| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.37023308_37026834del | CA330647 | MLH1 | c.1039-2329_1409+827del c.745-2329_1115+827del c.885-2329_*310+827del c.316-2329_686+827del c.68-2329_*327+827del c.*871-2329_*1241+827del c.*150-2329_*520+827del c.76-2329_446+827del c.992-2329_1362+827del n.421-2329_791+827del c.*831-2329_*1201+827del c.678-5476_678-1950del (n.678-5476_678-1950del) c.*1179-2329_*1549+827del c.*917-2329_*1287+827del n.930-2329_1300+827del n.887-2329_1257+827del c.114-2329_484+827del c.1014-2329_1384+827del c.226-2329_596+827del c.832-2329_1202+827del c.16-2329_386+827del c.-36-2329_335+827del c.940-2329_1310+827del | ClinVar |
| 3 | g.37024963_37026034del | CA330649 | MLH1 | c.1039-674_1409+27del c.745-674_1115+27del c.885-674_*310+27del c.316-674_686+27del c.68-674_*327+27del c.*871-674_*1241+27del n.847-674_1244del c.*150-674_*520+27del c.76-674_446+27del c.992-674_1362+27del n.1163-674_1560del n.421-674_791+27del c.*831-674_*1201+27del c.678-3821_678-2750del (n.678-3821_678-2750del) c.*1179-674_*1549+27del c.*917-674_*1287+27del n.930-674_1300+27del n.887-674_1257+27del c.114-674_484+27del c.1014-674_1384+27del c.226-674_596+27del c.832-674_1202+27del c.16-674_386+27del c.-36-674_335+27del c.940-674_1310+27del | ClinVar |
| 3 | g.37025630_37029829dup | CA658760872 | MLH1 | c.1039-7_1558+897dup c.745-7_1264+897dup c.316-7_835+897dup c.68-7_*476+897dup c.*871-7_*1390+897dup c.*150-7_*669+897dup c.76-7_595+897dup c.992-7_1511+897dup n.421-7_940+897dup c.*831-7_*1350+897dup c.678-3154_826+897dup c.*1179-7_*1698+897dup c.*917-7_*1436+897dup n.930-7_1449+897dup n.887-7_2303dup c.114-7_633+897dup c.1014-7_1533+897dup c.832-7_1351+897dup c.16-7_535+897dup c.-36-7_484+897dup c.940-7_1459+897dup | |
| 3 | g.37025635_37026157del | CA2499216693 | MLH1 | c.1039-2_1409+150del c.745-2_1115+150del c.885-2_*310+150del c.316-2_686+150del c.68-2_*327+150del c.*871-2_*1241+150del c.*150-2_*520+150del c.76-2_446+150del c.992-2_1362+150del n.421-2_791+150del c.*831-2_*1201+150del c.678-3149_678-2627del (n.678-3149_678-2627del) c.*1179-2_*1549+150del c.*917-2_*1287+150del n.930-2_1300+150del n.887-2_1257+150del c.114-2_484+150del c.1014-2_1384+150del c.226-2_596+150del c.832-2_1202+150del c.16-2_386+150del c.-36-2_335+150del c.940-2_1310+150del | ClinVar dbSNP |
| 3 | g.37025635_37026008del | CA2499216694 | MLH1 | c.1039-2_1409+1del c.745-2_1115+1del c.885-2_*310+1del c.316-2_686+1del c.68-2_*327+1del c.*871-2_*1241+1del n.847-2_1218del c.*150-2_*520+1del c.76-2_446+1del c.992-2_1362+1del n.1163-2_1534del n.421-2_791+1del c.*831-2_*1201+1del c.678-3149_678-2776del (n.678-3149_678-2776del) c.*1179-2_*1549+1del c.*917-2_*1287+1del n.930-2_1300+1del n.887-2_1257+1del c.114-2_484+1del c.1014-2_1384+1del c.226-2_596+1del c.832-2_1202+1del c.16-2_386+1del c.-36-2_335+1del c.940-2_1310+1del | ClinVar dbSNP |
| 3 | g.37025663_37025684del | CA2580069462 | MLH1 | c.1065_1086del (p.Ser356GlnfsTer4) c.771_792del (p.Ser258GlnfsTer4) c.911_932del (p.Pro304HisfsTer13) c.342_363del (p.Ser115GlnfsTer4) c.94_*4del (n.[c.94_*4del;Leu32ThrfsTer?]) c.*897_*918del (n.*897_*918del) n.873_894del c.*176_*197del (n.*176_*197del) c.102_123del (p.Ser35GlnfsTer4) c.1018_1039del n.1189_1210del n.447_468del c.*857_*878del (n.*857_*878del) c.678-3121_678-3100del (n.678-3121_678-3100del) c.*1205_*1226del (n.*1205_*1226del) c.*943_*964del (n.*943_*964del) n.956_977del n.913_934del c.140_161del c.352_373del c.1040_1061del c.252_273del c.858_879del (p.Ser287GlnfsTer4) c.42_63del (p.Ser15GlnfsTer4) c.-10_12del c.966_987del (p.Ser323GlnfsTer4) | ClinVar |
| 3 | g.37025665_37025673delinsCTGGGGAGA | CA1357880257 | MLH1 | c.1067_1075delinsCTGGGGAGA (p.Ser356=) c.773_781delinsCTGGGGAGA (p.Ser258=) c.913_921delinsCTGGGGAGA (p.Leu305=) c.344_352delinsCTGGGGAGA (p.Ser115=) c.96_104delinsCTGGGGAGA (p.Leu32=) c.*899_*907delinsCTGGGGAGA (n.*899_*907delinsCTGGGGAGA) n.875_883delinsCTGGGGAGA c.*178_*186delinsCTGGGGAGA (n.*178_*186delinsCTGGGGAGA) c.104_112delinsCTGGGGAGA (p.Ser35=) c.1020_1028delinsCTGGGGAGA n.1191_1199delinsCTGGGGAGA n.449_457delinsCTGGGGAGA c.*859_*867delinsCTGGGGAGA (n.*859_*867delinsCTGGGGAGA) c.678-3119_678-3111delinsCTGGGGAGA (n.678-3119_678-3111delinsCTGGGGAGA) c.*1207_*1215delinsCTGGGGAGA (n.*1207_*1215delinsCTGGGGAGA) c.*945_*953delinsCTGGGGAGA (n.*945_*953delinsCTGGGGAGA) n.958_966delinsCTGGGGAGA n.915_923delinsCTGGGGAGA c.142_150delinsCTGGGGAGA c.354_362delinsCTGGGGAGA c.1042_1050delinsCTGGGGAGA c.254_262delinsCTGGGGAGA c.860_868delinsCTGGGGAGA (p.Ser287=) c.44_52delinsCTGGGGAGA (p.Ser15=) c.-8_1delinsCTGGGGAGA c.968_976delinsCTGGGGAGA (p.Ser323=) | |
| 3 | g.37025666_37025670del | CA2580069466 | MLH1 | c.1068_1072del (p.Gly357AspfsTer3) c.774_778del (p.Gly259AspfsTer3) c.914_918del (p.Leu305GlnfsTer?) c.345_349del (p.Gly116AspfsTer3) c.97_101del (p.Trp33ArgfsTer9) c.*900_*904del (n.*900_*904del) n.876_880del c.*179_*183del (n.*179_*183del) c.105_109del (p.Gly36AspfsTer3) c.1021_1025del n.1192_1196del n.450_454del c.*860_*864del (n.*860_*864del) c.678-3118_678-3114del (n.678-3118_678-3114del) c.*1208_*1212del (n.*1208_*1212del) c.*946_*950del (n.*946_*950del) n.959_963del n.916_920del c.143_147del c.355_359del c.1043_1047del c.255_259del c.861_865del (p.Gly288AspfsTer3) c.45_49del (p.Gly16AspfsTer3) c.-7_-3del (n.-7_-3del) c.969_973del (p.Gly324AspfsTer3) | ClinVar |
| 3 | g.37025669_37025676del | CA004256 | MLH1 | c.1071_1078del (p.Glu358Ter) c.777_784del (p.Glu260Ter) c.917_924del (p.Gly306ValfsTer?) c.348_355del (p.Glu117Ter) c.100_107del (p.Gly34LeufsTer7) c.*903_*910del (n.*903_*910del) n.879_886del c.*182_*189del (n.*182_*189del) c.108_115del (p.Glu37Ter) c.1024_1031del n.1195_1202del n.453_460del c.*863_*870del (n.*863_*870del) c.678-3115_678-3108del (n.678-3115_678-3108del) c.*1211_*1218del (n.*1211_*1218del) c.*949_*956del (n.*949_*956del) n.962_969del n.919_926del c.146_153del c.358_365del c.1046_1053del c.258_265del c.864_871del (p.Glu289Ter) c.48_55del (p.Glu17Ter) c.-4_4del c.972_979del (p.Glu325Ter) | ClinVar dbSNP |
| 3 | g.37025670dup | CA2580069484 | MLH1 | c.1072dup (p.Glu358GlyfsTer4) c.778dup (p.Glu260GlyfsTer4) c.918dup (p.Arg307GlufsTer?) c.349dup (p.Glu117GlyfsTer4) c.101dup (p.Asp35ArgfsTer9) c.*904dup (n.*904dup) n.880dup c.*183dup (n.*183dup) c.109dup (p.Glu37GlyfsTer4) c.1025dup n.1196dup n.454dup c.*864dup (n.*864dup) c.678-3114dup (n.678-3114dup) c.*1212dup (n.*1212dup) c.*950dup (n.*950dup) n.963dup n.920dup c.147dup c.359dup c.1047dup c.259dup c.865dup (p.Glu289GlyfsTer4) c.49dup (p.Glu17GlyfsTer4) c.-3dup (n.-3dup) c.973dup (p.Glu325GlyfsTer4) | ClinVar |
| 3 | g.37025670del | CA004268 | MLH1 | c.1072del (p.Glu358ArgfsTer9) c.778del (p.Glu260ArgfsTer9) c.918del (p.Arg307AspfsTer3) c.349del (p.Glu117ArgfsTer9) c.101del (p.Gly34GlufsTer?) c.*904del (n.*904del) n.880del c.*183del (n.*183del) c.109del (p.Glu37ArgfsTer9) c.1025del n.1196del n.454del c.*864del (n.*864del) c.678-3114del (n.678-3114del) c.*1212del (n.*1212del) c.*950del (n.*950del) n.963del n.920del c.147del c.359del c.1047del c.259del c.865del (p.Glu289ArgfsTer9) c.49del (p.Glu17ArgfsTer9) c.-3del (n.-3del) c.973del (p.Glu325ArgfsTer9) | ClinVar dbSNP |
| 3 | g.37025667_37025674delinsGGGGAGAT | CA1357880261 | MLH1 | c.1069_1076delinsGGGGAGAT (p.Gly357=) c.775_782delinsGGGGAGAT (p.Gly259=) c.915_922delinsGGGGAGAT (p.Leu305=) c.346_353delinsGGGGAGAT (p.Gly116=) c.98_105delinsGGGGAGAT (p.Trp33=) c.*901_*908delinsGGGGAGAT (n.*901_*908delinsGGGGAGAT) n.877_884delinsGGGGAGAT c.*180_*187delinsGGGGAGAT (n.*180_*187delinsGGGGAGAT) c.106_113delinsGGGGAGAT (p.Gly36=) c.1022_1029delinsGGGGAGAT n.1193_1200delinsGGGGAGAT n.451_458delinsGGGGAGAT c.*861_*868delinsGGGGAGAT (n.*861_*868delinsGGGGAGAT) c.678-3117_678-3110delinsGGGGAGAT (n.678-3117_678-3110delinsGGGGAGAT) c.*1209_*1216delinsGGGGAGAT (n.*1209_*1216delinsGGGGAGAT) c.*947_*954delinsGGGGAGAT (n.*947_*954delinsGGGGAGAT) n.960_967delinsGGGGAGAT n.917_924delinsGGGGAGAT c.144_151delinsGGGGAGAT c.356_363delinsGGGGAGAT c.1044_1051delinsGGGGAGAT c.256_263delinsGGGGAGAT c.862_869delinsGGGGAGAT (p.Gly288=) c.46_53delinsGGGGAGAT (p.Gly16=) c.-6_2delinsGGGGAGAT c.970_977delinsGGGGAGAT (p.Gly324=) | |
| 3 | g.37025670_37025676del | CA16611415 | MLH1 | c.1072_1078del (p.Glu358LeufsTer7) c.778_784del (p.Glu260LeufsTer7) c.918_924del (p.Arg307Ter) c.349_355del (p.Glu117LeufsTer7) c.101_107del (p.Gly34ValfsTer?) c.*904_*910del (n.*904_*910del) n.880_886del c.*183_*189del (n.*183_*189del) c.109_115del (p.Glu37LeufsTer7) c.1025_1031del n.1196_1202del n.454_460del c.*864_*870del (n.*864_*870del) c.678-3114_678-3108del (n.678-3114_678-3108del) c.*1212_*1218del (n.*1212_*1218del) c.*950_*956del (n.*950_*956del) n.963_969del n.920_926del c.147_153del c.359_365del c.1047_1053del c.259_265del c.865_871del (p.Glu289LeufsTer7) c.49_55del (p.Glu17LeufsTer7) c.-3_4del c.973_979del (p.Glu325LeufsTer7) | ClinVar dbSNP |
| 3 | g.37025669_37025676delinsTGGGGAGA | CA72795971 | MLH1 | c.1071_1078delinsTGGGGAGA (p.Glu358_Val360delinsGlyGluIle) c.777_784delinsTGGGGAGA (p.Glu260_Val262delinsGlyGluIle) c.917_924delinsTGGGGAGA (p.Gly306_Trp308delinsValGlyArg) c.348_355delinsTGGGGAGA (p.Glu117_Val119delinsGlyGluIle) c.100_107delinsTGGGGAGA (p.Gly34_Gly36delinsTrpGlyAsp) c.*903_*910delinsTGGGGAGA (n.*903_*910delinsTGGGGAGA) n.879_886delinsTGGGGAGA c.*182_*189delinsTGGGGAGA (n.*182_*189delinsTGGGGAGA) c.108_115delinsTGGGGAGA (p.Glu37_Val39delinsGlyGluIle) c.1024_1031delinsTGGGGAGA n.1195_1202delinsTGGGGAGA n.453_460delinsTGGGGAGA c.*863_*870delinsTGGGGAGA (n.*863_*870delinsTGGGGAGA) c.678-3115_678-3108delinsTGGGGAGA (n.678-3115_678-3108delinsTGGGGAGA) c.*1211_*1218delinsTGGGGAGA (n.*1211_*1218delinsTGGGGAGA) c.*949_*956delinsTGGGGAGA (n.*949_*956delinsTGGGGAGA) n.962_969delinsTGGGGAGA n.919_926delinsTGGGGAGA c.146_153delinsTGGGGAGA c.358_365delinsTGGGGAGA c.1046_1053delinsTGGGGAGA c.258_265delinsTGGGGAGA c.864_871delinsTGGGGAGA (p.Glu289_Val291delinsGlyGluIle) c.48_55delinsTGGGGAGA (p.Glu17_Val19delinsGlyGluIle) c.-4_4delinsTGGGGAGA c.972_979delinsTGGGGAGA (p.Glu325_Val327delinsGlyGluIle) | |
| 3 | g.37025670G>A | CA352052079 | MLH1 | c.1072G>A (p.Glu358Lys) c.778G>A (p.Glu260Lys) c.918G>A (p.Gly306=) c.349G>A (p.Glu117Lys) c.101G>A (p.Gly34Glu) c.*904G>A (n.*904G>A) n.880G>A c.*183G>A (n.*183G>A) c.109G>A (p.Glu37Lys) c.1025G>A n.1196G>A n.454G>A c.*864G>A (n.*864G>A) c.678-3114G>A (n.678-3114G>A) c.*1212G>A (n.*1212G>A) c.*950G>A (n.*950G>A) n.963G>A n.920G>A c.147G>A c.359G>A c.1047G>A c.259G>A c.865G>A (p.Glu289Lys) c.49G>A (p.Glu17Lys) c.-3G>A (n.-3G>A) c.973G>A (p.Glu325Lys) | ClinVar dbSNP |
| 3 | g.37025670G>C | CA352052080 | MLH1 | c.1072G>C (p.Glu358Gln) c.778G>C (p.Glu260Gln) c.918G>C (p.Gly306=) c.349G>C (p.Glu117Gln) c.101G>C (p.Gly34Ala) c.*904G>C (n.*904G>C) n.880G>C c.*183G>C (n.*183G>C) c.109G>C (p.Glu37Gln) c.1025G>C n.1196G>C n.454G>C c.*864G>C (n.*864G>C) c.678-3114G>C (n.678-3114G>C) c.*1212G>C (n.*1212G>C) c.*950G>C (n.*950G>C) n.963G>C n.920G>C c.147G>C c.359G>C c.1047G>C c.259G>C c.865G>C (p.Glu289Gln) c.49G>C (p.Glu17Gln) c.-3G>C (n.-3G>C) c.973G>C (p.Glu325Gln) | ClinVar dbSNP |
| 3 | g.37025670G= | CA1357880264 | MLH1 | c.1072G= (p.Glu358=) c.778G= (p.Glu260=) c.918G= (p.Gly306=) c.349G= (p.Glu117=) c.101G= (p.Gly34=) c.*904G= (n.*904G=) n.880G= c.*183G= (n.*183G=) c.109G= (p.Glu37=) c.1025G= n.1196G= n.454G= c.*864G= (n.*864G=) c.678-3114G= (n.678-3114G=) c.*1212G= (n.*1212G=) c.*950G= (n.*950G=) n.963G= n.920G= c.147G= c.359G= c.1047G= c.259G= c.865G= (p.Glu289=) c.49G= (p.Glu17=) c.-3G= (n.-3G=) c.973G= (p.Glu325=) | |
| 3 | g.37025670G>T | CA352052081 | MLH1 | c.1072G>T (p.Glu358Ter) c.778G>T (p.Glu260Ter) c.918G>T (p.Gly306=) c.349G>T (p.Glu117Ter) c.101G>T (p.Gly34Val) c.*904G>T (n.*904G>T) n.880G>T c.*183G>T (n.*183G>T) c.109G>T (p.Glu37Ter) c.1025G>T n.1196G>T n.454G>T c.*864G>T (n.*864G>T) c.678-3114G>T (n.678-3114G>T) c.*1212G>T (n.*1212G>T) c.*950G>T (n.*950G>T) n.963G>T n.920G>T c.147G>T c.359G>T c.1047G>T c.259G>T c.865G>T (p.Glu289Ter) c.49G>T (p.Glu17Ter) c.-3G>T (n.-3G>T) c.973G>T (p.Glu325Ter) | ClinVar dbSNP |
| 3 | g.37025671A>C | CA352052082 | MLH1 | c.1073A>C (p.Glu358Ala) c.779A>C (p.Glu260Ala) c.919A>C (p.Arg307=) c.350A>C (p.Glu117Ala) c.102A>C (p.Gly34=) c.*905A>C (n.*905A>C) n.881A>C c.*184A>C (n.*184A>C) c.110A>C (p.Glu37Ala) c.1026A>C n.1197A>C n.455A>C c.*865A>C (n.*865A>C) c.678-3113A>C (n.678-3113A>C) c.*1213A>C (n.*1213A>C) c.*951A>C (n.*951A>C) n.964A>C n.921A>C c.148A>C c.360A>C c.1048A>C c.260A>C c.866A>C (p.Glu289Ala) c.50A>C (p.Glu17Ala) c.-2A>C (n.-2A>C) c.974A>C (p.Glu325Ala) | |
| 3 | g.37025671A>G | CA352052083 | MLH1 | c.1073A>G (p.Glu358Gly) c.779A>G (p.Glu260Gly) c.919A>G (p.Arg307Gly) c.350A>G (p.Glu117Gly) c.102A>G (p.Gly34=) c.*905A>G (n.*905A>G) n.881A>G c.*184A>G (n.*184A>G) c.110A>G (p.Glu37Gly) c.1026A>G n.1197A>G n.455A>G c.*865A>G (n.*865A>G) c.678-3113A>G (n.678-3113A>G) c.*1213A>G (n.*1213A>G) c.*951A>G (n.*951A>G) n.964A>G n.921A>G c.148A>G c.360A>G c.1048A>G c.260A>G c.866A>G (p.Glu289Gly) c.50A>G (p.Glu17Gly) c.-2A>G (n.-2A>G) c.974A>G (p.Glu325Gly) | dbSNP |
| 3 | g.37025671A>T | CA352052084 | MLH1 | c.1073A>T (p.Glu358Val) c.779A>T (p.Glu260Val) c.919A>T (p.Arg307Ter) c.350A>T (p.Glu117Val) c.102A>T (p.Gly34=) c.*905A>T (n.*905A>T) n.881A>T c.*184A>T (n.*184A>T) c.110A>T (p.Glu37Val) c.1026A>T n.1197A>T n.455A>T c.*865A>T (n.*865A>T) c.678-3113A>T (n.678-3113A>T) c.*1213A>T (n.*1213A>T) c.*951A>T (n.*951A>T) n.964A>T n.921A>T c.148A>T c.360A>T c.1048A>T c.260A>T c.866A>T (p.Glu289Val) c.50A>T (p.Glu17Val) c.-2A>T (n.-2A>T) c.974A>T (p.Glu325Val) | dbSNP |
| 3 | g.37025672G>A | CA004275 | MLH1 | c.1074G>A (p.Glu358=) c.780G>A (p.Glu260=) c.920G>A (p.Arg307Lys) c.351G>A (p.Glu117=) c.103G>A (p.Asp35Asn) c.*906G>A (n.*906G>A) n.882G>A c.*185G>A (n.*185G>A) c.111G>A (p.Glu37=) c.1027G>A n.1198G>A n.456G>A c.*866G>A (n.*866G>A) c.678-3112G>A (n.678-3112G>A) c.*1214G>A (n.*1214G>A) c.*952G>A (n.*952G>A) n.965G>A n.922G>A c.149G>A c.361G>A c.1049G>A c.261G>A c.867G>A (p.Glu289=) c.51G>A (p.Glu17=) c.-1G>A (n.-1G>A) c.975G>A (p.Glu325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.37025672G>C | CA352052085 | MLH1 | c.1074G>C (p.Glu358Asp) c.780G>C (p.Glu260Asp) c.920G>C (p.Arg307Thr) c.351G>C (p.Glu117Asp) c.103G>C (p.Asp35His) c.*906G>C (n.*906G>C) n.882G>C c.*185G>C (n.*185G>C) c.111G>C (p.Glu37Asp) c.1027G>C n.1198G>C n.456G>C c.*866G>C (n.*866G>C) c.678-3112G>C (n.678-3112G>C) c.*1214G>C (n.*1214G>C) c.*952G>C (n.*952G>C) n.965G>C n.922G>C c.149G>C c.361G>C c.1049G>C c.261G>C c.867G>C (p.Glu289Asp) c.51G>C (p.Glu17Asp) c.-1G>C (n.-1G>C) c.975G>C (p.Glu325Asp) | dbSNP |
| 3 | g.37025672G= | CA1357880265 | MLH1 | c.1074G= (p.Glu358=) c.780G= (p.Glu260=) c.920G= (p.Arg307=) c.351G= (p.Glu117=) c.103G= (p.Asp35=) c.*906G= (n.*906G=) n.882G= c.*185G= (n.*185G=) c.111G= (p.Glu37=) c.1027G= n.1198G= n.456G= c.*866G= (n.*866G=) c.678-3112G= (n.678-3112G=) c.*1214G= (n.*1214G=) c.*952G= (n.*952G=) n.965G= n.922G= c.149G= c.361G= c.1049G= c.261G= c.867G= (p.Glu289=) c.51G= (p.Glu17=) c.-1G= (n.-1G=) c.975G= (p.Glu325=) | |
| 3 | g.37025672G>T | CA352052086 | MLH1 | c.1074G>T (p.Glu358Asp) c.780G>T (p.Glu260Asp) c.920G>T (p.Arg307Ile) c.351G>T (p.Glu117Asp) c.103G>T (p.Asp35Tyr) c.*906G>T (n.*906G>T) n.882G>T c.*185G>T (n.*185G>T) c.111G>T (p.Glu37Asp) c.1027G>T n.1198G>T n.456G>T c.*866G>T (n.*866G>T) c.678-3112G>T (n.678-3112G>T) c.*1214G>T (n.*1214G>T) c.*952G>T (n.*952G>T) n.965G>T n.922G>T c.149G>T c.361G>T c.1049G>T c.261G>T c.867G>T (p.Glu289Asp) c.51G>T (p.Glu17Asp) c.-1G>T (n.-1G>T) c.975G>T (p.Glu325Asp) | |
| 3 | g.37025673A= | CA1357880266 | MLH1 | c.1075A= (p.Met359=) c.781A= (p.Met261=) c.921A= (p.Arg307=) c.352A= (p.Met118=) c.104A= (p.Asp35=) c.*907A= (n.*907A=) n.883A= c.*186A= (n.*186A=) c.112A= (p.Met38=) c.1028A= n.1199A= n.457A= c.*867A= (n.*867A=) c.678-3111A= (n.678-3111A=) c.*1215A= (n.*1215A=) c.*953A= (n.*953A=) n.966A= n.923A= c.150A= c.362A= c.1050A= c.262A= c.868A= (p.Met290=) c.52A= (p.Met18=) c.1A= (p.Met1=) c.976A= (p.Met326=) | |
| 3 | g.37025673A>C | CA352052087 | MLH1 | c.1075A>C (p.Met359Leu) c.781A>C (p.Met261Leu) c.921A>C (p.Arg307Ser) c.352A>C (p.Met118Leu) c.104A>C (p.Asp35Ala) c.*907A>C (n.*907A>C) n.883A>C c.*186A>C (n.*186A>C) c.112A>C (p.Met38Leu) c.1028A>C n.1199A>C n.457A>C c.*867A>C (n.*867A>C) c.678-3111A>C (n.678-3111A>C) c.*1215A>C (n.*1215A>C) c.*953A>C (n.*953A>C) n.966A>C n.923A>C c.150A>C c.362A>C c.1050A>C c.262A>C c.868A>C (p.Met290Leu) c.52A>C (p.Met18Leu) c.1A>C (p.Met1Leu) c.976A>C (p.Met326Leu) | |
| 3 | g.37025673A>G | CA352052088 | MLH1 | c.1075A>G (p.Met359Val) c.781A>G (p.Met261Val) c.921A>G (p.Arg307=) c.352A>G (p.Met118Val) c.104A>G (p.Asp35Gly) c.*907A>G (n.*907A>G) n.883A>G c.*186A>G (n.*186A>G) c.112A>G (p.Met38Val) c.1028A>G n.1199A>G n.457A>G c.*867A>G (n.*867A>G) c.678-3111A>G (n.678-3111A>G) c.*1215A>G (n.*1215A>G) c.*953A>G (n.*953A>G) n.966A>G n.923A>G c.150A>G c.362A>G c.1050A>G c.262A>G c.868A>G (p.Met290Val) c.52A>G (p.Met18Val) c.1A>G (p.Met1Val) c.976A>G (p.Met326Val) | ClinVar dbSNP |
| 3 | g.37025673A>T | CA352052089 | MLH1 | c.1075A>T (p.Met359Leu) c.781A>T (p.Met261Leu) c.921A>T (p.Arg307Ser) c.352A>T (p.Met118Leu) c.104A>T (p.Asp35Val) c.*907A>T (n.*907A>T) n.883A>T c.*186A>T (n.*186A>T) c.112A>T (p.Met38Leu) c.1028A>T n.1199A>T n.457A>T c.*867A>T (n.*867A>T) c.678-3111A>T (n.678-3111A>T) c.*1215A>T (n.*1215A>T) c.*953A>T (n.*953A>T) n.966A>T n.923A>T c.150A>T c.362A>T c.1050A>T c.262A>T c.868A>T (p.Met290Leu) c.52A>T (p.Met18Leu) c.1A>T (p.Met1Leu) c.976A>T (p.Met326Leu) | ClinVar dbSNP |
| 3 | g.37025674T>A | CA352052090 | MLH1 | c.1076T>A (p.Met359Lys) c.782T>A (p.Met261Lys) c.922T>A (p.Trp308Arg) c.353T>A (p.Met118Lys) c.105T>A (p.Asp35Glu) c.*908T>A (n.*908T>A) n.884T>A c.*187T>A (n.*187T>A) c.113T>A (p.Met38Lys) c.1029T>A n.1200T>A n.458T>A c.*868T>A (n.*868T>A) c.678-3110T>A (n.678-3110T>A) c.*1216T>A (n.*1216T>A) c.*954T>A (n.*954T>A) n.967T>A n.924T>A c.151T>A c.363T>A c.1051T>A c.263T>A c.869T>A (p.Met290Lys) c.53T>A (p.Met18Lys) c.2T>A (p.Met1Lys) c.977T>A (p.Met326Lys) | |
| 3 | g.37025674T>C | CA027081 | MLH1 | c.1076T>C (p.Met359Thr) c.782T>C (p.Met261Thr) c.922T>C (p.Trp308Arg) c.353T>C (p.Met118Thr) c.105T>C (p.Asp35=) c.*908T>C (n.*908T>C) n.884T>C c.*187T>C (n.*187T>C) c.113T>C (p.Met38Thr) c.1029T>C n.1200T>C n.458T>C c.*868T>C (n.*868T>C) c.678-3110T>C (n.678-3110T>C) c.*1216T>C (n.*1216T>C) c.*954T>C (n.*954T>C) n.967T>C n.924T>C c.151T>C c.363T>C c.1051T>C c.263T>C c.869T>C (p.Met290Thr) c.53T>C (p.Met18Thr) c.2T>C (p.Met1Thr) c.977T>C (p.Met326Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.37025674T>G | CA352052091 | MLH1 | c.1076T>G (p.Met359Arg) c.782T>G (p.Met261Arg) c.922T>G (p.Trp308Gly) c.353T>G (p.Met118Arg) c.105T>G (p.Asp35Glu) c.*908T>G (n.*908T>G) n.884T>G c.*187T>G (n.*187T>G) c.113T>G (p.Met38Arg) c.1029T>G n.1200T>G n.458T>G c.*868T>G (n.*868T>G) c.678-3110T>G (n.678-3110T>G) c.*1216T>G (n.*1216T>G) c.*954T>G (n.*954T>G) n.967T>G n.924T>G c.151T>G c.363T>G c.1051T>G c.263T>G c.869T>G (p.Met290Arg) c.53T>G (p.Met18Arg) c.2T>G (p.Met1Arg) c.977T>G (p.Met326Arg) | |
| 3 | g.37025674T= | CA1357880267 | MLH1 | c.1076T= (p.Met359=) c.782T= (p.Met261=) c.922T= (p.Trp308=) c.353T= (p.Met118=) c.105T= (p.Asp35=) c.*908T= (n.*908T=) n.884T= c.*187T= (n.*187T=) c.113T= (p.Met38=) c.1029T= n.1200T= n.458T= c.*868T= (n.*868T=) c.678-3110T= (n.678-3110T=) c.*1216T= (n.*1216T=) c.*954T= (n.*954T=) n.967T= n.924T= c.151T= c.363T= c.1051T= c.263T= c.869T= (p.Met290=) c.53T= (p.Met18=) c.2T= (p.Met1=) c.977T= (p.Met326=) | |
| 3 | g.37025675G>A | CA352052092 | MLH1 | c.1077G>A (p.Met359Ile) c.783G>A (p.Met261Ile) c.923G>A (p.Trp308Ter) c.354G>A (p.Met118Ile) c.106G>A (p.Gly36Ser) c.*909G>A (n.*909G>A) n.885G>A c.*188G>A (n.*188G>A) c.114G>A (p.Met38Ile) c.1030G>A n.1201G>A n.459G>A c.*869G>A (n.*869G>A) c.678-3109G>A (n.678-3109G>A) c.*1217G>A (n.*1217G>A) c.*955G>A (n.*955G>A) n.968G>A n.925G>A c.152G>A c.364G>A c.1052G>A c.264G>A c.870G>A (p.Met290Ile) c.54G>A (p.Met18Ile) c.3G>A (p.Met1Ile) c.978G>A (p.Met326Ile) | |
| 3 | g.37025675G>C | CA352052094 | MLH1 | c.1077G>C (p.Met359Ile) c.783G>C (p.Met261Ile) c.923G>C (p.Trp308Ser) c.354G>C (p.Met118Ile) c.106G>C (p.Gly36Arg) c.*909G>C (n.*909G>C) n.885G>C c.*188G>C (n.*188G>C) c.114G>C (p.Met38Ile) c.1030G>C n.1201G>C n.459G>C c.*869G>C (n.*869G>C) c.678-3109G>C (n.678-3109G>C) c.*1217G>C (n.*1217G>C) c.*955G>C (n.*955G>C) n.968G>C n.925G>C c.152G>C c.364G>C c.1052G>C c.264G>C c.870G>C (p.Met290Ile) c.54G>C (p.Met18Ile) c.3G>C (p.Met1Ile) c.978G>C (p.Met326Ile) | dbSNP |
| 3 | g.37025675G>T | CA352052093 | MLH1 | c.1077G>T (p.Met359Ile) c.783G>T (p.Met261Ile) c.923G>T (p.Trp308Leu) c.354G>T (p.Met118Ile) c.106G>T (p.Gly36Cys) c.*909G>T (n.*909G>T) n.885G>T c.*188G>T (n.*188G>T) c.114G>T (p.Met38Ile) c.1030G>T n.1201G>T n.459G>T c.*869G>T (n.*869G>T) c.678-3109G>T (n.678-3109G>T) c.*1217G>T (n.*1217G>T) c.*955G>T (n.*955G>T) n.968G>T n.925G>T c.152G>T c.364G>T c.1052G>T c.264G>T c.870G>T (p.Met290Ile) c.54G>T (p.Met18Ile) c.3G>T (p.Met1Ile) c.978G>T (p.Met326Ile) | dbSNP |
| 3 | g.37025676G>A | CA352052095 | MLH1 | c.1078G>A (p.Val360Ile) c.784G>A (p.Val262Ile) c.924G>A (p.Trp308Ter) c.355G>A (p.Val119Ile) c.107G>A (p.Gly36Asp) c.*910G>A (n.*910G>A) n.886G>A c.*189G>A (n.*189G>A) c.115G>A (p.Val39Ile) c.1031G>A n.1202G>A n.460G>A c.*870G>A (n.*870G>A) c.678-3108G>A (n.678-3108G>A) c.*1218G>A (n.*1218G>A) c.*956G>A (n.*956G>A) n.969G>A n.926G>A c.153G>A c.365G>A c.1053G>A c.265G>A c.871G>A (p.Val291Ile) c.55G>A (p.Val19Ile) c.4G>A (p.Val2Ile) c.979G>A (p.Val327Ile) | dbSNP gnomAD v4 |
| 3 | g.37025676G>C | CA352052096 | MLH1 | c.1078G>C (p.Val360Leu) c.784G>C (p.Val262Leu) c.924G>C (p.Trp308Cys) c.355G>C (p.Val119Leu) c.107G>C (p.Gly36Ala) c.*910G>C (n.*910G>C) n.886G>C c.*189G>C (n.*189G>C) c.115G>C (p.Val39Leu) c.1031G>C n.1202G>C n.460G>C c.*870G>C (n.*870G>C) c.678-3108G>C (n.678-3108G>C) c.*1218G>C (n.*1218G>C) c.*956G>C (n.*956G>C) n.969G>C n.926G>C c.153G>C c.365G>C c.1053G>C c.265G>C c.871G>C (p.Val291Leu) c.55G>C (p.Val19Leu) c.4G>C (p.Val2Leu) c.979G>C (p.Val327Leu) | ClinVar dbSNP |
| 3 | g.37025676G= | CA1357880268 | MLH1 | c.1078G= (p.Val360=) c.784G= (p.Val262=) c.924G= (p.Trp308=) c.355G= (p.Val119=) c.107G= (p.Gly36=) c.*910G= (n.*910G=) n.886G= c.*189G= (n.*189G=) c.115G= (p.Val39=) c.1031G= n.1202G= n.460G= c.*870G= (n.*870G=) c.678-3108G= (n.678-3108G=) c.*1218G= (n.*1218G=) c.*956G= (n.*956G=) n.969G= n.926G= c.153G= c.365G= c.1053G= c.265G= c.871G= (p.Val291=) c.55G= (p.Val19=) c.4G= (p.Val2=) c.979G= (p.Val327=) | |
| 3 | g.37025676G>T | CA10582169 | MLH1 | c.1078G>T (p.Val360Phe) c.784G>T (p.Val262Phe) c.924G>T (p.Trp308Cys) c.355G>T (p.Val119Phe) c.107G>T (p.Gly36Val) c.*910G>T (n.*910G>T) n.886G>T c.*189G>T (n.*189G>T) c.115G>T (p.Val39Phe) c.1031G>T n.1202G>T n.460G>T c.*870G>T (n.*870G>T) c.678-3108G>T (n.678-3108G>T) c.*1218G>T (n.*1218G>T) c.*956G>T (n.*956G>T) n.969G>T n.926G>T c.153G>T c.365G>T c.1053G>T c.265G>T c.871G>T (p.Val291Phe) c.55G>T (p.Val19Phe) c.4G>T (p.Val2Phe) c.979G>T (p.Val327Phe) | ClinVar dbSNP |
| 3 | g.37025676_37025685delinsGTTAAATCCA | CA1357880269 | MLH1 | c.1078_1087delinsGTTAAATCCA (p.Val360=) c.784_793delinsGTTAAATCCA (p.Val262=) c.924_933delinsGTTAAATCCA (p.Trp308=) c.355_364delinsGTTAAATCCA (p.Val119=) c.107_*5delinsGTTAAATCCA (n.[c.107_*5delinsGTTAAATCCA;Gly36=]) c.*910_*919delinsGTTAAATCCA (n.*910_*919delinsGTTAAATCCA) n.886_895delinsGTTAAATCCA c.*189_*198delinsGTTAAATCCA (n.*189_*198delinsGTTAAATCCA) c.115_124delinsGTTAAATCCA (p.Val39=) c.1031_1040delinsGTTAAATCCA n.1202_1211delinsGTTAAATCCA n.460_469delinsGTTAAATCCA c.*870_*879delinsGTTAAATCCA (n.*870_*879delinsGTTAAATCCA) c.678-3108_678-3099delinsGTTAAATCCA (n.678-3108_678-3099delinsGTTAAATCCA) c.*1218_*1227delinsGTTAAATCCA (n.*1218_*1227delinsGTTAAATCCA) c.*956_*965delinsGTTAAATCCA (n.*956_*965delinsGTTAAATCCA) n.969_978delinsGTTAAATCCA n.926_935delinsGTTAAATCCA c.153_162delinsGTTAAATCCA c.365_374delinsGTTAAATCCA c.1053_1062delinsGTTAAATCCA c.265_274delinsGTTAAATCCA c.871_880delinsGTTAAATCCA (p.Val291=) c.55_64delinsGTTAAATCCA (p.Val19=) c.4_13delinsGTTAAATCCA (p.Val2=) c.979_988delinsGTTAAATCCA (p.Val327=) | |
| 3 | g.37025677T>A | CA352052097 | MLH1 | c.1079T>A (p.Val360Asp) c.785T>A (p.Val262Asp) c.925T>A (p.Leu309Ile) c.356T>A (p.Val119Asp) c.108T>A (p.Gly36=) c.*911T>A (n.*911T>A) n.887T>A c.*190T>A (n.*190T>A) c.116T>A (p.Val39Asp) c.1032T>A n.1203T>A n.461T>A c.*871T>A (n.*871T>A) c.678-3107T>A (n.678-3107T>A) c.*1219T>A (n.*1219T>A) c.*957T>A (n.*957T>A) n.970T>A n.927T>A c.154T>A c.366T>A c.1054T>A c.266T>A c.872T>A (p.Val291Asp) c.56T>A (p.Val19Asp) c.5T>A (p.Val2Asp) c.980T>A (p.Val327Asp) | dbSNP |
| 3 | g.37025677T>C | CA352052098 | MLH1 | c.1079T>C (p.Val360Ala) c.785T>C (p.Val262Ala) c.925T>C (p.Leu309=) c.356T>C (p.Val119Ala) c.108T>C (p.Gly36=) c.*911T>C (n.*911T>C) n.887T>C c.*190T>C (n.*190T>C) c.116T>C (p.Val39Ala) c.1032T>C n.1203T>C n.461T>C c.*871T>C (n.*871T>C) c.678-3107T>C (n.678-3107T>C) c.*1219T>C (n.*1219T>C) c.*957T>C (n.*957T>C) n.970T>C n.927T>C c.154T>C c.366T>C c.1054T>C c.266T>C c.872T>C (p.Val291Ala) c.56T>C (p.Val19Ala) c.5T>C (p.Val2Ala) c.980T>C (p.Val327Ala) | ClinVar gnomAD v4 |
| 3 | g.37025677T>G | CA352052099 | MLH1 | c.1079T>G (p.Val360Gly) c.785T>G (p.Val262Gly) c.925T>G (p.Leu309Val) c.356T>G (p.Val119Gly) c.108T>G (p.Gly36=) c.*911T>G (n.*911T>G) n.887T>G c.*190T>G (n.*190T>G) c.116T>G (p.Val39Gly) c.1032T>G n.1203T>G n.461T>G c.*871T>G (n.*871T>G) c.678-3107T>G (n.678-3107T>G) c.*1219T>G (n.*1219T>G) c.*957T>G (n.*957T>G) n.970T>G n.927T>G c.154T>G c.366T>G c.1054T>G c.266T>G c.872T>G (p.Val291Gly) c.56T>G (p.Val19Gly) c.5T>G (p.Val2Gly) c.980T>G (p.Val327Gly) | dbSNP |
| 3 | g.37025677_37025685delinsC | CA16617909 | MLH1 | c.1079_1087delinsC (p.Val360AlafsTer13) c.785_793delinsC (p.Val262AlafsTer13) c.925_933delinsC (p.Leu309ProfsTer?) c.356_364delinsC (p.Val119AlafsTer13) c.108_*5delinsC (n.[c.108_*5delinsC;Ter37GlnextTer4]) c.*911_*919delinsC (n.*911_*919delinsC) n.887_895delinsC c.*190_*198delinsC (n.*190_*198delinsC) c.116_124delinsC (p.Val39AlafsTer13) c.1032_1040delinsC n.1203_1211delinsC n.461_469delinsC c.*871_*879delinsC (n.*871_*879delinsC) c.678-3107_678-3099delinsC (n.678-3107_678-3099delinsC) c.*1219_*1227delinsC (n.*1219_*1227delinsC) c.*957_*965delinsC (n.*957_*965delinsC) n.970_978delinsC n.927_935delinsC c.154_162delinsC c.366_374delinsC c.1054_1062delinsC c.266_274delinsC c.872_880delinsC (p.Val291AlafsTer13) c.56_64delinsC (p.Val19AlafsTer13) c.5_13delinsC (p.Val2AlafsTer13) c.980_988delinsC (p.Val327AlafsTer13) | ClinVar dbSNP |
| 3 | g.37025678T>A | CA433321680 | MLH1 | c.1080T>A (p.Val360=) c.786T>A (p.Val262=) c.926T>A (p.Leu309Ter) c.357T>A (p.Val119=) c.109T>A (p.Ter37Lys) c.*912T>A (n.*912T>A) n.888T>A c.*191T>A (n.*191T>A) c.117T>A (p.Val39=) c.1033T>A n.1204T>A n.462T>A c.*872T>A (n.*872T>A) c.678-3106T>A (n.678-3106T>A) c.*1220T>A (n.*1220T>A) c.*958T>A (n.*958T>A) n.971T>A n.928T>A c.155T>A c.367T>A c.1055T>A c.267T>A c.873T>A (p.Val291=) c.57T>A (p.Val19=) c.6T>A (p.Val2=) c.981T>A (p.Val327=) | |
| 3 | g.37025678T>C | CA433321681 | MLH1 | c.1080T>C (p.Val360=) c.786T>C (p.Val262=) c.926T>C (p.Leu309Ser) c.357T>C (p.Val119=) c.109T>C (p.Ter37Gln) c.*912T>C (n.*912T>C) n.888T>C c.*191T>C (n.*191T>C) c.117T>C (p.Val39=) c.1033T>C n.1204T>C n.462T>C c.*872T>C (n.*872T>C) c.678-3106T>C (n.678-3106T>C) c.*1220T>C (n.*1220T>C) c.*958T>C (n.*958T>C) n.971T>C n.928T>C c.155T>C c.367T>C c.1055T>C c.267T>C c.873T>C (p.Val291=) c.57T>C (p.Val19=) c.6T>C (p.Val2=) c.981T>C (p.Val327=) | ClinVar |
| 3 | g.37025678T>G | CA433321682 | MLH1 | c.1080T>G (p.Val360=) c.786T>G (p.Val262=) c.926T>G (p.Leu309Ter) c.357T>G (p.Val119=) c.109T>G (p.Ter37Glu) c.*912T>G (n.*912T>G) n.888T>G c.*191T>G (n.*191T>G) c.117T>G (p.Val39=) c.1033T>G n.1204T>G n.462T>G c.*872T>G (n.*872T>G) c.678-3106T>G (n.678-3106T>G) c.*1220T>G (n.*1220T>G) c.*958T>G (n.*958T>G) n.971T>G n.928T>G c.155T>G c.367T>G c.1055T>G c.267T>G c.873T>G (p.Val291=) c.57T>G (p.Val19=) c.6T>G (p.Val2=) c.981T>G (p.Val327=) | |
| 3 | g.37025679A= | CA1357880270 | MLH1 | c.1081A= (p.Lys361=) c.787A= (p.Lys263=) c.927A= (p.Leu309=) c.358A= (p.Lys120=) c.110A= (p.Ter37=) c.*913A= (n.*913A=) n.889A= c.*192A= (n.*192A=) c.118A= (p.Lys40=) c.1034A= n.1205A= n.463A= c.*873A= (n.*873A=) c.678-3105A= (n.678-3105A=) c.*1221A= (n.*1221A=) c.*959A= (n.*959A=) n.972A= n.929A= c.156A= c.368A= c.1056A= c.268A= c.874A= (p.Lys292=) c.58A= (p.Lys20=) c.7A= (p.Lys3=) c.982A= (p.Lys328=) | |
| 3 | g.37025679A>C | CA352052100 | MLH1 | c.1081A>C (p.Lys361Gln) c.787A>C (p.Lys263Gln) c.927A>C (p.Leu309Phe) c.358A>C (p.Lys120Gln) c.110A>C (p.Ter37Ser) c.*913A>C (n.*913A>C) n.889A>C c.*192A>C (n.*192A>C) c.118A>C (p.Lys40Gln) c.1034A>C n.1205A>C n.463A>C c.*873A>C (n.*873A>C) c.678-3105A>C (n.678-3105A>C) c.*1221A>C (n.*1221A>C) c.*959A>C (n.*959A>C) n.972A>C n.929A>C c.156A>C c.368A>C c.1056A>C c.268A>C c.874A>C (p.Lys292Gln) c.58A>C (p.Lys20Gln) c.7A>C (p.Lys3Gln) c.982A>C (p.Lys328Gln) |