Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.37048992_37050554delCA008483MLH1c.1668-1494_1736del
c.1784_1878del
c.1896+1309_1965del
c.1355_1449del
c.1985_2079del
c.1913_2007del
c.2078_2172del
c.*996_*1090del
c.*1910_*2004del
c.*1189_*1283del
c.1022_1116del
c.1866_1960del
n.1112_1206del
n.1460_1554del
c.*1870_*1964del
c.1346_1440del
c.*2218_*2312del
c.*1956_*2050del
c.*307_*401del
n.789_883del
c.1871+1309_1940del
c.1871_1965del
c.1055_1149del
c.1004_1098del
c.1979_2073del
 ClinVar
3g.37049411_37050580delCA645518646MLH1c.1668-1075_1762del
c.1809+394_1904del
c.1897-1075_1991del
c.1380+394_1475del
c.2010+394_2105del
c.1938+394_2033del
c.2103+394_2198del
c.*1021+394_*1116del
c.*1935+394_*2030del
c.*1214+394_*1309del
c.1047+394_1142del
c.1891+394_1986del
n.1137+394_1232del
n.1485+394_1580del
c.*1895+394_*1990del
c.1371+394_1466del
c.*2243+394_*2338del
c.*1981+394_*2076del
c.*332+394_*427del
n.814+394_909del
c.1872-1075_1966del
c.1896+394_1991del
c.1080+394_1175del
c.1029+394_1124del
c.2004+394_2099del
 COSMIC
3g.37050479_37050529delCA2580069517MLH1c.1668-7_1711del
c.1810-7_1853del
c.1559-7_*39del
c.1897-7_1940del
c.1381-7_1424del
c.2011-7_2054del
c.1939-7_1982del
c.2104-7_2147del
c.*1022-7_*1065del
c.*1936-7_*1979del
c.*1215-7_*1258del
c.1048-7_1091del
c.1892-7_1935del
n.1138-7_1181del
n.1486-7_1529del
c.*1896-7_*1939del
c.1372-7_1415del
c.*2244-7_*2287del
c.*1982-7_*2025del
c.*333-7_*376del
n.815-7_858del
c.291-7_334del
c.182-7_225del
c.1872-7_1915del
c.1081-7_1124del
c.1030-7_1073del
c.2005-7_2048del
 ClinVar
3g.37050513_37050534delCA2702495966MLH1c.1695_1716del (p.Pro566HisfsTer4)
c.1837_1858del (p.Ser613ThrfsTer?)
c.*23_*44del (n.*23_*44del)
c.1924_1945del (p.Ser642ThrfsTer?)
c.1408_1429del (p.Ser470ThrfsTer?)
c.2038_2059del (p.Ser680ThrfsTer?)
c.1966_1987del (p.Ser656ThrfsTer?)
c.2131_2152del (p.Ser711ThrfsTer?)
c.*1049_*1070del (n.*1049_*1070del)
c.*1963_*1984del (n.*1963_*1984del)
c.*1242_*1263del (n.*1242_*1263del)
c.1075_1096del (p.Ser359ThrfsTer?)
c.1919_1940del
n.1165_1186del
n.1513_1534del
c.*1923_*1944del (n.*1923_*1944del)
c.1399_1420del (p.Ser467ThrfsTer?)
c.*2271_*2292del (n.*2271_*2292del)
c.*2009_*2030del (n.*2009_*2030del)
c.*360_*381del (n.*360_*381del)
n.842_863del
c.318_339del (p.Thr106=)
c.209_230del (n.209_230del)
c.1899_1920del
c.1108_1129del (p.Ser370ThrfsTer?)
c.1057_1078del (p.Ser353ThrfsTer?)
c.2032_2053del (p.Ser678ThrfsTer?)
 dbSNP
3g.37050520_37050533delCA2573136246MLH1c.1702_1715del (p.Ser568HisfsTer?)
c.1844_1857del (p.Lys615ThrfsTer5)
c.*30_*43del (n.*30_*43del)
c.1931_1944del (p.Lys644ThrfsTer5)
c.1415_1428del (p.Lys472ThrfsTer5)
c.2045_2058del (p.Lys682ThrfsTer5)
c.1973_1986del (p.Lys658ThrfsTer5)
c.2138_2151del (p.Lys713ThrfsTer5)
c.*1056_*1069del (n.*1056_*1069del)
c.*1970_*1983del (n.*1970_*1983del)
c.*1249_*1262del (n.*1249_*1262del)
c.1082_1095del (p.Lys361ThrfsTer5)
c.1926_1939del
n.1172_1185del
n.1520_1533del
c.*1930_*1943del (n.*1930_*1943del)
c.1406_1419del (p.Lys469ThrfsTer5)
c.*2278_*2291del (n.*2278_*2291del)
c.*2016_*2029del (n.*2016_*2029del)
c.*367_*380del (n.*367_*380del)
n.849_862del
c.325_338del (p.Ser109HisfsTer?)
c.216_229del (n.216_229del)
c.1906_1919del
c.1115_1128del (p.Lys372ThrfsTer5)
c.1064_1077del (p.Lys355ThrfsTer5)
c.2039_2052del (p.Lys680ThrfsTer5)
 ClinVar dbSNP
3g.37050526_37050528delinsCTGCA1357891749MLH1c.1708_1710delinsCTG (p.Leu570=)
c.1850_1852delinsCTG (p.Thr617=)
c.*36_*38delinsCTG (n.*36_*38delinsCTG)
c.1937_1939delinsCTG (p.Thr646=)
c.1421_1423delinsCTG (p.Thr474=)
c.2051_2053delinsCTG (p.Thr684=)
c.1979_1981delinsCTG (p.Thr660=)
c.2144_2146delinsCTG (p.Thr715=)
c.*1062_*1064delinsCTG (n.*1062_*1064delinsCTG)
c.*1976_*1978delinsCTG (n.*1976_*1978delinsCTG)
c.*1255_*1257delinsCTG (n.*1255_*1257delinsCTG)
c.1088_1090delinsCTG (p.Thr363=)
c.1932_1934delinsCTG
n.1178_1180delinsCTG
n.1526_1528delinsCTG
c.*1936_*1938delinsCTG (n.*1936_*1938delinsCTG)
c.1412_1414delinsCTG (p.Thr471=)
c.*2284_*2286delinsCTG (n.*2284_*2286delinsCTG)
c.*2022_*2024delinsCTG (n.*2022_*2024delinsCTG)
c.*373_*375delinsCTG (n.*373_*375delinsCTG)
n.855_857delinsCTG
c.331_333delinsCTG (p.Leu111=)
c.222_224delinsCTG (n.222_224delinsCTG)
c.1912_1914delinsCTG
c.1121_1123delinsCTG (p.Thr374=)
c.1070_1072delinsCTG (p.Thr357=)
c.2045_2047delinsCTG (p.Thr682=)
3g.37050526_37050536delCA2580069545MLH1c.1708_1718del (p.Leu570IlefsTer?)
c.1850_1860del (p.Thr617AsnfsTer4)
c.*36_*46del (n.*36_*46del)
c.1937_1947del (p.Thr646AsnfsTer4)
c.1421_1431del (p.Thr474AsnfsTer4)
c.2051_2061del (p.Thr684AsnfsTer4)
c.1979_1989del (p.Thr660AsnfsTer4)
c.2144_2154del (p.Thr715AsnfsTer4)
c.*1062_*1072del (n.*1062_*1072del)
c.*1976_*1986del (n.*1976_*1986del)
c.*1255_*1265del (n.*1255_*1265del)
c.1088_1098del (p.Thr363AsnfsTer4)
c.1932_1942del
n.1178_1188del
n.1526_1536del
c.*1936_*1946del (n.*1936_*1946del)
c.1412_1422del (p.Thr471AsnfsTer4)
c.*2284_*2294del (n.*2284_*2294del)
c.*2022_*2032del (n.*2022_*2032del)
c.*373_*383del (n.*373_*383del)
n.855_865del
c.331_341del (p.Leu111=)
c.222_232del (n.222_232del)
c.1912_1922del
c.1121_1131del (p.Thr374AsnfsTer4)
c.1070_1080del (p.Thr357AsnfsTer4)
c.2045_2055del (p.Thr682AsnfsTer4)
 ClinVar
3g.37050527T>ACA352069132MLH1c.1709T>A (p.Leu570Gln)
c.1851T>A (p.Thr617=)
c.*37T>A (n.*37T>A)
c.1938T>A (p.Thr646=)
c.1422T>A (p.Thr474=)
c.2052T>A (p.Thr684=)
c.1980T>A (p.Thr660=)
c.2145T>A (p.Thr715=)
c.*1063T>A (n.*1063T>A)
c.*1977T>A (n.*1977T>A)
c.*1256T>A (n.*1256T>A)
c.1089T>A (p.Thr363=)
c.1933T>A
n.1179T>A
n.1527T>A
c.*1937T>A (n.*1937T>A)
c.1413T>A (p.Thr471=)
c.*2285T>A (n.*2285T>A)
c.*2023T>A (n.*2023T>A)
c.*374T>A (n.*374T>A)
n.856T>A
c.332T>A (p.Leu111Gln)
c.223T>A (n.223T>A)
c.1913T>A
c.1122T>A (p.Thr374=)
c.1071T>A (p.Thr357=)
c.2046T>A (p.Thr682=)
 dbSNP
3g.37050527T>CCA352069130MLH1c.1709T>C (p.Leu570Pro)
c.1851T>C (p.Thr617=)
c.*37T>C (n.*37T>C)
c.1938T>C (p.Thr646=)
c.1422T>C (p.Thr474=)
c.2052T>C (p.Thr684=)
c.1980T>C (p.Thr660=)
c.2145T>C (p.Thr715=)
c.*1063T>C (n.*1063T>C)
c.*1977T>C (n.*1977T>C)
c.*1256T>C (n.*1256T>C)
c.1089T>C (p.Thr363=)
c.1933T>C
n.1179T>C
n.1527T>C
c.*1937T>C (n.*1937T>C)
c.1413T>C (p.Thr471=)
c.*2285T>C (n.*2285T>C)
c.*2023T>C (n.*2023T>C)
c.*374T>C (n.*374T>C)
n.856T>C
c.332T>C (p.Leu111Pro)
c.223T>C (n.223T>C)
c.1913T>C
c.1122T>C (p.Thr374=)
c.1071T>C (p.Thr357=)
c.2046T>C (p.Thr682=)
 dbSNP
3g.37050527T>GCA352069124MLH1c.1709T>G (p.Leu570Arg)
c.1851T>G (p.Thr617=)
c.*37T>G (n.*37T>G)
c.1938T>G (p.Thr646=)
c.1422T>G (p.Thr474=)
c.2052T>G (p.Thr684=)
c.1980T>G (p.Thr660=)
c.2145T>G (p.Thr715=)
c.*1063T>G (n.*1063T>G)
c.*1977T>G (n.*1977T>G)
c.*1256T>G (n.*1256T>G)
c.1089T>G (p.Thr363=)
c.1933T>G
n.1179T>G
n.1527T>G
c.*1937T>G (n.*1937T>G)
c.1413T>G (p.Thr471=)
c.*2285T>G (n.*2285T>G)
c.*2023T>G (n.*2023T>G)
c.*374T>G (n.*374T>G)
n.856T>G
c.332T>G (p.Leu111Arg)
c.223T>G (n.223T>G)
c.1913T>G
c.1122T>G (p.Thr374=)
c.1071T>G (p.Thr357=)
c.2046T>G (p.Thr682=)
3g.37050529_37050530delCA008870MLH1c.1711_1712del (p.Trp571GlufsTer?)
c.1853_1854del (p.Val618GlyfsTer6)
c.*39_*40del (n.*39_*40del)
c.1940_1941del (p.Val647GlyfsTer6)
c.1424_1425del (p.Val475GlyfsTer6)
c.2054_2055del (p.Val685GlyfsTer6)
c.1982_1983del (p.Val661GlyfsTer6)
c.2147_2148del (p.Val716GlyfsTer6)
c.*1065_*1066del (n.*1065_*1066del)
c.*1979_*1980del (n.*1979_*1980del)
c.*1258_*1259del (n.*1258_*1259del)
c.1091_1092del (p.Val364GlyfsTer6)
c.1935_1936del
n.1181_1182del
n.1529_1530del
c.*1939_*1940del (n.*1939_*1940del)
c.1415_1416del (p.Val472GlyfsTer6)
c.*2287_*2288del (n.*2287_*2288del)
c.*2025_*2026del (n.*2025_*2026del)
c.*376_*377del (n.*376_*377del)
n.858_859del
c.334_335del (p.Trp112GlufsTer?)
c.225_226del (n.225_226del)
c.1915_1916del
c.1124_1125del (p.Val375GlyfsTer6)
c.1073_1074del (p.Val358GlyfsTer6)
c.2048_2049del (p.Val683GlyfsTer6)
 ClinVar dbSNP
3g.37050528G>ACA008859MLH1c.1710G>A (p.Leu570=)
c.1852G>A (p.Val618Met)
c.*38G>A (n.*38G>A)
c.1939G>A (p.Val647Met)
c.1423G>A (p.Val475Met)
c.2053G>A (p.Val685Met)
c.1981G>A (p.Val661Met)
c.2146G>A (p.Val716Met)
c.*1064G>A (n.*1064G>A)
c.*1978G>A (n.*1978G>A)
c.*1257G>A (n.*1257G>A)
c.1090G>A (p.Val364Met)
c.1934G>A
n.1180G>A
n.1528G>A
c.*1938G>A (n.*1938G>A)
c.1414G>A (p.Val472Met)
c.*2286G>A (n.*2286G>A)
c.*2024G>A (n.*2024G>A)
c.*375G>A (n.*375G>A)
n.857G>A
c.333G>A (p.Leu111=)
c.224G>A (n.224G>A)
c.1914G>A
c.1123G>A (p.Val375Met)
c.1072G>A (p.Val358Met)
c.2047G>A (p.Val683Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.37050528G>CCA352069137MLH1c.1710G>C (p.Leu570=)
c.1852G>C (p.Val618Leu)
c.*38G>C (n.*38G>C)
c.1939G>C (p.Val647Leu)
c.1423G>C (p.Val475Leu)
c.2053G>C (p.Val685Leu)
c.1981G>C (p.Val661Leu)
c.2146G>C (p.Val716Leu)
c.*1064G>C (n.*1064G>C)
c.*1978G>C (n.*1978G>C)
c.*1257G>C (n.*1257G>C)
c.1090G>C (p.Val364Leu)
c.1934G>C
n.1180G>C
n.1528G>C
c.*1938G>C (n.*1938G>C)
c.1414G>C (p.Val472Leu)
c.*2286G>C (n.*2286G>C)
c.*2024G>C (n.*2024G>C)
c.*375G>C (n.*375G>C)
n.857G>C
c.333G>C (p.Leu111=)
c.224G>C (n.224G>C)
c.1914G>C
c.1123G>C (p.Val375Leu)
c.1072G>C (p.Val358Leu)
c.2047G>C (p.Val683Leu)
 dbSNP
3g.37050528G=CA1357891750MLH1c.1710G= (p.Leu570=)
c.1852G= (p.Val618=)
c.*38G= (n.*38G=)
c.1939G= (p.Val647=)
c.1423G= (p.Val475=)
c.2053G= (p.Val685=)
c.1981G= (p.Val661=)
c.2146G= (p.Val716=)
c.*1064G= (n.*1064G=)
c.*1978G= (n.*1978G=)
c.*1257G= (n.*1257G=)
c.1090G= (p.Val364=)
c.1934G=
n.1180G=
n.1528G=
c.*1938G= (n.*1938G=)
c.1414G= (p.Val472=)
c.*2286G= (n.*2286G=)
c.*2024G= (n.*2024G=)
c.*375G= (n.*375G=)
n.857G=
c.333G= (p.Leu111=)
c.224G= (n.224G=)
c.1914G=
c.1123G= (p.Val375=)
c.1072G= (p.Val358=)
c.2047G= (p.Val683=)
3g.37050528G>TCA033554MLH1c.1710G>T (p.Leu570=)
c.1852G>T (p.Val618Leu)
c.*38G>T (n.*38G>T)
c.1939G>T (p.Val647Leu)
c.1423G>T (p.Val475Leu)
c.2053G>T (p.Val685Leu)
c.1981G>T (p.Val661Leu)
c.2146G>T (p.Val716Leu)
c.*1064G>T (n.*1064G>T)
c.*1978G>T (n.*1978G>T)
c.*1257G>T (n.*1257G>T)
c.1090G>T (p.Val364Leu)
c.1934G>T
n.1180G>T
n.1528G>T
c.*1938G>T (n.*1938G>T)
c.1414G>T (p.Val472Leu)
c.*2286G>T (n.*2286G>T)
c.*2024G>T (n.*2024G>T)
c.*375G>T (n.*375G>T)
n.857G>T
c.333G>T (p.Leu111=)
c.224G>T (n.224G>T)
c.1914G>T
c.1123G>T (p.Val375Leu)
c.1072G>T (p.Val358Leu)
c.2047G>T (p.Val683Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.37050529T>ACA352069138MLH1c.1711T>A (p.Trp571Arg)
c.1853T>A (p.Val618Glu)
c.*39T>A (n.*39T>A)
c.1940T>A (p.Val647Glu)
c.1424T>A (p.Val475Glu)
c.2054T>A (p.Val685Glu)
c.1982T>A (p.Val661Glu)
c.2147T>A (p.Val716Glu)
c.*1065T>A (n.*1065T>A)
c.*1979T>A (n.*1979T>A)
c.*1258T>A (n.*1258T>A)
c.1091T>A (p.Val364Glu)
c.1935T>A
n.1181T>A
n.1529T>A
c.*1939T>A (n.*1939T>A)
c.1415T>A (p.Val472Glu)
c.*2287T>A (n.*2287T>A)
c.*2025T>A (n.*2025T>A)
c.*376T>A (n.*376T>A)
n.858T>A
c.334T>A (p.Trp112Arg)
c.225T>A (n.225T>A)
c.1915T>A
c.1124T>A (p.Val375Glu)
c.1073T>A (p.Val358Glu)
c.2048T>A (p.Val683Glu)
3g.37050529T>CCA352069139MLH1c.1711T>C (p.Trp571Arg)
c.1853T>C (p.Val618Ala)
c.*39T>C (n.*39T>C)
c.1940T>C (p.Val647Ala)
c.1424T>C (p.Val475Ala)
c.2054T>C (p.Val685Ala)
c.1982T>C (p.Val661Ala)
c.2147T>C (p.Val716Ala)
c.*1065T>C (n.*1065T>C)
c.*1979T>C (n.*1979T>C)
c.*1258T>C (n.*1258T>C)
c.1091T>C (p.Val364Ala)
c.1935T>C
n.1181T>C
n.1529T>C
c.*1939T>C (n.*1939T>C)
c.1415T>C (p.Val472Ala)
c.*2287T>C (n.*2287T>C)
c.*2025T>C (n.*2025T>C)
c.*376T>C (n.*376T>C)
n.858T>C
c.334T>C (p.Trp112Arg)
c.225T>C (n.225T>C)
c.1915T>C
c.1124T>C (p.Val375Ala)
c.1073T>C (p.Val358Ala)
c.2048T>C (p.Val683Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.37050529T>GCA352069141MLH1c.1711T>G (p.Trp571Gly)
c.1853T>G (p.Val618Gly)
c.*39T>G (n.*39T>G)
c.1940T>G (p.Val647Gly)
c.1424T>G (p.Val475Gly)
c.2054T>G (p.Val685Gly)
c.1982T>G (p.Val661Gly)
c.2147T>G (p.Val716Gly)
c.*1065T>G (n.*1065T>G)
c.*1979T>G (n.*1979T>G)
c.*1258T>G (n.*1258T>G)
c.1091T>G (p.Val364Gly)
c.1935T>G
n.1181T>G
n.1529T>G
c.*1939T>G (n.*1939T>G)
c.1415T>G (p.Val472Gly)
c.*2287T>G (n.*2287T>G)
c.*2025T>G (n.*2025T>G)
c.*376T>G (n.*376T>G)
n.858T>G
c.334T>G (p.Trp112Gly)
c.225T>G (n.225T>G)
c.1915T>G
c.1124T>G (p.Val375Gly)
c.1073T>G (p.Val358Gly)
c.2048T>G (p.Val683Gly)
 COSMIC
3g.37050529T=CA1357891752MLH1c.1711T= (p.Trp571=)
c.1853T= (p.Val618=)
c.*39T= (n.*39T=)
c.1940T= (p.Val647=)
c.1424T= (p.Val475=)
c.2054T= (p.Val685=)
c.1982T= (p.Val661=)
c.2147T= (p.Val716=)
c.*1065T= (n.*1065T=)
c.*1979T= (n.*1979T=)
c.*1258T= (n.*1258T=)
c.1091T= (p.Val364=)
c.1935T=
n.1181T=
n.1529T=
c.*1939T= (n.*1939T=)
c.1415T= (p.Val472=)
c.*2287T= (n.*2287T=)
c.*2025T= (n.*2025T=)
c.*376T= (n.*376T=)
n.858T=
c.334T= (p.Trp112=)
c.225T= (n.225T=)
c.1915T=
c.1124T= (p.Val375=)
c.1073T= (p.Val358=)
c.2048T= (p.Val683=)
3g.37050529_37050531delinsTGGCA1357891753MLH1c.1711_1713delinsTGG (p.Trp571=)
c.1853_1855delinsTGG (p.Val618=)
c.*39_*41delinsTGG (n.*39_*41delinsTGG)
c.1940_1942delinsTGG (p.Val647=)
c.1424_1426delinsTGG (p.Val475=)
c.2054_2056delinsTGG (p.Val685=)
c.1982_1984delinsTGG (p.Val661=)
c.2147_2149delinsTGG (p.Val716=)
c.*1065_*1067delinsTGG (n.*1065_*1067delinsTGG)
c.*1979_*1981delinsTGG (n.*1979_*1981delinsTGG)
c.*1258_*1260delinsTGG (n.*1258_*1260delinsTGG)
c.1091_1093delinsTGG (p.Val364=)
c.1935_1937delinsTGG
n.1181_1183delinsTGG
n.1529_1531delinsTGG
c.*1939_*1941delinsTGG (n.*1939_*1941delinsTGG)
c.1415_1417delinsTGG (p.Val472=)
c.*2287_*2289delinsTGG (n.*2287_*2289delinsTGG)
c.*2025_*2027delinsTGG (n.*2025_*2027delinsTGG)
c.*376_*378delinsTGG (n.*376_*378delinsTGG)
n.858_860delinsTGG
c.334_336delinsTGG (p.Trp112=)
c.225_227delinsTGG (n.225_227delinsTGG)
c.1915_1917delinsTGG
c.1124_1126delinsTGG (p.Val375=)
c.1073_1075delinsTGG (p.Val358=)
c.2048_2050delinsTGG (p.Val683=)
3g.37050530_37050545delCA2586971986MLH1c.1712_1727del (p.Trp571Ter)
c.1854_1869del (p.Glu619LysfsTer?)
c.1941_1956del (p.Glu648LysfsTer?)
c.1425_1440del (p.Glu476LysfsTer?)
c.2055_2070del (p.Glu686LysfsTer?)
c.1983_1998del (p.Glu662LysfsTer?)
c.2148_2163del (p.Glu717LysfsTer?)
c.*1066_*1081del (n.*1066_*1081del)
c.*1980_*1995del (n.*1980_*1995del)
c.*1259_*1274del (n.*1259_*1274del)
c.1092_1107del (p.Glu365LysfsTer?)
c.1936_1951del
n.1182_1197del
n.1530_1545del
c.*1940_*1955del (n.*1940_*1955del)
c.1416_1431del (p.Glu473LysfsTer?)
c.*2288_*2303del (n.*2288_*2303del)
c.*2026_*2041del (n.*2026_*2041del)
c.*377_*392del (n.*377_*392del)
n.859_874del
c.1916_1931del
c.1125_1140del (p.Glu376LysfsTer?)
c.1074_1089del (p.Glu359LysfsTer?)
c.2049_2064del (p.Glu684LysfsTer?)
 ClinVar
3g.37050529_37050550delinsTGGAACACATTGTCTATAAAGCCA1357891751MLH1c.1711_1732delinsTGGAACACATTGTCTATAAAGC (p.Trp571=)
c.1853_1874delinsTGGAACACATTGTCTATAAAGC (p.Val618=)
c.1940_1961delinsTGGAACACATTGTCTATAAAGC (p.Val647=)
c.1424_1445delinsTGGAACACATTGTCTATAAAGC (p.Val475=)
c.2054_2075delinsTGGAACACATTGTCTATAAAGC (p.Val685=)
c.1982_2003delinsTGGAACACATTGTCTATAAAGC (p.Val661=)
c.2147_2168delinsTGGAACACATTGTCTATAAAGC (p.Val716=)
c.*1065_*1086delinsTGGAACACATTGTCTATAAAGC (n.*1065_*1086delinsTGGAACACATTGTCTATAAAGC)
c.*1979_*2000delinsTGGAACACATTGTCTATAAAGC (n.*1979_*2000delinsTGGAACACATTGTCTATAAAGC)
c.*1258_*1279delinsTGGAACACATTGTCTATAAAGC (n.*1258_*1279delinsTGGAACACATTGTCTATAAAGC)
c.1091_1112delinsTGGAACACATTGTCTATAAAGC (p.Val364=)
c.1935_1956delinsTGGAACACATTGTCTATAAAGC
n.1181_1202delinsTGGAACACATTGTCTATAAAGC
n.1529_1550delinsTGGAACACATTGTCTATAAAGC
c.*1939_*1960delinsTGGAACACATTGTCTATAAAGC (n.*1939_*1960delinsTGGAACACATTGTCTATAAAGC)
c.1415_1436delinsTGGAACACATTGTCTATAAAGC (p.Val472=)
c.*2287_*2308delinsTGGAACACATTGTCTATAAAGC (n.*2287_*2308delinsTGGAACACATTGTCTATAAAGC)
c.*2025_*2046delinsTGGAACACATTGTCTATAAAGC (n.*2025_*2046delinsTGGAACACATTGTCTATAAAGC)
c.*376_*397delinsTGGAACACATTGTCTATAAAGC (n.*376_*397delinsTGGAACACATTGTCTATAAAGC)
n.858_879delinsTGGAACACATTGTCTATAAAGC
c.1915_1936delinsTGGAACACATTGTCTATAAAGC
c.1124_1145delinsTGGAACACATTGTCTATAAAGC (p.Val375=)
c.1073_1094delinsTGGAACACATTGTCTATAAAGC (p.Val358=)
c.2048_2069delinsTGGAACACATTGTCTATAAAGC (p.Val683=)
3g.37050530_37050558delCA2697550782MLH1c.1712_1740del (p.Trp571SerfsTer?)
c.1854_1882del (p.Glu619ThrfsTer6)
c.1941_1969del (p.Glu648ThrfsTer6)
c.1425_1453del (p.Glu476ThrfsTer6)
c.2055_2083del (p.Glu686ThrfsTer6)
c.1983_2011del (p.Glu662ThrfsTer6)
c.2148_2176del (p.Glu717ThrfsTer6)
c.*1066_*1094del (n.*1066_*1094del)
c.*1980_*2008del (n.*1980_*2008del)
c.*1259_*1287del (n.*1259_*1287del)
c.1092_1120del (p.Glu365ThrfsTer6)
c.1936_1964del
n.1182_1210del
n.1530_1558del
c.*1940_*1968del (n.*1940_*1968del)
c.1416_1444del (p.Glu473ThrfsTer6)
c.*2288_*2316del (n.*2288_*2316del)
c.*2026_*2054del (n.*2026_*2054del)
c.*377_*405del (n.*377_*405del)
n.859_887del
c.1916_1944del
c.1125_1153del (p.Glu376ThrfsTer6)
c.1074_1102del (p.Glu359ThrfsTer6)
c.2049_2077del (p.Glu684ThrfsTer6)
 ClinVar
3g.37050530G>ACA352069145MLH1c.1712G>A (p.Trp571Ter)
c.1854G>A (p.Val618=)
c.*40G>A (n.*40G>A)
c.1941G>A (p.Val647=)
c.1425G>A (p.Val475=)
c.2055G>A (p.Val685=)
c.1983G>A (p.Val661=)
c.2148G>A (p.Val716=)
c.*1066G>A (n.*1066G>A)
c.*1980G>A (n.*1980G>A)
c.*1259G>A (n.*1259G>A)
c.1092G>A (p.Val364=)
c.1936G>A
n.1182G>A
n.1530G>A
c.*1940G>A (n.*1940G>A)
c.1416G>A (p.Val472=)
c.*2288G>A (n.*2288G>A)
c.*2026G>A (n.*2026G>A)
c.*377G>A (n.*377G>A)
n.859G>A
c.335G>A (p.Trp112Ter)
c.226G>A (n.226G>A)
c.1916G>A
c.1125G>A (p.Val375=)
c.1074G>A (p.Val358=)
c.2049G>A (p.Val683=)
 ClinVar dbSNP
3g.37050530G>CCA352069151MLH1c.1712G>C (p.Trp571Ser)
c.1854G>C (p.Val618=)
c.*40G>C (n.*40G>C)
c.1941G>C (p.Val647=)
c.1425G>C (p.Val475=)
c.2055G>C (p.Val685=)
c.1983G>C (p.Val661=)
c.2148G>C (p.Val716=)
c.*1066G>C (n.*1066G>C)
c.*1980G>C (n.*1980G>C)
c.*1259G>C (n.*1259G>C)
c.1092G>C (p.Val364=)
c.1936G>C
n.1182G>C
n.1530G>C
c.*1940G>C (n.*1940G>C)
c.1416G>C (p.Val472=)
c.*2288G>C (n.*2288G>C)
c.*2026G>C (n.*2026G>C)
c.*377G>C (n.*377G>C)
n.859G>C
c.335G>C (p.Trp112Ser)
c.226G>C (n.226G>C)
c.1916G>C
c.1125G>C (p.Val375=)
c.1074G>C (p.Val358=)
c.2049G>C (p.Val683=)
3g.37050530G=CA1357891754MLH1c.1712G= (p.Trp571=)
c.1854G= (p.Val618=)
c.*40G= (n.*40G=)
c.1941G= (p.Val647=)
c.1425G= (p.Val475=)
c.2055G= (p.Val685=)
c.1983G= (p.Val661=)
c.2148G= (p.Val716=)
c.*1066G= (n.*1066G=)
c.*1980G= (n.*1980G=)
c.*1259G= (n.*1259G=)
c.1092G= (p.Val364=)
c.1936G=
n.1182G=
n.1530G=
c.*1940G= (n.*1940G=)
c.1416G= (p.Val472=)
c.*2288G= (n.*2288G=)
c.*2026G= (n.*2026G=)
c.*377G= (n.*377G=)
n.859G=
c.335G= (p.Trp112=)
c.226G= (n.226G=)
c.1916G=
c.1125G= (p.Val375=)
c.1074G= (p.Val358=)
c.2049G= (p.Val683=)
3g.37050530G>TCA352069148MLH1c.1712G>T (p.Trp571Leu)
c.1854G>T (p.Val618=)
c.*40G>T (n.*40G>T)
c.1941G>T (p.Val647=)
c.1425G>T (p.Val475=)
c.2055G>T (p.Val685=)
c.1983G>T (p.Val661=)
c.2148G>T (p.Val716=)
c.*1066G>T (n.*1066G>T)
c.*1980G>T (n.*1980G>T)
c.*1259G>T (n.*1259G>T)
c.1092G>T (p.Val364=)
c.1936G>T
n.1182G>T
n.1530G>T
c.*1940G>T (n.*1940G>T)
c.1416G>T (p.Val472=)
c.*2288G>T (n.*2288G>T)
c.*2026G>T (n.*2026G>T)
c.*377G>T (n.*377G>T)
n.859G>T
c.335G>T (p.Trp112Leu)
c.226G>T (n.226G>T)
c.1916G>T
c.1125G>T (p.Val375=)
c.1074G>T (p.Val358=)
c.2049G>T (p.Val683=)
3g.37050530_37050531delCA915942326MLH1c.1712_1713del (p.Trp571Ter)
c.1854_1855del (p.Glu619ThrfsTer5)
c.*40_*41del (n.*40_*41del)
c.1941_1942del (p.Glu648ThrfsTer5)
c.1425_1426del (p.Glu476ThrfsTer5)
c.2055_2056del (p.Glu686ThrfsTer5)
c.1983_1984del (p.Glu662ThrfsTer5)
c.2148_2149del (p.Glu717ThrfsTer5)
c.*1066_*1067del (n.*1066_*1067del)
c.*1980_*1981del (n.*1980_*1981del)
c.*1259_*1260del (n.*1259_*1260del)
c.1092_1093del (p.Glu365ThrfsTer5)
c.1936_1937del
n.1182_1183del
n.1530_1531del
c.*1940_*1941del (n.*1940_*1941del)
c.1416_1417del (p.Glu473ThrfsTer5)
c.*2288_*2289del (n.*2288_*2289del)
c.*2026_*2027del (n.*2026_*2027del)
c.*377_*378del (n.*377_*378del)
n.859_860del
c.335_336del (p.Trp112Ter)
c.226_227del (n.226_227del)
c.1916_1917del
c.1125_1126del (p.Glu376ThrfsTer5)
c.1074_1075del (p.Glu359ThrfsTer5)
c.2049_2050del (p.Glu684ThrfsTer5)
 ClinVar dbSNP
3g.37050531delCA2580069547MLH1c.1713del (p.Trp571Ter)
c.1855del (p.Glu619AsnfsTer?)
c.*41del (n.*41del)
c.1942del (p.Glu648AsnfsTer?)
c.1426del (p.Glu476AsnfsTer?)
c.2056del (p.Glu686AsnfsTer?)
c.1984del (p.Glu662AsnfsTer?)
c.2149del (p.Glu717AsnfsTer?)
c.*1067del (n.*1067del)
c.*1981del (n.*1981del)
c.*1260del (n.*1260del)
c.1093del (p.Glu365AsnfsTer?)
c.1937del
n.1183del
n.1531del
c.*1941del (n.*1941del)
c.1417del (p.Glu473AsnfsTer?)
c.*2289del (n.*2289del)
c.*2027del (n.*2027del)
c.*378del (n.*378del)
n.860del
c.336del (p.Trp112Ter)
c.227del (n.227del)
c.1917del
c.1126del (p.Glu376AsnfsTer?)
c.1075del (p.Glu359AsnfsTer?)
c.2050del (p.Glu684AsnfsTer?)
 ClinVar dbSNP gnomAD v4
3g.37050531G>ACA352069153MLH1c.1713G>A (p.Trp571Ter)
c.1855G>A (p.Glu619Lys)
c.*41G>A (n.*41G>A)
c.1942G>A (p.Glu648Lys)
c.1426G>A (p.Glu476Lys)
c.2056G>A (p.Glu686Lys)
c.1984G>A (p.Glu662Lys)
c.2149G>A (p.Glu717Lys)
c.*1067G>A (n.*1067G>A)
c.*1981G>A (n.*1981G>A)
c.*1260G>A (n.*1260G>A)
c.1093G>A (p.Glu365Lys)
c.1937G>A
n.1183G>A
n.1531G>A
c.*1941G>A (n.*1941G>A)
c.1417G>A (p.Glu473Lys)
c.*2289G>A (n.*2289G>A)
c.*2027G>A (n.*2027G>A)
c.*378G>A (n.*378G>A)
n.860G>A
c.336G>A (p.Trp112Ter)
c.227G>A (n.227G>A)
c.1917G>A
c.1126G>A (p.Glu376Lys)
c.1075G>A (p.Glu359Lys)
c.2050G>A (p.Glu684Lys)
 ClinVar dbSNP
3g.37050531G>CCA352069157MLH1c.1713G>C (p.Trp571Cys)
c.1855G>C (p.Glu619Gln)
c.*41G>C (n.*41G>C)
c.1942G>C (p.Glu648Gln)
c.1426G>C (p.Glu476Gln)
c.2056G>C (p.Glu686Gln)
c.1984G>C (p.Glu662Gln)
c.2149G>C (p.Glu717Gln)
c.*1067G>C (n.*1067G>C)
c.*1981G>C (n.*1981G>C)
c.*1260G>C (n.*1260G>C)
c.1093G>C (p.Glu365Gln)
c.1937G>C
n.1183G>C
n.1531G>C
c.*1941G>C (n.*1941G>C)
c.1417G>C (p.Glu473Gln)
c.*2289G>C (n.*2289G>C)
c.*2027G>C (n.*2027G>C)
c.*378G>C (n.*378G>C)
n.860G>C
c.336G>C (p.Trp112Cys)
c.227G>C (n.227G>C)
c.1917G>C
c.1126G>C (p.Glu376Gln)
c.1075G>C (p.Glu359Gln)
c.2050G>C (p.Glu684Gln)
 dbSNP COSMIC
3g.37050531G=CA1357891755MLH1c.1713G= (p.Trp571=)
c.1855G= (p.Glu619=)
c.*41G= (n.*41G=)
c.1942G= (p.Glu648=)
c.1426G= (p.Glu476=)
c.2056G= (p.Glu686=)
c.1984G= (p.Glu662=)
c.2149G= (p.Glu717=)
c.*1067G= (n.*1067G=)
c.*1981G= (n.*1981G=)
c.*1260G= (n.*1260G=)
c.1093G= (p.Glu365=)
c.1937G=
n.1183G=
n.1531G=
c.*1941G= (n.*1941G=)
c.1417G= (p.Glu473=)
c.*2289G= (n.*2289G=)
c.*2027G= (n.*2027G=)
c.*378G= (n.*378G=)
n.860G=
c.336G= (p.Trp112=)
c.227G= (n.227G=)
c.1917G=
c.1126G= (p.Glu376=)
c.1075G= (p.Glu359=)
c.2050G= (p.Glu684=)
3g.37050531G>TCA352069159MLH1c.1713G>T (p.Trp571Cys)
c.1855G>T (p.Glu619Ter)
c.*41G>T (n.*41G>T)
c.1942G>T (p.Glu648Ter)
c.1426G>T (p.Glu476Ter)
c.2056G>T (p.Glu686Ter)
c.1984G>T (p.Glu662Ter)
c.2149G>T (p.Glu717Ter)
c.*1067G>T (n.*1067G>T)
c.*1981G>T (n.*1981G>T)
c.*1260G>T (n.*1260G>T)
c.1093G>T (p.Glu365Ter)
c.1937G>T
n.1183G>T
n.1531G>T
c.*1941G>T (n.*1941G>T)
c.1417G>T (p.Glu473Ter)
c.*2289G>T (n.*2289G>T)
c.*2027G>T (n.*2027G>T)
c.*378G>T (n.*378G>T)
n.860G>T
c.336G>T (p.Trp112Cys)
c.227G>T (n.227G>T)
c.1917G>T
c.1126G>T (p.Glu376Ter)
c.1075G>T (p.Glu359Ter)
c.2050G>T (p.Glu684Ter)
 ClinVar dbSNP
3g.37050531_37050577dupCA330922MLH1c.1713_1759dup (p.Asn587ArgfsTer6)
c.1855_1901dup (p.His635AsnfsTer?)
c.1942_1988dup (p.His664AsnfsTer?)
c.1426_1472dup (p.His492AsnfsTer?)
c.2056_2102dup (p.His702AsnfsTer?)
c.1984_2030dup (p.His678AsnfsTer?)
c.2149_2195dup (p.His733AsnfsTer?)
c.*1067_*1113dup (n.*1067_*1113dup)
c.*1981_*2027dup (n.*1981_*2027dup)
c.*1260_*1306dup (n.*1260_*1306dup)
c.1093_1139dup (p.His381AsnfsTer?)
c.1937_1983dup
n.1183_1229dup
n.1531_1577dup
c.*1941_*1987dup (n.*1941_*1987dup)
c.1417_1463dup (p.His489AsnfsTer?)
c.*2289_*2335dup (n.*2289_*2335dup)
c.*2027_*2073dup (n.*2027_*2073dup)
c.*378_*424dup (n.*378_*424dup)
n.860_906dup
c.1917_1963dup
c.1126_1172dup (p.His392AsnfsTer?)
c.1075_1121dup (p.His375AsnfsTer?)
c.2050_2096dup (p.His700AsnfsTer?)
 ClinVar dbSNP
3g.37050532A>CCA352069163MLH1c.1714A>C (p.Asn572His)
c.1856A>C (p.Glu619Ala)
c.*42A>C (n.*42A>C)
c.1943A>C (p.Glu648Ala)
c.1427A>C (p.Glu476Ala)
c.2057A>C (p.Glu686Ala)
c.1985A>C (p.Glu662Ala)
c.2150A>C (p.Glu717Ala)
c.*1068A>C (n.*1068A>C)
c.*1982A>C (n.*1982A>C)
c.*1261A>C (n.*1261A>C)
c.1094A>C (p.Glu365Ala)
c.1938A>C
n.1184A>C
n.1532A>C
c.*1942A>C (n.*1942A>C)
c.1418A>C (p.Glu473Ala)
c.*2290A>C (n.*2290A>C)
c.*2028A>C (n.*2028A>C)
c.*379A>C (n.*379A>C)
n.861A>C
c.337A>C (p.Asn113His)
c.228A>C (n.228A>C)
c.1918A>C
c.1127A>C (p.Glu376Ala)
c.1076A>C (p.Glu359Ala)
c.2051A>C (p.Glu684Ala)
3g.37050532A>GCA352069165MLH1c.1714A>G (p.Asn572Asp)
c.1856A>G (p.Glu619Gly)
c.*42A>G (n.*42A>G)
c.1943A>G (p.Glu648Gly)
c.1427A>G (p.Glu476Gly)
c.2057A>G (p.Glu686Gly)
c.1985A>G (p.Glu662Gly)
c.2150A>G (p.Glu717Gly)
c.*1068A>G (n.*1068A>G)
c.*1982A>G (n.*1982A>G)
c.*1261A>G (n.*1261A>G)
c.1094A>G (p.Glu365Gly)
c.1938A>G
n.1184A>G
n.1532A>G
c.*1942A>G (n.*1942A>G)
c.1418A>G (p.Glu473Gly)
c.*2290A>G (n.*2290A>G)
c.*2028A>G (n.*2028A>G)
c.*379A>G (n.*379A>G)
n.861A>G
c.337A>G (p.Asn113Asp)
c.228A>G (n.228A>G)
c.1918A>G
c.1127A>G (p.Glu376Gly)
c.1076A>G (p.Glu359Gly)
c.2051A>G (p.Glu684Gly)
3g.37050532A>TCA352069168MLH1c.1714A>T (p.Asn572Tyr)
c.1856A>T (p.Glu619Val)
c.*42A>T (n.*42A>T)
c.1943A>T (p.Glu648Val)
c.1427A>T (p.Glu476Val)
c.2057A>T (p.Glu686Val)
c.1985A>T (p.Glu662Val)
c.2150A>T (p.Glu717Val)
c.*1068A>T (n.*1068A>T)
c.*1982A>T (n.*1982A>T)
c.*1261A>T (n.*1261A>T)
c.1094A>T (p.Glu365Val)
c.1938A>T
n.1184A>T
n.1532A>T
c.*1942A>T (n.*1942A>T)
c.1418A>T (p.Glu473Val)
c.*2290A>T (n.*2290A>T)
c.*2028A>T (n.*2028A>T)
c.*379A>T (n.*379A>T)
n.861A>T
c.337A>T (p.Asn113Tyr)
c.228A>T (n.228A>T)
c.1918A>T
c.1127A>T (p.Glu376Val)
c.1076A>T (p.Glu359Val)
c.2051A>T (p.Glu684Val)
 dbSNP
3g.37050532_37050534delinsAACCA1357891756MLH1c.1714_1716delinsAAC (p.Asn572=)
c.1856_1858delinsAAC (p.Glu619=)
c.*42_*44delinsAAC (n.*42_*44delinsAAC)
c.1943_1945delinsAAC (p.Glu648=)
c.1427_1429delinsAAC (p.Glu476=)
c.2057_2059delinsAAC (p.Glu686=)
c.1985_1987delinsAAC (p.Glu662=)
c.2150_2152delinsAAC (p.Glu717=)
c.*1068_*1070delinsAAC (n.*1068_*1070delinsAAC)
c.*1982_*1984delinsAAC (n.*1982_*1984delinsAAC)
c.*1261_*1263delinsAAC (n.*1261_*1263delinsAAC)
c.1094_1096delinsAAC (p.Glu365=)
c.1938_1940delinsAAC
n.1184_1186delinsAAC
n.1532_1534delinsAAC
c.*1942_*1944delinsAAC (n.*1942_*1944delinsAAC)
c.1418_1420delinsAAC (p.Glu473=)
c.*2290_*2292delinsAAC (n.*2290_*2292delinsAAC)
c.*2028_*2030delinsAAC (n.*2028_*2030delinsAAC)
c.*379_*381delinsAAC (n.*379_*381delinsAAC)
n.861_863delinsAAC
c.337_339delinsAAC (p.Asn113=)
c.228_230delinsAAC (n.228_230delinsAAC)
c.1918_1920delinsAAC
c.1127_1129delinsAAC (p.Glu376=)
c.1076_1078delinsAAC (p.Glu359=)
c.2051_2053delinsAAC (p.Glu684=)
3g.37050532_37050535dupCA2586971987MLH1c.1714_1717dup (p.Thr573LysfsTer?)
c.1856_1859dup (p.His620GlnfsTer6)
c.*42_*45dup (n.*42_*45dup)
c.1943_1946dup (p.His649GlnfsTer6)
c.1427_1430dup (p.His477GlnfsTer6)
c.2057_2060dup (p.His687GlnfsTer6)
c.1985_1988dup (p.His663GlnfsTer6)
c.2150_2153dup (p.His718GlnfsTer6)
c.*1068_*1071dup (n.*1068_*1071dup)
c.*1982_*1985dup (n.*1982_*1985dup)
c.*1261_*1264dup (n.*1261_*1264dup)
c.1094_1097dup (p.His366GlnfsTer6)
c.1938_1941dup
n.1184_1187dup
n.1532_1535dup
c.*1942_*1945dup (n.*1942_*1945dup)
c.1418_1421dup (p.His474GlnfsTer6)
c.*2290_*2293dup (n.*2290_*2293dup)
c.*2028_*2031dup (n.*2028_*2031dup)
c.*379_*382dup (n.*379_*382dup)
n.861_864dup
c.337_340dup (p.Thr114LysfsTer?)
c.228_231dup (n.228_231dup)
c.1918_1921dup
c.1127_1130dup (p.His377GlnfsTer6)
c.1076_1079dup (p.His360GlnfsTer6)
c.2051_2054dup (p.His685GlnfsTer6)
3g.37050533A=CA1357891757MLH1c.1715A= (p.Asn572=)
c.1857A= (p.Glu619=)
c.*43A= (n.*43A=)
c.1944A= (p.Glu648=)
c.1428A= (p.Glu476=)
c.2058A= (p.Glu686=)
c.1986A= (p.Glu662=)
c.2151A= (p.Glu717=)
c.*1069A= (n.*1069A=)
c.*1983A= (n.*1983A=)
c.*1262A= (n.*1262A=)
c.1095A= (p.Glu365=)
c.1939A=
n.1185A=
n.1533A=
c.*1943A= (n.*1943A=)
c.1419A= (p.Glu473=)
c.*2291A= (n.*2291A=)
c.*2029A= (n.*2029A=)
c.*380A= (n.*380A=)
n.862A=
c.338A= (p.Asn113=)
c.229A= (n.229A=)
c.1919A=
c.1128A= (p.Glu376=)
c.1077A= (p.Glu359=)
c.2052A= (p.Glu684=)
3g.37050533A>CCA352069176MLH1c.1715A>C (p.Asn572Thr)
c.1857A>C (p.Glu619Asp)
c.*43A>C (n.*43A>C)
c.1944A>C (p.Glu648Asp)
c.1428A>C (p.Glu476Asp)
c.2058A>C (p.Glu686Asp)
c.1986A>C (p.Glu662Asp)
c.2151A>C (p.Glu717Asp)
c.*1069A>C (n.*1069A>C)
c.*1983A>C (n.*1983A>C)
c.*1262A>C (n.*1262A>C)
c.1095A>C (p.Glu365Asp)
c.1939A>C
n.1185A>C
n.1533A>C
c.*1943A>C (n.*1943A>C)
c.1419A>C (p.Glu473Asp)
c.*2291A>C (n.*2291A>C)
c.*2029A>C (n.*2029A>C)
c.*380A>C (n.*380A>C)
n.862A>C
c.338A>C (p.Asn113Thr)
c.229A>C (n.229A>C)
c.1919A>C
c.1128A>C (p.Glu376Asp)
c.1077A>C (p.Glu359Asp)
c.2052A>C (p.Glu684Asp)
 dbSNP
3g.37050533A>GCA352069179MLH1c.1715A>G (p.Asn572Ser)
c.1857A>G (p.Glu619=)
c.*43A>G (n.*43A>G)
c.1944A>G (p.Glu648=)
c.1428A>G (p.Glu476=)
c.2058A>G (p.Glu686=)
c.1986A>G (p.Glu662=)
c.2151A>G (p.Glu717=)
c.*1069A>G (n.*1069A>G)
c.*1983A>G (n.*1983A>G)
c.*1262A>G (n.*1262A>G)
c.1095A>G (p.Glu365=)
c.1939A>G
n.1185A>G
n.1533A>G
c.*1943A>G (n.*1943A>G)
c.1419A>G (p.Glu473=)
c.*2291A>G (n.*2291A>G)
c.*2029A>G (n.*2029A>G)
c.*380A>G (n.*380A>G)
n.862A>G
c.338A>G (p.Asn113Ser)
c.229A>G (n.229A>G)
c.1919A>G
c.1128A>G (p.Glu376=)
c.1077A>G (p.Glu359=)
c.2052A>G (p.Glu684=)
 ClinVar dbSNP
3g.37050533A>TCA352069180MLH1c.1715A>T (p.Asn572Ile)
c.1857A>T (p.Glu619Asp)
c.*43A>T (n.*43A>T)
c.1944A>T (p.Glu648Asp)
c.1428A>T (p.Glu476Asp)
c.2058A>T (p.Glu686Asp)
c.1986A>T (p.Glu662Asp)
c.2151A>T (p.Glu717Asp)
c.*1069A>T (n.*1069A>T)
c.*1983A>T (n.*1983A>T)
c.*1262A>T (n.*1262A>T)
c.1095A>T (p.Glu365Asp)
c.1939A>T
n.1185A>T
n.1533A>T
c.*1943A>T (n.*1943A>T)
c.1419A>T (p.Glu473Asp)
c.*2291A>T (n.*2291A>T)
c.*2029A>T (n.*2029A>T)
c.*380A>T (n.*380A>T)
n.862A>T
c.338A>T (p.Asn113Ile)
c.229A>T (n.229A>T)
c.1919A>T
c.1128A>T (p.Glu376Asp)
c.1077A>T (p.Glu359Asp)
c.2052A>T (p.Glu684Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.37050536_37050537dupCA008931MLH1c.1718_1719dup (p.Leu574HisfsTer4)
c.1860_1861dup (p.Ile621ThrfsTer?)
c.1947_1948dup (p.Ile650ThrfsTer?)
c.1431_1432dup (p.Ile478ThrfsTer?)
c.2061_2062dup (p.Ile688ThrfsTer?)
c.1989_1990dup (p.Ile664ThrfsTer?)
c.2154_2155dup (p.Ile719ThrfsTer?)
c.*1072_*1073dup (n.*1072_*1073dup)
c.*1986_*1987dup (n.*1986_*1987dup)
c.*1265_*1266dup (n.*1265_*1266dup)
c.1098_1099dup (p.Ile367ThrfsTer?)
c.1942_1943dup
n.1188_1189dup
n.1536_1537dup
c.*1946_*1947dup (n.*1946_*1947dup)
c.1422_1423dup (p.Ile475ThrfsTer?)
c.*2294_*2295dup (n.*2294_*2295dup)
c.*2032_*2033dup (n.*2032_*2033dup)
c.*383_*384dup (n.*383_*384dup)
n.865_866dup
c.1922_1923dup
c.1131_1132dup (p.Ile378ThrfsTer?)
c.1080_1081dup (p.Ile361ThrfsTer?)
c.2055_2056dup (p.Ile686ThrfsTer?)
 ClinVar dbSNP
3g.37050536_37050537delCA008906MLH1c.1718_1719del (p.Thr573IlefsTer?)
c.1860_1861del (p.Ile621CysfsTer3)
c.*46_*47del (n.*46_*47del)
c.1947_1948del (p.Ile650CysfsTer3)
c.1431_1432del (p.Ile478CysfsTer3)
c.2061_2062del (p.Ile688CysfsTer3)
c.1989_1990del (p.Ile664CysfsTer3)
c.2154_2155del (p.Ile719CysfsTer3)
c.*1072_*1073del (n.*1072_*1073del)
c.*1986_*1987del (n.*1986_*1987del)
c.*1265_*1266del (n.*1265_*1266del)
c.1098_1099del (p.Ile367CysfsTer3)
c.1942_1943del
n.1188_1189del
n.1536_1537del
c.*1946_*1947del (n.*1946_*1947del)
c.1422_1423del (p.Ile475CysfsTer3)
c.*2294_*2295del (n.*2294_*2295del)
c.*2032_*2033del (n.*2032_*2033del)
c.*383_*384del (n.*383_*384del)
n.865_866del
c.341_342del (p.Thr114=)
c.232_233del (n.232_233del)
c.1922_1923del
c.1131_1132del (p.Ile378CysfsTer3)
c.1080_1081del (p.Ile361CysfsTer3)
c.2055_2056del (p.Ile686CysfsTer3)
 ClinVar dbSNP
3g.37050534C>ACA352069191MLH1c.1716C>A (p.Asn572Lys)
c.1858C>A (p.His620Asn)
c.*44C>A (n.*44C>A)
c.1945C>A (p.His649Asn)
c.1429C>A (p.His477Asn)
c.2059C>A (p.His687Asn)
c.1987C>A (p.His663Asn)
c.2152C>A (p.His718Asn)
c.*1070C>A (n.*1070C>A)
c.*1984C>A (n.*1984C>A)
c.*1263C>A (n.*1263C>A)
c.1096C>A (p.His366Asn)
c.1940C>A
n.1186C>A
n.1534C>A
c.*1944C>A (n.*1944C>A)
c.1420C>A (p.His474Asn)
c.*2292C>A (n.*2292C>A)
c.*2030C>A (n.*2030C>A)
c.*381C>A (n.*381C>A)
n.863C>A
c.339C>A (p.Asn113Lys)
c.230C>A (n.230C>A)
c.1920C>A
c.1129C>A (p.His377Asn)
c.1078C>A (p.His360Asn)
c.2053C>A (p.His685Asn)
 dbSNP
3g.37050534C=CA1357891758MLH1c.1716C= (p.Asn572=)
c.1858C= (p.His620=)
c.*44C= (n.*44C=)
c.1945C= (p.His649=)
c.1429C= (p.His477=)
c.2059C= (p.His687=)
c.1987C= (p.His663=)
c.2152C= (p.His718=)
c.*1070C= (n.*1070C=)
c.*1984C= (n.*1984C=)
c.*1263C= (n.*1263C=)
c.1096C= (p.His366=)
c.1940C=
n.1186C=
n.1534C=
c.*1944C= (n.*1944C=)
c.1420C= (p.His474=)
c.*2292C= (n.*2292C=)
c.*2030C= (n.*2030C=)
c.*381C= (n.*381C=)
n.863C=
c.339C= (p.Asn113=)
c.230C= (n.230C=)
c.1920C=
c.1129C= (p.His377=)
c.1078C= (p.His360=)
c.2053C= (p.His685=)
3g.37050534C>GCA352069189MLH1c.1716C>G (p.Asn572Lys)
c.1858C>G (p.His620Asp)
c.*44C>G (n.*44C>G)
c.1945C>G (p.His649Asp)
c.1429C>G (p.His477Asp)
c.2059C>G (p.His687Asp)
c.1987C>G (p.His663Asp)
c.2152C>G (p.His718Asp)
c.*1070C>G (n.*1070C>G)
c.*1984C>G (n.*1984C>G)
c.*1263C>G (n.*1263C>G)
c.1096C>G (p.His366Asp)
c.1940C>G
n.1186C>G
n.1534C>G
c.*1944C>G (n.*1944C>G)
c.1420C>G (p.His474Asp)
c.*2292C>G (n.*2292C>G)
c.*2030C>G (n.*2030C>G)
c.*381C>G (n.*381C>G)
n.863C>G
c.339C>G (p.Asn113Lys)
c.230C>G (n.230C>G)
c.1920C>G
c.1129C>G (p.His377Asp)
c.1078C>G (p.His360Asp)
c.2053C>G (p.His685Asp)
 dbSNP
3g.37050534C>TCA008892MLH1c.1716C>T (p.Asn572=)
c.1858C>T (p.His620Tyr)
c.*44C>T (n.*44C>T)
c.1945C>T (p.His649Tyr)
c.1429C>T (p.His477Tyr)
c.2059C>T (p.His687Tyr)
c.1987C>T (p.His663Tyr)
c.2152C>T (p.His718Tyr)
c.*1070C>T (n.*1070C>T)
c.*1984C>T (n.*1984C>T)
c.*1263C>T (n.*1263C>T)
c.1096C>T (p.His366Tyr)
c.1940C>T
n.1186C>T
n.1534C>T
c.*1944C>T (n.*1944C>T)
c.1420C>T (p.His474Tyr)
c.*2292C>T (n.*2292C>T)
c.*2030C>T (n.*2030C>T)
c.*381C>T (n.*381C>T)
n.863C>T
c.339C>T (p.Asn113=)
c.230C>T (n.230C>T)
c.1920C>T
c.1129C>T (p.His377Tyr)
c.1078C>T (p.His360Tyr)
c.2053C>T (p.His685Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.37050537_37050538insATGTGTTCCACACA008924MLH1c.1719_1720insATGTGTTCCACA (p.Thr573_Leu574insMetCysSerThr)
c.1861_1862insATGTGTTCCACA (p.His620_Ile621insAsnValPheHis)
c.1948_1949insATGTGTTCCACA (p.His649_Ile650insAsnValPheHis)
c.1432_1433insATGTGTTCCACA (p.His477_Ile478insAsnValPheHis)
c.2062_2063insATGTGTTCCACA (p.His687_Ile688insAsnValPheHis)
c.1990_1991insATGTGTTCCACA (p.His663_Ile664insAsnValPheHis)
c.2155_2156insATGTGTTCCACA (p.His718_Ile719insAsnValPheHis)
c.*1073_*1074insATGTGTTCCACA (n.*1073_*1074insATGTGTTCCACA)
c.*1987_*1988insATGTGTTCCACA (n.*1987_*1988insATGTGTTCCACA)
c.*1266_*1267insATGTGTTCCACA (n.*1266_*1267insATGTGTTCCACA)
c.1099_1100insATGTGTTCCACA (p.His366_Ile367insAsnValPheHis)
c.1943_1944insATGTGTTCCACA
n.1189_1190insATGTGTTCCACA
n.1537_1538insATGTGTTCCACA
c.*1947_*1948insATGTGTTCCACA (n.*1947_*1948insATGTGTTCCACA)
c.1423_1424insATGTGTTCCACA (p.His474_Ile475insAsnValPheHis)
c.*2295_*2296insATGTGTTCCACA (n.*2295_*2296insATGTGTTCCACA)
c.*2033_*2034insATGTGTTCCACA (n.*2033_*2034insATGTGTTCCACA)
c.*384_*385insATGTGTTCCACA (n.*384_*385insATGTGTTCCACA)
n.866_867insATGTGTTCCACA
c.1923_1924insATGTGTTCCACA
c.1132_1133insATGTGTTCCACA (p.His377_Ile378insAsnValPheHis)
c.1081_1082insATGTGTTCCACA (p.His360_Ile361insAsnValPheHis)
c.2056_2057insATGTGTTCCACA (p.His685_Ile686insAsnValPheHis)
 dbSNP

Number of alleles fetched