| 基因名 | 突变 |
|---|---|
| TTC23L(NM_144725,tetratricopeptide repeat domain 23-like,361aa) | g.5:34850371C>T,c.337C>T,p.R113X |
| TTC23L(NM_144725,tetratricopeptide repeat domain 23-like,361aa) | g.5:34845722A>G,c.199A>G,p.K67E |
| TTC23L(NM_144725,tetratricopeptide repeat domain 23-like,361aa) | g.5:34840841A>G,c.65A>G,p.H22R |
| TTC22(NM_017904,tetratricopeptide repeat domain 22,372aa) | g.1:55266797G>C,c.40C>G,p.L14V |
| TTC22(NM_017904,tetratricopeptide repeat domain 22,372aa) | g.1:55253766G>T,c.572C>A,p.P191Q |
| TTC22(NM_017904,tetratricopeptide repeat domain 22,372aa) | g.1:55253437C>T,c.686G>A,p.R229H |
| TTC22(NM_017904,tetratricopeptide repeat domain 22,372aa) | g.1:55253420G>A,c.703C>T,p.R235W |
| TTC22(NM_017904,tetratricopeptide repeat domain 22,372aa) | g.1:55253419C>T,c.704G>A,p.R235Q |
| TTC22(NM_017904,tetratricopeptide repeat domain 22,372aa) | g.1:55253392C>T,c.731G>A,p.R244H |
| TTC22(NM_017904,tetratricopeptide repeat domain 22,372aa) | g.1:55253386C>T,c.737G>A,p.R246Q |
| TTC22(NM_017904,tetratricopeptide repeat domain 22,372aa) | g.1:55252738C>T,c.750G>A,p.W250X |
| TTC22(NM_017904,tetratricopeptide repeat domain 22,372aa) | g.1:55252712C>T,c.776G>A,p.R259Q |
| TTC22(NM_017904,tetratricopeptide repeat domain 22,372aa) | g.1:55252706T>A,c.782A>T,p.D261V |
| TTC22(NM_017904,tetratricopeptide repeat domain 22,372aa) | g.1:55251699C>T,c.977G>A,p.R326Q |
| TTC22(NM_017904,tetratricopeptide repeat domain 22,372aa) | g.1:55251314G>A,c.1024C>T,p.R342X |
| TTC22(NM_017904,tetratricopeptide repeat domain 22,372aa) | g.1:55251265G>T,c.1073C>A,p.A358E |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166797646C>T,c.601G>A,p.V201M |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166797631C>T,c.616G>A,p.V206M |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166789554C>T,c.724G>A,p.D242N |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166788336T>C,c.826A>G,p.T276A |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166788282C>A,c.880G>T,p.A294S |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166786856T>C,c.913A>G,p.I305V |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166781158G>A,c.1417C>T,p.L473F |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166773969T>C,c.1697A>G,p.H566R |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166773820G>A,c.1846C>T,p.R616C |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166769119C>T,c.2227G>A,p.V743I |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166769046A>G,c.2300T>C,p.I767T |
| TTC21B(NM_024753,tetratricopeptide repeat domain 21B,1316aa) | g.2:166767913C>G,c.2385G>C,p.L795L |