Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
12 | g.52519754G>A | CA6582828 | KRT5 | c.543C>T (p.Ser181=) c.213C>T (p.Ser71=) c.438C>T (p.Ser146=) n.641C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519754G>C | CA480070298 | KRT5 | c.543C>G (p.Ser181=) c.213C>G (p.Ser71=) c.438C>G (p.Ser146=) n.641C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52519754G= | CA2036540427 | KRT5 | c.543C= (p.Ser181=) c.213C= (p.Ser71=) c.438C= (p.Ser146=) n.641C= | |
12 | g.52519754G>T | CA480070299 | KRT5 | c.543C>A (p.Ser181=) c.213C>A (p.Ser71=) c.438C>A (p.Ser146=) n.641C>A | |
12 | g.52519755G>A | CA384928758 | KRT5 | c.542C>T (p.Ser181Phe) c.212C>T (p.Ser71Phe) c.437C>T (p.Ser146Phe) n.640C>T | COSMIC |
12 | g.52519755G>C | CA384928762 | KRT5 | c.542C>G (p.Ser181Cys) c.212C>G (p.Ser71Cys) c.437C>G (p.Ser146Cys) n.640C>G | |
12 | g.52519755G>T | CA384928760 | KRT5 | c.542C>A (p.Ser181Tyr) c.212C>A (p.Ser71Tyr) c.437C>A (p.Ser146Tyr) n.640C>A | |
12 | g.52519756A= | CA2036540428 | KRT5 | c.541T= (p.Ser181=) c.211T= (p.Ser71=) c.436T= (p.Ser146=) n.639T= | |
12 | g.52519756A>C | CA384928764 | KRT5 | c.541T>G (p.Ser181Ala) c.211T>G (p.Ser71Ala) c.436T>G (p.Ser146Ala) n.639T>G | |
12 | g.52519756A>G | CA216749 | KRT5 | c.541T>C (p.Ser181Pro) c.211T>C (p.Ser71Pro) c.436T>C (p.Ser146Pro) n.639T>C | ClinVar dbSNP |
12 | g.52519756A>T | CA384928767 | KRT5 | c.541T>A (p.Ser181Thr) c.211T>A (p.Ser71Thr) c.436T>A (p.Ser146Thr) n.639T>A | gnomAD v4 |
12 | g.52519757G>A | CA6582829 | KRT5 | c.540C>T (p.Ala180=) c.210C>T (p.Ala70=) c.435C>T (p.Ala145=) n.638C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519757G>C | CA480070300 | KRT5 | c.540C>G (p.Ala180=) c.210C>G (p.Ala70=) c.435C>G (p.Ala145=) n.638C>G | |
12 | g.52519757G= | CA2036540429 | KRT5 | c.540C= (p.Ala180=) c.210C= (p.Ala70=) c.435C= (p.Ala145=) n.638C= | |
12 | g.52519757G>T | CA6582830 | KRT5 | c.540C>A (p.Ala180=) c.210C>A (p.Ala70=) c.435C>A (p.Ala145=) n.638C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52519758G>A | CA384928772 | KRT5 | c.539C>T (p.Ala180Val) c.209C>T (p.Ala70Val) c.434C>T (p.Ala145Val) n.637C>T | |
12 | g.52519758G>C | CA384928773 | KRT5 | c.539C>G (p.Ala180Gly) c.209C>G (p.Ala70Gly) c.434C>G (p.Ala145Gly) n.637C>G | |
12 | g.52519758G= | CA2036540430 | KRT5 | c.539C= (p.Ala180=) c.209C= (p.Ala70=) c.434C= (p.Ala145=) n.637C= | |
12 | g.52519758G>T | CA216747 | KRT5 | c.539C>A (p.Ala180Asp) c.209C>A (p.Ala70Asp) c.434C>A (p.Ala145Asp) n.637C>A | ClinVar dbSNP |
12 | g.52519759C>A | CA384928777 | KRT5 | c.538G>T (p.Ala180Ser) c.208G>T (p.Ala70Ser) c.433G>T (p.Ala145Ser) n.636G>T | |
12 | g.52519759C= | CA2036540431 | KRT5 | c.538G= (p.Ala180=) c.208G= (p.Ala70=) c.433G= (p.Ala145=) n.636G= | |
12 | g.52519759C>G | CA216745 | KRT5 | c.538G>C (p.Ala180Pro) c.208G>C (p.Ala70Pro) c.433G>C (p.Ala145Pro) n.636G>C | ClinVar dbSNP |
12 | g.52519759C>T | CA384928780 | KRT5 | c.538G>A (p.Ala180Thr) c.208G>A (p.Ala70Thr) c.433G>A (p.Ala145Thr) n.636G>A | gnomAD v4 |
12 | g.52519760A>C | CA384928782 | KRT5 | c.537T>G (p.Phe179Leu) c.207T>G (p.Phe69Leu) c.432T>G (p.Phe144Leu) n.635T>G | |
12 | g.52519760A>G | CA480070301 | KRT5 | c.537T>C (p.Phe179=) c.207T>C (p.Phe69=) c.432T>C (p.Phe144=) n.635T>C | dbSNP |
12 | g.52519760A>T | CA384928785 | KRT5 | c.537T>A (p.Phe179Leu) c.207T>A (p.Phe69Leu) c.432T>A (p.Phe144Leu) n.635T>A | |
12 | g.52519761A= | CA2036540432 | KRT5 | c.536T= (p.Phe179=) c.206T= (p.Phe69=) c.431T= (p.Phe144=) n.634T= | |
12 | g.52519761A>C | CA384928786 | KRT5 | c.536T>G (p.Phe179Cys) c.206T>G (p.Phe69Cys) c.431T>G (p.Phe144Cys) n.634T>G | |
12 | g.52519761A>G | CA216744 | KRT5 | c.536T>C (p.Phe179Ser) c.206T>C (p.Phe69Ser) c.431T>C (p.Phe144Ser) n.634T>C | ClinVar dbSNP |
12 | g.52519761A>T | CA384928787 | KRT5 | c.536T>A (p.Phe179Tyr) c.206T>A (p.Phe69Tyr) c.431T>A (p.Phe144Tyr) n.634T>A | |
12 | g.52519762A>C | CA384928788 | KRT5 | c.535T>G (p.Phe179Val) c.205T>G (p.Phe69Val) c.430T>G (p.Phe144Val) n.633T>G | |
12 | g.52519762A>G | CA384928791 | KRT5 | c.535T>C (p.Phe179Leu) c.205T>C (p.Phe69Leu) c.430T>C (p.Phe144Leu) n.633T>C | |
12 | g.52519762A>T | CA384928793 | KRT5 | c.535T>A (p.Phe179Ile) c.205T>A (p.Phe69Ile) c.430T>A (p.Phe144Ile) n.633T>A | |
12 | g.52519763C>A | CA384928796 | KRT5 | c.534G>T (p.Lys178Asn) c.204G>T (p.Lys68Asn) c.429G>T (p.Lys143Asn) n.632G>T | |
12 | g.52519763C= | CA2036540434 | KRT5 | c.534G= (p.Lys178=) c.204G= (p.Lys68=) c.429G= (p.Lys143=) n.632G= | |
12 | g.52519763C>G | CA384928797 | KRT5 | c.534G>C (p.Lys178Asn) c.204G>C (p.Lys68Asn) c.429G>C (p.Lys143Asn) n.632G>C | |
12 | g.52519763C>T | CA6582831 | KRT5 | c.534G>A (p.Lys178=) c.204G>A (p.Lys68=) c.429G>A (p.Lys143=) n.632G>A | dbSNP ExAC gnomAD v2 |
12 | g.52519763_52519766delinsCTTA | CA2036540433 | KRT5 | c.531_534delinsTAAG (p.Asn177=) c.201_204delinsTAAG (p.Asn67=) c.426_429delinsTAAG (p.Asn142=) n.629_632delinsTAAG | |
12 | g.52519764T>A | CA384928800 | KRT5 | c.533A>T (p.Lys178Met) c.203A>T (p.Lys68Met) c.428A>T (p.Lys143Met) n.631A>T | |
12 | g.52519764T>C | CA384928801 | KRT5 | c.533A>G (p.Lys178Arg) c.203A>G (p.Lys68Arg) c.428A>G (p.Lys143Arg) n.631A>G | |
12 | g.52519764T>G | CA384928803 | KRT5 | c.533A>C (p.Lys178Thr) c.203A>C (p.Lys68Thr) c.428A>C (p.Lys143Thr) n.631A>C | |
12 | g.52519764_52519765del | CA2618932649 | KRT5 | c.532_533del (p.Lys178ValfsTer?) c.202_203del (p.Lys68ValfsTer?) c.427_428del (p.Lys143ValfsTer?) n.630_631del | gnomAD v4 |
12 | g.52519766_52519768del | CA216742 | KRT5 | c.531_533del (p.Asn177del) c.201_203del (p.Asn67del) c.426_428del (p.Asn142del) n.629_631del | ClinVar dbSNP |
12 | g.52519765T>A | CA384928810 | KRT5 | c.532A>T (p.Lys178Ter) c.202A>T (p.Lys68Ter) c.427A>T (p.Lys143Ter) n.630A>T | |
12 | g.52519765T>C | CA384928809 | KRT5 | c.532A>G (p.Lys178Glu) c.202A>G (p.Lys68Glu) c.427A>G (p.Lys143Glu) n.630A>G | |
12 | g.52519765T>G | CA384928807 | KRT5 | c.532A>C (p.Lys178Gln) c.202A>C (p.Lys68Gln) c.427A>C (p.Lys143Gln) n.630A>C | |
12 | g.52519766A= | CA2036540435 | KRT5 | c.531T= (p.Asn177=) c.201T= (p.Asn67=) c.426T= (p.Asn142=) n.629T= | |
12 | g.52519766A>C | CA384928811 | KRT5 | c.531T>G (p.Asn177Lys) c.201T>G (p.Asn67Lys) c.426T>G (p.Asn142Lys) n.629T>G | |
12 | g.52519766A>G | CA480070302 | KRT5 | c.531T>C (p.Asn177=) c.201T>C (p.Asn67=) c.426T>C (p.Asn142=) n.629T>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.52519766A>T | CA384928813 | KRT5 | c.531T>A (p.Asn177Lys) c.201T>A (p.Asn67Lys) c.426T>A (p.Asn142Lys) n.629T>A | |
12 | g.52519767T>A | CA384928815 | KRT5 | c.530A>T (p.Asn177Ile) c.200A>T (p.Asn67Ile) c.425A>T (p.Asn142Ile) n.628A>T | |
12 | g.52519767T>C | CA216741 | KRT5 | c.530A>G (p.Asn177Ser) c.200A>G (p.Asn67Ser) c.425A>G (p.Asn142Ser) n.628A>G | ClinVar dbSNP gnomAD v4 |
12 | g.52519767T>G | CA384928818 | KRT5 | c.530A>C (p.Asn177Thr) c.200A>C (p.Asn67Thr) c.425A>C (p.Asn142Thr) n.628A>C | |
12 | g.52519767T= | CA2036540436 | KRT5 | c.530A= (p.Asn177=) c.200A= (p.Asn67=) c.425A= (p.Asn142=) n.628A= | |
12 | g.52519768T>A | CA384928820 | KRT5 | c.529A>T (p.Asn177Tyr) c.199A>T (p.Asn67Tyr) c.424A>T (p.Asn142Tyr) n.627A>T | ClinVar dbSNP |
12 | g.52519768T>C | CA384928822 | KRT5 | c.529A>G (p.Asn177Asp) c.199A>G (p.Asn67Asp) c.424A>G (p.Asn142Asp) n.627A>G | dbSNP |
12 | g.52519768T>G | CA384928824 | KRT5 | c.529A>C (p.Asn177His) c.199A>C (p.Asn67His) c.424A>C (p.Asn142His) n.627A>C | |
12 | g.52519768T= | CA2036540437 | KRT5 | c.529A= (p.Asn177=) c.199A= (p.Asn67=) c.424A= (p.Asn142=) n.627A= | |
12 | g.52519769G>A | CA480070303 | KRT5 | c.528C>T (p.Asn176=) c.198C>T (p.Asn66=) c.423C>T (p.Asn141=) n.626C>T | gnomAD v4 |
12 | g.52519769G>C | CA384928826 | KRT5 | c.528C>G (p.Asn176Lys) c.198C>G (p.Asn66Lys) c.423C>G (p.Asn141Lys) n.626C>G | |
12 | g.52519769G>T | CA384928828 | KRT5 | c.528C>A (p.Asn176Lys) c.198C>A (p.Asn66Lys) c.423C>A (p.Asn141Lys) n.626C>A | ClinVar gnomAD v4 |
12 | g.52519770T>A | CA384928830 | KRT5 | c.527A>T (p.Asn176Ile) c.197A>T (p.Asn66Ile) c.422A>T (p.Asn141Ile) n.625A>T | |
12 | g.52519770T>C | CA216740 | KRT5 | c.527A>G (p.Asn176Ser) c.197A>G (p.Asn66Ser) c.422A>G (p.Asn141Ser) n.625A>G | ClinVar dbSNP |
12 | g.52519770T>G | CA384928833 | KRT5 | c.527A>C (p.Asn176Thr) c.197A>C (p.Asn66Thr) c.422A>C (p.Asn141Thr) n.625A>C | |
12 | g.52519770T= | CA2036540438 | KRT5 | c.527A= (p.Asn176=) c.197A= (p.Asn66=) c.422A= (p.Asn141=) n.625A= | |
12 | g.52519771T>A | CA384928839 | KRT5 | c.526A>T (p.Asn176Tyr) c.196A>T (p.Asn66Tyr) c.421A>T (p.Asn141Tyr) n.624A>T | |
12 | g.52519771T>C | CA384928836 | KRT5 | c.526A>G (p.Asn176Asp) c.196A>G (p.Asn66Asp) c.421A>G (p.Asn141Asp) n.624A>G | |
12 | g.52519771T>G | CA384928838 | KRT5 | c.526A>C (p.Asn176His) c.196A>C (p.Asn66His) c.421A>C (p.Asn141His) n.624A>C | |
12 | g.52519772G>A | CA480070304 | KRT5 | c.525C>T (p.Leu175=) c.195C>T (p.Leu65=) c.420C>T (p.Leu140=) n.623C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52519772G>C | CA480070305 | KRT5 | c.525C>G (p.Leu175=) c.195C>G (p.Leu65=) c.420C>G (p.Leu140=) n.623C>G | |
12 | g.52519772G= | CA2036540439 | KRT5 | c.525C= (p.Leu175=) c.195C= (p.Leu65=) c.420C= (p.Leu140=) n.623C= | |
12 | g.52519772G>T | CA480070306 | KRT5 | c.525C>A (p.Leu175=) c.195C>A (p.Leu65=) c.420C>A (p.Leu140=) n.623C>A | |
12 | g.52519773A>C | CA384928842 | KRT5 | c.524T>G (p.Leu175Arg) c.194T>G (p.Leu65Arg) c.419T>G (p.Leu140Arg) n.622T>G | |
12 | g.52519773A>G | CA384928844 | KRT5 | c.524T>C (p.Leu175Pro) c.194T>C (p.Leu65Pro) c.419T>C (p.Leu140Pro) n.622T>C | |
12 | g.52519773A>T | CA384928846 | KRT5 | c.524T>A (p.Leu175His) c.194T>A (p.Leu65His) c.419T>A (p.Leu140His) n.622T>A | |
12 | g.52519774G>A | CA216739 | KRT5 | c.523C>T (p.Leu175Phe) c.193C>T (p.Leu65Phe) c.418C>T (p.Leu140Phe) n.621C>T | ClinVar dbSNP |
12 | g.52519774G>C | CA384928849 | KRT5 | c.523C>G (p.Leu175Val) c.193C>G (p.Leu65Val) c.418C>G (p.Leu140Val) n.621C>G | |
12 | g.52519774G= | CA2036540440 | KRT5 | c.523C= (p.Leu175=) c.193C= (p.Leu65=) c.418C= (p.Leu140=) n.621C= | |
12 | g.52519774G>T | CA384928851 | KRT5 | c.523C>A (p.Leu175Ile) c.193C>A (p.Leu65Ile) c.418C>A (p.Leu140Ile) n.621C>A | |
12 | g.52519775G>A | CA480070307 | KRT5 | c.522C>T (p.Thr174=) c.192C>T (p.Thr64=) c.417C>T (p.Thr139=) n.620C>T | |
12 | g.52519775G>C | CA480070308 | KRT5 | c.522C>G (p.Thr174=) c.192C>G (p.Thr64=) c.417C>G (p.Thr139=) n.620C>G | |
12 | g.52519775G= | CA2036540441 | KRT5 | c.522C= (p.Thr174=) c.192C= (p.Thr64=) c.417C= (p.Thr139=) n.620C= | |
12 | g.52519775G>T | CA6582832 | KRT5 | c.522C>A (p.Thr174=) c.192C>A (p.Thr64=) c.417C>A (p.Thr139=) n.620C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52519775_52519776delinsAA | CA645584187 | KRT5 | c.521_522delinsTT (p.Thr174Ile) c.191_192delinsTT (p.Thr64Ile) c.416_417delinsTT (p.Thr139Ile) n.619_620delinsTT | COSMIC |
12 | g.52519776G>A | CA384928854 | KRT5 | c.521C>T (p.Thr174Ile) c.191C>T (p.Thr64Ile) c.416C>T (p.Thr139Ile) n.619C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519776G>C | CA384928856 | KRT5 | c.521C>G (p.Thr174Ser) c.191C>G (p.Thr64Ser) c.416C>G (p.Thr139Ser) n.619C>G | |
12 | g.52519776G= | CA2036540442 | KRT5 | c.521C= (p.Thr174=) c.191C= (p.Thr64=) c.416C= (p.Thr139=) n.619C= | |
12 | g.52519776G>T | CA384928858 | KRT5 | c.521C>A (p.Thr174Asn) c.191C>A (p.Thr64Asn) c.416C>A (p.Thr139Asn) n.619C>A | gnomAD v4 |
12 | g.52519777T>A | CA384928860 | KRT5 | c.520A>T (p.Thr174Ser) c.190A>T (p.Thr64Ser) c.415A>T (p.Thr139Ser) n.618A>T | |
12 | g.52519777T>C | CA384928862 | KRT5 | c.520A>G (p.Thr174Ala) c.190A>G (p.Thr64Ala) c.415A>G (p.Thr139Ala) n.618A>G | |
12 | g.52519777T>G | CA384928864 | KRT5 | c.520A>C (p.Thr174Pro) c.190A>C (p.Thr64Pro) c.415A>C (p.Thr139Pro) n.618A>C | |
12 | g.52519778C>A | CA384928867 | KRT5 | c.519G>T (p.Lys173Asn) c.189G>T (p.Lys63Asn) c.414G>T (p.Lys138Asn) n.617G>T | |
12 | g.52519778C= | CA2036540443 | KRT5 | c.519G= (p.Lys173=) c.189G= (p.Lys63=) c.414G= (p.Lys138=) n.617G= | |
12 | g.52519778C>G | CA216738 | KRT5 | c.519G>C (p.Lys173Asn) c.189G>C (p.Lys63Asn) c.414G>C (p.Lys138Asn) n.617G>C | ClinVar dbSNP COSMIC |
12 | g.52519778C>T | CA480070309 | KRT5 | c.519G>A (p.Lys173=) c.189G>A (p.Lys63=) c.414G>A (p.Lys138=) n.617G>A | |
12 | g.52519779T>A | CA384928869 | KRT5 | c.518A>T (p.Lys173Met) c.188A>T (p.Lys63Met) c.413A>T (p.Lys138Met) n.616A>T | |
12 | g.52519779T>C | CA384928873 | KRT5 | c.518A>G (p.Lys173Arg) c.188A>G (p.Lys63Arg) c.413A>G (p.Lys138Arg) n.616A>G | |
12 | g.52519779T>G | CA384928871 | KRT5 | c.518A>C (p.Lys173Thr) c.188A>C (p.Lys63Thr) c.413A>C (p.Lys138Thr) n.616A>C | |
12 | g.52519780del | CA2618932658 | KRT5 | c.518del (p.Lys173ArgfsTer?) c.188del (p.Lys63ArgfsTer?) c.413del (p.Lys138ArgfsTer?) n.616del | gnomAD v4 |
12 | g.52519780T>A | CA384928875 | KRT5 | c.517A>T (p.Lys173Ter) c.187A>T (p.Lys63Ter) c.412A>T (p.Lys138Ter) n.615A>T | |
12 | g.52519780T>C | CA384928877 | KRT5 | c.517A>G (p.Lys173Glu) c.187A>G (p.Lys63Glu) c.412A>G (p.Lys138Glu) n.615A>G | |
12 | g.52519780T>G | CA384928879 | KRT5 | c.517A>C (p.Lys173Gln) c.187A>C (p.Lys63Gln) c.412A>C (p.Lys138Gln) n.615A>C | |
12 | g.52519781G>A | CA480070310 | KRT5 | c.516C>T (p.Ile172=) c.186C>T (p.Ile62=) c.411C>T (p.Ile137=) n.614C>T | gnomAD v4 |
12 | g.52519781G>C | CA384928881 | KRT5 | c.516C>G (p.Ile172Met) c.186C>G (p.Ile62Met) c.411C>G (p.Ile137Met) n.614C>G | |
12 | g.52519781G>T | CA480070311 | KRT5 | c.516C>A (p.Ile172=) c.186C>A (p.Ile62=) c.411C>A (p.Ile137=) n.614C>A | |
12 | g.52519782A>C | CA384928884 | KRT5 | c.515T>G (p.Ile172Ser) c.185T>G (p.Ile62Ser) c.410T>G (p.Ile137Ser) n.613T>G | |
12 | g.52519782A>G | CA384928886 | KRT5 | c.515T>C (p.Ile172Thr) c.185T>C (p.Ile62Thr) c.410T>C (p.Ile137Thr) n.613T>C | |
12 | g.52519782A>T | CA384928888 | KRT5 | c.515T>A (p.Ile172Asn) c.185T>A (p.Ile62Asn) c.410T>A (p.Ile137Asn) n.613T>A | |
12 | g.52519783T>A | CA384928890 | KRT5 | c.514A>T (p.Ile172Phe) c.184A>T (p.Ile62Phe) c.409A>T (p.Ile137Phe) n.612A>T | |
12 | g.52519783T>C | CA216736 | KRT5 | c.514A>G (p.Ile172Val) c.184A>G (p.Ile62Val) c.409A>G (p.Ile137Val) n.612A>G | ClinVar dbSNP |
12 | g.52519783T>G | CA384928893 | KRT5 | c.514A>C (p.Ile172Leu) c.184A>C (p.Ile62Leu) c.409A>C (p.Ile137Leu) n.612A>C | |
12 | g.52519783T= | CA2036540444 | KRT5 | c.514A= (p.Ile172=) c.184A= (p.Ile62=) c.409A= (p.Ile137=) n.612A= | |
12 | g.52519784C>A | CA384928895 | KRT5 | c.513G>T (p.Gln171His) c.183G>T (p.Gln61His) c.408G>T (p.Gln136His) n.611G>T | |
12 | g.52519784C= | CA2036540445 | KRT5 | c.513G= (p.Gln171=) c.183G= (p.Gln61=) c.408G= (p.Gln136=) n.611G= | |
12 | g.52519784C>G | CA384928897 | KRT5 | c.513G>C (p.Gln171His) c.183G>C (p.Gln61His) c.408G>C (p.Gln136His) n.611G>C | |
12 | g.52519784C>T | CA216734 | KRT5 | c.513G>A (p.Gln171=) c.183G>A (p.Gln61=) c.408G>A (p.Gln136=) n.611G>A | ClinVar dbSNP gnomAD v4 |
12 | g.52519786_52519788del | CA2695216900 | KRT5 | c.511_513del (p.Gln171del) c.181_183del (p.Gln61del) c.406_408del (p.Gln136del) n.609_611del | |
12 | g.52519785T>A | CA384928900 | KRT5 | c.512A>T (p.Gln171Leu) c.182A>T (p.Gln61Leu) c.407A>T (p.Gln136Leu) n.610A>T | |
12 | g.52519785T>C | CA384928904 | KRT5 | c.512A>G (p.Gln171Arg) c.182A>G (p.Gln61Arg) c.407A>G (p.Gln136Arg) n.610A>G | |
12 | g.52519785T>G | CA384928902 | KRT5 | c.512A>C (p.Gln171Pro) c.182A>C (p.Gln61Pro) c.407A>C (p.Gln136Pro) n.610A>C | |
12 | g.52519786G>A | CA384928905 | KRT5 | c.511C>T (p.Gln171Ter) c.181C>T (p.Gln61Ter) c.406C>T (p.Gln136Ter) n.609C>T | |
12 | g.52519786G>C | CA237229058 | KRT5 | c.511C>G (p.Gln171Glu) c.181C>G (p.Gln61Glu) c.406C>G (p.Gln136Glu) n.609C>G | dbSNP gnomAD v4 |
12 | g.52519786G= | CA2036540446 | KRT5 | c.511C= (p.Gln171=) c.181C= (p.Gln61=) c.406C= (p.Gln136=) n.609C= | |
12 | g.52519786G>T | CA6582833 | KRT5 | c.511C>A (p.Gln171Lys) c.181C>A (p.Gln61Lys) c.406C>A (p.Gln136Lys) n.609C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519787C>A | CA384928908 | KRT5 | c.510G>T (p.Glu170Asp) c.180G>T (p.Glu60Asp) c.405G>T (p.Glu135Asp) n.608G>T | |
12 | g.52519787C>G | CA384928910 | KRT5 | c.510G>C (p.Glu170Asp) c.180G>C (p.Glu60Asp) c.405G>C (p.Glu135Asp) n.608G>C | |
12 | g.52519787C>T | CA480070312 | KRT5 | c.510G>A (p.Glu170=) c.180G>A (p.Glu60=) c.405G>A (p.Glu135=) n.608G>A | |
12 | g.52519788T>A | CA384928912 | KRT5 | c.509A>T (p.Glu170Val) c.179A>T (p.Glu60Val) c.404A>T (p.Glu135Val) n.607A>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52519788T>C | CA216732 | KRT5 | c.509A>G (p.Glu170Gly) c.179A>G (p.Glu60Gly) c.404A>G (p.Glu135Gly) n.607A>G | ClinVar dbSNP |
12 | g.52519788T>G | CA384928915 | KRT5 | c.509A>C (p.Glu170Ala) c.179A>C (p.Glu60Ala) c.404A>C (p.Glu135Ala) n.607A>C | |
12 | g.52519788T= | CA2036540447 | KRT5 | c.509A= (p.Glu170=) c.179A= (p.Glu60=) c.404A= (p.Glu135=) n.607A= | |
12 | g.52519789C>A | CA384928918 | KRT5 | c.508G>T (p.Glu170Ter) c.178G>T (p.Glu60Ter) c.403G>T (p.Glu135Ter) n.606G>T | ClinVar |
12 | g.52519789C= | CA2036540448 | KRT5 | c.508G= (p.Glu170=) c.178G= (p.Glu60=) c.403G= (p.Glu135=) n.606G= | |
12 | g.52519789C>G | CA384928920 | KRT5 | c.508G>C (p.Glu170Gln) c.178G>C (p.Glu60Gln) c.403G>C (p.Glu135Gln) n.606G>C | |
12 | g.52519789C>T | CA216731 | KRT5 | c.508G>A (p.Glu170Lys) c.178G>A (p.Glu60Lys) c.403G>A (p.Glu135Lys) n.606G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519790G>A | CA6582835 | KRT5 | c.507C>T (p.Arg169=) c.177C>T (p.Arg59=) c.402C>T (p.Arg134=) n.605C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519790G>C | CA480070313 | KRT5 | c.507C>G (p.Arg169=) c.177C>G (p.Arg59=) c.402C>G (p.Arg134=) n.605C>G | |
12 | g.52519790G= | CA2036540449 | KRT5 | c.507C= (p.Arg169=) c.177C= (p.Arg59=) c.402C= (p.Arg134=) n.605C= | |
12 | g.52519790G>T | CA6582834 | KRT5 | c.507C>A (p.Arg169=) c.177C>A (p.Arg59=) c.402C>A (p.Arg134=) n.605C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.52519791C>A | CA384928925 | KRT5 | c.506G>T (p.Arg169Leu) c.176G>T (p.Arg59Leu) c.401G>T (p.Arg134Leu) n.604G>T | |
12 | g.52519791C= | CA2036540450 | KRT5 | c.506G= (p.Arg169=) c.176G= (p.Arg59=) c.401G= (p.Arg134=) n.604G= | |
12 | g.52519791C>G | CA216730 | KRT5 | c.506G>C (p.Arg169Pro) c.176G>C (p.Arg59Pro) c.401G>C (p.Arg134Pro) n.604G>C | ClinVar dbSNP |
12 | g.52519791C>T | CA6582836 | KRT5 | c.506G>A (p.Arg169His) c.176G>A (p.Arg59His) c.401G>A (p.Arg134His) n.604G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519792G>A | CA384928928 | KRT5 | c.505C>T (p.Arg169Cys) c.175C>T (p.Arg59Cys) c.400C>T (p.Arg134Cys) n.603C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52519792G>C | CA384928930 | KRT5 | c.505C>G (p.Arg169Gly) c.175C>G (p.Arg59Gly) c.400C>G (p.Arg134Gly) n.603C>G | |
12 | g.52519792G= | CA2036540451 | KRT5 | c.505C= (p.Arg169=) c.175C= (p.Arg59=) c.400C= (p.Arg134=) n.603C= | |
12 | g.52519792G>T | CA6582837 | KRT5 | c.505C>A (p.Arg169Ser) c.175C>A (p.Arg59Ser) c.400C>A (p.Arg134Ser) n.603C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519793C>A | CA384928933 | KRT5 | c.504G>T (p.Glu168Asp) c.174G>T (p.Glu58Asp) c.399G>T (p.Glu133Asp) n.602G>T | |
12 | g.52519793C= | CA2036540452 | KRT5 | c.504G= (p.Glu168=) c.174G= (p.Glu58=) c.399G= (p.Glu133=) n.602G= | |
12 | g.52519793C>G | CA384928935 | KRT5 | c.504G>C (p.Glu168Asp) c.174G>C (p.Glu58Asp) c.399G>C (p.Glu133Asp) n.602G>C | ClinVar |
12 | g.52519793C>T | CA480070314 | KRT5 | c.504G>A (p.Glu168=) c.174G>A (p.Glu58=) c.399G>A (p.Glu133=) n.602G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52519794T>A | CA384928938 | KRT5 | c.503A>T (p.Glu168Val) c.173A>T (p.Glu58Val) c.398A>T (p.Glu133Val) n.601A>T | ClinVar |
12 | g.52519794T>C | CA384928940 | KRT5 | c.503A>G (p.Glu168Gly) c.173A>G (p.Glu58Gly) c.398A>G (p.Glu133Gly) n.601A>G | |
12 | g.52519794T>G | CA384928941 | KRT5 | c.503A>C (p.Glu168Ala) c.173A>C (p.Glu58Ala) c.398A>C (p.Glu133Ala) n.601A>C | |
12 | g.52519795C>A | CA384928943 | KRT5 | c.502G>T (p.Glu168Ter) c.172G>T (p.Glu58Ter) c.397G>T (p.Glu133Ter) n.600G>T | |
12 | g.52519795C= | CA2036540453 | KRT5 | c.502G= (p.Glu168=) c.172G= (p.Glu58=) c.397G= (p.Glu133=) n.600G= | |
12 | g.52519795C>G | CA384928945 | KRT5 | c.502G>C (p.Glu168Gln) c.172G>C (p.Glu58Gln) c.397G>C (p.Glu133Gln) n.600G>C | |
12 | g.52519795C>T | CA216729 | KRT5 | c.502G>A (p.Glu168Lys) c.172G>A (p.Glu58Lys) c.397G>A (p.Glu133Lys) n.600G>A | ClinVar dbSNP COSMIC |
12 | g.52519796C>A | CA384928950 | KRT5 | c.501G>T (p.Glu167Asp) c.171G>T (p.Glu57Asp) c.396G>T (p.Glu132Asp) n.599G>T | |
12 | g.52519796C>G | CA384928948 | KRT5 | c.501G>C (p.Glu167Asp) c.171G>C (p.Glu57Asp) c.396G>C (p.Glu132Asp) n.599G>C | |
12 | g.52519796C>T | CA480070315 | KRT5 | c.501G>A (p.Glu167=) c.171G>A (p.Glu57=) c.396G>A (p.Glu132=) n.599G>A | gnomAD v4 |
12 | g.52519797T>A | CA384928952 | KRT5 | c.500A>T (p.Glu167Val) c.170A>T (p.Glu57Val) c.395A>T (p.Glu132Val) n.598A>T | dbSNP |
12 | g.52519797T>C | CA384928954 | KRT5 | c.500A>G (p.Glu167Gly) c.170A>G (p.Glu57Gly) c.395A>G (p.Glu132Gly) n.598A>G | |
12 | g.52519797T>G | CA384928957 | KRT5 | c.500A>C (p.Glu167Ala) c.170A>C (p.Glu57Ala) c.395A>C (p.Glu132Ala) n.598A>C | |
12 | g.52519797T= | CA2036540454 | KRT5 | c.500A= (p.Glu167=) c.170A= (p.Glu57=) c.395A= (p.Glu132=) n.598A= | |
12 | g.52519798C>A | CA384928958 | KRT5 | c.499G>T (p.Glu167Ter) c.169G>T (p.Glu57Ter) c.394G>T (p.Glu132Ter) n.597G>T | |
12 | g.52519798C= | CA2036540455 | KRT5 | c.499G= (p.Glu167=) c.169G= (p.Glu57=) c.394G= (p.Glu132=) n.597G= | |
12 | g.52519798C>G | CA384928959 | KRT5 | c.499G>C (p.Glu167Gln) c.169G>C (p.Glu57Gln) c.394G>C (p.Glu132Gln) n.597G>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52519798C>T | CA216728 | KRT5 | c.499G>A (p.Glu167Lys) c.169G>A (p.Glu57Lys) c.394G>A (p.Glu132Lys) n.597G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519799G>A | CA480070316 | KRT5 | c.498C>T (p.Thr166=) c.168C>T (p.Thr56=) c.393C>T (p.Thr131=) n.596C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52519799G>C | CA480070317 | KRT5 | c.498C>G (p.Thr166=) c.168C>G (p.Thr56=) c.393C>G (p.Thr131=) n.596C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52519799G= | CA2036540456 | KRT5 | c.498C= (p.Thr166=) c.168C= (p.Thr56=) c.393C= (p.Thr131=) n.596C= | |
12 | g.52519799G>T | CA480070318 | KRT5 | c.498C>A (p.Thr166=) c.168C>A (p.Thr56=) c.393C>A (p.Thr131=) n.596C>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.52519800G>A | CA384928966 | KRT5 | c.497C>T (p.Thr166Ile) c.167C>T (p.Thr56Ile) c.392C>T (p.Thr131Ile) n.595C>T | |
12 | g.52519800G>C | CA384928962 | KRT5 | c.497C>G (p.Thr166Ser) c.167C>G (p.Thr56Ser) c.392C>G (p.Thr131Ser) n.595C>G | |
12 | g.52519800G>T | CA384928964 | KRT5 | c.497C>A (p.Thr166Asn) c.167C>A (p.Thr56Asn) c.392C>A (p.Thr131Asn) n.595C>A | gnomAD v4 |
12 | g.52519801T>A | CA384928968 | KRT5 | c.496A>T (p.Thr166Ser) c.166A>T (p.Thr56Ser) c.391A>T (p.Thr131Ser) n.594A>T | |
12 | g.52519801T>C | CA384928970 | KRT5 | c.496A>G (p.Thr166Ala) c.166A>G (p.Thr56Ala) c.391A>G (p.Thr131Ala) n.594A>G | gnomAD v4 |
12 | g.52519801T>G | CA384928972 | KRT5 | c.496A>C (p.Thr166Pro) c.166A>C (p.Thr56Pro) c.391A>C (p.Thr131Pro) n.594A>C | |
12 | g.52519802C>A | CA216727 | KRT5 | c.495G>T (p.Arg165Ser) c.165G>T (p.Arg55Ser) c.390G>T (p.Arg130Ser) n.593G>T | ClinVar dbSNP COSMIC |
12 | g.52519802C= | CA2036540457 | KRT5 | c.495G= (p.Arg165=) c.165G= (p.Arg55=) c.390G= (p.Arg130=) n.593G= | |
12 | g.52519802C>G | CA384928975 | KRT5 | c.495G>C (p.Arg165Ser) c.165G>C (p.Arg55Ser) c.390G>C (p.Arg130Ser) n.593G>C | ClinVar dbSNP |
12 | g.52519802C>T | CA480070319 | KRT5 | c.495G>A (p.Arg165=) c.165G>A (p.Arg55=) c.390G>A (p.Arg130=) n.593G>A | COSMIC |
12 | g.52519803C>A | CA384928977 | KRT5 | c.494G>T (p.Arg165Met) c.164G>T (p.Arg55Met) c.389G>T (p.Arg130Met) n.592G>T | |
12 | g.52519803C= | CA2036540458 | KRT5 | c.494G= (p.Arg165=) c.164G= (p.Arg55=) c.389G= (p.Arg130=) n.592G= | |
12 | g.52519803C>G | CA384928981 | KRT5 | c.494G>C (p.Arg165Thr) c.164G>C (p.Arg55Thr) c.389G>C (p.Arg130Thr) n.592G>C | |
12 | g.52519803C>T | CA384928979 | KRT5 | c.494G>A (p.Arg165Lys) c.164G>A (p.Arg55Lys) c.389G>A (p.Arg130Lys) n.592G>A | dbSNP gnomAD v4 |
12 | g.52519804T>A | CA384928983 | KRT5 | c.493A>T (p.Arg165Trp) c.163A>T (p.Arg55Trp) c.388A>T (p.Arg130Trp) n.591A>T | |
12 | g.52519804T>C | CA384928985 | KRT5 | c.493A>G (p.Arg165Gly) c.163A>G (p.Arg55Gly) c.388A>G (p.Arg130Gly) n.591A>G | |
12 | g.52519804T>G | CA480070320 | KRT5 | c.493A>C (p.Arg165=) c.163A>C (p.Arg55=) c.388A>C (p.Arg130=) n.591A>C | |
12 | g.52519805C>A | CA480070322 | KRT5 | c.492G>T (p.Val164=) c.162G>T (p.Val54=) c.387G>T (p.Val129=) n.590G>T | |
12 | g.52519805C= | CA2036540459 | KRT5 | c.492G= (p.Val164=) c.162G= (p.Val54=) c.387G= (p.Val129=) n.590G= | |
12 | g.52519805C>G | CA480070321 | KRT5 | c.492G>C (p.Val164=) c.162G>C (p.Val54=) c.387G>C (p.Val129=) n.590G>C | gnomAD v3 gnomAD v4 |
12 | g.52519805C>T | CA6582838 | KRT5 | c.492G>A (p.Val164=) c.162G>A (p.Val54=) c.387G>A (p.Val129=) n.590G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519806A>C | CA384928992 | KRT5 | c.491T>G (p.Val164Gly) c.161T>G (p.Val54Gly) c.386T>G (p.Val129Gly) n.589T>G | |
12 | g.52519806A>G | CA384928989 | KRT5 | c.491T>C (p.Val164Ala) c.161T>C (p.Val54Ala) c.386T>C (p.Val129Ala) n.589T>C | |
12 | g.52519806A>T | CA384928991 | KRT5 | c.491T>A (p.Val164Glu) c.161T>A (p.Val54Glu) c.386T>A (p.Val129Glu) n.589T>A | |
12 | g.52519807C>A | CA384928994 | KRT5 | c.490G>T (p.Val164Leu) c.160G>T (p.Val54Leu) c.385G>T (p.Val129Leu) n.588G>T | |
12 | g.52519807C>G | CA384928996 | KRT5 | c.490G>C (p.Val164Leu) c.160G>C (p.Val54Leu) c.385G>C (p.Val129Leu) n.588G>C | |
12 | g.52519807C>T | CA384928997 | KRT5 | c.490G>A (p.Val164Met) c.160G>A (p.Val54Met) c.385G>A (p.Val129Met) n.588G>A | gnomAD v4 |
12 | g.52519808C>A | CA216725 | KRT5 | c.489G>T (p.Arg163Ser) c.159G>T (p.Arg53Ser) c.384G>T (p.Arg128Ser) n.587G>T | ClinVar dbSNP |
12 | g.52519808C= | CA2036540460 | KRT5 | c.489G= (p.Arg163=) c.159G= (p.Arg53=) c.384G= (p.Arg128=) n.587G= | |
12 | g.52519808C>G | CA384929000 | KRT5 | c.489G>C (p.Arg163Ser) c.159G>C (p.Arg53Ser) c.384G>C (p.Arg128Ser) n.587G>C | |
12 | g.52519808C>T | CA480070323 | KRT5 | c.489G>A (p.Arg163=) c.159G>A (p.Arg53=) c.384G>A (p.Arg128=) n.587G>A | dbSNP |
12 | g.52519809C>A | CA384929002 | KRT5 | c.488G>T (p.Arg163Met) c.158G>T (p.Arg53Met) c.383G>T (p.Arg128Met) n.586G>T | |
12 | g.52519809C>G | CA384929004 | KRT5 | c.488G>C (p.Arg163Thr) c.158G>C (p.Arg53Thr) c.383G>C (p.Arg128Thr) n.586G>C | |
12 | g.52519809C>T | CA384929006 | KRT5 | c.488G>A (p.Arg163Lys) c.158G>A (p.Arg53Lys) c.383G>A (p.Arg128Lys) n.586G>A | gnomAD v4 |
12 | g.52519810T>A | CA384929008 | KRT5 | c.487A>T (p.Arg163Trp) c.157A>T (p.Arg53Trp) c.382A>T (p.Arg128Trp) n.585A>T | |
12 | g.52519810T>C | CA384929010 | KRT5 | c.487A>G (p.Arg163Gly) c.157A>G (p.Arg53Gly) c.382A>G (p.Arg128Gly) n.585A>G | |
12 | g.52519810T>G | CA480070324 | KRT5 | c.487A>C (p.Arg163=) c.157A>C (p.Arg53=) c.382A>C (p.Arg128=) n.585A>C | gnomAD v3 gnomAD v4 |
12 | g.52519811C>A | CA6582839 | KRT5 | c.486G>T (p.Gln162His) c.156G>T (p.Gln52His) c.381G>T (p.Gln127His) n.584G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52519811C= | CA2036540461 | KRT5 | c.486G= (p.Gln162=) c.156G= (p.Gln52=) c.381G= (p.Gln127=) n.584G= | |
12 | g.52519811C>G | CA384929012 | KRT5 | c.486G>C (p.Gln162His) c.156G>C (p.Gln52His) c.381G>C (p.Gln127His) n.584G>C | |
12 | g.52519811C>T | CA480070325 | KRT5 | c.486G>A (p.Gln162=) c.156G>A (p.Gln52=) c.381G>A (p.Gln127=) n.584G>A | |
12 | g.52519812T>A | CA384929016 | KRT5 | c.485A>T (p.Gln162Leu) c.155A>T (p.Gln52Leu) c.380A>T (p.Gln127Leu) n.583A>T | |
12 | g.52519812T>C | CA384929017 | KRT5 | c.485A>G (p.Gln162Arg) c.155A>G (p.Gln52Arg) c.380A>G (p.Gln127Arg) n.583A>G | |
12 | g.52519812T>G | CA384929019 | KRT5 | c.485A>C (p.Gln162Pro) c.155A>C (p.Gln52Pro) c.380A>C (p.Gln127Pro) n.583A>C | |
12 | g.52519813G>A | CA384929021 | KRT5 | c.484C>T (p.Gln162Ter) c.154C>T (p.Gln52Ter) c.379C>T (p.Gln127Ter) n.582C>T | COSMIC |
12 | g.52519813G>C | CA384929023 | KRT5 | c.484C>G (p.Gln162Glu) c.154C>G (p.Gln52Glu) c.379C>G (p.Gln127Glu) n.582C>G | |
12 | g.52519813G>T | CA384929025 | KRT5 | c.484C>A (p.Gln162Lys) c.154C>A (p.Gln52Lys) c.379C>A (p.Gln127Lys) n.582C>A | |
12 | g.52519814G>A | CA480070326 | KRT5 | c.483C>T (p.Ile161=) c.153C>T (p.Ile51=) c.378C>T (p.Ile126=) n.581C>T | |
12 | g.52519814G>C | CA384929027 | KRT5 | c.483C>G (p.Ile161Met) c.153C>G (p.Ile51Met) c.378C>G (p.Ile126Met) n.581C>G | |
12 | g.52519814G>T | CA480070327 | KRT5 | c.483C>A (p.Ile161=) c.153C>A (p.Ile51=) c.378C>A (p.Ile126=) n.581C>A | |
12 | g.52519817_52519828del | CA2695216901 | KRT5 | c.472_483del (p.Asp158_Ile161del) c.142_153del (p.Asp48_Ile51del) c.367_378del (p.Asp123_Ile126del) n.570_581del | |
12 | g.52519815A= | CA2036540462 | KRT5 | c.482T= (p.Ile161=) c.152T= (p.Ile51=) c.377T= (p.Ile126=) n.580T= | |
12 | g.52519815A>C | CA216724 | KRT5 | c.482T>G (p.Ile161Ser) c.152T>G (p.Ile51Ser) c.377T>G (p.Ile126Ser) n.580T>G | ClinVar dbSNP gnomAD v4 |
12 | g.52519815A>G | CA384929030 | KRT5 | c.482T>C (p.Ile161Thr) c.152T>C (p.Ile51Thr) c.377T>C (p.Ile126Thr) n.580T>C | gnomAD v4 |
12 | g.52519815A>T | CA384929032 | KRT5 | c.482T>A (p.Ile161Asn) c.152T>A (p.Ile51Asn) c.377T>A (p.Ile126Asn) n.580T>A | ClinVar dbSNP gnomAD v4 |
12 | g.52519816T>A | CA384929034 | KRT5 | c.481A>T (p.Ile161Phe) c.151A>T (p.Ile51Phe) c.376A>T (p.Ile126Phe) n.579A>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52519816T>C | CA384929035 | KRT5 | c.481A>G (p.Ile161Val) c.151A>G (p.Ile51Val) c.376A>G (p.Ile126Val) n.579A>G | |
12 | g.52519816T>G | CA384929037 | KRT5 | c.481A>C (p.Ile161Leu) c.151A>C (p.Ile51Leu) c.376A>C (p.Ile126Leu) n.579A>C | gnomAD v4 |
12 | g.52519816T= | CA2036540463 | KRT5 | c.481A= (p.Ile161=) c.151A= (p.Ile51=) c.376A= (p.Ile126=) n.579A= | |
12 | g.52519817G>A | CA480070328 | KRT5 | c.480C>T (p.Ser160=) c.150C>T (p.Ser50=) c.375C>T (p.Ser125=) n.578C>T | |
12 | g.52519817G>C | CA384929039 | KRT5 | c.480C>G (p.Ser160Arg) c.150C>G (p.Ser50Arg) c.375C>G (p.Ser125Arg) n.578C>G | |
12 | g.52519817G>T | CA384929041 | KRT5 | c.480C>A (p.Ser160Arg) c.150C>A (p.Ser50Arg) c.375C>A (p.Ser125Arg) n.578C>A | |
12 | g.52519818C>A | CA384929043 | KRT5 | c.479G>T (p.Ser160Ile) c.149G>T (p.Ser50Ile) c.374G>T (p.Ser125Ile) n.577G>T | |
12 | g.52519818C>G | CA384929045 | KRT5 | c.479G>C (p.Ser160Thr) c.149G>C (p.Ser50Thr) c.374G>C (p.Ser125Thr) n.577G>C | gnomAD v3 gnomAD v4 |
12 | g.52519818C>T | CA384929047 | KRT5 | c.479G>A (p.Ser160Asn) c.149G>A (p.Ser50Asn) c.374G>A (p.Ser125Asn) n.577G>A | |
12 | g.52519819T>A | CA384929048 | KRT5 | c.478A>T (p.Ser160Cys) c.148A>T (p.Ser50Cys) c.373A>T (p.Ser125Cys) n.576A>T | |
12 | g.52519819T>C | CA384929050 | KRT5 | c.478A>G (p.Ser160Gly) c.148A>G (p.Ser50Gly) c.373A>G (p.Ser125Gly) n.576A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52519819T>G | CA384929052 | KRT5 | c.478A>C (p.Ser160Arg) c.148A>C (p.Ser50Arg) c.373A>C (p.Ser125Arg) n.576A>C | |
12 | g.52519819T= | CA2036540464 | KRT5 | c.478A= (p.Ser160=) c.148A= (p.Ser50=) c.373A= (p.Ser125=) n.576A= | |
12 | g.52519820G>A | CA480070329 | KRT5 | c.477C>T (p.Pro159=) c.147C>T (p.Pro49=) c.372C>T (p.Pro124=) n.575C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52519820G>C | CA480070330 | KRT5 | c.477C>G (p.Pro159=) c.147C>G (p.Pro49=) c.372C>G (p.Pro124=) n.575C>G | |
12 | g.52519820G= | CA2036540465 | KRT5 | c.477C= (p.Pro159=) c.147C= (p.Pro49=) c.372C= (p.Pro124=) n.575C= | |
12 | g.52519820G>T | CA480070331 | KRT5 | c.477C>A (p.Pro159=) c.147C>A (p.Pro49=) c.372C>A (p.Pro124=) n.575C>A | |
12 | g.52519823dup | CA645584188 | KRT5 | c.477dup (p.Ser160GlnfsTer19) c.147dup (p.Ser50GlnfsTer19) c.372dup (p.Ser125GlnfsTer19) n.575dup | COSMIC |
12 | g.52519821G>A | CA384929057 | KRT5 | c.476C>T (p.Pro159Leu) c.146C>T (p.Pro49Leu) c.371C>T (p.Pro124Leu) n.574C>T | |
12 | g.52519821G>C | CA384929054 | KRT5 | c.476C>G (p.Pro159Arg) c.146C>G (p.Pro49Arg) c.371C>G (p.Pro124Arg) n.574C>G | |
12 | g.52519821G>T | CA384929056 | KRT5 | c.476C>A (p.Pro159His) c.146C>A (p.Pro49His) c.371C>A (p.Pro124His) n.574C>A | |
12 | g.52519822G>A | CA384929060 | KRT5 | c.475C>T (p.Pro159Ser) c.145C>T (p.Pro49Ser) c.370C>T (p.Pro124Ser) n.573C>T | gnomAD v4 |
12 | g.52519822G>C | CA384929061 | KRT5 | c.475C>G (p.Pro159Ala) c.145C>G (p.Pro49Ala) c.370C>G (p.Pro124Ala) n.573C>G | |
12 | g.52519822G>T | CA384929063 | KRT5 | c.475C>A (p.Pro159Thr) c.145C>A (p.Pro49Thr) c.370C>A (p.Pro124Thr) n.573C>A | |
12 | g.52519823G>A | CA480070332 | KRT5 | c.474C>T (p.Asp158=) c.144C>T (p.Asp48=) c.369C>T (p.Asp123=) n.572C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52519823G>C | CA384929065 | KRT5 | c.474C>G (p.Asp158Glu) c.144C>G (p.Asp48Glu) c.369C>G (p.Asp123Glu) n.572C>G | |
12 | g.52519823G= | CA2036540466 | KRT5 | c.474C= (p.Asp158=) c.144C= (p.Asp48=) c.369C= (p.Asp123=) n.572C= | |
12 | g.52519823G>T | CA384929067 | KRT5 | c.474C>A (p.Asp158Glu) c.144C>A (p.Asp48Glu) c.369C>A (p.Asp123Glu) n.572C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519824T>A | CA216723 | KRT5 | c.473A>T (p.Asp158Val) c.143A>T (p.Asp48Val) c.368A>T (p.Asp123Val) n.571A>T | ClinVar dbSNP |
12 | g.52519824T>C | CA384929071 | KRT5 | c.473A>G (p.Asp158Gly) c.143A>G (p.Asp48Gly) c.368A>G (p.Asp123Gly) n.571A>G | |
12 | g.52519824T>G | CA384929070 | KRT5 | c.473A>C (p.Asp158Ala) c.143A>C (p.Asp48Ala) c.368A>C (p.Asp123Ala) n.571A>C | |
12 | g.52519824T= | CA2036540467 | KRT5 | c.473A= (p.Asp158=) c.143A= (p.Asp48=) c.368A= (p.Asp123=) n.571A= | |
12 | g.52519825C>A | CA16606334 | KRT5 | c.472G>T (p.Asp158Tyr) c.142G>T (p.Asp48Tyr) c.367G>T (p.Asp123Tyr) n.570G>T | ClinVar dbSNP |
12 | g.52519825C= | CA2036540468 | KRT5 | c.472G= (p.Asp158=) c.142G= (p.Asp48=) c.367G= (p.Asp123=) n.570G= | |
12 | g.52519825C>G | CA384929074 | KRT5 | c.472G>C (p.Asp158His) c.142G>C (p.Asp48His) c.367G>C (p.Asp123His) n.570G>C | |
12 | g.52519825C>T | CA6582840 | KRT5 | c.472G>A (p.Asp158Asn) c.142G>A (p.Asp48Asn) c.367G>A (p.Asp123Asn) n.570G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.52519826G>A | CA6582841 | KRT5 | c.471C>T (p.Ile157=) c.141C>T (p.Ile47=) c.366C>T (p.Ile122=) n.569C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.52519826G>C | CA384929076 | KRT5 | c.471C>G (p.Ile157Met) c.141C>G (p.Ile47Met) c.366C>G (p.Ile122Met) n.569C>G | |
12 | g.52519826G= | CA2036540469 | KRT5 | c.471C= (p.Ile157=) c.141C= (p.Ile47=) c.366C= (p.Ile122=) n.569C= | |
12 | g.52519826G>T | CA480070333 | KRT5 | c.471C>A (p.Ile157=) c.141C>A (p.Ile47=) c.366C>A (p.Ile122=) n.569C>A | |
12 | g.52519827A= | CA2036540470 | KRT5 | c.470T= (p.Ile157=) c.140T= (p.Ile47=) c.365T= (p.Ile122=) n.568T= | |
12 | g.52519827A>C | CA384929078 | KRT5 | c.470T>G (p.Ile157Ser) c.140T>G (p.Ile47Ser) c.365T>G (p.Ile122Ser) n.568T>G | |
12 | g.52519827A>G | CA384929080 | KRT5 | c.470T>C (p.Ile157Thr) c.140T>C (p.Ile47Thr) c.365T>C (p.Ile122Thr) n.568T>C | dbSNP |
12 | g.52519827A>T | CA384929081 | KRT5 | c.470T>A (p.Ile157Asn) c.140T>A (p.Ile47Asn) c.365T>A (p.Ile122Asn) n.568T>A | |
12 | g.52519828T>A | CA384929084 | KRT5 | c.469A>T (p.Ile157Phe) c.139A>T (p.Ile47Phe) c.364A>T (p.Ile122Phe) n.567A>T | |
12 | g.52519828T>C | CA384929086 | KRT5 | c.469A>G (p.Ile157Val) c.139A>G (p.Ile47Val) c.364A>G (p.Ile122Val) n.567A>G | |
12 | g.52519828T>G | CA384929088 | KRT5 | c.469A>C (p.Ile157Leu) c.139A>C (p.Ile47Leu) c.364A>C (p.Ile122Leu) n.567A>C | |
12 | g.52519829T>A | CA384929092 | KRT5 | c.468A>T (p.Gln156His) c.138A>T (p.Gln46His) c.363A>T (p.Gln121His) n.566A>T | |
12 | g.52519829T>C | CA480070334 | KRT5 | c.468A>G (p.Gln156=) c.138A>G (p.Gln46=) c.363A>G (p.Gln121=) n.566A>G | |
12 | g.52519829T>G | CA384929090 | KRT5 | c.468A>C (p.Gln156His) c.138A>C (p.Gln46His) c.363A>C (p.Gln121His) n.566A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519829T= | CA2036540471 | KRT5 | c.468A= (p.Gln156=) c.138A= (p.Gln46=) c.363A= (p.Gln121=) n.566A= | |
12 | g.52519830T>A | CA384929095 | KRT5 | c.467A>T (p.Gln156Leu) c.137A>T (p.Gln46Leu) c.362A>T (p.Gln121Leu) n.565A>T | |
12 | g.52519830T>C | CA384929096 | KRT5 | c.467A>G (p.Gln156Arg) c.137A>G (p.Gln46Arg) c.362A>G (p.Gln121Arg) n.565A>G | gnomAD v4 |
12 | g.52519830T>G | CA384929098 | KRT5 | c.467A>C (p.Gln156Pro) c.137A>C (p.Gln46Pro) c.362A>C (p.Gln121Pro) n.565A>C | |
12 | g.52519831G>A | CA384929100 | KRT5 | c.466C>T (p.Gln156Ter) c.136C>T (p.Gln46Ter) c.361C>T (p.Gln121Ter) n.564C>T | |
12 | g.52519831G>C | CA384929101 | KRT5 | c.466C>G (p.Gln156Glu) c.136C>G (p.Gln46Glu) c.361C>G (p.Gln121Glu) n.564C>G | gnomAD v4 |
12 | g.52519831G>T | CA384929103 | KRT5 | c.466C>A (p.Gln156Lys) c.136C>A (p.Gln46Lys) c.361C>A (p.Gln121Lys) n.564C>A | |
12 | g.52519832C>A | CA480070335 | KRT5 | c.465G>T (p.Leu155=) c.135G>T (p.Leu45=) c.360G>T (p.Leu120=) n.563G>T | |
12 | g.52519832C= | CA2036540472 | KRT5 | c.465G= (p.Leu155=) c.135G= (p.Leu45=) c.360G= (p.Leu120=) n.563G= | |
12 | g.52519832C>G | CA480070336 | KRT5 | c.465G>C (p.Leu155=) c.135G>C (p.Leu45=) c.360G>C (p.Leu120=) n.563G>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52519832C>T | CA480070337 | KRT5 | c.465G>A (p.Leu155=) c.135G>A (p.Leu45=) c.360G>A (p.Leu120=) n.563G>A | ClinVar dbSNP gnomAD v4 |
12 | g.52519833A>C | CA384929108 | KRT5 | c.464T>G (p.Leu155Arg) c.134T>G (p.Leu45Arg) c.359T>G (p.Leu120Arg) n.562T>G | |
12 | g.52519833A>G | CA384929106 | KRT5 | c.464T>C (p.Leu155Pro) c.134T>C (p.Leu45Pro) c.359T>C (p.Leu120Pro) n.562T>C | |
12 | g.52519833A>T | CA384929105 | KRT5 | c.464T>A (p.Leu155Gln) c.134T>A (p.Leu45Gln) c.359T>A (p.Leu120Gln) n.562T>A | ClinVar |
12 | g.52519834G>A | CA480070338 | KRT5 | c.463C>T (p.Leu155=) c.133C>T (p.Leu45=) c.358C>T (p.Leu120=) n.561C>T | |
12 | g.52519834G>C | CA384929110 | KRT5 | c.463C>G (p.Leu155Val) c.133C>G (p.Leu45Val) c.358C>G (p.Leu120Val) n.561C>G | |
12 | g.52519834G= | CA2036540473 | KRT5 | c.463C= (p.Leu155=) c.133C= (p.Leu45=) c.358C= (p.Leu120=) n.561C= | |
12 | g.52519834G>T | CA384929111 | KRT5 | c.463C>A (p.Leu155Met) c.133C>A (p.Leu45Met) c.358C>A (p.Leu120Met) n.561C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519835G>A | CA480070339 | KRT5 | c.462C>T (p.Asn154=) c.132C>T (p.Asn44=) c.357C>T (p.Asn119=) n.560C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52519835G>C | CA384929113 | KRT5 | c.462C>G (p.Asn154Lys) c.132C>G (p.Asn44Lys) c.357C>G (p.Asn119Lys) n.560C>G | |
12 | g.52519835G= | CA2036540474 | KRT5 | c.462C= (p.Asn154=) c.132C= (p.Asn44=) c.357C= (p.Asn119=) n.560C= | |
12 | g.52519835G>T | CA384929115 | KRT5 | c.462C>A (p.Asn154Lys) c.132C>A (p.Asn44Lys) c.357C>A (p.Asn119Lys) n.560C>A | |
12 | g.52519836T>A | CA384929117 | KRT5 | c.461A>T (p.Asn154Ile) c.131A>T (p.Asn44Ile) c.356A>T (p.Asn119Ile) n.559A>T | |
12 | g.52519836T>C | CA384929119 | KRT5 | c.461A>G (p.Asn154Ser) c.131A>G (p.Asn44Ser) c.356A>G (p.Asn119Ser) n.559A>G | |
12 | g.52519836T>G | CA384929121 | KRT5 | c.461A>C (p.Asn154Thr) c.131A>C (p.Asn44Thr) c.356A>C (p.Asn119Thr) n.559A>C | |
12 | g.52519837T>A | CA384929123 | KRT5 | c.460A>T (p.Asn154Tyr) c.130A>T (p.Asn44Tyr) c.355A>T (p.Asn119Tyr) n.558A>T | |
12 | g.52519837T>C | CA384929126 | KRT5 | c.460A>G (p.Asn154Asp) c.130A>G (p.Asn44Asp) c.355A>G (p.Asn119Asp) n.558A>G | |
12 | g.52519837T>G | CA384929124 | KRT5 | c.460A>C (p.Asn154His) c.130A>C (p.Asn44His) c.355A>C (p.Asn119His) n.558A>C | |
12 | g.52519838G>A | CA480070340 | KRT5 | c.459C>T (p.Leu153=) c.129C>T (p.Leu43=) c.354C>T (p.Leu118=) n.557C>T | |
12 | g.52519838G>C | CA480070341 | KRT5 | c.459C>G (p.Leu153=) c.129C>G (p.Leu43=) c.354C>G (p.Leu118=) n.557C>G | |
12 | g.52519838G>T | CA480070342 | KRT5 | c.459C>A (p.Leu153=) c.129C>A (p.Leu43=) c.354C>A (p.Leu118=) n.557C>A | |
12 | g.52519839A= | CA2036540475 | KRT5 | c.458T= (p.Leu153=) c.128T= (p.Leu43=) c.353T= (p.Leu118=) n.556T= | |
12 | g.52519839A>C | CA384929128 | KRT5 | c.458T>G (p.Leu153Arg) c.128T>G (p.Leu43Arg) c.353T>G (p.Leu118Arg) n.556T>G | |
12 | g.52519839A>G | CA384929129 | KRT5 | c.458T>C (p.Leu153Pro) c.128T>C (p.Leu43Pro) c.353T>C (p.Leu118Pro) n.556T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52519839A>T | CA384929130 | KRT5 | c.458T>A (p.Leu153His) c.128T>A (p.Leu43His) c.353T>A (p.Leu118His) n.556T>A | |
12 | g.52519840G>A | CA384929131 | KRT5 | c.457C>T (p.Leu153Phe) c.127C>T (p.Leu43Phe) c.352C>T (p.Leu118Phe) n.555C>T | gnomAD v4 |
12 | g.52519840G>C | CA384929132 | KRT5 | c.457C>G (p.Leu153Val) c.127C>G (p.Leu43Val) c.352C>G (p.Leu118Val) n.555C>G | |
12 | g.52519840G>T | CA384929133 | KRT5 | c.457C>A (p.Leu153Ile) c.127C>A (p.Leu43Ile) c.352C>A (p.Leu118Ile) n.555C>A | |
12 | g.52519841G>A | CA480070343 | KRT5 | c.456C>T (p.Pro152=) c.126C>T (p.Pro42=) c.351C>T (p.Pro117=) n.554C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52519841G>C | CA480070344 | KRT5 | c.456C>G (p.Pro152=) c.126C>G (p.Pro42=) c.351C>G (p.Pro117=) n.554C>G | |
12 | g.52519841G= | CA2036540476 | KRT5 | c.456C= (p.Pro152=) c.126C= (p.Pro42=) c.351C= (p.Pro117=) n.554C= | |
12 | g.52519841G>T | CA480070345 | KRT5 | c.456C>A (p.Pro152=) c.126C>A (p.Pro42=) c.351C>A (p.Pro117=) n.554C>A | |
12 | g.52519842G>A | CA216722 | KRT5 | c.455C>T (p.Pro152Leu) c.125C>T (p.Pro42Leu) c.350C>T (p.Pro117Leu) n.553C>T | ClinVar dbSNP gnomAD v4 |
12 | g.52519842G>C | CA384929135 | KRT5 | c.455C>G (p.Pro152Arg) c.125C>G (p.Pro42Arg) c.350C>G (p.Pro117Arg) n.553C>G | |
12 | g.52519842G= | CA2036540477 | KRT5 | c.455C= (p.Pro152=) c.125C= (p.Pro42=) c.350C= (p.Pro117=) n.553C= | |
12 | g.52519842G>T | CA384929137 | KRT5 | c.455C>A (p.Pro152His) c.125C>A (p.Pro42His) c.350C>A (p.Pro117His) n.553C>A | |
12 | g.52519843G>A | CA384929139 | KRT5 | c.454C>T (p.Pro152Ser) c.124C>T (p.Pro42Ser) c.349C>T (p.Pro117Ser) n.552C>T | dbSNP gnomAD v4 COSMIC |
12 | g.52519843G>C | CA384929140 | KRT5 | c.454C>G (p.Pro152Ala) c.124C>G (p.Pro42Ala) c.349C>G (p.Pro117Ala) n.552C>G | |
12 | g.52519843G= | CA2036540478 | KRT5 | c.454C= (p.Pro152=) c.124C= (p.Pro42=) c.349C= (p.Pro117=) n.552C= | |
12 | g.52519843G>T | CA6582842 | KRT5 | c.454C>A (p.Pro152Thr) c.124C>A (p.Pro42Thr) c.349C>A (p.Pro117Thr) n.552C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.52519844A>C | CA480070346 | KRT5 | c.453T>G (p.Thr151=) c.123T>G (p.Thr41=) c.348T>G (p.Thr116=) n.551T>G | |
12 | g.52519844A>G | CA480070347 | KRT5 | c.453T>C (p.Thr151=) c.123T>C (p.Thr41=) c.348T>C (p.Thr116=) n.551T>C | |
12 | g.52519844A>T | CA480070348 | KRT5 | c.453T>A (p.Thr151=) c.123T>A (p.Thr41=) c.348T>A (p.Thr116=) n.551T>A | |
12 | g.52519845G>A | CA384929141 | KRT5 | c.452C>T (p.Thr151Ile) c.122C>T (p.Thr41Ile) c.347C>T (p.Thr116Ile) n.550C>T | |
12 | g.52519845G>C | CA384929143 | KRT5 | c.452C>G (p.Thr151Ser) c.122C>G (p.Thr41Ser) c.347C>G (p.Thr116Ser) n.550C>G | |
12 | g.52519845G>T | CA384929142 | KRT5 | c.452C>A (p.Thr151Asn) c.122C>A (p.Thr41Asn) c.347C>A (p.Thr116Asn) n.550C>A | |
12 | g.52519846T>A | CA384929144 | KRT5 | c.451A>T (p.Thr151Ser) c.121A>T (p.Thr41Ser) c.346A>T (p.Thr116Ser) n.549A>T | |
12 | g.52519846T>C | CA384929147 | KRT5 | c.451A>G (p.Thr151Ala) c.121A>G (p.Thr41Ala) c.346A>G (p.Thr116Ala) n.549A>G | |
12 | g.52519846T>G | CA216720 | KRT5 | c.451A>C (p.Thr151Pro) c.121A>C (p.Thr41Pro) c.346A>C (p.Thr116Pro) n.549A>C | ClinVar dbSNP |
12 | g.52519846T= | CA2036540479 | KRT5 | c.451A= (p.Thr151=) c.121A= (p.Thr41=) c.346A= (p.Thr116=) n.549A= | |
12 | g.52519847C>A | CA480070351 | KRT5 | c.450G>T (p.Leu150=) c.120G>T (p.Leu40=) c.345G>T (p.Leu115=) n.548G>T | |
12 | g.52519847C>G | CA480070350 | KRT5 | c.450G>C (p.Leu150=) c.120G>C (p.Leu40=) c.345G>C (p.Leu115=) n.548G>C | |
12 | g.52519847C>T | CA480070349 | KRT5 | c.450G>A (p.Leu150=) c.120G>A (p.Leu40=) c.345G>A (p.Leu115=) n.548G>A | |
12 | g.52519848A= | CA2036540480 | KRT5 | c.449T= (p.Leu150=) c.119T= (p.Leu40=) c.344T= (p.Leu115=) n.547T= | |
12 | g.52519848A>C | CA384929150 | KRT5 | c.449T>G (p.Leu150Arg) c.119T>G (p.Leu40Arg) c.344T>G (p.Leu115Arg) n.547T>G | |
12 | g.52519848A>G | CA216718 | KRT5 | c.449T>C (p.Leu150Pro) c.119T>C (p.Leu40Pro) c.344T>C (p.Leu115Pro) n.547T>C | ClinVar dbSNP |
12 | g.52519848A>T | CA384929152 | KRT5 | c.449T>A (p.Leu150Gln) c.119T>A (p.Leu40Gln) c.344T>A (p.Leu115Gln) n.547T>A |