| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.37028865dup | CA658821727 | MLH1 | c.1491dup (p.Arg498GlufsTer5) c.1197dup (p.Arg400GlufsTer5) c.768dup (p.Arg257GlufsTer5) c.*409dup (n.*409dup) c.*1323dup (n.*1323dup) c.*602dup (n.*602dup) c.528dup (p.Arg177GlufsTer5) c.1444dup n.873dup c.*1283dup (n.*1283dup) c.759dup (p.Arg254GlufsTer5) c.*1631dup (n.*1631dup) c.*1369dup (n.*1369dup) n.1382dup n.1339dup n.202dup c.566dup c.114dup (p.Arg39GlufsTer5) c.1466dup c.259dup c.1284dup (p.Arg429GlufsTer5) c.468dup (p.Arg157GlufsTer5) c.417dup (p.Arg140GlufsTer5) c.1392dup (p.Arg465GlufsTer5) | ClinVar dbSNP |
| 3 | g.37028865del | CA005582 | MLH1 | c.1491del (p.Arg498GlufsTer10) c.1197del (p.Arg400GlufsTer10) c.768del (p.Arg257GlufsTer10) c.*409del (n.*409del) c.*1323del (n.*1323del) c.*602del (n.*602del) c.528del (p.Arg177GlufsTer10) c.1444del n.873del c.*1283del (n.*1283del) c.759del (p.Arg254GlufsTer10) c.*1631del (n.*1631del) c.*1369del (n.*1369del) n.1382del n.1339del n.202del c.566del c.114del (p.Arg39GlufsTer10) c.1466del c.259del c.1284del (p.Arg429GlufsTer10) c.468del (p.Arg157GlufsTer10) c.417del (p.Arg140GlufsTer10) c.1392del (p.Arg465GlufsTer10) | ClinVar dbSNP COSMIC |