| 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.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.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.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) | |
| 3 | g.37025679A>G | CA004298 | MLH1 | c.1081A>G (p.Lys361Glu) c.787A>G (p.Lys263Glu) c.927A>G (p.Leu309=) c.358A>G (p.Lys120Glu) c.110A>G (p.Ter37=) c.*913A>G (n.*913A>G) n.889A>G c.*192A>G (n.*192A>G) c.118A>G (p.Lys40Glu) c.1034A>G n.1205A>G n.463A>G c.*873A>G (n.*873A>G) c.678-3105A>G (n.678-3105A>G) c.*1221A>G (n.*1221A>G) c.*959A>G (n.*959A>G) n.972A>G n.929A>G c.156A>G c.368A>G c.1056A>G c.268A>G c.874A>G (p.Lys292Glu) c.58A>G (p.Lys20Glu) c.7A>G (p.Lys3Glu) c.982A>G (p.Lys328Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.37025679A>T | CA352052101 | MLH1 | c.1081A>T (p.Lys361Ter) c.787A>T (p.Lys263Ter) c.927A>T (p.Leu309Phe) c.358A>T (p.Lys120Ter) c.110A>T (p.Ter37Leu) c.*913A>T (n.*913A>T) n.889A>T c.*192A>T (n.*192A>T) c.118A>T (p.Lys40Ter) c.1034A>T n.1205A>T n.463A>T c.*873A>T (n.*873A>T) c.678-3105A>T (n.678-3105A>T) c.*1221A>T (n.*1221A>T) c.*959A>T (n.*959A>T) n.972A>T n.929A>T c.156A>T c.368A>T c.1056A>T c.268A>T c.874A>T (p.Lys292Ter) c.58A>T (p.Lys20Ter) c.7A>T (p.Lys3Ter) c.982A>T (p.Lys328Ter) | ClinVar dbSNP |
| 3 | g.37025680A>C | CA352052104 | MLH1 | c.1082A>C (p.Lys361Thr) c.788A>C (p.Lys263Thr) c.928A>C (p.Asn310His) c.359A>C (p.Lys120Thr) c.111A>C (p.Ter37Tyr) c.*914A>C (n.*914A>C) n.890A>C c.*193A>C (n.*193A>C) c.119A>C (p.Lys40Thr) c.1035A>C n.1206A>C n.464A>C c.*874A>C (n.*874A>C) c.678-3104A>C (n.678-3104A>C) c.*1222A>C (n.*1222A>C) c.*960A>C (n.*960A>C) n.973A>C n.930A>C c.157A>C c.369A>C c.1057A>C c.269A>C c.875A>C (p.Lys292Thr) c.59A>C (p.Lys20Thr) c.8A>C (p.Lys3Thr) c.983A>C (p.Lys328Thr) | |
| 3 | g.37025680A>G | CA352052103 | MLH1 | c.1082A>G (p.Lys361Arg) c.788A>G (p.Lys263Arg) c.928A>G (p.Asn310Asp) c.359A>G (p.Lys120Arg) c.111A>G (p.Ter37=) c.*914A>G (n.*914A>G) n.890A>G c.*193A>G (n.*193A>G) c.119A>G (p.Lys40Arg) c.1035A>G n.1206A>G n.464A>G c.*874A>G (n.*874A>G) c.678-3104A>G (n.678-3104A>G) c.*1222A>G (n.*1222A>G) c.*960A>G (n.*960A>G) n.973A>G n.930A>G c.157A>G c.369A>G c.1057A>G c.269A>G c.875A>G (p.Lys292Arg) c.59A>G (p.Lys20Arg) c.8A>G (p.Lys3Arg) c.983A>G (p.Lys328Arg) | dbSNP |
| 3 | g.37025680A>T | CA352052102 | MLH1 | c.1082A>T (p.Lys361Ile) c.788A>T (p.Lys263Ile) c.928A>T (p.Asn310Tyr) c.359A>T (p.Lys120Ile) c.111A>T (p.Ter37Tyr) c.*914A>T (n.*914A>T) n.890A>T c.*193A>T (n.*193A>T) c.119A>T (p.Lys40Ile) c.1035A>T n.1206A>T n.464A>T c.*874A>T (n.*874A>T) c.678-3104A>T (n.678-3104A>T) c.*1222A>T (n.*1222A>T) c.*960A>T (n.*960A>T) n.973A>T n.930A>T c.157A>T c.369A>T c.1057A>T c.269A>T c.875A>T (p.Lys292Ile) c.59A>T (p.Lys20Ile) c.8A>T (p.Lys3Ile) c.983A>T (p.Lys328Ile) | ClinVar dbSNP |
| 3 | g.37025681A= | CA1357880271 | MLH1 | c.1083A= (p.Lys361=) c.789A= (p.Lys263=) c.929A= (p.Asn310=) c.360A= (p.Lys120=) c.*1A= (n.*1A=) c.*915A= (n.*915A=) n.891A= c.*194A= (n.*194A=) c.120A= (p.Lys40=) c.1036A= n.1207A= n.465A= c.*875A= (n.*875A=) c.678-3103A= (n.678-3103A=) c.*1223A= (n.*1223A=) c.*961A= (n.*961A=) n.974A= n.931A= c.158A= c.370A= c.1058A= c.270A= c.876A= (p.Lys292=) c.60A= (p.Lys20=) c.9A= (p.Lys3=) c.984A= (p.Lys328=) | |
| 3 | g.37025681A>C | CA352052105 | MLH1 | c.1083A>C (p.Lys361Asn) c.789A>C (p.Lys263Asn) c.929A>C (p.Asn310Thr) c.360A>C (p.Lys120Asn) c.*1A>C (n.*1A>C) c.*915A>C (n.*915A>C) n.891A>C c.*194A>C (n.*194A>C) c.120A>C (p.Lys40Asn) c.1036A>C n.1207A>C n.465A>C c.*875A>C (n.*875A>C) c.678-3103A>C (n.678-3103A>C) c.*1223A>C (n.*1223A>C) c.*961A>C (n.*961A>C) n.974A>C n.931A>C c.158A>C c.370A>C c.1058A>C c.270A>C c.876A>C (p.Lys292Asn) c.60A>C (p.Lys20Asn) c.9A>C (p.Lys3Asn) c.984A>C (p.Lys328Asn) | dbSNP |
| 3 | g.37025681A>G | CA433321683 | MLH1 | c.1083A>G (p.Lys361=) c.789A>G (p.Lys263=) c.929A>G (p.Asn310Ser) c.360A>G (p.Lys120=) c.*1A>G (n.*1A>G) c.*915A>G (n.*915A>G) n.891A>G c.*194A>G (n.*194A>G) c.120A>G (p.Lys40=) c.1036A>G n.1207A>G n.465A>G c.*875A>G (n.*875A>G) c.678-3103A>G (n.678-3103A>G) c.*1223A>G (n.*1223A>G) c.*961A>G (n.*961A>G) n.974A>G n.931A>G c.158A>G c.370A>G c.1058A>G c.270A>G c.876A>G (p.Lys292=) c.60A>G (p.Lys20=) c.9A>G (p.Lys3=) c.984A>G (p.Lys328=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.37025681A>T | CA352052106 | MLH1 | c.1083A>T (p.Lys361Asn) c.789A>T (p.Lys263Asn) c.929A>T (p.Asn310Ile) c.360A>T (p.Lys120Asn) c.*1A>T (n.*1A>T) c.*915A>T (n.*915A>T) n.891A>T c.*194A>T (n.*194A>T) c.120A>T (p.Lys40Asn) c.1036A>T n.1207A>T n.465A>T c.*875A>T (n.*875A>T) c.678-3103A>T (n.678-3103A>T) c.*1223A>T (n.*1223A>T) c.*961A>T (n.*961A>T) n.974A>T n.931A>T c.158A>T c.370A>T c.1058A>T c.270A>T c.876A>T (p.Lys292Asn) c.60A>T (p.Lys20Asn) c.9A>T (p.Lys3Asn) c.984A>T (p.Lys328Asn) | dbSNP |
| 3 | g.37025682del | CA2695197829 | MLH1 | c.1084del (p.Ser362ProfsTer5) c.790del (p.Ser264ProfsTer5) c.930del (p.Pro311HisfsTer13) c.361del (p.Ser121ProfsTer5) c.*2del (n.*2del) c.*916del (n.*916del) n.892del c.*195del (n.*195del) c.121del (p.Ser41ProfsTer5) c.1037del n.1208del n.466del c.*876del (n.*876del) c.678-3102del (n.678-3102del) c.*1224del (n.*1224del) c.*962del (n.*962del) n.975del n.932del c.159del c.371del c.1059del c.271del c.877del (p.Ser293ProfsTer5) c.61del (p.Ser21ProfsTer5) c.10del (p.Ser4ProfsTer5) c.985del (p.Ser329ProfsTer5) | ClinVar |
| 3 | g.37025682T>A | CA352052107 | MLH1 | c.1084T>A (p.Ser362Thr) c.790T>A (p.Ser264Thr) c.930T>A (p.Asn310Lys) c.361T>A (p.Ser121Thr) c.*2T>A (n.*2T>A) c.*916T>A (n.*916T>A) n.892T>A c.*195T>A (n.*195T>A) c.121T>A (p.Ser41Thr) c.1037T>A n.1208T>A n.466T>A c.*876T>A (n.*876T>A) c.678-3102T>A (n.678-3102T>A) c.*1224T>A (n.*1224T>A) c.*962T>A (n.*962T>A) n.975T>A n.932T>A c.159T>A c.371T>A c.1059T>A c.271T>A c.877T>A (p.Ser293Thr) c.61T>A (p.Ser21Thr) c.10T>A (p.Ser4Thr) c.985T>A (p.Ser329Thr) | dbSNP |
| 3 | g.37025682T>C | CA352052108 | MLH1 | c.1084T>C (p.Ser362Pro) c.790T>C (p.Ser264Pro) c.930T>C (p.Asn310=) c.361T>C (p.Ser121Pro) c.*2T>C (n.*2T>C) c.*916T>C (n.*916T>C) n.892T>C c.*195T>C (n.*195T>C) c.121T>C (p.Ser41Pro) c.1037T>C n.1208T>C n.466T>C c.*876T>C (n.*876T>C) c.678-3102T>C (n.678-3102T>C) c.*1224T>C (n.*1224T>C) c.*962T>C (n.*962T>C) n.975T>C n.932T>C c.159T>C c.371T>C c.1059T>C c.271T>C c.877T>C (p.Ser293Pro) c.61T>C (p.Ser21Pro) c.10T>C (p.Ser4Pro) c.985T>C (p.Ser329Pro) | |
| 3 | g.37025682T>G | CA352052109 | MLH1 | c.1084T>G (p.Ser362Ala) c.790T>G (p.Ser264Ala) c.930T>G (p.Asn310Lys) c.361T>G (p.Ser121Ala) c.*2T>G (n.*2T>G) c.*916T>G (n.*916T>G) n.892T>G c.*195T>G (n.*195T>G) c.121T>G (p.Ser41Ala) c.1037T>G n.1208T>G n.466T>G c.*876T>G (n.*876T>G) c.678-3102T>G (n.678-3102T>G) c.*1224T>G (n.*1224T>G) c.*962T>G (n.*962T>G) n.975T>G n.932T>G c.159T>G c.371T>G c.1059T>G c.271T>G c.877T>G (p.Ser293Ala) c.61T>G (p.Ser21Ala) c.10T>G (p.Ser4Ala) c.985T>G (p.Ser329Ala) | dbSNP |
| 3 | g.37025683C>A | CA352052110 | MLH1 | c.1085C>A (p.Ser362Tyr) c.791C>A (p.Ser264Tyr) c.931C>A (p.Pro311Thr) c.362C>A (p.Ser121Tyr) c.*3C>A (n.*3C>A) c.*917C>A (n.*917C>A) n.893C>A c.*196C>A (n.*196C>A) c.122C>A (p.Ser41Tyr) c.1038C>A n.1209C>A n.467C>A c.*877C>A (n.*877C>A) c.678-3101C>A (n.678-3101C>A) c.*1225C>A (n.*1225C>A) c.*963C>A (n.*963C>A) n.976C>A n.933C>A c.160C>A c.372C>A c.1060C>A c.272C>A c.878C>A (p.Ser293Tyr) c.62C>A (p.Ser21Tyr) c.11C>A (p.Ser4Tyr) c.986C>A (p.Ser329Tyr) | dbSNP gnomAD v4 |
| 3 | g.37025683C= | CA1357880272 | MLH1 | c.1085C= (p.Ser362=) c.791C= (p.Ser264=) c.931C= (p.Pro311=) c.362C= (p.Ser121=) c.*3C= (n.*3C=) c.*917C= (n.*917C=) n.893C= c.*196C= (n.*196C=) c.122C= (p.Ser41=) c.1038C= n.1209C= n.467C= c.*877C= (n.*877C=) c.678-3101C= (n.678-3101C=) c.*1225C= (n.*1225C=) c.*963C= (n.*963C=) n.976C= n.933C= c.160C= c.372C= c.1060C= c.272C= c.878C= (p.Ser293=) c.62C= (p.Ser21=) c.11C= (p.Ser4=) c.986C= (p.Ser329=) | |
| 3 | g.37025683C>G | CA352052111 | MLH1 | c.1085C>G (p.Ser362Cys) c.791C>G (p.Ser264Cys) c.931C>G (p.Pro311Ala) c.362C>G (p.Ser121Cys) c.*3C>G (n.*3C>G) c.*917C>G (n.*917C>G) n.893C>G c.*196C>G (n.*196C>G) c.122C>G (p.Ser41Cys) c.1038C>G n.1209C>G n.467C>G c.*877C>G (n.*877C>G) c.678-3101C>G (n.678-3101C>G) c.*1225C>G (n.*1225C>G) c.*963C>G (n.*963C>G) n.976C>G n.933C>G c.160C>G c.372C>G c.1060C>G c.272C>G c.878C>G (p.Ser293Cys) c.62C>G (p.Ser21Cys) c.11C>G (p.Ser4Cys) c.986C>G (p.Ser329Cys) | dbSNP |
| 3 | g.37025683C>T | CA352052112 | MLH1 | c.1085C>T (p.Ser362Phe) c.791C>T (p.Ser264Phe) c.931C>T (p.Pro311Ser) c.362C>T (p.Ser121Phe) c.*3C>T (n.*3C>T) c.*917C>T (n.*917C>T) n.893C>T c.*196C>T (n.*196C>T) c.122C>T (p.Ser41Phe) c.1038C>T n.1209C>T n.467C>T c.*877C>T (n.*877C>T) c.678-3101C>T (n.678-3101C>T) c.*1225C>T (n.*1225C>T) c.*963C>T (n.*963C>T) n.976C>T n.933C>T c.160C>T c.372C>T c.1060C>T c.272C>T c.878C>T (p.Ser293Phe) c.62C>T (p.Ser21Phe) c.11C>T (p.Ser4Phe) c.986C>T (p.Ser329Phe) | dbSNP |
| 3 | g.37025683_37025684delinsTTG | CA2586965683 | MLH1 | c.1085_1086delinsTTG (p.Ser362PhefsTer14) c.791_792delinsTTG (p.Ser264PhefsTer14) c.931_932delinsTTG (p.Pro311LeufsTer?) c.362_363delinsTTG (p.Ser121PhefsTer14) c.*3_*4delinsTTG (n.*3_*4delinsTTG) c.*917_*918delinsTTG (n.*917_*918delinsTTG) n.893_894delinsTTG c.*196_*197delinsTTG (n.*196_*197delinsTTG) c.122_123delinsTTG (p.Ser41PhefsTer14) c.1038_1039delinsTTG n.1209_1210delinsTTG n.467_468delinsTTG c.*877_*878delinsTTG (n.*877_*878delinsTTG) c.678-3101_678-3100delinsTTG (n.678-3101_678-3100delinsTTG) c.*1225_*1226delinsTTG (n.*1225_*1226delinsTTG) c.*963_*964delinsTTG (n.*963_*964delinsTTG) n.976_977delinsTTG n.933_934delinsTTG c.160_161delinsTTG c.372_373delinsTTG c.1060_1061delinsTTG c.272_273delinsTTG c.878_879delinsTTG (p.Ser293PhefsTer14) c.62_63delinsTTG (p.Ser21PhefsTer14) c.11_12delinsTTG (p.Ser4PhefsTer14) c.986_987delinsTTG (p.Ser329PhefsTer14) | |
| 3 | g.37025684C>A | CA433321684 | MLH1 | c.1086C>A (p.Ser362=) c.792C>A (p.Ser264=) c.932C>A (p.Pro311Gln) c.363C>A (p.Ser121=) c.*4C>A (n.*4C>A) c.*918C>A (n.*918C>A) n.894C>A c.*197C>A (n.*197C>A) c.123C>A (p.Ser41=) c.1039C>A n.1210C>A n.468C>A c.*878C>A (n.*878C>A) c.678-3100C>A (n.678-3100C>A) c.*1226C>A (n.*1226C>A) c.*964C>A (n.*964C>A) n.977C>A n.934C>A c.161C>A c.373C>A c.1061C>A c.273C>A c.879C>A (p.Ser293=) c.63C>A (p.Ser21=) c.12C>A (p.Ser4=) c.987C>A (p.Ser329=) | dbSNP |
| 3 | g.37025684C>G | CA433321685 | MLH1 | c.1086C>G (p.Ser362=) c.792C>G (p.Ser264=) c.932C>G (p.Pro311Arg) c.363C>G (p.Ser121=) c.*4C>G (n.*4C>G) c.*918C>G (n.*918C>G) n.894C>G c.*197C>G (n.*197C>G) c.123C>G (p.Ser41=) c.1039C>G n.1210C>G n.468C>G c.*878C>G (n.*878C>G) c.678-3100C>G (n.678-3100C>G) c.*1226C>G (n.*1226C>G) c.*964C>G (n.*964C>G) n.977C>G n.934C>G c.161C>G c.373C>G c.1061C>G c.273C>G c.879C>G (p.Ser293=) c.63C>G (p.Ser21=) c.12C>G (p.Ser4=) c.987C>G (p.Ser329=) | dbSNP |
| 3 | g.37025684C>T | CA433321686 | MLH1 | c.1086C>T (p.Ser362=) c.792C>T (p.Ser264=) c.932C>T (p.Pro311Leu) c.363C>T (p.Ser121=) c.*4C>T (n.*4C>T) c.*918C>T (n.*918C>T) n.894C>T c.*197C>T (n.*197C>T) c.123C>T (p.Ser41=) c.1039C>T n.1210C>T n.468C>T c.*878C>T (n.*878C>T) c.678-3100C>T (n.678-3100C>T) c.*1226C>T (n.*1226C>T) c.*964C>T (n.*964C>T) n.977C>T n.934C>T c.161C>T c.373C>T c.1061C>T c.273C>T c.879C>T (p.Ser293=) c.63C>T (p.Ser21=) c.12C>T (p.Ser4=) c.987C>T (p.Ser329=) | dbSNP COSMIC |
| 3 | g.37025684_37025687delinsCACA | CA1357880273 | MLH1 | c.1086_1089delinsCACA (p.Ser362=) c.792_795delinsCACA (p.Ser264=) c.932_935delinsCACA (p.Pro311=) c.363_366delinsCACA (p.Ser121=) c.*4_*7delinsCACA (n.*4_*7delinsCACA) c.*918_*921delinsCACA (n.*918_*921delinsCACA) n.894_897delinsCACA c.*197_*200delinsCACA (n.*197_*200delinsCACA) c.123_126delinsCACA (p.Ser41=) c.1039_1042delinsCACA n.1210_1213delinsCACA n.468_471delinsCACA c.*878_*881delinsCACA (n.*878_*881delinsCACA) c.678-3100_678-3097delinsCACA (n.678-3100_678-3097delinsCACA) c.*1226_*1229delinsCACA (n.*1226_*1229delinsCACA) c.*964_*967delinsCACA (n.*964_*967delinsCACA) n.977_980delinsCACA n.934_937delinsCACA c.161_164delinsCACA c.373_376delinsCACA c.1061_1064delinsCACA c.273_276delinsCACA c.879_882delinsCACA (p.Ser293=) c.63_66delinsCACA (p.Ser21=) c.12_15delinsCACA (p.Ser4=) c.987_990delinsCACA (p.Ser329=) | |
| 3 | g.37025684_37025690dup | CA2580069498 | MLH1 | c.1086_1092dup (p.Ser365HisfsTer13) c.792_798dup (p.Ser267HisfsTer13) c.932_938dup (p.Gln313HisfsTer?) c.363_369dup (p.Ser124HisfsTer13) c.*4_*10dup (n.*4_*10dup) c.*918_*924dup (n.*918_*924dup) n.894_900dup c.*197_*203dup (n.*197_*203dup) c.123_129dup (p.Ser44HisfsTer13) c.1039_1045dup n.1210_1216dup n.468_474dup c.*878_*884dup (n.*878_*884dup) c.678-3100_678-3094dup (n.678-3100_678-3094dup) c.*1226_*1232dup (n.*1226_*1232dup) c.*964_*970dup (n.*964_*970dup) n.977_983dup n.934_940dup c.161_167dup c.373_379dup c.1061_1067dup c.273_279dup c.879_885dup (p.Ser296HisfsTer13) c.63_69dup (p.Ser24HisfsTer13) c.12_18dup (p.Ser7HisfsTer13) c.987_993dup (p.Ser332HisfsTer13) | ClinVar |
| 3 | g.37025685A= | CA1357880274 | MLH1 | c.1087A= (p.Thr363=) c.793A= (p.Thr265=) c.933A= (p.Pro311=) c.364A= (p.Thr122=) c.*5A= (n.*5A=) c.*919A= (n.*919A=) n.895A= c.*198A= (n.*198A=) c.124A= (p.Thr42=) c.1040A= n.1211A= n.469A= c.*879A= (n.*879A=) c.678-3099A= (n.678-3099A=) c.*1227A= (n.*1227A=) c.*965A= (n.*965A=) n.978A= n.935A= c.162A= c.374A= c.1062A= c.274A= c.880A= (p.Thr294=) c.64A= (p.Thr22=) c.13A= (p.Thr5=) c.988A= (p.Thr330=) | |
| 3 | g.37025685A>C | CA352052113 | MLH1 | c.1087A>C (p.Thr363Pro) c.793A>C (p.Thr265Pro) c.933A>C (p.Pro311=) c.364A>C (p.Thr122Pro) c.*5A>C (n.*5A>C) c.*919A>C (n.*919A>C) n.895A>C c.*198A>C (n.*198A>C) c.124A>C (p.Thr42Pro) c.1040A>C n.1211A>C n.469A>C c.*879A>C (n.*879A>C) c.678-3099A>C (n.678-3099A>C) c.*1227A>C (n.*1227A>C) c.*965A>C (n.*965A>C) n.978A>C n.935A>C c.162A>C c.374A>C c.1062A>C c.274A>C c.880A>C (p.Thr294Pro) c.64A>C (p.Thr22Pro) c.13A>C (p.Thr5Pro) c.988A>C (p.Thr330Pro) | |
| 3 | g.37025685A>G | CA352052115 | MLH1 | c.1087A>G (p.Thr363Ala) c.793A>G (p.Thr265Ala) c.933A>G (p.Pro311=) c.364A>G (p.Thr122Ala) c.*5A>G (n.*5A>G) c.*919A>G (n.*919A>G) n.895A>G c.*198A>G (n.*198A>G) c.124A>G (p.Thr42Ala) c.1040A>G n.1211A>G n.469A>G c.*879A>G (n.*879A>G) c.678-3099A>G (n.678-3099A>G) c.*1227A>G (n.*1227A>G) c.*965A>G (n.*965A>G) n.978A>G n.935A>G c.162A>G c.374A>G c.1062A>G c.274A>G c.880A>G (p.Thr294Ala) c.64A>G (p.Thr22Ala) c.13A>G (p.Thr5Ala) c.988A>G (p.Thr330Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.37025685A>T | CA352052114 | MLH1 | c.1087A>T (p.Thr363Ser) c.793A>T (p.Thr265Ser) c.933A>T (p.Pro311=) c.364A>T (p.Thr122Ser) c.*5A>T (n.*5A>T) c.*919A>T (n.*919A>T) n.895A>T c.*198A>T (n.*198A>T) c.124A>T (p.Thr42Ser) c.1040A>T n.1211A>T n.469A>T c.*879A>T (n.*879A>T) c.678-3099A>T (n.678-3099A>T) c.*1227A>T (n.*1227A>T) c.*965A>T (n.*965A>T) n.978A>T n.935A>T c.162A>T c.374A>T c.1062A>T c.274A>T c.880A>T (p.Thr294Ser) c.64A>T (p.Thr22Ser) c.13A>T (p.Thr5Ser) c.988A>T (p.Thr330Ser) | dbSNP |