Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.42040105G>ACA4231010GLI3c.961C>T (p.Leu321Phe)
c.784C>T (p.Leu262Phe)
n.938C>T
c.958C>T (p.Leu320Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040105G>CCA367329502GLI3c.961C>G (p.Leu321Val)
c.784C>G (p.Leu262Val)
n.938C>G
c.958C>G (p.Leu320Val)
gnomAD v4
7g.42040105G=CA1702691156GLI3c.961C= (p.Leu321=)
c.784C= (p.Leu262=)
n.938C=
c.958C= (p.Leu320=)
7g.42040105G>TCA367329503GLI3c.961C>A (p.Leu321Ile)
c.784C>A (p.Leu262Ile)
n.938C>A
c.958C>A (p.Leu320Ile)
7g.42040106A>CCA367329507GLI3c.960T>G (p.Ile320Met)
c.783T>G (p.Ile261Met)
n.937T>G
c.957T>G (p.Ile319Met)
7g.42040106A>GCA454533424GLI3c.960T>C (p.Ile320=)
c.783T>C (p.Ile261=)
n.937T>C
c.957T>C (p.Ile319=)
7g.42040106A>TCA454533427GLI3c.960T>A (p.Ile320=)
c.783T>A (p.Ile261=)
n.937T>A
c.957T>A (p.Ile319=)
7g.42040107A=CA1702691159GLI3c.959T= (p.Ile320=)
c.782T= (p.Ile261=)
n.936T=
c.956T= (p.Ile319=)
7g.42040107A>CCA367329511GLI3c.959T>G (p.Ile320Ser)
c.782T>G (p.Ile261Ser)
n.936T>G
c.956T>G (p.Ile319Ser)
7g.42040107A>GCA367329515GLI3c.959T>C (p.Ile320Thr)
c.782T>C (p.Ile261Thr)
n.936T>C
c.956T>C (p.Ile319Thr)
dbSNP
7g.42040107A>TCA367329513GLI3c.959T>A (p.Ile320Asn)
c.782T>A (p.Ile261Asn)
n.936T>A
c.956T>A (p.Ile319Asn)
7g.42040108T>ACA367329518GLI3c.958A>T (p.Ile320Phe)
c.781A>T (p.Ile261Phe)
n.935A>T
c.955A>T (p.Ile319Phe)
7g.42040108T>CCA367329520GLI3c.958A>G (p.Ile320Val)
c.781A>G (p.Ile261Val)
n.935A>G
c.955A>G (p.Ile319Val)
7g.42040108T>GCA367329523GLI3c.958A>C (p.Ile320Leu)
c.781A>C (p.Ile261Leu)
n.935A>C
c.955A>C (p.Ile319Leu)
7g.42040109C>ACA454533434GLI3c.957G>T (p.Thr319=)
c.780G>T (p.Thr260=)
n.934G>T
c.954G>T (p.Thr318=)
7g.42040109C=CA1702691164GLI3c.957G= (p.Thr319=)
c.780G= (p.Thr260=)
n.934G=
c.954G= (p.Thr318=)
7g.42040109C>GCA454533435GLI3c.957G>C (p.Thr319=)
c.780G>C (p.Thr260=)
n.934G>C
c.954G>C (p.Thr318=)
dbSNP gnomAD v2 gnomAD v4
7g.42040109C>TCA4231011GLI3c.957G>A (p.Thr319=)
c.780G>A (p.Thr260=)
n.934G>A
c.954G>A (p.Thr318=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040110G>ACA4231012GLI3c.956C>T (p.Thr319Met)
c.779C>T (p.Thr260Met)
n.933C>T
c.953C>T (p.Thr318Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.42040110G>CCA367329525GLI3c.956C>G (p.Thr319Arg)
c.779C>G (p.Thr260Arg)
n.933C>G
c.953C>G (p.Thr318Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.42040110G=CA1702691172GLI3c.956C= (p.Thr319=)
c.779C= (p.Thr260=)
n.933C=
c.953C= (p.Thr318=)
7g.42040110G>TCA367329528GLI3c.956C>A (p.Thr319Lys)
c.779C>A (p.Thr260Lys)
n.933C>A
c.953C>A (p.Thr318Lys)
dbSNP
7g.42040111T>ACA367329530GLI3c.955A>T (p.Thr319Ser)
c.778A>T (p.Thr260Ser)
n.932A>T
c.952A>T (p.Thr318Ser)
7g.42040111T>CCA367329532GLI3c.955A>G (p.Thr319Ala)
c.778A>G (p.Thr260Ala)
n.932A>G
c.952A>G (p.Thr318Ala)
7g.42040111T>GCA367329534GLI3c.955A>C (p.Thr319Pro)
c.778A>C (p.Thr260Pro)
n.932A>C
c.952A>C (p.Thr318Pro)
7g.42040112G>ACA4231013GLI3c.954C>T (p.Val318=)
c.777C>T (p.Val259=)
n.931C>T
c.951C>T (p.Val317=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040112G>CCA454533447GLI3c.954C>G (p.Val318=)
c.777C>G (p.Val259=)
n.931C>G
c.951C>G (p.Val317=)
7g.42040112G=CA1702691179GLI3c.954C= (p.Val318=)
c.777C= (p.Val259=)
n.931C=
c.951C= (p.Val317=)
7g.42040112G>TCA454533449GLI3c.954C>A (p.Val318=)
c.777C>A (p.Val259=)
n.931C>A
c.951C>A (p.Val317=)
7g.42040113A>CCA367329539GLI3c.953T>G (p.Val318Gly)
c.776T>G (p.Val259Gly)
n.930T>G
c.950T>G (p.Val317Gly)
7g.42040113A>GCA367329545GLI3c.953T>C (p.Val318Ala)
c.776T>C (p.Val259Ala)
n.930T>C
c.950T>C (p.Val317Ala)
7g.42040113A>TCA367329542GLI3c.953T>A (p.Val318Asp)
c.776T>A (p.Val259Asp)
n.930T>A
c.950T>A (p.Val317Asp)
7g.42040114C>ACA367329548GLI3c.952G>T (p.Val318Phe)
c.775G>T (p.Val259Phe)
n.929G>T
c.949G>T (p.Val317Phe)
7g.42040114C>GCA367329549GLI3c.952G>C (p.Val318Leu)
c.775G>C (p.Val259Leu)
n.929G>C
c.949G>C (p.Val317Leu)
7g.42040114C>TCA367329551GLI3c.952G>A (p.Val318Ile)
c.775G>A (p.Val259Ile)
n.929G>A
c.949G>A (p.Val317Ile)
7g.42040115C>ACA367329555GLI3c.951G>T (p.Leu317Phe)
c.774G>T (p.Leu258Phe)
n.928G>T
c.948G>T (p.Leu316Phe)
7g.42040115C>GCA367329557GLI3c.951G>C (p.Leu317Phe)
c.774G>C (p.Leu258Phe)
n.928G>C
c.948G>C (p.Leu316Phe)
7g.42040115C>TCA454533458GLI3c.951G>A (p.Leu317=)
c.774G>A (p.Leu258=)
n.928G>A
c.948G>A (p.Leu316=)
7g.42040116A>CCA367329560GLI3c.950T>G (p.Leu317Trp)
c.773T>G (p.Leu258Trp)
n.927T>G
c.947T>G (p.Leu316Trp)
gnomAD v4
7g.42040116A>GCA367329563GLI3c.950T>C (p.Leu317Ser)
c.773T>C (p.Leu258Ser)
n.927T>C
c.947T>C (p.Leu316Ser)
7g.42040116A>TCA367329565GLI3c.950T>A (p.Leu317Ter)
c.773T>A (p.Leu258Ter)
n.927T>A
c.947T>A (p.Leu316Ter)
7g.42040117A>CCA367329568GLI3c.949T>G (p.Leu317Val)
c.772T>G (p.Leu258Val)
n.926T>G
c.946T>G (p.Leu316Val)
7g.42040117A>GCA454533466GLI3c.949T>C (p.Leu317=)
c.772T>C (p.Leu258=)
n.926T>C
c.946T>C (p.Leu316=)
7g.42040117A>TCA367329570GLI3c.949T>A (p.Leu317Met)
c.772T>A (p.Leu258Met)
n.926T>A
c.946T>A (p.Leu316Met)
7g.42040118G>ACA454533470GLI3c.948C>T (p.Ser316=)
c.771C>T (p.Ser257=)
n.925C>T
c.945C>T (p.Ser315=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.42040118G>CCA454533471GLI3c.948C>G (p.Ser316=)
c.771C>G (p.Ser257=)
n.925C>G
c.945C>G (p.Ser315=)
7g.42040118G=CA1702691185GLI3c.948C= (p.Ser316=)
c.771C= (p.Ser257=)
n.925C=
c.945C= (p.Ser315=)
7g.42040118G>TCA454533473GLI3c.948C>A (p.Ser316=)
c.771C>A (p.Ser257=)
n.925C>A
c.945C>A (p.Ser315=)
7g.42040119G>ACA367329573GLI3c.947C>T (p.Ser316Phe)
c.770C>T (p.Ser257Phe)
n.924C>T
c.944C>T (p.Ser315Phe)
7g.42040119G>CCA367329575GLI3c.947C>G (p.Ser316Cys)
c.770C>G (p.Ser257Cys)
n.924C>G
c.944C>G (p.Ser315Cys)
7g.42040119G>TCA367329576GLI3c.947C>A (p.Ser316Tyr)
c.770C>A (p.Ser257Tyr)
n.924C>A
c.944C>A (p.Ser315Tyr)
7g.42040120A>CCA367329578GLI3c.946T>G (p.Ser316Ala)
c.769T>G (p.Ser257Ala)
n.923T>G
c.943T>G (p.Ser315Ala)
7g.42040120A>GCA367329580GLI3c.946T>C (p.Ser316Pro)
c.769T>C (p.Ser257Pro)
n.923T>C
c.943T>C (p.Ser315Pro)
7g.42040120A>TCA367329579GLI3c.946T>A (p.Ser316Thr)
c.769T>A (p.Ser257Thr)
n.923T>A
c.943T>A (p.Ser315Thr)
7g.42040121G>ACA454533482GLI3c.945C>T (p.Asn315=)
c.768C>T (p.Asn256=)
n.922C>T
c.942C>T (p.Asn314=)
dbSNP gnomAD v3 gnomAD v4
7g.42040121G>CCA367329581GLI3c.945C>G (p.Asn315Lys)
c.768C>G (p.Asn256Lys)
n.922C>G
c.942C>G (p.Asn314Lys)
7g.42040121G=CA1702691187GLI3c.945C= (p.Asn315=)
c.768C= (p.Asn256=)
n.922C=
c.942C= (p.Asn314=)
7g.42040121G>TCA4231014GLI3c.945C>A (p.Asn315Lys)
c.768C>A (p.Asn256Lys)
n.922C>A
c.942C>A (p.Asn314Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040122T>ACA367329582GLI3c.944A>T (p.Asn315Ile)
c.767A>T (p.Asn256Ile)
n.921A>T
c.941A>T (p.Asn314Ile)
dbSNP
7g.42040122T>CCA367329583GLI3c.944A>G (p.Asn315Ser)
c.767A>G (p.Asn256Ser)
n.921A>G
c.941A>G (p.Asn314Ser)
gnomAD v4
7g.42040122T>GCA367329584GLI3c.944A>C (p.Asn315Thr)
c.767A>C (p.Asn256Thr)
n.921A>C
c.941A>C (p.Asn314Thr)
7g.42040122T=CA1702691195GLI3c.944A= (p.Asn315=)
c.767A= (p.Asn256=)
n.921A=
c.941A= (p.Asn314=)
7g.42040123T>ACA367329585GLI3c.943A>T (p.Asn315Tyr)
c.766A>T (p.Asn256Tyr)
n.920A>T
c.940A>T (p.Asn314Tyr)
7g.42040123T>CCA367329586GLI3c.943A>G (p.Asn315Asp)
c.766A>G (p.Asn256Asp)
n.920A>G
c.940A>G (p.Asn314Asp)
7g.42040123T>GCA367329587GLI3c.943A>C (p.Asn315His)
c.766A>C (p.Asn256His)
n.920A>C
c.940A>C (p.Asn314His)
7g.42040124G>ACA454533492GLI3c.942C>T (p.Pro314=)
c.765C>T (p.Pro255=)
n.919C>T
c.939C>T (p.Pro313=)
7g.42040124G>CCA454533494GLI3c.942C>G (p.Pro314=)
c.765C>G (p.Pro255=)
n.919C>G
c.939C>G (p.Pro313=)
7g.42040124G>TCA454533496GLI3c.942C>A (p.Pro314=)
c.765C>A (p.Pro255=)
n.919C>A
c.939C>A (p.Pro313=)
7g.42040125G>ACA156907397GLI3c.941C>T (p.Pro314Leu)
c.764C>T (p.Pro255Leu)
n.918C>T
c.938C>T (p.Pro313Leu)
dbSNP gnomAD v4
7g.42040125G>CCA367329588GLI3c.941C>G (p.Pro314Arg)
c.764C>G (p.Pro255Arg)
n.918C>G
c.938C>G (p.Pro313Arg)
7g.42040125G=CA1702691199GLI3c.941C= (p.Pro314=)
c.764C= (p.Pro255=)
n.918C=
c.938C= (p.Pro313=)
7g.42040125G>TCA367329589GLI3c.941C>A (p.Pro314His)
c.764C>A (p.Pro255His)
n.918C>A
c.938C>A (p.Pro313His)
7g.42040126G>ACA367329591GLI3c.940C>T (p.Pro314Ser)
c.763C>T (p.Pro255Ser)
n.917C>T
c.937C>T (p.Pro313Ser)
7g.42040126G>CCA156907414GLI3c.940C>G (p.Pro314Ala)
c.763C>G (p.Pro255Ala)
n.917C>G
c.937C>G (p.Pro313Ala)
dbSNP gnomAD v4
7g.42040126G=CA1702691207GLI3c.940C= (p.Pro314=)
c.763C= (p.Pro255=)
n.917C=
c.937C= (p.Pro313=)
7g.42040126G>TCA367329590GLI3c.940C>A (p.Pro314Thr)
c.763C>A (p.Pro255Thr)
n.917C>A
c.937C>A (p.Pro313Thr)
7g.42040127A>CCA454533505GLI3c.939T>G (p.Ser313=)
c.762T>G (p.Ser254=)
n.916T>G
c.936T>G (p.Ser312=)
7g.42040127A>GCA454533507GLI3c.939T>C (p.Ser313=)
c.762T>C (p.Ser254=)
n.916T>C
c.936T>C (p.Ser312=)
7g.42040127A>TCA454533509GLI3c.939T>A (p.Ser313=)
c.762T>A (p.Ser254=)
n.916T>A
c.936T>A (p.Ser312=)
7g.42040128G>ACA367329594GLI3c.938C>T (p.Ser313Phe)
c.761C>T (p.Ser254Phe)
n.915C>T
c.935C>T (p.Ser312Phe)
7g.42040128G>CCA367329592GLI3c.938C>G (p.Ser313Cys)
c.761C>G (p.Ser254Cys)
n.915C>G
c.935C>G (p.Ser312Cys)
7g.42040128G>TCA367329593GLI3c.938C>A (p.Ser313Tyr)
c.761C>A (p.Ser254Tyr)
n.915C>A
c.935C>A (p.Ser312Tyr)
7g.42040129A>CCA367329595GLI3c.937T>G (p.Ser313Ala)
c.760T>G (p.Ser254Ala)
n.914T>G
c.934T>G (p.Ser312Ala)
7g.42040129A>GCA367329596GLI3c.937T>C (p.Ser313Pro)
c.760T>C (p.Ser254Pro)
n.914T>C
c.934T>C (p.Ser312Pro)
7g.42040129A>TCA367329597GLI3c.937T>A (p.Ser313Thr)
c.760T>A (p.Ser254Thr)
n.914T>A
c.934T>A (p.Ser312Thr)
7g.42040130C>ACA4231016GLI3c.936G>T (p.Thr312=)
c.759G>T (p.Thr253=)
n.913G>T
c.933G>T (p.Thr311=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.42040130C=CA1702691214GLI3c.936G= (p.Thr312=)
c.759G= (p.Thr253=)
n.913G=
c.933G= (p.Thr311=)
7g.42040130C>GCA454533517GLI3c.936G>C (p.Thr312=)
c.759G>C (p.Thr253=)
n.913G>C
c.933G>C (p.Thr311=)
7g.42040130C>TCA4231015GLI3c.936G>A (p.Thr312=)
c.759G>A (p.Thr253=)
n.913G>A
c.933G>A (p.Thr311=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040131G>ACA4231017GLI3c.935C>T (p.Thr312Met)
c.758C>T (p.Thr253Met)
n.912C>T
c.932C>T (p.Thr311Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.42040131G>CCA367329598GLI3c.935C>G (p.Thr312Arg)
c.758C>G (p.Thr253Arg)
n.912C>G
c.932C>G (p.Thr311Arg)
7g.42040131G=CA1702691225GLI3c.935C= (p.Thr312=)
c.758C= (p.Thr253=)
n.912C=
c.932C= (p.Thr311=)
7g.42040131G>TCA367329599GLI3c.935C>A (p.Thr312Lys)
c.758C>A (p.Thr253Lys)
n.912C>A
c.932C>A (p.Thr311Lys)
7g.42040132T>ACA367329600GLI3c.934A>T (p.Thr312Ser)
c.757A>T (p.Thr253Ser)
n.911A>T
c.931A>T (p.Thr311Ser)
7g.42040132T>CCA367329601GLI3c.934A>G (p.Thr312Ala)
c.757A>G (p.Thr253Ala)
n.911A>G
c.931A>G (p.Thr311Ala)
7g.42040132T>GCA367329602GLI3c.934A>C (p.Thr312Pro)
c.757A>C (p.Thr253Pro)
n.911A>C
c.931A>C (p.Thr311Pro)
7g.42040133C>ACA367329603GLI3c.933G>T (p.Arg311Ser)
c.756G>T (p.Arg252Ser)
n.910G>T
c.930G>T (p.Arg310Ser)
7g.42040133C>GCA367329604GLI3c.933G>C (p.Arg311Ser)
c.756G>C (p.Arg252Ser)
n.910G>C
c.930G>C (p.Arg310Ser)
7g.42040133C>TCA454533530GLI3c.933G>A (p.Arg311=)
c.756G>A (p.Arg252=)
n.910G>A
c.930G>A (p.Arg310=)
7g.42040134C>ACA367329605GLI3c.932G>T (p.Arg311Met)
c.755G>T (p.Arg252Met)
n.909G>T
c.929G>T (p.Arg310Met)
7g.42040134C>GCA367329606GLI3c.932G>C (p.Arg311Thr)
c.755G>C (p.Arg252Thr)
n.909G>C
c.929G>C (p.Arg310Thr)
7g.42040134C>TCA367329607GLI3c.932G>A (p.Arg311Lys)
c.755G>A (p.Arg252Lys)
n.909G>A
c.929G>A (p.Arg310Lys)
7g.42040135T>ACA367329608GLI3c.931A>T (p.Arg311Trp)
c.754A>T (p.Arg252Trp)
n.908A>T
c.928A>T (p.Arg310Trp)
7g.42040135T>CCA367329609GLI3c.931A>G (p.Arg311Gly)
c.754A>G (p.Arg252Gly)
n.908A>G
c.928A>G (p.Arg310Gly)
7g.42040135T>GCA454533537GLI3c.931A>C (p.Arg311=)
c.754A>C (p.Arg252=)
n.908A>C
c.928A>C (p.Arg310=)
7g.42040136delCA2695207669GLI3c.931del (p.Arg311GlyfsTer?)
c.754del (p.Arg252GlyfsTer?)
n.908del
c.928del (p.Arg310GlyfsTer?)
7g.42040136T>ACA454533538GLI3c.930A>T (p.Ile310=)
c.753A>T (p.Ile251=)
n.907A>T
c.927A>T (p.Ile309=)
7g.42040136T>CCA367329610GLI3c.930A>G (p.Ile310Met)
c.753A>G (p.Ile251Met)
n.907A>G
c.927A>G (p.Ile309Met)
7g.42040136T>GCA454533541GLI3c.930A>C (p.Ile310=)
c.753A>C (p.Ile251=)
n.907A>C
c.927A>C (p.Ile309=)
7g.42040137A>CCA367329611GLI3c.929T>G (p.Ile310Arg)
c.752T>G (p.Ile251Arg)
n.906T>G
c.926T>G (p.Ile309Arg)
7g.42040137A>GCA367329612GLI3c.929T>C (p.Ile310Thr)
c.752T>C (p.Ile251Thr)
n.906T>C
c.926T>C (p.Ile309Thr)
7g.42040137A>TCA367329613GLI3c.929T>A (p.Ile310Lys)
c.752T>A (p.Ile251Lys)
n.906T>A
c.926T>A (p.Ile309Lys)
gnomAD v4
7g.42040138T>ACA367329614GLI3c.928A>T (p.Ile310Leu)
c.751A>T (p.Ile251Leu)
n.905A>T
c.925A>T (p.Ile309Leu)
7g.42040138T>CCA367329615GLI3c.928A>G (p.Ile310Val)
c.751A>G (p.Ile251Val)
n.905A>G
c.925A>G (p.Ile309Val)
7g.42040138T>GCA156907423GLI3c.928A>C (p.Ile310Leu)
c.751A>C (p.Ile251Leu)
n.905A>C
c.925A>C (p.Ile309Leu)
dbSNP
7g.42040138T=CA1702691234GLI3c.928A= (p.Ile310=)
c.751A= (p.Ile251=)
n.905A=
c.925A= (p.Ile309=)
7g.42040139C>ACA367329617GLI3c.927G>T (p.Met309Ile)
c.750G>T (p.Met250Ile)
n.904G>T
c.924G>T (p.Met308Ile)
7g.42040139C>GCA367329618GLI3c.927G>C (p.Met309Ile)
c.750G>C (p.Met250Ile)
n.904G>C
c.924G>C (p.Met308Ile)
7g.42040139C>TCA367329616GLI3c.927G>A (p.Met309Ile)
c.750G>A (p.Met250Ile)
n.904G>A
c.924G>A (p.Met308Ile)
7g.42040140A>CCA367329619GLI3c.926T>G (p.Met309Arg)
c.749T>G (p.Met250Arg)
n.903T>G
c.923T>G (p.Met308Arg)
7g.42040140A>GCA367329620GLI3c.926T>C (p.Met309Thr)
c.749T>C (p.Met250Thr)
n.903T>C
c.923T>C (p.Met308Thr)
7g.42040140A>TCA367329621GLI3c.926T>A (p.Met309Lys)
c.749T>A (p.Met250Lys)
n.903T>A
c.923T>A (p.Met308Lys)
7g.42040141T>ACA367329622GLI3c.925A>T (p.Met309Leu)
c.748A>T (p.Met250Leu)
n.902A>T
c.922A>T (p.Met308Leu)
7g.42040141T>CCA367329623GLI3c.925A>G (p.Met309Val)
c.748A>G (p.Met250Val)
n.902A>G
c.922A>G (p.Met308Val)
ClinVar gnomAD v4
7g.42040141T>GCA367329624GLI3c.925A>C (p.Met309Leu)
c.748A>C (p.Met250Leu)
n.902A>C
c.922A>C (p.Met308Leu)
7g.42040142G>ACA454533562GLI3c.924C>T (p.Thr308=)
c.747C>T (p.Thr249=)
n.901C>T
c.921C>T (p.Thr307=)
7g.42040142G>CCA454533564GLI3c.924C>G (p.Thr308=)
c.747C>G (p.Thr249=)
n.901C>G
c.921C>G (p.Thr307=)
dbSNP gnomAD v2 gnomAD v4
7g.42040142G=CA1702691239GLI3c.924C= (p.Thr308=)
c.747C= (p.Thr249=)
n.901C=
c.921C= (p.Thr307=)
7g.42040142G>TCA4231018GLI3c.924C>A (p.Thr308=)
c.747C>A (p.Thr249=)
n.901C>A
c.921C>A (p.Thr307=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.42040143delCA2695207670GLI3c.924del (p.Met309Ter)
c.747del (p.Met250Ter)
n.901del
c.921del (p.Met308Ter)
7g.42040143G>ACA367329625GLI3c.923C>T (p.Thr308Ile)
c.746C>T (p.Thr249Ile)
n.900C>T
c.920C>T (p.Thr307Ile)
7g.42040143G>CCA367329627GLI3c.923C>G (p.Thr308Ser)
c.746C>G (p.Thr249Ser)
n.900C>G
c.920C>G (p.Thr307Ser)
7g.42040143G>TCA367329626GLI3c.923C>A (p.Thr308Asn)
c.746C>A (p.Thr249Asn)
n.900C>A
c.920C>A (p.Thr307Asn)
7g.42040144T>ACA367329628GLI3c.922A>T (p.Thr308Ser)
c.745A>T (p.Thr249Ser)
n.899A>T
c.919A>T (p.Thr307Ser)
7g.42040144T>CCA156907440GLI3c.922A>G (p.Thr308Ala)
c.745A>G (p.Thr249Ala)
n.899A>G
c.919A>G (p.Thr307Ala)
dbSNP
7g.42040144T>GCA367329629GLI3c.922A>C (p.Thr308Pro)
c.745A>C (p.Thr249Pro)
n.899A>C
c.919A>C (p.Thr307Pro)
7g.42040144T=CA1702691244GLI3c.922A= (p.Thr308=)
c.745A= (p.Thr249=)
n.899A=
c.919A= (p.Thr307=)
7g.42040145C>ACA367329630GLI3c.921G>T (p.Gln307His)
c.744G>T (p.Gln248His)
n.898G>T
c.918G>T (p.Gln306His)
7g.42040145C>GCA367329631GLI3c.921G>C (p.Gln307His)
c.744G>C (p.Gln248His)
n.898G>C
c.918G>C (p.Gln306His)
7g.42040145C>TCA454533571GLI3c.921G>A (p.Gln307=)
c.744G>A (p.Gln248=)
n.898G>A
c.918G>A (p.Gln306=)
7g.42040146T>ACA367329632GLI3c.920A>T (p.Gln307Leu)
c.743A>T (p.Gln248Leu)
n.897A>T
c.917A>T (p.Gln306Leu)
7g.42040146T>CCA367329634GLI3c.920A>G (p.Gln307Arg)
c.743A>G (p.Gln248Arg)
n.897A>G
c.917A>G (p.Gln306Arg)
7g.42040146T>GCA367329633GLI3c.920A>C (p.Gln307Pro)
c.743A>C (p.Gln248Pro)
n.897A>C
c.917A>C (p.Gln306Pro)
7g.42040147G>ACA367329635GLI3c.919C>T (p.Gln307Ter)
c.742C>T (p.Gln248Ter)
n.896C>T
c.916C>T (p.Gln306Ter)
7g.42040147G>CCA367329636GLI3c.919C>G (p.Gln307Glu)
c.742C>G (p.Gln248Glu)
n.896C>G
c.916C>G (p.Gln306Glu)
7g.42040147G>TCA367329637GLI3c.919C>A (p.Gln307Lys)
c.742C>A (p.Gln248Lys)
n.896C>A
c.916C>A (p.Gln306Lys)
7g.42040148A=CA1702691251GLI3c.918T= (p.Leu306=)
c.741T= (p.Leu247=)
n.895T=
c.915T= (p.Leu305=)
7g.42040148A>CCA4231019GLI3c.918T>G (p.Leu306=)
c.741T>G (p.Leu247=)
n.895T>G
c.915T>G (p.Leu305=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040148A>GCA454533584GLI3c.918T>C (p.Leu306=)
c.741T>C (p.Leu247=)
n.895T>C
c.915T>C (p.Leu305=)
7g.42040148A>TCA454533582GLI3c.918T>A (p.Leu306=)
c.741T>A (p.Leu247=)
n.895T>A
c.915T>A (p.Leu305=)
7g.42040149A>CCA367329638GLI3c.917T>G (p.Leu306Arg)
c.740T>G (p.Leu247Arg)
n.894T>G
c.914T>G (p.Leu305Arg)
7g.42040149A>GCA367329639GLI3c.917T>C (p.Leu306Pro)
c.740T>C (p.Leu247Pro)
n.894T>C
c.914T>C (p.Leu305Pro)
7g.42040149A>TCA367329640GLI3c.917T>A (p.Leu306His)
c.740T>A (p.Leu247His)
n.894T>A
c.914T>A (p.Leu305His)
7g.42040150G>ACA367329641GLI3c.916C>T (p.Leu306Phe)
c.739C>T (p.Leu247Phe)
n.893C>T
c.913C>T (p.Leu305Phe)
7g.42040150G>CCA367329642GLI3c.916C>G (p.Leu306Val)
c.739C>G (p.Leu247Val)
n.893C>G
c.913C>G (p.Leu305Val)
7g.42040150G>TCA367329643GLI3c.916C>A (p.Leu306Ile)
c.739C>A (p.Leu247Ile)
n.893C>A
c.913C>A (p.Leu305Ile)
gnomAD v4
7g.42040151G>ACA454533591GLI3c.915C>T (p.Asp305=)
c.738C>T (p.Asp246=)
n.892C>T
c.912C>T (p.Asp304=)
gnomAD v4
7g.42040151G>CCA367329644GLI3c.915C>G (p.Asp305Glu)
c.738C>G (p.Asp246Glu)
n.892C>G
c.912C>G (p.Asp304Glu)
7g.42040151G>TCA367329645GLI3c.915C>A (p.Asp305Glu)
c.738C>A (p.Asp246Glu)
n.892C>A
c.912C>A (p.Asp304Glu)
7g.42040152T>ACA367329648GLI3c.914A>T (p.Asp305Val)
c.737A>T (p.Asp246Val)
n.891A>T
c.911A>T (p.Asp304Val)
7g.42040152T>CCA367329647GLI3c.914A>G (p.Asp305Gly)
c.737A>G (p.Asp246Gly)
n.891A>G
c.911A>G (p.Asp304Gly)
7g.42040152T>GCA367329646GLI3c.914A>C (p.Asp305Ala)
c.737A>C (p.Asp246Ala)
n.891A>C
c.911A>C (p.Asp304Ala)
7g.42040153C>ACA367329649GLI3c.913G>T (p.Asp305Tyr)
c.736G>T (p.Asp246Tyr)
n.890G>T
c.910G>T (p.Asp304Tyr)
7g.42040153C>GCA367329651GLI3c.913G>C (p.Asp305His)
c.736G>C (p.Asp246His)
n.890G>C
c.910G>C (p.Asp304His)
7g.42040153C>TCA367329650GLI3c.913G>A (p.Asp305Asn)
c.736G>A (p.Asp246Asn)
n.890G>A
c.910G>A (p.Asp304Asn)
7g.42040154A>CCA367329652GLI3c.912T>G (p.Phe304Leu)
c.735T>G (p.Phe245Leu)
n.889T>G
c.909T>G (p.Phe303Leu)
7g.42040154A>GCA454533604GLI3c.912T>C (p.Phe304=)
c.735T>C (p.Phe245=)
n.889T>C
c.909T>C (p.Phe303=)
7g.42040154A>TCA367329653GLI3c.912T>A (p.Phe304Leu)
c.735T>A (p.Phe245Leu)
n.889T>A
c.909T>A (p.Phe303Leu)
7g.42040155A>CCA367329654GLI3c.911T>G (p.Phe304Cys)
c.734T>G (p.Phe245Cys)
n.888T>G
c.908T>G (p.Phe303Cys)
COSMIC
7g.42040155A>GCA367329655GLI3c.911T>C (p.Phe304Ser)
c.734T>C (p.Phe245Ser)
n.888T>C
c.908T>C (p.Phe303Ser)
7g.42040155A>TCA367329656GLI3c.911T>A (p.Phe304Tyr)
c.734T>A (p.Phe245Tyr)
n.888T>A
c.908T>A (p.Phe303Tyr)
7g.42040156A>CCA367329657GLI3c.910T>G (p.Phe304Val)
c.733T>G (p.Phe245Val)
n.887T>G
c.907T>G (p.Phe303Val)
7g.42040156A>GCA367329658GLI3c.910T>C (p.Phe304Leu)
c.733T>C (p.Phe245Leu)
n.887T>C
c.907T>C (p.Phe303Leu)
7g.42040156A>TCA367329659GLI3c.910T>A (p.Phe304Ile)
c.733T>A (p.Phe245Ile)
n.887T>A
c.907T>A (p.Phe303Ile)
7g.42040157G>ACA454533621GLI3c.909C>T (p.Ser303=)
c.732C>T (p.Ser244=)
n.886C>T
c.906C>T (p.Ser302=)
7g.42040157G>CCA367329660GLI3c.909C>G (p.Ser303Arg)
c.732C>G (p.Ser244Arg)
n.886C>G
c.906C>G (p.Ser302Arg)
7g.42040157G>TCA367329661GLI3c.909C>A (p.Ser303Arg)
c.732C>A (p.Ser244Arg)
n.886C>A
c.906C>A (p.Ser302Arg)
7g.42040158C>ACA367329662GLI3c.908G>T (p.Ser303Ile)
c.731G>T (p.Ser244Ile)
n.885G>T
c.905G>T (p.Ser302Ile)
7g.42040158C=CA1702691254GLI3c.908G= (p.Ser303=)
c.731G= (p.Ser244=)
n.885G=
c.905G= (p.Ser302=)
7g.42040158C>GCA367329663GLI3c.908G>C (p.Ser303Thr)
c.731G>C (p.Ser244Thr)
n.885G>C
c.905G>C (p.Ser302Thr)
7g.42040158C>TCA4231020GLI3c.908G>A (p.Ser303Asn)
c.731G>A (p.Ser244Asn)
n.885G>A
c.905G>A (p.Ser302Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040159T>ACA367329664GLI3c.907A>T (p.Ser303Cys)
c.730A>T (p.Ser244Cys)
n.884A>T
c.904A>T (p.Ser302Cys)
7g.42040159T>CCA367329665GLI3c.907A>G (p.Ser303Gly)
c.730A>G (p.Ser244Gly)
n.884A>G
c.904A>G (p.Ser302Gly)
7g.42040159T>GCA367329666GLI3c.907A>C (p.Ser303Arg)
c.730A>C (p.Ser244Arg)
n.884A>C
c.904A>C (p.Ser302Arg)
7g.42040160A=CA1702691262GLI3c.906T= (p.His302=)
c.729T= (p.His243=)
n.883T=
c.903T= (p.His301=)
7g.42040160A>CCA367329667GLI3c.906T>G (p.His302Gln)
c.729T>G (p.His243Gln)
n.883T>G
c.903T>G (p.His301Gln)
7g.42040160A>GCA454533632GLI3c.906T>C (p.His302=)
c.729T>C (p.His243=)
n.883T>C
c.903T>C (p.His301=)
dbSNP gnomAD v2 gnomAD v4
7g.42040160A>TCA367329668GLI3c.906T>A (p.His302Gln)
c.729T>A (p.His243Gln)
n.883T>A
c.903T>A (p.His301Gln)
7g.42040161T>ACA367329669GLI3c.905A>T (p.His302Leu)
c.728A>T (p.His243Leu)
n.882A>T
c.902A>T (p.His301Leu)
7g.42040161T>CCA4231021GLI3c.905A>G (p.His302Arg)
c.728A>G (p.His243Arg)
n.882A>G
c.902A>G (p.His301Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040161T>GCA367329670GLI3c.905A>C (p.His302Pro)
c.728A>C (p.His243Pro)
n.882A>C
c.902A>C (p.His301Pro)
7g.42040161T=CA1702691264GLI3c.905A= (p.His302=)
c.728A= (p.His243=)
n.882A=
c.902A= (p.His301=)
7g.42040162G>ACA367329671GLI3c.904C>T (p.His302Tyr)
c.727C>T (p.His243Tyr)
n.881C>T
c.901C>T (p.His301Tyr)
gnomAD v4
7g.42040162G>CCA367329672GLI3c.904C>G (p.His302Asp)
c.727C>G (p.His243Asp)
n.881C>G
c.901C>G (p.His301Asp)
7g.42040162G>TCA367329673GLI3c.904C>A (p.His302Asn)
c.727C>A (p.His243Asn)
n.881C>A
c.901C>A (p.His301Asn)
7g.42040163A=CA1702691270GLI3c.903T= (p.Asp301=)
c.726T= (p.Asp242=)
n.880T=
c.900T= (p.Asp300=)
7g.42040163A>CCA367329674GLI3c.903T>G (p.Asp301Glu)
c.726T>G (p.Asp242Glu)
n.880T>G
c.900T>G (p.Asp300Glu)
7g.42040163A>GCA4231022GLI3c.903T>C (p.Asp301=)
c.726T>C (p.Asp242=)
n.880T>C
c.900T>C (p.Asp300=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.42040163A>TCA367329675GLI3c.903T>A (p.Asp301Glu)
c.726T>A (p.Asp242Glu)
n.880T>A
c.900T>A (p.Asp300Glu)
7g.42040164T>ACA367329676GLI3c.902A>T (p.Asp301Val)
c.725A>T (p.Asp242Val)
n.879A>T
c.899A>T (p.Asp300Val)
7g.42040164T>CCA367329677GLI3c.902A>G (p.Asp301Gly)
c.725A>G (p.Asp242Gly)
n.879A>G
c.899A>G (p.Asp300Gly)
7g.42040164T>GCA367329678GLI3c.902A>C (p.Asp301Ala)
c.725A>C (p.Asp242Ala)
n.879A>C
c.899A>C (p.Asp300Ala)
gnomAD v4
7g.42040165C>ACA367329680GLI3c.901G>T (p.Asp301Tyr)
c.724G>T (p.Asp242Tyr)
n.878G>T
c.898G>T (p.Asp300Tyr)
7g.42040165C=CA1702691275GLI3c.901G= (p.Asp301=)
c.724G= (p.Asp242=)
n.878G=
c.898G= (p.Asp300=)
7g.42040165C>GCA367329679GLI3c.901G>C (p.Asp301His)
c.724G>C (p.Asp242His)
n.878G>C
c.898G>C (p.Asp300His)
7g.42040165C>TCA4231023GLI3c.901G>A (p.Asp301Asn)
c.724G>A (p.Asp242Asn)
n.878G>A
c.898G>A (p.Asp300Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.42040166G>ACA4231024GLI3c.900C>T (p.Ser300=)
c.723C>T (p.Ser241=)
n.877C>T
c.897C>T (p.Ser299=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040166G>CCA454533651GLI3c.900C>G (p.Ser300=)
c.723C>G (p.Ser241=)
n.877C>G
c.897C>G (p.Ser299=)
7g.42040166G=CA1702691279GLI3c.900C= (p.Ser300=)
c.723C= (p.Ser241=)
n.877C=
c.897C= (p.Ser299=)
7g.42040166G>TCA454533653GLI3c.900C>A (p.Ser300=)
c.723C>A (p.Ser241=)
n.877C>A
c.897C>A (p.Ser299=)
7g.42040167_42040169dupCA2580077117GLI3c.898_900dup (p.Ser300_Asp301insSer)
c.721_723dup (p.Ser241_Asp242insSer)
n.875_877dup
c.895_897dup (p.Ser299_Asp300insSer)
ClinVar
7g.42040167G>ACA367329681GLI3c.899C>T (p.Ser300Phe)
c.722C>T (p.Ser241Phe)
n.876C>T
c.896C>T (p.Ser299Phe)
7g.42040167G>CCA367329682GLI3c.899C>G (p.Ser300Cys)
c.722C>G (p.Ser241Cys)
n.876C>G
c.896C>G (p.Ser299Cys)
7g.42040167G>TCA367329683GLI3c.899C>A (p.Ser300Tyr)
c.722C>A (p.Ser241Tyr)
n.876C>A
c.896C>A (p.Ser299Tyr)
gnomAD v4
7g.42040168A>CCA367329684GLI3c.898T>G (p.Ser300Ala)
c.721T>G (p.Ser241Ala)
n.875T>G
c.895T>G (p.Ser299Ala)
7g.42040168A>GCA367329685GLI3c.898T>C (p.Ser300Pro)
c.721T>C (p.Ser241Pro)
n.875T>C
c.895T>C (p.Ser299Pro)
gnomAD v4
7g.42040168A>TCA367329686GLI3c.898T>A (p.Ser300Thr)
c.721T>A (p.Ser241Thr)
n.875T>A
c.895T>A (p.Ser299Thr)
7g.42040169G>ACA156907476GLI3c.897C>T (p.Leu299=)
c.720C>T (p.Leu240=)
n.874C>T
c.894C>T (p.Leu298=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.42040169G>CCA454533666GLI3c.897C>G (p.Leu299=)
c.720C>G (p.Leu240=)
n.874C>G
c.894C>G (p.Leu298=)
dbSNP
7g.42040169G=CA1702691284GLI3c.897C= (p.Leu299=)
c.720C= (p.Leu240=)
n.874C=
c.894C= (p.Leu298=)
7g.42040169G>TCA454533668GLI3c.897C>A (p.Leu299=)
c.720C>A (p.Leu240=)
n.874C>A
c.894C>A (p.Leu298=)
7g.42040170A=CA1702691289GLI3c.896T= (p.Leu299=)
c.719T= (p.Leu240=)
n.873T=
c.893T= (p.Leu298=)
7g.42040170A>CCA367329687GLI3c.896T>G (p.Leu299Arg)
c.719T>G (p.Leu240Arg)
n.873T>G
c.893T>G (p.Leu298Arg)
7g.42040170A>GCA367329688GLI3c.896T>C (p.Leu299Pro)
c.719T>C (p.Leu240Pro)
n.873T>C
c.893T>C (p.Leu298Pro)
dbSNP gnomAD v2 gnomAD v4
7g.42040170A>TCA367329689GLI3c.896T>A (p.Leu299His)
c.719T>A (p.Leu240His)
n.873T>A
c.893T>A (p.Leu298His)
7g.42040171G>ACA367329690GLI3c.895C>T (p.Leu299Phe)
c.718C>T (p.Leu240Phe)
n.872C>T
c.892C>T (p.Leu298Phe)
7g.42040171G>CCA367329691GLI3c.895C>G (p.Leu299Val)
c.718C>G (p.Leu240Val)
n.872C>G
c.892C>G (p.Leu298Val)
7g.42040171G>TCA367329692GLI3c.895C>A (p.Leu299Ile)
c.718C>A (p.Leu240Ile)
n.872C>A
c.892C>A (p.Leu298Ile)
7g.42040172T>ACA454533675GLI3c.894A>T (p.Pro298=)
c.717A>T (p.Pro239=)
n.871A>T
c.891A>T (p.Pro297=)
7g.42040172T>CCA454533676GLI3c.894A>G (p.Pro298=)
c.717A>G (p.Pro239=)
n.871A>G
c.891A>G (p.Pro297=)
7g.42040172T>GCA4231025GLI3c.894A>C (p.Pro298=)
c.717A>C (p.Pro239=)
n.871A>C
c.891A>C (p.Pro297=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040172T=CA1702691296GLI3c.894A= (p.Pro298=)
c.717A= (p.Pro239=)
n.871A=
c.891A= (p.Pro297=)
7g.42040173G>ACA367329695GLI3c.893C>T (p.Pro298Leu)
c.716C>T (p.Pro239Leu)
n.870C>T
c.890C>T (p.Pro297Leu)
gnomAD v4
7g.42040173G>CCA367329693GLI3c.893C>G (p.Pro298Arg)
c.716C>G (p.Pro239Arg)
n.870C>G
c.890C>G (p.Pro297Arg)
7g.42040173G>TCA367329694GLI3c.893C>A (p.Pro298Gln)
c.716C>A (p.Pro239Gln)
n.870C>A
c.890C>A (p.Pro297Gln)
7g.42040174G>ACA367329696GLI3c.892C>T (p.Pro298Ser)
c.715C>T (p.Pro239Ser)
n.869C>T
c.889C>T (p.Pro297Ser)
7g.42040174G>CCA367329697GLI3c.892C>G (p.Pro298Ala)
c.715C>G (p.Pro239Ala)
n.869C>G
c.889C>G (p.Pro297Ala)
7g.42040174G>TCA367329698GLI3c.892C>A (p.Pro298Thr)
c.715C>A (p.Pro239Thr)
n.869C>A
c.889C>A (p.Pro297Thr)
7g.42040175T>ACA454533683GLI3c.891A>T (p.Ser297=)
c.714A>T (p.Ser238=)
n.868A>T
c.888A>T (p.Ser296=)
7g.42040175T>CCA454533684GLI3c.891A>G (p.Ser297=)
c.714A>G (p.Ser238=)
n.868A>G
c.888A>G (p.Ser296=)
gnomAD v4
7g.42040175T>GCA454533686GLI3c.891A>C (p.Ser297=)
c.714A>C (p.Ser238=)
n.868A>C
c.888A>C (p.Ser296=)
7g.42040176G>ACA367329699GLI3c.890C>T (p.Ser297Leu)
c.713C>T (p.Ser238Leu)
n.867C>T
c.887C>T (p.Ser296Leu)
7g.42040176G>CCA367329700GLI3c.890C>G (p.Ser297Ter)
c.713C>G (p.Ser238Ter)
n.867C>G
c.887C>G (p.Ser296Ter)
7g.42040176G>TCA367329701GLI3c.890C>A (p.Ser297Ter)
c.713C>A (p.Ser238Ter)
n.867C>A
c.887C>A (p.Ser296Ter)
7g.42040177A=CA1702691301GLI3c.889T= (p.Ser297=)
c.712T= (p.Ser238=)
n.866T=
c.886T= (p.Ser296=)
7g.42040177A>CCA367329702GLI3c.889T>G (p.Ser297Ala)
c.712T>G (p.Ser238Ala)
n.866T>G
c.886T>G (p.Ser296Ala)
7g.42040177A>GCA367329703GLI3c.889T>C (p.Ser297Pro)
c.712T>C (p.Ser238Pro)
n.866T>C
c.886T>C (p.Ser296Pro)
7g.42040177A>TCA367329704GLI3c.889T>A (p.Ser297Thr)
c.712T>A (p.Ser238Thr)
n.866T>A
c.886T>A (p.Ser296Thr)
dbSNP gnomAD v4
7g.42040178T>ACA454533694GLI3c.888A>T (p.Ile296=)
c.711A>T (p.Ile237=)
n.865A>T
c.885A>T (p.Ile295=)
7g.42040178T>CCA367329705GLI3c.888A>G (p.Ile296Met)
c.711A>G (p.Ile237Met)
n.865A>G
c.885A>G (p.Ile295Met)
gnomAD v4
7g.42040178T>GCA454533697GLI3c.888A>C (p.Ile296=)
c.711A>C (p.Ile237=)
n.865A>C
c.885A>C (p.Ile295=)
7g.42040179A>CCA367329706GLI3c.887T>G (p.Ile296Arg)
c.710T>G (p.Ile237Arg)
n.864T>G
c.884T>G (p.Ile295Arg)
7g.42040179A>GCA367329707GLI3c.887T>C (p.Ile296Thr)
c.710T>C (p.Ile237Thr)
n.864T>C
c.884T>C (p.Ile295Thr)
7g.42040179A>TCA367329708GLI3c.887T>A (p.Ile296Lys)
c.710T>A (p.Ile237Lys)
n.864T>A
c.884T>A (p.Ile295Lys)
7g.42040180T>ACA367329709GLI3c.886A>T (p.Ile296Leu)
c.709A>T (p.Ile237Leu)
n.863A>T
c.883A>T (p.Ile295Leu)
7g.42040180T>CCA367329710GLI3c.886A>G (p.Ile296Val)
c.709A>G (p.Ile237Val)
n.863A>G
c.883A>G (p.Ile295Val)
dbSNP gnomAD v4
7g.42040180T>GCA4231026GLI3c.886A>C (p.Ile296Leu)
c.709A>C (p.Ile237Leu)
n.863A>C
c.883A>C (p.Ile295Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.42040180T=CA1702691309GLI3c.886A= (p.Ile296=)
c.709A= (p.Ile237=)
n.863A=
c.883A= (p.Ile295=)
7g.42040180_42040181delinsTGCA1702691312GLI3c.885_886delinsCA (p.Ser295=)
c.708_709delinsCA (p.Ser236=)
n.862_863delinsCA
c.882_883delinsCA (p.Ser294=)
7g.42040181G>ACA454533705GLI3c.885C>T (p.Ser295=)
c.708C>T (p.Ser236=)
n.862C>T
c.882C>T (p.Ser294=)
gnomAD v4
7g.42040181G>CCA454533707GLI3c.885C>G (p.Ser295=)
c.708C>G (p.Ser236=)
n.862C>G
c.882C>G (p.Ser294=)
7g.42040181G>TCA454533709GLI3c.885C>A (p.Ser295=)
c.708C>A (p.Ser236=)
n.862C>A
c.882C>A (p.Ser294=)
7g.42040182delCA916082926GLI3c.885del (p.Ile296TyrfsTer14)
c.708del (p.Ile237TyrfsTer14)
n.862del
c.882del (p.Ile295TyrfsTer14)
ClinVar dbSNP
7g.42040182G>ACA367329711GLI3c.884C>T (p.Ser295Phe)
c.707C>T (p.Ser236Phe)
n.861C>T
c.881C>T (p.Ser294Phe)
7g.42040182G>CCA367329713GLI3c.884C>G (p.Ser295Cys)
c.707C>G (p.Ser236Cys)
n.861C>G
c.881C>G (p.Ser294Cys)
7g.42040182G>TCA367329712GLI3c.884C>A (p.Ser295Tyr)
c.707C>A (p.Ser236Tyr)
n.861C>A
c.881C>A (p.Ser294Tyr)
7g.42040183A=CA1702691323GLI3c.883T= (p.Ser295=)
c.706T= (p.Ser236=)
n.860T=
c.880T= (p.Ser294=)
7g.42040183A>CCA367329714GLI3c.883T>G (p.Ser295Ala)
c.706T>G (p.Ser236Ala)
n.860T>G
c.880T>G (p.Ser294Ala)
7g.42040183A>GCA4231027GLI3c.883T>C (p.Ser295Pro)
c.706T>C (p.Ser236Pro)
n.860T>C
c.880T>C (p.Ser294Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.42040183A>TCA367329715GLI3c.883T>A (p.Ser295Thr)
c.706T>A (p.Ser236Thr)
n.860T>A
c.880T>A (p.Ser294Thr)
7g.42040184C>ACA454533720GLI3c.882G>T (p.Leu294=)
c.705G>T (p.Leu235=)
n.859G>T
c.879G>T (p.Leu293=)
COSMIC
7g.42040184C>GCA454533722GLI3c.882G>C (p.Leu294=)
c.705G>C (p.Leu235=)
n.859G>C
c.879G>C (p.Leu293=)
gnomAD v4
7g.42040184C>TCA454533717GLI3c.882G>A (p.Leu294=)
c.705G>A (p.Leu235=)
n.859G>A
c.879G>A (p.Leu293=)
7g.42040184_42040189delinsCAGTGTCA1702691326GLI3c.877_882delinsACACTG (p.Thr293=)
c.700_705delinsACACTG (p.Thr234=)
n.854_859delinsACACTG
c.874_879delinsACACTG (p.Thr292=)
7g.42040185A>CCA367329716GLI3c.881T>G (p.Leu294Arg)
c.704T>G (p.Leu235Arg)
n.858T>G
c.878T>G (p.Leu293Arg)
7g.42040185A>GCA367329717GLI3c.881T>C (p.Leu294Pro)
c.704T>C (p.Leu235Pro)
n.858T>C
c.878T>C (p.Leu293Pro)
7g.42040185A>TCA367329718GLI3c.881T>A (p.Leu294Gln)
c.704T>A (p.Leu235Gln)
n.858T>A
c.878T>A (p.Leu293Gln)
7g.42040186_42040190delCA916082927GLI3c.877_881del (p.Thr293ValfsTer9)
c.700_704del (p.Thr234ValfsTer9)
n.854_858del
c.874_878del (p.Thr292ValfsTer9)
ClinVar dbSNP
7g.42040186G>ACA454533727GLI3c.880C>T (p.Leu294=)
c.703C>T (p.Leu235=)
n.857C>T
c.877C>T (p.Leu293=)
dbSNP
7g.42040186G>CCA367329719GLI3c.880C>G (p.Leu294Val)
c.703C>G (p.Leu235Val)
n.857C>G
c.877C>G (p.Leu293Val)
7g.42040186G=CA1702691334GLI3c.880C= (p.Leu294=)
c.703C= (p.Leu235=)
n.857C=
c.877C= (p.Leu293=)
7g.42040186G>TCA367329720GLI3c.880C>A (p.Leu294Met)
c.703C>A (p.Leu235Met)
n.857C>A
c.877C>A (p.Leu293Met)
7g.42040187T>ACA454533734GLI3c.879A>T (p.Thr293=)
c.702A>T (p.Thr234=)
n.856A>T
c.876A>T (p.Thr292=)
7g.42040187T>CCA454533730GLI3c.879A>G (p.Thr293=)
c.702A>G (p.Thr234=)
n.856A>G
c.876A>G (p.Thr292=)
gnomAD v4
7g.42040187T>GCA454533732GLI3c.879A>C (p.Thr293=)
c.702A>C (p.Thr234=)
n.856A>C
c.876A>C (p.Thr292=)
7g.42040188G>ACA367329721GLI3c.878C>T (p.Thr293Ile)
c.701C>T (p.Thr234Ile)
n.855C>T
c.875C>T (p.Thr292Ile)
7g.42040188G>CCA367329722GLI3c.878C>G (p.Thr293Arg)
c.701C>G (p.Thr234Arg)
n.855C>G
c.875C>G (p.Thr292Arg)
7g.42040188G>TCA367329723GLI3c.878C>A (p.Thr293Lys)
c.701C>A (p.Thr234Lys)
n.855C>A
c.875C>A (p.Thr292Lys)
7g.42040189T>ACA367329726GLI3c.877A>T (p.Thr293Ser)
c.700A>T (p.Thr234Ser)
n.854A>T
c.874A>T (p.Thr292Ser)
7g.42040189T>CCA367329724GLI3c.877A>G (p.Thr293Ala)
c.700A>G (p.Thr234Ala)
n.854A>G
c.874A>G (p.Thr292Ala)
gnomAD v4
7g.42040189T>GCA367329725GLI3c.877A>C (p.Thr293Pro)
c.700A>C (p.Thr234Pro)
n.854A>C
c.874A>C (p.Thr292Pro)
7g.42040190A=CA1702691337GLI3c.876T= (p.Arg292=)
c.699T= (p.Arg233=)
n.853T=
c.873T= (p.Arg291=)
7g.42040190A>CCA454533736GLI3c.876T>G (p.Arg292=)
c.699T>G (p.Arg233=)
n.853T>G
c.873T>G (p.Arg291=)
7g.42040190A>GCA454533738GLI3c.876T>C (p.Arg292=)
c.699T>C (p.Arg233=)
n.853T>C
c.873T>C (p.Arg291=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.42040190A>TCA454533737GLI3c.876T>A (p.Arg292=)
c.699T>A (p.Arg233=)
n.853T>A
c.873T>A (p.Arg291=)
dbSNP gnomAD v2 gnomAD v4
7g.42040191C>ACA367329727GLI3c.875G>T (p.Arg292Leu)
c.698G>T (p.Arg233Leu)
n.852G>T
c.872G>T (p.Arg291Leu)
7g.42040191C=CA1702691344GLI3c.875G= (p.Arg292=)
c.698G= (p.Arg233=)
n.852G=
c.872G= (p.Arg291=)
7g.42040191C>GCA367329728GLI3c.875G>C (p.Arg292Pro)
c.698G>C (p.Arg233Pro)
n.852G>C
c.872G>C (p.Arg291Pro)
7g.42040191C>TCA4231028GLI3c.875G>A (p.Arg292His)
c.698G>A (p.Arg233His)
n.852G>A
c.872G>A (p.Arg291His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040192G>ACA367329729GLI3c.874C>T (p.Arg292Cys)
c.697C>T (p.Arg233Cys)
n.851C>T
c.871C>T (p.Arg291Cys)
dbSNP gnomAD v4
7g.42040192G>CCA367329730GLI3c.874C>G (p.Arg292Gly)
c.697C>G (p.Arg233Gly)
n.851C>G
c.871C>G (p.Arg291Gly)
7g.42040192G=CA1702691349GLI3c.874C= (p.Arg292=)
c.697C= (p.Arg233=)
n.851C=
c.871C= (p.Arg291=)
7g.42040192G>TCA367329731GLI3c.874C>A (p.Arg292Ser)
c.697C>A (p.Arg233Ser)
n.851C>A
c.871C>A (p.Arg291Ser)
7g.42040193T>ACA367329732GLI3c.873A>T (p.Lys291Asn)
c.696A>T (p.Lys232Asn)
n.850A>T
c.870A>T (p.Lys290Asn)
7g.42040193T>CCA454533746GLI3c.873A>G (p.Lys291=)
c.696A>G (p.Lys232=)
n.850A>G
c.870A>G (p.Lys290=)
dbSNP
7g.42040193T>GCA367329733GLI3c.873A>C (p.Lys291Asn)
c.696A>C (p.Lys232Asn)
n.850A>C
c.870A>C (p.Lys290Asn)
7g.42040196delCA2682511709GLI3c.873del (p.Lys291AsnfsTer19)
c.696del (p.Lys232AsnfsTer19)
n.850del
c.870del (p.Lys290AsnfsTer19)
gnomAD v4
7g.42040194T>ACA367329734GLI3c.872A>T (p.Lys291Ile)
c.695A>T (p.Lys232Ile)
n.849A>T
c.869A>T (p.Lys290Ile)
7g.42040194T>CCA367329735GLI3c.872A>G (p.Lys291Arg)
c.695A>G (p.Lys232Arg)
n.849A>G
c.869A>G (p.Lys290Arg)
7g.42040194T>GCA367329736GLI3c.872A>C (p.Lys291Thr)
c.695A>C (p.Lys232Thr)
n.849A>C
c.869A>C (p.Lys290Thr)
7g.42040195T>ACA367329738GLI3c.871A>T (p.Lys291Ter)
c.694A>T (p.Lys232Ter)
n.848A>T
c.868A>T (p.Lys290Ter)
7g.42040195T>CCA367329739GLI3c.871A>G (p.Lys291Glu)
c.694A>G (p.Lys232Glu)
n.848A>G
c.868A>G (p.Lys290Glu)
7g.42040195T>GCA367329737GLI3c.871A>C (p.Lys291Gln)
c.694A>C (p.Lys232Gln)
n.848A>C
c.868A>C (p.Lys290Gln)
7g.42040196T>ACA454533766GLI3c.870A>T (p.Arg290=)
c.693A>T (p.Arg231=)
n.847A>T
c.867A>T (p.Arg289=)
7g.42040196T>CCA454533767GLI3c.870A>G (p.Arg290=)
c.693A>G (p.Arg231=)
n.847A>G
c.867A>G (p.Arg289=)
dbSNP gnomAD v3 gnomAD v4
7g.42040196T>GCA454533769GLI3c.870A>C (p.Arg290=)
c.693A>C (p.Arg231=)
n.847A>C
c.867A>C (p.Arg289=)
7g.42040196T=CA1702691353GLI3c.870A= (p.Arg290=)
c.693A= (p.Arg231=)
n.847A=
c.867A= (p.Arg289=)
7g.42040197C>ACA367329740GLI3c.869G>T (p.Arg290Leu)
c.692G>T (p.Arg231Leu)
n.846G>T
c.866G>T (p.Arg289Leu)
dbSNP gnomAD v2 gnomAD v4
7g.42040197C=CA1702691356GLI3c.869G= (p.Arg290=)
c.692G= (p.Arg231=)
n.846G=
c.866G= (p.Arg289=)
7g.42040197C>GCA367329741GLI3c.869G>C (p.Arg290Pro)
c.692G>C (p.Arg231Pro)
n.846G>C
c.866G>C (p.Arg289Pro)
7g.42040197C>TCA4231029GLI3c.869G>A (p.Arg290Gln)
c.692G>A (p.Arg231Gln)
n.846G>A
c.866G>A (p.Arg289Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040198G>ACA123498GLI3c.868C>T (p.Arg290Ter)
c.691C>T (p.Arg231Ter)
n.845C>T
c.865C>T (p.Arg289Ter)
ClinVar dbSNP gnomAD v4
7g.42040198G>CCA367329742GLI3c.868C>G (p.Arg290Gly)
c.691C>G (p.Arg231Gly)
n.845C>G
c.865C>G (p.Arg289Gly)
7g.42040198G=CA1702691364GLI3c.868C= (p.Arg290=)
c.691C= (p.Arg231=)
n.845C=
c.865C= (p.Arg289=)
7g.42040198G>TCA454533780GLI3c.868C>A (p.Arg290=)
c.691C>A (p.Arg231=)
n.845C>A
c.865C>A (p.Arg289=)
COSMIC
7g.42040199G>ACA454533782GLI3c.867C>T (p.Ser289=)
c.690C>T (p.Ser230=)
n.844C>T
c.864C>T (p.Ser288=)
7g.42040199G>CCA367329743GLI3c.867C>G (p.Ser289Arg)
c.690C>G (p.Ser230Arg)
n.844C>G
c.864C>G (p.Ser288Arg)
dbSNP gnomAD v3 gnomAD v4
7g.42040199G=CA1702691367GLI3c.867C= (p.Ser289=)
c.690C= (p.Ser230=)
n.844C=
c.864C= (p.Ser288=)
7g.42040199G>TCA367329744GLI3c.867C>A (p.Ser289Arg)
c.690C>A (p.Ser230Arg)
n.844C>A
c.864C>A (p.Ser288Arg)
7g.42040200C>ACA367329745GLI3c.866G>T (p.Ser289Ile)
c.689G>T (p.Ser230Ile)
n.843G>T
c.863G>T (p.Ser288Ile)
7g.42040200C>GCA367329746GLI3c.866G>C (p.Ser289Thr)
c.689G>C (p.Ser230Thr)
n.843G>C
c.863G>C (p.Ser288Thr)
7g.42040200C>TCA367329747GLI3c.866G>A (p.Ser289Asn)
c.689G>A (p.Ser230Asn)
n.843G>A
c.863G>A (p.Ser288Asn)
gnomAD v4
7g.42040201T>ACA367329748GLI3c.865A>T (p.Ser289Cys)
c.688A>T (p.Ser230Cys)
n.842A>T
c.862A>T (p.Ser288Cys)
7g.42040201T>CCA367329749GLI3c.865A>G (p.Ser289Gly)
c.688A>G (p.Ser230Gly)
n.842A>G
c.862A>G (p.Ser288Gly)
7g.42040201T>GCA367329750GLI3c.865A>C (p.Ser289Arg)
c.688A>C (p.Ser230Arg)
n.842A>C
c.862A>C (p.Ser288Arg)
7g.42040202C>ACA4231031GLI3c.864G>T (p.Pro288=)
c.687G>T (p.Pro229=)
n.841G>T
c.861G>T (p.Pro287=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040202C=CA1702691381GLI3c.864G= (p.Pro288=)
c.687G= (p.Pro229=)
n.841G=
c.861G= (p.Pro287=)
7g.42040202C>GCA454533794GLI3c.864G>C (p.Pro288=)
c.687G>C (p.Pro229=)
n.841G>C
c.861G>C (p.Pro287=)
dbSNP
7g.42040202C>TCA4231030GLI3c.864G>A (p.Pro288=)
c.687G>A (p.Pro229=)
n.841G>A
c.861G>A (p.Pro287=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040203G>ACA4231032GLI3c.863C>T (p.Pro288Leu)
c.686C>T (p.Pro229Leu)
n.840C>T
c.860C>T (p.Pro287Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040203G>CCA367329751GLI3c.863C>G (p.Pro288Arg)
c.686C>G (p.Pro229Arg)
n.840C>G
c.860C>G (p.Pro287Arg)
gnomAD v4
7g.42040203G=CA1702691384GLI3c.863C= (p.Pro288=)
c.686C= (p.Pro229=)
n.840C=
c.860C= (p.Pro287=)
7g.42040203G>TCA367329752GLI3c.863C>A (p.Pro288Gln)
c.686C>A (p.Pro229Gln)
n.840C>A
c.860C>A (p.Pro287Gln)
7g.42040204G>ACA367329753GLI3c.862C>T (p.Pro288Ser)
c.685C>T (p.Pro229Ser)
n.839C>T
c.859C>T (p.Pro287Ser)
gnomAD v4
7g.42040204G>CCA367329754GLI3c.862C>G (p.Pro288Ala)
c.685C>G (p.Pro229Ala)
n.839C>G
c.859C>G (p.Pro287Ala)
7g.42040204G>TCA367329755GLI3c.862C>A (p.Pro288Thr)
c.685C>A (p.Pro229Thr)
n.839C>A
c.859C>A (p.Pro287Thr)
gnomAD v4
7g.42040205C>ACA4231033GLI3c.861G>T (p.Arg287Ser)
c.684G>T (p.Arg228Ser)
n.838G>T
c.858G>T (p.Arg286Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42040205C=CA1702691394GLI3c.861G= (p.Arg287=)
c.684G= (p.Arg228=)
n.838G=
c.858G= (p.Arg286=)
7g.42040205C>GCA367329756GLI3c.861G>C (p.Arg287Ser)
c.684G>C (p.Arg228Ser)
n.838G>C
c.858G>C (p.Arg286Ser)
7g.42040205C>TCA454533805GLI3c.861G>A (p.Arg287=)
c.684G>A (p.Arg228=)
n.838G>A
c.858G>A (p.Arg286=)

Number of alleles fetched