| 基因名 | 突变 |
|---|---|
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134671150T>C,c.5518A>G,p.M1840V |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134671148C>T,c.5520G>A,p.M1840I |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134671094G>C,c.5574C>G,p.D1858E |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134664758C>T,c.5626G>A,p.G1876S |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134663933A>G,c.5767T>C,p.W1923R |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134663843C>T,c.5857G>A,p.A1953T |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134663758G>A,c.5942C>T,p.A1981V |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134660578G>A,c.6125C>T,p.A2042V |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134659626A>G,c.6373T>C,p.C2125R |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134659572C>T,c.6427G>A,p.A2143T |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134649718G>A,c.6541C>T,p.R2181C |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134649709C>T,c.6550G>A,p.G2184S |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134648279C>T,c.6745G>A,p.E2249K |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134646988C>T,c.6991G>A,p.A2331T |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134646964G>A,c.7015C>T,p.P2339S |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134628237C>T,c.7202G>A,p.R2401Q |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134628208C>T,c.7231G>A,p.D2411N |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134628099C>T,c.7267G>A,p.E2423K |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134627692C>T,c.7352G>A,p.R2451Q |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134626333A>G,c.7457T>C,p.L2486P |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134626306A>C,c.7484T>G,p.V2495G |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134626304C>T,c.7486G>A,p.A2496T |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134626293C>A,c.7497G>T,p.L2499F |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134623983G>A,c.7594C>T,p.R2532C |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134623959T>C,c.7618A>G,p.S2540G |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134623929G>A,c.7648C>T,p.R2550X |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134622301C>T,c.7772G>A,p.R2591Q |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134622176C>T,c.7897G>A,p.A2633T |