Unique variants in gene JAG1

Information The variants shown are described using the NM_000214.2 transcript reference sequence.

249 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.82G>C r.(?) p.(Val28Leu) g.10653654C>G Copied from the Exome Variant Server JAG1_000249 4/13004 0/8598 4/4406
1 c.162C>T r.(=) p.(=) g.10653574G>A Copied from the Exome Variant Server JAG1_000248 1/13006 0/8600 1/4406
1 c.171C>A r.(=) p.(=) g.10653565G>T Copied from the Exome Variant Server JAG1_000247 1/13006 1/8600 0/4406
1 c.192C>T r.(=) p.(=) g.10653544G>A Copied from the Exome Variant Server JAG1_000246 1/13002 1/8598 0/4404
1 c.248A>G r.(?) p.(Gln83Arg) g.10653488T>C Copied from the Exome Variant Server JAG1_000245 1/13004 0/8598 1/4406
1 c.255C>T r.(=) p.(=) g.10653481G>A Copied from the Exome Variant Server JAG1_000244 1/13004 0/8598 1/4406
1 c.267G>A r.(=) p.(=) g.10653469C>T Copied from the Exome Variant Server JAG1_000243 1028/13006 918/8600 110/4406
1 c.270G>T r.(=) p.(=) g.10653466C>A Copied from the Exome Variant Server JAG1_000242 311/13006 2/8600 309/4406
1 c.294C>T r.(=) p.(=) g.10653442G>A Copied from the Exome Variant Server JAG1_000241 194/13004 2/8600 192/4404
1 c.356G>T r.(?) p.(Arg119Leu) g.10653380C>A Copied from the Exome Variant Server JAG1_000240 1/13004 0/8598 1/4406
1 c.387+22A>T r.(=) p.(=) g.10653327T>A Copied from the Exome Variant Server JAG1_000239 6/12994 6/8592 0/4402
1 c.387+23G>A r.(=) p.(=) g.10653326C>T Copied from the Exome Variant Server JAG1_000238 2/12994 0/8592 2/4402
1 c.387+27G>T r.(=) p.(=) g.10653322C>A Copied from the Exome Variant Server JAG1_000237 31/12968 0/8570 31/4398
1 c.387+42C>T r.(=) p.(=) g.10653307G>A Copied from the Exome Variant Server JAG1_000236 1/12928 1/8554 0/4374
1 c.388-43C>T r.(=) p.(=) g.10644705G>A Copied from the Exome Variant Server JAG1_000235 698/13006 606/8600 92/4406
1 c.388-8del r.(=) p.(=) g.10644670del Copied from the Exome Variant Server JAG1_000234 1/12518 1/8254 0/4264
1 c.400T>C r.(=) p.(=) g.10644650A>G Copied from the Exome Variant Server JAG1_000233 1/13006 0/8600 1/4406
1 c.436G>A r.(?) p.(Val146Ile) g.10644614C>T Copied from the Exome Variant Server JAG1_000232 167/13006 4/8600 163/4406
1 c.439+9C>T r.(=) p.(=) g.10644602G>A Copied from the Exome Variant Server JAG1_000231 1/13006 1/8600 0/4406
1 c.439+10G>A r.(=) p.(=) g.10644601C>T Copied from the Exome Variant Server JAG1_000230 16/13006 0/8600 16/4406
1 c.439+45T>C r.(=) p.(=) g.10644566A>G Copied from the Exome Variant Server JAG1_000229 1/13006 1/8600 0/4406
1 c.439+71del r.(=) p.(=) g.10644540del Copied from the Exome Variant Server JAG1_000228 1/12518 1/8254 0/4264
1 c.440-15T>C r.(=) p.(=) g.10639385A>G Copied from the Exome Variant Server JAG1_000227 5515/13006 3467/8600 2048/4406
1 c.489C>T r.(=) p.(=) g.10639321G>A Copied from the Exome Variant Server JAG1_000226 1/13006 0/8600 1/4406
1 c.521C>T r.(?) p.(Thr174Met) g.10639289G>A Copied from the Exome Variant Server JAG1_000225 3/13006 3/8600 0/4406
1 c.552C>T r.(=) p.(=) g.10639258G>A Copied from the Exome Variant Server JAG1_000224 1/13006 1/8600 0/4406
1 c.588C>T r.(=) p.(=) g.10639222G>A Copied from the Exome Variant Server JAG1_000223 1352/13006 391/8600 961/4406
1 c.656C>T r.(?) p.(Thr219Ile) g.10639154G>A Copied from the Exome Variant Server JAG1_000222 1/13006 1/8600 0/4406
1 c.694+26C>T r.(=) p.(=) g.10639090G>A Copied from the Exome Variant Server JAG1_000221 1/13006 1/8600 0/4406
1 c.694+33C>A r.(=) p.(=) g.10639083G>T Copied from the Exome Variant Server JAG1_000220 1/13006 0/8600 1/4406
1 c.695-51C>T r.(=) p.(=) g.10637157G>A Copied from the Exome Variant Server JAG1_000219 1/13006 0/8600 1/4406
1 c.695-39C>G r.(=) p.(=) g.10637145G>C Copied from the Exome Variant Server JAG1_000218 1/13006 1/8600 0/4406
1 c.695-37G>A r.(=) p.(=) g.10637143C>T Copied from the Exome Variant Server JAG1_000217 1/13006 1/8600 0/4406
1 c.695-22C>T r.(=) p.(=) g.10637128G>A Copied from the Exome Variant Server JAG1_000216 1/13006 0/8600 1/4406
1 c.695-21G>A r.(=) p.(=) g.10637127C>T Copied from the Exome Variant Server JAG1_000215 1/13006 1/8600 0/4406
1 c.697A>G r.(?) p.(Ile233Val) g.10637104T>C Copied from the Exome Variant Server JAG1_000214 1/13006 1/8600 0/4406
1 c.744A>G r.(=) p.(=) g.10637057T>C Copied from the Exome Variant Server JAG1_000213 851/13006 608/8600 243/4406
1 c.755+45A>T r.(=) p.(=) g.10637001T>A Copied from the Exome Variant Server JAG1_000212 2/13006 0/8600 2/4406
1 c.755+51G>A r.(=) p.(=) g.10636995C>T Copied from the Exome Variant Server JAG1_000211 251/13006 212/8600 39/4406
1 c.765C>T r.(=) p.(=) g.10633237G>A Copied from the Exome Variant Server JAG1_000210 5523/13006 4010/8600 1513/4406
1 c.814G>A r.(?) p.(Val272Ile) g.10633188C>T Copied from the Exome Variant Server JAG1_000209 4/13006 0/8600 4/4406
1 c.819C>T r.(=) p.(=) g.10633183G>A Copied from the Exome Variant Server JAG1_000208 1/13006 1/8600 0/4406
1 c.867C>T r.(=) p.(=) g.10633135G>A Copied from the Exome Variant Server JAG1_000207 1/13006 1/8600 0/4406
1 c.886+19A>T r.(=) p.(=) g.10633097T>A Copied from the Exome Variant Server JAG1_000206 38/13006 36/8600 2/4406
1 c.887-36A>G r.(=) p.(=) g.10632934T>C Copied from the Exome Variant Server JAG1_000205 1/13006 0/8600 1/4406
1 c.887-32G>A r.(=) p.(=) g.10632930C>T Copied from the Exome Variant Server JAG1_000204 1/13006 1/8600 0/4406
1 c.894T>C r.(=) p.(=) g.10632891A>G Copied from the Exome Variant Server JAG1_000203 5/13006 4/8600 1/4406
1 c.909T>C r.(=) p.(=) g.10632876A>G Copied from the Exome Variant Server JAG1_000202 17/13006 16/8600 1/4406
1 c.915G>A r.(=) p.(=) g.10632870C>T Copied from the Exome Variant Server JAG1_000201 1/13006 0/8600 1/4406
1 c.924C>T r.(=) p.(=) g.10632861G>A Copied from the Exome Variant Server JAG1_000200 229/13006 197/8600 32/4406
1 c.931A>G r.(?) p.(Thr311Ala) g.10632854T>C Copied from the Exome Variant Server JAG1_000199 1/13006 0/8600 1/4406
1 c.1006+38T>C r.(=) p.(=) g.10632741A>G Copied from the Exome Variant Server JAG1_000198 1/13006 0/8600 1/4406
1 c.1007-16A>G r.(=) p.(=) g.10632358T>C Copied from the Exome Variant Server JAG1_000197 18/13006 0/8600 18/4406
1 c.1102G>A r.(?) p.(Gly368Ser) g.10632247C>T Copied from the Exome Variant Server JAG1_000196 1/13006 1/8600 0/4406
1 c.1120+10A>G r.(=) p.(=) g.10632219T>C Copied from the Exome Variant Server JAG1_000195 13/13006 0/8600 13/4406
1 c.1146C>T r.(=) p.(=) g.10630983G>A Copied from the Exome Variant Server JAG1_000194 2/13006 0/8600 2/4406
1 c.1153C>T r.(?) p.(His385Tyr) g.10630976G>A Copied from the Exome Variant Server JAG1_000193 1/13006 1/8600 0/4406
1 c.1182C>T r.(=) p.(=) g.10630947G>A Copied from the Exome Variant Server JAG1_000192 1/13006 1/8600 0/4406
1 c.1195G>A r.(?) p.(Val399Met) g.10630934C>T Copied from the Exome Variant Server JAG1_000191 1/13006 0/8600 1/4406
1 c.1205C>G r.(?) p.(Pro402Arg) g.10630924G>C Copied from the Exome Variant Server JAG1_000190 1/13006 1/8600 0/4406
1 c.1234+21_1234+22del r.(=) p.(=) g.10630873_10630874del Copied from the Exome Variant Server JAG1_000189 32/12518 20/8254 12/4264
1 c.1234+48_1234+51del r.(=) p.(=) g.10630844_10630847del Copied from the Exome Variant Server JAG1_000188 26/12514 20/8250 6/4264
1 c.1235-41G>A r.(=) p.(=) g.10630324C>T Copied from the Exome Variant Server JAG1_000187 2/13006 0/8600 2/4406
1 c.1272C>T r.(=) p.(=) g.10630246G>A Copied from the Exome Variant Server JAG1_000186 1/13006 0/8600 1/4406
1 c.1348+3G>A r.spl? p.? g.10630167C>T Copied from the Exome Variant Server JAG1_000185 1/13006 0/8600 1/4406
1 c.1349-11T>G r.(=) p.(=) g.10629766A>C Copied from the Exome Variant Server JAG1_000184 3/13002 3/8598 0/4404
1 c.1349-3_1349-2insT r.spl? p.? g.10629757_10629758insA Copied from the Exome Variant Server JAG1_000183 2/12516 0/8252 2/4264
1 c.1355A>G r.(?) p.(Asn452Ser) g.10629749T>C Copied from the Exome Variant Server JAG1_000182 1/13006 1/8600 0/4406
1 c.1365T>G r.(=) p.(=) g.10629739A>C Copied from the Exome Variant Server JAG1_000181 1/13006 0/8600 1/4406
1 c.1383C>T r.(=) p.(=) g.10629721G>A Copied from the Exome Variant Server JAG1_000180 1/13006 0/8600 1/4406
1 c.1389C>T r.(=) p.(=) g.10629715G>A Copied from the Exome Variant Server JAG1_000179 7/13006 7/8600 0/4406
1 c.1395+36A>G r.(=) p.(=) g.10629673T>C Copied from the Exome Variant Server JAG1_000178 3/13006 2/8600 1/4406
1 c.1395+62C>T r.(=) p.(=) g.10629647G>A Copied from the Exome Variant Server JAG1_000177 3/4566 2/3182 1/1384
1 c.1396-32A>G r.(=) p.(=) g.10629402T>C Copied from the Exome Variant Server JAG1_000176 1/13006 1/8600 0/4406
1 c.1396-22C>T r.(=) p.(=) g.10629392G>A Copied from the Exome Variant Server JAG1_000175 2/13006 0/8600 2/4406
1 c.1396-18_1396-17insTC r.(=) p.(=) g.10629387_10629388insGA Copied from the Exome Variant Server JAG1_000174 13/12518 2/8254 11/4264
1 c.1396-16C>T r.(=) p.(=) g.10629386G>A Copied from the Exome Variant Server JAG1_000173 1/13006 1/8600 0/4406
1 c.1407T>C r.(=) p.(=) g.10629359A>G Copied from the Exome Variant Server JAG1_000172 1/13006 0/8600 1/4406
1 c.1427C>T r.(?) p.(Pro476Leu) g.10629339G>A Copied from the Exome Variant Server JAG1_000171 1/13006 1/8600 0/4406
1 c.1433G>C r.(?) p.(Gly478Ala) g.10629333C>G Copied from the Exome Variant Server JAG1_000170 1/13006 1/8600 0/4406
1 c.1438G>T r.(?) p.(Ala480Ser) g.10629328C>A Copied from the Exome Variant Server JAG1_000169 1/13006 0/8600 1/4406
1 c.1439C>T r.(?) p.(Ala480Val) g.10629327G>A Copied from the Exome Variant Server JAG1_000168 1/13006 1/8600 0/4406
1 c.1464C>T r.(=) p.(=) g.10629302G>A Copied from the Exome Variant Server JAG1_000167 1/13006 1/8600 0/4406
1 c.1465G>A r.(?) p.(Asp489Asn) g.10629301C>T Copied from the Exome Variant Server JAG1_000166 1/13006 1/8600 0/4406
1 c.1536G>A r.(=) p.(=) g.10629230C>T Copied from the Exome Variant Server JAG1_000165 1/13006 1/8600 0/4406
1 c.1569+36_1569+37insT r.(=) p.(=) g.10629160_10629161insA Copied from the Exome Variant Server JAG1_000164 1/12518 1/8254 0/4264
1 c.1569+47C>T r.(=) p.(=) g.10629150G>A Copied from the Exome Variant Server JAG1_000163 5/13006 0/8600 5/4406
1 c.1570-40T>G r.(=) p.(=) g.10628798A>C Copied from the Exome Variant Server JAG1_000162 1/13006 0/8600 1/4406
1 c.1570-34C>A r.(=) p.(=) g.10628792G>T Copied from the Exome Variant Server JAG1_000161 1/13006 1/8600 0/4406
1 c.1570-30C>T r.(=) p.(=) g.10628788G>A Copied from the Exome Variant Server JAG1_000160 1/13006 1/8600 0/4406
1 c.1570-28C>G r.(=) p.(=) g.10628786G>C Copied from the Exome Variant Server JAG1_000159 46/13006 0/8600 46/4406
1 c.1570-20G>A r.(=) p.(=) g.10628778C>T Copied from the Exome Variant Server JAG1_000158 1/13006 0/8600 1/4406
1 c.1578C>T r.(=) p.(=) g.10628750G>A Copied from the Exome Variant Server JAG1_000157 20/13006 19/8600 1/4406
1 c.1608C>T r.(=) p.(=) g.10628720G>A Copied from the Exome Variant Server JAG1_000156 2/13006 1/8600 1/4406
1 c.1627C>T r.(?) p.(Arg543Cys) g.10628701G>A Copied from the Exome Variant Server JAG1_000155 1/13006 1/8600 0/4406
1 c.1656C>T r.(=) p.(=) g.10628672G>A Copied from the Exome Variant Server JAG1_000154 1/13006 0/8600 1/4406
1 c.1704C>T r.(=) p.(=) g.10628624G>A Copied from the Exome Variant Server JAG1_000153 1/13006 0/8600 1/4406
1 c.1706C>T r.(?) p.(Thr569Met) g.10628622G>A Copied from the Exome Variant Server JAG1_000152 1/13006 0/8600 1/4406
1 c.1720+16C>T r.(=) p.(=) g.10628592G>A Copied from the Exome Variant Server JAG1_000151 1/13006 0/8600 1/4406
1 c.1720+16_1720+17insC r.(=) p.(=) g.10628591_10628592insG Copied from the Exome Variant Server JAG1_000150 2/12518 0/8254 2/4264
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