基因名 突变
MLKL(NM_152649,mixed lineage kinase domain-like,471aa) g.16:74726270T>G,c.505A>C,p.M169L
MLKL(NM_152649,mixed lineage kinase domain-like,471aa) g.16:74716640C>T,c.865G>A,p.G289R
MLKL(NM_152649,mixed lineage kinase domain-like,471aa) g.16:74716589G>A,c.916C>T,p.R306C
MLKL(NM_152649,mixed lineage kinase domain-like,471aa) g.16:74716588C>T,c.917G>A,p.R306H
MLKL(NM_152649,mixed lineage kinase domain-like,471aa) g.16:74709610G>A,c.1091C>T,p.T364M
MLKL(NM_152649,mixed lineage kinase domain-like,471aa) g.16:74709535T>C,c.1166A>G,p.Y389C
MLKL(NM_152649,mixed lineage kinase domain-like,471aa) g.16:74709261G>A,c.1232C>T,p.P411L
MLKL(NM_152649,mixed lineage kinase domain-like,471aa) g.16:74708977C>T,c.1262G>A,p.R421H
MLKL(NM_152649,mixed lineage kinase domain-like,471aa) g.16:74708872C>A,c.1367G>T,p.R456L
MLIP(NM_001281746,muscular LMNA-interacting protein,915aa) g.6:54079968G>A,c.2716G>A,p.G906R
MLIP(NM_001281746,muscular LMNA-interacting protein,915aa) g.6:54054686T>A,c.2530T>A,p.S844T
MLIP(NM_001281746,muscular LMNA-interacting protein,915aa) g.6:54054678C>T,c.2522C>T,p.S841F
MLIP(NM_001281746,muscular LMNA-interacting protein,915aa) g.6:54025539A>G,c.2408A>G,p.H803R
MLIP(NM_001281746,muscular LMNA-interacting protein,915aa) g.6:54003052A>G,c.2152A>G,p.M718V
MLIP(NM_001281746,muscular LMNA-interacting protein,915aa) g.6:54002971C>T,c.2071C>T,p.H691Y
MLIP(NM_001281746,muscular LMNA-interacting protein,915aa) g.6:54002927C>T,c.2027C>T,p.T676I
MLIP(NM_001281746,muscular LMNA-interacting protein,915aa) g.6:54002741A>G,c.1841A>G,p.K614R
MLIP(NM_001281746,muscular LMNA-interacting protein,915aa) g.6:54002335T>A,c.1435T>A,p.S479T
MLIP(NM_001281746,muscular LMNA-interacting protein,915aa) g.6:54002243C>G,c.1343C>G,p.P448R
MLIP(NM_001281746,muscular LMNA-interacting protein,915aa) g.6:54002231A>C,c.1331A>C,p.E444A
MLIP(NM_001281746,muscular LMNA-interacting protein,915aa) g.6:53989526G>A,c.475G>A,p.V159I
MLIP(NM_001281746,muscular LMNA-interacting protein,915aa) g.6:53989505G>A,c.454G>A,p.G152R
MLIP(NM_001281746,muscular LMNA-interacting protein,915aa) g.6:53989446T>C,c.395T>C,p.I132T
MLIP(NM_001281746,muscular LMNA-interacting protein,915aa) g.6:53883875G>C,c.49G>C,p.E17Q
MLIP(NM_001281746,muscular LMNA-interacting protein,915aa) g.6:53883843G>A,c.17G>A,p.R6H
MLH3(NM_001040108,mutL homolog 3,1453aa) g.14:75516210A>T,c.149T>A,p.F50Y
MLH3(NM_001040108,mutL homolog 3,1453aa) g.14:75515875T>C,c.484A>G,p.M162V
MLH3(NM_001040108,mutL homolog 3,1453aa) g.14:75515668T>G,c.691A>C,p.K231Q
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