| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 7 | g.41966275T>A | CA367320318 | GLI3 | c.2798A>T (p.Tyr933Phe) c.2624A>T (p.Tyr875Phe) n.2775A>T c.2621A>T (p.Tyr874Phe) c.2795A>T (p.Tyr932Phe) | |
| 7 | g.41966275T>C | CA367320319 | GLI3 | c.2798A>G (p.Tyr933Cys) c.2624A>G (p.Tyr875Cys) n.2775A>G c.2621A>G (p.Tyr874Cys) c.2795A>G (p.Tyr932Cys) | |
| 7 | g.41966275T>G | CA367320320 | GLI3 | c.2798A>C (p.Tyr933Ser) c.2624A>C (p.Tyr875Ser) n.2775A>C c.2621A>C (p.Tyr874Ser) c.2795A>C (p.Tyr932Ser) | |
| 7 | g.41966276A>C | CA367320321 | GLI3 | c.2797T>G (p.Tyr933Asp) c.2623T>G (p.Tyr875Asp) n.2774T>G c.2620T>G (p.Tyr874Asp) c.2794T>G (p.Tyr932Asp) | dbSNP |
| 7 | g.41966276A>G | CA367320322 | GLI3 | c.2797T>C (p.Tyr933His) c.2623T>C (p.Tyr875His) n.2774T>C c.2620T>C (p.Tyr874His) c.2794T>C (p.Tyr932His) | |
| 7 | g.41966276A>T | CA367320323 | GLI3 | c.2797T>A (p.Tyr933Asn) c.2623T>A (p.Tyr875Asn) n.2774T>A c.2620T>A (p.Tyr874Asn) c.2794T>A (p.Tyr932Asn) | |
| 7 | g.41966277C>A | CA367320325 | GLI3 | c.2796G>T (p.Lys932Asn) c.2622G>T (p.Lys874Asn) n.2773G>T c.2619G>T (p.Lys873Asn) c.2793G>T (p.Lys931Asn) | |
| 7 | g.41966277C>G | CA367320324 | GLI3 | c.2796G>C (p.Lys932Asn) c.2622G>C (p.Lys874Asn) n.2773G>C c.2619G>C (p.Lys873Asn) c.2793G>C (p.Lys931Asn) | |
| 7 | g.41966277C>T | CA454662362 | GLI3 | c.2796G>A (p.Lys932=) c.2622G>A (p.Lys874=) n.2773G>A c.2619G>A (p.Lys873=) c.2793G>A (p.Lys931=) | |
| 7 | g.41966278T>A | CA367320326 | GLI3 | c.2795A>T (p.Lys932Met) c.2621A>T (p.Lys874Met) n.2772A>T c.2618A>T (p.Lys873Met) c.2792A>T (p.Lys931Met) | |
| 7 | g.41966278T>C | CA4230523 | GLI3 | c.2795A>G (p.Lys932Arg) c.2621A>G (p.Lys874Arg) n.2772A>G c.2618A>G (p.Lys873Arg) c.2792A>G (p.Lys931Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966278T>G | CA367320327 | GLI3 | c.2795A>C (p.Lys932Thr) c.2621A>C (p.Lys874Thr) n.2772A>C c.2618A>C (p.Lys873Thr) c.2792A>C (p.Lys931Thr) | COSMIC |
| 7 | g.41966278T= | CA1702661215 | GLI3 | c.2795A= (p.Lys932=) c.2621A= (p.Lys874=) n.2772A= c.2618A= (p.Lys873=) c.2792A= (p.Lys931=) | |
| 7 | g.41966279T>A | CA367320328 | GLI3 | c.2794A>T (p.Lys932Ter) c.2620A>T (p.Lys874Ter) n.2771A>T c.2617A>T (p.Lys873Ter) c.2791A>T (p.Lys931Ter) | |
| 7 | g.41966279T>C | CA367320329 | GLI3 | c.2794A>G (p.Lys932Glu) c.2620A>G (p.Lys874Glu) n.2771A>G c.2617A>G (p.Lys873Glu) c.2791A>G (p.Lys931Glu) | gnomAD v4 |
| 7 | g.41966279T>G | CA367320330 | GLI3 | c.2794A>C (p.Lys932Gln) c.2620A>C (p.Lys874Gln) n.2771A>C c.2617A>C (p.Lys873Gln) c.2791A>C (p.Lys931Gln) | |
| 7 | g.41966280G>A | CA454662370 | GLI3 | c.2793C>T (p.Ala931=) c.2619C>T (p.Ala873=) n.2770C>T c.2616C>T (p.Ala872=) c.2790C>T (p.Ala930=) | |
| 7 | g.41966280G>C | CA454662372 | GLI3 | c.2793C>G (p.Ala931=) c.2619C>G (p.Ala873=) n.2770C>G c.2616C>G (p.Ala872=) c.2790C>G (p.Ala930=) | |
| 7 | g.41966280G>T | CA454662371 | GLI3 | c.2793C>A (p.Ala931=) c.2619C>A (p.Ala873=) n.2770C>A c.2616C>A (p.Ala872=) c.2790C>A (p.Ala930=) | gnomAD v4 |
| 7 | g.41966281G>A | CA367320333 | GLI3 | c.2792C>T (p.Ala931Val) c.2618C>T (p.Ala873Val) n.2769C>T c.2615C>T (p.Ala872Val) c.2789C>T (p.Ala930Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966281G>C | CA367320331 | GLI3 | c.2792C>G (p.Ala931Gly) c.2618C>G (p.Ala873Gly) n.2769C>G c.2615C>G (p.Ala872Gly) c.2789C>G (p.Ala930Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.41966281G= | CA1702661216 | GLI3 | c.2792C= (p.Ala931=) c.2618C= (p.Ala873=) n.2769C= c.2615C= (p.Ala872=) c.2789C= (p.Ala930=) | |
| 7 | g.41966281G>T | CA367320332 | GLI3 | c.2792C>A (p.Ala931Asp) c.2618C>A (p.Ala873Asp) n.2769C>A c.2615C>A (p.Ala872Asp) c.2789C>A (p.Ala930Asp) | gnomAD v4 |
| 7 | g.41966282C>A | CA367320334 | GLI3 | c.2791G>T (p.Ala931Ser) c.2617G>T (p.Ala873Ser) n.2768G>T c.2614G>T (p.Ala872Ser) c.2788G>T (p.Ala930Ser) | gnomAD v4 |
| 7 | g.41966282C>G | CA367320335 | GLI3 | c.2791G>C (p.Ala931Pro) c.2617G>C (p.Ala873Pro) n.2768G>C c.2614G>C (p.Ala872Pro) c.2788G>C (p.Ala930Pro) | |
| 7 | g.41966282C>T | CA367320336 | GLI3 | c.2791G>A (p.Ala931Thr) c.2617G>A (p.Ala873Thr) n.2768G>A c.2614G>A (p.Ala872Thr) c.2788G>A (p.Ala930Thr) | gnomAD v4 |
| 7 | g.41966283C>A | CA367320337 | GLI3 | c.2790G>T (p.Lys930Asn) c.2616G>T (p.Lys872Asn) n.2767G>T c.2613G>T (p.Lys871Asn) c.2787G>T (p.Lys929Asn) | |
| 7 | g.41966283C= | CA1702661217 | GLI3 | c.2790G= (p.Lys930=) c.2616G= (p.Lys872=) n.2767G= c.2613G= (p.Lys871=) c.2787G= (p.Lys929=) | |
| 7 | g.41966283C>G | CA367320338 | GLI3 | c.2790G>C (p.Lys930Asn) c.2616G>C (p.Lys872Asn) n.2767G>C c.2613G>C (p.Lys871Asn) c.2787G>C (p.Lys929Asn) | |
| 7 | g.41966283C>T | CA454662378 | GLI3 | c.2790G>A (p.Lys930=) c.2616G>A (p.Lys872=) n.2767G>A c.2613G>A (p.Lys871=) c.2787G>A (p.Lys929=) | dbSNP gnomAD v4 |
| 7 | g.41966284T>A | CA367320341 | GLI3 | c.2789A>T (p.Lys930Met) c.2615A>T (p.Lys872Met) n.2766A>T c.2612A>T (p.Lys871Met) c.2786A>T (p.Lys929Met) | |
| 7 | g.41966284T>C | CA367320339 | GLI3 | c.2789A>G (p.Lys930Arg) c.2615A>G (p.Lys872Arg) n.2766A>G c.2612A>G (p.Lys871Arg) c.2786A>G (p.Lys929Arg) | |
| 7 | g.41966284T>G | CA367320340 | GLI3 | c.2789A>C (p.Lys930Thr) c.2615A>C (p.Lys872Thr) n.2766A>C c.2612A>C (p.Lys871Thr) c.2786A>C (p.Lys929Thr) | |
| 7 | g.41966285T>A | CA367320342 | GLI3 | c.2788A>T (p.Lys930Ter) c.2614A>T (p.Lys872Ter) n.2765A>T c.2611A>T (p.Lys871Ter) c.2785A>T (p.Lys929Ter) | |
| 7 | g.41966285T>C | CA367320343 | GLI3 | c.2788A>G (p.Lys930Glu) c.2614A>G (p.Lys872Glu) n.2765A>G c.2611A>G (p.Lys871Glu) c.2785A>G (p.Lys929Glu) | gnomAD v4 |
| 7 | g.41966285T>G | CA367320344 | GLI3 | c.2788A>C (p.Lys930Gln) c.2614A>C (p.Lys872Gln) n.2765A>C c.2611A>C (p.Lys871Gln) c.2785A>C (p.Lys929Gln) | gnomAD v4 |
| 7 | g.41966286G>A | CA454662388 | GLI3 | c.2787C>T (p.Leu929=) c.2613C>T (p.Leu871=) n.2764C>T c.2610C>T (p.Leu870=) c.2784C>T (p.Leu928=) | gnomAD v4 |
| 7 | g.41966286G>C | CA454662390 | GLI3 | c.2787C>G (p.Leu929=) c.2613C>G (p.Leu871=) n.2764C>G c.2610C>G (p.Leu870=) c.2784C>G (p.Leu928=) | |
| 7 | g.41966286G>T | CA454662391 | GLI3 | c.2787C>A (p.Leu929=) c.2613C>A (p.Leu871=) n.2764C>A c.2610C>A (p.Leu870=) c.2784C>A (p.Leu928=) | gnomAD v4 |
| 7 | g.41966287A>C | CA367320345 | GLI3 | c.2786T>G (p.Leu929Arg) c.2612T>G (p.Leu871Arg) n.2763T>G c.2609T>G (p.Leu870Arg) c.2783T>G (p.Leu928Arg) | |
| 7 | g.41966287A>G | CA367320346 | GLI3 | c.2786T>C (p.Leu929Pro) c.2612T>C (p.Leu871Pro) n.2763T>C c.2609T>C (p.Leu870Pro) c.2783T>C (p.Leu928Pro) | |
| 7 | g.41966287A>T | CA367320347 | GLI3 | c.2786T>A (p.Leu929His) c.2612T>A (p.Leu871His) n.2763T>A c.2609T>A (p.Leu870His) c.2783T>A (p.Leu928His) | |
| 7 | g.41966288G>A | CA367320348 | GLI3 | c.2785C>T (p.Leu929Phe) c.2611C>T (p.Leu871Phe) n.2762C>T c.2608C>T (p.Leu870Phe) c.2782C>T (p.Leu928Phe) | |
| 7 | g.41966288G>C | CA367320349 | GLI3 | c.2785C>G (p.Leu929Val) c.2611C>G (p.Leu871Val) n.2762C>G c.2608C>G (p.Leu870Val) c.2782C>G (p.Leu928Val) | |
| 7 | g.41966288G>T | CA367320350 | GLI3 | c.2785C>A (p.Leu929Ile) c.2611C>A (p.Leu871Ile) n.2762C>A c.2608C>A (p.Leu870Ile) c.2782C>A (p.Leu928Ile) | gnomAD v4 COSMIC |
| 7 | g.41966289G>A | CA4230524 | GLI3 | c.2784C>T (p.Arg928=) c.2610C>T (p.Arg870=) n.2761C>T c.2607C>T (p.Arg869=) c.2781C>T (p.Arg927=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966289G>C | CA454662399 | GLI3 | c.2784C>G (p.Arg928=) c.2610C>G (p.Arg870=) n.2761C>G c.2607C>G (p.Arg869=) c.2781C>G (p.Arg927=) | |
| 7 | g.41966289G= | CA1702661218 | GLI3 | c.2784C= (p.Arg928=) c.2610C= (p.Arg870=) n.2761C= c.2607C= (p.Arg869=) c.2781C= (p.Arg927=) | |
| 7 | g.41966289G>T | CA454662400 | GLI3 | c.2784C>A (p.Arg928=) c.2610C>A (p.Arg870=) n.2761C>A c.2607C>A (p.Arg869=) c.2781C>A (p.Arg927=) | gnomAD v4 |
| 7 | g.41966290C>A | CA367320351 | GLI3 | c.2783G>T (p.Arg928Leu) c.2609G>T (p.Arg870Leu) n.2760G>T c.2606G>T (p.Arg869Leu) c.2780G>T (p.Arg927Leu) | dbSNP gnomAD v4 |
| 7 | g.41966290C= | CA1702661219 | GLI3 | c.2783G= (p.Arg928=) c.2609G= (p.Arg870=) n.2760G= c.2606G= (p.Arg869=) c.2780G= (p.Arg927=) | |
| 7 | g.41966290C>G | CA367320352 | GLI3 | c.2783G>C (p.Arg928Pro) c.2609G>C (p.Arg870Pro) n.2760G>C c.2606G>C (p.Arg869Pro) c.2780G>C (p.Arg927Pro) | |
| 7 | g.41966290C>T | CA367320353 | GLI3 | c.2783G>A (p.Arg928His) c.2609G>A (p.Arg870His) n.2760G>A c.2606G>A (p.Arg869His) c.2780G>A (p.Arg927His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41966291G>A | CA367320356 | GLI3 | c.2782C>T (p.Arg928Cys) c.2608C>T (p.Arg870Cys) n.2759C>T c.2605C>T (p.Arg869Cys) c.2779C>T (p.Arg927Cys) | dbSNP gnomAD v4 |
| 7 | g.41966291G>C | CA367320354 | GLI3 | c.2782C>G (p.Arg928Gly) c.2608C>G (p.Arg870Gly) n.2759C>G c.2605C>G (p.Arg869Gly) c.2779C>G (p.Arg927Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.41966291G= | CA1702661220 | GLI3 | c.2782C= (p.Arg928=) c.2608C= (p.Arg870=) n.2759C= c.2605C= (p.Arg869=) c.2779C= (p.Arg927=) | |
| 7 | g.41966291G>T | CA367320355 | GLI3 | c.2782C>A (p.Arg928Ser) c.2608C>A (p.Arg870Ser) n.2759C>A c.2605C>A (p.Arg869Ser) c.2779C>A (p.Arg927Ser) | dbSNP gnomAD v4 |
| 7 | g.41966292G>A | CA454662404 | GLI3 | c.2781C>T (p.Tyr927=) c.2607C>T (p.Tyr869=) n.2758C>T c.2604C>T (p.Tyr868=) c.2778C>T (p.Tyr926=) | gnomAD v4 |
| 7 | g.41966292G>C | CA367320357 | GLI3 | c.2781C>G (p.Tyr927Ter) c.2607C>G (p.Tyr869Ter) n.2758C>G c.2604C>G (p.Tyr868Ter) c.2778C>G (p.Tyr926Ter) | |
| 7 | g.41966292G>T | CA367320358 | GLI3 | c.2781C>A (p.Tyr927Ter) c.2607C>A (p.Tyr869Ter) n.2758C>A c.2604C>A (p.Tyr868Ter) c.2778C>A (p.Tyr926Ter) | gnomAD v4 |
| 7 | g.41966293T>A | CA367320359 | GLI3 | c.2780A>T (p.Tyr927Phe) c.2606A>T (p.Tyr869Phe) n.2757A>T c.2603A>T (p.Tyr868Phe) c.2777A>T (p.Tyr926Phe) | |
| 7 | g.41966293T>C | CA367320360 | GLI3 | c.2780A>G (p.Tyr927Cys) c.2606A>G (p.Tyr869Cys) n.2757A>G c.2603A>G (p.Tyr868Cys) c.2777A>G (p.Tyr926Cys) | gnomAD v4 |
| 7 | g.41966293T>G | CA367320361 | GLI3 | c.2780A>C (p.Tyr927Ser) c.2606A>C (p.Tyr869Ser) n.2757A>C c.2603A>C (p.Tyr868Ser) c.2777A>C (p.Tyr926Ser) | |
| 7 | g.41966294A>C | CA367320364 | GLI3 | c.2779T>G (p.Tyr927Asp) c.2605T>G (p.Tyr869Asp) n.2756T>G c.2602T>G (p.Tyr868Asp) c.2776T>G (p.Tyr926Asp) | |
| 7 | g.41966294A>G | CA367320363 | GLI3 | c.2779T>C (p.Tyr927His) c.2605T>C (p.Tyr869His) n.2756T>C c.2602T>C (p.Tyr868His) c.2776T>C (p.Tyr926His) | |
| 7 | g.41966294A>T | CA367320362 | GLI3 | c.2779T>A (p.Tyr927Asn) c.2605T>A (p.Tyr869Asn) n.2756T>A c.2602T>A (p.Tyr868Asn) c.2776T>A (p.Tyr926Asn) | |
| 7 | g.41966295C>A | CA367320365 | GLI3 | c.2778G>T (p.Gln926His) c.2604G>T (p.Gln868His) n.2755G>T c.2601G>T (p.Gln867His) c.2775G>T (p.Gln925His) | |
| 7 | g.41966295C= | CA1702661221 | GLI3 | c.2778G= (p.Gln926=) c.2604G= (p.Gln868=) n.2755G= c.2601G= (p.Gln867=) c.2775G= (p.Gln925=) | |
| 7 | g.41966295C>G | CA367320366 | GLI3 | c.2778G>C (p.Gln926His) c.2604G>C (p.Gln868His) n.2755G>C c.2601G>C (p.Gln867His) c.2775G>C (p.Gln925His) | |
| 7 | g.41966295C>T | CA4230525 | GLI3 | c.2778G>A (p.Gln926=) c.2604G>A (p.Gln868=) n.2755G>A c.2601G>A (p.Gln867=) c.2775G>A (p.Gln925=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.41966298_41966300del | CA2695207661 | GLI3 | c.2776_2778del (p.Gln926del) c.2602_2604del (p.Gln868del) n.2753_2755del c.2599_2601del (p.Gln867del) c.2773_2775del (p.Gln925del) | |
| 7 | g.41966296T>A | CA367320367 | GLI3 | c.2777A>T (p.Gln926Leu) c.2603A>T (p.Gln868Leu) n.2754A>T c.2600A>T (p.Gln867Leu) c.2774A>T (p.Gln925Leu) | |
| 7 | g.41966296T>C | CA367320368 | GLI3 | c.2777A>G (p.Gln926Arg) c.2603A>G (p.Gln868Arg) n.2754A>G c.2600A>G (p.Gln867Arg) c.2774A>G (p.Gln925Arg) | |
| 7 | g.41966296T>G | CA367320369 | GLI3 | c.2777A>C (p.Gln926Pro) c.2603A>C (p.Gln868Pro) n.2754A>C c.2600A>C (p.Gln867Pro) c.2774A>C (p.Gln925Pro) | |
| 7 | g.41966297G>A | CA367320371 | GLI3 | c.2776C>T (p.Gln926Ter) c.2602C>T (p.Gln868Ter) n.2753C>T c.2599C>T (p.Gln867Ter) c.2773C>T (p.Gln925Ter) | gnomAD v4 |
| 7 | g.41966297G>C | CA367320370 | GLI3 | c.2776C>G (p.Gln926Glu) c.2602C>G (p.Gln868Glu) n.2753C>G c.2599C>G (p.Gln867Glu) c.2773C>G (p.Gln925Glu) | dbSNP |
| 7 | g.41966297G= | CA1702661222 | GLI3 | c.2776C= (p.Gln926=) c.2602C= (p.Gln868=) n.2753C= c.2599C= (p.Gln867=) c.2773C= (p.Gln925=) | |
| 7 | g.41966297G>T | CA156905337 | GLI3 | c.2776C>A (p.Gln926Lys) c.2602C>A (p.Gln868Lys) n.2753C>A c.2599C>A (p.Gln867Lys) c.2773C>A (p.Gln925Lys) | dbSNP gnomAD v4 |
| 7 | g.41966298C>A | CA367320372 | GLI3 | c.2775G>T (p.Gln925His) c.2601G>T (p.Gln867His) n.2752G>T c.2598G>T (p.Gln866His) c.2772G>T (p.Gln924His) | gnomAD v4 |
| 7 | g.41966298C>G | CA367320373 | GLI3 | c.2775G>C (p.Gln925His) c.2601G>C (p.Gln867His) n.2752G>C c.2598G>C (p.Gln866His) c.2772G>C (p.Gln924His) | |
| 7 | g.41966298C>T | CA454662426 | GLI3 | c.2775G>A (p.Gln925=) c.2601G>A (p.Gln867=) n.2752G>A c.2598G>A (p.Gln866=) c.2772G>A (p.Gln924=) | gnomAD v4 |
| 7 | g.41966299T>A | CA367320374 | GLI3 | c.2774A>T (p.Gln925Leu) c.2600A>T (p.Gln867Leu) n.2751A>T c.2597A>T (p.Gln866Leu) c.2771A>T (p.Gln924Leu) | |
| 7 | g.41966299T>C | CA367320375 | GLI3 | c.2774A>G (p.Gln925Arg) c.2600A>G (p.Gln867Arg) n.2751A>G c.2597A>G (p.Gln866Arg) c.2771A>G (p.Gln924Arg) | |
| 7 | g.41966299T>G | CA367320376 | GLI3 | c.2774A>C (p.Gln925Pro) c.2600A>C (p.Gln867Pro) n.2751A>C c.2597A>C (p.Gln866Pro) c.2771A>C (p.Gln924Pro) | ClinVar |
| 7 | g.41966300G>A | CA367320377 | GLI3 | c.2773C>T (p.Gln925Ter) c.2599C>T (p.Gln867Ter) n.2750C>T c.2596C>T (p.Gln866Ter) c.2770C>T (p.Gln924Ter) | ClinVar dbSNP |
| 7 | g.41966300G>C | CA367320378 | GLI3 | c.2773C>G (p.Gln925Glu) c.2599C>G (p.Gln867Glu) n.2750C>G c.2596C>G (p.Gln866Glu) c.2770C>G (p.Gln924Glu) | |
| 7 | g.41966300G= | CA1702661223 | GLI3 | c.2773C= (p.Gln925=) c.2599C= (p.Gln867=) n.2750C= c.2596C= (p.Gln866=) c.2770C= (p.Gln924=) | |
| 7 | g.41966300G>T | CA367320379 | GLI3 | c.2773C>A (p.Gln925Lys) c.2599C>A (p.Gln867Lys) n.2750C>A c.2596C>A (p.Gln866Lys) c.2770C>A (p.Gln924Lys) | gnomAD v4 |
| 7 | g.41966301G>A | CA454662439 | GLI3 | c.2772C>T (p.Ala924=) c.2598C>T (p.Ala866=) n.2749C>T c.2595C>T (p.Ala865=) c.2769C>T (p.Ala923=) | |
| 7 | g.41966301G>C | CA4230526 | GLI3 | c.2772C>G (p.Ala924=) c.2598C>G (p.Ala866=) n.2749C>G c.2595C>G (p.Ala865=) c.2769C>G (p.Ala923=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966301G= | CA1702661224 | GLI3 | c.2772C= (p.Ala924=) c.2598C= (p.Ala866=) n.2749C= c.2595C= (p.Ala865=) c.2769C= (p.Ala923=) | |
| 7 | g.41966301G>T | CA454662438 | GLI3 | c.2772C>A (p.Ala924=) c.2598C>A (p.Ala866=) n.2749C>A c.2595C>A (p.Ala865=) c.2769C>A (p.Ala923=) | dbSNP gnomAD v4 |
| 7 | g.41966302G>A | CA367320380 | GLI3 | c.2771C>T (p.Ala924Val) c.2597C>T (p.Ala866Val) n.2748C>T c.2594C>T (p.Ala865Val) c.2768C>T (p.Ala923Val) | dbSNP |
| 7 | g.41966302G>C | CA367320381 | GLI3 | c.2771C>G (p.Ala924Gly) c.2597C>G (p.Ala866Gly) n.2748C>G c.2594C>G (p.Ala865Gly) c.2768C>G (p.Ala923Gly) | |
| 7 | g.41966302G= | CA1702661225 | GLI3 | c.2771C= (p.Ala924=) c.2597C= (p.Ala866=) n.2748C= c.2594C= (p.Ala865=) c.2768C= (p.Ala923=) | |
| 7 | g.41966302G>T | CA367320382 | GLI3 | c.2771C>A (p.Ala924Asp) c.2597C>A (p.Ala866Asp) n.2748C>A c.2594C>A (p.Ala865Asp) c.2768C>A (p.Ala923Asp) | dbSNP gnomAD v4 |
| 7 | g.41966303C>A | CA367320385 | GLI3 | c.2770G>T (p.Ala924Ser) c.2596G>T (p.Ala866Ser) n.2747G>T c.2593G>T (p.Ala865Ser) c.2767G>T (p.Ala923Ser) | dbSNP |
| 7 | g.41966303C= | CA1702661226 | GLI3 | c.2770G= (p.Ala924=) c.2596G= (p.Ala866=) n.2747G= c.2593G= (p.Ala865=) c.2767G= (p.Ala923=) | |
| 7 | g.41966303C>G | CA367320383 | GLI3 | c.2770G>C (p.Ala924Pro) c.2596G>C (p.Ala866Pro) n.2747G>C c.2593G>C (p.Ala865Pro) c.2767G>C (p.Ala923Pro) | |
| 7 | g.41966303C>T | CA367320384 | GLI3 | c.2770G>A (p.Ala924Thr) c.2596G>A (p.Ala866Thr) n.2747G>A c.2593G>A (p.Ala865Thr) c.2767G>A (p.Ala923Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966304G>A | CA4230527 | GLI3 | c.2769C>T (p.Pro923=) c.2595C>T (p.Pro865=) n.2746C>T c.2592C>T (p.Pro864=) c.2766C>T (p.Pro922=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41966304G>C | CA454662442 | GLI3 | c.2769C>G (p.Pro923=) c.2595C>G (p.Pro865=) n.2746C>G c.2592C>G (p.Pro864=) c.2766C>G (p.Pro922=) | |
| 7 | g.41966304G= | CA1702661227 | GLI3 | c.2769C= (p.Pro923=) c.2595C= (p.Pro865=) n.2746C= c.2592C= (p.Pro864=) c.2766C= (p.Pro922=) | |
| 7 | g.41966304G>T | CA454662444 | GLI3 | c.2769C>A (p.Pro923=) c.2595C>A (p.Pro865=) n.2746C>A c.2592C>A (p.Pro864=) c.2766C>A (p.Pro922=) | gnomAD v4 |
| 7 | g.41966306del | CA2682510164 | GLI3 | c.2769del (p.Ala924ProfsTer28) c.2595del (p.Ala866ProfsTer28) n.2746del c.2592del (p.Ala865ProfsTer28) c.2766del (p.Ala923ProfsTer28) | gnomAD v4 |
| 7 | g.41966305G>A | CA367320388 | GLI3 | c.2768C>T (p.Pro923Leu) c.2594C>T (p.Pro865Leu) n.2745C>T c.2591C>T (p.Pro864Leu) c.2765C>T (p.Pro922Leu) | |
| 7 | g.41966305G>C | CA367320386 | GLI3 | c.2768C>G (p.Pro923Arg) c.2594C>G (p.Pro865Arg) n.2745C>G c.2591C>G (p.Pro864Arg) c.2765C>G (p.Pro922Arg) | |
| 7 | g.41966305G>T | CA367320387 | GLI3 | c.2768C>A (p.Pro923His) c.2594C>A (p.Pro865His) n.2745C>A c.2591C>A (p.Pro864His) c.2765C>A (p.Pro922His) | gnomAD v4 |
| 7 | g.41966306G>A | CA367320389 | GLI3 | c.2767C>T (p.Pro923Ser) c.2593C>T (p.Pro865Ser) n.2744C>T c.2590C>T (p.Pro864Ser) c.2764C>T (p.Pro922Ser) | dbSNP gnomAD v4 |
| 7 | g.41966306G>C | CA367320390 | GLI3 | c.2767C>G (p.Pro923Ala) c.2593C>G (p.Pro865Ala) n.2744C>G c.2590C>G (p.Pro864Ala) c.2764C>G (p.Pro922Ala) | dbSNP |
| 7 | g.41966306G= | CA1702661228 | GLI3 | c.2767C= (p.Pro923=) c.2593C= (p.Pro865=) n.2744C= c.2590C= (p.Pro864=) c.2764C= (p.Pro922=) | |
| 7 | g.41966306G>T | CA367320391 | GLI3 | c.2767C>A (p.Pro923Thr) c.2593C>A (p.Pro865Thr) n.2744C>A c.2590C>A (p.Pro864Thr) c.2764C>A (p.Pro922Thr) | gnomAD v4 |
| 7 | g.41966307C>A | CA454662446 | GLI3 | c.2766G>T (p.Thr922=) c.2592G>T (p.Thr864=) n.2743G>T c.2589G>T (p.Thr863=) c.2763G>T (p.Thr921=) | |
| 7 | g.41966307C= | CA1702661229 | GLI3 | c.2766G= (p.Thr922=) c.2592G= (p.Thr864=) n.2743G= c.2589G= (p.Thr863=) c.2763G= (p.Thr921=) | |
| 7 | g.41966307C>G | CA454662454 | GLI3 | c.2766G>C (p.Thr922=) c.2592G>C (p.Thr864=) n.2743G>C c.2589G>C (p.Thr863=) c.2763G>C (p.Thr921=) | |
| 7 | g.41966307C>T | CA4230528 | GLI3 | c.2766G>A (p.Thr922=) c.2592G>A (p.Thr864=) n.2743G>A c.2589G>A (p.Thr863=) c.2763G>A (p.Thr921=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966308G>A | CA4230529 | GLI3 | c.2765C>T (p.Thr922Met) c.2591C>T (p.Thr864Met) n.2742C>T c.2588C>T (p.Thr863Met) c.2762C>T (p.Thr921Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.41966308G>C | CA367320392 | GLI3 | c.2765C>G (p.Thr922Arg) c.2591C>G (p.Thr864Arg) n.2742C>G c.2588C>G (p.Thr863Arg) c.2762C>G (p.Thr921Arg) | gnomAD v4 |
| 7 | g.41966308G= | CA1702661230 | GLI3 | c.2765C= (p.Thr922=) c.2591C= (p.Thr864=) n.2742C= c.2588C= (p.Thr863=) c.2762C= (p.Thr921=) | |
| 7 | g.41966308G>T | CA367320393 | GLI3 | c.2765C>A (p.Thr922Lys) c.2591C>A (p.Thr864Lys) n.2742C>A c.2588C>A (p.Thr863Lys) c.2762C>A (p.Thr921Lys) | |
| 7 | g.41966309T>A | CA367320394 | GLI3 | c.2764A>T (p.Thr922Ser) c.2590A>T (p.Thr864Ser) n.2741A>T c.2587A>T (p.Thr863Ser) c.2761A>T (p.Thr921Ser) | |
| 7 | g.41966309T>C | CA367320395 | GLI3 | c.2764A>G (p.Thr922Ala) c.2590A>G (p.Thr864Ala) n.2741A>G c.2587A>G (p.Thr863Ala) c.2761A>G (p.Thr921Ala) | |
| 7 | g.41966309T>G | CA367320396 | GLI3 | c.2764A>C (p.Thr922Pro) c.2590A>C (p.Thr864Pro) n.2741A>C c.2587A>C (p.Thr863Pro) c.2761A>C (p.Thr921Pro) | |
| 7 | g.41966309_41966311del | CA2682510165 | GLI3 | c.2762_2764del (p.Leu921_Thr922delinsPro) c.2588_2590del (p.Leu863_Thr864delinsPro) n.2739_2741del c.2585_2587del (p.Leu862_Thr863delinsPro) c.2759_2761del (p.Leu920_Thr921delinsPro) | gnomAD v4 |
| 7 | g.41966309_41966364delinsTGAGGCTGAGCAGGCTGGGCAGGCCGTCGCTCTGGCTGGCTTCGCTGGAGCGGCGC | CA1702661231 | GLI3 | c.2709_2764delinsGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGCCCAGCCTGCTCAGCCTCA (p.Ser903=) c.2535_2590delinsGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGCCCAGCCTGCTCAGCCTCA (p.Ser845=) n.2686_2741delinsGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGCCCAGCCTGCTCAGCCTCA c.2532_2587delinsGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGCCCAGCCTGCTCAGCCTCA (p.Ser844=) c.2706_2761delinsGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGCCCAGCCTGCTCAGCCTCA (p.Ser902=) | |
| 7 | g.41966310G>A | CA454662460 | GLI3 | c.2763C>T (p.Leu921=) c.2589C>T (p.Leu863=) n.2740C>T c.2586C>T (p.Leu862=) c.2760C>T (p.Leu920=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.41966310G>C | CA454662461 | GLI3 | c.2763C>G (p.Leu921=) c.2589C>G (p.Leu863=) n.2740C>G c.2586C>G (p.Leu862=) c.2760C>G (p.Leu920=) | gnomAD v4 |
| 7 | g.41966310G= | CA1702661232 | GLI3 | c.2763C= (p.Leu921=) c.2589C= (p.Leu863=) n.2740C= c.2586C= (p.Leu862=) c.2760C= (p.Leu920=) | |
| 7 | g.41966310G>T | CA454662463 | GLI3 | c.2763C>A (p.Leu921=) c.2589C>A (p.Leu863=) n.2740C>A c.2586C>A (p.Leu862=) c.2760C>A (p.Leu920=) | gnomAD v4 |
| 7 | g.41966310_41966319delinsGAGGCTGAGC | CA1702661233 | GLI3 | c.2754_2763delinsGCTCAGCCTC (p.Leu918=) c.2580_2589delinsGCTCAGCCTC (p.Leu860=) n.2731_2740delinsGCTCAGCCTC c.2577_2586delinsGCTCAGCCTC (p.Leu859=) c.2751_2760delinsGCTCAGCCTC (p.Leu917=) | |
| 7 | g.41966315_41966369del | CA1139660047 | GLI3 | c.2709_2763del (p.Arg905ProfsTer?) c.2535_2589del (p.Arg847ProfsTer?) n.2686_2740del c.2532_2586del (p.Arg846ProfsTer?) c.2706_2760del (p.Arg904ProfsTer?) | ClinVar dbSNP |
| 7 | g.41966311A>C | CA367320399 | GLI3 | c.2762T>G (p.Leu921Arg) c.2588T>G (p.Leu863Arg) n.2739T>G c.2585T>G (p.Leu862Arg) c.2759T>G (p.Leu920Arg) | |
| 7 | g.41966311A>G | CA367320397 | GLI3 | c.2762T>C (p.Leu921Pro) c.2588T>C (p.Leu863Pro) n.2739T>C c.2585T>C (p.Leu862Pro) c.2759T>C (p.Leu920Pro) | |
| 7 | g.41966311A>T | CA367320398 | GLI3 | c.2762T>A (p.Leu921His) c.2588T>A (p.Leu863His) n.2739T>A c.2585T>A (p.Leu862His) c.2759T>A (p.Leu920His) | |
| 7 | g.41966317_41966325del | CA1702661234 | GLI3 | c.2754_2762del (p.Leu919_Leu921del) c.2580_2588del (p.Leu861_Leu863del) n.2731_2739del c.2577_2585del (p.Leu860_Leu862del) c.2751_2759del (p.Leu918_Leu920del) | dbSNP |
| 7 | g.41966312G>A | CA367320400 | GLI3 | c.2761C>T (p.Leu921Phe) c.2587C>T (p.Leu863Phe) n.2738C>T c.2584C>T (p.Leu862Phe) c.2758C>T (p.Leu920Phe) | |
| 7 | g.41966312G>C | CA367320401 | GLI3 | c.2761C>G (p.Leu921Val) c.2587C>G (p.Leu863Val) n.2738C>G c.2584C>G (p.Leu862Val) c.2758C>G (p.Leu920Val) | |
| 7 | g.41966312G>T | CA367320402 | GLI3 | c.2761C>A (p.Leu921Ile) c.2587C>A (p.Leu863Ile) n.2738C>A c.2584C>A (p.Leu862Ile) c.2758C>A (p.Leu920Ile) | |
| 7 | g.41966313G>A | CA454662466 | GLI3 | c.2760C>T (p.Ser920=) c.2586C>T (p.Ser862=) n.2737C>T c.2583C>T (p.Ser861=) c.2757C>T (p.Ser919=) | |
| 7 | g.41966313G>C | CA367320403 | GLI3 | c.2760C>G (p.Ser920Arg) c.2586C>G (p.Ser862Arg) n.2737C>G c.2583C>G (p.Ser861Arg) c.2757C>G (p.Ser919Arg) | |
| 7 | g.41966313G>T | CA367320404 | GLI3 | c.2760C>A (p.Ser920Arg) c.2586C>A (p.Ser862Arg) n.2737C>A c.2583C>A (p.Ser861Arg) c.2757C>A (p.Ser919Arg) | |
| 7 | g.41966314C>A | CA367320405 | GLI3 | c.2759G>T (p.Ser920Ile) c.2585G>T (p.Ser862Ile) n.2736G>T c.2582G>T (p.Ser861Ile) c.2756G>T (p.Ser919Ile) | |
| 7 | g.41966314C>G | CA367320406 | GLI3 | c.2759G>C (p.Ser920Thr) c.2585G>C (p.Ser862Thr) n.2736G>C c.2582G>C (p.Ser861Thr) c.2756G>C (p.Ser919Thr) | |
| 7 | g.41966314C>T | CA367320407 | GLI3 | c.2759G>A (p.Ser920Asn) c.2585G>A (p.Ser862Asn) n.2736G>A c.2582G>A (p.Ser861Asn) c.2756G>A (p.Ser919Asn) | gnomAD v4 |
| 7 | g.41966315T>A | CA367320408 | GLI3 | c.2758A>T (p.Ser920Cys) c.2584A>T (p.Ser862Cys) n.2735A>T c.2581A>T (p.Ser861Cys) c.2755A>T (p.Ser919Cys) | |
| 7 | g.41966315T>C | CA367320409 | GLI3 | c.2758A>G (p.Ser920Gly) c.2584A>G (p.Ser862Gly) n.2735A>G c.2581A>G (p.Ser861Gly) c.2755A>G (p.Ser919Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966315T>G | CA367320410 | GLI3 | c.2758A>C (p.Ser920Arg) c.2584A>C (p.Ser862Arg) n.2735A>C c.2581A>C (p.Ser861Arg) c.2755A>C (p.Ser919Arg) | |
| 7 | g.41966315T= | CA1702661235 | GLI3 | c.2758A= (p.Ser920=) c.2584A= (p.Ser862=) n.2735A= c.2581A= (p.Ser861=) c.2755A= (p.Ser919=) |