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.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) | ClinVar 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=) | ClinVar 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) | ClinVar |
1 | g.209629902C= | CA2484300871 | LAMB3 | c.967G= (p.Glu323=) c.775G= (p.Glu259=) | |
1 | g.209629902C>G | CA344592886 | LAMB3 | c.967G>C (p.Glu323Gln) c.775G>C (p.Glu259Gln) | |
1 | g.209629902C>T | CA344592890 | LAMB3 | c.967G>A (p.Glu323Lys) c.775G>A (p.Glu259Lys) | dbSNP |
1 | g.209629903T>A | CA423032360 | LAMB3 | c.966A>T (p.Ser322=) c.774A>T (p.Ser258=) | |
1 | g.209629903T>C | CA423032361 | LAMB3 | c.966A>G (p.Ser322=) c.774A>G (p.Ser258=) | |
1 | g.209629903T>G | CA423032362 | LAMB3 | c.966A>C (p.Ser322=) c.774A>C (p.Ser258=) | |
1 | g.209629904G>A | CA344592895 | LAMB3 | c.965C>T (p.Ser322Leu) c.773C>T (p.Ser258Leu) | |
1 | g.209629904G>C | CA344592897 | LAMB3 | c.965C>G (p.Ser322Ter) c.773C>G (p.Ser258Ter) | |
1 | g.209629904G>T | CA344592899 | LAMB3 | c.965C>A (p.Ser322Ter) c.773C>A (p.Ser258Ter) | |
1 | g.209629905A>C | CA344592902 | LAMB3 | c.964T>G (p.Ser322Ala) c.772T>G (p.Ser258Ala) | |
1 | g.209629905A>G | CA344592905 | LAMB3 | c.964T>C (p.Ser322Pro) c.772T>C (p.Ser258Pro) | |
1 | g.209629905A>T | CA344592908 | LAMB3 | c.964T>A (p.Ser322Thr) c.772T>A (p.Ser258Thr) | |
1 | g.209629906G>A | CA423032364 | LAMB3 | c.963C>T (p.His321=) c.771C>T (p.His257=) | |
1 | g.209629906G>C | CA1375731 | LAMB3 | c.963C>G (p.His321Gln) c.771C>G (p.His257Gln) | dbSNP ExAC gnomAD v2 |
1 | g.209629906G= | CA1143775630 | LAMB3 | c.963C= (p.His321=) c.771C= (p.His257=) | |
1 | g.209629906G>T | CA344592911 | LAMB3 | c.963C>A (p.His321Gln) c.771C>A (p.His257Gln) | |
1 | g.209629907T>A | CA344592917 | LAMB3 | c.962A>T (p.His321Leu) c.770A>T (p.His257Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209629907T>C | CA344592919 | LAMB3 | c.962A>G (p.His321Arg) c.770A>G (p.His257Arg) | |
1 | g.209629907T>G | CA344592922 | LAMB3 | c.962A>C (p.His321Pro) c.770A>C (p.His257Pro) | |
1 | g.209629907T= | CA2484300872 | LAMB3 | c.962A= (p.His321=) c.770A= (p.His257=) | |
1 | g.209629908G>A | CA344592926 | LAMB3 | c.961C>T (p.His321Tyr) c.769C>T (p.His257Tyr) | |
1 | g.209629908G>C | CA344592928 | LAMB3 | c.961C>G (p.His321Asp) c.769C>G (p.His257Asp) | |
1 | g.209629908G>T | CA344592930 | LAMB3 | c.961C>A (p.His321Asn) c.769C>A (p.His257Asn) | |
1 | g.209629909C>A | CA423032365 | LAMB3 | c.960G>T (p.Gly320=) c.768G>T (p.Gly256=) |