| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.37025640_37025641del | CA1139655803 | MLH1 | c.1042_1043del (p.Leu348AlafsTer13) c.748_749del (p.Leu250AlafsTer13) c.888_889del (p.Cys297LeufsTer?) c.319_320del (p.Leu107AlafsTer13) c.71_72del (p.Phe24CysfsTer19) c.*874_*875del (n.*874_*875del) n.850_851del c.*153_*154del (n.*153_*154del) c.79_80del (p.Leu27AlafsTer13) c.995_996del n.1166_1167del n.424_425del c.*834_*835del (n.*834_*835del) c.678-3144_678-3143del (n.678-3144_678-3143del) c.*1182_*1183del (n.*1182_*1183del) c.*920_*921del (n.*920_*921del) n.933_934del n.890_891del c.117_118del c.329_330del c.1017_1018del c.229_230del c.835_836del (p.Leu279AlafsTer13) c.19_20del (p.Leu7AlafsTer13) c.-33_-32del (n.-33_-32del) c.943_944del (p.Leu315AlafsTer13) | ClinVar dbSNP |
| 3 | g.37025641del | CA16611413 | MLH1 | c.1043del (p.Leu348CysfsTer19) c.749del (p.Leu250CysfsTer19) c.889del (p.Cys297AlafsTer13) c.320del (p.Leu107CysfsTer19) c.72del (p.Phe24LeufsTer?) c.*875del (n.*875del) n.851del c.*154del (n.*154del) c.80del (p.Leu27CysfsTer19) c.996del n.1167del n.425del c.*835del (n.*835del) c.678-3143del (n.678-3143del) c.*1183del (n.*1183del) c.*921del (n.*921del) n.934del n.891del c.118del c.330del c.1018del c.230del c.836del (p.Leu279CysfsTer19) c.20del (p.Leu7CysfsTer19) c.-32del (n.-32del) c.944del (p.Leu315CysfsTer19) | ClinVar dbSNP |