基因名 |
突变 |
UBR4(NM_020765,ubiquitin protein ligase E3 component n-recognin 4,5183aa) |
g.1:19407871G>A,c.15205C>T,p.R5069W |
UBR4(NM_020765,ubiquitin protein ligase E3 component n-recognin 4,5183aa) |
g.1:19404544C>T,c.15250G>A,p.V5084M |
UBR4(NM_020765,ubiquitin protein ligase E3 component n-recognin 4,5183aa) |
g.1:19403234C>T,c.15487G>A,p.G5163S |
UBR4(NM_020765,ubiquitin protein ligase E3 component n-recognin 4,5183aa) |
g.1:19401382A>T,c.15496T>A,p.S5166T |
UBR3(NM_172070,ubiquitin protein ligase E3 component n-recognin 3 (putative),1888aa) |
g.2:170936412_170936413insA,c.5288_5289insA,p.1763fs |
UBR3(NM_172070,ubiquitin protein ligase E3 component n-recognin 3 (putative),1888aa) |
g.2:170897489C>T,c.4654C>T,p.R1552C |
UBR3(NM_172070,ubiquitin protein ligase E3 component n-recognin 3 (putative),1888aa) |
g.2:170885930C>A,c.4528C>A,p.L1510I |
UBR3(NM_172070,ubiquitin protein ligase E3 component n-recognin 3 (putative),1888aa) |
g.2:170857923G>A,c.4028G>A,p.R1343Q |
UBR3(NM_172070,ubiquitin protein ligase E3 component n-recognin 3 (putative),1888aa) |
g.2:170806440G>T,c.3410G>T,p.R1137I |
UBR3(NM_172070,ubiquitin protein ligase E3 component n-recognin 3 (putative),1888aa) |
g.2:170804208A>G,c.3067A>G,p.N1023D |
UBR3(NM_172070,ubiquitin protein ligase E3 component n-recognin 3 (putative),1888aa) |
g.2:170732420G>A,c.805G>A,p.V269I |
UBR3(NM_172070,ubiquitin protein ligase E3 component n-recognin 3 (putative),1888aa) |
g.2:170728840A>G,c.640A>G,p.I214V |
UBR2(NM_015255,ubiquitin protein ligase E3 component n-recognin 2,1755aa) |
g.6:42643908A>G,c.4366A>G,p.I1456V |
UBR2(NM_015255,ubiquitin protein ligase E3 component n-recognin 2,1755aa) |
g.6:42643860G>A,c.4318G>A,p.G1440R |
UBR2(NM_015255,ubiquitin protein ligase E3 component n-recognin 2,1755aa) |
g.6:42633977G>A,c.3875G>A,p.R1292H |
UBR2(NM_015255,ubiquitin protein ligase E3 component n-recognin 2,1755aa) |
g.6:42627434G>A,c.3283G>A,p.A1095T |
UBR2(NM_015255,ubiquitin protein ligase E3 component n-recognin 2,1755aa) |
g.6:42626564_42626565insA,c.3242+2insA,p.1081Donorins |
UBR2(NM_015255,ubiquitin protein ligase E3 component n-recognin 2,1755aa) |
g.6:42620315A>C,c.2701A>C,p.M901L |
UBR2(NM_015255,ubiquitin protein ligase E3 component n-recognin 2,1755aa) |
g.6:42610184C>T,c.2062C>T,p.R688C |
UBR2(NM_015255,ubiquitin protein ligase E3 component n-recognin 2,1755aa) |
g.6:42609352C>A,c.1953C>A,p.H651Q |
UBR2(NM_015255,ubiquitin protein ligase E3 component n-recognin 2,1755aa) |
g.6:42604917T>C,c.1843T>C,p.S615P |
UBR2(NM_015255,ubiquitin protein ligase E3 component n-recognin 2,1755aa) |
g.6:42582818G>A,c.995G>A,p.R332H |
UBR2(NM_015255,ubiquitin protein ligase E3 component n-recognin 2,1755aa) |
g.6:42579963A>G,c.919A>G,p.I307V |
UBR2(NM_015255,ubiquitin protein ligase E3 component n-recognin 2,1755aa) |
g.6:42571338C>A,c.544C>A,p.H182N |
UBR2(NM_015255,ubiquitin protein ligase E3 component n-recognin 2,1755aa) |
g.6:42562027A>T,c.516A>T,p.E172D |
UBR2(NM_015255,ubiquitin protein ligase E3 component n-recognin 2,1755aa) |
g.6:42559926G>A,c.376G>A,p.E126K |
UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) |
g.15:43374843C>T,c.410G>A,p.R137H |
UBR1(NM_174916,ubiquitin protein ligase E3 component n-recognin 1,1749aa) |
g.15:43363048C>T,c.604G>A,p.V202I |