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
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org