| 基因名 | 突变 |
|---|---|
| TTC30B(NM_152517,tetratricopeptide repeat domain 30B,665aa) | g.2:178417385C>G,c.107G>C,p.G36A |
| TTC30B(NM_152517,tetratricopeptide repeat domain 30B,665aa) | g.2:178417193C>T,c.299G>A,p.R100Q |
| TTC30B(NM_152517,tetratricopeptide repeat domain 30B,665aa) | g.2:178417142C>T,c.350G>A,p.R117H |
| TTC30B(NM_152517,tetratricopeptide repeat domain 30B,665aa) | g.2:178417136T>C,c.356A>G,p.Q119R |
| TTC30B(NM_152517,tetratricopeptide repeat domain 30B,665aa) | g.2:178417062C>T,c.430G>A,p.G144R |
| TTC30B(NM_152517,tetratricopeptide repeat domain 30B,665aa) | g.2:178417061C>A,c.431G>T,p.G144V |
| TTC30B(NM_152517,tetratricopeptide repeat domain 30B,665aa) | g.2:178416947T>G,c.545A>C,p.Q182P |
| TTC30B(NM_152517,tetratricopeptide repeat domain 30B,665aa) | g.2:178416402C>T,c.1090G>A,p.A364T |
| TTC30B(NM_152517,tetratricopeptide repeat domain 30B,665aa) | g.2:178416368G>A,c.1124C>T,p.A375V |
| TTC30B(NM_152517,tetratricopeptide repeat domain 30B,665aa) | g.2:178416320C>T,c.1172G>A,p.R391Q |
| TTC30B(NM_152517,tetratricopeptide repeat domain 30B,665aa) | g.2:178415879T>C,c.1613A>G,p.K538R |
| TTC30B(NM_152517,tetratricopeptide repeat domain 30B,665aa) | g.2:178415809G>C,c.1683C>G,p.D561E |
| TTC30B(NM_152517,tetratricopeptide repeat domain 30B,665aa) | g.2:178415802T>C,c.1690A>G,p.I564V |
| TTC30B(NM_152517,tetratricopeptide repeat domain 30B,665aa) | g.2:178415694G>A,c.1798C>T,p.H600Y |
| TTC30B(NM_152517,tetratricopeptide repeat domain 30B,665aa) | g.2:178415571C>T,c.1921G>A,p.V641I |
| TTC30A(NM_152275,tetratricopeptide repeat domain 30A,665aa) | g.2:178483216C>G,c.214G>C,p.G72R |
| TTC30A(NM_152275,tetratricopeptide repeat domain 30A,665aa) | g.2:178483080C>T,c.350G>A,p.R117H |
| TTC30A(NM_152275,tetratricopeptide repeat domain 30A,665aa) | g.2:178482994C>G,c.436G>C,p.E146Q |
| TTC30A(NM_152275,tetratricopeptide repeat domain 30A,665aa) | g.2:178482987_178482988insT,c.442_443insA,p.148fs |
| TTC30A(NM_152275,tetratricopeptide repeat domain 30A,665aa) | g.2:178482780C>T,c.650G>A,p.R217H |
| TTC30A(NM_152275,tetratricopeptide repeat domain 30A,665aa) | g.2:178482771C>T,c.659G>A,p.R220H |
| TTC30A(NM_152275,tetratricopeptide repeat domain 30A,665aa) | g.2:178482720C>T,c.710G>A,p.R237H |
| TTC30A(NM_152275,tetratricopeptide repeat domain 30A,665aa) | g.2:178482594G>T,c.836C>A,p.P279H |
| TTC30A(NM_152275,tetratricopeptide repeat domain 30A,665aa) | g.2:178482094C>T,c.1336G>A,p.V446I |
| TTC29(NM_031956,tetratricopeptide repeat domain 29,475aa) | g.4:147860980G>A,c.68C>T,p.P23L |
| TTC29(NM_031956,tetratricopeptide repeat domain 29,475aa) | g.4:147830349A>G,c.229T>C,p.Y77H |
| TTC29(NM_031956,tetratricopeptide repeat domain 29,475aa) | g.4:147830322C>G,c.256G>C,p.A86P |
| TTC29(NM_031956,tetratricopeptide repeat domain 29,475aa) | g.4:147830297A>G,c.281T>C,p.L94P |