| 基因名 | 突变 |
|---|---|
| TTLL13(NM_001029964,tubulin tyrosine ligase-like family, member 13,459aa) | g.15:90794098G>A,c.236G>A,p.R79K |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43583051G>A,c.25C>T,p.R9C |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43579083G>A,c.250C>T,p.R84W |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43579049T>C,c.284A>G,p.N95S |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43576914C>T,c.380G>A,p.R127H |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43576831C>G,c.463G>C,p.G155R |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43575957G>A,c.596C>T,p.S199L |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43575954C>T,c.599G>A,p.R200Q |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43575747G>C,c.718C>G,p.R240G |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43572362A>G,c.881T>C,p.I294T |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43572356G>C,c.887C>G,p.P296R |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43572354C>T,c.889G>A,p.V297M |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43570583G>A,c.956C>T,p.T319I |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43570550G>A,c.989C>T,p.A330V |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43569743C>T,c.1319G>A,p.R440Q |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43568512C>T,c.1390G>A,p.V464M |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43568494C>T,c.1408G>A,p.D470N |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43568439T>C,c.1463A>G,p.Y488C |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43565511C>T,c.1639G>A,p.V547I |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43564807T>C,c.1756A>G,p.M586V |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43564076C>T,c.1873G>A,p.D625N |
| TTLL12(NM_015140,tubulin tyrosine ligase-like family, member 12,644aa) | g.22:43564050G>C,c.1899C>G,p.D633E |
| TTLL11(NM_001139442,tubulin tyrosine ligase-like family, member 11,800aa) | g.9:124855390C>A,c.308G>T,p.R103L |
| TTLL11(NM_001139442,tubulin tyrosine ligase-like family, member 11,800aa) | g.9:124855337C>T,c.361G>A,p.E121K |
| TTLL11(NM_001139442,tubulin tyrosine ligase-like family, member 11,800aa) | g.9:124855330_124855331insTGGCCT,c.367_368insAGGCCA,p.123ins2aa |
| TTLL11(NM_001139442,tubulin tyrosine ligase-like family, member 11,800aa) | g.9:124855211C>T,c.487G>A,p.A163T |
| TTLL11(NM_001139442,tubulin tyrosine ligase-like family, member 11,800aa) | g.9:124855081G>A,c.617C>T,p.S206L |
| TTLL11(NM_001139442,tubulin tyrosine ligase-like family, member 11,800aa) | g.9:124794099C>T,c.866G>A,p.R289K |