| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209629835_209629911dup | CA10602754 | LAMB3 | c.958_1034dup (p.Asn345LysfsTer?) c.766_842dup (p.Asn281LysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629890_209629891delinsAG | CA2484300865 | LAMB3 | c.978_979delinsCT (p.His326=) c.786_787delinsCT (p.His262=) | |
| 1 | g.209629891del | CA1375727 | LAMB3 | c.978del (p.Phe327LeufsTer?) c.786del (p.Phe263LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629891G>A | CA1375728 | LAMB3 | c.978C>T (p.His326=) c.786C>T (p.His262=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629891G>C | CA344592805 | LAMB3 | c.978C>G (p.His326Gln) c.786C>G (p.His262Gln) | gnomAD v4 |
| 1 | g.209629891G= | CA1142056791 | LAMB3 | c.978C= (p.His326=) c.786C= (p.His262=) | |
| 1 | g.209629891G>T | CA344592807 | LAMB3 | c.978C>A (p.His326Gln) c.786C>A (p.His262Gln) | |
| 1 | g.209629891_209629892delinsGT | CA2484300866 | LAMB3 | c.977_978delinsAC (p.His326=) c.785_786delinsAC (p.His262=) | |
| 1 | g.209629892_209629893del | CA913072635 | LAMB3 | c.977_978del (p.His326LeufsTer2) c.785_786del (p.His262LeufsTer2) | |
| 1 | g.209629892del | CA1375729 | LAMB3 | c.977del (p.His326ProfsTer?) c.785del (p.His262ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629892T>A | CA344592812 | LAMB3 | c.977A>T (p.His326Leu) c.785A>T (p.His262Leu) | |
| 1 | g.209629892T>C | CA344592814 | LAMB3 | c.977A>G (p.His326Arg) c.785A>G (p.His262Arg) | |
| 1 | g.209629892T>G | CA344592817 | LAMB3 | c.977A>C (p.His326Pro) c.785A>C (p.His262Pro) | |
| 1 | g.209629893del | CA2586964577 | LAMB3 | c.976del (p.His326ThrfsTer?) c.784del (p.His262ThrfsTer?) | |
| 1 | g.209629893G>A | CA344592827 | LAMB3 | c.976C>T (p.His326Tyr) c.784C>T (p.His262Tyr) | |
| 1 | g.209629893G>C | CA344592824 | LAMB3 | c.976C>G (p.His326Asp) c.784C>G (p.His262Asp) | |
| 1 | g.209629893G>T | CA344592822 | LAMB3 | c.976C>A (p.His326Asn) c.784C>A (p.His262Asn) | |
| 1 | g.209629894A= | CA2484300867 | LAMB3 | c.975T= (p.Cys325=) c.783T= (p.Cys261=) | |
| 1 | g.209629894A>C | CA344592830 | LAMB3 | c.975T>G (p.Cys325Trp) c.783T>G (p.Cys261Trp) | |
| 1 | g.209629894A>G | CA423032355 | LAMB3 | c.975T>C (p.Cys325=) c.783T>C (p.Cys261=) | COSMIC |
| 1 | g.209629894A>T | CA344592836 | LAMB3 | c.975T>A (p.Cys325Ter) c.783T>A (p.Cys261Ter) | ClinVar dbSNP |
| 1 | g.209629895C>A | CA344592839 | LAMB3 | c.974G>T (p.Cys325Phe) c.782G>T (p.Cys261Phe) | |
| 1 | g.209629895C>G | CA344592841 | LAMB3 | c.974G>C (p.Cys325Ser) c.782G>C (p.Cys261Ser) | |
| 1 | g.209629895C>T | CA344592844 | LAMB3 | c.974G>A (p.Cys325Tyr) c.782G>A (p.Cys261Tyr) | |
| 1 | g.209629896A= | CA2484300868 | LAMB3 | c.973T= (p.Cys325=) c.781T= (p.Cys261=) | |
| 1 | g.209629896A>C | CA344592846 | LAMB3 | c.973T>G (p.Cys325Gly) c.781T>G (p.Cys261Gly) | |
| 1 | g.209629896A>G | CA344592849 | LAMB3 | c.973T>C (p.Cys325Arg) c.781T>C (p.Cys261Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629896A>T | CA344592851 | LAMB3 | c.973T>A (p.Cys325Ser) c.781T>A (p.Cys261Ser) | gnomAD v4 |
| 1 | g.209629896_209629897del | CA2586964580 | LAMB3 | c.972_973del (p.Cys325SerfsTer3) c.780_781del (p.Cys261SerfsTer3) | |
| 1 | g.209629897del | CA2586964582 | LAMB3 | c.972del (p.Cys325ValfsTer?) c.780del (p.Cys261ValfsTer?) | |
| 1 | g.209629897T>A | CA423032356 | LAMB3 | c.972A>T (p.Thr324=) c.780A>T (p.Thr260=) | |
| 1 | g.209629897T>C | CA423032357 | LAMB3 | c.972A>G (p.Thr324=) c.780A>G (p.Thr260=) | gnomAD v4 |
| 1 | g.209629897T>G | CA423032358 | LAMB3 | c.972A>C (p.Thr324=) c.780A>C (p.Thr260=) | |
| 1 | g.209629898G>A | CA1375730 | LAMB3 | c.971C>T (p.Thr324Ile) c.779C>T (p.Thr260Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629898G>C | CA344592855 | LAMB3 | c.971C>G (p.Thr324Arg) c.779C>G (p.Thr260Arg) | |
| 1 | g.209629898G= | CA2484300869 | LAMB3 | c.971C= (p.Thr324=) c.779C= (p.Thr260=) | |
| 1 | g.209629898G>T | CA344592858 | LAMB3 | c.971C>A (p.Thr324Lys) c.779C>A (p.Thr260Lys) | |
| 1 | g.209629899T>A | CA344592866 | LAMB3 | c.970A>T (p.Thr324Ser) c.778A>T (p.Thr260Ser) | |
| 1 | g.209629899T>C | CA10609588 | LAMB3 | c.970A>G (p.Thr324Ala) c.778A>G (p.Thr260Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629899T>G | CA344592862 | LAMB3 | c.970A>C (p.Thr324Pro) c.778A>C (p.Thr260Pro) | |
| 1 | g.209629899T= | CA2484300870 | LAMB3 | c.970A= (p.Thr324=) c.778A= (p.Thr260=) | |
| 1 | g.209629900C>A | CA344592868 | LAMB3 | c.969G>T (p.Glu323Asp) c.777G>T (p.Glu259Asp) | COSMIC |
| 1 | g.209629900C>G | CA344592874 | LAMB3 | c.969G>C (p.Glu323Asp) c.777G>C (p.Glu259Asp) | |
| 1 | g.209629900C>T | CA423032359 | LAMB3 | c.969G>A (p.Glu323=) c.777G>A (p.Glu259=) | |
| 1 | g.209629901T>A | CA344592877 | LAMB3 | c.968A>T (p.Glu323Val) c.776A>T (p.Glu259Val) | |
| 1 | g.209629901T>C | CA36758522 | LAMB3 | c.968A>G (p.Glu323Gly) c.776A>G (p.Glu259Gly) | dbSNP |
| 1 | g.209629901T>G | CA36758525 | LAMB3 | c.968A>C (p.Glu323Ala) c.776A>C (p.Glu259Ala) | dbSNP |
| 1 | g.209629901T= | CA1142748942 | LAMB3 | c.968A= (p.Glu323=) c.776A= (p.Glu259=) | |
| 1 | g.209629902C>A | CA344592884 | LAMB3 | c.967G>T (p.Glu323Ter) c.775G>T (p.Glu259Ter) | |
| 1 | g.209629902C= | CA2484300871 | LAMB3 | c.967G= (p.Glu323=) c.775G= (p.Glu259=) |