| Genename | Variants |
|---|---|
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47177664C>T,c.347C>T,p.S116L |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47168856C>G,c.176C>G,p.P59R |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47168838G>C,c.158G>C,p.S53T |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47168774C>G,c.94C>G,p.L32V |
| TTC5(NM_138376,tetratricopeptide repeat domain 5,440aa) | g.14:20770036T>C,c.140A>G,p.Q47R |
| TTC5(NM_138376,tetratricopeptide repeat domain 5,440aa) | g.14:20767556G>A,c.448C>T,p.R150W |
| TTC5(NM_138376,tetratricopeptide repeat domain 5,440aa) | g.14:20767466G>A,c.538C>T,p.R180C |
| TTC5(NM_138376,tetratricopeptide repeat domain 5,440aa) | g.14:20763881G>A,c.829C>T,p.L277F |
| TTC5(NM_138376,tetratricopeptide repeat domain 5,440aa) | g.14:20763603T>C,c.926A>G,p.Y309C |
| TTC4(NM_004623,tetratricopeptide repeat domain 4,387aa) | g.1:55207157C>T,c.1135C>T,p.R379W |
| TTC4(NM_004623,tetratricopeptide repeat domain 4,387aa) | g.1:55183300A>G,c.365A>G,p.N122S |
| TTC4(NM_004623,tetratricopeptide repeat domain 4,387aa) | g.1:55183290C>T,c.355C>T,p.L119F |
| TTC4(NM_004623,tetratricopeptide repeat domain 4,387aa) | g.1:55183212A>G,c.277A>G,p.K93E |
| TTC4(NM_004623,tetratricopeptide repeat domain 4,387aa) | g.1:55182303A>G,c.142A>G,p.R48G |
| TTC4(NM_004623,tetratricopeptide repeat domain 4,387aa) | g.1:55182300T>A,c.139T>A,p.S47T |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134752244C>G,c.385G>C,p.V129L |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134752216T>C,c.413A>G,p.Q138R |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134751151C>T,c.565G>A,p.G189R |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134748331C>T,c.791G>A,p.S264N |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134748281G>A,c.841C>T,p.R281C |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134748274G>A,c.848C>T,p.P283L |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134743220T>C,c.955A>G,p.M319V |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134740088T>A,c.1049A>T,p.N350I |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134738385C>G,c.1071G>C,p.Q357H |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134738228C>T,c.1228G>A,p.V410I |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134736204G>A,c.1265C>T,p.T422M |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134736076T>G,c.1393A>C,p.I465L |
| TTC40(NM_001200049,tetratricopeptide repeat domain 40,2715aa) | g.10:134736060G>T,c.1409C>A,p.T470N |