| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.37040291_37040292insAAGT | CA006263 | MLH1 | c.1664_1665insAAGT (p.Arg556SerfsTer2) c.1370_1371insAAGT (p.Glu459Ter) c.1559-10195_1559-10194insAAGT (n.1559-10195_1559-10194insAAGT) c.1664_1665insAAGT (p.Glu557Ter) c.941_942insAAGT (p.Glu316Ter) c.*582_*583insAAGT (n.*582_*583insAAGT) c.*1496_*1497insAAGT (n.*1496_*1497insAAGT) c.941_942insAAGT (p.Arg315SerfsTer2) c.*775_*776insAAGT (n.*775_*776insAAGT) c.701_702insAAGT (p.Glu236Ter) c.1617_1618insAAGT n.1046_1047insAAGT c.*1456_*1457insAAGT (n.*1456_*1457insAAGT) c.932_933insAAGT (p.Glu313Ter) c.*1804_*1805insAAGT (n.*1804_*1805insAAGT) c.*1542_*1543insAAGT (n.*1542_*1543insAAGT) n.1555_1556insAAGT n.375_376insAAGT c.287_288insAAGT (p.Arg97SerfsTer2) c.182-10195_182-10194insAAGT (n.182-10195_182-10194insAAGT) c.1639_1640insAAGT c.432_433insAAGT c.1457_1458insAAGT (p.Glu488Ter) c.641_642insAAGT (p.Glu216Ter) c.590_591insAAGT (p.Glu199Ter) c.1565_1566insAAGT (p.Glu524Ter) | ClinVar dbSNP |
| 3 | g.37040291T= | CA1357887342 | MLH1 | c.1664T= (p.Leu555=) c.1370T= (p.Leu457=) c.1559-10195T= (n.1559-10195T=) c.941T= (p.Leu314=) c.*582T= (n.*582T=) c.*1496T= (n.*1496T=) c.*775T= (n.*775T=) c.701T= (p.Leu234=) c.1617T= n.1046T= c.*1456T= (n.*1456T=) c.932T= (p.Leu311=) c.*1804T= (n.*1804T=) c.*1542T= (n.*1542T=) n.1555T= n.375T= c.287T= (p.Leu96=) c.182-10195T= (n.182-10195T=) c.1639T= c.432T= c.1457T= (p.Leu486=) c.641T= (p.Leu214=) c.590T= (p.Leu197=) c.1565T= (p.Leu522=) | dbSNP dbSNP |