基因名 突变
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88787727C>T,c.5515G>A,p.E1839K
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88787673G>A,c.5569C>T,p.P1857S
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88787652G>A,c.5590C>T,p.R1864C
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88787615C>T,c.5627G>A,p.R1876K
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88787612T>C,c.5630A>G,p.K1877R
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88787610T>C,c.5632A>G,p.K1878E
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88787608_88787610del,c.5632_5634del,p.1878del
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88787606T>C,c.5636A>G,p.E1879G
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88787097C>T,c.5728G>A,p.E1910K
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88787082G>T,c.5743C>A,p.R1915S
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88787052G>A,c.5773C>T,p.R1925W
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88783538C>T,c.6553G>A,p.A2185T
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88783233C>T,c.6734G>A,p.R2245Q
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88783100T>C,c.6793A>G,p.I2265V
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88782988C>T,c.6905G>A,p.R2302H
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88782477C>T,c.7180G>A,p.G2394S
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88782473G>A,c.7184C>T,p.A2395V
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88782417C>T,c.7240G>A,p.D2414N
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88782198C>T,c.7381G>A,p.E2461K
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88782159C>T,c.7420G>A,p.V2474M
PIEZO1(NM_001142864,piezo-type mechanosensitive ion channel component 1,2521aa) g.16:88782074T>C,c.7505A>G,p.K2502R
PIDD(NM_145886,p53-induced death domain protein,910aa) g.11:804366G>A,c.23C>T,p.P8L
PIDD(NM_145886,p53-induced death domain protein,910aa) g.11:804286C>T,c.103G>A,p.G35S
PIDD(NM_145886,p53-induced death domain protein,910aa) g.11:803468T>A,c.415A>T,p.T139S
PIDD(NM_145886,p53-induced death domain protein,910aa) g.11:803401G>A,c.482C>T,p.S161F
PIDD(NM_145886,p53-induced death domain protein,910aa) g.11:802802G>A,c.799C>T,p.R267W
PIDD(NM_145886,p53-induced death domain protein,910aa) g.11:802774C>T,c.827G>A,p.R276Q
PIDD(NM_145886,p53-induced death domain protein,910aa) g.11:802379T>C,c.992A>G,p.Q331R
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