All transcript variants in gene NUP153

Information The variants shown are described using the NM_005124.2 transcript reference sequence.

268 entries on 3 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-22G>A r.(=) p.(=) g.17706640C>T Copied from the Exome Variant Server NUP153_000264 1/12912 1/8534 0/4378
?/? c.-16C>T r.(=) p.(=) g.17706634G>A Copied from the Exome Variant Server NUP153_000263 1/12902 1/8530 0/4372
?/? c.-4C>T r.(=) p.(=) g.17706622G>A Copied from the Exome Variant Server NUP153_000262 4/12990 4/8592 0/4398
?/? c.9G>C r.(=) p.(=) g.17706610C>G Copied from the Exome Variant Server NUP153_000261 1/12996 1/8594 0/4402
?/? c.14_22del r.(?) p.(Ala5_Gly7del) g.17706597_17706605del Copied from the Exome Variant Server NUP153_000260 2/12506 0/8250 2/4256
?/? c.31G>A r.(?) p.(Gly11Ser) g.17706588C>T Copied from the Exome Variant Server NUP153_000259 1/13000 1/8598 0/4402
?/? c.50G>A r.(?) p.(Arg17Gln) g.17706569C>T Copied from the Exome Variant Server NUP153_000258 1/13000 1/8598 0/4402
?/? c.54G>T r.(=) p.(=) g.17706565C>A Copied from the Exome Variant Server NUP153_000257 2/13000 0/8598 2/4402
?/? c.83C>T r.(?) p.(Pro28Leu) g.17706536G>A Copied from the Exome Variant Server NUP153_000256 1/13002 1/8598 0/4404
?/? c.95G>A r.(?) p.(Gly32Glu) g.17706524C>T Copied from the Exome Variant Server NUP153_000255 87/13002 79/8598 8/4404
?/? c.107A>G r.(?) p.(His36Arg) g.17706512T>C Copied from the Exome Variant Server NUP153_000254 2/13002 0/8598 2/4404
?/? c.111+3A>G r.spl? p.? g.17706505T>C Copied from the Exome Variant Server NUP153_000253 1/12998 0/8598 1/4400
?/? c.111+15C>T r.(=) p.(=) g.17706493G>A Copied from the Exome Variant Server NUP153_000252 1476/12998 1049/8598 427/4400
?/? c.111+18C>T r.(=) p.(=) g.17706490G>A Copied from the Exome Variant Server NUP153_000251 4/12998 4/8598 0/4400
?/? c.111+27del r.(=) p.(=) g.17706481del Copied from the Exome Variant Server NUP153_000250 53/12510 16/8252 37/4258
?/? c.111+38G>T r.(=) p.(=) g.17706470C>A Copied from the Exome Variant Server NUP153_000249 1/12998 0/8596 1/4402
?/? c.111+44_111+45del r.(=) p.(=) g.17706463_17706464del Copied from the Exome Variant Server NUP153_000247 3/12508 1/8250 2/4258
?/? c.122G>A r.(?) p.(Ser41Asn) g.17688839C>T Copied from the Exome Variant Server NUP153_000245 1/13006 0/8600 1/4406
?/? c.138T>G r.(=) p.(=) g.17688823A>C Copied from the Exome Variant Server NUP153_000243 1/13006 0/8600 1/4406
?/? c.158G>C r.(?) p.(Gly53Ala) g.17688803C>G Copied from the Exome Variant Server NUP153_000267 2/13006 0/8600 2/4406
?/? c.163C>T r.(=) p.(=) g.17688798G>A Copied from the Exome Variant Server NUP153_000266 3452/13006 3044/8600 408/4406
?/? c.208A>G r.(?) p.(Thr70Ala) g.17688753T>C Copied from the Exome Variant Server NUP153_000265 1/13006 0/8600 1/4406
?/? c.267C>T r.(=) p.(=) g.17688694G>A Copied from the Exome Variant Server NUP153_000238 5/13006 0/8600 5/4406
?/? c.268G>A r.(?) p.(Asp90Asn) g.17688693C>T Copied from the Exome Variant Server NUP153_000236 936/13006 785/8600 151/4406
?/? c.276G>C r.(?) p.(Glu92Asp) g.17688685C>G Copied from the Exome Variant Server NUP153_000234 1/13006 1/8600 0/4406
?/? c.278G>A r.(?) p.(Ser93Asn) g.17688683C>T Copied from the Exome Variant Server NUP153_000248 1/13006 1/8600 0/4406
?/? c.334+30A>G r.(=) p.(=) g.17688597T>C Copied from the Exome Variant Server NUP153_000246 81/13006 0/8600 81/4406
?/? c.334+38T>C r.(=) p.(=) g.17688589A>G Copied from the Exome Variant Server NUP153_000244 2/13004 2/8600 0/4404
?/? c.334+48C>G r.(=) p.(=) g.17688579G>C Copied from the Exome Variant Server NUP153_000242 1/13004 0/8600 1/4404
?/? c.335-46A>G r.(=) p.(=) g.17676047T>C Copied from the Exome Variant Server NUP153_000241 1/12964 1/8600 0/4364
?/? c.335-44C>T r.(=) p.(=) g.17676045G>A Copied from the Exome Variant Server NUP153_000240 2/12964 0/8600 2/4364
?/? c.335-31A>G r.(=) p.(=) g.17676032T>C Copied from the Exome Variant Server NUP153_000239 1/12982 0/8600 1/4382
?/? c.338C>G r.(?) p.(Pro113Arg) g.17675998G>C Copied from the Exome Variant Server NUP153_000237 1/13006 0/8600 1/4406
?/? c.342A>G r.(=) p.(=) g.17675994T>C Copied from the Exome Variant Server NUP153_000235 9/13006 0/8600 9/4406
?/? c.356C>T r.(?) p.(Ala119Val) g.17675980G>A Copied from the Exome Variant Server NUP153_000233 2/13006 2/8600 0/4406
?/? c.361A>G r.(?) p.(Asn121Asp) g.17675975T>C Copied from the Exome Variant Server NUP153_000232 2/13006 2/8600 0/4406
?/? c.404A>G r.(?) p.(His135Arg) g.17675932T>C Copied from the Exome Variant Server NUP153_000231 1/13006 0/8600 1/4406
?/? c.462G>A r.(=) p.(=) g.17675874C>T Copied from the Exome Variant Server NUP153_000230 3/13006 0/8600 3/4406
?/? c.479G>C r.(?) p.(Ser160Thr) g.17675857C>G Copied from the Exome Variant Server NUP153_000229 1/13006 0/8600 1/4406
?/? c.484G>C r.(?) p.(Gly162Arg) g.17675852C>G Copied from the Exome Variant Server NUP153_000228 1/13006 0/8600 1/4406
?/? c.528T>G r.(?) p.(His176Gln) g.17675808A>C Copied from the Exome Variant Server NUP153_000227 1/13006 1/8600 0/4406
?/? c.578A>G r.(?) p.(Asp193Gly) g.17675758T>C Copied from the Exome Variant Server NUP153_000226 1/13006 1/8600 0/4406
?/? c.584-47G>T r.(=) p.(=) g.17675646C>A Copied from the Exome Variant Server NUP153_000225 3/13006 3/8600 0/4406
?/? c.630A>G r.(=) p.(=) g.17675553T>C Copied from the Exome Variant Server NUP153_000224 308/13006 227/8600 81/4406
?/? c.665C>A r.(?) p.(Thr222Asn) g.17675518G>T Copied from the Exome Variant Server NUP153_000223 1/13006 0/8600 1/4406
?/? c.685C>A r.(?) p.(Pro229Thr) g.17675498G>T Copied from the Exome Variant Server NUP153_000222 8/13006 7/8600 1/4406
?/? c.720C>G r.(=) p.(=) g.17675463G>C Copied from the Exome Variant Server NUP153_000221 1/13006 1/8600 0/4406
?/? c.742A>G r.(?) p.(Ile248Val) g.17675246T>C Copied from the Exome Variant Server NUP153_000220 2787/13006 2527/8600 260/4406
?/? c.746T>G r.(?) p.(Leu249Arg) g.17675242A>C Copied from the Exome Variant Server NUP153_000219 1/13006 0/8600 1/4406
?/? c.772C>A r.(?) p.(Pro258Thr) g.17675216G>T Copied from the Exome Variant Server NUP153_000218 1/13006 1/8600 0/4406
?/? c.842C>T r.(?) p.(Thr281Ile) g.17675146G>A Copied from the Exome Variant Server NUP153_000217 1/13006 0/8600 1/4406
?/? c.848A>G r.(?) p.(Tyr283Cys) g.17675140T>C Copied from the Exome Variant Server NUP153_000216 1/13006 0/8600 1/4406
?/? c.852+18G>T r.(=) p.(=) g.17675118C>A Copied from the Exome Variant Server NUP153_000215 1/13006 0/8600 1/4406
?/? c.852+36del r.(=) p.(=) g.17675100del Copied from the Exome Variant Server NUP153_000214 20/12518 9/8254 11/4264
?/? c.852+36dup r.(=) p.(=) g.17675100dup Copied from the Exome Variant Server NUP153_000213 12/12518 7/8254 5/4264
?/? c.852+36_852+37del r.(=) p.(=) g.17675099_17675100del Copied from the Exome Variant Server NUP153_000212 6/12518 4/8254 2/4264
?/? c.853-50T>C r.(=) p.(=) g.17669827A>G Copied from the Exome Variant Server NUP153_000211 1/13002 1/8598 0/4404
?/? c.853-18A>G r.(=) p.(=) g.17669795T>C Copied from the Exome Variant Server NUP153_000210 5/13004 0/8600 5/4404
?/? c.853-17T>G r.(=) p.(=) g.17669794A>C Copied from the Exome Variant Server NUP153_000209 4/13004 0/8600 4/4404
?/? c.888C>T r.(=) p.(=) g.17669742G>A Copied from the Exome Variant Server NUP153_000208 1/13006 1/8600 0/4406
?/? c.894A>C r.(=) p.(=) g.17669736T>G Copied from the Exome Variant Server NUP153_000207 1/13006 1/8600 0/4406
?/? c.897A>G r.(=) p.(=) g.17669733T>C Copied from the Exome Variant Server NUP153_000206 240/13006 217/8600 23/4406
?/? c.903C>T r.(=) p.(=) g.17669727G>A Copied from the Exome Variant Server NUP153_000205 15/13006 0/8600 15/4406
?/? c.904G>A r.(?) p.(Gly302Ser) g.17669726C>T Copied from the Exome Variant Server NUP153_000203 1/13006 0/8600 1/4406
?/? c.919A>G r.(?) p.(Thr307Ala) g.17669711T>C Copied from the Exome Variant Server NUP153_000201 1/13006 1/8600 0/4406
?/? c.921A>C r.(=) p.(=) g.17669709T>G Copied from the Exome Variant Server NUP153_000199 1/13006 0/8600 1/4406
?/? c.969+19G>A r.(=) p.(=) g.17669642C>T Copied from the Exome Variant Server NUP153_000197 4/13006 0/8600 4/4406
?/? c.1013C>G r.(?) p.(Ser338Cys) g.17669525G>C Copied from the Exome Variant Server NUP153_000195 1/12998 0/8594 1/4404
?/? c.1014+19C>T r.(=) p.(=) g.17669505G>A Copied from the Exome Variant Server NUP153_000193 1/12996 0/8594 1/4402
?/? c.1014+50A>T r.(=) p.(=) g.17669474T>A Copied from the Exome Variant Server NUP153_000191 779/12974 679/8590 100/4384
?/? c.1015-55del r.(=) p.(=) g.17669314del Copied from the Exome Variant Server NUP153_000189 2013/11906 1282/7970 731/3936
?/? c.1015-55dup r.(=) p.(=) g.17669314dup Copied from the Exome Variant Server NUP153_000188 1724/11906 1281/7970 443/3936
?/? c.1015-55_1015-54del r.(=) p.(=) g.17669313_17669314del Copied from the Exome Variant Server NUP153_000184 275/11906 186/7970 89/3936
?/? c.1015-55_1015-54dup r.(=) p.(=) g.17669313_17669314dup Copied from the Exome Variant Server NUP153_000186 227/11906 162/7970 65/3936
?/? c.1015-12T>G r.(=) p.(=) g.17669271A>C Copied from the Exome Variant Server NUP153_000182 1/12962 0/8572 1/4390
?/? c.1051C>G r.(?) p.(Gln351Glu) g.17669223G>C Copied from the Exome Variant Server NUP153_000204 1/12996 0/8594 1/4402
?/? c.1068+10C>T r.(=) p.(=) g.17669196G>A Copied from the Exome Variant Server NUP153_000202 3/13004 0/8600 3/4404
?/? c.1068+26T>C r.(=) p.(=) g.17669180A>G Copied from the Exome Variant Server NUP153_000200 2/12998 0/8594 2/4404
?/? c.1072G>T r.(?) p.(Asp358Tyr) g.17665613C>A Copied from the Exome Variant Server NUP153_000198 2/13006 0/8600 2/4406
?/? c.1080A>G r.(=) p.(=) g.17665605T>C Copied from the Exome Variant Server NUP153_000196 9/13006 2/8600 7/4406
?/? c.1129A>G r.(?) p.(Thr377Ala) g.17665556T>C Copied from the Exome Variant Server NUP153_000194 1/13006 1/8600 0/4406
?/? c.1195A>C r.(=) p.(=) g.17665490T>G Copied from the Exome Variant Server NUP153_000192 1/13006 1/8600 0/4406
?/? c.1206C>G r.(?) p.(Asn402Lys) g.17665479G>C Copied from the Exome Variant Server NUP153_000190 3631/13006 2447/8600 1184/4406
?/? c.1215+3G>C r.spl? p.? g.17665467C>G Copied from the Exome Variant Server NUP153_000187 2/13006 2/8600 0/4406
?/? c.1215+9A>G r.(=) p.(=) g.17665461T>C Copied from the Exome Variant Server NUP153_000185 2/13006 0/8600 2/4406
?/? c.1215+13A>G r.(=) p.(=) g.17665457T>C Copied from the Exome Variant Server NUP153_000183 16/13006 13/8600 3/4406
?/? c.1215+23C>T r.(=) p.(=) g.17665447G>A Copied from the Exome Variant Server NUP153_000181 3/13006 3/8600 0/4406
?/? c.1215+34T>C r.(=) p.(=) g.17665436A>G Copied from the Exome Variant Server NUP153_000180 1/13004 1/8598 0/4406
?/? c.1216-28C>T r.(=) p.(=) g.17662329G>A Copied from the Exome Variant Server NUP153_000179 30/13004 1/8598 29/4406
?/? c.1245A>G r.(=) p.(=) g.17662272T>C Copied from the Exome Variant Server NUP153_000178 1/13006 1/8600 0/4406
?/? c.1256A>C r.(?) p.(Glu419Ala) g.17662261T>G Copied from the Exome Variant Server NUP153_000177 4/13006 3/8600 1/4406
?/? c.1268+22C>T r.(=) p.(=) g.17662227G>A Copied from the Exome Variant Server NUP153_000176 1/13006 1/8600 0/4406
?/? c.1268+27C>T r.(=) p.(=) g.17662222G>A Copied from the Exome Variant Server NUP153_000175 3/13006 0/8600 3/4406
?/? c.1269-25T>C r.(=) p.(=) g.17662035A>G Copied from the Exome Variant Server NUP153_000174 3/13006 0/8600 3/4406
?/? c.1269-11T>C r.(=) p.(=) g.17662021A>G Copied from the Exome Variant Server NUP153_000173 5/13006 5/8600 0/4406
?/? c.1352G>A r.(?) p.(Arg451Gln) g.17661927C>T Copied from the Exome Variant Server NUP153_000171 1/13006 0/8600 1/4406
?/? c.1395+18T>C r.(=) p.(=) g.17661866A>G Copied from the Exome Variant Server NUP153_000169 3/13006 3/8600 0/4406
?/? c.1396-13T>C r.(=) p.(=) g.17649544A>G Copied from the Exome Variant Server NUP153_000268 1/13006 1/8600 0/4406
?/? c.1433C>T r.(?) p.(Pro478Leu) g.17649494G>A Copied from the Exome Variant Server NUP153_000166 78/13006 72/8600 6/4406
?/? c.1434G>A r.(=) p.(=) g.17649493C>T Copied from the Exome Variant Server NUP153_000164 3/13006 0/8600 3/4406
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