Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52451599C>ACA480067981KRT6Bc.480G>T (p.Arg160=)
12g.52451599C=CA2036500722KRT6Bc.480G= (p.Arg160=)
12g.52451599C>GCA480067982KRT6Bc.480G>C (p.Arg160=)
dbSNP
12g.52451599C>TCA480067983KRT6Bc.480G>A (p.Arg160=)
gnomAD v4
12g.52451600C>ACA384927191KRT6Bc.479G>T (p.Arg160Leu)
gnomAD v3 gnomAD v4
12g.52451600C=CA2036500725KRT6Bc.479G= (p.Arg160=)
12g.52451600C>GCA384927188KRT6Bc.479G>C (p.Arg160Pro)
dbSNP
12g.52451600C>TCA6580830KRT6Bc.479G>A (p.Arg160Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451601G>ACA384927195KRT6Bc.478C>T (p.Arg160Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451601G>CCA384927197KRT6Bc.478C>G (p.Arg160Gly)
12g.52451601G=CA2036500731KRT6Bc.478C= (p.Arg160=)
12g.52451601G>TCA480067988KRT6Bc.478C>A (p.Arg160=)
gnomAD v4
12g.52451602C>ACA480067990KRT6Bc.477G>T (p.Val159=)
12g.52451602C=CA2036500740KRT6Bc.477G= (p.Val159=)
12g.52451602C>GCA480067991KRT6Bc.477G>C (p.Val159=)
12g.52451602C>TCA480067992KRT6Bc.477G>A (p.Val159=)
dbSNP gnomAD v3 gnomAD v4
12g.52451603A>CCA384927200KRT6Bc.476T>G (p.Val159Gly)
12g.52451603A>GCA384927202KRT6Bc.476T>C (p.Val159Ala)
12g.52451603A>TCA384927203KRT6Bc.476T>A (p.Val159Glu)
12g.52451604C>ACA384927205KRT6Bc.475G>T (p.Val159Leu)
gnomAD v4
12g.52451604C=CA2036500743KRT6Bc.475G= (p.Val159=)
12g.52451604C>GCA6580831KRT6Bc.475G>C (p.Val159Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451604C>TCA384927208KRT6Bc.475G>A (p.Val159Met)
dbSNP
12g.52451605C>ACA480067996KRT6Bc.474G>T (p.Arg158=)
gnomAD v4
12g.52451605C>GCA480067997KRT6Bc.474G>C (p.Arg158=)
12g.52451605C>TCA480067998KRT6Bc.474G>A (p.Arg158=)
gnomAD v4
12g.52451606C>ACA6580833KRT6Bc.473G>T (p.Arg158Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451606C=CA2036500748KRT6Bc.473G= (p.Arg158=)
12g.52451606C>GCA384927209KRT6Bc.473G>C (p.Arg158Pro)
12g.52451606C>TCA6580832KRT6Bc.473G>A (p.Arg158Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52451607G>ACA6580834KRT6Bc.472C>T (p.Arg158Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52451607G>CCA6580836KRT6Bc.472C>G (p.Arg158Gly)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.52451607G=CA2036500751KRT6Bc.472C= (p.Arg158=)
12g.52451607G>TCA6580835KRT6Bc.472C>A (p.Arg158=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451608C>ACA384927210KRT6Bc.471G>T (p.Gln157His)
gnomAD v4
12g.52451608C>GCA384927211KRT6Bc.471G>C (p.Gln157His)
12g.52451608C>TCA480068008KRT6Bc.471G>A (p.Gln157=)
12g.52451608_52451609delinsCTCA2036500753KRT6Bc.470_471delinsAG (p.Gln157=)
12g.52451609delCA6580837KRT6Bc.470del (p.Gln157ArgfsTer28)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451609T>ACA384927212KRT6Bc.470A>T (p.Gln157Leu)
12g.52451609T>CCA384927213KRT6Bc.470A>G (p.Gln157Arg)
COSMIC
12g.52451609T>GCA6580838KRT6Bc.470A>C (p.Gln157Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451609T=CA2036500758KRT6Bc.470A= (p.Gln157=)
12g.52451612_52451615dupCA2795998581KRT6Bc.467_470dup (p.Gln157HisfsTer10)
12g.52451610G>ACA6580839KRT6Bc.469C>T (p.Gln157Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451610G>CCA384927214KRT6Bc.469C>G (p.Gln157Glu)
12g.52451610G=CA2036500763KRT6Bc.469C= (p.Gln157=)
12g.52451610G>TCA384927215KRT6Bc.469C>A (p.Gln157Lys)
12g.52451611G>ACA480068014KRT6Bc.468C>T (p.Ile156=)
COSMIC
12g.52451611G>CCA384927216KRT6Bc.468C>G (p.Ile156Met)
12g.52451611G>TCA480068016KRT6Bc.468C>A (p.Ile156=)
12g.52451612A=CA2036500769KRT6Bc.467T= (p.Ile156=)
12g.52451612A>CCA384927217KRT6Bc.467T>G (p.Ile156Ser)
12g.52451612A>GCA384927218KRT6Bc.467T>C (p.Ile156Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451612A>TCA6580840KRT6Bc.467T>A (p.Ile156Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451613T>ACA384927219KRT6Bc.466A>T (p.Ile156Phe)
12g.52451613T>CCA384927220KRT6Bc.466A>G (p.Ile156Val)
12g.52451613T>GCA384927221KRT6Bc.466A>C (p.Ile156Leu)
12g.52451614G>ACA6580841KRT6Bc.465C>T (p.Ala155=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451614G>CCA480068024KRT6Bc.465C>G (p.Ala155=)
12g.52451614G=CA2036500774KRT6Bc.465C= (p.Ala155=)
12g.52451614G>TCA480068025KRT6Bc.465C>A (p.Ala155=)
12g.52451615G>ACA384927222KRT6Bc.464C>T (p.Ala155Val)
12g.52451615G>CCA384927223KRT6Bc.464C>G (p.Ala155Gly)
12g.52451615G>TCA384927224KRT6Bc.464C>A (p.Ala155Asp)
gnomAD v4
12g.52451616_52451617delCA2618924996KRT6Bc.463_464del (p.Ala155HisfsTer10)
gnomAD v4
12g.52451616C>ACA6580844KRT6Bc.463G>T (p.Ala155Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451616C=CA2036500779KRT6Bc.463G= (p.Ala155=)
12g.52451616C>GCA6580843KRT6Bc.463G>C (p.Ala155Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451616C>TCA6580842KRT6Bc.463G>A (p.Ala155Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451616_52451617delinsCGCA2036500784KRT6Bc.462_463delinsCG (p.Pro154=)
12g.52451616_52451629delCA2575164968KRT6Bc.450_463del (p.Gln151HisfsTer10)
12g.52451617G>ACA6580845KRT6Bc.462C>T (p.Pro154=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451617G>CCA480068031KRT6Bc.462C>G (p.Pro154=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451617G=CA2036500788KRT6Bc.462C= (p.Pro154=)
12g.52451617G>TCA480068033KRT6Bc.462C>A (p.Pro154=)
12g.52451620delCA2036500791KRT6Bc.462del (p.Ala155ProfsTer?)
dbSNP gnomAD v4
12g.52451618G>ACA384927226KRT6Bc.461C>T (p.Pro154Leu)
gnomAD v4
12g.52451618G>CCA384927225KRT6Bc.461C>G (p.Pro154Arg)
gnomAD v4
12g.52451618G>TCA384927227KRT6Bc.461C>A (p.Pro154His)
12g.52451619G>ACA384927228KRT6Bc.460C>T (p.Pro154Ser)
12g.52451619G>CCA384927229KRT6Bc.460C>G (p.Pro154Ala)
12g.52451619G>TCA384927230KRT6Bc.460C>A (p.Pro154Thr)
12g.52451620G>ACA480068041KRT6Bc.459C>T (p.Asp153=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451620G>CCA6580846KRT6Bc.459C>G (p.Asp153Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451620G=CA2036500794KRT6Bc.459C= (p.Asp153=)
12g.52451620G>TCA384927234KRT6Bc.459C>A (p.Asp153Glu)
dbSNP gnomAD v4
12g.52451621T>ACA384927237KRT6Bc.458A>T (p.Asp153Val)
12g.52451621T>CCA384927239KRT6Bc.458A>G (p.Asp153Gly)
dbSNP
12g.52451621T>GCA384927241KRT6Bc.458A>C (p.Asp153Ala)
12g.52451621T=CA2036500798KRT6Bc.458A= (p.Asp153=)
12g.52451622C>ACA384927244KRT6Bc.457G>T (p.Asp153Tyr)
12g.52451622C>GCA384927247KRT6Bc.457G>C (p.Asp153His)
gnomAD v4
12g.52451622C>TCA384927249KRT6Bc.457G>A (p.Asp153Asn)
12g.52451623A=CA2036500801KRT6Bc.456T= (p.Ile152=)
12g.52451623A>CCA384927250KRT6Bc.456T>G (p.Ile152Met)
12g.52451623A>GCA6580847KRT6Bc.456T>C (p.Ile152=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451623A>TCA480068049KRT6Bc.456T>A (p.Ile152=)
12g.52451624A=CA2036500804KRT6Bc.455T= (p.Ile152=)
12g.52451624A>CCA384927253KRT6Bc.455T>G (p.Ile152Ser)
dbSNP gnomAD v4
12g.52451624A>GCA6580848KRT6Bc.455T>C (p.Ile152Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451624A>TCA384927256KRT6Bc.455T>A (p.Ile152Asn)
12g.52451625T>ACA384927261KRT6Bc.454A>T (p.Ile152Phe)
12g.52451625T>CCA384927263KRT6Bc.454A>G (p.Ile152Val)
12g.52451625T>GCA384927265KRT6Bc.454A>C (p.Ile152Leu)
12g.52451627delCA480068056KRT6Bc.454del (p.Ile152LeufsTer?)
12g.52451626T>ACA384927268KRT6Bc.453A>T (p.Gln151His)
12g.52451626T>CCA480068059KRT6Bc.453A>G (p.Gln151=)
12g.52451626T>GCA384927270KRT6Bc.453A>C (p.Gln151His)
12g.52451627T>ACA384927273KRT6Bc.452A>T (p.Gln151Leu)
12g.52451627T>CCA384927275KRT6Bc.452A>G (p.Gln151Arg)
12g.52451627T>GCA384927277KRT6Bc.452A>C (p.Gln151Pro)
gnomAD v4
12g.52451628G>ACA384927281KRT6Bc.451C>T (p.Gln151Ter)
12g.52451628G>CCA384927283KRT6Bc.451C>G (p.Gln151Glu)
12g.52451628G>TCA384927285KRT6Bc.451C>A (p.Gln151Lys)
12g.52451629C>ACA6580849KRT6Bc.450G>T (p.Leu150=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451629C=CA2036500808KRT6Bc.450G= (p.Leu150=)
12g.52451629C>GCA480068069KRT6Bc.450G>C (p.Leu150=)
12g.52451629C>TCA6580850KRT6Bc.450G>A (p.Leu150=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.52451630A=CA2036500811KRT6Bc.449T= (p.Leu150=)
12g.52451630A>CCA6580851KRT6Bc.449T>G (p.Leu150Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451630A>GCA384927287KRT6Bc.449T>C (p.Leu150Pro)
12g.52451630A>TCA384927288KRT6Bc.449T>A (p.Leu150Gln)
12g.52451631G>ACA480068071KRT6Bc.448C>T (p.Leu150=)
gnomAD v4
12g.52451631G>CCA384927289KRT6Bc.448C>G (p.Leu150Val)
COSMIC
12g.52451631G>TCA384927290KRT6Bc.448C>A (p.Leu150Met)
gnomAD v4
12g.52451632delCA2618924997KRT6Bc.448del (p.Leu150CysfsTer?)
gnomAD v4
12g.52451632G>ACA480068076KRT6Bc.447C>T (p.Asn149=)
dbSNP gnomAD v4
12g.52451632G>CCA384927292KRT6Bc.447C>G (p.Asn149Lys)
dbSNP gnomAD v3 gnomAD v4
12g.52451632G=CA2036500814KRT6Bc.447C= (p.Asn149=)
12g.52451632G>TCA384927294KRT6Bc.447C>A (p.Asn149Lys)
dbSNP gnomAD v3 gnomAD v4
12g.52451633T>ACA384927297KRT6Bc.446A>T (p.Asn149Ile)
12g.52451633T>CCA384927299KRT6Bc.446A>G (p.Asn149Ser)
12g.52451633T>GCA384927301KRT6Bc.446A>C (p.Asn149Thr)
12g.52451634T>ACA384927304KRT6Bc.445A>T (p.Asn149Tyr)
12g.52451634T>CCA384927306KRT6Bc.445A>G (p.Asn149Asp)
12g.52451634T>GCA384927308KRT6Bc.445A>C (p.Asn149His)
gnomAD v4
12g.52451635G>ACA480068083KRT6Bc.444C>T (p.Leu148=)
gnomAD v4
12g.52451635G>CCA480068089KRT6Bc.444C>G (p.Leu148=)
gnomAD v4
12g.52451635G>TCA480068084KRT6Bc.444C>A (p.Leu148=)
COSMIC
12g.52451636A>CCA384927314KRT6Bc.443T>G (p.Leu148Arg)
12g.52451636A>GCA384927310KRT6Bc.443T>C (p.Leu148Pro)
12g.52451636A>TCA384927311KRT6Bc.443T>A (p.Leu148His)
12g.52451637G>ACA6580852KRT6Bc.442C>T (p.Leu148Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451637G>CCA384927317KRT6Bc.442C>G (p.Leu148Val)
12g.52451637G=CA2036500818KRT6Bc.442C= (p.Leu148=)
12g.52451637G>TCA384927319KRT6Bc.442C>A (p.Leu148Ile)
gnomAD v4
12g.52451638G>ACA480068098KRT6Bc.441C>T (p.Pro147=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451638G>CCA480068099KRT6Bc.441C>G (p.Pro147=)
12g.52451638G=CA2036500823KRT6Bc.441C= (p.Pro147=)
12g.52451638G>TCA480068100KRT6Bc.441C>A (p.Pro147=)
gnomAD v4 COSMIC
12g.52451639G>ACA384927323KRT6Bc.440C>T (p.Pro147Leu)
dbSNP gnomAD v4 COSMIC
12g.52451639G>CCA384927325KRT6Bc.440C>G (p.Pro147Arg)
12g.52451639G=CA2036500828KRT6Bc.440C= (p.Pro147=)
12g.52451639G>TCA384927327KRT6Bc.440C>A (p.Pro147His)
dbSNP gnomAD v3 gnomAD v4
12g.52451640G>ACA6580853KRT6Bc.439C>T (p.Pro147Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451640G>CCA384927331KRT6Bc.439C>G (p.Pro147Ala)
12g.52451640G=CA2036500836KRT6Bc.439C= (p.Pro147=)
12g.52451640G>TCA384927333KRT6Bc.439C>A (p.Pro147Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451641A>CCA480068106KRT6Bc.438T>G (p.Thr146=)
12g.52451641A>GCA480068107KRT6Bc.438T>C (p.Thr146=)
12g.52451641A>TCA480068109KRT6Bc.438T>A (p.Thr146=)
12g.52451642G>ACA384927337KRT6Bc.437C>T (p.Thr146Ile)
dbSNP gnomAD v2 gnomAD v4
12g.52451642G>CCA384927338KRT6Bc.437C>G (p.Thr146Ser)
12g.52451642G=CA2036500840KRT6Bc.437C= (p.Thr146=)
12g.52451642G>TCA384927341KRT6Bc.437C>A (p.Thr146Asn)
12g.52451643T>ACA384927348KRT6Bc.436A>T (p.Thr146Ser)
12g.52451643T>CCA384927346KRT6Bc.436A>G (p.Thr146Ala)
12g.52451643T>GCA384927344KRT6Bc.436A>C (p.Thr146Pro)
gnomAD v3 gnomAD v4
12g.52451644C>ACA6580854KRT6Bc.435G>T (p.Leu145=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451644C=CA2036500843KRT6Bc.435G= (p.Leu145=)
12g.52451644C>GCA480068115KRT6Bc.435G>C (p.Leu145=)
12g.52451644C>TCA480068120KRT6Bc.435G>A (p.Leu145=)
12g.52451645A=CA2036500848KRT6Bc.434T= (p.Leu145=)
12g.52451645A>CCA384927361KRT6Bc.434T>G (p.Leu145Arg)
12g.52451645A>GCA384927353KRT6Bc.434T>C (p.Leu145Pro)
dbSNP gnomAD v2
12g.52451645A>TCA384927355KRT6Bc.434T>A (p.Leu145Gln)
12g.52451646G>ACA6580855KRT6Bc.433C>T (p.Leu145=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451646G>CCA384927366KRT6Bc.433C>G (p.Leu145Val)
12g.52451646G=CA2036500854KRT6Bc.433C= (p.Leu145=)
12g.52451646G>TCA384927369KRT6Bc.433C>A (p.Leu145Met)
12g.52451647G>ACA480068124KRT6Bc.432C>T (p.Leu144=)
12g.52451647G>CCA6580856KRT6Bc.432C>G (p.Leu144=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451647G=CA2036500857KRT6Bc.432C= (p.Leu144=)
12g.52451647G>TCA480068125KRT6Bc.432C>A (p.Leu144=)
12g.52451648A>CCA384927374KRT6Bc.431T>G (p.Leu144Arg)
12g.52451648A>GCA384927376KRT6Bc.431T>C (p.Leu144Pro)
12g.52451648A>TCA384927378KRT6Bc.431T>A (p.Leu144His)
gnomAD v4
12g.52451649G>ACA384927380KRT6Bc.430C>T (p.Leu144Phe)
COSMIC
12g.52451649G>CCA384927382KRT6Bc.430C>G (p.Leu144Val)
gnomAD v4
12g.52451649G>TCA384927384KRT6Bc.430C>A (p.Leu144Ile)
12g.52451650A>CCA384927389KRT6Bc.429T>G (p.Ser143Arg)
12g.52451650A>GCA480068132KRT6Bc.429T>C (p.Ser143=)
12g.52451650A>TCA384927387KRT6Bc.429T>A (p.Ser143Arg)
12g.52451650_52451652delinsACTCA2036500860KRT6Bc.427_429delinsAGT (p.Ser143=)
12g.52451651C>ACA384927392KRT6Bc.428G>T (p.Ser143Ile)
12g.52451651C=CA2036500863KRT6Bc.428G= (p.Ser143=)
12g.52451651C>GCA384927395KRT6Bc.428G>C (p.Ser143Thr)
gnomAD v4
12g.52451651C>TCA6580858KRT6Bc.428G>A (p.Ser143Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451653_52451654delCA6580857KRT6Bc.427_428del (p.Leu144ProfsTer9)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451652T>ACA384927396KRT6Bc.427A>T (p.Ser143Cys)
12g.52451652T>CCA237194962KRT6Bc.427A>G (p.Ser143Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451652T>GCA6580859KRT6Bc.427A>C (p.Ser143Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451652T=CA2036500865KRT6Bc.427A= (p.Ser143=)
12g.52451653C>ACA384927401KRT6Bc.426G>T (p.Gln142His)
COSMIC
12g.52451653C>GCA384927403KRT6Bc.426G>C (p.Gln142His)
gnomAD v4
12g.52451653C>TCA480068137KRT6Bc.426G>A (p.Gln142=)
12g.52451654T>ACA384927406KRT6Bc.425A>T (p.Gln142Leu)
12g.52451654T>CCA6580860KRT6Bc.425A>G (p.Gln142Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451654T>GCA384927410KRT6Bc.425A>C (p.Gln142Pro)
12g.52451654T=CA2036500868KRT6Bc.425A= (p.Gln142=)
12g.52451655G>ACA6580861KRT6Bc.424C>T (p.Gln142Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451655G>CCA384927416KRT6Bc.424C>G (p.Gln142Glu)
dbSNP gnomAD v2 gnomAD v4
12g.52451655G=CA2036500871KRT6Bc.424C= (p.Gln142=)
12g.52451655G>TCA384927413KRT6Bc.424C>A (p.Gln142Lys)
12g.52451656G>ACA480068144KRT6Bc.423C>T (p.Asn141=)
dbSNP gnomAD v2 gnomAD v4
12g.52451656G>CCA6580862KRT6Bc.423C>G (p.Asn141Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451656G=CA2036500877KRT6Bc.423C= (p.Asn141=)
12g.52451656G>TCA384927420KRT6Bc.423C>A (p.Asn141Lys)
12g.52451657T>ACA384927427KRT6Bc.422A>T (p.Asn141Ile)
12g.52451657T>CCA6580863KRT6Bc.422A>G (p.Asn141Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451657T>GCA384927430KRT6Bc.422A>C (p.Asn141Thr)
12g.52451657T=CA2036500882KRT6Bc.422A= (p.Asn141=)
12g.52451658T>ACA384927433KRT6Bc.421A>T (p.Asn141Tyr)
dbSNP gnomAD v3 gnomAD v4
12g.52451658T>CCA6580864KRT6Bc.421A>G (p.Asn141Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451658T>GCA384927437KRT6Bc.421A>C (p.Asn141His)
gnomAD v4
12g.52451658T=CA2036500889KRT6Bc.421A= (p.Asn141=)
12g.52451659G>ACA480068159KRT6Bc.420C>T (p.Val140=)
gnomAD v4
12g.52451659G>CCA480068157KRT6Bc.420C>G (p.Val140=)
12g.52451659G>TCA480068154KRT6Bc.420C>A (p.Val140=)
12g.52451660A=CA2036500891KRT6Bc.419T= (p.Val140=)
12g.52451660A>CCA384927439KRT6Bc.419T>G (p.Val140Gly)
12g.52451660A>GCA384927440KRT6Bc.419T>C (p.Val140Ala)
12g.52451660A>TCA384927441KRT6Bc.419T>A (p.Val140Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451661C>ACA384927442KRT6Bc.418G>T (p.Val140Phe)
12g.52451661C>GCA384927443KRT6Bc.418G>C (p.Val140Leu)
12g.52451661C>TCA384927446KRT6Bc.418G>A (p.Val140Ile)
gnomAD v4
12g.52451662A=CA2036500894KRT6Bc.417T= (p.Thr139=)
12g.52451662A>CCA480068162KRT6Bc.417T>G (p.Thr139=)
12g.52451662A>GCA6580865KRT6Bc.417T>C (p.Thr139=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451662A>TCA480068166KRT6Bc.417T>A (p.Thr139=)
12g.52451663G>ACA384927447KRT6Bc.416C>T (p.Thr139Ile)
dbSNP gnomAD v4
12g.52451663G>CCA384927449KRT6Bc.416C>G (p.Thr139Ser)
12g.52451663G=CA2036500896KRT6Bc.416C= (p.Thr139=)
12g.52451663G>TCA6580866KRT6Bc.416C>A (p.Thr139Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451664T>ACA384927452KRT6Bc.415A>T (p.Thr139Ser)
dbSNP gnomAD v2 gnomAD v4
12g.52451664T>CCA384927453KRT6Bc.415A>G (p.Thr139Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451664T>GCA384927455KRT6Bc.415A>C (p.Thr139Pro)
12g.52451664T=CA2036500899KRT6Bc.415A= (p.Thr139=)
12g.52451665G>ACA480068175KRT6Bc.414C>T (p.Val138=)
12g.52451665G>CCA480068178KRT6Bc.414C>G (p.Val138=)
gnomAD v4
12g.52451665G>TCA480068180KRT6Bc.414C>A (p.Val138=)
gnomAD v4
12g.52451666A=CA2036500901KRT6Bc.413T= (p.Val138=)
12g.52451666A>CCA384927458KRT6Bc.413T>G (p.Val138Gly)
dbSNP gnomAD v2 gnomAD v4
12g.52451666A>GCA384927460KRT6Bc.413T>C (p.Val138Ala)
12g.52451666A>TCA6580867KRT6Bc.413T>A (p.Val138Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451667C>ACA384927462KRT6Bc.412G>T (p.Val138Phe)
COSMIC
12g.52451667C>GCA384927463KRT6Bc.412G>C (p.Val138Leu)
12g.52451667C>TCA384927465KRT6Bc.412G>A (p.Val138Ile)
12g.52451668C>ACA384927467KRT6Bc.411G>T (p.Glu137Asp)
12g.52451668C=CA2036500904KRT6Bc.411G= (p.Glu137=)
12g.52451668C>GCA384927469KRT6Bc.411G>C (p.Glu137Asp)
12g.52451668C>TCA480068185KRT6Bc.411G>A (p.Glu137=)
dbSNP gnomAD v2 gnomAD v4
12g.52451669T>ACA384927477KRT6Bc.410A>T (p.Glu137Val)
dbSNP gnomAD v3 gnomAD v4
12g.52451669T>CCA384927475KRT6Bc.410A>G (p.Glu137Gly)
gnomAD v4
12g.52451669T>GCA384927472KRT6Bc.410A>C (p.Glu137Ala)
12g.52451669T=CA2036500907KRT6Bc.410A= (p.Glu137=)
12g.52451670C>ACA384927482KRT6Bc.409G>T (p.Glu137Ter)
12g.52451670C>GCA384927479KRT6Bc.409G>C (p.Glu137Gln)
COSMIC
12g.52451670C>TCA384927484KRT6Bc.409G>A (p.Glu137Lys)
gnomAD v4
12g.52451670_52451671delinsCTCA2036500911KRT6Bc.408_409delinsAG (p.Gln136=)
12g.52451671T>ACA384927485KRT6Bc.408A>T (p.Gln136His)
12g.52451671T>CCA480068189KRT6Bc.408A>G (p.Gln136=)
12g.52451671T>GCA384927486KRT6Bc.408A>C (p.Gln136His)
12g.52451672delCA6580868KRT6Bc.408del (p.Glu137ArgfsTer9)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451672T>ACA384927488KRT6Bc.407A>T (p.Gln136Leu)
12g.52451672T>CCA384927492KRT6Bc.407A>G (p.Gln136Arg)
dbSNP gnomAD v3 gnomAD v4
12g.52451672T>GCA384927490KRT6Bc.407A>C (p.Gln136Pro)
12g.52451672T=CA2036500915KRT6Bc.407A= (p.Gln136=)
12g.52451673G>ACA384927495KRT6Bc.406C>T (p.Gln136Ter)
dbSNP gnomAD v2 gnomAD v4
12g.52451673G>CCA384927497KRT6Bc.406C>G (p.Gln136Glu)
12g.52451673G=CA2036500918KRT6Bc.406C= (p.Gln136=)
12g.52451673G>TCA384927496KRT6Bc.406C>A (p.Gln136Lys)
12g.52451674G>ACA480068194KRT6Bc.405C>T (p.Ile135=)
dbSNP gnomAD v3 gnomAD v4
12g.52451674G>CCA384927500KRT6Bc.405C>G (p.Ile135Met)
12g.52451674G=CA2036500923KRT6Bc.405C= (p.Ile135=)
12g.52451674G>TCA480068195KRT6Bc.405C>A (p.Ile135=)
gnomAD v4
12g.52451675A>CCA384927502KRT6Bc.404T>G (p.Ile135Ser)
gnomAD v4
12g.52451675A>GCA384927505KRT6Bc.404T>C (p.Ile135Thr)
gnomAD v4
12g.52451675A>TCA384927507KRT6Bc.404T>A (p.Ile135Asn)
12g.52451676T>ACA384927510KRT6Bc.403A>T (p.Ile135Phe)
12g.52451676T>CCA384927512KRT6Bc.403A>G (p.Ile135Val)
12g.52451676T>GCA384927513KRT6Bc.403A>C (p.Ile135Leu)
12g.52451677G>ACA480068203KRT6Bc.402C>T (p.Gly134=)
dbSNP gnomAD v3 gnomAD v4
12g.52451677G>CCA480068201KRT6Bc.402C>G (p.Gly134=)
12g.52451677G=CA2036500924KRT6Bc.402C= (p.Gly134=)
12g.52451677G>TCA480068200KRT6Bc.402C>A (p.Gly134=)
12g.52451678C>ACA384927515KRT6Bc.401G>T (p.Gly134Val)
12g.52451678C=CA2036500926KRT6Bc.401G= (p.Gly134=)
12g.52451678C>GCA384927519KRT6Bc.401G>C (p.Gly134Ala)
12g.52451678C>TCA6580869KRT6Bc.401G>A (p.Gly134Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451679C>ACA384927529KRT6Bc.400G>T (p.Gly134Cys)
12g.52451679C>GCA384927526KRT6Bc.400G>C (p.Gly134Arg)
12g.52451679C>TCA384927524KRT6Bc.400G>A (p.Gly134Ser)
gnomAD v4
12g.52451680T>ACA480068210KRT6Bc.399A>T (p.Gly133=)
12g.52451680T>CCA480068208KRT6Bc.399A>G (p.Gly133=)
gnomAD v4
12g.52451680T>GCA480068209KRT6Bc.399A>C (p.Gly133=)
12g.52451681C>ACA384927531KRT6Bc.398G>T (p.Gly133Val)
12g.52451681C>GCA384927534KRT6Bc.398G>C (p.Gly133Ala)
12g.52451681C>TCA384927536KRT6Bc.398G>A (p.Gly133Glu)
12g.52451682C>ACA384927539KRT6Bc.397G>T (p.Gly133Ter)
12g.52451682C=CA2036500932KRT6Bc.397G= (p.Gly133=)
12g.52451682C>GCA384927541KRT6Bc.397G>C (p.Gly133Arg)
ClinVar gnomAD v4
12g.52451682C>TCA384927543KRT6Bc.397G>A (p.Gly133Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52451682_52451683delinsCACA2036500931KRT6Bc.396_397delinsTG (p.Pro132=)
12g.52451687_52451698delCA2618925020KRT6Bc.386_397del (p.Val129_Pro132del)
gnomAD v4
12g.52451683delCA605240418KRT6Bc.396del (p.Gly133GlufsTer13)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451683A=CA2036500934KRT6Bc.396T= (p.Pro132=)
12g.52451683A>CCA480068215KRT6Bc.396T>G (p.Pro132=)
12g.52451683A>GCA480068216KRT6Bc.396T>C (p.Pro132=)
dbSNP gnomAD v2 gnomAD v4
12g.52451683A>TCA480068217KRT6Bc.396T>A (p.Pro132=)
12g.52451683_52451684delinsAGCA2036500936KRT6Bc.395_396delinsCT (p.Pro132=)
12g.52451684G>ACA384927546KRT6Bc.395C>T (p.Pro132Leu)
gnomAD v4
12g.52451684G>CCA384927548KRT6Bc.395C>G (p.Pro132Arg)
12g.52451684G>TCA384927551KRT6Bc.395C>A (p.Pro132His)
gnomAD v4
12g.52451689dupCA947697828KRT6Bc.395dup (p.Gly133TrpfsTer21)
dbSNP gnomAD v3 gnomAD v4
12g.52451689delCA6580870KRT6Bc.395del (p.Pro132LeufsTer14)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451685G>ACA384927558KRT6Bc.394C>T (p.Pro132Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451685G>CCA384927556KRT6Bc.394C>G (p.Pro132Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451685G=CA2036500943KRT6Bc.394C= (p.Pro132=)
12g.52451685G>TCA6580871KRT6Bc.394C>A (p.Pro132Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451686G>ACA480068219KRT6Bc.393C>T (p.Pro131=)
12g.52451686G>CCA480068220KRT6Bc.393C>G (p.Pro131=)
12g.52451686G=CA2036500948KRT6Bc.393C= (p.Pro131=)
12g.52451686G>TCA6580872KRT6Bc.393C>A (p.Pro131=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451686_52451703dupCA2618925032KRT6Bc.376_393dup (p.Pro131_Pro132insGlyPheProValCysPro)
gnomAD v4
12g.52451687G>ACA384927562KRT6Bc.392C>T (p.Pro131Leu)
12g.52451687G>CCA6580873KRT6Bc.392C>G (p.Pro131Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451687G=CA2036500952KRT6Bc.392C= (p.Pro131=)
12g.52451687G>TCA384927565KRT6Bc.392C>A (p.Pro131His)
gnomAD v4
12g.52451688G>ACA6580874KRT6Bc.391C>T (p.Pro131Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451688G>CCA384927571KRT6Bc.391C>G (p.Pro131Ala)
dbSNP
12g.52451688G=CA2036500957KRT6Bc.391C= (p.Pro131=)
12g.52451688G>TCA384927572KRT6Bc.391C>A (p.Pro131Thr)
dbSNP gnomAD v2 gnomAD v4
12g.52451689G>ACA480068224KRT6Bc.390C>T (p.Cys130=)
dbSNP gnomAD v3 gnomAD v4
12g.52451689G>CCA384927575KRT6Bc.390C>G (p.Cys130Trp)
12g.52451689G=CA2036500961KRT6Bc.390C= (p.Cys130=)
12g.52451689G>TCA384927577KRT6Bc.390C>A (p.Cys130Ter)
12g.52451690C>ACA384927580KRT6Bc.389G>T (p.Cys130Phe)
dbSNP
12g.52451690C=CA2036500965KRT6Bc.389G= (p.Cys130=)
12g.52451690C>GCA384927582KRT6Bc.389G>C (p.Cys130Ser)
dbSNP gnomAD v2 gnomAD v4
12g.52451690C>TCA384927583KRT6Bc.389G>A (p.Cys130Tyr)
gnomAD v4
12g.52451691A>CCA384927590KRT6Bc.388T>G (p.Cys130Gly)
12g.52451691A>GCA384927585KRT6Bc.388T>C (p.Cys130Arg)
12g.52451691A>TCA384927588KRT6Bc.388T>A (p.Cys130Ser)
12g.52451691_52451692delinsACCA2036500968KRT6Bc.387_388delinsGT (p.Val129=)
12g.52451692delCA2036500973KRT6Bc.387del (p.Cys130AlafsTer16)
dbSNP gnomAD v4
12g.52451692C>ACA480068229KRT6Bc.387G>T (p.Val129=)
12g.52451692C=CA2036500976KRT6Bc.387G= (p.Val129=)
12g.52451692C>GCA480068231KRT6Bc.387G>C (p.Val129=)
12g.52451692C>TCA6580875KRT6Bc.387G>A (p.Val129=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451693A>CCA384927592KRT6Bc.386T>G (p.Val129Gly)
12g.52451693A>GCA384927593KRT6Bc.386T>C (p.Val129Ala)
12g.52451693A>TCA384927595KRT6Bc.386T>A (p.Val129Glu)
12g.52451694C>ACA6580876KRT6Bc.385G>T (p.Val129Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451694C=CA2036500979KRT6Bc.385G= (p.Val129=)
12g.52451694C>GCA384927599KRT6Bc.385G>C (p.Val129Leu)
gnomAD v4
12g.52451694C>TCA384927601KRT6Bc.385G>A (p.Val129Met)
12g.52451695A=CA2036500982KRT6Bc.384T= (p.Pro128=)
12g.52451695A>CCA480068239KRT6Bc.384T>G (p.Pro128=)
12g.52451695A>GCA6580877KRT6Bc.384T>C (p.Pro128=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451695A>TCA480068236KRT6Bc.384T>A (p.Pro128=)
gnomAD v4
12g.52451695_52451696delinsAGCA2036500984KRT6Bc.383_384delinsCT (p.Pro128=)
12g.52451696G>ACA384927605KRT6Bc.383C>T (p.Pro128Leu)
gnomAD v4
12g.52451696G>CCA384927607KRT6Bc.383C>G (p.Pro128Arg)
12g.52451696G>TCA384927609KRT6Bc.383C>A (p.Pro128His)
12g.52451698delCA947697834KRT6Bc.383del (p.Pro128LeufsTer18)
dbSNP gnomAD v3 gnomAD v4
12g.52451697G>ACA6580879KRT6Bc.382C>T (p.Pro128Ser)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.52451697G>CCA6580878KRT6Bc.382C>G (p.Pro128Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451697G=CA2036500989KRT6Bc.382C= (p.Pro128=)
12g.52451697G>TCA384927612KRT6Bc.382C>A (p.Pro128Thr)
12g.52451698G>ACA480068247KRT6Bc.381C>T (p.Phe127=)
gnomAD v4 COSMIC
12g.52451698G>CCA384927618KRT6Bc.381C>G (p.Phe127Leu)
COSMIC
12g.52451698G>TCA384927620KRT6Bc.381C>A (p.Phe127Leu)
12g.52451698_52451699dupCA2036500991KRT6Bc.380_381dup (p.Pro128SerfsTer19)
dbSNP
12g.52451699A=CA2036500994KRT6Bc.380T= (p.Phe127=)
12g.52451699A>CCA6580880KRT6Bc.380T>G (p.Phe127Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451699A>GCA384927623KRT6Bc.380T>C (p.Phe127Ser)
12g.52451699A>TCA384927625KRT6Bc.380T>A (p.Phe127Tyr)

Number of alleles fetched