| 基因名 | 突变 |
|---|---|
| RUFY2(NM_017987,RUN and FYVE domain containing 2,641aa) | g.10:70156556T>C,c.484A>G,p.I162V |
| RUFY2(NM_017987,RUN and FYVE domain containing 2,641aa) | g.10:70139206C>T,c.1285G>A,p.A429T |
| RUFY2(NM_017987,RUN and FYVE domain containing 2,641aa) | g.10:70123847T>G,c.1454A>C,p.K485T |
| RUFY2(NM_017987,RUN and FYVE domain containing 2,641aa) | g.10:70105816T>G,c.1730A>C,p.E577A |
| RUFY2(NM_017987,RUN and FYVE domain containing 2,641aa) | g.10:70105813G>A,c.1733C>T,p.A578V |
| RUFY1(NM_001040451,RUN and FYVE domain containing 1,600aa) | g.5:179036506T>G,c.1789T>G,p.S597A |
| RUFY1(NM_001040451,RUN and FYVE domain containing 1,600aa) | g.5:179023580G>A,c.1205G>A,p.R402Q |
| RUFY1(NM_001040451,RUN and FYVE domain containing 1,600aa) | g.5:179018678A>G,c.857A>G,p.Q286R |
| RUFY1(NM_001040451,RUN and FYVE domain containing 1,600aa) | g.5:179007951T>G,c.570T>G,p.H190Q |
| RUFY1(NM_001040451,RUN and FYVE domain containing 1,600aa) | g.5:178996377A>G,c.455A>G,p.N152S |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67871343A>C,c.376T>G,p.S126A |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67864918T>G,c.635A>C,p.D212A |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67864880G>A,c.673C>T,p.Q225X |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67863855A>T,c.723T>A,p.F241L |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67863850_67863851insCTC,c.727_728insGAG,p.243ins1aa |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67863844T>C,c.734A>G,p.K245R |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67863839G>A,c.739C>T,p.R247C |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67863773A>G,c.805T>C,p.F269L |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67863745T>C,c.833A>G,p.N278S |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67860579G>A,c.952C>T,p.R318C |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67855348T>G,c.1301A>C,p.D434A |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67836115G>T,c.1665C>A,p.N555K |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67834219G>A,c.1738C>T,p.R580C |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67833306T>C,c.1921A>G,p.I641V |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67816191G>A,c.2255C>T,p.P752L |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67806883G>A,c.2740C>T,p.R914C |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67802501T>C,c.2804A>G,p.H935R |
| RTTN(NM_173630,rotatin,2226aa) | g.18:67802490T>C,c.2815A>G,p.S939G |