Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |