| 基因名 | 突变 |
|---|---|
| TTC29(NM_031956,tetratricopeptide repeat domain 29,475aa) | g.4:147824864G>A,c.418C>T,p.H140Y |
| TTC29(NM_031956,tetratricopeptide repeat domain 29,475aa) | g.4:147795903T>C,c.764A>G,p.K255R |
| TTC29(NM_031956,tetratricopeptide repeat domain 29,475aa) | g.4:147788709C>T,c.826G>A,p.A276T |
| TTC29(NM_031956,tetratricopeptide repeat domain 29,475aa) | g.4:147788684T>C,c.851A>G,p.H284R |
| TTC29(NM_031956,tetratricopeptide repeat domain 29,475aa) | g.4:147754995C>T,c.940G>A,p.G314R |
| TTC29(NM_031956,tetratricopeptide repeat domain 29,475aa) | g.4:147724769C>T,c.1170G>A,p.M390I |
| TTC29(NM_031956,tetratricopeptide repeat domain 29,475aa) | g.4:147724651A>C,c.1288T>G,p.W430G |
| TTC29(NM_031956,tetratricopeptide repeat domain 29,475aa) | g.4:147628656G>A,c.1378C>T,p.R460C |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:29075651G>A,c.61C>T,p.R21X |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28692259T>C,c.860A>G,p.K287R |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28559302G>A,c.1219C>T,p.R407W |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28504326T>C,c.1507A>G,p.I503V |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28504247A>G,c.1586T>C,p.M529T |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28503420T>G,c.2413A>C,p.M805L |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28503200C>T,c.2633G>A,p.R878Q |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28503194T>C,c.2639A>G,p.Y880C |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28503054G>A,c.2779C>T,p.H927Y |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28501414C>T,c.3160G>A,p.E1054K |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28501344G>A,c.3230C>T,p.T1077M |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28495028T>C,c.3422A>G,p.Y1141C |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28410313G>C,c.4141C>G,p.L1381V |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28395101C>T,c.4546G>A,p.E1516K |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28392157C>T,c.5210G>A,p.R1737H |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28389314G>A,c.5437C>T,p.R1813W |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28381279G>A,c.5773C>T,p.R1925W |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28379120G>A,c.6535C>T,p.R2179C |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28378780C>T,c.6875G>A,p.S2292N |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28378688C>G,c.6967G>C,p.A2323P |