All transcript variants in gene RPN1

Information The variants shown are described using the NM_002950.3 transcript reference sequence.

95 entries on 1 page. Showing entries 1 - 95.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.31C>G r.(?) p.(Leu11Val) g.128369613G>C Copied from the Exome Variant Server RPN1_000095 4/11592 4/7714 0/3878
?/? c.47C>G r.(?) p.(Thr16Ser) g.128369597G>C Copied from the Exome Variant Server RPN1_000093 82/12180 0/8084 82/4096
?/? c.48T>G r.(=) p.(=) g.128369596A>C Copied from the Exome Variant Server RPN1_000091 5/12180 0/8082 5/4098
?/? c.54C>T r.(=) p.(=) g.128369590G>A Copied from the Exome Variant Server RPN1_000089 1/12314 0/8180 1/4134
?/? c.60G>A r.(=) p.(=) g.128369584C>T Copied from the Exome Variant Server RPN1_000087 1/12432 1/8260 0/4172
?/? c.85C>T r.(?) p.(Pro29Ser) g.128369559G>A Copied from the Exome Variant Server RPN1_000085 2/12860 0/8506 2/4354
?/? c.98A>T r.(?) p.(Asn33Ile) g.128369546T>A Copied from the Exome Variant Server RPN1_000083 1/12938 0/8560 1/4378
?/? c.120G>A r.(=) p.(=) g.128369524C>T Copied from the Exome Variant Server RPN1_000081 1/12960 1/8574 0/4386
?/? c.153C>T r.(=) p.(=) g.128369491G>A Copied from the Exome Variant Server RPN1_000094 6/12898 6/8534 0/4364
?/? c.161T>G r.(?) p.(Val54Gly) g.128369483A>C Copied from the Exome Variant Server RPN1_000092 1/12862 1/8516 0/4346
?/? c.194G>T r.(?) p.(Arg65Leu) g.128369450C>A Copied from the Exome Variant Server RPN1_000090 1/12550 0/8340 1/4210
?/? c.262-19C>G r.(=) p.(=) g.128363845G>C Copied from the Exome Variant Server RPN1_000088 244/13004 226/8598 18/4406
?/? c.283G>A r.(?) p.(Glu95Lys) g.128363805C>T Copied from the Exome Variant Server RPN1_000086 1/13006 1/8600 0/4406
?/? c.326+17T>C r.(=) p.(=) g.128363745A>G Copied from the Exome Variant Server RPN1_000084 1/13004 1/8600 0/4404
?/? c.327-15T>C r.(=) p.(=) g.128356963A>G Copied from the Exome Variant Server RPN1_000082 3/13006 0/8600 3/4406
?/? c.372G>T r.(=) p.(=) g.128356903C>A Copied from the Exome Variant Server RPN1_000080 12/13006 0/8600 12/4406
?/? c.422C>T r.(?) p.(Pro141Leu) g.128356853G>A Copied from the Exome Variant Server RPN1_000079 1/13006 0/8600 1/4406
?/? c.423G>A r.(=) p.(=) g.128356852C>T Copied from the Exome Variant Server RPN1_000078 7850/13006 5280/8600 2570/4406
?/? c.430A>G r.(?) p.(Thr144Ala) g.128356845T>C Copied from the Exome Variant Server RPN1_000077 3/13006 3/8600 0/4406
?/? c.434A>C r.(?) p.(Gln145Pro) g.128356841T>G Copied from the Exome Variant Server RPN1_000076 1/13006 1/8600 0/4406
?/? c.438C>T r.(=) p.(=) g.128356837G>A Copied from the Exome Variant Server RPN1_000075 1/13006 0/8600 1/4406
?/? c.518T>C r.(?) p.(Met173Thr) g.128356757A>G Copied from the Exome Variant Server RPN1_000074 2/13006 2/8600 0/4406
?/? c.520C>T r.(?) p.(Arg174Cys) g.128356755G>A Copied from the Exome Variant Server RPN1_000073 1/13006 0/8600 1/4406
?/? c.521G>A r.(?) p.(Arg174His) g.128356754C>T Copied from the Exome Variant Server RPN1_000072 1/13006 1/8600 0/4406
?/? c.539G>A r.(?) p.(Arg180Gln) g.128356736C>T Copied from the Exome Variant Server RPN1_000071 8/13006 2/8600 6/4406
?/? c.558C>T r.(=) p.(=) g.128356717G>A Copied from the Exome Variant Server RPN1_000070 7/13006 0/8600 7/4406
?/? c.576G>A r.(=) p.(=) g.128356699C>T Copied from the Exome Variant Server RPN1_000069 77/13006 1/8600 76/4406
?/? c.577C>T r.(?) p.(Arg193Cys) g.128356698G>A Copied from the Exome Variant Server RPN1_000068 1/13006 1/8600 0/4406
?/? c.578G>A r.(?) p.(Arg193His) g.128356697C>T Copied from the Exome Variant Server RPN1_000067 3/13006 3/8600 0/4406
?/? c.609C>G r.(?) p.(Phe203Leu) g.128356666G>C Copied from the Exome Variant Server RPN1_000066 59/13006 0/8600 59/4406
?/? c.633+4A>G r.spl? p.? g.128356638T>C Copied from the Exome Variant Server RPN1_000065 4/13006 3/8600 1/4406
?/? c.633+6C>T r.(=) p.(=) g.128356636G>A Copied from the Exome Variant Server RPN1_000064 79/13006 71/8600 8/4406
?/? c.633+16G>T r.(=) p.(=) g.128356626C>A Copied from the Exome Variant Server RPN1_000063 6/13006 0/8600 6/4406
?/? c.634-20_634-17del r.(=) p.(=) g.128351017_128351020del Copied from the Exome Variant Server RPN1_000062 1/12520 1/8254 0/4266
?/? c.712C>T r.(?) p.(His238Tyr) g.128350922G>A Copied from the Exome Variant Server RPN1_000061 4/13006 2/8600 2/4406
?/? c.714C>T r.(=) p.(=) g.128350920G>A Copied from the Exome Variant Server RPN1_000060 1/13006 0/8600 1/4406
?/? c.732G>A r.(=) p.(=) g.128350902C>T Copied from the Exome Variant Server RPN1_000059 1/13006 1/8600 0/4406
?/? c.752A>G r.(?) p.(Lys251Arg) g.128350882T>C Copied from the Exome Variant Server RPN1_000058 1/13006 1/8600 0/4406
?/? c.757A>C r.(?) p.(Thr253Pro) g.128350877T>G Copied from the Exome Variant Server RPN1_000057 4/13006 4/8600 0/4406
?/? c.767_768del r.(?) p.(Val256Alafs*2) g.128350866_128350867del Copied from the Exome Variant Server RPN1_000056 47/12520 33/8254 14/4266
?/? c.824C>T r.(?) p.(Ser275Phe) g.128350810G>A Copied from the Exome Variant Server RPN1_000055 1/13006 1/8600 0/4406
?/? c.836C>T r.(?) p.(Ser279Phe) g.128350798G>A Copied from the Exome Variant Server RPN1_000054 1/13006 0/8600 1/4406
?/? c.843+23A>G r.(=) p.(=) g.128350768T>C Copied from the Exome Variant Server RPN1_000053 357/13006 325/8600 32/4406
?/? c.844-18A>G r.(=) p.(=) g.128349004T>C Copied from the Exome Variant Server RPN1_000052 33/13006 0/8600 33/4406
?/? c.844-14C>T r.(=) p.(=) g.128349000G>A Copied from the Exome Variant Server RPN1_000051 1/13006 0/8600 1/4406
?/? c.844-13C>T r.(=) p.(=) g.128348999G>A Copied from the Exome Variant Server RPN1_000050 6/13006 2/8600 4/4406
?/? c.896A>G r.(?) p.(Asn299Ser) g.128348934T>C Copied from the Exome Variant Server RPN1_000049 1/13006 1/8600 0/4406
?/? c.918T>C r.(=) p.(=) g.128348912A>G Copied from the Exome Variant Server RPN1_000048 2/13006 2/8600 0/4406
?/? c.1037-45T>C r.(=) p.(=) g.128345720A>G Copied from the Exome Variant Server RPN1_000047 1/13006 1/8600 0/4406
?/? c.1037-40C>T r.(=) p.(=) g.128345715G>A Copied from the Exome Variant Server RPN1_000046 14/13006 0/8600 14/4406
?/? c.1037-39G>A r.(=) p.(=) g.128345714C>T Copied from the Exome Variant Server RPN1_000045 1/13006 1/8600 0/4406
?/? c.1136+9G>A r.(=) p.(=) g.128345567C>T Copied from the Exome Variant Server RPN1_000044 1/13006 1/8600 0/4406
?/? c.1136+22C>T r.(=) p.(=) g.128345554G>A Copied from the Exome Variant Server RPN1_000043 1/13006 0/8600 1/4406
?/? c.1137-49T>C r.(=) p.(=) g.128344904A>G Copied from the Exome Variant Server RPN1_000041 3/13006 3/8600 0/4406
?/? c.1137-39G>C r.(=) p.(=) g.128344894C>G Copied from the Exome Variant Server RPN1_000039 85/13006 1/8600 84/4406
?/? c.1137-34T>A r.(=) p.(=) g.128344889A>T Copied from the Exome Variant Server RPN1_000037 1/13006 1/8600 0/4406
?/? c.1171C>T r.(?) p.(Arg391Cys) g.128344821G>A Copied from the Exome Variant Server RPN1_000035 1/13006 1/8600 0/4406
?/? c.1172G>A r.(?) p.(Arg391His) g.128344820C>T Copied from the Exome Variant Server RPN1_000033 24/13006 22/8600 2/4406
?/? c.1206C>T r.(=) p.(=) g.128344786G>A Copied from the Exome Variant Server RPN1_000042 2577/13006 1950/8600 627/4406
?/? c.1217G>A r.(?) p.(Arg406His) g.128344775C>T Copied from the Exome Variant Server RPN1_000040 1/13006 1/8600 0/4406
?/? c.1227T>C r.(=) p.(=) g.128344765A>G Copied from the Exome Variant Server RPN1_000038 8/13006 0/8600 8/4406
?/? c.1266G>A r.(=) p.(=) g.128344726C>T Copied from the Exome Variant Server RPN1_000036 2/13006 2/8600 0/4406
?/? c.1276-16C>T r.(=) p.(=) g.128344512G>A Copied from the Exome Variant Server RPN1_000034 2/13006 2/8600 0/4406
?/? c.1276-14_1276-13del r.(=) p.(=) g.128344509_128344510del Copied from the Exome Variant Server RPN1_000032 7/12520 6/8254 1/4266
?/? c.1332G>A r.(=) p.(=) g.128344440C>T Copied from the Exome Variant Server RPN1_000031 2/13006 2/8600 0/4406
?/? c.1341C>T r.(=) p.(=) g.128344431G>A Copied from the Exome Variant Server RPN1_000030 1/13006 0/8600 1/4406
?/? c.1350C>G r.(?) p.(Phe450Leu) g.128344422G>C Copied from the Exome Variant Server RPN1_000029 2/13006 0/8600 2/4406
?/? c.1357G>A r.(?) p.(Val453Ile) g.128344415C>T Copied from the Exome Variant Server RPN1_000028 16/13006 14/8600 2/4406
?/? c.1375C>T r.(=) p.(=) g.128344397G>A Copied from the Exome Variant Server RPN1_000027 1/13006 0/8600 1/4406
?/? c.1394A>G r.(?) p.(Lys465Arg) g.128344378T>C Copied from the Exome Variant Server RPN1_000026 75/13006 1/8600 74/4406
?/? c.1395+6G>A r.(=) p.(=) g.128344371C>T Copied from the Exome Variant Server RPN1_000025 1/13006 1/8600 0/4406
?/? c.1395+14C>G r.(=) p.(=) g.128344363G>C Copied from the Exome Variant Server RPN1_000024 1/13006 1/8600 0/4406
?/? c.1395+19T>C r.(=) p.(=) g.128344358A>G Copied from the Exome Variant Server RPN1_000023 2/13006 1/8600 1/4406
?/? c.1396-36G>A r.(=) p.(=) g.128341288C>T Copied from the Exome Variant Server RPN1_000022 1/13006 1/8600 0/4406
?/? c.1484A>T r.(?) p.(His495Leu) g.128341164T>A Copied from the Exome Variant Server RPN1_000021 2/13006 0/8600 2/4406
?/? c.1502A>G r.(?) p.(Asn501Ser) g.128341146T>C Copied from the Exome Variant Server RPN1_000020 5/13006 0/8600 5/4406
?/? c.1543G>A r.(?) p.(Gly515Ser) g.128341105C>T Copied from the Exome Variant Server RPN1_000019 2/13006 0/8600 2/4406
?/? c.1544G>A r.(?) p.(Gly515Asp) g.128341104C>T Copied from the Exome Variant Server RPN1_000018 1/13006 1/8600 0/4406
?/? c.1563T>G r.(=) p.(=) g.128341085A>C Copied from the Exome Variant Server RPN1_000017 1/13006 0/8600 1/4406
?/? c.1573G>C r.(?) p.(Ala525Pro) g.128341075C>G Copied from the Exome Variant Server RPN1_000016 1/13006 1/8600 0/4406
?/? c.1635C>T r.(=) p.(=) g.128341013G>A Copied from the Exome Variant Server RPN1_000015 2/13006 1/8600 1/4406
?/? c.1641+8T>A r.(=) p.(=) g.128340999A>T Copied from the Exome Variant Server RPN1_000014 2/13006 0/8600 2/4406
?/? c.1641+9C>T r.(=) p.(=) g.128340998G>A Copied from the Exome Variant Server RPN1_000013 4/13006 2/8600 2/4406
?/? c.1641+14G>A r.(=) p.(=) g.128340993C>T Copied from the Exome Variant Server RPN1_000012 93/13006 82/8600 11/4406
?/? c.1641+17_1641+18insA r.(=) p.(=) g.128340989_128340990insT Copied from the Exome Variant Server RPN1_000011 1/12520 1/8254 0/4266
?/? c.1641+47C>G r.(=) p.(=) g.128340960G>C Copied from the Exome Variant Server RPN1_000010 1/13006 0/8600 1/4406
?/? c.1642-51G>A r.(=) p.(=) g.128339487C>T Copied from the Exome Variant Server RPN1_000009 2/13006 0/8600 2/4406
?/? c.1642-7C>T r.(=) p.(=) g.128339443G>A Copied from the Exome Variant Server RPN1_000008 1/13006 0/8600 1/4406
?/? c.1647C>T r.(=) p.(=) g.128339431G>A Copied from the Exome Variant Server RPN1_000007 208/13006 2/8600 206/4406
?/? c.1689G>A r.(=) p.(=) g.128339389C>T Copied from the Exome Variant Server RPN1_000006 4/13006 0/8600 4/4406
?/? c.1743G>A r.(=) p.(=) g.128339335C>T Copied from the Exome Variant Server RPN1_000005 1/13006 0/8600 1/4406
?/? c.1800C>T r.(=) p.(=) g.128339278G>A Copied from the Exome Variant Server RPN1_000004 2/13006 2/8600 0/4406
?/? c.*10G>A r.(=) p.(=) g.128339244C>T Copied from the Exome Variant Server RPN1_000003 1/13006 1/8600 0/4406
?/? c.*31G>T r.(=) p.(=) g.128339223C>A Copied from the Exome Variant Server RPN1_000002 1/13006 1/8600 0/4406
?/? c.*44G>C r.(=) p.(=) g.128339210C>G Copied from the Exome Variant Server RPN1_000001 177/13006 0/8600 177/4406
Legend