ClinVar Miner

List of variants in gene MLH1 reported as pathogenic by International Society for Gastrointestinal Hereditary Tumours (InSiGHT)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 500
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HGVS dbSNP
MLH1:c.(?_-198)_207+?del
MLH1:c.(?_-198)_306+?del
NM_000249.3(MLH1):c.(?_-198)_(*193_?)del
NM_000249.3(MLH1):c.(?_-198)_116+?del
NM_000249.3(MLH1):c.(?_-198)_1558+?del
NM_000249.3(MLH1):c.(?_-198)_545+?del
NM_000249.3(MLH1):c.(?_-198)_884+?del
NM_000249.3(MLH1):c.-381_207+606del
NM_000249.3(MLH1):c.-73960_*46597del
NM_000249.3(MLH1):c.1007del (p.Gly336fs) rs63750434
NM_000249.3(MLH1):c.100_101GA[1] (p.Glu34fs) rs63749813
NM_000249.3(MLH1):c.1011del (p.Asn338fs) rs63750677
NM_000249.3(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.3(MLH1):c.1017del (p.Ser340fs) rs63750339
NM_000249.3(MLH1):c.1023del (p.Met342fs) rs63749837
NM_000249.3(MLH1):c.1026dup (p.Tyr343fs) rs587778881
NM_000249.3(MLH1):c.1037A>G (p.Gln346Arg) rs63751609
NM_000249.3(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.3(MLH1):c.1038G>C (p.Gln346His) rs63751715
NM_000249.3(MLH1):c.1038G>T (p.Gln346His) rs63751715
NM_000249.3(MLH1):c.1039-1G>A rs267607819
NM_000249.3(MLH1):c.1039-2329_1409+827del
NM_000249.3(MLH1):c.1039-675_1409+26del
NM_000249.3(MLH1):c.1039-?_(*193_?)del
NM_000249.3(MLH1):c.1039-?_1409+?del
NM_000249.3(MLH1):c.1039-?_1558+?del
NM_000249.3(MLH1):c.1046dup (p.Pro350fs) rs267607822
NM_000249.3(MLH1):c.104T>G (p.Met35Arg) rs63749906
NM_000249.3(MLH1):c.104_105delinsAC (p.Met35Asn) rs121912965
NM_000249.3(MLH1):c.104_105insAA (p.Met35fs) rs587778882
NM_000249.3(MLH1):c.1050del (p.Gly351fs) rs587778883
NM_000249.3(MLH1):c.1061del (p.Gly354fs) rs63750472
NM_000249.3(MLH1):c.1071_1078del (p.Gly357_Glu358insTer) rs587778884
NM_000249.3(MLH1):c.1072del (p.Glu358fs) rs587778885
NM_000249.3(MLH1):c.109G>T (p.Glu37Ter) rs63751012
NM_000249.3(MLH1):c.1101del (p.Ser368fs) rs63750715
NM_000249.3(MLH1):c.1128_1129dup (p.Lys377fs) rs63750305
NM_000249.3(MLH1):c.112A>C (p.Asn38His) rs63750580
NM_000249.3(MLH1):c.1132_1134delinsA (p.Val378fs) rs587778887
NM_000249.3(MLH1):c.113A>G (p.Asn38Ser) rs587778888
NM_000249.3(MLH1):c.1145dup (p.Met383fs) rs587778889
NM_000249.3(MLH1):c.114C>G (p.Asn38Lys) rs267607706
NM_000249.3(MLH1):c.1150del (p.Val384fs) rs63749965
NM_000249.3(MLH1):c.116+5G>C rs267607710
NM_000249.3(MLH1):c.1163_1164ins4
NM_000249.3(MLH1):c.117-2A>G rs267607712
NM_000249.3(MLH1):c.117-691_306+1011del
NM_000249.3(MLH1):c.117-707_545+1338delinsTCCCGGGTTCAAGCGATTCT
NM_000249.3(MLH1):c.117-?_207+?del
NM_000249.3(MLH1):c.117-?_380+?del
NM_000249.3(MLH1):c.117-?_545+?del
NM_000249.3(MLH1):c.1171C>T (p.Gln391Ter) rs587778894
NM_000249.3(MLH1):c.1190del (p.Leu397fs) rs63750749
NM_000249.3(MLH1):c.1192C>T (p.Gln398Ter) rs63750483
NM_000249.3(MLH1):c.119del (p.Cys39_Leu40insTer) rs587778896
NM_000249.3(MLH1):c.1210_1211del (p.Leu404fs) rs63751015
NM_000249.3(MLH1):c.1210dup (p.Leu404fs) rs587778898
NM_000249.3(MLH1):c.1217_1223dup (p.Gln409fs) rs587778899
NM_000249.3(MLH1):c.1218del (p.Gln407fs) rs587778900
NM_000249.3(MLH1):c.121G>C (p.Asp41His) rs267607713
NM_000249.3(MLH1):c.1225C>T (p.Gln409Ter) rs63751153
NM_000249.3(MLH1):c.122A>G (p.Asp41Gly) rs63751094
NM_000249.3(MLH1):c.1252_1253del (p.Asp418fs) rs63751118
NM_000249.3(MLH1):c.1261del (p.Ser421fs) rs63750293
NM_000249.3(MLH1):c.1276C>T (p.Gln426Ter) rs63750316
NM_000249.3(MLH1):c.128_131dup (p.Thr45fs) rs63751431
NM_000249.3(MLH1):c.1310del (p.Pro437fs) rs63750748
NM_000249.3(MLH1):c.131C>T (p.Ser44Phe) rs63751109
NM_000249.3(MLH1):c.1325_1346del22ins5
NM_000249.3(MLH1):c.1334del (p.Gln445fs) rs63749845
NM_000249.3(MLH1):c.1343del (p.Glu448fs) rs63749981
NM_000249.3(MLH1):c.1347_1367delinsTAAA (p.Asp450fs) rs587778905
NM_000249.3(MLH1):c.1348dup (p.Asp450fs) rs587778906
NM_000249.3(MLH1):c.1354del (p.Thr452fs) rs63750071
NM_000249.3(MLH1):c.1362del (p.Thr455fs) rs267607821
NM_000249.3(MLH1):c.1362dup (p.Thr455fs) rs267607821
NM_000249.3(MLH1):c.1377del (p.Glu460fs) rs587778908
NM_000249.3(MLH1):c.1377dup (p.Glu460fs) rs63750020
NM_000249.3(MLH1):c.1378_1379GA[1] (p.Lys461fs) rs587778909
NM_000249.3(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.3(MLH1):c.1398del (p.Ser467fs) rs63750713
NM_000249.3(MLH1):c.1409+1127_1558+4255del
NM_000249.3(MLH1):c.1409+1156_1558+1385del
NM_000249.3(MLH1):c.1409+1G>C rs267607825
NM_000249.3(MLH1):c.1410-?_(*193_?)del
NM_000249.3(MLH1):c.1410-?_1558+?del
NM_000249.3(MLH1):c.1410-?_1731+?del
NM_000249.3(MLH1):c.1411_1414delAAGA rs63751592
NM_000249.3(MLH1):c.1412dup (p.Arg472fs) rs63751677
NM_000249.3(MLH1):c.1413_1414GA[1] (p.Arg472fs) rs281864936
NM_000249.3(MLH1):c.1413_1416del (p.Lys471fs) rs281864936
NM_000249.3(MLH1):c.1414dup (p.Arg472fs) rs63751468
NM_000249.3(MLH1):c.1415_1427del (p.Arg472fs) rs587778912
NM_000249.3(MLH1):c.1420del (p.Arg474fs) rs63750482
NM_000249.3(MLH1):c.142C>T (p.Gln48Ter) rs587778913
NM_000249.3(MLH1):c.1449del (p.Asp484fs) rs587778915
NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.3(MLH1):c.1462A>T (p.Lys488Ter) rs587778918
NM_000249.3(MLH1):c.1463del (p.Lys488fs) rs63749876
NM_000249.3(MLH1):c.1464_1468del (p.Lys488fs) rs587778919
NM_000249.3(MLH1):c.146T>A (p.Val49Glu) rs63750098
NM_000249.3(MLH1):c.1489del (p.Arg497fs) rs63750855
NM_000249.3(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.3(MLH1):c.1491del (p.Arg498fs) rs63751435
NM_000249.3(MLH1):c.150dup (p.Val51fs) rs63749956
NM_000249.3(MLH1):c.1520del (p.Val506_Leu507insTer) rs63749916
NM_000249.3(MLH1):c.1520dup (p.Leu507fs) rs63749916
NM_000249.3(MLH1):c.1528C>T (p.Gln510Ter) rs63749923
NM_000249.3(MLH1):c.1534G>T (p.Glu512Ter) rs63751472
NM_000249.3(MLH1):c.153dup (p.Lys52Ter) rs587778922
NM_000249.3(MLH1):c.1542dup (p.Glu515Ter) rs63750317
NM_000249.3(MLH1):c.1549G>T (p.Gly517Ter) rs63751705
NM_000249.3(MLH1):c.1552_1553insT (p.His518fs) rs587778924
NM_000249.3(MLH1):c.1552del (p.His518fs) rs587778925
NM_000249.3(MLH1):c.1554dup (p.Glu519Ter) rs63751689
NM_000249.3(MLH1):c.1557_1558insT (p.Val520fs) rs587778926
NM_000249.3(MLH1):c.1558+1G>T rs267607832
NM_000249.3(MLH1):c.1559-1322_1668-391del
NM_000249.3(MLH1):c.1559-1G>T rs267607837
NM_000249.3(MLH1):c.1559-2A>G rs267607836
NM_000249.3(MLH1):c.1559-2A>T rs267607836
NM_000249.3(MLH1):c.1559-?_(*193_?)del
NM_000249.3(MLH1):c.1559-?_1667+?del
NM_000249.3(MLH1):c.1559-?_1731+?del
NM_000249.3(MLH1):c.155_158del (p.Lys52fs) rs587778923
NM_000249.3(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.3(MLH1):c.156dup (p.Glu53fs) rs63750028
NM_000249.3(MLH1):c.1572_1573del (p.Met524fs) rs587778928
NM_000249.3(MLH1):c.1573_1574del (p.Leu525fs) rs63751613
NM_000249.3(MLH1):c.1574T>A (p.Leu525Ter) rs587778929
NM_000249.3(MLH1):c.157_160GAGG[1] (p.Gly54fs) rs587778932
NM_000249.3(MLH1):c.1588_1590del (p.Phe530del) rs587778930
NM_000249.3(MLH1):c.1592_1593del (p.Val531fs) rs587778931
NM_000249.3(MLH1):c.15_28del (p.Gly6fs) rs63751891
NM_000249.3(MLH1):c.1609C>T (p.Gln537Ter) rs63751277
NM_000249.3(MLH1):c.1613G>A (p.Trp538Ter) rs587778933
NM_000249.3(MLH1):c.1614G>A (p.Trp538Ter) rs267607842
NM_000249.3(MLH1):c.161del (p.Gly54fs) rs63751266
NM_000249.3(MLH1):c.1620_1621del (p.Leu540fs) rs63750036
NM_000249.3(MLH1):c.1622del (p.Ala541fs) rs63750824
NM_000249.3(MLH1):c.1624C>T (p.Gln542Ter) rs63750192
NM_000249.3(MLH1):c.1639_1643dup (p.Leu549fs) rs587778934
NM_000249.3(MLH1):c.1640T>A (p.Leu547Ter) rs63750300
NM_000249.3(MLH1):c.1644C>G (p.Tyr548Ter) rs63751087
NM_000249.3(MLH1):c.1649T>C (p.Leu550Pro) rs63750193
NM_000249.3(MLH1):c.1664_1665insAAGT (p.Ser556_Glu557insTer) rs267607699
NM_000249.3(MLH1):c.1667+2_1667+8delinsATTT rs587778938
NM_000249.3(MLH1):c.1667G>T (p.Ser556Ile) rs63751596
NM_000249.3(MLH1):c.1668-?_1731+?del
NM_000249.3(MLH1):c.1668-?_1896+?del
NM_000249.3(MLH1):c.1668del (p.Ser556fs) rs587778939
NM_000249.3(MLH1):c.1669G>T (p.Glu557Ter) rs63751244
NM_000249.3(MLH1):c.1672G>T (p.Glu558Ter) rs63751081
NM_000249.3(MLH1):c.1683C>G (p.Tyr561Ter) rs63751393
NM_000249.3(MLH1):c.1684C>T (p.Gln562Ter) rs63751460
NM_000249.3(MLH1):c.1689dup (p.Leu564fs) rs63750464
NM_000249.3(MLH1):c.1690_1693del (p.Leu564fs) rs267607849
NM_000249.3(MLH1):c.1715_1716GT[1] (p.Val573fs) rs63751709
NM_000249.3(MLH1):c.1725del (p.Arg575fs) rs63751685
NM_000249.3(MLH1):c.1731+1G>A rs267607853
NM_000249.3(MLH1):c.1731+270_1896+73del
NM_000249.3(MLH1):c.1731+5G>A rs267607850
NM_000249.3(MLH1):c.1731+768_1897-222del
NM_000249.3(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.3(MLH1):c.1732-1G>A rs267607854
NM_000249.3(MLH1):c.1732-2243_1896+404del
NM_000249.3(MLH1):c.1732-2A>T rs267607852
NM_000249.3(MLH1):c.1732-?_(*193_?)del
NM_000249.3(MLH1):c.1732-?_1896+?del
NM_000249.3(MLH1):c.1732-?_2103+?del
NM_000249.3(MLH1):c.1745T>C (p.Leu582Pro) rs63751616
NM_000249.3(MLH1):c.1745del (p.Leu582fs) rs587778942
NM_000249.3(MLH1):c.1748_1749del (p.Leu582_Phe583insTer) rs63750309
NM_000249.3(MLH1):c.1749del (p.Phe583fs) rs63750309
NM_000249.3(MLH1):c.1758del (p.Met587fs) rs63749863
NM_000249.3(MLH1):c.1758dup (p.Met587fs) rs63749863
NM_000249.3(MLH1):c.175dup (p.Ile59fs) rs587778944
NM_000249.3(MLH1):c.1764del (p.Ala589fs) rs63751486
NM_000249.3(MLH1):c.1769del (p.Ala589_Leu590insTer) rs63749979
NM_000249.3(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
NM_000249.3(MLH1):c.1778_1779del (p.Pro593fs) rs63750375
NM_000249.3(MLH1):c.1779_1780AG[2] (p.Ser595fs) rs63750035
NM_000249.3(MLH1):c.1790G>A (p.Trp597Ter) rs63750604
NM_000249.3(MLH1):c.1800_1818del (p.Glu600fs) rs587778946
NM_000249.3(MLH1):c.1810A>T (p.Lys604Ter) rs63750386
NM_000249.3(MLH1):c.1812dup (p.Glu605fs) rs63751240
NM_000249.3(MLH1):c.1821dup (p.Ala608fs) rs587778947
NM_000249.3(MLH1):c.1829_1832dup (p.Val612fs) rs587778948
NM_000249.3(MLH1):c.1831_1832del (p.Ile611fs) rs63750150
NM_000249.3(MLH1):c.1846_1848AAG[2] (p.Lys618del) rs63751247
NM_000249.3(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.3(MLH1):c.1852A>T (p.Lys618Ter) rs35001569
NM_000249.3(MLH1):c.1853delinsTTCTT (p.Lys618fs) rs587778949
NM_000249.3(MLH1):c.1855del (p.Ala619fs) rs63749986
NM_000249.3(MLH1):c.1865T>A (p.Leu622His) rs63750693
NM_000249.3(MLH1):c.1865T>C (p.Leu622Pro) rs63750693
NM_000249.3(MLH1):c.1866del (p.Ala623fs) rs587778950
NM_000249.3(MLH1):c.1875T>G (p.Tyr625Ter) rs63751415
NM_000249.3(MLH1):c.1877_1883del (p.Phe626fs) rs63751594
NM_000249.3(MLH1):c.1877del (p.Phe626fs) rs63750152
NM_000249.3(MLH1):c.1880_1883del (p.Ser627fs) rs587778953
NM_000249.3(MLH1):c.1884_1888del (p.Leu628fs) rs63751639
NM_000249.3(MLH1):c.1893del (p.Asp631fs) rs587778954
NM_000249.3(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.3(MLH1):c.1897-?_1989+?del
NM_000249.3(MLH1):c.189C>A (p.Asp63Glu) rs587778955
NM_000249.3(MLH1):c.18_34del (p.Val7fs) rs63751892
NM_000249.3(MLH1):c.1902del (p.Asn635fs) rs587778956
NM_000249.3(MLH1):c.1904dup (p.Asn635fs) rs587778957
NM_000249.3(MLH1):c.190_191del (p.Asn64fs) rs63750469
NM_000249.3(MLH1):c.1913_1926dup (p.Ile643delinsAspTyrProPheTer) rs587778958
NM_000249.3(MLH1):c.1914_1942dup (p.Pro648delinsHisTyrProPheTer) rs587778959
NM_000249.3(MLH1):c.1916dup (p.Leu639fs) rs587778960
NM_000249.3(MLH1):c.191dup (p.Asn64fs) rs63751255
NM_000249.3(MLH1):c.1920_1921insT (p.Leu641fs) rs587778961
NM_000249.3(MLH1):c.1930del (p.Asp644fs) rs587778962
NM_000249.3(MLH1):c.1942C>T (p.Pro648Ser) rs63750899
NM_000249.3(MLH1):c.1946del (p.Pro649fs) rs281864938
NM_000249.3(MLH1):c.1953_1956del (p.Glu651fs) rs63751301
NM_000249.3(MLH1):c.195del (p.Thr66fs) rs267607715
NM_000249.3(MLH1):c.1961C>T (p.Pro654Leu) rs63750726
NM_000249.3(MLH1):c.1971del (p.Leu658fs) rs63750115
NM_000249.3(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.3(MLH1):c.1975_1976del (p.Arg659fs) rs63750131
NM_000249.3(MLH1):c.1976G>C (p.Arg659Pro) rs63749900
NM_000249.3(MLH1):c.1976G>T (p.Arg659Leu) rs63749900
NM_000249.3(MLH1):c.1976_1977del (p.Arg659fs) rs63751200
NM_000249.3(MLH1):c.1986_1989+1delinsC rs267607873
NM_000249.3(MLH1):c.1988del (p.Glu663fs) rs267607877
NM_000249.3(MLH1):c.1989+1G>A rs267607879
NM_000249.3(MLH1):c.1989+1G>T rs267607879
NM_000249.3(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.3(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.3(MLH1):c.198dup (p.Gly67fs) rs587778966
NM_000249.3(MLH1):c.1990-1G>A rs267607884
NM_000249.3(MLH1):c.1990-2A>G rs267607883
NM_000249.3(MLH1):c.1990-?_(*193_?)del
NM_000249.3(MLH1):c.1998G>A (p.Trp666Ter) rs63750639
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.199G>T (p.Gly67Trp) rs63750206
NM_000249.3(MLH1):c.19_35del (p.Val7fs) rs267607702
NM_000249.3(MLH1):c.1A>G (p.Met1Val) rs587778967
NM_000249.3(MLH1):c.2000dup (p.Asp667fs) rs63750282
NM_000249.3(MLH1):c.2006_2010del (p.Glu669fs) rs63750061
NM_000249.3(MLH1):c.2009del (p.Lys670fs) rs63750740
NM_000249.3(MLH1):c.200G>A (p.Gly67Glu) rs63749939
NM_000249.3(MLH1):c.2011G>T (p.Glu671Ter) rs63750663
NM_000249.3(MLH1):c.201del (p.Ile68fs) rs587778968
NM_000249.3(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.3(MLH1):c.2040C>A (p.Cys680Ter) rs63749867
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.205del (p.Arg69fs) rs63751704
NM_000249.3(MLH1):c.2067_2073del (p.Gln689fs) rs63750420
NM_000249.3(MLH1):c.207+1245_884+523dup
NM_000249.3(MLH1):c.207+1560_546-871del
NM_000249.3(MLH1):c.2076_2077del (p.Glu693fs) rs63750769
NM_000249.3(MLH1):c.2078_2172del (p.Glu693fs)
NM_000249.3(MLH1):c.208-1714_306+641delinsACATAGTA
NM_000249.3(MLH1):c.208-1G>A rs267607717
NM_000249.3(MLH1):c.208-1_208del rs587778973
NM_000249.3(MLH1):c.208-2A>G rs267607716
NM_000249.3(MLH1):c.208-?_306+?del
NM_000249.3(MLH1):c.208-?_453+?del
NM_000249.3(MLH1):c.208-?_545+?del
NM_000249.3(MLH1):c.208-?_790+?del
NM_000249.3(MLH1):c.2084C>A (p.Ser695Ter) rs63749995
NM_000249.3(MLH1):c.2090_2091TC[1] (p.Ser698fs) rs63750859
NM_000249.3(MLH1):c.2093C>G (p.Ser698Ter) rs587778975
NM_000249.3(MLH1):c.2099_2102del (p.Gln700fs) rs63751652
NM_000249.3(MLH1):c.2101C>T (p.Gln701Ter) rs63750114
NM_000249.3(MLH1):c.2103+1G>A rs267607888
NM_000249.3(MLH1):c.2103G>C (p.Gln701His) rs63750603
NM_000249.3(MLH1):c.2104-2A>T rs267607889
NM_000249.3(MLH1):c.2104-?_*(193_?)del
NM_000249.3(MLH1):c.2104_2105delAG rs63751651
NM_000249.3(MLH1):c.2105_2114del (p.Ser702fs) rs587778979
NM_000249.3(MLH1):c.210_212AGA[1] (p.Glu71del) rs63751642
NM_000249.3(MLH1):c.210_213delAGAA rs267607723
NM_000249.3(MLH1):c.2111_2117del (p.Val704fs) rs587778980
NM_000249.3(MLH1):c.211G>T (p.Glu71Ter) rs63749829
NM_000249.3(MLH1):c.2135G>A (p.Trp712Ter) rs63750561
NM_000249.3(MLH1):c.2136G>A (p.Trp712Ter) rs63750499
NM_000249.3(MLH1):c.2141G>A (p.Trp714Ter) rs63751022
NM_000249.3(MLH1):c.2145_2146TG[1] (p.Val716fs) rs587778981
NM_000249.3(MLH1):c.2149_2195dup (p.His733fs) rs587778982
NM_000249.3(MLH1):c.2152_2153CA[1] (p.Ile719fs) rs63750971
NM_000249.3(MLH1):c.2152_2153CA[3] (p.Ile719fs) rs63750971
NM_000249.3(MLH1):c.2157dup (p.Val720fs) rs587778984
NM_000249.3(MLH1):c.2163T>A (p.Tyr721Ter) rs63750484
NM_000249.3(MLH1):c.2177_2178CA[1] (p.His727fs) rs267607898
NM_000249.3(MLH1):c.2177_2178CA[2] (p.Ile728fs) rs267607898
NM_000249.3(MLH1):c.2194A>T (p.Lys732Ter) rs267607906
NM_000249.3(MLH1):c.2195_2198dup (p.His733fs) rs267607903
NM_000249.3(MLH1):c.2218dup (p.Ile740fs) rs587778989
NM_000249.3(MLH1):c.2221_2224delCTGCins30 (p.?)
NM_000249.3(MLH1):c.2223_2233del (p.Gln742fs) rs267607897
NM_000249.3(MLH1):c.2224C>T (p.Gln742Ter) rs587778992
NM_000249.3(MLH1):c.2224del (p.Gln742fs) rs267607896
NM_000249.3(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.3(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.3(MLH1):c.2263A>G (p.Arg755Gly) rs267607900
NM_000249.3(MLH1):c.2266_2269dup (p.Ter757LeuextTer?) rs267607892
NM_000249.3(MLH1):c.2269dup (p.Ter757LeuextTer?) rs1553666143
NM_000249.3(MLH1):c.229T>C (p.Cys77Arg) rs63749859
NM_000249.3(MLH1):c.229_230TG[1] (p.Cys77_Glu78delinsTer) rs63750052
NM_000249.3(MLH1):c.22dup (p.Ile8fs) rs587778996
NM_000249.3(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.3(MLH1):c.232del (p.Glu78fs) rs587778997
NM_000249.3(MLH1):c.244dup (p.Thr82fs) rs267607729
NM_000249.3(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.3(MLH1):c.256C>T (p.Gln86Ter) rs63751421
NM_000249.3(MLH1):c.261del (p.Phe88fs) rs267607728
NM_000249.3(MLH1):c.265G>T (p.Glu89Ter) rs11541859
NM_000249.3(MLH1):c.298C>T (p.Arg100Ter) rs63751221
NM_000249.3(MLH1):c.299G>C (p.Arg100Pro) rs63750266
NM_000249.3(MLH1):c.2T>A (p.Met1Lys) rs111052004
NM_000249.3(MLH1):c.2T>C (p.Met1Thr) rs111052004
NM_000249.3(MLH1):c.2T>G (p.Met1Arg) rs111052004
NM_000249.3(MLH1):c.306+1G>A rs267607734
NM_000249.3(MLH1):c.306+2dup rs267607738
NM_000249.3(MLH1):c.306+5G>A rs267607735
NM_000249.3(MLH1):c.306G>C (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.307-1420_380+624del
NM_000249.3(MLH1):c.307-245_454-365del
NM_000249.3(MLH1):c.307-797_677+1061del
NM_000249.3(MLH1):c.307-820_380+896del
NM_000249.3(MLH1):c.307-?_(*193_?)del
NM_000249.3(MLH1):c.307-?_545+?del
NM_000249.3(MLH1):c.31del (p.Leu11fs) rs63749816
NM_000249.3(MLH1):c.320T>G (p.Ile107Arg) rs63750507
NM_000249.3(MLH1):c.341del (p.Thr114fs) rs63750645
NM_000249.3(MLH1):c.346del (p.Thr116fs) rs63750906
NM_000249.3(MLH1):c.346dup (p.Thr116fs) rs267607739
NM_000249.3(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.3(MLH1):c.354_355dup (p.Thr119fs) rs63750658
NM_000249.3(MLH1):c.367A>T (p.Lys123Ter) rs63750542
NM_000249.3(MLH1):c.370_371TG[1] (p.Ala125fs) rs587779006
NM_000249.3(MLH1):c.378C>G (p.Tyr126Ter) rs63751606
NM_000249.3(MLH1):c.378del (p.Ala125_Tyr126insTer) rs63751607
NM_000249.3(MLH1):c.37G>T (p.Glu13Ter) rs587779008
NM_000249.3(MLH1):c.37_38GA[3] (p.Thr14fs) rs587779013
NM_000249.3(MLH1):c.37del (p.Glu13fs) rs63750081
NM_000249.3(MLH1):c.380+2T>A rs267607742
NM_000249.3(MLH1):c.380G>A (p.Arg127Lys) rs63751595
NM_000249.3(MLH1):c.381-415_453+733del
NM_000249.3(MLH1):c.381-?_545+?del
NM_000249.3(MLH1):c.382G>C (p.Ala128Pro) rs63750866
NM_000249.3(MLH1):c.382_402delinsT (p.Ala128fs) rs267607746
NM_000249.3(MLH1):c.382del (p.Ala128fs) rs63750865
NM_000249.3(MLH1):c.385_386delinsGTT (p.Ser129fs) rs63751710
NM_000249.3(MLH1):c.388del (p.Tyr130fs) rs587779009
NM_000249.3(MLH1):c.389del (p.Tyr130fs) rs587779012
NM_000249.3(MLH1):c.38_39insCCCA (p.Glu13fs) rs63750057
NM_000249.3(MLH1):c.392C>A (p.Ser131Ter) rs63749818
NM_000249.3(MLH1):c.397G>T (p.Gly133Ter) rs63751124
NM_000249.3(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.3(MLH1):c.404_407del (p.Leu135fs) rs587779014
NM_000249.3(MLH1):c.420del (p.Lys140fs) rs587779015
NM_000249.3(MLH1):c.428dup (p.Gly144fs) rs63751045
NM_000249.3(MLH1):c.436C>T (p.Gln146Ter) rs63749820
NM_000249.3(MLH1):c.445C>T (p.Gln149Ter) rs63751302
NM_000249.3(MLH1):c.44dup (p.Val16fs) rs63751131
NM_000249.3(MLH1):c.453+2T>C rs267607751
NM_000249.3(MLH1):c.454-1G>A rs193922370
NM_000249.3(MLH1):c.454-432_546-1030del
NM_000249.3(MLH1):c.454-466_546-1062del
NM_000249.3(MLH1):c.454-505_546-1102del
NM_000249.3(MLH1):c.454-665_545+49del rs1553642492
NM_000249.3(MLH1):c.454-?_545+?del
NM_000249.3(MLH1):c.464T>G (p.Leu155Arg) rs63750891
NM_000249.3(MLH1):c.468_469del (p.Phe156fs) rs63751101
NM_000249.3(MLH1):c.488del (p.Arg163fs) rs267607754
NM_000249.3(MLH1):c.497T>A (p.Leu166Ter) rs267607755
NM_000249.3(MLH1):c.497del (p.Ala165_Leu166insTer) rs587779018
NM_000249.3(MLH1):c.502_503del (p.Asn168fs) rs63749959
NM_000249.3(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000249.3(MLH1):c.513del (p.Glu172fs) rs63749944
NM_000249.3(MLH1):c.524_525insGA (p.Ile176fs) rs587779019
NM_000249.3(MLH1):c.52del (p.Arg18fs) rs63749804
NM_000249.3(MLH1):c.531_532delinsAT (p.Glu178Ter) rs63750903
NM_000249.3(MLH1):c.531_532delinsCT (p.Leu177_Glu178delinsPheTer) rs63750903
NM_000249.3(MLH1):c.543C>T (p.Gly181=) rs1481129490
NM_000249.3(MLH1):c.544A>G (p.Arg182Gly) rs63750211
NM_000249.3(MLH1):c.545+3A>G rs267607760
NM_000249.3(MLH1):c.545G>A (p.Arg182Lys) rs587779021
NM_000249.3(MLH1):c.546-2A>C rs267607759
NM_000249.3(MLH1):c.546-2A>G rs267607759
NM_000249.3(MLH1):c.546-361_885-811del
NM_000249.3(MLH1):c.546-?_1409+?dup
NM_000249.3(MLH1):c.546-?_677+?del
NM_000249.3(MLH1):c.546-?_790+?del
NM_000249.3(MLH1):c.554T>G (p.Val185Gly) rs63750515
NM_000249.3(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.3(MLH1):c.578C>G (p.Ser193Ter) rs63751480
NM_000249.3(MLH1):c.586A>T (p.Lys196Ter) rs63750500
NM_000249.3(MLH1):c.588+1G>T rs267607772
NM_000249.3(MLH1):c.588+5G>A rs267607768
NM_000249.3(MLH1):c.588del (p.Lys196fs) rs63751653
NM_000249.3(MLH1):c.589-2A>G rs267607767
NM_000249.3(MLH1):c.593_594GA[2] (p.Glu199fs) rs63751637
NM_000249.3(MLH1):c.5C>A (p.Ser2Ter) rs587779029
NM_000249.3(MLH1):c.61del (p.Ala21fs) rs63750581
NM_000249.3(MLH1):c.62C>A (p.Ala21Glu) rs63750706
NM_000249.3(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.3(MLH1):c.632_633insT (p.Thr212fs) rs63750908
NM_000249.3(MLH1):c.649del (p.Arg217fs) rs63750380
NM_000249.3(MLH1):c.665del (p.Asn222fs) rs63750385
NM_000249.3(MLH1):c.665dup (p.Asn222fs) rs63750385
NM_000249.3(MLH1):c.672del (p.Ser225fs) rs587779031
NM_000249.3(MLH1):c.673_676del (p.Ser225fs) rs267607774
NM_000249.3(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.3(MLH1):c.677+1G>T rs267607778
NM_000249.3(MLH1):c.677+3A>G rs267607780
NM_000249.3(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.3(MLH1):c.677_677+1delinsAT rs587779032
NM_000249.3(MLH1):c.678-1G>C rs267607784
NM_000249.3(MLH1):c.678-3_678-2del rs267607783
NM_000249.3(MLH1):c.678-9_693del rs587779036
NM_000249.3(MLH1):c.678-?_1558+?del
NM_000249.3(MLH1):c.678-?_884+?del
NM_000249.3(MLH1):c.67G>T (p.Glu23Ter) rs63750823
NM_000249.3(MLH1):c.67del (p.Glu23fs) rs63750822
NM_000249.3(MLH1):c.683dup (p.Ile229fs) rs63751659
NM_000249.3(MLH1):c.693del (p.Ile231fs) rs63750764
NM_000249.3(MLH1):c.70del (p.Val24fs) rs63751396
NM_000249.3(MLH1):c.723_726AATG[1] (p.Asn243fs) rs267607787
NM_000249.3(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.3(MLH1):c.731_734del (p.Gly244fs) rs587779037
NM_000249.3(MLH1):c.739T>C (p.Ser247Pro) rs63750948
NM_000249.3(MLH1):c.73del (p.Ile25fs) rs63749839
NM_000249.3(MLH1):c.745dup (p.Ala249fs) rs63750819
NM_000249.3(MLH1):c.76C>T (p.Gln26Ter) rs63749827
NM_000249.3(MLH1):c.76del (p.Gln26fs) rs63749828
NM_000249.3(MLH1):c.779T>G (p.Leu260Arg) rs63751283
NM_000249.3(MLH1):c.782_784TCA[1] (p.Ile262del) rs587779039
NM_000249.3(MLH1):c.78del (p.Gln26fs) rs587779040
NM_000249.3(MLH1):c.790+1G>A rs267607789
NM_000249.3(MLH1):c.790+1del rs267607798
NM_000249.3(MLH1):c.790+2T>A rs267607790
NM_000249.3(MLH1):c.790+2T>C rs267607790
NM_000249.3(MLH1):c.790+2dup rs267607791
NM_000249.3(MLH1):c.790+5G>T rs267607771
NM_000249.3(MLH1):c.791-1G>C rs267607795
NM_000249.3(MLH1):c.791-4_795del rs587779041
NM_000249.3(MLH1):c.791-5T>G rs267607788
NM_000249.3(MLH1):c.791-?_1558+?del
NM_000249.3(MLH1):c.791-?_884+?del
NM_000249.3(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.3(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.3(MLH1):c.808_811del (p.Thr270fs) rs267607801
NM_000249.3(MLH1):c.811_815del (p.Ser271fs) rs587779043
NM_000249.3(MLH1):c.821_824dup (p.Ile276fs) rs63751439
NM_000249.3(MLH1):c.827T>G (p.Ile276Arg) rs1253275403
NM_000249.3(MLH1):c.83C>T (p.Pro28Leu) rs63750792
NM_000249.3(MLH1):c.840T>A (p.Tyr280Ter) rs63750938
NM_000249.3(MLH1):c.842C>T (p.Ala281Val) rs63749950
NM_000249.3(MLH1):c.84del (p.Ala29fs) rs587779045
NM_000249.3(MLH1):c.851T>A (p.Leu284Ter) rs63750889
NM_000249.3(MLH1):c.856_857insT (p.Lys286fs) rs63750212
NM_000249.3(MLH1):c.859_860del (p.Asn287fs) rs63750034
NM_000249.3(MLH1):c.860_861AC[3] (p.His289fs) rs587779047
NM_000249.3(MLH1):c.860_861AC[5] (p.Pro290fs) rs587779047
NM_000249.3(MLH1):c.860del (p.Asn287fs) rs63750034
NM_000249.3(MLH1):c.860dup (p.Asn287fs) rs63750034
NM_000249.3(MLH1):c.86C>G (p.Ala29Gly) rs63750216
NM_000249.3(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.3(MLH1):c.883A>C (p.Ser295Arg) rs63751598
NM_000249.3(MLH1):c.883A>G (p.Ser295Gly) rs63751598
NM_000249.3(MLH1):c.884+4A>G rs267607777
NM_000249.3(MLH1):c.884G>A (p.Ser295Asn) rs63750144
NM_000249.3(MLH1):c.884_884+3del rs587779050
NM_000249.3(MLH1):c.885-206_997del rs1553647795
NM_000249.3(MLH1):c.885-493_1039-372del
NM_000249.3(MLH1):c.885-594_1038+1123del
NM_000249.3(MLH1):c.885-?_(*193_?)del
NM_000249.3(MLH1):c.885-?_1038+?del
NM_000249.3(MLH1):c.885-?_1731+?del
NM_000249.3(MLH1):c.887T>G (p.Leu296Ter) rs63750547
NM_000249.3(MLH1):c.887dup (p.Leu296fs) rs63751620
NM_000249.3(MLH1):c.888del (p.Glu297fs) rs267607809
NM_000249.3(MLH1):c.889G>T (p.Glu297Ter) rs63750736
NM_000249.3(MLH1):c.901C>T (p.Gln301Ter) rs63750489
NM_000249.3(MLH1):c.901del (p.Gln301fs) rs587779052
NM_000249.3(MLH1):c.918T>A (p.Asn306Lys) rs587779054
NM_000249.3(MLH1):c.921_922dup (p.His308fs) rs63750962
NM_000249.3(MLH1):c.928del (p.Thr310fs) rs587779055
NM_000249.3(MLH1):c.935dup (p.His312fs) rs63750319
NM_000249.3(MLH1):c.939dup (p.Val314fs) rs63751259
NM_000249.3(MLH1):c.954del (p.His318fs) rs63749926
NM_000249.3(MLH1):c.955G>T (p.Glu319Ter) rs63750796
NM_000249.3(MLH1):c.982C>T (p.Gln328Ter) rs587779058
NM_000249.3(MLH1):c.986A>C (p.His329Pro) rs63750710
NM_000249.3(MLH1):c.994del (p.Ser332fs) rs63750533
NM_000249.3(MLH1):c.9del (p.Phe3fs) rs63750745
NM_000249.3(MLH1):c.[-27C>A;85G>T]
NM_000249.3(MLH1):c.[453+625_545+921delinsTG;545+1271_677+737delinsCA]
NM_001167617.2(MLH1):c.383+1del rs267607779
NM_001354621.1(MLH1):c.-139-2804_-139-2801del rs267607799

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