| 基因名 | 突变 |
|---|---|
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38495285C>T,c.1066C>T,p.R356X |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38494273C>G,c.1057C>G,p.L353V |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38480723A>G,c.877A>G,p.I293V |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38461107G>A,c.347G>A,p.R116H |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38461106C>T,c.346C>T,p.R116C |
| TTC3(NM_003316,tetratricopeptide repeat domain 3,2025aa) | g.21:38459673G>A,c.116G>A,p.R39H |
| TTC39C(NM_001135993,tetratricopeptide repeat domain 39C,583aa) | g.18:21703804A>G,c.1193A>G,p.Q398R |
| TTC39B(NM_152574,tetratricopeptide repeat domain 39B,682aa) | g.9:15307246C>G,c.76G>C,p.G26R |
| TTC39B(NM_152574,tetratricopeptide repeat domain 39B,682aa) | g.9:15307230G>C,c.92C>G,p.P31R |
| TTC39B(NM_152574,tetratricopeptide repeat domain 39B,682aa) | g.9:15307224G>A,c.98C>T,p.P33L |
| TTC39B(NM_152574,tetratricopeptide repeat domain 39B,682aa) | g.9:15307090C>T,c.232G>A,p.A78T |
| TTC39B(NM_152574,tetratricopeptide repeat domain 39B,682aa) | g.9:15214237T>G,c.382A>C,p.T128P |
| TTC39B(NM_152574,tetratricopeptide repeat domain 39B,682aa) | g.9:15211342T>C,c.536A>G,p.Q179R |
| TTC39B(NM_152574,tetratricopeptide repeat domain 39B,682aa) | g.9:15189757C>T,c.1139G>A,p.R380H |
| TTC39B(NM_152574,tetratricopeptide repeat domain 39B,682aa) | g.9:15188106T>C,c.1258A>G,p.I420V |
| TTC39B(NM_152574,tetratricopeptide repeat domain 39B,682aa) | g.9:15188018T>C,c.1346A>G,p.Q449R |
| TTC39B(NM_152574,tetratricopeptide repeat domain 39B,682aa) | g.9:15187992A>T,c.1372T>A,p.C458S |
| TTC39B(NM_152574,tetratricopeptide repeat domain 39B,682aa) | g.9:15175098G>A,c.1877C>T,p.P626L |
| TTC39B(NM_152574,tetratricopeptide repeat domain 39B,682aa) | g.9:15175039T>C,c.1936A>G,p.I646V |
| TTC39A(NM_001080494,tetratricopeptide repeat domain 39A,578aa) | g.1:51787833T>C,c.1A>G,p.M1V |
| TTC39A(NM_001080494,tetratricopeptide repeat domain 39A,578aa) | g.1:51767399G>A,c.901C>T,p.R301W |
| TTC39A(NM_001080494,tetratricopeptide repeat domain 39A,578aa) | g.1:51754619T>C,c.1505A>G,p.K502R |
| TTC39A(NM_001080494,tetratricopeptide repeat domain 39A,578aa) | g.1:51753878G>A,c.1688C>T,p.S563F |
| TTC38(NM_017931,tetratricopeptide repeat domain 38,469aa) | g.22:46685754C>T,c.1274C>T,p.A425V |
| TTC38(NM_017931,tetratricopeptide repeat domain 38,469aa) | g.22:46685432G>A,c.1216G>A,p.V406I |
| TTC38(NM_017931,tetratricopeptide repeat domain 38,469aa) | g.22:46685426C>T,c.1210C>T,p.R404W |
| TTC38(NM_017931,tetratricopeptide repeat domain 38,469aa) | g.22:46685396G>A,c.1180G>A,p.V394I |
| TTC38(NM_017931,tetratricopeptide repeat domain 38,469aa) | g.22:46685375G>A,c.1159G>A,p.E387K |