基因名 |
突变 |
USPL1(NM_005800,ubiquitin specific peptidase like 1,1092aa) |
g.13:31231778G>C,c.1564G>C,p.A522P |
USPL1(NM_005800,ubiquitin specific peptidase like 1,1092aa) |
g.13:31221106C>T,c.1150C>T,p.P384S |
USPL1(NM_005800,ubiquitin specific peptidase like 1,1092aa) |
g.13:31211922A>G,c.910A>G,p.I304V |
USPL1(NM_005800,ubiquitin specific peptidase like 1,1092aa) |
g.13:31211902C>G,c.890C>G,p.T297S |
USPL1(NM_005800,ubiquitin specific peptidase like 1,1092aa) |
g.13:31205536A>C,c.793A>C,p.I265L |
USP9Y(NM_004654,ubiquitin specific peptidase 9, Y-linked,2555aa) |
g.Y:14898163G>A,c.3178G>A,p.A1060T |
USP9Y(NM_004654,ubiquitin specific peptidase 9, Y-linked,2555aa) |
g.Y:14851538T>A,c.1397T>A,p.L466H |
USP9Y(NM_004654,ubiquitin specific peptidase 9, Y-linked,2555aa) |
g.Y:14851526C>G,c.1385C>G,p.S462C |
USP9Y(NM_004654,ubiquitin specific peptidase 9, Y-linked,2555aa) |
g.Y:14848448G>C,c.1129G>C,p.E377Q |
USP9Y(NM_004654,ubiquitin specific peptidase 9, Y-linked,2555aa) |
g.Y:14832620G>T,c.195G>T,p.E65D |
USP9X(NM_001039590,ubiquitin specific peptidase 9, X-linked,2570aa) |
g.X:41055921A>G,c.4163A>G,p.N1388S |
USP9X(NM_001039590,ubiquitin specific peptidase 9, X-linked,2570aa) |
g.X:41029345A>G,c.2734A>G,p.I912V |
USP9X(NM_001039590,ubiquitin specific peptidase 9, X-linked,2570aa) |
g.X:40994033A>G,c.378A>G,p.I126M |
USP9X(NM_001039590,ubiquitin specific peptidase 9, X-linked,2570aa) |
g.X:40990771A>G,c.304A>G,p.I102V |
USP8(NM_001128611,ubiquitin specific peptidase 8,1118aa) |
g.15:50791205G>A,c.3277G>A,p.V1093I |
USP8(NM_001128611,ubiquitin specific peptidase 8,1118aa) |
g.15:50789347G>A,c.2957G>A,p.S986N |
USP8(NM_001128611,ubiquitin specific peptidase 8,1118aa) |
g.15:50789323C>T,c.2933C>T,p.T978I |
USP8(NM_001128611,ubiquitin specific peptidase 8,1118aa) |
g.15:50789311A>G,c.2921A>G,p.E974G |
USP8(NM_001128611,ubiquitin specific peptidase 8,1118aa) |
g.15:50784990T>C,c.2327T>C,p.L776P |
USP8(NM_001128611,ubiquitin specific peptidase 8,1118aa) |
g.15:50784955C>A,c.2292C>A,p.N764K |
USP8(NM_001128611,ubiquitin specific peptidase 8,1118aa) |
g.15:50784950C>T,c.2287C>T,p.R763W |
USP8(NM_001128611,ubiquitin specific peptidase 8,1118aa) |
g.15:50782703A>G,c.2215A>G,p.T739A |
USP8(NM_001128611,ubiquitin specific peptidase 8,1118aa) |
g.15:50773787A>G,c.1328A>G,p.D443G |
USP8(NM_001128611,ubiquitin specific peptidase 8,1118aa) |
g.15:50769520G>A,c.1042G>A,p.A348T |
USP8(NM_001128611,ubiquitin specific peptidase 8,1118aa) |
g.15:50769184A>G,c.988A>G,p.I330V |
USP8(NM_001128611,ubiquitin specific peptidase 8,1118aa) |
g.15:50769082G>A,c.886G>A,p.V296I |
USP8(NM_001128611,ubiquitin specific peptidase 8,1118aa) |
g.15:50763945T>A,c.802T>A,p.L268I |
USP8(NM_001128611,ubiquitin specific peptidase 8,1118aa) |
g.15:50757273A>G,c.571A>G,p.M191V |