Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.42048595G>ACA4231141GLI3c.575C>T (p.Pro192Leu)
c.398C>T (p.Pro133Leu)
n.552C>T
c.572C>T (p.Pro191Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42048595G>CCA367333244GLI3c.575C>G (p.Pro192Arg)
c.398C>G (p.Pro133Arg)
n.552C>G
c.572C>G (p.Pro191Arg)
7g.42048595G=CA1702698954GLI3c.575C= (p.Pro192=)
c.398C= (p.Pro133=)
n.552C=
c.572C= (p.Pro191=)
7g.42048595G>TCA367333246GLI3c.575C>A (p.Pro192His)
c.398C>A (p.Pro133His)
n.552C>A
c.572C>A (p.Pro191His)
 COSMIC
7g.42048596G>ACA367333252GLI3c.574C>T (p.Pro192Ser)
c.397C>T (p.Pro133Ser)
n.551C>T
c.571C>T (p.Pro191Ser)
7g.42048596G>CCA367333250GLI3c.574C>G (p.Pro192Ala)
c.397C>G (p.Pro133Ala)
n.551C>G
c.571C>G (p.Pro191Ala)
7g.42048596G>TCA367333248GLI3c.574C>A (p.Pro192Thr)
c.397C>A (p.Pro133Thr)
n.551C>A
c.571C>A (p.Pro191Thr)
7g.42048597G>ACA454537619GLI3c.573C>T (p.Ser191=)
c.396C>T (p.Ser132=)
n.550C>T
c.570C>T (p.Ser190=)
 dbSNP gnomAD v4
7g.42048597G>CCA367333254GLI3c.573C>G (p.Ser191Arg)
c.396C>G (p.Ser132Arg)
n.550C>G
c.570C>G (p.Ser190Arg)
7g.42048597G=CA1702698957GLI3c.573C= (p.Ser191=)
c.396C= (p.Ser132=)
n.550C=
c.570C= (p.Ser190=)
7g.42048597G>TCA367333256GLI3c.573C>A (p.Ser191Arg)
c.396C>A (p.Ser132Arg)
n.550C>A
c.570C>A (p.Ser190Arg)
7g.42048598C>ACA367333259GLI3c.572G>T (p.Ser191Ile)
c.395G>T (p.Ser132Ile)
n.549G>T
c.569G>T (p.Ser190Ile)
 gnomAD v4
7g.42048598C>GCA367333263GLI3c.572G>C (p.Ser191Thr)
c.395G>C (p.Ser132Thr)
n.549G>C
c.569G>C (p.Ser190Thr)
7g.42048598C>TCA367333261GLI3c.572G>A (p.Ser191Asn)
c.395G>A (p.Ser132Asn)
n.549G>A
c.569G>A (p.Ser190Asn)
 COSMIC
7g.42048599T>ACA367333266GLI3c.571A>T (p.Ser191Cys)
c.394A>T (p.Ser132Cys)
n.548A>T
c.568A>T (p.Ser190Cys)
7g.42048599T>CCA367333268GLI3c.571A>G (p.Ser191Gly)
c.394A>G (p.Ser132Gly)
n.548A>G
c.568A>G (p.Ser190Gly)
 gnomAD v4
7g.42048599T>GCA367333269GLI3c.571A>C (p.Ser191Arg)
c.394A>C (p.Ser132Arg)
n.548A>C
c.568A>C (p.Ser190Arg)
7g.42048600G>ACA454537620GLI3c.570C>T (p.Phe190=)
c.393C>T (p.Phe131=)
n.547C>T
c.567C>T (p.Phe189=)
7g.42048600G>CCA367333272GLI3c.570C>G (p.Phe190Leu)
c.393C>G (p.Phe131Leu)
n.547C>G
c.567C>G (p.Phe189Leu)
7g.42048600G>TCA367333274GLI3c.570C>A (p.Phe190Leu)
c.393C>A (p.Phe131Leu)
n.547C>A
c.567C>A (p.Phe189Leu)
7g.42048601A=CA1702698959GLI3c.569T= (p.Phe190=)
c.392T= (p.Phe131=)
n.546T=
c.566T= (p.Phe189=)
7g.42048601A>CCA367333276GLI3c.569T>G (p.Phe190Cys)
c.392T>G (p.Phe131Cys)
n.546T>G
c.566T>G (p.Phe189Cys)
 dbSNP gnomAD v4
7g.42048601A>GCA367333278GLI3c.569T>C (p.Phe190Ser)
c.392T>C (p.Phe131Ser)
n.546T>C
c.566T>C (p.Phe189Ser)
7g.42048601A>TCA367333279GLI3c.569T>A (p.Phe190Tyr)
c.392T>A (p.Phe131Tyr)
n.546T>A
c.566T>A (p.Phe189Tyr)
7g.42048602A>CCA367333280GLI3c.568T>G (p.Phe190Val)
c.391T>G (p.Phe131Val)
n.545T>G
c.565T>G (p.Phe189Val)
7g.42048602A>GCA367333284GLI3c.568T>C (p.Phe190Leu)
c.391T>C (p.Phe131Leu)
n.545T>C
c.565T>C (p.Phe189Leu)
 gnomAD v4
7g.42048602A>TCA367333282GLI3c.568T>A (p.Phe190Ile)
c.391T>A (p.Phe131Ile)
n.545T>A
c.565T>A (p.Phe189Ile)
7g.42048603G>ACA4231142GLI3c.567C>T (p.Pro189=)
c.390C>T (p.Pro130=)
n.544C>T
c.564C>T (p.Pro188=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42048603G>CCA454537622GLI3c.567C>G (p.Pro189=)
c.390C>G (p.Pro130=)
n.544C>G
c.564C>G (p.Pro188=)
7g.42048603G=CA1702698961GLI3c.567C= (p.Pro189=)
c.390C= (p.Pro130=)
n.544C=
c.564C= (p.Pro188=)
7g.42048603G>TCA454537621GLI3c.567C>A (p.Pro189=)
c.390C>A (p.Pro130=)
n.544C>A
c.564C>A (p.Pro188=)
7g.42048603_42048605delinsAGACA2695207677GLI3c.565_567delinsTCT (p.Pro189Ser)
c.388_390delinsTCT (p.Pro130Ser)
n.542_544delinsTCT
c.562_564delinsTCT (p.Pro188Ser)
7g.42048604G>ACA4231143GLI3c.566C>T (p.Pro189Leu)
c.389C>T (p.Pro130Leu)
n.543C>T
c.563C>T (p.Pro188Leu)
 dbSNP ExAC gnomAD v2
7g.42048604G>CCA367333289GLI3c.566C>G (p.Pro189Arg)
c.389C>G (p.Pro130Arg)
n.543C>G
c.563C>G (p.Pro188Arg)
7g.42048604G=CA1702698965GLI3c.566C= (p.Pro189=)
c.389C= (p.Pro130=)
n.543C=
c.563C= (p.Pro188=)
7g.42048604G>TCA367333291GLI3c.566C>A (p.Pro189His)
c.389C>A (p.Pro130His)
n.543C>A
c.563C>A (p.Pro188His)
7g.42048605G>ACA4231144GLI3c.565C>T (p.Pro189Ser)
c.388C>T (p.Pro130Ser)
n.542C>T
c.562C>T (p.Pro188Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42048605G>CCA367333298GLI3c.565C>G (p.Pro189Ala)
c.388C>G (p.Pro130Ala)
n.542C>G
c.562C>G (p.Pro188Ala)
7g.42048605G=CA1702698971GLI3c.565C= (p.Pro189=)
c.388C= (p.Pro130=)
n.542C=
c.562C= (p.Pro188=)
7g.42048605G>TCA367333295GLI3c.565C>A (p.Pro189Thr)
c.388C>A (p.Pro130Thr)
n.542C>A
c.562C>A (p.Pro188Thr)
7g.42048606A>CCA454537623GLI3c.564T>G (p.Ser188=)
c.387T>G (p.Ser129=)
n.541T>G
c.561T>G (p.Ser187=)
7g.42048606A>GCA454537624GLI3c.564T>C (p.Ser188=)
c.387T>C (p.Ser129=)
n.541T>C
c.561T>C (p.Ser187=)
7g.42048606A>TCA454537625GLI3c.564T>A (p.Ser188=)
c.387T>A (p.Ser129=)
n.541T>A
c.561T>A (p.Ser187=)
7g.42048607G>ACA4231146GLI3c.563C>T (p.Ser188Phe)
c.386C>T (p.Ser129Phe)
n.540C>T
c.560C>T (p.Ser187Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.42048607G>CCA367333301GLI3c.563C>G (p.Ser188Cys)
c.386C>G (p.Ser129Cys)
n.540C>G
c.560C>G (p.Ser187Cys)
7g.42048607G=CA1702698980GLI3c.563C= (p.Ser188=)
c.386C= (p.Ser129=)
n.540C=
c.560C= (p.Ser187=)
7g.42048607G>TCA4231145GLI3c.563C>A (p.Ser188Tyr)
c.386C>A (p.Ser129Tyr)
n.540C>A
c.560C>A (p.Ser187Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42048608A=CA1702698990GLI3c.562T= (p.Ser188=)
c.385T= (p.Ser129=)
n.539T=
c.559T= (p.Ser187=)
7g.42048608A>CCA367333305GLI3c.562T>G (p.Ser188Ala)
c.385T>G (p.Ser129Ala)
n.539T>G
c.559T>G (p.Ser187Ala)
 dbSNP
7g.42048608A>GCA367333306GLI3c.562T>C (p.Ser188Pro)
c.385T>C (p.Ser129Pro)
n.539T>C
c.559T>C (p.Ser187Pro)
 gnomAD v4
7g.42048608A>TCA367333309GLI3c.562T>A (p.Ser188Thr)
c.385T>A (p.Ser129Thr)
n.539T>A
c.559T>A (p.Ser187Thr)
7g.42048609C>ACA367333311GLI3c.561G>T (p.Glu187Asp)
c.384G>T (p.Glu128Asp)
n.538G>T
c.558G>T (p.Glu186Asp)
7g.42048609C>GCA367333313GLI3c.561G>C (p.Glu187Asp)
c.384G>C (p.Glu128Asp)
n.538G>C
c.558G>C (p.Glu186Asp)
7g.42048609C>TCA454537626GLI3c.561G>A (p.Glu187=)
c.384G>A (p.Glu128=)
n.538G>A
c.558G>A (p.Glu186=)
7g.42048610T>ACA367333316GLI3c.560A>T (p.Glu187Val)
c.383A>T (p.Glu128Val)
n.537A>T
c.557A>T (p.Glu186Val)
7g.42048610T>CCA367333317GLI3c.560A>G (p.Glu187Gly)
c.383A>G (p.Glu128Gly)
n.537A>G
c.557A>G (p.Glu186Gly)
7g.42048610T>GCA367333319GLI3c.560A>C (p.Glu187Ala)
c.383A>C (p.Glu128Ala)
n.537A>C
c.557A>C (p.Glu186Ala)
7g.42048611C>ACA367333321GLI3c.559G>T (p.Glu187Ter)
c.382G>T (p.Glu128Ter)
n.536G>T
c.556G>T (p.Glu186Ter)
7g.42048611C=CA1702698992GLI3c.559G= (p.Glu187=)
c.382G= (p.Glu128=)
n.536G=
c.556G= (p.Glu186=)
7g.42048611C>GCA367333325GLI3c.559G>C (p.Glu187Gln)
c.382G>C (p.Glu128Gln)
n.536G>C
c.556G>C (p.Glu186Gln)
7g.42048611C>TCA367333323GLI3c.559G>A (p.Glu187Lys)
c.382G>A (p.Glu128Lys)
n.536G>A
c.556G>A (p.Glu186Lys)
 dbSNP gnomAD v4
7g.42048612G>ACA4231147GLI3c.558C>T (p.Ser186=)
c.381C>T (p.Ser127=)
n.535C>T
c.555C>T (p.Ser185=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42048612G>CCA454537627GLI3c.558C>G (p.Ser186=)
c.381C>G (p.Ser127=)
n.535C>G
c.555C>G (p.Ser185=)
7g.42048612G=CA1702698996GLI3c.558C= (p.Ser186=)
c.381C= (p.Ser127=)
n.535C=
c.555C= (p.Ser185=)
7g.42048612G>TCA454537628GLI3c.558C>A (p.Ser186=)
c.381C>A (p.Ser127=)
n.535C>A
c.555C>A (p.Ser185=)
7g.42048613delCA2740097353GLI3c.558del (p.Glu187SerfsTer29)
c.381del (p.Glu128SerfsTer29)
n.535del
c.555del (p.Glu186SerfsTer29)
 ClinVar
7g.42048613G>ACA367333330GLI3c.557C>T (p.Ser186Phe)
c.380C>T (p.Ser127Phe)
n.534C>T
c.554C>T (p.Ser185Phe)
 dbSNP
7g.42048613G>CCA367333331GLI3c.557C>G (p.Ser186Cys)
c.380C>G (p.Ser127Cys)
n.534C>G
c.554C>G (p.Ser185Cys)
 gnomAD v4
7g.42048613G=CA1702698999GLI3c.557C= (p.Ser186=)
c.380C= (p.Ser127=)
n.534C=
c.554C= (p.Ser185=)
7g.42048613G>TCA367333333GLI3c.557C>A (p.Ser186Tyr)
c.380C>A (p.Ser127Tyr)
n.534C>A
c.554C>A (p.Ser185Tyr)
 dbSNP gnomAD v3 gnomAD v4
7g.42048614A>CCA367333335GLI3c.556T>G (p.Ser186Ala)
c.379T>G (p.Ser127Ala)
n.533T>G
c.553T>G (p.Ser185Ala)
7g.42048614A>GCA367333338GLI3c.556T>C (p.Ser186Pro)
c.379T>C (p.Ser127Pro)
n.533T>C
c.553T>C (p.Ser185Pro)
7g.42048614A>TCA367333339GLI3c.556T>A (p.Ser186Thr)
c.379T>A (p.Ser127Thr)
n.533T>A
c.553T>A (p.Ser185Thr)
7g.42048615A>CCA454537629GLI3c.555T>G (p.Ala185=)
c.378T>G (p.Ala126=)
n.532T>G
c.552T>G (p.Ala184=)
7g.42048615A>GCA454537630GLI3c.555T>C (p.Ala185=)
c.378T>C (p.Ala126=)
n.532T>C
c.552T>C (p.Ala184=)
7g.42048615A>TCA454537631GLI3c.555T>A (p.Ala185=)
c.378T>A (p.Ala126=)
n.532T>A
c.552T>A (p.Ala184=)
7g.42048615_42048616insCCCCCA2682512070GLI3c.554_555insGGGG (p.Ser186GlyfsTer14)
c.377_378insGGGG (p.Ser127GlyfsTer14)
n.531_532insGGGG
c.551_552insGGGG (p.Ser185GlyfsTer14)
 gnomAD v4
7g.42048616G>ACA367333342GLI3c.554C>T (p.Ala185Val)
c.377C>T (p.Ala126Val)
n.531C>T
c.551C>T (p.Ala184Val)
7g.42048616G>CCA367333344GLI3c.554C>G (p.Ala185Gly)
c.377C>G (p.Ala126Gly)
n.531C>G
c.551C>G (p.Ala184Gly)
7g.42048616G>TCA367333345GLI3c.554C>A (p.Ala185Asp)
c.377C>A (p.Ala126Asp)
n.531C>A
c.551C>A (p.Ala184Asp)
 COSMIC
7g.42048617C>ACA367333348GLI3c.553G>T (p.Ala185Ser)
c.376G>T (p.Ala126Ser)
n.530G>T
c.550G>T (p.Ala184Ser)
 COSMIC
7g.42048617C>GCA367333350GLI3c.553G>C (p.Ala185Pro)
c.376G>C (p.Ala126Pro)
n.530G>C
c.550G>C (p.Ala184Pro)
7g.42048617C>TCA367333352GLI3c.553G>A (p.Ala185Thr)
c.376G>A (p.Ala126Thr)
n.530G>A
c.550G>A (p.Ala184Thr)
7g.42048617_42048618insTGCTGCTTCCGCA2682512071GLI3c.552_553insCGGAAGCAGCA (p.Ala185ArgfsTer?)
c.375_376insCGGAAGCAGCA (p.Ala126ArgfsTer?)
n.529_530insCGGAAGCAGCA
c.549_550insCGGAAGCAGCA (p.Ala184ArgfsTer?)
 gnomAD v4
7g.42048618A>CCA454537632GLI3c.552T>G (p.Ala184=)
c.375T>G (p.Ala125=)
n.529T>G
c.549T>G (p.Ala183=)
7g.42048618A>GCA454537633GLI3c.552T>C (p.Ala184=)
c.375T>C (p.Ala125=)
n.529T>C
c.549T>C (p.Ala183=)
7g.42048618A>TCA454537634GLI3c.552T>A (p.Ala184=)
c.375T>A (p.Ala125=)
n.529T>A
c.549T>A (p.Ala183=)
7g.42048619G>ACA367333354GLI3c.551C>T (p.Ala184Val)
c.374C>T (p.Ala125Val)
n.528C>T
c.548C>T (p.Ala183Val)
7g.42048619G>CCA367333359GLI3c.551C>G (p.Ala184Gly)
c.374C>G (p.Ala125Gly)
n.528C>G
c.548C>G (p.Ala183Gly)
7g.42048619G>TCA367333357GLI3c.551C>A (p.Ala184Asp)
c.374C>A (p.Ala125Asp)
n.528C>A
c.548C>A (p.Ala183Asp)
 gnomAD v4
7g.42048620C>ACA367333361GLI3c.550G>T (p.Ala184Ser)
c.373G>T (p.Ala125Ser)
n.527G>T
c.547G>T (p.Ala183Ser)
7g.42048620C>GCA367333363GLI3c.550G>C (p.Ala184Pro)
c.373G>C (p.Ala125Pro)
n.527G>C
c.547G>C (p.Ala183Pro)
7g.42048620C>TCA367333365GLI3c.550G>A (p.Ala184Thr)
c.373G>A (p.Ala125Thr)
n.527G>A
c.547G>A (p.Ala183Thr)
7g.42048621A>CCA454537635GLI3c.549T>G (p.Thr183=)
c.372T>G (p.Thr124=)
n.526T>G
c.546T>G (p.Thr182=)
7g.42048621A>GCA454537636GLI3c.549T>C (p.Thr183=)
c.372T>C (p.Thr124=)
n.526T>C
c.546T>C (p.Thr182=)
7g.42048621A>TCA454537637GLI3c.549T>A (p.Thr183=)
c.372T>A (p.Thr124=)
n.526T>A
c.546T>A (p.Thr182=)
7g.42048622delCA2580077123GLI3c.548del (p.Thr183MetfsTer?)
c.371del (p.Thr124MetfsTer?)
n.525del
c.545del (p.Thr182MetfsTer?)
 ClinVar
7g.42048622G>ACA367333369GLI3c.548C>T (p.Thr183Ile)
c.371C>T (p.Thr124Ile)
n.525C>T
c.545C>T (p.Thr182Ile)
7g.42048622G>CCA367333370GLI3c.548C>G (p.Thr183Ser)
c.371C>G (p.Thr124Ser)
n.525C>G
c.545C>G (p.Thr182Ser)
 dbSNP
7g.42048622G=CA1702699002GLI3c.548C= (p.Thr183=)
c.371C= (p.Thr124=)
n.525C=
c.545C= (p.Thr182=)
7g.42048622G>TCA367333371GLI3c.548C>A (p.Thr183Asn)
c.371C>A (p.Thr124Asn)
n.525C>A
c.545C>A (p.Thr182Asn)
7g.42048623T>ACA367333373GLI3c.547A>T (p.Thr183Ser)
c.370A>T (p.Thr124Ser)
n.524A>T
c.544A>T (p.Thr182Ser)
7g.42048623T>CCA4231148GLI3c.547A>G (p.Thr183Ala)
c.370A>G (p.Thr124Ala)
n.524A>G
c.544A>G (p.Thr182Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42048623T>GCA367333376GLI3c.547A>C (p.Thr183Pro)
c.370A>C (p.Thr124Pro)
n.524A>C
c.544A>C (p.Thr182Pro)
 gnomAD v4
7g.42048623T=CA1630834744GLI3c.547A= (p.Thr183=)
c.370A= (p.Thr124=)
n.524A=
c.544A= (p.Thr182=)
7g.42048623_42048630delCA2695207678GLI3c.540_547del (p.Asn181CysfsTer15)
c.363_370del (p.Asn122CysfsTer15)
n.517_524del
c.537_544del (p.Asn180CysfsTer15)
7g.42048624G>ACA156915781GLI3c.546C>T (p.Pro182=)
c.369C>T (p.Pro123=)
n.523C>T
c.543C>T (p.Pro181=)
 dbSNP gnomAD v4 COSMIC
7g.42048624G>CCA454537639GLI3c.546C>G (p.Pro182=)
c.369C>G (p.Pro123=)
n.523C>G
c.543C>G (p.Pro181=)
7g.42048624G=CA1702699007GLI3c.546C= (p.Pro182=)
c.369C= (p.Pro123=)
n.523C=
c.543C= (p.Pro181=)
7g.42048624G>TCA454537638GLI3c.546C>A (p.Pro182=)
c.369C>A (p.Pro123=)
n.523C>A
c.543C>A (p.Pro181=)
 ClinVar dbSNP
7g.42048627delCA2682512072GLI3c.546del (p.Thr183LeufsTer?)
c.369del (p.Thr124LeufsTer?)
n.523del
c.543del (p.Thr182LeufsTer?)
 gnomAD v4
7g.42048625G>ACA367333385GLI3c.545C>T (p.Pro182Leu)
c.368C>T (p.Pro123Leu)
n.522C>T
c.542C>T (p.Pro181Leu)
7g.42048625G>CCA367333383GLI3c.545C>G (p.Pro182Arg)
c.368C>G (p.Pro123Arg)
n.522C>G
c.542C>G (p.Pro181Arg)
7g.42048625G>TCA367333381GLI3c.545C>A (p.Pro182His)
c.368C>A (p.Pro123His)
n.522C>A
c.542C>A (p.Pro181His)
7g.42048626G>ACA156915789GLI3c.544C>T (p.Pro182Ser)
c.367C>T (p.Pro123Ser)
n.521C>T
c.541C>T (p.Pro181Ser)
 dbSNP
7g.42048626G>CCA367333390GLI3c.544C>G (p.Pro182Ala)
c.367C>G (p.Pro123Ala)
n.521C>G
c.541C>G (p.Pro181Ala)
7g.42048626G=CA1702699013GLI3c.544C= (p.Pro182=)
c.367C= (p.Pro123=)
n.521C=
c.541C= (p.Pro181=)
7g.42048626G>TCA367333388GLI3c.544C>A (p.Pro182Thr)
c.367C>A (p.Pro123Thr)
n.521C>A
c.541C>A (p.Pro181Thr)
7g.42048627G>ACA454537640GLI3c.543C>T (p.Asn181=)
c.366C>T (p.Asn122=)
n.520C>T
c.540C>T (p.Asn180=)
 dbSNP gnomAD v4
7g.42048627G>CCA367333391GLI3c.543C>G (p.Asn181Lys)
c.366C>G (p.Asn122Lys)
n.520C>G
c.540C>G (p.Asn180Lys)
7g.42048627G=CA1702699018GLI3c.543C= (p.Asn181=)
c.366C= (p.Asn122=)
n.520C=
c.540C= (p.Asn180=)
7g.42048627G>TCA367333396GLI3c.543C>A (p.Asn181Lys)
c.366C>A (p.Asn122Lys)
n.520C>A
c.540C>A (p.Asn180Lys)
7g.42048628T>ACA367333399GLI3c.542A>T (p.Asn181Ile)
c.365A>T (p.Asn122Ile)
n.519A>T
c.539A>T (p.Asn180Ile)
7g.42048628T>CCA367333400GLI3c.542A>G (p.Asn181Ser)
c.365A>G (p.Asn122Ser)
n.519A>G
c.539A>G (p.Asn180Ser)
 gnomAD v4
7g.42048628T>GCA367333402GLI3c.542A>C (p.Asn181Thr)
c.365A>C (p.Asn122Thr)
n.519A>C
c.539A>C (p.Asn180Thr)
 dbSNP
7g.42048628T=CA1702699020GLI3c.542A= (p.Asn181=)
c.365A= (p.Asn122=)
n.519A=
c.539A= (p.Asn180=)
7g.42048629T>ACA367333403GLI3c.541A>T (p.Asn181Tyr)
c.364A>T (p.Asn122Tyr)
n.518A>T
c.538A>T (p.Asn180Tyr)
7g.42048629T>CCA367333404GLI3c.541A>G (p.Asn181Asp)
c.364A>G (p.Asn122Asp)
n.518A>G
c.538A>G (p.Asn180Asp)
7g.42048629T>GCA367333405GLI3c.541A>C (p.Asn181His)
c.364A>C (p.Asn122His)
n.518A>C
c.538A>C (p.Asn180His)
7g.42048630C>ACA454537641GLI3c.540G>T (p.Arg180=)
c.363G>T (p.Arg121=)
n.517G>T
c.537G>T (p.Arg179=)
7g.42048630C>GCA454537642GLI3c.540G>C (p.Arg180=)
c.363G>C (p.Arg121=)
n.517G>C
c.537G>C (p.Arg179=)
7g.42048630C>TCA454537643GLI3c.540G>A (p.Arg180=)
c.363G>A (p.Arg121=)
n.517G>A
c.537G>A (p.Arg179=)
7g.42048631C>ACA367333406GLI3c.539G>T (p.Arg180Leu)
c.362G>T (p.Arg121Leu)
n.516G>T
c.536G>T (p.Arg179Leu)
7g.42048631C=CA1702699023GLI3c.539G= (p.Arg180=)
c.362G= (p.Arg121=)
n.516G=
c.536G= (p.Arg179=)
7g.42048631C>GCA367333408GLI3c.539G>C (p.Arg180Pro)
c.362G>C (p.Arg121Pro)
n.516G>C
c.536G>C (p.Arg179Pro)
7g.42048631C>TCA4231149GLI3c.539G>A (p.Arg180Gln)
c.362G>A (p.Arg121Gln)
n.516G>A
c.536G>A (p.Arg179Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42048632G>ACA4231150GLI3c.538C>T (p.Arg180Trp)
c.361C>T (p.Arg121Trp)
n.515C>T
c.535C>T (p.Arg179Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42048632G>CCA367333413GLI3c.538C>G (p.Arg180Gly)
c.361C>G (p.Arg121Gly)
n.515C>G
c.535C>G (p.Arg179Gly)
 dbSNP gnomAD v2 gnomAD v4
7g.42048632G=CA1702699028GLI3c.538C= (p.Arg180=)
c.361C= (p.Arg121=)
n.515C=
c.535C= (p.Arg179=)
7g.42048632G>TCA454537644GLI3c.538C>A (p.Arg180=)
c.361C>A (p.Arg121=)
n.515C>A
c.535C>A (p.Arg179=)
7g.42048633G>ACA4231151GLI3c.537C>T (p.His179=)
c.360C>T (p.His120=)
n.514C>T
c.534C>T (p.His178=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42048633G>CCA367333417GLI3c.537C>G (p.His179Gln)
c.360C>G (p.His120Gln)
n.514C>G
c.534C>G (p.His178Gln)
7g.42048633G=CA1702699032GLI3c.537C= (p.His179=)
c.360C= (p.His120=)
n.514C=
c.534C= (p.His178=)
7g.42048633G>TCA367333419GLI3c.537C>A (p.His179Gln)
c.360C>A (p.His120Gln)
n.514C>A
c.534C>A (p.His178Gln)
 gnomAD v4
7g.42048634T>ACA367333422GLI3c.536A>T (p.His179Leu)
c.359A>T (p.His120Leu)
n.513A>T
c.533A>T (p.His178Leu)
 gnomAD v3 gnomAD v4
7g.42048634T>CCA367333424GLI3c.536A>G (p.His179Arg)
c.359A>G (p.His120Arg)
n.513A>G
c.533A>G (p.His178Arg)
 gnomAD v4
7g.42048634T>GCA367333426GLI3c.536A>C (p.His179Pro)
c.359A>C (p.His120Pro)
n.513A>C
c.533A>C (p.His178Pro)
 gnomAD v4
7g.42048635G>ACA367333428GLI3c.535C>T (p.His179Tyr)
c.358C>T (p.His120Tyr)
n.512C>T
c.532C>T (p.His178Tyr)
 gnomAD v4
7g.42048635G>CCA367333430GLI3c.535C>G (p.His179Asp)
c.358C>G (p.His120Asp)
n.512C>G
c.532C>G (p.His178Asp)
7g.42048635G>TCA367333431GLI3c.535C>A (p.His179Asn)
c.358C>A (p.His120Asn)
n.512C>A
c.532C>A (p.His178Asn)
7g.42048636T>ACA454537645GLI3c.534A>T (p.Pro178=)
c.357A>T (p.Pro119=)
n.511A>T
c.531A>T (p.Pro177=)
7g.42048636T>CCA454537646GLI3c.534A>G (p.Pro178=)
c.357A>G (p.Pro119=)
n.511A>G
c.531A>G (p.Pro177=)
7g.42048636T>GCA454537647GLI3c.534A>C (p.Pro178=)
c.357A>C (p.Pro119=)
n.511A>C
c.531A>C (p.Pro177=)
7g.42048637G>ACA367333434GLI3c.533C>T (p.Pro178Leu)
c.356C>T (p.Pro119Leu)
n.510C>T
c.530C>T (p.Pro177Leu)
7g.42048637G>CCA367333436GLI3c.533C>G (p.Pro178Arg)
c.356C>G (p.Pro119Arg)
n.510C>G
c.530C>G (p.Pro177Arg)
7g.42048637G>TCA367333438GLI3c.533C>A (p.Pro178Gln)
c.356C>A (p.Pro119Gln)
n.510C>A
c.530C>A (p.Pro177Gln)
 gnomAD v4
7g.42048640dupCA2580077124GLI3c.533dup (p.His179ThrfsTer20)
c.356dup (p.His120ThrfsTer20)
c.533dup (p.His179ThrfsTer?)
n.510dup
c.530dup (p.His178ThrfsTer20)
 ClinVar
7g.42048640delCA2547864104GLI3c.533del (p.Pro178HisfsTer?)
c.356del (p.Pro119HisfsTer?)
n.510del
c.530del (p.Pro177HisfsTer?)
7g.42048638G>ACA367333443GLI3c.532C>T (p.Pro178Ser)
c.355C>T (p.Pro119Ser)
n.509C>T
c.529C>T (p.Pro177Ser)
7g.42048638G>CCA367333445GLI3c.532C>G (p.Pro178Ala)
c.355C>G (p.Pro119Ala)
n.509C>G
c.529C>G (p.Pro177Ala)
7g.42048638G=CA1702699035GLI3c.532C= (p.Pro178=)
c.355C= (p.Pro119=)
n.509C=
c.529C= (p.Pro177=)
7g.42048638G>TCA367333441GLI3c.532C>A (p.Pro178Thr)
c.355C>A (p.Pro119Thr)
n.509C>A
c.529C>A (p.Pro177Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.42048639G>ACA454537648GLI3c.531C>T (p.Ser177=)
c.354C>T (p.Ser118=)
n.508C>T
c.528C>T (p.Ser176=)
7g.42048639G>CCA454537649GLI3c.531C>G (p.Ser177=)
c.354C>G (p.Ser118=)
n.508C>G
c.528C>G (p.Ser176=)
7g.42048639G>TCA454537650GLI3c.531C>A (p.Ser177=)
c.354C>A (p.Ser118=)
n.508C>A
c.528C>A (p.Ser176=)
7g.42048640G>ACA367333447GLI3c.530C>T (p.Ser177Phe)
c.353C>T (p.Ser118Phe)
n.507C>T
c.527C>T (p.Ser176Phe)
 COSMIC
7g.42048640G>CCA367333450GLI3c.530C>G (p.Ser177Cys)
c.353C>G (p.Ser118Cys)
n.507C>G
c.527C>G (p.Ser176Cys)
7g.42048640G>TCA367333452GLI3c.530C>A (p.Ser177Tyr)
c.353C>A (p.Ser118Tyr)
n.507C>A
c.527C>A (p.Ser176Tyr)
7g.42048641A>CCA367333455GLI3c.529T>G (p.Ser177Ala)
c.352T>G (p.Ser118Ala)
n.506T>G
c.526T>G (p.Ser176Ala)
 gnomAD v4
7g.42048641A>GCA367333457GLI3c.529T>C (p.Ser177Pro)
c.352T>C (p.Ser118Pro)
n.506T>C
c.526T>C (p.Ser176Pro)
7g.42048641A>TCA367333459GLI3c.529T>A (p.Ser177Thr)
c.352T>A (p.Ser118Thr)
n.506T>A
c.526T>A (p.Ser176Thr)
7g.42048642G>ACA4231152GLI3c.528C>T (p.Ile176=)
c.351C>T (p.Ile117=)
n.505C>T
c.525C>T (p.Ile175=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42048642G>CCA10586994GLI3c.528C>G (p.Ile176Met)
c.351C>G (p.Ile117Met)
n.505C>G
c.525C>G (p.Ile175Met)
 ClinVar dbSNP
7g.42048642G=CA1702699037GLI3c.528C= (p.Ile176=)
c.351C= (p.Ile117=)
n.505C=
c.525C= (p.Ile175=)
7g.42048642G>TCA454537651GLI3c.528C>A (p.Ile176=)
c.351C>A (p.Ile117=)
n.505C>A
c.525C>A (p.Ile175=)
7g.42048643A>CCA367333466GLI3c.527T>G (p.Ile176Ser)
c.350T>G (p.Ile117Ser)
n.504T>G
c.524T>G (p.Ile175Ser)
7g.42048643A>GCA367333468GLI3c.527T>C (p.Ile176Thr)
c.350T>C (p.Ile117Thr)
n.504T>C
c.524T>C (p.Ile175Thr)
7g.42048643A>TCA367333470GLI3c.527T>A (p.Ile176Asn)
c.350T>A (p.Ile117Asn)
n.504T>A
c.524T>A (p.Ile175Asn)
7g.42048644T>ACA367333472GLI3c.526A>T (p.Ile176Phe)
c.349A>T (p.Ile117Phe)
n.503A>T
c.523A>T (p.Ile175Phe)
7g.42048644T>CCA367333474GLI3c.526A>G (p.Ile176Val)
c.349A>G (p.Ile117Val)
n.503A>G
c.523A>G (p.Ile175Val)
 COSMIC
7g.42048644T>GCA367333476GLI3c.526A>C (p.Ile176Leu)
c.349A>C (p.Ile117Leu)
n.503A>C
c.523A>C (p.Ile175Leu)
 dbSNP gnomAD v3 gnomAD v4
7g.42048644T=CA1702699042GLI3c.526A= (p.Ile176=)
c.349A= (p.Ile117=)
n.503A=
c.523A= (p.Ile175=)
7g.42048645C>ACA367333478GLI3c.525G>T (p.Arg175Ser)
c.348G>T (p.Arg116Ser)
n.502G>T
c.522G>T (p.Arg174Ser)
7g.42048645C>GCA367333479GLI3c.525G>C (p.Arg175Ser)
c.348G>C (p.Arg116Ser)
n.502G>C
c.522G>C (p.Arg174Ser)
 gnomAD v4
7g.42048645C>TCA454537652GLI3c.525G>A (p.Arg175=)
c.348G>A (p.Arg116=)
n.502G>A
c.522G>A (p.Arg174=)
7g.42048646C>ACA367333483GLI3c.524G>T (p.Arg175Met)
c.347G>T (p.Arg116Met)
n.501G>T
c.521G>T (p.Arg174Met)
7g.42048646C>GCA367333484GLI3c.524G>C (p.Arg175Thr)
c.347G>C (p.Arg116Thr)
n.501G>C
c.521G>C (p.Arg174Thr)
7g.42048646C>TCA367333486GLI3c.524G>A (p.Arg175Lys)
c.347G>A (p.Arg116Lys)
n.501G>A
c.521G>A (p.Arg174Lys)
7g.42048647T>ACA367333488GLI3c.523A>T (p.Arg175Trp)
c.346A>T (p.Arg116Trp)
n.500A>T
c.520A>T (p.Arg174Trp)
7g.42048647T>CCA367333490GLI3c.523A>G (p.Arg175Gly)
c.346A>G (p.Arg116Gly)
n.500A>G
c.520A>G (p.Arg174Gly)
7g.42048647T>GCA454537654GLI3c.523A>C (p.Arg175=)
c.346A>C (p.Arg116=)
n.500A>C
c.520A>C (p.Arg174=)
7g.42048648A=CA1702699045GLI3c.522T= (p.Ile174=)
c.345T= (p.Ile115=)
n.499T=
c.519T= (p.Ile173=)
7g.42048648A>CCA367333492GLI3c.522T>G (p.Ile174Met)
c.345T>G (p.Ile115Met)
n.499T>G
c.519T>G (p.Ile173Met)
7g.42048648A>GCA454537655GLI3c.522T>C (p.Ile174=)
c.345T>C (p.Ile115=)
n.499T>C
c.519T>C (p.Ile173=)
 ClinVar
7g.42048648A>TCA454537656GLI3c.522T>A (p.Ile174=)
c.345T>A (p.Ile115=)
n.499T>A
c.519T>A (p.Ile173=)
7g.42048648_42048649insCAGCA4231153GLI3c.521_522insCTG (p.Ile174_Arg175insCys)
c.344_345insCTG (p.Ile115_Arg116insCys)
n.498_499insCTG
c.518_519insCTG (p.Ile173_Arg174insCys)
 dbSNP ExAC
7g.42048648_42048649insCAGATGGTCA573911006GLI3c.521_522insACCATCTG (p.Arg175ProfsTer?)
c.344_345insACCATCTG (p.Arg116ProfsTer?)
n.498_499insACCATCTG
c.518_519insACCATCTG (p.Arg174ProfsTer?)
 dbSNP gnomAD v2
7g.42048649A=CA1702699050GLI3c.521T= (p.Ile174=)
c.344T= (p.Ile115=)
n.498T=
c.518T= (p.Ile173=)
7g.42048649A>CCA367333497GLI3c.521T>G (p.Ile174Ser)
c.344T>G (p.Ile115Ser)
n.498T>G
c.518T>G (p.Ile173Ser)
 dbSNP
7g.42048649A>GCA367333499GLI3c.521T>C (p.Ile174Thr)
c.344T>C (p.Ile115Thr)
n.498T>C
c.518T>C (p.Ile173Thr)
7g.42048649A>TCA367333501GLI3c.521T>A (p.Ile174Asn)
c.344T>A (p.Ile115Asn)
n.498T>A
c.518T>A (p.Ile173Asn)
7g.42048650T>ACA367333504GLI3c.520A>T (p.Ile174Phe)
c.343A>T (p.Ile115Phe)
n.497A>T
c.517A>T (p.Ile173Phe)
 dbSNP gnomAD v4
7g.42048650T>CCA367333506GLI3c.520A>G (p.Ile174Val)
c.343A>G (p.Ile115Val)
n.497A>G
c.517A>G (p.Ile173Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.42048650T>GCA367333508GLI3c.520A>C (p.Ile174Leu)
c.343A>C (p.Ile115Leu)
n.497A>C
c.517A>C (p.Ile173Leu)
7g.42048650T=CA1702699053GLI3c.520A= (p.Ile174=)
c.343A= (p.Ile115=)
n.497A=
c.517A= (p.Ile173=)
7g.42048651G>ACA454537657GLI3c.519C>T (p.Phe173=)
c.342C>T (p.Phe114=)
n.496C>T
c.516C>T (p.Phe172=)
 COSMIC
7g.42048651G>CCA367333511GLI3c.519C>G (p.Phe173Leu)
c.342C>G (p.Phe114Leu)
n.496C>G
c.516C>G (p.Phe172Leu)
7g.42048651G>TCA367333512GLI3c.519C>A (p.Phe173Leu)
c.342C>A (p.Phe114Leu)
n.496C>A
c.516C>A (p.Phe172Leu)
7g.42048652A=CA1702699059GLI3c.518T= (p.Phe173=)
c.341T= (p.Phe114=)
n.495T=
c.515T= (p.Phe172=)
7g.42048652A>CCA367333515GLI3c.518T>G (p.Phe173Cys)
c.341T>G (p.Phe114Cys)
n.495T>G
c.515T>G (p.Phe172Cys)
7g.42048652A>GCA4231154GLI3c.518T>C (p.Phe173Ser)
c.341T>C (p.Phe114Ser)
n.495T>C
c.515T>C (p.Phe172Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.42048652A>TCA367333518GLI3c.518T>A (p.Phe173Tyr)
c.341T>A (p.Phe114Tyr)
n.495T>A
c.515T>A (p.Phe172Tyr)
7g.42048653dupCA2695207679GLI3c.518dup (p.Ile174HisfsTer2)
c.341dup (p.Ile115HisfsTer2)
n.495dup
c.515dup (p.Ile173HisfsTer2)
7g.42048653A>CCA367333521GLI3c.517T>G (p.Phe173Val)
c.340T>G (p.Phe114Val)
n.494T>G
c.514T>G (p.Phe172Val)
7g.42048653A>GCA367333522GLI3c.517T>C (p.Phe173Leu)
c.340T>C (p.Phe114Leu)
n.494T>C
c.514T>C (p.Phe172Leu)
7g.42048653A>TCA367333523GLI3c.517T>A (p.Phe173Ile)
c.340T>A (p.Phe114Ile)
n.494T>A
c.514T>A (p.Phe172Ile)
7g.42048654G>ACA454537658GLI3c.516C>T (p.Pro172=)
c.339C>T (p.Pro113=)
n.493C>T
c.513C>T (p.Pro171=)
7g.42048654G>CCA454537659GLI3c.516C>G (p.Pro172=)
c.339C>G (p.Pro113=)
n.493C>G
c.513C>G (p.Pro171=)
7g.42048654G=CA1702699063GLI3c.516C= (p.Pro172=)
c.339C= (p.Pro113=)
n.493C=
c.513C= (p.Pro171=)
7g.42048654G>TCA156915813GLI3c.516C>A (p.Pro172=)
c.339C>A (p.Pro113=)
n.493C>A
c.513C>A (p.Pro171=)
 dbSNP
7g.42048655G>ACA367333526GLI3c.515C>T (p.Pro172Leu)
c.338C>T (p.Pro113Leu)
n.492C>T
c.512C>T (p.Pro171Leu)
7g.42048655G>CCA367333525GLI3c.515C>G (p.Pro172Arg)
c.338C>G (p.Pro113Arg)
n.492C>G
c.512C>G (p.Pro171Arg)
7g.42048655G>TCA367333524GLI3c.515C>A (p.Pro172His)
c.338C>A (p.Pro113His)
n.492C>A
c.512C>A (p.Pro171His)
7g.42048656G>ACA367333527GLI3c.514C>T (p.Pro172Ser)
c.337C>T (p.Pro113Ser)
n.491C>T
c.511C>T (p.Pro171Ser)
7g.42048656G>CCA367333528GLI3c.514C>G (p.Pro172Ala)
c.337C>G (p.Pro113Ala)
n.491C>G
c.511C>G (p.Pro171Ala)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.42048656G=CA1702699069GLI3c.514C= (p.Pro172=)
c.337C= (p.Pro113=)
n.491C=
c.511C= (p.Pro171=)
7g.42048656G>TCA367333529GLI3c.514C>A (p.Pro172Thr)
c.337C>A (p.Pro113Thr)
n.491C>A
c.511C>A (p.Pro171Thr)
7g.42048657C>ACA454537660GLI3c.513G>T (p.Leu171=)
c.336G>T (p.Leu112=)
n.490G>T
c.510G>T (p.Leu170=)
7g.42048657C=CA1702699073GLI3c.513G= (p.Leu171=)
c.336G= (p.Leu112=)
n.490G=
c.510G= (p.Leu170=)
7g.42048657C>GCA454537662GLI3c.513G>C (p.Leu171=)
c.336G>C (p.Leu112=)
n.490G>C
c.510G>C (p.Leu170=)
7g.42048657C>TCA454537661GLI3c.513G>A (p.Leu171=)
c.336G>A (p.Leu112=)
n.490G>A
c.510G>A (p.Leu170=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.42048658A>CCA367333530GLI3c.512T>G (p.Leu171Arg)
c.335T>G (p.Leu112Arg)
n.489T>G
c.509T>G (p.Leu170Arg)
7g.42048658A>GCA367333531GLI3c.512T>C (p.Leu171Pro)
c.335T>C (p.Leu112Pro)
n.489T>C
c.509T>C (p.Leu170Pro)
7g.42048658A>TCA367333532GLI3c.512T>A (p.Leu171Gln)
c.335T>A (p.Leu112Gln)
n.489T>A
c.509T>A (p.Leu170Gln)
7g.42048659G>ACA4231155GLI3c.511C>T (p.Leu171=)
c.334C>T (p.Leu112=)
n.488C>T
c.508C>T (p.Leu170=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.42048659G>CCA367333534GLI3c.511C>G (p.Leu171Val)
c.334C>G (p.Leu112Val)
n.488C>G
c.508C>G (p.Leu170Val)
7g.42048659G=CA1702699077GLI3c.511C= (p.Leu171=)
c.334C= (p.Leu112=)
n.488C=
c.508C= (p.Leu170=)
7g.42048659G>TCA367333533GLI3c.511C>A (p.Leu171Met)
c.334C>A (p.Leu112Met)
n.488C>A
c.508C>A (p.Leu170Met)
7g.42048660G>ACA454537663GLI3c.510C>T (p.Asp170=)
c.333C>T (p.Asp111=)
n.487C>T
c.507C>T (p.Asp169=)
7g.42048660G>CCA367333535GLI3c.510C>G (p.Asp170Glu)
c.333C>G (p.Asp111Glu)
n.487C>G
c.507C>G (p.Asp169Glu)
7g.42048660G>TCA367333536GLI3c.510C>A (p.Asp170Glu)
c.333C>A (p.Asp111Glu)
n.487C>A
c.507C>A (p.Asp169Glu)
7g.42048661T>ACA367333537GLI3c.509A>T (p.Asp170Val)
c.332A>T (p.Asp111Val)
n.486A>T
c.506A>T (p.Asp169Val)
7g.42048661T>CCA367333538GLI3c.509A>G (p.Asp170Gly)
c.332A>G (p.Asp111Gly)
n.486A>G
c.506A>G (p.Asp169Gly)
7g.42048661T>GCA367333539GLI3c.509A>C (p.Asp170Ala)
c.332A>C (p.Asp111Ala)
n.486A>C
c.506A>C (p.Asp169Ala)
7g.42048662C>ACA156915825GLI3c.508G>T (p.Asp170Tyr)
c.331G>T (p.Asp111Tyr)
n.485G>T
c.505G>T (p.Asp169Tyr)
 dbSNP gnomAD v2 gnomAD v4
7g.42048662C=CA1702699080GLI3c.508G= (p.Asp170=)
c.331G= (p.Asp111=)
n.485G=
c.505G= (p.Asp169=)
7g.42048662C>GCA367333540GLI3c.508G>C (p.Asp170His)
c.331G>C (p.Asp111His)
n.485G>C
c.505G>C (p.Asp169His)
 ClinVar
7g.42048662C>TCA367333541GLI3c.508G>A (p.Asp170Asn)
c.331G>A (p.Asp111Asn)
n.485G>A
c.505G>A (p.Asp169Asn)
7g.42048663C>ACA454537664GLI3c.507G>T (p.Pro169=)
c.330G>T (p.Pro110=)
n.484G>T
c.504G>T (p.Pro168=)
7g.42048663C=CA1702699084GLI3c.507G= (p.Pro169=)
c.330G= (p.Pro110=)
n.484G=
c.504G= (p.Pro168=)
7g.42048663C>GCA454537665GLI3c.507G>C (p.Pro169=)
c.330G>C (p.Pro110=)
n.484G>C
c.504G>C (p.Pro168=)
 gnomAD v4
7g.42048663C>TCA4231156GLI3c.507G>A (p.Pro169=)
c.330G>A (p.Pro110=)
n.484G>A
c.504G>A (p.Pro168=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.42048663_42048664insACA573911007GLI3c.506_507insT (p.Asp170GlyfsTer6)
c.329_330insT (p.Asp111GlyfsTer6)
n.483_484insT
c.503_504insT (p.Asp169GlyfsTer6)
 gnomAD v2
7g.42048663_42048664insAGGATCA1702699090GLI3c.506_507insATCCT (p.Asp170SerfsTer?)
c.329_330insATCCT (p.Asp111SerfsTer?)
n.483_484insATCCT
c.503_504insATCCT (p.Asp169SerfsTer?)
 dbSNP
7g.42048664G>ACA367333542GLI3c.506C>T (p.Pro169Leu)
c.329C>T (p.Pro110Leu)
n.483C>T
c.503C>T (p.Pro168Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.42048664G>CCA367333543GLI3c.506C>G (p.Pro169Arg)
c.329C>G (p.Pro110Arg)
n.483C>G
c.503C>G (p.Pro168Arg)
7g.42048664G=CA1702699092GLI3c.506C= (p.Pro169=)
c.329C= (p.Pro110=)
n.483C=
c.503C= (p.Pro168=)
7g.42048664G>TCA367333544GLI3c.506C>A (p.Pro169Gln)
c.329C>A (p.Pro110Gln)
n.483C>A
c.503C>A (p.Pro168Gln)
 dbSNP
7g.42048665G>ACA367333548GLI3c.505C>T (p.Pro169Ser)
c.328C>T (p.Pro110Ser)
n.482C>T
c.502C>T (p.Pro168Ser)
 gnomAD v4
7g.42048665G>CCA367333545GLI3c.505C>G (p.Pro169Ala)
c.328C>G (p.Pro110Ala)
n.482C>G
c.502C>G (p.Pro168Ala)
7g.42048665G>TCA367333546GLI3c.505C>A (p.Pro169Thr)
c.328C>A (p.Pro110Thr)
n.482C>A
c.502C>A (p.Pro168Thr)
7g.42048666A>CCA367333551GLI3c.504T>G (p.Tyr168Ter)
c.327T>G (p.Tyr109Ter)
n.481T>G
c.501T>G (p.Tyr167Ter)
7g.42048666A>GCA454537666GLI3c.504T>C (p.Tyr168=)
c.327T>C (p.Tyr109=)
n.481T>C
c.501T>C (p.Tyr167=)
 gnomAD v4
7g.42048666A>TCA367333552GLI3c.504T>A (p.Tyr168Ter)
c.327T>A (p.Tyr109Ter)
n.481T>A
c.501T>A (p.Tyr167Ter)
7g.42048667T>ACA367333556GLI3c.503A>T (p.Tyr168Phe)
c.326A>T (p.Tyr109Phe)
n.480A>T
c.500A>T (p.Tyr167Phe)
7g.42048667T>CCA367333557GLI3c.503A>G (p.Tyr168Cys)
c.326A>G (p.Tyr109Cys)
n.480A>G
c.500A>G (p.Tyr167Cys)
 gnomAD v4
7g.42048667T>GCA367333558GLI3c.503A>C (p.Tyr168Ser)
c.326A>C (p.Tyr109Ser)
n.480A>C
c.500A>C (p.Tyr167Ser)
7g.42048668A>CCA367333561GLI3c.502T>G (p.Tyr168Asp)
c.325T>G (p.Tyr109Asp)
n.479T>G
c.499T>G (p.Tyr167Asp)
7g.42048668A>GCA367333562GLI3c.502T>C (p.Tyr168His)
c.325T>C (p.Tyr109His)
n.479T>C
c.499T>C (p.Tyr167His)
7g.42048668A>TCA367333564GLI3c.502T>A (p.Tyr168Asn)
c.325T>A (p.Tyr109Asn)
n.479T>A
c.499T>A (p.Tyr167Asn)
7g.42048669C>ACA454537667GLI3c.501G>T (p.Thr167=)
c.324G>T (p.Thr108=)
n.478G>T
c.498G>T (p.Thr166=)
7g.42048669C=CA1702699097GLI3c.501G= (p.Thr167=)
c.324G= (p.Thr108=)
n.478G=
c.498G= (p.Thr166=)
7g.42048669C>GCA454537668GLI3c.501G>C (p.Thr167=)
c.324G>C (p.Thr108=)
n.478G>C
c.498G>C (p.Thr166=)
7g.42048669C>TCA4231157GLI3c.501G>A (p.Thr167=)
c.324G>A (p.Thr108=)
n.478G>A
c.498G>A (p.Thr166=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.42048670G>ACA4231158GLI3c.500C>T (p.Thr167Met)
c.323C>T (p.Thr108Met)
n.477C>T
c.497C>T (p.Thr166Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.42048670G>CCA367333569GLI3c.500C>G (p.Thr167Arg)
c.323C>G (p.Thr108Arg)
n.477C>G
c.497C>G (p.Thr166Arg)
7g.42048670G=CA1702699104GLI3c.500C= (p.Thr167=)
c.323C= (p.Thr108=)
n.477C=
c.497C= (p.Thr166=)
7g.42048670G>TCA367333570GLI3c.500C>A (p.Thr167Lys)
c.323C>A (p.Thr108Lys)
n.477C>A
c.497C>A (p.Thr166Lys)
7g.42048671T>ACA367333573GLI3c.499A>T (p.Thr167Ser)
c.322A>T (p.Thr108Ser)
n.476A>T
c.496A>T (p.Thr166Ser)
7g.42048671T>CCA367333574GLI3c.499A>G (p.Thr167Ala)
c.322A>G (p.Thr108Ala)
n.476A>G
c.496A>G (p.Thr166Ala)
 dbSNP gnomAD v3 gnomAD v4
7g.42048671T>GCA367333576GLI3c.499A>C (p.Thr167Pro)
c.322A>C (p.Thr108Pro)
n.476A>C
c.496A>C (p.Thr166Pro)
 gnomAD v4
7g.42048671T=CA1702699108GLI3c.499A= (p.Thr167=)
c.322A= (p.Thr108=)
n.476A=
c.496A= (p.Thr166=)
7g.42048672A>CCA454537669GLI3c.498T>G (p.Pro166=)
c.321T>G (p.Pro107=)
n.475T>G
c.495T>G (p.Pro165=)
7g.42048672A>GCA454537670GLI3c.498T>C (p.Pro166=)
c.321T>C (p.Pro107=)
n.475T>C
c.495T>C (p.Pro165=)
7g.42048672A>TCA454537671GLI3c.498T>A (p.Pro166=)
c.321T>A (p.Pro107=)
n.475T>A
c.495T>A (p.Pro165=)
7g.42048673G>ACA367333579GLI3c.497C>T (p.Pro166Leu)
c.320C>T (p.Pro107Leu)
n.474C>T
c.494C>T (p.Pro165Leu)
7g.42048673G>CCA367333583GLI3c.497C>G (p.Pro166Arg)
c.320C>G (p.Pro107Arg)
n.474C>G
c.494C>G (p.Pro165Arg)
7g.42048673G>TCA367333581GLI3c.497C>A (p.Pro166His)
c.320C>A (p.Pro107His)
n.474C>A
c.494C>A (p.Pro165His)
7g.42048675delCA2695207680GLI3c.497del (p.Pro166LeufsTer?)
c.320del (p.Pro107LeufsTer?)
n.474del
c.494del (p.Pro165LeufsTer?)
7g.42048674G>ACA4231159GLI3c.496C>T (p.Pro166Ser)
c.319C>T (p.Pro107Ser)
n.473C>T
c.493C>T (p.Pro165Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42048674G>CCA367333586GLI3c.496C>G (p.Pro166Ala)
c.319C>G (p.Pro107Ala)
n.473C>G
c.493C>G (p.Pro165Ala)
7g.42048674G=CA1702699112GLI3c.496C= (p.Pro166=)
c.319C= (p.Pro107=)
n.473C=
c.493C= (p.Pro165=)
7g.42048674G>TCA367333588GLI3c.496C>A (p.Pro166Thr)
c.319C>A (p.Pro107Thr)
n.473C>A
c.493C>A (p.Pro165Thr)
7g.42048675G>ACA454537672GLI3c.495C>T (p.Ser165=)
c.318C>T (p.Ser106=)
n.472C>T
c.492C>T (p.Ser164=)
 gnomAD v4
7g.42048675G>CCA367333589GLI3c.495C>G (p.Ser165Arg)
c.318C>G (p.Ser106Arg)
n.472C>G
c.492C>G (p.Ser164Arg)
7g.42048675G>TCA367333591GLI3c.495C>A (p.Ser165Arg)
c.318C>A (p.Ser106Arg)
n.472C>A
c.492C>A (p.Ser164Arg)
 gnomAD v4
7g.42048676C>ACA367333594GLI3c.494G>T (p.Ser165Ile)
c.317G>T (p.Ser106Ile)
n.471G>T
c.491G>T (p.Ser164Ile)
7g.42048676C>GCA367333595GLI3c.494G>C (p.Ser165Thr)
c.317G>C (p.Ser106Thr)
n.471G>C
c.491G>C (p.Ser164Thr)
7g.42048676C>TCA367333597GLI3c.494G>A (p.Ser165Asn)
c.317G>A (p.Ser106Asn)
n.471G>A
c.491G>A (p.Ser164Asn)
7g.42048677T>ACA367333600GLI3c.493A>T (p.Ser165Cys)
c.316A>T (p.Ser106Cys)
n.470A>T
c.490A>T (p.Ser164Cys)
7g.42048677T>CCA367333601GLI3c.493A>G (p.Ser165Gly)
c.316A>G (p.Ser106Gly)
n.470A>G
c.490A>G (p.Ser164Gly)
7g.42048677T>GCA367333603GLI3c.493A>C (p.Ser165Arg)
c.316A>C (p.Ser106Arg)
n.470A>C
c.490A>C (p.Ser164Arg)
7g.42048678A=CA1702699115GLI3c.492T= (p.Ser164=)
c.315T= (p.Ser105=)
n.469T=
c.489T= (p.Ser163=)
7g.42048678A>CCA367333606GLI3c.492T>G (p.Ser164Arg)
c.315T>G (p.Ser105Arg)
n.469T>G
c.489T>G (p.Ser163Arg)
7g.42048678A>GCA4231160GLI3c.492T>C (p.Ser164=)
c.315T>C (p.Ser105=)
n.469T>C
c.489T>C (p.Ser163=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.42048678A>TCA367333607GLI3c.492T>A (p.Ser164Arg)
c.315T>A (p.Ser105Arg)
n.469T>A
c.489T>A (p.Ser163Arg)
7g.42048679C>ACA367333611GLI3c.491G>T (p.Ser164Ile)
c.314G>T (p.Ser105Ile)
n.468G>T
c.488G>T (p.Ser163Ile)
7g.42048679C=CA1702699119GLI3c.491G= (p.Ser164=)
c.314G= (p.Ser105=)
n.468G=
c.488G= (p.Ser163=)
7g.42048679C>GCA367333612GLI3c.491G>C (p.Ser164Thr)
c.314G>C (p.Ser105Thr)
n.468G>C
c.488G>C (p.Ser163Thr)
7g.42048679C>TCA4231161GLI3c.491G>A (p.Ser164Asn)
c.314G>A (p.Ser105Asn)
n.468G>A
c.488G>A (p.Ser163Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42048680T>ACA367333616GLI3c.490A>T (p.Ser164Cys)
c.313A>T (p.Ser105Cys)
n.467A>T
c.487A>T (p.Ser163Cys)
7g.42048680T>CCA367333617GLI3c.490A>G (p.Ser164Gly)
c.313A>G (p.Ser105Gly)
n.467A>G
c.487A>G (p.Ser163Gly)
7g.42048680T>GCA367333619GLI3c.490A>C (p.Ser164Arg)
c.313A>C (p.Ser105Arg)
n.467A>C
c.487A>C (p.Ser163Arg)
7g.42048681A>CCA454537673GLI3c.489T>G (p.Ser163=)
c.312T>G (p.Ser104=)
n.466T>G
c.486T>G (p.Ser162=)
7g.42048681A>GCA454537674GLI3c.489T>C (p.Ser163=)
c.312T>C (p.Ser104=)
n.466T>C
c.486T>C (p.Ser162=)
7g.42048681A>TCA454537675GLI3c.489T>A (p.Ser163=)
c.312T>A (p.Ser104=)
n.466T>A
c.486T>A (p.Ser162=)
7g.42048682G>ACA367333626GLI3c.488C>T (p.Ser163Phe)
c.311C>T (p.Ser104Phe)
n.465C>T
c.485C>T (p.Ser162Phe)
7g.42048682G>CCA367333622GLI3c.488C>G (p.Ser163Cys)
c.311C>G (p.Ser104Cys)
n.465C>G
c.485C>G (p.Ser162Cys)
7g.42048682G>TCA367333623GLI3c.488C>A (p.Ser163Tyr)
c.311C>A (p.Ser104Tyr)
n.465C>A
c.485C>A (p.Ser162Tyr)
7g.42048683A=CA1702699122GLI3c.487T= (p.Ser163=)
c.310T= (p.Ser104=)
n.464T=
c.484T= (p.Ser162=)
7g.42048683A>CCA367333628GLI3c.487T>G (p.Ser163Ala)
c.310T>G (p.Ser104Ala)
n.464T>G
c.484T>G (p.Ser162Ala)
7g.42048683A>GCA4231162GLI3c.487T>C (p.Ser163Pro)
c.310T>C (p.Ser104Pro)
n.464T>C
c.484T>C (p.Ser162Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42048683A>TCA367333631GLI3c.487T>A (p.Ser163Thr)
c.310T>A (p.Ser104Thr)
n.464T>A
c.484T>A (p.Ser162Thr)
7g.42048684T>ACA367333633GLI3c.486A>T (p.Leu162Phe)
c.309A>T (p.Leu103Phe)
n.463A>T
c.483A>T (p.Leu161Phe)
7g.42048684T>CCA454537676GLI3c.486A>G (p.Leu162=)
c.309A>G (p.Leu103=)
n.463A>G
c.483A>G (p.Leu161=)
7g.42048684T>GCA367333635GLI3c.486A>C (p.Leu162Phe)
c.309A>C (p.Leu103Phe)
n.463A>C
c.483A>C (p.Leu161Phe)
7g.42048685A>CCA367333641GLI3c.485T>G (p.Leu162Ter)
c.308T>G (p.Leu103Ter)
n.462T>G
c.482T>G (p.Leu161Ter)
7g.42048685A>GCA367333637GLI3c.485T>C (p.Leu162Ser)
c.308T>C (p.Leu103Ser)
n.462T>C
c.482T>C (p.Leu161Ser)
 gnomAD v4
7g.42048685A>TCA367333639GLI3c.485T>A (p.Leu162Ter)
c.308T>A (p.Leu103Ter)
n.462T>A
c.482T>A (p.Leu161Ter)
7g.42048686A>CCA367333642GLI3c.484T>G (p.Leu162Val)
c.307T>G (p.Leu103Val)
n.461T>G
c.481T>G (p.Leu161Val)
7g.42048686A>GCA454537677GLI3c.484T>C (p.Leu162=)
c.307T>C (p.Leu103=)
n.461T>C
c.481T>C (p.Leu161=)
7g.42048686A>TCA367333644GLI3c.484T>A (p.Leu162Ile)
c.307T>A (p.Leu103Ile)
n.461T>A
c.481T>A (p.Leu161Ile)
7g.42048687G>ACA4231163GLI3c.483C>T (p.Ala161=)
c.306C>T (p.Ala102=)
n.460C>T
c.480C>T (p.Ala160=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.42048687G>CCA454537678GLI3c.483C>G (p.Ala161=)
c.306C>G (p.Ala102=)
n.460C>G
c.480C>G (p.Ala160=)
7g.42048687G=CA1702699124GLI3c.483C= (p.Ala161=)
c.306C= (p.Ala102=)
n.460C=
c.480C= (p.Ala160=)
7g.42048687G>TCA454537679GLI3c.483C>A (p.Ala161=)
c.306C>A (p.Ala102=)
n.460C>A
c.480C>A (p.Ala160=)
7g.42048688G>ACA367333648GLI3c.482C>T (p.Ala161Val)
c.305C>T (p.Ala102Val)
n.459C>T
c.479C>T (p.Ala160Val)
7g.42048688G>CCA367333650GLI3c.482C>G (p.Ala161Gly)
c.305C>G (p.Ala102Gly)
n.459C>G
c.479C>G (p.Ala160Gly)
7g.42048688G>TCA367333651GLI3c.482C>A (p.Ala161Asp)
c.305C>A (p.Ala102Asp)
n.459C>A
c.479C>A (p.Ala160Asp)
 gnomAD v4
7g.42048689C>ACA367333653GLI3c.481G>T (p.Ala161Ser)
c.304G>T (p.Ala102Ser)
n.458G>T
c.478G>T (p.Ala160Ser)
 COSMIC
7g.42048689C=CA1702699129GLI3c.481G= (p.Ala161=)
c.304G= (p.Ala102=)
n.458G=
c.478G= (p.Ala160=)
7g.42048689C>GCA367333656GLI3c.481G>C (p.Ala161Pro)
c.304G>C (p.Ala102Pro)
n.458G>C
c.478G>C (p.Ala160Pro)
7g.42048689C>TCA4231164GLI3c.481G>A (p.Ala161Thr)
c.304G>A (p.Ala102Thr)
n.458G>A
c.478G>A (p.Ala160Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42048690G>ACA4231165GLI3c.480C>T (p.Ser160=)
c.303C>T (p.Ser101=)
n.457C>T
c.477C>T (p.Ser159=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.42048690G>CCA454537680GLI3c.480C>G (p.Ser160=)
c.303C>G (p.Ser101=)
n.457C>G
c.477C>G (p.Ser159=)
7g.42048690G=CA1702699135GLI3c.480C= (p.Ser160=)
c.303C= (p.Ser101=)
n.457C=
c.477C= (p.Ser159=)
7g.42048690G>TCA454537681GLI3c.480C>A (p.Ser160=)
c.303C>A (p.Ser101=)
n.457C>A
c.477C>A (p.Ser159=)
7g.42048691dupCA2695207682GLI3c.480dup (p.Ala161ArgfsTer4)
c.303dup (p.Ala102ArgfsTer4)
n.457dup
c.477dup (p.Ala160ArgfsTer4)
7g.42048691delCA2695207681GLI3c.480del (p.Ala161ProfsTer?)
c.303del (p.Ala102ProfsTer?)
n.457del
c.477del (p.Ala160ProfsTer?)
7g.42048691G>ACA4231166GLI3c.479C>T (p.Ser160Phe)
c.302C>T (p.Ser101Phe)
n.456C>T
c.476C>T (p.Ser159Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.42048691G>CCA367333661GLI3c.479C>G (p.Ser160Cys)
c.302C>G (p.Ser101Cys)
n.456C>G
c.476C>G (p.Ser159Cys)
 gnomAD v4
7g.42048691G=CA1702699139GLI3c.479C= (p.Ser160=)
c.302C= (p.Ser101=)
n.456C=
c.476C= (p.Ser159=)
7g.42048691G>TCA367333663GLI3c.479C>A (p.Ser160Tyr)
c.302C>A (p.Ser101Tyr)
n.456C>A
c.476C>A (p.Ser159Tyr)
7g.42048692A>CCA367333665GLI3c.478T>G (p.Ser160Ala)
c.301T>G (p.Ser101Ala)
n.455T>G
c.475T>G (p.Ser159Ala)
7g.42048692A>GCA367333668GLI3c.478T>C (p.Ser160Pro)
c.301T>C (p.Ser101Pro)
n.455T>C
c.475T>C (p.Ser159Pro)
7g.42048692A>TCA367333667GLI3c.478T>A (p.Ser160Thr)
c.301T>A (p.Ser101Thr)
n.455T>A
c.475T>A (p.Ser159Thr)
7g.42048693A>CCA454537682GLI3c.477T>G (p.Thr159=)
c.300T>G (p.Thr100=)
n.454T>G
c.474T>G (p.Thr158=)
7g.42048693A>GCA454537683GLI3c.477T>C (p.Thr159=)
c.300T>C (p.Thr100=)
n.454T>C
c.474T>C (p.Thr158=)
7g.42048693A>TCA454537684GLI3c.477T>A (p.Thr159=)
c.300T>A (p.Thr100=)
n.454T>A
c.474T>A (p.Thr158=)
7g.42048694G>ACA367333671GLI3c.476C>T (p.Thr159Ile)
c.299C>T (p.Thr100Ile)
n.453C>T
c.473C>T (p.Thr158Ile)
 dbSNP gnomAD v2
7g.42048694G>CCA367333672GLI3c.476C>G (p.Thr159Ser)
c.299C>G (p.Thr100Ser)
n.453C>G
c.473C>G (p.Thr158Ser)
7g.42048694G=CA1702699144GLI3c.476C= (p.Thr159=)
c.299C= (p.Thr100=)
n.453C=
c.473C= (p.Thr158=)
7g.42048694G>TCA367333673GLI3c.476C>A (p.Thr159Asn)
c.299C>A (p.Thr100Asn)
n.453C>A
c.473C>A (p.Thr158Asn)
 gnomAD v4
7g.42048695T>ACA367333675GLI3c.475A>T (p.Thr159Ser)
c.298A>T (p.Thr100Ser)
n.452A>T
c.472A>T (p.Thr158Ser)
7g.42048695T>CCA367333677GLI3c.475A>G (p.Thr159Ala)
c.298A>G (p.Thr100Ala)
n.452A>G
c.472A>G (p.Thr158Ala)
7g.42048695T>GCA367333678GLI3c.475A>C (p.Thr159Pro)
c.298A>C (p.Thr100Pro)
n.452A>C
c.472A>C (p.Thr158Pro)

Number of alleles fetched