Unique variants in gene GLI3

Information The variants shown are described using the NM_000168.5 transcript reference sequence.

276 entries on 3 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-42G>A r.(=) p.(=) g.42262894C>T Copied from the Exome Variant Server GLI3_000273 1/13006 1/8600 0/4406
1 c.-29G>A r.(=) p.(=) g.42262881C>T Copied from the Exome Variant Server GLI3_000271 1/13006 1/8600 0/4406
1 c.30C>T r.(=) p.(=) g.42262823G>A Copied from the Exome Variant Server GLI3_000269 3/13006 0/8600 3/4406
1 c.90C>T r.(=) p.(=) g.42262763G>A Copied from the Exome Variant Server GLI3_000266 1/13006 1/8600 0/4406
1 c.124+10A>G r.(=) p.(=) g.42262719T>C Copied from the Exome Variant Server GLI3_000264 3/13006 1/8600 2/4406
1 c.124+15G>C r.(=) p.(=) g.42262714C>G Copied from the Exome Variant Server GLI3_000262 1/13006 0/8600 1/4406
1 c.124+31G>A r.(=) p.(=) g.42262698C>T Copied from the Exome Variant Server GLI3_000259 1/13006 0/8600 1/4406
1 c.125-47C>G r.(=) p.(=) g.42188114G>C Copied from the Exome Variant Server GLI3_000276 1/13006 1/8600 0/4406
1 c.168C>T r.(=) p.(=) g.42188024G>A Copied from the Exome Variant Server GLI3_000275 1/13006 1/8600 0/4406
1 c.199G>A r.(?) p.(Gly67Arg) g.42187993C>T Copied from the Exome Variant Server GLI3_000274 1/13006 1/8600 0/4406
1 c.211G>A r.(?) p.(Val71Ile) g.42187981C>T Copied from the Exome Variant Server GLI3_000272 1/13006 1/8600 0/4406
1 c.223C>G r.(?) p.(Pro75Ala) g.42187969G>C Copied from the Exome Variant Server GLI3_000270 1/13006 1/8600 0/4406
1 c.240C>T r.(=) p.(=) g.42187952G>A Copied from the Exome Variant Server GLI3_000268 1/13006 1/8600 0/4406
1 c.241G>A r.(?) p.(Glu81Lys) g.42187951C>T Copied from the Exome Variant Server GLI3_000267 3/13006 3/8600 0/4406
1 c.280C>T r.(=) p.(=) g.42187912G>A Copied from the Exome Variant Server GLI3_000265 24/13006 0/8600 24/4406
1 c.288C>T r.(=) p.(=) g.42187904G>A Copied from the Exome Variant Server GLI3_000263 1/13006 1/8600 0/4406
1 c.309G>A r.(=) p.(=) g.42187883C>T Copied from the Exome Variant Server GLI3_000260 2/13006 2/8600 0/4406
1 c.315C>T r.(=) p.(=) g.42187877G>A Copied from the Exome Variant Server GLI3_000257 4/13006 1/8600 3/4406
1 c.341G>A r.(?) p.(Arg114Lys) g.42187851C>T Copied from the Exome Variant Server GLI3_000256 43/13006 36/8600 7/4406
1 c.363C>T r.(=) p.(=) g.42187829G>A Copied from the Exome Variant Server GLI3_000254 1/13006 1/8600 0/4406
1 c.367+19C>T r.(=) p.(=) g.42187806G>A Copied from the Exome Variant Server GLI3_000251 1/13006 1/8600 0/4406
1 c.367+20G>A r.(=) p.(=) g.42187805C>T Copied from the Exome Variant Server GLI3_000249 3/13006 2/8600 1/4406
1 c.367+27G>A r.(=) p.(=) g.42187798C>T Copied from the Exome Variant Server GLI3_000247 1/13006 0/8600 1/4406
1 c.368-38G>A r.(=) p.(=) g.42116494C>T Copied from the Exome Variant Server GLI3_000246 1/13006 0/8600 1/4406
1 c.368-30G>A r.(=) p.(=) g.42116486C>T Copied from the Exome Variant Server GLI3_000244 1/13006 1/8600 0/4406
1 c.368-19G>A r.(=) p.(=) g.42116475C>T Copied from the Exome Variant Server GLI3_000242 104/13006 92/8600 12/4406
1 c.387T>G r.(=) p.(=) g.42116437A>C Copied from the Exome Variant Server GLI3_000261 1/13006 1/8600 0/4406
1 c.433C>T r.(?) p.(Arg145Cys) g.42116391G>A Copied from the Exome Variant Server GLI3_000258 1/13006 1/8600 0/4406
1 c.438C>T r.(=) p.(=) g.42116386G>A Copied from the Exome Variant Server GLI3_000255 2/13006 0/8600 2/4406
1 c.444C>T r.(=) p.(=) g.42116380G>A Copied from the Exome Variant Server GLI3_000253 29/13006 0/8600 29/4406
1 c.473+37C>T r.(=) p.(=) g.42116314G>A Copied from the Exome Variant Server GLI3_000252 12/13006 11/8600 1/4406
1 c.473+38G>A r.(=) p.(=) g.42116313C>T Copied from the Exome Variant Server GLI3_000250 3/13006 2/8600 1/4406
1 c.474-4C>T r.spl? p.? g.42088299G>A Copied from the Exome Variant Server GLI3_000248 1/13006 1/8600 0/4406
1 c.480C>T r.(=) p.(=) g.42088289G>A Copied from the Exome Variant Server GLI3_000245 2/13006 2/8600 0/4406
1 c.501G>A r.(=) p.(=) g.42088268C>T Copied from the Exome Variant Server GLI3_000243 12/13006 0/8600 12/4406
1 c.537C>T r.(=) p.(=) g.42088232G>A Copied from the Exome Variant Server GLI3_000241 909/13006 816/8600 93/4406
1 c.539G>A r.(?) p.(Arg180Gln) g.42088230C>T Copied from the Exome Variant Server GLI3_000240 4/13006 4/8600 0/4406
1 c.547A>G r.(?) p.(Thr183Ala) g.42088222T>C Copied from the Exome Variant Server GLI3_000239 8608/13006 4841/8600 3767/4406
1 c.563C>A r.(?) p.(Ser188Tyr) g.42088206G>T Copied from the Exome Variant Server GLI3_000238 2/13006 2/8600 0/4406
1 c.565C>T r.(?) p.(Pro189Ser) g.42088204G>A Copied from the Exome Variant Server GLI3_000237 2/13006 2/8600 0/4406
1 c.567C>T r.(=) p.(=) g.42088202G>A Copied from the Exome Variant Server GLI3_000236 2/13006 2/8600 0/4406
1 c.636G>A r.(=) p.(=) g.42088133C>T Copied from the Exome Variant Server GLI3_000235 2/13006 1/8600 1/4406
1 c.673A>G r.(?) p.(Thr225Ala) g.42088096T>C Copied from the Exome Variant Server GLI3_000234 1/13006 1/8600 0/4406
1 c.679+9A>G r.(=) p.(=) g.42088081T>C Copied from the Exome Variant Server GLI3_000233 1/13006 1/8600 0/4406
1 c.679+33C>T r.(=) p.(=) g.42088057G>A Copied from the Exome Variant Server GLI3_000232 1/13006 1/8600 0/4406
1 c.679+40C>A r.(=) p.(=) g.42088050G>T Copied from the Exome Variant Server GLI3_000231 27/13006 27/8600 0/4406
1 c.679+44C>T r.(=) p.(=) g.42088046G>A Copied from the Exome Variant Server GLI3_000230 1/13006 1/8600 0/4406
1 c.679+48C>G r.(=) p.(=) g.42088042G>C Copied from the Exome Variant Server GLI3_000229 1/13006 0/8600 1/4406
1 c.679+49C>T r.(=) p.(=) g.42088041G>A Copied from the Exome Variant Server GLI3_000228 3/13006 0/8600 3/4406
1 c.680-49T>C r.(=) p.(=) g.42085178A>G Copied from the Exome Variant Server GLI3_000227 1/13006 0/8600 1/4406
1 c.680-25C>T r.(=) p.(=) g.42085154G>A Copied from the Exome Variant Server GLI3_000226 24/13006 21/8600 3/4406
1 c.680-20C>T r.(=) p.(=) g.42085149G>A Copied from the Exome Variant Server GLI3_000225 2/13006 2/8600 0/4406
1 c.695T>C r.(?) p.(Val232Ala) g.42085114A>G Copied from the Exome Variant Server GLI3_000224 1/13006 1/8600 0/4406
1 c.748C>T r.(?) p.(Pro250Ser) g.42085061G>A Copied from the Exome Variant Server GLI3_000223 2/13006 2/8600 0/4406
1 c.780C>T r.(=) p.(=) g.42085029G>A Copied from the Exome Variant Server GLI3_000222 1/13006 1/8600 0/4406
1 c.781G>A r.(?) p.(Ala261Thr) g.42085028C>T Copied from the Exome Variant Server GLI3_000221 1/13006 1/8600 0/4406
1 c.827-50G>A r.(=) p.(=) g.42079888C>T Copied from the Exome Variant Server GLI3_000220 1/13006 1/8600 0/4406
1 c.827-38A>G r.(=) p.(=) g.42079876T>C Copied from the Exome Variant Server GLI3_000219 1/13006 1/8600 0/4406
1 c.827-15T>C r.(=) p.(=) g.42079853A>G Copied from the Exome Variant Server GLI3_000218 1/13006 1/8600 0/4406
1 c.827-10T>C r.(=) p.(=) g.42079848A>G Copied from the Exome Variant Server GLI3_000217 1/13006 1/8600 0/4406
1 c.840C>G r.(=) p.(=) g.42079825G>C Copied from the Exome Variant Server GLI3_000216 37/13006 35/8600 2/4406
1 c.861G>T r.(?) p.(Arg287Ser) g.42079804C>A Copied from the Exome Variant Server GLI3_000215 2/13006 0/8600 2/4406
1 c.864G>A r.(=) p.(=) g.42079801C>T Copied from the Exome Variant Server GLI3_000214 1/13006 1/8600 0/4406
1 c.900C>T r.(=) p.(=) g.42079765G>A Copied from the Exome Variant Server GLI3_000213 956/13006 818/8600 138/4406
1 c.905A>G r.(?) p.(His302Arg) g.42079760T>C Copied from the Exome Variant Server GLI3_000212 1/13006 0/8600 1/4406
1 c.936G>A r.(=) p.(=) g.42079729C>T Copied from the Exome Variant Server GLI3_000210 3/13006 2/8600 1/4406
1 c.954C>T r.(=) p.(=) g.42079711G>A Copied from the Exome Variant Server GLI3_000208 1/13006 1/8600 0/4406
1 c.963C>T r.(=) p.(=) g.42079702G>A Copied from the Exome Variant Server GLI3_000206 1/13006 1/8600 0/4406
1 c.991A>G r.(?) p.(Ser331Gly) g.42079674T>C Copied from the Exome Variant Server GLI3_000204 1/13006 0/8600 1/4406
1 c.1028+3A>T r.spl? p.? g.42079634T>A Copied from the Exome Variant Server GLI3_000202 4/13006 0/8600 4/4406
1 c.1028+14T>C r.(=) p.(=) g.42079623A>G Copied from the Exome Variant Server GLI3_000200 1/13006 0/8600 1/4406
1 c.1028+15G>A r.(=) p.(=) g.42079622C>T Copied from the Exome Variant Server GLI3_000198 6/13006 6/8600 0/4406
1 c.1028+24A>G r.(=) p.(=) g.42079613T>C Copied from the Exome Variant Server GLI3_000196 6/13006 6/8600 0/4406
1 c.1028+25T>C r.(=) p.(=) g.42079612A>G Copied from the Exome Variant Server GLI3_000194 1/13006 0/8600 1/4406
1 c.1028+37A>G r.(=) p.(=) g.42079600T>C Copied from the Exome Variant Server GLI3_000192 3/13006 0/8600 3/4406
1 c.1029-16_1029-15insT r.(=) p.(=) g.42066026_42066027insA Copied from the Exome Variant Server GLI3_000190 41/12518 1/8254 40/4264
1 c.1029-7C>T r.(=) p.(=) g.42066018G>A Copied from the Exome Variant Server GLI3_000211 158/13006 0/8600 158/4406
1 c.1056C>T r.(=) p.(=) g.42065984G>A Copied from the Exome Variant Server GLI3_000209 1/13006 1/8600 0/4406
1 c.1066T>C r.(?) p.(Ser356Pro) g.42065974A>G Copied from the Exome Variant Server GLI3_000207 1/13006 0/8600 1/4406
1 c.1077G>A r.(?) p.(Met359Ile) g.42065963C>T Copied from the Exome Variant Server GLI3_000205 1/13006 1/8600 0/4406
1 c.1111G>C r.(?) p.(Gly371Arg) g.42065929C>G Copied from the Exome Variant Server GLI3_000203 1/13006 1/8600 0/4406
1 c.1140C>T r.(=) p.(=) g.42065900G>A Copied from the Exome Variant Server GLI3_000201 1/13006 0/8600 1/4406
1 c.1159T>C r.(?) p.(Phe387Leu) g.42065881A>G Copied from the Exome Variant Server GLI3_000199 1/13006 1/8600 0/4406
1 c.1169A>G r.(?) p.(Gln390Arg) g.42065871T>C Copied from the Exome Variant Server GLI3_000197 1/13006 0/8600 1/4406
1 c.1194G>A r.(=) p.(=) g.42065846C>T Copied from the Exome Variant Server GLI3_000195 2/13006 1/8600 1/4406
1 c.1204C>G r.(?) p.(Pro402Ala) g.42065836G>C Copied from the Exome Variant Server GLI3_000193 1/13006 1/8600 0/4406
1 c.1207G>A r.(?) p.(Val403Ile) g.42065833C>T Copied from the Exome Variant Server GLI3_000191 1/13006 1/8600 0/4406
1 c.1221C>T r.(=) p.(=) g.42065819G>A Copied from the Exome Variant Server GLI3_000189 1/13006 1/8600 0/4406
1 c.1242+5G>C r.spl? p.? g.42065793C>G Copied from the Exome Variant Server GLI3_000188 1/13006 1/8600 0/4406
1 c.1242+8G>A r.(=) p.(=) g.42065790C>T Copied from the Exome Variant Server GLI3_000187 4/13006 0/8600 4/4406
1 c.1242+25C>T r.(=) p.(=) g.42065773G>A Copied from the Exome Variant Server GLI3_000186 2/13004 0/8600 2/4404
1 c.1242+30G>A r.(=) p.(=) g.42065768C>T Copied from the Exome Variant Server GLI3_000185 5/13004 1/8600 4/4404
1 c.1242+43G>A r.(=) p.(=) g.42065755C>T Copied from the Exome Variant Server GLI3_000184 1/12998 0/8594 1/4404
1 c.1243-40A>C r.(=) p.(=) g.42065016T>G Copied from the Exome Variant Server GLI3_000183 30/13006 27/8600 3/4406
1 c.1243-30T>C r.(=) p.(=) g.42065006A>G Copied from the Exome Variant Server GLI3_000182 3/13006 0/8600 3/4406
1 c.1250C>A r.(?) p.(Pro417His) g.42064969G>T Copied from the Exome Variant Server GLI3_000181 1/13006 0/8600 1/4406
1 c.1289T>C r.(?) p.(Met430Thr) g.42064930A>G Copied from the Exome Variant Server GLI3_000180 1/13006 0/8600 1/4406
1 c.1310T>C r.(?) p.(Ile437Thr) g.42064909A>G Copied from the Exome Variant Server GLI3_000179 2/13006 0/8600 2/4406
1 c.1317C>T r.(=) p.(=) g.42064902G>A Copied from the Exome Variant Server GLI3_000178 1/13006 0/8600 1/4406
1 c.1318G>A r.(?) p.(Asp440Asn) g.42064901C>T Copied from the Exome Variant Server GLI3_000177 1/13006 0/8600 1/4406
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