基因名 |
突变 |
TMEM45B(NM_138788,transmembrane protein 45B,275aa) |
g.11:129722549G>A,c.172G>A,p.V58I |
TMEM45B(NM_138788,transmembrane protein 45B,275aa) |
g.11:129722478G>A,c.101G>A,p.R34Q |
TMEM45B(NM_138788,transmembrane protein 45B,275aa) |
g.11:129722427T>C,c.50T>C,p.I17T |
TMEM45A(NM_018004,transmembrane protein 45A,275aa) |
g.3:100295833C>T,c.799C>T,p.R267X |
TMEM45A(NM_018004,transmembrane protein 45A,275aa) |
g.3:100277249C>G,c.404C>G,p.A135G |
TMEM44(NM_001166305,transmembrane protein 44,475aa) |
g.3:194353875G>T,c.70C>A,p.H24N |
TMEM44(NM_001166305,transmembrane protein 44,475aa) |
g.3:194344395G>A,c.388C>T,p.R130W |
TMEM44(NM_001166305,transmembrane protein 44,475aa) |
g.3:194344343G>A,c.440C>T,p.P147L |
TMEM44(NM_001166305,transmembrane protein 44,475aa) |
g.3:194344307G>A,c.476C>T,p.S159L |
TMEM44(NM_001166305,transmembrane protein 44,475aa) |
g.3:194338424G>C,c.694C>G,p.R232G |
TMEM44(NM_001166305,transmembrane protein 44,475aa) |
g.3:194338423C>T,c.695G>A,p.R232H |
TMEM44(NM_001166305,transmembrane protein 44,475aa) |
g.3:194338399G>A,c.719C>T,p.A240V |
TMEM44(NM_001166305,transmembrane protein 44,475aa) |
g.3:194337922G>A,c.830C>T,p.S277L |
TMEM44(NM_001166305,transmembrane protein 44,475aa) |
g.3:194337905C>T,c.847G>A,p.D283N |
TMEM44(NM_001166305,transmembrane protein 44,475aa) |
g.3:194337901T>C,c.851A>G,p.Q284R |
TMEM44(NM_001166305,transmembrane protein 44,475aa) |
g.3:194337847C>T,c.905G>A,p.R302H |
TMEM44(NM_001166305,transmembrane protein 44,475aa) |
g.3:194337844G>A,c.908C>T,p.A303V |
TMEM44(NM_001166305,transmembrane protein 44,475aa) |
g.3:194337833G>C,c.919C>G,p.L307V |
TMEM44(NM_001166305,transmembrane protein 44,475aa) |
g.3:194325068C>T,c.1265G>A,p.R422Q |
TMEM44(NM_001166305,transmembrane protein 44,475aa) |
g.3:194325057C>T,c.1276G>A,p.G426S |
TMEM44(NM_001166305,transmembrane protein 44,475aa) |
g.3:194309344C>T,c.1342G>A,p.E448K |
TMEM43(NM_024334,transmembrane protein 43,400aa) |
g.3:14183203T>C,c.1111T>C,p.Y371H |
TMEM43(NM_024334,transmembrane protein 43,400aa) |
g.3:14180744G>C,c.947G>C,p.W316S |
TMEM43(NM_024334,transmembrane protein 43,400aa) |
g.3:14180731C>T,c.934C>T,p.R312W |
TMEM43(NM_024334,transmembrane protein 43,400aa) |
g.3:14180693G>C,c.896G>C,p.R299T |
TMEM43(NM_024334,transmembrane protein 43,400aa) |
g.3:14177322C>T,c.796C>T,p.R266W |
TMEM43(NM_024334,transmembrane protein 43,400aa) |
g.3:14176700G>A,c.748G>A,p.G250S |
TMEM43(NM_024334,transmembrane protein 43,400aa) |
g.3:14176287G>A,c.601G>A,p.D201N |