| 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?) | |
| 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) | |
| 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_37050543del | CA2580069556 | MLH1 | c.1722_1725del (p.Ser575Ter) c.1864_1867del (p.Val622IlefsTer?) c.1951_1954del (p.Val651IlefsTer?) c.1435_1438del (p.Val479IlefsTer?) c.2065_2068del (p.Val689IlefsTer?) c.1993_1996del (p.Val665IlefsTer?) c.2158_2161del (p.Val720IlefsTer?) c.*1076_*1079del (n.*1076_*1079del) c.*1990_*1993del (n.*1990_*1993del) c.*1269_*1272del (n.*1269_*1272del) c.1102_1105del (p.Val368IlefsTer?) c.1946_1949del n.1192_1195del n.1540_1543del c.*1950_*1953del (n.*1950_*1953del) c.1426_1429del (p.Val476IlefsTer?) c.*2298_*2301del (n.*2298_*2301del) c.*2036_*2039del (n.*2036_*2039del) c.*387_*390del (n.*387_*390del) n.869_872del c.1926_1929del c.1135_1138del (p.Val379IlefsTer?) c.1084_1087del (p.Val362IlefsTer?) c.2059_2062del (p.Val687IlefsTer?) | 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.37050541T>A | CA352069241 | MLH1 | c.1723T>A (p.Ser575Thr) c.1865T>A (p.Val622Asp) c.1952T>A (p.Val651Asp) c.1436T>A (p.Val479Asp) c.2066T>A (p.Val689Asp) c.1994T>A (p.Val665Asp) c.2159T>A (p.Val720Asp) c.*1077T>A (n.*1077T>A) c.*1991T>A (n.*1991T>A) c.*1270T>A (n.*1270T>A) c.1103T>A (p.Val368Asp) c.1947T>A n.1193T>A n.1541T>A c.*1951T>A (n.*1951T>A) c.1427T>A (p.Val476Asp) c.*2299T>A (n.*2299T>A) c.*2037T>A (n.*2037T>A) c.*388T>A (n.*388T>A) n.870T>A c.1927T>A c.1136T>A (p.Val379Asp) c.1085T>A (p.Val362Asp) c.2060T>A (p.Val687Asp) | ClinVar dbSNP |
| 3 | g.37050541T>C | CA352069243 | MLH1 | c.1723T>C (p.Ser575Pro) c.1865T>C (p.Val622Ala) c.1952T>C (p.Val651Ala) c.1436T>C (p.Val479Ala) c.2066T>C (p.Val689Ala) c.1994T>C (p.Val665Ala) c.2159T>C (p.Val720Ala) c.*1077T>C (n.*1077T>C) c.*1991T>C (n.*1991T>C) c.*1270T>C (n.*1270T>C) c.1103T>C (p.Val368Ala) c.1947T>C n.1193T>C n.1541T>C c.*1951T>C (n.*1951T>C) c.1427T>C (p.Val476Ala) c.*2299T>C (n.*2299T>C) c.*2037T>C (n.*2037T>C) c.*388T>C (n.*388T>C) n.870T>C c.1927T>C c.1136T>C (p.Val379Ala) c.1085T>C (p.Val362Ala) c.2060T>C (p.Val687Ala) | ClinVar dbSNP |
| 3 | g.37050541T>G | CA008948 | MLH1 | c.1723T>G (p.Ser575Ala) c.1865T>G (p.Val622Gly) c.1952T>G (p.Val651Gly) c.1436T>G (p.Val479Gly) c.2066T>G (p.Val689Gly) c.1994T>G (p.Val665Gly) c.2159T>G (p.Val720Gly) c.*1077T>G (n.*1077T>G) c.*1991T>G (n.*1991T>G) c.*1270T>G (n.*1270T>G) c.1103T>G (p.Val368Gly) c.1947T>G n.1193T>G n.1541T>G c.*1951T>G (n.*1951T>G) c.1427T>G (p.Val476Gly) c.*2299T>G (n.*2299T>G) c.*2037T>G (n.*2037T>G) c.*388T>G (n.*388T>G) n.870T>G c.1927T>G c.1136T>G (p.Val379Gly) c.1085T>G (p.Val362Gly) c.2060T>G (p.Val687Gly) | ClinVar dbSNP |
| 3 | g.37050541T= | CA1357891764 | MLH1 | c.1723T= (p.Ser575=) c.1865T= (p.Val622=) c.1952T= (p.Val651=) c.1436T= (p.Val479=) c.2066T= (p.Val689=) c.1994T= (p.Val665=) c.2159T= (p.Val720=) c.*1077T= (n.*1077T=) c.*1991T= (n.*1991T=) c.*1270T= (n.*1270T=) c.1103T= (p.Val368=) c.1947T= n.1193T= n.1541T= c.*1951T= (n.*1951T=) c.1427T= (p.Val476=) c.*2299T= (n.*2299T=) c.*2037T= (n.*2037T=) c.*388T= (n.*388T=) n.870T= c.1927T= c.1136T= (p.Val379=) c.1085T= (p.Val362=) c.2060T= (p.Val687=) | |
| 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.37050542C>A | CA433086882 | MLH1 | c.1724C>A (p.Ser575Tyr) c.1866C>A (p.Val622=) c.1953C>A (p.Val651=) c.1437C>A (p.Val479=) c.2067C>A (p.Val689=) c.1995C>A (p.Val665=) c.2160C>A (p.Val720=) c.*1078C>A (n.*1078C>A) c.*1992C>A (n.*1992C>A) c.*1271C>A (n.*1271C>A) c.1104C>A (p.Val368=) c.1948C>A n.1194C>A n.1542C>A c.*1952C>A (n.*1952C>A) c.1428C>A (p.Val476=) c.*2300C>A (n.*2300C>A) c.*2038C>A (n.*2038C>A) c.*389C>A (n.*389C>A) n.871C>A c.1928C>A c.1137C>A (p.Val379=) c.1086C>A (p.Val362=) c.2061C>A (p.Val687=) | ClinVar |
| 3 | g.37050542C= | CA1357891765 | MLH1 | c.1724C= (p.Ser575=) c.1866C= (p.Val622=) c.1953C= (p.Val651=) c.1437C= (p.Val479=) c.2067C= (p.Val689=) c.1995C= (p.Val665=) c.2160C= (p.Val720=) c.*1078C= (n.*1078C=) c.*1992C= (n.*1992C=) c.*1271C= (n.*1271C=) c.1104C= (p.Val368=) c.1948C= n.1194C= n.1542C= c.*1952C= (n.*1952C=) c.1428C= (p.Val476=) c.*2300C= (n.*2300C=) c.*2038C= (n.*2038C=) c.*389C= (n.*389C=) n.871C= c.1928C= c.1137C= (p.Val379=) c.1086C= (p.Val362=) c.2061C= (p.Val687=) | |
| 3 | g.37050542C>G | CA433086883 | MLH1 | c.1724C>G (p.Ser575Cys) c.1866C>G (p.Val622=) c.1953C>G (p.Val651=) c.1437C>G (p.Val479=) c.2067C>G (p.Val689=) c.1995C>G (p.Val665=) c.2160C>G (p.Val720=) c.*1078C>G (n.*1078C>G) c.*1992C>G (n.*1992C>G) c.*1271C>G (n.*1271C>G) c.1104C>G (p.Val368=) c.1948C>G n.1194C>G n.1542C>G c.*1952C>G (n.*1952C>G) c.1428C>G (p.Val476=) c.*2300C>G (n.*2300C>G) c.*2038C>G (n.*2038C>G) c.*389C>G (n.*389C>G) n.871C>G c.1928C>G c.1137C>G (p.Val379=) c.1086C>G (p.Val362=) c.2061C>G (p.Val687=) | ClinVar dbSNP |
| 3 | g.37050542C>T | CA433086884 | MLH1 | c.1724C>T (p.Ser575Phe) c.1866C>T (p.Val622=) c.1953C>T (p.Val651=) c.1437C>T (p.Val479=) c.2067C>T (p.Val689=) c.1995C>T (p.Val665=) c.2160C>T (p.Val720=) c.*1078C>T (n.*1078C>T) c.*1992C>T (n.*1992C>T) c.*1271C>T (n.*1271C>T) c.1104C>T (p.Val368=) c.1948C>T n.1194C>T n.1542C>T c.*1952C>T (n.*1952C>T) c.1428C>T (p.Val476=) c.*2300C>T (n.*2300C>T) c.*2038C>T (n.*2038C>T) c.*389C>T (n.*389C>T) n.871C>T c.1928C>T c.1137C>T (p.Val379=) c.1086C>T (p.Val362=) c.2061C>T (p.Val687=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.37050542_37050543insATT | CA2551937243 | MLH1 | c.1724_1725insATT (p.Ser575_Ile576insPhe) c.1866_1867insATT (p.Val622_Tyr623insIle) c.1953_1954insATT (p.Val651_Tyr652insIle) c.1437_1438insATT (p.Val479_Tyr480insIle) c.2067_2068insATT (p.Val689_Tyr690insIle) c.1995_1996insATT (p.Val665_Tyr666insIle) c.2160_2161insATT (p.Val720_Tyr721insIle) c.*1078_*1079insATT (n.*1078_*1079insATT) c.*1992_*1993insATT (n.*1992_*1993insATT) c.*1271_*1272insATT (n.*1271_*1272insATT) c.1104_1105insATT (p.Val368_Tyr369insIle) c.1948_1949insATT n.1194_1195insATT n.1542_1543insATT c.*1952_*1953insATT (n.*1952_*1953insATT) c.1428_1429insATT (p.Val476_Tyr477insIle) c.*2300_*2301insATT (n.*2300_*2301insATT) c.*2038_*2039insATT (n.*2038_*2039insATT) c.*389_*390insATT (n.*389_*390insATT) n.871_872insATT c.1928_1929insATT c.1137_1138insATT (p.Val379_Tyr380insIle) c.1086_1087insATT (p.Val362_Tyr363insIle) c.2061_2062insATT (p.Val687_Tyr688insIle) | |
| 3 | g.37050543T>A | CA352069252 | MLH1 | c.1725T>A (p.Ser575=) c.1867T>A (p.Tyr623Asn) c.1954T>A (p.Tyr652Asn) c.1438T>A (p.Tyr480Asn) c.2068T>A (p.Tyr690Asn) c.1996T>A (p.Tyr666Asn) c.2161T>A (p.Tyr721Asn) c.*1079T>A (n.*1079T>A) c.*1993T>A (n.*1993T>A) c.*1272T>A (n.*1272T>A) c.1105T>A (p.Tyr369Asn) c.1949T>A n.1195T>A n.1543T>A c.*1953T>A (n.*1953T>A) c.1429T>A (p.Tyr477Asn) c.*2301T>A (n.*2301T>A) c.*2039T>A (n.*2039T>A) c.*390T>A (n.*390T>A) n.872T>A c.1929T>A c.1138T>A (p.Tyr380Asn) c.1087T>A (p.Tyr363Asn) c.2062T>A (p.Tyr688Asn) | dbSNP |
| 3 | g.37050543T>C | CA352069255 | MLH1 | c.1725T>C (p.Ser575=) c.1867T>C (p.Tyr623His) c.1954T>C (p.Tyr652His) c.1438T>C (p.Tyr480His) c.2068T>C (p.Tyr690His) c.1996T>C (p.Tyr666His) c.2161T>C (p.Tyr721His) c.*1079T>C (n.*1079T>C) c.*1993T>C (n.*1993T>C) c.*1272T>C (n.*1272T>C) c.1105T>C (p.Tyr369His) c.1949T>C n.1195T>C n.1543T>C c.*1953T>C (n.*1953T>C) c.1429T>C (p.Tyr477His) c.*2301T>C (n.*2301T>C) c.*2039T>C (n.*2039T>C) c.*390T>C (n.*390T>C) n.872T>C c.1929T>C c.1138T>C (p.Tyr380His) c.1087T>C (p.Tyr363His) c.2062T>C (p.Tyr688His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.37050543T>G | CA352069257 | MLH1 | c.1725T>G (p.Ser575=) c.1867T>G (p.Tyr623Asp) c.1954T>G (p.Tyr652Asp) c.1438T>G (p.Tyr480Asp) c.2068T>G (p.Tyr690Asp) c.1996T>G (p.Tyr666Asp) c.2161T>G (p.Tyr721Asp) c.*1079T>G (n.*1079T>G) c.*1993T>G (n.*1993T>G) c.*1272T>G (n.*1272T>G) c.1105T>G (p.Tyr369Asp) c.1949T>G n.1195T>G n.1543T>G c.*1953T>G (n.*1953T>G) c.1429T>G (p.Tyr477Asp) c.*2301T>G (n.*2301T>G) c.*2039T>G (n.*2039T>G) c.*390T>G (n.*390T>G) n.872T>G c.1929T>G c.1138T>G (p.Tyr380Asp) c.1087T>G (p.Tyr363Asp) c.2062T>G (p.Tyr688Asp) | |
| 3 | g.37050543T= | CA1357891767 | MLH1 | c.1725T= (p.Ser575=) c.1867T= (p.Tyr623=) c.1954T= (p.Tyr652=) c.1438T= (p.Tyr480=) c.2068T= (p.Tyr690=) c.1996T= (p.Tyr666=) c.2161T= (p.Tyr721=) c.*1079T= (n.*1079T=) c.*1993T= (n.*1993T=) c.*1272T= (n.*1272T=) c.1105T= (p.Tyr369=) c.1949T= n.1195T= n.1543T= c.*1953T= (n.*1953T=) c.1429T= (p.Tyr477=) c.*2301T= (n.*2301T=) c.*2039T= (n.*2039T=) c.*390T= (n.*390T=) n.872T= c.1929T= c.1138T= (p.Tyr380=) c.1087T= (p.Tyr363=) c.2062T= (p.Tyr688=) | |
| 3 | g.37050543_37050544delinsTA | CA1357891768 | MLH1 | c.1725_1726delinsTA (p.Ser575=) c.1867_1868delinsTA (p.Tyr623=) c.1954_1955delinsTA (p.Tyr652=) c.1438_1439delinsTA (p.Tyr480=) c.2068_2069delinsTA (p.Tyr690=) c.1996_1997delinsTA (p.Tyr666=) c.2161_2162delinsTA (p.Tyr721=) c.*1079_*1080delinsTA (n.*1079_*1080delinsTA) c.*1993_*1994delinsTA (n.*1993_*1994delinsTA) c.*1272_*1273delinsTA (n.*1272_*1273delinsTA) c.1105_1106delinsTA (p.Tyr369=) c.1949_1950delinsTA n.1195_1196delinsTA n.1543_1544delinsTA c.*1953_*1954delinsTA (n.*1953_*1954delinsTA) c.1429_1430delinsTA (p.Tyr477=) c.*2301_*2302delinsTA (n.*2301_*2302delinsTA) c.*2039_*2040delinsTA (n.*2039_*2040delinsTA) c.*390_*391delinsTA (n.*390_*391delinsTA) n.872_873delinsTA c.1929_1930delinsTA c.1138_1139delinsTA (p.Tyr380=) c.1087_1088delinsTA (p.Tyr363=) c.2062_2063delinsTA (p.Tyr688=) | |
| 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.37050544del | CA008964 | MLH1 | c.1726del (p.Ile576Ter) c.1868del (p.Tyr623LeufsTer?) c.1955del (p.Tyr652LeufsTer?) c.1439del (p.Tyr480LeufsTer?) c.2069del (p.Tyr690LeufsTer?) c.1997del (p.Tyr666LeufsTer?) c.2162del (p.Tyr721LeufsTer?) c.*1080del (n.*1080del) c.*1994del (n.*1994del) c.*1273del (n.*1273del) c.1106del (p.Tyr369LeufsTer?) c.1950del n.1196del n.1544del c.*1954del (n.*1954del) c.1430del (p.Tyr477LeufsTer?) c.*2302del (n.*2302del) c.*2040del (n.*2040del) c.*391del (n.*391del) n.873del c.1930del c.1139del (p.Tyr380LeufsTer?) c.1088del (p.Tyr363LeufsTer?) c.2063del (p.Tyr688LeufsTer?) | ClinVar dbSNP |
| 3 | g.37050544A= | CA1357891769 | MLH1 | c.1726A= (p.Ile576=) c.1868A= (p.Tyr623=) c.1955A= (p.Tyr652=) c.1439A= (p.Tyr480=) c.2069A= (p.Tyr690=) c.1997A= (p.Tyr666=) c.2162A= (p.Tyr721=) c.*1080A= (n.*1080A=) c.*1994A= (n.*1994A=) c.*1273A= (n.*1273A=) c.1106A= (p.Tyr369=) c.1950A= n.1196A= n.1544A= c.*1954A= (n.*1954A=) c.1430A= (p.Tyr477=) c.*2302A= (n.*2302A=) c.*2040A= (n.*2040A=) c.*391A= (n.*391A=) n.873A= c.1930A= c.1139A= (p.Tyr380=) c.1088A= (p.Tyr363=) c.2063A= (p.Tyr688=) | |
| 3 | g.37050544A>C | CA72813613 | MLH1 | c.1726A>C (p.Ile576Leu) c.1868A>C (p.Tyr623Ser) c.1955A>C (p.Tyr652Ser) c.1439A>C (p.Tyr480Ser) c.2069A>C (p.Tyr690Ser) c.1997A>C (p.Tyr666Ser) c.2162A>C (p.Tyr721Ser) c.*1080A>C (n.*1080A>C) c.*1994A>C (n.*1994A>C) c.*1273A>C (n.*1273A>C) c.1106A>C (p.Tyr369Ser) c.1950A>C n.1196A>C n.1544A>C c.*1954A>C (n.*1954A>C) c.1430A>C (p.Tyr477Ser) c.*2302A>C (n.*2302A>C) c.*2040A>C (n.*2040A>C) c.*391A>C (n.*391A>C) n.873A>C c.1930A>C c.1139A>C (p.Tyr380Ser) c.1088A>C (p.Tyr363Ser) c.2063A>C (p.Tyr688Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.37050544A>G | CA008958 | MLH1 | c.1726A>G (p.Ile576Val) c.1868A>G (p.Tyr623Cys) c.1955A>G (p.Tyr652Cys) c.1439A>G (p.Tyr480Cys) c.2069A>G (p.Tyr690Cys) c.1997A>G (p.Tyr666Cys) c.2162A>G (p.Tyr721Cys) c.*1080A>G (n.*1080A>G) c.*1994A>G (n.*1994A>G) c.*1273A>G (n.*1273A>G) c.1106A>G (p.Tyr369Cys) c.1950A>G n.1196A>G n.1544A>G c.*1954A>G (n.*1954A>G) c.1430A>G (p.Tyr477Cys) c.*2302A>G (n.*2302A>G) c.*2040A>G (n.*2040A>G) c.*391A>G (n.*391A>G) n.873A>G c.1930A>G c.1139A>G (p.Tyr380Cys) c.1088A>G (p.Tyr363Cys) c.2063A>G (p.Tyr688Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.37050544A>T | CA352069268 | MLH1 | c.1726A>T (p.Ile576Leu) c.1868A>T (p.Tyr623Phe) c.1955A>T (p.Tyr652Phe) c.1439A>T (p.Tyr480Phe) c.2069A>T (p.Tyr690Phe) c.1997A>T (p.Tyr666Phe) c.2162A>T (p.Tyr721Phe) c.*1080A>T (n.*1080A>T) c.*1994A>T (n.*1994A>T) c.*1273A>T (n.*1273A>T) c.1106A>T (p.Tyr369Phe) c.1950A>T n.1196A>T n.1544A>T c.*1954A>T (n.*1954A>T) c.1430A>T (p.Tyr477Phe) c.*2302A>T (n.*2302A>T) c.*2040A>T (n.*2040A>T) c.*391A>T (n.*391A>T) n.873A>T c.1930A>T c.1139A>T (p.Tyr380Phe) c.1088A>T (p.Tyr363Phe) c.2063A>T (p.Tyr688Phe) | dbSNP |
| 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 |