Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.41965980dup | CA2682510066 | GLI3 | c.3098dup (p.Ala1034GlyfsTer?) c.2924dup (p.Ala976GlyfsTer?) n.3075dup c.2921dup (p.Ala975GlyfsTer?) c.3095dup (p.Ala1033GlyfsTer?) | gnomAD v4 |
7 | g.41965980del | CA454661849 | GLI3 | c.3098del (p.Pro1033ArgfsTer?) c.2924del (p.Pro975ArgfsTer?) n.3075del c.2921del (p.Pro974ArgfsTer?) c.3095del (p.Pro1032ArgfsTer?) | gnomAD v4 COSMIC |
7 | g.41965978G>A | CA367319161 | GLI3 | c.3095C>T (p.Pro1032Leu) c.2921C>T (p.Pro974Leu) n.3072C>T c.2918C>T (p.Pro973Leu) c.3092C>T (p.Pro1031Leu) | gnomAD v4 COSMIC |
7 | g.41965978G>C | CA367319159 | GLI3 | c.3095C>G (p.Pro1032Arg) c.2921C>G (p.Pro974Arg) n.3072C>G c.2918C>G (p.Pro973Arg) c.3092C>G (p.Pro1031Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41965978G= | CA1702661040 | GLI3 | c.3095C= (p.Pro1032=) c.2921C= (p.Pro974=) n.3072C= c.2918C= (p.Pro973=) c.3092C= (p.Pro1031=) | |
7 | g.41965978G>T | CA367319160 | GLI3 | c.3095C>A (p.Pro1032His) c.2921C>A (p.Pro974His) n.3072C>A c.2918C>A (p.Pro973His) c.3092C>A (p.Pro1031His) | gnomAD v4 |
7 | g.41965979G>A | CA367319162 | GLI3 | c.3094C>T (p.Pro1032Ser) c.2920C>T (p.Pro974Ser) n.3071C>T c.2917C>T (p.Pro973Ser) c.3091C>T (p.Pro1031Ser) | gnomAD v4 |
7 | g.41965979G>C | CA367319163 | GLI3 | c.3094C>G (p.Pro1032Ala) c.2920C>G (p.Pro974Ala) n.3071C>G c.2917C>G (p.Pro973Ala) c.3091C>G (p.Pro1031Ala) | |
7 | g.41965979G= | CA1702661041 | GLI3 | c.3094C= (p.Pro1032=) c.2920C= (p.Pro974=) n.3071C= c.2917C= (p.Pro973=) c.3091C= (p.Pro1031=) | |
7 | g.41965979G>T | CA367319164 | GLI3 | c.3094C>A (p.Pro1032Thr) c.2920C>A (p.Pro974Thr) n.3071C>A c.2917C>A (p.Pro973Thr) c.3091C>A (p.Pro1031Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965980G>A | CA454661853 | GLI3 | c.3093C>T (p.Asn1031=) c.2919C>T (p.Asn973=) n.3070C>T c.2916C>T (p.Asn972=) c.3090C>T (p.Asn1030=) | gnomAD v4 |
7 | g.41965980G>C | CA367319165 | GLI3 | c.3093C>G (p.Asn1031Lys) c.2919C>G (p.Asn973Lys) n.3070C>G c.2916C>G (p.Asn972Lys) c.3090C>G (p.Asn1030Lys) | |
7 | g.41965980G>T | CA367319166 | GLI3 | c.3093C>A (p.Asn1031Lys) c.2919C>A (p.Asn973Lys) n.3070C>A c.2916C>A (p.Asn972Lys) c.3090C>A (p.Asn1030Lys) | gnomAD v4 |
7 | g.41965981T>A | CA367319167 | GLI3 | c.3092A>T (p.Asn1031Ile) c.2918A>T (p.Asn973Ile) n.3069A>T c.2915A>T (p.Asn972Ile) c.3089A>T (p.Asn1030Ile) | |
7 | g.41965981T>C | CA156904732 | GLI3 | c.3092A>G (p.Asn1031Ser) c.2918A>G (p.Asn973Ser) n.3069A>G c.2915A>G (p.Asn972Ser) c.3089A>G (p.Asn1030Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965981T>G | CA367319168 | GLI3 | c.3092A>C (p.Asn1031Thr) c.2918A>C (p.Asn973Thr) n.3069A>C c.2915A>C (p.Asn972Thr) c.3089A>C (p.Asn1030Thr) | |
7 | g.41965981T= | CA1702661042 | GLI3 | c.3092A= (p.Asn1031=) c.2918A= (p.Asn973=) n.3069A= c.2915A= (p.Asn972=) c.3089A= (p.Asn1030=) | |
7 | g.41965982T>A | CA367319169 | GLI3 | c.3091A>T (p.Asn1031Tyr) c.2917A>T (p.Asn973Tyr) n.3068A>T c.2914A>T (p.Asn972Tyr) c.3088A>T (p.Asn1030Tyr) | |
7 | g.41965982T>C | CA367319170 | GLI3 | c.3091A>G (p.Asn1031Asp) c.2917A>G (p.Asn973Asp) n.3068A>G c.2914A>G (p.Asn972Asp) c.3088A>G (p.Asn1030Asp) | |
7 | g.41965982T>G | CA367319171 | GLI3 | c.3091A>C (p.Asn1031His) c.2917A>C (p.Asn973His) n.3068A>C c.2914A>C (p.Asn972His) c.3088A>C (p.Asn1030His) | |
7 | g.41965983G>A | CA4230457 | GLI3 | c.3090C>T (p.Cys1030=) c.2916C>T (p.Cys972=) n.3067C>T c.2913C>T (p.Cys971=) c.3087C>T (p.Cys1029=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41965983G>C | CA367319172 | GLI3 | c.3090C>G (p.Cys1030Trp) c.2916C>G (p.Cys972Trp) n.3067C>G c.2913C>G (p.Cys971Trp) c.3087C>G (p.Cys1029Trp) | |
7 | g.41965983G= | CA1702661043 | GLI3 | c.3090C= (p.Cys1030=) c.2916C= (p.Cys972=) n.3067C= c.2913C= (p.Cys971=) c.3087C= (p.Cys1029=) | |
7 | g.41965983G>T | CA367319173 | GLI3 | c.3090C>A (p.Cys1030Ter) c.2916C>A (p.Cys972Ter) n.3067C>A c.2913C>A (p.Cys971Ter) c.3087C>A (p.Cys1029Ter) | |
7 | g.41965984C>A | CA367319174 | GLI3 | c.3089G>T (p.Cys1030Phe) c.2915G>T (p.Cys972Phe) n.3066G>T c.2912G>T (p.Cys971Phe) c.3086G>T (p.Cys1029Phe) | |
7 | g.41965984C>G | CA367319175 | GLI3 | c.3089G>C (p.Cys1030Ser) c.2915G>C (p.Cys972Ser) n.3066G>C c.2912G>C (p.Cys971Ser) c.3086G>C (p.Cys1029Ser) | |
7 | g.41965984C>T | CA367319176 | GLI3 | c.3089G>A (p.Cys1030Tyr) c.2915G>A (p.Cys972Tyr) n.3066G>A c.2912G>A (p.Cys971Tyr) c.3086G>A (p.Cys1029Tyr) | |
7 | g.41965985A= | CA1702661044 | GLI3 | c.3088T= (p.Cys1030=) c.2914T= (p.Cys972=) n.3065T= c.2911T= (p.Cys971=) c.3085T= (p.Cys1029=) | |
7 | g.41965985A>C | CA4230458 | GLI3 | c.3088T>G (p.Cys1030Gly) c.2914T>G (p.Cys972Gly) n.3065T>G c.2911T>G (p.Cys971Gly) c.3085T>G (p.Cys1029Gly) | dbSNP ExAC gnomAD v2 |
7 | g.41965985A>G | CA367319177 | GLI3 | c.3088T>C (p.Cys1030Arg) c.2914T>C (p.Cys972Arg) n.3065T>C c.2911T>C (p.Cys971Arg) c.3085T>C (p.Cys1029Arg) | gnomAD v4 |
7 | g.41965985A>T | CA367319178 | GLI3 | c.3088T>A (p.Cys1030Ser) c.2914T>A (p.Cys972Ser) n.3065T>A c.2911T>A (p.Cys971Ser) c.3085T>A (p.Cys1029Ser) | |
7 | g.41965986G>A | CA454661854 | GLI3 | c.3087C>T (p.Ser1029=) c.2913C>T (p.Ser971=) n.3064C>T c.2910C>T (p.Ser970=) c.3084C>T (p.Ser1028=) | |
7 | g.41965986G>C | CA367319180 | GLI3 | c.3087C>G (p.Ser1029Arg) c.2913C>G (p.Ser971Arg) n.3064C>G c.2910C>G (p.Ser970Arg) c.3084C>G (p.Ser1028Arg) | gnomAD v4 |
7 | g.41965986G>T | CA367319179 | GLI3 | c.3087C>A (p.Ser1029Arg) c.2913C>A (p.Ser971Arg) n.3064C>A c.2910C>A (p.Ser970Arg) c.3084C>A (p.Ser1028Arg) | gnomAD v4 |
7 | g.41965994_41966002dup | CA4230459 | GLI3 | c.3079_3087dup (p.Ser1029_Cys1030insLeuSerSer) c.2905_2913dup (p.Ser971_Cys972insLeuSerSer) n.3056_3064dup c.2902_2910dup (p.Ser970_Cys971insLeuSerSer) c.3076_3084dup (p.Ser1028_Cys1029insLeuSerSer) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965987C>A | CA367319181 | GLI3 | c.3086G>T (p.Ser1029Ile) c.2912G>T (p.Ser971Ile) n.3063G>T c.2909G>T (p.Ser970Ile) c.3083G>T (p.Ser1028Ile) | gnomAD v4 |
7 | g.41965987C>G | CA367319182 | GLI3 | c.3086G>C (p.Ser1029Thr) c.2912G>C (p.Ser971Thr) n.3063G>C c.2909G>C (p.Ser970Thr) c.3083G>C (p.Ser1028Thr) | |
7 | g.41965987C>T | CA367319183 | GLI3 | c.3086G>A (p.Ser1029Asn) c.2912G>A (p.Ser971Asn) n.3063G>A c.2909G>A (p.Ser970Asn) c.3083G>A (p.Ser1028Asn) | COSMIC |
7 | g.41965988T>A | CA367319184 | GLI3 | c.3085A>T (p.Ser1029Cys) c.2911A>T (p.Ser971Cys) n.3062A>T c.2908A>T (p.Ser970Cys) c.3082A>T (p.Ser1028Cys) | |
7 | g.41965988T>C | CA367319185 | GLI3 | c.3085A>G (p.Ser1029Gly) c.2911A>G (p.Ser971Gly) n.3062A>G c.2908A>G (p.Ser970Gly) c.3082A>G (p.Ser1028Gly) | |
7 | g.41965988T>G | CA367319186 | GLI3 | c.3085A>C (p.Ser1029Arg) c.2911A>C (p.Ser971Arg) n.3062A>C c.2908A>C (p.Ser970Arg) c.3082A>C (p.Ser1028Arg) | |
7 | g.41965988_41965989delinsTG | CA1702661045 | GLI3 | c.3084_3085delinsCA (p.Ser1028=) c.2910_2911delinsCA (p.Ser970=) n.3061_3062delinsCA c.2907_2908delinsCA (p.Ser969=) c.3081_3082delinsCA (p.Ser1027=) | |
7 | g.41965988_41965990delinsTGC | CA1702661046 | GLI3 | c.3083_3085delinsGCA (p.Ser1028=) c.2909_2911delinsGCA (p.Ser970=) n.3060_3062delinsGCA c.2906_2908delinsGCA (p.Ser969=) c.3080_3082delinsGCA (p.Ser1027=) | |
7 | g.41965989del | CA917990639 | GLI3 | c.3084del (p.Ser1028ArgfsTer?) c.2910del (p.Ser970ArgfsTer?) n.3061del c.2907del (p.Ser969ArgfsTer?) c.3081del (p.Ser1027ArgfsTer?) | dbSNP |
7 | g.41965989G>A | CA291096 | GLI3 | c.3084C>T (p.Ser1028=) c.2910C>T (p.Ser970=) n.3061C>T c.2907C>T (p.Ser969=) c.3081C>T (p.Ser1027=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965989G>C | CA367319187 | GLI3 | c.3084C>G (p.Ser1028Arg) c.2910C>G (p.Ser970Arg) n.3061C>G c.2907C>G (p.Ser969Arg) c.3081C>G (p.Ser1027Arg) | gnomAD v4 |
7 | g.41965989G= | CA1702661048 | GLI3 | c.3084C= (p.Ser1028=) c.2910C= (p.Ser970=) n.3061C= c.2907C= (p.Ser969=) c.3081C= (p.Ser1027=) | |
7 | g.41965989G>T | CA367319188 | GLI3 | c.3084C>A (p.Ser1028Arg) c.2910C>A (p.Ser970Arg) n.3061C>A c.2907C>A (p.Ser969Arg) c.3081C>A (p.Ser1027Arg) | gnomAD v4 |
7 | g.41965989_41965990del | CA2499218886 | GLI3 | c.3083_3084del (p.Ser1028LysfsTer?) c.2909_2910del (p.Ser970LysfsTer?) n.3060_3061del c.2906_2907del (p.Ser969LysfsTer?) c.3080_3081del (p.Ser1027LysfsTer?) | ClinVar dbSNP |
7 | g.41965989_41965990delinsA | CA917990640 | GLI3 | c.3083_3084delinsT (p.Ser1028IlefsTer?) c.2909_2910delinsT (p.Ser970IlefsTer?) n.3060_3061delinsT c.2906_2907delinsT (p.Ser969IlefsTer?) c.3080_3081delinsT (p.Ser1027IlefsTer?) | dbSNP |
7 | g.41965989_41965990delinsAA | CA10605864 | GLI3 | c.3083_3084delinsTT (p.Ser1028Ile) c.2909_2910delinsTT (p.Ser970Ile) n.3060_3061delinsTT c.2906_2907delinsTT (p.Ser969Ile) c.3080_3081delinsTT (p.Ser1027Ile) | ClinVar dbSNP |
7 | g.41965989_41965990delinsGC | CA1702661047 | GLI3 | c.3083_3084delinsGC (p.Ser1028=) c.2909_2910delinsGC (p.Ser970=) n.3060_3061delinsGC c.2906_2907delinsGC (p.Ser969=) c.3080_3081delinsGC (p.Ser1027=) | |
7 | g.41965990C>A | CA291094 | GLI3 | c.3083G>T (p.Ser1028Ile) c.2909G>T (p.Ser970Ile) n.3060G>T c.2906G>T (p.Ser969Ile) c.3080G>T (p.Ser1027Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965990C= | CA1702661049 | GLI3 | c.3083G= (p.Ser1028=) c.2909G= (p.Ser970=) n.3060G= c.2906G= (p.Ser969=) c.3080G= (p.Ser1027=) | |
7 | g.41965990C>G | CA367319189 | GLI3 | c.3083G>C (p.Ser1028Thr) c.2909G>C (p.Ser970Thr) n.3060G>C c.2906G>C (p.Ser969Thr) c.3080G>C (p.Ser1027Thr) | |
7 | g.41965990C>T | CA367319190 | GLI3 | c.3083G>A (p.Ser1028Asn) c.2909G>A (p.Ser970Asn) n.3060G>A c.2906G>A (p.Ser969Asn) c.3080G>A (p.Ser1027Asn) | |
7 | g.41965991T>A | CA367319191 | GLI3 | c.3082A>T (p.Ser1028Cys) c.2908A>T (p.Ser970Cys) n.3059A>T c.2905A>T (p.Ser969Cys) c.3079A>T (p.Ser1027Cys) | |
7 | g.41965991T>C | CA367319193 | GLI3 | c.3082A>G (p.Ser1028Gly) c.2908A>G (p.Ser970Gly) n.3059A>G c.2905A>G (p.Ser969Gly) c.3079A>G (p.Ser1027Gly) | dbSNP gnomAD v4 |
7 | g.41965991T>G | CA367319192 | GLI3 | c.3082A>C (p.Ser1028Arg) c.2908A>C (p.Ser970Arg) n.3059A>C c.2905A>C (p.Ser969Arg) c.3079A>C (p.Ser1027Arg) | |
7 | g.41965991T= | CA1702661050 | GLI3 | c.3082A= (p.Ser1028=) c.2908A= (p.Ser970=) n.3059A= c.2905A= (p.Ser969=) c.3079A= (p.Ser1027=) | |
7 | g.41965992G>A | CA454661855 | GLI3 | c.3081C>T (p.Leu1027=) c.2907C>T (p.Leu969=) n.3058C>T c.2904C>T (p.Leu968=) c.3078C>T (p.Leu1026=) | gnomAD v4 |
7 | g.41965992G>C | CA454661856 | GLI3 | c.3081C>G (p.Leu1027=) c.2907C>G (p.Leu969=) n.3058C>G c.2904C>G (p.Leu968=) c.3078C>G (p.Leu1026=) | dbSNP |
7 | g.41965992G= | CA1702661051 | GLI3 | c.3081C= (p.Leu1027=) c.2907C= (p.Leu969=) n.3058C= c.2904C= (p.Leu968=) c.3078C= (p.Leu1026=) | |
7 | g.41965992G>T | CA454661857 | GLI3 | c.3081C>A (p.Leu1027=) c.2907C>A (p.Leu969=) n.3058C>A c.2904C>A (p.Leu968=) c.3078C>A (p.Leu1026=) | gnomAD v4 |
7 | g.41965993A>C | CA367319194 | GLI3 | c.3080T>G (p.Leu1027Arg) c.2906T>G (p.Leu969Arg) n.3057T>G c.2903T>G (p.Leu968Arg) c.3077T>G (p.Leu1026Arg) | |
7 | g.41965993A>G | CA367319195 | GLI3 | c.3080T>C (p.Leu1027Pro) c.2906T>C (p.Leu969Pro) n.3057T>C c.2903T>C (p.Leu968Pro) c.3077T>C (p.Leu1026Pro) | |
7 | g.41965993A>T | CA367319196 | GLI3 | c.3080T>A (p.Leu1027His) c.2906T>A (p.Leu969His) n.3057T>A c.2903T>A (p.Leu968His) c.3077T>A (p.Leu1026His) | |
7 | g.41965994G>A | CA4230460 | GLI3 | c.3079C>T (p.Leu1027Phe) c.2905C>T (p.Leu969Phe) n.3056C>T c.2902C>T (p.Leu968Phe) c.3076C>T (p.Leu1026Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41965994G>C | CA367319197 | GLI3 | c.3079C>G (p.Leu1027Val) c.2905C>G (p.Leu969Val) n.3056C>G c.2902C>G (p.Leu968Val) c.3076C>G (p.Leu1026Val) | |
7 | g.41965994G= | CA1702661052 | GLI3 | c.3079C= (p.Leu1027=) c.2905C= (p.Leu969=) n.3056C= c.2902C= (p.Leu968=) c.3076C= (p.Leu1026=) | |
7 | g.41965994G>T | CA367319198 | GLI3 | c.3079C>A (p.Leu1027Ile) c.2905C>A (p.Leu969Ile) n.3056C>A c.2902C>A (p.Leu968Ile) c.3076C>A (p.Leu1026Ile) | |
7 | g.41965995G>A | CA454661858 | GLI3 | c.3078C>T (p.Ser1026=) c.2904C>T (p.Ser968=) n.3055C>T c.2901C>T (p.Ser967=) c.3075C>T (p.Ser1025=) | |
7 | g.41965995G>C | CA367319199 | GLI3 | c.3078C>G (p.Ser1026Arg) c.2904C>G (p.Ser968Arg) n.3055C>G c.2901C>G (p.Ser967Arg) c.3075C>G (p.Ser1025Arg) | ClinVar dbSNP |
7 | g.41965995G= | CA1702661053 | GLI3 | c.3078C= (p.Ser1026=) c.2904C= (p.Ser968=) n.3055C= c.2901C= (p.Ser967=) c.3075C= (p.Ser1025=) | |
7 | g.41965995G>T | CA367319200 | GLI3 | c.3078C>A (p.Ser1026Arg) c.2904C>A (p.Ser968Arg) n.3055C>A c.2901C>A (p.Ser967Arg) c.3075C>A (p.Ser1025Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41965996C>A | CA367319201 | GLI3 | c.3077G>T (p.Ser1026Ile) c.2903G>T (p.Ser968Ile) n.3054G>T c.2900G>T (p.Ser967Ile) c.3074G>T (p.Ser1025Ile) | gnomAD v4 |
7 | g.41965996C>G | CA367319202 | GLI3 | c.3077G>C (p.Ser1026Thr) c.2903G>C (p.Ser968Thr) n.3054G>C c.2900G>C (p.Ser967Thr) c.3074G>C (p.Ser1025Thr) | |
7 | g.41965996C>T | CA367319203 | GLI3 | c.3077G>A (p.Ser1026Asn) c.2903G>A (p.Ser968Asn) n.3054G>A c.2900G>A (p.Ser967Asn) c.3074G>A (p.Ser1025Asn) | |
7 | g.41965997T>A | CA367319205 | GLI3 | c.3076A>T (p.Ser1026Cys) c.2902A>T (p.Ser968Cys) n.3053A>T c.2899A>T (p.Ser967Cys) c.3073A>T (p.Ser1025Cys) | |
7 | g.41965997T>C | CA156904776 | GLI3 | c.3076A>G (p.Ser1026Gly) c.2902A>G (p.Ser968Gly) n.3053A>G c.2899A>G (p.Ser967Gly) c.3073A>G (p.Ser1025Gly) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41965997T>G | CA367319204 | GLI3 | c.3076A>C (p.Ser1026Arg) c.2902A>C (p.Ser968Arg) n.3053A>C c.2899A>C (p.Ser967Arg) c.3073A>C (p.Ser1025Arg) | |
7 | g.41965997T= | CA1702661054 | GLI3 | c.3076A= (p.Ser1026=) c.2902A= (p.Ser968=) n.3053A= c.2899A= (p.Ser967=) c.3073A= (p.Ser1025=) | |
7 | g.41965998G>A | CA454661859 | GLI3 | c.3075C>T (p.Ser1025=) c.2901C>T (p.Ser967=) n.3052C>T c.2898C>T (p.Ser966=) c.3072C>T (p.Ser1024=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41965998G>C | CA367319206 | GLI3 | c.3075C>G (p.Ser1025Arg) c.2901C>G (p.Ser967Arg) n.3052C>G c.2898C>G (p.Ser966Arg) c.3072C>G (p.Ser1024Arg) | |
7 | g.41965998G= | CA1702661055 | GLI3 | c.3075C= (p.Ser1025=) c.2901C= (p.Ser967=) n.3052C= c.2898C= (p.Ser966=) c.3072C= (p.Ser1024=) | |
7 | g.41965998G>T | CA367319207 | GLI3 | c.3075C>A (p.Ser1025Arg) c.2901C>A (p.Ser967Arg) n.3052C>A c.2898C>A (p.Ser966Arg) c.3072C>A (p.Ser1024Arg) | gnomAD v4 |
7 | g.41965999C>A | CA367319208 | GLI3 | c.3074G>T (p.Ser1025Ile) c.2900G>T (p.Ser967Ile) n.3051G>T c.2897G>T (p.Ser966Ile) c.3071G>T (p.Ser1024Ile) | gnomAD v4 |
7 | g.41965999C= | CA1702661056 | GLI3 | c.3074G= (p.Ser1025=) c.2900G= (p.Ser967=) n.3051G= c.2897G= (p.Ser966=) c.3071G= (p.Ser1024=) | |
7 | g.41965999C>G | CA367319210 | GLI3 | c.3074G>C (p.Ser1025Thr) c.2900G>C (p.Ser967Thr) n.3051G>C c.2897G>C (p.Ser966Thr) c.3071G>C (p.Ser1024Thr) | |
7 | g.41965999C>T | CA367319209 | GLI3 | c.3074G>A (p.Ser1025Asn) c.2900G>A (p.Ser967Asn) n.3051G>A c.2897G>A (p.Ser966Asn) c.3071G>A (p.Ser1024Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966000T>A | CA367319211 | GLI3 | c.3073A>T (p.Ser1025Cys) c.2899A>T (p.Ser967Cys) n.3050A>T c.2896A>T (p.Ser966Cys) c.3070A>T (p.Ser1024Cys) | |
7 | g.41966000T>C | CA367319213 | GLI3 | c.3073A>G (p.Ser1025Gly) c.2899A>G (p.Ser967Gly) n.3050A>G c.2896A>G (p.Ser966Gly) c.3070A>G (p.Ser1024Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966000T>G | CA367319212 | GLI3 | c.3073A>C (p.Ser1025Arg) c.2899A>C (p.Ser967Arg) n.3050A>C c.2896A>C (p.Ser966Arg) c.3070A>C (p.Ser1024Arg) | dbSNP |
7 | g.41966000T= | CA1702661057 | GLI3 | c.3073A= (p.Ser1025=) c.2899A= (p.Ser967=) n.3050A= c.2896A= (p.Ser966=) c.3070A= (p.Ser1024=) | |
7 | g.41966001G>A | CA156904787 | GLI3 | c.3072C>T (p.Phe1024=) c.2898C>T (p.Phe966=) n.3049C>T c.2895C>T (p.Phe965=) c.3069C>T (p.Phe1023=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966001G>C | CA367319214 | GLI3 | c.3072C>G (p.Phe1024Leu) c.2898C>G (p.Phe966Leu) n.3049C>G c.2895C>G (p.Phe965Leu) c.3069C>G (p.Phe1023Leu) | |
7 | g.41966001G= | CA1702661058 | GLI3 | c.3072C= (p.Phe1024=) c.2898C= (p.Phe966=) n.3049C= c.2895C= (p.Phe965=) c.3069C= (p.Phe1023=) | |
7 | g.41966001G>T | CA367319215 | GLI3 | c.3072C>A (p.Phe1024Leu) c.2898C>A (p.Phe966Leu) n.3049C>A c.2895C>A (p.Phe965Leu) c.3069C>A (p.Phe1023Leu) | |
7 | g.41966002A>C | CA367319216 | GLI3 | c.3071T>G (p.Phe1024Cys) c.2897T>G (p.Phe966Cys) n.3048T>G c.2894T>G (p.Phe965Cys) c.3068T>G (p.Phe1023Cys) | COSMIC |
7 | g.41966002A>G | CA367319217 | GLI3 | c.3071T>C (p.Phe1024Ser) c.2897T>C (p.Phe966Ser) n.3048T>C c.2894T>C (p.Phe965Ser) c.3068T>C (p.Phe1023Ser) | |
7 | g.41966002A>T | CA367319218 | GLI3 | c.3071T>A (p.Phe1024Tyr) c.2897T>A (p.Phe966Tyr) n.3048T>A c.2894T>A (p.Phe965Tyr) c.3068T>A (p.Phe1023Tyr) | |
7 | g.41966003A>C | CA367319219 | GLI3 | c.3070T>G (p.Phe1024Val) c.2896T>G (p.Phe966Val) n.3047T>G c.2893T>G (p.Phe965Val) c.3067T>G (p.Phe1023Val) | |
7 | g.41966003A>G | CA367319220 | GLI3 | c.3070T>C (p.Phe1024Leu) c.2896T>C (p.Phe966Leu) n.3047T>C c.2893T>C (p.Phe965Leu) c.3067T>C (p.Phe1023Leu) | |
7 | g.41966003A>T | CA367319221 | GLI3 | c.3070T>A (p.Phe1024Ile) c.2896T>A (p.Phe966Ile) n.3047T>A c.2893T>A (p.Phe965Ile) c.3067T>A (p.Phe1023Ile) | |
7 | g.41966004G>A | CA454661862 | GLI3 | c.3069C>T (p.Arg1023=) c.2895C>T (p.Arg965=) n.3046C>T c.2892C>T (p.Arg964=) c.3066C>T (p.Arg1022=) | |
7 | g.41966004G>C | CA454661861 | GLI3 | c.3069C>G (p.Arg1023=) c.2895C>G (p.Arg965=) n.3046C>G c.2892C>G (p.Arg964=) c.3066C>G (p.Arg1022=) | |
7 | g.41966004G>T | CA454661860 | GLI3 | c.3069C>A (p.Arg1023=) c.2895C>A (p.Arg965=) n.3046C>A c.2892C>A (p.Arg964=) c.3066C>A (p.Arg1022=) | gnomAD v4 |
7 | g.41966005C>A | CA367319222 | GLI3 | c.3068G>T (p.Arg1023Leu) c.2894G>T (p.Arg965Leu) n.3045G>T c.2891G>T (p.Arg964Leu) c.3065G>T (p.Arg1022Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966005C= | CA1702661059 | GLI3 | c.3068G= (p.Arg1023=) c.2894G= (p.Arg965=) n.3045G= c.2891G= (p.Arg964=) c.3065G= (p.Arg1022=) | |
7 | g.41966005C>G | CA367319223 | GLI3 | c.3068G>C (p.Arg1023Pro) c.2894G>C (p.Arg965Pro) n.3045G>C c.2891G>C (p.Arg964Pro) c.3065G>C (p.Arg1022Pro) | |
7 | g.41966005C>T | CA367319224 | GLI3 | c.3068G>A (p.Arg1023His) c.2894G>A (p.Arg965His) n.3045G>A c.2891G>A (p.Arg964His) c.3065G>A (p.Arg1022His) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41966006G>A | CA367319225 | GLI3 | c.3067C>T (p.Arg1023Cys) c.2893C>T (p.Arg965Cys) n.3044C>T c.2890C>T (p.Arg964Cys) c.3064C>T (p.Arg1022Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.41966006G>C | CA4230461 | GLI3 | c.3067C>G (p.Arg1023Gly) c.2893C>G (p.Arg965Gly) n.3044C>G c.2890C>G (p.Arg964Gly) c.3064C>G (p.Arg1022Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41966006G= | CA1702661060 | GLI3 | c.3067C= (p.Arg1023=) c.2893C= (p.Arg965=) n.3044C= c.2890C= (p.Arg964=) c.3064C= (p.Arg1022=) | |
7 | g.41966006G>T | CA367319226 | GLI3 | c.3067C>A (p.Arg1023Ser) c.2893C>A (p.Arg965Ser) n.3044C>A c.2890C>A (p.Arg964Ser) c.3064C>A (p.Arg1022Ser) | gnomAD v4 |
7 | g.41966007C>A | CA454661865 | GLI3 | c.3066G>T (p.Pro1022=) c.2892G>T (p.Pro964=) n.3043G>T c.2889G>T (p.Pro963=) c.3063G>T (p.Pro1021=) | |
7 | g.41966007C= | CA1702661061 | GLI3 | c.3066G= (p.Pro1022=) c.2892G= (p.Pro964=) n.3043G= c.2889G= (p.Pro963=) c.3063G= (p.Pro1021=) | |
7 | g.41966007C>G | CA454661864 | GLI3 | c.3066G>C (p.Pro1022=) c.2892G>C (p.Pro964=) n.3043G>C c.2889G>C (p.Pro963=) c.3063G>C (p.Pro1021=) | gnomAD v4 |
7 | g.41966007C>T | CA454661863 | GLI3 | c.3066G>A (p.Pro1022=) c.2892G>A (p.Pro964=) n.3043G>A c.2889G>A (p.Pro963=) c.3063G>A (p.Pro1021=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41966008G>A | CA367319227 | GLI3 | c.3065C>T (p.Pro1022Leu) c.2891C>T (p.Pro964Leu) n.3042C>T c.2888C>T (p.Pro963Leu) c.3062C>T (p.Pro1021Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.41966008G>C | CA4230462 | GLI3 | c.3065C>G (p.Pro1022Arg) c.2891C>G (p.Pro964Arg) n.3042C>G c.2888C>G (p.Pro963Arg) c.3062C>G (p.Pro1021Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966008G= | CA1702661062 | GLI3 | c.3065C= (p.Pro1022=) c.2891C= (p.Pro964=) n.3042C= c.2888C= (p.Pro963=) c.3062C= (p.Pro1021=) | |
7 | g.41966008G>T | CA367319228 | GLI3 | c.3065C>A (p.Pro1022Gln) c.2891C>A (p.Pro964Gln) n.3042C>A c.2888C>A (p.Pro963Gln) c.3062C>A (p.Pro1021Gln) | gnomAD v4 |
7 | g.41966009G>A | CA367319229 | GLI3 | c.3064C>T (p.Pro1022Ser) c.2890C>T (p.Pro964Ser) n.3041C>T c.2887C>T (p.Pro963Ser) c.3061C>T (p.Pro1021Ser) | gnomAD v4 |
7 | g.41966009G>C | CA367319230 | GLI3 | c.3064C>G (p.Pro1022Ala) c.2890C>G (p.Pro964Ala) n.3041C>G c.2887C>G (p.Pro963Ala) c.3061C>G (p.Pro1021Ala) | |
7 | g.41966009G= | CA1702661063 | GLI3 | c.3064C= (p.Pro1022=) c.2890C= (p.Pro964=) n.3041C= c.2887C= (p.Pro963=) c.3061C= (p.Pro1021=) | |
7 | g.41966009G>T | CA367319231 | GLI3 | c.3064C>A (p.Pro1022Thr) c.2890C>A (p.Pro964Thr) n.3041C>A c.2887C>A (p.Pro963Thr) c.3061C>A (p.Pro1021Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966010C>A | CA454661866 | GLI3 | c.3063G>T (p.Val1021=) c.2889G>T (p.Val963=) n.3040G>T c.2886G>T (p.Val962=) c.3060G>T (p.Val1020=) | gnomAD v4 |
7 | g.41966010C>G | CA454661868 | GLI3 | c.3063G>C (p.Val1021=) c.2889G>C (p.Val963=) n.3040G>C c.2886G>C (p.Val962=) c.3060G>C (p.Val1020=) | |
7 | g.41966010C>T | CA454661867 | GLI3 | c.3063G>A (p.Val1021=) c.2889G>A (p.Val963=) n.3040G>A c.2886G>A (p.Val962=) c.3060G>A (p.Val1020=) | |
7 | g.41966011A>C | CA367319232 | GLI3 | c.3062T>G (p.Val1021Gly) c.2888T>G (p.Val963Gly) n.3039T>G c.2885T>G (p.Val962Gly) c.3059T>G (p.Val1020Gly) | |
7 | g.41966011A>G | CA367319233 | GLI3 | c.3062T>C (p.Val1021Ala) c.2888T>C (p.Val963Ala) n.3039T>C c.2885T>C (p.Val962Ala) c.3059T>C (p.Val1020Ala) | |
7 | g.41966011A>T | CA367319234 | GLI3 | c.3062T>A (p.Val1021Glu) c.2888T>A (p.Val963Glu) n.3039T>A c.2885T>A (p.Val962Glu) c.3059T>A (p.Val1020Glu) | |
7 | g.41966012C>A | CA367319236 | GLI3 | c.3061G>T (p.Val1021Leu) c.2887G>T (p.Val963Leu) n.3038G>T c.2884G>T (p.Val962Leu) c.3058G>T (p.Val1020Leu) | gnomAD v4 |
7 | g.41966012C>G | CA367319237 | GLI3 | c.3061G>C (p.Val1021Leu) c.2887G>C (p.Val963Leu) n.3038G>C c.2884G>C (p.Val962Leu) c.3058G>C (p.Val1020Leu) | |
7 | g.41966012C>T | CA367319235 | GLI3 | c.3061G>A (p.Val1021Met) c.2887G>A (p.Val963Met) n.3038G>A c.2884G>A (p.Val962Met) c.3058G>A (p.Val1020Met) | gnomAD v4 |
7 | g.41966013A>C | CA454661869 | GLI3 | c.3060T>G (p.Arg1020=) c.2886T>G (p.Arg962=) n.3037T>G c.2883T>G (p.Arg961=) c.3057T>G (p.Arg1019=) | |
7 | g.41966013A>G | CA454661870 | GLI3 | c.3060T>C (p.Arg1020=) c.2886T>C (p.Arg962=) n.3037T>C c.2883T>C (p.Arg961=) c.3057T>C (p.Arg1019=) | |
7 | g.41966013A>T | CA454661871 | GLI3 | c.3060T>A (p.Arg1020=) c.2886T>A (p.Arg962=) n.3037T>A c.2883T>A (p.Arg961=) c.3057T>A (p.Arg1019=) | |
7 | g.41966014C>A | CA367319238 | GLI3 | c.3059G>T (p.Arg1020Leu) c.2885G>T (p.Arg962Leu) n.3036G>T c.2882G>T (p.Arg961Leu) c.3056G>T (p.Arg1019Leu) | dbSNP gnomAD v4 |
7 | g.41966014C= | CA1702661064 | GLI3 | c.3059G= (p.Arg1020=) c.2885G= (p.Arg962=) n.3036G= c.2882G= (p.Arg961=) c.3056G= (p.Arg1019=) | |
7 | g.41966014C>G | CA367319239 | GLI3 | c.3059G>C (p.Arg1020Pro) c.2885G>C (p.Arg962Pro) n.3036G>C c.2882G>C (p.Arg961Pro) c.3056G>C (p.Arg1019Pro) | dbSNP gnomAD v4 |
7 | g.41966014C>T | CA367319240 | GLI3 | c.3059G>A (p.Arg1020His) c.2885G>A (p.Arg962His) n.3036G>A c.2882G>A (p.Arg961His) c.3056G>A (p.Arg1019His) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966015G>A | CA4230463 | GLI3 | c.3058C>T (p.Arg1020Cys) c.2884C>T (p.Arg962Cys) n.3035C>T c.2881C>T (p.Arg961Cys) c.3055C>T (p.Arg1019Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966015G>C | CA367319241 | GLI3 | c.3058C>G (p.Arg1020Gly) c.2884C>G (p.Arg962Gly) n.3035C>G c.2881C>G (p.Arg961Gly) c.3055C>G (p.Arg1019Gly) | |
7 | g.41966015G= | CA1702661065 | GLI3 | c.3058C= (p.Arg1020=) c.2884C= (p.Arg962=) n.3035C= c.2881C= (p.Arg961=) c.3055C= (p.Arg1019=) | |
7 | g.41966015G>T | CA367319243 | GLI3 | c.3058C>A (p.Arg1020Ser) c.2884C>A (p.Arg962Ser) n.3035C>A c.2881C>A (p.Arg961Ser) c.3055C>A (p.Arg1019Ser) | gnomAD v4 |
7 | g.41966016A>C | CA454661872 | GLI3 | c.3057T>G (p.Pro1019=) c.2883T>G (p.Pro961=) n.3034T>G c.2880T>G (p.Pro960=) c.3054T>G (p.Pro1018=) | |
7 | g.41966016A>G | CA454661873 | GLI3 | c.3057T>C (p.Pro1019=) c.2883T>C (p.Pro961=) n.3034T>C c.2880T>C (p.Pro960=) c.3054T>C (p.Pro1018=) | gnomAD v4 |
7 | g.41966016A>T | CA454661874 | GLI3 | c.3057T>A (p.Pro1019=) c.2883T>A (p.Pro961=) n.3034T>A c.2880T>A (p.Pro960=) c.3054T>A (p.Pro1018=) | |
7 | g.41966017G>A | CA4230464 | GLI3 | c.3056C>T (p.Pro1019Leu) c.2882C>T (p.Pro961Leu) n.3033C>T c.2879C>T (p.Pro960Leu) c.3053C>T (p.Pro1018Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41966017G>C | CA367319247 | GLI3 | c.3056C>G (p.Pro1019Arg) c.2882C>G (p.Pro961Arg) n.3033C>G c.2879C>G (p.Pro960Arg) c.3053C>G (p.Pro1018Arg) | |
7 | g.41966017G= | CA1702661066 | GLI3 | c.3056C= (p.Pro1019=) c.2882C= (p.Pro961=) n.3033C= c.2879C= (p.Pro960=) c.3053C= (p.Pro1018=) | |
7 | g.41966017G>T | CA367319249 | GLI3 | c.3056C>A (p.Pro1019His) c.2882C>A (p.Pro961His) n.3033C>A c.2879C>A (p.Pro960His) c.3053C>A (p.Pro1018His) | |
7 | g.41966018G>A | CA367319252 | GLI3 | c.3055C>T (p.Pro1019Ser) c.2881C>T (p.Pro961Ser) n.3032C>T c.2878C>T (p.Pro960Ser) c.3052C>T (p.Pro1018Ser) | gnomAD v4 |
7 | g.41966018G>C | CA367319254 | GLI3 | c.3055C>G (p.Pro1019Ala) c.2881C>G (p.Pro961Ala) n.3032C>G c.2878C>G (p.Pro960Ala) c.3052C>G (p.Pro1018Ala) | |
7 | g.41966018G= | CA1702661067 | GLI3 | c.3055C= (p.Pro1019=) c.2881C= (p.Pro961=) n.3032C= c.2878C= (p.Pro960=) c.3052C= (p.Pro1018=) | |
7 | g.41966018G>T | CA367319256 | GLI3 | c.3055C>A (p.Pro1019Thr) c.2881C>A (p.Pro961Thr) n.3032C>A c.2878C>A (p.Pro960Thr) c.3052C>A (p.Pro1018Thr) | dbSNP gnomAD v4 |
7 | g.41966019C>A | CA454661875 | GLI3 | c.3054G>T (p.Leu1018=) c.2880G>T (p.Leu960=) n.3031G>T c.2877G>T (p.Leu959=) c.3051G>T (p.Leu1017=) | gnomAD v4 |
7 | g.41966019C= | CA1702661068 | GLI3 | c.3054G= (p.Leu1018=) c.2880G= (p.Leu960=) n.3031G= c.2877G= (p.Leu959=) c.3051G= (p.Leu1017=) | |
7 | g.41966019C>G | CA454661876 | GLI3 | c.3054G>C (p.Leu1018=) c.2880G>C (p.Leu960=) n.3031G>C c.2877G>C (p.Leu959=) c.3051G>C (p.Leu1017=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41966019C>T | CA156904798 | GLI3 | c.3054G>A (p.Leu1018=) c.2880G>A (p.Leu960=) n.3031G>A c.2877G>A (p.Leu959=) c.3051G>A (p.Leu1017=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966020A>C | CA367319261 | GLI3 | c.3053T>G (p.Leu1018Arg) c.2879T>G (p.Leu960Arg) n.3030T>G c.2876T>G (p.Leu959Arg) c.3050T>G (p.Leu1017Arg) | |
7 | g.41966020A>G | CA367319259 | GLI3 | c.3053T>C (p.Leu1018Pro) c.2879T>C (p.Leu960Pro) n.3030T>C c.2876T>C (p.Leu959Pro) c.3050T>C (p.Leu1017Pro) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.41966020A>T | CA367319260 | GLI3 | c.3053T>A (p.Leu1018Gln) c.2879T>A (p.Leu960Gln) n.3030T>A c.2876T>A (p.Leu959Gln) c.3050T>A (p.Leu1017Gln) | |
7 | g.41966021G>A | CA454661877 | GLI3 | c.3052C>T (p.Leu1018=) c.2878C>T (p.Leu960=) n.3029C>T c.2875C>T (p.Leu959=) c.3049C>T (p.Leu1017=) | gnomAD v4 |
7 | g.41966021G>C | CA367319264 | GLI3 | c.3052C>G (p.Leu1018Val) c.2878C>G (p.Leu960Val) n.3029C>G c.2875C>G (p.Leu959Val) c.3049C>G (p.Leu1017Val) | |
7 | g.41966021G>T | CA367319266 | GLI3 | c.3052C>A (p.Leu1018Met) c.2878C>A (p.Leu960Met) n.3029C>A c.2875C>A (p.Leu959Met) c.3049C>A (p.Leu1017Met) | COSMIC |
7 | g.41966022G>A | CA454661878 | GLI3 | c.3051C>T (p.Ala1017=) c.2877C>T (p.Ala959=) n.3028C>T c.2874C>T (p.Ala958=) c.3048C>T (p.Ala1016=) | gnomAD v4 COSMIC |
7 | g.41966022G>C | CA454661879 | GLI3 | c.3051C>G (p.Ala1017=) c.2877C>G (p.Ala959=) n.3028C>G c.2874C>G (p.Ala958=) c.3048C>G (p.Ala1016=) | |
7 | g.41966022G>T | CA454661880 | GLI3 | c.3051C>A (p.Ala1017=) c.2877C>A (p.Ala959=) n.3028C>A c.2874C>A (p.Ala958=) c.3048C>A (p.Ala1016=) | |
7 | g.41966023G>A | CA367319268 | GLI3 | c.3050C>T (p.Ala1017Val) c.2876C>T (p.Ala959Val) n.3027C>T c.2873C>T (p.Ala958Val) c.3047C>T (p.Ala1016Val) | dbSNP gnomAD v4 |
7 | g.41966023G>C | CA367319271 | GLI3 | c.3050C>G (p.Ala1017Gly) c.2876C>G (p.Ala959Gly) n.3027C>G c.2873C>G (p.Ala958Gly) c.3047C>G (p.Ala1016Gly) | |
7 | g.41966023G= | CA1702661069 | GLI3 | c.3050C= (p.Ala1017=) c.2876C= (p.Ala959=) n.3027C= c.2873C= (p.Ala958=) c.3047C= (p.Ala1016=) | |
7 | g.41966023G>T | CA367319273 | GLI3 | c.3050C>A (p.Ala1017Asp) c.2876C>A (p.Ala959Asp) n.3027C>A c.2873C>A (p.Ala958Asp) c.3047C>A (p.Ala1016Asp) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966024C>A | CA367319276 | GLI3 | c.3049G>T (p.Ala1017Ser) c.2875G>T (p.Ala959Ser) n.3026G>T c.2872G>T (p.Ala958Ser) c.3046G>T (p.Ala1016Ser) | |
7 | g.41966024C>G | CA367319278 | GLI3 | c.3049G>C (p.Ala1017Pro) c.2875G>C (p.Ala959Pro) n.3026G>C c.2872G>C (p.Ala958Pro) c.3046G>C (p.Ala1016Pro) | |
7 | g.41966024C>T | CA367319281 | GLI3 | c.3049G>A (p.Ala1017Thr) c.2875G>A (p.Ala959Thr) n.3026G>A c.2872G>A (p.Ala958Thr) c.3046G>A (p.Ala1016Thr) | gnomAD v4 |
7 | g.41966025C>A | CA454661882 | GLI3 | c.3048G>T (p.Leu1016=) c.2874G>T (p.Leu958=) n.3025G>T c.2871G>T (p.Leu957=) c.3045G>T (p.Leu1015=) | |
7 | g.41966025C>G | CA454661883 | GLI3 | c.3048G>C (p.Leu1016=) c.2874G>C (p.Leu958=) n.3025G>C c.2871G>C (p.Leu957=) c.3045G>C (p.Leu1015=) | |
7 | g.41966025C>T | CA454661881 | GLI3 | c.3048G>A (p.Leu1016=) c.2874G>A (p.Leu958=) n.3025G>A c.2871G>A (p.Leu957=) c.3045G>A (p.Leu1015=) | |
7 | g.41966026A>C | CA367319284 | GLI3 | c.3047T>G (p.Leu1016Arg) c.2873T>G (p.Leu958Arg) n.3024T>G c.2870T>G (p.Leu957Arg) c.3044T>G (p.Leu1015Arg) | gnomAD v4 |
7 | g.41966026A>G | CA367319287 | GLI3 | c.3047T>C (p.Leu1016Pro) c.2873T>C (p.Leu958Pro) n.3024T>C c.2870T>C (p.Leu957Pro) c.3044T>C (p.Leu1015Pro) | gnomAD v4 |
7 | g.41966026A>T | CA367319289 | GLI3 | c.3047T>A (p.Leu1016Gln) c.2873T>A (p.Leu958Gln) n.3024T>A c.2870T>A (p.Leu957Gln) c.3044T>A (p.Leu1015Gln) | |
7 | g.41966027G>A | CA454661884 | GLI3 | c.3046C>T (p.Leu1016=) c.2872C>T (p.Leu958=) n.3023C>T c.2869C>T (p.Leu957=) c.3043C>T (p.Leu1015=) | gnomAD v4 |
7 | g.41966027G>C | CA4230465 | GLI3 | c.3046C>G (p.Leu1016Val) c.2872C>G (p.Leu958Val) n.3023C>G c.2869C>G (p.Leu957Val) c.3043C>G (p.Leu1015Val) | dbSNP ExAC |
7 | g.41966027G= | CA1702661070 | GLI3 | c.3046C= (p.Leu1016=) c.2872C= (p.Leu958=) n.3023C= c.2869C= (p.Leu957=) c.3043C= (p.Leu1015=) | |
7 | g.41966027G>T | CA367319293 | GLI3 | c.3046C>A (p.Leu1016Met) c.2872C>A (p.Leu958Met) n.3023C>A c.2869C>A (p.Leu957Met) c.3043C>A (p.Leu1015Met) | |
7 | g.41966028G>A | CA454661885 | GLI3 | c.3045C>T (p.Gly1015=) c.2871C>T (p.Gly957=) n.3022C>T c.2868C>T (p.Gly956=) c.3042C>T (p.Gly1014=) | gnomAD v4 |
7 | g.41966028G>C | CA4230466 | GLI3 | c.3045C>G (p.Gly1015=) c.2871C>G (p.Gly957=) n.3022C>G c.2868C>G (p.Gly956=) c.3042C>G (p.Gly1014=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966028G= | CA1702661071 | GLI3 | c.3045C= (p.Gly1015=) c.2871C= (p.Gly957=) n.3022C= c.2868C= (p.Gly956=) c.3042C= (p.Gly1014=) | |
7 | g.41966028G>T | CA454661886 | GLI3 | c.3045C>A (p.Gly1015=) c.2871C>A (p.Gly957=) n.3022C>A c.2868C>A (p.Gly956=) c.3042C>A (p.Gly1014=) | |
7 | g.41966029C>A | CA367319301 | GLI3 | c.3044G>T (p.Gly1015Val) c.2870G>T (p.Gly957Val) n.3021G>T c.2867G>T (p.Gly956Val) c.3041G>T (p.Gly1014Val) | gnomAD v4 |
7 | g.41966029C>G | CA367319296 | GLI3 | c.3044G>C (p.Gly1015Ala) c.2870G>C (p.Gly957Ala) n.3021G>C c.2867G>C (p.Gly956Ala) c.3041G>C (p.Gly1014Ala) | |
7 | g.41966029C>T | CA367319299 | GLI3 | c.3044G>A (p.Gly1015Asp) c.2870G>A (p.Gly957Asp) n.3021G>A c.2867G>A (p.Gly956Asp) c.3041G>A (p.Gly1014Asp) | |
7 | g.41966030C>A | CA367319303 | GLI3 | c.3043G>T (p.Gly1015Cys) c.2869G>T (p.Gly957Cys) n.3020G>T c.2866G>T (p.Gly956Cys) c.3040G>T (p.Gly1014Cys) | |
7 | g.41966030C>G | CA367319304 | GLI3 | c.3043G>C (p.Gly1015Arg) c.2869G>C (p.Gly957Arg) n.3020G>C c.2866G>C (p.Gly956Arg) c.3040G>C (p.Gly1014Arg) | |
7 | g.41966030C>T | CA367319306 | GLI3 | c.3043G>A (p.Gly1015Ser) c.2869G>A (p.Gly957Ser) n.3020G>A c.2866G>A (p.Gly956Ser) c.3040G>A (p.Gly1014Ser) | gnomAD v4 |
7 | g.41966031C>A | CA367319309 | GLI3 | c.3042G>T (p.Glu1014Asp) c.2868G>T (p.Glu956Asp) n.3019G>T c.2865G>T (p.Glu955Asp) c.3039G>T (p.Glu1013Asp) | gnomAD v4 |
7 | g.41966031C= | CA1702661072 | GLI3 | c.3042G= (p.Glu1014=) c.2868G= (p.Glu956=) n.3019G= c.2865G= (p.Glu955=) c.3039G= (p.Glu1013=) | |
7 | g.41966031C>G | CA367319311 | GLI3 | c.3042G>C (p.Glu1014Asp) c.2868G>C (p.Glu956Asp) n.3019G>C c.2865G>C (p.Glu955Asp) c.3039G>C (p.Glu1013Asp) | |
7 | g.41966031C>T | CA454661887 | GLI3 | c.3042G>A (p.Glu1014=) c.2868G>A (p.Glu956=) n.3019G>A c.2865G>A (p.Glu955=) c.3039G>A (p.Glu1013=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966032T>A | CA367319314 | GLI3 | c.3041A>T (p.Glu1014Val) c.2867A>T (p.Glu956Val) n.3018A>T c.2864A>T (p.Glu955Val) c.3038A>T (p.Glu1013Val) | |
7 | g.41966032T>C | CA367319319 | GLI3 | c.3041A>G (p.Glu1014Gly) c.2867A>G (p.Glu956Gly) n.3018A>G c.2864A>G (p.Glu955Gly) c.3038A>G (p.Glu1013Gly) | |
7 | g.41966032T>G | CA367319316 | GLI3 | c.3041A>C (p.Glu1014Ala) c.2867A>C (p.Glu956Ala) n.3018A>C c.2864A>C (p.Glu955Ala) c.3038A>C (p.Glu1013Ala) | |
7 | g.41966033C>A | CA367319322 | GLI3 | c.3040G>T (p.Glu1014Ter) c.2866G>T (p.Glu956Ter) n.3017G>T c.2863G>T (p.Glu955Ter) c.3037G>T (p.Glu1013Ter) | |
7 | g.41966033C= | CA1702661073 | GLI3 | c.3040G= (p.Glu1014=) c.2866G= (p.Glu956=) n.3017G= c.2863G= (p.Glu955=) c.3037G= (p.Glu1013=) | |
7 | g.41966033C>G | CA4230467 | GLI3 | c.3040G>C (p.Glu1014Gln) c.2866G>C (p.Glu956Gln) n.3017G>C c.2863G>C (p.Glu955Gln) c.3037G>C (p.Glu1013Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41966033C>T | CA367319326 | GLI3 | c.3040G>A (p.Glu1014Lys) c.2866G>A (p.Glu956Lys) n.3017G>A c.2863G>A (p.Glu955Lys) c.3037G>A (p.Glu1013Lys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966034G>A | CA4230468 | GLI3 | c.3039C>T (p.Ser1013=) c.2865C>T (p.Ser955=) n.3016C>T c.2862C>T (p.Ser954=) c.3036C>T (p.Ser1012=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41966034G>C | CA454661888 | GLI3 | c.3039C>G (p.Ser1013=) c.2865C>G (p.Ser955=) n.3016C>G c.2862C>G (p.Ser954=) c.3036C>G (p.Ser1012=) | |
7 | g.41966034G= | CA1702661074 | GLI3 | c.3039C= (p.Ser1013=) c.2865C= (p.Ser955=) n.3016C= c.2862C= (p.Ser954=) c.3036C= (p.Ser1012=) | |
7 | g.41966034G>T | CA454661889 | GLI3 | c.3039C>A (p.Ser1013=) c.2865C>A (p.Ser955=) n.3016C>A c.2862C>A (p.Ser954=) c.3036C>A (p.Ser1012=) | |
7 | g.41966035G>A | CA367319336 | GLI3 | c.3038C>T (p.Ser1013Phe) c.2864C>T (p.Ser955Phe) n.3015C>T c.2861C>T (p.Ser954Phe) c.3035C>T (p.Ser1012Phe) | |
7 | g.41966035G>C | CA367319332 | GLI3 | c.3038C>G (p.Ser1013Cys) c.2864C>G (p.Ser955Cys) n.3015C>G c.2861C>G (p.Ser954Cys) c.3035C>G (p.Ser1012Cys) | |
7 | g.41966035G>T | CA367319334 | GLI3 | c.3038C>A (p.Ser1013Tyr) c.2864C>A (p.Ser955Tyr) n.3015C>A c.2861C>A (p.Ser954Tyr) c.3035C>A (p.Ser1012Tyr) | |
7 | g.41966036A= | CA1702661075 | GLI3 | c.3037T= (p.Ser1013=) c.2863T= (p.Ser955=) n.3014T= c.2860T= (p.Ser954=) c.3034T= (p.Ser1012=) | |
7 | g.41966036A>C | CA367319339 | GLI3 | c.3037T>G (p.Ser1013Ala) c.2863T>G (p.Ser955Ala) n.3014T>G c.2860T>G (p.Ser954Ala) c.3034T>G (p.Ser1012Ala) | |
7 | g.41966036A>G | CA156904809 | GLI3 | c.3037T>C (p.Ser1013Pro) c.2863T>C (p.Ser955Pro) n.3014T>C c.2860T>C (p.Ser954Pro) c.3034T>C (p.Ser1012Pro) | dbSNP |
7 | g.41966036A>T | CA367319342 | GLI3 | c.3037T>A (p.Ser1013Thr) c.2863T>A (p.Ser955Thr) n.3014T>A c.2860T>A (p.Ser954Thr) c.3034T>A (p.Ser1012Thr) | |
7 | g.41966037G>A | CA454661890 | GLI3 | c.3036C>T (p.Gly1012=) c.2862C>T (p.Gly954=) n.3013C>T c.2859C>T (p.Gly953=) c.3033C>T (p.Gly1011=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966037G>C | CA454661892 | GLI3 | c.3036C>G (p.Gly1012=) c.2862C>G (p.Gly954=) n.3013C>G c.2859C>G (p.Gly953=) c.3033C>G (p.Gly1011=) | |
7 | g.41966037G= | CA1702661076 | GLI3 | c.3036C= (p.Gly1012=) c.2862C= (p.Gly954=) n.3013C= c.2859C= (p.Gly953=) c.3033C= (p.Gly1011=) | |
7 | g.41966037G>T | CA454661891 | GLI3 | c.3036C>A (p.Gly1012=) c.2862C>A (p.Gly954=) n.3013C>A c.2859C>A (p.Gly953=) c.3033C>A (p.Gly1011=) | gnomAD v4 |
7 | g.41966038C>A | CA4230469 | GLI3 | c.3035G>T (p.Gly1012Val) c.2861G>T (p.Gly954Val) n.3012G>T c.2858G>T (p.Gly953Val) c.3032G>T (p.Gly1011Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966038C= | CA1702661077 | GLI3 | c.3035G= (p.Gly1012=) c.2861G= (p.Gly954=) n.3012G= c.2858G= (p.Gly953=) c.3032G= (p.Gly1011=) | |
7 | g.41966038C>G | CA367319347 | GLI3 | c.3035G>C (p.Gly1012Ala) c.2861G>C (p.Gly954Ala) n.3012G>C c.2858G>C (p.Gly953Ala) c.3032G>C (p.Gly1011Ala) | |
7 | g.41966038C>T | CA367319349 | GLI3 | c.3035G>A (p.Gly1012Asp) c.2861G>A (p.Gly954Asp) n.3012G>A c.2858G>A (p.Gly953Asp) c.3032G>A (p.Gly1011Asp) | gnomAD v4 |
7 | g.41966039C>A | CA367319352 | GLI3 | c.3034G>T (p.Gly1012Cys) c.2860G>T (p.Gly954Cys) n.3011G>T c.2857G>T (p.Gly953Cys) c.3031G>T (p.Gly1011Cys) | |
7 | g.41966039C= | CA1702661078 | GLI3 | c.3034G= (p.Gly1012=) c.2860G= (p.Gly954=) n.3011G= c.2857G= (p.Gly953=) c.3031G= (p.Gly1011=) | |
7 | g.41966039C>G | CA367319355 | GLI3 | c.3034G>C (p.Gly1012Arg) c.2860G>C (p.Gly954Arg) n.3011G>C c.2857G>C (p.Gly953Arg) c.3031G>C (p.Gly1011Arg) | |
7 | g.41966039C>T | CA367319357 | GLI3 | c.3034G>A (p.Gly1012Ser) c.2860G>A (p.Gly954Ser) n.3011G>A c.2857G>A (p.Gly953Ser) c.3031G>A (p.Gly1011Ser) | dbSNP |
7 | g.41966040T>A | CA454661893 | GLI3 | c.3033A>T (p.Thr1011=) c.2859A>T (p.Thr953=) n.3010A>T c.2856A>T (p.Thr952=) c.3030A>T (p.Thr1010=) | |
7 | g.41966040T>C | CA454661894 | GLI3 | c.3033A>G (p.Thr1011=) c.2859A>G (p.Thr953=) n.3010A>G c.2856A>G (p.Thr952=) c.3030A>G (p.Thr1010=) | dbSNP gnomAD v4 |
7 | g.41966040T>G | CA454661895 | GLI3 | c.3033A>C (p.Thr1011=) c.2859A>C (p.Thr953=) n.3010A>C c.2856A>C (p.Thr952=) c.3030A>C (p.Thr1010=) | |
7 | g.41966040T= | CA1702661079 | GLI3 | c.3033A= (p.Thr1011=) c.2859A= (p.Thr953=) n.3010A= c.2856A= (p.Thr952=) c.3030A= (p.Thr1010=) | |
7 | g.41966041G>A | CA4230470 | GLI3 | c.3032C>T (p.Thr1011Ile) c.2858C>T (p.Thr953Ile) n.3009C>T c.2855C>T (p.Thr952Ile) c.3029C>T (p.Thr1010Ile) | dbSNP ExAC gnomAD v2 |
7 | g.41966041G>C | CA367319361 | GLI3 | c.3032C>G (p.Thr1011Arg) c.2858C>G (p.Thr953Arg) n.3009C>G c.2855C>G (p.Thr952Arg) c.3029C>G (p.Thr1010Arg) | |
7 | g.41966041G= | CA1702661080 | GLI3 | c.3032C= (p.Thr1011=) c.2858C= (p.Thr953=) n.3009C= c.2855C= (p.Thr952=) c.3029C= (p.Thr1010=) | |
7 | g.41966041G>T | CA367319363 | GLI3 | c.3032C>A (p.Thr1011Lys) c.2858C>A (p.Thr953Lys) n.3009C>A c.2855C>A (p.Thr952Lys) c.3029C>A (p.Thr1010Lys) | gnomAD v4 |
7 | g.41966042T>A | CA367319366 | GLI3 | c.3031A>T (p.Thr1011Ser) c.2857A>T (p.Thr953Ser) n.3008A>T c.2854A>T (p.Thr952Ser) c.3028A>T (p.Thr1010Ser) | |
7 | g.41966042T>C | CA367319370 | GLI3 | c.3031A>G (p.Thr1011Ala) c.2857A>G (p.Thr953Ala) n.3008A>G c.2854A>G (p.Thr952Ala) c.3028A>G (p.Thr1010Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966042T>G | CA367319367 | GLI3 | c.3031A>C (p.Thr1011Pro) c.2857A>C (p.Thr953Pro) n.3008A>C c.2854A>C (p.Thr952Pro) c.3028A>C (p.Thr1010Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966042T= | CA1702661081 | GLI3 | c.3031A= (p.Thr1011=) c.2857A= (p.Thr953=) n.3008A= c.2854A= (p.Thr952=) c.3028A= (p.Thr1010=) | |
7 | g.41966043C>A | CA454661896 | GLI3 | c.3030G>T (p.Arg1010=) c.2856G>T (p.Arg952=) n.3007G>T c.2853G>T (p.Arg951=) c.3027G>T (p.Arg1009=) | gnomAD v4 |
7 | g.41966043C= | CA1702661082 | GLI3 | c.3030G= (p.Arg1010=) c.2856G= (p.Arg952=) n.3007G= c.2853G= (p.Arg951=) c.3027G= (p.Arg1009=) | |
7 | g.41966043C>G | CA454661897 | GLI3 | c.3030G>C (p.Arg1010=) c.2856G>C (p.Arg952=) n.3007G>C c.2853G>C (p.Arg951=) c.3027G>C (p.Arg1009=) | |
7 | g.41966043C>T | CA454661898 | GLI3 | c.3030G>A (p.Arg1010=) c.2856G>A (p.Arg952=) n.3007G>A c.2853G>A (p.Arg951=) c.3027G>A (p.Arg1009=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966044C>A | CA367319373 | GLI3 | c.3029G>T (p.Arg1010Leu) c.2855G>T (p.Arg952Leu) n.3006G>T c.2852G>T (p.Arg951Leu) c.3026G>T (p.Arg1009Leu) | dbSNP gnomAD v4 |
7 | g.41966044C= | CA1702661083 | GLI3 | c.3029G= (p.Arg1010=) c.2855G= (p.Arg952=) n.3006G= c.2852G= (p.Arg951=) c.3026G= (p.Arg1009=) | |
7 | g.41966044C>G | CA367319374 | GLI3 | c.3029G>C (p.Arg1010Pro) c.2855G>C (p.Arg952Pro) n.3006G>C c.2852G>C (p.Arg951Pro) c.3026G>C (p.Arg1009Pro) | |
7 | g.41966044C>T | CA367319377 | GLI3 | c.3029G>A (p.Arg1010Gln) c.2855G>A (p.Arg952Gln) n.3006G>A c.2852G>A (p.Arg951Gln) c.3026G>A (p.Arg1009Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.41966045G>A | CA367319381 | GLI3 | c.3028C>T (p.Arg1010Trp) c.2854C>T (p.Arg952Trp) n.3005C>T c.2851C>T (p.Arg951Trp) c.3025C>T (p.Arg1009Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41966045G>C | CA367319383 | GLI3 | c.3028C>G (p.Arg1010Gly) c.2854C>G (p.Arg952Gly) n.3005C>G c.2851C>G (p.Arg951Gly) c.3025C>G (p.Arg1009Gly) | |
7 | g.41966045G= | CA1702661084 | GLI3 | c.3028C= (p.Arg1010=) c.2854C= (p.Arg952=) n.3005C= c.2851C= (p.Arg951=) c.3025C= (p.Arg1009=) | |
7 | g.41966045G>T | CA454661899 | GLI3 | c.3028C>A (p.Arg1010=) c.2854C>A (p.Arg952=) n.3005C>A c.2851C>A (p.Arg951=) c.3025C>A (p.Arg1009=) | dbSNP gnomAD v4 |
7 | g.41966046C>A | CA454661900 | GLI3 | c.3027G>T (p.Val1009=) c.2853G>T (p.Val951=) n.3004G>T c.2850G>T (p.Val950=) c.3024G>T (p.Val1008=) | |
7 | g.41966046C= | CA1702661085 | GLI3 | c.3027G= (p.Val1009=) c.2853G= (p.Val951=) n.3004G= c.2850G= (p.Val950=) c.3024G= (p.Val1008=) | |
7 | g.41966046C>G | CA454661901 | GLI3 | c.3027G>C (p.Val1009=) c.2853G>C (p.Val951=) n.3004G>C c.2850G>C (p.Val950=) c.3024G>C (p.Val1008=) | |
7 | g.41966046C>T | CA454661902 | GLI3 | c.3027G>A (p.Val1009=) c.2853G>A (p.Val951=) n.3004G>A c.2850G>A (p.Val950=) c.3024G>A (p.Val1008=) | dbSNP gnomAD v4 |
7 | g.41966047A>C | CA367319387 | GLI3 | c.3026T>G (p.Val1009Gly) c.2852T>G (p.Val951Gly) n.3003T>G c.2849T>G (p.Val950Gly) c.3023T>G (p.Val1008Gly) | |
7 | g.41966047A>G | CA367319388 | GLI3 | c.3026T>C (p.Val1009Ala) c.2852T>C (p.Val951Ala) n.3003T>C c.2849T>C (p.Val950Ala) c.3023T>C (p.Val1008Ala) | |
7 | g.41966047A>T | CA367319390 | GLI3 | c.3026T>A (p.Val1009Glu) c.2852T>A (p.Val951Glu) n.3003T>A c.2849T>A (p.Val950Glu) c.3023T>A (p.Val1008Glu) | gnomAD v4 |
7 | g.41966048C>A | CA367319393 | GLI3 | c.3025G>T (p.Val1009Leu) c.2851G>T (p.Val951Leu) n.3002G>T c.2848G>T (p.Val950Leu) c.3022G>T (p.Val1008Leu) | |
7 | g.41966048C>G | CA367319395 | GLI3 | c.3025G>C (p.Val1009Leu) c.2851G>C (p.Val951Leu) n.3002G>C c.2848G>C (p.Val950Leu) c.3022G>C (p.Val1008Leu) | |
7 | g.41966048C>T | CA367319397 | GLI3 | c.3025G>A (p.Val1009Met) c.2851G>A (p.Val951Met) n.3002G>A c.2848G>A (p.Val950Met) c.3022G>A (p.Val1008Met) | |
7 | g.41966049C>A | CA454661903 | GLI3 | c.3024G>T (p.Pro1008=) c.2850G>T (p.Pro950=) n.3001G>T c.2847G>T (p.Pro949=) c.3021G>T (p.Pro1007=) | gnomAD v4 |
7 | g.41966049C= | CA1702661086 | GLI3 | c.3024G= (p.Pro1008=) c.2850G= (p.Pro950=) n.3001G= c.2847G= (p.Pro949=) c.3021G= (p.Pro1007=) | |
7 | g.41966049C>G | CA4230471 | GLI3 | c.3024G>C (p.Pro1008=) c.2850G>C (p.Pro950=) n.3001G>C c.2847G>C (p.Pro949=) c.3021G>C (p.Pro1007=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966049C>T | CA4230472 | GLI3 | c.3024G>A (p.Pro1008=) c.2850G>A (p.Pro950=) n.3001G>A c.2847G>A (p.Pro949=) c.3021G>A (p.Pro1007=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966049_41966057del | CA2682510067 | GLI3 | c.3016_3024del (p.Ser1006_Pro1008del) c.2842_2850del (p.Ser948_Pro950del) n.2993_3001del c.2839_2847del (p.Ser947_Pro949del) c.3013_3021del (p.Ser1005_Pro1007del) | gnomAD v4 |
7 | g.41966050G>A | CA367319402 | GLI3 | c.3023C>T (p.Pro1008Leu) c.2849C>T (p.Pro950Leu) n.3000C>T c.2846C>T (p.Pro949Leu) c.3020C>T (p.Pro1007Leu) | gnomAD v4 |
7 | g.41966050G>C | CA367319407 | GLI3 | c.3023C>G (p.Pro1008Arg) c.2849C>G (p.Pro950Arg) n.3000C>G c.2846C>G (p.Pro949Arg) c.3020C>G (p.Pro1007Arg) | |
7 | g.41966050G>T | CA367319405 | GLI3 | c.3023C>A (p.Pro1008Gln) c.2849C>A (p.Pro950Gln) n.3000C>A c.2846C>A (p.Pro949Gln) c.3020C>A (p.Pro1007Gln) | gnomAD v4 |
7 | g.41966051G>A | CA367319410 | GLI3 | c.3022C>T (p.Pro1008Ser) c.2848C>T (p.Pro950Ser) n.2999C>T c.2845C>T (p.Pro949Ser) c.3019C>T (p.Pro1007Ser) | |
7 | g.41966051G>C | CA367319412 | GLI3 | c.3022C>G (p.Pro1008Ala) c.2848C>G (p.Pro950Ala) n.2999C>G c.2845C>G (p.Pro949Ala) c.3019C>G (p.Pro1007Ala) | |
7 | g.41966051G>T | CA367319414 | GLI3 | c.3022C>A (p.Pro1008Thr) c.2848C>A (p.Pro950Thr) n.2999C>A c.2845C>A (p.Pro949Thr) c.3019C>A (p.Pro1007Thr) | dbSNP gnomAD v4 |
7 | g.41966052G>A | CA454661904 | GLI3 | c.3021C>T (p.Asp1007=) c.2847C>T (p.Asp949=) n.2998C>T c.2844C>T (p.Asp948=) c.3018C>T (p.Asp1006=) | |
7 | g.41966052G>C | CA367319417 | GLI3 | c.3021C>G (p.Asp1007Glu) c.2847C>G (p.Asp949Glu) n.2998C>G c.2844C>G (p.Asp948Glu) c.3018C>G (p.Asp1006Glu) | |
7 | g.41966052G>T | CA367319419 | GLI3 | c.3021C>A (p.Asp1007Glu) c.2847C>A (p.Asp949Glu) n.2998C>A c.2844C>A (p.Asp948Glu) c.3018C>A (p.Asp1006Glu) | |
7 | g.41966053T>A | CA367319422 | GLI3 | c.3020A>T (p.Asp1007Val) c.2846A>T (p.Asp949Val) n.2997A>T c.2843A>T (p.Asp948Val) c.3017A>T (p.Asp1006Val) | |
7 | g.41966053T>C | CA367319424 | GLI3 | c.3020A>G (p.Asp1007Gly) c.2846A>G (p.Asp949Gly) n.2997A>G c.2843A>G (p.Asp948Gly) c.3017A>G (p.Asp1006Gly) | |
7 | g.41966053T>G | CA367319426 | GLI3 | c.3020A>C (p.Asp1007Ala) c.2846A>C (p.Asp949Ala) n.2997A>C c.2843A>C (p.Asp948Ala) c.3017A>C (p.Asp1006Ala) | |
7 | g.41966054C>A | CA367319428 | GLI3 | c.3019G>T (p.Asp1007Tyr) c.2845G>T (p.Asp949Tyr) n.2996G>T c.2842G>T (p.Asp948Tyr) c.3016G>T (p.Asp1006Tyr) | |
7 | g.41966054C>G | CA367319429 | GLI3 | c.3019G>C (p.Asp1007His) c.2845G>C (p.Asp949His) n.2996G>C c.2842G>C (p.Asp948His) c.3016G>C (p.Asp1006His) | |
7 | g.41966054C>T | CA367319431 | GLI3 | c.3019G>A (p.Asp1007Asn) c.2845G>A (p.Asp949Asn) n.2996G>A c.2842G>A (p.Asp948Asn) c.3016G>A (p.Asp1006Asn) | gnomAD v4 COSMIC |
7 | g.41966055G>A | CA454661905 | GLI3 | c.3018C>T (p.Ser1006=) c.2844C>T (p.Ser948=) n.2995C>T c.2841C>T (p.Ser947=) c.3015C>T (p.Ser1005=) | dbSNP gnomAD v4 COSMIC |
7 | g.41966055G>C | CA367319434 | GLI3 | c.3018C>G (p.Ser1006Arg) c.2844C>G (p.Ser948Arg) n.2995C>G c.2841C>G (p.Ser947Arg) c.3015C>G (p.Ser1005Arg) | |
7 | g.41966055G= | CA1702661087 | GLI3 | c.3018C= (p.Ser1006=) c.2844C= (p.Ser948=) n.2995C= c.2841C= (p.Ser947=) c.3015C= (p.Ser1005=) | |
7 | g.41966055G>T | CA367319433 | GLI3 | c.3018C>A (p.Ser1006Arg) c.2844C>A (p.Ser948Arg) n.2995C>A c.2841C>A (p.Ser947Arg) c.3015C>A (p.Ser1005Arg) | gnomAD v4 |
7 | g.41966056C>A | CA367319437 | GLI3 | c.3017G>T (p.Ser1006Ile) c.2843G>T (p.Ser948Ile) n.2994G>T c.2840G>T (p.Ser947Ile) c.3014G>T (p.Ser1005Ile) | |
7 | g.41966056C>G | CA367319440 | GLI3 | c.3017G>C (p.Ser1006Thr) c.2843G>C (p.Ser948Thr) n.2994G>C c.2840G>C (p.Ser947Thr) c.3014G>C (p.Ser1005Thr) | |
7 | g.41966056C>T | CA367319439 | GLI3 | c.3017G>A (p.Ser1006Asn) c.2843G>A (p.Ser948Asn) n.2994G>A c.2840G>A (p.Ser947Asn) c.3014G>A (p.Ser1005Asn) | |
7 | g.41966057T>A | CA367319443 | GLI3 | c.3016A>T (p.Ser1006Cys) c.2842A>T (p.Ser948Cys) n.2993A>T c.2839A>T (p.Ser947Cys) c.3013A>T (p.Ser1005Cys) | |
7 | g.41966057T>C | CA367319447 | GLI3 | c.3016A>G (p.Ser1006Gly) c.2842A>G (p.Ser948Gly) n.2993A>G c.2839A>G (p.Ser947Gly) c.3013A>G (p.Ser1005Gly) | |
7 | g.41966057T>G | CA367319445 | GLI3 | c.3016A>C (p.Ser1006Arg) c.2842A>C (p.Ser948Arg) n.2993A>C c.2839A>C (p.Ser947Arg) c.3013A>C (p.Ser1005Arg) | |
7 | g.41966057dup | CA2695207648 | GLI3 | c.3016dup (p.Ser1006LysfsTer?) c.2842dup (p.Ser948LysfsTer?) n.2993dup c.2839dup (p.Ser947LysfsTer?) c.3013dup (p.Ser1005LysfsTer?) | |
7 | g.41966058G>A | CA4230473 | GLI3 | c.3015C>T (p.Ala1005=) c.2841C>T (p.Ala947=) n.2992C>T c.2838C>T (p.Ala946=) c.3012C>T (p.Ala1004=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41966058G>C | CA454661906 | GLI3 | c.3015C>G (p.Ala1005=) c.2841C>G (p.Ala947=) n.2992C>G c.2838C>G (p.Ala946=) c.3012C>G (p.Ala1004=) | gnomAD v4 |
7 | g.41966058G= | CA1702661088 | GLI3 | c.3015C= (p.Ala1005=) c.2841C= (p.Ala947=) n.2992C= c.2838C= (p.Ala946=) c.3012C= (p.Ala1004=) | |
7 | g.41966058G>T | CA454661907 | GLI3 | c.3015C>A (p.Ala1005=) c.2841C>A (p.Ala947=) n.2992C>A c.2838C>A (p.Ala946=) c.3012C>A (p.Ala1004=) | gnomAD v4 |
7 | g.41966059G>A | CA367319451 | GLI3 | c.3014C>T (p.Ala1005Val) c.2840C>T (p.Ala947Val) n.2991C>T c.2837C>T (p.Ala946Val) c.3011C>T (p.Ala1004Val) | gnomAD v4 |
7 | g.41966059G>C | CA367319453 | GLI3 | c.3014C>G (p.Ala1005Gly) c.2840C>G (p.Ala947Gly) n.2991C>G c.2837C>G (p.Ala946Gly) c.3011C>G (p.Ala1004Gly) | gnomAD v4 |
7 | g.41966059G>T | CA367319455 | GLI3 | c.3014C>A (p.Ala1005Asp) c.2840C>A (p.Ala947Asp) n.2991C>A c.2837C>A (p.Ala946Asp) c.3011C>A (p.Ala1004Asp) | gnomAD v4 COSMIC |
7 | g.41966060C>A | CA367319457 | GLI3 | c.3013G>T (p.Ala1005Ser) c.2839G>T (p.Ala947Ser) n.2990G>T c.2836G>T (p.Ala946Ser) c.3010G>T (p.Ala1004Ser) | dbSNP gnomAD v4 |
7 | g.41966060C= | CA1702661089 | GLI3 | c.3013G= (p.Ala1005=) c.2839G= (p.Ala947=) n.2990G= c.2836G= (p.Ala946=) c.3010G= (p.Ala1004=) | |
7 | g.41966060C>G | CA367319459 | GLI3 | c.3013G>C (p.Ala1005Pro) c.2839G>C (p.Ala947Pro) n.2990G>C c.2836G>C (p.Ala946Pro) c.3010G>C (p.Ala1004Pro) | |
7 | g.41966060C>T | CA367319461 | GLI3 | c.3013G>A (p.Ala1005Thr) c.2839G>A (p.Ala947Thr) n.2990G>A c.2836G>A (p.Ala946Thr) c.3010G>A (p.Ala1004Thr) | dbSNP gnomAD v2 |
7 | g.41966061C>A | CA367319465 | GLI3 | c.3012G>T (p.Arg1004Ser) c.2838G>T (p.Arg946Ser) n.2989G>T c.2835G>T (p.Arg945Ser) c.3009G>T (p.Arg1003Ser) | |
7 | g.41966061C>G | CA367319467 | GLI3 | c.3012G>C (p.Arg1004Ser) c.2838G>C (p.Arg946Ser) n.2989G>C c.2835G>C (p.Arg945Ser) c.3009G>C (p.Arg1003Ser) | |
7 | g.41966061C>T | CA454661908 | GLI3 | c.3012G>A (p.Arg1004=) c.2838G>A (p.Arg946=) n.2989G>A c.2835G>A (p.Arg945=) c.3009G>A (p.Arg1003=) | |
7 | g.41966062C>A | CA367319470 | GLI3 | c.3011G>T (p.Arg1004Met) c.2837G>T (p.Arg946Met) n.2988G>T c.2834G>T (p.Arg945Met) c.3008G>T (p.Arg1003Met) | gnomAD v4 |
7 | g.41966062C= | CA1702661090 | GLI3 | c.3011G= (p.Arg1004=) c.2837G= (p.Arg946=) n.2988G= c.2834G= (p.Arg945=) c.3008G= (p.Arg1003=) | |
7 | g.41966062C>G | CA4230474 | GLI3 | c.3011G>C (p.Arg1004Thr) c.2837G>C (p.Arg946Thr) n.2988G>C c.2834G>C (p.Arg945Thr) c.3008G>C (p.Arg1003Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.41966062C>T | CA367319473 | GLI3 | c.3011G>A (p.Arg1004Lys) c.2837G>A (p.Arg946Lys) n.2988G>A c.2834G>A (p.Arg945Lys) c.3008G>A (p.Arg1003Lys) | |
7 | g.41966063T>A | CA367319476 | GLI3 | c.3010A>T (p.Arg1004Trp) c.2836A>T (p.Arg946Trp) n.2987A>T c.2833A>T (p.Arg945Trp) c.3007A>T (p.Arg1003Trp) | |
7 | g.41966063T>C | CA367319478 | GLI3 | c.3010A>G (p.Arg1004Gly) c.2836A>G (p.Arg946Gly) n.2987A>G c.2833A>G (p.Arg945Gly) c.3007A>G (p.Arg1003Gly) | |
7 | g.41966063T>G | CA454661909 | GLI3 | c.3010A>C (p.Arg1004=) c.2836A>C (p.Arg946=) n.2987A>C c.2833A>C (p.Arg945=) c.3007A>C (p.Arg1003=) | gnomAD v4 |
7 | g.41966064C>A | CA367319481 | GLI3 | c.3009G>T (p.Arg1003Ser) c.2835G>T (p.Arg945Ser) n.2986G>T c.2832G>T (p.Arg944Ser) c.3006G>T (p.Arg1002Ser) | |
7 | g.41966064C= | CA1702661091 | GLI3 | c.3009G= (p.Arg1003=) c.2835G= (p.Arg945=) n.2986G= c.2832G= (p.Arg944=) c.3006G= (p.Arg1002=) | |
7 | g.41966064C>G | CA367319483 | GLI3 | c.3009G>C (p.Arg1003Ser) c.2835G>C (p.Arg945Ser) n.2986G>C c.2832G>C (p.Arg944Ser) c.3006G>C (p.Arg1002Ser) | |
7 | g.41966064C>T | CA454661910 | GLI3 | c.3009G>A (p.Arg1003=) c.2835G>A (p.Arg945=) n.2986G>A c.2832G>A (p.Arg944=) c.3006G>A (p.Arg1002=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966065C>A | CA367319486 | GLI3 | c.3008G>T (p.Arg1003Met) c.2834G>T (p.Arg945Met) n.2985G>T c.2831G>T (p.Arg944Met) c.3005G>T (p.Arg1002Met) | gnomAD v4 |
7 | g.41966065C>G | CA367319488 | GLI3 | c.3008G>C (p.Arg1003Thr) c.2834G>C (p.Arg945Thr) n.2985G>C c.2831G>C (p.Arg944Thr) c.3005G>C (p.Arg1002Thr) | gnomAD v4 |
7 | g.41966065C>T | CA367319490 | GLI3 | c.3008G>A (p.Arg1003Lys) c.2834G>A (p.Arg945Lys) n.2985G>A c.2831G>A (p.Arg944Lys) c.3005G>A (p.Arg1002Lys) | gnomAD v4 |
7 | g.41966066T>A | CA367319492 | GLI3 | c.3007A>T (p.Arg1003Trp) c.2833A>T (p.Arg945Trp) n.2984A>T c.2830A>T (p.Arg944Trp) c.3004A>T (p.Arg1002Trp) | |
7 | g.41966066T>C | CA367319494 | GLI3 | c.3007A>G (p.Arg1003Gly) c.2833A>G (p.Arg945Gly) n.2984A>G c.2830A>G (p.Arg944Gly) c.3004A>G (p.Arg1002Gly) | |
7 | g.41966066T>G | CA454661967 | GLI3 | c.3007A>C (p.Arg1003=) c.2833A>C (p.Arg945=) n.2984A>C c.2830A>C (p.Arg944=) c.3004A>C (p.Arg1002=) | |
7 | g.41966066_41966067insA | CA2695207649 | GLI3 | c.3006_3007insT (p.Arg1003Ter) c.2832_2833insT (p.Arg945Ter) n.2983_2984insT c.2829_2830insT (p.Arg944Ter) c.3003_3004insT (p.Arg1002Ter) | |
7 | g.41966067C>A | CA454661969 | GLI3 | c.3006G>T (p.Val1002=) c.2832G>T (p.Val944=) n.2983G>T c.2829G>T (p.Val943=) c.3003G>T (p.Val1001=) | dbSNP gnomAD v4 |
7 | g.41966067C>G | CA454661971 | GLI3 | c.3006G>C (p.Val1002=) c.2832G>C (p.Val944=) n.2983G>C c.2829G>C (p.Val943=) c.3003G>C (p.Val1001=) | |
7 | g.41966067C>T | CA454661968 | GLI3 | c.3006G>A (p.Val1002=) c.2832G>A (p.Val944=) n.2983G>A c.2829G>A (p.Val943=) c.3003G>A (p.Val1001=) | gnomAD v4 |
7 | g.41966068A>C | CA367319497 | GLI3 | c.3005T>G (p.Val1002Gly) c.2831T>G (p.Val944Gly) n.2982T>G c.2828T>G (p.Val943Gly) c.3002T>G (p.Val1001Gly) | gnomAD v4 |
7 | g.41966068A>G | CA367319499 | GLI3 | c.3005T>C (p.Val1002Ala) c.2831T>C (p.Val944Ala) n.2982T>C c.2828T>C (p.Val943Ala) c.3002T>C (p.Val1001Ala) | |
7 | g.41966068A>T | CA367319501 | GLI3 | c.3005T>A (p.Val1002Glu) c.2831T>A (p.Val944Glu) n.2982T>A c.2828T>A (p.Val943Glu) c.3002T>A (p.Val1001Glu) | |
7 | g.41966068_41966069delinsAC | CA1702661092 | GLI3 | c.3004_3005delinsGT (p.Val1002=) c.2830_2831delinsGT (p.Val944=) n.2981_2982delinsGT c.2827_2828delinsGT (p.Val943=) c.3001_3002delinsGT (p.Val1001=) | |
7 | g.41966069del | CA342939 | GLI3 | c.3004del (p.Val1002Ter) c.2830del (p.Val944Ter) n.2981del c.2827del (p.Val943Ter) c.3001del (p.Val1001Ter) | dbSNP |
7 | g.41966069C>A | CA367319507 | GLI3 | c.3004G>T (p.Val1002Leu) c.2830G>T (p.Val944Leu) n.2981G>T c.2827G>T (p.Val943Leu) c.3001G>T (p.Val1001Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966069C= | CA1702661093 | GLI3 | c.3004G= (p.Val1002=) c.2830G= (p.Val944=) n.2981G= c.2827G= (p.Val943=) c.3001G= (p.Val1001=) | |
7 | g.41966069C>G | CA367319509 | GLI3 | c.3004G>C (p.Val1002Leu) c.2830G>C (p.Val944Leu) n.2981G>C c.2827G>C (p.Val943Leu) c.3001G>C (p.Val1001Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966069C>T | CA367319505 | GLI3 | c.3004G>A (p.Val1002Met) c.2830G>A (p.Val944Met) n.2981G>A c.2827G>A (p.Val943Met) c.3001G>A (p.Val1001Met) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966070G>A | CA4230475 | GLI3 | c.3003C>T (p.Gly1001=) c.2829C>T (p.Gly943=) n.2980C>T c.2826C>T (p.Gly942=) c.3000C>T (p.Gly1000=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966070G>C | CA156904846 | GLI3 | c.3003C>G (p.Gly1001=) c.2829C>G (p.Gly943=) n.2980C>G c.2826C>G (p.Gly942=) c.3000C>G (p.Gly1000=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966070G= | CA1702661094 | GLI3 | c.3003C= (p.Gly1001=) c.2829C= (p.Gly943=) n.2980C= c.2826C= (p.Gly942=) c.3000C= (p.Gly1000=) | |
7 | g.41966070G>T | CA454661975 | GLI3 | c.3003C>A (p.Gly1001=) c.2829C>A (p.Gly943=) n.2980C>A c.2826C>A (p.Gly942=) c.3000C>A (p.Gly1000=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966071C>A | CA367319515 | GLI3 | c.3002G>T (p.Gly1001Val) c.2828G>T (p.Gly943Val) n.2979G>T c.2825G>T (p.Gly942Val) c.2999G>T (p.Gly1000Val) | dbSNP gnomAD v4 |
7 | g.41966071C= | CA1702661095 | GLI3 | c.3002G= (p.Gly1001=) c.2828G= (p.Gly943=) n.2979G= c.2825G= (p.Gly942=) c.2999G= (p.Gly1000=) | |
7 | g.41966071C>G | CA367319516 | GLI3 | c.3002G>C (p.Gly1001Ala) c.2828G>C (p.Gly943Ala) n.2979G>C c.2825G>C (p.Gly942Ala) c.2999G>C (p.Gly1000Ala) | |
7 | g.41966071C>T | CA367319518 | GLI3 | c.3002G>A (p.Gly1001Asp) c.2828G>A (p.Gly943Asp) n.2979G>A c.2825G>A (p.Gly942Asp) c.2999G>A (p.Gly1000Asp) | gnomAD v4 |
7 | g.41966072del | CA2695207651 | GLI3 | c.3002del (p.Gly1001AlafsTer2) c.2828del (p.Gly943AlafsTer2) n.2979del c.2825del (p.Gly942AlafsTer2) c.2999del (p.Gly1000AlafsTer2) | |
7 | g.41966072C>A | CA367319520 | GLI3 | c.3001G>T (p.Gly1001Cys) c.2827G>T (p.Gly943Cys) n.2978G>T c.2824G>T (p.Gly942Cys) c.2998G>T (p.Gly1000Cys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966072C= | CA1702661096 | GLI3 | c.3001G= (p.Gly1001=) c.2827G= (p.Gly943=) n.2978G= c.2824G= (p.Gly942=) c.2998G= (p.Gly1000=) | |
7 | g.41966072C>G | CA367319523 | GLI3 | c.3001G>C (p.Gly1001Arg) c.2827G>C (p.Gly943Arg) n.2978G>C c.2824G>C (p.Gly942Arg) c.2998G>C (p.Gly1000Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.41966072C>T | CA4230476 | GLI3 | c.3001G>A (p.Gly1001Ser) c.2827G>A (p.Gly943Ser) n.2978G>A c.2824G>A (p.Gly942Ser) c.2998G>A (p.Gly1000Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.41966073G>A | CA4230477 | GLI3 | c.3000C>T (p.His1000=) c.2826C>T (p.His942=) n.2977C>T c.2823C>T (p.His941=) c.2997C>T (p.His999=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.41966073G>C | CA367319528 | GLI3 | c.3000C>G (p.His1000Gln) c.2826C>G (p.His942Gln) n.2977C>G c.2823C>G (p.His941Gln) c.2997C>G (p.His999Gln) | |
7 | g.41966073G= | CA1702661097 | GLI3 | c.3000C= (p.His1000=) c.2826C= (p.His942=) n.2977C= c.2823C= (p.His941=) c.2997C= (p.His999=) | |
7 | g.41966073G>T | CA367319530 | GLI3 | c.3000C>A (p.His1000Gln) c.2826C>A (p.His942Gln) n.2977C>A c.2823C>A (p.His941Gln) c.2997C>A (p.His999Gln) | dbSNP gnomAD v4 |
7 | g.41966074T>A | CA367319535 | GLI3 | c.2999A>T (p.His1000Leu) c.2825A>T (p.His942Leu) n.2976A>T c.2822A>T (p.His941Leu) c.2996A>T (p.His999Leu) | |
7 | g.41966074T>C | CA367319537 | GLI3 | c.2999A>G (p.His1000Arg) c.2825A>G (p.His942Arg) n.2976A>G c.2822A>G (p.His941Arg) c.2996A>G (p.His999Arg) | |
7 | g.41966074T>G | CA367319533 | GLI3 | c.2999A>C (p.His1000Pro) c.2825A>C (p.His942Pro) n.2976A>C c.2822A>C (p.His941Pro) c.2996A>C (p.His999Pro) | |
7 | g.41966075G>A | CA367319540 | GLI3 | c.2998C>T (p.His1000Tyr) c.2824C>T (p.His942Tyr) n.2975C>T c.2821C>T (p.His941Tyr) c.2995C>T (p.His999Tyr) | dbSNP gnomAD v4 |
7 | g.41966075G>C | CA367319542 | GLI3 | c.2998C>G (p.His1000Asp) c.2824C>G (p.His942Asp) n.2975C>G c.2821C>G (p.His941Asp) c.2995C>G (p.His999Asp) | gnomAD v4 |
7 | g.41966075G= | CA1702661098 | GLI3 | c.2998C= (p.His1000=) c.2824C= (p.His942=) n.2975C= c.2821C= (p.His941=) c.2995C= (p.His999=) | |
7 | g.41966075G>T | CA367319543 | GLI3 | c.2998C>A (p.His1000Asn) c.2824C>A (p.His942Asn) n.2975C>A c.2821C>A (p.His941Asn) c.2995C>A (p.His999Asn) | |
7 | g.41966076G>A | CA454661982 | GLI3 | c.2997C>T (p.Gly999=) c.2823C>T (p.Gly941=) n.2974C>T c.2820C>T (p.Gly940=) c.2994C>T (p.Gly998=) | gnomAD v4 |
7 | g.41966076G>C | CA454661983 | GLI3 | c.2997C>G (p.Gly999=) c.2823C>G (p.Gly941=) n.2974C>G c.2820C>G (p.Gly940=) c.2994C>G (p.Gly998=) | |
7 | g.41966076G>T | CA454661984 | GLI3 | c.2997C>A (p.Gly999=) c.2823C>A (p.Gly941=) n.2974C>A c.2820C>A (p.Gly940=) c.2994C>A (p.Gly998=) | gnomAD v4 |
7 | g.41966077C>A | CA4230478 | GLI3 | c.2996G>T (p.Gly999Val) c.2822G>T (p.Gly941Val) n.2973G>T c.2819G>T (p.Gly940Val) c.2993G>T (p.Gly998Val) | dbSNP ExAC gnomAD v4 |
7 | g.41966077C= | CA1702661099 | GLI3 | c.2996G= (p.Gly999=) c.2822G= (p.Gly941=) n.2973G= c.2819G= (p.Gly940=) c.2993G= (p.Gly998=) | |
7 | g.41966077C>G | CA367319547 | GLI3 | c.2996G>C (p.Gly999Ala) c.2822G>C (p.Gly941Ala) n.2973G>C c.2819G>C (p.Gly940Ala) c.2993G>C (p.Gly998Ala) | |
7 | g.41966077C>T | CA367319549 | GLI3 | c.2996G>A (p.Gly999Asp) c.2822G>A (p.Gly941Asp) n.2973G>A c.2819G>A (p.Gly940Asp) c.2993G>A (p.Gly998Asp) | gnomAD v4 |
7 | g.41966078C>A | CA367319552 | GLI3 | c.2995G>T (p.Gly999Cys) c.2821G>T (p.Gly941Cys) n.2972G>T c.2818G>T (p.Gly940Cys) c.2992G>T (p.Gly998Cys) | gnomAD v4 |
7 | g.41966078C>G | CA367319555 | GLI3 | c.2995G>C (p.Gly999Arg) c.2821G>C (p.Gly941Arg) n.2972G>C c.2818G>C (p.Gly940Arg) c.2992G>C (p.Gly998Arg) | |
7 | g.41966078C>T | CA367319553 | GLI3 | c.2995G>A (p.Gly999Ser) c.2821G>A (p.Gly941Ser) n.2972G>A c.2818G>A (p.Gly940Ser) c.2992G>A (p.Gly998Ser) | gnomAD v4 |