Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.41966174C>ACA367320027GLI3c.2899G>T (p.Gly967Cys)
c.2725G>T (p.Gly909Cys)
n.2876G>T
c.2722G>T (p.Gly908Cys)
c.2896G>T (p.Gly966Cys)
gnomAD v4
7g.41966174C>GCA367320028GLI3c.2899G>C (p.Gly967Arg)
c.2725G>C (p.Gly909Arg)
n.2876G>C
c.2722G>C (p.Gly908Arg)
c.2896G>C (p.Gly966Arg)
7g.41966174C>TCA367320030GLI3c.2899G>A (p.Gly967Ser)
c.2725G>A (p.Gly909Ser)
n.2876G>A
c.2722G>A (p.Gly908Ser)
c.2896G>A (p.Gly966Ser)
gnomAD v4
7g.41966175delCA2499393374GLI3c.2898del (p.Gly967AlafsTer?)
c.2724del (p.Gly909AlafsTer?)
n.2875del
c.2721del (p.Gly908AlafsTer?)
c.2895del (p.Gly966AlafsTer?)
7g.41966175A>CCA454662160GLI3c.2898T>G (p.Pro966=)
c.2724T>G (p.Pro908=)
n.2875T>G
c.2721T>G (p.Pro907=)
c.2895T>G (p.Pro965=)
7g.41966175A>GCA454662161GLI3c.2898T>C (p.Pro966=)
c.2724T>C (p.Pro908=)
n.2875T>C
c.2721T>C (p.Pro907=)
c.2895T>C (p.Pro965=)
gnomAD v4
7g.41966175A>TCA454662162GLI3c.2898T>A (p.Pro966=)
c.2724T>A (p.Pro908=)
n.2875T>A
c.2721T>A (p.Pro907=)
c.2895T>A (p.Pro965=)
7g.41966176G>ACA367320034GLI3c.2897C>T (p.Pro966Leu)
c.2723C>T (p.Pro908Leu)
n.2874C>T
c.2720C>T (p.Pro907Leu)
c.2894C>T (p.Pro965Leu)
gnomAD v4
7g.41966176G>CCA367320036GLI3c.2897C>G (p.Pro966Arg)
c.2723C>G (p.Pro908Arg)
n.2874C>G
c.2720C>G (p.Pro907Arg)
c.2894C>G (p.Pro965Arg)
gnomAD v4
7g.41966176G>TCA367320038GLI3c.2897C>A (p.Pro966His)
c.2723C>A (p.Pro908His)
n.2874C>A
c.2720C>A (p.Pro907His)
c.2894C>A (p.Pro965His)
gnomAD v4
7g.41966177G>ACA367320040GLI3c.2896C>T (p.Pro966Ser)
c.2722C>T (p.Pro908Ser)
n.2873C>T
c.2719C>T (p.Pro907Ser)
c.2893C>T (p.Pro965Ser)
7g.41966177G>CCA367320042GLI3c.2896C>G (p.Pro966Ala)
c.2722C>G (p.Pro908Ala)
n.2873C>G
c.2719C>G (p.Pro907Ala)
c.2893C>G (p.Pro965Ala)
7g.41966177G=CA1702661151GLI3c.2896C= (p.Pro966=)
c.2722C= (p.Pro908=)
n.2873C=
c.2719C= (p.Pro907=)
c.2893C= (p.Pro965=)
7g.41966177G>TCA367320044GLI3c.2896C>A (p.Pro966Thr)
c.2722C>A (p.Pro908Thr)
n.2873C>A
c.2719C>A (p.Pro907Thr)
c.2893C>A (p.Pro965Thr)
dbSNP gnomAD v2 gnomAD v4
7g.41966178C>ACA367320047GLI3c.2895G>T (p.Glu965Asp)
c.2721G>T (p.Glu907Asp)
n.2872G>T
c.2718G>T (p.Glu906Asp)
c.2892G>T (p.Glu964Asp)
dbSNP gnomAD v2 gnomAD v4
7g.41966178C=CA1702661152GLI3c.2895G= (p.Glu965=)
c.2721G= (p.Glu907=)
n.2872G=
c.2718G= (p.Glu906=)
c.2892G= (p.Glu964=)
7g.41966178C>GCA367320048GLI3c.2895G>C (p.Glu965Asp)
c.2721G>C (p.Glu907Asp)
n.2872G>C
c.2718G>C (p.Glu906Asp)
c.2892G>C (p.Glu964Asp)
7g.41966178C>TCA454662165GLI3c.2895G>A (p.Glu965=)
c.2721G>A (p.Glu907=)
n.2872G>A
c.2718G>A (p.Glu906=)
c.2892G>A (p.Glu964=)
gnomAD v4
7g.41966179T>ACA367320056GLI3c.2894A>T (p.Glu965Val)
c.2720A>T (p.Glu907Val)
n.2871A>T
c.2717A>T (p.Glu906Val)
c.2891A>T (p.Glu964Val)
7g.41966179T>CCA367320054GLI3c.2894A>G (p.Glu965Gly)
c.2720A>G (p.Glu907Gly)
n.2871A>G
c.2717A>G (p.Glu906Gly)
c.2891A>G (p.Glu964Gly)
gnomAD v4
7g.41966179T>GCA367320052GLI3c.2894A>C (p.Glu965Ala)
c.2720A>C (p.Glu907Ala)
n.2871A>C
c.2717A>C (p.Glu906Ala)
c.2891A>C (p.Glu964Ala)
7g.41966180C>ACA367320059GLI3c.2893G>T (p.Glu965Ter)
c.2719G>T (p.Glu907Ter)
n.2870G>T
c.2716G>T (p.Glu906Ter)
c.2890G>T (p.Glu964Ter)
gnomAD v4
7g.41966180C=CA1702661153GLI3c.2893G= (p.Glu965=)
c.2719G= (p.Glu907=)
n.2870G=
c.2716G= (p.Glu906=)
c.2890G= (p.Glu964=)
7g.41966180C>GCA367320061GLI3c.2893G>C (p.Glu965Gln)
c.2719G>C (p.Glu907Gln)
n.2870G>C
c.2716G>C (p.Glu906Gln)
c.2890G>C (p.Glu964Gln)
gnomAD v4
7g.41966180C>TCA367320063GLI3c.2893G>A (p.Glu965Lys)
c.2719G>A (p.Glu907Lys)
n.2870G>A
c.2716G>A (p.Glu906Lys)
c.2890G>A (p.Glu964Lys)
dbSNP gnomAD v2 gnomAD v4
7g.41966181G>ACA156905082GLI3c.2892C>T (p.Leu964=)
c.2718C>T (p.Leu906=)
n.2869C>T
c.2715C>T (p.Leu905=)
c.2889C>T (p.Leu963=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.41966181G>CCA454662167GLI3c.2892C>G (p.Leu964=)
c.2718C>G (p.Leu906=)
n.2869C>G
c.2715C>G (p.Leu905=)
c.2889C>G (p.Leu963=)
gnomAD v4
7g.41966181G=CA1702661154GLI3c.2892C= (p.Leu964=)
c.2718C= (p.Leu906=)
n.2869C=
c.2715C= (p.Leu905=)
c.2889C= (p.Leu963=)
7g.41966181G>TCA454662170GLI3c.2892C>A (p.Leu964=)
c.2718C>A (p.Leu906=)
n.2869C>A
c.2715C>A (p.Leu905=)
c.2889C>A (p.Leu963=)
dbSNP gnomAD v2 gnomAD v4
7g.41966182delCA2682510162GLI3c.2891del (p.Leu964ProfsTer?)
c.2717del (p.Leu906ProfsTer?)
n.2868del
c.2714del (p.Leu905ProfsTer?)
c.2888del (p.Leu963ProfsTer?)
gnomAD v4
7g.41966182A=CA1702661155GLI3c.2891T= (p.Leu964=)
c.2717T= (p.Leu906=)
n.2868T=
c.2714T= (p.Leu905=)
c.2888T= (p.Leu963=)
7g.41966182A>CCA367320067GLI3c.2891T>G (p.Leu964Arg)
c.2717T>G (p.Leu906Arg)
n.2868T>G
c.2714T>G (p.Leu905Arg)
c.2888T>G (p.Leu963Arg)
7g.41966182A>GCA367320068GLI3c.2891T>C (p.Leu964Pro)
c.2717T>C (p.Leu906Pro)
n.2868T>C
c.2714T>C (p.Leu905Pro)
c.2888T>C (p.Leu963Pro)
dbSNP
7g.41966182A>TCA367320070GLI3c.2891T>A (p.Leu964His)
c.2717T>A (p.Leu906His)
n.2868T>A
c.2714T>A (p.Leu905His)
c.2888T>A (p.Leu963His)
7g.41966183G>ACA367320072GLI3c.2890C>T (p.Leu964Phe)
c.2716C>T (p.Leu906Phe)
n.2867C>T
c.2713C>T (p.Leu905Phe)
c.2887C>T (p.Leu963Phe)
7g.41966183G>CCA367320074GLI3c.2890C>G (p.Leu964Val)
c.2716C>G (p.Leu906Val)
n.2867C>G
c.2713C>G (p.Leu905Val)
c.2887C>G (p.Leu963Val)
7g.41966183G>TCA367320076GLI3c.2890C>A (p.Leu964Ile)
c.2716C>A (p.Leu906Ile)
n.2867C>A
c.2713C>A (p.Leu905Ile)
c.2887C>A (p.Leu963Ile)
gnomAD v4
7g.41966185delCA2682510163GLI3c.2890del (p.Leu964SerfsTer?)
c.2716del (p.Leu906SerfsTer?)
n.2867del
c.2713del (p.Leu905SerfsTer?)
c.2887del (p.Leu963SerfsTer?)
gnomAD v4
7g.41966184G>ACA454662172GLI3c.2889C>T (p.Ala963=)
c.2715C>T (p.Ala905=)
n.2866C>T
c.2712C>T (p.Ala904=)
c.2886C>T (p.Ala962=)
dbSNP gnomAD v2 COSMIC
7g.41966184G>CCA4230503GLI3c.2889C>G (p.Ala963=)
c.2715C>G (p.Ala905=)
n.2866C>G
c.2712C>G (p.Ala904=)
c.2886C>G (p.Ala962=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.41966184G=CA1702661156GLI3c.2889C= (p.Ala963=)
c.2715C= (p.Ala905=)
n.2866C=
c.2712C= (p.Ala904=)
c.2886C= (p.Ala962=)
7g.41966184G>TCA454662175GLI3c.2889C>A (p.Ala963=)
c.2715C>A (p.Ala905=)
n.2866C>A
c.2712C>A (p.Ala904=)
c.2886C>A (p.Ala962=)
gnomAD v4
7g.41966185G>ACA4230504GLI3c.2888C>T (p.Ala963Val)
c.2714C>T (p.Ala905Val)
n.2865C>T
c.2711C>T (p.Ala904Val)
c.2885C>T (p.Ala962Val)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.41966185G>CCA367320081GLI3c.2888C>G (p.Ala963Gly)
c.2714C>G (p.Ala905Gly)
n.2865C>G
c.2711C>G (p.Ala904Gly)
c.2885C>G (p.Ala962Gly)
7g.41966185G=CA1702661157GLI3c.2888C= (p.Ala963=)
c.2714C= (p.Ala905=)
n.2865C=
c.2711C= (p.Ala904=)
c.2885C= (p.Ala962=)
7g.41966185G>TCA367320082GLI3c.2888C>A (p.Ala963Asp)
c.2714C>A (p.Ala905Asp)
n.2865C>A
c.2711C>A (p.Ala904Asp)
c.2885C>A (p.Ala962Asp)
gnomAD v4
7g.41966186C>ACA367320090GLI3c.2887G>T (p.Ala963Ser)
c.2713G>T (p.Ala905Ser)
n.2864G>T
c.2710G>T (p.Ala904Ser)
c.2884G>T (p.Ala962Ser)
gnomAD v4
7g.41966186C=CA1702661158GLI3c.2887G= (p.Ala963=)
c.2713G= (p.Ala905=)
n.2864G=
c.2710G= (p.Ala904=)
c.2884G= (p.Ala962=)
7g.41966186C>GCA367320085GLI3c.2887G>C (p.Ala963Pro)
c.2713G>C (p.Ala905Pro)
n.2864G>C
c.2710G>C (p.Ala904Pro)
c.2884G>C (p.Ala962Pro)
7g.41966186C>TCA4230505GLI3c.2887G>A (p.Ala963Thr)
c.2713G>A (p.Ala905Thr)
n.2864G>A
c.2710G>A (p.Ala904Thr)
c.2884G>A (p.Ala962Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966187A>CCA367320092GLI3c.2886T>G (p.Asp962Glu)
c.2712T>G (p.Asp904Glu)
n.2863T>G
c.2709T>G (p.Asp903Glu)
c.2883T>G (p.Asp961Glu)
7g.41966187A>GCA454662179GLI3c.2886T>C (p.Asp962=)
c.2712T>C (p.Asp904=)
n.2863T>C
c.2709T>C (p.Asp903=)
c.2883T>C (p.Asp961=)
7g.41966187A>TCA367320093GLI3c.2886T>A (p.Asp962Glu)
c.2712T>A (p.Asp904Glu)
n.2863T>A
c.2709T>A (p.Asp903Glu)
c.2883T>A (p.Asp961Glu)
7g.41966188T>ACA367320094GLI3c.2885A>T (p.Asp962Val)
c.2711A>T (p.Asp904Val)
n.2862A>T
c.2708A>T (p.Asp903Val)
c.2882A>T (p.Asp961Val)
7g.41966188T>CCA367320095GLI3c.2885A>G (p.Asp962Gly)
c.2711A>G (p.Asp904Gly)
n.2862A>G
c.2708A>G (p.Asp903Gly)
c.2882A>G (p.Asp961Gly)
gnomAD v4
7g.41966188T>GCA367320098GLI3c.2885A>C (p.Asp962Ala)
c.2711A>C (p.Asp904Ala)
n.2862A>C
c.2708A>C (p.Asp903Ala)
c.2882A>C (p.Asp961Ala)
7g.41966189C>ACA367320101GLI3c.2884G>T (p.Asp962Tyr)
c.2710G>T (p.Asp904Tyr)
n.2861G>T
c.2707G>T (p.Asp903Tyr)
c.2881G>T (p.Asp961Tyr)
7g.41966189C=CA1702661159GLI3c.2884G= (p.Asp962=)
c.2710G= (p.Asp904=)
n.2861G=
c.2707G= (p.Asp903=)
c.2881G= (p.Asp961=)
7g.41966189C>GCA367320103GLI3c.2884G>C (p.Asp962His)
c.2710G>C (p.Asp904His)
n.2861G>C
c.2707G>C (p.Asp903His)
c.2881G>C (p.Asp961His)
ClinVar
7g.41966189C>TCA367320105GLI3c.2884G>A (p.Asp962Asn)
c.2710G>A (p.Asp904Asn)
n.2861G>A
c.2707G>A (p.Asp903Asn)
c.2881G>A (p.Asp961Asn)
dbSNP gnomAD v2 gnomAD v4
7g.41966192delCA2695207654GLI3c.2884del (p.Asp962MetfsTer?)
c.2710del (p.Asp904MetfsTer?)
n.2861del
c.2707del (p.Asp903MetfsTer?)
c.2881del (p.Asp961MetfsTer?)
7g.41966190C>ACA156905139GLI3c.2883G>T (p.Gly961=)
c.2709G>T (p.Gly903=)
n.2860G>T
c.2706G>T (p.Gly902=)
c.2880G>T (p.Gly960=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41966190C=CA1702661160GLI3c.2883G= (p.Gly961=)
c.2709G= (p.Gly903=)
n.2860G=
c.2706G= (p.Gly902=)
c.2880G= (p.Gly960=)
7g.41966190C>GCA454662183GLI3c.2883G>C (p.Gly961=)
c.2709G>C (p.Gly903=)
n.2860G>C
c.2706G>C (p.Gly902=)
c.2880G>C (p.Gly960=)
dbSNP gnomAD v4
7g.41966190C>TCA454662184GLI3c.2883G>A (p.Gly961=)
c.2709G>A (p.Gly903=)
n.2860G>A
c.2706G>A (p.Gly902=)
c.2880G>A (p.Gly960=)
dbSNP gnomAD v2 gnomAD v4
7g.41966191C>ACA367320109GLI3c.2882G>T (p.Gly961Val)
c.2708G>T (p.Gly903Val)
n.2859G>T
c.2705G>T (p.Gly902Val)
c.2879G>T (p.Gly960Val)
dbSNP gnomAD v2 gnomAD v4
7g.41966191C=CA1702661161GLI3c.2882G= (p.Gly961=)
c.2708G= (p.Gly903=)
n.2859G=
c.2705G= (p.Gly902=)
c.2879G= (p.Gly960=)
7g.41966191C>GCA367320110GLI3c.2882G>C (p.Gly961Ala)
c.2708G>C (p.Gly903Ala)
n.2859G>C
c.2705G>C (p.Gly902Ala)
c.2879G>C (p.Gly960Ala)
gnomAD v4
7g.41966191C>TCA367320113GLI3c.2882G>A (p.Gly961Glu)
c.2708G>A (p.Gly903Glu)
n.2859G>A
c.2705G>A (p.Gly902Glu)
c.2879G>A (p.Gly960Glu)
gnomAD v4
7g.41966192C>ACA367320119GLI3c.2881G>T (p.Gly961Trp)
c.2707G>T (p.Gly903Trp)
n.2858G>T
c.2704G>T (p.Gly902Trp)
c.2878G>T (p.Gly960Trp)
dbSNP gnomAD v2 gnomAD v4
7g.41966192C=CA1702661162GLI3c.2881G= (p.Gly961=)
c.2707G= (p.Gly903=)
n.2858G=
c.2704G= (p.Gly902=)
c.2878G= (p.Gly960=)
7g.41966192C>GCA367320117GLI3c.2881G>C (p.Gly961Arg)
c.2707G>C (p.Gly903Arg)
n.2858G>C
c.2704G>C (p.Gly902Arg)
c.2878G>C (p.Gly960Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.41966192C>TCA4230506GLI3c.2881G>A (p.Gly961Arg)
c.2707G>A (p.Gly903Arg)
n.2858G>A
c.2704G>A (p.Gly902Arg)
c.2878G>A (p.Gly960Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966193G>ACA4230507GLI3c.2880C>T (p.Leu960=)
c.2706C>T (p.Leu902=)
n.2857C>T
c.2703C>T (p.Leu901=)
c.2877C>T (p.Leu959=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.41966193G>CCA454662189GLI3c.2880C>G (p.Leu960=)
c.2706C>G (p.Leu902=)
n.2857C>G
c.2703C>G (p.Leu901=)
c.2877C>G (p.Leu959=)
gnomAD v4
7g.41966193G=CA1702661163GLI3c.2880C= (p.Leu960=)
c.2706C= (p.Leu902=)
n.2857C=
c.2703C= (p.Leu901=)
c.2877C= (p.Leu959=)
7g.41966193G>TCA454662192GLI3c.2880C>A (p.Leu960=)
c.2706C>A (p.Leu902=)
n.2857C>A
c.2703C>A (p.Leu901=)
c.2877C>A (p.Leu959=)
gnomAD v4
7g.41966194_41966198dupCA2740097348GLI3c.2876_2880dup (p.Gly961CysfsTer?)
c.2702_2706dup (p.Gly903CysfsTer?)
n.2853_2857dup
c.2699_2703dup (p.Gly902CysfsTer?)
c.2873_2877dup (p.Gly960CysfsTer?)
ClinVar
7g.41966194A>CCA367320128GLI3c.2879T>G (p.Leu960Arg)
c.2705T>G (p.Leu902Arg)
n.2856T>G
c.2702T>G (p.Leu901Arg)
c.2876T>G (p.Leu959Arg)
7g.41966194A>GCA367320124GLI3c.2879T>C (p.Leu960Pro)
c.2705T>C (p.Leu902Pro)
n.2856T>C
c.2702T>C (p.Leu901Pro)
c.2876T>C (p.Leu959Pro)
COSMIC
7g.41966194A>TCA367320126GLI3c.2879T>A (p.Leu960His)
c.2705T>A (p.Leu902His)
n.2856T>A
c.2702T>A (p.Leu901His)
c.2876T>A (p.Leu959His)
7g.41966194_41966199delinsAGCAGCCA1702661164GLI3c.2874_2879delinsGCTGCT (p.Ala958=)
c.2700_2705delinsGCTGCT (p.Ala900=)
n.2851_2856delinsGCTGCT
c.2697_2702delinsGCTGCT (p.Ala899=)
c.2871_2876delinsGCTGCT (p.Ala957=)
7g.41966195G>ACA367320131GLI3c.2878C>T (p.Leu960Phe)
c.2704C>T (p.Leu902Phe)
n.2855C>T
c.2701C>T (p.Leu901Phe)
c.2875C>T (p.Leu959Phe)
gnomAD v4
7g.41966195G>CCA367320133GLI3c.2878C>G (p.Leu960Val)
c.2704C>G (p.Leu902Val)
n.2855C>G
c.2701C>G (p.Leu901Val)
c.2875C>G (p.Leu959Val)
7g.41966195G>TCA367320135GLI3c.2878C>A (p.Leu960Ile)
c.2704C>A (p.Leu902Ile)
n.2855C>A
c.2701C>A (p.Leu901Ile)
c.2875C>A (p.Leu959Ile)
gnomAD v4
7g.41966197_41966201delCA917990642GLI3c.2874_2878del (p.Leu959ArgfsTer?)
c.2700_2704del (p.Leu901ArgfsTer?)
n.2851_2855del
c.2697_2701del (p.Leu900ArgfsTer?)
c.2871_2875del (p.Leu958ArgfsTer?)
dbSNP
7g.41966196C>ACA4230508GLI3c.2877G>T (p.Leu959=)
c.2703G>T (p.Leu901=)
n.2854G>T
c.2700G>T (p.Leu900=)
c.2874G>T (p.Leu958=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.41966196C=CA1702661165GLI3c.2877G= (p.Leu959=)
c.2703G= (p.Leu901=)
n.2854G=
c.2700G= (p.Leu900=)
c.2874G= (p.Leu958=)
7g.41966196C>GCA454662193GLI3c.2877G>C (p.Leu959=)
c.2703G>C (p.Leu901=)
n.2854G>C
c.2700G>C (p.Leu900=)
c.2874G>C (p.Leu958=)
7g.41966196C>TCA454662195GLI3c.2877G>A (p.Leu959=)
c.2703G>A (p.Leu901=)
n.2854G>A
c.2700G>A (p.Leu900=)
c.2874G>A (p.Leu958=)
gnomAD v4
7g.41966197A>CCA367320144GLI3c.2876T>G (p.Leu959Arg)
c.2702T>G (p.Leu901Arg)
n.2853T>G
c.2699T>G (p.Leu900Arg)
c.2873T>G (p.Leu958Arg)
7g.41966197A>GCA367320140GLI3c.2876T>C (p.Leu959Pro)
c.2702T>C (p.Leu901Pro)
n.2853T>C
c.2699T>C (p.Leu900Pro)
c.2873T>C (p.Leu958Pro)
7g.41966197A>TCA367320142GLI3c.2876T>A (p.Leu959Gln)
c.2702T>A (p.Leu901Gln)
n.2853T>A
c.2699T>A (p.Leu900Gln)
c.2873T>A (p.Leu958Gln)
7g.41966198G>ACA454662199GLI3c.2875C>T (p.Leu959=)
c.2701C>T (p.Leu901=)
n.2852C>T
c.2698C>T (p.Leu900=)
c.2872C>T (p.Leu958=)
gnomAD v4
7g.41966198G>CCA4230509GLI3c.2875C>G (p.Leu959Val)
c.2701C>G (p.Leu901Val)
n.2852C>G
c.2698C>G (p.Leu900Val)
c.2872C>G (p.Leu958Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966198G=CA1702661166GLI3c.2875C= (p.Leu959=)
c.2701C= (p.Leu901=)
n.2852C=
c.2698C= (p.Leu900=)
c.2872C= (p.Leu958=)
7g.41966198G>TCA367320148GLI3c.2875C>A (p.Leu959Met)
c.2701C>A (p.Leu901Met)
n.2852C>A
c.2698C>A (p.Leu900Met)
c.2872C>A (p.Leu958Met)
gnomAD v4
7g.41966199C>ACA454662200GLI3c.2874G>T (p.Ala958=)
c.2700G>T (p.Ala900=)
n.2851G>T
c.2697G>T (p.Ala899=)
c.2871G>T (p.Ala957=)
gnomAD v4
7g.41966199C>GCA454662201GLI3c.2874G>C (p.Ala958=)
c.2700G>C (p.Ala900=)
n.2851G>C
c.2697G>C (p.Ala899=)
c.2871G>C (p.Ala957=)
gnomAD v4
7g.41966199C>TCA454662203GLI3c.2874G>A (p.Ala958=)
c.2700G>A (p.Ala900=)
n.2851G>A
c.2697G>A (p.Ala899=)
c.2871G>A (p.Ala957=)
gnomAD v4 COSMIC
7g.41966200G>ACA4230510GLI3c.2873C>T (p.Ala958Val)
c.2699C>T (p.Ala900Val)
n.2850C>T
c.2696C>T (p.Ala899Val)
c.2870C>T (p.Ala957Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.41966200G>CCA367320151GLI3c.2873C>G (p.Ala958Gly)
c.2699C>G (p.Ala900Gly)
n.2850C>G
c.2696C>G (p.Ala899Gly)
c.2870C>G (p.Ala957Gly)
7g.41966200G=CA1702661167GLI3c.2873C= (p.Ala958=)
c.2699C= (p.Ala900=)
n.2850C=
c.2696C= (p.Ala899=)
c.2870C= (p.Ala957=)
7g.41966200G>TCA367320153GLI3c.2873C>A (p.Ala958Glu)
c.2699C>A (p.Ala900Glu)
n.2850C>A
c.2696C>A (p.Ala899Glu)
c.2870C>A (p.Ala957Glu)
gnomAD v4
7g.41966201C>ACA367320156GLI3c.2872G>T (p.Ala958Ser)
c.2698G>T (p.Ala900Ser)
n.2849G>T
c.2695G>T (p.Ala899Ser)
c.2869G>T (p.Ala957Ser)
7g.41966201C>GCA367320160GLI3c.2872G>C (p.Ala958Pro)
c.2698G>C (p.Ala900Pro)
n.2849G>C
c.2695G>C (p.Ala899Pro)
c.2869G>C (p.Ala957Pro)
7g.41966201C>TCA367320158GLI3c.2872G>A (p.Ala958Thr)
c.2698G>A (p.Ala900Thr)
n.2849G>A
c.2695G>A (p.Ala899Thr)
c.2869G>A (p.Ala957Thr)
7g.41966202C>ACA454662208GLI3c.2871G>T (p.Leu957=)
c.2697G>T (p.Leu899=)
n.2848G>T
c.2694G>T (p.Leu898=)
c.2868G>T (p.Leu956=)
7g.41966202C>GCA454662210GLI3c.2871G>C (p.Leu957=)
c.2697G>C (p.Leu899=)
n.2848G>C
c.2694G>C (p.Leu898=)
c.2868G>C (p.Leu956=)
7g.41966202C>TCA454662213GLI3c.2871G>A (p.Leu957=)
c.2697G>A (p.Leu899=)
n.2848G>A
c.2694G>A (p.Leu898=)
c.2868G>A (p.Leu956=)
gnomAD v4
7g.41966203A=CA1702661168GLI3c.2870T= (p.Leu957=)
c.2696T= (p.Leu899=)
n.2847T=
c.2693T= (p.Leu898=)
c.2867T= (p.Leu956=)
7g.41966203A>CCA367320164GLI3c.2870T>G (p.Leu957Arg)
c.2696T>G (p.Leu899Arg)
n.2847T>G
c.2693T>G (p.Leu898Arg)
c.2867T>G (p.Leu956Arg)
gnomAD v4
7g.41966203A>GCA367320165GLI3c.2870T>C (p.Leu957Pro)
c.2696T>C (p.Leu899Pro)
n.2847T>C
c.2693T>C (p.Leu898Pro)
c.2867T>C (p.Leu956Pro)
gnomAD v4
7g.41966203A>TCA367320166GLI3c.2870T>A (p.Leu957Gln)
c.2696T>A (p.Leu899Gln)
n.2847T>A
c.2693T>A (p.Leu898Gln)
c.2867T>A (p.Leu956Gln)
dbSNP
7g.41966204G>ACA454662216GLI3c.2869C>T (p.Leu957=)
c.2695C>T (p.Leu899=)
n.2846C>T
c.2692C>T (p.Leu898=)
c.2866C>T (p.Leu956=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41966204G>CCA367320169GLI3c.2869C>G (p.Leu957Val)
c.2695C>G (p.Leu899Val)
n.2846C>G
c.2692C>G (p.Leu898Val)
c.2866C>G (p.Leu956Val)
7g.41966204G=CA1702661169GLI3c.2869C= (p.Leu957=)
c.2695C= (p.Leu899=)
n.2846C=
c.2692C= (p.Leu898=)
c.2866C= (p.Leu956=)
7g.41966204G>TCA367320171GLI3c.2869C>A (p.Leu957Met)
c.2695C>A (p.Leu899Met)
n.2846C>A
c.2692C>A (p.Leu898Met)
c.2866C>A (p.Leu956Met)
gnomAD v4
7g.41966205G>ACA156905179GLI3c.2868C>T (p.Arg956=)
c.2694C>T (p.Arg898=)
n.2845C>T
c.2691C>T (p.Arg897=)
c.2865C>T (p.Arg955=)
dbSNP gnomAD v4
7g.41966205G>CCA454662218GLI3c.2868C>G (p.Arg956=)
c.2694C>G (p.Arg898=)
n.2845C>G
c.2691C>G (p.Arg897=)
c.2865C>G (p.Arg955=)
7g.41966205G=CA1702661170GLI3c.2868C= (p.Arg956=)
c.2694C= (p.Arg898=)
n.2845C=
c.2691C= (p.Arg897=)
c.2865C= (p.Arg955=)
7g.41966205G>TCA454662217GLI3c.2868C>A (p.Arg956=)
c.2694C>A (p.Arg898=)
n.2845C>A
c.2691C>A (p.Arg897=)
c.2865C>A (p.Arg955=)
gnomAD v4
7g.41966206delCA2695207657GLI3c.2867del (p.Arg956ProfsTer?)
c.2693del (p.Arg898ProfsTer?)
n.2844del
c.2690del (p.Arg897ProfsTer?)
c.2864del (p.Arg955ProfsTer?)
7g.41966206C>ACA4230511GLI3c.2867G>T (p.Arg956Leu)
c.2693G>T (p.Arg898Leu)
n.2844G>T
c.2690G>T (p.Arg897Leu)
c.2864G>T (p.Arg955Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966206C=CA1702661171GLI3c.2867G= (p.Arg956=)
c.2693G= (p.Arg898=)
n.2844G=
c.2690G= (p.Arg897=)
c.2864G= (p.Arg955=)
7g.41966206C>GCA367320175GLI3c.2867G>C (p.Arg956Pro)
c.2693G>C (p.Arg898Pro)
n.2844G>C
c.2690G>C (p.Arg897Pro)
c.2864G>C (p.Arg955Pro)
gnomAD v4
7g.41966206C>TCA367320177GLI3c.2867G>A (p.Arg956His)
c.2693G>A (p.Arg898His)
n.2844G>A
c.2690G>A (p.Arg897His)
c.2864G>A (p.Arg955His)
ClinVar gnomAD v4
7g.41966207G>ACA367320178GLI3c.2866C>T (p.Arg956Cys)
c.2692C>T (p.Arg898Cys)
n.2843C>T
c.2689C>T (p.Arg897Cys)
c.2863C>T (p.Arg955Cys)
dbSNP gnomAD v4 COSMIC
7g.41966207G>CCA367320179GLI3c.2866C>G (p.Arg956Gly)
c.2692C>G (p.Arg898Gly)
n.2843C>G
c.2689C>G (p.Arg897Gly)
c.2863C>G (p.Arg955Gly)
7g.41966207G=CA1702661172GLI3c.2866C= (p.Arg956=)
c.2692C= (p.Arg898=)
n.2843C=
c.2689C= (p.Arg897=)
c.2863C= (p.Arg955=)
7g.41966207G>TCA367320180GLI3c.2866C>A (p.Arg956Ser)
c.2692C>A (p.Arg898Ser)
n.2843C>A
c.2689C>A (p.Arg897Ser)
c.2863C>A (p.Arg955Ser)
gnomAD v4
7g.41966208C>ACA454662222GLI3c.2865G>T (p.Thr955=)
c.2691G>T (p.Thr897=)
n.2842G>T
c.2688G>T (p.Thr896=)
c.2862G>T (p.Thr954=)
7g.41966208C=CA1702661173GLI3c.2865G= (p.Thr955=)
c.2691G= (p.Thr897=)
n.2842G=
c.2688G= (p.Thr896=)
c.2862G= (p.Thr954=)
7g.41966208C>GCA4230512GLI3c.2865G>C (p.Thr955=)
c.2691G>C (p.Thr897=)
n.2842G>C
c.2688G>C (p.Thr896=)
c.2862G>C (p.Thr954=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.41966208C>TCA454662221GLI3c.2865G>A (p.Thr955=)
c.2691G>A (p.Thr897=)
n.2842G>A
c.2688G>A (p.Thr896=)
c.2862G>A (p.Thr954=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.41966209G>ACA367320182GLI3c.2864C>T (p.Thr955Met)
c.2690C>T (p.Thr897Met)
n.2841C>T
c.2687C>T (p.Thr896Met)
c.2861C>T (p.Thr954Met)
dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.41966209G>CCA367320181GLI3c.2864C>G (p.Thr955Arg)
c.2690C>G (p.Thr897Arg)
n.2841C>G
c.2687C>G (p.Thr896Arg)
c.2861C>G (p.Thr954Arg)
gnomAD v4
7g.41966209G=CA1702661174GLI3c.2864C= (p.Thr955=)
c.2690C= (p.Thr897=)
n.2841C=
c.2687C= (p.Thr896=)
c.2861C= (p.Thr954=)
7g.41966209G>TCA4230513GLI3c.2864C>A (p.Thr955Lys)
c.2690C>A (p.Thr897Lys)
n.2841C>A
c.2687C>A (p.Thr896Lys)
c.2861C>A (p.Thr954Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.41966210T>ACA367320183GLI3c.2863A>T (p.Thr955Ser)
c.2689A>T (p.Thr897Ser)
n.2840A>T
c.2686A>T (p.Thr896Ser)
c.2860A>T (p.Thr954Ser)
7g.41966210T>CCA367320184GLI3c.2863A>G (p.Thr955Ala)
c.2689A>G (p.Thr897Ala)
n.2840A>G
c.2686A>G (p.Thr896Ala)
c.2860A>G (p.Thr954Ala)
7g.41966210T>GCA367320185GLI3c.2863A>C (p.Thr955Pro)
c.2689A>C (p.Thr897Pro)
n.2840A>C
c.2686A>C (p.Thr896Pro)
c.2860A>C (p.Thr954Pro)
7g.41966211C>ACA156905213GLI3c.2862G>T (p.Lys954Asn)
c.2688G>T (p.Lys896Asn)
n.2839G>T
c.2685G>T (p.Lys895Asn)
c.2859G>T (p.Lys953Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41966211C=CA1702661175GLI3c.2862G= (p.Lys954=)
c.2688G= (p.Lys896=)
n.2839G=
c.2685G= (p.Lys895=)
c.2859G= (p.Lys953=)
7g.41966211C>GCA367320186GLI3c.2862G>C (p.Lys954Asn)
c.2688G>C (p.Lys896Asn)
n.2839G>C
c.2685G>C (p.Lys895Asn)
c.2859G>C (p.Lys953Asn)
7g.41966211C>TCA454662228GLI3c.2862G>A (p.Lys954=)
c.2688G>A (p.Lys896=)
n.2839G>A
c.2685G>A (p.Lys895=)
c.2859G>A (p.Lys953=)
dbSNP
7g.41966212T>ACA367320187GLI3c.2861A>T (p.Lys954Met)
c.2687A>T (p.Lys896Met)
n.2838A>T
c.2684A>T (p.Lys895Met)
c.2858A>T (p.Lys953Met)
7g.41966212T>CCA367320188GLI3c.2861A>G (p.Lys954Arg)
c.2687A>G (p.Lys896Arg)
n.2838A>G
c.2684A>G (p.Lys895Arg)
c.2858A>G (p.Lys953Arg)
7g.41966212T>GCA367320189GLI3c.2861A>C (p.Lys954Thr)
c.2687A>C (p.Lys896Thr)
n.2838A>C
c.2684A>C (p.Lys895Thr)
c.2858A>C (p.Lys953Thr)
7g.41966213T>ACA367320190GLI3c.2860A>T (p.Lys954Ter)
c.2686A>T (p.Lys896Ter)
n.2837A>T
c.2683A>T (p.Lys895Ter)
c.2857A>T (p.Lys953Ter)
7g.41966213T>CCA367320191GLI3c.2860A>G (p.Lys954Glu)
c.2686A>G (p.Lys896Glu)
n.2837A>G
c.2683A>G (p.Lys895Glu)
c.2857A>G (p.Lys953Glu)
7g.41966213T>GCA367320192GLI3c.2860A>C (p.Lys954Gln)
c.2686A>C (p.Lys896Gln)
n.2837A>C
c.2683A>C (p.Lys895Gln)
c.2857A>C (p.Lys953Gln)
7g.41966214C>ACA454662234GLI3c.2859G>T (p.Leu953=)
c.2685G>T (p.Leu895=)
n.2836G>T
c.2682G>T (p.Leu894=)
c.2856G>T (p.Leu952=)
gnomAD v4
7g.41966214C>GCA454662235GLI3c.2859G>C (p.Leu953=)
c.2685G>C (p.Leu895=)
n.2836G>C
c.2682G>C (p.Leu894=)
c.2856G>C (p.Leu952=)
gnomAD v4
7g.41966214C>TCA454662236GLI3c.2859G>A (p.Leu953=)
c.2685G>A (p.Leu895=)
n.2836G>A
c.2682G>A (p.Leu894=)
c.2856G>A (p.Leu952=)
7g.41966215A=CA1702661176GLI3c.2858T= (p.Leu953=)
c.2684T= (p.Leu895=)
n.2835T=
c.2681T= (p.Leu894=)
c.2855T= (p.Leu952=)
7g.41966215A>CCA367320195GLI3c.2858T>G (p.Leu953Arg)
c.2684T>G (p.Leu895Arg)
n.2835T>G
c.2681T>G (p.Leu894Arg)
c.2855T>G (p.Leu952Arg)
7g.41966215A>GCA367320193GLI3c.2858T>C (p.Leu953Pro)
c.2684T>C (p.Leu895Pro)
n.2835T>C
c.2681T>C (p.Leu894Pro)
c.2855T>C (p.Leu952Pro)
dbSNP
7g.41966215A>TCA367320194GLI3c.2858T>A (p.Leu953Gln)
c.2684T>A (p.Leu895Gln)
n.2835T>A
c.2681T>A (p.Leu894Gln)
c.2855T>A (p.Leu952Gln)
dbSNP gnomAD v2 gnomAD v4
7g.41966216G>ACA454662240GLI3c.2857C>T (p.Leu953=)
c.2683C>T (p.Leu895=)
n.2834C>T
c.2680C>T (p.Leu894=)
c.2854C>T (p.Leu952=)
7g.41966216G>CCA367320196GLI3c.2857C>G (p.Leu953Val)
c.2683C>G (p.Leu895Val)
n.2834C>G
c.2680C>G (p.Leu894Val)
c.2854C>G (p.Leu952Val)
dbSNP
7g.41966216G=CA1702661177GLI3c.2857C= (p.Leu953=)
c.2683C= (p.Leu895=)
n.2834C=
c.2680C= (p.Leu894=)
c.2854C= (p.Leu952=)
7g.41966216G>TCA367320197GLI3c.2857C>A (p.Leu953Met)
c.2683C>A (p.Leu895Met)
n.2834C>A
c.2680C>A (p.Leu894Met)
c.2854C>A (p.Leu952Met)
gnomAD v4
7g.41966217G>ACA454662242GLI3c.2856C>T (p.Ser952=)
c.2682C>T (p.Ser894=)
n.2833C>T
c.2679C>T (p.Ser893=)
c.2853C>T (p.Ser951=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.41966217G>CCA367320198GLI3c.2856C>G (p.Ser952Arg)
c.2682C>G (p.Ser894Arg)
n.2833C>G
c.2679C>G (p.Ser893Arg)
c.2853C>G (p.Ser951Arg)
dbSNP gnomAD v3 gnomAD v4
7g.41966217G=CA1702661178GLI3c.2856C= (p.Ser952=)
c.2682C= (p.Ser894=)
n.2833C=
c.2679C= (p.Ser893=)
c.2853C= (p.Ser951=)
7g.41966217G>TCA367320199GLI3c.2856C>A (p.Ser952Arg)
c.2682C>A (p.Ser894Arg)
n.2833C>A
c.2679C>A (p.Ser893Arg)
c.2853C>A (p.Ser951Arg)
gnomAD v4
7g.41966218C>ACA367320200GLI3c.2855G>T (p.Ser952Ile)
c.2681G>T (p.Ser894Ile)
n.2832G>T
c.2678G>T (p.Ser893Ile)
c.2852G>T (p.Ser951Ile)
dbSNP gnomAD v3 gnomAD v4
7g.41966218C=CA1702661179GLI3c.2855G= (p.Ser952=)
c.2681G= (p.Ser894=)
n.2832G=
c.2678G= (p.Ser893=)
c.2852G= (p.Ser951=)
7g.41966218C>GCA367320201GLI3c.2855G>C (p.Ser952Thr)
c.2681G>C (p.Ser894Thr)
n.2832G>C
c.2678G>C (p.Ser893Thr)
c.2852G>C (p.Ser951Thr)
7g.41966218C>TCA367320202GLI3c.2855G>A (p.Ser952Asn)
c.2681G>A (p.Ser894Asn)
n.2832G>A
c.2678G>A (p.Ser893Asn)
c.2852G>A (p.Ser951Asn)
7g.41966219T>ACA367320203GLI3c.2854A>T (p.Ser952Cys)
c.2680A>T (p.Ser894Cys)
n.2831A>T
c.2677A>T (p.Ser893Cys)
c.2851A>T (p.Ser951Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41966219T>CCA367320204GLI3c.2854A>G (p.Ser952Gly)
c.2680A>G (p.Ser894Gly)
n.2831A>G
c.2677A>G (p.Ser893Gly)
c.2851A>G (p.Ser951Gly)
7g.41966219T>GCA367320205GLI3c.2854A>C (p.Ser952Arg)
c.2680A>C (p.Ser894Arg)
n.2831A>C
c.2677A>C (p.Ser893Arg)
c.2851A>C (p.Ser951Arg)
COSMIC
7g.41966219T=CA1702661180GLI3c.2854A= (p.Ser952=)
c.2680A= (p.Ser894=)
n.2831A=
c.2677A= (p.Ser893=)
c.2851A= (p.Ser951=)
7g.41966220C>ACA367320206GLI3c.2853G>T (p.Met951Ile)
c.2679G>T (p.Met893Ile)
n.2830G>T
c.2676G>T (p.Met892Ile)
c.2850G>T (p.Met950Ile)
dbSNP gnomAD v2 gnomAD v4
7g.41966220C=CA1702661181GLI3c.2853G= (p.Met951=)
c.2679G= (p.Met893=)
n.2830G=
c.2676G= (p.Met892=)
c.2850G= (p.Met950=)
7g.41966220C>GCA4230514GLI3c.2853G>C (p.Met951Ile)
c.2679G>C (p.Met893Ile)
n.2830G>C
c.2676G>C (p.Met892Ile)
c.2850G>C (p.Met950Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966220C>TCA367320207GLI3c.2853G>A (p.Met951Ile)
c.2679G>A (p.Met893Ile)
n.2830G>A
c.2676G>A (p.Met892Ile)
c.2850G>A (p.Met950Ile)
7g.41966221A>CCA367320210GLI3c.2852T>G (p.Met951Arg)
c.2678T>G (p.Met893Arg)
n.2829T>G
c.2675T>G (p.Met892Arg)
c.2849T>G (p.Met950Arg)
7g.41966221A>GCA367320209GLI3c.2852T>C (p.Met951Thr)
c.2678T>C (p.Met893Thr)
n.2829T>C
c.2675T>C (p.Met892Thr)
c.2849T>C (p.Met950Thr)
7g.41966221A>TCA367320208GLI3c.2852T>A (p.Met951Lys)
c.2678T>A (p.Met893Lys)
n.2829T>A
c.2675T>A (p.Met892Lys)
c.2849T>A (p.Met950Lys)
7g.41966222T>ACA367320211GLI3c.2851A>T (p.Met951Leu)
c.2677A>T (p.Met893Leu)
n.2828A>T
c.2674A>T (p.Met892Leu)
c.2848A>T (p.Met950Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.41966222T>CCA367320213GLI3c.2851A>G (p.Met951Val)
c.2677A>G (p.Met893Val)
n.2828A>G
c.2674A>G (p.Met892Val)
c.2848A>G (p.Met950Val)
COSMIC
7g.41966222T>GCA367320212GLI3c.2851A>C (p.Met951Leu)
c.2677A>C (p.Met893Leu)
n.2828A>C
c.2674A>C (p.Met892Leu)
c.2848A>C (p.Met950Leu)
7g.41966222T=CA1702661182GLI3c.2851A= (p.Met951=)
c.2677A= (p.Met893=)
n.2828A=
c.2674A= (p.Met892=)
c.2848A= (p.Met950=)
7g.41966223C>ACA367320214GLI3c.2850G>T (p.Arg950Ser)
c.2676G>T (p.Arg892Ser)
n.2827G>T
c.2673G>T (p.Arg891Ser)
c.2847G>T (p.Arg949Ser)
gnomAD v4
7g.41966223C>GCA367320215GLI3c.2850G>C (p.Arg950Ser)
c.2676G>C (p.Arg892Ser)
n.2827G>C
c.2673G>C (p.Arg891Ser)
c.2847G>C (p.Arg949Ser)
7g.41966223C>TCA454662248GLI3c.2850G>A (p.Arg950=)
c.2676G>A (p.Arg892=)
n.2827G>A
c.2673G>A (p.Arg891=)
c.2847G>A (p.Arg949=)
7g.41966224C>ACA367320216GLI3c.2849G>T (p.Arg950Met)
c.2675G>T (p.Arg892Met)
n.2826G>T
c.2672G>T (p.Arg891Met)
c.2846G>T (p.Arg949Met)
7g.41966224C=CA1702661183GLI3c.2849G= (p.Arg950=)
c.2675G= (p.Arg892=)
n.2826G=
c.2672G= (p.Arg891=)
c.2846G= (p.Arg949=)
7g.41966224C>GCA367320218GLI3c.2849G>C (p.Arg950Thr)
c.2675G>C (p.Arg892Thr)
n.2826G>C
c.2672G>C (p.Arg891Thr)
c.2846G>C (p.Arg949Thr)
gnomAD v4
7g.41966224C>TCA367320217GLI3c.2849G>A (p.Arg950Lys)
c.2675G>A (p.Arg892Lys)
n.2826G>A
c.2672G>A (p.Arg891Lys)
c.2846G>A (p.Arg949Lys)
dbSNP gnomAD v2 gnomAD v4
7g.41966225T>ACA367320219GLI3c.2848A>T (p.Arg950Trp)
c.2674A>T (p.Arg892Trp)
n.2825A>T
c.2671A>T (p.Arg891Trp)
c.2845A>T (p.Arg949Trp)
7g.41966225T>CCA367320220GLI3c.2848A>G (p.Arg950Gly)
c.2674A>G (p.Arg892Gly)
n.2825A>G
c.2671A>G (p.Arg891Gly)
c.2845A>G (p.Arg949Gly)
7g.41966225T>GCA454662250GLI3c.2848A>C (p.Arg950=)
c.2674A>C (p.Arg892=)
n.2825A>C
c.2671A>C (p.Arg891=)
c.2845A>C (p.Arg949=)
gnomAD v4
7g.41966226C>ACA367320221GLI3c.2847G>T (p.Glu949Asp)
c.2673G>T (p.Glu891Asp)
n.2824G>T
c.2670G>T (p.Glu890Asp)
c.2844G>T (p.Glu948Asp)
7g.41966226C>GCA367320222GLI3c.2847G>C (p.Glu949Asp)
c.2673G>C (p.Glu891Asp)
n.2824G>C
c.2670G>C (p.Glu890Asp)
c.2844G>C (p.Glu948Asp)
7g.41966226C>TCA454662251GLI3c.2847G>A (p.Glu949=)
c.2673G>A (p.Glu891=)
n.2824G>A
c.2670G>A (p.Glu890=)
c.2844G>A (p.Glu948=)
7g.41966227T>ACA367320223GLI3c.2846A>T (p.Glu949Val)
c.2672A>T (p.Glu891Val)
n.2823A>T
c.2669A>T (p.Glu890Val)
c.2843A>T (p.Glu948Val)
7g.41966227T>CCA367320224GLI3c.2846A>G (p.Glu949Gly)
c.2672A>G (p.Glu891Gly)
n.2823A>G
c.2669A>G (p.Glu890Gly)
c.2843A>G (p.Glu948Gly)
gnomAD v4
7g.41966227T>GCA367320225GLI3c.2846A>C (p.Glu949Ala)
c.2672A>C (p.Glu891Ala)
n.2823A>C
c.2669A>C (p.Glu890Ala)
c.2843A>C (p.Glu948Ala)
dbSNP gnomAD v3 gnomAD v4
7g.41966227T=CA1702661184GLI3c.2846A= (p.Glu949=)
c.2672A= (p.Glu891=)
n.2823A=
c.2669A= (p.Glu890=)
c.2843A= (p.Glu948=)
7g.41966228C>ACA367320226GLI3c.2845G>T (p.Glu949Ter)
c.2671G>T (p.Glu891Ter)
n.2822G>T
c.2668G>T (p.Glu890Ter)
c.2842G>T (p.Glu948Ter)
gnomAD v4
7g.41966228C=CA1702661185GLI3c.2845G= (p.Glu949=)
c.2671G= (p.Glu891=)
n.2822G=
c.2668G= (p.Glu890=)
c.2842G= (p.Glu948=)
7g.41966228C>GCA367320227GLI3c.2845G>C (p.Glu949Gln)
c.2671G>C (p.Glu891Gln)
n.2822G>C
c.2668G>C (p.Glu890Gln)
c.2842G>C (p.Glu948Gln)
7g.41966228C>TCA367320228GLI3c.2845G>A (p.Glu949Lys)
c.2671G>A (p.Glu891Lys)
n.2822G>A
c.2668G>A (p.Glu890Lys)
c.2842G>A (p.Glu948Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41966229C>ACA367320231GLI3c.2844G>T (p.Met948Ile)
c.2670G>T (p.Met890Ile)
n.2821G>T
c.2667G>T (p.Met889Ile)
c.2841G>T (p.Met947Ile)
dbSNP gnomAD v2 gnomAD v4
7g.41966229C=CA1702661186GLI3c.2844G= (p.Met948=)
c.2670G= (p.Met890=)
n.2821G=
c.2667G= (p.Met889=)
c.2841G= (p.Met947=)
7g.41966229C>GCA367320230GLI3c.2844G>C (p.Met948Ile)
c.2670G>C (p.Met890Ile)
n.2821G>C
c.2667G>C (p.Met889Ile)
c.2841G>C (p.Met947Ile)
gnomAD v4
7g.41966229C>TCA367320229GLI3c.2844G>A (p.Met948Ile)
c.2670G>A (p.Met890Ile)
n.2821G>A
c.2667G>A (p.Met889Ile)
c.2841G>A (p.Met947Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.41966230A=CA1702661187GLI3c.2843T= (p.Met948=)
c.2669T= (p.Met890=)
n.2820T=
c.2666T= (p.Met889=)
c.2840T= (p.Met947=)
7g.41966230A>CCA367320232GLI3c.2843T>G (p.Met948Arg)
c.2669T>G (p.Met890Arg)
n.2820T>G
c.2666T>G (p.Met889Arg)
c.2840T>G (p.Met947Arg)
7g.41966230A>GCA367320233GLI3c.2843T>C (p.Met948Thr)
c.2669T>C (p.Met890Thr)
n.2820T>C
c.2666T>C (p.Met889Thr)
c.2840T>C (p.Met947Thr)
dbSNP gnomAD v3 gnomAD v4
7g.41966230A>TCA367320234GLI3c.2843T>A (p.Met948Lys)
c.2669T>A (p.Met890Lys)
n.2820T>A
c.2666T>A (p.Met889Lys)
c.2840T>A (p.Met947Lys)
dbSNP gnomAD v2 gnomAD v4
7g.41966231T>ACA367320235GLI3c.2842A>T (p.Met948Leu)
c.2668A>T (p.Met890Leu)
n.2819A>T
c.2665A>T (p.Met889Leu)
c.2839A>T (p.Met947Leu)
7g.41966231T>CCA367320236GLI3c.2842A>G (p.Met948Val)
c.2668A>G (p.Met890Val)
n.2819A>G
c.2665A>G (p.Met889Val)
c.2839A>G (p.Met947Val)
dbSNP gnomAD v2 gnomAD v4
7g.41966231T>GCA367320237GLI3c.2842A>C (p.Met948Leu)
c.2668A>C (p.Met890Leu)
n.2819A>C
c.2665A>C (p.Met889Leu)
c.2839A>C (p.Met947Leu)
gnomAD v3 gnomAD v4
7g.41966231T=CA1702661188GLI3c.2842A= (p.Met948=)
c.2668A= (p.Met890=)
n.2819A=
c.2665A= (p.Met889=)
c.2839A= (p.Met947=)
7g.41966232G>ACA454662258GLI3c.2841C>T (p.Asn947=)
c.2667C>T (p.Asn889=)
n.2818C>T
c.2664C>T (p.Asn888=)
c.2838C>T (p.Asn946=)
7g.41966232G>CCA4230515GLI3c.2841C>G (p.Asn947Lys)
c.2667C>G (p.Asn889Lys)
n.2818C>G
c.2664C>G (p.Asn888Lys)
c.2838C>G (p.Asn946Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.41966232G=CA1702661189GLI3c.2841C= (p.Asn947=)
c.2667C= (p.Asn889=)
n.2818C=
c.2664C= (p.Asn888=)
c.2838C= (p.Asn946=)
7g.41966232G>TCA367320238GLI3c.2841C>A (p.Asn947Lys)
c.2667C>A (p.Asn889Lys)
n.2818C>A
c.2664C>A (p.Asn888Lys)
c.2838C>A (p.Asn946Lys)
gnomAD v4
7g.41966233T>ACA367320239GLI3c.2840A>T (p.Asn947Ile)
c.2666A>T (p.Asn889Ile)
n.2817A>T
c.2663A>T (p.Asn888Ile)
c.2837A>T (p.Asn946Ile)
7g.41966233T>CCA367320240GLI3c.2840A>G (p.Asn947Ser)
c.2666A>G (p.Asn889Ser)
n.2817A>G
c.2663A>G (p.Asn888Ser)
c.2837A>G (p.Asn946Ser)
dbSNP gnomAD v2 gnomAD v4
7g.41966233T>GCA367320241GLI3c.2840A>C (p.Asn947Thr)
c.2666A>C (p.Asn889Thr)
n.2817A>C
c.2663A>C (p.Asn888Thr)
c.2837A>C (p.Asn946Thr)
7g.41966233T=CA1702661190GLI3c.2840A= (p.Asn947=)
c.2666A= (p.Asn889=)
n.2817A=
c.2663A= (p.Asn888=)
c.2837A= (p.Asn946=)
7g.41966234T>ACA367320243GLI3c.2839A>T (p.Asn947Tyr)
c.2665A>T (p.Asn889Tyr)
n.2816A>T
c.2662A>T (p.Asn888Tyr)
c.2836A>T (p.Asn946Tyr)
7g.41966234T>CCA367320244GLI3c.2839A>G (p.Asn947Asp)
c.2665A>G (p.Asn889Asp)
n.2816A>G
c.2662A>G (p.Asn888Asp)
c.2836A>G (p.Asn946Asp)
7g.41966234T>GCA367320242GLI3c.2839A>C (p.Asn947His)
c.2665A>C (p.Asn889His)
n.2816A>C
c.2662A>C (p.Asn888His)
c.2836A>C (p.Asn946His)
7g.41966235G>ACA454662262GLI3c.2838C>T (p.Pro946=)
c.2664C>T (p.Pro888=)
n.2815C>T
c.2661C>T (p.Pro887=)
c.2835C>T (p.Pro945=)
7g.41966235G>CCA454662263GLI3c.2838C>G (p.Pro946=)
c.2664C>G (p.Pro888=)
n.2815C>G
c.2661C>G (p.Pro887=)
c.2835C>G (p.Pro945=)
7g.41966235G>TCA454662264GLI3c.2838C>A (p.Pro946=)
c.2664C>A (p.Pro888=)
n.2815C>A
c.2661C>A (p.Pro887=)
c.2835C>A (p.Pro945=)
gnomAD v4
7g.41966236G>ACA367320245GLI3c.2837C>T (p.Pro946Leu)
c.2663C>T (p.Pro888Leu)
n.2814C>T
c.2660C>T (p.Pro887Leu)
c.2834C>T (p.Pro945Leu)
dbSNP
7g.41966236G>CCA367320246GLI3c.2837C>G (p.Pro946Arg)
c.2663C>G (p.Pro888Arg)
n.2814C>G
c.2660C>G (p.Pro887Arg)
c.2834C>G (p.Pro945Arg)
7g.41966236G=CA1702661191GLI3c.2837C= (p.Pro946=)
c.2663C= (p.Pro888=)
n.2814C=
c.2660C= (p.Pro887=)
c.2834C= (p.Pro945=)
7g.41966236G>TCA367320247GLI3c.2837C>A (p.Pro946His)
c.2663C>A (p.Pro888His)
n.2814C>A
c.2660C>A (p.Pro887His)
c.2834C>A (p.Pro945His)
7g.41966237G>ACA367320248GLI3c.2836C>T (p.Pro946Ser)
c.2662C>T (p.Pro888Ser)
n.2813C>T
c.2659C>T (p.Pro887Ser)
c.2833C>T (p.Pro945Ser)
gnomAD v4
7g.41966237G>CCA367320249GLI3c.2836C>G (p.Pro946Ala)
c.2662C>G (p.Pro888Ala)
n.2813C>G
c.2659C>G (p.Pro887Ala)
c.2833C>G (p.Pro945Ala)
7g.41966237G>TCA367320250GLI3c.2836C>A (p.Pro946Thr)
c.2662C>A (p.Pro888Thr)
n.2813C>A
c.2659C>A (p.Pro887Thr)
c.2833C>A (p.Pro945Thr)
gnomAD v4
7g.41966238C>ACA454662265GLI3c.2835G>T (p.Leu945=)
c.2661G>T (p.Leu887=)
n.2812G>T
c.2658G>T (p.Leu886=)
c.2832G>T (p.Leu944=)
7g.41966238C=CA1702661192GLI3c.2835G= (p.Leu945=)
c.2661G= (p.Leu887=)
n.2812G=
c.2658G= (p.Leu886=)
c.2832G= (p.Leu944=)
7g.41966238C>GCA201194GLI3c.2835G>C (p.Leu945=)
c.2661G>C (p.Leu887=)
n.2812G>C
c.2658G>C (p.Leu886=)
c.2832G>C (p.Leu944=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966238C>TCA454662266GLI3c.2835G>A (p.Leu945=)
c.2661G>A (p.Leu887=)
n.2812G>A
c.2658G>A (p.Leu886=)
c.2832G>A (p.Leu944=)
gnomAD v4
7g.41966239A>CCA367320251GLI3c.2834T>G (p.Leu945Arg)
c.2660T>G (p.Leu887Arg)
n.2811T>G
c.2657T>G (p.Leu886Arg)
c.2831T>G (p.Leu944Arg)
7g.41966239A>GCA367320252GLI3c.2834T>C (p.Leu945Pro)
c.2660T>C (p.Leu887Pro)
n.2811T>C
c.2657T>C (p.Leu886Pro)
c.2831T>C (p.Leu944Pro)
COSMIC
7g.41966239A>TCA367320253GLI3c.2834T>A (p.Leu945Gln)
c.2660T>A (p.Leu887Gln)
n.2811T>A
c.2657T>A (p.Leu886Gln)
c.2831T>A (p.Leu944Gln)
7g.41966240G>ACA454662269GLI3c.2833C>T (p.Leu945=)
c.2659C>T (p.Leu887=)
n.2810C>T
c.2656C>T (p.Leu886=)
c.2830C>T (p.Leu944=)
dbSNP gnomAD v2 gnomAD v4
7g.41966240G>CCA156905222GLI3c.2833C>G (p.Leu945Val)
c.2659C>G (p.Leu887Val)
n.2810C>G
c.2656C>G (p.Leu886Val)
c.2830C>G (p.Leu944Val)
dbSNP
7g.41966240G=CA1702661193GLI3c.2833C= (p.Leu945=)
c.2659C= (p.Leu887=)
n.2810C=
c.2656C= (p.Leu886=)
c.2830C= (p.Leu944=)
7g.41966240G>TCA367320254GLI3c.2833C>A (p.Leu945Met)
c.2659C>A (p.Leu887Met)
n.2810C>A
c.2656C>A (p.Leu886Met)
c.2830C>A (p.Leu944Met)
gnomAD v4
7g.41966241G>ACA454662272GLI3c.2832C>T (p.Pro944=)
c.2658C>T (p.Pro886=)
n.2809C>T
c.2655C>T (p.Pro885=)
c.2829C>T (p.Pro943=)
7g.41966241G>CCA4230516GLI3c.2832C>G (p.Pro944=)
c.2658C>G (p.Pro886=)
n.2809C>G
c.2655C>G (p.Pro885=)
c.2829C>G (p.Pro943=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966241G=CA1702661194GLI3c.2832C= (p.Pro944=)
c.2658C= (p.Pro886=)
n.2809C=
c.2655C= (p.Pro885=)
c.2829C= (p.Pro943=)
7g.41966241G>TCA454662275GLI3c.2832C>A (p.Pro944=)
c.2658C>A (p.Pro886=)
n.2809C>A
c.2655C>A (p.Pro885=)
c.2829C>A (p.Pro943=)
gnomAD v4
7g.41966242G>ACA367320257GLI3c.2831C>T (p.Pro944Leu)
c.2657C>T (p.Pro886Leu)
n.2808C>T
c.2654C>T (p.Pro885Leu)
c.2828C>T (p.Pro943Leu)
COSMIC
7g.41966242G>CCA367320256GLI3c.2831C>G (p.Pro944Arg)
c.2657C>G (p.Pro886Arg)
n.2808C>G
c.2654C>G (p.Pro885Arg)
c.2828C>G (p.Pro943Arg)
7g.41966242G>TCA367320255GLI3c.2831C>A (p.Pro944His)
c.2657C>A (p.Pro886His)
n.2808C>A
c.2654C>A (p.Pro885His)
c.2828C>A (p.Pro943His)
7g.41966243G>ACA367320258GLI3c.2830C>T (p.Pro944Ser)
c.2656C>T (p.Pro886Ser)
n.2807C>T
c.2653C>T (p.Pro885Ser)
c.2827C>T (p.Pro943Ser)
gnomAD v4
7g.41966243G>CCA367320259GLI3c.2830C>G (p.Pro944Ala)
c.2656C>G (p.Pro886Ala)
n.2807C>G
c.2653C>G (p.Pro885Ala)
c.2827C>G (p.Pro943Ala)
7g.41966243G>TCA367320260GLI3c.2830C>A (p.Pro944Thr)
c.2656C>A (p.Pro886Thr)
n.2807C>A
c.2653C>A (p.Pro885Thr)
c.2827C>A (p.Pro943Thr)
7g.41966244C>ACA454662279GLI3c.2829G>T (p.Thr943=)
c.2655G>T (p.Thr885=)
n.2806G>T
c.2652G>T (p.Thr884=)
c.2826G>T (p.Thr942=)
gnomAD v4
7g.41966244C=CA1702661195GLI3c.2829G= (p.Thr943=)
c.2655G= (p.Thr885=)
n.2806G=
c.2652G= (p.Thr884=)
c.2826G= (p.Thr942=)
7g.41966244C>GCA454662280GLI3c.2829G>C (p.Thr943=)
c.2655G>C (p.Thr885=)
n.2806G>C
c.2652G>C (p.Thr884=)
c.2826G>C (p.Thr942=)
7g.41966244C>TCA4230517GLI3c.2829G>A (p.Thr943=)
c.2655G>A (p.Thr885=)
n.2806G>A
c.2652G>A (p.Thr884=)
c.2826G>A (p.Thr942=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966245G>ACA4230518GLI3c.2828C>T (p.Thr943Met)
c.2654C>T (p.Thr885Met)
n.2805C>T
c.2651C>T (p.Thr884Met)
c.2825C>T (p.Thr942Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.41966245G>CCA367320261GLI3c.2828C>G (p.Thr943Arg)
c.2654C>G (p.Thr885Arg)
n.2805C>G
c.2651C>G (p.Thr884Arg)
c.2825C>G (p.Thr942Arg)
7g.41966245G=CA1702661196GLI3c.2828C= (p.Thr943=)
c.2654C= (p.Thr885=)
n.2805C=
c.2651C= (p.Thr884=)
c.2825C= (p.Thr942=)
7g.41966245G>TCA367320262GLI3c.2828C>A (p.Thr943Lys)
c.2654C>A (p.Thr885Lys)
n.2805C>A
c.2651C>A (p.Thr884Lys)
c.2825C>A (p.Thr942Lys)
dbSNP gnomAD v3 gnomAD v4
7g.41966246T>ACA367320263GLI3c.2827A>T (p.Thr943Ser)
c.2653A>T (p.Thr885Ser)
n.2804A>T
c.2650A>T (p.Thr884Ser)
c.2824A>T (p.Thr942Ser)
gnomAD v4
7g.41966246T>CCA367320264GLI3c.2827A>G (p.Thr943Ala)
c.2653A>G (p.Thr885Ala)
n.2804A>G
c.2650A>G (p.Thr884Ala)
c.2824A>G (p.Thr942Ala)
7g.41966246T>GCA367320265GLI3c.2827A>C (p.Thr943Pro)
c.2653A>C (p.Thr885Pro)
n.2804A>C
c.2650A>C (p.Thr884Pro)
c.2824A>C (p.Thr942Pro)
dbSNP gnomAD v4
7g.41966246T=CA1702661197GLI3c.2827A= (p.Thr943=)
c.2653A= (p.Thr885=)
n.2804A=
c.2650A= (p.Thr884=)
c.2824A= (p.Thr942=)
7g.41966247C>ACA4230519GLI3c.2826G>T (p.Pro942=)
c.2652G>T (p.Pro884=)
n.2803G>T
c.2649G>T (p.Pro883=)
c.2823G>T (p.Pro941=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966247C=CA1702661198GLI3c.2826G= (p.Pro942=)
c.2652G= (p.Pro884=)
n.2803G=
c.2649G= (p.Pro883=)
c.2823G= (p.Pro941=)
7g.41966247C>GCA201190GLI3c.2826G>C (p.Pro942=)
c.2652G>C (p.Pro884=)
n.2803G>C
c.2649G>C (p.Pro883=)
c.2823G>C (p.Pro941=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966247C>TCA156905271GLI3c.2826G>A (p.Pro942=)
c.2652G>A (p.Pro884=)
n.2803G>A
c.2649G>A (p.Pro883=)
c.2823G>A (p.Pro941=)
dbSNP gnomAD v4
7g.41966248G>ACA367320268GLI3c.2825C>T (p.Pro942Leu)
c.2651C>T (p.Pro884Leu)
n.2802C>T
c.2648C>T (p.Pro883Leu)
c.2822C>T (p.Pro941Leu)
dbSNP gnomAD v2 gnomAD v4
7g.41966248G>CCA367320267GLI3c.2825C>G (p.Pro942Arg)
c.2651C>G (p.Pro884Arg)
n.2802C>G
c.2648C>G (p.Pro883Arg)
c.2822C>G (p.Pro941Arg)
dbSNP gnomAD v2 gnomAD v4
7g.41966248G=CA1702661199GLI3c.2825C= (p.Pro942=)
c.2651C= (p.Pro884=)
n.2802C=
c.2648C= (p.Pro883=)
c.2822C= (p.Pro941=)
7g.41966248G>TCA367320266GLI3c.2825C>A (p.Pro942Gln)
c.2651C>A (p.Pro884Gln)
n.2802C>A
c.2648C>A (p.Pro883Gln)
c.2822C>A (p.Pro941Gln)
gnomAD v4
7g.41966249G>ACA367320269GLI3c.2824C>T (p.Pro942Ser)
c.2650C>T (p.Pro884Ser)
n.2801C>T
c.2647C>T (p.Pro883Ser)
c.2821C>T (p.Pro941Ser)
gnomAD v4
7g.41966249G>CCA367320270GLI3c.2824C>G (p.Pro942Ala)
c.2650C>G (p.Pro884Ala)
n.2801C>G
c.2647C>G (p.Pro883Ala)
c.2821C>G (p.Pro941Ala)
7g.41966249G>TCA367320271GLI3c.2824C>A (p.Pro942Thr)
c.2650C>A (p.Pro884Thr)
n.2801C>A
c.2647C>A (p.Pro883Thr)
c.2821C>A (p.Pro941Thr)
gnomAD v4
7g.41966250C>ACA454662288GLI3c.2823G>T (p.Pro941=)
c.2649G>T (p.Pro883=)
n.2800G>T
c.2646G>T (p.Pro882=)
c.2820G>T (p.Pro940=)
dbSNP gnomAD v3 gnomAD v4
7g.41966250C=CA1702661200GLI3c.2823G= (p.Pro941=)
c.2649G= (p.Pro883=)
n.2800G=
c.2646G= (p.Pro882=)
c.2820G= (p.Pro940=)
7g.41966250C>GCA454662289GLI3c.2823G>C (p.Pro941=)
c.2649G>C (p.Pro883=)
n.2800G>C
c.2646G>C (p.Pro882=)
c.2820G>C (p.Pro940=)
7g.41966250C>TCA454662290GLI3c.2823G>A (p.Pro941=)
c.2649G>A (p.Pro883=)
n.2800G>A
c.2646G>A (p.Pro882=)
c.2820G>A (p.Pro940=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.41966251G>ACA367320272GLI3c.2822C>T (p.Pro941Leu)
c.2648C>T (p.Pro883Leu)
n.2799C>T
c.2645C>T (p.Pro882Leu)
c.2819C>T (p.Pro940Leu)
dbSNP gnomAD v2 gnomAD v4
7g.41966251G>CCA367320273GLI3c.2822C>G (p.Pro941Arg)
c.2648C>G (p.Pro883Arg)
n.2799C>G
c.2645C>G (p.Pro882Arg)
c.2819C>G (p.Pro940Arg)
7g.41966251G=CA1702661201GLI3c.2822C= (p.Pro941=)
c.2648C= (p.Pro883=)
n.2799C=
c.2645C= (p.Pro882=)
c.2819C= (p.Pro940=)
7g.41966251G>TCA367320274GLI3c.2822C>A (p.Pro941Gln)
c.2648C>A (p.Pro883Gln)
n.2799C>A
c.2645C>A (p.Pro882Gln)
c.2819C>A (p.Pro940Gln)
7g.41966252G>ACA367320277GLI3c.2821C>T (p.Pro941Ser)
c.2647C>T (p.Pro883Ser)
n.2798C>T
c.2644C>T (p.Pro882Ser)
c.2818C>T (p.Pro940Ser)
gnomAD v4
7g.41966252G>CCA367320276GLI3c.2821C>G (p.Pro941Ala)
c.2647C>G (p.Pro883Ala)
n.2798C>G
c.2644C>G (p.Pro882Ala)
c.2818C>G (p.Pro940Ala)
7g.41966252G>TCA367320275GLI3c.2821C>A (p.Pro941Thr)
c.2647C>A (p.Pro883Thr)
n.2798C>A
c.2644C>A (p.Pro882Thr)
c.2818C>A (p.Pro940Thr)
gnomAD v4
7g.41966253C>ACA454662297GLI3c.2820G>T (p.Pro940=)
c.2646G>T (p.Pro882=)
n.2797G>T
c.2643G>T (p.Pro881=)
c.2817G>T (p.Pro939=)
7g.41966253C=CA1702661202GLI3c.2820G= (p.Pro940=)
c.2646G= (p.Pro882=)
n.2797G=
c.2643G= (p.Pro881=)
c.2817G= (p.Pro939=)
7g.41966253C>GCA454662295GLI3c.2820G>C (p.Pro940=)
c.2646G>C (p.Pro882=)
n.2797G>C
c.2643G>C (p.Pro881=)
c.2817G>C (p.Pro939=)
dbSNP
7g.41966253C>TCA454662296GLI3c.2820G>A (p.Pro940=)
c.2646G>A (p.Pro882=)
n.2797G>A
c.2643G>A (p.Pro881=)
c.2817G>A (p.Pro939=)
dbSNP gnomAD v2 gnomAD v4
7g.41966254G>ACA367320278GLI3c.2819C>T (p.Pro940Leu)
c.2645C>T (p.Pro882Leu)
n.2796C>T
c.2642C>T (p.Pro881Leu)
c.2816C>T (p.Pro939Leu)
dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.41966254G>CCA367320279GLI3c.2819C>G (p.Pro940Arg)
c.2645C>G (p.Pro882Arg)
n.2796C>G
c.2642C>G (p.Pro881Arg)
c.2816C>G (p.Pro939Arg)
7g.41966254G=CA1702661203GLI3c.2819C= (p.Pro940=)
c.2645C= (p.Pro882=)
n.2796C=
c.2642C= (p.Pro881=)
c.2816C= (p.Pro939=)
7g.41966254G>TCA367320280GLI3c.2819C>A (p.Pro940Gln)
c.2645C>A (p.Pro882Gln)
n.2796C>A
c.2642C>A (p.Pro881Gln)
c.2816C>A (p.Pro939Gln)
gnomAD v4
7g.41966255G>ACA367320281GLI3c.2818C>T (p.Pro940Ser)
c.2644C>T (p.Pro882Ser)
n.2795C>T
c.2641C>T (p.Pro881Ser)
c.2815C>T (p.Pro939Ser)
dbSNP gnomAD v2 gnomAD v4
7g.41966255G>CCA367320282GLI3c.2818C>G (p.Pro940Ala)
c.2644C>G (p.Pro882Ala)
n.2795C>G
c.2641C>G (p.Pro881Ala)
c.2815C>G (p.Pro939Ala)
7g.41966255G=CA1702661204GLI3c.2818C= (p.Pro940=)
c.2644C= (p.Pro882=)
n.2795C=
c.2641C= (p.Pro881=)
c.2815C= (p.Pro939=)
7g.41966255G>TCA367320283GLI3c.2818C>A (p.Pro940Thr)
c.2644C>A (p.Pro882Thr)
n.2795C>A
c.2641C>A (p.Pro881Thr)
c.2815C>A (p.Pro939Thr)
gnomAD v4 COSMIC
7g.41966256C>ACA454662302GLI3c.2817G>T (p.Gly939=)
c.2643G>T (p.Gly881=)
n.2794G>T
c.2640G>T (p.Gly880=)
c.2814G>T (p.Gly938=)
7g.41966256C=CA1702661205GLI3c.2817G= (p.Gly939=)
c.2643G= (p.Gly881=)
n.2794G=
c.2640G= (p.Gly880=)
c.2814G= (p.Gly938=)
7g.41966256C>GCA454662303GLI3c.2817G>C (p.Gly939=)
c.2643G>C (p.Gly881=)
n.2794G>C
c.2640G>C (p.Gly880=)
c.2814G>C (p.Gly938=)
7g.41966256C>TCA454662304GLI3c.2817G>A (p.Gly939=)
c.2643G>A (p.Gly881=)
n.2794G>A
c.2640G>A (p.Gly880=)
c.2814G>A (p.Gly938=)
dbSNP gnomAD v2 gnomAD v4
7g.41966257C>ACA367320284GLI3c.2816G>T (p.Gly939Val)
c.2642G>T (p.Gly881Val)
n.2793G>T
c.2639G>T (p.Gly880Val)
c.2813G>T (p.Gly938Val)
7g.41966257C>GCA367320286GLI3c.2816G>C (p.Gly939Ala)
c.2642G>C (p.Gly881Ala)
n.2793G>C
c.2639G>C (p.Gly880Ala)
c.2813G>C (p.Gly938Ala)
7g.41966257C>TCA367320285GLI3c.2816G>A (p.Gly939Glu)
c.2642G>A (p.Gly881Glu)
n.2793G>A
c.2639G>A (p.Gly880Glu)
c.2813G>A (p.Gly938Glu)
gnomAD v4
7g.41966258C>ACA367320287GLI3c.2815G>T (p.Gly939Trp)
c.2641G>T (p.Gly881Trp)
n.2792G>T
c.2638G>T (p.Gly880Trp)
c.2812G>T (p.Gly938Trp)
gnomAD v4
7g.41966258C=CA1702661206GLI3c.2815G= (p.Gly939=)
c.2641G= (p.Gly881=)
n.2792G=
c.2638G= (p.Gly880=)
c.2812G= (p.Gly938=)
7g.41966258C>GCA367320288GLI3c.2815G>C (p.Gly939Arg)
c.2641G>C (p.Gly881Arg)
n.2792G>C
c.2638G>C (p.Gly880Arg)
c.2812G>C (p.Gly938Arg)
7g.41966258C>TCA367320289GLI3c.2815G>A (p.Gly939Arg)
c.2641G>A (p.Gly881Arg)
n.2792G>A
c.2638G>A (p.Gly880Arg)
c.2812G>A (p.Gly938Arg)
dbSNP gnomAD v2 gnomAD v4
7g.41966259T>ACA454662313GLI3c.2814A>T (p.Gly938=)
c.2640A>T (p.Gly880=)
n.2791A>T
c.2637A>T (p.Gly879=)
c.2811A>T (p.Gly937=)
7g.41966259T>CCA454662314GLI3c.2814A>G (p.Gly938=)
c.2640A>G (p.Gly880=)
n.2791A>G
c.2637A>G (p.Gly879=)
c.2811A>G (p.Gly937=)
dbSNP gnomAD v2 gnomAD v4
7g.41966259T>GCA454662315GLI3c.2814A>C (p.Gly938=)
c.2640A>C (p.Gly880=)
n.2791A>C
c.2637A>C (p.Gly879=)
c.2811A>C (p.Gly937=)
7g.41966259T=CA1702661207GLI3c.2814A= (p.Gly938=)
c.2640A= (p.Gly880=)
n.2791A=
c.2637A= (p.Gly879=)
c.2811A= (p.Gly937=)
7g.41966260C>ACA367320290GLI3c.2813G>T (p.Gly938Val)
c.2639G>T (p.Gly880Val)
n.2790G>T
c.2636G>T (p.Gly879Val)
c.2810G>T (p.Gly937Val)
7g.41966260C>GCA367320291GLI3c.2813G>C (p.Gly938Ala)
c.2639G>C (p.Gly880Ala)
n.2790G>C
c.2636G>C (p.Gly879Ala)
c.2810G>C (p.Gly937Ala)
7g.41966260C>TCA367320292GLI3c.2813G>A (p.Gly938Glu)
c.2639G>A (p.Gly880Glu)
n.2790G>A
c.2636G>A (p.Gly879Glu)
c.2810G>A (p.Gly937Glu)
7g.41966261C>ACA367320293GLI3c.2812G>T (p.Gly938Ter)
c.2638G>T (p.Gly880Ter)
n.2789G>T
c.2635G>T (p.Gly879Ter)
c.2809G>T (p.Gly937Ter)
7g.41966261C>GCA367320294GLI3c.2812G>C (p.Gly938Arg)
c.2638G>C (p.Gly880Arg)
n.2789G>C
c.2635G>C (p.Gly879Arg)
c.2809G>C (p.Gly937Arg)
7g.41966261C>TCA367320295GLI3c.2812G>A (p.Gly938Arg)
c.2638G>A (p.Gly880Arg)
n.2789G>A
c.2635G>A (p.Gly879Arg)
c.2809G>A (p.Gly937Arg)
7g.41966262T>ACA454662322GLI3c.2811A>T (p.Thr937=)
c.2637A>T (p.Thr879=)
n.2788A>T
c.2634A>T (p.Thr878=)
c.2808A>T (p.Thr936=)
gnomAD v4
7g.41966262T>CCA454662323GLI3c.2811A>G (p.Thr937=)
c.2637A>G (p.Thr879=)
n.2788A>G
c.2634A>G (p.Thr878=)
c.2808A>G (p.Thr936=)
7g.41966262T>GCA454662324GLI3c.2811A>C (p.Thr937=)
c.2637A>C (p.Thr879=)
n.2788A>C
c.2634A>C (p.Thr878=)
c.2808A>C (p.Thr936=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.41966262T=CA1702661208GLI3c.2811A= (p.Thr937=)
c.2637A= (p.Thr879=)
n.2788A=
c.2634A= (p.Thr878=)
c.2808A= (p.Thr936=)
7g.41966263G>ACA367320296GLI3c.2810C>T (p.Thr937Ile)
c.2636C>T (p.Thr879Ile)
n.2787C>T
c.2633C>T (p.Thr878Ile)
c.2807C>T (p.Thr936Ile)
gnomAD v4
7g.41966263G>CCA367320297GLI3c.2810C>G (p.Thr937Arg)
c.2636C>G (p.Thr879Arg)
n.2787C>G
c.2633C>G (p.Thr878Arg)
c.2807C>G (p.Thr936Arg)
7g.41966263G>TCA367320298GLI3c.2810C>A (p.Thr937Lys)
c.2636C>A (p.Thr879Lys)
n.2787C>A
c.2633C>A (p.Thr878Lys)
c.2807C>A (p.Thr936Lys)
gnomAD v4
7g.41966264T>ACA367320299GLI3c.2809A>T (p.Thr937Ser)
c.2635A>T (p.Thr879Ser)
n.2786A>T
c.2632A>T (p.Thr878Ser)
c.2806A>T (p.Thr936Ser)
7g.41966264T>CCA367320301GLI3c.2809A>G (p.Thr937Ala)
c.2635A>G (p.Thr879Ala)
n.2786A>G
c.2632A>G (p.Thr878Ala)
c.2806A>G (p.Thr936Ala)
7g.41966264T>GCA367320300GLI3c.2809A>C (p.Thr937Pro)
c.2635A>C (p.Thr879Pro)
n.2786A>C
c.2632A>C (p.Thr878Pro)
c.2806A>C (p.Thr936Pro)
7g.41966265G>ACA454662327GLI3c.2808C>T (p.Ala936=)
c.2634C>T (p.Ala878=)
n.2785C>T
c.2631C>T (p.Ala877=)
c.2805C>T (p.Ala935=)
7g.41966265G>CCA454662330GLI3c.2808C>G (p.Ala936=)
c.2634C>G (p.Ala878=)
n.2785C>G
c.2631C>G (p.Ala877=)
c.2805C>G (p.Ala935=)
7g.41966265G>TCA454662333GLI3c.2808C>A (p.Ala936=)
c.2634C>A (p.Ala878=)
n.2785C>A
c.2631C>A (p.Ala877=)
c.2805C>A (p.Ala935=)
7g.41966266G>ACA367320302GLI3c.2807C>T (p.Ala936Val)
c.2633C>T (p.Ala878Val)
n.2784C>T
c.2630C>T (p.Ala877Val)
c.2804C>T (p.Ala935Val)
gnomAD v4
7g.41966266G>CCA367320303GLI3c.2807C>G (p.Ala936Gly)
c.2633C>G (p.Ala878Gly)
n.2784C>G
c.2630C>G (p.Ala877Gly)
c.2804C>G (p.Ala935Gly)
7g.41966266G>TCA367320304GLI3c.2807C>A (p.Ala936Asp)
c.2633C>A (p.Ala878Asp)
n.2784C>A
c.2630C>A (p.Ala877Asp)
c.2804C>A (p.Ala935Asp)
gnomAD v4
7g.41966267C>ACA367320305GLI3c.2806G>T (p.Ala936Ser)
c.2632G>T (p.Ala878Ser)
n.2783G>T
c.2629G>T (p.Ala877Ser)
c.2803G>T (p.Ala935Ser)
gnomAD v4
7g.41966267C>GCA367320306GLI3c.2806G>C (p.Ala936Pro)
c.2632G>C (p.Ala878Pro)
n.2783G>C
c.2629G>C (p.Ala877Pro)
c.2803G>C (p.Ala935Pro)
7g.41966267C>TCA367320307GLI3c.2806G>A (p.Ala936Thr)
c.2632G>A (p.Ala878Thr)
n.2783G>A
c.2629G>A (p.Ala877Thr)
c.2803G>A (p.Ala935Thr)
gnomAD v4
7g.41966268A>CCA454662337GLI3c.2805T>G (p.Ala935=)
c.2631T>G (p.Ala877=)
n.2782T>G
c.2628T>G (p.Ala876=)
c.2802T>G (p.Ala934=)
7g.41966268A>GCA454662338GLI3c.2805T>C (p.Ala935=)
c.2631T>C (p.Ala877=)
n.2782T>C
c.2628T>C (p.Ala876=)
c.2802T>C (p.Ala934=)
7g.41966268A>TCA454662339GLI3c.2805T>A (p.Ala935=)
c.2631T>A (p.Ala877=)
n.2782T>A
c.2628T>A (p.Ala876=)
c.2802T>A (p.Ala934=)
7g.41966269G>ACA367320308GLI3c.2804C>T (p.Ala935Val)
c.2630C>T (p.Ala877Val)
n.2781C>T
c.2627C>T (p.Ala876Val)
c.2801C>T (p.Ala934Val)
gnomAD v4
7g.41966269G>CCA367320309GLI3c.2804C>G (p.Ala935Gly)
c.2630C>G (p.Ala877Gly)
n.2781C>G
c.2627C>G (p.Ala876Gly)
c.2801C>G (p.Ala934Gly)
7g.41966269G=CA1702661209GLI3c.2804C= (p.Ala935=)
c.2630C= (p.Ala877=)
n.2781C=
c.2627C= (p.Ala876=)
c.2801C= (p.Ala934=)
7g.41966269G>TCA367320310GLI3c.2804C>A (p.Ala935Asp)
c.2630C>A (p.Ala877Asp)
n.2781C>A
c.2627C>A (p.Ala876Asp)
c.2801C>A (p.Ala934Asp)
dbSNP gnomAD v2 gnomAD v4
7g.41966270C>ACA367320311GLI3c.2803G>T (p.Ala935Ser)
c.2629G>T (p.Ala877Ser)
n.2780G>T
c.2626G>T (p.Ala876Ser)
c.2800G>T (p.Ala934Ser)
COSMIC
7g.41966270C=CA1702661210GLI3c.2803G= (p.Ala935=)
c.2629G= (p.Ala877=)
n.2780G=
c.2626G= (p.Ala876=)
c.2800G= (p.Ala934=)
7g.41966270C>GCA367320312GLI3c.2803G>C (p.Ala935Pro)
c.2629G>C (p.Ala877Pro)
n.2780G>C
c.2626G>C (p.Ala876Pro)
c.2800G>C (p.Ala934Pro)
dbSNP gnomAD v2
7g.41966270C>TCA4230520GLI3c.2803G>A (p.Ala935Thr)
c.2629G>A (p.Ala877Thr)
n.2780G>A
c.2626G>A (p.Ala876Thr)
c.2800G>A (p.Ala934Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966270_41966275dupCA2580077126GLI3c.2798_2803dup (p.Ala934_Ala935insAspAla)
c.2624_2629dup (p.Ala876_Ala877insAspAla)
n.2775_2780dup
c.2621_2626dup (p.Ala875_Ala876insAspAla)
c.2795_2800dup (p.Ala933_Ala934insAspAla)
ClinVar
7g.41966271C>ACA454662344GLI3c.2802G>T (p.Ala934=)
c.2628G>T (p.Ala876=)
n.2779G>T
c.2625G>T (p.Ala875=)
c.2799G>T (p.Ala933=)
7g.41966271C=CA1702661211GLI3c.2802G= (p.Ala934=)
c.2628G= (p.Ala876=)
n.2779G=
c.2625G= (p.Ala875=)
c.2799G= (p.Ala933=)
7g.41966271C>GCA454662346GLI3c.2802G>C (p.Ala934=)
c.2628G>C (p.Ala876=)
n.2779G>C
c.2625G>C (p.Ala875=)
c.2799G>C (p.Ala933=)
dbSNP gnomAD v4
7g.41966271C>TCA4230521GLI3c.2802G>A (p.Ala934=)
c.2628G>A (p.Ala876=)
n.2779G>A
c.2625G>A (p.Ala875=)
c.2799G>A (p.Ala933=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.41966272G>ACA4230522GLI3c.2801C>T (p.Ala934Val)
c.2627C>T (p.Ala876Val)
n.2778C>T
c.2624C>T (p.Ala875Val)
c.2798C>T (p.Ala933Val)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.41966272G>CCA367320314GLI3c.2801C>G (p.Ala934Gly)
c.2627C>G (p.Ala876Gly)
n.2778C>G
c.2624C>G (p.Ala875Gly)
c.2798C>G (p.Ala933Gly)
7g.41966272G=CA1702661212GLI3c.2801C= (p.Ala934=)
c.2627C= (p.Ala876=)
n.2778C=
c.2624C= (p.Ala875=)
c.2798C= (p.Ala933=)
7g.41966272G>TCA367320313GLI3c.2801C>A (p.Ala934Glu)
c.2627C>A (p.Ala876Glu)
n.2778C>A
c.2624C>A (p.Ala875Glu)
c.2798C>A (p.Ala933Glu)
gnomAD v4
7g.41966273C>ACA367320315GLI3c.2800G>T (p.Ala934Ser)
c.2626G>T (p.Ala876Ser)
n.2777G>T
c.2623G>T (p.Ala875Ser)
c.2797G>T (p.Ala933Ser)
7g.41966273C=CA1702661213GLI3c.2800G= (p.Ala934=)
c.2626G= (p.Ala876=)
n.2777G=
c.2623G= (p.Ala875=)
c.2797G= (p.Ala933=)
7g.41966273C>GCA130192GLI3c.2800G>C (p.Ala934Pro)
c.2626G>C (p.Ala876Pro)
n.2777G>C
c.2623G>C (p.Ala875Pro)
c.2797G>C (p.Ala933Pro)
ClinVar dbSNP
7g.41966273C>TCA367320316GLI3c.2800G>A (p.Ala934Thr)
c.2626G>A (p.Ala876Thr)
n.2777G>A
c.2623G>A (p.Ala875Thr)
c.2797G>A (p.Ala933Thr)
gnomAD v4
7g.41966274delCA2695207660GLI3c.2799del (p.Tyr933Ter)
c.2625del (p.Tyr875Ter)
n.2776del
c.2622del (p.Tyr874Ter)
c.2796del (p.Tyr932Ter)
7g.41966274G>ACA454662354GLI3c.2799C>T (p.Tyr933=)
c.2625C>T (p.Tyr875=)
n.2776C>T
c.2622C>T (p.Tyr874=)
c.2796C>T (p.Tyr932=)
gnomAD v4 COSMIC
7g.41966274G>CCA342936GLI3c.2799C>G (p.Tyr933Ter)
c.2625C>G (p.Tyr875Ter)
n.2776C>G
c.2622C>G (p.Tyr874Ter)
c.2796C>G (p.Tyr932Ter)
dbSNP
7g.41966274G=CA1702661214GLI3c.2799C= (p.Tyr933=)
c.2625C= (p.Tyr875=)
n.2776C=
c.2622C= (p.Tyr874=)
c.2796C= (p.Tyr932=)
7g.41966274G>TCA367320317GLI3c.2799C>A (p.Tyr933Ter)
c.2625C>A (p.Tyr875Ter)
n.2776C>A
c.2622C>A (p.Tyr874Ter)
c.2796C>A (p.Tyr932Ter)
gnomAD v4

Number of alleles fetched