| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.37008891_37008892delinsCT | CA010802 | MLH1 | c.531_532delinsCT (p.Leu177PhefsTer2) c.237_238delinsCT (p.Leu79PhefsTer2) c.-193_-192delinsCT (n.-193_-192delinsCT) c.*611_*612delinsCT (n.*611_*612delinsCT) n.546_547delinsCT c.168_169delinsCT (p.Leu56PhefsTer2) c.-179+1828_-179+1829delinsCT (n.-179+1828_-179+1829delinsCT) c.484_485delinsCT n.562_563delinsCT c.*323_*324delinsCT (n.*323_*324delinsCT) c.*671_*672delinsCT (n.*671_*672delinsCT) c.*409_*410delinsCT (n.*409_*410delinsCT) n.516_517delinsCT n.473_474delinsCT c.*404_*405delinsCT (n.*404_*405delinsCT) c.506_507delinsCT c.*310_*311delinsCT (n.*310_*311delinsCT) n.535_536delinsCT n.554_555delinsCT c.-399_-398delinsCT (n.-399_-398delinsCT) c.-296_-295delinsCT (n.-296_-295delinsCT) c.-286_-285delinsCT (n.-286_-285delinsCT) c.-282+1828_-282+1829delinsCT (n.-282+1828_-282+1829delinsCT) c.432_433delinsCT (p.Leu144PhefsTer2) | ClinVar dbSNP |
| 3 | g.37008891_37008892delinsAT | CA010794 | MLH1 | c.531_532delinsAT (p.Leu178Ter) c.237_238delinsAT (p.Leu80Ter) c.-193_-192delinsAT (n.-193_-192delinsAT) c.*611_*612delinsAT (n.*611_*612delinsAT) n.546_547delinsAT c.168_169delinsAT (p.Leu57Ter) c.-179+1828_-179+1829delinsAT (n.-179+1828_-179+1829delinsAT) c.484_485delinsAT n.562_563delinsAT c.*323_*324delinsAT (n.*323_*324delinsAT) c.*671_*672delinsAT (n.*671_*672delinsAT) c.*409_*410delinsAT (n.*409_*410delinsAT) n.516_517delinsAT n.473_474delinsAT c.*404_*405delinsAT (n.*404_*405delinsAT) c.506_507delinsAT c.*310_*311delinsAT (n.*310_*311delinsAT) n.535_536delinsAT n.554_555delinsAT c.-399_-398delinsAT (n.-399_-398delinsAT) c.-296_-295delinsAT (n.-296_-295delinsAT) c.-286_-285delinsAT (n.-286_-285delinsAT) c.-282+1828_-282+1829delinsAT (n.-282+1828_-282+1829delinsAT) c.432_433delinsAT (p.Leu145Ter) | ClinVar dbSNP |