Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52519865_52519870delCA2573105837KRT5c.431_436del (p.Thr144_Val145del)
c.101_106del (p.Thr34_Val35del)
c.326_331del (p.Thr109_Val110del)
n.529_534del
12g.52519868G>ACA480070363KRT5c.429C>T (p.Val143=)
c.99C>T (p.Val33=)
c.324C>T (p.Val108=)
n.527C>T
 dbSNP
12g.52519868G>CCA480070364KRT5c.429C>G (p.Val143=)
c.99C>G (p.Val33=)
c.324C>G (p.Val108=)
n.527C>G
12g.52519868G=CA2036540489KRT5c.429C= (p.Val143=)
c.99C= (p.Val33=)
c.324C= (p.Val108=)
n.527C=
12g.52519868G>TCA480070365KRT5c.429C>A (p.Val143=)
c.99C>A (p.Val33=)
c.324C>A (p.Val108=)
n.527C>A
12g.52519869A=CA2036540490KRT5c.428T= (p.Val143=)
c.98T= (p.Val33=)
c.323T= (p.Val108=)
n.526T=
12g.52519869A>CCA384929275KRT5c.428T>G (p.Val143Gly)
c.98T>G (p.Val33Gly)
c.323T>G (p.Val108Gly)
n.526T>G
 gnomAD v4
12g.52519869A>GCA216713KRT5c.428T>C (p.Val143Ala)
c.98T>C (p.Val33Ala)
c.323T>C (p.Val108Ala)
n.526T>C
 ClinVar dbSNP gnomAD v4
12g.52519869A>TCA216712KRT5c.428T>A (p.Val143Asp)
c.98T>A (p.Val33Asp)
c.323T>A (p.Val108Asp)
n.526T>A
 ClinVar dbSNP
12g.52519870C>ACA216710KRT5c.427G>T (p.Val143Phe)
c.97G>T (p.Val33Phe)
c.322G>T (p.Val108Phe)
n.525G>T
 ClinVar dbSNP
12g.52519870C=CA2036540491KRT5c.427G= (p.Val143=)
c.97G= (p.Val33=)
c.322G= (p.Val108=)
n.525G=
12g.52519870C>GCA384929276KRT5c.427G>C (p.Val143Leu)
c.97G>C (p.Val33Leu)
c.322G>C (p.Val108Leu)
n.525G>C
12g.52519870C>TCA384929277KRT5c.427G>A (p.Val143Ile)
c.97G>A (p.Val33Ile)
c.322G>A (p.Val108Ile)
n.525G>A
 gnomAD v4
12g.52519871C>ACA384929278KRT5c.426G>T (p.Glu142Asp)
c.96G>T (p.Glu32Asp)
c.321G>T (p.Glu107Asp)
n.524G>T
12g.52519871C>GCA384929281KRT5c.426G>C (p.Glu142Asp)
c.96G>C (p.Glu32Asp)
c.321G>C (p.Glu107Asp)
n.524G>C
12g.52519871C>TCA480070366KRT5c.426G>A (p.Glu142=)
c.96G>A (p.Glu32=)
c.321G>A (p.Glu107=)
n.524G>A
12g.52519872T>ACA384929284KRT5c.425A>T (p.Glu142Val)
c.95A>T (p.Glu32Val)
c.320A>T (p.Glu107Val)
n.523A>T
12g.52519872T>CCA384929285KRT5c.425A>G (p.Glu142Gly)
c.95A>G (p.Glu32Gly)
c.320A>G (p.Glu107Gly)
n.523A>G
12g.52519872T>GCA384929289KRT5c.425A>C (p.Glu142Ala)
c.95A>C (p.Glu32Ala)
c.320A>C (p.Glu107Ala)
n.523A>C
 dbSNP
12g.52519872T=CA2036540492KRT5c.425A= (p.Glu142=)
c.95A= (p.Glu32=)
c.320A= (p.Glu107=)
n.523A=
12g.52519873C>ACA384929293KRT5c.424G>T (p.Glu142Ter)
c.94G>T (p.Glu32Ter)
c.319G>T (p.Glu107Ter)
n.522G>T
12g.52519873C=CA2036540493KRT5c.424G= (p.Glu142=)
c.94G= (p.Glu32=)
c.319G= (p.Glu107=)
n.522G=
12g.52519873C>GCA237229137KRT5c.424G>C (p.Glu142Gln)
c.94G>C (p.Glu32Gln)
c.319G>C (p.Glu107Gln)
n.522G>C
 dbSNP gnomAD v2 gnomAD v4
12g.52519873C>TCA384929291KRT5c.424G>A (p.Glu142Lys)
c.94G>A (p.Glu32Lys)
c.319G>A (p.Glu107Lys)
n.522G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.52519874T>ACA384929296KRT5c.423A>T (p.Gln141His)
c.93A>T (p.Gln31His)
c.318A>T (p.Gln106His)
n.521A>T
12g.52519874T>CCA480070367KRT5c.423A>G (p.Gln141=)
c.93A>G (p.Gln31=)
c.318A>G (p.Gln106=)
n.521A>G
 dbSNP
12g.52519874T>GCA384929298KRT5c.423A>C (p.Gln141His)
c.93A>C (p.Gln31His)
c.318A>C (p.Gln106His)
n.521A>C
12g.52519874T=CA2036540494KRT5c.423A= (p.Gln141=)
c.93A= (p.Gln31=)
c.318A= (p.Gln106=)
n.521A=
12g.52519875T>ACA384929304KRT5c.422A>T (p.Gln141Leu)
c.92A>T (p.Gln31Leu)
c.317A>T (p.Gln106Leu)
n.520A>T
12g.52519875T>CCA384929305KRT5c.422A>G (p.Gln141Arg)
c.92A>G (p.Gln31Arg)
c.317A>G (p.Gln106Arg)
n.520A>G
 dbSNP gnomAD v4
12g.52519875T>GCA384929306KRT5c.422A>C (p.Gln141Pro)
c.92A>C (p.Gln31Pro)
c.317A>C (p.Gln106Pro)
n.520A>C
12g.52519875T=CA2036540495KRT5c.422A= (p.Gln141=)
c.92A= (p.Gln31=)
c.317A= (p.Gln106=)
n.520A=
12g.52519876G>ACA384929309KRT5c.421C>T (p.Gln141Ter)
c.91C>T (p.Gln31Ter)
c.316C>T (p.Gln106Ter)
n.519C>T
 gnomAD v4
12g.52519876G>CCA384929311KRT5c.421C>G (p.Gln141Glu)
c.91C>G (p.Gln31Glu)
c.316C>G (p.Gln106Glu)
n.519C>G
12g.52519876G>TCA384929312KRT5c.421C>A (p.Gln141Lys)
c.91C>A (p.Gln31Lys)
c.316C>A (p.Gln106Lys)
n.519C>A
12g.52519877G>ACA480070368KRT5c.420C>T (p.Ile140=)
c.90C>T (p.Ile30=)
c.315C>T (p.Ile105=)
n.518C>T
 gnomAD v4
12g.52519877G>CCA384929313KRT5c.420C>G (p.Ile140Met)
c.90C>G (p.Ile30Met)
c.315C>G (p.Ile105Met)
n.518C>G
12g.52519877G>TCA480070369KRT5c.420C>A (p.Ile140=)
c.90C>A (p.Ile30=)
c.315C>A (p.Ile105=)
n.518C>A
12g.52519878A=CA2036540496KRT5c.419T= (p.Ile140=)
c.89T= (p.Ile30=)
c.314T= (p.Ile105=)
n.517T=
12g.52519878A>CCA384929314KRT5c.419T>G (p.Ile140Ser)
c.89T>G (p.Ile30Ser)
c.314T>G (p.Ile105Ser)
n.517T>G
12g.52519878A>GCA384929315KRT5c.419T>C (p.Ile140Thr)
c.89T>C (p.Ile30Thr)
c.314T>C (p.Ile105Thr)
n.517T>C
12g.52519878A>TCA384929318KRT5c.419T>A (p.Ile140Asn)
c.89T>A (p.Ile30Asn)
c.314T>A (p.Ile105Asn)
n.517T>A
12g.52519879T>ACA384929327KRT5c.418A>T (p.Ile140Phe)
c.88A>T (p.Ile30Phe)
c.313A>T (p.Ile105Phe)
n.516A>T
12g.52519879T>CCA384929321KRT5c.418A>G (p.Ile140Val)
c.88A>G (p.Ile30Val)
c.313A>G (p.Ile105Val)
n.516A>G
12g.52519879T>GCA384929324KRT5c.418A>C (p.Ile140Leu)
c.88A>C (p.Ile30Leu)
c.313A>C (p.Ile105Leu)
n.516A>C
12g.52519879dupCA216709KRT5c.418dup (p.Ile140AsnfsTer?)
c.88dup (p.Ile30AsnfsTer?)
c.313dup (p.Ile105AsnfsTer?)
n.516dup
 ClinVar dbSNP
12g.52519880A=CA2036540497KRT5c.417T= (p.Gly139=)
c.87T= (p.Gly29=)
c.312T= (p.Gly104=)
n.515T=
12g.52519880A>CCA480070370KRT5c.417T>G (p.Gly139=)
c.87T>G (p.Gly29=)
c.312T>G (p.Gly104=)
n.515T>G
 dbSNP
12g.52519880A>GCA480070372KRT5c.417T>C (p.Gly139=)
c.87T>C (p.Gly29=)
c.312T>C (p.Gly104=)
n.515T>C
 dbSNP gnomAD v3 gnomAD v4
12g.52519880A>TCA480070371KRT5c.417T>A (p.Gly139=)
c.87T>A (p.Gly29=)
c.312T>A (p.Gly104=)
n.515T>A
12g.52519881C>ACA384929331KRT5c.416G>T (p.Gly139Val)
c.86G>T (p.Gly29Val)
c.311G>T (p.Gly104Val)
n.514G>T
12g.52519881C=CA2036540498KRT5c.416G= (p.Gly139=)
c.86G= (p.Gly29=)
c.311G= (p.Gly104=)
n.514G=
12g.52519881C>GCA384929335KRT5c.416G>C (p.Gly139Ala)
c.86G>C (p.Gly29Ala)
c.311G>C (p.Gly104Ala)
n.514G>C
12g.52519881C>TCA237229143KRT5c.416G>A (p.Gly139Asp)
c.86G>A (p.Gly29Asp)
c.311G>A (p.Gly104Asp)
n.514G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52519882C>ACA384929340KRT5c.415G>T (p.Gly139Cys)
c.85G>T (p.Gly29Cys)
c.310G>T (p.Gly104Cys)
n.513G>T
12g.52519882C=CA2036540499KRT5c.415G= (p.Gly139=)
c.85G= (p.Gly29=)
c.310G= (p.Gly104=)
n.513G=
12g.52519882C>GCA384929342KRT5c.415G>C (p.Gly139Arg)
c.85G>C (p.Gly29Arg)
c.310G>C (p.Gly104Arg)
n.513G>C
12g.52519882C>TCA384929343KRT5c.415G>A (p.Gly139Ser)
c.85G>A (p.Gly29Ser)
c.310G>A (p.Gly104Ser)
n.513G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.52519883T>ACA480070373KRT5c.414A>T (p.Gly138=)
c.84A>T (p.Gly28=)
c.309A>T (p.Gly103=)
n.512A>T
12g.52519883T>CCA480070374KRT5c.414A>G (p.Gly138=)
c.84A>G (p.Gly28=)
c.309A>G (p.Gly103=)
n.512A>G
12g.52519883T>GCA480070375KRT5c.414A>C (p.Gly138=)
c.84A>C (p.Gly28=)
c.309A>C (p.Gly103=)
n.512A>C
12g.52519884C>ACA384929346KRT5c.413G>T (p.Gly138Val)
c.83G>T (p.Gly28Val)
c.308G>T (p.Gly103Val)
n.511G>T
 gnomAD v4
12g.52519884C=CA2036540500KRT5c.413G= (p.Gly138=)
c.83G= (p.Gly28=)
c.308G= (p.Gly103=)
n.511G=
12g.52519884C>GCA384929349KRT5c.413G>C (p.Gly138Ala)
c.83G>C (p.Gly28Ala)
c.308G>C (p.Gly103Ala)
n.511G>C
12g.52519884C>TCA216707KRT5c.413G>A (p.Gly138Glu)
c.83G>A (p.Gly28Glu)
c.308G>A (p.Gly103Glu)
n.511G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519885C>ACA384929354KRT5c.412G>T (p.Gly138Ter)
c.82G>T (p.Gly28Ter)
c.307G>T (p.Gly103Ter)
n.510G>T
12g.52519885C>GCA384929356KRT5c.412G>C (p.Gly138Arg)
c.82G>C (p.Gly28Arg)
c.307G>C (p.Gly103Arg)
n.510G>C
12g.52519885C>TCA384929357KRT5c.412G>A (p.Gly138Arg)
c.82G>A (p.Gly28Arg)
c.307G>A (p.Gly103Arg)
n.510G>A
12g.52519886A>CCA480070376KRT5c.411T>G (p.Pro137=)
c.81T>G (p.Pro27=)
c.306T>G (p.Pro102=)
n.509T>G
12g.52519886A>GCA480070377KRT5c.411T>C (p.Pro137=)
c.81T>C (p.Pro27=)
c.306T>C (p.Pro102=)
n.509T>C
12g.52519886A>TCA480070378KRT5c.411T>A (p.Pro137=)
c.81T>A (p.Pro27=)
c.306T>A (p.Pro102=)
n.509T>A
12g.52519887G>ACA384929364KRT5c.410C>T (p.Pro137Leu)
c.80C>T (p.Pro27Leu)
c.305C>T (p.Pro102Leu)
n.508C>T
12g.52519887G>CCA384929359KRT5c.410C>G (p.Pro137Arg)
c.80C>G (p.Pro27Arg)
c.305C>G (p.Pro102Arg)
n.508C>G
12g.52519887G>TCA384929362KRT5c.410C>A (p.Pro137His)
c.80C>A (p.Pro27His)
c.305C>A (p.Pro102His)
n.508C>A
12g.52519888G>ACA6582845KRT5c.409C>T (p.Pro137Ser)
c.79C>T (p.Pro27Ser)
c.304C>T (p.Pro102Ser)
n.507C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.52519888G>CCA6582844KRT5c.409C>G (p.Pro137Ala)
c.79C>G (p.Pro27Ala)
c.304C>G (p.Pro102Ala)
n.507C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519888G=CA2036540501KRT5c.409C= (p.Pro137=)
c.79C= (p.Pro27=)
c.304C= (p.Pro102=)
n.507C=
12g.52519888G>TCA384929368KRT5c.409C>A (p.Pro137Thr)
c.79C>A (p.Pro27Thr)
c.304C>A (p.Pro102Thr)
n.507C>A
12g.52519889A>CCA480070381KRT5c.408T>G (p.Pro136=)
c.78T>G (p.Pro26=)
c.303T>G (p.Pro101=)
n.506T>G
12g.52519889A>GCA480070380KRT5c.408T>C (p.Pro136=)
c.78T>C (p.Pro26=)
c.303T>C (p.Pro101=)
n.506T>C
12g.52519889A>TCA480070379KRT5c.408T>A (p.Pro136=)
c.78T>A (p.Pro26=)
c.303T>A (p.Pro101=)
n.506T>A
12g.52519890G>ACA384929369KRT5c.407C>T (p.Pro136Leu)
c.77C>T (p.Pro26Leu)
c.302C>T (p.Pro101Leu)
n.505C>T
 gnomAD v4
12g.52519890G>CCA384929370KRT5c.407C>G (p.Pro136Arg)
c.77C>G (p.Pro26Arg)
c.302C>G (p.Pro101Arg)
n.505C>G
 dbSNP gnomAD v3 gnomAD v4
12g.52519890G=CA2036540502KRT5c.407C= (p.Pro136=)
c.77C= (p.Pro26=)
c.302C= (p.Pro101=)
n.505C=
12g.52519890G>TCA384929371KRT5c.407C>A (p.Pro136His)
c.77C>A (p.Pro26His)
c.302C>A (p.Pro101His)
n.505C>A
 COSMIC
12g.52519891G>ACA384929374KRT5c.406C>T (p.Pro136Ser)
c.76C>T (p.Pro26Ser)
c.301C>T (p.Pro101Ser)
n.504C>T
12g.52519891G>CCA384929377KRT5c.406C>G (p.Pro136Ala)
c.76C>G (p.Pro26Ala)
c.301C>G (p.Pro101Ala)
n.504C>G
 dbSNP gnomAD v2 gnomAD v4
12g.52519891G=CA2036540503KRT5c.406C= (p.Pro136=)
c.76C= (p.Pro26=)
c.301C= (p.Pro101=)
n.504C=
12g.52519891G>TCA384929378KRT5c.406C>A (p.Pro136Thr)
c.76C>A (p.Pro26Thr)
c.301C>A (p.Pro101Thr)
n.504C>A
 gnomAD v4
12g.52519892G>ACA6582846KRT5c.405C>T (p.Cys135=)
c.75C>T (p.Cys25=)
c.300C>T (p.Cys100=)
n.503C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519892G>CCA384929386KRT5c.405C>G (p.Cys135Trp)
c.75C>G (p.Cys25Trp)
c.300C>G (p.Cys100Trp)
n.503C>G
12g.52519892G=CA2036540504KRT5c.405C= (p.Cys135=)
c.75C= (p.Cys25=)
c.300C= (p.Cys100=)
n.503C=
12g.52519892G>TCA384929387KRT5c.405C>A (p.Cys135Ter)
c.75C>A (p.Cys25Ter)
c.300C>A (p.Cys100Ter)
n.503C>A
12g.52519893C>ACA384929388KRT5c.404G>T (p.Cys135Phe)
c.74G>T (p.Cys25Phe)
c.299G>T (p.Cys100Phe)
n.502G>T
12g.52519893C>GCA384929392KRT5c.404G>C (p.Cys135Ser)
c.74G>C (p.Cys25Ser)
c.299G>C (p.Cys100Ser)
n.502G>C
12g.52519893C>TCA384929394KRT5c.404G>A (p.Cys135Tyr)
c.74G>A (p.Cys25Tyr)
c.299G>A (p.Cys100Tyr)
n.502G>A
12g.52519894A>CCA384929406KRT5c.403T>G (p.Cys135Gly)
c.73T>G (p.Cys25Gly)
c.298T>G (p.Cys100Gly)
n.501T>G
 gnomAD v4
12g.52519894A>GCA384929399KRT5c.403T>C (p.Cys135Arg)
c.73T>C (p.Cys25Arg)
c.298T>C (p.Cys100Arg)
n.501T>C
12g.52519894A>TCA384929401KRT5c.403T>A (p.Cys135Ser)
c.73T>A (p.Cys25Ser)
c.298T>A (p.Cys100Ser)
n.501T>A
12g.52519895G>ACA480070382KRT5c.402C>T (p.Val134=)
c.72C>T (p.Val24=)
c.297C>T (p.Val99=)
n.500C>T
12g.52519895G>CCA480070384KRT5c.402C>G (p.Val134=)
c.72C>G (p.Val24=)
c.297C>G (p.Val99=)
n.500C>G
12g.52519895G>TCA480070383KRT5c.402C>A (p.Val134=)
c.72C>A (p.Val24=)
c.297C>A (p.Val99=)
n.500C>A
12g.52519896A>CCA384929408KRT5c.401T>G (p.Val134Gly)
c.71T>G (p.Val24Gly)
c.296T>G (p.Val99Gly)
n.499T>G
12g.52519896A>GCA384929411KRT5c.401T>C (p.Val134Ala)
c.71T>C (p.Val24Ala)
c.296T>C (p.Val99Ala)
n.499T>C
12g.52519896A>TCA384929412KRT5c.401T>A (p.Val134Asp)
c.71T>A (p.Val24Asp)
c.296T>A (p.Val99Asp)
n.499T>A
12g.52519897C>ACA384929415KRT5c.400G>T (p.Val134Phe)
c.70G>T (p.Val24Phe)
c.295G>T (p.Val99Phe)
n.498G>T
12g.52519897C=CA2036540505KRT5c.400G= (p.Val134=)
c.70G= (p.Val24=)
c.295G= (p.Val99=)
n.498G=
12g.52519897C>GCA384929416KRT5c.400G>C (p.Val134Leu)
c.70G>C (p.Val24Leu)
c.295G>C (p.Val99Leu)
n.498G>C
 dbSNP gnomAD v3 gnomAD v4
12g.52519897C>TCA384929421KRT5c.400G>A (p.Val134Ile)
c.70G>A (p.Val24Ile)
c.295G>A (p.Val99Ile)
n.498G>A
12g.52519898delCA2795997911KRT5c.399del (p.Val134SerfsTer17)
c.69del (p.Val24SerfsTer17)
c.294del (p.Val99SerfsTer17)
n.497del
12g.52519898A>CCA480070385KRT5c.399T>G (p.Pro133=)
c.69T>G (p.Pro23=)
c.294T>G (p.Pro98=)
n.497T>G
12g.52519898A>GCA480070386KRT5c.399T>C (p.Pro133=)
c.69T>C (p.Pro23=)
c.294T>C (p.Pro98=)
n.497T>C
12g.52519898A>TCA480070387KRT5c.399T>A (p.Pro133=)
c.69T>A (p.Pro23=)
c.294T>A (p.Pro98=)
n.497T>A
12g.52519899G>ACA384929422KRT5c.398C>T (p.Pro133Leu)
c.68C>T (p.Pro23Leu)
c.293C>T (p.Pro98Leu)
n.496C>T
 gnomAD v4
12g.52519899G>CCA384929430KRT5c.398C>G (p.Pro133Arg)
c.68C>G (p.Pro23Arg)
c.293C>G (p.Pro98Arg)
n.496C>G
12g.52519899G>TCA384929433KRT5c.398C>A (p.Pro133His)
c.68C>A (p.Pro23His)
c.293C>A (p.Pro98His)
n.496C>A
12g.52519900G>ACA384929435KRT5c.397C>T (p.Pro133Ser)
c.67C>T (p.Pro23Ser)
c.292C>T (p.Pro98Ser)
n.495C>T
 COSMIC
12g.52519900G>CCA384929437KRT5c.397C>G (p.Pro133Ala)
c.67C>G (p.Pro23Ala)
c.292C>G (p.Pro98Ala)
n.495C>G
12g.52519900G>TCA384929440KRT5c.397C>A (p.Pro133Thr)
c.67C>A (p.Pro23Thr)
c.292C>A (p.Pro98Thr)
n.495C>A
12g.52519901A>CCA384929444KRT5c.396T>G (p.Phe132Leu)
c.66T>G (p.Phe22Leu)
c.291T>G (p.Phe97Leu)
n.494T>G
12g.52519901A>GCA480070388KRT5c.396T>C (p.Phe132=)
c.66T>C (p.Phe22=)
c.291T>C (p.Phe97=)
n.494T>C
12g.52519901A>TCA384929445KRT5c.396T>A (p.Phe132Leu)
c.66T>A (p.Phe22Leu)
c.291T>A (p.Phe97Leu)
n.494T>A
12g.52519902A>CCA384929449KRT5c.395T>G (p.Phe132Cys)
c.65T>G (p.Phe22Cys)
c.290T>G (p.Phe97Cys)
n.493T>G
12g.52519902A>GCA384929451KRT5c.395T>C (p.Phe132Ser)
c.65T>C (p.Phe22Ser)
c.290T>C (p.Phe97Ser)
n.493T>C
12g.52519902A>TCA384929453KRT5c.395T>A (p.Phe132Tyr)
c.65T>A (p.Phe22Tyr)
c.290T>A (p.Phe97Tyr)
n.493T>A
12g.52519903A>CCA384929455KRT5c.394T>G (p.Phe132Val)
c.64T>G (p.Phe22Val)
c.289T>G (p.Phe97Val)
n.492T>G
12g.52519903A>GCA384929456KRT5c.394T>C (p.Phe132Leu)
c.64T>C (p.Phe22Leu)
c.289T>C (p.Phe97Leu)
n.492T>C
12g.52519903A>TCA384929458KRT5c.394T>A (p.Phe132Ile)
c.64T>A (p.Phe22Ile)
c.289T>A (p.Phe97Ile)
n.492T>A
12g.52519904G>ACA480070389KRT5c.393C>T (p.Gly131=)
c.63C>T (p.Gly21=)
c.288C>T (p.Gly96=)
n.491C>T
12g.52519904G>CCA480070390KRT5c.393C>G (p.Gly131=)
c.63C>G (p.Gly21=)
c.288C>G (p.Gly96=)
n.491C>G
12g.52519904G>TCA480070391KRT5c.393C>A (p.Gly131=)
c.63C>A (p.Gly21=)
c.288C>A (p.Gly96=)
n.491C>A
12g.52519905C>ACA384929459KRT5c.392G>T (p.Gly131Val)
c.62G>T (p.Gly21Val)
c.287G>T (p.Gly96Val)
n.490G>T
12g.52519905C>GCA384929462KRT5c.392G>C (p.Gly131Ala)
c.62G>C (p.Gly21Ala)
c.287G>C (p.Gly96Ala)
n.490G>C
12g.52519905C>TCA384929464KRT5c.392G>A (p.Gly131Asp)
c.62G>A (p.Gly21Asp)
c.287G>A (p.Gly96Asp)
n.490G>A
12g.52519906C>ACA384929468KRT5c.391G>T (p.Gly131Cys)
c.61G>T (p.Gly21Cys)
c.286G>T (p.Gly96Cys)
n.489G>T
12g.52519906C>GCA384929477KRT5c.391G>C (p.Gly131Arg)
c.61G>C (p.Gly21Arg)
c.286G>C (p.Gly96Arg)
n.489G>C
12g.52519906C>TCA384929482KRT5c.391G>A (p.Gly131Ser)
c.61G>A (p.Gly21Ser)
c.286G>A (p.Gly96Ser)
n.489G>A
12g.52519907A>CCA480070392KRT5c.390T>G (p.Pro130=)
c.60T>G (p.Pro20=)
c.285T>G (p.Pro95=)
n.488T>G
12g.52519907A>GCA480070393KRT5c.390T>C (p.Pro130=)
c.60T>C (p.Pro20=)
c.285T>C (p.Pro95=)
n.488T>C
12g.52519907A>TCA480070394KRT5c.390T>A (p.Pro130=)
c.60T>A (p.Pro20=)
c.285T>A (p.Pro95=)
n.488T>A
12g.52519908G>ACA384929487KRT5c.389C>T (p.Pro130Leu)
c.59C>T (p.Pro20Leu)
c.284C>T (p.Pro95Leu)
n.487C>T
 dbSNP gnomAD v3 gnomAD v4
12g.52519908G>CCA384929490KRT5c.389C>G (p.Pro130Arg)
c.59C>G (p.Pro20Arg)
c.284C>G (p.Pro95Arg)
n.487C>G
12g.52519908G=CA2036540506KRT5c.389C= (p.Pro130=)
c.59C= (p.Pro20=)
c.284C= (p.Pro95=)
n.487C=
12g.52519908G>TCA384929485KRT5c.389C>A (p.Pro130His)
c.59C>A (p.Pro20His)
c.284C>A (p.Pro95His)
n.487C>A
12g.52519909G>ACA384929492KRT5c.388C>T (p.Pro130Ser)
c.58C>T (p.Pro20Ser)
c.283C>T (p.Pro95Ser)
n.486C>T
12g.52519909G>CCA384929493KRT5c.388C>G (p.Pro130Ala)
c.58C>G (p.Pro20Ala)
c.283C>G (p.Pro95Ala)
n.486C>G
12g.52519909G>TCA384929497KRT5c.388C>A (p.Pro130Thr)
c.58C>A (p.Pro20Thr)
c.283C>A (p.Pro95Thr)
n.486C>A
12g.52519909_52519939delinsGGCCACCGAAGCCACCTCCAAAGCCAGCTCCCA2036540507KRT5c.358_388delinsGGAGCTGGCTTTGGAGGTGGCTTCGGTGGCC (p.Gly120=)
c.44-16_58delinsGGAGCTGGCTTTGGAGGTGGCTTCGGTGGCC
c.253_283delinsGGAGCTGGCTTTGGAGGTGGCTTCGGTGGCC (p.Gly85=)
n.456_486delinsGGAGCTGGCTTTGGAGGTGGCTTCGGTGGCC
12g.52519910G>ACA480070397KRT5c.387C>T (p.Gly129=)
c.57C>T (p.Gly19=)
c.282C>T (p.Gly94=)
n.485C>T
12g.52519910G>CCA480070396KRT5c.387C>G (p.Gly129=)
c.57C>G (p.Gly19=)
c.282C>G (p.Gly94=)
n.485C>G
12g.52519910G>TCA480070395KRT5c.387C>A (p.Gly129=)
c.57C>A (p.Gly19=)
c.282C>A (p.Gly94=)
n.485C>A
12g.52519918_52519947delCA6582847KRT5c.358_387del (p.Gly120_Gly129del)
c.44-16_57del
c.253_282del (p.Gly85_Gly94del)
n.456_485del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519911C>ACA6582848KRT5c.386G>T (p.Gly129Val)
c.56G>T (p.Gly19Val)
c.281G>T (p.Gly94Val)
n.484G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519911C=CA2036540508KRT5c.386G= (p.Gly129=)
c.56G= (p.Gly19=)
c.281G= (p.Gly94=)
n.484G=
12g.52519911C>GCA384929514KRT5c.386G>C (p.Gly129Ala)
c.56G>C (p.Gly19Ala)
c.281G>C (p.Gly94Ala)
n.484G>C
12g.52519911C>TCA384929507KRT5c.386G>A (p.Gly129Asp)
c.56G>A (p.Gly19Asp)
c.281G>A (p.Gly94Asp)
n.484G>A
 COSMIC
12g.52519912C>ACA384929518KRT5c.385G>T (p.Gly129Cys)
c.55G>T (p.Gly19Cys)
c.280G>T (p.Gly94Cys)
n.483G>T
12g.52519912C>GCA384929520KRT5c.385G>C (p.Gly129Arg)
c.55G>C (p.Gly19Arg)
c.280G>C (p.Gly94Arg)
n.483G>C
12g.52519912C>TCA384929521KRT5c.385G>A (p.Gly129Ser)
c.55G>A (p.Gly19Ser)
c.280G>A (p.Gly94Ser)
n.483G>A
 gnomAD v4 COSMIC
12g.52519913A>CCA480070398KRT5c.384T>G (p.Gly128=)
c.54T>G (p.Gly18=)
c.279T>G (p.Gly93=)
n.482T>G
12g.52519913A>GCA480070399KRT5c.384T>C (p.Gly128=)
c.54T>C (p.Gly18=)
c.279T>C (p.Gly93=)
n.482T>C
 COSMIC
12g.52519913A>TCA480070400KRT5c.384T>A (p.Gly128=)
c.54T>A (p.Gly18=)
c.279T>A (p.Gly93=)
n.482T>A
12g.52519914C>ACA384929522KRT5c.383G>T (p.Gly128Val)
c.53G>T (p.Gly18Val)
c.278G>T (p.Gly93Val)
n.481G>T
12g.52519914C>GCA384929523KRT5c.383G>C (p.Gly128Ala)
c.53G>C (p.Gly18Ala)
c.278G>C (p.Gly93Ala)
n.481G>C
12g.52519914C>TCA384929525KRT5c.383G>A (p.Gly128Asp)
c.53G>A (p.Gly18Asp)
c.278G>A (p.Gly93Asp)
n.481G>A
12g.52519915C>ACA384929532KRT5c.382G>T (p.Gly128Cys)
c.52G>T (p.Gly18Cys)
c.277G>T (p.Gly93Cys)
n.480G>T
12g.52519915C=CA2036540509KRT5c.382G= (p.Gly128=)
c.52G= (p.Gly18=)
c.277G= (p.Gly93=)
n.480G=
12g.52519915C>GCA216705KRT5c.382G>C (p.Gly128Arg)
c.52G>C (p.Gly18Arg)
c.277G>C (p.Gly93Arg)
n.480G>C
 ClinVar dbSNP
12g.52519915C>TCA6582849KRT5c.382G>A (p.Gly128Ser)
c.52G>A (p.Gly18Ser)
c.277G>A (p.Gly93Ser)
n.480G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519916G>ACA6582850KRT5c.381C>T (p.Phe127=)
c.51C>T (p.Phe17=)
c.276C>T (p.Phe92=)
n.479C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519916G>CCA384929534KRT5c.381C>G (p.Phe127Leu)
c.51C>G (p.Phe17Leu)
c.276C>G (p.Phe92Leu)
n.479C>G
12g.52519916G=CA2036540510KRT5c.381C= (p.Phe127=)
c.51C= (p.Phe17=)
c.276C= (p.Phe92=)
n.479C=
12g.52519916G>TCA10633194KRT5c.381C>A (p.Phe127Leu)
c.51C>A (p.Phe17Leu)
c.276C>A (p.Phe92Leu)
n.479C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.52519917A>CCA384929537KRT5c.380T>G (p.Phe127Cys)
c.50T>G (p.Phe17Cys)
c.275T>G (p.Phe92Cys)
n.478T>G
12g.52519917A>GCA384929539KRT5c.380T>C (p.Phe127Ser)
c.50T>C (p.Phe17Ser)
c.275T>C (p.Phe92Ser)
n.478T>C
12g.52519917A>TCA384929538KRT5c.380T>A (p.Phe127Tyr)
c.50T>A (p.Phe17Tyr)
c.275T>A (p.Phe92Tyr)
n.478T>A
12g.52519918A>CCA384929540KRT5c.379T>G (p.Phe127Val)
c.49T>G (p.Phe17Val)
c.274T>G (p.Phe92Val)
n.477T>G
12g.52519918A>GCA384929542KRT5c.379T>C (p.Phe127Leu)
c.49T>C (p.Phe17Leu)
c.274T>C (p.Phe92Leu)
n.477T>C
12g.52519918A>TCA384929545KRT5c.379T>A (p.Phe127Ile)
c.49T>A (p.Phe17Ile)
c.274T>A (p.Phe92Ile)
n.477T>A
12g.52519919G>ACA480070401KRT5c.378C>T (p.Gly126=)
c.48C>T (p.Gly16=)
c.273C>T (p.Gly91=)
n.476C>T
12g.52519919G>CCA480070402KRT5c.378C>G (p.Gly126=)
c.48C>G (p.Gly16=)
c.273C>G (p.Gly91=)
n.476C>G
12g.52519919G>TCA480070403KRT5c.378C>A (p.Gly126=)
c.48C>A (p.Gly16=)
c.273C>A (p.Gly91=)
n.476C>A
12g.52519920C>ACA384929547KRT5c.377G>T (p.Gly126Val)
c.47G>T (p.Gly16Val)
c.272G>T (p.Gly91Val)
n.475G>T
12g.52519920C>GCA384929549KRT5c.377G>C (p.Gly126Ala)
c.47G>C (p.Gly16Ala)
c.272G>C (p.Gly91Ala)
n.475G>C
12g.52519920C>TCA384929551KRT5c.377G>A (p.Gly126Asp)
c.47G>A (p.Gly16Asp)
c.272G>A (p.Gly91Asp)
n.475G>A
12g.52519935_52520012delCA645584189KRT5c.300_377del (p.Ala101_Gly126del)
c.44-74_47del
c.195_272del (p.Ala66_Gly91del)
n.398_475del
 gnomAD v4 COSMIC
12g.52519921C>ACA384929552KRT5c.376G>T (p.Gly126Cys)
c.46G>T (p.Gly16Cys)
c.271G>T (p.Gly91Cys)
n.474G>T
12g.52519921C=CA2036540511KRT5c.376G= (p.Gly126=)
c.46G= (p.Gly16=)
c.271G= (p.Gly91=)
n.474G=
12g.52519921C>GCA384929553KRT5c.376G>C (p.Gly126Arg)
c.46G>C (p.Gly16Arg)
c.271G>C (p.Gly91Arg)
n.474G>C
12g.52519921C>TCA384929554KRT5c.376G>A (p.Gly126Ser)
c.46G>A (p.Gly16Ser)
c.271G>A (p.Gly91Ser)
n.474G>A
 dbSNP gnomAD v3 gnomAD v4
12g.52519922A>CCA480070404KRT5c.375T>G (p.Gly125=)
c.45T>G (p.Arg15=)
c.270T>G (p.Gly90=)
n.473T>G
12g.52519922A>GCA480070405KRT5c.375T>C (p.Gly125=)
c.45T>C (p.Arg15=)
c.270T>C (p.Gly90=)
n.473T>C
12g.52519922A>TCA480070406KRT5c.375T>A (p.Gly125=)
c.45T>A (p.Arg15=)
c.270T>A (p.Gly90=)
n.473T>A
 gnomAD v4
12g.52519923C>ACA384929555KRT5c.374G>T (p.Gly125Val)
c.44G>T (p.Arg15Leu)
c.269G>T (p.Gly90Val)
n.472G>T
12g.52519923C=CA2036540512KRT5c.374G= (p.Gly125=)
c.44G= (p.Arg15=)
c.269G= (p.Gly90=)
n.472G=
12g.52519923C>GCA384929556KRT5c.374G>C (p.Gly125Ala)
c.44G>C (p.Arg15Pro)
c.269G>C (p.Gly90Ala)
n.472G>C
12g.52519923C>TCA384929558KRT5c.374G>A (p.Gly125Asp)
c.44G>A (p.Arg15His)
c.269G>A (p.Gly90Asp)
n.472G>A
 dbSNP
12g.52519924C>ACA384929561KRT5c.373G>T (p.Gly125Cys)
c.44-1G>T (n.44-1G>T)
c.268G>T (p.Gly90Cys)
n.471G>T
 COSMIC
12g.52519924C>GCA384929565KRT5c.373G>C (p.Gly125Arg)
c.44-1G>C (n.44-1G>C)
c.268G>C (p.Gly90Arg)
n.471G>C
12g.52519924C>TCA384929563KRT5c.373G>A (p.Gly125Ser)
c.44-1G>A (n.44-1G>A)
c.268G>A (p.Gly90Ser)
n.471G>A
 gnomAD v4
12g.52519925T>ACA384929566KRT5c.372A>T (p.Gly124=)
c.44-2A>T (n.44-2A>T)
c.267A>T (p.Gly89=)
n.470A>T
12g.52519925T>CCA384929570KRT5c.372A>G (p.Gly124=)
c.44-2A>G (n.44-2A>G)
c.267A>G (p.Gly89=)
n.470A>G
12g.52519925T>GCA384929573KRT5c.372A>C (p.Gly124=)
c.44-2A>C (n.44-2A>C)
c.267A>C (p.Gly89=)
n.470A>C
12g.52519926C>ACA384929574KRT5c.371G>T (p.Gly124Val)
c.44-3G>T (n.44-3G>T)
c.266G>T (p.Gly89Val)
n.469G>T
12g.52519926C>GCA384929577KRT5c.371G>C (p.Gly124Ala)
c.44-3G>C (n.44-3G>C)
c.266G>C (p.Gly89Ala)
n.469G>C
12g.52519926C>TCA384929580KRT5c.371G>A (p.Gly124Glu)
c.44-3G>A (n.44-3G>A)
c.266G>A (p.Gly89Glu)
n.469G>A
12g.52519927C>ACA384929582KRT5c.370G>T (p.Gly124Ter)
c.44-4G>T (n.44-4G>T)
c.265G>T (p.Gly89Ter)
n.468G>T
12g.52519927C>GCA384929584KRT5c.370G>C (p.Gly124Arg)
c.44-4G>C (n.44-4G>C)
c.265G>C (p.Gly89Arg)
n.468G>C
12g.52519927C>TCA384929586KRT5c.370G>A (p.Gly124Arg)
c.44-4G>A (n.44-4G>A)
c.265G>A (p.Gly89Arg)
n.468G>A
 gnomAD v4
12g.52519928A>CCA384929594KRT5c.369T>G (p.Phe123Leu)
c.44-5T>G (n.44-5T>G)
c.264T>G (p.Phe88Leu)
n.467T>G
12g.52519928A>GCA480070408KRT5c.369T>C (p.Phe123=)
c.44-5T>C (n.44-5T>C)
c.264T>C (p.Phe88=)
n.467T>C
12g.52519928A>TCA384929588KRT5c.369T>A (p.Phe123Leu)
c.44-5T>A (n.44-5T>A)
c.264T>A (p.Phe88Leu)
n.467T>A
12g.52519929A>CCA384929595KRT5c.368T>G (p.Phe123Cys)
c.44-6T>G (n.44-6T>G)
c.263T>G (p.Phe88Cys)
n.466T>G
12g.52519929A>GCA384929602KRT5c.368T>C (p.Phe123Ser)
c.44-6T>C (n.44-6T>C)
c.263T>C (p.Phe88Ser)
n.466T>C
12g.52519929A>TCA384929603KRT5c.368T>A (p.Phe123Tyr)
c.44-6T>A (n.44-6T>A)
c.263T>A (p.Phe88Tyr)
n.466T>A
12g.52519930A>CCA384929606KRT5c.367T>G (p.Phe123Val)
c.44-7T>G (n.44-7T>G)
c.262T>G (p.Phe88Val)
n.465T>G
12g.52519930A>GCA384929610KRT5c.367T>C (p.Phe123Leu)
c.44-7T>C (n.44-7T>C)
c.262T>C (p.Phe88Leu)
n.465T>C
 gnomAD v4
12g.52519930A>TCA384929613KRT5c.367T>A (p.Phe123Ile)
c.44-7T>A (n.44-7T>A)
c.262T>A (p.Phe88Ile)
n.465T>A
12g.52519930_52519939delinsAGCCAGCTCCCA2036540513KRT5c.358_367delinsGGAGCTGGCT (p.Gly120=)
c.44-16_44-7delinsGGAGCTGGCT (n.44-16_44-7delinsGGAGCTGGCT)
c.253_262delinsGGAGCTGGCT (p.Gly85=)
n.456_465delinsGGAGCTGGCT
12g.52519931G>ACA6582852KRT5c.366C>T (p.Gly122=)
c.44-8C>T (n.44-8C>T)
c.261C>T (p.Gly87=)
n.464C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519931G>CCA480070410KRT5c.366C>G (p.Gly122=)
c.44-8C>G (n.44-8C>G)
c.261C>G (p.Gly87=)
n.464C>G
12g.52519931G=CA2036540514KRT5c.366C= (p.Gly122=)
c.44-8C= (n.44-8C=)
c.261C= (p.Gly87=)
n.464C=
12g.52519931G>TCA480070409KRT5c.366C>A (p.Gly122=)
c.44-8C>A (n.44-8C>A)
c.261C>A (p.Gly87=)
n.464C>A
12g.52519935_52519943delCA6582851KRT5c.358_366del (p.Gly120_Gly122del)
c.44-16_44-8del (n.44-16_44-8del)
c.253_261del (p.Gly85_Gly87del)
n.456_464del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519932C>ACA384929619KRT5c.365G>T (p.Gly122Val)
c.44-9G>T (n.44-9G>T)
c.260G>T (p.Gly87Val)
n.463G>T
12g.52519932C=CA2036540515KRT5c.365G= (p.Gly122=)
c.44-9G= (n.44-9G=)
c.260G= (p.Gly87=)
n.463G=
12g.52519932C>GCA384929622KRT5c.365G>C (p.Gly122Ala)
c.44-9G>C (n.44-9G>C)
c.260G>C (p.Gly87Ala)
n.463G>C
 dbSNP
12g.52519932C>TCA384929624KRT5c.365G>A (p.Gly122Asp)
c.44-9G>A (n.44-9G>A)
c.260G>A (p.Gly87Asp)
n.463G>A
 dbSNP gnomAD v2 gnomAD v4
12g.52519933C>ACA384929627KRT5c.364G>T (p.Gly122Cys)
c.44-10G>T (n.44-10G>T)
c.259G>T (p.Gly87Cys)
n.462G>T
12g.52519933C=CA2036540516KRT5c.364G= (p.Gly122=)
c.44-10G= (n.44-10G=)
c.259G= (p.Gly87=)
n.462G=
12g.52519933C>GCA384929629KRT5c.364G>C (p.Gly122Arg)
c.44-10G>C (n.44-10G>C)
c.259G>C (p.Gly87Arg)
n.462G>C
12g.52519933C>TCA6582853KRT5c.364G>A (p.Gly122Ser)
c.44-10G>A (n.44-10G>A)
c.259G>A (p.Gly87Ser)
n.462G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.52519934A>CCA480070412KRT5c.363T>G (p.Ala121=)
c.44-11T>G (n.44-11T>G)
c.258T>G (p.Ala86=)
n.461T>G
12g.52519934A>GCA480070413KRT5c.363T>C (p.Ala121=)
c.44-11T>C (n.44-11T>C)
c.258T>C (p.Ala86=)
n.461T>C
12g.52519934A>TCA480070414KRT5c.363T>A (p.Ala121=)
c.44-11T>A (n.44-11T>A)
c.258T>A (p.Ala86=)
n.461T>A
12g.52519935G>ACA384929634KRT5c.362C>T (p.Ala121Val)
c.44-12C>T (n.44-12C>T)
c.257C>T (p.Ala86Val)
n.460C>T
 dbSNP
12g.52519935G>CCA384929640KRT5c.362C>G (p.Ala121Gly)
c.44-12C>G (n.44-12C>G)
c.257C>G (p.Ala86Gly)
n.460C>G
12g.52519935G=CA2036540517KRT5c.362C= (p.Ala121=)
c.44-12C= (n.44-12C=)
c.257C= (p.Ala86=)
n.460C=
12g.52519935G>TCA384929636KRT5c.362C>A (p.Ala121Asp)
c.44-12C>A (n.44-12C>A)
c.257C>A (p.Ala86Asp)
n.460C>A
 dbSNP
12g.52519936C>ACA237229168KRT5c.361G>T (p.Ala121Ser)
c.44-13G>T (n.44-13G>T)
c.256G>T (p.Ala86Ser)
n.459G>T
 dbSNP
12g.52519936C=CA2036540518KRT5c.361G= (p.Ala121=)
c.44-13G= (n.44-13G=)
c.256G= (p.Ala86=)
n.459G=
12g.52519936C>GCA384929649KRT5c.361G>C (p.Ala121Pro)
c.44-13G>C (n.44-13G>C)
c.256G>C (p.Ala86Pro)
n.459G>C
 gnomAD v4
12g.52519936C>TCA384929651KRT5c.361G>A (p.Ala121Thr)
c.44-13G>A (n.44-13G>A)
c.256G>A (p.Ala86Thr)
n.459G>A
12g.52519937T>ACA480070416KRT5c.360A>T (p.Gly120=)
c.44-14A>T (n.44-14A>T)
c.255A>T (p.Gly85=)
n.458A>T
12g.52519937T>CCA480070418KRT5c.360A>G (p.Gly120=)
c.44-14A>G (n.44-14A>G)
c.255A>G (p.Gly85=)
n.458A>G
 COSMIC
12g.52519937T>GCA480070417KRT5c.360A>C (p.Gly120=)
c.44-14A>C (n.44-14A>C)
c.255A>C (p.Gly85=)
n.458A>C
 dbSNP
12g.52519937T=CA2036540519KRT5c.360A= (p.Gly120=)
c.44-14A= (n.44-14A=)
c.255A= (p.Gly85=)
n.458A=
12g.52519938C>ACA384929655KRT5c.359G>T (p.Gly120Val)
c.44-15G>T (n.44-15G>T)
c.254G>T (p.Gly85Val)
n.457G>T
12g.52519938C>GCA384929657KRT5c.359G>C (p.Gly120Ala)
c.44-15G>C (n.44-15G>C)
c.254G>C (p.Gly85Ala)
n.457G>C
12g.52519938C>TCA384929660KRT5c.359G>A (p.Gly120Glu)
c.44-15G>A (n.44-15G>A)
c.254G>A (p.Gly85Glu)
n.457G>A
12g.52519939C>ACA384929662KRT5c.358G>T (p.Gly120Ter)
c.44-16G>T (n.44-16G>T)
c.253G>T (p.Gly85Ter)
n.456G>T
12g.52519939C=CA2036540520KRT5c.358G= (p.Gly120=)
c.44-16G= (n.44-16G=)
c.253G= (p.Gly85=)
n.456G=
12g.52519939C>GCA384929664KRT5c.358G>C (p.Gly120Arg)
c.44-16G>C (n.44-16G>C)
c.253G>C (p.Gly85Arg)
n.456G>C
12g.52519939C>TCA6582854KRT5c.358G>A (p.Gly120Arg)
c.44-16G>A (n.44-16G>A)
c.253G>A (p.Gly85Arg)
n.456G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519940G>ACA6582855KRT5c.357C>T (p.Gly119=)
c.44-17C>T (n.44-17C>T)
c.252C>T (p.Gly84=)
n.455C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519940G>CCA480070422KRT5c.357C>G (p.Gly119=)
c.44-17C>G (n.44-17C>G)
c.252C>G (p.Gly84=)
n.455C>G
12g.52519940G=CA2036540521KRT5c.357C= (p.Gly119=)
c.44-17C= (n.44-17C=)
c.252C= (p.Gly84=)
n.455C=
12g.52519940G>TCA6582856KRT5c.357C>A (p.Gly119=)
c.44-17C>A (n.44-17C>A)
c.252C>A (p.Gly84=)
n.455C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519941C>ACA384929670KRT5c.356G>T (p.Gly119Val)
c.44-18G>T (n.44-18G>T)
c.251G>T (p.Gly84Val)
n.454G>T
12g.52519941C>GCA384929669KRT5c.356G>C (p.Gly119Ala)
c.44-18G>C (n.44-18G>C)
c.251G>C (p.Gly84Ala)
n.454G>C
12g.52519941C>TCA384929668KRT5c.356G>A (p.Gly119Asp)
c.44-18G>A (n.44-18G>A)
c.251G>A (p.Gly84Asp)
n.454G>A
12g.52519942C>ACA384929676KRT5c.355G>T (p.Gly119Cys)
c.44-19G>T (n.44-19G>T)
c.250G>T (p.Gly84Cys)
n.453G>T
12g.52519942C>GCA384929673KRT5c.355G>C (p.Gly119Arg)
c.44-19G>C (n.44-19G>C)
c.250G>C (p.Gly84Arg)
n.453G>C
12g.52519942C>TCA384929674KRT5c.355G>A (p.Gly119Ser)
c.44-19G>A (n.44-19G>A)
c.250G>A (p.Gly84Ser)
n.453G>A
12g.52519943A=CA2036540522KRT5c.354T= (p.Gly118=)
c.44-20T= (n.44-20T=)
c.249T= (p.Gly83=)
n.452T=
12g.52519943A>CCA480070426KRT5c.354T>G (p.Gly118=)
c.44-20T>G (n.44-20T>G)
c.249T>G (p.Gly83=)
n.452T>G
12g.52519943A>GCA480070427KRT5c.354T>C (p.Gly118=)
c.44-20T>C (n.44-20T>C)
c.249T>C (p.Gly83=)
n.452T>C
12g.52519943A>TCA480070428KRT5c.354T>A (p.Gly118=)
c.44-20T>A (n.44-20T>A)
c.249T>A (p.Gly83=)
n.452T>A
 dbSNP gnomAD v3 gnomAD v4
12g.52519944C>ACA384929677KRT5c.353G>T (p.Gly118Val)
c.44-21G>T (n.44-21G>T)
c.248G>T (p.Gly83Val)
n.451G>T
12g.52519944C=CA2036540523KRT5c.353G= (p.Gly118=)
c.44-21G= (n.44-21G=)
c.248G= (p.Gly83=)
n.451G=
12g.52519944C>GCA384929679KRT5c.353G>C (p.Gly118Ala)
c.44-21G>C (n.44-21G>C)
c.248G>C (p.Gly83Ala)
n.451G>C
12g.52519944C>TCA384929680KRT5c.353G>A (p.Gly118Asp)
c.44-21G>A (n.44-21G>A)
c.248G>A (p.Gly83Asp)
n.451G>A
 dbSNP gnomAD v3 gnomAD v4
12g.52519945C>ACA384929681KRT5c.352G>T (p.Gly118Cys)
c.44-22G>T (n.44-22G>T)
c.247G>T (p.Gly83Cys)
n.450G>T
 gnomAD v4
12g.52519945C=CA2036540524KRT5c.352G= (p.Gly118=)
c.44-22G= (n.44-22G=)
c.247G= (p.Gly83=)
n.450G=
12g.52519945C>GCA6582858KRT5c.352G>C (p.Gly118Arg)
c.44-22G>C (n.44-22G>C)
c.247G>C (p.Gly83Arg)
n.450G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519945C>TCA6582857KRT5c.352G>A (p.Gly118Ser)
c.44-22G>A (n.44-22G>A)
c.247G>A (p.Gly83Ser)
n.450G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519946G>ACA6582859KRT5c.351C>T (p.Leu117=)
c.44-23C>T (n.44-23C>T)
c.246C>T (p.Leu82=)
n.449C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519946G>CCA480070430KRT5c.351C>G (p.Leu117=)
c.44-23C>G (n.44-23C>G)
c.246C>G (p.Leu82=)
n.449C>G
12g.52519946G=CA2036540525KRT5c.351C= (p.Leu117=)
c.44-23C= (n.44-23C=)
c.246C= (p.Leu82=)
n.449C=
12g.52519946G>TCA480070429KRT5c.351C>A (p.Leu117=)
c.44-23C>A (n.44-23C>A)
c.246C>A (p.Leu82=)
n.449C>A
12g.52519947A=CA2036540526KRT5c.350T= (p.Leu117=)
c.44-24T= (n.44-24T=)
c.245T= (p.Leu82=)
n.448T=
12g.52519947A>CCA6582860KRT5c.350T>G (p.Leu117Arg)
c.44-24T>G (n.44-24T>G)
c.245T>G (p.Leu82Arg)
n.448T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52519947A>GCA384929688KRT5c.350T>C (p.Leu117Pro)
c.44-24T>C (n.44-24T>C)
c.245T>C (p.Leu82Pro)
n.448T>C
 gnomAD v4
12g.52519947A>TCA384929691KRT5c.350T>A (p.Leu117His)
c.44-24T>A (n.44-24T>A)
c.245T>A (p.Leu82His)
n.448T>A
12g.52519948G>ACA384929692KRT5c.349C>T (p.Leu117Phe)
c.44-25C>T (n.44-25C>T)
c.244C>T (p.Leu82Phe)
n.447C>T
 dbSNP gnomAD v4
12g.52519948G>CCA384929694KRT5c.349C>G (p.Leu117Val)
c.44-25C>G (n.44-25C>G)
c.244C>G (p.Leu82Val)
n.447C>G
12g.52519948G=CA2036540527KRT5c.349C= (p.Leu117=)
c.44-25C= (n.44-25C=)
c.244C= (p.Leu82=)
n.447C=
12g.52519948G>TCA384929697KRT5c.349C>A (p.Leu117Ile)
c.44-25C>A (n.44-25C>A)
c.244C>A (p.Leu82Ile)
n.447C>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.52519949C>ACA480070432KRT5c.348G>T (p.Gly116=)
c.44-26G>T (n.44-26G>T)
c.243G>T (p.Gly81=)
n.446G>T
12g.52519949C>GCA480070433KRT5c.348G>C (p.Gly116=)
c.44-26G>C (n.44-26G>C)
c.243G>C (p.Gly81=)
n.446G>C
 gnomAD v4
12g.52519949C>TCA480070434KRT5c.348G>A (p.Gly116=)
c.44-26G>A (n.44-26G>A)
c.243G>A (p.Gly81=)
n.446G>A
12g.52519950C>ACA384929703KRT5c.347G>T (p.Gly116Val)
c.44-27G>T (n.44-27G>T)
c.242G>T (p.Gly81Val)
n.445G>T
12g.52519950C=CA2036540528KRT5c.347G= (p.Gly116=)
c.44-27G= (n.44-27G=)
c.242G= (p.Gly81=)
n.445G=
12g.52519950C>GCA384929705KRT5c.347G>C (p.Gly116Ala)
c.44-27G>C (n.44-27G>C)
c.242G>C (p.Gly81Ala)
n.445G>C
12g.52519950C>TCA6582861KRT5c.347G>A (p.Gly116Glu)
c.44-27G>A (n.44-27G>A)
c.242G>A (p.Gly81Glu)
n.445G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519950_52519951insACA645584190KRT5c.346_347insT (p.Gly116ValfsTer?)
c.44-28_44-27insT (n.44-28_44-27insT)
c.241_242insT (p.Gly81ValfsTer?)
n.444_445insT
 COSMIC
12g.52519951C>ACA384929707KRT5c.346G>T (p.Gly116Trp)
c.44-28G>T (n.44-28G>T)
c.241G>T (p.Gly81Trp)
n.444G>T
12g.52519951C>GCA384929708KRT5c.346G>C (p.Gly116Arg)
c.44-28G>C (n.44-28G>C)
c.241G>C (p.Gly81Arg)
n.444G>C
12g.52519951C>TCA384929714KRT5c.346G>A (p.Gly116Arg)
c.44-28G>A (n.44-28G>A)
c.241G>A (p.Gly81Arg)
n.444G>A
12g.52519952A>CCA384929716KRT5c.345T>G (p.Phe115Leu)
c.44-29T>G (n.44-29T>G)
c.240T>G (p.Phe80Leu)
n.443T>G
12g.52519952A>GCA480070437KRT5c.345T>C (p.Phe115=)
c.44-29T>C (n.44-29T>C)
c.240T>C (p.Phe80=)
n.443T>C
12g.52519952A>TCA384929719KRT5c.345T>A (p.Phe115Leu)
c.44-29T>A (n.44-29T>A)
c.240T>A (p.Phe80Leu)
n.443T>A
12g.52519953A=CA2036540529KRT5c.344T= (p.Phe115=)
c.44-30T= (n.44-30T=)
c.239T= (p.Phe80=)
n.442T=
12g.52519953A>CCA384929721KRT5c.344T>G (p.Phe115Cys)
c.44-30T>G (n.44-30T>G)
c.239T>G (p.Phe80Cys)
n.442T>G
12g.52519953A>GCA384929723KRT5c.344T>C (p.Phe115Ser)
c.44-30T>C (n.44-30T>C)
c.239T>C (p.Phe80Ser)
n.442T>C
 dbSNP gnomAD v3 gnomAD v4
12g.52519953A>TCA384929725KRT5c.344T>A (p.Phe115Tyr)
c.44-30T>A (n.44-30T>A)
c.239T>A (p.Phe80Tyr)
n.442T>A
12g.52519954A>CCA384929728KRT5c.343T>G (p.Phe115Val)
c.44-31T>G (n.44-31T>G)
c.238T>G (p.Phe80Val)
n.441T>G
12g.52519954A>GCA384929730KRT5c.343T>C (p.Phe115Leu)
c.44-31T>C (n.44-31T>C)
c.238T>C (p.Phe80Leu)
n.441T>C
12g.52519954A>TCA384929732KRT5c.343T>A (p.Phe115Ile)
c.44-31T>A (n.44-31T>A)
c.238T>A (p.Phe80Ile)
n.441T>A
12g.52519955G>ACA480070441KRT5c.342C>T (p.Gly114=)
c.44-32C>T (n.44-32C>T)
c.237C>T (p.Gly79=)
n.440C>T
12g.52519955G>CCA6582862KRT5c.342C>G (p.Gly114=)
c.44-32C>G (n.44-32C>G)
c.237C>G (p.Gly79=)
n.440C>G
 dbSNP ExAC gnomAD v2
12g.52519955G=CA2036540530KRT5c.342C= (p.Gly114=)
c.44-32C= (n.44-32C=)
c.237C= (p.Gly79=)
n.440C=
12g.52519955G>TCA480070440KRT5c.342C>A (p.Gly114=)
c.44-32C>A (n.44-32C>A)
c.237C>A (p.Gly79=)
n.440C>A
12g.52519956C>ACA384929734KRT5c.341G>T (p.Gly114Val)
c.44-33G>T (n.44-33G>T)
c.236G>T (p.Gly79Val)
n.439G>T
12g.52519956C>GCA384929739KRT5c.341G>C (p.Gly114Ala)
c.44-33G>C (n.44-33G>C)
c.236G>C (p.Gly79Ala)
n.439G>C
12g.52519956C>TCA384929736KRT5c.341G>A (p.Gly114Asp)
c.44-33G>A (n.44-33G>A)
c.236G>A (p.Gly79Asp)
n.439G>A
12g.52519957C>ACA384929742KRT5c.340G>T (p.Gly114Cys)
c.44-34G>T (n.44-34G>T)
c.235G>T (p.Gly79Cys)
n.438G>T
 COSMIC
12g.52519957C=CA2036540531KRT5c.340G= (p.Gly114=)
c.44-34G= (n.44-34G=)
c.235G= (p.Gly79=)
n.438G=
12g.52519957C>GCA384929743KRT5c.340G>C (p.Gly114Arg)
c.44-34G>C (n.44-34G>C)
c.235G>C (p.Gly79Arg)
n.438G>C
12g.52519957C>TCA384929746KRT5c.340G>A (p.Gly114Ser)
c.44-34G>A (n.44-34G>A)
c.235G>A (p.Gly79Ser)
n.438G>A
 dbSNP
12g.52519958A>CCA480070446KRT5c.339T>G (p.Gly113=)
c.44-35T>G (n.44-35T>G)
c.234T>G (p.Gly78=)
n.437T>G
12g.52519958A>GCA480070448KRT5c.339T>C (p.Gly113=)
c.44-35T>C (n.44-35T>C)
c.234T>C (p.Gly78=)
n.437T>C
12g.52519958A>TCA480070449KRT5c.339T>A (p.Gly113=)
c.44-35T>A (n.44-35T>A)
c.234T>A (p.Gly78=)
n.437T>A
12g.52519959C>ACA384929750KRT5c.338G>T (p.Gly113Val)
c.44-36G>T (n.44-36G>T)
c.233G>T (p.Gly78Val)
n.436G>T
12g.52519959C>GCA384929752KRT5c.338G>C (p.Gly113Ala)
c.44-36G>C (n.44-36G>C)
c.233G>C (p.Gly78Ala)
n.436G>C
12g.52519959C>TCA384929754KRT5c.338G>A (p.Gly113Asp)
c.44-36G>A (n.44-36G>A)
c.233G>A (p.Gly78Asp)
n.436G>A
12g.52519960C>ACA384929757KRT5c.337G>T (p.Gly113Cys)
c.44-37G>T (n.44-37G>T)
c.232G>T (p.Gly78Cys)
n.435G>T
12g.52519960C>GCA384929759KRT5c.337G>C (p.Gly113Arg)
c.44-37G>C (n.44-37G>C)
c.232G>C (p.Gly78Arg)
n.435G>C
12g.52519960C>TCA384929762KRT5c.337G>A (p.Gly113Ser)
c.44-37G>A (n.44-37G>A)
c.232G>A (p.Gly78Ser)
n.435G>A
12g.52519961A>CCA480070453KRT5c.336T>G (p.Gly112=)
c.44-38T>G (n.44-38T>G)
c.231T>G (p.Gly77=)
n.434T>G
12g.52519961A>GCA480070455KRT5c.336T>C (p.Gly112=)
c.44-38T>C (n.44-38T>C)
c.231T>C (p.Gly77=)
n.434T>C
12g.52519961A>TCA480070454KRT5c.336T>A (p.Gly112=)
c.44-38T>A (n.44-38T>A)
c.231T>A (p.Gly77=)
n.434T>A
12g.52519962C>ACA6582863KRT5c.335G>T (p.Gly112Val)
c.44-39G>T (n.44-39G>T)
c.230G>T (p.Gly77Val)
n.433G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52519962C=CA2036540532KRT5c.335G= (p.Gly112=)
c.44-39G= (n.44-39G=)
c.230G= (p.Gly77=)
n.433G=
12g.52519962C>GCA384929764KRT5c.335G>C (p.Gly112Ala)
c.44-39G>C (n.44-39G>C)
c.230G>C (p.Gly77Ala)
n.433G>C
12g.52519962C>TCA384929766KRT5c.335G>A (p.Gly112Asp)
c.44-39G>A (n.44-39G>A)
c.230G>A (p.Gly77Asp)
n.433G>A
 gnomAD v4
12g.52519963C>ACA384929775KRT5c.334G>T (p.Gly112Cys)
c.44-40G>T (n.44-40G>T)
c.229G>T (p.Gly77Cys)
n.432G>T
12g.52519963C=CA2036540533KRT5c.334G= (p.Gly112=)
c.44-40G= (n.44-40G=)
c.229G= (p.Gly77=)
n.432G=
12g.52519963C>GCA384929768KRT5c.334G>C (p.Gly112Arg)
c.44-40G>C (n.44-40G>C)
c.229G>C (p.Gly77Arg)
n.432G>C
12g.52519963C>TCA384929774KRT5c.334G>A (p.Gly112Ser)
c.44-40G>A (n.44-40G>A)
c.229G>A (p.Gly77Ser)
n.432G>A
 dbSNP
12g.52519964A>CCA480070456KRT5c.333T>G (p.Ala111=)
c.44-41T>G (n.44-41T>G)
c.228T>G (p.Ala76=)
n.431T>G
12g.52519964A>GCA480070457KRT5c.333T>C (p.Ala111=)
c.44-41T>C (n.44-41T>C)
c.228T>C (p.Ala76=)
n.431T>C
12g.52519964A>TCA480070458KRT5c.333T>A (p.Ala111=)
c.44-41T>A (n.44-41T>A)
c.228T>A (p.Ala76=)
n.431T>A
12g.52519965G>ACA384929781KRT5c.332C>T (p.Ala111Val)
c.44-42C>T (n.44-42C>T)
c.227C>T (p.Ala76Val)
n.430C>T
 gnomAD v4
12g.52519965G>CCA384929784KRT5c.332C>G (p.Ala111Gly)
c.44-42C>G (n.44-42C>G)
c.227C>G (p.Ala76Gly)
n.430C>G
12g.52519965G>TCA384929785KRT5c.332C>A (p.Ala111Asp)
c.44-42C>A (n.44-42C>A)
c.227C>A (p.Ala76Asp)
n.430C>A
12g.52519966C>ACA384929787KRT5c.331G>T (p.Ala111Ser)
c.44-43G>T (n.44-43G>T)
c.226G>T (p.Ala76Ser)
n.429G>T
 dbSNP gnomAD v2 gnomAD v4
12g.52519966C=CA2036540534KRT5c.331G= (p.Ala111=)
c.44-43G= (n.44-43G=)
c.226G= (p.Ala76=)
n.429G=
12g.52519966C>GCA384929790KRT5c.331G>C (p.Ala111Pro)
c.44-43G>C (n.44-43G>C)
c.226G>C (p.Ala76Pro)
n.429G>C
12g.52519966C>TCA384929792KRT5c.331G>A (p.Ala111Thr)
c.44-43G>A (n.44-43G>A)
c.226G>A (p.Ala76Thr)
n.429G>A
12g.52519967T>ACA480070460KRT5c.330A>T (p.Gly110=)
c.44-44A>T (n.44-44A>T)
c.225A>T (p.Gly75=)
n.428A>T
12g.52519967T>CCA480070461KRT5c.330A>G (p.Gly110=)
c.44-44A>G (n.44-44A>G)
c.225A>G (p.Gly75=)
n.428A>G
12g.52519967T>GCA480070464KRT5c.330A>C (p.Gly110=)
c.44-44A>C (n.44-44A>C)
c.225A>C (p.Gly75=)
n.428A>C
 dbSNP gnomAD v2 gnomAD v4
12g.52519967T=CA2036540535KRT5c.330A= (p.Gly110=)
c.44-44A= (n.44-44A=)
c.225A= (p.Gly75=)
n.428A=
12g.52519968C>ACA384929794KRT5c.329G>T (p.Gly110Val)
c.44-45G>T (n.44-45G>T)
c.224G>T (p.Gly75Val)
n.427G>T
12g.52519968C=CA2036540536KRT5c.329G= (p.Gly110=)
c.44-45G= (n.44-45G=)
c.224G= (p.Gly75=)
n.427G=
12g.52519968C>GCA384929796KRT5c.329G>C (p.Gly110Ala)
c.44-45G>C (n.44-45G>C)
c.224G>C (p.Gly75Ala)
n.427G>C
12g.52519968C>TCA384929798KRT5c.329G>A (p.Gly110Glu)
c.44-45G>A (n.44-45G>A)
c.224G>A (p.Gly75Glu)
n.427G>A
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched