基因名 |
突变 |
TULP1(NM_003322,tubby like protein 1,542aa) |
g.6:35467767C>T,c.1486G>A,p.A496T |
TUFT1(NM_020127,tuftelin 1,390aa) |
g.1:151554137C>T,c.1127C>T,p.P376L |
TUFT1(NM_020127,tuftelin 1,390aa) |
g.1:151553493C>T,c.1084C>T,p.R362W |
TUFT1(NM_020127,tuftelin 1,390aa) |
g.1:151551265A>G,c.887A>G,p.K296R |
TUFT1(NM_020127,tuftelin 1,390aa) |
g.1:151546816T>C,c.665T>C,p.V222A |
TUFT1(NM_020127,tuftelin 1,390aa) |
g.1:151542176C>T,c.524C>T,p.T175M |
TUFT1(NM_020127,tuftelin 1,390aa) |
g.1:151542140C>T,c.488C>T,p.T163I |
TUFT1(NM_020127,tuftelin 1,390aa) |
g.1:151512895A>G,c.53A>G,p.Q18R |
TUFM(NM_003321,Tu translation elongation factor, mitochondrial,455aa) |
g.16:28857367G>A,c.113C>T,p.A38V |
TUFM(NM_003321,Tu translation elongation factor, mitochondrial,455aa) |
g.16:28855623G>A,c.850C>T,p.R284C |
TUB(NM_003320,tubby bipartite transcription factor,561aa) |
g.11:8123143G>A,c.1663G>A,p.D555N |
TUB(NM_003320,tubby bipartite transcription factor,561aa) |
g.11:8123060G>A,c.1580G>A,p.R527Q |
TUB(NM_003320,tubby bipartite transcription factor,561aa) |
g.11:8122147A>G,c.1379A>G,p.N460S |
TUB(NM_003320,tubby bipartite transcription factor,561aa) |
g.11:8122144G>A,c.1376G>A,p.R459H |
TUB(NM_003320,tubby bipartite transcription factor,561aa) |
g.11:8122143C>T,c.1375C>T,p.R459C |
TUB(NM_003320,tubby bipartite transcription factor,561aa) |
g.11:8122059G>A,c.1291G>A,p.V431I |
TUB(NM_003320,tubby bipartite transcription factor,561aa) |
g.11:8119298A>G,c.1088A>G,p.K363R |
TUB(NM_003320,tubby bipartite transcription factor,561aa) |
g.11:8118823G>A,c.901G>A,p.V301I |
TUB(NM_003320,tubby bipartite transcription factor,561aa) |
g.11:8115692G>A,c.518G>A,p.G173D |
TUB(NM_003320,tubby bipartite transcription factor,561aa) |
g.11:8111689G>A,c.329G>A,p.R110Q |
TUB(NM_003320,tubby bipartite transcription factor,561aa) |
g.11:8060566G>A,c.146G>A,p.R49Q |
TUB(NM_003320,tubby bipartite transcription factor,561aa) |
g.11:8060565C>T,c.145C>T,p.R49X |
TUB(NM_003320,tubby bipartite transcription factor,561aa) |
g.11:8060469G>A,c.49G>A,p.E17K |
TUBGCP6(NM_020461,tubulin, gamma complex associated protein 6,1819aa) |
g.22:50682644A>C,c.245T>G,p.L82R |
TUBGCP6(NM_020461,tubulin, gamma complex associated protein 6,1819aa) |
g.22:50682351G>T,c.538C>A,p.Q180K |
TUBGCP6(NM_020461,tubulin, gamma complex associated protein 6,1819aa) |
g.22:50682234C>A,c.655G>T,p.V219L |
TUBGCP6(NM_020461,tubulin, gamma complex associated protein 6,1819aa) |
g.22:50678739T>A,c.799A>T,p.T267S |
TUBGCP6(NM_020461,tubulin, gamma complex associated protein 6,1819aa) |
g.22:50678653C>A,c.885G>T,p.R295S |