基因名 |
突变 |
AFAP1L1(NM_152406,actin filament associated protein 1-like 1,768aa) |
g.5:148712369G>A,c.2087G>A,p.R696H |
AFAP1L1(NM_152406,actin filament associated protein 1-like 1,768aa) |
g.5:148712330G>A,c.2048G>A,p.R683Q |
AFAP1L1(NM_152406,actin filament associated protein 1-like 1,768aa) |
g.5:148702241C>A,c.1771C>A,p.R591S |
AFAP1L1(NM_152406,actin filament associated protein 1-like 1,768aa) |
g.5:148702181G>A,c.1711G>A,p.E571K |
AFAP1L1(NM_152406,actin filament associated protein 1-like 1,768aa) |
g.5:148697448G>A,c.1424G>A,p.R475Q |
AFAP1L1(NM_152406,actin filament associated protein 1-like 1,768aa) |
g.5:148695825A>T,c.1226A>T,p.D409V |
AFAP1L1(NM_152406,actin filament associated protein 1-like 1,768aa) |
g.5:148691762G>C,c.1015G>C,p.D339H |
AFAP1L1(NM_152406,actin filament associated protein 1-like 1,768aa) |
g.5:148689673G>A,c.902G>A,p.R301Q |
AFAP1L1(NM_152406,actin filament associated protein 1-like 1,768aa) |
g.5:148689635del,c.864del,p.288fs |
AFAP1L1(NM_152406,actin filament associated protein 1-like 1,768aa) |
g.5:148687124G>A,c.695G>A,p.R232H |
AFAP1L1(NM_152406,actin filament associated protein 1-like 1,768aa) |
g.5:148687064A>G,c.635A>G,p.E212G |
AFAP1L1(NM_152406,actin filament associated protein 1-like 1,768aa) |
g.5:148687006G>A,c.577G>A,p.D193N |
AFAP1L1(NM_152406,actin filament associated protein 1-like 1,768aa) |
g.5:148685916G>A,c.484G>A,p.A162T |
AFAP1L1(NM_152406,actin filament associated protein 1-like 1,768aa) |
g.5:148682015C>T,c.362C>T,p.P121L |
AFAP1L1(NM_152406,actin filament associated protein 1-like 1,768aa) |
g.5:148682000C>T,c.347C>T,p.P116L |
AFAP1L1(NM_152406,actin filament associated protein 1-like 1,768aa) |
g.5:148680777G>A,c.311G>A,p.S104N |
AFAP1L1(NM_152406,actin filament associated protein 1-like 1,768aa) |
g.5:148680717G>A,c.251G>A,p.R84Q |
AES(NM_198969,amino-terminal enhancer of split,264aa) |
g.19:3062898C>G,c.28G>C,p.E10Q |
AEN(NM_022767,apoptosis enhancing nuclease,325aa) |
g.15:89173403G>A,c.856G>A,p.E286K |
AEN(NM_022767,apoptosis enhancing nuclease,325aa) |
g.15:89173398G>A,c.851G>A,p.C284Y |
AEN(NM_022767,apoptosis enhancing nuclease,325aa) |
g.15:89173292G>A,c.745G>A,p.G249S |
AEN(NM_022767,apoptosis enhancing nuclease,325aa) |
g.15:89169954G>C,c.514G>C,p.V172L |
AEN(NM_022767,apoptosis enhancing nuclease,325aa) |
g.15:89169934G>A,c.494G>A,p.R165Q |
AEN(NM_022767,apoptosis enhancing nuclease,325aa) |
g.15:89169858A>G,c.418A>G,p.N140D |
AEN(NM_022767,apoptosis enhancing nuclease,325aa) |
g.15:89169738G>A,c.298G>A,p.G100R |
AEN(NM_022767,apoptosis enhancing nuclease,325aa) |
g.15:89169705G>A,c.265G>A,p.G89S |
AEN(NM_022767,apoptosis enhancing nuclease,325aa) |
g.15:89169703C>G,c.263C>G,p.S88C |
AEN(NM_022767,apoptosis enhancing nuclease,325aa) |
g.15:89169484C>T,c.44C>T,p.P15L |