All transcript variants in gene GOLGA3

Information The variants shown are described using the NM_005895.3 transcript reference sequence.

390 entries on 4 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.-43C>T r.(=) p.(=) g.133398757G>A Copied from the Exome Variant Server GOLGA3_000390 1/13004 0/8600 1/4404
?/? c.-42T>C r.(=) p.(=) g.133398756A>G Copied from the Exome Variant Server GOLGA3_000389 301/13004 2/8600 299/4404
?/? c.-38A>C r.(=) p.(=) g.133398752T>G Copied from the Exome Variant Server GOLGA3_000388 1/13006 0/8600 1/4406
?/? c.-35C>T r.(=) p.(=) g.133398749G>A Copied from the Exome Variant Server GOLGA3_000387 1/13006 1/8600 0/4406
?/? c.-8T>C r.(=) p.(=) g.133398722A>G Copied from the Exome Variant Server GOLGA3_000386 2/13002 0/8596 2/4406
?/? c.9C>T r.(=) p.(=) g.133398706G>A Copied from the Exome Variant Server GOLGA3_000385 1/13006 0/8600 1/4406
?/? c.14C>T r.(?) p.(Ser5Leu) g.133398701G>A Copied from the Exome Variant Server GOLGA3_000384 1/13006 1/8600 0/4406
?/? c.15G>A r.(=) p.(=) g.133398700C>T Copied from the Exome Variant Server GOLGA3_000383 5/13006 0/8600 5/4406
?/? c.19G>A r.(?) p.(Glu7Lys) g.133398696C>T Copied from the Exome Variant Server GOLGA3_000382 2/13006 1/8600 1/4406
?/? c.63G>A r.(=) p.(=) g.133398652C>T Copied from the Exome Variant Server GOLGA3_000381 1/13006 1/8600 0/4406
?/? c.72C>T r.(=) p.(=) g.133398643G>A Copied from the Exome Variant Server GOLGA3_000380 4/13006 4/8600 0/4406
?/? c.76G>A r.(?) p.(Ala26Thr) g.133398639C>T Copied from the Exome Variant Server GOLGA3_000379 1/13006 1/8600 0/4406
?/? c.77C>T r.(?) p.(Ala26Val) g.133398638G>A Copied from the Exome Variant Server GOLGA3_000378 29/13006 1/8600 28/4406
?/? c.79C>T r.(?) p.(Pro27Ser) g.133398636G>A Copied from the Exome Variant Server GOLGA3_000377 1/13006 1/8600 0/4406
?/? c.91C>G r.(?) p.(Pro31Ala) g.133398624G>C Copied from the Exome Variant Server GOLGA3_000376 1/13004 1/8598 0/4406
?/? c.132G>T r.(?) p.(Gln44His) g.133398583C>A Copied from the Exome Variant Server GOLGA3_000375 1/13006 0/8600 1/4406
?/? c.133+7C>T r.(=) p.(=) g.133398575G>A Copied from the Exome Variant Server GOLGA3_000374 3/13006 3/8600 0/4406
?/? c.133+8G>A r.(=) p.(=) g.133398574C>T Copied from the Exome Variant Server GOLGA3_000373 7/13006 0/8600 7/4406
?/? c.133+19C>T r.(=) p.(=) g.133398563G>A Copied from the Exome Variant Server GOLGA3_000372 1/13006 1/8600 0/4406
?/? c.133+21G>T r.(=) p.(=) g.133398561C>A Copied from the Exome Variant Server GOLGA3_000371 1/13006 1/8600 0/4406
?/? c.133+26C>T r.(=) p.(=) g.133398556G>A Copied from the Exome Variant Server GOLGA3_000370 1/13006 1/8600 0/4406
?/? c.133+37A>G r.(=) p.(=) g.133398545T>C Copied from the Exome Variant Server GOLGA3_000369 1/13006 0/8600 1/4406
?/? c.133+42C>G r.(=) p.(=) g.133398540G>C Copied from the Exome Variant Server GOLGA3_000368 3/13006 0/8600 3/4406
?/? c.158C>T r.(?) p.(Thr53Met) g.133393374G>A Copied from the Exome Variant Server GOLGA3_000366 1/13006 1/8600 0/4406
?/? c.169A>G r.(?) p.(Ser57Gly) g.133393363T>C Copied from the Exome Variant Server GOLGA3_000364 1/13006 1/8600 0/4406
?/? c.173C>T r.(?) p.(Pro58Leu) g.133393359G>A Copied from the Exome Variant Server GOLGA3_000362 3/13006 2/8600 1/4406
?/? c.189G>A r.(=) p.(=) g.133393343C>T Copied from the Exome Variant Server GOLGA3_000360 1/13006 0/8600 1/4406
?/? c.209G>A r.(?) p.(Gly70Glu) g.133393323C>T Copied from the Exome Variant Server GOLGA3_000358 801/13006 737/8600 64/4406
?/? c.216G>T r.(=) p.(=) g.133393316C>A Copied from the Exome Variant Server GOLGA3_000356 1/13006 1/8600 0/4406
?/? c.236C>A r.(?) p.(Pro79Gln) g.133393296G>T Copied from the Exome Variant Server GOLGA3_000367 462/13006 3/8600 459/4406
?/? c.237G>A r.(=) p.(=) g.133393295C>T Copied from the Exome Variant Server GOLGA3_000365 28/13006 24/8600 4/4406
?/? c.246C>T r.(=) p.(=) g.133393286G>A Copied from the Exome Variant Server GOLGA3_000363 3/13006 0/8600 3/4406
?/? c.247G>A r.(?) p.(Asp83Asn) g.133393285C>T Copied from the Exome Variant Server GOLGA3_000361 1/13006 1/8600 0/4406
?/? c.254C>T r.(?) p.(Thr85Ile) g.133393278G>A Copied from the Exome Variant Server GOLGA3_000359 1/13006 0/8600 1/4406
?/? c.272C>G r.(?) p.(Pro91Arg) g.133393260G>C Copied from the Exome Variant Server GOLGA3_000357 1/13006 0/8600 1/4406
?/? c.406+15C>T r.(=) p.(=) g.133393111G>A Copied from the Exome Variant Server GOLGA3_000355 1/13006 1/8600 0/4406
?/? c.406+34C>T r.(=) p.(=) g.133393092G>A Copied from the Exome Variant Server GOLGA3_000354 1/13006 1/8600 0/4406
?/? c.406+36C>T r.(=) p.(=) g.133393090G>A Copied from the Exome Variant Server GOLGA3_000353 1/13006 0/8600 1/4406
?/? c.406+40C>T r.(=) p.(=) g.133393086G>A Copied from the Exome Variant Server GOLGA3_000352 667/13006 620/8600 47/4406
?/? c.406+41G>T r.(=) p.(=) g.133393085C>A Copied from the Exome Variant Server GOLGA3_000351 3/13006 3/8600 0/4406
?/? c.406+45C>T r.(=) p.(=) g.133393081G>A Copied from the Exome Variant Server GOLGA3_000350 53/13006 2/8600 51/4406
?/? c.406+46G>A r.(=) p.(=) g.133393080C>T Copied from the Exome Variant Server GOLGA3_000349 1/13006 0/8600 1/4406
?/? c.406+47C>T r.(=) p.(=) g.133393079G>A Copied from the Exome Variant Server GOLGA3_000348 1/13006 1/8600 0/4406
?/? c.406+49C>T r.(=) p.(=) g.133393077G>A Copied from the Exome Variant Server GOLGA3_000347 1/13006 0/8600 1/4406
?/? c.407-40G>A r.(=) p.(=) g.133390045C>T Copied from the Exome Variant Server GOLGA3_000346 3/13006 3/8600 0/4406
?/? c.407-3C>T r.spl? p.? g.133390008G>A Copied from the Exome Variant Server GOLGA3_000345 11/13006 0/8600 11/4406
?/? c.414A>G r.(=) p.(=) g.133389998T>C Copied from the Exome Variant Server GOLGA3_000344 1566/13006 1437/8600 129/4406
?/? c.426G>A r.(=) p.(=) g.133389986C>T Copied from the Exome Variant Server GOLGA3_000343 4/13006 3/8600 1/4406
?/? c.464G>A r.(?) p.(Arg155Gln) g.133389948C>T Copied from the Exome Variant Server GOLGA3_000342 1/13006 1/8600 0/4406
?/? c.499G>T r.(?) p.(Val167Leu) g.133389913C>A Copied from the Exome Variant Server GOLGA3_000341 3/13006 3/8600 0/4406
?/? c.519+27C>T r.(=) p.(=) g.133389866G>A Copied from the Exome Variant Server GOLGA3_000340 1/13006 1/8600 0/4406
?/? c.520-14T>C r.(=) p.(=) g.133385149A>G Copied from the Exome Variant Server GOLGA3_000339 1/13006 0/8600 1/4406
?/? c.557C>T r.(?) p.(Thr186Met) g.133385098G>A Copied from the Exome Variant Server GOLGA3_000338 1/13006 1/8600 0/4406
?/? c.558G>A r.(=) p.(=) g.133385097C>T Copied from the Exome Variant Server GOLGA3_000337 1/13006 0/8600 1/4406
?/? c.603C>T r.(=) p.(=) g.133385052G>A Copied from the Exome Variant Server GOLGA3_000336 7/13006 0/8600 7/4406
?/? c.641G>A r.(?) p.(Arg214His) g.133385014C>T Copied from the Exome Variant Server GOLGA3_000335 1/13006 1/8600 0/4406
?/? c.731G>T r.(?) p.(Arg244Leu) g.133384924C>A Copied from the Exome Variant Server GOLGA3_000334 1/13006 1/8600 0/4406
?/? c.768G>A r.(=) p.(=) g.133384887C>T Copied from the Exome Variant Server GOLGA3_000333 8/13006 7/8600 1/4406
?/? c.770G>C r.(?) p.(Gly257Ala) g.133384885C>G Copied from the Exome Variant Server GOLGA3_000332 1/13006 0/8600 1/4406
?/? c.791C>T r.(?) p.(Pro264Leu) g.133384864G>A Copied from the Exome Variant Server GOLGA3_000331 2784/13006 2559/8600 225/4406
?/? c.792G>A r.(=) p.(=) g.133384863C>T Copied from the Exome Variant Server GOLGA3_000330 12/13006 1/8600 11/4406
?/? c.807C>T r.(=) p.(=) g.133384848G>A Copied from the Exome Variant Server GOLGA3_000329 2/13006 2/8600 0/4406
?/? c.839C>T r.(?) p.(Ala280Val) g.133384816G>A Copied from the Exome Variant Server GOLGA3_000328 4/13006 4/8600 0/4406
?/? c.846C>T r.(=) p.(=) g.133384809G>A Copied from the Exome Variant Server GOLGA3_000327 51/13006 0/8600 51/4406
?/? c.852G>T r.(=) p.(=) g.133384803C>A Copied from the Exome Variant Server GOLGA3_000326 1/13006 0/8600 1/4406
?/? c.865C>G r.(?) p.(Leu289Val) g.133384790G>C Copied from the Exome Variant Server GOLGA3_000325 1/13006 1/8600 0/4406
?/? c.882C>T r.(=) p.(=) g.133384773G>A Copied from the Exome Variant Server GOLGA3_000324 2/13006 2/8600 0/4406
?/? c.883G>A r.(?) p.(Asp295Asn) g.133384772C>T Copied from the Exome Variant Server GOLGA3_000323 2/13006 2/8600 0/4406
?/? c.887G>A r.(?) p.(Arg296His) g.133384768C>T Copied from the Exome Variant Server GOLGA3_000322 1/13006 1/8600 0/4406
?/? c.917G>T r.(?) p.(Ser306Ile) g.133384738C>A Copied from the Exome Variant Server GOLGA3_000321 3/13006 0/8600 3/4406
?/? c.919G>A r.(?) p.(Val307Met) g.133384736C>T Copied from the Exome Variant Server GOLGA3_000320 3/13006 0/8600 3/4406
?/? c.966C>T r.(=) p.(=) g.133384689G>A Copied from the Exome Variant Server GOLGA3_000319 1/13006 1/8600 0/4406
?/? c.967G>A r.(?) p.(Ala323Thr) g.133384688C>T Copied from the Exome Variant Server GOLGA3_000318 3/13006 1/8600 2/4406
?/? c.986A>G r.(?) p.(Tyr329Cys) g.133384669T>C Copied from the Exome Variant Server GOLGA3_000317 1/13006 0/8600 1/4406
?/? c.998C>G r.(?) p.(Ser333Trp) g.133384657G>C Copied from the Exome Variant Server GOLGA3_000316 2/13006 1/8600 1/4406
?/? c.1013C>T r.(?) p.(Thr338Met) g.133384642G>A Copied from the Exome Variant Server GOLGA3_000315 1/13006 1/8600 0/4406
?/? c.1016A>G r.(?) p.(Gln339Arg) g.133384639T>C Copied from the Exome Variant Server GOLGA3_000314 1/13006 1/8600 0/4406
?/? c.1038C>T r.(=) p.(=) g.133384617G>A Copied from the Exome Variant Server GOLGA3_000313 2/13006 2/8600 0/4406
?/? c.1061C>T r.(?) p.(Thr354Ile) g.133384594G>A Copied from the Exome Variant Server GOLGA3_000312 1/13006 1/8600 0/4406
?/? c.1090G>A r.(?) p.(Val364Ile) g.133384565C>T Copied from the Exome Variant Server GOLGA3_000311 1/13006 0/8600 1/4406
?/? c.1101C>T r.(=) p.(=) g.133384554G>A Copied from the Exome Variant Server GOLGA3_000310 2/13006 1/8600 1/4406
?/? c.1102G>A r.(?) p.(Ala368Thr) g.133384553C>T Copied from the Exome Variant Server GOLGA3_000309 2/13006 2/8600 0/4406
?/? c.1107C>T r.(=) p.(=) g.133384548G>A Copied from the Exome Variant Server GOLGA3_000308 1/13006 0/8600 1/4406
?/? c.1109C>T r.(?) p.(Ala370Val) g.133384546G>A Copied from the Exome Variant Server GOLGA3_000307 5/13006 4/8600 1/4406
?/? c.1117C>G r.(?) p.(Gln373Glu) g.133384538G>C Copied from the Exome Variant Server GOLGA3_000306 1/13006 1/8600 0/4406
?/? c.1125G>C r.(?) p.(Gln375His) g.133384530C>G Copied from the Exome Variant Server GOLGA3_000305 1/13006 0/8600 1/4406
?/? c.1139A>G r.(?) p.(Asn380Ser) g.133384516T>C Copied from the Exome Variant Server GOLGA3_000304 240/13006 209/8600 31/4406
?/? c.1140C>T r.(=) p.(=) g.133384515G>A Copied from the Exome Variant Server GOLGA3_000303 1/13006 1/8600 0/4406
?/? c.1141G>C r.(?) p.(Gly381Arg) g.133384514C>G Copied from the Exome Variant Server GOLGA3_000302 5/13006 4/8600 1/4406
?/? c.1154G>A r.(?) p.(Ser385Asn) g.133384501C>T Copied from the Exome Variant Server GOLGA3_000301 1/13006 1/8600 0/4406
?/? c.1156C>T r.(?) p.(Arg386Trp) g.133384499G>A Copied from the Exome Variant Server GOLGA3_000300 1/13006 0/8600 1/4406
?/? c.1178+24C>T r.(=) p.(=) g.133384453G>A Copied from the Exome Variant Server GOLGA3_000299 1/12988 1/8592 0/4396
?/? c.1178+28del r.(=) p.(=) g.133384449del Copied from the Exome Variant Server GOLGA3_000298 64/12472 59/8224 5/4248
?/? c.1178+28dup r.(=) p.(=) g.133384449dup Copied from the Exome Variant Server GOLGA3_000297 5/12472 4/8224 1/4248
?/? c.1179-49A>G r.(=) p.(=) g.133383923T>C Copied from the Exome Variant Server GOLGA3_000296 12192/12688 8381/8384 3811/4304
?/? c.1207A>G r.(?) p.(Thr403Ala) g.133383846T>C Copied from the Exome Variant Server GOLGA3_000295 1/13002 0/8598 1/4404
?/? c.1224G>A r.(=) p.(=) g.133383829C>T Copied from the Exome Variant Server GOLGA3_000294 2/13004 0/8600 2/4404
?/? c.1266A>G r.(=) p.(=) g.133383787T>C Copied from the Exome Variant Server GOLGA3_000293 9/13004 9/8600 0/4404
?/? c.1290+5C>T r.spl? p.? g.133383758G>A Copied from the Exome Variant Server GOLGA3_000291 105/13002 96/8598 9/4404
?/? c.1290+23C>T r.(=) p.(=) g.133383740G>A Copied from the Exome Variant Server GOLGA3_000289 1/13002 0/8598 1/4404
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