| 基因名 | 突变 |
|---|---|
| TRUB2(NM_015679,TruB pseudouridine (psi) synthase family member 2,331aa) | g.9:131076092G>A,c.455C>T,p.T152I |
| TRUB2(NM_015679,TruB pseudouridine (psi) synthase family member 2,331aa) | g.9:131072142A>G,c.683T>C,p.M228T |
| TRUB2(NM_015679,TruB pseudouridine (psi) synthase family member 2,331aa) | g.9:131071873C>G,c.952G>C,p.G318R |
| TRUB2(NM_015679,TruB pseudouridine (psi) synthase family member 2,331aa) | g.9:131071856C>G,c.969G>C,p.L323F |
| TRUB1(NM_139169,TruB pseudouridine (psi) synthase family member 1,349aa) | g.10:116734900A>G,c.812A>G,p.N271S |
| TRUB1(NM_139169,TruB pseudouridine (psi) synthase family member 1,349aa) | g.10:116730125A>C,c.524-2A>C,p.175Acceptor |
| TRUB1(NM_139169,TruB pseudouridine (psi) synthase family member 1,349aa) | g.10:116719543G>A,c.500G>A,p.R167K |
| TRUB1(NM_139169,TruB pseudouridine (psi) synthase family member 1,349aa) | g.10:116719498T>C,c.455T>C,p.I152T |
| TRUB1(NM_139169,TruB pseudouridine (psi) synthase family member 1,349aa) | g.10:116710888A>G,c.421A>G,p.S141G |
| TRUB1(NM_139169,TruB pseudouridine (psi) synthase family member 1,349aa) | g.10:116702425A>C,c.308A>C,p.E103A |
| TRRAP(NM_001244580,transformation/transcription domain-associated protein,3859aa) | g.7:98609764C>T,c.11366C>T,p.T3789M |
| TRRAP(NM_001244580,transformation/transcription domain-associated protein,3859aa) | g.7:98606150C>T,c.10862C>T,p.T3621M |
| TRRAP(NM_001244580,transformation/transcription domain-associated protein,3859aa) | g.7:98602842T>C,c.10582T>C,p.Y3528H |
| TRRAP(NM_001244580,transformation/transcription domain-associated protein,3859aa) | g.7:98601827G>A,c.10282G>A,p.V3428I |
| TRRAP(NM_001244580,transformation/transcription domain-associated protein,3859aa) | g.7:98574585G>C,c.8250G>C,p.E2750D |
| TRRAP(NM_001244580,transformation/transcription domain-associated protein,3859aa) | g.7:98573796G>A,c.7843G>A,p.V2615I |
| TRRAP(NM_001244580,transformation/transcription domain-associated protein,3859aa) | g.7:98567747G>A,c.7504G>A,p.V2502M |
| TRRAP(NM_001244580,transformation/transcription domain-associated protein,3859aa) | g.7:98533266C>T,c.4079C>T,p.P1360L |
| TRRAP(NM_001244580,transformation/transcription domain-associated protein,3859aa) | g.7:98527644A>G,c.3208A>G,p.S1070G |
| TRRAP(NM_001244580,transformation/transcription domain-associated protein,3859aa) | g.7:98522814A>G,c.2903A>G,p.K968R |
| TRRAP(NM_001244580,transformation/transcription domain-associated protein,3859aa) | g.7:98507773C>G,c.1445C>G,p.A482G |
| TRRAP(NM_001244580,transformation/transcription domain-associated protein,3859aa) | g.7:98507766G>A,c.1438G>A,p.V480M |
| TRRAP(NM_001244580,transformation/transcription domain-associated protein,3859aa) | g.7:98507710G>A,c.1382G>A,p.R461Q |
| TRPV6(NM_018646,transient receptor potential cation channel, subfamily V, member 6,725aa) | g.7:142583213T>C,c.49A>G,p.S17G |
| TRPV6(NM_018646,transient receptor potential cation channel, subfamily V, member 6,725aa) | g.7:142583206A>C,c.56T>G,p.F19C |
| TRPV6(NM_018646,transient receptor potential cation channel, subfamily V, member 6,725aa) | g.7:142583185C>T,c.77G>A,p.R26Q |
| TRPV6(NM_018646,transient receptor potential cation channel, subfamily V, member 6,725aa) | g.7:142575704C>A,c.204G>T,p.E68D |
| TRPV6(NM_018646,transient receptor potential cation channel, subfamily V, member 6,725aa) | g.7:142575470C>T,c.283G>A,p.A95T |