Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52519741C>ACA384928695KRT5c.555+1G>T (n.555+1G>T)
c.225+1G>T (n.225+1G>T)
n.653+1G>T
12g.52519741C=CA2036540420KRT5c.555+1G= (n.555+1G=)
c.225+1G= (n.225+1G=)
n.653+1G=
12g.52519741C>GCA384928697KRT5c.555+1G>C (n.555+1G>C)
c.225+1G>C (n.225+1G>C)
n.653+1G>C
12g.52519741C>TCA10588554KRT5c.555+1G>A (n.555+1G>A)
c.225+1G>A (n.225+1G>A)
n.653+1G>A
 ClinVar dbSNP
12g.52519741_52519742delinsTTCA645584186KRT5c.555_555+1delinsAA
c.225_225+1delinsAA
n.653_653+1delinsAA
 COSMIC
12g.52519742C>ACA384928700KRT5c.555G>T (p.Lys185Asn)
c.225G>T (p.Lys75Asn)
n.653G>T
12g.52519742C>GCA384928702KRT5c.555G>C (p.Lys185Asn)
c.225G>C (p.Lys75Asn)
n.653G>C
12g.52519742C>TCA480070294KRT5c.555G>A (p.Lys185=)
c.225G>A (p.Lys75=)
n.653G>A
12g.52519742_52519745delCA2695216899KRT5c.552_555del (p.Asp184GlufsTer27)
c.222_225del (p.Asp74GlufsTer27)
n.650_653del
12g.52519743T>ACA384928705KRT5c.554A>T (p.Lys185Met)
c.224A>T (p.Lys75Met)
n.652A>T
12g.52519743T>CCA384928706KRT5c.554A>G (p.Lys185Arg)
c.224A>G (p.Lys75Arg)
n.652A>G
 gnomAD v4
12g.52519743T>GCA384928708KRT5c.554A>C (p.Lys185Thr)
c.224A>C (p.Lys75Thr)
n.652A>C
12g.52519744T>ACA384928711KRT5c.553A>T (p.Lys185Ter)
c.223A>T (p.Lys75Ter)
n.651A>T
12g.52519744T>CCA384928712KRT5c.553A>G (p.Lys185Glu)
c.223A>G (p.Lys75Glu)
n.651A>G
 gnomAD v4
12g.52519744T>GCA384928714KRT5c.553A>C (p.Lys185Gln)
c.223A>C (p.Lys75Gln)
n.651A>C
12g.52519745G>ACA480070295KRT5c.552C>T (p.Asp184=)
c.222C>T (p.Asp74=)
n.650C>T
12g.52519745G>CCA384928718KRT5c.552C>G (p.Asp184Glu)
c.222C>G (p.Asp74Glu)
n.650C>G
12g.52519745G>TCA384928717KRT5c.552C>A (p.Asp184Glu)
c.222C>A (p.Asp74Glu)
n.650C>A
 gnomAD v4
12g.52519746T>ACA384928720KRT5c.551A>T (p.Asp184Val)
c.221A>T (p.Asp74Val)
n.649A>T
 COSMIC
12g.52519746T>CCA384928722KRT5c.551A>G (p.Asp184Gly)
c.221A>G (p.Asp74Gly)
n.649A>G
12g.52519746T>GCA384928724KRT5c.551A>C (p.Asp184Ala)
c.221A>C (p.Asp74Ala)
n.649A>C
 gnomAD v4
12g.52519747C>ACA384928726KRT5c.550G>T (p.Asp184Tyr)
c.220G>T (p.Asp74Tyr)
n.648G>T
 gnomAD v4
12g.52519747C=CA2036540422KRT5c.550G= (p.Asp184=)
c.220G= (p.Asp74=)
n.648G=
12g.52519747C>GCA384928728KRT5c.550G>C (p.Asp184His)
c.220G>C (p.Asp74His)
n.648G>C
12g.52519747C>TCA6582826KRT5c.550G>A (p.Asp184Asn)
c.220G>A (p.Asp74Asn)
n.648G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519747_52519750delinsCGATCA2036540421KRT5c.547_550delinsATCG (p.Ile183=)
c.217_220delinsATCG (p.Ile73=)
n.645_648delinsATCG
12g.52519748G>ACA6582827KRT5c.549C>T (p.Ile183=)
c.219C>T (p.Ile73=)
n.647C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.52519748G>CCA216758KRT5c.549C>G (p.Ile183Met)
c.219C>G (p.Ile73Met)
n.647C>G
 ClinVar dbSNP
12g.52519748G=CA2036540423KRT5c.549C= (p.Ile183=)
c.219C= (p.Ile73=)
n.647C=
12g.52519748G>TCA480070296KRT5c.549C>A (p.Ile183=)
c.219C>A (p.Ile73=)
n.647C>A
12g.52519750_52519752delCA216754KRT5c.547_549del (p.Ile183del)
c.217_219del (p.Ile73del)
n.645_647del
 ClinVar dbSNP
12g.52519749A=CA2036540424KRT5c.548T= (p.Ile183=)
c.218T= (p.Ile73=)
n.646T=
12g.52519749A>CCA384928734KRT5c.548T>G (p.Ile183Ser)
c.218T>G (p.Ile73Ser)
n.646T>G
 ClinVar dbSNP
12g.52519749A>GCA216756KRT5c.548T>C (p.Ile183Thr)
c.218T>C (p.Ile73Thr)
n.646T>C
 ClinVar dbSNP gnomAD v4
12g.52519749A>TCA384928736KRT5c.548T>A (p.Ile183Asn)
c.218T>A (p.Ile73Asn)
n.646T>A
12g.52519750T>ACA216752KRT5c.547A>T (p.Ile183Phe)
c.217A>T (p.Ile73Phe)
n.645A>T
 ClinVar dbSNP
12g.52519750T>CCA216750KRT5c.547A>G (p.Ile183Val)
c.217A>G (p.Ile73Val)
n.645A>G
 ClinVar dbSNP
12g.52519750T>GCA384928740KRT5c.547A>C (p.Ile183Leu)
c.217A>C (p.Ile73Leu)
n.645A>C
12g.52519750T=CA2036540425KRT5c.547A= (p.Ile183=)
c.217A= (p.Ile73=)
n.645A=
12g.52519751G>ACA480070297KRT5c.546C>T (p.Phe182=)
c.216C>T (p.Phe72=)
c.441C>T (p.Phe147=)
n.644C>T
12g.52519751G>CCA384928741KRT5c.546C>G (p.Phe182Leu)
c.216C>G (p.Phe72Leu)
c.441C>G (p.Phe147Leu)
n.644C>G
12g.52519751G>TCA384928743KRT5c.546C>A (p.Phe182Leu)
c.216C>A (p.Phe72Leu)
c.441C>A (p.Phe147Leu)
n.644C>A
12g.52519752A>CCA384928745KRT5c.545T>G (p.Phe182Cys)
c.215T>G (p.Phe72Cys)
c.440T>G (p.Phe147Cys)
n.643T>G
12g.52519752A>GCA384928747KRT5c.545T>C (p.Phe182Ser)
c.215T>C (p.Phe72Ser)
c.440T>C (p.Phe147Ser)
n.643T>C
12g.52519752A>TCA384928749KRT5c.545T>A (p.Phe182Tyr)
c.215T>A (p.Phe72Tyr)
c.440T>A (p.Phe147Tyr)
n.643T>A
12g.52519753A=CA2036540426KRT5c.544T= (p.Phe182=)
c.214T= (p.Phe72=)
c.439T= (p.Phe147=)
n.642T=
12g.52519753A>CCA384928753KRT5c.544T>G (p.Phe182Val)
c.214T>G (p.Phe72Val)
c.439T>G (p.Phe147Val)
n.642T>G
12g.52519753A>GCA384928755KRT5c.544T>C (p.Phe182Leu)
c.214T>C (p.Phe72Leu)
c.439T>C (p.Phe147Leu)
n.642T>C
 dbSNP gnomAD v2 gnomAD v4
12g.52519753A>TCA384928751KRT5c.544T>A (p.Phe182Ile)
c.214T>A (p.Phe72Ile)
c.439T>A (p.Phe147Ile)
n.642T>A
12g.52519756_52519758delCA2580615206KRT5c.542_544del (p.Ser181del)
c.212_214del (p.Ser71del)
c.437_439del (p.Ser146del)
n.640_642del
 ClinVar
12g.52519754G>ACA6582828KRT5c.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
12g.52519754G>CCA480070298KRT5c.543C>G (p.Ser181=)
c.213C>G (p.Ser71=)
c.438C>G (p.Ser146=)
n.641C>G
 dbSNP gnomAD v2 gnomAD v4
12g.52519754G=CA2036540427KRT5c.543C= (p.Ser181=)
c.213C= (p.Ser71=)
c.438C= (p.Ser146=)
n.641C=
12g.52519754G>TCA480070299KRT5c.543C>A (p.Ser181=)
c.213C>A (p.Ser71=)
c.438C>A (p.Ser146=)
n.641C>A
12g.52519755G>ACA384928758KRT5c.542C>T (p.Ser181Phe)
c.212C>T (p.Ser71Phe)
c.437C>T (p.Ser146Phe)
n.640C>T
 COSMIC
12g.52519755G>CCA384928762KRT5c.542C>G (p.Ser181Cys)
c.212C>G (p.Ser71Cys)
c.437C>G (p.Ser146Cys)
n.640C>G
12g.52519755G>TCA384928760KRT5c.542C>A (p.Ser181Tyr)
c.212C>A (p.Ser71Tyr)
c.437C>A (p.Ser146Tyr)
n.640C>A
12g.52519756A=CA2036540428KRT5c.541T= (p.Ser181=)
c.211T= (p.Ser71=)
c.436T= (p.Ser146=)
n.639T=
12g.52519756A>CCA384928764KRT5c.541T>G (p.Ser181Ala)
c.211T>G (p.Ser71Ala)
c.436T>G (p.Ser146Ala)
n.639T>G
12g.52519756A>GCA216749KRT5c.541T>C (p.Ser181Pro)
c.211T>C (p.Ser71Pro)
c.436T>C (p.Ser146Pro)
n.639T>C
 ClinVar dbSNP
12g.52519756A>TCA384928767KRT5c.541T>A (p.Ser181Thr)
c.211T>A (p.Ser71Thr)
c.436T>A (p.Ser146Thr)
n.639T>A
 gnomAD v4
12g.52519757G>ACA6582829KRT5c.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
12g.52519757G>CCA480070300KRT5c.540C>G (p.Ala180=)
c.210C>G (p.Ala70=)
c.435C>G (p.Ala145=)
n.638C>G
12g.52519757G=CA2036540429KRT5c.540C= (p.Ala180=)
c.210C= (p.Ala70=)
c.435C= (p.Ala145=)
n.638C=
12g.52519757G>TCA6582830KRT5c.540C>A (p.Ala180=)
c.210C>A (p.Ala70=)
c.435C>A (p.Ala145=)
n.638C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52519758G>ACA384928772KRT5c.539C>T (p.Ala180Val)
c.209C>T (p.Ala70Val)
c.434C>T (p.Ala145Val)
n.637C>T
12g.52519758G>CCA384928773KRT5c.539C>G (p.Ala180Gly)
c.209C>G (p.Ala70Gly)
c.434C>G (p.Ala145Gly)
n.637C>G
12g.52519758G=CA2036540430KRT5c.539C= (p.Ala180=)
c.209C= (p.Ala70=)
c.434C= (p.Ala145=)
n.637C=
12g.52519758G>TCA216747KRT5c.539C>A (p.Ala180Asp)
c.209C>A (p.Ala70Asp)
c.434C>A (p.Ala145Asp)
n.637C>A
 ClinVar dbSNP
12g.52519759C>ACA384928777KRT5c.538G>T (p.Ala180Ser)
c.208G>T (p.Ala70Ser)
c.433G>T (p.Ala145Ser)
n.636G>T
12g.52519759C=CA2036540431KRT5c.538G= (p.Ala180=)
c.208G= (p.Ala70=)
c.433G= (p.Ala145=)
n.636G=
12g.52519759C>GCA216745KRT5c.538G>C (p.Ala180Pro)
c.208G>C (p.Ala70Pro)
c.433G>C (p.Ala145Pro)
n.636G>C
 ClinVar dbSNP
12g.52519759C>TCA384928780KRT5c.538G>A (p.Ala180Thr)
c.208G>A (p.Ala70Thr)
c.433G>A (p.Ala145Thr)
n.636G>A
 gnomAD v4
12g.52519760A>CCA384928782KRT5c.537T>G (p.Phe179Leu)
c.207T>G (p.Phe69Leu)
c.432T>G (p.Phe144Leu)
n.635T>G
12g.52519760A>GCA480070301KRT5c.537T>C (p.Phe179=)
c.207T>C (p.Phe69=)
c.432T>C (p.Phe144=)
n.635T>C
 dbSNP
12g.52519760A>TCA384928785KRT5c.537T>A (p.Phe179Leu)
c.207T>A (p.Phe69Leu)
c.432T>A (p.Phe144Leu)
n.635T>A
12g.52519761A=CA2036540432KRT5c.536T= (p.Phe179=)
c.206T= (p.Phe69=)
c.431T= (p.Phe144=)
n.634T=
12g.52519761A>CCA384928786KRT5c.536T>G (p.Phe179Cys)
c.206T>G (p.Phe69Cys)
c.431T>G (p.Phe144Cys)
n.634T>G
12g.52519761A>GCA216744KRT5c.536T>C (p.Phe179Ser)
c.206T>C (p.Phe69Ser)
c.431T>C (p.Phe144Ser)
n.634T>C
 ClinVar dbSNP
12g.52519761A>TCA384928787KRT5c.536T>A (p.Phe179Tyr)
c.206T>A (p.Phe69Tyr)
c.431T>A (p.Phe144Tyr)
n.634T>A
12g.52519762A>CCA384928788KRT5c.535T>G (p.Phe179Val)
c.205T>G (p.Phe69Val)
c.430T>G (p.Phe144Val)
n.633T>G
12g.52519762A>GCA384928791KRT5c.535T>C (p.Phe179Leu)
c.205T>C (p.Phe69Leu)
c.430T>C (p.Phe144Leu)
n.633T>C
12g.52519762A>TCA384928793KRT5c.535T>A (p.Phe179Ile)
c.205T>A (p.Phe69Ile)
c.430T>A (p.Phe144Ile)
n.633T>A
12g.52519763C>ACA384928796KRT5c.534G>T (p.Lys178Asn)
c.204G>T (p.Lys68Asn)
c.429G>T (p.Lys143Asn)
n.632G>T
12g.52519763C=CA2036540434KRT5c.534G= (p.Lys178=)
c.204G= (p.Lys68=)
c.429G= (p.Lys143=)
n.632G=
12g.52519763C>GCA384928797KRT5c.534G>C (p.Lys178Asn)
c.204G>C (p.Lys68Asn)
c.429G>C (p.Lys143Asn)
n.632G>C
12g.52519763C>TCA6582831KRT5c.534G>A (p.Lys178=)
c.204G>A (p.Lys68=)
c.429G>A (p.Lys143=)
n.632G>A
 dbSNP ExAC gnomAD v2
12g.52519763_52519766delinsCTTACA2036540433KRT5c.531_534delinsTAAG (p.Asn177=)
c.201_204delinsTAAG (p.Asn67=)
c.426_429delinsTAAG (p.Asn142=)
n.629_632delinsTAAG
12g.52519764T>ACA384928800KRT5c.533A>T (p.Lys178Met)
c.203A>T (p.Lys68Met)
c.428A>T (p.Lys143Met)
n.631A>T
12g.52519764T>CCA384928801KRT5c.533A>G (p.Lys178Arg)
c.203A>G (p.Lys68Arg)
c.428A>G (p.Lys143Arg)
n.631A>G
12g.52519764T>GCA384928803KRT5c.533A>C (p.Lys178Thr)
c.203A>C (p.Lys68Thr)
c.428A>C (p.Lys143Thr)
n.631A>C
12g.52519764_52519765delCA2618932649KRT5c.532_533del (p.Lys178ValfsTer?)
c.202_203del (p.Lys68ValfsTer?)
c.427_428del (p.Lys143ValfsTer?)
n.630_631del
 gnomAD v4
12g.52519766_52519768delCA216742KRT5c.531_533del (p.Asn177del)
c.201_203del (p.Asn67del)
c.426_428del (p.Asn142del)
n.629_631del
 ClinVar dbSNP
12g.52519765T>ACA384928810KRT5c.532A>T (p.Lys178Ter)
c.202A>T (p.Lys68Ter)
c.427A>T (p.Lys143Ter)
n.630A>T
12g.52519765T>CCA384928809KRT5c.532A>G (p.Lys178Glu)
c.202A>G (p.Lys68Glu)
c.427A>G (p.Lys143Glu)
n.630A>G
12g.52519765T>GCA384928807KRT5c.532A>C (p.Lys178Gln)
c.202A>C (p.Lys68Gln)
c.427A>C (p.Lys143Gln)
n.630A>C
12g.52519766A=CA2036540435KRT5c.531T= (p.Asn177=)
c.201T= (p.Asn67=)
c.426T= (p.Asn142=)
n.629T=
12g.52519766A>CCA384928811KRT5c.531T>G (p.Asn177Lys)
c.201T>G (p.Asn67Lys)
c.426T>G (p.Asn142Lys)
n.629T>G
12g.52519766A>GCA480070302KRT5c.531T>C (p.Asn177=)
c.201T>C (p.Asn67=)
c.426T>C (p.Asn142=)
n.629T>C
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.52519766A>TCA384928813KRT5c.531T>A (p.Asn177Lys)
c.201T>A (p.Asn67Lys)
c.426T>A (p.Asn142Lys)
n.629T>A
12g.52519767T>ACA384928815KRT5c.530A>T (p.Asn177Ile)
c.200A>T (p.Asn67Ile)
c.425A>T (p.Asn142Ile)
n.628A>T
12g.52519767T>CCA216741KRT5c.530A>G (p.Asn177Ser)
c.200A>G (p.Asn67Ser)
c.425A>G (p.Asn142Ser)
n.628A>G
 ClinVar dbSNP gnomAD v4
12g.52519767T>GCA384928818KRT5c.530A>C (p.Asn177Thr)
c.200A>C (p.Asn67Thr)
c.425A>C (p.Asn142Thr)
n.628A>C
12g.52519767T=CA2036540436KRT5c.530A= (p.Asn177=)
c.200A= (p.Asn67=)
c.425A= (p.Asn142=)
n.628A=
12g.52519768T>ACA384928820KRT5c.529A>T (p.Asn177Tyr)
c.199A>T (p.Asn67Tyr)
c.424A>T (p.Asn142Tyr)
n.627A>T
 ClinVar dbSNP
12g.52519768T>CCA384928822KRT5c.529A>G (p.Asn177Asp)
c.199A>G (p.Asn67Asp)
c.424A>G (p.Asn142Asp)
n.627A>G
 dbSNP
12g.52519768T>GCA384928824KRT5c.529A>C (p.Asn177His)
c.199A>C (p.Asn67His)
c.424A>C (p.Asn142His)
n.627A>C
12g.52519768T=CA2036540437KRT5c.529A= (p.Asn177=)
c.199A= (p.Asn67=)
c.424A= (p.Asn142=)
n.627A=
12g.52519769G>ACA480070303KRT5c.528C>T (p.Asn176=)
c.198C>T (p.Asn66=)
c.423C>T (p.Asn141=)
n.626C>T
 gnomAD v4
12g.52519769G>CCA384928826KRT5c.528C>G (p.Asn176Lys)
c.198C>G (p.Asn66Lys)
c.423C>G (p.Asn141Lys)
n.626C>G
12g.52519769G>TCA384928828KRT5c.528C>A (p.Asn176Lys)
c.198C>A (p.Asn66Lys)
c.423C>A (p.Asn141Lys)
n.626C>A
 ClinVar gnomAD v4
12g.52519770T>ACA384928830KRT5c.527A>T (p.Asn176Ile)
c.197A>T (p.Asn66Ile)
c.422A>T (p.Asn141Ile)
n.625A>T
12g.52519770T>CCA216740KRT5c.527A>G (p.Asn176Ser)
c.197A>G (p.Asn66Ser)
c.422A>G (p.Asn141Ser)
n.625A>G
 ClinVar dbSNP
12g.52519770T>GCA384928833KRT5c.527A>C (p.Asn176Thr)
c.197A>C (p.Asn66Thr)
c.422A>C (p.Asn141Thr)
n.625A>C
12g.52519770T=CA2036540438KRT5c.527A= (p.Asn176=)
c.197A= (p.Asn66=)
c.422A= (p.Asn141=)
n.625A=
12g.52519771T>ACA384928839KRT5c.526A>T (p.Asn176Tyr)
c.196A>T (p.Asn66Tyr)
c.421A>T (p.Asn141Tyr)
n.624A>T
12g.52519771T>CCA384928836KRT5c.526A>G (p.Asn176Asp)
c.196A>G (p.Asn66Asp)
c.421A>G (p.Asn141Asp)
n.624A>G
12g.52519771T>GCA384928838KRT5c.526A>C (p.Asn176His)
c.196A>C (p.Asn66His)
c.421A>C (p.Asn141His)
n.624A>C
12g.52519772G>ACA480070304KRT5c.525C>T (p.Leu175=)
c.195C>T (p.Leu65=)
c.420C>T (p.Leu140=)
n.623C>T
 dbSNP gnomAD v3 gnomAD v4
12g.52519772G>CCA480070305KRT5c.525C>G (p.Leu175=)
c.195C>G (p.Leu65=)
c.420C>G (p.Leu140=)
n.623C>G
12g.52519772G=CA2036540439KRT5c.525C= (p.Leu175=)
c.195C= (p.Leu65=)
c.420C= (p.Leu140=)
n.623C=
12g.52519772G>TCA480070306KRT5c.525C>A (p.Leu175=)
c.195C>A (p.Leu65=)
c.420C>A (p.Leu140=)
n.623C>A
12g.52519773A>CCA384928842KRT5c.524T>G (p.Leu175Arg)
c.194T>G (p.Leu65Arg)
c.419T>G (p.Leu140Arg)
n.622T>G
12g.52519773A>GCA384928844KRT5c.524T>C (p.Leu175Pro)
c.194T>C (p.Leu65Pro)
c.419T>C (p.Leu140Pro)
n.622T>C
12g.52519773A>TCA384928846KRT5c.524T>A (p.Leu175His)
c.194T>A (p.Leu65His)
c.419T>A (p.Leu140His)
n.622T>A
12g.52519774G>ACA216739KRT5c.523C>T (p.Leu175Phe)
c.193C>T (p.Leu65Phe)
c.418C>T (p.Leu140Phe)
n.621C>T
 ClinVar dbSNP
12g.52519774G>CCA384928849KRT5c.523C>G (p.Leu175Val)
c.193C>G (p.Leu65Val)
c.418C>G (p.Leu140Val)
n.621C>G
12g.52519774G=CA2036540440KRT5c.523C= (p.Leu175=)
c.193C= (p.Leu65=)
c.418C= (p.Leu140=)
n.621C=
12g.52519774G>TCA384928851KRT5c.523C>A (p.Leu175Ile)
c.193C>A (p.Leu65Ile)
c.418C>A (p.Leu140Ile)
n.621C>A
12g.52519775G>ACA480070307KRT5c.522C>T (p.Thr174=)
c.192C>T (p.Thr64=)
c.417C>T (p.Thr139=)
n.620C>T
12g.52519775G>CCA480070308KRT5c.522C>G (p.Thr174=)
c.192C>G (p.Thr64=)
c.417C>G (p.Thr139=)
n.620C>G
12g.52519775G=CA2036540441KRT5c.522C= (p.Thr174=)
c.192C= (p.Thr64=)
c.417C= (p.Thr139=)
n.620C=
12g.52519775G>TCA6582832KRT5c.522C>A (p.Thr174=)
c.192C>A (p.Thr64=)
c.417C>A (p.Thr139=)
n.620C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52519775_52519776delinsAACA645584187KRT5c.521_522delinsTT (p.Thr174Ile)
c.191_192delinsTT (p.Thr64Ile)
c.416_417delinsTT (p.Thr139Ile)
n.619_620delinsTT
 COSMIC
12g.52519776G>ACA384928854KRT5c.521C>T (p.Thr174Ile)
c.191C>T (p.Thr64Ile)
c.416C>T (p.Thr139Ile)
n.619C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52519776G>CCA384928856KRT5c.521C>G (p.Thr174Ser)
c.191C>G (p.Thr64Ser)
c.416C>G (p.Thr139Ser)
n.619C>G
12g.52519776G=CA2036540442KRT5c.521C= (p.Thr174=)
c.191C= (p.Thr64=)
c.416C= (p.Thr139=)
n.619C=
12g.52519776G>TCA384928858KRT5c.521C>A (p.Thr174Asn)
c.191C>A (p.Thr64Asn)
c.416C>A (p.Thr139Asn)
n.619C>A
 gnomAD v4
12g.52519777T>ACA384928860KRT5c.520A>T (p.Thr174Ser)
c.190A>T (p.Thr64Ser)
c.415A>T (p.Thr139Ser)
n.618A>T
12g.52519777T>CCA384928862KRT5c.520A>G (p.Thr174Ala)
c.190A>G (p.Thr64Ala)
c.415A>G (p.Thr139Ala)
n.618A>G
12g.52519777T>GCA384928864KRT5c.520A>C (p.Thr174Pro)
c.190A>C (p.Thr64Pro)
c.415A>C (p.Thr139Pro)
n.618A>C
12g.52519778C>ACA384928867KRT5c.519G>T (p.Lys173Asn)
c.189G>T (p.Lys63Asn)
c.414G>T (p.Lys138Asn)
n.617G>T
12g.52519778C=CA2036540443KRT5c.519G= (p.Lys173=)
c.189G= (p.Lys63=)
c.414G= (p.Lys138=)
n.617G=
12g.52519778C>GCA216738KRT5c.519G>C (p.Lys173Asn)
c.189G>C (p.Lys63Asn)
c.414G>C (p.Lys138Asn)
n.617G>C
 ClinVar dbSNP COSMIC
12g.52519778C>TCA480070309KRT5c.519G>A (p.Lys173=)
c.189G>A (p.Lys63=)
c.414G>A (p.Lys138=)
n.617G>A
12g.52519779T>ACA384928869KRT5c.518A>T (p.Lys173Met)
c.188A>T (p.Lys63Met)
c.413A>T (p.Lys138Met)
n.616A>T
12g.52519779T>CCA384928873KRT5c.518A>G (p.Lys173Arg)
c.188A>G (p.Lys63Arg)
c.413A>G (p.Lys138Arg)
n.616A>G
12g.52519779T>GCA384928871KRT5c.518A>C (p.Lys173Thr)
c.188A>C (p.Lys63Thr)
c.413A>C (p.Lys138Thr)
n.616A>C
12g.52519780delCA2618932658KRT5c.518del (p.Lys173ArgfsTer?)
c.188del (p.Lys63ArgfsTer?)
c.413del (p.Lys138ArgfsTer?)
n.616del
 gnomAD v4
12g.52519780T>ACA384928875KRT5c.517A>T (p.Lys173Ter)
c.187A>T (p.Lys63Ter)
c.412A>T (p.Lys138Ter)
n.615A>T
12g.52519780T>CCA384928877KRT5c.517A>G (p.Lys173Glu)
c.187A>G (p.Lys63Glu)
c.412A>G (p.Lys138Glu)
n.615A>G
12g.52519780T>GCA384928879KRT5c.517A>C (p.Lys173Gln)
c.187A>C (p.Lys63Gln)
c.412A>C (p.Lys138Gln)
n.615A>C
12g.52519781G>ACA480070310KRT5c.516C>T (p.Ile172=)
c.186C>T (p.Ile62=)
c.411C>T (p.Ile137=)
n.614C>T
 gnomAD v4
12g.52519781G>CCA384928881KRT5c.516C>G (p.Ile172Met)
c.186C>G (p.Ile62Met)
c.411C>G (p.Ile137Met)
n.614C>G
12g.52519781G>TCA480070311KRT5c.516C>A (p.Ile172=)
c.186C>A (p.Ile62=)
c.411C>A (p.Ile137=)
n.614C>A
12g.52519782A>CCA384928884KRT5c.515T>G (p.Ile172Ser)
c.185T>G (p.Ile62Ser)
c.410T>G (p.Ile137Ser)
n.613T>G
12g.52519782A>GCA384928886KRT5c.515T>C (p.Ile172Thr)
c.185T>C (p.Ile62Thr)
c.410T>C (p.Ile137Thr)
n.613T>C
12g.52519782A>TCA384928888KRT5c.515T>A (p.Ile172Asn)
c.185T>A (p.Ile62Asn)
c.410T>A (p.Ile137Asn)
n.613T>A
12g.52519783T>ACA384928890KRT5c.514A>T (p.Ile172Phe)
c.184A>T (p.Ile62Phe)
c.409A>T (p.Ile137Phe)
n.612A>T
12g.52519783T>CCA216736KRT5c.514A>G (p.Ile172Val)
c.184A>G (p.Ile62Val)
c.409A>G (p.Ile137Val)
n.612A>G
 ClinVar dbSNP
12g.52519783T>GCA384928893KRT5c.514A>C (p.Ile172Leu)
c.184A>C (p.Ile62Leu)
c.409A>C (p.Ile137Leu)
n.612A>C
12g.52519783T=CA2036540444KRT5c.514A= (p.Ile172=)
c.184A= (p.Ile62=)
c.409A= (p.Ile137=)
n.612A=
12g.52519784C>ACA384928895KRT5c.513G>T (p.Gln171His)
c.183G>T (p.Gln61His)
c.408G>T (p.Gln136His)
n.611G>T
12g.52519784C=CA2036540445KRT5c.513G= (p.Gln171=)
c.183G= (p.Gln61=)
c.408G= (p.Gln136=)
n.611G=
12g.52519784C>GCA384928897KRT5c.513G>C (p.Gln171His)
c.183G>C (p.Gln61His)
c.408G>C (p.Gln136His)
n.611G>C
12g.52519784C>TCA216734KRT5c.513G>A (p.Gln171=)
c.183G>A (p.Gln61=)
c.408G>A (p.Gln136=)
n.611G>A
 ClinVar dbSNP gnomAD v4
12g.52519786_52519788delCA2695216900KRT5c.511_513del (p.Gln171del)
c.181_183del (p.Gln61del)
c.406_408del (p.Gln136del)
n.609_611del
12g.52519785T>ACA384928900KRT5c.512A>T (p.Gln171Leu)
c.182A>T (p.Gln61Leu)
c.407A>T (p.Gln136Leu)
n.610A>T
12g.52519785T>CCA384928904KRT5c.512A>G (p.Gln171Arg)
c.182A>G (p.Gln61Arg)
c.407A>G (p.Gln136Arg)
n.610A>G
12g.52519785T>GCA384928902KRT5c.512A>C (p.Gln171Pro)
c.182A>C (p.Gln61Pro)
c.407A>C (p.Gln136Pro)
n.610A>C
12g.52519786G>ACA384928905KRT5c.511C>T (p.Gln171Ter)
c.181C>T (p.Gln61Ter)
c.406C>T (p.Gln136Ter)
n.609C>T
12g.52519786G>CCA237229058KRT5c.511C>G (p.Gln171Glu)
c.181C>G (p.Gln61Glu)
c.406C>G (p.Gln136Glu)
n.609C>G
 dbSNP gnomAD v4
12g.52519786G=CA2036540446KRT5c.511C= (p.Gln171=)
c.181C= (p.Gln61=)
c.406C= (p.Gln136=)
n.609C=
12g.52519786G>TCA6582833KRT5c.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
12g.52519787C>ACA384928908KRT5c.510G>T (p.Glu170Asp)
c.180G>T (p.Glu60Asp)
c.405G>T (p.Glu135Asp)
n.608G>T
12g.52519787C>GCA384928910KRT5c.510G>C (p.Glu170Asp)
c.180G>C (p.Glu60Asp)
c.405G>C (p.Glu135Asp)
n.608G>C
12g.52519787C>TCA480070312KRT5c.510G>A (p.Glu170=)
c.180G>A (p.Glu60=)
c.405G>A (p.Glu135=)
n.608G>A
12g.52519788T>ACA384928912KRT5c.509A>T (p.Glu170Val)
c.179A>T (p.Glu60Val)
c.404A>T (p.Glu135Val)
n.607A>T
 dbSNP gnomAD v2 gnomAD v4
12g.52519788T>CCA216732KRT5c.509A>G (p.Glu170Gly)
c.179A>G (p.Glu60Gly)
c.404A>G (p.Glu135Gly)
n.607A>G
 ClinVar dbSNP
12g.52519788T>GCA384928915KRT5c.509A>C (p.Glu170Ala)
c.179A>C (p.Glu60Ala)
c.404A>C (p.Glu135Ala)
n.607A>C
12g.52519788T=CA2036540447KRT5c.509A= (p.Glu170=)
c.179A= (p.Glu60=)
c.404A= (p.Glu135=)
n.607A=
12g.52519789C>ACA384928918KRT5c.508G>T (p.Glu170Ter)
c.178G>T (p.Glu60Ter)
c.403G>T (p.Glu135Ter)
n.606G>T
 ClinVar
12g.52519789C=CA2036540448KRT5c.508G= (p.Glu170=)
c.178G= (p.Glu60=)
c.403G= (p.Glu135=)
n.606G=
12g.52519789C>GCA384928920KRT5c.508G>C (p.Glu170Gln)
c.178G>C (p.Glu60Gln)
c.403G>C (p.Glu135Gln)
n.606G>C
12g.52519789C>TCA216731KRT5c.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
12g.52519790G>ACA6582835KRT5c.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
12g.52519790G>CCA480070313KRT5c.507C>G (p.Arg169=)
c.177C>G (p.Arg59=)
c.402C>G (p.Arg134=)
n.605C>G
12g.52519790G=CA2036540449KRT5c.507C= (p.Arg169=)
c.177C= (p.Arg59=)
c.402C= (p.Arg134=)
n.605C=
12g.52519790G>TCA6582834KRT5c.507C>A (p.Arg169=)
c.177C>A (p.Arg59=)
c.402C>A (p.Arg134=)
n.605C>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.52519791C>ACA384928925KRT5c.506G>T (p.Arg169Leu)
c.176G>T (p.Arg59Leu)
c.401G>T (p.Arg134Leu)
n.604G>T
12g.52519791C=CA2036540450KRT5c.506G= (p.Arg169=)
c.176G= (p.Arg59=)
c.401G= (p.Arg134=)
n.604G=
12g.52519791C>GCA216730KRT5c.506G>C (p.Arg169Pro)
c.176G>C (p.Arg59Pro)
c.401G>C (p.Arg134Pro)
n.604G>C
 ClinVar dbSNP
12g.52519791C>TCA6582836KRT5c.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
12g.52519792G>ACA384928928KRT5c.505C>T (p.Arg169Cys)
c.175C>T (p.Arg59Cys)
c.400C>T (p.Arg134Cys)
n.603C>T
 dbSNP gnomAD v2 gnomAD v4
12g.52519792G>CCA384928930KRT5c.505C>G (p.Arg169Gly)
c.175C>G (p.Arg59Gly)
c.400C>G (p.Arg134Gly)
n.603C>G
12g.52519792G=CA2036540451KRT5c.505C= (p.Arg169=)
c.175C= (p.Arg59=)
c.400C= (p.Arg134=)
n.603C=
12g.52519792G>TCA6582837KRT5c.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
12g.52519793C>ACA384928933KRT5c.504G>T (p.Glu168Asp)
c.174G>T (p.Glu58Asp)
c.399G>T (p.Glu133Asp)
n.602G>T
12g.52519793C=CA2036540452KRT5c.504G= (p.Glu168=)
c.174G= (p.Glu58=)
c.399G= (p.Glu133=)
n.602G=
12g.52519793C>GCA384928935KRT5c.504G>C (p.Glu168Asp)
c.174G>C (p.Glu58Asp)
c.399G>C (p.Glu133Asp)
n.602G>C
 ClinVar
12g.52519793C>TCA480070314KRT5c.504G>A (p.Glu168=)
c.174G>A (p.Glu58=)
c.399G>A (p.Glu133=)
n.602G>A
 dbSNP gnomAD v3 gnomAD v4
12g.52519794T>ACA384928938KRT5c.503A>T (p.Glu168Val)
c.173A>T (p.Glu58Val)
c.398A>T (p.Glu133Val)
n.601A>T
 ClinVar
12g.52519794T>CCA384928940KRT5c.503A>G (p.Glu168Gly)
c.173A>G (p.Glu58Gly)
c.398A>G (p.Glu133Gly)
n.601A>G
12g.52519794T>GCA384928941KRT5c.503A>C (p.Glu168Ala)
c.173A>C (p.Glu58Ala)
c.398A>C (p.Glu133Ala)
n.601A>C
12g.52519795C>ACA384928943KRT5c.502G>T (p.Glu168Ter)
c.172G>T (p.Glu58Ter)
c.397G>T (p.Glu133Ter)
n.600G>T
12g.52519795C=CA2036540453KRT5c.502G= (p.Glu168=)
c.172G= (p.Glu58=)
c.397G= (p.Glu133=)
n.600G=
12g.52519795C>GCA384928945KRT5c.502G>C (p.Glu168Gln)
c.172G>C (p.Glu58Gln)
c.397G>C (p.Glu133Gln)
n.600G>C
12g.52519795C>TCA216729KRT5c.502G>A (p.Glu168Lys)
c.172G>A (p.Glu58Lys)
c.397G>A (p.Glu133Lys)
n.600G>A
 ClinVar dbSNP COSMIC
12g.52519796C>ACA384928950KRT5c.501G>T (p.Glu167Asp)
c.171G>T (p.Glu57Asp)
c.396G>T (p.Glu132Asp)
n.599G>T
12g.52519796C>GCA384928948KRT5c.501G>C (p.Glu167Asp)
c.171G>C (p.Glu57Asp)
c.396G>C (p.Glu132Asp)
n.599G>C
12g.52519796C>TCA480070315KRT5c.501G>A (p.Glu167=)
c.171G>A (p.Glu57=)
c.396G>A (p.Glu132=)
n.599G>A
 gnomAD v4
12g.52519797T>ACA384928952KRT5c.500A>T (p.Glu167Val)
c.170A>T (p.Glu57Val)
c.395A>T (p.Glu132Val)
n.598A>T
 dbSNP
12g.52519797T>CCA384928954KRT5c.500A>G (p.Glu167Gly)
c.170A>G (p.Glu57Gly)
c.395A>G (p.Glu132Gly)
n.598A>G
12g.52519797T>GCA384928957KRT5c.500A>C (p.Glu167Ala)
c.170A>C (p.Glu57Ala)
c.395A>C (p.Glu132Ala)
n.598A>C
12g.52519797T=CA2036540454KRT5c.500A= (p.Glu167=)
c.170A= (p.Glu57=)
c.395A= (p.Glu132=)
n.598A=
12g.52519798C>ACA384928958KRT5c.499G>T (p.Glu167Ter)
c.169G>T (p.Glu57Ter)
c.394G>T (p.Glu132Ter)
n.597G>T
12g.52519798C=CA2036540455KRT5c.499G= (p.Glu167=)
c.169G= (p.Glu57=)
c.394G= (p.Glu132=)
n.597G=
12g.52519798C>GCA384928959KRT5c.499G>C (p.Glu167Gln)
c.169G>C (p.Glu57Gln)
c.394G>C (p.Glu132Gln)
n.597G>C
 dbSNP gnomAD v2 gnomAD v4
12g.52519798C>TCA216728KRT5c.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
12g.52519799G>ACA480070316KRT5c.498C>T (p.Thr166=)
c.168C>T (p.Thr56=)
c.393C>T (p.Thr131=)
n.596C>T
 dbSNP gnomAD v3 gnomAD v4
12g.52519799G>CCA480070317KRT5c.498C>G (p.Thr166=)
c.168C>G (p.Thr56=)
c.393C>G (p.Thr131=)
n.596C>G
 dbSNP gnomAD v2 gnomAD v4
12g.52519799G=CA2036540456KRT5c.498C= (p.Thr166=)
c.168C= (p.Thr56=)
c.393C= (p.Thr131=)
n.596C=
12g.52519799G>TCA480070318KRT5c.498C>A (p.Thr166=)
c.168C>A (p.Thr56=)
c.393C>A (p.Thr131=)
n.596C>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.52519800G>ACA384928966KRT5c.497C>T (p.Thr166Ile)
c.167C>T (p.Thr56Ile)
c.392C>T (p.Thr131Ile)
n.595C>T
12g.52519800G>CCA384928962KRT5c.497C>G (p.Thr166Ser)
c.167C>G (p.Thr56Ser)
c.392C>G (p.Thr131Ser)
n.595C>G
12g.52519800G>TCA384928964KRT5c.497C>A (p.Thr166Asn)
c.167C>A (p.Thr56Asn)
c.392C>A (p.Thr131Asn)
n.595C>A
 gnomAD v4
12g.52519801T>ACA384928968KRT5c.496A>T (p.Thr166Ser)
c.166A>T (p.Thr56Ser)
c.391A>T (p.Thr131Ser)
n.594A>T
12g.52519801T>CCA384928970KRT5c.496A>G (p.Thr166Ala)
c.166A>G (p.Thr56Ala)
c.391A>G (p.Thr131Ala)
n.594A>G
 gnomAD v4
12g.52519801T>GCA384928972KRT5c.496A>C (p.Thr166Pro)
c.166A>C (p.Thr56Pro)
c.391A>C (p.Thr131Pro)
n.594A>C
12g.52519802C>ACA216727KRT5c.495G>T (p.Arg165Ser)
c.165G>T (p.Arg55Ser)
c.390G>T (p.Arg130Ser)
n.593G>T
 ClinVar dbSNP COSMIC
12g.52519802C=CA2036540457KRT5c.495G= (p.Arg165=)
c.165G= (p.Arg55=)
c.390G= (p.Arg130=)
n.593G=
12g.52519802C>GCA384928975KRT5c.495G>C (p.Arg165Ser)
c.165G>C (p.Arg55Ser)
c.390G>C (p.Arg130Ser)
n.593G>C
 ClinVar dbSNP
12g.52519802C>TCA480070319KRT5c.495G>A (p.Arg165=)
c.165G>A (p.Arg55=)
c.390G>A (p.Arg130=)
n.593G>A
 COSMIC
12g.52519803C>ACA384928977KRT5c.494G>T (p.Arg165Met)
c.164G>T (p.Arg55Met)
c.389G>T (p.Arg130Met)
n.592G>T
12g.52519803C=CA2036540458KRT5c.494G= (p.Arg165=)
c.164G= (p.Arg55=)
c.389G= (p.Arg130=)
n.592G=
12g.52519803C>GCA384928981KRT5c.494G>C (p.Arg165Thr)
c.164G>C (p.Arg55Thr)
c.389G>C (p.Arg130Thr)
n.592G>C
12g.52519803C>TCA384928979KRT5c.494G>A (p.Arg165Lys)
c.164G>A (p.Arg55Lys)
c.389G>A (p.Arg130Lys)
n.592G>A
 dbSNP gnomAD v4
12g.52519804T>ACA384928983KRT5c.493A>T (p.Arg165Trp)
c.163A>T (p.Arg55Trp)
c.388A>T (p.Arg130Trp)
n.591A>T
12g.52519804T>CCA384928985KRT5c.493A>G (p.Arg165Gly)
c.163A>G (p.Arg55Gly)
c.388A>G (p.Arg130Gly)
n.591A>G
12g.52519804T>GCA480070320KRT5c.493A>C (p.Arg165=)
c.163A>C (p.Arg55=)
c.388A>C (p.Arg130=)
n.591A>C
12g.52519805C>ACA480070322KRT5c.492G>T (p.Val164=)
c.162G>T (p.Val54=)
c.387G>T (p.Val129=)
n.590G>T
12g.52519805C=CA2036540459KRT5c.492G= (p.Val164=)
c.162G= (p.Val54=)
c.387G= (p.Val129=)
n.590G=
12g.52519805C>GCA480070321KRT5c.492G>C (p.Val164=)
c.162G>C (p.Val54=)
c.387G>C (p.Val129=)
n.590G>C
 gnomAD v3 gnomAD v4
12g.52519805C>TCA6582838KRT5c.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
12g.52519806A>CCA384928992KRT5c.491T>G (p.Val164Gly)
c.161T>G (p.Val54Gly)
c.386T>G (p.Val129Gly)
n.589T>G
12g.52519806A>GCA384928989KRT5c.491T>C (p.Val164Ala)
c.161T>C (p.Val54Ala)
c.386T>C (p.Val129Ala)
n.589T>C
12g.52519806A>TCA384928991KRT5c.491T>A (p.Val164Glu)
c.161T>A (p.Val54Glu)
c.386T>A (p.Val129Glu)
n.589T>A
12g.52519807C>ACA384928994KRT5c.490G>T (p.Val164Leu)
c.160G>T (p.Val54Leu)
c.385G>T (p.Val129Leu)
n.588G>T
12g.52519807C>GCA384928996KRT5c.490G>C (p.Val164Leu)
c.160G>C (p.Val54Leu)
c.385G>C (p.Val129Leu)
n.588G>C
12g.52519807C>TCA384928997KRT5c.490G>A (p.Val164Met)
c.160G>A (p.Val54Met)
c.385G>A (p.Val129Met)
n.588G>A
 gnomAD v4
12g.52519808C>ACA216725KRT5c.489G>T (p.Arg163Ser)
c.159G>T (p.Arg53Ser)
c.384G>T (p.Arg128Ser)
n.587G>T
 ClinVar dbSNP
12g.52519808C=CA2036540460KRT5c.489G= (p.Arg163=)
c.159G= (p.Arg53=)
c.384G= (p.Arg128=)
n.587G=
12g.52519808C>GCA384929000KRT5c.489G>C (p.Arg163Ser)
c.159G>C (p.Arg53Ser)
c.384G>C (p.Arg128Ser)
n.587G>C
12g.52519808C>TCA480070323KRT5c.489G>A (p.Arg163=)
c.159G>A (p.Arg53=)
c.384G>A (p.Arg128=)
n.587G>A
 dbSNP
12g.52519809C>ACA384929002KRT5c.488G>T (p.Arg163Met)
c.158G>T (p.Arg53Met)
c.383G>T (p.Arg128Met)
n.586G>T
12g.52519809C>GCA384929004KRT5c.488G>C (p.Arg163Thr)
c.158G>C (p.Arg53Thr)
c.383G>C (p.Arg128Thr)
n.586G>C
12g.52519809C>TCA384929006KRT5c.488G>A (p.Arg163Lys)
c.158G>A (p.Arg53Lys)
c.383G>A (p.Arg128Lys)
n.586G>A
 gnomAD v4
12g.52519810T>ACA384929008KRT5c.487A>T (p.Arg163Trp)
c.157A>T (p.Arg53Trp)
c.382A>T (p.Arg128Trp)
n.585A>T
12g.52519810T>CCA384929010KRT5c.487A>G (p.Arg163Gly)
c.157A>G (p.Arg53Gly)
c.382A>G (p.Arg128Gly)
n.585A>G
12g.52519810T>GCA480070324KRT5c.487A>C (p.Arg163=)
c.157A>C (p.Arg53=)
c.382A>C (p.Arg128=)
n.585A>C
 gnomAD v3 gnomAD v4
12g.52519811C>ACA6582839KRT5c.486G>T (p.Gln162His)
c.156G>T (p.Gln52His)
c.381G>T (p.Gln127His)
n.584G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52519811C=CA2036540461KRT5c.486G= (p.Gln162=)
c.156G= (p.Gln52=)
c.381G= (p.Gln127=)
n.584G=
12g.52519811C>GCA384929012KRT5c.486G>C (p.Gln162His)
c.156G>C (p.Gln52His)
c.381G>C (p.Gln127His)
n.584G>C
12g.52519811C>TCA480070325KRT5c.486G>A (p.Gln162=)
c.156G>A (p.Gln52=)
c.381G>A (p.Gln127=)
n.584G>A
12g.52519812T>ACA384929016KRT5c.485A>T (p.Gln162Leu)
c.155A>T (p.Gln52Leu)
c.380A>T (p.Gln127Leu)
n.583A>T
12g.52519812T>CCA384929017KRT5c.485A>G (p.Gln162Arg)
c.155A>G (p.Gln52Arg)
c.380A>G (p.Gln127Arg)
n.583A>G
12g.52519812T>GCA384929019KRT5c.485A>C (p.Gln162Pro)
c.155A>C (p.Gln52Pro)
c.380A>C (p.Gln127Pro)
n.583A>C
12g.52519813G>ACA384929021KRT5c.484C>T (p.Gln162Ter)
c.154C>T (p.Gln52Ter)
c.379C>T (p.Gln127Ter)
n.582C>T
 COSMIC
12g.52519813G>CCA384929023KRT5c.484C>G (p.Gln162Glu)
c.154C>G (p.Gln52Glu)
c.379C>G (p.Gln127Glu)
n.582C>G
12g.52519813G>TCA384929025KRT5c.484C>A (p.Gln162Lys)
c.154C>A (p.Gln52Lys)
c.379C>A (p.Gln127Lys)
n.582C>A
12g.52519814G>ACA480070326KRT5c.483C>T (p.Ile161=)
c.153C>T (p.Ile51=)
c.378C>T (p.Ile126=)
n.581C>T
12g.52519814G>CCA384929027KRT5c.483C>G (p.Ile161Met)
c.153C>G (p.Ile51Met)
c.378C>G (p.Ile126Met)
n.581C>G
12g.52519814G>TCA480070327KRT5c.483C>A (p.Ile161=)
c.153C>A (p.Ile51=)
c.378C>A (p.Ile126=)
n.581C>A
12g.52519817_52519828delCA2695216901KRT5c.472_483del (p.Asp158_Ile161del)
c.142_153del (p.Asp48_Ile51del)
c.367_378del (p.Asp123_Ile126del)
n.570_581del
12g.52519815A=CA2036540462KRT5c.482T= (p.Ile161=)
c.152T= (p.Ile51=)
c.377T= (p.Ile126=)
n.580T=
12g.52519815A>CCA216724KRT5c.482T>G (p.Ile161Ser)
c.152T>G (p.Ile51Ser)
c.377T>G (p.Ile126Ser)
n.580T>G
 ClinVar dbSNP gnomAD v4
12g.52519815A>GCA384929030KRT5c.482T>C (p.Ile161Thr)
c.152T>C (p.Ile51Thr)
c.377T>C (p.Ile126Thr)
n.580T>C
 gnomAD v4
12g.52519815A>TCA384929032KRT5c.482T>A (p.Ile161Asn)
c.152T>A (p.Ile51Asn)
c.377T>A (p.Ile126Asn)
n.580T>A
 ClinVar dbSNP gnomAD v4
12g.52519816T>ACA384929034KRT5c.481A>T (p.Ile161Phe)
c.151A>T (p.Ile51Phe)
c.376A>T (p.Ile126Phe)
n.579A>T
 dbSNP gnomAD v2 gnomAD v4
12g.52519816T>CCA384929035KRT5c.481A>G (p.Ile161Val)
c.151A>G (p.Ile51Val)
c.376A>G (p.Ile126Val)
n.579A>G
12g.52519816T>GCA384929037KRT5c.481A>C (p.Ile161Leu)
c.151A>C (p.Ile51Leu)
c.376A>C (p.Ile126Leu)
n.579A>C
 gnomAD v4
12g.52519816T=CA2036540463KRT5c.481A= (p.Ile161=)
c.151A= (p.Ile51=)
c.376A= (p.Ile126=)
n.579A=
12g.52519817G>ACA480070328KRT5c.480C>T (p.Ser160=)
c.150C>T (p.Ser50=)
c.375C>T (p.Ser125=)
n.578C>T
12g.52519817G>CCA384929039KRT5c.480C>G (p.Ser160Arg)
c.150C>G (p.Ser50Arg)
c.375C>G (p.Ser125Arg)
n.578C>G
12g.52519817G>TCA384929041KRT5c.480C>A (p.Ser160Arg)
c.150C>A (p.Ser50Arg)
c.375C>A (p.Ser125Arg)
n.578C>A
12g.52519818C>ACA384929043KRT5c.479G>T (p.Ser160Ile)
c.149G>T (p.Ser50Ile)
c.374G>T (p.Ser125Ile)
n.577G>T
12g.52519818C>GCA384929045KRT5c.479G>C (p.Ser160Thr)
c.149G>C (p.Ser50Thr)
c.374G>C (p.Ser125Thr)
n.577G>C
 gnomAD v3 gnomAD v4
12g.52519818C>TCA384929047KRT5c.479G>A (p.Ser160Asn)
c.149G>A (p.Ser50Asn)
c.374G>A (p.Ser125Asn)
n.577G>A
12g.52519819T>ACA384929048KRT5c.478A>T (p.Ser160Cys)
c.148A>T (p.Ser50Cys)
c.373A>T (p.Ser125Cys)
n.576A>T
12g.52519819T>CCA384929050KRT5c.478A>G (p.Ser160Gly)
c.148A>G (p.Ser50Gly)
c.373A>G (p.Ser125Gly)
n.576A>G
 dbSNP gnomAD v3 gnomAD v4
12g.52519819T>GCA384929052KRT5c.478A>C (p.Ser160Arg)
c.148A>C (p.Ser50Arg)
c.373A>C (p.Ser125Arg)
n.576A>C
12g.52519819T=CA2036540464KRT5c.478A= (p.Ser160=)
c.148A= (p.Ser50=)
c.373A= (p.Ser125=)
n.576A=
12g.52519820G>ACA480070329KRT5c.477C>T (p.Pro159=)
c.147C>T (p.Pro49=)
c.372C>T (p.Pro124=)
n.575C>T
 dbSNP gnomAD v2 gnomAD v4
12g.52519820G>CCA480070330KRT5c.477C>G (p.Pro159=)
c.147C>G (p.Pro49=)
c.372C>G (p.Pro124=)
n.575C>G
12g.52519820G=CA2036540465KRT5c.477C= (p.Pro159=)
c.147C= (p.Pro49=)
c.372C= (p.Pro124=)
n.575C=
12g.52519820G>TCA480070331KRT5c.477C>A (p.Pro159=)
c.147C>A (p.Pro49=)
c.372C>A (p.Pro124=)
n.575C>A
12g.52519823dupCA645584188KRT5c.477dup (p.Ser160GlnfsTer19)
c.147dup (p.Ser50GlnfsTer19)
c.372dup (p.Ser125GlnfsTer19)
n.575dup
 COSMIC
12g.52519821G>ACA384929057KRT5c.476C>T (p.Pro159Leu)
c.146C>T (p.Pro49Leu)
c.371C>T (p.Pro124Leu)
n.574C>T
12g.52519821G>CCA384929054KRT5c.476C>G (p.Pro159Arg)
c.146C>G (p.Pro49Arg)
c.371C>G (p.Pro124Arg)
n.574C>G
12g.52519821G>TCA384929056KRT5c.476C>A (p.Pro159His)
c.146C>A (p.Pro49His)
c.371C>A (p.Pro124His)
n.574C>A
12g.52519822G>ACA384929060KRT5c.475C>T (p.Pro159Ser)
c.145C>T (p.Pro49Ser)
c.370C>T (p.Pro124Ser)
n.573C>T
 gnomAD v4
12g.52519822G>CCA384929061KRT5c.475C>G (p.Pro159Ala)
c.145C>G (p.Pro49Ala)
c.370C>G (p.Pro124Ala)
n.573C>G
12g.52519822G>TCA384929063KRT5c.475C>A (p.Pro159Thr)
c.145C>A (p.Pro49Thr)
c.370C>A (p.Pro124Thr)
n.573C>A
12g.52519823G>ACA480070332KRT5c.474C>T (p.Asp158=)
c.144C>T (p.Asp48=)
c.369C>T (p.Asp123=)
n.572C>T
 dbSNP gnomAD v3 gnomAD v4
12g.52519823G>CCA384929065KRT5c.474C>G (p.Asp158Glu)
c.144C>G (p.Asp48Glu)
c.369C>G (p.Asp123Glu)
n.572C>G
12g.52519823G=CA2036540466KRT5c.474C= (p.Asp158=)
c.144C= (p.Asp48=)
c.369C= (p.Asp123=)
n.572C=
12g.52519823G>TCA384929067KRT5c.474C>A (p.Asp158Glu)
c.144C>A (p.Asp48Glu)
c.369C>A (p.Asp123Glu)
n.572C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52519824T>ACA216723KRT5c.473A>T (p.Asp158Val)
c.143A>T (p.Asp48Val)
c.368A>T (p.Asp123Val)
n.571A>T
 ClinVar dbSNP
12g.52519824T>CCA384929071KRT5c.473A>G (p.Asp158Gly)
c.143A>G (p.Asp48Gly)
c.368A>G (p.Asp123Gly)
n.571A>G
12g.52519824T>GCA384929070KRT5c.473A>C (p.Asp158Ala)
c.143A>C (p.Asp48Ala)
c.368A>C (p.Asp123Ala)
n.571A>C
12g.52519824T=CA2036540467KRT5c.473A= (p.Asp158=)
c.143A= (p.Asp48=)
c.368A= (p.Asp123=)
n.571A=
12g.52519825C>ACA16606334KRT5c.472G>T (p.Asp158Tyr)
c.142G>T (p.Asp48Tyr)
c.367G>T (p.Asp123Tyr)
n.570G>T
 ClinVar dbSNP
12g.52519825C=CA2036540468KRT5c.472G= (p.Asp158=)
c.142G= (p.Asp48=)
c.367G= (p.Asp123=)
n.570G=
12g.52519825C>GCA384929074KRT5c.472G>C (p.Asp158His)
c.142G>C (p.Asp48His)
c.367G>C (p.Asp123His)
n.570G>C
12g.52519825C>TCA6582840KRT5c.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
12g.52519826G>ACA6582841KRT5c.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
12g.52519826G>CCA384929076KRT5c.471C>G (p.Ile157Met)
c.141C>G (p.Ile47Met)
c.366C>G (p.Ile122Met)
n.569C>G
12g.52519826G=CA2036540469KRT5c.471C= (p.Ile157=)
c.141C= (p.Ile47=)
c.366C= (p.Ile122=)
n.569C=
12g.52519826G>TCA480070333KRT5c.471C>A (p.Ile157=)
c.141C>A (p.Ile47=)
c.366C>A (p.Ile122=)
n.569C>A
12g.52519827A=CA2036540470KRT5c.470T= (p.Ile157=)
c.140T= (p.Ile47=)
c.365T= (p.Ile122=)
n.568T=
12g.52519827A>CCA384929078KRT5c.470T>G (p.Ile157Ser)
c.140T>G (p.Ile47Ser)
c.365T>G (p.Ile122Ser)
n.568T>G
12g.52519827A>GCA384929080KRT5c.470T>C (p.Ile157Thr)
c.140T>C (p.Ile47Thr)
c.365T>C (p.Ile122Thr)
n.568T>C
 dbSNP
12g.52519827A>TCA384929081KRT5c.470T>A (p.Ile157Asn)
c.140T>A (p.Ile47Asn)
c.365T>A (p.Ile122Asn)
n.568T>A
12g.52519828T>ACA384929084KRT5c.469A>T (p.Ile157Phe)
c.139A>T (p.Ile47Phe)
c.364A>T (p.Ile122Phe)
n.567A>T
12g.52519828T>CCA384929086KRT5c.469A>G (p.Ile157Val)
c.139A>G (p.Ile47Val)
c.364A>G (p.Ile122Val)
n.567A>G
12g.52519828T>GCA384929088KRT5c.469A>C (p.Ile157Leu)
c.139A>C (p.Ile47Leu)
c.364A>C (p.Ile122Leu)
n.567A>C
12g.52519829T>ACA384929092KRT5c.468A>T (p.Gln156His)
c.138A>T (p.Gln46His)
c.363A>T (p.Gln121His)
n.566A>T
12g.52519829T>CCA480070334KRT5c.468A>G (p.Gln156=)
c.138A>G (p.Gln46=)
c.363A>G (p.Gln121=)
n.566A>G
12g.52519829T>GCA384929090KRT5c.468A>C (p.Gln156His)
c.138A>C (p.Gln46His)
c.363A>C (p.Gln121His)
n.566A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52519829T=CA2036540471KRT5c.468A= (p.Gln156=)
c.138A= (p.Gln46=)
c.363A= (p.Gln121=)
n.566A=
12g.52519830T>ACA384929095KRT5c.467A>T (p.Gln156Leu)
c.137A>T (p.Gln46Leu)
c.362A>T (p.Gln121Leu)
n.565A>T
12g.52519830T>CCA384929096KRT5c.467A>G (p.Gln156Arg)
c.137A>G (p.Gln46Arg)
c.362A>G (p.Gln121Arg)
n.565A>G
 gnomAD v4
12g.52519830T>GCA384929098KRT5c.467A>C (p.Gln156Pro)
c.137A>C (p.Gln46Pro)
c.362A>C (p.Gln121Pro)
n.565A>C
12g.52519831G>ACA384929100KRT5c.466C>T (p.Gln156Ter)
c.136C>T (p.Gln46Ter)
c.361C>T (p.Gln121Ter)
n.564C>T
12g.52519831G>CCA384929101KRT5c.466C>G (p.Gln156Glu)
c.136C>G (p.Gln46Glu)
c.361C>G (p.Gln121Glu)
n.564C>G
 gnomAD v4
12g.52519831G>TCA384929103KRT5c.466C>A (p.Gln156Lys)
c.136C>A (p.Gln46Lys)
c.361C>A (p.Gln121Lys)
n.564C>A
12g.52519832C>ACA480070335KRT5c.465G>T (p.Leu155=)
c.135G>T (p.Leu45=)
c.360G>T (p.Leu120=)
n.563G>T
12g.52519832C=CA2036540472KRT5c.465G= (p.Leu155=)
c.135G= (p.Leu45=)
c.360G= (p.Leu120=)
n.563G=
12g.52519832C>GCA480070336KRT5c.465G>C (p.Leu155=)
c.135G>C (p.Leu45=)
c.360G>C (p.Leu120=)
n.563G>C
 dbSNP gnomAD v2 gnomAD v4
12g.52519832C>TCA480070337KRT5c.465G>A (p.Leu155=)
c.135G>A (p.Leu45=)
c.360G>A (p.Leu120=)
n.563G>A
 ClinVar dbSNP gnomAD v4
12g.52519833A>CCA384929108KRT5c.464T>G (p.Leu155Arg)
c.134T>G (p.Leu45Arg)
c.359T>G (p.Leu120Arg)
n.562T>G
12g.52519833A>GCA384929106KRT5c.464T>C (p.Leu155Pro)
c.134T>C (p.Leu45Pro)
c.359T>C (p.Leu120Pro)
n.562T>C
12g.52519833A>TCA384929105KRT5c.464T>A (p.Leu155Gln)
c.134T>A (p.Leu45Gln)
c.359T>A (p.Leu120Gln)
n.562T>A
 ClinVar
12g.52519834G>ACA480070338KRT5c.463C>T (p.Leu155=)
c.133C>T (p.Leu45=)
c.358C>T (p.Leu120=)
n.561C>T
12g.52519834G>CCA384929110KRT5c.463C>G (p.Leu155Val)
c.133C>G (p.Leu45Val)
c.358C>G (p.Leu120Val)
n.561C>G
12g.52519834G=CA2036540473KRT5c.463C= (p.Leu155=)
c.133C= (p.Leu45=)
c.358C= (p.Leu120=)
n.561C=
12g.52519834G>TCA384929111KRT5c.463C>A (p.Leu155Met)
c.133C>A (p.Leu45Met)
c.358C>A (p.Leu120Met)
n.561C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52519835G>ACA480070339KRT5c.462C>T (p.Asn154=)
c.132C>T (p.Asn44=)
c.357C>T (p.Asn119=)
n.560C>T
 dbSNP gnomAD v2 gnomAD v4
12g.52519835G>CCA384929113KRT5c.462C>G (p.Asn154Lys)
c.132C>G (p.Asn44Lys)
c.357C>G (p.Asn119Lys)
n.560C>G
12g.52519835G=CA2036540474KRT5c.462C= (p.Asn154=)
c.132C= (p.Asn44=)
c.357C= (p.Asn119=)
n.560C=
12g.52519835G>TCA384929115KRT5c.462C>A (p.Asn154Lys)
c.132C>A (p.Asn44Lys)
c.357C>A (p.Asn119Lys)
n.560C>A
12g.52519836T>ACA384929117KRT5c.461A>T (p.Asn154Ile)
c.131A>T (p.Asn44Ile)
c.356A>T (p.Asn119Ile)
n.559A>T
12g.52519836T>CCA384929119KRT5c.461A>G (p.Asn154Ser)
c.131A>G (p.Asn44Ser)
c.356A>G (p.Asn119Ser)
n.559A>G
12g.52519836T>GCA384929121KRT5c.461A>C (p.Asn154Thr)
c.131A>C (p.Asn44Thr)
c.356A>C (p.Asn119Thr)
n.559A>C
12g.52519837T>ACA384929123KRT5c.460A>T (p.Asn154Tyr)
c.130A>T (p.Asn44Tyr)
c.355A>T (p.Asn119Tyr)
n.558A>T
12g.52519837T>CCA384929126KRT5c.460A>G (p.Asn154Asp)
c.130A>G (p.Asn44Asp)
c.355A>G (p.Asn119Asp)
n.558A>G
12g.52519837T>GCA384929124KRT5c.460A>C (p.Asn154His)
c.130A>C (p.Asn44His)
c.355A>C (p.Asn119His)
n.558A>C
12g.52519838G>ACA480070340KRT5c.459C>T (p.Leu153=)
c.129C>T (p.Leu43=)
c.354C>T (p.Leu118=)
n.557C>T
12g.52519838G>CCA480070341KRT5c.459C>G (p.Leu153=)
c.129C>G (p.Leu43=)
c.354C>G (p.Leu118=)
n.557C>G
12g.52519838G>TCA480070342KRT5c.459C>A (p.Leu153=)
c.129C>A (p.Leu43=)
c.354C>A (p.Leu118=)
n.557C>A
12g.52519839A=CA2036540475KRT5c.458T= (p.Leu153=)
c.128T= (p.Leu43=)
c.353T= (p.Leu118=)
n.556T=
12g.52519839A>CCA384929128KRT5c.458T>G (p.Leu153Arg)
c.128T>G (p.Leu43Arg)
c.353T>G (p.Leu118Arg)
n.556T>G
12g.52519839A>GCA384929129KRT5c.458T>C (p.Leu153Pro)
c.128T>C (p.Leu43Pro)
c.353T>C (p.Leu118Pro)
n.556T>C
 dbSNP gnomAD v2 gnomAD v4
12g.52519839A>TCA384929130KRT5c.458T>A (p.Leu153His)
c.128T>A (p.Leu43His)
c.353T>A (p.Leu118His)
n.556T>A
12g.52519840G>ACA384929131KRT5c.457C>T (p.Leu153Phe)
c.127C>T (p.Leu43Phe)
c.352C>T (p.Leu118Phe)
n.555C>T
 gnomAD v4
12g.52519840G>CCA384929132KRT5c.457C>G (p.Leu153Val)
c.127C>G (p.Leu43Val)
c.352C>G (p.Leu118Val)
n.555C>G
12g.52519840G>TCA384929133KRT5c.457C>A (p.Leu153Ile)
c.127C>A (p.Leu43Ile)
c.352C>A (p.Leu118Ile)
n.555C>A
12g.52519841G>ACA480070343KRT5c.456C>T (p.Pro152=)
c.126C>T (p.Pro42=)
c.351C>T (p.Pro117=)
n.554C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52519841G>CCA480070344KRT5c.456C>G (p.Pro152=)
c.126C>G (p.Pro42=)
c.351C>G (p.Pro117=)
n.554C>G
12g.52519841G=CA2036540476KRT5c.456C= (p.Pro152=)
c.126C= (p.Pro42=)
c.351C= (p.Pro117=)
n.554C=
12g.52519841G>TCA480070345KRT5c.456C>A (p.Pro152=)
c.126C>A (p.Pro42=)
c.351C>A (p.Pro117=)
n.554C>A

Number of alleles fetched