All transcript variants in gene UGGT2

Information The variants shown are described using the NM_020121.3 transcript reference sequence.

331 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.-42_-41del r.(=) p.(=) g.96705607_96705608del Copied from the Exome Variant Server UGGT2_000330 98/11500 1/7588 97/3912
?/? c.-29C>T r.(=) p.(=) g.96705595G>A Copied from the Exome Variant Server UGGT2_000329 2/12678 2/8386 0/4292
?/? c.-17G>C r.(=) p.(=) g.96705583C>G Copied from the Exome Variant Server UGGT2_000328 3/12830 3/8494 0/4336
?/? c.6G>A r.(=) p.(=) g.96705561C>T Copied from the Exome Variant Server UGGT2_000327 1/12862 0/8522 1/4340
?/? c.24C>T r.(=) p.(=) g.96705543G>A Copied from the Exome Variant Server UGGT2_000326 1/12780 1/8462 0/4318
?/? c.103G>T r.(?) p.(Val35Leu) g.96705464C>A Copied from the Exome Variant Server UGGT2_000325 11/12298 0/8162 11/4136
?/? c.158+21C>T r.(=) p.(=) g.96705388G>A Copied from the Exome Variant Server UGGT2_000324 5/9234 0/6174 5/3060
?/? c.158+41C>T r.(=) p.(=) g.96705368G>A Copied from the Exome Variant Server UGGT2_000323 32/8070 30/5462 2/2608
?/? c.159-46A>G r.(=) p.(=) g.96684271T>C Copied from the Exome Variant Server UGGT2_000321 1/12868 1/8508 0/4360
?/? c.159-39A>G r.(=) p.(=) g.96684264T>C Copied from the Exome Variant Server UGGT2_000319 2/12890 0/8522 2/4368
?/? c.159-24C>T r.(=) p.(=) g.96684249G>A Copied from the Exome Variant Server UGGT2_000322 3/12932 3/8546 0/4386
?/? c.159-23G>A r.(=) p.(=) g.96684248C>T Copied from the Exome Variant Server UGGT2_000320 1/12932 1/8546 0/4386
?/? c.181A>G r.(?) p.(Asn61Asp) g.96684203T>C Copied from the Exome Variant Server UGGT2_000318 1/12956 1/8558 0/4398
?/? c.185A>G r.(?) p.(Glu62Gly) g.96684199T>C Copied from the Exome Variant Server UGGT2_000317 5/12954 0/8556 5/4398
?/? c.240A>G r.(=) p.(=) g.96684144T>C Copied from the Exome Variant Server UGGT2_000316 1/12950 1/8556 0/4394
?/? c.241+19T>G r.(=) p.(=) g.96684124A>C Copied from the Exome Variant Server UGGT2_000315 1/12940 0/8548 1/4392
?/? c.241+47A>G r.(=) p.(=) g.96684096T>C Copied from the Exome Variant Server UGGT2_000314 7/12926 0/8536 7/4390
?/? c.263A>G r.(?) p.(Asn88Ser) g.96675992T>C Copied from the Exome Variant Server UGGT2_000313 1/13006 1/8600 0/4406
?/? c.264C>T r.(=) p.(=) g.96675991G>A Copied from the Exome Variant Server UGGT2_000312 7/13006 0/8600 7/4406
?/? c.318A>G r.(=) p.(=) g.96675937T>C Copied from the Exome Variant Server UGGT2_000311 1/13006 0/8600 1/4406
?/? c.352G>T r.(?) p.(Ala118Ser) g.96675903C>A Copied from the Exome Variant Server UGGT2_000310 1/13006 1/8600 0/4406
?/? c.355A>G r.(?) p.(Ile119Val) g.96675900T>C Copied from the Exome Variant Server UGGT2_000309 2/13006 0/8600 2/4406
?/? c.356T>A r.(?) p.(Ile119Asn) g.96675899A>T Copied from the Exome Variant Server UGGT2_000308 2/13006 1/8600 1/4406
?/? c.372+4C>T r.spl? p.? g.96675879G>A Copied from the Exome Variant Server UGGT2_000307 14/13006 0/8600 14/4406
?/? c.372+6T>C r.(=) p.(=) g.96675877A>G Copied from the Exome Variant Server UGGT2_000306 9/13006 0/8600 9/4406
?/? c.372+42C>T r.(=) p.(=) g.96675841G>A Copied from the Exome Variant Server UGGT2_000305 2/13004 0/8598 2/4406
?/? c.372+50G>A r.(=) p.(=) g.96675833C>T Copied from the Exome Variant Server UGGT2_000304 1/13004 1/8598 0/4406
?/? c.385G>A r.(?) p.(Glu129Lys) g.96675394C>T Copied from the Exome Variant Server UGGT2_000303 1/13002 1/8596 0/4406
?/? c.395C>G r.(?) p.(Pro132Arg) g.96675384G>C Copied from the Exome Variant Server UGGT2_000302 1/13002 0/8596 1/4406
?/? c.418G>A r.(?) p.(Val140Ile) g.96675361C>T Copied from the Exome Variant Server UGGT2_000301 32/13000 31/8594 1/4406
?/? c.485+5A>G r.spl? p.? g.96675289T>C Copied from the Exome Variant Server UGGT2_000300 1/12998 0/8592 1/4406
?/? c.485+9A>G r.(=) p.(=) g.96675285T>C Copied from the Exome Variant Server UGGT2_000299 1/12996 0/8590 1/4406
?/? c.485+20T>C r.(=) p.(=) g.96675274A>G Copied from the Exome Variant Server UGGT2_000298 5/12990 0/8586 5/4404
?/? c.486-17T>C r.(=) p.(=) g.96665752A>G Copied from the Exome Variant Server UGGT2_000297 4/12994 4/8592 0/4402
?/? c.495T>G r.(=) p.(=) g.96665726A>C Copied from the Exome Variant Server UGGT2_000296 2/12998 0/8594 2/4404
?/? c.505A>G r.(?) p.(Lys169Glu) g.96665716T>C Copied from the Exome Variant Server UGGT2_000295 1/13000 0/8596 1/4404
?/? c.524C>T r.(?) p.(Pro175Leu) g.96665697G>A Copied from the Exome Variant Server UGGT2_000294 21/13004 20/8600 1/4404
?/? c.531_534del r.(?) p.(Asn177Lysfs*7) g.96665687_96665690del Copied from the Exome Variant Server UGGT2_000293 3/12516 1/8254 2/4262
?/? c.537G>C r.(?) p.(Glu179Asp) g.96665684C>G Copied from the Exome Variant Server UGGT2_000292 1/13004 1/8600 0/4404
?/? c.565G>A r.(?) p.(Glu189Lys) g.96665656C>T Copied from the Exome Variant Server UGGT2_000291 1/13004 1/8600 0/4404
?/? c.591A>G r.(=) p.(=) g.96665630T>C Copied from the Exome Variant Server UGGT2_000290 1/13006 0/8600 1/4406
?/? c.601G>A r.(?) p.(Val201Ile) g.96665620C>T Copied from the Exome Variant Server UGGT2_000289 1/13006 1/8600 0/4406
?/? c.647G>A r.(?) p.(Arg216His) g.96665574C>T Copied from the Exome Variant Server UGGT2_000288 1/13006 1/8600 0/4406
?/? c.757+20A>G r.(=) p.(=) g.96651445T>C Copied from the Exome Variant Server UGGT2_000287 5/13004 5/8598 0/4406
?/? c.758-2A>G r.spl? p.? g.96648391T>C Copied from the Exome Variant Server UGGT2_000286 1/13002 1/8598 0/4404
?/? c.763A>G r.(?) p.(Thr255Ala) g.96648384T>C Copied from the Exome Variant Server UGGT2_000285 288/13002 0/8598 288/4404
?/? c.801A>T r.(?) p.(Glu267Asp) g.96648346T>A Copied from the Exome Variant Server UGGT2_000284 1/13004 0/8598 1/4406
?/? c.830+21A>G r.(=) p.(=) g.96648296T>C Copied from the Exome Variant Server UGGT2_000283 1/13000 0/8594 1/4406
?/? c.830+35T>C r.(=) p.(=) g.96648282A>G Copied from the Exome Variant Server UGGT2_000282 3/12994 0/8588 3/4406
?/? c.830+38C>G r.(=) p.(=) g.96648279G>C Copied from the Exome Variant Server UGGT2_000281 1/12992 1/8586 0/4406
?/? c.830+44G>A r.(=) p.(=) g.96648273C>T Copied from the Exome Variant Server UGGT2_000280 2/12996 0/8590 2/4406
?/? c.831-29A>C r.(=) p.(=) g.96642356T>G Copied from the Exome Variant Server UGGT2_000279 1/12996 0/8590 1/4406
?/? c.831-14A>G r.(=) p.(=) g.96642341T>C Copied from the Exome Variant Server UGGT2_000278 1/12996 0/8590 1/4406
?/? c.833A>C r.(?) p.(Glu278Ala) g.96642325T>G Copied from the Exome Variant Server UGGT2_000277 1/12998 1/8592 0/4406
?/? c.861G>A r.(=) p.(=) g.96642297C>T Copied from the Exome Variant Server UGGT2_000276 1/12996 1/8592 0/4404
?/? c.863C>G r.(?) p.(Thr288Arg) g.96642295G>C Copied from the Exome Variant Server UGGT2_000275 1/13000 1/8596 0/4404
?/? c.864A>G r.(=) p.(=) g.96642294T>C Copied from the Exome Variant Server UGGT2_000274 1/12998 0/8596 1/4402
?/? c.877T>C r.(?) p.(Tyr293His) g.96642281A>G Copied from the Exome Variant Server UGGT2_000273 1/12996 0/8592 1/4404
?/? c.894C>T r.(=) p.(=) g.96642264G>A Copied from the Exome Variant Server UGGT2_000272 1/12996 0/8590 1/4406
?/? c.922G>A r.(?) p.(Glu308Lys) g.96642236C>T Copied from the Exome Variant Server UGGT2_000271 2/12998 2/8592 0/4406
?/? c.931+394A>G r.(=) p.(=) g.96641833T>C Copied from the Exome Variant Server UGGT2_000270 3/5540 2/3854 1/1686
?/? c.931+450A>G r.(=) p.(=) g.96641777T>C Copied from the Exome Variant Server UGGT2_000269 5/5524 5/3842 0/1682
?/? c.967G>A r.(?) p.(Ala323Thr) g.96638651C>T Copied from the Exome Variant Server UGGT2_000268 1585/12996 1389/8590 196/4406
?/? c.982T>G r.(?) p.(Ser328Ala) g.96638636A>C Copied from the Exome Variant Server UGGT2_000267 11074/12994 7521/8588 3553/4406
?/? c.1031+19G>C r.(=) p.(=) g.96638568C>G Copied from the Exome Variant Server UGGT2_000266 1/12998 0/8592 1/4406
?/? c.1031+1000A>G r.(=) p.(=) g.96637587T>C Copied from the Exome Variant Server UGGT2_000265 1/5714 0/3970 1/1744
?/? c.1031+1061G>A r.(=) p.(=) g.96637526C>T Copied from the Exome Variant Server UGGT2_000264 1/5712 1/3970 0/1742
?/? c.1032-57T>C r.(=) p.(=) g.96636175A>G Copied from the Exome Variant Server UGGT2_000263 7/4512 7/3130 0/1382
?/? c.1032-52C>G r.(=) p.(=) g.96636170G>C Copied from the Exome Variant Server UGGT2_000262 2470/7178 1691/4538 779/2640
?/? c.1032-45A>G r.(=) p.(=) g.96636163T>C Copied from the Exome Variant Server UGGT2_000261 1/12874 0/8516 1/4358
?/? c.1032-38T>G r.(=) p.(=) g.96636156A>C Copied from the Exome Variant Server UGGT2_000260 1/12874 1/8514 0/4360
?/? c.1032-30G>C r.(=) p.(=) g.96636148C>G Copied from the Exome Variant Server UGGT2_000259 180/12888 0/8524 180/4364
?/? c.1032-11C>A r.(=) p.(=) g.96636129G>T Copied from the Exome Variant Server UGGT2_000258 1/12916 1/8544 0/4372
?/? c.1032-5_1032-4insT r.spl? p.? g.96636122_96636123insA Copied from the Exome Variant Server UGGT2_000257 8/12428 7/8198 1/4230
?/? c.1068A>T r.(?) p.(Arg356Ser) g.96636082T>A Copied from the Exome Variant Server UGGT2_000256 4/12942 4/8562 0/4380
?/? c.1092+169C>T r.(=) p.(=) g.96635889G>A Copied from the Exome Variant Server UGGT2_000255 1/5634 1/3926 0/1708
?/? c.1092+215C>T r.(=) p.(=) g.96635843G>A Copied from the Exome Variant Server UGGT2_000254 45/5686 43/3950 2/1736
?/? c.1093-43A>G r.(=) p.(=) g.96624968T>C Copied from the Exome Variant Server UGGT2_000253 3/13004 3/8600 0/4404
?/? c.1093-37C>A r.(=) p.(=) g.96624962G>T Copied from the Exome Variant Server UGGT2_000252 1/13004 1/8600 0/4404
?/? c.1093-28G>A r.(=) p.(=) g.96624953C>T Copied from the Exome Variant Server UGGT2_000251 1/13004 0/8600 1/4404
?/? c.1093-21A>G r.(=) p.(=) g.96624946T>C Copied from the Exome Variant Server UGGT2_000250 3/13006 0/8600 3/4406
?/? c.1093-10C>G r.(=) p.(=) g.96624935G>C Copied from the Exome Variant Server UGGT2_000249 1/13006 1/8600 0/4406
?/? c.1133G>A r.(?) p.(Arg378His) g.96624885C>T Copied from the Exome Variant Server UGGT2_000248 23/13006 16/8600 7/4406
?/? c.1149C>A r.(=) p.(=) g.96624869G>T Copied from the Exome Variant Server UGGT2_000331 1/13006 1/8600 0/4406
?/? c.1176C>T r.(=) p.(=) g.96624842G>A Copied from the Exome Variant Server UGGT2_000246 1/13006 1/8600 0/4406
?/? c.1182T>C r.(=) p.(=) g.96624836A>G Copied from the Exome Variant Server UGGT2_000247 207/13006 44/8600 163/4406
?/? c.1184+14T>C r.(=) p.(=) g.96624820A>G Copied from the Exome Variant Server UGGT2_000245 2/13004 0/8600 2/4404
?/? c.1184+11_1184+15del r.(=) p.(=) g.96624819_96624823del Copied from the Exome Variant Server UGGT2_000244 36/12516 17/8254 19/4262
?/? c.1184+24A>C r.(=) p.(=) g.96624810T>G Copied from the Exome Variant Server UGGT2_000243 328/13002 299/8600 29/4402
?/? c.1184+32A>G r.(=) p.(=) g.96624802T>C Copied from the Exome Variant Server UGGT2_000242 1/13002 1/8600 0/4402
?/? c.1184+52C>G r.(=) p.(=) g.96624782G>C Copied from the Exome Variant Server UGGT2_000241 33/10290 29/7158 4/3132
?/? c.1185-30A>G r.(=) p.(=) g.96622546T>C Copied from the Exome Variant Server UGGT2_000240 8/12794 8/8528 0/4266
?/? c.1185-28_1185-26del r.(=) p.(=) g.96622542_96622544del Copied from the Exome Variant Server UGGT2_000239 1/12292 1/8172 0/4120
?/? c.1185-21_1185-20del r.(=) p.(=) g.96622536_96622537del Copied from the Exome Variant Server UGGT2_000238 3/12366 2/8194 1/4172
?/? c.1185-7T>G r.(=) p.(=) g.96622523A>C Copied from the Exome Variant Server UGGT2_000237 1/12904 0/8560 1/4344
?/? c.1218G>T r.(?) p.(Met406Ile) g.96622483C>A Copied from the Exome Variant Server UGGT2_000236 3/12996 3/8590 0/4406
?/? c.1227C>G r.(=) p.(=) g.96622474G>C Copied from the Exome Variant Server UGGT2_000235 2/12994 0/8588 2/4406
?/? c.1228C>A r.(?) p.(Leu410Ile) g.96622473G>T Copied from the Exome Variant Server UGGT2_000234 1/12994 1/8588 0/4406
?/? c.1231C>T r.(?) p.(Arg411Cys) g.96622470G>A Copied from the Exome Variant Server UGGT2_000233 9/12994 9/8588 0/4406
?/? c.1232G>A r.(?) p.(Arg411His) g.96622469C>T Copied from the Exome Variant Server UGGT2_000232 2/12994 1/8588 1/4406
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