基因名 |
突变 |
TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) |
g.2:219602499G>C,c.100G>C,p.E34Q |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9876919G>A,c.2494G>A,p.A832T |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9876568C>T,c.2329C>T,p.P777S |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9876545C>T,c.2306C>T,p.P769L |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9874917G>A,c.2113G>A,p.G705S |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9874914C>T,c.2110C>T,p.R704X |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9871030T>G,c.1934T>G,p.M645R |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9870978C>T,c.1882C>T,p.R628W |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9870862G>A,c.1766G>A,p.R589Q |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9870777A>C,c.1681A>C,p.N561H |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9870715C>T,c.1619C>T,p.P540L |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9868894C>T,c.1517C>T,p.T506M |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9868869C>T,c.1492C>T,p.R498C |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9868737G>A,c.1360G>A,p.V454M |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9862346G>A,c.1075G>A,p.D359N |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9860595G>A,c.949G>A,p.E317K |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9859364G>A,c.780G>A,p.W260X |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9854982G>A,c.697G>A,p.D233N |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9854952G>A,c.667G>A,p.E223K |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9854630A>C,c.481A>C,p.K161Q |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9852059_9852060insGAT,c.369_370insGAT,p.123_124ins1aa |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9852040C>T,c.350C>T,p.P117L |
TTLL3(NM_001025930,tubulin tyrosine ligase-like family, member 3,915aa) |
g.3:9851818T>C,c.128T>C,p.L43P |
TTLL2(NM_031949,tubulin tyrosine ligase-like family, member 2,592aa) |
g.6:167755148T>C,c.1760T>C,p.M587T |
TTLL2(NM_031949,tubulin tyrosine ligase-like family, member 2,592aa) |
g.6:167755063G>A,c.1675G>A,p.V559I |
TTLL2(NM_031949,tubulin tyrosine ligase-like family, member 2,592aa) |
g.6:167755021C>T,c.1633C>T,p.R545C |
TTLL2(NM_031949,tubulin tyrosine ligase-like family, member 2,592aa) |
g.6:167754975G>T,c.1587G>T,p.Q529H |
TTLL2(NM_031949,tubulin tyrosine ligase-like family, member 2,592aa) |
g.6:167754787G>A,c.1399G>A,p.E467K |