基因名 突变
TMEM254(NM_001270374,transmembrane protein 254,76aa) g.10:81841432G>A,c.49G>A,p.E17K
TMEM254(NM_001270374,transmembrane protein 254,76aa) g.10:81841429_81841432del,c.46_49del,p.16fs
TMEM254(NM_001270374,transmembrane protein 254,76aa) g.10:81841421_81841422insA,c.38_39insA,p.13fs
TMEM254(NM_001270374,transmembrane protein 254,76aa) g.10:81841405C>T,c.22C>T,p.R8W
TMEM253(NM_001146683,transmembrane protein 253,217aa) g.14:21570257G>A,c.254G>A,p.R85H
TMEM252(NM_153237,transmembrane protein 252,170aa) g.9:71155498C>T,c.233G>A,p.R78Q
TMEM252(NM_153237,transmembrane protein 252,170aa) g.9:71152343C>G,c.345G>C,p.E115D
TMEM252(NM_153237,transmembrane protein 252,170aa) g.9:71152201C>T,c.487G>A,p.A163T
TMEM252(NM_153237,transmembrane protein 252,170aa) g.9:71152191C>T,c.497G>A,p.R166Q
TMEM252(NM_153237,transmembrane protein 252,170aa) g.9:71152177A>G,c.511T>C,p.X171R
TMEM251(NM_001098621,transmembrane protein 251,169aa) g.14:93653012C>T,c.506C>T,p.T169M
TMEM251(NM_001098621,transmembrane protein 251,169aa) g.14:93652974G>T,c.468G>T,p.K156N
TMEM251(NM_001098621,transmembrane protein 251,169aa) g.14:93652930A>G,c.424A>G,p.I142V
TMEM251(NM_001098621,transmembrane protein 251,169aa) g.14:93652796T>G,c.290T>G,p.L97W
TMEM251(NM_001098621,transmembrane protein 251,169aa) g.14:93652681G>A,c.175G>A,p.A59T
TMEM249(NM_001280561,transmembrane protein 249,235aa) g.8:145577899C>T,c.244G>A,p.E82K
TMEM248(NM_017994,transmembrane protein 248,314aa) g.7:66418264T>G,c.832T>G,p.F278V
TMEM248(NM_017994,transmembrane protein 248,314aa) g.7:66410231A>G,c.428A>G,p.H143R
TMEM248(NM_017994,transmembrane protein 248,314aa) g.7:66410218A>G,c.415A>G,p.T139A
TMEM248(NM_017994,transmembrane protein 248,314aa) g.7:66410111C>T,c.308C>T,p.A103V
TMEM246(NM_032342,transmembrane protein 246,403aa) g.9:104239362T>C,c.13A>G,p.T5A
TMEM246(NM_032342,transmembrane protein 246,403aa) g.9:104238966C>T,c.409G>A,p.E137K
TMEM246(NM_032342,transmembrane protein 246,403aa) g.9:104238341C>T,c.1034G>A,p.R345H
TMEM245(NM_032012,transmembrane protein 245,879aa) g.9:111882167G>C,c.27C>G,p.D9E
TMEM245(NM_032012,transmembrane protein 245,879aa) g.9:111881973T>C,c.221A>G,p.Y74C
TMEM245(NM_032012,transmembrane protein 245,879aa) g.9:111881856T>C,c.338A>G,p.H113R
TMEM245(NM_032012,transmembrane protein 245,879aa) g.9:111870787G>A,c.643C>T,p.R215C
TMEM245(NM_032012,transmembrane protein 245,879aa) g.9:111853412C>T,c.940G>A,p.A314T
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