| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.37048992_37050554del | CA008483 | MLH1 | c.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 |
| 3 | g.37049411_37050580del | CA645518646 | MLH1 | c.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 |
| 3 | g.37050530_37050545del | CA2586971986 | MLH1 | c.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 |
| 3 | g.37050529_37050550delinsTGGAACACATTGTCTATAAAGC | CA1357891751 | MLH1 | c.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=) | |
| 3 | g.37050530_37050558del | CA2697550782 | MLH1 | c.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 |
| 3 | g.37050531_37050577dup | CA330922 | MLH1 | c.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 |
| 3 | g.37050538_37050554del | CA2580069555 | MLH1 | c.1720_1736del (p.Leu574ArgfsTer?) c.1862_1878del (p.Ile621ThrfsTer8) c.1949_1965del (p.Ile650ThrfsTer8) c.1433_1449del (p.Ile478ThrfsTer8) c.2063_2079del (p.Ile688ThrfsTer8) c.1991_2007del (p.Ile664ThrfsTer8) c.2156_2172del (p.Ile719ThrfsTer8) c.*1074_*1090del (n.*1074_*1090del) c.*1988_*2004del (n.*1988_*2004del) c.*1267_*1283del (n.*1267_*1283del) c.1100_1116del (p.Ile367ThrfsTer8) c.1944_1960del n.1190_1206del n.1538_1554del c.*1948_*1964del (n.*1948_*1964del) c.1424_1440del (p.Ile475ThrfsTer8) c.*2296_*2312del (n.*2296_*2312del) c.*2034_*2050del (n.*2034_*2050del) c.*385_*401del (n.*385_*401del) n.867_883del c.1924_1940del c.1133_1149del (p.Ile378ThrfsTer8) c.1082_1098del (p.Ile361ThrfsTer8) c.2057_2073del (p.Ile686ThrfsTer8) | ClinVar |
| 3 | g.37050540_37050564dup | CA1139768352 | MLH1 | c.1722_1746dup (p.Phe583ValfsTer38) c.1864_1888dup (p.Ile630SerfsTer3) c.1951_1975dup (p.Ile659SerfsTer3) c.1435_1459dup (p.Ile487SerfsTer3) c.2065_2089dup (p.Ile697SerfsTer3) c.1993_2017dup (p.Ile673SerfsTer3) c.2158_2182dup (p.Ile728SerfsTer3) c.*1076_*1100dup (n.*1076_*1100dup) c.*1990_*2014dup (n.*1990_*2014dup) c.*1269_*1293dup (n.*1269_*1293dup) c.1102_1126dup (p.Ile376SerfsTer3) c.1946_1970dup n.1192_1216dup n.1540_1564dup c.*1950_*1974dup (n.*1950_*1974dup) c.1426_1450dup (p.Ile484SerfsTer3) c.*2298_*2322dup (n.*2298_*2322dup) c.*2036_*2060dup (n.*2036_*2060dup) c.*387_*411dup (n.*387_*411dup) n.869_893dup c.1926_1950dup c.1135_1159dup (p.Ile387SerfsTer3) c.1084_1108dup (p.Ile370SerfsTer3) c.2059_2083dup (p.Ile695SerfsTer3) | |
| 3 | g.37050543_37050573dup | CA658655807 | MLH1 | c.1725_1755dup (p.Leu586TyrfsTer37) c.1867_1897dup (p.Pro633LeufsTer2) c.1954_1984dup (p.Pro662LeufsTer2) c.1438_1468dup (p.Pro490LeufsTer2) c.2068_2098dup (p.Pro700LeufsTer2) c.1996_2026dup (p.Pro676LeufsTer2) c.2161_2191dup (p.Pro731LeufsTer2) c.*1079_*1109dup (n.*1079_*1109dup) c.*1993_*2023dup (n.*1993_*2023dup) c.*1272_*1302dup (n.*1272_*1302dup) c.1105_1135dup (p.Pro379LeufsTer2) c.1949_1979dup n.1195_1225dup n.1543_1573dup c.*1953_*1983dup (n.*1953_*1983dup) c.1429_1459dup (p.Pro487LeufsTer2) c.*2301_*2331dup (n.*2301_*2331dup) c.*2039_*2069dup (n.*2039_*2069dup) c.*390_*420dup (n.*390_*420dup) n.872_902dup c.1929_1959dup c.1138_1168dup (p.Pro390LeufsTer2) c.1087_1117dup (p.Pro373LeufsTer2) c.2062_2092dup (p.Pro698LeufsTer2) | ClinVar dbSNP |
| 3 | g.37050543_37050548dup | CA008976 | MLH1 | c.1725_1730dup (p.Ile576_Lys577insAsnIle) c.1867_1872dup (p.Lys624_Ala625insTyrLys) c.1954_1959dup (p.Lys653_Ala654insTyrLys) c.1438_1443dup (p.Lys481_Ala482insTyrLys) c.2068_2073dup (p.Lys691_Ala692insTyrLys) c.1996_2001dup (p.Lys667_Ala668insTyrLys) c.2161_2166dup (p.Lys722_Ala723insTyrLys) c.*1079_*1084dup (n.*1079_*1084dup) c.*1993_*1998dup (n.*1993_*1998dup) c.*1272_*1277dup (n.*1272_*1277dup) c.1105_1110dup (p.Lys370_Ala371insTyrLys) c.1949_1954dup n.1195_1200dup n.1543_1548dup c.*1953_*1958dup (n.*1953_*1958dup) c.1429_1434dup (p.Lys478_Ala479insTyrLys) c.*2301_*2306dup (n.*2301_*2306dup) c.*2039_*2044dup (n.*2039_*2044dup) c.*390_*395dup (n.*390_*395dup) n.872_877dup c.1929_1934dup c.1138_1143dup (p.Lys381_Ala382insTyrLys) c.1087_1092dup (p.Lys364_Ala365insTyrLys) c.2062_2067dup (p.Lys689_Ala690insTyrLys) | dbSNP |
| 3 | g.37050543_37050559delinsTATAAAGCCTTGCGCTC | CA1357891766 | MLH1 | c.1725_1741delinsTATAAAGCCTTGCGCTC (p.Ser575=) c.1867_1883delinsTATAAAGCCTTGCGCTC (p.Tyr623=) c.1954_1970delinsTATAAAGCCTTGCGCTC (p.Tyr652=) c.1438_1454delinsTATAAAGCCTTGCGCTC (p.Tyr480=) c.2068_2084delinsTATAAAGCCTTGCGCTC (p.Tyr690=) c.1996_2012delinsTATAAAGCCTTGCGCTC (p.Tyr666=) c.2161_2177delinsTATAAAGCCTTGCGCTC (p.Tyr721=) c.*1079_*1095delinsTATAAAGCCTTGCGCTC (n.*1079_*1095delinsTATAAAGCCTTGCGCTC) c.*1993_*2009delinsTATAAAGCCTTGCGCTC (n.*1993_*2009delinsTATAAAGCCTTGCGCTC) c.*1272_*1288delinsTATAAAGCCTTGCGCTC (n.*1272_*1288delinsTATAAAGCCTTGCGCTC) c.1105_1121delinsTATAAAGCCTTGCGCTC (p.Tyr369=) c.1949_1965delinsTATAAAGCCTTGCGCTC n.1195_1211delinsTATAAAGCCTTGCGCTC n.1543_1559delinsTATAAAGCCTTGCGCTC c.*1953_*1969delinsTATAAAGCCTTGCGCTC (n.*1953_*1969delinsTATAAAGCCTTGCGCTC) c.1429_1445delinsTATAAAGCCTTGCGCTC (p.Tyr477=) c.*2301_*2317delinsTATAAAGCCTTGCGCTC (n.*2301_*2317delinsTATAAAGCCTTGCGCTC) c.*2039_*2055delinsTATAAAGCCTTGCGCTC (n.*2039_*2055delinsTATAAAGCCTTGCGCTC) c.*390_*406delinsTATAAAGCCTTGCGCTC (n.*390_*406delinsTATAAAGCCTTGCGCTC) n.872_888delinsTATAAAGCCTTGCGCTC c.1929_1945delinsTATAAAGCCTTGCGCTC c.1138_1154delinsTATAAAGCCTTGCGCTC (p.Tyr380=) c.1087_1103delinsTATAAAGCCTTGCGCTC (p.Tyr363=) c.2062_2078delinsTATAAAGCCTTGCGCTC (p.Tyr688=) | |
| 3 | g.37050544_37050559delinsT | CA1139657994 | MLH1 | c.1726_1741delinsT (p.Ile576_His581delinsTyr) c.1868_1883delinsT (p.Tyr623_Ser628delinsLeu) c.1955_1970delinsT (p.Tyr652_Ser657delinsLeu) c.1439_1454delinsT (p.Tyr480_Ser485delinsLeu) c.2069_2084delinsT (p.Tyr690_Ser695delinsLeu) c.1997_2012delinsT (p.Tyr666_Ser671delinsLeu) c.2162_2177delinsT (p.Tyr721_Ser726delinsLeu) c.*1080_*1095delinsT (n.*1080_*1095delinsT) c.*1994_*2009delinsT (n.*1994_*2009delinsT) c.*1273_*1288delinsT (n.*1273_*1288delinsT) c.1106_1121delinsT (p.Tyr369_Ser374delinsLeu) c.1950_1965delinsT n.1196_1211delinsT n.1544_1559delinsT c.*1954_*1969delinsT (n.*1954_*1969delinsT) c.1430_1445delinsT (p.Tyr477_Ser482delinsLeu) c.*2302_*2317delinsT (n.*2302_*2317delinsT) c.*2040_*2055delinsT (n.*2040_*2055delinsT) c.*391_*406delinsT (n.*391_*406delinsT) n.873_888delinsT c.1930_1945delinsT c.1139_1154delinsT (p.Tyr380_Ser385delinsLeu) c.1088_1103delinsT (p.Tyr363_Ser368delinsLeu) c.2063_2078delinsT (p.Tyr688_Ser693delinsLeu) | ClinVar dbSNP |
| 3 | g.37050545del | CA2573136247 | MLH1 | c.1727del (p.Ile576LysfsTer11) c.1869del (p.Tyr623Ter) c.1956del (p.Tyr652Ter) c.1440del (p.Tyr480Ter) c.2070del (p.Tyr690Ter) c.1998del (p.Tyr666Ter) c.2163del (p.Tyr721Ter) c.*1081del (n.*1081del) c.*1995del (n.*1995del) c.*1274del (n.*1274del) c.1107del (p.Tyr369Ter) c.1951del n.1197del n.1545del c.*1955del (n.*1955del) c.1431del (p.Tyr477Ter) c.*2303del (n.*2303del) c.*2041del (n.*2041del) c.*392del (n.*392del) n.874del c.1931del c.1140del (p.Tyr380Ter) c.1089del (p.Tyr363Ter) c.2064del (p.Tyr688Ter) | ClinVar dbSNP |
| 3 | g.37050545T>A | CA008969 | MLH1 | c.1727T>A (p.Ile576Lys) c.1869T>A (p.Tyr623Ter) c.1956T>A (p.Tyr652Ter) c.1440T>A (p.Tyr480Ter) c.2070T>A (p.Tyr690Ter) c.1998T>A (p.Tyr666Ter) c.2163T>A (p.Tyr721Ter) c.*1081T>A (n.*1081T>A) c.*1995T>A (n.*1995T>A) c.*1274T>A (n.*1274T>A) c.1107T>A (p.Tyr369Ter) c.1951T>A n.1197T>A n.1545T>A c.*1955T>A (n.*1955T>A) c.1431T>A (p.Tyr477Ter) c.*2303T>A (n.*2303T>A) c.*2041T>A (n.*2041T>A) c.*392T>A (n.*392T>A) n.874T>A c.1931T>A c.1140T>A (p.Tyr380Ter) c.1089T>A (p.Tyr363Ter) c.2064T>A (p.Tyr688Ter) | ClinVar dbSNP |
| 3 | g.37050545T>C | CA433086892 | MLH1 | c.1727T>C (p.Ile576Thr) c.1869T>C (p.Tyr623=) c.1956T>C (p.Tyr652=) c.1440T>C (p.Tyr480=) c.2070T>C (p.Tyr690=) c.1998T>C (p.Tyr666=) c.2163T>C (p.Tyr721=) c.*1081T>C (n.*1081T>C) c.*1995T>C (n.*1995T>C) c.*1274T>C (n.*1274T>C) c.1107T>C (p.Tyr369=) c.1951T>C n.1197T>C n.1545T>C c.*1955T>C (n.*1955T>C) c.1431T>C (p.Tyr477=) c.*2303T>C (n.*2303T>C) c.*2041T>C (n.*2041T>C) c.*392T>C (n.*392T>C) n.874T>C c.1931T>C c.1140T>C (p.Tyr380=) c.1089T>C (p.Tyr363=) c.2064T>C (p.Tyr688=) | ClinVar dbSNP |
| 3 | g.37050545T>G | CA352069274 | MLH1 | c.1727T>G (p.Ile576Arg) c.1869T>G (p.Tyr623Ter) c.1956T>G (p.Tyr652Ter) c.1440T>G (p.Tyr480Ter) c.2070T>G (p.Tyr690Ter) c.1998T>G (p.Tyr666Ter) c.2163T>G (p.Tyr721Ter) c.*1081T>G (n.*1081T>G) c.*1995T>G (n.*1995T>G) c.*1274T>G (n.*1274T>G) c.1107T>G (p.Tyr369Ter) c.1951T>G n.1197T>G n.1545T>G c.*1955T>G (n.*1955T>G) c.1431T>G (p.Tyr477Ter) c.*2303T>G (n.*2303T>G) c.*2041T>G (n.*2041T>G) c.*392T>G (n.*392T>G) n.874T>G c.1931T>G c.1140T>G (p.Tyr380Ter) c.1089T>G (p.Tyr363Ter) c.2064T>G (p.Tyr688Ter) | |
| 3 | g.37050545T= | CA1357891770 | MLH1 | c.1727T= (p.Ile576=) c.1869T= (p.Tyr623=) c.1956T= (p.Tyr652=) c.1440T= (p.Tyr480=) c.2070T= (p.Tyr690=) c.1998T= (p.Tyr666=) c.2163T= (p.Tyr721=) c.*1081T= (n.*1081T=) c.*1995T= (n.*1995T=) c.*1274T= (n.*1274T=) c.1107T= (p.Tyr369=) c.1951T= n.1197T= n.1545T= c.*1955T= (n.*1955T=) c.1431T= (p.Tyr477=) c.*2303T= (n.*2303T=) c.*2041T= (n.*2041T=) c.*392T= (n.*392T=) n.874T= c.1931T= c.1140T= (p.Tyr380=) c.1089T= (p.Tyr363=) c.2064T= (p.Tyr688=) | |
| 3 | g.37050546A= | CA1357891771 | MLH1 | c.1728A= (p.Ile576=) c.1870A= (p.Lys624=) c.1957A= (p.Lys653=) c.1441A= (p.Lys481=) c.2071A= (p.Lys691=) c.1999A= (p.Lys667=) c.2164A= (p.Lys722=) c.*1082A= (n.*1082A=) c.*1996A= (n.*1996A=) c.*1275A= (n.*1275A=) c.1108A= (p.Lys370=) c.1952A= n.1198A= n.1546A= c.*1956A= (n.*1956A=) c.1432A= (p.Lys478=) c.*2304A= (n.*2304A=) c.*2042A= (n.*2042A=) c.*393A= (n.*393A=) n.875A= c.1932A= c.1141A= (p.Lys381=) c.1090A= (p.Lys364=) c.2065A= (p.Lys689=) | |
| 3 | g.37050546A>C | CA352069282 | MLH1 | c.1728A>C (p.Ile576=) c.1870A>C (p.Lys624Gln) c.1957A>C (p.Lys653Gln) c.1441A>C (p.Lys481Gln) c.2071A>C (p.Lys691Gln) c.1999A>C (p.Lys667Gln) c.2164A>C (p.Lys722Gln) c.*1082A>C (n.*1082A>C) c.*1996A>C (n.*1996A>C) c.*1275A>C (n.*1275A>C) c.1108A>C (p.Lys370Gln) c.1952A>C n.1198A>C n.1546A>C c.*1956A>C (n.*1956A>C) c.1432A>C (p.Lys478Gln) c.*2304A>C (n.*2304A>C) c.*2042A>C (n.*2042A>C) c.*393A>C (n.*393A>C) n.875A>C c.1932A>C c.1141A>C (p.Lys381Gln) c.1090A>C (p.Lys364Gln) c.2065A>C (p.Lys689Gln) | |
| 3 | g.37050546A>G | CA033648 | MLH1 | c.1728A>G (p.Ile576Met) c.1870A>G (p.Lys624Glu) c.1957A>G (p.Lys653Glu) c.1441A>G (p.Lys481Glu) c.2071A>G (p.Lys691Glu) c.1999A>G (p.Lys667Glu) c.2164A>G (p.Lys722Glu) c.*1082A>G (n.*1082A>G) c.*1996A>G (n.*1996A>G) c.*1275A>G (n.*1275A>G) c.1108A>G (p.Lys370Glu) c.1952A>G n.1198A>G n.1546A>G c.*1956A>G (n.*1956A>G) c.1432A>G (p.Lys478Glu) c.*2304A>G (n.*2304A>G) c.*2042A>G (n.*2042A>G) c.*393A>G (n.*393A>G) n.875A>G c.1932A>G c.1141A>G (p.Lys381Glu) c.1090A>G (p.Lys364Glu) c.2065A>G (p.Lys689Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.37050546A>T | CA352069278 | MLH1 | c.1728A>T (p.Ile576=) c.1870A>T (p.Lys624Ter) c.1957A>T (p.Lys653Ter) c.1441A>T (p.Lys481Ter) c.2071A>T (p.Lys691Ter) c.1999A>T (p.Lys667Ter) c.2164A>T (p.Lys722Ter) c.*1082A>T (n.*1082A>T) c.*1996A>T (n.*1996A>T) c.*1275A>T (n.*1275A>T) c.1108A>T (p.Lys370Ter) c.1952A>T n.1198A>T n.1546A>T c.*1956A>T (n.*1956A>T) c.1432A>T (p.Lys478Ter) c.*2304A>T (n.*2304A>T) c.*2042A>T (n.*2042A>T) c.*393A>T (n.*393A>T) n.875A>T c.1932A>T c.1141A>T (p.Lys381Ter) c.1090A>T (p.Lys364Ter) c.2065A>T (p.Lys689Ter) | ClinVar dbSNP |
| 3 | g.37050548dup | CA2580069560 | MLH1 | c.1730dup (p.Pro578AlafsTer?) c.1872dup (p.Ala625SerfsTer10) c.1959dup (p.Ala654SerfsTer10) c.1443dup (p.Ala482SerfsTer10) c.2073dup (p.Ala692SerfsTer10) c.2001dup (p.Ala668SerfsTer10) c.2166dup (p.Ala723SerfsTer10) c.*1084dup (n.*1084dup) c.*1998dup (n.*1998dup) c.*1277dup (n.*1277dup) c.1110dup (p.Ala371SerfsTer10) c.1954dup n.1200dup n.1548dup c.*1958dup (n.*1958dup) c.1434dup (p.Ala479SerfsTer10) c.*2306dup (n.*2306dup) c.*2044dup (n.*2044dup) c.*395dup (n.*395dup) n.877dup c.1934dup c.1143dup (p.Ala382SerfsTer10) c.1092dup (p.Ala365SerfsTer10) c.2067dup (p.Ala690SerfsTer10) | ClinVar |
| 3 | g.37050547A>C | CA352069283 | MLH1 | c.1729A>C (p.Lys577Gln) c.1871A>C (p.Lys624Thr) c.1958A>C (p.Lys653Thr) c.1442A>C (p.Lys481Thr) c.2072A>C (p.Lys691Thr) c.2000A>C (p.Lys667Thr) c.2165A>C (p.Lys722Thr) c.*1083A>C (n.*1083A>C) c.*1997A>C (n.*1997A>C) c.*1276A>C (n.*1276A>C) c.1109A>C (p.Lys370Thr) c.1953A>C n.1199A>C n.1547A>C c.*1957A>C (n.*1957A>C) c.1433A>C (p.Lys478Thr) c.*2305A>C (n.*2305A>C) c.*2043A>C (n.*2043A>C) c.*394A>C (n.*394A>C) n.876A>C c.1933A>C c.1142A>C (p.Lys381Thr) c.1091A>C (p.Lys364Thr) c.2066A>C (p.Lys689Thr) | |
| 3 | g.37050547A>G | CA352069284 | MLH1 | c.1729A>G (p.Lys577Glu) c.1871A>G (p.Lys624Arg) c.1958A>G (p.Lys653Arg) c.1442A>G (p.Lys481Arg) c.2072A>G (p.Lys691Arg) c.2000A>G (p.Lys667Arg) c.2165A>G (p.Lys722Arg) c.*1083A>G (n.*1083A>G) c.*1997A>G (n.*1997A>G) c.*1276A>G (n.*1276A>G) c.1109A>G (p.Lys370Arg) c.1953A>G n.1199A>G n.1547A>G c.*1957A>G (n.*1957A>G) c.1433A>G (p.Lys478Arg) c.*2305A>G (n.*2305A>G) c.*2043A>G (n.*2043A>G) c.*394A>G (n.*394A>G) n.876A>G c.1933A>G c.1142A>G (p.Lys381Arg) c.1091A>G (p.Lys364Arg) c.2066A>G (p.Lys689Arg) | |
| 3 | g.37050547A>T | CA352069285 | MLH1 | c.1729A>T (p.Lys577Ter) c.1871A>T (p.Lys624Ile) c.1958A>T (p.Lys653Ile) c.1442A>T (p.Lys481Ile) c.2072A>T (p.Lys691Ile) c.2000A>T (p.Lys667Ile) c.2165A>T (p.Lys722Ile) c.*1083A>T (n.*1083A>T) c.*1997A>T (n.*1997A>T) c.*1276A>T (n.*1276A>T) c.1109A>T (p.Lys370Ile) c.1953A>T n.1199A>T n.1547A>T c.*1957A>T (n.*1957A>T) c.1433A>T (p.Lys478Ile) c.*2305A>T (n.*2305A>T) c.*2043A>T (n.*2043A>T) c.*394A>T (n.*394A>T) n.876A>T c.1933A>T c.1142A>T (p.Lys381Ile) c.1091A>T (p.Lys364Ile) c.2066A>T (p.Lys689Ile) | |
| 3 | g.37050547_37050550del | CA2586971988 | MLH1 | c.1729_1732del (p.Lys577LeufsTer9) c.1871_1874del (p.Lys624ThrfsTer?) c.1958_1961del (p.Lys653ThrfsTer?) c.1442_1445del (p.Lys481ThrfsTer?) c.2072_2075del (p.Lys691ThrfsTer?) c.2000_2003del (p.Lys667ThrfsTer?) c.2165_2168del (p.Lys722ThrfsTer?) c.*1083_*1086del (n.*1083_*1086del) c.*1997_*2000del (n.*1997_*2000del) c.*1276_*1279del (n.*1276_*1279del) c.1109_1112del (p.Lys370ThrfsTer?) c.1953_1956del n.1199_1202del n.1547_1550del c.*1957_*1960del (n.*1957_*1960del) c.1433_1436del (p.Lys478ThrfsTer?) c.*2305_*2308del (n.*2305_*2308del) c.*2043_*2046del (n.*2043_*2046del) c.*394_*397del (n.*394_*397del) n.876_879del c.1933_1936del c.1142_1145del (p.Lys381ThrfsTer?) c.1091_1094del (p.Lys364ThrfsTer?) c.2066_2069del (p.Lys689ThrfsTer?) | |
| 3 | g.37050548A>C | CA352069287 | MLH1 | c.1730A>C (p.Lys577Thr) c.1872A>C (p.Lys624Asn) c.1959A>C (p.Lys653Asn) c.1443A>C (p.Lys481Asn) c.2073A>C (p.Lys691Asn) c.2001A>C (p.Lys667Asn) c.2166A>C (p.Lys722Asn) c.*1084A>C (n.*1084A>C) c.*1998A>C (n.*1998A>C) c.*1277A>C (n.*1277A>C) c.1110A>C (p.Lys370Asn) c.1954A>C n.1200A>C n.1548A>C c.*1958A>C (n.*1958A>C) c.1434A>C (p.Lys478Asn) c.*2306A>C (n.*2306A>C) c.*2044A>C (n.*2044A>C) c.*395A>C (n.*395A>C) n.877A>C c.1934A>C c.1143A>C (p.Lys381Asn) c.1092A>C (p.Lys364Asn) c.2067A>C (p.Lys689Asn) | |
| 3 | g.37050548A>G | CA433086898 | MLH1 | c.1730A>G (p.Lys577Arg) c.1872A>G (p.Lys624=) c.1959A>G (p.Lys653=) c.1443A>G (p.Lys481=) c.2073A>G (p.Lys691=) c.2001A>G (p.Lys667=) c.2166A>G (p.Lys722=) c.*1084A>G (n.*1084A>G) c.*1998A>G (n.*1998A>G) c.*1277A>G (n.*1277A>G) c.1110A>G (p.Lys370=) c.1954A>G n.1200A>G n.1548A>G c.*1958A>G (n.*1958A>G) c.1434A>G (p.Lys478=) c.*2306A>G (n.*2306A>G) c.*2044A>G (n.*2044A>G) c.*395A>G (n.*395A>G) n.877A>G c.1934A>G c.1143A>G (p.Lys381=) c.1092A>G (p.Lys364=) c.2067A>G (p.Lys689=) | |
| 3 | g.37050548A>T | CA352069290 | MLH1 | c.1730A>T (p.Lys577Met) c.1872A>T (p.Lys624Asn) c.1959A>T (p.Lys653Asn) c.1443A>T (p.Lys481Asn) c.2073A>T (p.Lys691Asn) c.2001A>T (p.Lys667Asn) c.2166A>T (p.Lys722Asn) c.*1084A>T (n.*1084A>T) c.*1998A>T (n.*1998A>T) c.*1277A>T (n.*1277A>T) c.1110A>T (p.Lys370Asn) c.1954A>T n.1200A>T n.1548A>T c.*1958A>T (n.*1958A>T) c.1434A>T (p.Lys478Asn) c.*2306A>T (n.*2306A>T) c.*2044A>T (n.*2044A>T) c.*395A>T (n.*395A>T) n.877A>T c.1934A>T c.1143A>T (p.Lys381Asn) c.1092A>T (p.Lys364Asn) c.2067A>T (p.Lys689Asn) | dbSNP |
| 3 | g.37050549G>A | CA352069297 | MLH1 | c.1731G>A (p.Lys577=) c.1873G>A (p.Ala625Thr) c.1960G>A (p.Ala654Thr) c.1444G>A (p.Ala482Thr) c.2074G>A (p.Ala692Thr) c.2002G>A (p.Ala668Thr) c.2167G>A (p.Ala723Thr) c.*1085G>A (n.*1085G>A) c.*1999G>A (n.*1999G>A) c.*1278G>A (n.*1278G>A) c.1111G>A (p.Ala371Thr) c.1955G>A n.1201G>A n.1549G>A c.*1959G>A (n.*1959G>A) c.1435G>A (p.Ala479Thr) c.*2307G>A (n.*2307G>A) c.*2045G>A (n.*2045G>A) c.*396G>A (n.*396G>A) n.878G>A c.1935G>A c.1144G>A (p.Ala382Thr) c.1093G>A (p.Ala365Thr) c.2068G>A (p.Ala690Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.37050549G>C | CA352069299 | MLH1 | c.1731G>C (p.Lys577Asn) c.1873G>C (p.Ala625Pro) c.1960G>C (p.Ala654Pro) c.1444G>C (p.Ala482Pro) c.2074G>C (p.Ala692Pro) c.2002G>C (p.Ala668Pro) c.2167G>C (p.Ala723Pro) c.*1085G>C (n.*1085G>C) c.*1999G>C (n.*1999G>C) c.*1278G>C (n.*1278G>C) c.1111G>C (p.Ala371Pro) c.1955G>C n.1201G>C n.1549G>C c.*1959G>C (n.*1959G>C) c.1435G>C (p.Ala479Pro) c.*2307G>C (n.*2307G>C) c.*2045G>C (n.*2045G>C) c.*396G>C (n.*396G>C) n.878G>C c.1935G>C c.1144G>C (p.Ala382Pro) c.1093G>C (p.Ala365Pro) c.2068G>C (p.Ala690Pro) | dbSNP |
| 3 | g.37050549G= | CA1357891772 | MLH1 | c.1731G= (p.Lys577=) c.1873G= (p.Ala625=) c.1960G= (p.Ala654=) c.1444G= (p.Ala482=) c.2074G= (p.Ala692=) c.2002G= (p.Ala668=) c.2167G= (p.Ala723=) c.*1085G= (n.*1085G=) c.*1999G= (n.*1999G=) c.*1278G= (n.*1278G=) c.1111G= (p.Ala371=) c.1955G= n.1201G= n.1549G= c.*1959G= (n.*1959G=) c.1435G= (p.Ala479=) c.*2307G= (n.*2307G=) c.*2045G= (n.*2045G=) c.*396G= (n.*396G=) n.878G= c.1935G= c.1144G= (p.Ala382=) c.1093G= (p.Ala365=) c.2068G= (p.Ala690=) | |
| 3 | g.37050549G>T | CA352069302 | MLH1 | c.1731G>T (p.Lys577Asn) c.1873G>T (p.Ala625Ser) c.1960G>T (p.Ala654Ser) c.1444G>T (p.Ala482Ser) c.2074G>T (p.Ala692Ser) c.2002G>T (p.Ala668Ser) c.2167G>T (p.Ala723Ser) c.*1085G>T (n.*1085G>T) c.*1999G>T (n.*1999G>T) c.*1278G>T (n.*1278G>T) c.1111G>T (p.Ala371Ser) c.1955G>T n.1201G>T n.1549G>T c.*1959G>T (n.*1959G>T) c.1435G>T (p.Ala479Ser) c.*2307G>T (n.*2307G>T) c.*2045G>T (n.*2045G>T) c.*396G>T (n.*396G>T) n.878G>T c.1935G>T c.1144G>T (p.Ala382Ser) c.1093G>T (p.Ala365Ser) c.2068G>T (p.Ala690Ser) | |
| 3 | g.37050550C>A | CA352069305 | MLH1 | c.1732C>A (p.Pro578Thr) c.1874C>A (p.Ala625Asp) c.1961C>A (p.Ala654Asp) c.1445C>A (p.Ala482Asp) c.2075C>A (p.Ala692Asp) c.2003C>A (p.Ala668Asp) c.2168C>A (p.Ala723Asp) c.*1086C>A (n.*1086C>A) c.*2000C>A (n.*2000C>A) c.*1279C>A (n.*1279C>A) c.1112C>A (p.Ala371Asp) c.1956C>A n.1202C>A n.1550C>A c.*1960C>A (n.*1960C>A) c.1436C>A (p.Ala479Asp) c.*2308C>A (n.*2308C>A) c.*2046C>A (n.*2046C>A) c.*397C>A (n.*397C>A) n.879C>A c.1936C>A c.1145C>A (p.Ala382Asp) c.1094C>A (p.Ala365Asp) c.2069C>A (p.Ala690Asp) | dbSNP |
| 3 | g.37050550C>G | CA352069309 | MLH1 | c.1732C>G (p.Pro578Ala) c.1874C>G (p.Ala625Gly) c.1961C>G (p.Ala654Gly) c.1445C>G (p.Ala482Gly) c.2075C>G (p.Ala692Gly) c.2003C>G (p.Ala668Gly) c.2168C>G (p.Ala723Gly) c.*1086C>G (n.*1086C>G) c.*2000C>G (n.*2000C>G) c.*1279C>G (n.*1279C>G) c.1112C>G (p.Ala371Gly) c.1956C>G n.1202C>G n.1550C>G c.*1960C>G (n.*1960C>G) c.1436C>G (p.Ala479Gly) c.*2308C>G (n.*2308C>G) c.*2046C>G (n.*2046C>G) c.*397C>G (n.*397C>G) n.879C>G c.1936C>G c.1145C>G (p.Ala382Gly) c.1094C>G (p.Ala365Gly) c.2069C>G (p.Ala690Gly) | dbSNP |
| 3 | g.37050550C>T | CA352069312 | MLH1 | c.1732C>T (p.Pro578Ser) c.1874C>T (p.Ala625Val) c.1961C>T (p.Ala654Val) c.1445C>T (p.Ala482Val) c.2075C>T (p.Ala692Val) c.2003C>T (p.Ala668Val) c.2168C>T (p.Ala723Val) c.*1086C>T (n.*1086C>T) c.*2000C>T (n.*2000C>T) c.*1279C>T (n.*1279C>T) c.1112C>T (p.Ala371Val) c.1956C>T n.1202C>T n.1550C>T c.*1960C>T (n.*1960C>T) c.1436C>T (p.Ala479Val) c.*2308C>T (n.*2308C>T) c.*2046C>T (n.*2046C>T) c.*397C>T (n.*397C>T) n.879C>T c.1936C>T c.1145C>T (p.Ala382Val) c.1094C>T (p.Ala365Val) c.2069C>T (p.Ala690Val) | dbSNP |
| 3 | g.37050551C>A | CA433086899 | MLH1 | c.1733C>A (p.Pro578His) c.1875C>A (p.Ala625=) c.1962C>A (p.Ala654=) c.1446C>A (p.Ala482=) c.2076C>A (p.Ala692=) c.2004C>A (p.Ala668=) c.2169C>A (p.Ala723=) c.*1087C>A (n.*1087C>A) c.*2001C>A (n.*2001C>A) c.*1280C>A (n.*1280C>A) c.1113C>A (p.Ala371=) c.1957C>A n.1203C>A n.1551C>A c.*1961C>A (n.*1961C>A) c.1437C>A (p.Ala479=) c.*2309C>A (n.*2309C>A) c.*2047C>A (n.*2047C>A) c.*398C>A (n.*398C>A) n.880C>A c.1937C>A c.1146C>A (p.Ala382=) c.1095C>A (p.Ala365=) c.2070C>A (p.Ala690=) | dbSNP |
| 3 | g.37050551C= | CA1357891773 | MLH1 | c.1733C= (p.Pro578=) c.1875C= (p.Ala625=) c.1962C= (p.Ala654=) c.1446C= (p.Ala482=) c.2076C= (p.Ala692=) c.2004C= (p.Ala668=) c.2169C= (p.Ala723=) c.*1087C= (n.*1087C=) c.*2001C= (n.*2001C=) c.*1280C= (n.*1280C=) c.1113C= (p.Ala371=) c.1957C= n.1203C= n.1551C= c.*1961C= (n.*1961C=) c.1437C= (p.Ala479=) c.*2309C= (n.*2309C=) c.*2047C= (n.*2047C=) c.*398C= (n.*398C=) n.880C= c.1937C= c.1146C= (p.Ala382=) c.1095C= (p.Ala365=) c.2070C= (p.Ala690=) | |
| 3 | g.37050551C>G | CA433086900 | MLH1 | c.1733C>G (p.Pro578Arg) c.1875C>G (p.Ala625=) c.1962C>G (p.Ala654=) c.1446C>G (p.Ala482=) c.2076C>G (p.Ala692=) c.2004C>G (p.Ala668=) c.2169C>G (p.Ala723=) c.*1087C>G (n.*1087C>G) c.*2001C>G (n.*2001C>G) c.*1280C>G (n.*1280C>G) c.1113C>G (p.Ala371=) c.1957C>G n.1203C>G n.1551C>G c.*1961C>G (n.*1961C>G) c.1437C>G (p.Ala479=) c.*2309C>G (n.*2309C>G) c.*2047C>G (n.*2047C>G) c.*398C>G (n.*398C>G) n.880C>G c.1937C>G c.1146C>G (p.Ala382=) c.1095C>G (p.Ala365=) c.2070C>G (p.Ala690=) | |
| 3 | g.37050551C>T | CA033665 | MLH1 | c.1733C>T (p.Pro578Leu) c.1875C>T (p.Ala625=) c.1962C>T (p.Ala654=) c.1446C>T (p.Ala482=) c.2076C>T (p.Ala692=) c.2004C>T (p.Ala668=) c.2169C>T (p.Ala723=) c.*1087C>T (n.*1087C>T) c.*2001C>T (n.*2001C>T) c.*1280C>T (n.*1280C>T) c.1113C>T (p.Ala371=) c.1957C>T n.1203C>T n.1551C>T c.*1961C>T (n.*1961C>T) c.1437C>T (p.Ala479=) c.*2309C>T (n.*2309C>T) c.*2047C>T (n.*2047C>T) c.*398C>T (n.*398C>T) n.880C>T c.1937C>T c.1146C>T (p.Ala382=) c.1095C>T (p.Ala365=) c.2070C>T (p.Ala690=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.37050552T>A | CA008984 | MLH1 | c.1734T>A (p.Pro578=) c.1876T>A (p.Leu626Met) c.1963T>A (p.Leu655Met) c.1447T>A (p.Leu483Met) c.2077T>A (p.Leu693Met) c.2005T>A (p.Leu669Met) c.2170T>A (p.Leu724Met) c.*1088T>A (n.*1088T>A) c.*2002T>A (n.*2002T>A) c.*1281T>A (n.*1281T>A) c.1114T>A (p.Leu372Met) c.1958T>A n.1204T>A n.1552T>A c.*1962T>A (n.*1962T>A) c.1438T>A (p.Leu480Met) c.*2310T>A (n.*2310T>A) c.*2048T>A (n.*2048T>A) c.*399T>A (n.*399T>A) n.881T>A c.1938T>A c.1147T>A (p.Leu383Met) c.1096T>A (p.Leu366Met) c.2071T>A (p.Leu691Met) | dbSNP |
| 3 | g.37050552T>C | CA433086901 | MLH1 | c.1734T>C (p.Pro578=) c.1876T>C (p.Leu626=) c.1963T>C (p.Leu655=) c.1447T>C (p.Leu483=) c.2077T>C (p.Leu693=) c.2005T>C (p.Leu669=) c.2170T>C (p.Leu724=) c.*1088T>C (n.*1088T>C) c.*2002T>C (n.*2002T>C) c.*1281T>C (n.*1281T>C) c.1114T>C (p.Leu372=) c.1958T>C n.1204T>C n.1552T>C c.*1962T>C (n.*1962T>C) c.1438T>C (p.Leu480=) c.*2310T>C (n.*2310T>C) c.*2048T>C (n.*2048T>C) c.*399T>C (n.*399T>C) n.881T>C c.1938T>C c.1147T>C (p.Leu383=) c.1096T>C (p.Leu366=) c.2071T>C (p.Leu691=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.37050552T>G | CA352069318 | MLH1 | c.1734T>G (p.Pro578=) c.1876T>G (p.Leu626Val) c.1963T>G (p.Leu655Val) c.1447T>G (p.Leu483Val) c.2077T>G (p.Leu693Val) c.2005T>G (p.Leu669Val) c.2170T>G (p.Leu724Val) c.*1088T>G (n.*1088T>G) c.*2002T>G (n.*2002T>G) c.*1281T>G (n.*1281T>G) c.1114T>G (p.Leu372Val) c.1958T>G n.1204T>G n.1552T>G c.*1962T>G (n.*1962T>G) c.1438T>G (p.Leu480Val) c.*2310T>G (n.*2310T>G) c.*2048T>G (n.*2048T>G) c.*399T>G (n.*399T>G) n.881T>G c.1938T>G c.1147T>G (p.Leu383Val) c.1096T>G (p.Leu366Val) c.2071T>G (p.Leu691Val) | ClinVar |
| 3 | g.37050552T= | CA1357891774 | MLH1 | c.1734T= (p.Pro578=) c.1876T= (p.Leu626=) c.1963T= (p.Leu655=) c.1447T= (p.Leu483=) c.2077T= (p.Leu693=) c.2005T= (p.Leu669=) c.2170T= (p.Leu724=) c.*1088T= (n.*1088T=) c.*2002T= (n.*2002T=) c.*1281T= (n.*1281T=) c.1114T= (p.Leu372=) c.1958T= n.1204T= n.1552T= c.*1962T= (n.*1962T=) c.1438T= (p.Leu480=) c.*2310T= (n.*2310T=) c.*2048T= (n.*2048T=) c.*399T= (n.*399T=) n.881T= c.1938T= c.1147T= (p.Leu383=) c.1096T= (p.Leu366=) c.2071T= (p.Leu691=) | |
| 3 | g.37050553T>A | CA352069326 | MLH1 | c.1735T>A (p.Cys579Ser) c.1877T>A (p.Leu626Ter) c.1964T>A (p.Leu655Ter) c.1448T>A (p.Leu483Ter) c.2078T>A (p.Leu693Ter) c.2006T>A (p.Leu669Ter) c.2171T>A (p.Leu724Ter) c.*1089T>A (n.*1089T>A) c.*2003T>A (n.*2003T>A) c.*1282T>A (n.*1282T>A) c.1115T>A (p.Leu372Ter) c.1959T>A n.1205T>A n.1553T>A c.*1963T>A (n.*1963T>A) c.1439T>A (p.Leu480Ter) c.*2311T>A (n.*2311T>A) c.*2049T>A (n.*2049T>A) c.*400T>A (n.*400T>A) n.882T>A c.1939T>A c.1148T>A (p.Leu383Ter) c.1097T>A (p.Leu366Ter) c.2072T>A (p.Leu691Ter) | |
| 3 | g.37050553T>C | CA352069329 | MLH1 | c.1735T>C (p.Cys579Arg) c.1877T>C (p.Leu626Ser) c.1964T>C (p.Leu655Ser) c.1448T>C (p.Leu483Ser) c.2078T>C (p.Leu693Ser) c.2006T>C (p.Leu669Ser) c.2171T>C (p.Leu724Ser) c.*1089T>C (n.*1089T>C) c.*2003T>C (n.*2003T>C) c.*1282T>C (n.*1282T>C) c.1115T>C (p.Leu372Ser) c.1959T>C n.1205T>C n.1553T>C c.*1963T>C (n.*1963T>C) c.1439T>C (p.Leu480Ser) c.*2311T>C (n.*2311T>C) c.*2049T>C (n.*2049T>C) c.*400T>C (n.*400T>C) n.882T>C c.1939T>C c.1148T>C (p.Leu383Ser) c.1097T>C (p.Leu366Ser) c.2072T>C (p.Leu691Ser) | ClinVar |
| 3 | g.37050553T>G | CA352069331 | MLH1 | c.1735T>G (p.Cys579Gly) c.1877T>G (p.Leu626Trp) c.1964T>G (p.Leu655Trp) c.1448T>G (p.Leu483Trp) c.2078T>G (p.Leu693Trp) c.2006T>G (p.Leu669Trp) c.2171T>G (p.Leu724Trp) c.*1089T>G (n.*1089T>G) c.*2003T>G (n.*2003T>G) c.*1282T>G (n.*1282T>G) c.1115T>G (p.Leu372Trp) c.1959T>G n.1205T>G n.1553T>G c.*1963T>G (n.*1963T>G) c.1439T>G (p.Leu480Trp) c.*2311T>G (n.*2311T>G) c.*2049T>G (n.*2049T>G) c.*400T>G (n.*400T>G) n.882T>G c.1939T>G c.1148T>G (p.Leu383Trp) c.1097T>G (p.Leu366Trp) c.2072T>G (p.Leu691Trp) | COSMIC |
| 3 | g.37050554_37050575del | CA2580069561 | MLH1 | c.1736_1757del (p.Cys579Ter) c.1878_1899del (p.Arg627AsnfsTer?) c.1965_1986del (p.Arg656AsnfsTer?) c.1449_1470del (p.Arg484AsnfsTer?) c.2079_2100del (p.Arg694AsnfsTer?) c.2007_2028del (p.Arg670AsnfsTer?) c.2172_2193del (p.Arg725AsnfsTer?) c.*1090_*1111del (n.*1090_*1111del) c.*2004_*2025del (n.*2004_*2025del) c.*1283_*1304del (n.*1283_*1304del) c.1116_1137del (p.Arg373AsnfsTer?) c.1960_1981del n.1206_1227del n.1554_1575del c.*1964_*1985del (n.*1964_*1985del) c.1440_1461del (p.Arg481AsnfsTer?) c.*2312_*2333del (n.*2312_*2333del) c.*2050_*2071del (n.*2050_*2071del) c.*401_*422del (n.*401_*422del) n.883_904del c.1940_1961del c.1149_1170del (p.Arg384AsnfsTer?) c.1098_1119del (p.Arg367AsnfsTer?) c.2073_2094del (p.Arg692AsnfsTer?) | ClinVar |
| 3 | g.37050554del | CA2580069563 | MLH1 | c.1736del (p.Cys579SerfsTer8) c.1878del (p.Leu626PhefsTer?) c.1965del (p.Leu655PhefsTer?) c.1449del (p.Leu483PhefsTer?) c.2079del (p.Leu693PhefsTer?) c.2007del (p.Leu669PhefsTer?) c.2172del (p.Leu724PhefsTer?) c.*1090del (n.*1090del) c.*2004del (n.*2004del) c.*1283del (n.*1283del) c.1116del (p.Leu372PhefsTer?) c.1960del n.1206del n.1554del c.*1964del (n.*1964del) c.1440del (p.Leu480PhefsTer?) c.*2312del (n.*2312del) c.*2050del (n.*2050del) c.*401del (n.*401del) n.883del c.1940del c.1149del (p.Leu383PhefsTer?) c.1098del (p.Leu366PhefsTer?) c.2073del (p.Leu691PhefsTer?) | ClinVar |
| 3 | g.37050554G>A | CA033680 | MLH1 | c.1736G>A (p.Cys579Tyr) c.1878G>A (p.Leu626=) c.1965G>A (p.Leu655=) c.1449G>A (p.Leu483=) c.2079G>A (p.Leu693=) c.2007G>A (p.Leu669=) c.2172G>A (p.Leu724=) c.*1090G>A (n.*1090G>A) c.*2004G>A (n.*2004G>A) c.*1283G>A (n.*1283G>A) c.1116G>A (p.Leu372=) c.1960G>A n.1206G>A n.1554G>A c.*1964G>A (n.*1964G>A) c.1440G>A (p.Leu480=) c.*2312G>A (n.*2312G>A) c.*2050G>A (n.*2050G>A) c.*401G>A (n.*401G>A) n.883G>A c.1940G>A c.1149G>A (p.Leu383=) c.1098G>A (p.Leu366=) c.2073G>A (p.Leu691=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |