基因名 |
突变 |
TTL(NM_153712,tubulin tyrosine ligase,377aa) |
g.2:113251880G>A,c.397G>A,p.A133T |
TTL(NM_153712,tubulin tyrosine ligase,377aa) |
g.2:113251800A>G,c.317A>G,p.K106R |
TTLL9(NM_001008409,tubulin tyrosine ligase-like family, member 9,439aa) |
g.20:30530824A>C,c.1320A>C,p.X440C |
TTLL9(NM_001008409,tubulin tyrosine ligase-like family, member 9,439aa) |
g.20:30530763G>A,c.1259G>A,p.R420Q |
TTLL9(NM_001008409,tubulin tyrosine ligase-like family, member 9,439aa) |
g.20:30522648G>A,c.961G>A,p.E321K |
TTLL9(NM_001008409,tubulin tyrosine ligase-like family, member 9,439aa) |
g.20:30522582G>A,c.895G>A,p.D299N |
TTLL9(NM_001008409,tubulin tyrosine ligase-like family, member 9,439aa) |
g.20:30522508C>T,c.821C>T,p.T274M |
TTLL9(NM_001008409,tubulin tyrosine ligase-like family, member 9,439aa) |
g.20:30510832A>C,c.640A>C,p.I214L |
TTLL9(NM_001008409,tubulin tyrosine ligase-like family, member 9,439aa) |
g.20:30507703C>T,c.541C>T,p.R181C |
TTLL9(NM_001008409,tubulin tyrosine ligase-like family, member 9,439aa) |
g.20:30507689G>A,c.527G>A,p.G176D |
TTLL9(NM_001008409,tubulin tyrosine ligase-like family, member 9,439aa) |
g.20:30507679C>G,c.517C>G,p.Q173E |
TTLL9(NM_001008409,tubulin tyrosine ligase-like family, member 9,439aa) |
g.20:30497577G>A,c.356G>A,p.R119Q |
TTLL9(NM_001008409,tubulin tyrosine ligase-like family, member 9,439aa) |
g.20:30497547G>A,c.326G>A,p.R109Q |
TTLL9(NM_001008409,tubulin tyrosine ligase-like family, member 9,439aa) |
g.20:30496425G>A,c.238G>A,p.V80I |
TTLL9(NM_001008409,tubulin tyrosine ligase-like family, member 9,439aa) |
g.20:30496419T>C,c.232T>C,p.C78R |
TTLL9(NM_001008409,tubulin tyrosine ligase-like family, member 9,439aa) |
g.20:30496398G>A,c.211G>A,p.G71R |
TTLL7(NM_024686,tubulin tyrosine ligase-like family, member 7,887aa) |
g.1:84417585T>C,c.100A>G,p.K34E |
TTLL7(NM_024686,tubulin tyrosine ligase-like family, member 7,887aa) |
g.1:84373312A>T,c.1819T>A,p.S607T |
TTLL7(NM_024686,tubulin tyrosine ligase-like family, member 7,887aa) |
g.1:84373309T>C,c.1822A>G,p.I608V |
TTLL7(NM_024686,tubulin tyrosine ligase-like family, member 7,887aa) |
g.1:84356137G>A,c.2236C>T,p.R746C |
TTLL7(NM_024686,tubulin tyrosine ligase-like family, member 7,887aa) |
g.1:84348787G>A,c.2402C>T,p.P801L |
TTLL6(NM_001130918,tubulin tyrosine ligase-like family, member 6,891aa) |
g.17:46894377A>C,c.58T>G,p.W20G |
TTLL6(NM_001130918,tubulin tyrosine ligase-like family, member 6,891aa) |
g.17:46894356G>A,c.79C>T,p.R27X |
TTLL6(NM_001130918,tubulin tyrosine ligase-like family, member 6,891aa) |
g.17:46881264C>T,c.350G>A,p.R117Q |
TTLL6(NM_001130918,tubulin tyrosine ligase-like family, member 6,891aa) |
g.17:46878958C>T,c.409G>A,p.D137N |
TTLL6(NM_001130918,tubulin tyrosine ligase-like family, member 6,891aa) |
g.17:46878711G>A,c.517C>T,p.R173W |
TTLL6(NM_001130918,tubulin tyrosine ligase-like family, member 6,891aa) |
g.17:46877063G>A,c.671C>T,p.P224L |
TTLL6(NM_001130918,tubulin tyrosine ligase-like family, member 6,891aa) |
g.17:46874442C>T,c.893G>A,p.R298H |