| 基因名 | 突变 |
|---|---|
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28378658G>A,c.6997C>T,p.R2333C |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28378445T>C,c.7210A>G,p.K2404E |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28378398C>A,c.7257G>T,p.Q2419H |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28378384G>C,c.7271C>G,p.A2424G |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28378361C>T,c.7294G>A,p.G2432R |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28378351C>T,c.7304G>A,p.R2435H |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28378346C>T,c.7309G>A,p.E2437K |
| TTC28(NM_001145418,tetratricopeptide repeat domain 28,2481aa) | g.22:28378294G>A,c.7361C>T,p.A2454V |
| TTC27(NM_017735,tetratricopeptide repeat domain 27,843aa) | g.2:33045980G>T,c.2507G>T,p.S836I |
| TTC27(NM_017735,tetratricopeptide repeat domain 27,843aa) | g.2:33042596A>G,c.2381A>G,p.N794S |
| TTC27(NM_017735,tetratricopeptide repeat domain 27,843aa) | g.2:33042590G>A,c.2375G>A,p.R792Q |
| TTC27(NM_017735,tetratricopeptide repeat domain 27,843aa) | g.2:33037634A>G,c.2260A>G,p.I754V |
| TTC27(NM_017735,tetratricopeptide repeat domain 27,843aa) | g.2:33036263G>A,c.2171G>A,p.S724N |
| TTC27(NM_017735,tetratricopeptide repeat domain 27,843aa) | g.2:33003025G>A,c.1757G>A,p.R586H |
| TTC27(NM_017735,tetratricopeptide repeat domain 27,843aa) | g.2:32983581A>G,c.1675A>G,p.M559V |
| TTC27(NM_017735,tetratricopeptide repeat domain 27,843aa) | g.2:32983480G>A,c.1574G>A,p.R525H |
| TTC27(NM_017735,tetratricopeptide repeat domain 27,843aa) | g.2:32983479C>T,c.1573C>T,p.R525C |
| TTC27(NM_017735,tetratricopeptide repeat domain 27,843aa) | g.2:32983399C>T,c.1493C>T,p.T498M |
| TTC27(NM_017735,tetratricopeptide repeat domain 27,843aa) | g.2:32961858A>G,c.1427A>G,p.Y476C |
| TTC27(NM_017735,tetratricopeptide repeat domain 27,843aa) | g.2:32927958C>T,c.1204C>T,p.R402X |
| TTC27(NM_017735,tetratricopeptide repeat domain 27,843aa) | g.2:32891833A>G,c.937A>G,p.K313E |
| TTC27(NM_017735,tetratricopeptide repeat domain 27,843aa) | g.2:32865434G>A,c.494G>A,p.R165H |
| TTC26(NM_024926,tetratricopeptide repeat domain 26,554aa) | g.7:138849974C>T,c.889C>T,p.R297C |
| TTC26(NM_024926,tetratricopeptide repeat domain 26,554aa) | g.7:138822669A>T,c.218A>T,p.Y73F |
| TTC26(NM_024926,tetratricopeptide repeat domain 26,554aa) | g.7:138822599C>T,c.148C>T,p.R50C |
| TTC25(NM_031421,tetratricopeptide repeat domain 25,608aa) | g.17:40117329C>T,c.1655C>T,p.S552L |
| TTC25(NM_031421,tetratricopeptide repeat domain 25,608aa) | g.17:40117301G>A,c.1627G>A,p.E543K |
| TTC25(NM_031421,tetratricopeptide repeat domain 25,608aa) | g.17:40117241G>A,c.1567G>A,p.G523R |