| 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_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_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.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 |
| 3 | g.37050554G>C | CA352069338 | MLH1 | c.1736G>C (p.Cys579Ser) c.1878G>C (p.Leu626Phe) c.1965G>C (p.Leu655Phe) c.1449G>C (p.Leu483Phe) c.2079G>C (p.Leu693Phe) c.2007G>C (p.Leu669Phe) c.2172G>C (p.Leu724Phe) c.*1090G>C (n.*1090G>C) c.*2004G>C (n.*2004G>C) c.*1283G>C (n.*1283G>C) c.1116G>C (p.Leu372Phe) c.1960G>C n.1206G>C n.1554G>C c.*1964G>C (n.*1964G>C) c.1440G>C (p.Leu480Phe) c.*2312G>C (n.*2312G>C) c.*2050G>C (n.*2050G>C) c.*401G>C (n.*401G>C) n.883G>C c.1940G>C c.1149G>C (p.Leu383Phe) c.1098G>C (p.Leu366Phe) c.2073G>C (p.Leu691Phe) | |
| 3 | g.37050554G= | CA1357891775 | MLH1 | c.1736G= (p.Cys579=) c.1878G= (p.Leu626=) c.1965G= (p.Leu655=) c.1449G= (p.Leu483=) c.2079G= (p.Leu693=) c.2007G= (p.Leu669=) c.2172G= (p.Leu724=) c.*1090G= (n.*1090G=) c.*2004G= (n.*2004G=) c.*1283G= (n.*1283G=) c.1116G= (p.Leu372=) c.1960G= n.1206G= n.1554G= c.*1964G= (n.*1964G=) c.1440G= (p.Leu480=) c.*2312G= (n.*2312G=) c.*2050G= (n.*2050G=) c.*401G= (n.*401G=) n.883G= c.1940G= c.1149G= (p.Leu383=) c.1098G= (p.Leu366=) c.2073G= (p.Leu691=) | |
| 3 | g.37050554G>T | CA352069341 | MLH1 | c.1736G>T (p.Cys579Phe) c.1878G>T (p.Leu626Phe) c.1965G>T (p.Leu655Phe) c.1449G>T (p.Leu483Phe) c.2079G>T (p.Leu693Phe) c.2007G>T (p.Leu669Phe) c.2172G>T (p.Leu724Phe) c.*1090G>T (n.*1090G>T) c.*2004G>T (n.*2004G>T) c.*1283G>T (n.*1283G>T) c.1116G>T (p.Leu372Phe) c.1960G>T n.1206G>T n.1554G>T c.*1964G>T (n.*1964G>T) c.1440G>T (p.Leu480Phe) c.*2312G>T (n.*2312G>T) c.*2050G>T (n.*2050G>T) c.*401G>T (n.*401G>T) n.883G>T c.1940G>T c.1149G>T (p.Leu383Phe) c.1098G>T (p.Leu366Phe) c.2073G>T (p.Leu691Phe) | |
| 3 | g.37050554dup | CA2586971989 | MLH1 | c.1736dup (p.Cys579TrpfsTer?) c.1878dup (p.Arg627AlafsTer8) c.1965dup (p.Arg656AlafsTer8) c.1449dup (p.Arg484AlafsTer8) c.2079dup (p.Arg694AlafsTer8) c.2007dup (p.Arg670AlafsTer8) c.2172dup (p.Arg725AlafsTer8) c.*1090dup (n.*1090dup) c.*2004dup (n.*2004dup) c.*1283dup (n.*1283dup) c.1116dup (p.Arg373AlafsTer8) c.1960dup n.1206dup n.1554dup c.*1964dup (n.*1964dup) c.1440dup (p.Arg481AlafsTer8) c.*2312dup (n.*2312dup) c.*2050dup (n.*2050dup) c.*401dup (n.*401dup) n.883dup c.1940dup c.1149dup (p.Arg384AlafsTer8) c.1098dup (p.Arg367AlafsTer8) c.2073dup (p.Arg692AlafsTer8) | |
| 3 | g.37050554_37050555delinsAG | CA008993 | MLH1 | c.1736_1737delinsAG (p.Cys579Ter) c.1878_1879delinsAG (p.Arg627Gly) c.1965_1966delinsAG (p.Arg656Gly) c.1449_1450delinsAG (p.Arg484Gly) c.2079_2080delinsAG (p.Arg694Gly) c.2007_2008delinsAG (p.Arg670Gly) c.2172_2173delinsAG (p.Arg725Gly) c.*1090_*1091delinsAG (n.*1090_*1091delinsAG) c.*2004_*2005delinsAG (n.*2004_*2005delinsAG) c.*1283_*1284delinsAG (n.*1283_*1284delinsAG) c.1116_1117delinsAG (p.Arg373Gly) c.1960_1961delinsAG n.1206_1207delinsAG n.1554_1555delinsAG c.*1964_*1965delinsAG (n.*1964_*1965delinsAG) c.1440_1441delinsAG (p.Arg481Gly) c.*2312_*2313delinsAG (n.*2312_*2313delinsAG) c.*2050_*2051delinsAG (n.*2050_*2051delinsAG) c.*401_*402delinsAG (n.*401_*402delinsAG) n.883_884delinsAG c.1940_1941delinsAG c.1149_1150delinsAG (p.Arg384Gly) c.1098_1099delinsAG (p.Arg367Gly) c.2073_2074delinsAG (p.Arg692Gly) | ClinVar dbSNP |
| 3 | g.37050554_37050555delinsGC | CA1357891776 | MLH1 | c.1736_1737delinsGC (p.Cys579=) c.1878_1879delinsGC (p.Leu626=) c.1965_1966delinsGC (p.Leu655=) c.1449_1450delinsGC (p.Leu483=) c.2079_2080delinsGC (p.Leu693=) c.2007_2008delinsGC (p.Leu669=) c.2172_2173delinsGC (p.Leu724=) c.*1090_*1091delinsGC (n.*1090_*1091delinsGC) c.*2004_*2005delinsGC (n.*2004_*2005delinsGC) c.*1283_*1284delinsGC (n.*1283_*1284delinsGC) c.1116_1117delinsGC (p.Leu372=) c.1960_1961delinsGC n.1206_1207delinsGC n.1554_1555delinsGC c.*1964_*1965delinsGC (n.*1964_*1965delinsGC) c.1440_1441delinsGC (p.Leu480=) c.*2312_*2313delinsGC (n.*2312_*2313delinsGC) c.*2050_*2051delinsGC (n.*2050_*2051delinsGC) c.*401_*402delinsGC (n.*401_*402delinsGC) n.883_884delinsGC c.1940_1941delinsGC c.1149_1150delinsGC (p.Leu383=) c.1098_1099delinsGC (p.Leu366=) c.2073_2074delinsGC (p.Leu691=) | |
| 3 | g.37050555del | CA2580069564 | MLH1 | c.1737del (p.Cys579TrpfsTer8) c.1879del (p.Arg627AlafsTer?) c.1966del (p.Arg656AlafsTer?) c.1450del (p.Arg484AlafsTer?) c.2080del (p.Arg694AlafsTer?) c.2008del (p.Arg670AlafsTer?) c.2173del (p.Arg725AlafsTer?) c.*1091del (n.*1091del) c.*2005del (n.*2005del) c.*1284del (n.*1284del) c.1117del (p.Arg373AlafsTer?) c.1961del n.1207del n.1555del c.*1965del (n.*1965del) c.1441del (p.Arg481AlafsTer?) c.*2313del (n.*2313del) c.*2051del (n.*2051del) c.*402del (n.*402del) n.884del c.1941del c.1150del (p.Arg384AlafsTer?) c.1099del (p.Arg367AlafsTer?) c.2074del (p.Arg692AlafsTer?) | ClinVar |
| 3 | g.37050555C>A | CA352069347 | MLH1 | c.1737C>A (p.Cys579Ter) c.1879C>A (p.Arg627Ser) c.1966C>A (p.Arg656Ser) c.1450C>A (p.Arg484Ser) c.2080C>A (p.Arg694Ser) c.2008C>A (p.Arg670Ser) c.2173C>A (p.Arg725Ser) c.*1091C>A (n.*1091C>A) c.*2005C>A (n.*2005C>A) c.*1284C>A (n.*1284C>A) c.1117C>A (p.Arg373Ser) c.1961C>A n.1207C>A n.1555C>A c.*1965C>A (n.*1965C>A) c.1441C>A (p.Arg481Ser) c.*2313C>A (n.*2313C>A) c.*2051C>A (n.*2051C>A) c.*402C>A (n.*402C>A) n.884C>A c.1941C>A c.1150C>A (p.Arg384Ser) c.1099C>A (p.Arg367Ser) c.2074C>A (p.Arg692Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.37050555C= | CA1357891777 | MLH1 | c.1737C= (p.Cys579=) c.1879C= (p.Arg627=) c.1966C= (p.Arg656=) c.1450C= (p.Arg484=) c.2080C= (p.Arg694=) c.2008C= (p.Arg670=) c.2173C= (p.Arg725=) c.*1091C= (n.*1091C=) c.*2005C= (n.*2005C=) c.*1284C= (n.*1284C=) c.1117C= (p.Arg373=) c.1961C= n.1207C= n.1555C= c.*1965C= (n.*1965C=) c.1441C= (p.Arg481=) c.*2313C= (n.*2313C=) c.*2051C= (n.*2051C=) c.*402C= (n.*402C=) n.884C= c.1941C= c.1150C= (p.Arg384=) c.1099C= (p.Arg367=) c.2074C= (p.Arg692=) | |
| 3 | g.37050555C>G | CA10578279 | MLH1 | c.1737C>G (p.Cys579Trp) c.1879C>G (p.Arg627Gly) c.1966C>G (p.Arg656Gly) c.1450C>G (p.Arg484Gly) c.2080C>G (p.Arg694Gly) c.2008C>G (p.Arg670Gly) c.2173C>G (p.Arg725Gly) c.*1091C>G (n.*1091C>G) c.*2005C>G (n.*2005C>G) c.*1284C>G (n.*1284C>G) c.1117C>G (p.Arg373Gly) c.1961C>G n.1207C>G n.1555C>G c.*1965C>G (n.*1965C>G) c.1441C>G (p.Arg481Gly) c.*2313C>G (n.*2313C>G) c.*2051C>G (n.*2051C>G) c.*402C>G (n.*402C>G) n.884C>G c.1941C>G c.1150C>G (p.Arg384Gly) c.1099C>G (p.Arg367Gly) c.2074C>G (p.Arg692Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.37050555C>T | CA009001 | MLH1 | c.1737C>T (p.Cys579=) c.1879C>T (p.Arg627Cys) c.1966C>T (p.Arg656Cys) c.1450C>T (p.Arg484Cys) c.2080C>T (p.Arg694Cys) c.2008C>T (p.Arg670Cys) c.2173C>T (p.Arg725Cys) c.*1091C>T (n.*1091C>T) c.*2005C>T (n.*2005C>T) c.*1284C>T (n.*1284C>T) c.1117C>T (p.Arg373Cys) c.1961C>T n.1207C>T n.1555C>T c.*1965C>T (n.*1965C>T) c.1441C>T (p.Arg481Cys) c.*2313C>T (n.*2313C>T) c.*2051C>T (n.*2051C>T) c.*402C>T (n.*402C>T) n.884C>T c.1941C>T c.1150C>T (p.Arg384Cys) c.1099C>T (p.Arg367Cys) c.2074C>T (p.Arg692Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.[37050555C>T;37050556G>T] | CA2742038356 | MLH1 | c.[1737C>T;1738G>T] (p.[Cys579=;Ala580Ser]) c.[1879C>T;1880G>T] (p.[Arg627Cys;Arg627Leu]) c.[1966C>T;1967G>T] (p.[Arg656Cys;Arg656Leu]) c.[1450C>T;1451G>T] (p.[Arg484Cys;Arg484Leu]) c.[2080C>T;2081G>T] (p.[Arg694Cys;Arg694Leu]) c.[2008C>T;2009G>T] (p.[Arg670Cys;Arg670Leu]) c.[2173C>T;2174G>T] (p.[Arg725Cys;Arg725Leu]) c.[*1091C>T;*1092G>T] (n.[*1091C>T;*1092G>T]) c.[*2005C>T;*2006G>T] (n.[*2005C>T;*2006G>T]) c.[*1284C>T;*1285G>T] (n.[*1284C>T;*1285G>T]) c.[1117C>T;1118G>T] (p.[Arg373Cys;Arg373Leu]) c.[1961C>T;1962G>T] n.[1207C>T;1208G>T] n.[1555C>T;1556G>T] c.[*1965C>T;*1966G>T] (n.[*1965C>T;*1966G>T]) c.[1441C>T;1442G>T] (p.[Arg481Cys;Arg481Leu]) c.[*2313C>T;*2314G>T] (n.[*2313C>T;*2314G>T]) c.[*2051C>T;*2052G>T] (n.[*2051C>T;*2052G>T]) c.[*402C>T;*403G>T] (n.[*402C>T;*403G>T]) n.[884C>T;885G>T] c.[1941C>T;1942G>T] c.[1150C>T;1151G>T] (p.[Arg384Cys;Arg384Leu]) c.[1099C>T;1100G>T] (p.[Arg367Cys;Arg367Leu]) c.[2074C>T;2075G>T] (p.[Arg692Cys;Arg692Leu]) | ClinVar |
| 3 | g.37050556_37050559dup | CA2695197866 | MLH1 | c.1738_1741dup (p.His581ArgfsTer?) c.1880_1883dup (p.His629LeufsTer7) c.1967_1970dup (p.His658LeufsTer7) c.1451_1454dup (p.His486LeufsTer7) c.2081_2084dup (p.His696LeufsTer7) c.2009_2012dup (p.His672LeufsTer7) c.2174_2177dup (p.His727LeufsTer7) c.*1092_*1095dup (n.*1092_*1095dup) c.*2006_*2009dup (n.*2006_*2009dup) c.*1285_*1288dup (n.*1285_*1288dup) c.1118_1121dup (p.His375LeufsTer7) c.1962_1965dup n.1208_1211dup n.1556_1559dup c.*1966_*1969dup (n.*1966_*1969dup) c.1442_1445dup (p.His483LeufsTer7) c.*2314_*2317dup (n.*2314_*2317dup) c.*2052_*2055dup (n.*2052_*2055dup) c.*403_*406dup (n.*403_*406dup) n.885_888dup c.1942_1945dup c.1151_1154dup (p.His386LeufsTer7) c.1100_1103dup (p.His369LeufsTer7) c.2075_2078dup (p.His694LeufsTer7) | ClinVar |
| 3 | g.37050556_37050563del | CA2580069565 | MLH1 | c.1738_1745del (p.Ala580IlefsTer30) c.1880_1887del (p.Arg627HisfsTer5) c.1967_1974del (p.Arg656HisfsTer5) c.1451_1458del (p.Arg484HisfsTer5) c.2081_2088del (p.Arg694HisfsTer5) c.2009_2016del (p.Arg670HisfsTer5) c.2174_2181del (p.Arg725HisfsTer5) c.*1092_*1099del (n.*1092_*1099del) c.*2006_*2013del (n.*2006_*2013del) c.*1285_*1292del (n.*1285_*1292del) c.1118_1125del (p.Arg373HisfsTer5) c.1962_1969del n.1208_1215del n.1556_1563del c.*1966_*1973del (n.*1966_*1973del) c.1442_1449del (p.Arg481HisfsTer5) c.*2314_*2321del (n.*2314_*2321del) c.*2052_*2059del (n.*2052_*2059del) c.*403_*410del (n.*403_*410del) n.885_892del c.1942_1949del c.1151_1158del (p.Arg384HisfsTer5) c.1100_1107del (p.Arg367HisfsTer5) c.2075_2082del (p.Arg692HisfsTer5) | ClinVar |
| 3 | g.37050556del | CA2586971990 | MLH1 | c.1738del (p.Ala580LeufsTer7) c.1880del (p.Arg627ProfsTer?) c.1967del (p.Arg656ProfsTer?) c.1451del (p.Arg484ProfsTer?) c.2081del (p.Arg694ProfsTer?) c.2009del (p.Arg670ProfsTer?) c.2174del (p.Arg725ProfsTer?) c.*1092del (n.*1092del) c.*2006del (n.*2006del) c.*1285del (n.*1285del) c.1118del (p.Arg373ProfsTer?) c.1962del n.1208del n.1556del c.*1966del (n.*1966del) c.1442del (p.Arg481ProfsTer?) c.*2314del (n.*2314del) c.*2052del (n.*2052del) c.*403del (n.*403del) n.885del c.1942del c.1151del (p.Arg384ProfsTer?) c.1100del (p.Arg367ProfsTer?) c.2075del (p.Arg692ProfsTer?) | |
| 3 | g.37050556G>A | CA009007 | MLH1 | c.1738G>A (p.Ala580Thr) c.1880G>A (p.Arg627His) c.1967G>A (p.Arg656His) c.1451G>A (p.Arg484His) c.2081G>A (p.Arg694His) c.2009G>A (p.Arg670His) c.2174G>A (p.Arg725His) c.*1092G>A (n.*1092G>A) c.*2006G>A (n.*2006G>A) c.*1285G>A (n.*1285G>A) c.1118G>A (p.Arg373His) c.1962G>A n.1208G>A n.1556G>A c.*1966G>A (n.*1966G>A) c.1442G>A (p.Arg481His) c.*2314G>A (n.*2314G>A) c.*2052G>A (n.*2052G>A) c.*403G>A (n.*403G>A) n.885G>A c.1942G>A c.1151G>A (p.Arg384His) c.1100G>A (p.Arg367His) c.2075G>A (p.Arg692His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.37050556G>C | CA352069361 | MLH1 | c.1738G>C (p.Ala580Pro) c.1880G>C (p.Arg627Pro) c.1967G>C (p.Arg656Pro) c.1451G>C (p.Arg484Pro) c.2081G>C (p.Arg694Pro) c.2009G>C (p.Arg670Pro) c.2174G>C (p.Arg725Pro) c.*1092G>C (n.*1092G>C) c.*2006G>C (n.*2006G>C) c.*1285G>C (n.*1285G>C) c.1118G>C (p.Arg373Pro) c.1962G>C n.1208G>C n.1556G>C c.*1966G>C (n.*1966G>C) c.1442G>C (p.Arg481Pro) c.*2314G>C (n.*2314G>C) c.*2052G>C (n.*2052G>C) c.*403G>C (n.*403G>C) n.885G>C c.1942G>C c.1151G>C (p.Arg384Pro) c.1100G>C (p.Arg367Pro) c.2075G>C (p.Arg692Pro) | dbSNP |
| 3 | g.37050556G= | CA1357891778 | MLH1 | c.1738G= (p.Ala580=) c.1880G= (p.Arg627=) c.1967G= (p.Arg656=) c.1451G= (p.Arg484=) c.2081G= (p.Arg694=) c.2009G= (p.Arg670=) c.2174G= (p.Arg725=) c.*1092G= (n.*1092G=) c.*2006G= (n.*2006G=) c.*1285G= (n.*1285G=) c.1118G= (p.Arg373=) c.1962G= n.1208G= n.1556G= c.*1966G= (n.*1966G=) c.1442G= (p.Arg481=) c.*2314G= (n.*2314G=) c.*2052G= (n.*2052G=) c.*403G= (n.*403G=) n.885G= c.1942G= c.1151G= (p.Arg384=) c.1100G= (p.Arg367=) c.2075G= (p.Arg692=) | |
| 3 | g.37050556G>T | CA352069362 | MLH1 | c.1738G>T (p.Ala580Ser) c.1880G>T (p.Arg627Leu) c.1967G>T (p.Arg656Leu) c.1451G>T (p.Arg484Leu) c.2081G>T (p.Arg694Leu) c.2009G>T (p.Arg670Leu) c.2174G>T (p.Arg725Leu) c.*1092G>T (n.*1092G>T) c.*2006G>T (n.*2006G>T) c.*1285G>T (n.*1285G>T) c.1118G>T (p.Arg373Leu) c.1962G>T n.1208G>T n.1556G>T c.*1966G>T (n.*1966G>T) c.1442G>T (p.Arg481Leu) c.*2314G>T (n.*2314G>T) c.*2052G>T (n.*2052G>T) c.*403G>T (n.*403G>T) n.885G>T c.1942G>T c.1151G>T (p.Arg384Leu) c.1100G>T (p.Arg367Leu) c.2075G>T (p.Arg692Leu) | dbSNP |
| 3 | g.37050557C>A | CA433086908 | MLH1 | c.1739C>A (p.Ala580Asp) c.1881C>A (p.Arg627=) c.1968C>A (p.Arg656=) c.1452C>A (p.Arg484=) c.2082C>A (p.Arg694=) c.2010C>A (p.Arg670=) c.2175C>A (p.Arg725=) c.*1093C>A (n.*1093C>A) c.*2007C>A (n.*2007C>A) c.*1286C>A (n.*1286C>A) c.1119C>A (p.Arg373=) c.1963C>A n.1209C>A n.1557C>A c.*1967C>A (n.*1967C>A) c.1443C>A (p.Arg481=) c.*2315C>A (n.*2315C>A) c.*2053C>A (n.*2053C>A) c.*404C>A (n.*404C>A) n.886C>A c.1943C>A c.1152C>A (p.Arg384=) c.1101C>A (p.Arg367=) c.2076C>A (p.Arg692=) | |
| 3 | g.37050557C>G | CA433086909 | MLH1 | c.1739C>G (p.Ala580Gly) c.1881C>G (p.Arg627=) c.1968C>G (p.Arg656=) c.1452C>G (p.Arg484=) c.2082C>G (p.Arg694=) c.2010C>G (p.Arg670=) c.2175C>G (p.Arg725=) c.*1093C>G (n.*1093C>G) c.*2007C>G (n.*2007C>G) c.*1286C>G (n.*1286C>G) c.1119C>G (p.Arg373=) c.1963C>G n.1209C>G n.1557C>G c.*1967C>G (n.*1967C>G) c.1443C>G (p.Arg481=) c.*2315C>G (n.*2315C>G) c.*2053C>G (n.*2053C>G) c.*404C>G (n.*404C>G) n.886C>G c.1943C>G c.1152C>G (p.Arg384=) c.1101C>G (p.Arg367=) c.2076C>G (p.Arg692=) | dbSNP |
| 3 | g.37050557C>T | CA433086907 | MLH1 | c.1739C>T (p.Ala580Val) c.1881C>T (p.Arg627=) c.1968C>T (p.Arg656=) c.1452C>T (p.Arg484=) c.2082C>T (p.Arg694=) c.2010C>T (p.Arg670=) c.2175C>T (p.Arg725=) c.*1093C>T (n.*1093C>T) c.*2007C>T (n.*2007C>T) c.*1286C>T (n.*1286C>T) c.1119C>T (p.Arg373=) c.1963C>T n.1209C>T n.1557C>T c.*1967C>T (n.*1967C>T) c.1443C>T (p.Arg481=) c.*2315C>T (n.*2315C>T) c.*2053C>T (n.*2053C>T) c.*404C>T (n.*404C>T) n.886C>T c.1943C>T c.1152C>T (p.Arg384=) c.1101C>T (p.Arg367=) c.2076C>T (p.Arg692=) | ClinVar dbSNP |
| 3 | g.37050558T>A | CA352069363 | MLH1 | c.1740T>A (p.Ala580=) c.1882T>A (p.Ser628Thr) c.1969T>A (p.Ser657Thr) c.1453T>A (p.Ser485Thr) c.2083T>A (p.Ser695Thr) c.2011T>A (p.Ser671Thr) c.2176T>A (p.Ser726Thr) c.*1094T>A (n.*1094T>A) c.*2008T>A (n.*2008T>A) c.*1287T>A (n.*1287T>A) c.1120T>A (p.Ser374Thr) c.1964T>A n.1210T>A n.1558T>A c.*1968T>A (n.*1968T>A) c.1444T>A (p.Ser482Thr) c.*2316T>A (n.*2316T>A) c.*2054T>A (n.*2054T>A) c.*405T>A (n.*405T>A) n.887T>A c.1944T>A c.1153T>A (p.Ser385Thr) c.1102T>A (p.Ser368Thr) c.2077T>A (p.Ser693Thr) | ClinVar |
| 3 | g.37050558T>C | CA352069366 | MLH1 | c.1740T>C (p.Ala580=) c.1882T>C (p.Ser628Pro) c.1969T>C (p.Ser657Pro) c.1453T>C (p.Ser485Pro) c.2083T>C (p.Ser695Pro) c.2011T>C (p.Ser671Pro) c.2176T>C (p.Ser726Pro) c.*1094T>C (n.*1094T>C) c.*2008T>C (n.*2008T>C) c.*1287T>C (n.*1287T>C) c.1120T>C (p.Ser374Pro) c.1964T>C n.1210T>C n.1558T>C c.*1968T>C (n.*1968T>C) c.1444T>C (p.Ser482Pro) c.*2316T>C (n.*2316T>C) c.*2054T>C (n.*2054T>C) c.*405T>C (n.*405T>C) n.887T>C c.1944T>C c.1153T>C (p.Ser385Pro) c.1102T>C (p.Ser368Pro) c.2077T>C (p.Ser693Pro) | |
| 3 | g.37050558T>G | CA352069364 | MLH1 | c.1740T>G (p.Ala580=) c.1882T>G (p.Ser628Ala) c.1969T>G (p.Ser657Ala) c.1453T>G (p.Ser485Ala) c.2083T>G (p.Ser695Ala) c.2011T>G (p.Ser671Ala) c.2176T>G (p.Ser726Ala) c.*1094T>G (n.*1094T>G) c.*2008T>G (n.*2008T>G) c.*1287T>G (n.*1287T>G) c.1120T>G (p.Ser374Ala) c.1964T>G n.1210T>G n.1558T>G c.*1968T>G (n.*1968T>G) c.1444T>G (p.Ser482Ala) c.*2316T>G (n.*2316T>G) c.*2054T>G (n.*2054T>G) c.*405T>G (n.*405T>G) n.887T>G c.1944T>G c.1153T>G (p.Ser385Ala) c.1102T>G (p.Ser368Ala) c.2077T>G (p.Ser693Ala) | |
| 3 | g.37050558_37050562delinsTCACA | CA1357891779 | MLH1 | c.1740_1744delinsTCACA (p.Ala580=) c.1882_1886delinsTCACA (p.Ser628=) c.1969_1973delinsTCACA (p.Ser657=) c.1453_1457delinsTCACA (p.Ser485=) c.2083_2087delinsTCACA (p.Ser695=) c.2011_2015delinsTCACA (p.Ser671=) c.2176_2180delinsTCACA (p.Ser726=) c.*1094_*1098delinsTCACA (n.*1094_*1098delinsTCACA) c.*2008_*2012delinsTCACA (n.*2008_*2012delinsTCACA) c.*1287_*1291delinsTCACA (n.*1287_*1291delinsTCACA) c.1120_1124delinsTCACA (p.Ser374=) c.1964_1968delinsTCACA n.1210_1214delinsTCACA n.1558_1562delinsTCACA c.*1968_*1972delinsTCACA (n.*1968_*1972delinsTCACA) c.1444_1448delinsTCACA (p.Ser482=) c.*2316_*2320delinsTCACA (n.*2316_*2320delinsTCACA) c.*2054_*2058delinsTCACA (n.*2054_*2058delinsTCACA) c.*405_*409delinsTCACA (n.*405_*409delinsTCACA) n.887_891delinsTCACA c.1944_1948delinsTCACA c.1153_1157delinsTCACA (p.Ser385=) c.1102_1106delinsTCACA (p.Ser368=) c.2077_2081delinsTCACA (p.Ser693=) | |
| 3 | g.37050559C>A | CA352069374 | MLH1 | c.1741C>A (p.His581Asn) c.1883C>A (p.Ser628Ter) c.1970C>A (p.Ser657Ter) c.1454C>A (p.Ser485Ter) c.2084C>A (p.Ser695Ter) c.2012C>A (p.Ser671Ter) c.2177C>A (p.Ser726Ter) c.*1095C>A (n.*1095C>A) c.*2009C>A (n.*2009C>A) c.*1288C>A (n.*1288C>A) c.1121C>A (p.Ser374Ter) c.1965C>A n.1211C>A n.1559C>A c.*1969C>A (n.*1969C>A) c.1445C>A (p.Ser482Ter) c.*2317C>A (n.*2317C>A) c.*2055C>A (n.*2055C>A) c.*406C>A (n.*406C>A) n.888C>A c.1945C>A c.1154C>A (p.Ser385Ter) c.1103C>A (p.Ser368Ter) c.2078C>A (p.Ser693Ter) | ClinVar dbSNP |
| 3 | g.37050559C= | CA1357891780 | MLH1 | c.1741C= (p.His581=) c.1883C= (p.Ser628=) c.1970C= (p.Ser657=) c.1454C= (p.Ser485=) c.2084C= (p.Ser695=) c.2012C= (p.Ser671=) c.2177C= (p.Ser726=) c.*1095C= (n.*1095C=) c.*2009C= (n.*2009C=) c.*1288C= (n.*1288C=) c.1121C= (p.Ser374=) c.1965C= n.1211C= n.1559C= c.*1969C= (n.*1969C=) c.1445C= (p.Ser482=) c.*2317C= (n.*2317C=) c.*2055C= (n.*2055C=) c.*406C= (n.*406C=) n.888C= c.1945C= c.1154C= (p.Ser385=) c.1103C= (p.Ser368=) c.2078C= (p.Ser693=) | |
| 3 | g.37050559C>G | CA348540 | MLH1 | c.1741C>G (p.His581Asp) c.1883C>G (p.Ser628Ter) c.1970C>G (p.Ser657Ter) c.1454C>G (p.Ser485Ter) c.2084C>G (p.Ser695Ter) c.2012C>G (p.Ser671Ter) c.2177C>G (p.Ser726Ter) c.*1095C>G (n.*1095C>G) c.*2009C>G (n.*2009C>G) c.*1288C>G (n.*1288C>G) c.1121C>G (p.Ser374Ter) c.1965C>G n.1211C>G n.1559C>G c.*1969C>G (n.*1969C>G) c.1445C>G (p.Ser482Ter) c.*2317C>G (n.*2317C>G) c.*2055C>G (n.*2055C>G) c.*406C>G (n.*406C>G) n.888C>G c.1945C>G c.1154C>G (p.Ser385Ter) c.1103C>G (p.Ser368Ter) c.2078C>G (p.Ser693Ter) | ClinVar dbSNP |
| 3 | g.37050559C>T | CA352069382 | MLH1 | c.1741C>T (p.His581Tyr) c.1883C>T (p.Ser628Leu) c.1970C>T (p.Ser657Leu) c.1454C>T (p.Ser485Leu) c.2084C>T (p.Ser695Leu) c.2012C>T (p.Ser671Leu) c.2177C>T (p.Ser726Leu) c.*1095C>T (n.*1095C>T) c.*2009C>T (n.*2009C>T) c.*1288C>T (n.*1288C>T) c.1121C>T (p.Ser374Leu) c.1965C>T n.1211C>T n.1559C>T c.*1969C>T (n.*1969C>T) c.1445C>T (p.Ser482Leu) c.*2317C>T (n.*2317C>T) c.*2055C>T (n.*2055C>T) c.*406C>T (n.*406C>T) n.888C>T c.1945C>T c.1154C>T (p.Ser385Leu) c.1103C>T (p.Ser368Leu) c.2078C>T (p.Ser693Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.37050563_37050564dup | CA2586971991 | MLH1 | c.1745_1746dup (p.Phe583HisfsTer5) c.1887_1888dup (p.Ile630ThrfsTer?) c.1974_1975dup (p.Ile659ThrfsTer?) c.1458_1459dup (p.Ile487ThrfsTer?) c.2088_2089dup (p.Ile697ThrfsTer?) c.2016_2017dup (p.Ile673ThrfsTer?) c.2181_2182dup (p.Ile728ThrfsTer?) c.*1099_*1100dup (n.*1099_*1100dup) c.*2013_*2014dup (n.*2013_*2014dup) c.*1292_*1293dup (n.*1292_*1293dup) c.1125_1126dup (p.Ile376ThrfsTer?) c.1969_1970dup n.1215_1216dup n.1563_1564dup c.*1973_*1974dup (n.*1973_*1974dup) c.1449_1450dup (p.Ile484ThrfsTer?) c.*2321_*2322dup (n.*2321_*2322dup) c.*2059_*2060dup (n.*2059_*2060dup) c.*410_*411dup (n.*410_*411dup) n.892_893dup c.1949_1950dup c.1158_1159dup (p.Ile387ThrfsTer?) c.1107_1108dup (p.Ile370ThrfsTer?) c.2082_2083dup (p.Ile695ThrfsTer?) |