Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52519817_52519828delCA2695216901KRT5c.472_483del (p.Asp158_Ile161del)
c.142_153del (p.Asp48_Ile51del)
c.367_378del (p.Asp123_Ile126del)
n.570_581del
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

Number of alleles fetched