| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.52519741C>A | CA384928695 | KRT5 | c.555+1G>T (n.555+1G>T) c.225+1G>T (n.225+1G>T) n.653+1G>T | |
| 12 | g.52519741C= | CA2036540420 | KRT5 | c.555+1G= (n.555+1G=) c.225+1G= (n.225+1G=) n.653+1G= | |
| 12 | g.52519741C>G | CA384928697 | KRT5 | c.555+1G>C (n.555+1G>C) c.225+1G>C (n.225+1G>C) n.653+1G>C | |
| 12 | g.52519741C>T | CA10588554 | KRT5 | c.555+1G>A (n.555+1G>A) c.225+1G>A (n.225+1G>A) n.653+1G>A | ClinVar dbSNP |
| 12 | g.52519741_52519742delinsTT | CA645584186 | KRT5 | c.555_555+1delinsAA c.225_225+1delinsAA n.653_653+1delinsAA | COSMIC |
| 12 | g.52519742C>A | CA384928700 | KRT5 | c.555G>T (p.Lys185Asn) c.225G>T (p.Lys75Asn) n.653G>T | |
| 12 | g.52519742C>G | CA384928702 | KRT5 | c.555G>C (p.Lys185Asn) c.225G>C (p.Lys75Asn) n.653G>C | |
| 12 | g.52519742C>T | CA480070294 | KRT5 | c.555G>A (p.Lys185=) c.225G>A (p.Lys75=) n.653G>A | |
| 12 | g.52519742_52519745del | CA2695216899 | KRT5 | c.552_555del (p.Asp184GlufsTer27) c.222_225del (p.Asp74GlufsTer27) n.650_653del | |
| 12 | g.52519743T>A | CA384928705 | KRT5 | c.554A>T (p.Lys185Met) c.224A>T (p.Lys75Met) n.652A>T | |
| 12 | g.52519743T>C | CA384928706 | KRT5 | c.554A>G (p.Lys185Arg) c.224A>G (p.Lys75Arg) n.652A>G | gnomAD v4 |
| 12 | g.52519743T>G | CA384928708 | KRT5 | c.554A>C (p.Lys185Thr) c.224A>C (p.Lys75Thr) n.652A>C | |
| 12 | g.52519744T>A | CA384928711 | KRT5 | c.553A>T (p.Lys185Ter) c.223A>T (p.Lys75Ter) n.651A>T | |
| 12 | g.52519744T>C | CA384928712 | KRT5 | c.553A>G (p.Lys185Glu) c.223A>G (p.Lys75Glu) n.651A>G | gnomAD v4 |
| 12 | g.52519744T>G | CA384928714 | KRT5 | c.553A>C (p.Lys185Gln) c.223A>C (p.Lys75Gln) n.651A>C | |
| 12 | g.52519745G>A | CA480070295 | KRT5 | c.552C>T (p.Asp184=) c.222C>T (p.Asp74=) n.650C>T | |
| 12 | g.52519745G>C | CA384928718 | KRT5 | c.552C>G (p.Asp184Glu) c.222C>G (p.Asp74Glu) n.650C>G | |
| 12 | g.52519745G>T | CA384928717 | KRT5 | c.552C>A (p.Asp184Glu) c.222C>A (p.Asp74Glu) n.650C>A | gnomAD v4 |
| 12 | g.52519746T>A | CA384928720 | KRT5 | c.551A>T (p.Asp184Val) c.221A>T (p.Asp74Val) n.649A>T | COSMIC |
| 12 | g.52519746T>C | CA384928722 | KRT5 | c.551A>G (p.Asp184Gly) c.221A>G (p.Asp74Gly) n.649A>G | |
| 12 | g.52519746T>G | CA384928724 | KRT5 | c.551A>C (p.Asp184Ala) c.221A>C (p.Asp74Ala) n.649A>C | gnomAD v4 |
| 12 | g.52519747C>A | CA384928726 | KRT5 | c.550G>T (p.Asp184Tyr) c.220G>T (p.Asp74Tyr) n.648G>T | gnomAD v4 |
| 12 | g.52519747C= | CA2036540422 | KRT5 | c.550G= (p.Asp184=) c.220G= (p.Asp74=) n.648G= | |
| 12 | g.52519747C>G | CA384928728 | KRT5 | c.550G>C (p.Asp184His) c.220G>C (p.Asp74His) n.648G>C | |
| 12 | g.52519747C>T | CA6582826 | KRT5 | c.550G>A (p.Asp184Asn) c.220G>A (p.Asp74Asn) n.648G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.52519747_52519750delinsCGAT | CA2036540421 | KRT5 | c.547_550delinsATCG (p.Ile183=) c.217_220delinsATCG (p.Ile73=) n.645_648delinsATCG | |
| 12 | g.52519748G>A | CA6582827 | KRT5 | c.549C>T (p.Ile183=) c.219C>T (p.Ile73=) n.647C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.52519748G>C | CA216758 | KRT5 | c.549C>G (p.Ile183Met) c.219C>G (p.Ile73Met) n.647C>G | ClinVar dbSNP |
| 12 | g.52519748G= | CA2036540423 | KRT5 | c.549C= (p.Ile183=) c.219C= (p.Ile73=) n.647C= | |
| 12 | g.52519748G>T | CA480070296 | KRT5 | c.549C>A (p.Ile183=) c.219C>A (p.Ile73=) n.647C>A | |
| 12 | g.52519750_52519752del | CA216754 | KRT5 | c.547_549del (p.Ile183del) c.217_219del (p.Ile73del) n.645_647del | ClinVar dbSNP |
| 12 | g.52519749A= | CA2036540424 | KRT5 | c.548T= (p.Ile183=) c.218T= (p.Ile73=) n.646T= | |
| 12 | g.52519749A>C | CA384928734 | KRT5 | c.548T>G (p.Ile183Ser) c.218T>G (p.Ile73Ser) n.646T>G | ClinVar dbSNP |
| 12 | g.52519749A>G | CA216756 | KRT5 | c.548T>C (p.Ile183Thr) c.218T>C (p.Ile73Thr) n.646T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.52519749A>T | CA384928736 | KRT5 | c.548T>A (p.Ile183Asn) c.218T>A (p.Ile73Asn) n.646T>A | |
| 12 | g.52519750T>A | CA216752 | KRT5 | c.547A>T (p.Ile183Phe) c.217A>T (p.Ile73Phe) n.645A>T | ClinVar dbSNP |
| 12 | g.52519750T>C | CA216750 | KRT5 | c.547A>G (p.Ile183Val) c.217A>G (p.Ile73Val) n.645A>G | ClinVar dbSNP |
| 12 | g.52519750T>G | CA384928740 | KRT5 | c.547A>C (p.Ile183Leu) c.217A>C (p.Ile73Leu) n.645A>C | |
| 12 | g.52519750T= | CA2036540425 | KRT5 | c.547A= (p.Ile183=) c.217A= (p.Ile73=) n.645A= | |
| 12 | g.52519751G>A | CA480070297 | KRT5 | c.546C>T (p.Phe182=) c.216C>T (p.Phe72=) c.441C>T (p.Phe147=) n.644C>T | |
| 12 | g.52519751G>C | CA384928741 | KRT5 | c.546C>G (p.Phe182Leu) c.216C>G (p.Phe72Leu) c.441C>G (p.Phe147Leu) n.644C>G | |
| 12 | g.52519751G>T | CA384928743 | KRT5 | c.546C>A (p.Phe182Leu) c.216C>A (p.Phe72Leu) c.441C>A (p.Phe147Leu) n.644C>A | |
| 12 | g.52519752A>C | CA384928745 | KRT5 | c.545T>G (p.Phe182Cys) c.215T>G (p.Phe72Cys) c.440T>G (p.Phe147Cys) n.643T>G | |
| 12 | g.52519752A>G | CA384928747 | KRT5 | c.545T>C (p.Phe182Ser) c.215T>C (p.Phe72Ser) c.440T>C (p.Phe147Ser) n.643T>C | |
| 12 | g.52519752A>T | CA384928749 | KRT5 | c.545T>A (p.Phe182Tyr) c.215T>A (p.Phe72Tyr) c.440T>A (p.Phe147Tyr) n.643T>A | |
| 12 | g.52519753A= | CA2036540426 | KRT5 | c.544T= (p.Phe182=) c.214T= (p.Phe72=) c.439T= (p.Phe147=) n.642T= | |
| 12 | g.52519753A>C | CA384928753 | KRT5 | c.544T>G (p.Phe182Val) c.214T>G (p.Phe72Val) c.439T>G (p.Phe147Val) n.642T>G | |
| 12 | g.52519753A>G | CA384928755 | KRT5 | c.544T>C (p.Phe182Leu) c.214T>C (p.Phe72Leu) c.439T>C (p.Phe147Leu) n.642T>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.52519753A>T | CA384928751 | KRT5 | c.544T>A (p.Phe182Ile) c.214T>A (p.Phe72Ile) c.439T>A (p.Phe147Ile) n.642T>A | |
| 12 | g.52519756_52519758del | CA2580615206 | KRT5 | c.542_544del (p.Ser181del) c.212_214del (p.Ser71del) c.437_439del (p.Ser146del) n.640_642del | ClinVar |