| 基因名 | 突变 |
|---|---|
| TTC1(NM_003314,tetratricopeptide repeat domain 1,292aa) | g.5:159492041A>G,c.848A>G,p.N283S |
| TTC1(NM_003314,tetratricopeptide repeat domain 1,292aa) | g.5:159437621C>G,c.86C>G,p.A29G |
| TTC19(NM_001271420,tetratricopeptide repeat domain 19,273aa) | g.17:15928474A>G,c.499A>G,p.R167G |
| TTC19(NM_001271420,tetratricopeptide repeat domain 19,273aa) | g.17:15928412C>T,c.437C>T,p.P146L |
| TTC19(NM_001271420,tetratricopeptide repeat domain 19,273aa) | g.17:15905287G>A,c.50G>A,p.R17H |
| TTC18(NM_145170,tetratricopeptide repeat domain 18,1121aa) | g.10:75104944A>G,c.488T>C,p.I163T |
| TTC18(NM_145170,tetratricopeptide repeat domain 18,1121aa) | g.10:75090963G>A,c.959C>T,p.P320L |
| TTC18(NM_145170,tetratricopeptide repeat domain 18,1121aa) | g.10:75071618G>A,c.1348C>T,p.P450S |
| TTC18(NM_145170,tetratricopeptide repeat domain 18,1121aa) | g.10:75051051T>G,c.2382A>C,p.E794D |
| TTC18(NM_145170,tetratricopeptide repeat domain 18,1121aa) | g.10:75037999C>A,c.2546G>T,p.W849L |
| TTC18(NM_145170,tetratricopeptide repeat domain 18,1121aa) | g.10:75037081G>T,c.2647C>A,p.P883T |
| TTC18(NM_145170,tetratricopeptide repeat domain 18,1121aa) | g.10:75035257T>C,c.2830A>G,p.N944D |
| TTC18(NM_145170,tetratricopeptide repeat domain 18,1121aa) | g.10:75032735C>T,c.3086G>A,p.R1029K |
| TTC17(NM_018259,tetratricopeptide repeat domain 17,1141aa) | g.11:43515377G>A,c.3349G>A,p.E1117K |
| TTC17(NM_018259,tetratricopeptide repeat domain 17,1141aa) | g.11:43513630G>A,c.3211G>A,p.V1071I |
| TTC17(NM_018259,tetratricopeptide repeat domain 17,1141aa) | g.11:43511891G>T,c.3133G>T,p.A1045S |
| TTC17(NM_018259,tetratricopeptide repeat domain 17,1141aa) | g.11:43465664G>A,c.2570G>A,p.G857E |
| TTC17(NM_018259,tetratricopeptide repeat domain 17,1141aa) | g.11:43465022G>A,c.2399G>A,p.R800Q |
| TTC17(NM_018259,tetratricopeptide repeat domain 17,1141aa) | g.11:43436167G>A,c.2092G>A,p.A698T |
| TTC17(NM_018259,tetratricopeptide repeat domain 17,1141aa) | g.11:43429117A>G,c.2054A>G,p.N685S |
| TTC17(NM_018259,tetratricopeptide repeat domain 17,1141aa) | g.11:43427469A>C,c.1729A>C,p.K577Q |
| TTC17(NM_018259,tetratricopeptide repeat domain 17,1141aa) | g.11:43427460A>C,c.1720A>C,p.M574L |
| TTC17(NM_018259,tetratricopeptide repeat domain 17,1141aa) | g.11:43427167A>G,c.1583A>G,p.N528S |
| TTC17(NM_018259,tetratricopeptide repeat domain 17,1141aa) | g.11:43427161C>T,c.1577C>T,p.P526L |
| TTC17(NM_018259,tetratricopeptide repeat domain 17,1141aa) | g.11:43427146C>T,c.1562C>T,p.T521M |
| TTC17(NM_018259,tetratricopeptide repeat domain 17,1141aa) | g.11:43419016A>G,c.893A>G,p.Y298C |
| TTC17(NM_018259,tetratricopeptide repeat domain 17,1141aa) | g.11:43413446C>T,c.607C>T,p.R203W |
| TTC17(NM_018259,tetratricopeptide repeat domain 17,1141aa) | g.11:43413028A>C,c.433A>C,p.I145L |