| 基因名 | 突变 |
|---|---|
| TTC25(NM_031421,tetratricopeptide repeat domain 25,608aa) | g.17:40117136G>A,c.1462G>A,p.D488N |
| TTC25(NM_031421,tetratricopeptide repeat domain 25,608aa) | g.17:40113485G>T,c.1336+1G>T,p.446Donor |
| TTC25(NM_031421,tetratricopeptide repeat domain 25,608aa) | g.17:40107304A>G,c.1220A>G,p.H407R |
| TTC25(NM_031421,tetratricopeptide repeat domain 25,608aa) | g.17:40093141G>A,c.586G>A,p.V196M |
| TTC25(NM_031421,tetratricopeptide repeat domain 25,608aa) | g.17:40087031G>A,c.55G>A,p.E19K |
| TTC25(NM_031421,tetratricopeptide repeat domain 25,608aa) | g.17:40086986C>T,c.10C>T,p.P4S |
| TTC24(NM_001105669,tetratricopeptide repeat domain 24,582aa) | g.1:156555819A>G,c.1649A>G,p.N550S |
| TTC24(NM_001105669,tetratricopeptide repeat domain 24,582aa) | g.1:156555764C>G,c.1594C>G,p.P532A |
| TTC24(NM_001105669,tetratricopeptide repeat domain 24,582aa) | g.1:156555577C>T,c.1529C>T,p.T510M |
| TTC24(NM_001105669,tetratricopeptide repeat domain 24,582aa) | g.1:156553232del,c.1142del,p.381fs |
| TTC24(NM_001105669,tetratricopeptide repeat domain 24,582aa) | g.1:156553142G>C,c.1052G>C,p.G351A |
| TTC24(NM_001105669,tetratricopeptide repeat domain 24,582aa) | g.1:156552089C>A,c.773C>A,p.A258D |
| TTC24(NM_001105669,tetratricopeptide repeat domain 24,582aa) | g.1:156552082G>A,c.766G>A,p.V256M |
| TTC24(NM_001105669,tetratricopeptide repeat domain 24,582aa) | g.1:156551848A>G,c.692A>G,p.E231G |
| TTC24(NM_001105669,tetratricopeptide repeat domain 24,582aa) | g.1:156551628G>T,c.472G>T,p.A158S |
| TTC24(NM_001105669,tetratricopeptide repeat domain 24,582aa) | g.1:156551248G>A,c.92G>A,p.R31Q |
| TTC24(NM_001105669,tetratricopeptide repeat domain 24,582aa) | g.1:156551247C>T,c.91C>T,p.R31W |
| TTC23(NM_001040655,tetratricopeptide repeat domain 23,447aa) | g.15:99762041C>T,c.209G>A,p.R70H |
| TTC23(NM_001040655,tetratricopeptide repeat domain 23,447aa) | g.15:99761967G>C,c.283C>G,p.Q95E |
| TTC23(NM_001040655,tetratricopeptide repeat domain 23,447aa) | g.15:99759194T>C,c.364A>G,p.I122V |
| TTC23(NM_001040655,tetratricopeptide repeat domain 23,447aa) | g.15:99740221C>T,c.662G>A,p.G221D |
| TTC23(NM_001040655,tetratricopeptide repeat domain 23,447aa) | g.15:99696480T>G,c.1016A>C,p.E339A |
| TTC23L(NM_144725,tetratricopeptide repeat domain 23-like,361aa) | g.5:34869025G>A,c.856G>A,p.V286I |
| TTC23L(NM_144725,tetratricopeptide repeat domain 23-like,361aa) | g.5:34867037T>C,c.703T>C,p.Y235H |
| TTC23L(NM_144725,tetratricopeptide repeat domain 23-like,361aa) | g.5:34864589A>C,c.584A>C,p.K195T |
| TTC23L(NM_144725,tetratricopeptide repeat domain 23-like,361aa) | g.5:34863027A>G,c.404A>G,p.H135R |
| TTC23L(NM_144725,tetratricopeptide repeat domain 23-like,361aa) | g.5:34863011G>T,c.388G>T,p.V130F |
| TTC23L(NM_144725,tetratricopeptide repeat domain 23-like,361aa) | g.5:34850389G>A,c.355G>A,p.A119T |