Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52904698A>CCA384996980KRT8c.284T>G (p.Ile95Ser)
c.518T>G (p.Ile173Ser)
n.355T>G
c.404T>G (p.Ile135Ser)
n.347T>G
c.368T>G (p.Ile123Ser)
n.741T>G
n.735T>G
12g.52904698A>GCA384996981KRT8c.284T>C (p.Ile95Thr)
c.518T>C (p.Ile173Thr)
n.355T>C
c.404T>C (p.Ile135Thr)
n.347T>C
c.368T>C (p.Ile123Thr)
n.741T>C
n.735T>C
12g.52904698A>TCA384996982KRT8c.284T>A (p.Ile95Asn)
c.518T>A (p.Ile173Asn)
n.355T>A
c.404T>A (p.Ile135Asn)
n.347T>A
c.368T>A (p.Ile123Asn)
n.741T>A
n.735T>A
 COSMIC
12g.52904699T>ACA384996983KRT8c.283A>T (p.Ile95Phe)
c.517A>T (p.Ile173Phe)
n.354A>T
c.403A>T (p.Ile135Phe)
n.346A>T
c.367A>T (p.Ile123Phe)
n.740A>T
n.734A>T
12g.52904699T>CCA384996984KRT8c.283A>G (p.Ile95Val)
c.517A>G (p.Ile173Val)
n.354A>G
c.403A>G (p.Ile135Val)
n.346A>G
c.367A>G (p.Ile123Val)
n.740A>G
n.734A>G
12g.52904699T>GCA6590582KRT8c.283A>C (p.Ile95Leu)
c.517A>C (p.Ile173Leu)
n.354A>C
c.403A>C (p.Ile135Leu)
n.346A>C
c.367A>C (p.Ile123Leu)
n.740A>C
n.734A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52904699T=CA2036710148KRT8c.283A= (p.Ile95=)
c.517A= (p.Ile173=)
n.354A=
c.403A= (p.Ile135=)
n.346A=
c.367A= (p.Ile123=)
n.740A=
n.734A=
12g.52904700C>ACA384996985KRT8c.282G>T (p.Gln94His)
c.516G>T (p.Gln172His)
n.353G>T
c.402G>T (p.Gln134His)
n.345G>T
c.366G>T (p.Gln122His)
n.739G>T
n.733G>T
12g.52904700C=CA2036710153KRT8c.282G= (p.Gln94=)
c.516G= (p.Gln172=)
n.353G=
c.402G= (p.Gln134=)
n.345G=
c.366G= (p.Gln122=)
n.739G=
n.733G=
12g.52904700C>GCA6590583KRT8c.282G>C (p.Gln94His)
c.516G>C (p.Gln172His)
n.353G>C
c.402G>C (p.Gln134His)
n.345G>C
c.366G>C (p.Gln122His)
n.739G>C
n.733G>C
 dbSNP ExAC
12g.52904700C>TCA480077762KRT8c.282G>A (p.Gln94=)
c.516G>A (p.Gln172=)
n.353G>A
c.402G>A (p.Gln134=)
n.345G>A
c.366G>A (p.Gln122=)
n.739G>A
n.733G>A
 gnomAD v4
12g.52904701T>ACA384996986KRT8c.281A>T (p.Gln94Leu)
c.515A>T (p.Gln172Leu)
n.352A>T
c.401A>T (p.Gln134Leu)
n.344A>T
c.365A>T (p.Gln122Leu)
n.738A>T
n.732A>T
12g.52904701T>CCA384996988KRT8c.281A>G (p.Gln94Arg)
c.515A>G (p.Gln172Arg)
n.352A>G
c.401A>G (p.Gln134Arg)
n.344A>G
c.365A>G (p.Gln122Arg)
n.738A>G
n.732A>G
12g.52904701T>GCA384996987KRT8c.281A>C (p.Gln94Pro)
c.515A>C (p.Gln172Pro)
n.352A>C
c.401A>C (p.Gln134Pro)
n.344A>C
c.365A>C (p.Gln122Pro)
n.738A>C
n.732A>C
12g.52904702G>ACA384996989KRT8c.280C>T (p.Gln94Ter)
c.514C>T (p.Gln172Ter)
n.351C>T
c.400C>T (p.Gln134Ter)
n.343C>T
c.364C>T (p.Gln122Ter)
n.737C>T
n.731C>T
 gnomAD v4
12g.52904702G>CCA384996991KRT8c.280C>G (p.Gln94Glu)
c.514C>G (p.Gln172Glu)
n.351C>G
c.400C>G (p.Gln134Glu)
n.343C>G
c.364C>G (p.Gln122Glu)
n.737C>G
n.731C>G
 gnomAD v4
12g.52904702G>TCA384996990KRT8c.280C>A (p.Gln94Lys)
c.514C>A (p.Gln172Lys)
n.351C>A
c.400C>A (p.Gln134Lys)
n.343C>A
c.364C>A (p.Gln122Lys)
n.737C>A
n.731C>A
12g.52904702_52904704delinsGCTCA2036710159KRT8c.278_280delinsAGC (p.Glu93=)
c.512_514delinsAGC (p.Glu171=)
n.349_351delinsAGC
c.398_400delinsAGC (p.Glu133=)
n.341_343delinsAGC
c.362_364delinsAGC (p.Glu121=)
n.735_737delinsAGC
n.729_731delinsAGC
12g.52904703C>ACA384996992KRT8c.279G>T (p.Glu93Asp)
c.513G>T (p.Glu171Asp)
n.350G>T
c.399G>T (p.Glu133Asp)
n.342G>T
c.363G>T (p.Glu121Asp)
n.736G>T
n.730G>T
12g.52904703C=CA2036710162KRT8c.279G= (p.Glu93=)
c.513G= (p.Glu171=)
n.350G=
c.399G= (p.Glu133=)
n.342G=
c.363G= (p.Glu121=)
n.736G=
n.730G=
12g.52904703C>GCA384996993KRT8c.279G>C (p.Glu93Asp)
c.513G>C (p.Glu171Asp)
n.350G>C
c.399G>C (p.Glu133Asp)
n.342G>C
c.363G>C (p.Glu121Asp)
n.736G>C
n.730G>C
12g.52904703C>TCA6590584KRT8c.279G>A (p.Glu93=)
c.513G>A (p.Glu171=)
n.350G>A
c.399G>A (p.Glu133=)
n.342G>A
c.363G>A (p.Glu121=)
n.736G>A
n.730G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52904704_52904705delCA605242194KRT8c.278_279del (p.Glu93AlafsTer?)
c.512_513del (p.Glu171AlafsTer?)
n.349_350del
c.398_399del (p.Glu133AlafsTer?)
n.341_342del
c.362_363del (p.Glu121AlafsTer?)
n.735_736del
n.729_730del
 dbSNP gnomAD v2 gnomAD v4
12g.52904704T>ACA384996994KRT8c.278A>T (p.Glu93Val)
c.512A>T (p.Glu171Val)
n.349A>T
c.398A>T (p.Glu133Val)
n.341A>T
c.362A>T (p.Glu121Val)
n.735A>T
n.729A>T
12g.52904704T>CCA384996995KRT8c.278A>G (p.Glu93Gly)
c.512A>G (p.Glu171Gly)
n.349A>G
c.398A>G (p.Glu133Gly)
n.341A>G
c.362A>G (p.Glu121Gly)
n.735A>G
n.729A>G
12g.52904704T>GCA384996996KRT8c.278A>C (p.Glu93Ala)
c.512A>C (p.Glu171Ala)
n.349A>C
c.398A>C (p.Glu133Ala)
n.341A>C
c.362A>C (p.Glu121Ala)
n.735A>C
n.729A>C
12g.52904705C>ACA384996997KRT8c.277G>T (p.Glu93Ter)
c.511G>T (p.Glu171Ter)
n.348G>T
c.397G>T (p.Glu133Ter)
n.340G>T
c.361G>T (p.Glu121Ter)
n.734G>T
n.728G>T
12g.52904705C>GCA384996998KRT8c.277G>C (p.Glu93Gln)
c.511G>C (p.Glu171Gln)
n.348G>C
c.397G>C (p.Glu133Gln)
n.340G>C
c.361G>C (p.Glu121Gln)
n.734G>C
n.728G>C
12g.52904705C>TCA384996999KRT8c.277G>A (p.Glu93Lys)
c.511G>A (p.Glu171Lys)
n.348G>A
c.397G>A (p.Glu133Lys)
n.340G>A
c.361G>A (p.Glu121Lys)
n.734G>A
n.728G>A
12g.52904706C>ACA384997000KRT8c.276G>T (p.Lys92Asn)
c.510G>T (p.Lys170Asn)
n.347G>T
c.396G>T (p.Lys132Asn)
n.339G>T
c.360G>T (p.Lys120Asn)
n.733G>T
n.727G>T
12g.52904706C=CA2036710165KRT8c.276G= (p.Lys92=)
c.510G= (p.Lys170=)
n.347G=
c.396G= (p.Lys132=)
n.339G=
c.360G= (p.Lys120=)
n.733G=
n.727G=
12g.52904706C>GCA384997001KRT8c.276G>C (p.Lys92Asn)
c.510G>C (p.Lys170Asn)
n.347G>C
c.396G>C (p.Lys132Asn)
n.339G>C
c.360G>C (p.Lys120Asn)
n.733G>C
n.727G>C
12g.52904706C>TCA480077775KRT8c.276G>A (p.Lys92=)
c.510G>A (p.Lys170=)
n.347G>A
c.396G>A (p.Lys132=)
n.339G>A
c.360G>A (p.Lys120=)
n.733G>A
n.727G>A
 dbSNP gnomAD v2 gnomAD v4
12g.52904707T>ACA384997002KRT8c.275A>T (p.Lys92Met)
c.509A>T (p.Lys170Met)
n.346A>T
c.395A>T (p.Lys132Met)
n.338A>T
c.359A>T (p.Lys120Met)
n.732A>T
n.726A>T
12g.52904707T>CCA384997003KRT8c.275A>G (p.Lys92Arg)
c.509A>G (p.Lys170Arg)
n.346A>G
c.395A>G (p.Lys132Arg)
n.338A>G
c.359A>G (p.Lys120Arg)
n.732A>G
n.726A>G
12g.52904707T>GCA384997004KRT8c.275A>C (p.Lys92Thr)
c.509A>C (p.Lys170Thr)
n.346A>C
c.395A>C (p.Lys132Thr)
n.338A>C
c.359A>C (p.Lys120Thr)
n.732A>C
n.726A>C
12g.52904708T>ACA384997007KRT8c.274A>T (p.Lys92Ter)
c.508A>T (p.Lys170Ter)
n.345A>T
c.394A>T (p.Lys132Ter)
n.337A>T
c.358A>T (p.Lys120Ter)
n.731A>T
n.725A>T
12g.52904708T>CCA384997006KRT8c.274A>G (p.Lys92Glu)
c.508A>G (p.Lys170Glu)
n.345A>G
c.394A>G (p.Lys132Glu)
n.337A>G
c.358A>G (p.Lys120Glu)
n.731A>G
n.725A>G
12g.52904708T>GCA384997005KRT8c.274A>C (p.Lys92Gln)
c.508A>C (p.Lys170Gln)
n.345A>C
c.394A>C (p.Lys132Gln)
n.337A>C
c.358A>C (p.Lys120Gln)
n.731A>C
n.725A>C
12g.52904709C>ACA384997008KRT8c.273G>T (p.Glu91Asp)
c.507G>T (p.Glu169Asp)
n.344G>T
c.393G>T (p.Glu131Asp)
n.336G>T
c.357G>T (p.Glu119Asp)
n.730G>T
n.724G>T
12g.52904709C>GCA384997009KRT8c.273G>C (p.Glu91Asp)
c.507G>C (p.Glu169Asp)
n.344G>C
c.393G>C (p.Glu131Asp)
n.336G>C
c.357G>C (p.Glu119Asp)
n.730G>C
n.724G>C
12g.52904709C>TCA480077780KRT8c.273G>A (p.Glu91=)
c.507G>A (p.Glu169=)
n.344G>A
c.393G>A (p.Glu131=)
n.336G>A
c.357G>A (p.Glu119=)
n.730G>A
n.724G>A
12g.52904710T>ACA384997010KRT8c.272A>T (p.Glu91Val)
c.506A>T (p.Glu169Val)
n.343A>T
c.392A>T (p.Glu131Val)
n.335A>T
c.356A>T (p.Glu119Val)
n.729A>T
n.723A>T
12g.52904710T>CCA384997011KRT8c.272A>G (p.Glu91Gly)
c.506A>G (p.Glu169Gly)
n.343A>G
c.392A>G (p.Glu131Gly)
n.335A>G
c.356A>G (p.Glu119Gly)
n.729A>G
n.723A>G
12g.52904710T>GCA384997012KRT8c.272A>C (p.Glu91Ala)
c.506A>C (p.Glu169Ala)
n.343A>C
c.392A>C (p.Glu131Ala)
n.335A>C
c.356A>C (p.Glu119Ala)
n.729A>C
n.723A>C
12g.52904711C>ACA384997013KRT8c.271G>T (p.Glu91Ter)
c.505G>T (p.Glu169Ter)
n.342G>T
c.391G>T (p.Glu131Ter)
n.334G>T
c.355G>T (p.Glu119Ter)
n.728G>T
n.722G>T
12g.52904711C>GCA384997014KRT8c.271G>C (p.Glu91Gln)
c.505G>C (p.Glu169Gln)
n.342G>C
c.391G>C (p.Glu131Gln)
n.334G>C
c.355G>C (p.Glu119Gln)
n.728G>C
n.722G>C
12g.52904711C>TCA384997015KRT8c.271G>A (p.Glu91Lys)
c.505G>A (p.Glu169Lys)
n.342G>A
c.391G>A (p.Glu131Lys)
n.334G>A
c.355G>A (p.Glu119Lys)
n.728G>A
n.722G>A
12g.52904712C>ACA384997016KRT8c.270G>T (p.Gln90His)
c.504G>T (p.Gln168His)
n.341G>T
c.390G>T (p.Gln130His)
n.333G>T
c.354G>T (p.Gln118His)
n.727G>T
n.721G>T
12g.52904712C=CA2036710171KRT8c.270G= (p.Gln90=)
c.504G= (p.Gln168=)
n.341G=
c.390G= (p.Gln130=)
n.333G=
c.354G= (p.Gln118=)
n.727G=
n.721G=
12g.52904712C>GCA384997017KRT8c.270G>C (p.Gln90His)
c.504G>C (p.Gln168His)
n.341G>C
c.390G>C (p.Gln130His)
n.333G>C
c.354G>C (p.Gln118His)
n.727G>C
n.721G>C
12g.52904712C>TCA6590585KRT8c.270G>A (p.Gln90=)
c.504G>A (p.Gln168=)
n.341G>A
c.390G>A (p.Gln130=)
n.333G>A
c.354G>A (p.Gln118=)
n.727G>A
n.721G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52904713T>ACA384997018KRT8c.269A>T (p.Gln90Leu)
c.503A>T (p.Gln168Leu)
n.340A>T
c.389A>T (p.Gln130Leu)
n.332A>T
c.353A>T (p.Gln118Leu)
n.726A>T
n.720A>T
12g.52904713T>CCA384997019KRT8c.269A>G (p.Gln90Arg)
c.503A>G (p.Gln168Arg)
n.340A>G
c.389A>G (p.Gln130Arg)
n.332A>G
c.353A>G (p.Gln118Arg)
n.726A>G
n.720A>G
 gnomAD v4
12g.52904713T>GCA384997020KRT8c.269A>C (p.Gln90Pro)
c.503A>C (p.Gln168Pro)
n.340A>C
c.389A>C (p.Gln130Pro)
n.332A>C
c.353A>C (p.Gln118Pro)
n.726A>C
n.720A>C
12g.52904714G>ACA384997022KRT8c.268C>T (p.Gln90Ter)
c.502C>T (p.Gln168Ter)
n.339C>T
c.388C>T (p.Gln130Ter)
n.331C>T
c.352C>T (p.Gln118Ter)
n.725C>T
n.719C>T
12g.52904714G>CCA237304339KRT8c.268C>G (p.Gln90Glu)
c.502C>G (p.Gln168Glu)
n.339C>G
c.388C>G (p.Gln130Glu)
n.331C>G
c.352C>G (p.Gln118Glu)
n.725C>G
n.719C>G
 dbSNP gnomAD v3 gnomAD v4
12g.52904714G=CA2036710175KRT8c.268C= (p.Gln90=)
c.502C= (p.Gln168=)
n.339C=
c.388C= (p.Gln130=)
n.331C=
c.352C= (p.Gln118=)
n.725C=
n.719C=
12g.52904714G>TCA384997021KRT8c.268C>A (p.Gln90Lys)
c.502C>A (p.Gln168Lys)
n.339C>A
c.388C>A (p.Gln130Lys)
n.331C>A
c.352C>A (p.Gln118Lys)
n.725C>A
n.719C>A
12g.52904715G>ACA237304363KRT8c.267C>T (p.Thr89=)
c.501C>T (p.Thr167=)
n.338C>T
c.387C>T (p.Thr129=)
n.330C>T
c.351C>T (p.Thr117=)
n.724C>T
n.718C>T
 dbSNP
12g.52904715G>CCA480077791KRT8c.267C>G (p.Thr89=)
c.501C>G (p.Thr167=)
n.338C>G
c.387C>G (p.Thr129=)
n.330C>G
c.351C>G (p.Thr117=)
n.724C>G
n.718C>G
12g.52904715G=CA2036710177KRT8c.267C= (p.Thr89=)
c.501C= (p.Thr167=)
n.338C=
c.387C= (p.Thr129=)
n.330C=
c.351C= (p.Thr117=)
n.724C=
n.718C=
12g.52904715G>TCA480077790KRT8c.267C>A (p.Thr89=)
c.501C>A (p.Thr167=)
n.338C>A
c.387C>A (p.Thr129=)
n.330C>A
c.351C>A (p.Thr117=)
n.724C>A
n.718C>A
12g.52904716G>ACA384997023KRT8c.266C>T (p.Thr89Ile)
c.500C>T (p.Thr167Ile)
n.337C>T
c.386C>T (p.Thr129Ile)
n.329C>T
c.350C>T (p.Thr117Ile)
n.723C>T
n.717C>T
12g.52904716G>CCA384997024KRT8c.266C>G (p.Thr89Ser)
c.500C>G (p.Thr167Ser)
n.337C>G
c.386C>G (p.Thr129Ser)
n.329C>G
c.350C>G (p.Thr117Ser)
n.723C>G
n.717C>G
12g.52904716G>TCA384997025KRT8c.266C>A (p.Thr89Asn)
c.500C>A (p.Thr167Asn)
n.337C>A
c.386C>A (p.Thr129Asn)
n.329C>A
c.350C>A (p.Thr117Asn)
n.723C>A
n.717C>A
 gnomAD v4
12g.52904717T>ACA384997026KRT8c.265A>T (p.Thr89Ser)
c.499A>T (p.Thr167Ser)
n.336A>T
c.385A>T (p.Thr129Ser)
n.328A>T
c.349A>T (p.Thr117Ser)
n.722A>T
n.716A>T
12g.52904717T>CCA384997027KRT8c.265A>G (p.Thr89Ala)
c.499A>G (p.Thr167Ala)
n.336A>G
c.385A>G (p.Thr129Ala)
n.328A>G
c.349A>G (p.Thr117Ala)
n.722A>G
n.716A>G
12g.52904717T>GCA384997028KRT8c.265A>C (p.Thr89Pro)
c.499A>C (p.Thr167Pro)
n.336A>C
c.385A>C (p.Thr129Pro)
n.328A>C
c.349A>C (p.Thr117Pro)
n.722A>C
n.716A>C
12g.52904718G>ACA237304366KRT8c.264C>T (p.Arg88=)
c.498C>T (p.Arg166=)
n.335C>T
c.384C>T (p.Arg128=)
n.327C>T
c.348C>T (p.Arg116=)
n.721C>T
n.715C>T
 dbSNP
12g.52904718G>CCA480077794KRT8c.264C>G (p.Arg88=)
c.498C>G (p.Arg166=)
n.335C>G
c.384C>G (p.Arg128=)
n.327C>G
c.348C>G (p.Arg116=)
n.721C>G
n.715C>G
12g.52904718G=CA2036710181KRT8c.264C= (p.Arg88=)
c.498C= (p.Arg166=)
n.335C=
c.384C= (p.Arg128=)
n.327C=
c.348C= (p.Arg116=)
n.721C=
n.715C=
12g.52904718G>TCA480077796KRT8c.264C>A (p.Arg88=)
c.498C>A (p.Arg166=)
n.335C>A
c.384C>A (p.Arg128=)
n.327C>A
c.348C>A (p.Arg116=)
n.721C>A
n.715C>A
12g.52904719C>ACA384997029KRT8c.263G>T (p.Arg88Leu)
c.497G>T (p.Arg166Leu)
n.334G>T
c.383G>T (p.Arg128Leu)
n.326G>T
c.347G>T (p.Arg116Leu)
n.720G>T
n.714G>T
 gnomAD v4
12g.52904719C>GCA384997030KRT8c.263G>C (p.Arg88Pro)
c.497G>C (p.Arg166Pro)
n.334G>C
c.383G>C (p.Arg128Pro)
n.326G>C
c.347G>C (p.Arg116Pro)
n.720G>C
n.714G>C
12g.52904719C>TCA384997031KRT8c.263G>A (p.Arg88His)
c.497G>A (p.Arg166His)
n.334G>A
c.383G>A (p.Arg128His)
n.326G>A
c.347G>A (p.Arg116His)
n.720G>A
n.714G>A
12g.52904720G>ACA6590586KRT8c.262C>T (p.Arg88Cys)
c.496C>T (p.Arg166Cys)
n.333C>T
c.382C>T (p.Arg128Cys)
n.325C>T
c.346C>T (p.Arg116Cys)
n.719C>T
n.713C>T
 dbSNP ExAC gnomAD v2 COSMIC
12g.52904720G>CCA384997032KRT8c.262C>G (p.Arg88Gly)
c.496C>G (p.Arg166Gly)
n.333C>G
c.382C>G (p.Arg128Gly)
n.325C>G
c.346C>G (p.Arg116Gly)
n.719C>G
n.713C>G
12g.52904720G=CA2036710186KRT8c.262C= (p.Arg88=)
c.496C= (p.Arg166=)
n.333C=
c.382C= (p.Arg128=)
n.325C=
c.346C= (p.Arg116=)
n.719C=
n.713C=
12g.52904720G>TCA384997033KRT8c.262C>A (p.Arg88Ser)
c.496C>A (p.Arg166Ser)
n.333C>A
c.382C>A (p.Arg128Ser)
n.325C>A
c.346C>A (p.Arg116Ser)
n.719C>A
n.713C>A
 dbSNP
12g.52904721C>ACA480077803KRT8c.261G>T (p.Val87=)
c.495G>T (p.Val165=)
n.332G>T
c.381G>T (p.Val127=)
n.324G>T
c.345G>T (p.Val115=)
n.718G>T
n.712G>T
12g.52904721C>GCA480077805KRT8c.261G>C (p.Val87=)
c.495G>C (p.Val165=)
n.332G>C
c.381G>C (p.Val127=)
n.324G>C
c.345G>C (p.Val115=)
n.718G>C
n.712G>C
12g.52904721C>TCA480077807KRT8c.261G>A (p.Val87=)
c.495G>A (p.Val165=)
n.332G>A
c.381G>A (p.Val127=)
n.324G>A
c.345G>A (p.Val115=)
n.718G>A
n.712G>A
12g.52904722A>CCA384997034KRT8c.260T>G (p.Val87Gly)
c.494T>G (p.Val165Gly)
n.331T>G
c.380T>G (p.Val127Gly)
n.323T>G
c.344T>G (p.Val115Gly)
n.717T>G
n.711T>G
12g.52904722A>GCA384997036KRT8c.260T>C (p.Val87Ala)
c.494T>C (p.Val165Ala)
n.331T>C
c.380T>C (p.Val127Ala)
n.323T>C
c.344T>C (p.Val115Ala)
n.717T>C
n.711T>C
12g.52904722A>TCA384997035KRT8c.260T>A (p.Val87Glu)
c.494T>A (p.Val165Glu)
n.331T>A
c.380T>A (p.Val127Glu)
n.323T>A
c.344T>A (p.Val115Glu)
n.717T>A
n.711T>A
12g.52904723C>ACA384997037KRT8c.259G>T (p.Val87Leu)
c.493G>T (p.Val165Leu)
n.330G>T
c.379G>T (p.Val127Leu)
n.322G>T
c.343G>T (p.Val115Leu)
n.716G>T
n.710G>T
 gnomAD v4
12g.52904723C>GCA384997038KRT8c.259G>C (p.Val87Leu)
c.493G>C (p.Val165Leu)
n.330G>C
c.379G>C (p.Val127Leu)
n.322G>C
c.343G>C (p.Val115Leu)
n.716G>C
n.710G>C
12g.52904723C>TCA384997039KRT8c.259G>A (p.Val87Met)
c.493G>A (p.Val165Met)
n.330G>A
c.379G>A (p.Val127Met)
n.322G>A
c.343G>A (p.Val115Met)
n.716G>A
n.710G>A
12g.52904724G>ACA480077811KRT8c.258C>T (p.Ala86=)
c.492C>T (p.Ala164=)
n.329C>T
c.378C>T (p.Ala126=)
n.321C>T
c.342C>T (p.Ala114=)
n.715C>T
n.709C>T
 dbSNP gnomAD v3 gnomAD v4
12g.52904724G>CCA480077812KRT8c.258C>G (p.Ala86=)
c.492C>G (p.Ala164=)
n.329C>G
c.378C>G (p.Ala126=)
n.321C>G
c.342C>G (p.Ala114=)
n.715C>G
n.709C>G
12g.52904724G=CA2036710189KRT8c.258C= (p.Ala86=)
c.492C= (p.Ala164=)
n.329C=
c.378C= (p.Ala126=)
n.321C=
c.342C= (p.Ala114=)
n.715C=
n.709C=
12g.52904724G>TCA480077814KRT8c.258C>A (p.Ala86=)
c.492C>A (p.Ala164=)
n.329C>A
c.378C>A (p.Ala126=)
n.321C>A
c.342C>A (p.Ala114=)
n.715C>A
n.709C>A
12g.52904725G>ACA384997040KRT8c.257C>T (p.Ala86Val)
c.491C>T (p.Ala164Val)
n.328C>T
c.377C>T (p.Ala126Val)
n.320C>T
c.341C>T (p.Ala114Val)
n.714C>T
n.708C>T
 dbSNP gnomAD v3 gnomAD v4
12g.52904725G>CCA384997041KRT8c.257C>G (p.Ala86Gly)
c.491C>G (p.Ala164Gly)
n.328C>G
c.377C>G (p.Ala126Gly)
n.320C>G
c.341C>G (p.Ala114Gly)
n.714C>G
n.708C>G
12g.52904725G=CA2036710192KRT8c.257C= (p.Ala86=)
c.491C= (p.Ala164=)
n.328C=
c.377C= (p.Ala126=)
n.320C=
c.341C= (p.Ala114=)
n.714C=
n.708C=
12g.52904725G>TCA384997042KRT8c.257C>A (p.Ala86Asp)
c.491C>A (p.Ala164Asp)
n.328C>A
c.377C>A (p.Ala126Asp)
n.320C>A
c.341C>A (p.Ala114Asp)
n.714C>A
n.708C>A
12g.52904726C>ACA384997043KRT8c.256G>T (p.Ala86Ser)
c.490G>T (p.Ala164Ser)
n.327G>T
c.376G>T (p.Ala126Ser)
n.319G>T
c.340G>T (p.Ala114Ser)
n.713G>T
n.707G>T
12g.52904726C>GCA384997044KRT8c.256G>C (p.Ala86Pro)
c.490G>C (p.Ala164Pro)
n.327G>C
c.376G>C (p.Ala126Pro)
n.319G>C
c.340G>C (p.Ala114Pro)
n.713G>C
n.707G>C
12g.52904726C>TCA384997045KRT8c.256G>A (p.Ala86Thr)
c.490G>A (p.Ala164Thr)
n.327G>A
c.376G>A (p.Ala126Thr)
n.319G>A
c.340G>A (p.Ala114Thr)
n.713G>A
n.707G>A
12g.52904727C>ACA384997046KRT8c.255G>T (p.Gln85His)
c.489G>T (p.Gln163His)
n.326G>T
c.375G>T (p.Gln125His)
n.318G>T
c.339G>T (p.Gln113His)
n.712G>T
n.706G>T
12g.52904727C>GCA384997047KRT8c.255G>C (p.Gln85His)
c.489G>C (p.Gln163His)
n.326G>C
c.375G>C (p.Gln125His)
n.318G>C
c.339G>C (p.Gln113His)
n.712G>C
n.706G>C
12g.52904727C>TCA480077824KRT8c.255G>A (p.Gln85=)
c.489G>A (p.Gln163=)
n.326G>A
c.375G>A (p.Gln125=)
n.318G>A
c.339G>A (p.Gln113=)
n.712G>A
n.706G>A
12g.52904728T>ACA384997050KRT8c.254A>T (p.Gln85Leu)
c.488A>T (p.Gln163Leu)
n.325A>T
c.374A>T (p.Gln125Leu)
n.317A>T
c.338A>T (p.Gln113Leu)
n.711A>T
n.705A>T
12g.52904728T>CCA384997048KRT8c.254A>G (p.Gln85Arg)
c.488A>G (p.Gln163Arg)
n.325A>G
c.374A>G (p.Gln125Arg)
n.317A>G
c.338A>G (p.Gln113Arg)
n.711A>G
n.705A>G
12g.52904728T>GCA384997049KRT8c.254A>C (p.Gln85Pro)
c.488A>C (p.Gln163Pro)
n.325A>C
c.374A>C (p.Gln125Pro)
n.317A>C
c.338A>C (p.Gln113Pro)
n.711A>C
n.705A>C
12g.52904729G>ACA384997051KRT8c.253C>T (p.Gln85Ter)
c.487C>T (p.Gln163Ter)
n.324C>T
c.373C>T (p.Gln125Ter)
n.316C>T
c.337C>T (p.Gln113Ter)
n.710C>T
n.704C>T
12g.52904729G>CCA6590587KRT8c.253C>G (p.Gln85Glu)
c.487C>G (p.Gln163Glu)
n.324C>G
c.373C>G (p.Gln125Glu)
n.316C>G
c.337C>G (p.Gln113Glu)
n.710C>G
n.704C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52904729G=CA2036710197KRT8c.253C= (p.Gln85=)
c.487C= (p.Gln163=)
n.324C=
c.373C= (p.Gln125=)
n.316C=
c.337C= (p.Gln113=)
n.710C=
n.704C=
12g.52904729G>TCA384997052KRT8c.253C>A (p.Gln85Lys)
c.487C>A (p.Gln163Lys)
n.324C>A
c.373C>A (p.Gln125Lys)
n.316C>A
c.337C>A (p.Gln113Lys)
n.710C>A
n.704C>A
12g.52904730G>ACA480077832KRT8c.252C>T (p.Ile84=)
c.486C>T (p.Ile162=)
n.323C>T
c.372C>T (p.Ile124=)
n.315C>T
c.336C>T (p.Ile112=)
n.709C>T
n.703C>T
 gnomAD v4
12g.52904730G>CCA384997053KRT8c.252C>G (p.Ile84Met)
c.486C>G (p.Ile162Met)
n.323C>G
c.372C>G (p.Ile124Met)
n.315C>G
c.336C>G (p.Ile112Met)
n.709C>G
n.703C>G
12g.52904730G>TCA480077833KRT8c.252C>A (p.Ile84=)
c.486C>A (p.Ile162=)
n.323C>A
c.372C>A (p.Ile124=)
n.315C>A
c.336C>A (p.Ile112=)
n.709C>A
n.703C>A
12g.52904731A=CA2036710202KRT8c.251T= (p.Ile84=)
c.485T= (p.Ile162=)
n.322T=
c.371T= (p.Ile124=)
n.314T=
c.335T= (p.Ile112=)
n.708T=
n.702T=
12g.52904731A>CCA384997054KRT8c.251T>G (p.Ile84Ser)
c.485T>G (p.Ile162Ser)
n.322T>G
c.371T>G (p.Ile124Ser)
n.314T>G
c.335T>G (p.Ile112Ser)
n.708T>G
n.702T>G
12g.52904731A>GCA237304375KRT8c.251T>C (p.Ile84Thr)
c.485T>C (p.Ile162Thr)
n.322T>C
c.371T>C (p.Ile124Thr)
n.314T>C
c.335T>C (p.Ile112Thr)
n.708T>C
n.702T>C
 dbSNP
12g.52904731A>TCA384997055KRT8c.251T>A (p.Ile84Asn)
c.485T>A (p.Ile162Asn)
n.322T>A
c.371T>A (p.Ile124Asn)
n.314T>A
c.335T>A (p.Ile112Asn)
n.708T>A
n.702T>A
12g.52904731_52904732insGGCA2618976239KRT8c.250_251insCC (p.Ile84ThrfsTer24)
c.484_485insCC (p.Ile162ThrfsTer?)
n.321_322insCC
c.370_371insCC (p.Ile124ThrfsTer24)
n.313_314insCC
c.334_335insCC (p.Ile112ThrfsTer24)
n.707_708insCC
n.701_702insCC
 gnomAD v4
12g.52904732T>ACA384997058KRT8c.250A>T (p.Ile84Phe)
c.484A>T (p.Ile162Phe)
n.321A>T
c.370A>T (p.Ile124Phe)
n.313A>T
c.334A>T (p.Ile112Phe)
n.707A>T
n.701A>T
12g.52904732T>CCA384997056KRT8c.250A>G (p.Ile84Val)
c.484A>G (p.Ile162Val)
n.321A>G
c.370A>G (p.Ile124Val)
n.313A>G
c.334A>G (p.Ile112Val)
n.707A>G
n.701A>G
12g.52904732T>GCA384997057KRT8c.250A>C (p.Ile84Leu)
c.484A>C (p.Ile162Leu)
n.321A>C
c.370A>C (p.Ile124Leu)
n.313A>C
c.334A>C (p.Ile112Leu)
n.707A>C
n.701A>C
12g.52904733G>ACA480077839KRT8c.249C>T (p.Asn83=)
c.483C>T (p.Asn161=)
n.320C>T
c.369C>T (p.Asn123=)
n.312C>T
c.333C>T (p.Asn111=)
n.706C>T
n.700C>T
 dbSNP gnomAD v4
12g.52904733G>CCA384997059KRT8c.249C>G (p.Asn83Lys)
c.483C>G (p.Asn161Lys)
n.320C>G
c.369C>G (p.Asn123Lys)
n.312C>G
c.333C>G (p.Asn111Lys)
n.706C>G
n.700C>G
12g.52904733G=CA2036710204KRT8c.249C= (p.Asn83=)
c.483C= (p.Asn161=)
n.320C=
c.369C= (p.Asn123=)
n.312C=
c.333C= (p.Asn111=)
n.706C=
n.700C=
12g.52904733G>TCA384997060KRT8c.249C>A (p.Asn83Lys)
c.483C>A (p.Asn161Lys)
n.320C>A
c.369C>A (p.Asn123Lys)
n.312C>A
c.333C>A (p.Asn111Lys)
n.706C>A
n.700C>A
 gnomAD v4
12g.52904734T>ACA384997061KRT8c.248A>T (p.Asn83Ile)
c.482A>T (p.Asn161Ile)
n.319A>T
c.368A>T (p.Asn123Ile)
n.311A>T
c.332A>T (p.Asn111Ile)
n.705A>T
n.699A>T
12g.52904734T>CCA384997062KRT8c.248A>G (p.Asn83Ser)
c.482A>G (p.Asn161Ser)
n.319A>G
c.368A>G (p.Asn123Ser)
n.311A>G
c.332A>G (p.Asn111Ser)
n.705A>G
n.699A>G
12g.52904734T>GCA384997063KRT8c.248A>C (p.Asn83Thr)
c.482A>C (p.Asn161Thr)
n.319A>C
c.368A>C (p.Asn123Thr)
n.311A>C
c.332A>C (p.Asn111Thr)
n.705A>C
n.699A>C
12g.52904735T>ACA384997064KRT8c.247A>T (p.Asn83Tyr)
c.481A>T (p.Asn161Tyr)
n.318A>T
c.367A>T (p.Asn123Tyr)
n.310A>T
c.331A>T (p.Asn111Tyr)
n.704A>T
n.698A>T
12g.52904735T>CCA384997066KRT8c.247A>G (p.Asn83Asp)
c.481A>G (p.Asn161Asp)
n.318A>G
c.367A>G (p.Asn123Asp)
n.310A>G
c.331A>G (p.Asn111Asp)
n.704A>G
n.698A>G
12g.52904735T>GCA384997065KRT8c.247A>C (p.Asn83His)
c.481A>C (p.Asn161His)
n.318A>C
c.367A>C (p.Asn123His)
n.310A>C
c.331A>C (p.Asn111His)
n.704A>C
n.698A>C
12g.52904736G>ACA480077847KRT8c.246C>T (p.Pro82=)
c.480C>T (p.Pro160=)
n.317C>T
c.366C>T (p.Pro122=)
n.309C>T
c.330C>T (p.Pro110=)
n.703C>T
n.697C>T
 gnomAD v4
12g.52904736G>CCA480077848KRT8c.246C>G (p.Pro82=)
c.480C>G (p.Pro160=)
n.317C>G
c.366C>G (p.Pro122=)
n.309C>G
c.330C>G (p.Pro110=)
n.703C>G
n.697C>G
12g.52904736G>TCA480077849KRT8c.246C>A (p.Pro82=)
c.480C>A (p.Pro160=)
n.317C>A
c.366C>A (p.Pro122=)
n.309C>A
c.330C>A (p.Pro110=)
n.703C>A
n.697C>A
12g.52904737G>ACA384997067KRT8c.245C>T (p.Pro82Leu)
c.479C>T (p.Pro160Leu)
n.316C>T
c.365C>T (p.Pro122Leu)
n.308C>T
c.329C>T (p.Pro110Leu)
n.702C>T
n.696C>T
12g.52904737G>CCA384997068KRT8c.245C>G (p.Pro82Arg)
c.479C>G (p.Pro160Arg)
n.316C>G
c.365C>G (p.Pro122Arg)
n.308C>G
c.329C>G (p.Pro110Arg)
n.702C>G
n.696C>G
12g.52904737G>TCA384997069KRT8c.245C>A (p.Pro82His)
c.479C>A (p.Pro160His)
n.316C>A
c.365C>A (p.Pro122His)
n.308C>A
c.329C>A (p.Pro110His)
n.702C>A
n.696C>A
12g.52904738G>ACA384997070KRT8c.244C>T (p.Pro82Ser)
c.478C>T (p.Pro160Ser)
n.315C>T
c.364C>T (p.Pro122Ser)
n.307C>T
c.328C>T (p.Pro110Ser)
n.701C>T
n.695C>T
 dbSNP gnomAD v3 gnomAD v4
12g.52904738G>CCA384997071KRT8c.244C>G (p.Pro82Ala)
c.478C>G (p.Pro160Ala)
n.315C>G
c.364C>G (p.Pro122Ala)
n.307C>G
c.328C>G (p.Pro110Ala)
n.701C>G
n.695C>G
12g.52904738G=CA2036710207KRT8c.244C= (p.Pro82=)
c.478C= (p.Pro160=)
n.315C=
c.364C= (p.Pro122=)
n.307C=
c.328C= (p.Pro110=)
n.701C=
n.695C=
12g.52904738G>TCA384997072KRT8c.244C>A (p.Pro82Thr)
c.478C>A (p.Pro160Thr)
n.315C>A
c.364C>A (p.Pro122Thr)
n.307C>A
c.328C>A (p.Pro110Thr)
n.701C>A
n.695C>A
12g.52904739G>ACA237304380KRT8c.243C>T (p.Asp81=)
c.477C>T (p.Asp159=)
n.314C>T
c.363C>T (p.Asp121=)
n.306C>T
c.327C>T (p.Asp109=)
n.700C>T
n.694C>T
 dbSNP gnomAD v3 gnomAD v4
12g.52904739G>CCA384997073KRT8c.243C>G (p.Asp81Glu)
c.477C>G (p.Asp159Glu)
n.314C>G
c.363C>G (p.Asp121Glu)
n.306C>G
c.327C>G (p.Asp109Glu)
n.700C>G
n.694C>G
12g.52904739G=CA2036710210KRT8c.243C= (p.Asp81=)
c.477C= (p.Asp159=)
n.314C=
c.363C= (p.Asp121=)
n.306C=
c.327C= (p.Asp109=)
n.700C=
n.694C=
12g.52904739G>TCA384997074KRT8c.243C>A (p.Asp81Glu)
c.477C>A (p.Asp159Glu)
n.314C>A
c.363C>A (p.Asp121Glu)
n.306C>A
c.327C>A (p.Asp109Glu)
n.700C>A
n.694C>A
 gnomAD v4
12g.52904740T>ACA384997075KRT8c.242A>T (p.Asp81Val)
c.476A>T (p.Asp159Val)
n.313A>T
c.362A>T (p.Asp121Val)
n.305A>T
c.326A>T (p.Asp109Val)
n.699A>T
n.693A>T
12g.52904740T>CCA384997076KRT8c.242A>G (p.Asp81Gly)
c.476A>G (p.Asp159Gly)
n.313A>G
c.362A>G (p.Asp121Gly)
n.305A>G
c.326A>G (p.Asp109Gly)
n.699A>G
n.693A>G
12g.52904740T>GCA384997077KRT8c.242A>C (p.Asp81Ala)
c.476A>C (p.Asp159Ala)
n.313A>C
c.362A>C (p.Asp121Ala)
n.305A>C
c.326A>C (p.Asp109Ala)
n.699A>C
n.693A>C
12g.52904741C>ACA384997078KRT8c.241G>T (p.Asp81Tyr)
c.475G>T (p.Asp159Tyr)
n.312G>T
c.361G>T (p.Asp121Tyr)
n.304G>T
c.325G>T (p.Asp109Tyr)
n.698G>T
n.692G>T
12g.52904741C=CA2036710212KRT8c.241G= (p.Asp81=)
c.475G= (p.Asp159=)
n.312G=
c.361G= (p.Asp121=)
n.304G=
c.325G= (p.Asp109=)
n.698G=
n.692G=
12g.52904741C>GCA384997080KRT8c.241G>C (p.Asp81His)
c.475G>C (p.Asp159His)
n.312G>C
c.361G>C (p.Asp121His)
n.304G>C
c.325G>C (p.Asp109His)
n.698G>C
n.692G>C
12g.52904741C>TCA384997079KRT8c.241G>A (p.Asp81Asn)
c.475G>A (p.Asp159Asn)
n.312G>A
c.361G>A (p.Asp121Asn)
n.304G>A
c.325G>A (p.Asp109Asn)
n.698G>A
n.692G>A
 dbSNP gnomAD v2 gnomAD v4
12g.52904742C>ACA480077857KRT8c.240G>T (p.Val80=)
c.474G>T (p.Val158=)
n.311G>T
c.360G>T (p.Val120=)
n.303G>T
c.324G>T (p.Val108=)
n.697G>T
n.691G>T
12g.52904742C>GCA480077860KRT8c.240G>C (p.Val80=)
c.474G>C (p.Val158=)
n.311G>C
c.360G>C (p.Val120=)
n.303G>C
c.324G>C (p.Val108=)
n.697G>C
n.691G>C
12g.52904742C>TCA480077862KRT8c.240G>A (p.Val80=)
c.474G>A (p.Val158=)
n.311G>A
c.360G>A (p.Val120=)
n.303G>A
c.324G>A (p.Val108=)
n.697G>A
n.691G>A
 gnomAD v4
12g.52904743A>CCA384997081KRT8c.239T>G (p.Val80Gly)
c.473T>G (p.Val158Gly)
n.310T>G
c.359T>G (p.Val120Gly)
n.302T>G
c.323T>G (p.Val108Gly)
n.696T>G
n.690T>G
12g.52904743A>GCA384997082KRT8c.239T>C (p.Val80Ala)
c.473T>C (p.Val158Ala)
n.310T>C
c.359T>C (p.Val120Ala)
n.302T>C
c.323T>C (p.Val108Ala)
n.696T>C
n.690T>C
12g.52904743A>TCA384997083KRT8c.239T>A (p.Val80Glu)
c.473T>A (p.Val158Glu)
n.310T>A
c.359T>A (p.Val120Glu)
n.302T>A
c.323T>A (p.Val108Glu)
n.696T>A
n.690T>A
12g.52904744C>ACA384997084KRT8c.238G>T (p.Val80Leu)
c.472G>T (p.Val158Leu)
n.309G>T
c.358G>T (p.Val120Leu)
n.301G>T
c.322G>T (p.Val108Leu)
n.695G>T
n.689G>T
12g.52904744C>GCA384997085KRT8c.238G>C (p.Val80Leu)
c.472G>C (p.Val158Leu)
n.309G>C
c.358G>C (p.Val120Leu)
n.301G>C
c.322G>C (p.Val108Leu)
n.695G>C
n.689G>C
12g.52904744C>TCA384997086KRT8c.238G>A (p.Val80Met)
c.472G>A (p.Val158Met)
n.309G>A
c.358G>A (p.Val120Met)
n.301G>A
c.322G>A (p.Val108Met)
n.695G>A
n.689G>A
12g.52904745C>ACA384997087KRT8c.237G>T (p.Glu79Asp)
c.471G>T (p.Glu157Asp)
n.308G>T
c.357G>T (p.Glu119Asp)
n.300G>T
c.321G>T (p.Glu107Asp)
n.694G>T
n.688G>T
12g.52904745C=CA2036710217KRT8c.237G= (p.Glu79=)
c.471G= (p.Glu157=)
n.308G=
c.357G= (p.Glu119=)
n.300G=
c.321G= (p.Glu107=)
n.694G=
n.688G=
12g.52904745C>GCA384997088KRT8c.237G>C (p.Glu79Asp)
c.471G>C (p.Glu157Asp)
n.308G>C
c.357G>C (p.Glu119Asp)
n.300G>C
c.321G>C (p.Glu107Asp)
n.694G>C
n.688G>C
12g.52904745C>TCA480077869KRT8c.237G>A (p.Glu79=)
c.471G>A (p.Glu157=)
n.308G>A
c.357G>A (p.Glu119=)
n.300G>A
c.321G>A (p.Glu107=)
n.694G>A
n.688G>A
 dbSNP
12g.52904746T>ACA384997089KRT8c.236A>T (p.Glu79Val)
c.470A>T (p.Glu157Val)
n.307A>T
c.356A>T (p.Glu119Val)
n.299A>T
c.320A>T (p.Glu107Val)
n.693A>T
n.687A>T
12g.52904746T>CCA384997090KRT8c.236A>G (p.Glu79Gly)
c.470A>G (p.Glu157Gly)
n.307A>G
c.356A>G (p.Glu119Gly)
n.299A>G
c.320A>G (p.Glu107Gly)
n.693A>G
n.687A>G
 gnomAD v4
12g.52904746T>GCA384997091KRT8c.236A>C (p.Glu79Ala)
c.470A>C (p.Glu157Ala)
n.307A>C
c.356A>C (p.Glu119Ala)
n.299A>C
c.320A>C (p.Glu107Ala)
n.693A>C
n.687A>C
 gnomAD v4
12g.52904747C>ACA384997092KRT8c.235G>T (p.Glu79Ter)
c.469G>T (p.Glu157Ter)
n.306G>T
c.355G>T (p.Glu119Ter)
n.298G>T
c.319G>T (p.Glu107Ter)
n.692G>T
n.686G>T
12g.52904747C=CA2036710222KRT8c.235G= (p.Glu79=)
c.469G= (p.Glu157=)
n.306G=
c.355G= (p.Glu119=)
n.298G=
c.319G= (p.Glu107=)
n.692G=
n.686G=
12g.52904747C>GCA384997093KRT8c.235G>C (p.Glu79Gln)
c.469G>C (p.Glu157Gln)
n.306G>C
c.355G>C (p.Glu119Gln)
n.298G>C
c.319G>C (p.Glu107Gln)
n.692G>C
n.686G>C
12g.52904747C>TCA384997094KRT8c.235G>A (p.Glu79Lys)
c.469G>A (p.Glu157Lys)
n.306G>A
c.355G>A (p.Glu119Lys)
n.298G>A
c.319G>A (p.Glu107Lys)
n.692G>A
n.686G>A
 dbSNP
12g.52904748C>ACA480077878KRT8c.234G>T (p.Leu78=)
c.468G>T (p.Leu156=)
n.305G>T
c.354G>T (p.Leu118=)
n.297G>T
c.318G>T (p.Leu106=)
n.691G>T
n.685G>T
12g.52904748C=CA2036710226KRT8c.234G= (p.Leu78=)
c.468G= (p.Leu156=)
n.305G=
c.354G= (p.Leu118=)
n.297G=
c.318G= (p.Leu106=)
n.691G=
n.685G=
12g.52904748C>GCA6590588KRT8c.234G>C (p.Leu78=)
c.468G>C (p.Leu156=)
n.305G>C
c.354G>C (p.Leu118=)
n.297G>C
c.318G>C (p.Leu106=)
n.691G>C
n.685G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52904748C>TCA480077881KRT8c.234G>A (p.Leu78=)
c.468G>A (p.Leu156=)
n.305G>A
c.354G>A (p.Leu118=)
n.297G>A
c.318G>A (p.Leu106=)
n.691G>A
n.685G>A
12g.52904749A=CA2036710228KRT8c.233T= (p.Leu78=)
c.467T= (p.Leu156=)
n.304T=
c.353T= (p.Leu118=)
n.296T=
c.317T= (p.Leu106=)
n.690T=
n.684T=
12g.52904749A>CCA384997095KRT8c.233T>G (p.Leu78Arg)
c.467T>G (p.Leu156Arg)
n.304T>G
c.353T>G (p.Leu118Arg)
n.296T>G
c.317T>G (p.Leu106Arg)
n.690T>G
n.684T>G
12g.52904749A>GCA384997096KRT8c.233T>C (p.Leu78Pro)
c.467T>C (p.Leu156Pro)
n.304T>C
c.353T>C (p.Leu118Pro)
n.296T>C
c.317T>C (p.Leu106Pro)
n.690T>C
n.684T>C
12g.52904749A>TCA384997097KRT8c.233T>A (p.Leu78Gln)
c.467T>A (p.Leu156Gln)
n.304T>A
c.353T>A (p.Leu118Gln)
n.296T>A
c.317T>A (p.Leu106Gln)
n.690T>A
n.684T>A
 dbSNP gnomAD v3 gnomAD v4
12g.52904750G>ACA480077889KRT8c.232C>T (p.Leu78=)
c.466C>T (p.Leu156=)
n.303C>T
c.352C>T (p.Leu118=)
n.295C>T
c.316C>T (p.Leu106=)
n.689C>T
n.683C>T
 dbSNP
12g.52904750G>CCA384997098KRT8c.232C>G (p.Leu78Val)
c.466C>G (p.Leu156Val)
n.303C>G
c.352C>G (p.Leu118Val)
n.295C>G
c.316C>G (p.Leu106Val)
n.689C>G
n.683C>G
12g.52904750G=CA2036710231KRT8c.232C= (p.Leu78=)
c.466C= (p.Leu156=)
n.303C=
c.352C= (p.Leu118=)
n.295C=
c.316C= (p.Leu106=)
n.689C=
n.683C=
12g.52904750G>TCA384997099KRT8c.232C>A (p.Leu78Met)
c.466C>A (p.Leu156Met)
n.303C>A
c.352C>A (p.Leu118Met)
n.295C>A
c.316C>A (p.Leu106Met)
n.689C>A
n.683C>A
12g.52904751G>ACA480077893KRT8c.231C>T (p.Val77=)
c.465C>T (p.Val155=)
n.302C>T
c.351C>T (p.Val117=)
n.294C>T
c.315C>T (p.Val105=)
n.688C>T
n.682C>T
 dbSNP gnomAD v2
12g.52904751G>CCA480077895KRT8c.231C>G (p.Val77=)
c.465C>G (p.Val155=)
n.302C>G
c.351C>G (p.Val117=)
n.294C>G
c.315C>G (p.Val105=)
n.688C>G
n.682C>G
12g.52904751G=CA2036710235KRT8c.231C= (p.Val77=)
c.465C= (p.Val155=)
n.302C=
c.351C= (p.Val117=)
n.294C=
c.315C= (p.Val105=)
n.688C=
n.682C=
12g.52904751G>TCA480077896KRT8c.231C>A (p.Val77=)
c.465C>A (p.Val155=)
n.302C>A
c.351C>A (p.Val117=)
n.294C>A
c.315C>A (p.Val105=)
n.688C>A
n.682C>A
12g.52904752A>CCA384997100KRT8c.230T>G (p.Val77Gly)
c.464T>G (p.Val155Gly)
n.301T>G
c.350T>G (p.Val117Gly)
n.293T>G
c.314T>G (p.Val105Gly)
n.687T>G
n.681T>G
 COSMIC
12g.52904752A>GCA384997101KRT8c.230T>C (p.Val77Ala)
c.464T>C (p.Val155Ala)
n.301T>C
c.350T>C (p.Val117Ala)
n.293T>C
c.314T>C (p.Val105Ala)
n.687T>C
n.681T>C
12g.52904752A>TCA384997102KRT8c.230T>A (p.Val77Asp)
c.464T>A (p.Val155Asp)
n.301T>A
c.350T>A (p.Val117Asp)
n.293T>A
c.314T>A (p.Val105Asp)
n.687T>A
n.681T>A
12g.52904753C>ACA384997103KRT8c.229G>T (p.Val77Phe)
c.463G>T (p.Val155Phe)
n.300G>T
c.349G>T (p.Val117Phe)
n.292G>T
c.313G>T (p.Val105Phe)
n.686G>T
n.680G>T
12g.52904753C>GCA384997104KRT8c.229G>C (p.Val77Leu)
c.463G>C (p.Val155Leu)
n.300G>C
c.349G>C (p.Val117Leu)
n.292G>C
c.313G>C (p.Val105Leu)
n.686G>C
n.680G>C
12g.52904753C>TCA384997105KRT8c.229G>A (p.Val77Ile)
c.463G>A (p.Val155Ile)
n.300G>A
c.349G>A (p.Val117Ile)
n.292G>A
c.313G>A (p.Val105Ile)
n.686G>A
n.680G>A
12g.52904754A=CA2036710242KRT8c.228T= (p.Leu76=)
c.462T= (p.Leu154=)
n.299T=
c.348T= (p.Leu116=)
n.291T=
c.312T= (p.Leu104=)
n.685T=
n.679T=
12g.52904754A>CCA480077902KRT8c.228T>G (p.Leu76=)
c.462T>G (p.Leu154=)
n.299T>G
c.348T>G (p.Leu116=)
n.291T>G
c.312T>G (p.Leu104=)
n.685T>G
n.679T>G
12g.52904754A>GCA6590589KRT8c.228T>C (p.Leu76=)
c.462T>C (p.Leu154=)
n.299T>C
c.348T>C (p.Leu116=)
n.291T>C
c.312T>C (p.Leu104=)
n.685T>C
n.679T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52904754A>TCA480077903KRT8c.228T>A (p.Leu76=)
c.462T>A (p.Leu154=)
n.299T>A
c.348T>A (p.Leu116=)
n.291T>A
c.312T>A (p.Leu104=)
n.685T>A
n.679T>A
12g.52904755A=CA2036710246KRT8c.227T= (p.Leu76=)
c.461T= (p.Leu154=)
n.298T=
c.347T= (p.Leu116=)
n.290T=
c.311T= (p.Leu104=)
n.684T=
n.678T=
12g.52904755A>CCA384997106KRT8c.227T>G (p.Leu76Arg)
c.461T>G (p.Leu154Arg)
n.298T>G
c.347T>G (p.Leu116Arg)
n.290T>G
c.311T>G (p.Leu104Arg)
n.684T>G
n.678T>G
 dbSNP gnomAD v3 gnomAD v4
12g.52904755A>GCA384997108KRT8c.227T>C (p.Leu76Pro)
c.461T>C (p.Leu154Pro)
n.298T>C
c.347T>C (p.Leu116Pro)
n.290T>C
c.311T>C (p.Leu104Pro)
n.684T>C
n.678T>C
 dbSNP
12g.52904755A>TCA384997107KRT8c.227T>A (p.Leu76His)
c.461T>A (p.Leu154His)
n.298T>A
c.347T>A (p.Leu116His)
n.290T>A
c.311T>A (p.Leu104His)
n.684T>A
n.678T>A
12g.52904755_52904760delinsAGGGGGCA2036710244KRT8c.222_227delinsCCCCCT (p.Ser74=)
c.456_461delinsCCCCCT (p.Ser152=)
n.293_298delinsCCCCCT
c.342_347delinsCCCCCT (p.Ser114=)
n.285_290delinsCCCCCT
c.306_311delinsCCCCCT (p.Ser102=)
n.679_684delinsCCCCCT
n.673_678delinsCCCCCT
12g.52904756G>ACA384997109KRT8c.226C>T (p.Leu76Phe)
c.460C>T (p.Leu154Phe)
n.297C>T
c.346C>T (p.Leu116Phe)
n.289C>T
c.310C>T (p.Leu104Phe)
n.683C>T
n.677C>T
12g.52904756G>CCA384997111KRT8c.226C>G (p.Leu76Val)
c.460C>G (p.Leu154Val)
n.297C>G
c.346C>G (p.Leu116Val)
n.289C>G
c.310C>G (p.Leu104Val)
n.683C>G
n.677C>G
12g.52904756G>TCA384997110KRT8c.226C>A (p.Leu76Ile)
c.460C>A (p.Leu154Ile)
n.297C>A
c.346C>A (p.Leu116Ile)
n.289C>A
c.310C>A (p.Leu104Ile)
n.683C>A
n.677C>A
12g.52904756_52904760delCA919089490KRT8c.222_226del (p.Pro75CysfsTer?)
c.456_460del (p.Pro153CysfsTer?)
n.293_297del
c.342_346del (p.Pro115CysfsTer?)
n.285_289del
c.306_310del (p.Pro103CysfsTer?)
n.679_683del
n.673_677del
 dbSNP gnomAD v4
12g.52904757G>ACA6590590KRT8c.225C>T (p.Pro75=)
c.459C>T (p.Pro153=)
n.296C>T
c.345C>T (p.Pro115=)
n.288C>T
c.309C>T (p.Pro103=)
n.682C>T
n.676C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52904757G>CCA480077912KRT8c.225C>G (p.Pro75=)
c.459C>G (p.Pro153=)
n.296C>G
c.345C>G (p.Pro115=)
n.288C>G
c.309C>G (p.Pro103=)
n.682C>G
n.676C>G
 gnomAD v4
12g.52904757G=CA2036710251KRT8c.225C= (p.Pro75=)
c.459C= (p.Pro153=)
n.296C=
c.345C= (p.Pro115=)
n.288C=
c.309C= (p.Pro103=)
n.682C=
n.676C=
12g.52904757G>TCA480077909KRT8c.225C>A (p.Pro75=)
c.459C>A (p.Pro153=)
n.296C>A
c.345C>A (p.Pro115=)
n.288C>A
c.309C>A (p.Pro103=)
n.682C>A
n.676C>A
12g.52904758G>ACA384997114KRT8c.224C>T (p.Pro75Leu)
c.458C>T (p.Pro153Leu)
n.295C>T
c.344C>T (p.Pro115Leu)
n.287C>T
c.308C>T (p.Pro103Leu)
n.681C>T
n.675C>T
12g.52904758G>CCA384997112KRT8c.224C>G (p.Pro75Arg)
c.458C>G (p.Pro153Arg)
n.295C>G
c.344C>G (p.Pro115Arg)
n.287C>G
c.308C>G (p.Pro103Arg)
n.681C>G
n.675C>G
12g.52904758G>TCA384997113KRT8c.224C>A (p.Pro75His)
c.458C>A (p.Pro153His)
n.295C>A
c.344C>A (p.Pro115His)
n.287C>A
c.308C>A (p.Pro103His)
n.681C>A
n.675C>A
12g.52904759G>ACA384997115KRT8c.223C>T (p.Pro75Ser)
c.457C>T (p.Pro153Ser)
n.294C>T
c.343C>T (p.Pro115Ser)
n.286C>T
c.307C>T (p.Pro103Ser)
n.680C>T
n.674C>T
12g.52904759G>CCA384997116KRT8c.223C>G (p.Pro75Ala)
c.457C>G (p.Pro153Ala)
n.294C>G
c.343C>G (p.Pro115Ala)
n.286C>G
c.307C>G (p.Pro103Ala)
n.680C>G
n.674C>G
12g.52904759G>TCA384997117KRT8c.223C>A (p.Pro75Thr)
c.457C>A (p.Pro153Thr)
n.294C>A
c.343C>A (p.Pro115Thr)
n.286C>A
c.307C>A (p.Pro103Thr)
n.680C>A
n.674C>A
12g.52904760G>ACA480077921KRT8c.222C>T (p.Ser74=)
c.456C>T (p.Ser152=)
n.293C>T
c.342C>T (p.Ser114=)
n.285C>T
c.306C>T (p.Ser102=)
n.679C>T
n.673C>T
12g.52904760G>CCA384997118KRT8c.222C>G (p.Ser74Arg)
c.456C>G (p.Ser152Arg)
n.293C>G
c.342C>G (p.Ser114Arg)
n.285C>G
c.306C>G (p.Ser102Arg)
n.679C>G
n.673C>G
12g.52904760G=CA2036710253KRT8c.222C= (p.Ser74=)
c.456C= (p.Ser152=)
n.293C=
c.342C= (p.Ser114=)
n.285C=
c.306C= (p.Ser102=)
n.679C=
n.673C=
12g.52904760G>TCA384997119KRT8c.222C>A (p.Ser74Arg)
c.456C>A (p.Ser152Arg)
n.293C>A
c.342C>A (p.Ser114Arg)
n.285C>A
c.306C>A (p.Ser102Arg)
n.679C>A
n.673C>A
12g.52904761C>ACA384997120KRT8c.221G>T (p.Ser74Ile)
c.455G>T (p.Ser152Ile)
n.292G>T
c.341G>T (p.Ser114Ile)
n.284G>T
c.305G>T (p.Ser102Ile)
n.678G>T
n.672G>T
12g.52904761C=CA2036710255KRT8c.221G= (p.Ser74=)
c.455G= (p.Ser152=)
n.292G=
c.341G= (p.Ser114=)
n.284G=
c.305G= (p.Ser102=)
n.678G=
n.672G=
12g.52904761C>GCA384997121KRT8c.221G>C (p.Ser74Thr)
c.455G>C (p.Ser152Thr)
n.292G>C
c.341G>C (p.Ser114Thr)
n.284G>C
c.305G>C (p.Ser102Thr)
n.678G>C
n.672G>C
12g.52904761C>TCA384997122KRT8c.221G>A (p.Ser74Asn)
c.455G>A (p.Ser152Asn)
n.292G>A
c.341G>A (p.Ser114Asn)
n.284G>A
c.305G>A (p.Ser102Asn)
n.678G>A
n.672G>A
 dbSNP
12g.52904761_52904762insCCCA919089493KRT8c.221_222insGG (p.Ser74ArgfsTer?)
c.455_456insGG (p.Ser152ArgfsTer?)
n.292_293insGG
c.341_342insGG (p.Ser114ArgfsTer?)
n.284_285insGG
c.305_306insGG (p.Ser102ArgfsTer?)
n.678_679insGG
n.672_673insGG
 dbSNP
12g.52904762T>ACA384997123KRT8c.220A>T (p.Ser74Cys)
c.454A>T (p.Ser152Cys)
n.291A>T
c.340A>T (p.Ser114Cys)
n.283A>T
c.304A>T (p.Ser102Cys)
n.677A>T
n.671A>T
12g.52904762T>CCA384997124KRT8c.220A>G (p.Ser74Gly)
c.454A>G (p.Ser152Gly)
n.291A>G
c.340A>G (p.Ser114Gly)
n.283A>G
c.304A>G (p.Ser102Gly)
n.677A>G
n.671A>G
12g.52904762T>GCA384997125KRT8c.220A>C (p.Ser74Arg)
c.454A>C (p.Ser152Arg)
n.291A>C
c.340A>C (p.Ser114Arg)
n.283A>C
c.304A>C (p.Ser102Arg)
n.677A>C
n.671A>C
12g.52904762_52904768delinsTCAGCAGCA2036710259KRT8c.214_220delinsCTGCTGA (p.Leu72=)
c.448_454delinsCTGCTGA (p.Leu150=)
n.285_291delinsCTGCTGA
c.334_340delinsCTGCTGA (p.Leu112=)
n.277_283delinsCTGCTGA
c.298_304delinsCTGCTGA (p.Leu100=)
n.671_677delinsCTGCTGA
n.665_671delinsCTGCTGA
12g.52904763C>ACA480077933KRT8c.219G>T (p.Leu73=)
c.453G>T (p.Leu151=)
n.290G>T
c.339G>T (p.Leu113=)
n.282G>T
c.303G>T (p.Leu101=)
n.676G>T
n.670G>T
12g.52904763C=CA2036710263KRT8c.219G= (p.Leu73=)
c.453G= (p.Leu151=)
n.290G=
c.339G= (p.Leu113=)
n.282G=
c.303G= (p.Leu101=)
n.676G=
n.670G=
12g.52904763C>GCA480077934KRT8c.219G>C (p.Leu73=)
c.453G>C (p.Leu151=)
n.290G>C
c.339G>C (p.Leu113=)
n.282G>C
c.303G>C (p.Leu101=)
n.676G>C
n.670G>C
12g.52904763C>TCA237304419KRT8c.219G>A (p.Leu73=)
c.453G>A (p.Leu151=)
n.290G>A
c.339G>A (p.Leu113=)
n.282G>A
c.303G>A (p.Leu101=)
n.676G>A
n.670G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.52904763_52904768delCA919089495KRT8c.214_219del (p.Leu72_Leu73del)
c.448_453del (p.Leu150_Leu151del)
n.285_290del
c.334_339del (p.Leu112_Leu113del)
n.277_282del
c.298_303del (p.Leu100_Leu101del)
n.671_676del
n.665_670del
 dbSNP gnomAD v4
12g.52904764A>CCA384997126KRT8c.218T>G (p.Leu73Arg)
c.452T>G (p.Leu151Arg)
n.289T>G
c.338T>G (p.Leu113Arg)
n.281T>G
c.302T>G (p.Leu101Arg)
n.675T>G
n.669T>G
 ClinVar
12g.52904764A>GCA384997128KRT8c.218T>C (p.Leu73Pro)
c.452T>C (p.Leu151Pro)
n.289T>C
c.338T>C (p.Leu113Pro)
n.281T>C
c.302T>C (p.Leu101Pro)
n.675T>C
n.669T>C
12g.52904764A>TCA384997127KRT8c.218T>A (p.Leu73Gln)
c.452T>A (p.Leu151Gln)
n.289T>A
c.338T>A (p.Leu113Gln)
n.281T>A
c.302T>A (p.Leu101Gln)
n.675T>A
n.669T>A
12g.52904765G>ACA480077936KRT8c.217C>T (p.Leu73=)
c.451C>T (p.Leu151=)
n.288C>T
c.337C>T (p.Leu113=)
n.280C>T
c.301C>T (p.Leu101=)
n.674C>T
n.668C>T
 dbSNP gnomAD v2 gnomAD v4
12g.52904765G>CCA384997129KRT8c.217C>G (p.Leu73Val)
c.451C>G (p.Leu151Val)
n.288C>G
c.337C>G (p.Leu113Val)
n.280C>G
c.301C>G (p.Leu101Val)
n.674C>G
n.668C>G
12g.52904765G=CA2036710266KRT8c.217C= (p.Leu73=)
c.451C= (p.Leu151=)
n.288C=
c.337C= (p.Leu113=)
n.280C=
c.301C= (p.Leu101=)
n.674C=
n.668C=
12g.52904765G>TCA384997130KRT8c.217C>A (p.Leu73Met)
c.451C>A (p.Leu151Met)
n.288C>A
c.337C>A (p.Leu113Met)
n.280C>A
c.301C>A (p.Leu101Met)
n.674C>A
n.668C>A
12g.52904766C>ACA480077939KRT8c.216G>T (p.Leu72=)
c.450G>T (p.Leu150=)
n.287G>T
c.336G>T (p.Leu112=)
n.279G>T
c.300G>T (p.Leu100=)
n.673G>T
n.667G>T
12g.52904766C=CA2036710274KRT8c.216G= (p.Leu72=)
c.450G= (p.Leu150=)
n.287G=
c.336G= (p.Leu112=)
n.279G=
c.300G= (p.Leu100=)
n.673G=
n.667G=
12g.52904766C>GCA480077940KRT8c.216G>C (p.Leu72=)
c.450G>C (p.Leu150=)
n.287G>C
c.336G>C (p.Leu112=)
n.279G>C
c.300G>C (p.Leu100=)
n.673G>C
n.667G>C
12g.52904766C>TCA217266KRT8c.216G>A (p.Leu72=)
c.450G>A (p.Leu150=)
n.287G>A
c.336G>A (p.Leu112=)
n.279G>A
c.300G>A (p.Leu100=)
n.673G>A
n.667G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52904767A>CCA384997131KRT8c.215T>G (p.Leu72Arg)
c.449T>G (p.Leu150Arg)
n.286T>G
c.335T>G (p.Leu112Arg)
n.278T>G
c.299T>G (p.Leu100Arg)
n.672T>G
n.666T>G
 gnomAD v4
12g.52904767A>GCA384997132KRT8c.215T>C (p.Leu72Pro)
c.449T>C (p.Leu150Pro)
n.286T>C
c.335T>C (p.Leu112Pro)
n.278T>C
c.299T>C (p.Leu100Pro)
n.672T>C
n.666T>C
12g.52904767A>TCA384997133KRT8c.215T>A (p.Leu72Gln)
c.449T>A (p.Leu150Gln)
n.286T>A
c.335T>A (p.Leu112Gln)
n.278T>A
c.299T>A (p.Leu100Gln)
n.672T>A
n.666T>A
12g.52904768G>ACA480077941KRT8c.214C>T (p.Leu72=)
c.448C>T (p.Leu150=)
n.285C>T
c.334C>T (p.Leu112=)
n.277C>T
c.298C>T (p.Leu100=)
n.671C>T
n.665C>T
12g.52904768G>CCA384997134KRT8c.214C>G (p.Leu72Val)
c.448C>G (p.Leu150Val)
n.285C>G
c.334C>G (p.Leu112Val)
n.277C>G
c.298C>G (p.Leu100Val)
n.671C>G
n.665C>G
12g.52904768G>TCA384997135KRT8c.214C>A (p.Leu72Met)
c.448C>A (p.Leu150Met)
n.285C>A
c.334C>A (p.Leu112Met)
n.277C>A
c.298C>A (p.Leu100Met)
n.671C>A
n.665C>A
12g.52904769G>ACA480077942KRT8c.213C>T (p.Ser71=)
c.447C>T (p.Ser149=)
n.284C>T
c.333C>T (p.Ser111=)
n.276C>T
c.297C>T (p.Ser99=)
n.670C>T
n.664C>T
12g.52904769G>CCA384997136KRT8c.213C>G (p.Ser71Arg)
c.447C>G (p.Ser149Arg)
n.284C>G
c.333C>G (p.Ser111Arg)
n.276C>G
c.297C>G (p.Ser99Arg)
n.670C>G
n.664C>G
12g.52904769G=CA2036710276KRT8c.213C= (p.Ser71=)
c.447C= (p.Ser149=)
n.284C=
c.333C= (p.Ser111=)
n.276C=
c.297C= (p.Ser99=)
n.670C=
n.664C=
12g.52904769G>TCA237304434KRT8c.213C>A (p.Ser71Arg)
c.447C>A (p.Ser149Arg)
n.284C>A
c.333C>A (p.Ser111Arg)
n.276C>A
c.297C>A (p.Ser99Arg)
n.670C>A
n.664C>A
 dbSNP gnomAD v2 gnomAD v4
12g.52904770C>ACA384997139KRT8c.212G>T (p.Ser71Ile)
c.446G>T (p.Ser149Ile)
n.283G>T
c.332G>T (p.Ser111Ile)
n.275G>T
c.296G>T (p.Ser99Ile)
n.669G>T
n.663G>T
12g.52904770C>GCA384997138KRT8c.212G>C (p.Ser71Thr)
c.446G>C (p.Ser149Thr)
n.283G>C
c.332G>C (p.Ser111Thr)
n.275G>C
c.296G>C (p.Ser99Thr)
n.669G>C
n.663G>C
12g.52904770C>TCA384997137KRT8c.212G>A (p.Ser71Asn)
c.446G>A (p.Ser149Asn)
n.283G>A
c.332G>A (p.Ser111Asn)
n.275G>A
c.296G>A (p.Ser99Asn)
n.669G>A
n.663G>A
12g.52904771T>ACA384997140KRT8c.211A>T (p.Ser71Cys)
c.445A>T (p.Ser149Cys)
n.282A>T
c.331A>T (p.Ser111Cys)
n.274A>T
c.295A>T (p.Ser99Cys)
n.668A>T
n.662A>T
12g.52904771T>CCA384997141KRT8c.211A>G (p.Ser71Gly)
c.445A>G (p.Ser149Gly)
n.282A>G
c.331A>G (p.Ser111Gly)
n.274A>G
c.295A>G (p.Ser99Gly)
n.668A>G
n.662A>G
12g.52904771T>GCA384997142KRT8c.211A>C (p.Ser71Arg)
c.445A>C (p.Ser149Arg)
n.282A>C
c.331A>C (p.Ser111Arg)
n.274A>C
c.295A>C (p.Ser99Arg)
n.668A>C
n.662A>C
12g.52904772C>ACA384997143KRT8c.210G>T (p.Gln70His)
c.444G>T (p.Gln148His)
n.281G>T
c.330G>T (p.Gln110His)
n.273G>T
c.294G>T (p.Gln98His)
n.667G>T
n.661G>T
12g.52904772C>GCA384997144KRT8c.210G>C (p.Gln70His)
c.444G>C (p.Gln148His)
n.281G>C
c.330G>C (p.Gln110His)
n.273G>C
c.294G>C (p.Gln98His)
n.667G>C
n.661G>C
12g.52904772C>TCA480077945KRT8c.210G>A (p.Gln70=)
c.444G>A (p.Gln148=)
n.281G>A
c.330G>A (p.Gln110=)
n.273G>A
c.294G>A (p.Gln98=)
n.667G>A
n.661G>A
12g.52904773T>ACA384997145KRT8c.209A>T (p.Gln70Leu)
c.443A>T (p.Gln148Leu)
n.280A>T
c.329A>T (p.Gln110Leu)
n.272A>T
c.293A>T (p.Gln98Leu)
n.666A>T
n.660A>T
12g.52904773T>CCA384997146KRT8c.209A>G (p.Gln70Arg)
c.443A>G (p.Gln148Arg)
n.280A>G
c.329A>G (p.Gln110Arg)
n.272A>G
c.293A>G (p.Gln98Arg)
n.666A>G
n.660A>G
12g.52904773T>GCA384997147KRT8c.209A>C (p.Gln70Pro)
c.443A>C (p.Gln148Pro)
n.280A>C
c.329A>C (p.Gln110Pro)
n.272A>C
c.293A>C (p.Gln98Pro)
n.666A>C
n.660A>C
12g.52904774G>ACA384997148KRT8c.208C>T (p.Gln70Ter)
c.442C>T (p.Gln148Ter)
n.279C>T
c.328C>T (p.Gln110Ter)
n.271C>T
c.292C>T (p.Gln98Ter)
n.665C>T
n.659C>T
 gnomAD v4
12g.52904774G>CCA384997149KRT8c.208C>G (p.Gln70Glu)
c.442C>G (p.Gln148Glu)
n.279C>G
c.328C>G (p.Gln110Glu)
n.271C>G
c.292C>G (p.Gln98Glu)
n.665C>G
n.659C>G
12g.52904774G>TCA384997150KRT8c.208C>A (p.Gln70Lys)
c.442C>A (p.Gln148Lys)
n.279C>A
c.328C>A (p.Gln110Lys)
n.271C>A
c.292C>A (p.Gln98Lys)
n.665C>A
n.659C>A
12g.52904775G>ACA480077947KRT8c.207C>T (p.Asn69=)
c.441C>T (p.Asn147=)
n.278C>T
c.327C>T (p.Asn109=)
n.270C>T
c.291C>T (p.Asn97=)
n.664C>T
n.658C>T
12g.52904775G>CCA384997151KRT8c.207C>G (p.Asn69Lys)
c.441C>G (p.Asn147Lys)
n.278C>G
c.327C>G (p.Asn109Lys)
n.270C>G
c.291C>G (p.Asn97Lys)
n.664C>G
n.658C>G
12g.52904775G>TCA384997152KRT8c.207C>A (p.Asn69Lys)
c.441C>A (p.Asn147Lys)
n.278C>A
c.327C>A (p.Asn109Lys)
n.270C>A
c.291C>A (p.Asn97Lys)
n.664C>A
n.658C>A
12g.52904776T>ACA237304438KRT8c.206A>T (p.Asn69Ile)
c.440A>T (p.Asn147Ile)
n.277A>T
c.326A>T (p.Asn109Ile)
n.269A>T
c.290A>T (p.Asn97Ile)
n.663A>T
n.657A>T
 dbSNP gnomAD v3 gnomAD v4
12g.52904776T>CCA6590591KRT8c.206A>G (p.Asn69Ser)
c.440A>G (p.Asn147Ser)
n.277A>G
c.326A>G (p.Asn109Ser)
n.269A>G
c.290A>G (p.Asn97Ser)
n.663A>G
n.657A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52904776T>GCA384997153KRT8c.206A>C (p.Asn69Thr)
c.440A>C (p.Asn147Thr)
n.277A>C
c.326A>C (p.Asn109Thr)
n.269A>C
c.290A>C (p.Asn97Thr)
n.663A>C
n.657A>C
12g.52904776T=CA2036710280KRT8c.206A= (p.Asn69=)
c.440A= (p.Asn147=)
n.277A=
c.326A= (p.Asn109=)
n.269A=
c.290A= (p.Asn97=)
n.663A=
n.657A=
12g.52904777T>ACA384997154KRT8c.205A>T (p.Asn69Tyr)
c.439A>T (p.Asn147Tyr)
n.276A>T
c.325A>T (p.Asn109Tyr)
n.268A>T
c.289A>T (p.Asn97Tyr)
n.662A>T
n.656A>T
12g.52904777T>CCA384997155KRT8c.205A>G (p.Asn69Asp)
c.439A>G (p.Asn147Asp)
n.276A>G
c.325A>G (p.Asn109Asp)
n.268A>G
c.289A>G (p.Asn97Asp)
n.662A>G
n.656A>G
12g.52904777T>GCA384997156KRT8c.205A>C (p.Asn69His)
c.439A>C (p.Asn147His)
n.276A>C
c.325A>C (p.Asn109His)
n.268A>C
c.289A>C (p.Asn97His)
n.662A>C
n.656A>C
12g.52904778G>ACA480077955KRT8c.204C>T (p.Val68=)
c.438C>T (p.Val146=)
n.275C>T
c.324C>T (p.Val108=)
n.267C>T
c.288C>T (p.Val96=)
n.661C>T
n.655C>T
12g.52904778G>CCA480077954KRT8c.204C>G (p.Val68=)
c.438C>G (p.Val146=)
n.275C>G
c.324C>G (p.Val108=)
n.267C>G
c.288C>G (p.Val96=)
n.661C>G
n.655C>G
12g.52904778G>TCA480077952KRT8c.204C>A (p.Val68=)
c.438C>A (p.Val146=)
n.275C>A
c.324C>A (p.Val108=)
n.267C>A
c.288C>A (p.Val96=)
n.661C>A
n.655C>A
12g.52904779A>CCA384997157KRT8c.203T>G (p.Val68Gly)
c.437T>G (p.Val146Gly)
n.274T>G
c.323T>G (p.Val108Gly)
n.266T>G
c.287T>G (p.Val96Gly)
n.660T>G
n.654T>G
 gnomAD v4
12g.52904779A>GCA384997158KRT8c.203T>C (p.Val68Ala)
c.437T>C (p.Val146Ala)
n.274T>C
c.323T>C (p.Val108Ala)
n.266T>C
c.287T>C (p.Val96Ala)
n.660T>C
n.654T>C
 gnomAD v4
12g.52904779A>TCA384997159KRT8c.203T>A (p.Val68Asp)
c.437T>A (p.Val146Asp)
n.274T>A
c.323T>A (p.Val108Asp)
n.266T>A
c.287T>A (p.Val96Asp)
n.660T>A
n.654T>A
12g.52904780C>ACA384997160KRT8c.202G>T (p.Val68Phe)
c.436G>T (p.Val146Phe)
n.273G>T
c.322G>T (p.Val108Phe)
n.265G>T
c.286G>T (p.Val96Phe)
n.659G>T
n.653G>T
12g.52904780C>GCA384997161KRT8c.202G>C (p.Val68Leu)
c.436G>C (p.Val146Leu)
n.273G>C
c.322G>C (p.Val108Leu)
n.265G>C
c.286G>C (p.Val96Leu)
n.659G>C
n.653G>C
12g.52904780C>TCA384997162KRT8c.202G>A (p.Val68Ile)
c.436G>A (p.Val146Ile)
n.273G>A
c.322G>A (p.Val108Ile)
n.265G>A
c.286G>A (p.Val96Ile)
n.659G>A
n.653G>A
12g.52904781C>ACA480077959KRT8c.201G>T (p.Thr67=)
c.435G>T (p.Thr145=)
n.272G>T
c.321G>T (p.Thr107=)
n.264G>T
c.285G>T (p.Thr95=)
n.658G>T
n.652G>T
12g.52904781C=CA2036710282KRT8c.201G= (p.Thr67=)
c.435G= (p.Thr145=)
n.272G=
c.321G= (p.Thr107=)
n.264G=
c.285G= (p.Thr95=)
n.658G=
n.652G=
12g.52904781C>GCA480077958KRT8c.201G>C (p.Thr67=)
c.435G>C (p.Thr145=)
n.272G>C
c.321G>C (p.Thr107=)
n.264G>C
c.285G>C (p.Thr95=)
n.658G>C
n.652G>C
12g.52904781C>TCA6590592KRT8c.201G>A (p.Thr67=)
c.435G>A (p.Thr145=)
n.272G>A
c.321G>A (p.Thr107=)
n.264G>A
c.285G>A (p.Thr95=)
n.658G>A
n.652G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52904782G>ACA384997165KRT8c.200C>T (p.Thr67Met)
c.434C>T (p.Thr145Met)
n.271C>T
c.320C>T (p.Thr107Met)
n.263C>T
c.284C>T (p.Thr95Met)
n.657C>T
n.651C>T
 gnomAD v4
12g.52904782G>CCA384997164KRT8c.200C>G (p.Thr67Arg)
c.434C>G (p.Thr145Arg)
n.271C>G
c.320C>G (p.Thr107Arg)
n.263C>G
c.284C>G (p.Thr95Arg)
n.657C>G
n.651C>G
12g.52904782G=CA2036710284KRT8c.200C= (p.Thr67=)
c.434C= (p.Thr145=)
n.271C=
c.320C= (p.Thr107=)
n.263C=
c.284C= (p.Thr95=)
n.657C=
n.651C=
12g.52904782G>TCA384997163KRT8c.200C>A (p.Thr67Lys)
c.434C>A (p.Thr145Lys)
n.271C>A
c.320C>A (p.Thr107Lys)
n.263C>A
c.284C>A (p.Thr95Lys)
n.657C>A
n.651C>A
 dbSNP gnomAD v2 gnomAD v4
12g.52904783T>ACA384997166KRT8c.199A>T (p.Thr67Ser)
c.433A>T (p.Thr145Ser)
n.270A>T
c.319A>T (p.Thr107Ser)
n.262A>T
c.283A>T (p.Thr95Ser)
n.656A>T
n.650A>T
12g.52904783T>CCA384997168KRT8c.199A>G (p.Thr67Ala)
c.433A>G (p.Thr145Ala)
n.270A>G
c.319A>G (p.Thr107Ala)
n.262A>G
c.283A>G (p.Thr95Ala)
n.656A>G
n.650A>G
12g.52904783T>GCA384997167KRT8c.199A>C (p.Thr67Pro)
c.433A>C (p.Thr145Pro)
n.270A>C
c.319A>C (p.Thr107Pro)
n.262A>C
c.283A>C (p.Thr95Pro)
n.656A>C
n.650A>C
12g.52904784A>CCA480077965KRT8c.198T>G (p.Val66=)
c.432T>G (p.Val144=)
n.269T>G
c.318T>G (p.Val106=)
n.261T>G
c.282T>G (p.Val94=)
n.655T>G
n.649T>G
12g.52904784A>GCA480077967KRT8c.198T>C (p.Val66=)
c.432T>C (p.Val144=)
n.269T>C
c.318T>C (p.Val106=)
n.261T>C
c.282T>C (p.Val94=)
n.655T>C
n.649T>C
 COSMIC
12g.52904784A>TCA480077966KRT8c.198T>A (p.Val66=)
c.432T>A (p.Val144=)
n.269T>A
c.318T>A (p.Val106=)
n.261T>A
c.282T>A (p.Val94=)
n.655T>A
n.649T>A
12g.52904785A>CCA384997169KRT8c.197T>G (p.Val66Gly)
c.431T>G (p.Val144Gly)
n.268T>G
c.317T>G (p.Val106Gly)
n.260T>G
c.281T>G (p.Val94Gly)
n.654T>G
n.648T>G
12g.52904785A>GCA384997170KRT8c.197T>C (p.Val66Ala)
c.431T>C (p.Val144Ala)
n.268T>C
c.317T>C (p.Val106Ala)
n.260T>C
c.281T>C (p.Val94Ala)
n.654T>C
n.648T>C
12g.52904785A>TCA384997171KRT8c.197T>A (p.Val66Asp)
c.431T>A (p.Val144Asp)
n.268T>A
c.317T>A (p.Val106Asp)
n.260T>A
c.281T>A (p.Val94Asp)
n.654T>A
n.648T>A
12g.52904786C>ACA384997172KRT8c.196G>T (p.Val66Phe)
c.430G>T (p.Val144Phe)
n.267G>T
c.316G>T (p.Val106Phe)
n.259G>T
c.280G>T (p.Val94Phe)
n.653G>T
n.647G>T
12g.52904786C=CA2036710288KRT8c.196G= (p.Val66=)
c.430G= (p.Val144=)
n.267G=
c.316G= (p.Val106=)
n.259G=
c.280G= (p.Val94=)
n.653G=
n.647G=
12g.52904786C>GCA384997173KRT8c.196G>C (p.Val66Leu)
c.430G>C (p.Val144Leu)
n.267G>C
c.316G>C (p.Val106Leu)
n.259G>C
c.280G>C (p.Val94Leu)
n.653G>C
n.647G>C
12g.52904786C>TCA6590593KRT8c.196G>A (p.Val66Ile)
c.430G>A (p.Val144Ile)
n.267G>A
c.316G>A (p.Val106Ile)
n.259G>A
c.280G>A (p.Val94Ile)
n.653G>A
n.647G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52904787T>ACA480077974KRT8c.195A>T (p.Ala65=)
c.429A>T (p.Ala143=)
n.266A>T
c.315A>T (p.Ala105=)
n.258A>T
c.279A>T (p.Ala93=)
n.652A>T
n.646A>T
12g.52904787T>CCA480077976KRT8c.195A>G (p.Ala65=)
c.429A>G (p.Ala143=)
n.266A>G
c.315A>G (p.Ala105=)
n.258A>G
c.279A>G (p.Ala93=)
n.652A>G
n.646A>G
12g.52904787T>GCA480077977KRT8c.195A>C (p.Ala65=)
c.429A>C (p.Ala143=)
n.266A>C
c.315A>C (p.Ala105=)
n.258A>C
c.279A>C (p.Ala93=)
n.652A>C
n.646A>C
12g.52904788G>ACA6590594KRT8c.194C>T (p.Ala65Val)
c.428C>T (p.Ala143Val)
n.265C>T
c.314C>T (p.Ala105Val)
n.257C>T
c.278C>T (p.Ala93Val)
n.651C>T
n.645C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52904788G>CCA384997174KRT8c.194C>G (p.Ala65Gly)
c.428C>G (p.Ala143Gly)
n.265C>G
c.314C>G (p.Ala105Gly)
n.257C>G
c.278C>G (p.Ala93Gly)
n.651C>G
n.645C>G
12g.52904788G=CA2036710291KRT8c.194C= (p.Ala65=)
c.428C= (p.Ala143=)
n.265C=
c.314C= (p.Ala105=)
n.257C=
c.278C= (p.Ala93=)
n.651C=
n.645C=
12g.52904788G>TCA384997175KRT8c.194C>A (p.Ala65Glu)
c.428C>A (p.Ala143Glu)
n.265C>A
c.314C>A (p.Ala105Glu)
n.257C>A
c.278C>A (p.Ala93Glu)
n.651C>A
n.645C>A
12g.52904789C>ACA384997176KRT8c.193G>T (p.Ala65Ser)
c.427G>T (p.Ala143Ser)
n.264G>T
c.313G>T (p.Ala105Ser)
n.256G>T
c.277G>T (p.Ala93Ser)
n.650G>T
n.644G>T
12g.52904789C=CA2036710293KRT8c.193G= (p.Ala65=)
c.427G= (p.Ala143=)
n.264G=
c.313G= (p.Ala105=)
n.256G=
c.277G= (p.Ala93=)
n.650G=
n.644G=
12g.52904789C>GCA384997177KRT8c.193G>C (p.Ala65Pro)
c.427G>C (p.Ala143Pro)
n.264G>C
c.313G>C (p.Ala105Pro)
n.256G>C
c.277G>C (p.Ala93Pro)
n.650G>C
n.644G>C
 dbSNP
12g.52904789C>TCA6590595KRT8c.193G>A (p.Ala65Thr)
c.427G>A (p.Ala143Thr)
n.264G>A
c.313G>A (p.Ala105Thr)
n.256G>A
c.277G>A (p.Ala93Thr)
n.650G>A
n.644G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52904790G>ACA237304461KRT8c.192C>T (p.Thr64=)
c.426C>T (p.Thr142=)
n.263C>T
c.312C>T (p.Thr104=)
n.255C>T
c.276C>T (p.Thr92=)
n.649C>T
n.643C>T
 dbSNP gnomAD v2 gnomAD v4
12g.52904790G>CCA480077983KRT8c.192C>G (p.Thr64=)
c.426C>G (p.Thr142=)
n.263C>G
c.312C>G (p.Thr104=)
n.255C>G
c.276C>G (p.Thr92=)
n.649C>G
n.643C>G
12g.52904790G=CA2036710296KRT8c.192C= (p.Thr64=)
c.426C= (p.Thr142=)
n.263C=
c.312C= (p.Thr104=)
n.255C=
c.276C= (p.Thr92=)
n.649C=
n.643C=
12g.52904790G>TCA480077985KRT8c.192C>A (p.Thr64=)
c.426C>A (p.Thr142=)
n.263C>A
c.312C>A (p.Thr104=)
n.255C>A
c.276C>A (p.Thr92=)
n.649C>A
n.643C>A
12g.52904791G>ACA384997178KRT8c.191C>T (p.Thr64Ile)
c.425C>T (p.Thr142Ile)
n.262C>T
c.311C>T (p.Thr104Ile)
n.254C>T
c.275C>T (p.Thr92Ile)
n.648C>T
n.642C>T
12g.52904791G>CCA384997180KRT8c.191C>G (p.Thr64Ser)
c.425C>G (p.Thr142Ser)
n.262C>G
c.311C>G (p.Thr104Ser)
n.254C>G
c.275C>G (p.Thr92Ser)
n.648C>G
n.642C>G
12g.52904791G>TCA384997179KRT8c.191C>A (p.Thr64Asn)
c.425C>A (p.Thr142Asn)
n.262C>A
c.311C>A (p.Thr104Asn)
n.254C>A
c.275C>A (p.Thr92Asn)
n.648C>A
n.642C>A
12g.52904792T>ACA384997181KRT8c.190A>T (p.Thr64Ser)
c.424A>T (p.Thr142Ser)
n.261A>T
c.310A>T (p.Thr104Ser)
n.253A>T
c.274A>T (p.Thr92Ser)
n.647A>T
n.641A>T
12g.52904792T>CCA384997182KRT8c.190A>G (p.Thr64Ala)
c.424A>G (p.Thr142Ala)
n.261A>G
c.310A>G (p.Thr104Ala)
n.253A>G
c.274A>G (p.Thr92Ala)
n.647A>G
n.641A>G
12g.52904792T>GCA384997183KRT8c.190A>C (p.Thr64Pro)
c.424A>C (p.Thr142Pro)
n.261A>C
c.310A>C (p.Thr104Pro)
n.253A>C
c.274A>C (p.Thr92Pro)
n.647A>C
n.641A>C
12g.52904793G>ACA480077993KRT8c.189C>T (p.Ile63=)
c.423C>T (p.Ile141=)
n.260C>T
c.309C>T (p.Ile103=)
n.252C>T
c.273C>T (p.Ile91=)
n.646C>T
n.640C>T
 gnomAD v4
12g.52904793G>CCA384997184KRT8c.189C>G (p.Ile63Met)
c.423C>G (p.Ile141Met)
n.260C>G
c.309C>G (p.Ile103Met)
n.252C>G
c.273C>G (p.Ile91Met)
n.646C>G
n.640C>G
12g.52904793G>TCA480077994KRT8c.189C>A (p.Ile63=)
c.423C>A (p.Ile141=)
n.260C>A
c.309C>A (p.Ile103=)
n.252C>A
c.273C>A (p.Ile91=)
n.646C>A
n.640C>A
12g.52904794A=CA2036710297KRT8c.188T= (p.Ile63=)
c.422T= (p.Ile141=)
n.259T=
c.308T= (p.Ile103=)
n.251T=
c.272T= (p.Ile91=)
n.645T=
n.639T=
12g.52904794A>CCA384997185KRT8c.188T>G (p.Ile63Ser)
c.422T>G (p.Ile141Ser)
n.259T>G
c.308T>G (p.Ile103Ser)
n.251T>G
c.272T>G (p.Ile91Ser)
n.645T>G
n.639T>G
12g.52904794A>GCA384997186KRT8c.188T>C (p.Ile63Thr)
c.422T>C (p.Ile141Thr)
n.259T>C
c.308T>C (p.Ile103Thr)
n.251T>C
c.272T>C (p.Ile91Thr)
n.645T>C
n.639T>C
 dbSNP gnomAD v3 gnomAD v4
12g.52904794A>TCA384997187KRT8c.188T>A (p.Ile63Asn)
c.422T>A (p.Ile141Asn)
n.259T>A
c.308T>A (p.Ile103Asn)
n.251T>A
c.272T>A (p.Ile91Asn)
n.645T>A
n.639T>A
12g.52904795T>ACA384997188KRT8c.187A>T (p.Ile63Phe)
c.421A>T (p.Ile141Phe)
n.258A>T
c.307A>T (p.Ile103Phe)
n.250A>T
c.271A>T (p.Ile91Phe)
n.644A>T
n.638A>T
12g.52904795T>CCA217264KRT8c.187A>G (p.Ile63Val)
c.421A>G (p.Ile141Val)
n.258A>G
c.307A>G (p.Ile103Val)
n.250A>G
c.271A>G (p.Ile91Val)
n.644A>G
n.638A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52904795T>GCA384997189KRT8c.187A>C (p.Ile63Leu)
c.421A>C (p.Ile141Leu)
n.258A>C
c.307A>C (p.Ile103Leu)
n.250A>C
c.271A>C (p.Ile91Leu)
n.644A>C
n.638A>C
12g.52904795T=CA2036710298KRT8c.187A= (p.Ile63=)
c.421A= (p.Ile141=)
n.258A=
c.307A= (p.Ile103=)
n.250A=
c.271A= (p.Ile91=)
n.644A=
n.638A=
12g.52904796G>ACA480078000KRT8c.186C>T (p.Gly62=)
c.420C>T (p.Gly140=)
n.257C>T
c.306C>T (p.Gly102=)
n.249C>T
c.270C>T (p.Gly90=)
n.643C>T
n.637C>T
 gnomAD v4
12g.52904796G>CCA480078002KRT8c.186C>G (p.Gly62=)
c.420C>G (p.Gly140=)
n.257C>G
c.306C>G (p.Gly102=)
n.249C>G
c.270C>G (p.Gly90=)
n.643C>G
n.637C>G
12g.52904796G>TCA480078004KRT8c.186C>A (p.Gly62=)
c.420C>A (p.Gly140=)
n.257C>A
c.306C>A (p.Gly102=)
n.249C>A
c.270C>A (p.Gly90=)
n.643C>A
n.637C>A
12g.52904797C>ACA384997192KRT8c.185G>T (p.Gly62Val)
c.419G>T (p.Gly140Val)
n.256G>T
c.305G>T (p.Gly102Val)
n.248G>T
c.269G>T (p.Gly90Val)
n.642G>T
n.636G>T
12g.52904797C>GCA384997191KRT8c.185G>C (p.Gly62Ala)
c.419G>C (p.Gly140Ala)
n.256G>C
c.305G>C (p.Gly102Ala)
n.248G>C
c.269G>C (p.Gly90Ala)
n.642G>C
n.636G>C
12g.52904797C>TCA384997190KRT8c.185G>A (p.Gly62Asp)
c.419G>A (p.Gly140Asp)
n.256G>A
c.305G>A (p.Gly102Asp)
n.248G>A
c.269G>A (p.Gly90Asp)
n.642G>A
n.636G>A
12g.52904798C>ACA124163KRT8c.184G>T (p.Gly62Cys)
c.418G>T (p.Gly140Cys)
n.255G>T
c.304G>T (p.Gly102Cys)
n.247G>T
c.268G>T (p.Gly90Cys)
n.641G>T
n.635G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52904798C=CA2036710301KRT8c.184G= (p.Gly62=)
c.418G= (p.Gly140=)
n.255G=
c.304G= (p.Gly102=)
n.247G=
c.268G= (p.Gly90=)
n.641G=
n.635G=
12g.52904798C>GCA384997193KRT8c.184G>C (p.Gly62Arg)
c.418G>C (p.Gly140Arg)
n.255G>C
c.304G>C (p.Gly102Arg)
n.247G>C
c.268G>C (p.Gly90Arg)
n.641G>C
n.635G>C
12g.52904798C>TCA384997194KRT8c.184G>A (p.Gly62Ser)
c.418G>A (p.Gly140Ser)
n.255G>A
c.304G>A (p.Gly102Ser)
n.247G>A
c.268G>A (p.Gly90Ser)
n.641G>A
n.635G>A
 gnomAD v4

Number of alleles fetched