| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.37028787_37028790del | CA005323 | MLH1 | c.1413_1416del (p.Lys471AsnfsTer19) c.1119_1122del (p.Lys373AsnfsTer19) c.*314_*317del (n.*314_*317del) c.690_693del (p.Lys230AsnfsTer19) c.*331_*334del (n.*331_*334del) c.*1245_*1248del (n.*1245_*1248del) c.*524_*527del (n.*524_*527del) c.450_453del (p.Lys150AsnfsTer19) c.1366_1369del n.795_798del c.*1205_*1208del (n.*1205_*1208del) c.681_684del (p.Lys227AsnfsTer19) c.*1553_*1556del (n.*1553_*1556del) c.*1291_*1294del (n.*1291_*1294del) n.1304_1307del n.1261_1264del n.124_127del c.488_491del c.36_39del (p.Lys12AsnfsTer19) c.1388_1391del c.600_603del c.181_184del c.1206_1209del (p.Lys402AsnfsTer19) c.390_393del (p.Lys130AsnfsTer19) c.339_342del (p.Lys113AsnfsTer19) c.1314_1317del (p.Lys438AsnfsTer19) | ClinVar dbSNP |
| 3 | g.37028789_37028790del | CA005354 | MLH1 | c.1415_1416del (p.Arg472ThrfsTer6) c.1121_1122del (p.Arg374ThrfsTer6) c.*316_*317del (n.*316_*317del) c.692_693del (p.Arg231ThrfsTer6) c.*333_*334del (n.*333_*334del) c.*1247_*1248del (n.*1247_*1248del) c.*526_*527del (n.*526_*527del) c.452_453del (p.Arg151ThrfsTer6) c.1368_1369del n.797_798del c.*1207_*1208del (n.*1207_*1208del) c.683_684del (p.Arg228ThrfsTer6) c.*1555_*1556del (n.*1555_*1556del) c.*1293_*1294del (n.*1293_*1294del) n.1306_1307del n.1263_1264del n.126_127del c.490_491del c.38_39del (p.Arg13ThrfsTer6) c.1390_1391del c.602_603del c.183_184del c.1208_1209del (p.Arg403ThrfsTer6) c.392_393del (p.Arg131ThrfsTer6) c.341_342del (p.Arg114ThrfsTer6) c.1316_1317del (p.Arg439ThrfsTer6) | ClinVar dbSNP |