Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52813937C>ACA384991222KRT4c.122G>T (p.Arg41Leu)
12g.52813937C=CA2036663514KRT4c.122G= (p.Arg41=)
12g.52813937C>GCA384991223KRT4c.122G>C (p.Arg41Pro)
12g.52813937C>TCA6588836KRT4c.122G>A (p.Arg41Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52813938G>ACA6588837KRT4c.121C>T (p.Arg41Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52813938G>CCA384991224KRT4c.121C>G (p.Arg41Gly)
12g.52813938G=CA2036663515KRT4c.121C= (p.Arg41=)
12g.52813938G>TCA480076159KRT4c.121C>A (p.Arg41=)
12g.52813939G>ACA480076162KRT4c.120C>T (p.Gly40=)
12g.52813939G>CCA480076161KRT4c.120C>G (p.Gly40=)
12g.52813939G>TCA480076160KRT4c.120C>A (p.Gly40=)
12g.52813940C>ACA384991225KRT4c.119G>T (p.Gly40Val)
12g.52813940C=CA2036663516KRT4c.119G= (p.Gly40=)
12g.52813940C>GCA384991226KRT4c.119G>C (p.Gly40Ala)
12g.52813940C>TCA6588838KRT4c.119G>A (p.Gly40Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52813941C>ACA384991227KRT4c.118G>T (p.Gly40Cys)
12g.52813941C>GCA384991229KRT4c.118G>C (p.Gly40Arg)
12g.52813941C>TCA384991228KRT4c.118G>A (p.Gly40Ser)
12g.52813942A>CCA480076165KRT4c.117T>G (p.Ala39=)
gnomAD v4
12g.52813942A>GCA480076164KRT4c.117T>C (p.Ala39=)
12g.52813942A>TCA480076163KRT4c.117T>A (p.Ala39=)
12g.52813943G>ACA384991230KRT4c.116C>T (p.Ala39Val)
dbSNP gnomAD v2 gnomAD v4
12g.52813943G>CCA384991232KRT4c.116C>G (p.Ala39Gly)
12g.52813943G=CA2036663517KRT4c.116C= (p.Ala39=)
12g.52813943G>TCA384991231KRT4c.116C>A (p.Ala39Asp)
dbSNP gnomAD v2 gnomAD v4
12g.52813944delCA2618967542KRT4c.115del (p.Ala39LeufsTer25)
gnomAD v4
12g.52813944C>ACA6588840KRT4c.115G>T (p.Ala39Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52813944C=CA2036663518KRT4c.115G= (p.Ala39=)
12g.52813944C>GCA384991233KRT4c.115G>C (p.Ala39Pro)
12g.52813944C>TCA6588839KRT4c.115G>A (p.Ala39Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52813945A>CCA480076166KRT4c.114T>G (p.Gly38=)
12g.52813945A>GCA480076168KRT4c.114T>C (p.Gly38=)
12g.52813945A>TCA480076167KRT4c.114T>A (p.Gly38=)
12g.52813946C>ACA384991234KRT4c.113G>T (p.Gly38Val)
12g.52813946C>GCA384991235KRT4c.113G>C (p.Gly38Ala)
12g.52813946C>TCA384991236KRT4c.113G>A (p.Gly38Asp)
12g.52813947C>ACA384991237KRT4c.112G>T (p.Gly38Cys)
12g.52813947C=CA2036663519KRT4c.112G= (p.Gly38=)
12g.52813947C>GCA384991238KRT4c.112G>C (p.Gly38Arg)
12g.52813947C>TCA384991239KRT4c.112G>A (p.Gly38Ser)
dbSNP gnomAD v2 gnomAD v4
12g.52813948T>ACA480076169KRT4c.111A>T (p.Gly37=)
12g.52813948T>CCA480076170KRT4c.111A>G (p.Gly37=)
gnomAD v4
12g.52813948T>GCA480076171KRT4c.111A>C (p.Gly37=)
12g.52813949C>ACA384991240KRT4c.110G>T (p.Gly37Val)
12g.52813949C=CA2036663520KRT4c.110G= (p.Gly37=)
12g.52813949C>GCA384991241KRT4c.110G>C (p.Gly37Ala)
12g.52813949C>TCA384991242KRT4c.110G>A (p.Gly37Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52813950C>ACA384991243KRT4c.109G>T (p.Gly37Ter)
12g.52813950C>GCA384991244KRT4c.109G>C (p.Gly37Arg)
12g.52813950C>TCA384991245KRT4c.109G>A (p.Gly37Arg)
gnomAD v4
12g.52813951A>CCA480076172KRT4c.108T>G (p.Ser36=)
12g.52813951A>GCA480076173KRT4c.108T>C (p.Ser36=)
12g.52813951A>TCA480076174KRT4c.108T>A (p.Ser36=)
12g.52813952G>ACA384991246KRT4c.107C>T (p.Ser36Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52813952G>CCA384991248KRT4c.107C>G (p.Ser36Cys)
12g.52813952G=CA2036663521KRT4c.107C= (p.Ser36=)
12g.52813952G>TCA384991247KRT4c.107C>A (p.Ser36Tyr)
12g.52813953A>CCA384991249KRT4c.106T>G (p.Ser36Ala)
12g.52813953A>GCA384991250KRT4c.106T>C (p.Ser36Pro)
12g.52813953A>TCA384991251KRT4c.106T>A (p.Ser36Thr)
12g.52813954C>ACA384991252KRT4c.105G>T (p.Met35Ile)
12g.52813954C>GCA384991253KRT4c.105G>C (p.Met35Ile)
12g.52813954C>TCA384991254KRT4c.105G>A (p.Met35Ile)
12g.52813955A=CA2036663522KRT4c.104T= (p.Met35=)
12g.52813955A>CCA384991255KRT4c.104T>G (p.Met35Arg)
12g.52813955A>GCA6588841KRT4c.104T>C (p.Met35Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52813955A>TCA384991256KRT4c.104T>A (p.Met35Lys)
12g.52813956T>ACA384991258KRT4c.103A>T (p.Met35Leu)
12g.52813956T>CCA384991259KRT4c.103A>G (p.Met35Val)
12g.52813956T>GCA384991257KRT4c.103A>C (p.Met35Leu)
12g.52813957G>ACA480076175KRT4c.102C>T (p.Ser34=)
12g.52813957G>CCA480076176KRT4c.102C>G (p.Ser34=)
12g.52813957G>TCA480076177KRT4c.102C>A (p.Ser34=)
12g.52813958G>ACA384991260KRT4c.101C>T (p.Ser34Phe)
dbSNP gnomAD v2 gnomAD v4
12g.52813958G>CCA384991261KRT4c.101C>G (p.Ser34Cys)
gnomAD v4
12g.52813958G=CA2036663523KRT4c.101C= (p.Ser34=)
12g.52813958G>TCA384991262KRT4c.101C>A (p.Ser34Tyr)
12g.52813959A=CA2036663524KRT4c.100T= (p.Ser34=)
12g.52813959A>CCA384991263KRT4c.100T>G (p.Ser34Ala)
12g.52813959A>GCA384991264KRT4c.100T>C (p.Ser34Pro)
dbSNP
12g.52813959A>TCA384991265KRT4c.100T>A (p.Ser34Thr)
12g.52813960G>ACA480076178KRT4c.99C>T (p.Val33=)
12g.52813960G>CCA480076179KRT4c.99C>G (p.Val33=)
gnomAD v4
12g.52813960G>TCA480076180KRT4c.99C>A (p.Val33=)
12g.52813961A>CCA384991266KRT4c.98T>G (p.Val33Gly)
12g.52813961A>GCA384991267KRT4c.98T>C (p.Val33Ala)
gnomAD v4
12g.52813961A>TCA384991268KRT4c.98T>A (p.Val33Asp)
12g.52813962C>ACA6588842KRT4c.97G>T (p.Val33Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52813962C=CA2036663525KRT4c.97G= (p.Val33=)
12g.52813962C>GCA384991269KRT4c.97G>C (p.Val33Leu)
12g.52813962C>TCA6588843KRT4c.97G>A (p.Val33Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52813963T>ACA480076181KRT4c.96A>T (p.Ser32=)
12g.52813963T>CCA480076182KRT4c.96A>G (p.Ser32=)
12g.52813963T>GCA480076183KRT4c.96A>C (p.Ser32=)
12g.52813964G>ACA384991272KRT4c.95C>T (p.Ser32Leu)
12g.52813964G>CCA384991270KRT4c.95C>G (p.Ser32Ter)
12g.52813964G>TCA384991271KRT4c.95C>A (p.Ser32Ter)
12g.52813965A>CCA384991273KRT4c.94T>G (p.Ser32Ala)
12g.52813965A>GCA384991274KRT4c.94T>C (p.Ser32Pro)
12g.52813965A>TCA384991275KRT4c.94T>A (p.Ser32Thr)
12g.52813966G>ACA480076184KRT4c.93C>T (p.Ser31=)
dbSNP gnomAD v2 gnomAD v4
12g.52813966G>CCA384991276KRT4c.93C>G (p.Ser31Arg)
12g.52813966G=CA2036663526KRT4c.93C= (p.Ser31=)
12g.52813966G>TCA384991277KRT4c.93C>A (p.Ser31Arg)
12g.52813967C>ACA384991278KRT4c.92G>T (p.Ser31Ile)
12g.52813967C=CA2036663527KRT4c.92G= (p.Ser31=)
12g.52813967C>GCA384991279KRT4c.92G>C (p.Ser31Thr)
12g.52813967C>TCA384991280KRT4c.92G>A (p.Ser31Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52813968T>ACA6588844KRT4c.91A>T (p.Ser31Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52813968T>CCA384991281KRT4c.91A>G (p.Ser31Gly)
12g.52813968T>GCA384991282KRT4c.91A>C (p.Ser31Arg)
12g.52813968T=CA2036663528KRT4c.91A= (p.Ser31=)
12g.52813969G>ACA480076185KRT4c.90C>T (p.Phe30=)
12g.52813969G>CCA384991283KRT4c.90C>G (p.Phe30Leu)
12g.52813969G>TCA384991284KRT4c.90C>A (p.Phe30Leu)
12g.52813970A>CCA384991287KRT4c.89T>G (p.Phe30Cys)
12g.52813970A>GCA384991286KRT4c.89T>C (p.Phe30Ser)
12g.52813970A>TCA384991285KRT4c.89T>A (p.Phe30Tyr)
12g.52813971A>CCA384991289KRT4c.88T>G (p.Phe30Val)
12g.52813971A>GCA384991288KRT4c.88T>C (p.Phe30Leu)
12g.52813971A>TCA384991290KRT4c.88T>A (p.Phe30Ile)
12g.52813972G>ACA237278877KRT4c.87C>T (p.Ala29=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52813972G>CCA480076187KRT4c.87C>G (p.Ala29=)
gnomAD v4
12g.52813972G=CA2036663529KRT4c.87C= (p.Ala29=)
12g.52813972G>TCA480076186KRT4c.87C>A (p.Ala29=)
12g.52813973G>ACA384991291KRT4c.86C>T (p.Ala29Val)
ClinVar gnomAD v4
12g.52813973G>CCA384991292KRT4c.86C>G (p.Ala29Gly)
12g.52813973G>TCA384991293KRT4c.86C>A (p.Ala29Asp)
12g.52813974C>ACA384991294KRT4c.85G>T (p.Ala29Ser)
12g.52813974C>GCA384991295KRT4c.85G>C (p.Ala29Pro)
12g.52813974C>TCA384991296KRT4c.85G>A (p.Ala29Thr)
12g.52813975A=CA2036663530KRT4c.84T= (p.Gly28=)
12g.52813975A>CCA6588845KRT4c.84T>G (p.Gly28=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52813975A>GCA480076188KRT4c.84T>C (p.Gly28=)
12g.52813975A>TCA480076189KRT4c.84T>A (p.Gly28=)
12g.52813976C>ACA384991297KRT4c.83G>T (p.Gly28Val)
gnomAD v4 COSMIC
12g.52813976C=CA2036663531KRT4c.83G= (p.Gly28=)
12g.52813976C>GCA384991298KRT4c.83G>C (p.Gly28Ala)
12g.52813976C>TCA384991299KRT4c.83G>A (p.Gly28Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52813976_52813977insTGGTGGCA2036663532KRT4c.82_83insCCACCA (p.Gly28delinsAlaThrSer)
dbSNP
12g.52813977C>ACA384991300KRT4c.82G>T (p.Gly28Cys)
12g.52813977C>GCA384991301KRT4c.82G>C (p.Gly28Arg)
12g.52813977C>TCA384991302KRT4c.82G>A (p.Gly28Ser)
12g.52813978T>ACA384991303KRT4c.81A>T (p.Arg27Ser)
12g.52813978T>CCA480076190KRT4c.81A>G (p.Arg27=)
dbSNP gnomAD v2 gnomAD v4
12g.52813978T>GCA384991304KRT4c.81A>C (p.Arg27Ser)
12g.52813978T=CA2036663533KRT4c.81A= (p.Arg27=)
12g.52813979C>ACA384991305KRT4c.80G>T (p.Arg27Ile)
12g.52813979C=CA2036663534KRT4c.80G= (p.Arg27=)
12g.52813979C>GCA384991306KRT4c.80G>C (p.Arg27Thr)
12g.52813979C>TCA384991307KRT4c.80G>A (p.Arg27Lys)
dbSNP
12g.52813980T>ACA384991308KRT4c.79A>T (p.Arg27Ter)
12g.52813980T>CCA384991309KRT4c.79A>G (p.Arg27Gly)
12g.52813980T>GCA480076191KRT4c.79A>C (p.Arg27=)
12g.52813981C>ACA384991310KRT4c.78G>T (p.Lys26Asn)
12g.52813981C=CA2036663535KRT4c.78G= (p.Lys26=)
12g.52813981C>GCA384991311KRT4c.78G>C (p.Lys26Asn)
dbSNP
12g.52813981C>TCA480076192KRT4c.78G>A (p.Lys26=)
dbSNP
12g.52813982T>ACA384991312KRT4c.77A>T (p.Lys26Met)
12g.52813982T>CCA384991313KRT4c.77A>G (p.Lys26Arg)
gnomAD v4
12g.52813982T>GCA384991314KRT4c.77A>C (p.Lys26Thr)
dbSNP
12g.52813982T=CA2036663536KRT4c.77A= (p.Lys26=)
12g.52813983T>ACA384991315KRT4c.76A>T (p.Lys26Ter)
12g.52813983T>CCA384991316KRT4c.76A>G (p.Lys26Glu)
12g.52813983T>GCA384991317KRT4c.76A>C (p.Lys26Gln)
12g.52813984G>ACA480076193KRT4c.75C>T (p.Gly25=)
12g.52813984G>CCA480076194KRT4c.75C>G (p.Gly25=)
12g.52813984G>TCA480076195KRT4c.75C>A (p.Gly25=)
12g.52813985C>ACA384991318KRT4c.74G>T (p.Gly25Val)
12g.52813985C>GCA384991320KRT4c.74G>C (p.Gly25Ala)
12g.52813985C>TCA384991319KRT4c.74G>A (p.Gly25Asp)
gnomAD v4
12g.52813986C>ACA384991321KRT4c.73G>T (p.Gly25Cys)
12g.52813986C>GCA384991322KRT4c.73G>C (p.Gly25Arg)
12g.52813986C>TCA384991323KRT4c.73G>A (p.Gly25Ser)
12g.52813987A=CA2036663537KRT4c.72T= (p.Gly24=)
12g.52813987A>CCA6588846KRT4c.72T>G (p.Gly24=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52813987A>GCA480076197KRT4c.72T>C (p.Gly24=)
12g.52813987A>TCA480076198KRT4c.72T>A (p.Gly24=)
12g.52813987_52814011delCA2618967596KRT4c.48_72del (p.Ser16ArgfsTer?)
gnomAD v4
12g.52813988C>ACA384991324KRT4c.71G>T (p.Gly24Val)
12g.52813988C>GCA384991325KRT4c.71G>C (p.Gly24Ala)
12g.52813988C>TCA384991326KRT4c.71G>A (p.Gly24Asp)
12g.52813989C>ACA384991327KRT4c.70G>T (p.Gly24Cys)
12g.52813989C=CA2036663538KRT4c.70G= (p.Gly24=)
12g.52813989C>GCA384991328KRT4c.70G>C (p.Gly24Arg)
dbSNP gnomAD v4
12g.52813989C>TCA6588847KRT4c.70G>A (p.Gly24Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.52813990G>ACA6588849KRT4c.69C>T (p.Gly23=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52813990G>CCA480076200KRT4c.69C>G (p.Gly23=)
12g.52813990G=CA2036663539KRT4c.69C= (p.Gly23=)
12g.52813990G>TCA6588848KRT4c.69C>A (p.Gly23=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52813991C>ACA384991331KRT4c.68G>T (p.Gly23Val)
12g.52813991C>GCA384991330KRT4c.68G>C (p.Gly23Ala)
12g.52813991C>TCA384991329KRT4c.68G>A (p.Gly23Asp)
gnomAD v4
12g.52813992C>ACA384991332KRT4c.67G>T (p.Gly23Cys)
12g.52813992C=CA2036663540KRT4c.67G= (p.Gly23=)
12g.52813992C>GCA384991333KRT4c.67G>C (p.Gly23Arg)
12g.52813992C>TCA384991334KRT4c.67G>A (p.Gly23Ser)
dbSNP
12g.52813993T>ACA480076204KRT4c.66A>T (p.Val22=)
gnomAD v4
12g.52813993T>CCA480076205KRT4c.66A>G (p.Val22=)
12g.52813993T>GCA480076206KRT4c.66A>C (p.Val22=)
12g.52813994A>CCA384991335KRT4c.65T>G (p.Val22Gly)
12g.52813994A>GCA384991336KRT4c.65T>C (p.Val22Ala)
gnomAD v4
12g.52813994A>TCA384991337KRT4c.65T>A (p.Val22Glu)
12g.52813995C>ACA384991338KRT4c.64G>T (p.Val22Leu)
12g.52813995C>GCA384991339KRT4c.64G>C (p.Val22Leu)
12g.52813995C>TCA384991340KRT4c.64G>A (p.Val22Ile)
12g.52813996A>CCA384991341KRT4c.63T>G (p.Ile21Met)
12g.52813996A>GCA480076210KRT4c.63T>C (p.Ile21=)
gnomAD v4
12g.52813996A>TCA480076211KRT4c.63T>A (p.Ile21=)
12g.52813997A=CA2036663541KRT4c.62T= (p.Ile21=)
12g.52813997A>CCA384991342KRT4c.62T>G (p.Ile21Ser)
12g.52813997A>GCA6588850KRT4c.62T>C (p.Ile21Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52813997A>TCA384991343KRT4c.62T>A (p.Ile21Asn)
12g.52813998T>ACA384991344KRT4c.61A>T (p.Ile21Phe)
12g.52813998T>CCA6588852KRT4c.61A>G (p.Ile21Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52813998T>GCA6588851KRT4c.61A>C (p.Ile21Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52813998T=CA2036663542KRT4c.61A= (p.Ile21=)
12g.52813999G>ACA6588853KRT4c.60C>T (p.Ala20=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52813999G>CCA480076215KRT4c.60C>G (p.Ala20=)
12g.52813999G=CA2036663543KRT4c.60C= (p.Ala20=)
12g.52813999G>TCA480076216KRT4c.60C>A (p.Ala20=)
12g.52814000G>ACA384991346KRT4c.59C>T (p.Ala20Val)
gnomAD v4
12g.52814000G>CCA384991345KRT4c.59C>G (p.Ala20Gly)
12g.52814000G=CA2036663544KRT4c.59C= (p.Ala20=)
12g.52814000G>TCA6588854KRT4c.59C>A (p.Ala20Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52814001C>ACA384991347KRT4c.58G>T (p.Ala20Ser)
12g.52814001C>GCA384991348KRT4c.58G>C (p.Ala20Pro)
12g.52814001C>TCA384991349KRT4c.58G>A (p.Ala20Thr)
12g.52814002C>ACA480076220KRT4c.57G>T (p.Ser19=)
12g.52814002C=CA2036663545KRT4c.57G= (p.Ser19=)
12g.52814002C>GCA6588855KRT4c.57G>C (p.Ser19=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52814002C>TCA6588856KRT4c.57G>A (p.Ser19=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52814003G>ACA6588857KRT4c.56C>T (p.Ser19Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52814003G>CCA384991351KRT4c.56C>G (p.Ser19Trp)
12g.52814003G=CA2036663547KRT4c.56C= (p.Ser19=)
12g.52814003G>TCA384991350KRT4c.56C>A (p.Ser19Ter)
gnomAD v4
12g.52814003dupCA2036663546KRT4c.56dup (p.Ala20GlyfsTer?)
dbSNP
12g.52814004A>CCA384991352KRT4c.55T>G (p.Ser19Ala)
12g.52814004A>GCA384991353KRT4c.55T>C (p.Ser19Pro)
12g.52814004A>TCA384991354KRT4c.55T>A (p.Ser19Thr)
12g.52814005G>ACA480076224KRT4c.54C>T (p.Gly18=)
12g.52814005G>CCA6588858KRT4c.54C>G (p.Gly18=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.52814005G=CA2036663548KRT4c.54C= (p.Gly18=)
12g.52814005G>TCA480076226KRT4c.54C>A (p.Gly18=)
12g.52814006C>ACA384991355KRT4c.53G>T (p.Gly18Val)
gnomAD v4
12g.52814006C>GCA384991357KRT4c.53G>C (p.Gly18Ala)
12g.52814006C>TCA384991356KRT4c.53G>A (p.Gly18Asp)
12g.52814007C>ACA384991358KRT4c.52G>T (p.Gly18Cys)
gnomAD v4
12g.52814007C=CA2036663549KRT4c.52G= (p.Gly18=)
12g.52814007C>GCA384991359KRT4c.52G>C (p.Gly18Arg)
12g.52814007C>TCA384991360KRT4c.52G>A (p.Gly18Ser)
dbSNP gnomAD v3 gnomAD v4
12g.52814008A>CCA384991361KRT4c.51T>G (p.Cys17Trp)
12g.52814008A>GCA480076231KRT4c.51T>C (p.Cys17=)
12g.52814008A>TCA384991362KRT4c.51T>A (p.Cys17Ter)
12g.52814009C>ACA384991363KRT4c.50G>T (p.Cys17Phe)
12g.52814009C>GCA384991364KRT4c.50G>C (p.Cys17Ser)
12g.52814009C>TCA384991365KRT4c.50G>A (p.Cys17Tyr)
12g.52814010A>CCA384991366KRT4c.49T>G (p.Cys17Gly)
12g.52814010A>GCA384991367KRT4c.49T>C (p.Cys17Arg)
12g.52814010A>TCA384991368KRT4c.49T>A (p.Cys17Ser)
dbSNP gnomAD v4
12g.52814011G>ACA480076235KRT4c.48C>T (p.Ser16=)
dbSNP
12g.52814011G>CCA384991370KRT4c.48C>G (p.Ser16Arg)
12g.52814011G>TCA384991369KRT4c.48C>A (p.Ser16Arg)
12g.52814012C>ACA384991371KRT4c.47G>T (p.Ser16Ile)
12g.52814012C=CA2036663550KRT4c.47G= (p.Ser16=)
12g.52814012C>GCA384991372KRT4c.47G>C (p.Ser16Thr)
gnomAD v4
12g.52814012C>TCA237278935KRT4c.47G>A (p.Ser16Asn)
dbSNP gnomAD v4
12g.52814013T>ACA384991373KRT4c.46A>T (p.Ser16Cys)
12g.52814013T>CCA384991374KRT4c.46A>G (p.Ser16Gly)
12g.52814013T>GCA384991375KRT4c.46A>C (p.Ser16Arg)
12g.52814014G>ACA480076244KRT4c.45C>T (p.Phe15=)
12g.52814014G>CCA384991377KRT4c.45C>G (p.Phe15Leu)
12g.52814014G>TCA384991376KRT4c.45C>A (p.Phe15Leu)
12g.52814015A>CCA384991378KRT4c.44T>G (p.Phe15Cys)
12g.52814015A>GCA384991379KRT4c.44T>C (p.Phe15Ser)
gnomAD v4
12g.52814015A>TCA384991380KRT4c.44T>A (p.Phe15Tyr)
12g.52814016A>CCA384991381KRT4c.43T>G (p.Phe15Val)
12g.52814016A>GCA384991382KRT4c.43T>C (p.Phe15Leu)
12g.52814016A>TCA384991383KRT4c.43T>A (p.Phe15Ile)
12g.52814017G>ACA480076256KRT4c.42C>T (p.Gly14=)
12g.52814017G>CCA480076258KRT4c.42C>G (p.Gly14=)
12g.52814017G>TCA480076260KRT4c.42C>A (p.Gly14=)
12g.52814018C>ACA384991386KRT4c.41G>T (p.Gly14Val)
12g.52814018C>GCA384991384KRT4c.41G>C (p.Gly14Ala)
12g.52814018C>TCA384991385KRT4c.41G>A (p.Gly14Asp)
12g.52814021delCA2839620937KRT4c.41del (p.Gly14AlafsTer9)
12g.52814019C>ACA384991387KRT4c.40G>T (p.Gly14Cys)
12g.52814019C>GCA384991388KRT4c.40G>C (p.Gly14Arg)
12g.52814019C>TCA384991389KRT4c.40G>A (p.Gly14Ser)
12g.52814020C>ACA480076263KRT4c.39G>T (p.Arg13=)
12g.52814020C>GCA480076265KRT4c.39G>C (p.Arg13=)
12g.52814020C>TCA480076267KRT4c.39G>A (p.Arg13=)
12g.52814021C>ACA384991390KRT4c.38G>T (p.Arg13Leu)
12g.52814021C=CA2036663551KRT4c.38G= (p.Arg13=)
12g.52814021C>GCA384991391KRT4c.38G>C (p.Arg13Pro)
dbSNP gnomAD v4
12g.52814021C>TCA6588859KRT4c.38G>A (p.Arg13Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52814021_52814022delinsCGCA2036663552KRT4c.37_38delinsCG (p.Arg13=)
12g.52814022G>ACA6588862KRT4c.37C>T (p.Arg13Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52814022G>CCA384991392KRT4c.37C>G (p.Arg13Gly)
12g.52814022G=CA2036663553KRT4c.37C= (p.Arg13=)
12g.52814022G>TCA6588861KRT4c.37C>A (p.Arg13=)
dbSNP ExAC gnomAD v2
12g.52814025delCA6588860KRT4c.37del (p.Arg13GlyfsTer10)
dbSNP ExAC gnomAD v2
12g.52814023G>ACA480076280KRT4c.36C>T (p.Pro12=)
dbSNP
12g.52814023G>CCA480076279KRT4c.36C>G (p.Pro12=)
12g.52814023G>TCA480076278KRT4c.36C>A (p.Pro12=)
12g.52814024G>ACA384991393KRT4c.35C>T (p.Pro12Leu)
dbSNP gnomAD v2 gnomAD v4
12g.52814024G>CCA384991394KRT4c.35C>G (p.Pro12Arg)
12g.52814024G=CA2036663554KRT4c.35C= (p.Pro12=)
12g.52814024G>TCA384991395KRT4c.35C>A (p.Pro12His)
12g.52814025G>ACA384991396KRT4c.34C>T (p.Pro12Ser)
12g.52814025G>CCA384991398KRT4c.34C>G (p.Pro12Ala)
12g.52814025G>TCA384991397KRT4c.34C>A (p.Pro12Thr)
gnomAD v4
12g.52814026C>ACA480076284KRT4c.33G>T (p.Gly11=)
12g.52814026C=CA2036663555KRT4c.33G= (p.Gly11=)
12g.52814026C>GCA480076283KRT4c.33G>C (p.Gly11=)
12g.52814026C>TCA480076282KRT4c.33G>A (p.Gly11=)
dbSNP gnomAD v2 gnomAD v4
12g.52814027C>ACA384991399KRT4c.32G>T (p.Gly11Val)
12g.52814027C>GCA384991400KRT4c.32G>C (p.Gly11Ala)
12g.52814027C>TCA384991401KRT4c.32G>A (p.Gly11Glu)
12g.52814028C>ACA384991402KRT4c.31G>T (p.Gly11Trp)
12g.52814028C=CA2036663556KRT4c.31G= (p.Gly11=)
12g.52814028C>GCA384991403KRT4c.31G>C (p.Gly11Arg)
12g.52814028C>TCA6588863KRT4c.31G>A (p.Gly11Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52814029_52814030delCA2618967687KRT4c.30_31del (p.Gly11AlafsTer?)
gnomAD v4
12g.52814029G>ACA6588864KRT4c.30C>T (p.Gly10=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52814029G>CCA480076290KRT4c.30C>G (p.Gly10=)
12g.52814029G=CA2036663557KRT4c.30C= (p.Gly10=)
12g.52814029G>TCA480076289KRT4c.30C>A (p.Gly10=)
12g.52814030C>ACA384991404KRT4c.29G>T (p.Gly10Val)
12g.52814030C>GCA384991405KRT4c.29G>C (p.Gly10Ala)
12g.52814030C>TCA384991406KRT4c.29G>A (p.Gly10Asp)
12g.52814031C>ACA384991407KRT4c.28G>T (p.Gly10Cys)
dbSNP gnomAD v2 gnomAD v4
12g.52814031C=CA2036663558KRT4c.28G= (p.Gly10=)
12g.52814031C>GCA384991408KRT4c.28G>C (p.Gly10Arg)
12g.52814031C>TCA6588865KRT4c.28G>A (p.Gly10Ser)
dbSNP ExAC gnomAD v4
12g.52814032T>ACA480076295KRT4c.27A>T (p.Arg9=)
12g.52814032T>CCA237278972KRT4c.27A>G (p.Arg9=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52814032T>GCA480076296KRT4c.27A>C (p.Arg9=)
12g.52814032T=CA2036663559KRT4c.27A= (p.Arg9=)
12g.52814033C>ACA384991410KRT4c.26G>T (p.Arg9Leu)
12g.52814033C=CA2036663560KRT4c.26G= (p.Arg9=)
12g.52814033C>GCA237278976KRT4c.26G>C (p.Arg9Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52814033C>TCA384991409KRT4c.26G>A (p.Arg9Gln)
dbSNP gnomAD v4
12g.52814034G>ACA384991411KRT4c.25C>T (p.Arg9Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52814034G>CCA10642823KRT4c.25C>G (p.Arg9Gly)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.52814034G=CA2036663561KRT4c.25C= (p.Arg9=)
12g.52814034G>TCA480076301KRT4c.25C>A (p.Arg9=)
12g.52814035G>ACA480076307KRT4c.24C>T (p.Val8=)
12g.52814035G>CCA480076308KRT4c.24C>G (p.Val8=)
12g.52814035G>TCA480076309KRT4c.24C>A (p.Val8=)
gnomAD v4
12g.52814036A=CA2036663562KRT4c.23T= (p.Val8=)
12g.52814036A>CCA384991412KRT4c.23T>G (p.Val8Gly)
12g.52814036A>GCA6588866KRT4c.23T>C (p.Val8Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52814036A>TCA384991413KRT4c.23T>A (p.Val8Asp)
dbSNP gnomAD v3 gnomAD v4
12g.52814037C>ACA384991414KRT4c.22G>T (p.Val8Phe)
12g.52814037C>GCA384991415KRT4c.22G>C (p.Val8Leu)
12g.52814037C>TCA384991416KRT4c.22G>A (p.Val8Ile)

Number of alleles fetched