All transcript variants in gene USP18

Information The variants shown are described using the NM_017414.3 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-34C>G r.(=) p.(=) g.18640397C>G Copied from the Exome Variant Server USP18_000001 182/13006 2/8600 180/4406
?/? c.5G>A r.(?) p.(Ser2Asn) g.18640435G>A Copied from the Exome Variant Server USP18_000002 1/13006 1/8600 0/4406
?/? c.37C>T r.(?) p.(Gln13*) g.18640467C>T Copied from the Exome Variant Server USP18_000003 1/13006 0/8600 1/4406
?/? c.73G>A r.(?) p.(Asp25Asn) g.18640503G>A Copied from the Exome Variant Server USP18_000004 2/13006 1/8600 1/4406
?/? c.97G>A r.(?) p.(Asp33Asn) g.18640527G>A Copied from the Exome Variant Server USP18_000005 11/13006 0/8600 11/4406
?/? c.157+13C>T r.(=) p.(=) g.18640600C>T Copied from the Exome Variant Server USP18_000006 1/13006 0/8600 1/4406
?/? c.157+28T>C r.(=) p.(=) g.18640615T>C Copied from the Exome Variant Server USP18_000007 1/13006 1/8600 0/4406
?/? c.157+49C>T r.(=) p.(=) g.18640636C>T Copied from the Exome Variant Server USP18_000008 1/13006 1/8600 0/4406
?/? c.158-5T>G r.spl? p.? g.18642934T>G Copied from the Exome Variant Server USP18_000009 46/13006 0/8600 46/4406
?/? c.219C>T r.(=) p.(=) g.18643000C>T Copied from the Exome Variant Server USP18_000010 11/13006 11/8600 0/4406
?/? c.239C>T r.(?) p.(Thr80Ile) g.18643020C>T Copied from the Exome Variant Server USP18_000011 3/13006 3/8600 0/4406
?/? c.254+24G>A r.(=) p.(=) g.18643059G>A Copied from the Exome Variant Server USP18_000012 16/13006 16/8600 0/4406
?/? c.255-29G>A r.(=) p.(=) g.18644528G>A Copied from the Exome Variant Server USP18_000013 86/12626 77/8360 9/4266
?/? c.285_287del r.(?) p.(Arg97del) g.18644587_18644589del Copied from the Exome Variant Server USP18_000014 6/12490 6/8232 0/4258
?/? c.371C>T r.(?) p.(Ala124Val) g.18644673C>T Copied from the Exome Variant Server USP18_000015 1/13006 1/8600 0/4406
?/? c.400T>C r.(=) p.(=) g.18644702T>C Copied from the Exome Variant Server USP18_000016 483/13006 106/8600 377/4406
?/? c.400+38C>T r.(=) p.(=) g.18644740C>T Copied from the Exome Variant Server USP18_000017 3/13006 3/8600 0/4406
?/? c.401-26T>C r.(=) p.(=) g.18649996T>C Copied from the Exome Variant Server USP18_000018 2/13006 1/8600 1/4406
?/? c.401-21G>A r.(=) p.(=) g.18650001G>A Copied from the Exome Variant Server USP18_000019 1/13006 1/8600 0/4406
?/? c.401-19T>C r.(=) p.(=) g.18650003T>C Copied from the Exome Variant Server USP18_000020 1/13006 1/8600 0/4406
?/? c.480+23C>T r.(=) p.(=) g.18650124C>T Copied from the Exome Variant Server USP18_000021 1/13006 1/8600 0/4406
?/? c.480+31C>T r.(=) p.(=) g.18650132C>T Copied from the Exome Variant Server USP18_000022 1/13006 0/8600 1/4406
?/? c.480+43C>T r.(=) p.(=) g.18650144C>T Copied from the Exome Variant Server USP18_000023 1/13006 0/8600 1/4406
?/? c.480+60G>T r.(=) p.(=) g.18650161G>T Copied from the Exome Variant Server USP18_000024 2/4566 0/3182 2/1384
?/? c.481-34T>C r.(=) p.(=) g.18650623T>C Copied from the Exome Variant Server USP18_000025 1/12990 1/8584 0/4406
?/? c.481-27C>T r.(=) p.(=) g.18650630C>T Copied from the Exome Variant Server USP18_000026 1/12996 0/8590 1/4406
?/? c.481-17C>T r.(=) p.(=) g.18650640C>T Copied from the Exome Variant Server USP18_000027 2/12996 1/8590 1/4406
?/? c.481-16G>A r.(=) p.(=) g.18650641G>A Copied from the Exome Variant Server USP18_000028 1/13002 1/8596 0/4406
?/? c.481-4G>T r.spl? p.? g.18650653G>T Copied from the Exome Variant Server USP18_000029 1/13004 1/8598 0/4406
?/? c.506C>T r.(?) p.(Thr169Met) g.18650682C>T Copied from the Exome Variant Server USP18_000030 4674/13006 2965/8600 1709/4406
?/? c.511C>T r.(?) p.(Arg171Trp) g.18650687C>T Copied from the Exome Variant Server USP18_000031 1/13006 1/8600 0/4406
?/? c.535G>A r.(?) p.(Val179Ile) g.18650711G>A Copied from the Exome Variant Server USP18_000032 2/13006 2/8600 0/4406
?/? c.554G>A r.(?) p.(Ser185Asn) g.18650730G>A Copied from the Exome Variant Server USP18_000033 2/13006 0/8600 2/4406
?/? c.625C>T r.(=) p.(=) g.18650801C>T Copied from the Exome Variant Server USP18_000034 1/13006 1/8600 0/4406
?/? c.627G>A r.(=) p.(=) g.18650803G>A Copied from the Exome Variant Server USP18_000035 3/13006 0/8600 3/4406
?/? c.627+12C>T r.(=) p.(=) g.18650815C>T Copied from the Exome Variant Server USP18_000036 1/13006 1/8600 0/4406
?/? c.627+45C>T r.(=) p.(=) g.18650848C>T Copied from the Exome Variant Server USP18_000037 2/13006 1/8600 1/4406
?/? c.628-48G>C r.(=) p.(=) g.18652563G>C Copied from the Exome Variant Server USP18_000038 1/12920 0/8566 1/4354
?/? c.628-40T>C r.(=) p.(=) g.18652571T>C Copied from the Exome Variant Server USP18_000039 6/12934 2/8578 4/4356
?/? c.633C>T r.(=) p.(=) g.18652616C>T Copied from the Exome Variant Server USP18_000040 13/12990 1/8590 12/4400
?/? c.672C>G r.(?) p.(Ser224Arg) g.18652655C>G Copied from the Exome Variant Server USP18_000041 1/12998 1/8596 0/4402
?/? c.677G>C r.(?) p.(Ser226Thr) g.18652660G>C Copied from the Exome Variant Server USP18_000042 1/12998 0/8596 1/4402
?/? c.683G>T r.(?) p.(Cys228Phe) g.18652666G>T Copied from the Exome Variant Server USP18_000043 2/13000 0/8596 2/4404
?/? c.705G>C r.(?) p.(Lys235Asn) g.18652688G>C Copied from the Exome Variant Server USP18_000044 1/12998 1/8596 0/4402
?/? c.712C>T r.(?) p.(Arg238Cys) g.18652695C>T Copied from the Exome Variant Server USP18_000045 15/12994 1/8592 14/4402
?/? c.713G>T r.(?) p.(Arg238Leu) g.18652696G>T Copied from the Exome Variant Server USP18_000046 1/12994 0/8592 1/4402
?/? c.724-48C>G r.(=) p.(=) g.18653472C>G Copied from the Exome Variant Server USP18_000047 1/13002 1/8596 0/4406
?/? c.724-35T>G r.(=) p.(=) g.18653485T>G Copied from the Exome Variant Server USP18_000048 1/13004 1/8598 0/4406
?/? c.892-31G>A r.(=) p.(=) g.18655886G>A Copied from the Exome Variant Server USP18_000049 1/12986 1/8598 0/4388
?/? c.892-1G>C r.spl? p.? g.18655916G>C Copied from the Exome Variant Server USP18_000050 1/12990 0/8594 1/4396
?/? c.907G>A r.(?) p.(Glu303Lys) g.18655932G>A Copied from the Exome Variant Server USP18_000051 7/12956 7/8560 0/4396
?/? c.910C>T r.(?) p.(Leu304Phe) g.18655935C>T Copied from the Exome Variant Server USP18_000052 1/12956 1/8560 0/4396
?/? c.930C>T r.(=) p.(=) g.18655955C>T Copied from the Exome Variant Server USP18_000053 1/12950 1/8558 0/4392
?/? c.931G>A r.(?) p.(Val311Met) g.18655956G>A Copied from the Exome Variant Server USP18_000054 1/12948 1/8558 0/4390
?/? c.967A>G r.(?) p.(Ile323Val) g.18655992A>G Copied from the Exome Variant Server USP18_000055 67/12934 0/8546 67/4388
?/? c.971G>A r.(?) p.(Arg324Gln) g.18655996G>A Copied from the Exome Variant Server USP18_000056 1/12920 1/8542 0/4378
?/? c.1023+44A>T r.(=) p.(=) g.18656092A>T Copied from the Exome Variant Server USP18_000057 60/12994 57/8590 3/4404
?/? c.1023+51G>A r.(=) p.(=) g.18656099G>A Copied from the Exome Variant Server USP18_000058 4/13000 2/8596 2/4404
?/? c.1024-8G>C r.(=) p.(=) g.18656552G>C Copied from the Exome Variant Server USP18_000059 1/12998 1/8592 0/4406
?/? c.1053C>T r.(=) p.(=) g.18656589C>T Copied from the Exome Variant Server USP18_000060 1/12962 1/8558 0/4404
?/? c.1066T>C r.(?) p.(Tyr356His) g.18656602T>C Copied from the Exome Variant Server USP18_000061 1/12962 1/8558 0/4404
?/? c.1073+22T>C r.(=) p.(=) g.18656631T>C Copied from the Exome Variant Server USP18_000062 1/12942 0/8552 1/4390
Legend