Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.41966174C>A | CA367320027 | GLI3 | c.2899G>T (p.Gly967Cys) c.2725G>T (p.Gly909Cys) n.2876G>T c.2722G>T (p.Gly908Cys) c.2896G>T (p.Gly966Cys) | gnomAD v4 |
7 | g.41966174C>G | CA367320028 | GLI3 | c.2899G>C (p.Gly967Arg) c.2725G>C (p.Gly909Arg) n.2876G>C c.2722G>C (p.Gly908Arg) c.2896G>C (p.Gly966Arg) | |
7 | g.41966174C>T | CA367320030 | GLI3 | c.2899G>A (p.Gly967Ser) c.2725G>A (p.Gly909Ser) n.2876G>A c.2722G>A (p.Gly908Ser) c.2896G>A (p.Gly966Ser) | gnomAD v4 |
7 | g.41966175del | CA2499393374 | GLI3 | c.2898del (p.Gly967AlafsTer?) c.2724del (p.Gly909AlafsTer?) n.2875del c.2721del (p.Gly908AlafsTer?) c.2895del (p.Gly966AlafsTer?) | |
7 | g.41966175A>C | CA454662160 | GLI3 | c.2898T>G (p.Pro966=) c.2724T>G (p.Pro908=) n.2875T>G c.2721T>G (p.Pro907=) c.2895T>G (p.Pro965=) | |
7 | g.41966175A>G | CA454662161 | GLI3 | c.2898T>C (p.Pro966=) c.2724T>C (p.Pro908=) n.2875T>C c.2721T>C (p.Pro907=) c.2895T>C (p.Pro965=) | gnomAD v4 |
7 | g.41966175A>T | CA454662162 | GLI3 | c.2898T>A (p.Pro966=) c.2724T>A (p.Pro908=) n.2875T>A c.2721T>A (p.Pro907=) c.2895T>A (p.Pro965=) | |
7 | g.41966176G>A | CA367320034 | GLI3 | c.2897C>T (p.Pro966Leu) c.2723C>T (p.Pro908Leu) n.2874C>T c.2720C>T (p.Pro907Leu) c.2894C>T (p.Pro965Leu) | gnomAD v4 |
7 | g.41966176G>C | CA367320036 | GLI3 | c.2897C>G (p.Pro966Arg) c.2723C>G (p.Pro908Arg) n.2874C>G c.2720C>G (p.Pro907Arg) c.2894C>G (p.Pro965Arg) | gnomAD v4 |
7 | g.41966176G>T | CA367320038 | GLI3 | c.2897C>A (p.Pro966His) c.2723C>A (p.Pro908His) n.2874C>A c.2720C>A (p.Pro907His) c.2894C>A (p.Pro965His) | gnomAD v4 |
7 | g.41966177G>A | CA367320040 | GLI3 | c.2896C>T (p.Pro966Ser) c.2722C>T (p.Pro908Ser) n.2873C>T c.2719C>T (p.Pro907Ser) c.2893C>T (p.Pro965Ser) | |
7 | g.41966177G>C | CA367320042 | GLI3 | c.2896C>G (p.Pro966Ala) c.2722C>G (p.Pro908Ala) n.2873C>G c.2719C>G (p.Pro907Ala) c.2893C>G (p.Pro965Ala) | |
7 | g.41966177G= | CA1702661151 | GLI3 | c.2896C= (p.Pro966=) c.2722C= (p.Pro908=) n.2873C= c.2719C= (p.Pro907=) c.2893C= (p.Pro965=) | |
7 | g.41966177G>T | CA367320044 | GLI3 | c.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 |
7 | g.41966178C>A | CA367320047 | GLI3 | c.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 |
7 | g.41966178C= | CA1702661152 | GLI3 | c.2895G= (p.Glu965=) c.2721G= (p.Glu907=) n.2872G= c.2718G= (p.Glu906=) c.2892G= (p.Glu964=) | |
7 | g.41966178C>G | CA367320048 | GLI3 | c.2895G>C (p.Glu965Asp) c.2721G>C (p.Glu907Asp) n.2872G>C c.2718G>C (p.Glu906Asp) c.2892G>C (p.Glu964Asp) | |
7 | g.41966178C>T | CA454662165 | GLI3 | c.2895G>A (p.Glu965=) c.2721G>A (p.Glu907=) n.2872G>A c.2718G>A (p.Glu906=) c.2892G>A (p.Glu964=) | gnomAD v4 |
7 | g.41966179T>A | CA367320056 | GLI3 | c.2894A>T (p.Glu965Val) c.2720A>T (p.Glu907Val) n.2871A>T c.2717A>T (p.Glu906Val) c.2891A>T (p.Glu964Val) | |
7 | g.41966179T>C | CA367320054 | GLI3 | c.2894A>G (p.Glu965Gly) c.2720A>G (p.Glu907Gly) n.2871A>G c.2717A>G (p.Glu906Gly) c.2891A>G (p.Glu964Gly) | gnomAD v4 |
7 | g.41966179T>G | CA367320052 | GLI3 | c.2894A>C (p.Glu965Ala) c.2720A>C (p.Glu907Ala) n.2871A>C c.2717A>C (p.Glu906Ala) c.2891A>C (p.Glu964Ala) | |
7 | g.41966180C>A | CA367320059 | GLI3 | c.2893G>T (p.Glu965Ter) c.2719G>T (p.Glu907Ter) n.2870G>T c.2716G>T (p.Glu906Ter) c.2890G>T (p.Glu964Ter) | gnomAD v4 |
7 | g.41966180C= | CA1702661153 | GLI3 | c.2893G= (p.Glu965=) c.2719G= (p.Glu907=) n.2870G= c.2716G= (p.Glu906=) c.2890G= (p.Glu964=) | |
7 | g.41966180C>G | CA367320061 | GLI3 | c.2893G>C (p.Glu965Gln) c.2719G>C (p.Glu907Gln) n.2870G>C c.2716G>C (p.Glu906Gln) c.2890G>C (p.Glu964Gln) | gnomAD v4 |
7 | g.41966180C>T | CA367320063 | GLI3 | c.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 |
7 | g.41966181G>A | CA156905082 | GLI3 | c.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 |
7 | g.41966181G>C | CA454662167 | GLI3 | c.2892C>G (p.Leu964=) c.2718C>G (p.Leu906=) n.2869C>G c.2715C>G (p.Leu905=) c.2889C>G (p.Leu963=) | gnomAD v4 |
7 | g.41966181G= | CA1702661154 | GLI3 | c.2892C= (p.Leu964=) c.2718C= (p.Leu906=) n.2869C= c.2715C= (p.Leu905=) c.2889C= (p.Leu963=) | |
7 | g.41966181G>T | CA454662170 | GLI3 | c.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 |
7 | g.41966182del | CA2682510162 | GLI3 | c.2891del (p.Leu964ProfsTer?) c.2717del (p.Leu906ProfsTer?) n.2868del c.2714del (p.Leu905ProfsTer?) c.2888del (p.Leu963ProfsTer?) | gnomAD v4 |
7 | g.41966182A= | CA1702661155 | GLI3 | c.2891T= (p.Leu964=) c.2717T= (p.Leu906=) n.2868T= c.2714T= (p.Leu905=) c.2888T= (p.Leu963=) | |
7 | g.41966182A>C | CA367320067 | GLI3 | c.2891T>G (p.Leu964Arg) c.2717T>G (p.Leu906Arg) n.2868T>G c.2714T>G (p.Leu905Arg) c.2888T>G (p.Leu963Arg) | |
7 | g.41966182A>G | CA367320068 | GLI3 | c.2891T>C (p.Leu964Pro) c.2717T>C (p.Leu906Pro) n.2868T>C c.2714T>C (p.Leu905Pro) c.2888T>C (p.Leu963Pro) | dbSNP |
7 | g.41966182A>T | CA367320070 | GLI3 | c.2891T>A (p.Leu964His) c.2717T>A (p.Leu906His) n.2868T>A c.2714T>A (p.Leu905His) c.2888T>A (p.Leu963His) | |
7 | g.41966183G>A | CA367320072 | GLI3 | c.2890C>T (p.Leu964Phe) c.2716C>T (p.Leu906Phe) n.2867C>T c.2713C>T (p.Leu905Phe) c.2887C>T (p.Leu963Phe) | |
7 | g.41966183G>C | CA367320074 | GLI3 | c.2890C>G (p.Leu964Val) c.2716C>G (p.Leu906Val) n.2867C>G c.2713C>G (p.Leu905Val) c.2887C>G (p.Leu963Val) | |
7 | g.41966183G>T | CA367320076 | GLI3 | c.2890C>A (p.Leu964Ile) c.2716C>A (p.Leu906Ile) n.2867C>A c.2713C>A (p.Leu905Ile) c.2887C>A (p.Leu963Ile) | gnomAD v4 |
7 | g.41966185del | CA2682510163 | GLI3 | c.2890del (p.Leu964SerfsTer?) c.2716del (p.Leu906SerfsTer?) n.2867del c.2713del (p.Leu905SerfsTer?) c.2887del (p.Leu963SerfsTer?) | gnomAD v4 |
7 | g.41966184G>A | CA454662172 | GLI3 | c.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 |
7 | g.41966184G>C | CA4230503 | GLI3 | c.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 |
7 | g.41966184G= | CA1702661156 | GLI3 | c.2889C= (p.Ala963=) c.2715C= (p.Ala905=) n.2866C= c.2712C= (p.Ala904=) c.2886C= (p.Ala962=) | |
7 | g.41966184G>T | CA454662175 | GLI3 | c.2889C>A (p.Ala963=) c.2715C>A (p.Ala905=) n.2866C>A c.2712C>A (p.Ala904=) c.2886C>A (p.Ala962=) | gnomAD v4 |
7 | g.41966185G>A | CA4230504 | GLI3 | c.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 |
7 | g.41966185G>C | CA367320081 | GLI3 | c.2888C>G (p.Ala963Gly) c.2714C>G (p.Ala905Gly) n.2865C>G c.2711C>G (p.Ala904Gly) c.2885C>G (p.Ala962Gly) | |
7 | g.41966185G= | CA1702661157 | GLI3 | c.2888C= (p.Ala963=) c.2714C= (p.Ala905=) n.2865C= c.2711C= (p.Ala904=) c.2885C= (p.Ala962=) | |
7 | g.41966185G>T | CA367320082 | GLI3 | c.2888C>A (p.Ala963Asp) c.2714C>A (p.Ala905Asp) n.2865C>A c.2711C>A (p.Ala904Asp) c.2885C>A (p.Ala962Asp) | gnomAD v4 |
7 | g.41966186C>A | CA367320090 | GLI3 | c.2887G>T (p.Ala963Ser) c.2713G>T (p.Ala905Ser) n.2864G>T c.2710G>T (p.Ala904Ser) c.2884G>T (p.Ala962Ser) | gnomAD v4 |
7 | g.41966186C= | CA1702661158 | GLI3 | c.2887G= (p.Ala963=) c.2713G= (p.Ala905=) n.2864G= c.2710G= (p.Ala904=) c.2884G= (p.Ala962=) | |
7 | g.41966186C>G | CA367320085 | GLI3 | c.2887G>C (p.Ala963Pro) c.2713G>C (p.Ala905Pro) n.2864G>C c.2710G>C (p.Ala904Pro) c.2884G>C (p.Ala962Pro) | |
7 | g.41966186C>T | CA4230505 | GLI3 | c.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 |
7 | g.41966187A>C | CA367320092 | GLI3 | c.2886T>G (p.Asp962Glu) c.2712T>G (p.Asp904Glu) n.2863T>G c.2709T>G (p.Asp903Glu) c.2883T>G (p.Asp961Glu) | |
7 | g.41966187A>G | CA454662179 | GLI3 | c.2886T>C (p.Asp962=) c.2712T>C (p.Asp904=) n.2863T>C c.2709T>C (p.Asp903=) c.2883T>C (p.Asp961=) | |
7 | g.41966187A>T | CA367320093 | GLI3 | c.2886T>A (p.Asp962Glu) c.2712T>A (p.Asp904Glu) n.2863T>A c.2709T>A (p.Asp903Glu) c.2883T>A (p.Asp961Glu) | |
7 | g.41966188T>A | CA367320094 | GLI3 | c.2885A>T (p.Asp962Val) c.2711A>T (p.Asp904Val) n.2862A>T c.2708A>T (p.Asp903Val) c.2882A>T (p.Asp961Val) | |
7 | g.41966188T>C | CA367320095 | GLI3 | c.2885A>G (p.Asp962Gly) c.2711A>G (p.Asp904Gly) n.2862A>G c.2708A>G (p.Asp903Gly) c.2882A>G (p.Asp961Gly) | gnomAD v4 |
7 | g.41966188T>G | CA367320098 | GLI3 | c.2885A>C (p.Asp962Ala) c.2711A>C (p.Asp904Ala) n.2862A>C c.2708A>C (p.Asp903Ala) c.2882A>C (p.Asp961Ala) | |
7 | g.41966189C>A | CA367320101 | GLI3 | c.2884G>T (p.Asp962Tyr) c.2710G>T (p.Asp904Tyr) n.2861G>T c.2707G>T (p.Asp903Tyr) c.2881G>T (p.Asp961Tyr) | |
7 | g.41966189C= | CA1702661159 | GLI3 | c.2884G= (p.Asp962=) c.2710G= (p.Asp904=) n.2861G= c.2707G= (p.Asp903=) c.2881G= (p.Asp961=) | |
7 | g.41966189C>G | CA367320103 | GLI3 | c.2884G>C (p.Asp962His) c.2710G>C (p.Asp904His) n.2861G>C c.2707G>C (p.Asp903His) c.2881G>C (p.Asp961His) | ClinVar |
7 | g.41966189C>T | CA367320105 | GLI3 | c.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 |
7 | g.41966192del | CA2695207654 | GLI3 | c.2884del (p.Asp962MetfsTer?) c.2710del (p.Asp904MetfsTer?) n.2861del c.2707del (p.Asp903MetfsTer?) c.2881del (p.Asp961MetfsTer?) | |
7 | g.41966190C>A | CA156905139 | GLI3 | c.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 |
7 | g.41966190C= | CA1702661160 | GLI3 | c.2883G= (p.Gly961=) c.2709G= (p.Gly903=) n.2860G= c.2706G= (p.Gly902=) c.2880G= (p.Gly960=) | |
7 | g.41966190C>G | CA454662183 | GLI3 | c.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 |
7 | g.41966190C>T | CA454662184 | GLI3 | c.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 |
7 | g.41966191C>A | CA367320109 | GLI3 | c.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 |
7 | g.41966191C= | CA1702661161 | GLI3 | c.2882G= (p.Gly961=) c.2708G= (p.Gly903=) n.2859G= c.2705G= (p.Gly902=) c.2879G= (p.Gly960=) | |
7 | g.41966191C>G | CA367320110 | GLI3 | c.2882G>C (p.Gly961Ala) c.2708G>C (p.Gly903Ala) n.2859G>C c.2705G>C (p.Gly902Ala) c.2879G>C (p.Gly960Ala) | gnomAD v4 |
7 | g.41966191C>T | CA367320113 | GLI3 | c.2882G>A (p.Gly961Glu) c.2708G>A (p.Gly903Glu) n.2859G>A c.2705G>A (p.Gly902Glu) c.2879G>A (p.Gly960Glu) | gnomAD v4 |
7 | g.41966192C>A | CA367320119 | GLI3 | c.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 |
7 | g.41966192C= | CA1702661162 | GLI3 | c.2881G= (p.Gly961=) c.2707G= (p.Gly903=) n.2858G= c.2704G= (p.Gly902=) c.2878G= (p.Gly960=) | |
7 | g.41966192C>G | CA367320117 | GLI3 | c.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 |
7 | g.41966192C>T | CA4230506 | GLI3 | c.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 |
7 | g.41966193G>A | CA4230507 | GLI3 | c.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 |
7 | g.41966193G>C | CA454662189 | GLI3 | c.2880C>G (p.Leu960=) c.2706C>G (p.Leu902=) n.2857C>G c.2703C>G (p.Leu901=) c.2877C>G (p.Leu959=) | gnomAD v4 |
7 | g.41966193G= | CA1702661163 | GLI3 | c.2880C= (p.Leu960=) c.2706C= (p.Leu902=) n.2857C= c.2703C= (p.Leu901=) c.2877C= (p.Leu959=) | |
7 | g.41966193G>T | CA454662192 | GLI3 | c.2880C>A (p.Leu960=) c.2706C>A (p.Leu902=) n.2857C>A c.2703C>A (p.Leu901=) c.2877C>A (p.Leu959=) | gnomAD v4 |
7 | g.41966194_41966198dup | CA2740097348 | GLI3 | c.2876_2880dup (p.Gly961CysfsTer?) c.2702_2706dup (p.Gly903CysfsTer?) n.2853_2857dup c.2699_2703dup (p.Gly902CysfsTer?) c.2873_2877dup (p.Gly960CysfsTer?) | ClinVar |
7 | g.41966194A>C | CA367320128 | GLI3 | c.2879T>G (p.Leu960Arg) c.2705T>G (p.Leu902Arg) n.2856T>G c.2702T>G (p.Leu901Arg) c.2876T>G (p.Leu959Arg) | |
7 | g.41966194A>G | CA367320124 | GLI3 | c.2879T>C (p.Leu960Pro) c.2705T>C (p.Leu902Pro) n.2856T>C c.2702T>C (p.Leu901Pro) c.2876T>C (p.Leu959Pro) | COSMIC |
7 | g.41966194A>T | CA367320126 | GLI3 | c.2879T>A (p.Leu960His) c.2705T>A (p.Leu902His) n.2856T>A c.2702T>A (p.Leu901His) c.2876T>A (p.Leu959His) | |
7 | g.41966194_41966199delinsAGCAGC | CA1702661164 | GLI3 | c.2874_2879delinsGCTGCT (p.Ala958=) c.2700_2705delinsGCTGCT (p.Ala900=) n.2851_2856delinsGCTGCT c.2697_2702delinsGCTGCT (p.Ala899=) c.2871_2876delinsGCTGCT (p.Ala957=) | |
7 | g.41966195G>A | CA367320131 | GLI3 | c.2878C>T (p.Leu960Phe) c.2704C>T (p.Leu902Phe) n.2855C>T c.2701C>T (p.Leu901Phe) c.2875C>T (p.Leu959Phe) | gnomAD v4 |
7 | g.41966195G>C | CA367320133 | GLI3 | c.2878C>G (p.Leu960Val) c.2704C>G (p.Leu902Val) n.2855C>G c.2701C>G (p.Leu901Val) c.2875C>G (p.Leu959Val) | |
7 | g.41966195G>T | CA367320135 | GLI3 | c.2878C>A (p.Leu960Ile) c.2704C>A (p.Leu902Ile) n.2855C>A c.2701C>A (p.Leu901Ile) c.2875C>A (p.Leu959Ile) | gnomAD v4 |
7 | g.41966197_41966201del | CA917990642 | GLI3 | c.2874_2878del (p.Leu959ArgfsTer?) c.2700_2704del (p.Leu901ArgfsTer?) n.2851_2855del c.2697_2701del (p.Leu900ArgfsTer?) c.2871_2875del (p.Leu958ArgfsTer?) | dbSNP |
7 | g.41966196C>A | CA4230508 | GLI3 | c.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 |
7 | g.41966196C= | CA1702661165 | GLI3 | c.2877G= (p.Leu959=) c.2703G= (p.Leu901=) n.2854G= c.2700G= (p.Leu900=) c.2874G= (p.Leu958=) | |
7 | g.41966196C>G | CA454662193 | GLI3 | c.2877G>C (p.Leu959=) c.2703G>C (p.Leu901=) n.2854G>C c.2700G>C (p.Leu900=) c.2874G>C (p.Leu958=) | |
7 | g.41966196C>T | CA454662195 | GLI3 | c.2877G>A (p.Leu959=) c.2703G>A (p.Leu901=) n.2854G>A c.2700G>A (p.Leu900=) c.2874G>A (p.Leu958=) | gnomAD v4 |
7 | g.41966197A>C | CA367320144 | GLI3 | c.2876T>G (p.Leu959Arg) c.2702T>G (p.Leu901Arg) n.2853T>G c.2699T>G (p.Leu900Arg) c.2873T>G (p.Leu958Arg) | |
7 | g.41966197A>G | CA367320140 | GLI3 | c.2876T>C (p.Leu959Pro) c.2702T>C (p.Leu901Pro) n.2853T>C c.2699T>C (p.Leu900Pro) c.2873T>C (p.Leu958Pro) | |
7 | g.41966197A>T | CA367320142 | GLI3 | c.2876T>A (p.Leu959Gln) c.2702T>A (p.Leu901Gln) n.2853T>A c.2699T>A (p.Leu900Gln) c.2873T>A (p.Leu958Gln) | |
7 | g.41966198G>A | CA454662199 | GLI3 | c.2875C>T (p.Leu959=) c.2701C>T (p.Leu901=) n.2852C>T c.2698C>T (p.Leu900=) c.2872C>T (p.Leu958=) | gnomAD v4 |
7 | g.41966198G>C | CA4230509 | GLI3 | c.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 |
7 | g.41966198G= | CA1702661166 | GLI3 | c.2875C= (p.Leu959=) c.2701C= (p.Leu901=) n.2852C= c.2698C= (p.Leu900=) c.2872C= (p.Leu958=) | |
7 | g.41966198G>T | CA367320148 | GLI3 | c.2875C>A (p.Leu959Met) c.2701C>A (p.Leu901Met) n.2852C>A c.2698C>A (p.Leu900Met) c.2872C>A (p.Leu958Met) | gnomAD v4 |
7 | g.41966199C>A | CA454662200 | GLI3 | c.2874G>T (p.Ala958=) c.2700G>T (p.Ala900=) n.2851G>T c.2697G>T (p.Ala899=) c.2871G>T (p.Ala957=) | gnomAD v4 |
7 | g.41966199C>G | CA454662201 | GLI3 | c.2874G>C (p.Ala958=) c.2700G>C (p.Ala900=) n.2851G>C c.2697G>C (p.Ala899=) c.2871G>C (p.Ala957=) | gnomAD v4 |
7 | g.41966199C>T | CA454662203 | GLI3 | c.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 |
7 | g.41966200G>A | CA4230510 | GLI3 | c.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 |
7 | g.41966200G>C | CA367320151 | GLI3 | c.2873C>G (p.Ala958Gly) c.2699C>G (p.Ala900Gly) n.2850C>G c.2696C>G (p.Ala899Gly) c.2870C>G (p.Ala957Gly) | |
7 | g.41966200G= | CA1702661167 | GLI3 | c.2873C= (p.Ala958=) c.2699C= (p.Ala900=) n.2850C= c.2696C= (p.Ala899=) c.2870C= (p.Ala957=) | |
7 | g.41966200G>T | CA367320153 | GLI3 | c.2873C>A (p.Ala958Glu) c.2699C>A (p.Ala900Glu) n.2850C>A c.2696C>A (p.Ala899Glu) c.2870C>A (p.Ala957Glu) | gnomAD v4 |
7 | g.41966201C>A | CA367320156 | GLI3 | c.2872G>T (p.Ala958Ser) c.2698G>T (p.Ala900Ser) n.2849G>T c.2695G>T (p.Ala899Ser) c.2869G>T (p.Ala957Ser) | |
7 | g.41966201C>G | CA367320160 | GLI3 | c.2872G>C (p.Ala958Pro) c.2698G>C (p.Ala900Pro) n.2849G>C c.2695G>C (p.Ala899Pro) c.2869G>C (p.Ala957Pro) | |
7 | g.41966201C>T | CA367320158 | GLI3 | c.2872G>A (p.Ala958Thr) c.2698G>A (p.Ala900Thr) n.2849G>A c.2695G>A (p.Ala899Thr) c.2869G>A (p.Ala957Thr) | |
7 | g.41966202C>A | CA454662208 | GLI3 | c.2871G>T (p.Leu957=) c.2697G>T (p.Leu899=) n.2848G>T c.2694G>T (p.Leu898=) c.2868G>T (p.Leu956=) | |
7 | g.41966202C>G | CA454662210 | GLI3 | c.2871G>C (p.Leu957=) c.2697G>C (p.Leu899=) n.2848G>C c.2694G>C (p.Leu898=) c.2868G>C (p.Leu956=) | |
7 | g.41966202C>T | CA454662213 | GLI3 | c.2871G>A (p.Leu957=) c.2697G>A (p.Leu899=) n.2848G>A c.2694G>A (p.Leu898=) c.2868G>A (p.Leu956=) | gnomAD v4 |
7 | g.41966203A= | CA1702661168 | GLI3 | c.2870T= (p.Leu957=) c.2696T= (p.Leu899=) n.2847T= c.2693T= (p.Leu898=) c.2867T= (p.Leu956=) | |
7 | g.41966203A>C | CA367320164 | GLI3 | c.2870T>G (p.Leu957Arg) c.2696T>G (p.Leu899Arg) n.2847T>G c.2693T>G (p.Leu898Arg) c.2867T>G (p.Leu956Arg) | gnomAD v4 |
7 | g.41966203A>G | CA367320165 | GLI3 | c.2870T>C (p.Leu957Pro) c.2696T>C (p.Leu899Pro) n.2847T>C c.2693T>C (p.Leu898Pro) c.2867T>C (p.Leu956Pro) | gnomAD v4 |
7 | g.41966203A>T | CA367320166 | GLI3 | c.2870T>A (p.Leu957Gln) c.2696T>A (p.Leu899Gln) n.2847T>A c.2693T>A (p.Leu898Gln) c.2867T>A (p.Leu956Gln) | dbSNP |
7 | g.41966204G>A | CA454662216 | GLI3 | c.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 |
7 | g.41966204G>C | CA367320169 | GLI3 | c.2869C>G (p.Leu957Val) c.2695C>G (p.Leu899Val) n.2846C>G c.2692C>G (p.Leu898Val) c.2866C>G (p.Leu956Val) | |
7 | g.41966204G= | CA1702661169 | GLI3 | c.2869C= (p.Leu957=) c.2695C= (p.Leu899=) n.2846C= c.2692C= (p.Leu898=) c.2866C= (p.Leu956=) | |
7 | g.41966204G>T | CA367320171 | GLI3 | c.2869C>A (p.Leu957Met) c.2695C>A (p.Leu899Met) n.2846C>A c.2692C>A (p.Leu898Met) c.2866C>A (p.Leu956Met) | gnomAD v4 |
7 | g.41966205G>A | CA156905179 | GLI3 | c.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 |
7 | g.41966205G>C | CA454662218 | GLI3 | c.2868C>G (p.Arg956=) c.2694C>G (p.Arg898=) n.2845C>G c.2691C>G (p.Arg897=) c.2865C>G (p.Arg955=) | |
7 | g.41966205G= | CA1702661170 | GLI3 | c.2868C= (p.Arg956=) c.2694C= (p.Arg898=) n.2845C= c.2691C= (p.Arg897=) c.2865C= (p.Arg955=) | |
7 | g.41966205G>T | CA454662217 | GLI3 | c.2868C>A (p.Arg956=) c.2694C>A (p.Arg898=) n.2845C>A c.2691C>A (p.Arg897=) c.2865C>A (p.Arg955=) | gnomAD v4 |
7 | g.41966206del | CA2695207657 | GLI3 | c.2867del (p.Arg956ProfsTer?) c.2693del (p.Arg898ProfsTer?) n.2844del c.2690del (p.Arg897ProfsTer?) c.2864del (p.Arg955ProfsTer?) | |
7 | g.41966206C>A | CA4230511 | GLI3 | c.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 |
7 | g.41966206C= | CA1702661171 | GLI3 | c.2867G= (p.Arg956=) c.2693G= (p.Arg898=) n.2844G= c.2690G= (p.Arg897=) c.2864G= (p.Arg955=) | |
7 | g.41966206C>G | CA367320175 | GLI3 | c.2867G>C (p.Arg956Pro) c.2693G>C (p.Arg898Pro) n.2844G>C c.2690G>C (p.Arg897Pro) c.2864G>C (p.Arg955Pro) | gnomAD v4 |
7 | g.41966206C>T | CA367320177 | GLI3 | c.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 |
7 | g.41966207G>A | CA367320178 | GLI3 | c.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 |
7 | g.41966207G>C | CA367320179 | GLI3 | c.2866C>G (p.Arg956Gly) c.2692C>G (p.Arg898Gly) n.2843C>G c.2689C>G (p.Arg897Gly) c.2863C>G (p.Arg955Gly) | |
7 | g.41966207G= | CA1702661172 | GLI3 | c.2866C= (p.Arg956=) c.2692C= (p.Arg898=) n.2843C= c.2689C= (p.Arg897=) c.2863C= (p.Arg955=) | |
7 | g.41966207G>T | CA367320180 | GLI3 | c.2866C>A (p.Arg956Ser) c.2692C>A (p.Arg898Ser) n.2843C>A c.2689C>A (p.Arg897Ser) c.2863C>A (p.Arg955Ser) | gnomAD v4 |
7 | g.41966208C>A | CA454662222 | GLI3 | c.2865G>T (p.Thr955=) c.2691G>T (p.Thr897=) n.2842G>T c.2688G>T (p.Thr896=) c.2862G>T (p.Thr954=) | |
7 | g.41966208C= | CA1702661173 | GLI3 | c.2865G= (p.Thr955=) c.2691G= (p.Thr897=) n.2842G= c.2688G= (p.Thr896=) c.2862G= (p.Thr954=) | |
7 | g.41966208C>G | CA4230512 | GLI3 | c.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 |
7 | g.41966208C>T | CA454662221 | GLI3 | c.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 |
7 | g.41966209G>A | CA367320182 | GLI3 | c.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 |
7 | g.41966209G>C | CA367320181 | GLI3 | c.2864C>G (p.Thr955Arg) c.2690C>G (p.Thr897Arg) n.2841C>G c.2687C>G (p.Thr896Arg) c.2861C>G (p.Thr954Arg) | gnomAD v4 |
7 | g.41966209G= | CA1702661174 | GLI3 | c.2864C= (p.Thr955=) c.2690C= (p.Thr897=) n.2841C= c.2687C= (p.Thr896=) c.2861C= (p.Thr954=) | |
7 | g.41966209G>T | CA4230513 | GLI3 | c.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 |
7 | g.41966210T>A | CA367320183 | GLI3 | c.2863A>T (p.Thr955Ser) c.2689A>T (p.Thr897Ser) n.2840A>T c.2686A>T (p.Thr896Ser) c.2860A>T (p.Thr954Ser) | |
7 | g.41966210T>C | CA367320184 | GLI3 | c.2863A>G (p.Thr955Ala) c.2689A>G (p.Thr897Ala) n.2840A>G c.2686A>G (p.Thr896Ala) c.2860A>G (p.Thr954Ala) | |
7 | g.41966210T>G | CA367320185 | GLI3 | c.2863A>C (p.Thr955Pro) c.2689A>C (p.Thr897Pro) n.2840A>C c.2686A>C (p.Thr896Pro) c.2860A>C (p.Thr954Pro) | |
7 | g.41966211C>A | CA156905213 | GLI3 | c.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 |
7 | g.41966211C= | CA1702661175 | GLI3 | c.2862G= (p.Lys954=) c.2688G= (p.Lys896=) n.2839G= c.2685G= (p.Lys895=) c.2859G= (p.Lys953=) | |
7 | g.41966211C>G | CA367320186 | GLI3 | c.2862G>C (p.Lys954Asn) c.2688G>C (p.Lys896Asn) n.2839G>C c.2685G>C (p.Lys895Asn) c.2859G>C (p.Lys953Asn) | |
7 | g.41966211C>T | CA454662228 | GLI3 | c.2862G>A (p.Lys954=) c.2688G>A (p.Lys896=) n.2839G>A c.2685G>A (p.Lys895=) c.2859G>A (p.Lys953=) | dbSNP |
7 | g.41966212T>A | CA367320187 | GLI3 | c.2861A>T (p.Lys954Met) c.2687A>T (p.Lys896Met) n.2838A>T c.2684A>T (p.Lys895Met) c.2858A>T (p.Lys953Met) | |
7 | g.41966212T>C | CA367320188 | GLI3 | c.2861A>G (p.Lys954Arg) c.2687A>G (p.Lys896Arg) n.2838A>G c.2684A>G (p.Lys895Arg) c.2858A>G (p.Lys953Arg) | |
7 | g.41966212T>G | CA367320189 | GLI3 | c.2861A>C (p.Lys954Thr) c.2687A>C (p.Lys896Thr) n.2838A>C c.2684A>C (p.Lys895Thr) c.2858A>C (p.Lys953Thr) | |
7 | g.41966213T>A | CA367320190 | GLI3 | c.2860A>T (p.Lys954Ter) c.2686A>T (p.Lys896Ter) n.2837A>T c.2683A>T (p.Lys895Ter) c.2857A>T (p.Lys953Ter) | |
7 | g.41966213T>C | CA367320191 | GLI3 | c.2860A>G (p.Lys954Glu) c.2686A>G (p.Lys896Glu) n.2837A>G c.2683A>G (p.Lys895Glu) c.2857A>G (p.Lys953Glu) | |
7 | g.41966213T>G | CA367320192 | GLI3 | c.2860A>C (p.Lys954Gln) c.2686A>C (p.Lys896Gln) n.2837A>C c.2683A>C (p.Lys895Gln) c.2857A>C (p.Lys953Gln) | |
7 | g.41966214C>A | CA454662234 | GLI3 | c.2859G>T (p.Leu953=) c.2685G>T (p.Leu895=) n.2836G>T c.2682G>T (p.Leu894=) c.2856G>T (p.Leu952=) | gnomAD v4 |
7 | g.41966214C>G | CA454662235 | GLI3 | c.2859G>C (p.Leu953=) c.2685G>C (p.Leu895=) n.2836G>C c.2682G>C (p.Leu894=) c.2856G>C (p.Leu952=) | gnomAD v4 |
7 | g.41966214C>T | CA454662236 | GLI3 | c.2859G>A (p.Leu953=) c.2685G>A (p.Leu895=) n.2836G>A c.2682G>A (p.Leu894=) c.2856G>A (p.Leu952=) | |
7 | g.41966215A= | CA1702661176 | GLI3 | c.2858T= (p.Leu953=) c.2684T= (p.Leu895=) n.2835T= c.2681T= (p.Leu894=) c.2855T= (p.Leu952=) | |
7 | g.41966215A>C | CA367320195 | GLI3 | c.2858T>G (p.Leu953Arg) c.2684T>G (p.Leu895Arg) n.2835T>G c.2681T>G (p.Leu894Arg) c.2855T>G (p.Leu952Arg) | |
7 | g.41966215A>G | CA367320193 | GLI3 | c.2858T>C (p.Leu953Pro) c.2684T>C (p.Leu895Pro) n.2835T>C c.2681T>C (p.Leu894Pro) c.2855T>C (p.Leu952Pro) | dbSNP |
7 | g.41966215A>T | CA367320194 | GLI3 | c.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 |
7 | g.41966216G>A | CA454662240 | GLI3 | c.2857C>T (p.Leu953=) c.2683C>T (p.Leu895=) n.2834C>T c.2680C>T (p.Leu894=) c.2854C>T (p.Leu952=) | |
7 | g.41966216G>C | CA367320196 | GLI3 | c.2857C>G (p.Leu953Val) c.2683C>G (p.Leu895Val) n.2834C>G c.2680C>G (p.Leu894Val) c.2854C>G (p.Leu952Val) | dbSNP |
7 | g.41966216G= | CA1702661177 | GLI3 | c.2857C= (p.Leu953=) c.2683C= (p.Leu895=) n.2834C= c.2680C= (p.Leu894=) c.2854C= (p.Leu952=) | |
7 | g.41966216G>T | CA367320197 | GLI3 | c.2857C>A (p.Leu953Met) c.2683C>A (p.Leu895Met) n.2834C>A c.2680C>A (p.Leu894Met) c.2854C>A (p.Leu952Met) | gnomAD v4 |
7 | g.41966217G>A | CA454662242 | GLI3 | c.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 |
7 | g.41966217G>C | CA367320198 | GLI3 | c.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 |
7 | g.41966217G= | CA1702661178 | GLI3 | c.2856C= (p.Ser952=) c.2682C= (p.Ser894=) n.2833C= c.2679C= (p.Ser893=) c.2853C= (p.Ser951=) | |
7 | g.41966217G>T | CA367320199 | GLI3 | c.2856C>A (p.Ser952Arg) c.2682C>A (p.Ser894Arg) n.2833C>A c.2679C>A (p.Ser893Arg) c.2853C>A (p.Ser951Arg) | gnomAD v4 |
7 | g.41966218C>A | CA367320200 | GLI3 | c.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 |
7 | g.41966218C= | CA1702661179 | GLI3 | c.2855G= (p.Ser952=) c.2681G= (p.Ser894=) n.2832G= c.2678G= (p.Ser893=) c.2852G= (p.Ser951=) | |
7 | g.41966218C>G | CA367320201 | GLI3 | c.2855G>C (p.Ser952Thr) c.2681G>C (p.Ser894Thr) n.2832G>C c.2678G>C (p.Ser893Thr) c.2852G>C (p.Ser951Thr) | |
7 | g.41966218C>T | CA367320202 | GLI3 | c.2855G>A (p.Ser952Asn) c.2681G>A (p.Ser894Asn) n.2832G>A c.2678G>A (p.Ser893Asn) c.2852G>A (p.Ser951Asn) | |
7 | g.41966219T>A | CA367320203 | GLI3 | c.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 |
7 | g.41966219T>C | CA367320204 | GLI3 | c.2854A>G (p.Ser952Gly) c.2680A>G (p.Ser894Gly) n.2831A>G c.2677A>G (p.Ser893Gly) c.2851A>G (p.Ser951Gly) | |
7 | g.41966219T>G | CA367320205 | GLI3 | c.2854A>C (p.Ser952Arg) c.2680A>C (p.Ser894Arg) n.2831A>C c.2677A>C (p.Ser893Arg) c.2851A>C (p.Ser951Arg) | COSMIC |
7 | g.41966219T= | CA1702661180 | GLI3 | c.2854A= (p.Ser952=) c.2680A= (p.Ser894=) n.2831A= c.2677A= (p.Ser893=) c.2851A= (p.Ser951=) | |
7 | g.41966220C>A | CA367320206 | GLI3 | c.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 |
7 | g.41966220C= | CA1702661181 | GLI3 | c.2853G= (p.Met951=) c.2679G= (p.Met893=) n.2830G= c.2676G= (p.Met892=) c.2850G= (p.Met950=) | |
7 | g.41966220C>G | CA4230514 | GLI3 | c.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 |
7 | g.41966220C>T | CA367320207 | GLI3 | c.2853G>A (p.Met951Ile) c.2679G>A (p.Met893Ile) n.2830G>A c.2676G>A (p.Met892Ile) c.2850G>A (p.Met950Ile) | |
7 | g.41966221A>C | CA367320210 | GLI3 | c.2852T>G (p.Met951Arg) c.2678T>G (p.Met893Arg) n.2829T>G c.2675T>G (p.Met892Arg) c.2849T>G (p.Met950Arg) | |
7 | g.41966221A>G | CA367320209 | GLI3 | c.2852T>C (p.Met951Thr) c.2678T>C (p.Met893Thr) n.2829T>C c.2675T>C (p.Met892Thr) c.2849T>C (p.Met950Thr) | |
7 | g.41966221A>T | CA367320208 | GLI3 | c.2852T>A (p.Met951Lys) c.2678T>A (p.Met893Lys) n.2829T>A c.2675T>A (p.Met892Lys) c.2849T>A (p.Met950Lys) | |
7 | g.41966222T>A | CA367320211 | GLI3 | c.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 |
7 | g.41966222T>C | CA367320213 | GLI3 | c.2851A>G (p.Met951Val) c.2677A>G (p.Met893Val) n.2828A>G c.2674A>G (p.Met892Val) c.2848A>G (p.Met950Val) | COSMIC |
7 | g.41966222T>G | CA367320212 | GLI3 | c.2851A>C (p.Met951Leu) c.2677A>C (p.Met893Leu) n.2828A>C c.2674A>C (p.Met892Leu) c.2848A>C (p.Met950Leu) | |
7 | g.41966222T= | CA1702661182 | GLI3 | c.2851A= (p.Met951=) c.2677A= (p.Met893=) n.2828A= c.2674A= (p.Met892=) c.2848A= (p.Met950=) | |
7 | g.41966223C>A | CA367320214 | GLI3 | c.2850G>T (p.Arg950Ser) c.2676G>T (p.Arg892Ser) n.2827G>T c.2673G>T (p.Arg891Ser) c.2847G>T (p.Arg949Ser) | gnomAD v4 |
7 | g.41966223C>G | CA367320215 | GLI3 | c.2850G>C (p.Arg950Ser) c.2676G>C (p.Arg892Ser) n.2827G>C c.2673G>C (p.Arg891Ser) c.2847G>C (p.Arg949Ser) | |
7 | g.41966223C>T | CA454662248 | GLI3 | c.2850G>A (p.Arg950=) c.2676G>A (p.Arg892=) n.2827G>A c.2673G>A (p.Arg891=) c.2847G>A (p.Arg949=) | |
7 | g.41966224C>A | CA367320216 | GLI3 | c.2849G>T (p.Arg950Met) c.2675G>T (p.Arg892Met) n.2826G>T c.2672G>T (p.Arg891Met) c.2846G>T (p.Arg949Met) | |
7 | g.41966224C= | CA1702661183 | GLI3 | c.2849G= (p.Arg950=) c.2675G= (p.Arg892=) n.2826G= c.2672G= (p.Arg891=) c.2846G= (p.Arg949=) | |
7 | g.41966224C>G | CA367320218 | GLI3 | c.2849G>C (p.Arg950Thr) c.2675G>C (p.Arg892Thr) n.2826G>C c.2672G>C (p.Arg891Thr) c.2846G>C (p.Arg949Thr) | gnomAD v4 |
7 | g.41966224C>T | CA367320217 | GLI3 | c.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 |
7 | g.41966225T>A | CA367320219 | GLI3 | c.2848A>T (p.Arg950Trp) c.2674A>T (p.Arg892Trp) n.2825A>T c.2671A>T (p.Arg891Trp) c.2845A>T (p.Arg949Trp) | |
7 | g.41966225T>C | CA367320220 | GLI3 | c.2848A>G (p.Arg950Gly) c.2674A>G (p.Arg892Gly) n.2825A>G c.2671A>G (p.Arg891Gly) c.2845A>G (p.Arg949Gly) | |
7 | g.41966225T>G | CA454662250 | GLI3 | c.2848A>C (p.Arg950=) c.2674A>C (p.Arg892=) n.2825A>C c.2671A>C (p.Arg891=) c.2845A>C (p.Arg949=) | gnomAD v4 |
7 | g.41966226C>A | CA367320221 | GLI3 | c.2847G>T (p.Glu949Asp) c.2673G>T (p.Glu891Asp) n.2824G>T c.2670G>T (p.Glu890Asp) c.2844G>T (p.Glu948Asp) | |
7 | g.41966226C>G | CA367320222 | GLI3 | c.2847G>C (p.Glu949Asp) c.2673G>C (p.Glu891Asp) n.2824G>C c.2670G>C (p.Glu890Asp) c.2844G>C (p.Glu948Asp) | |
7 | g.41966226C>T | CA454662251 | GLI3 | c.2847G>A (p.Glu949=) c.2673G>A (p.Glu891=) n.2824G>A c.2670G>A (p.Glu890=) c.2844G>A (p.Glu948=) | |
7 | g.41966227T>A | CA367320223 | GLI3 | c.2846A>T (p.Glu949Val) c.2672A>T (p.Glu891Val) n.2823A>T c.2669A>T (p.Glu890Val) c.2843A>T (p.Glu948Val) | |
7 | g.41966227T>C | CA367320224 | GLI3 | c.2846A>G (p.Glu949Gly) c.2672A>G (p.Glu891Gly) n.2823A>G c.2669A>G (p.Glu890Gly) c.2843A>G (p.Glu948Gly) | gnomAD v4 |
7 | g.41966227T>G | CA367320225 | GLI3 | c.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 |
7 | g.41966227T= | CA1702661184 | GLI3 | c.2846A= (p.Glu949=) c.2672A= (p.Glu891=) n.2823A= c.2669A= (p.Glu890=) c.2843A= (p.Glu948=) | |
7 | g.41966228C>A | CA367320226 | GLI3 | c.2845G>T (p.Glu949Ter) c.2671G>T (p.Glu891Ter) n.2822G>T c.2668G>T (p.Glu890Ter) c.2842G>T (p.Glu948Ter) | gnomAD v4 |
7 | g.41966228C= | CA1702661185 | GLI3 | c.2845G= (p.Glu949=) c.2671G= (p.Glu891=) n.2822G= c.2668G= (p.Glu890=) c.2842G= (p.Glu948=) | |
7 | g.41966228C>G | CA367320227 | GLI3 | c.2845G>C (p.Glu949Gln) c.2671G>C (p.Glu891Gln) n.2822G>C c.2668G>C (p.Glu890Gln) c.2842G>C (p.Glu948Gln) | |
7 | g.41966228C>T | CA367320228 | GLI3 | c.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 |
7 | g.41966229C>A | CA367320231 | GLI3 | c.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 |
7 | g.41966229C= | CA1702661186 | GLI3 | c.2844G= (p.Met948=) c.2670G= (p.Met890=) n.2821G= c.2667G= (p.Met889=) c.2841G= (p.Met947=) | |
7 | g.41966229C>G | CA367320230 | GLI3 | c.2844G>C (p.Met948Ile) c.2670G>C (p.Met890Ile) n.2821G>C c.2667G>C (p.Met889Ile) c.2841G>C (p.Met947Ile) | gnomAD v4 |
7 | g.41966229C>T | CA367320229 | GLI3 | c.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 |
7 | g.41966230A= | CA1702661187 | GLI3 | c.2843T= (p.Met948=) c.2669T= (p.Met890=) n.2820T= c.2666T= (p.Met889=) c.2840T= (p.Met947=) | |
7 | g.41966230A>C | CA367320232 | GLI3 | c.2843T>G (p.Met948Arg) c.2669T>G (p.Met890Arg) n.2820T>G c.2666T>G (p.Met889Arg) c.2840T>G (p.Met947Arg) | |
7 | g.41966230A>G | CA367320233 | GLI3 | c.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 |
7 | g.41966230A>T | CA367320234 | GLI3 | c.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 |
7 | g.41966231T>A | CA367320235 | GLI3 | c.2842A>T (p.Met948Leu) c.2668A>T (p.Met890Leu) n.2819A>T c.2665A>T (p.Met889Leu) c.2839A>T (p.Met947Leu) | |
7 | g.41966231T>C | CA367320236 | GLI3 | c.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 |
7 | g.41966231T>G | CA367320237 | GLI3 | c.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 |
7 | g.41966231T= | CA1702661188 | GLI3 | c.2842A= (p.Met948=) c.2668A= (p.Met890=) n.2819A= c.2665A= (p.Met889=) c.2839A= (p.Met947=) | |
7 | g.41966232G>A | CA454662258 | GLI3 | c.2841C>T (p.Asn947=) c.2667C>T (p.Asn889=) n.2818C>T c.2664C>T (p.Asn888=) c.2838C>T (p.Asn946=) | |
7 | g.41966232G>C | CA4230515 | GLI3 | c.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 |
7 | g.41966232G= | CA1702661189 | GLI3 | c.2841C= (p.Asn947=) c.2667C= (p.Asn889=) n.2818C= c.2664C= (p.Asn888=) c.2838C= (p.Asn946=) | |
7 | g.41966232G>T | CA367320238 | GLI3 | c.2841C>A (p.Asn947Lys) c.2667C>A (p.Asn889Lys) n.2818C>A c.2664C>A (p.Asn888Lys) c.2838C>A (p.Asn946Lys) | gnomAD v4 |
7 | g.41966233T>A | CA367320239 | GLI3 | c.2840A>T (p.Asn947Ile) c.2666A>T (p.Asn889Ile) n.2817A>T c.2663A>T (p.Asn888Ile) c.2837A>T (p.Asn946Ile) | |
7 | g.41966233T>C | CA367320240 | GLI3 | c.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 |
7 | g.41966233T>G | CA367320241 | GLI3 | c.2840A>C (p.Asn947Thr) c.2666A>C (p.Asn889Thr) n.2817A>C c.2663A>C (p.Asn888Thr) c.2837A>C (p.Asn946Thr) | |
7 | g.41966233T= | CA1702661190 | GLI3 | c.2840A= (p.Asn947=) c.2666A= (p.Asn889=) n.2817A= c.2663A= (p.Asn888=) c.2837A= (p.Asn946=) | |
7 | g.41966234T>A | CA367320243 | GLI3 | c.2839A>T (p.Asn947Tyr) c.2665A>T (p.Asn889Tyr) n.2816A>T c.2662A>T (p.Asn888Tyr) c.2836A>T (p.Asn946Tyr) | |
7 | g.41966234T>C | CA367320244 | GLI3 | c.2839A>G (p.Asn947Asp) c.2665A>G (p.Asn889Asp) n.2816A>G c.2662A>G (p.Asn888Asp) c.2836A>G (p.Asn946Asp) | |
7 | g.41966234T>G | CA367320242 | GLI3 | c.2839A>C (p.Asn947His) c.2665A>C (p.Asn889His) n.2816A>C c.2662A>C (p.Asn888His) c.2836A>C (p.Asn946His) | |
7 | g.41966235G>A | CA454662262 | GLI3 | c.2838C>T (p.Pro946=) c.2664C>T (p.Pro888=) n.2815C>T c.2661C>T (p.Pro887=) c.2835C>T (p.Pro945=) | |
7 | g.41966235G>C | CA454662263 | GLI3 | c.2838C>G (p.Pro946=) c.2664C>G (p.Pro888=) n.2815C>G c.2661C>G (p.Pro887=) c.2835C>G (p.Pro945=) | |
7 | g.41966235G>T | CA454662264 | GLI3 | c.2838C>A (p.Pro946=) c.2664C>A (p.Pro888=) n.2815C>A c.2661C>A (p.Pro887=) c.2835C>A (p.Pro945=) | gnomAD v4 |
7 | g.41966236G>A | CA367320245 | GLI3 | c.2837C>T (p.Pro946Leu) c.2663C>T (p.Pro888Leu) n.2814C>T c.2660C>T (p.Pro887Leu) c.2834C>T (p.Pro945Leu) | dbSNP |
7 | g.41966236G>C | CA367320246 | GLI3 | c.2837C>G (p.Pro946Arg) c.2663C>G (p.Pro888Arg) n.2814C>G c.2660C>G (p.Pro887Arg) c.2834C>G (p.Pro945Arg) | |
7 | g.41966236G= | CA1702661191 | GLI3 | c.2837C= (p.Pro946=) c.2663C= (p.Pro888=) n.2814C= c.2660C= (p.Pro887=) c.2834C= (p.Pro945=) | |
7 | g.41966236G>T | CA367320247 | GLI3 | c.2837C>A (p.Pro946His) c.2663C>A (p.Pro888His) n.2814C>A c.2660C>A (p.Pro887His) c.2834C>A (p.Pro945His) | |
7 | g.41966237G>A | CA367320248 | GLI3 | c.2836C>T (p.Pro946Ser) c.2662C>T (p.Pro888Ser) n.2813C>T c.2659C>T (p.Pro887Ser) c.2833C>T (p.Pro945Ser) | gnomAD v4 |
7 | g.41966237G>C | CA367320249 | GLI3 | c.2836C>G (p.Pro946Ala) c.2662C>G (p.Pro888Ala) n.2813C>G c.2659C>G (p.Pro887Ala) c.2833C>G (p.Pro945Ala) | |
7 | g.41966237G>T | CA367320250 | GLI3 | c.2836C>A (p.Pro946Thr) c.2662C>A (p.Pro888Thr) n.2813C>A c.2659C>A (p.Pro887Thr) c.2833C>A (p.Pro945Thr) | gnomAD v4 |
7 | g.41966238C>A | CA454662265 | GLI3 | c.2835G>T (p.Leu945=) c.2661G>T (p.Leu887=) n.2812G>T c.2658G>T (p.Leu886=) c.2832G>T (p.Leu944=) | |
7 | g.41966238C= | CA1702661192 | GLI3 | c.2835G= (p.Leu945=) c.2661G= (p.Leu887=) n.2812G= c.2658G= (p.Leu886=) c.2832G= (p.Leu944=) | |
7 | g.41966238C>G | CA201194 | GLI3 | c.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 |
7 | g.41966238C>T | CA454662266 | GLI3 | c.2835G>A (p.Leu945=) c.2661G>A (p.Leu887=) n.2812G>A c.2658G>A (p.Leu886=) c.2832G>A (p.Leu944=) | gnomAD v4 |
7 | g.41966239A>C | CA367320251 | GLI3 | c.2834T>G (p.Leu945Arg) c.2660T>G (p.Leu887Arg) n.2811T>G c.2657T>G (p.Leu886Arg) c.2831T>G (p.Leu944Arg) | |
7 | g.41966239A>G | CA367320252 | GLI3 | c.2834T>C (p.Leu945Pro) c.2660T>C (p.Leu887Pro) n.2811T>C c.2657T>C (p.Leu886Pro) c.2831T>C (p.Leu944Pro) | COSMIC |
7 | g.41966239A>T | CA367320253 | GLI3 | c.2834T>A (p.Leu945Gln) c.2660T>A (p.Leu887Gln) n.2811T>A c.2657T>A (p.Leu886Gln) c.2831T>A (p.Leu944Gln) | |
7 | g.41966240G>A | CA454662269 | GLI3 | c.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 |
7 | g.41966240G>C | CA156905222 | GLI3 | c.2833C>G (p.Leu945Val) c.2659C>G (p.Leu887Val) n.2810C>G c.2656C>G (p.Leu886Val) c.2830C>G (p.Leu944Val) | dbSNP |
7 | g.41966240G= | CA1702661193 | GLI3 | c.2833C= (p.Leu945=) c.2659C= (p.Leu887=) n.2810C= c.2656C= (p.Leu886=) c.2830C= (p.Leu944=) | |
7 | g.41966240G>T | CA367320254 | GLI3 | c.2833C>A (p.Leu945Met) c.2659C>A (p.Leu887Met) n.2810C>A c.2656C>A (p.Leu886Met) c.2830C>A (p.Leu944Met) | gnomAD v4 |
7 | g.41966241G>A | CA454662272 | GLI3 | c.2832C>T (p.Pro944=) c.2658C>T (p.Pro886=) n.2809C>T c.2655C>T (p.Pro885=) c.2829C>T (p.Pro943=) | |
7 | g.41966241G>C | CA4230516 | GLI3 | c.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 |
7 | g.41966241G= | CA1702661194 | GLI3 | c.2832C= (p.Pro944=) c.2658C= (p.Pro886=) n.2809C= c.2655C= (p.Pro885=) c.2829C= (p.Pro943=) | |
7 | g.41966241G>T | CA454662275 | GLI3 | c.2832C>A (p.Pro944=) c.2658C>A (p.Pro886=) n.2809C>A c.2655C>A (p.Pro885=) c.2829C>A (p.Pro943=) | gnomAD v4 |
7 | g.41966242G>A | CA367320257 | GLI3 | c.2831C>T (p.Pro944Leu) c.2657C>T (p.Pro886Leu) n.2808C>T c.2654C>T (p.Pro885Leu) c.2828C>T (p.Pro943Leu) | COSMIC |
7 | g.41966242G>C | CA367320256 | GLI3 | c.2831C>G (p.Pro944Arg) c.2657C>G (p.Pro886Arg) n.2808C>G c.2654C>G (p.Pro885Arg) c.2828C>G (p.Pro943Arg) | |
7 | g.41966242G>T | CA367320255 | GLI3 | c.2831C>A (p.Pro944His) c.2657C>A (p.Pro886His) n.2808C>A c.2654C>A (p.Pro885His) c.2828C>A (p.Pro943His) | |
7 | g.41966243G>A | CA367320258 | GLI3 | c.2830C>T (p.Pro944Ser) c.2656C>T (p.Pro886Ser) n.2807C>T c.2653C>T (p.Pro885Ser) c.2827C>T (p.Pro943Ser) | gnomAD v4 |
7 | g.41966243G>C | CA367320259 | GLI3 | c.2830C>G (p.Pro944Ala) c.2656C>G (p.Pro886Ala) n.2807C>G c.2653C>G (p.Pro885Ala) c.2827C>G (p.Pro943Ala) | |
7 | g.41966243G>T | CA367320260 | GLI3 | c.2830C>A (p.Pro944Thr) c.2656C>A (p.Pro886Thr) n.2807C>A c.2653C>A (p.Pro885Thr) c.2827C>A (p.Pro943Thr) | |
7 | g.41966244C>A | CA454662279 | GLI3 | c.2829G>T (p.Thr943=) c.2655G>T (p.Thr885=) n.2806G>T c.2652G>T (p.Thr884=) c.2826G>T (p.Thr942=) | gnomAD v4 |
7 | g.41966244C= | CA1702661195 | GLI3 | c.2829G= (p.Thr943=) c.2655G= (p.Thr885=) n.2806G= c.2652G= (p.Thr884=) c.2826G= (p.Thr942=) | |
7 | g.41966244C>G | CA454662280 | GLI3 | c.2829G>C (p.Thr943=) c.2655G>C (p.Thr885=) n.2806G>C c.2652G>C (p.Thr884=) c.2826G>C (p.Thr942=) | |
7 | g.41966244C>T | CA4230517 | GLI3 | c.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 |
7 | g.41966245G>A | CA4230518 | GLI3 | c.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 |
7 | g.41966245G>C | CA367320261 | GLI3 | c.2828C>G (p.Thr943Arg) c.2654C>G (p.Thr885Arg) n.2805C>G c.2651C>G (p.Thr884Arg) c.2825C>G (p.Thr942Arg) | |
7 | g.41966245G= | CA1702661196 | GLI3 | c.2828C= (p.Thr943=) c.2654C= (p.Thr885=) n.2805C= c.2651C= (p.Thr884=) c.2825C= (p.Thr942=) | |
7 | g.41966245G>T | CA367320262 | GLI3 | c.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 |
7 | g.41966246T>A | CA367320263 | GLI3 | c.2827A>T (p.Thr943Ser) c.2653A>T (p.Thr885Ser) n.2804A>T c.2650A>T (p.Thr884Ser) c.2824A>T (p.Thr942Ser) | gnomAD v4 |
7 | g.41966246T>C | CA367320264 | GLI3 | c.2827A>G (p.Thr943Ala) c.2653A>G (p.Thr885Ala) n.2804A>G c.2650A>G (p.Thr884Ala) c.2824A>G (p.Thr942Ala) | |
7 | g.41966246T>G | CA367320265 | GLI3 | c.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 |
7 | g.41966246T= | CA1702661197 | GLI3 | c.2827A= (p.Thr943=) c.2653A= (p.Thr885=) n.2804A= c.2650A= (p.Thr884=) c.2824A= (p.Thr942=) | |
7 | g.41966247C>A | CA4230519 | GLI3 | c.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 |
7 | g.41966247C= | CA1702661198 | GLI3 | c.2826G= (p.Pro942=) c.2652G= (p.Pro884=) n.2803G= c.2649G= (p.Pro883=) c.2823G= (p.Pro941=) | |
7 | g.41966247C>G | CA201190 | GLI3 | c.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 |
7 | g.41966247C>T | CA156905271 | GLI3 | c.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 |
7 | g.41966248G>A | CA367320268 | GLI3 | c.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 |
7 | g.41966248G>C | CA367320267 | GLI3 | c.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 |
7 | g.41966248G= | CA1702661199 | GLI3 | c.2825C= (p.Pro942=) c.2651C= (p.Pro884=) n.2802C= c.2648C= (p.Pro883=) c.2822C= (p.Pro941=) | |
7 | g.41966248G>T | CA367320266 | GLI3 | c.2825C>A (p.Pro942Gln) c.2651C>A (p.Pro884Gln) n.2802C>A c.2648C>A (p.Pro883Gln) c.2822C>A (p.Pro941Gln) | gnomAD v4 |
7 | g.41966249G>A | CA367320269 | GLI3 | c.2824C>T (p.Pro942Ser) c.2650C>T (p.Pro884Ser) n.2801C>T c.2647C>T (p.Pro883Ser) c.2821C>T (p.Pro941Ser) | gnomAD v4 |
7 | g.41966249G>C | CA367320270 | GLI3 | c.2824C>G (p.Pro942Ala) c.2650C>G (p.Pro884Ala) n.2801C>G c.2647C>G (p.Pro883Ala) c.2821C>G (p.Pro941Ala) | |
7 | g.41966249G>T | CA367320271 | GLI3 | c.2824C>A (p.Pro942Thr) c.2650C>A (p.Pro884Thr) n.2801C>A c.2647C>A (p.Pro883Thr) c.2821C>A (p.Pro941Thr) | gnomAD v4 |
7 | g.41966250C>A | CA454662288 | GLI3 | c.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 |
7 | g.41966250C= | CA1702661200 | GLI3 | c.2823G= (p.Pro941=) c.2649G= (p.Pro883=) n.2800G= c.2646G= (p.Pro882=) c.2820G= (p.Pro940=) | |
7 | g.41966250C>G | CA454662289 | GLI3 | c.2823G>C (p.Pro941=) c.2649G>C (p.Pro883=) n.2800G>C c.2646G>C (p.Pro882=) c.2820G>C (p.Pro940=) | |
7 | g.41966250C>T | CA454662290 | GLI3 | c.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 |
7 | g.41966251G>A | CA367320272 | GLI3 | c.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 |
7 | g.41966251G>C | CA367320273 | GLI3 | c.2822C>G (p.Pro941Arg) c.2648C>G (p.Pro883Arg) n.2799C>G c.2645C>G (p.Pro882Arg) c.2819C>G (p.Pro940Arg) | |
7 | g.41966251G= | CA1702661201 | GLI3 | c.2822C= (p.Pro941=) c.2648C= (p.Pro883=) n.2799C= c.2645C= (p.Pro882=) c.2819C= (p.Pro940=) | |
7 | g.41966251G>T | CA367320274 | GLI3 | c.2822C>A (p.Pro941Gln) c.2648C>A (p.Pro883Gln) n.2799C>A c.2645C>A (p.Pro882Gln) c.2819C>A (p.Pro940Gln) | |
7 | g.41966252G>A | CA367320277 | GLI3 | c.2821C>T (p.Pro941Ser) c.2647C>T (p.Pro883Ser) n.2798C>T c.2644C>T (p.Pro882Ser) c.2818C>T (p.Pro940Ser) | gnomAD v4 |
7 | g.41966252G>C | CA367320276 | GLI3 | c.2821C>G (p.Pro941Ala) c.2647C>G (p.Pro883Ala) n.2798C>G c.2644C>G (p.Pro882Ala) c.2818C>G (p.Pro940Ala) | |
7 | g.41966252G>T | CA367320275 | GLI3 | c.2821C>A (p.Pro941Thr) c.2647C>A (p.Pro883Thr) n.2798C>A c.2644C>A (p.Pro882Thr) c.2818C>A (p.Pro940Thr) | gnomAD v4 |
7 | g.41966253C>A | CA454662297 | GLI3 | c.2820G>T (p.Pro940=) c.2646G>T (p.Pro882=) n.2797G>T c.2643G>T (p.Pro881=) c.2817G>T (p.Pro939=) | |
7 | g.41966253C= | CA1702661202 | GLI3 | c.2820G= (p.Pro940=) c.2646G= (p.Pro882=) n.2797G= c.2643G= (p.Pro881=) c.2817G= (p.Pro939=) | |
7 | g.41966253C>G | CA454662295 | GLI3 | c.2820G>C (p.Pro940=) c.2646G>C (p.Pro882=) n.2797G>C c.2643G>C (p.Pro881=) c.2817G>C (p.Pro939=) | dbSNP |
7 | g.41966253C>T | CA454662296 | GLI3 | c.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 |
7 | g.41966254G>A | CA367320278 | GLI3 | c.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 |
7 | g.41966254G>C | CA367320279 | GLI3 | c.2819C>G (p.Pro940Arg) c.2645C>G (p.Pro882Arg) n.2796C>G c.2642C>G (p.Pro881Arg) c.2816C>G (p.Pro939Arg) | |
7 | g.41966254G= | CA1702661203 | GLI3 | c.2819C= (p.Pro940=) c.2645C= (p.Pro882=) n.2796C= c.2642C= (p.Pro881=) c.2816C= (p.Pro939=) | |
7 | g.41966254G>T | CA367320280 | GLI3 | c.2819C>A (p.Pro940Gln) c.2645C>A (p.Pro882Gln) n.2796C>A c.2642C>A (p.Pro881Gln) c.2816C>A (p.Pro939Gln) | gnomAD v4 |
7 | g.41966255G>A | CA367320281 | GLI3 | c.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 |
7 | g.41966255G>C | CA367320282 | GLI3 | c.2818C>G (p.Pro940Ala) c.2644C>G (p.Pro882Ala) n.2795C>G c.2641C>G (p.Pro881Ala) c.2815C>G (p.Pro939Ala) | |
7 | g.41966255G= | CA1702661204 | GLI3 | c.2818C= (p.Pro940=) c.2644C= (p.Pro882=) n.2795C= c.2641C= (p.Pro881=) c.2815C= (p.Pro939=) | |
7 | g.41966255G>T | CA367320283 | GLI3 | c.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 |
7 | g.41966256C>A | CA454662302 | GLI3 | c.2817G>T (p.Gly939=) c.2643G>T (p.Gly881=) n.2794G>T c.2640G>T (p.Gly880=) c.2814G>T (p.Gly938=) | |
7 | g.41966256C= | CA1702661205 | GLI3 | c.2817G= (p.Gly939=) c.2643G= (p.Gly881=) n.2794G= c.2640G= (p.Gly880=) c.2814G= (p.Gly938=) | |
7 | g.41966256C>G | CA454662303 | GLI3 | c.2817G>C (p.Gly939=) c.2643G>C (p.Gly881=) n.2794G>C c.2640G>C (p.Gly880=) c.2814G>C (p.Gly938=) | |
7 | g.41966256C>T | CA454662304 | GLI3 | c.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 |
7 | g.41966257C>A | CA367320284 | GLI3 | c.2816G>T (p.Gly939Val) c.2642G>T (p.Gly881Val) n.2793G>T c.2639G>T (p.Gly880Val) c.2813G>T (p.Gly938Val) | |
7 | g.41966257C>G | CA367320286 | GLI3 | c.2816G>C (p.Gly939Ala) c.2642G>C (p.Gly881Ala) n.2793G>C c.2639G>C (p.Gly880Ala) c.2813G>C (p.Gly938Ala) | |
7 | g.41966257C>T | CA367320285 | GLI3 | c.2816G>A (p.Gly939Glu) c.2642G>A (p.Gly881Glu) n.2793G>A c.2639G>A (p.Gly880Glu) c.2813G>A (p.Gly938Glu) | gnomAD v4 |
7 | g.41966258C>A | CA367320287 | GLI3 | c.2815G>T (p.Gly939Trp) c.2641G>T (p.Gly881Trp) n.2792G>T c.2638G>T (p.Gly880Trp) c.2812G>T (p.Gly938Trp) | gnomAD v4 |
7 | g.41966258C= | CA1702661206 | GLI3 | c.2815G= (p.Gly939=) c.2641G= (p.Gly881=) n.2792G= c.2638G= (p.Gly880=) c.2812G= (p.Gly938=) | |
7 | g.41966258C>G | CA367320288 | GLI3 | c.2815G>C (p.Gly939Arg) c.2641G>C (p.Gly881Arg) n.2792G>C c.2638G>C (p.Gly880Arg) c.2812G>C (p.Gly938Arg) | |
7 | g.41966258C>T | CA367320289 | GLI3 | c.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 |
7 | g.41966259T>A | CA454662313 | GLI3 | c.2814A>T (p.Gly938=) c.2640A>T (p.Gly880=) n.2791A>T c.2637A>T (p.Gly879=) c.2811A>T (p.Gly937=) | |
7 | g.41966259T>C | CA454662314 | GLI3 | c.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 |
7 | g.41966259T>G | CA454662315 | GLI3 | c.2814A>C (p.Gly938=) c.2640A>C (p.Gly880=) n.2791A>C c.2637A>C (p.Gly879=) c.2811A>C (p.Gly937=) | |
7 | g.41966259T= | CA1702661207 | GLI3 | c.2814A= (p.Gly938=) c.2640A= (p.Gly880=) n.2791A= c.2637A= (p.Gly879=) c.2811A= (p.Gly937=) | |
7 | g.41966260C>A | CA367320290 | GLI3 | c.2813G>T (p.Gly938Val) c.2639G>T (p.Gly880Val) n.2790G>T c.2636G>T (p.Gly879Val) c.2810G>T (p.Gly937Val) | |
7 | g.41966260C>G | CA367320291 | GLI3 | c.2813G>C (p.Gly938Ala) c.2639G>C (p.Gly880Ala) n.2790G>C c.2636G>C (p.Gly879Ala) c.2810G>C (p.Gly937Ala) | |
7 | g.41966260C>T | CA367320292 | GLI3 | c.2813G>A (p.Gly938Glu) c.2639G>A (p.Gly880Glu) n.2790G>A c.2636G>A (p.Gly879Glu) c.2810G>A (p.Gly937Glu) | |
7 | g.41966261C>A | CA367320293 | GLI3 | c.2812G>T (p.Gly938Ter) c.2638G>T (p.Gly880Ter) n.2789G>T c.2635G>T (p.Gly879Ter) c.2809G>T (p.Gly937Ter) | |
7 | g.41966261C>G | CA367320294 | GLI3 | c.2812G>C (p.Gly938Arg) c.2638G>C (p.Gly880Arg) n.2789G>C c.2635G>C (p.Gly879Arg) c.2809G>C (p.Gly937Arg) | |
7 | g.41966261C>T | CA367320295 | GLI3 | c.2812G>A (p.Gly938Arg) c.2638G>A (p.Gly880Arg) n.2789G>A c.2635G>A (p.Gly879Arg) c.2809G>A (p.Gly937Arg) | |
7 | g.41966262T>A | CA454662322 | GLI3 | c.2811A>T (p.Thr937=) c.2637A>T (p.Thr879=) n.2788A>T c.2634A>T (p.Thr878=) c.2808A>T (p.Thr936=) | gnomAD v4 |
7 | g.41966262T>C | CA454662323 | GLI3 | c.2811A>G (p.Thr937=) c.2637A>G (p.Thr879=) n.2788A>G c.2634A>G (p.Thr878=) c.2808A>G (p.Thr936=) | |
7 | g.41966262T>G | CA454662324 | GLI3 | c.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 |
7 | g.41966262T= | CA1702661208 | GLI3 | c.2811A= (p.Thr937=) c.2637A= (p.Thr879=) n.2788A= c.2634A= (p.Thr878=) c.2808A= (p.Thr936=) | |
7 | g.41966263G>A | CA367320296 | GLI3 | c.2810C>T (p.Thr937Ile) c.2636C>T (p.Thr879Ile) n.2787C>T c.2633C>T (p.Thr878Ile) c.2807C>T (p.Thr936Ile) | gnomAD v4 |
7 | g.41966263G>C | CA367320297 | GLI3 | c.2810C>G (p.Thr937Arg) c.2636C>G (p.Thr879Arg) n.2787C>G c.2633C>G (p.Thr878Arg) c.2807C>G (p.Thr936Arg) | |
7 | g.41966263G>T | CA367320298 | GLI3 | c.2810C>A (p.Thr937Lys) c.2636C>A (p.Thr879Lys) n.2787C>A c.2633C>A (p.Thr878Lys) c.2807C>A (p.Thr936Lys) | gnomAD v4 |
7 | g.41966264T>A | CA367320299 | GLI3 | c.2809A>T (p.Thr937Ser) c.2635A>T (p.Thr879Ser) n.2786A>T c.2632A>T (p.Thr878Ser) c.2806A>T (p.Thr936Ser) | |
7 | g.41966264T>C | CA367320301 | GLI3 | c.2809A>G (p.Thr937Ala) c.2635A>G (p.Thr879Ala) n.2786A>G c.2632A>G (p.Thr878Ala) c.2806A>G (p.Thr936Ala) | |
7 | g.41966264T>G | CA367320300 | GLI3 | c.2809A>C (p.Thr937Pro) c.2635A>C (p.Thr879Pro) n.2786A>C c.2632A>C (p.Thr878Pro) c.2806A>C (p.Thr936Pro) | |
7 | g.41966265G>A | CA454662327 | GLI3 | c.2808C>T (p.Ala936=) c.2634C>T (p.Ala878=) n.2785C>T c.2631C>T (p.Ala877=) c.2805C>T (p.Ala935=) | |
7 | g.41966265G>C | CA454662330 | GLI3 | c.2808C>G (p.Ala936=) c.2634C>G (p.Ala878=) n.2785C>G c.2631C>G (p.Ala877=) c.2805C>G (p.Ala935=) | |
7 | g.41966265G>T | CA454662333 | GLI3 | c.2808C>A (p.Ala936=) c.2634C>A (p.Ala878=) n.2785C>A c.2631C>A (p.Ala877=) c.2805C>A (p.Ala935=) | |
7 | g.41966266G>A | CA367320302 | GLI3 | c.2807C>T (p.Ala936Val) c.2633C>T (p.Ala878Val) n.2784C>T c.2630C>T (p.Ala877Val) c.2804C>T (p.Ala935Val) | gnomAD v4 |
7 | g.41966266G>C | CA367320303 | GLI3 | c.2807C>G (p.Ala936Gly) c.2633C>G (p.Ala878Gly) n.2784C>G c.2630C>G (p.Ala877Gly) c.2804C>G (p.Ala935Gly) | |
7 | g.41966266G>T | CA367320304 | GLI3 | c.2807C>A (p.Ala936Asp) c.2633C>A (p.Ala878Asp) n.2784C>A c.2630C>A (p.Ala877Asp) c.2804C>A (p.Ala935Asp) | gnomAD v4 |
7 | g.41966267C>A | CA367320305 | GLI3 | c.2806G>T (p.Ala936Ser) c.2632G>T (p.Ala878Ser) n.2783G>T c.2629G>T (p.Ala877Ser) c.2803G>T (p.Ala935Ser) | gnomAD v4 |
7 | g.41966267C>G | CA367320306 | GLI3 | c.2806G>C (p.Ala936Pro) c.2632G>C (p.Ala878Pro) n.2783G>C c.2629G>C (p.Ala877Pro) c.2803G>C (p.Ala935Pro) | |
7 | g.41966267C>T | CA367320307 | GLI3 | c.2806G>A (p.Ala936Thr) c.2632G>A (p.Ala878Thr) n.2783G>A c.2629G>A (p.Ala877Thr) c.2803G>A (p.Ala935Thr) | gnomAD v4 |
7 | g.41966268A>C | CA454662337 | GLI3 | c.2805T>G (p.Ala935=) c.2631T>G (p.Ala877=) n.2782T>G c.2628T>G (p.Ala876=) c.2802T>G (p.Ala934=) | |
7 | g.41966268A>G | CA454662338 | GLI3 | c.2805T>C (p.Ala935=) c.2631T>C (p.Ala877=) n.2782T>C c.2628T>C (p.Ala876=) c.2802T>C (p.Ala934=) | |
7 | g.41966268A>T | CA454662339 | GLI3 | c.2805T>A (p.Ala935=) c.2631T>A (p.Ala877=) n.2782T>A c.2628T>A (p.Ala876=) c.2802T>A (p.Ala934=) | |
7 | g.41966269G>A | CA367320308 | GLI3 | c.2804C>T (p.Ala935Val) c.2630C>T (p.Ala877Val) n.2781C>T c.2627C>T (p.Ala876Val) c.2801C>T (p.Ala934Val) | gnomAD v4 |
7 | g.41966269G>C | CA367320309 | GLI3 | c.2804C>G (p.Ala935Gly) c.2630C>G (p.Ala877Gly) n.2781C>G c.2627C>G (p.Ala876Gly) c.2801C>G (p.Ala934Gly) | |
7 | g.41966269G= | CA1702661209 | GLI3 | c.2804C= (p.Ala935=) c.2630C= (p.Ala877=) n.2781C= c.2627C= (p.Ala876=) c.2801C= (p.Ala934=) | |
7 | g.41966269G>T | CA367320310 | GLI3 | c.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 |
7 | g.41966270C>A | CA367320311 | GLI3 | c.2803G>T (p.Ala935Ser) c.2629G>T (p.Ala877Ser) n.2780G>T c.2626G>T (p.Ala876Ser) c.2800G>T (p.Ala934Ser) | COSMIC |
7 | g.41966270C= | CA1702661210 | GLI3 | c.2803G= (p.Ala935=) c.2629G= (p.Ala877=) n.2780G= c.2626G= (p.Ala876=) c.2800G= (p.Ala934=) | |
7 | g.41966270C>G | CA367320312 | GLI3 | c.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 |
7 | g.41966270C>T | CA4230520 | GLI3 | c.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 |
7 | g.41966270_41966275dup | CA2580077126 | GLI3 | c.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 |
7 | g.41966271C>A | CA454662344 | GLI3 | c.2802G>T (p.Ala934=) c.2628G>T (p.Ala876=) n.2779G>T c.2625G>T (p.Ala875=) c.2799G>T (p.Ala933=) | |
7 | g.41966271C= | CA1702661211 | GLI3 | c.2802G= (p.Ala934=) c.2628G= (p.Ala876=) n.2779G= c.2625G= (p.Ala875=) c.2799G= (p.Ala933=) | |
7 | g.41966271C>G | CA454662346 | GLI3 | c.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 |
7 | g.41966271C>T | CA4230521 | GLI3 | c.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 |
7 | g.41966272G>A | CA4230522 | GLI3 | c.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 |
7 | g.41966272G>C | CA367320314 | GLI3 | c.2801C>G (p.Ala934Gly) c.2627C>G (p.Ala876Gly) n.2778C>G c.2624C>G (p.Ala875Gly) c.2798C>G (p.Ala933Gly) | |
7 | g.41966272G= | CA1702661212 | GLI3 | c.2801C= (p.Ala934=) c.2627C= (p.Ala876=) n.2778C= c.2624C= (p.Ala875=) c.2798C= (p.Ala933=) | |
7 | g.41966272G>T | CA367320313 | GLI3 | c.2801C>A (p.Ala934Glu) c.2627C>A (p.Ala876Glu) n.2778C>A c.2624C>A (p.Ala875Glu) c.2798C>A (p.Ala933Glu) | gnomAD v4 |
7 | g.41966273C>A | CA367320315 | GLI3 | c.2800G>T (p.Ala934Ser) c.2626G>T (p.Ala876Ser) n.2777G>T c.2623G>T (p.Ala875Ser) c.2797G>T (p.Ala933Ser) | |
7 | g.41966273C= | CA1702661213 | GLI3 | c.2800G= (p.Ala934=) c.2626G= (p.Ala876=) n.2777G= c.2623G= (p.Ala875=) c.2797G= (p.Ala933=) | |
7 | g.41966273C>G | CA130192 | GLI3 | c.2800G>C (p.Ala934Pro) c.2626G>C (p.Ala876Pro) n.2777G>C c.2623G>C (p.Ala875Pro) c.2797G>C (p.Ala933Pro) | ClinVar dbSNP |
7 | g.41966273C>T | CA367320316 | GLI3 | c.2800G>A (p.Ala934Thr) c.2626G>A (p.Ala876Thr) n.2777G>A c.2623G>A (p.Ala875Thr) c.2797G>A (p.Ala933Thr) | gnomAD v4 |
7 | g.41966274del | CA2695207660 | GLI3 | c.2799del (p.Tyr933Ter) c.2625del (p.Tyr875Ter) n.2776del c.2622del (p.Tyr874Ter) c.2796del (p.Tyr932Ter) | |
7 | g.41966274G>A | CA454662354 | GLI3 | c.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 |
7 | g.41966274G>C | CA342936 | GLI3 | c.2799C>G (p.Tyr933Ter) c.2625C>G (p.Tyr875Ter) n.2776C>G c.2622C>G (p.Tyr874Ter) c.2796C>G (p.Tyr932Ter) | dbSNP |
7 | g.41966274G= | CA1702661214 | GLI3 | c.2799C= (p.Tyr933=) c.2625C= (p.Tyr875=) n.2776C= c.2622C= (p.Tyr874=) c.2796C= (p.Tyr932=) | |
7 | g.41966274G>T | CA367320317 | GLI3 | c.2799C>A (p.Tyr933Ter) c.2625C>A (p.Tyr875Ter) n.2776C>A c.2622C>A (p.Tyr874Ter) c.2796C>A (p.Tyr932Ter) | gnomAD v4 |