Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
12g.52519842G>ACA216722KRT5c.455C>T (p.Pro152Leu)
c.125C>T (p.Pro42Leu)
c.350C>T (p.Pro117Leu)
n.553C>T
 ClinVar dbSNP gnomAD v4
12g.52519842G>CCA384929135KRT5c.455C>G (p.Pro152Arg)
c.125C>G (p.Pro42Arg)
c.350C>G (p.Pro117Arg)
n.553C>G
12g.52519842G=CA2036540477KRT5c.455C= (p.Pro152=)
c.125C= (p.Pro42=)
c.350C= (p.Pro117=)
n.553C=
12g.52519842G>TCA384929137KRT5c.455C>A (p.Pro152His)
c.125C>A (p.Pro42His)
c.350C>A (p.Pro117His)
n.553C>A
12g.52519843G>ACA384929139KRT5c.454C>T (p.Pro152Ser)
c.124C>T (p.Pro42Ser)
c.349C>T (p.Pro117Ser)
n.552C>T
 dbSNP gnomAD v4 COSMIC
12g.52519843G>CCA384929140KRT5c.454C>G (p.Pro152Ala)
c.124C>G (p.Pro42Ala)
c.349C>G (p.Pro117Ala)
n.552C>G
12g.52519843G=CA2036540478KRT5c.454C= (p.Pro152=)
c.124C= (p.Pro42=)
c.349C= (p.Pro117=)
n.552C=
12g.52519843G>TCA6582842KRT5c.454C>A (p.Pro152Thr)
c.124C>A (p.Pro42Thr)
c.349C>A (p.Pro117Thr)
n.552C>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.52519844A>CCA480070346KRT5c.453T>G (p.Thr151=)
c.123T>G (p.Thr41=)
c.348T>G (p.Thr116=)
n.551T>G
12g.52519844A>GCA480070347KRT5c.453T>C (p.Thr151=)
c.123T>C (p.Thr41=)
c.348T>C (p.Thr116=)
n.551T>C
12g.52519844A>TCA480070348KRT5c.453T>A (p.Thr151=)
c.123T>A (p.Thr41=)
c.348T>A (p.Thr116=)
n.551T>A
12g.52519845G>ACA384929141KRT5c.452C>T (p.Thr151Ile)
c.122C>T (p.Thr41Ile)
c.347C>T (p.Thr116Ile)
n.550C>T
12g.52519845G>CCA384929143KRT5c.452C>G (p.Thr151Ser)
c.122C>G (p.Thr41Ser)
c.347C>G (p.Thr116Ser)
n.550C>G
12g.52519845G>TCA384929142KRT5c.452C>A (p.Thr151Asn)
c.122C>A (p.Thr41Asn)
c.347C>A (p.Thr116Asn)
n.550C>A
12g.52519846T>ACA384929144KRT5c.451A>T (p.Thr151Ser)
c.121A>T (p.Thr41Ser)
c.346A>T (p.Thr116Ser)
n.549A>T
12g.52519846T>CCA384929147KRT5c.451A>G (p.Thr151Ala)
c.121A>G (p.Thr41Ala)
c.346A>G (p.Thr116Ala)
n.549A>G
12g.52519846T>GCA216720KRT5c.451A>C (p.Thr151Pro)
c.121A>C (p.Thr41Pro)
c.346A>C (p.Thr116Pro)
n.549A>C
 ClinVar dbSNP
12g.52519846T=CA2036540479KRT5c.451A= (p.Thr151=)
c.121A= (p.Thr41=)
c.346A= (p.Thr116=)
n.549A=
12g.52519847C>ACA480070351KRT5c.450G>T (p.Leu150=)
c.120G>T (p.Leu40=)
c.345G>T (p.Leu115=)
n.548G>T
12g.52519847C>GCA480070350KRT5c.450G>C (p.Leu150=)
c.120G>C (p.Leu40=)
c.345G>C (p.Leu115=)
n.548G>C
12g.52519847C>TCA480070349KRT5c.450G>A (p.Leu150=)
c.120G>A (p.Leu40=)
c.345G>A (p.Leu115=)
n.548G>A
12g.52519848A=CA2036540480KRT5c.449T= (p.Leu150=)
c.119T= (p.Leu40=)
c.344T= (p.Leu115=)
n.547T=
12g.52519848A>CCA384929150KRT5c.449T>G (p.Leu150Arg)
c.119T>G (p.Leu40Arg)
c.344T>G (p.Leu115Arg)
n.547T>G
12g.52519848A>GCA216718KRT5c.449T>C (p.Leu150Pro)
c.119T>C (p.Leu40Pro)
c.344T>C (p.Leu115Pro)
n.547T>C
 ClinVar dbSNP
12g.52519848A>TCA384929152KRT5c.449T>A (p.Leu150Gln)
c.119T>A (p.Leu40Gln)
c.344T>A (p.Leu115Gln)
n.547T>A
12g.52519849G>ACA480070352KRT5c.448C>T (p.Leu150=)
c.118C>T (p.Leu40=)
c.343C>T (p.Leu115=)
n.546C>T
 COSMIC
12g.52519849G>CCA384929153KRT5c.448C>G (p.Leu150Val)
c.118C>G (p.Leu40Val)
c.343C>G (p.Leu115Val)
n.546C>G
12g.52519849G>TCA384929155KRT5c.448C>A (p.Leu150Met)
c.118C>A (p.Leu40Met)
c.343C>A (p.Leu115Met)
n.546C>A
12g.52519850G>ACA480070353KRT5c.447C>T (p.Leu149=)
c.117C>T (p.Leu39=)
c.342C>T (p.Leu114=)
n.545C>T
12g.52519850G>CCA480070354KRT5c.447C>G (p.Leu149=)
c.117C>G (p.Leu39=)
c.342C>G (p.Leu114=)
n.545C>G
12g.52519850G=CA2036540481KRT5c.447C= (p.Leu149=)
c.117C= (p.Leu39=)
c.342C= (p.Leu114=)
n.545C=
12g.52519850G>TCA6582843KRT5c.447C>A (p.Leu149=)
c.117C>A (p.Leu39=)
c.342C>A (p.Leu114=)
n.545C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52519851A=CA2036540482KRT5c.446T= (p.Leu149=)
c.116T= (p.Leu39=)
c.341T= (p.Leu114=)
n.544T=
12g.52519851A>CCA384929158KRT5c.446T>G (p.Leu149Arg)
c.116T>G (p.Leu39Arg)
c.341T>G (p.Leu114Arg)
n.544T>G
12g.52519851A>GCA216716KRT5c.446T>C (p.Leu149Pro)
c.116T>C (p.Leu39Pro)
c.341T>C (p.Leu114Pro)
n.544T>C
 ClinVar dbSNP
12g.52519851A>TCA384929159KRT5c.446T>A (p.Leu149His)
c.116T>A (p.Leu39His)
c.341T>A (p.Leu114His)
n.544T>A
12g.52519852G>ACA384929165KRT5c.445C>T (p.Leu149Phe)
c.115C>T (p.Leu39Phe)
c.340C>T (p.Leu114Phe)
n.543C>T
12g.52519852G>CCA384929163KRT5c.445C>G (p.Leu149Val)
c.115C>G (p.Leu39Val)
c.340C>G (p.Leu114Val)
n.543C>G
12g.52519852G>TCA384929162KRT5c.445C>A (p.Leu149Ile)
c.115C>A (p.Leu39Ile)
c.340C>A (p.Leu114Ile)
n.543C>A
 COSMIC
12g.52519853A=CA2036540484KRT5c.444T= (p.Ser148=)
c.114T= (p.Ser38=)
c.339T= (p.Ser113=)
n.542T=
12g.52519853A>CCA384929167KRT5c.444T>G (p.Ser148Arg)
c.114T>G (p.Ser38Arg)
c.339T>G (p.Ser113Arg)
n.542T>G
 gnomAD v4
12g.52519853A>GCA237229132KRT5c.444T>C (p.Ser148=)
c.114T>C (p.Ser38=)
c.339T>C (p.Ser113=)
n.542T>C
 dbSNP gnomAD v3 gnomAD v4
12g.52519853A>TCA384929172KRT5c.444T>A (p.Ser148Arg)
c.114T>A (p.Ser38Arg)
c.339T>A (p.Ser113Arg)
n.542T>A
12g.52519853_52519855delinsACTCA2036540483KRT5c.442_444delinsAGT (p.Ser148=)
c.112_114delinsAGT (p.Ser38=)
c.337_339delinsAGT (p.Ser113=)
n.540_542delinsAGT
12g.52519854C>ACA384929176KRT5c.443G>T (p.Ser148Ile)
c.113G>T (p.Ser38Ile)
c.338G>T (p.Ser113Ile)
n.541G>T
12g.52519854C>GCA384929179KRT5c.443G>C (p.Ser148Thr)
c.113G>C (p.Ser38Thr)
c.338G>C (p.Ser113Thr)
n.541G>C
12g.52519854C>TCA384929184KRT5c.443G>A (p.Ser148Asn)
c.113G>A (p.Ser38Asn)
c.338G>A (p.Ser113Asn)
n.541G>A
12g.52519856_52519857delCA216715KRT5c.442_443del (p.Leu149ProfsTer29)
c.112_113del (p.Leu39ProfsTer29)
c.337_338del (p.Leu114ProfsTer29)
n.540_541del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52519855T>ACA384929191KRT5c.442A>T (p.Ser148Cys)
c.112A>T (p.Ser38Cys)
c.337A>T (p.Ser113Cys)
n.540A>T
 COSMIC
12g.52519855T>CCA384929195KRT5c.442A>G (p.Ser148Gly)
c.112A>G (p.Ser38Gly)
c.337A>G (p.Ser113Gly)
n.540A>G
12g.52519855T>GCA384929197KRT5c.442A>C (p.Ser148Arg)
c.112A>C (p.Ser38Arg)
c.337A>C (p.Ser113Arg)
n.540A>C
12g.52519856C>ACA384929210KRT5c.441G>T (p.Gln147His)
c.111G>T (p.Gln37His)
c.336G>T (p.Gln112His)
n.539G>T
12g.52519856C>GCA384929212KRT5c.441G>C (p.Gln147His)
c.111G>C (p.Gln37His)
c.336G>C (p.Gln112His)
n.539G>C
12g.52519856C>TCA480070355KRT5c.441G>A (p.Gln147=)
c.111G>A (p.Gln37=)
c.336G>A (p.Gln112=)
n.539G>A
12g.52519857T>ACA384929217KRT5c.440A>T (p.Gln147Leu)
c.110A>T (p.Gln37Leu)
c.335A>T (p.Gln112Leu)
n.538A>T
12g.52519857T>CCA384929216KRT5c.440A>G (p.Gln147Arg)
c.110A>G (p.Gln37Arg)
c.335A>G (p.Gln112Arg)
n.538A>G
12g.52519857T>GCA384929214KRT5c.440A>C (p.Gln147Pro)
c.110A>C (p.Gln37Pro)
c.335A>C (p.Gln112Pro)
n.538A>C
12g.52519858G>ACA384929221KRT5c.439C>T (p.Gln147Ter)
c.109C>T (p.Gln37Ter)
c.334C>T (p.Gln112Ter)
n.537C>T
 COSMIC
12g.52519858G>CCA384929232KRT5c.439C>G (p.Gln147Glu)
c.109C>G (p.Gln37Glu)
c.334C>G (p.Gln112Glu)
n.537C>G
12g.52519858G=CA2036540485KRT5c.439C= (p.Gln147=)
c.109C= (p.Gln37=)
c.334C= (p.Gln112=)
n.537C=
12g.52519858G>TCA384929230KRT5c.439C>A (p.Gln147Lys)
c.109C>A (p.Gln37Lys)
c.334C>A (p.Gln112Lys)
n.537C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52519859G>ACA480070356KRT5c.438C>T (p.Asn146=)
c.108C>T (p.Asn36=)
c.333C>T (p.Asn111=)
n.536C>T
 gnomAD v4
12g.52519859G>CCA384929238KRT5c.438C>G (p.Asn146Lys)
c.108C>G (p.Asn36Lys)
c.333C>G (p.Asn111Lys)
n.536C>G
12g.52519859G>TCA384929239KRT5c.438C>A (p.Asn146Lys)
c.108C>A (p.Asn36Lys)
c.333C>A (p.Asn111Lys)
n.536C>A
 gnomAD v4
12g.52519860T>ACA384929242KRT5c.437A>T (p.Asn146Ile)
c.107A>T (p.Asn36Ile)
c.332A>T (p.Asn111Ile)
n.535A>T
12g.52519860T>CCA384929245KRT5c.437A>G (p.Asn146Ser)
c.107A>G (p.Asn36Ser)
c.332A>G (p.Asn111Ser)
n.535A>G
12g.52519860T>GCA384929247KRT5c.437A>C (p.Asn146Thr)
c.107A>C (p.Asn36Thr)
c.332A>C (p.Asn111Thr)
n.535A>C
12g.52519861T>ACA384929249KRT5c.436A>T (p.Asn146Tyr)
c.106A>T (p.Asn36Tyr)
c.331A>T (p.Asn111Tyr)
n.534A>T
12g.52519861T>CCA384929251KRT5c.436A>G (p.Asn146Asp)
c.106A>G (p.Asn36Asp)
c.331A>G (p.Asn111Asp)
n.534A>G
12g.52519861T>GCA384929253KRT5c.436A>C (p.Asn146His)
c.106A>C (p.Asn36His)
c.331A>C (p.Asn111His)
n.534A>C
12g.52519865_52519870delCA2573105837KRT5c.431_436del (p.Thr144_Val145del)
c.101_106del (p.Thr34_Val35del)
c.326_331del (p.Thr109_Val110del)
n.529_534del
12g.52519862G>ACA480070357KRT5c.435C>T (p.Val145=)
c.105C>T (p.Val35=)
c.330C>T (p.Val110=)
n.533C>T
12g.52519862G>CCA480070358KRT5c.435C>G (p.Val145=)
c.105C>G (p.Val35=)
c.330C>G (p.Val110=)
n.533C>G
12g.52519862G>TCA480070359KRT5c.435C>A (p.Val145=)
c.105C>A (p.Val35=)
c.330C>A (p.Val110=)
n.533C>A
12g.52519863A=CA2036540486KRT5c.434T= (p.Val145=)
c.104T= (p.Val35=)
c.329T= (p.Val110=)
n.532T=
12g.52519863A>CCA384929257KRT5c.434T>G (p.Val145Gly)
c.104T>G (p.Val35Gly)
c.329T>G (p.Val110Gly)
n.532T>G
 ClinVar
12g.52519863A>GCA384929258KRT5c.434T>C (p.Val145Ala)
c.104T>C (p.Val35Ala)
c.329T>C (p.Val110Ala)
n.532T>C
12g.52519863A>TCA384929261KRT5c.434T>A (p.Val145Asp)
c.104T>A (p.Val35Asp)
c.329T>A (p.Val110Asp)
n.532T>A
 ClinVar dbSNP
12g.52519864C>ACA384929263KRT5c.433G>T (p.Val145Phe)
c.103G>T (p.Val35Phe)
c.328G>T (p.Val110Phe)
n.531G>T
12g.52519864C>GCA384929265KRT5c.433G>C (p.Val145Leu)
c.103G>C (p.Val35Leu)
c.328G>C (p.Val110Leu)
n.531G>C
12g.52519864C>TCA384929267KRT5c.433G>A (p.Val145Ile)
c.103G>A (p.Val35Ile)
c.328G>A (p.Val110Ile)
n.531G>A
12g.52519865A>CCA480070360KRT5c.432T>G (p.Thr144=)
c.102T>G (p.Thr34=)
c.327T>G (p.Thr109=)
n.530T>G
12g.52519865A>GCA480070361KRT5c.432T>C (p.Thr144=)
c.102T>C (p.Thr34=)
c.327T>C (p.Thr109=)
n.530T>C
 dbSNP gnomAD v4
12g.52519865A>TCA480070362KRT5c.432T>A (p.Thr144=)
c.102T>A (p.Thr34=)
c.327T>A (p.Thr109=)
n.530T>A
12g.52519866G>ACA384929270KRT5c.431C>T (p.Thr144Ile)
c.101C>T (p.Thr34Ile)
c.326C>T (p.Thr109Ile)
n.529C>T
12g.52519866G>CCA384929269KRT5c.431C>G (p.Thr144Ser)
c.101C>G (p.Thr34Ser)
c.326C>G (p.Thr109Ser)
n.529C>G
 dbSNP gnomAD v2 gnomAD v4
12g.52519866G=CA2036540487KRT5c.431C= (p.Thr144=)
c.101C= (p.Thr34=)
c.326C= (p.Thr109=)
n.529C=
12g.52519866G>TCA384929268KRT5c.431C>A (p.Thr144Asn)
c.101C>A (p.Thr34Asn)
c.326C>A (p.Thr109Asn)
n.529C>A
12g.52519867T>ACA384929271KRT5c.430A>T (p.Thr144Ser)
c.100A>T (p.Thr34Ser)
c.325A>T (p.Thr109Ser)
n.528A>T
12g.52519867T>CCA237229134KRT5c.430A>G (p.Thr144Ala)
c.100A>G (p.Thr34Ala)
c.325A>G (p.Thr109Ala)
n.528A>G
 dbSNP
12g.52519867T>GCA384929273KRT5c.430A>C (p.Thr144Pro)
c.100A>C (p.Thr34Pro)
c.325A>C (p.Thr109Pro)
n.528A>C
 gnomAD v4
12g.52519867T=CA2036540488KRT5c.430A= (p.Thr144=)
c.100A= (p.Thr34=)
c.325A= (p.Thr109=)
n.528A=
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

Number of alleles fetched