基因名 |
突变 |
TRAPPC6A(NM_024108,trafficking protein particle complex 6A,173aa) |
g.19:45667239C>T,c.425G>A,p.R142H |
TRAPPC6A(NM_024108,trafficking protein particle complex 6A,173aa) |
g.19:45667207C>T,c.457G>A,p.V153M |
TRAPPC5(NM_174894,trafficking protein particle complex 5,188aa) |
g.19:7747293T>G,c.154T>G,p.S52A |
TRAPPC4(NM_016146,trafficking protein particle complex 4,219aa) |
g.11:118890930A>G,c.421A>G,p.T141A |
TRAPPC3(NM_001270896,trafficking protein particle complex 3,134aa) |
g.1:36602826T>C,c.383A>G,p.N128S |
TRAPPC3L(NM_001139444,trafficking protein particle complex 3-like,181aa) |
g.6:116866658C>T,c.20G>A,p.R7Q |
TRAPPC3L(NM_001139444,trafficking protein particle complex 3-like,181aa) |
g.6:116821709C>T,c.361G>A,p.A121T |
TRAPPC2L(NM_016209,trafficking protein particle complex 2-like,140aa) |
g.16:88926370A>T,c.364A>T,p.I122F |
TRAPPC2L(NM_016209,trafficking protein particle complex 2-like,140aa) |
g.16:88926367C>T,c.361C>T,p.R121C |
TRAPPC2L(NM_016209,trafficking protein particle complex 2-like,140aa) |
g.16:88926339G>A,c.333G>A,p.M111I |
TRAPPC2L(NM_016209,trafficking protein particle complex 2-like,140aa) |
g.16:88926138C>T,c.274C>T,p.R92X |
TRAPPC2L(NM_016209,trafficking protein particle complex 2-like,140aa) |
g.16:88925112A>G,c.119A>G,p.D40G |
TRAPPC2L(NM_016209,trafficking protein particle complex 2-like,140aa) |
g.16:88925058C>T,c.65C>T,p.T22M |
TRAPPC13(NM_001093755,trafficking protein particle complex 13,418aa) |
g.5:64960394G>A,c.1213G>A,p.A405T |
TRAPPC13(NM_001093755,trafficking protein particle complex 13,418aa) |
g.5:64956563A>G,c.736A>G,p.M246V |
TRAPPC13(NM_001093755,trafficking protein particle complex 13,418aa) |
g.5:64956557C>A,c.730C>A,p.Q244K |
TRAPPC12(NM_016030,trafficking protein particle complex 12,735aa) |
g.2:3482618G>A,c.1879G>A,p.A627T |
TRAPPC12(NM_016030,trafficking protein particle complex 12,735aa) |
g.2:3447577T>C,c.1445T>C,p.I482T |
TRAPPC12(NM_016030,trafficking protein particle complex 12,735aa) |
g.2:3405623G>T,c.1123G>T,p.D375Y |
TRAPPC12(NM_016030,trafficking protein particle complex 12,735aa) |
g.2:3405593G>A,c.1093G>A,p.A365T |
TRAPPC12(NM_016030,trafficking protein particle complex 12,735aa) |
g.2:3392377G>A,c.983G>A,p.R328H |
TRAPPC12(NM_016030,trafficking protein particle complex 12,735aa) |
g.2:3392295A>G,c.901A>G,p.S301G |
TRAPPC12(NM_016030,trafficking protein particle complex 12,735aa) |
g.2:3392292A>G,c.898A>G,p.M300V |
TRAPPC12(NM_016030,trafficking protein particle complex 12,735aa) |
g.2:3392127C>T,c.733C>T,p.P245S |
TRAPPC12(NM_016030,trafficking protein particle complex 12,735aa) |
g.2:3392005C>T,c.611C>T,p.P204L |
TRAPPC12(NM_016030,trafficking protein particle complex 12,735aa) |
g.2:3392003C>A,c.609C>A,p.S203R |
TRAPPC12(NM_016030,trafficking protein particle complex 12,735aa) |
g.2:3391539G>A,c.145G>A,p.E49K |
TRAPPC12(NM_016030,trafficking protein particle complex 12,735aa) |
g.2:3391458G>A,c.64G>A,p.A22T |