.1401del (p.Glu467fs) rs1553365711
NM_000251.3(MSH2):c.1427C>G (p.Pro476Arg)
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.3(MSH2):c.1453A>C (p.Met485Leu) rs775377647
NM_000251.3(MSH2):c.1476G>A (p.Met492Ile) rs1553365792
NM_000251.3(MSH2):c.1487T>C (p.Leu496Ser) rs587779093
NM_000251.3(MSH2):c.1510+2T>C rs1060502023
NM_000251.3(MSH2):c.1510G>T (p.Gly504Cys) rs63751600
NM_000251.3(MSH2):c.1511-2A>G rs267607962
NM_000251.3(MSH2):c.1520del (p.Pro507fs) rs1553366510
NM_000251.3(MSH2):c.1527dup (p.Gln510fs)
NM_000251.3(MSH2):c.1533T>G (p.Ile511Met) rs1553366529
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile) rs373564353
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs) rs63749930
NM_000251.3(MSH2):c.1553A>T (p.Gln518Leu)
NM_000251.3(MSH2):c.1562A>G (p.Tyr521Cys) rs879254040
NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter) rs63750330
NM_000251.3(MSH2):c.1577C>A (p.Thr526Asn) rs1204369578
NM_000251.3(MSH2):c.1578del (p.Cys527fs) rs63750738
NM_000251.3(MSH2):c.158C>T (p.Ala53Val)
NM_000251.3(MSH2):c.1613dup (p.Asn538fs)
NM_000251.3(MSH2):c.1617T>A (p.Phe539Leu) rs730881759
NM_000251.3(MSH2):c.1618A>G (p.Ser540Gly) rs1268933712
NM_000251.3(MSH2):c.1619G>C (p.Ser540Thr) rs1553366622
NM_000251.3(MSH2):c.161C>T (p.Ala54Val) rs768661914
NM_000251.3(MSH2):c.1625T>C (p.Val542Ala) rs1553366630
NM_000251.3(MSH2):c.1631T>C (p.Ile544Thr) rs587778524
NM_000251.3(MSH2):c.1642G>T (p.Gly548Cys) rs63750538
NM_000251.3(MSH2):c.1645G>A (p.Val549Ile) rs876659905
NM_000251.3(MSH2):c.166G>A (p.Glu56Lys) rs587779102
NM_000251.3(MSH2):c.166G>C (p.Glu56Gln) rs587779102
NM_000251.3(MSH2):c.1696A>C (p.Asn566His)
NM_000251.3(MSH2):c.1697del (p.Asn566fs) rs63750737
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.174C>A (p.Phe58Leu) rs372189599
NM_000251.3(MSH2):c.174C>G (p.Phe58Leu) rs372189599
NM_000251.3(MSH2):c.1765G>A (p.Val589Ile) rs1064793981
NM_000251.3(MSH2):c.1783C>T (p.Leu595Phe) rs1553368514
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter) rs63750047
NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly) rs267607985
NM_000251.3(MSH2):c.1813G>A (p.Val605Ile) rs730881777
NM_000251.3(MSH2):c.1828C>T (p.His610Tyr) rs267607980
NM_000251.3(MSH2):c.1850_1851dup (p.Pro618fs) rs1573566787
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.190A>G (p.Ile64Val) rs1166747167
NM_000251.3(MSH2):c.1916A>C (p.His639Pro) rs587779116
NM_000251.3(MSH2):c.1934A>C (p.Gln645Pro) rs1573567208
NM_000251.3(MSH2):c.1943T>C (p.Ile648Thr) rs763100088
NM_000251.3(MSH2):c.1945G>A (p.Ala649Thr) rs786201822
NM_000251.3(MSH2):c.1967A>C (p.Tyr656Ser) rs185356145
NM_000251.3(MSH2):c.1996A>G (p.Ile666Val) rs1667252115
NM_000251.3(MSH2):c.19G>C (p.Glu7Gln) rs375561490
NM_000251.3(MSH2):c.2006-2A>G rs267607991
NM_000251.3(MSH2):c.200T>A (p.Met67Lys) rs876660001
NM_000251.3(MSH2):c.2010dup (p.Asn671fs) rs63751123
NM_000251.3(MSH2):c.2032T>C (p.Tyr678His) rs876659093
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.203G>A (p.Gly68Glu) rs1064795914
NM_000251.3(MSH2):c.2041C>G (p.Gln681Glu) rs730881762
NM_000251.3(MSH2):c.2055A>G (p.Ile685Met) rs989001878
NM_000251.3(MSH2):c.2063T>C (p.Met688Thr) rs63749993
NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter) rs587779136
NM_000251.3(MSH2):c.211+1G>A
NM_000251.3(MSH2):c.211+3G>T rs778940305
NM_000251.3(MSH2):c.211+5G>A rs1060501999
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.212-1G>A rs267607914
NM_000251.3(MSH2):c.2120G>C (p.Cys707Ser) rs373226409
NM_000251.3(MSH2):c.2134G>A (p.Val712Ile) rs1573570391
NM_000251.3(MSH2):c.2150G>A (p.Ser717Asn) rs752883472
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.3(MSH2):c.2195C>T (p.Thr732Ile) rs730881765
NM_000251.3(MSH2):c.2211-10T>A rs267608006
NM_000251.3(MSH2):c.2236_2237dup (p.Ile747fs)
NM_000251.3(MSH2):c.2251G>A (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2258G>T (p.Gly753Val)
NM_000251.3(MSH2):c.2279T>C (p.Phe760Ser) rs1573573888
NM_000251.3(MSH2):c.2288C>T (p.Ala763Val) rs144412585
NM_000251.3(MSH2):c.2298A>G (p.Ile766Met) rs1064795116
NM_000251.3(MSH2):c.2312C>A (p.Ala771Glu)
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val) rs775464903
NM_000251.3(MSH2):c.2321T>G (p.Ile774Ser) rs878853811
NM_000251.3(MSH2):c.2342del (p.Ala781fs)
NM_000251.3(MSH2):c.2347C>T (p.His783Tyr) rs1553369748
NM_000251.3(MSH2):c.2354A>C (p.His785Pro) rs200252727
NM_000251.3(MSH2):c.2354A>G (p.His785Arg) rs200252727
NM_000251.3(MSH2):c.2363del (p.Thr788fs) rs2104405789
NM_000251.3(MSH2):c.2365del (p.Ala789fs)
NM_000251.3(MSH2):c.2366C>G (p.Ala789Gly) rs876660292
NM_000251.3(MSH2):c.2375A>T (p.Asn792Ile) rs587782891
NM_000251.3(MSH2):c.2386A>T (p.Thr796Ser) rs876660738
NM_000251.3(MSH2):c.2402A>G (p.His801Arg) rs1114167875
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter) rs202145681
NM_000251.3(MSH2):c.2435C>G (p.Thr812Ser) rs1553369826
NM_000251.3(MSH2):c.2453A>G (p.Lys818Arg)
NM_000251.3(MSH2):c.2462T>C (p.Val821Ala) rs1573578373
NM_000251.3(MSH2):c.247A>C (p.Met83Leu) rs766196837
NM_000251.3(MSH2):c.2488G>T (p.Val830Phe)
NM_000251.3(MSH2):c.249G>C (p.Met83Ile) rs1672552199
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs) rs63751447
NM_000251.3(MSH2):c.2503A>G (p.Asn835Asp) rs41295296
NM_000251.3(MSH2):c.2519T>C (p.Val840Ala) rs1064794561
NM_000251.3(MSH2):c.2522T>C (p.Ile841Thr) rs1275767178
NM_000251.3(MSH2):c.2525A>G (p.Glu842Gly) rs373393954
NM_000251.3(MSH2):c.2525_2526del (p.Glu842fs) rs587779148
NM_000251.3(MSH2):c.2554GAG[1] (p.Glu853del) rs766906365
NM_000251.3(MSH2):c.2573G>C (p.Gly858Ala)
NM_000251.3(MSH2):c.257A>G (p.Glu86Gly) rs1573436455
NM_000251.3(MSH2):c.2595_2597del (p.Ile865del) rs759912716
NM_000251.3(MSH2):c.2634+1G>A rs267608019
NM_000251.3(MSH2):c.2634+5G>C rs267608017
NM_000251.3(MSH2):c.2635-1G>A rs267608020
NM_000251.3(MSH2):c.2635-24A>G rs1667575488
NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter) rs63750808
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.2684C>T (p.Pro895Leu) rs786203553
NM_000251.3(MSH2):c.2693A>C (p.Glu898Ala) rs1060502037
NM_000251.3(MSH2):c.2697G>T (p.Met899Ile) rs878853813
NM_000251.3(MSH2):c.2725A>G (p.Lys909Glu) rs879254253
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile) rs34319539
NM_000251.3(MSH2):c.272A>C (p.Asp91Ala)
NM_000251.3(MSH2):c.272A>T (p.Asp91Val) rs876660914
NM_000251.3(MSH2):c.2804G>T (p.Ter935Leu) rs876658335
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.3(MSH2):c.320C>G (p.Ala107Gly) rs876658935
NM_000251.3(MSH2):c.320C>T (p.Ala107Val) rs876658935
NM_000251.3(MSH2):c.323G>T (p.Gly108Val) rs1183145967
NM_000251.3(MSH2):c.328A>C (p.Lys110Gln) rs587779970
NM_000251.3(MSH2):c.34dup (p.Glu12fs) rs63750614
NM_000251.3(MSH2):c.35A>C (p.Glu12Ala) rs1553348722
NM_000251.3(MSH2):c.363T>G (p.Tyr121Ter) rs63750458
NM_000251.3(MSH2):c.364A>G (p.Lys122Glu) rs374127044
NM_000251.3(MSH2):c.367-3T>A
NM_000251.3(MSH2):c.374C>T (p.Pro125Leu) rs876659113
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter) rs1060501989
NM_000251.3(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000251.3(MSH2):c.39C>G (p.Ser13Arg) rs1060502015
NM_000251.3(MSH2):c.403C>G (p.Leu135Val) rs193096019
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe) rs193096019
NM_000251.3(MSH2):c.448_449del (p.Gly149_Val150insTer)
NM_000251.3(MSH2):c.463del (p.Val155fs) rs1672664863
NM_000251.3(MSH2):c.464T>C (p.Val155Ala) rs876658188
NM_000251.3(MSH2):c.47A>C (p.Glu16Ala) rs745771647
NM_000251.3(MSH2):c.496G>C (p.Val166Leu)
NM_000251.3(MSH2):c.506_508delinsCAA (p.Ile169_Gln170delinsThrLys) rs2104027960
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer) rs587779164
NM_000251.3(MSH2):c.536C>T (p.Pro179Leu) rs902336078
NM_000251.3(MSH2):c.557A>C (p.Asn186Thr)
NM_000251.3(MSH2):c.560T>C (p.Leu187Pro) rs63751444
NM_000251.3(MSH2):c.562G>C (p.Glu188Gln) rs1064795622
NM_000251.3(MSH2):c.576C>G (p.Ile192Met) rs864622381
NM_000251.3(MSH2):c.58G>C (p.Val20Leu) rs1198168331
NM_000251.3(MSH2):c.592G>T (p.Glu198Ter) rs587779166
NM_000251.3(MSH2):c.646-2A>G rs587779169
NM_000251.3(MSH2):c.647T>C (p.Ile216Thr) rs786203108
NM_000251.3(MSH2):c.652C>A (p.Gln218Lys)
NM_000251.3(MSH2):c.66C>G (p.Phe22Leu) rs200632093
NM_000251.3(MSH2):c.687del (p.Ala230fs) rs63749897
NM_000251.3(MSH2):c.687dup (p.Ala230fs) rs63749897
NM_000251.3(MSH2):c.698C>G (p.Ser233Cys) rs587781724
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter) rs864622183
NM_000251.3(MSH2):c.751G>A (p.Glu251Lys) rs147389443
NM_000251.3(MSH2):c.755A>C (p.Gln252Pro) rs370906735
NM_000251.3(MSH2):c.784G>C (p.Glu262Gln) rs1553351739
NM_000251.3(MSH2):c.793-1G>A rs863225397
NM_000251.3(MSH2):c.793G>T (p.Val265Phe) rs1553352377
NM_000251.3(MSH2):c.7G>A (p.Val3Met) rs1257347271
NM_000251.3(MSH2):c.7G>T (p.Val3Leu) rs1257347271
NM_000251.3(MSH2):c.830T>G (p.Leu277Ter) rs786203424
NM_000251.3(MSH2):c.839dup (p.Leu280fs) rs63750091
NM_000251.3(MSH2):c.845_848del (p.Asp282fs) rs1553352462
NM_000251.3(MSH2):c.860dup (p.Gln288fs) rs193922375
NM_000251.3(MSH2):c.866_867dup (p.Glu290fs) rs1672951706
NM_000251.3(MSH2):c.868G>T (p.Glu290Ter) rs587779190
NM_000251.3(MSH2):c.870_874del (p.Glu290fs) rs1114167848
NM_000251.3(MSH2):c.876dup (p.Thr293fs) rs1553352505
NM_000251.3(MSH2):c.888C>G (p.Phe296Leu) rs876659918
NM_000251.3(MSH2):c.896A>G (p.Tyr299Cys) rs1558464315
NM_000251.3(MSH2):c.898A>G (p.Met300Val) rs730881753
NM_000251.3(MSH2):c.898_899dup (p.Met300fs) rs63750885
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu) rs757892928
NM_000251.3(MSH2):c.904T>A (p.Leu302Met) rs876660115
NM_000251.3(MSH2):c.932del (p.Asn311fs) rs587779979
NM_000251.3(MSH2):c.942+3A>C rs193922376
NM_000251.3(MSH2):c.942+3A>G rs193922376
NM_000251.3(MSH2):c.943-1G>T rs12476364
NM_000251.3(MSH2):c.959C>G (p.Thr320Ser) rs1064794010
NM_000251.3(MSH2):c.95C>T (p.Thr32Ile)
NM_000251.3(MSH2):c.965G>T (p.Gly322Val) rs4987188
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000535.7(PMS2):c.1067del (p.Lys356fs) rs587781395
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs) rs1583334346
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs) rs587779326
NM_000535.7(PMS2):c.1114G>A (p.Val372Ile) rs1554298669
NM_000535.7(PMS2):c.1119T>A (p.Ser373Arg) rs1060503147
NM_000535.7(PMS2):c.1130T>C (p.Leu377Pro) rs1583334040
NM_000535.7(PMS2):c.1145-5C>G
NM_000535.7(PMS2):c.1151T>A (p.Leu384Ter)
NM_000535.7(PMS2):c.1206del (p.Gln402fs) rs1562636427
NM_000535.7(PMS2):c.1214C>T (p.Ser405Leu) rs1554298036
NM_000535.7(PMS2):c.1233A>C (p.Glu411Asp) rs587780040
NM_000535.7(PMS2):c.1239del (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.1239dup (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.1247C>G (p.Ser416Cys) rs1554297981
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
NM_000535.7(PMS2):c.1262G>T (p.Arg421Leu) rs778482303
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser) rs876661186
NM_000535.7(PMS2):c.1303C>T (p.His435Tyr) rs148956636
NM_000535.7(PMS2):c.1345C>T (p.Gln449Ter) rs876661256
NM_000535.7(PMS2):c.1366del (p.Ser456fs) rs1583320992
NM_000535.7(PMS2):c.1418_1419del (p.Glu473fs) rs1783098862
NM_000535.7(PMS2):c.1447G>A (p.Asp483Asn) rs1583319965
NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys) rs876660060
NM_000535.7(PMS2):c.146C>G (p.Ala49Gly) rs786203255
NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)
NM_000535.7(PMS2):c.155C>G (p.Thr52Ser) rs1583418387
NM_000535.7(PMS2):c.155dup (p.Thr52_Asn53insTer)
NM_000535.7(PMS2):c.1568C>A (p.Ser523Tyr)
NM_000535.7(PMS2):c.1568C>G (p.Ser523Cys) rs1583318261
NM_000535.7(PMS2):c.1571dup (p.Gly525fs) rs1554297534
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs) rs1064793234
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup) rs587780043
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer) rs1554306288
NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys) rs557906137
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter) rs587778618
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg) rs869312801
NM_000535.7(PMS2):c.1709dup (p.Asn570fs) rs1783004175
NM_000535.7(PMS2):c.1733G>A (p.Arg578His) rs63750770
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1743del (p.Glu582fs) rs1057517801
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter) rs63750456
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter) rs1064793426
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_000535.7(PMS2):c.1842A>T (p.Lys614Asn)
NM_000535.7(PMS2):c.1844T>C (p.Val615Ala) rs1060503112
NM_000535.7(PMS2):c.1849C>T (p.Pro617Ser) rs864622096
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs) rs756358866
NM_000535.7(PMS2):c.1874T>C (p.Leu625Ser) rs63750835
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer) rs786203073
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter) rs1554297125
NM_000535.7(PMS2):c.190G>T (p.Asp64Tyr)
NM_000535.7(PMS2):c.1934A>G (p.Tyr645Cys) rs786203075
NM_000535.7(PMS2):c.1938del (p.Lys647fs) rs2128720948
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.1960C>G (p.Pro654Ala)
NM_000535.7(PMS2):c.1970del (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1975G>A (p.Ala659Thr) rs786203095
NM_000535.7(PMS2):c.1981G>T (p.Glu661Ter) rs778531080
NM_000535.7(PMS2):c.1985A>T (p.Asp662Val) rs1320079782
NM_000535.7(PMS2):c.1998A>T (p.Lys666Asn)
NM_000535.7(PMS2):c.2007-2A>G rs587782336
NM_000535.7(PMS2):c.2043G>C (p.Gln681His)
NM_000535.7(PMS2):c.2053G>A (p.Gly685Arg) rs1583299418
NM_000535.7(PMS2):c.2091A>G (p.Ile697Met) rs1554295855
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu) rs587780048
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser) rs587780049
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter) rs876659900
NM_000535.7(PMS2):c.2146A>G (p.Thr716Ala) rs772637411
NM_000535.7(PMS2):c.2168T>C (p.Leu723Pro) rs1246922900
NM_000535.7(PMS2):c.2174+6T>A rs587780050
NM_000535.7(PMS2):c.2175-1G>C rs1562605623
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2194A>G (p.Thr732Ala) rs587781958
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.2212_2213del (p.Val738fs)
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys) rs200824831
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn) rs762206330
NM_000535.7(PMS2):c.2275+1G>C rs1554294393
NM_000535.7(PMS2):c.23+1G>A rs587782074
NM_000535.7(PMS2):c.2314A>G (p.Thr772Ala)
NM_000535.7(PMS2):c.2315C>T (p.Thr772Ile) rs1781849852
NM_000535.7(PMS2):c.233A>G (p.Glu78Gly) rs2128829529
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs) rs267608160
NM_000535.7(PMS2):c.2365A>G (p.Met789Val) rs377259633
NM_000535.7(PMS2):c.2381C>G (p.Pro794Arg) rs876659030
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs) rs2128672594
NM_000535.7(PMS2):c.24-12_107delinsAAAT rs1554306445
NM_000535.7(PMS2):c.240C>G (p.Phe80Leu) rs143162541
NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter) rs2128672286
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.2438G>C (p.Arg813Pro)
NM_000535.7(PMS2):c.2445+1G>A rs876661113
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.250+4A>G rs1554304934
NM_000535.7(PMS2):c.2509A>G (p.Met837Val)
NM_000535.7(PMS2):c.250A>C (p.Thr84Pro) rs1554304938
NM_000535.7(PMS2):c.2516_2519del (p.His839fs)
NM_000535.7(PMS2):c.2543C>T (p.Pro848Leu) rs786201850
NM_000535.7(PMS2):c.2549T>C (p.Met850Thr)
NM_000535.7(PMS2):c.2554C>T (p.His852Tyr) rs754350493
NM_000535.7(PMS2):c.2560G>C (p.Ala854Pro) rs574371474
NM_000535.7(PMS2):c.256A>C (p.Lys86Gln) rs544441867
NM_000535.7(PMS2):c.269C>G (p.Ser90Cys) rs770678468
NM_000535.7(PMS2):c.296C>T (p.Thr99Ile) rs786202835
NM_000535.7(PMS2):c.304del (p.Glu102fs)
NM_000535.7(PMS2):c.307A>G (p.Thr103Ala)
NM_000535.7(PMS2):c.311T>C (p.Phe104Ser) rs876660295
NM_000535.7(PMS2):c.325dup (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr) rs587781913
NM_000535.7(PMS2):c.449C>G (p.Pro150Arg) rs778119115
NM_000535.7(PMS2):c.451C>G (p.Arg151Gly) rs758561884
NM_000535.7(PMS2):c.452G>C (p.Arg151Pro) rs35629870
NM_000535.7(PMS2):c.452_457delinsCCCCC (p.Arg151fs)
NM_000535.7(PMS2):c.478C>T (p.Gln160Ter) rs36038802
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter) rs1785199575
NM_000535.7(PMS2):c.51_55del (p.Ile18fs)
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter) rs1221485925
NM_000535.7(PMS2):c.537+1del rs1064793868
NM_000535.7(PMS2):c.538-4A>G
NM_000535.7(PMS2):c.538G>T (p.Glu180Ter)
NM_000535.7(PMS2):c.55G>C (p.Asp19His) rs1554306568
NM_000535.7(PMS2):c.564dup (p.His189fs)
NM_000535.7(PMS2):c.56A>G (p.Asp19Gly) rs1554306564
NM_000535.7(PMS2):c.572A>C (p.Tyr191Ser) rs375289386
NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)
NM_000535.7(PMS2):c.580A>G (p.Ile194Val) rs1554302492
NM_000535.7(PMS2):c.596G>T (p.Arg199Leu)
NM_000535.7(PMS2):c.615G>C (p.Gln205His) rs752499497
NM_000535.7(PMS2):c.629A>G (p.Lys210Arg)
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter) rs760228510
NM_000535.7(PMS2):c.641T>G (p.Val214Gly) rs864622706
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs) rs1784802468
NM_000535.7(PMS2):c.652G>C (p.Gly218Arg) rs878854055
NM_000535.7(PMS2):c.65C>A (p.Ser22Ter) rs767028531
NM_000535.7(PMS2):c.688G>A (p.Val230Met) rs1562677528
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter) rs587779343
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.717_723dup (p.Phe242fs) rs1583375182
NM_000535.7(PMS2):c.722C>T (p.Pro241Leu) rs1554301523
NM_000535.7(PMS2):c.746_753del (p.Asp249fs) rs587782710
NM_000535.7(PMS2):c.746_755del (p.Asp249fs)
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer) rs1064794905
NM_000535.7(PMS2):c.75G>C (p.Gln25His) rs1554306525
NM_000535.7(PMS2):c.75G>T (p.Gln25His) rs1554306525
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.770T>G (p.Leu257Trp) rs1554301463
NM_000535.7(PMS2):c.787C>G (p.Leu263Val) rs587779345
NM_000535.7(PMS2):c.79del (p.Cys27fs)
NM_000535.7(PMS2):c.7C>T (p.Arg3Ter) rs763939668
NM_000535.7(PMS2):c.803+1G>A rs1562669585
NM_000535.7(PMS2):c.803+1G>T rs1562669585
NM_000535.7(PMS2):c.803+3A>T
NM_000535.7(PMS2):c.804-1G>C
NM_000535.7(PMS2):c.817A>G (p.Ile273Val) rs587778621
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.82T>G (p.Ser28Ala) rs587781908
NM_000535.7(PMS2):c.841G>T (p.Gly281Ter)
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer) rs876658964
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu) rs201921616
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.868T>C (p.Phe290Leu) rs587782833
NM_000535.7(PMS2):c.874A>T (p.Ile292Phe) rs587781281
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
NM_000535.7(PMS2):c.895C>A (p.Pro299Thr) rs1562663421
NM_000535.7(PMS2):c.8G>T (p.Arg3Leu) rs375507981
NM_000535.7(PMS2):c.903+1G>A rs1554300689
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.91G>T (p.Val31Leu) rs786203763
NM_000535.7(PMS2):c.939T>A (p.Tyr313Ter) rs1562651617
NM_000535.7(PMS2):c.942T>A (p.Asn314Lys)
NM_000535.7(PMS2):c.948C>A (p.His316Gln) rs1219573982
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys) rs143277125
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter) rs143277125
NM_000535.7(PMS2):c.955C>T (p.Pro319Ser) rs1248142939
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_001040108.2(MLH3):c.3475G>C (p.Asp1159His) rs755836944

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