| 基因名 | 突变 |
|---|---|
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134622114_134622115insG,c.7958_7959insC,p.2653fs |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134622089A>G,c.7984T>C,p.W2662R |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134622046C>T,c.8027G>A,p.R2676H |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38572591G>A,c.5909G>A,p.R1970H |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38572587G>A,c.5905G>A,p.V1969M |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38568262G>A,c.5504G>A,p.R1835H |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38568259C>T,c.5501C>T,p.A1834V |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38568252C>T,c.5494C>T,p.R1832C |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38568237C>G,c.5479C>G,p.P1827A |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38568009G>C,c.5251G>C,p.D1751H |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38563686G>C,c.5076G>C,p.L1692F |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38563639C>T,c.5029C>T,p.P1677S |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38560866C>G,c.4994C>G,p.A1665G |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38560824G>A,c.4952G>A,p.S1651N |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38559379T>C,c.4856T>C,p.I1619T |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38555115G>A,c.4657G>A,p.E1553K |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38538472C>T,c.3956C>T,p.T1319M |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38538199C>T,c.3683C>T,p.S1228L |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38538037T>C,c.3521T>C,p.V1174A |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38538018T>C,c.3502T>C,p.C1168R |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38534308C>G,c.3113C>G,p.S1038C |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38528987G>A,c.2771G>A,p.R924H |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38525356T>C,c.2519T>C,p.M840T |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38524272G>C,c.2356G>C,p.E786Q |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38520856G>A,c.2027G>A,p.R676H |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38516875G>A,c.1823G>A,p.R608H |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38504998A>C,c.1375A>C,p.T459P |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38495302T>A,c.1083T>A,p.D361E |