| 基因名 | 突变 |
|---|---|
| TTC13(NM_024525,tetratricopeptide repeat domain 13,860aa) | g.1:231114420A>C,c.157T>G,p.S53A |
| TTC13(NM_024525,tetratricopeptide repeat domain 13,860aa) | g.1:231056260A>G,c.1979T>C,p.M660T |
| TTC13(NM_024525,tetratricopeptide repeat domain 13,860aa) | g.1:231048479C>T,c.2119G>A,p.E707K |
| TTC13(NM_024525,tetratricopeptide repeat domain 13,860aa) | g.1:231047271T>C,c.2254A>G,p.I752V |
| TTC13(NM_024525,tetratricopeptide repeat domain 13,860aa) | g.1:231042715G>A,c.2519C>T,p.T840M |
| TTC12(NM_017868,tetratricopeptide repeat domain 12,705aa) | g.11:113236997C>T,c.2093C>T,p.T698M |
| TTC12(NM_017868,tetratricopeptide repeat domain 12,705aa) | g.11:113236975G>A,c.2071G>A,p.G691S |
| TTC12(NM_017868,tetratricopeptide repeat domain 12,705aa) | g.11:113222931T>C,c.1446+2T>C,p.482Donor |
| TTC12(NM_017868,tetratricopeptide repeat domain 12,705aa) | g.11:113222885A>T,c.1402A>T,p.M468L |
| TTC12(NM_017868,tetratricopeptide repeat domain 12,705aa) | g.11:113222016G>A,c.1303G>A,p.V435I |
| TTC12(NM_017868,tetratricopeptide repeat domain 12,705aa) | g.11:113220806C>T,c.1166C>T,p.A389V |
| TTC12(NM_017868,tetratricopeptide repeat domain 12,705aa) | g.11:113215005C>T,c.997C>T,p.R333C |
| TTC12(NM_017868,tetratricopeptide repeat domain 12,705aa) | g.11:113196306G>A,c.383G>A,p.R128H |
| TTC12(NM_017868,tetratricopeptide repeat domain 12,705aa) | g.11:113196252A>G,c.329A>G,p.K110R |
| TTC12(NM_017868,tetratricopeptide repeat domain 12,705aa) | g.11:113194168A>C,c.217A>C,p.M73L |
| TTC12(NM_017868,tetratricopeptide repeat domain 12,705aa) | g.11:113194069G>C,c.118G>C,p.E40Q |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43170793A>G,c.23T>C,p.L8P |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43120134C>T,c.529G>A,p.V177I |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43109238G>A,c.595C>T,p.R199W |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43086885T>C,c.937A>G,p.T313A |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43069391T>C,c.1247A>G,p.N416S |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43069230A>G,c.1408T>C,p.C470R |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43067832C>G,c.1499G>C,p.R500P |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43067776C>G,c.1555G>C,p.A519P |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43045273C>T,c.2171G>A,p.G724E |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43045166G>A,c.2278C>T,p.P760S |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43044919T>C,c.2525A>G,p.E842G |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43044613C>T,c.2831G>A,p.R944Q |