All transcript variants in gene NUP210

Information The variants shown are described using the NM_024923.2 transcript reference sequence.

441 entries on 5 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.62C>G r.(?) p.(Pro21Arg) g.13461665G>C Copied from the Exome Variant Server NUP210_000432 2/12590 1/8362 1/4228
?/? c.81G>C r.(?) p.(Lys27Asn) g.13461646C>G Copied from the Exome Variant Server NUP210_000431 1/12878 1/8532 0/4346
?/? c.121A>G r.(?) p.(Thr41Ala) g.13461606T>C Copied from the Exome Variant Server NUP210_000430 1/12864 0/8512 1/4352
?/? c.141G>A r.(=) p.(=) g.13461586C>T Copied from the Exome Variant Server NUP210_000429 1/12824 1/8502 0/4322
?/? c.162C>A r.(?) p.(Tyr54*) g.13461565G>T Copied from the Exome Variant Server NUP210_000428 1/12606 1/8368 0/4238
?/? c.168-48C>T r.(=) p.(=) g.13441409G>A Copied from the Exome Variant Server NUP210_000427 1/12918 1/8550 0/4368
?/? c.168-12C>T r.(=) p.(=) g.13441373G>A Copied from the Exome Variant Server NUP210_000426 1/12992 1/8588 0/4404
?/? c.168-11_168-9del r.(=) p.(=) g.13441370_13441372del Copied from the Exome Variant Server NUP210_000425 1/12502 0/8242 1/4260
?/? c.183G>A r.(=) p.(=) g.13441346C>T Copied from the Exome Variant Server NUP210_000424 1/13006 0/8600 1/4406
?/? c.199G>A r.(?) p.(Glu67Lys) g.13441330C>T Copied from the Exome Variant Server NUP210_000423 1/13006 1/8600 0/4406
?/? c.204G>A r.(=) p.(=) g.13441325C>T Copied from the Exome Variant Server NUP210_000422 2/13004 2/8598 0/4406
?/? c.217G>A r.(?) p.(Glu73Lys) g.13441312C>T Copied from the Exome Variant Server NUP210_000421 1/13006 1/8600 0/4406
?/? c.268G>A r.(?) p.(Ala90Thr) g.13441261C>T Copied from the Exome Variant Server NUP210_000420 1/13006 1/8600 0/4406
?/? c.291C>T r.(=) p.(=) g.13441238G>A Copied from the Exome Variant Server NUP210_000419 1/13006 1/8600 0/4406
?/? c.304+10G>T r.(=) p.(=) g.13441215C>A Copied from the Exome Variant Server NUP210_000418 1/13006 0/8600 1/4406
?/? c.304+13T>G r.(=) p.(=) g.13441212A>C Copied from the Exome Variant Server NUP210_000417 1/13006 1/8600 0/4406
?/? c.304+30G>C r.(=) p.(=) g.13441195C>G Copied from the Exome Variant Server NUP210_000416 1/13006 1/8600 0/4406
?/? c.304+33G>A r.(=) p.(=) g.13441192C>T Copied from the Exome Variant Server NUP210_000415 2/13006 0/8600 2/4406
?/? c.305-44C>T r.(=) p.(=) g.13439032G>A Copied from the Exome Variant Server NUP210_000414 1/13006 1/8600 0/4406
?/? c.305-43G>A r.(=) p.(=) g.13439031C>T Copied from the Exome Variant Server NUP210_000413 10/13006 10/8600 0/4406
?/? c.305-17T>C r.(=) p.(=) g.13439005A>G Copied from the Exome Variant Server NUP210_000412 3415/13006 1199/8600 2216/4406
?/? c.314A>G r.(?) p.(Gln105Arg) g.13438979T>C Copied from the Exome Variant Server NUP210_000411 6/13006 6/8600 0/4406
?/? c.316G>A r.(?) p.(Val106Ile) g.13438977C>T Copied from the Exome Variant Server NUP210_000410 1/13006 1/8600 0/4406
?/? c.330T>A r.(?) p.(Asp110Glu) g.13438963A>T Copied from the Exome Variant Server NUP210_000409 1/13006 1/8600 0/4406
?/? c.369C>T r.(=) p.(=) g.13438924G>A Copied from the Exome Variant Server NUP210_000408 1/13006 1/8600 0/4406
?/? c.400C>G r.(?) p.(Pro134Ala) g.13438893G>C Copied from the Exome Variant Server NUP210_000407 1/13006 1/8600 0/4406
?/? c.402C>G r.(=) p.(=) g.13438891G>C Copied from the Exome Variant Server NUP210_000405 1/13006 0/8600 1/4406
?/? c.403_404insC r.(?) p.(Leu135Profs*116) g.13438889_13438890insG Copied from the Exome Variant Server NUP210_000404 1/12520 1/8254 0/4266
?/? c.410T>C r.(?) p.(Leu137Pro) g.13438883A>G Copied from the Exome Variant Server NUP210_000402 1/13006 0/8600 1/4406
?/? c.418C>T r.(?) p.(Gln140*) g.13438875G>A Copied from the Exome Variant Server NUP210_000399 1/13006 0/8600 1/4406
?/? c.432C>T r.(=) p.(=) g.13438861G>A Copied from the Exome Variant Server NUP210_000397 1/13006 0/8600 1/4406
?/? c.436+8C>T r.(=) p.(=) g.13438849G>A Copied from the Exome Variant Server NUP210_000395 1/13006 1/8600 0/4406
?/? c.436+27T>C r.(=) p.(=) g.13438830A>G Copied from the Exome Variant Server NUP210_000393 8246/13006 4818/8600 3428/4406
?/? c.436+36C>G r.(=) p.(=) g.13438821G>C Copied from the Exome Variant Server NUP210_000391 1/13006 1/8600 0/4406
?/? c.436+50C>T r.(=) p.(=) g.13438807G>A Copied from the Exome Variant Server NUP210_000433 2/13006 0/8600 2/4406
?/? c.437-42A>G r.(=) p.(=) g.13432849T>C Copied from the Exome Variant Server NUP210_000389 2/12988 2/8586 0/4402
?/? c.437-37C>T r.(=) p.(=) g.13432844G>A Copied from the Exome Variant Server NUP210_000387 4/13000 4/8594 0/4406
?/? c.437-12C>A r.(=) p.(=) g.13432819G>T Copied from the Exome Variant Server NUP210_000385 1/13006 0/8600 1/4406
?/? c.437-3T>C r.spl? p.? g.13432810A>G Copied from the Exome Variant Server NUP210_000383 19/13006 0/8600 19/4406
?/? c.471C>T r.(=) p.(=) g.13432773G>A Copied from the Exome Variant Server NUP210_000381 1/13006 1/8600 0/4406
?/? c.480_504del r.(?) p.(Ile161Glyfs*43) g.13432740_13432764del Copied from the Exome Variant Server NUP210_000379 3/12520 3/8254 0/4266
?/? c.506G>C r.(?) p.(Arg169Thr) g.13432738C>G Copied from the Exome Variant Server NUP210_000406 1/13006 1/8600 0/4406
?/? c.524A>G r.(?) p.(Asn175Ser) g.13432720T>C Copied from the Exome Variant Server NUP210_000403 1/13006 1/8600 0/4406
?/? c.533G>A r.(?) p.(Arg178Gln) g.13432711C>T Copied from the Exome Variant Server NUP210_000401 1/13006 0/8600 1/4406
?/? c.533+17C>T r.(=) p.(=) g.13432694G>A Copied from the Exome Variant Server NUP210_000400 2/13006 2/8600 0/4406
?/? c.533+29C>T r.(=) p.(=) g.13432682G>A Copied from the Exome Variant Server NUP210_000398 14/13006 0/8600 14/4406
?/? c.533+32T>C r.(=) p.(=) g.13432679A>G Copied from the Exome Variant Server NUP210_000396 3/13006 2/8600 1/4406
?/? c.534-48T>G r.(=) p.(=) g.13430001A>C Copied from the Exome Variant Server NUP210_000394 6/13004 0/8600 6/4404
?/? c.562A>C r.(?) p.(Ile188Leu) g.13429925T>G Copied from the Exome Variant Server NUP210_000392 1/13006 1/8600 0/4406
?/? c.640G>A r.(?) p.(Gly214Arg) g.13429847C>T Copied from the Exome Variant Server NUP210_000390 1/13006 1/8600 0/4406
?/? c.642G>A r.(=) p.(=) g.13429845C>T Copied from the Exome Variant Server NUP210_000388 84/13006 0/8600 84/4406
?/? c.684+7C>T r.(=) p.(=) g.13429796G>A Copied from the Exome Variant Server NUP210_000386 1/13006 0/8600 1/4406
?/? c.684+10G>A r.(=) p.(=) g.13429793C>T Copied from the Exome Variant Server NUP210_000384 1/13006 1/8600 0/4406
?/? c.684+12G>A r.(=) p.(=) g.13429791C>T Copied from the Exome Variant Server NUP210_000382 1/13006 0/8600 1/4406
?/? c.684+14G>T r.(=) p.(=) g.13429789C>A Copied from the Exome Variant Server NUP210_000380 3/13006 0/8600 3/4406
?/? c.684+32T>G r.(=) p.(=) g.13429771A>C Copied from the Exome Variant Server NUP210_000378 1/13006 0/8600 1/4406
?/? c.684+49G>A r.(=) p.(=) g.13429754C>T Copied from the Exome Variant Server NUP210_000377 1/13006 1/8600 0/4406
?/? c.685-43C>G r.(=) p.(=) g.13427950G>C Copied from the Exome Variant Server NUP210_000376 2/13006 2/8600 0/4406
?/? c.685-36C>T r.(=) p.(=) g.13427943G>A Copied from the Exome Variant Server NUP210_000375 1/13006 0/8600 1/4406
?/? c.685-35G>A r.(=) p.(=) g.13427942C>T Copied from the Exome Variant Server NUP210_000441 1/13006 1/8600 0/4406
?/? c.685-34C>T r.(=) p.(=) g.13427941G>A Copied from the Exome Variant Server NUP210_000372 203/13006 2/8600 201/4406
?/? c.685-19G>A r.(=) p.(=) g.13427926C>T Copied from the Exome Variant Server NUP210_000370 69/13006 0/8600 69/4406
?/? c.728T>C r.(?) p.(Ile243Thr) g.13427864A>G Copied from the Exome Variant Server NUP210_000368 1/13006 1/8600 0/4406
?/? c.763G>A r.(?) p.(Val255Met) g.13427829C>T Copied from the Exome Variant Server NUP210_000366 1/13006 1/8600 0/4406
?/? c.801G>A r.(=) p.(=) g.13427791C>T Copied from the Exome Variant Server NUP210_000440 1/13006 0/8600 1/4406
?/? c.869C>T r.(?) p.(Pro290Leu) g.13421170G>A Copied from the Exome Variant Server NUP210_000362 4/13006 0/8600 4/4406
?/? c.877G>A r.(?) p.(Glu293Lys) g.13421162C>T Copied from the Exome Variant Server NUP210_000374 2/13006 0/8600 2/4406
?/? c.889G>A r.(?) p.(Ala297Thr) g.13421150C>T Copied from the Exome Variant Server NUP210_000373 8010/13006 4672/8600 3338/4406
?/? c.896C>T r.(?) p.(Pro299Leu) g.13421143G>A Copied from the Exome Variant Server NUP210_000371 2/13006 1/8600 1/4406
?/? c.923C>T r.(?) p.(Ser308Leu) g.13421116G>A Copied from the Exome Variant Server NUP210_000369 3/13006 2/8600 1/4406
?/? c.924G>A r.(=) p.(=) g.13421115C>T Copied from the Exome Variant Server NUP210_000367 1/13006 1/8600 0/4406
?/? c.943C>G r.(?) p.(Leu315Val) g.13421096G>C Copied from the Exome Variant Server NUP210_000365 1/13006 0/8600 1/4406
?/? c.960C>T r.(=) p.(=) g.13421079G>A Copied from the Exome Variant Server NUP210_000364 1/13006 1/8600 0/4406
?/? c.976+34A>G r.(=) p.(=) g.13421029T>C Copied from the Exome Variant Server NUP210_000363 3/13006 0/8600 3/4406
?/? c.976+39G>A r.(=) p.(=) g.13421024C>T Copied from the Exome Variant Server NUP210_000361 1196/13006 1086/8600 110/4406
?/? c.976+52G>A r.(=) p.(=) g.13421011C>T Copied from the Exome Variant Server NUP210_000360 9/5734 7/3982 2/1752
?/? c.977-38T>G r.(=) p.(=) g.13420518A>C Copied from the Exome Variant Server NUP210_000359 1/13006 1/8600 0/4406
?/? c.977-29T>C r.(=) p.(=) g.13420509A>G Copied from the Exome Variant Server NUP210_000358 7/13006 0/8600 7/4406
?/? c.977G>A r.(?) p.(Ser326Asn) g.13420480C>T Copied from the Exome Variant Server NUP210_000357 1/13006 0/8600 1/4406
?/? c.1024G>A r.(?) p.(Val342Met) g.13420433C>T Copied from the Exome Variant Server NUP210_000356 1/13006 0/8600 1/4406
?/? c.1045+5G>C r.spl? p.? g.13420407C>G Copied from the Exome Variant Server NUP210_000355 1/13006 0/8600 1/4406
?/? c.1045+29G>T r.(=) p.(=) g.13420383C>A Copied from the Exome Variant Server NUP210_000354 152/13006 143/8600 9/4406
?/? c.1046-23C>T r.(=) p.(=) g.13419085G>A Copied from the Exome Variant Server NUP210_000353 49/13006 0/8600 49/4406
?/? c.1046-15C>G r.(=) p.(=) g.13419077G>C Copied from the Exome Variant Server NUP210_000352 1/13006 1/8600 0/4406
?/? c.1086C>T r.(=) p.(=) g.13419022G>A Copied from the Exome Variant Server NUP210_000351 39/13006 0/8600 39/4406
?/? c.1090C>T r.(?) p.(Arg364Cys) g.13419018G>A Copied from the Exome Variant Server NUP210_000350 2/13006 1/8600 1/4406
?/? c.1095G>A r.(=) p.(=) g.13419013C>T Copied from the Exome Variant Server NUP210_000349 1/13006 0/8600 1/4406
?/? c.1108A>G r.(?) p.(Ile370Val) g.13419000T>C Copied from the Exome Variant Server NUP210_000348 1/13006 0/8600 1/4406
?/? c.1110C>T r.(=) p.(=) g.13418998G>A Copied from the Exome Variant Server NUP210_000347 49/13006 0/8600 49/4406
?/? c.1116T>A r.(=) p.(=) g.13418992A>T Copied from the Exome Variant Server NUP210_000346 11/13006 10/8600 1/4406
?/? c.1142A>G r.(?) p.(Tyr381Cys) g.13418966T>C Copied from the Exome Variant Server NUP210_000345 1/13006 1/8600 0/4406
?/? c.1143T>C r.(=) p.(=) g.13418965A>G Copied from the Exome Variant Server NUP210_000344 4/13006 4/8600 0/4406
?/? c.1152+9C>G r.(=) p.(=) g.13418947G>C Copied from the Exome Variant Server NUP210_000343 34/13006 32/8600 2/4406
?/? c.1152+17G>T r.(=) p.(=) g.13418939C>A Copied from the Exome Variant Server NUP210_000342 1/13006 1/8600 0/4406
?/? c.1152+27G>C r.(=) p.(=) g.13418929C>G Copied from the Exome Variant Server NUP210_000341 1/13006 1/8600 0/4406
?/? c.1152+36G>A r.(=) p.(=) g.13418920C>T Copied from the Exome Variant Server NUP210_000340 1/13006 1/8600 0/4406
?/? c.1152+39G>T r.(=) p.(=) g.13418917C>A Copied from the Exome Variant Server NUP210_000339 1/13006 0/8600 1/4406
?/? c.1152+50C>A r.(=) p.(=) g.13418906G>T Copied from the Exome Variant Server NUP210_000338 1/13006 1/8600 0/4406
?/? c.1160G>A r.(?) p.(Arg387Gln) g.13417924C>T Copied from the Exome Variant Server NUP210_000337 1/13006 0/8600 1/4406
?/? c.1246_1247del r.(?) p.(Arg416Glyfs*6) g.13417837_13417838del Copied from the Exome Variant Server NUP210_000336 58/12520 38/8254 20/4266
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