| 基因名 | 突变 |
|---|---|
| TTC7B(NM_001010854,tetratricopeptide repeat domain 7B,843aa) | g.14:91247123G>A,c.404C>T,p.P135L |
| TTC7B(NM_001010854,tetratricopeptide repeat domain 7B,843aa) | g.14:91155947C>T,c.887G>A,p.R296H |
| TTC7B(NM_001010854,tetratricopeptide repeat domain 7B,843aa) | g.14:91155912G>A,c.922C>T,p.R308W |
| TTC7B(NM_001010854,tetratricopeptide repeat domain 7B,843aa) | g.14:91142889C>T,c.1130G>A,p.G377D |
| TTC7B(NM_001010854,tetratricopeptide repeat domain 7B,843aa) | g.14:91123615C>T,c.1244G>A,p.R415H |
| TTC7B(NM_001010854,tetratricopeptide repeat domain 7B,843aa) | g.14:91123591C>T,c.1268G>A,p.C423Y |
| TTC7B(NM_001010854,tetratricopeptide repeat domain 7B,843aa) | g.14:91121421C>T,c.1375G>A,p.V459I |
| TTC7B(NM_001010854,tetratricopeptide repeat domain 7B,843aa) | g.14:91059965C>T,c.1972G>A,p.V658I |
| TTC7B(NM_001010854,tetratricopeptide repeat domain 7B,843aa) | g.14:91044536G>T,c.2224C>A,p.L742I |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47288013G>A,c.2258G>A,p.R753Q |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47287925C>A,c.2170C>A,p.Q724K |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47251469G>C,c.1612G>C,p.V538L |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47249055G>A,c.1447G>A,p.G483R |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47238530G>A,c.1348G>A,p.V450M |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47233185T>A,c.1190T>A,p.V397D |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47233184G>A,c.1189G>A,p.V397I |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47233124C>G,c.1129C>G,p.Q377E |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47233065C>G,c.1070C>G,p.T357S |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47220630G>A,c.806G>A,p.R269Q |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47220618G>A,c.794G>A,p.R265Q |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47220617C>T,c.793C>T,p.R265W |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47206034A>T,c.752A>T,p.N251I |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47202150C>T,c.556C>T,p.R186C |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47184091G>A,c.462G>A,p.M154I |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47184066G>T,c.437G>T,p.R146L |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47184066G>A,c.437G>A,p.R146Q |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47184065C>T,c.436C>T,p.R146W |
| TTC7A(NM_020458,tetratricopeptide repeat domain 7A,858aa) | g.2:47184062G>A,c.433G>A,p.A145T |