All transcript variants in gene USP8

Information The variants shown are described using the NM_005154.3 transcript reference sequence.

162 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-36T>G r.(=) p.(=) g.50731235T>G Copied from the Exome Variant Server USP8_000001 16/12974 0/8584 16/4390
?/? c.-32T>C r.(=) p.(=) g.50731239T>C Copied from the Exome Variant Server USP8_000002 8/12974 1/8584 7/4390
?/? c.-12A>G r.(=) p.(=) g.50731259A>G Copied from the Exome Variant Server USP8_000003 1/12976 0/8586 1/4390
?/? c.36C>T r.(=) p.(=) g.50731306C>T Copied from the Exome Variant Server USP8_000004 1/12978 1/8586 0/4392
?/? c.52A>G r.(?) p.(Lys18Glu) g.50731322A>G Copied from the Exome Variant Server USP8_000005 1/12978 0/8586 1/4392
?/? c.104+12C>T r.(=) p.(=) g.50731386C>T Copied from the Exome Variant Server USP8_000006 4/12980 0/8588 4/4392
?/? c.104+16C>T r.(=) p.(=) g.50731390C>T Copied from the Exome Variant Server USP8_000007 1995/12980 1562/8588 433/4392
?/? c.104+17G>A r.(=) p.(=) g.50731391G>A Copied from the Exome Variant Server USP8_000008 1/12980 1/8588 0/4392
?/? c.104+20A>G r.(=) p.(=) g.50731394A>G Copied from the Exome Variant Server USP8_000009 4/12980 0/8588 4/4392
?/? c.104+41_104+74del r.(=) p.(=) g.50731415_50731448del Copied from the Exome Variant Server USP8_000010 41/12506 37/8250 4/4256
?/? c.104+45T>C r.(=) p.(=) g.50731419T>C Copied from the Exome Variant Server USP8_000011 24/12964 0/8582 24/4382
?/? c.105-39G>C r.(=) p.(=) g.50733507G>C Copied from the Exome Variant Server USP8_000012 2/12950 2/8580 0/4370
?/? c.105-20_105-19insT r.(=) p.(=) g.50733526_50733527insT Copied from the Exome Variant Server USP8_000013 1/12504 1/8246 0/4258
?/? c.111G>C r.(=) p.(=) g.50733552G>C Copied from the Exome Variant Server USP8_000014 1/12980 1/8588 0/4392
?/? c.172A>G r.(?) p.(Arg58Gly) g.50733613A>G Copied from the Exome Variant Server USP8_000015 1/12980 1/8588 0/4392
?/? c.186A>G r.(=) p.(=) g.50733627A>G Copied from the Exome Variant Server USP8_000016 1/12980 0/8588 1/4392
?/? c.187T>C r.(?) p.(Tyr63His) g.50733628T>C Copied from the Exome Variant Server USP8_000017 1/12980 1/8588 0/4392
?/? c.250-51A>C r.(=) p.(=) g.50741546A>C Copied from the Exome Variant Server USP8_000018 3/12932 0/8574 3/4358
?/? c.250-15T>C r.(=) p.(=) g.50741582T>C Copied from the Exome Variant Server USP8_000019 10/12968 9/8584 1/4384
?/? c.250-8A>C r.(=) p.(=) g.50741589A>C Copied from the Exome Variant Server USP8_000020 5/12960 5/8580 0/4380
?/? c.250G>A r.(?) p.(Asp84Asn) g.50741597G>A Copied from the Exome Variant Server USP8_000021 1/12958 1/8578 0/4380
?/? c.283A>G r.(?) p.(Ile95Val) g.50741630A>G Copied from the Exome Variant Server USP8_000022 1/12970 1/8586 0/4384
?/? c.297C>T r.(=) p.(=) g.50741644C>T Copied from the Exome Variant Server USP8_000023 1/12966 1/8584 0/4382
?/? c.335+4C>T r.spl? p.? g.50741686C>T Copied from the Exome Variant Server USP8_000024 1/12908 1/8562 0/4346
?/? c.336-50T>C r.(=) p.(=) g.50751147T>C Copied from the Exome Variant Server USP8_000025 3/12970 0/8582 3/4388
?/? c.336-34A>G r.(=) p.(=) g.50751163A>G Copied from the Exome Variant Server USP8_000026 3/12980 0/8588 3/4392
?/? c.336-27A>G r.(=) p.(=) g.50751170A>G Copied from the Exome Variant Server USP8_000027 139/12978 1/8588 138/4390
?/? c.356G>A r.(?) p.(Arg119Gln) g.50751217G>A Copied from the Exome Variant Server USP8_000028 1/12980 0/8588 1/4392
?/? c.397C>T r.(?) p.(Arg133Trp) g.50751258C>T Copied from the Exome Variant Server USP8_000029 2/12980 1/8588 1/4392
?/? c.400C>T r.(=) p.(=) g.50751261C>T Copied from the Exome Variant Server USP8_000030 190/12980 1/8588 189/4392
?/? c.481A>G r.(?) p.(Lys161Glu) g.50751342A>G Copied from the Exome Variant Server USP8_000031 1/12980 1/8588 0/4392
?/? c.488A>C r.(?) p.(Lys163Thr) g.50751349A>C Copied from the Exome Variant Server USP8_000032 1/12980 0/8588 1/4392
?/? c.498+3A>G r.spl? p.? g.50751362A>G Copied from the Exome Variant Server USP8_000033 1/12980 1/8588 0/4392
?/? c.498+23G>T r.(=) p.(=) g.50751382G>T Copied from the Exome Variant Server USP8_000034 2/12980 2/8588 0/4392
?/? c.498+49A>G r.(=) p.(=) g.50751408A>G Copied from the Exome Variant Server USP8_000035 147/12980 127/8588 20/4392
?/? c.499-36T>C r.(=) p.(=) g.50754441T>C Copied from the Exome Variant Server USP8_000036 2/12976 2/8586 0/4390
?/? c.503A>G r.(?) p.(Asn168Ser) g.50754481A>G Copied from the Exome Variant Server USP8_000037 1/12978 1/8586 0/4392
?/? c.515A>G r.(?) p.(Asn172Ser) g.50754493A>G Copied from the Exome Variant Server USP8_000038 2/12980 2/8588 0/4392
?/? c.541+4A>C r.spl? p.? g.50754523A>C Copied from the Exome Variant Server USP8_000039 1/12980 1/8588 0/4392
?/? c.541+27G>C r.(=) p.(=) g.50754546G>C Copied from the Exome Variant Server USP8_000040 1/12978 1/8586 0/4392
?/? c.541+43G>A r.(=) p.(=) g.50754562G>A Copied from the Exome Variant Server USP8_000041 1/12980 1/8588 0/4392
?/? c.541+52T>C r.(=) p.(=) g.50754571T>C Copied from the Exome Variant Server USP8_000042 1/7246 0/4606 1/2640
?/? c.541+81A>G r.(=) p.(=) g.50754600A>G Copied from the Exome Variant Server USP8_000043 19/4538 1/3168 18/1370
?/? c.542-51G>A r.(=) p.(=) g.50757193G>A Copied from the Exome Variant Server USP8_000044 67/12980 0/8588 67/4392
?/? c.542-18G>A r.(=) p.(=) g.50757226G>A Copied from the Exome Variant Server USP8_000045 1/12980 1/8588 0/4392
?/? c.561A>G r.(=) p.(=) g.50757263A>G Copied from the Exome Variant Server USP8_000046 1/12980 1/8588 0/4392
?/? c.583A>G r.(?) p.(Lys195Glu) g.50757285A>G Copied from the Exome Variant Server USP8_000047 12/12980 11/8588 1/4392
?/? c.634G>A r.(?) p.(Asp212Asn) g.50757336G>A Copied from the Exome Variant Server USP8_000048 28/12980 1/8588 27/4392
?/? c.643A>G r.(?) p.(Ile215Val) g.50757345A>G Copied from the Exome Variant Server USP8_000049 1/12980 1/8588 0/4392
?/? c.659G>A r.(?) p.(Ser220Asn) g.50757361G>A Copied from the Exome Variant Server USP8_000050 5/12976 0/8584 5/4392
?/? c.687-52A>G r.(=) p.(=) g.50763778A>G Copied from the Exome Variant Server USP8_000051 17/5734 16/3982 1/1752
?/? c.687-34C>T r.(=) p.(=) g.50763796C>T Copied from the Exome Variant Server USP8_000052 1/12980 1/8588 0/4392
?/? c.687-30T>C r.(=) p.(=) g.50763800T>C Copied from the Exome Variant Server USP8_000053 1/12980 1/8588 0/4392
?/? c.687-28C>T r.(=) p.(=) g.50763802C>T Copied from the Exome Variant Server USP8_000054 1/12980 1/8588 0/4392
?/? c.714C>T r.(=) p.(=) g.50763857C>T Copied from the Exome Variant Server USP8_000055 1/12980 0/8588 1/4392
?/? c.762G>A r.(=) p.(=) g.50763905G>A Copied from the Exome Variant Server USP8_000056 1/12980 1/8588 0/4392
?/? c.764A>G r.(?) p.(Tyr255Cys) g.50763907A>G Copied from the Exome Variant Server USP8_000057 1/12980 1/8588 0/4392
?/? c.802T>A r.(?) p.(Leu268Ile) g.50763945T>A Copied from the Exome Variant Server USP8_000058 244/12980 219/8588 25/4392
?/? c.820C>G r.(?) p.(Leu274Val) g.50763963C>G Copied from the Exome Variant Server USP8_000059 1/12980 1/8588 0/4392
?/? c.824G>T r.(?) p.(Arg275Leu) g.50763967G>T Copied from the Exome Variant Server USP8_000060 1/12980 0/8588 1/4392
?/? c.865G>A r.(?) p.(Val289Ile) g.50769061G>A Copied from the Exome Variant Server USP8_000061 1/12980 1/8588 0/4392
?/? c.965G>A r.(?) p.(Arg322Gln) g.50769161G>A Copied from the Exome Variant Server USP8_000062 7/12980 0/8588 7/4392
?/? c.967C>T r.(?) p.(Arg323Cys) g.50769163C>T Copied from the Exome Variant Server USP8_000063 1/12980 1/8588 0/4392
?/? c.988A>G r.(?) p.(Ile330Val) g.50769184A>G Copied from the Exome Variant Server USP8_000064 1/12980 1/8588 0/4392
?/? c.994+45T>C r.(=) p.(=) g.50769235T>C Copied from the Exome Variant Server USP8_000065 10/12960 9/8568 1/4392
?/? c.995-38T>C r.(=) p.(=) g.50769435T>C Copied from the Exome Variant Server USP8_000066 1/12818 1/8538 0/4280
?/? c.995-6del r.(=) p.(=) g.50769467del Copied from the Exome Variant Server USP8_000067 5/12468 3/8240 2/4228
?/? c.1011C>G r.(=) p.(=) g.50769489C>G Copied from the Exome Variant Server USP8_000068 1/12974 0/8586 1/4388
?/? c.1022A>G r.(?) p.(Glu341Gly) g.50769500A>G Copied from the Exome Variant Server USP8_000069 1/12978 0/8588 1/4390
?/? c.1042G>A r.(?) p.(Ala348Thr) g.50769520G>A Copied from the Exome Variant Server USP8_000070 419/12980 373/8588 46/4392
?/? c.1142T>C r.(?) p.(Val381Ala) g.50769620T>C Copied from the Exome Variant Server USP8_000071 5/12980 0/8588 5/4392
?/? c.1150G>T r.(?) p.(Val384Phe) g.50769628G>T Copied from the Exome Variant Server USP8_000072 2/12980 2/8588 0/4392
?/? c.1162A>G r.(?) p.(Lys388Glu) g.50769640A>G Copied from the Exome Variant Server USP8_000073 56/12980 0/8588 56/4392
?/? c.1170T>A r.(?) p.(Asp390Glu) g.50769648T>A Copied from the Exome Variant Server USP8_000075 1/12980 1/8588 0/4392
?/? c.1218+28C>T r.(=) p.(=) g.50769724C>T Copied from the Exome Variant Server USP8_000077 3/12972 0/8584 3/4388
?/? c.1219-44C>T r.(=) p.(=) g.50773634C>T Copied from the Exome Variant Server USP8_000074 1/12914 0/8564 1/4350
?/? c.1226G>A r.(?) p.(Arg409His) g.50773685G>A Copied from the Exome Variant Server USP8_000076 1/12978 1/8588 0/4390
?/? c.1296G>A N/A N/A g.50773755G>A Copied from the Exome Variant Server USP8_000078 12870/12980 8588/8588 4282/4392
?/? c.1299A>G r.(=) p.(=) g.50773758A>G Copied from the Exome Variant Server USP8_000079 1/12980 1/8588 0/4392
?/? c.1328A>G r.(?) p.(Asp443Gly) g.50773787A>G Copied from the Exome Variant Server USP8_000080 307/12980 227/8588 80/4392
?/? c.1330C>T r.(?) p.(Arg444Cys) g.50773789C>T Copied from the Exome Variant Server USP8_000081 8/12980 3/8588 5/4392
?/? c.1365C>T r.(=) p.(=) g.50773824C>T Copied from the Exome Variant Server USP8_000082 7/12980 1/8588 6/4392
?/? c.1391G>A r.(?) p.(Arg464His) g.50773850G>A Copied from the Exome Variant Server USP8_000083 1/12980 0/8588 1/4392
?/? c.1448G>A r.(?) p.(Arg483Gln) g.50773907G>A Copied from the Exome Variant Server USP8_000084 58/12978 0/8588 58/4390
?/? c.1464G>A r.(=) p.(=) g.50773923G>A Copied from the Exome Variant Server USP8_000085 8/12978 0/8588 8/4390
?/? c.1516A>C r.(?) p.(Lys506Gln) g.50773975A>C Copied from the Exome Variant Server USP8_000086 53/12920 0/8546 53/4374
?/? c.1633G>A r.(?) p.(Gly545Ser) g.50774092G>A Copied from the Exome Variant Server USP8_000087 1/12978 0/8588 1/4390
?/? c.1773A>G r.(=) p.(=) g.50774232A>G Copied from the Exome Variant Server USP8_000088 1/12978 0/8586 1/4392
?/? c.1780A>C r.(?) p.(Thr594Pro) g.50774239A>C Copied from the Exome Variant Server USP8_000089 1/12978 0/8586 1/4392
?/? c.1793G>T r.(?) p.(Gly598Val) g.50774252G>T Copied from the Exome Variant Server USP8_000090 2/12974 2/8584 0/4390
?/? c.1803+9_1803+10del r.(=) p.(=) g.50774271_50774272del Copied from the Exome Variant Server USP8_000091 1/12508 0/8246 1/4262
?/? c.1803+46A>G r.(=) p.(=) g.50774308A>G Copied from the Exome Variant Server USP8_000092 2/12904 2/8538 0/4366
?/? c.1804-5_1804-4insA r.spl? p.? g.50776467_50776468insA Copied from the Exome Variant Server USP8_000093 1/12474 1/8228 0/4246
?/? c.1844G>A r.(?) p.(Arg615Lys) g.50776512G>A Copied from the Exome Variant Server USP8_000094 1/12970 1/8578 0/4392
?/? c.1857T>C r.(=) p.(=) g.50776525T>C Copied from the Exome Variant Server USP8_000095 1347/12970 272/8578 1075/4392
?/? c.1872C>T r.(=) p.(=) g.50776540C>T Copied from the Exome Variant Server USP8_000096 4/12966 3/8574 1/4392
?/? c.1878C>T r.(=) p.(=) g.50776546C>T Copied from the Exome Variant Server USP8_000097 1/12968 1/8576 0/4392
?/? c.1890+45A>G r.(=) p.(=) g.50776603A>G Copied from the Exome Variant Server USP8_000098 2/12954 0/8570 2/4384
?/? c.1891-44_1891-43insA r.(=) p.(=) g.50781954_50781955insA Copied from the Exome Variant Server USP8_000099 864/5560 543/3836 321/1724
?/? c.1891-35del r.(=) p.(=) g.50781963del Copied from the Exome Variant Server USP8_000100 2797/6694 1731/4638 1066/2056
Legend   « First ‹ Prev     1 2     Next › Last »