Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52451556C>ACA384926229KRT6Bc.523G>T (p.Ala175Ser)
gnomAD v4
12g.52451556C=CA2036500624KRT6Bc.523G= (p.Ala175=)
12g.52451556C>GCA384926230KRT6Bc.523G>C (p.Ala175Pro)
12g.52451556C>TCA6580817KRT6Bc.523G>A (p.Ala175Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451557A>CCA384926235KRT6Bc.522T>G (p.Phe174Leu)
12g.52451557A>GCA479848112KRT6Bc.522T>C (p.Phe174=)
gnomAD v4
12g.52451557A>TCA384926233KRT6Bc.522T>A (p.Phe174Leu)
12g.52451558A>CCA384926237KRT6Bc.521T>G (p.Phe174Cys)
12g.52451558A>GCA384926239KRT6Bc.521T>C (p.Phe174Ser)
12g.52451558A>TCA384926241KRT6Bc.521T>A (p.Phe174Tyr)
12g.52451559A>CCA384926243KRT6Bc.520T>G (p.Phe174Val)
12g.52451559A>GCA384926245KRT6Bc.520T>C (p.Phe174Leu)
12g.52451559A>TCA384926247KRT6Bc.520T>A (p.Phe174Ile)
12g.52451560C>ACA384926249KRT6Bc.519G>T (p.Lys173Asn)
12g.52451560C=CA2036500625KRT6Bc.519G= (p.Lys173=)
12g.52451560C>GCA384926252KRT6Bc.519G>C (p.Lys173Asn)
dbSNP gnomAD v4
12g.52451560C>TCA237194666KRT6Bc.519G>A (p.Lys173=)
dbSNP gnomAD v2 gnomAD v4
12g.52451560_52451563delinsCTTGCA2036500627KRT6Bc.516_519delinsCAAG (p.Asn172=)
12g.52451561T>ACA384926254KRT6Bc.518A>T (p.Lys173Met)
12g.52451561T>CCA384926257KRT6Bc.518A>G (p.Lys173Arg)
12g.52451561T>GCA384926259KRT6Bc.518A>C (p.Lys173Thr)
gnomAD v4
12g.52451567_52451569delCA217368KRT6Bc.516_518del (p.Asn172del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451562T>ACA384926261KRT6Bc.517A>T (p.Lys173Ter)
12g.52451562T>CCA384926263KRT6Bc.517A>G (p.Lys173Glu)
12g.52451562T>GCA384926265KRT6Bc.517A>C (p.Lys173Gln)
12g.52451563G>ACA479848117KRT6Bc.516C>T (p.Asn172=)
gnomAD v4
12g.52451563G>CCA384926267KRT6Bc.516C>G (p.Asn172Lys)
gnomAD v4
12g.52451563G>TCA384926269KRT6Bc.516C>A (p.Asn172Lys)
gnomAD v4
12g.52451564T>ACA384926271KRT6Bc.515A>T (p.Asn172Ile)
12g.52451564T>CCA384926272KRT6Bc.515A>G (p.Asn172Ser)
dbSNP gnomAD v2 gnomAD v4
12g.52451564T>GCA384926275KRT6Bc.515A>C (p.Asn172Thr)
12g.52451564T=CA2036500637KRT6Bc.515A= (p.Asn172=)
12g.52451565T>ACA384926276KRT6Bc.514A>T (p.Asn172Tyr)
12g.52451565T>CCA384926280KRT6Bc.514A>G (p.Asn172Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451565T>GCA384926278KRT6Bc.514A>C (p.Asn172His)
12g.52451565T=CA2036500640KRT6Bc.514A= (p.Asn172=)
12g.52451566G>ACA6580818KRT6Bc.513C>T (p.Asn171=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451566G>CCA384926285KRT6Bc.513C>G (p.Asn171Lys)
12g.52451566G=CA2036500643KRT6Bc.513C= (p.Asn171=)
12g.52451566G>TCA384926283KRT6Bc.513C>A (p.Asn171Lys)
12g.52451567T>ACA384926288KRT6Bc.512A>T (p.Asn171Ile)
12g.52451567T>CCA384926294KRT6Bc.512A>G (p.Asn171Ser)
gnomAD v4
12g.52451567T>GCA384926289KRT6Bc.512A>C (p.Asn171Thr)
12g.52451568dupCA2618924957KRT6Bc.512dup (p.Asn171LysfsTer?)
gnomAD v4
12g.52451568T>ACA384927014KRT6Bc.511A>T (p.Asn171Tyr)
12g.52451568T>CCA384927017KRT6Bc.511A>G (p.Asn171Asp)
dbSNP gnomAD v2
12g.52451568T>GCA384927020KRT6Bc.511A>C (p.Asn171His)
12g.52451568T=CA2036500645KRT6Bc.511A= (p.Asn171=)
12g.52451569G>ACA480067943KRT6Bc.510C>T (p.Leu170=)
12g.52451569G>CCA480067944KRT6Bc.510C>G (p.Leu170=)
12g.52451569G>TCA480067945KRT6Bc.510C>A (p.Leu170=)
12g.52451570A>CCA384927024KRT6Bc.509T>G (p.Leu170Arg)
12g.52451570A>GCA384927025KRT6Bc.509T>C (p.Leu170Pro)
gnomAD v4
12g.52451570A>TCA384927028KRT6Bc.509T>A (p.Leu170His)
12g.52451571G>ACA384927029KRT6Bc.508C>T (p.Leu170Phe)
gnomAD v4
12g.52451571G>CCA384927030KRT6Bc.508C>G (p.Leu170Val)
gnomAD v4
12g.52451571G>TCA384927031KRT6Bc.508C>A (p.Leu170Ile)
gnomAD v4 COSMIC
12g.52451572G>ACA480067947KRT6Bc.507C>T (p.Thr169=)
12g.52451572G>CCA6580819KRT6Bc.507C>G (p.Thr169=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451572G=CA2036500654KRT6Bc.507C= (p.Thr169=)
12g.52451572G>TCA480067948KRT6Bc.507C>A (p.Thr169=)
12g.52451573G>ACA384927034KRT6Bc.506C>T (p.Thr169Ile)
12g.52451573G>CCA384927036KRT6Bc.506C>G (p.Thr169Ser)
dbSNP gnomAD v4
12g.52451573G=CA2036500659KRT6Bc.506C= (p.Thr169=)
12g.52451573G>TCA384927038KRT6Bc.506C>A (p.Thr169Asn)
gnomAD v4
12g.52451574T>ACA384927045KRT6Bc.505A>T (p.Thr169Ser)
12g.52451574T>CCA384927041KRT6Bc.505A>G (p.Thr169Ala)
12g.52451574T>GCA384927043KRT6Bc.505A>C (p.Thr169Pro)
12g.52451575C>ACA384927047KRT6Bc.504G>T (p.Lys168Asn)
12g.52451575C>GCA384927049KRT6Bc.504G>C (p.Lys168Asn)
12g.52451575C>TCA480067951KRT6Bc.504G>A (p.Lys168=)
12g.52451576T>ACA384927052KRT6Bc.503A>T (p.Lys168Met)
12g.52451576T>CCA384927054KRT6Bc.503A>G (p.Lys168Arg)
gnomAD v4
12g.52451576T>GCA384927056KRT6Bc.503A>C (p.Lys168Thr)
12g.52451577T>ACA384927059KRT6Bc.502A>T (p.Lys168Ter)
12g.52451577T>CCA384927061KRT6Bc.502A>G (p.Lys168Glu)
gnomAD v4
12g.52451577T>GCA384927063KRT6Bc.502A>C (p.Lys168Gln)
gnomAD v4
12g.52451577_52451578delinsTGCA2036500662KRT6Bc.501_502delinsCA (p.Ile167=)
12g.52451578delCA605240416KRT6Bc.501del (p.Lys168ArgfsTer17)
dbSNP gnomAD v2 gnomAD v4
12g.52451578G>ACA480067955KRT6Bc.501C>T (p.Ile167=)
12g.52451578G>CCA384927065KRT6Bc.501C>G (p.Ile167Met)
gnomAD v4 COSMIC
12g.52451578G>TCA480067957KRT6Bc.501C>A (p.Ile167=)
12g.52451578_52451584dupCA912996275KRT6Bc.495_501dup (p.Lys168AlafsTer?)
12g.52451579A>CCA384927067KRT6Bc.500T>G (p.Ile167Ser)
12g.52451579A>GCA384927069KRT6Bc.500T>C (p.Ile167Thr)
12g.52451579A>TCA384927072KRT6Bc.500T>A (p.Ile167Asn)
12g.52451580T>ACA384927074KRT6Bc.499A>T (p.Ile167Phe)
12g.52451580T>CCA384927079KRT6Bc.499A>G (p.Ile167Val)
12g.52451580T>GCA384927077KRT6Bc.499A>C (p.Ile167Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451580T=CA2036500669KRT6Bc.499A= (p.Ile167=)
12g.52451581C>ACA384927084KRT6Bc.498G>T (p.Gln166His)
12g.52451581C=CA2036500674KRT6Bc.498G= (p.Gln166=)
12g.52451581C>GCA384927085KRT6Bc.498G>C (p.Gln166His)
dbSNP gnomAD v2 gnomAD v4
12g.52451581C>TCA480067958KRT6Bc.498G>A (p.Gln166=)
dbSNP gnomAD v2 gnomAD v4
12g.52451582T>ACA384927086KRT6Bc.497A>T (p.Gln166Leu)
12g.52451582T>CCA384927087KRT6Bc.497A>G (p.Gln166Arg)
12g.52451582T>GCA384927088KRT6Bc.497A>C (p.Gln166Pro)
12g.52451583G>ACA384927091KRT6Bc.496C>T (p.Gln166Ter)
12g.52451583G>CCA384927092KRT6Bc.496C>G (p.Gln166Glu)
gnomAD v4
12g.52451583G>TCA384927094KRT6Bc.496C>A (p.Gln166Lys)
12g.52451583_52451584delinsGCCA2036500679KRT6Bc.495_496delinsGC (p.Glu165=)
12g.52451584delCA6580820KRT6Bc.495del (p.Glu165AspfsTer20)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451584C>ACA384927098KRT6Bc.495G>T (p.Glu165Asp)
12g.52451584C=CA2036500683KRT6Bc.495G= (p.Glu165=)
12g.52451584C>GCA384927100KRT6Bc.495G>C (p.Glu165Asp)
12g.52451584C>TCA6580821KRT6Bc.495G>A (p.Glu165=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451585delCA384927108KRT6Bc.494del (p.Glu165GlyfsTer20)
12g.52451585T>ACA384927111KRT6Bc.494A>T (p.Glu165Val)
12g.52451585T>CCA384927106KRT6Bc.494A>G (p.Glu165Gly)
gnomAD v4
12g.52451585T>GCA384927110KRT6Bc.494A>C (p.Glu165Ala)
12g.52451586C>ACA384927112KRT6Bc.493G>T (p.Glu165Ter)
12g.52451586C>GCA384927114KRT6Bc.493G>C (p.Glu165Gln)
12g.52451586C>TCA384927116KRT6Bc.493G>A (p.Glu165Lys)
gnomAD v4
12g.52451587A=CA2036500688KRT6Bc.492T= (p.Arg164=)
12g.52451587A>CCA480067962KRT6Bc.492T>G (p.Arg164=)
12g.52451587A>GCA480067963KRT6Bc.492T>C (p.Arg164=)
gnomAD v4
12g.52451587A>TCA6580822KRT6Bc.492T>A (p.Arg164=)
dbSNP ExAC gnomAD v3 gnomAD v4
12g.52451588delCA2618924978KRT6Bc.491del (p.Arg164LeufsTer21)
gnomAD v4
12g.52451588C>ACA384927120KRT6Bc.491G>T (p.Arg164Leu)
dbSNP gnomAD v2 gnomAD v4
12g.52451588C=CA2036500693KRT6Bc.491G= (p.Arg164=)
12g.52451588C>GCA384927122KRT6Bc.491G>C (p.Arg164Pro)
dbSNP gnomAD v3 gnomAD v4
12g.52451588C>TCA6580823KRT6Bc.491G>A (p.Arg164His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451589G>ACA6580824KRT6Bc.490C>T (p.Arg164Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451589G>CCA384927126KRT6Bc.490C>G (p.Arg164Gly)
gnomAD v4
12g.52451589G=CA2036500698KRT6Bc.490C= (p.Arg164=)
12g.52451589G>TCA6580825KRT6Bc.490C>A (p.Arg164Ser)
dbSNP ExAC gnomAD v2
12g.52451590C>ACA384927133KRT6Bc.489G>T (p.Glu163Asp)
12g.52451590C>GCA384927130KRT6Bc.489G>C (p.Glu163Asp)
12g.52451590C>TCA480067968KRT6Bc.489G>A (p.Glu163=)
gnomAD v4
12g.52451591T>ACA384927135KRT6Bc.488A>T (p.Glu163Val)
12g.52451591T>CCA384927137KRT6Bc.488A>G (p.Glu163Gly)
12g.52451591T>GCA384927140KRT6Bc.488A>C (p.Glu163Ala)
12g.52451592C>ACA384927142KRT6Bc.487G>T (p.Glu163Ter)
12g.52451592C>GCA384927145KRT6Bc.487G>C (p.Glu163Gln)
12g.52451592C>TCA384927147KRT6Bc.487G>A (p.Glu163Lys)
gnomAD v4 COSMIC
12g.52451593C>ACA384927150KRT6Bc.486G>T (p.Glu162Asp)
12g.52451593C=CA2036500704KRT6Bc.486G= (p.Glu162=)
12g.52451593C>GCA384927152KRT6Bc.486G>C (p.Glu162Asp)
12g.52451593C>TCA480067971KRT6Bc.486G>A (p.Glu162=)
dbSNP gnomAD v2 gnomAD v4
12g.52451594T>ACA384927155KRT6Bc.485A>T (p.Glu162Val)
12g.52451594T>CCA384927158KRT6Bc.485A>G (p.Glu162Gly)
12g.52451594T>GCA384927160KRT6Bc.485A>C (p.Glu162Ala)
12g.52451595C>ACA384927163KRT6Bc.484G>T (p.Glu162Ter)
gnomAD v4
12g.52451595C=CA2036500707KRT6Bc.484G= (p.Glu162=)
12g.52451595C>GCA384927165KRT6Bc.484G>C (p.Glu162Gln)
12g.52451595C>TCA6580826KRT6Bc.484G>A (p.Glu162Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52451596G>ACA6580827KRT6Bc.483C>T (p.Ala161=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52451596G>CCA480067975KRT6Bc.483C>G (p.Ala161=)
gnomAD v4
12g.52451596G=CA2036500712KRT6Bc.483C= (p.Ala161=)
12g.52451596G>TCA6580828KRT6Bc.483C>A (p.Ala161=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451597G>ACA384927173KRT6Bc.482C>T (p.Ala161Val)
12g.52451597G>CCA384927176KRT6Bc.482C>G (p.Ala161Gly)
12g.52451597G>TCA384927178KRT6Bc.482C>A (p.Ala161Asp)
12g.52451598C>ACA384927181KRT6Bc.481G>T (p.Ala161Ser)
12g.52451598C=CA2036500719KRT6Bc.481G= (p.Ala161=)
12g.52451598C>GCA384927183KRT6Bc.481G>C (p.Ala161Pro)
12g.52451598C>TCA6580829KRT6Bc.481G>A (p.Ala161Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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)

Number of alleles fetched