基因名 突变
PVRL1(NM_002855,poliovirus receptor-related 1 (herpesvirus entry mediator C),517aa) g.11:119548402C>T,c.596G>A,p.R199Q
PVRL1(NM_002855,poliovirus receptor-related 1 (herpesvirus entry mediator C),517aa) g.11:119548369C>T,c.629G>A,p.R210H
PVRL1(NM_002855,poliovirus receptor-related 1 (herpesvirus entry mediator C),517aa) g.11:119547870C>T,c.793G>A,p.V265M
PVRL1(NM_002855,poliovirus receptor-related 1 (herpesvirus entry mediator C),517aa) g.11:119545899G>A,c.973C>T,p.R325C
PVRL1(NM_002855,poliovirus receptor-related 1 (herpesvirus entry mediator C),517aa) g.11:119545884C>T,c.988G>A,p.E330K
PVRL1(NM_002855,poliovirus receptor-related 1 (herpesvirus entry mediator C),517aa) g.11:119535677_119535678insCCT,c.1333_1334insAGG,p.445ins1aa
PVRIG(NM_024070,poliovirus receptor related immunoglobulin domain containing,326aa) g.7:99818851G>T,c.958G>T,p.E320X
PVRIG(NM_024070,poliovirus receptor related immunoglobulin domain containing,326aa) g.7:99818815_99818816insCT,c.922_923insCT,p.308fs
PVRIG(NM_024070,poliovirus receptor related immunoglobulin domain containing,326aa) g.7:99818642C>T,c.749C>T,p.P250L
PVRIG(NM_024070,poliovirus receptor related immunoglobulin domain containing,326aa) g.7:99818296G>A,c.596G>A,p.R199H
PVRIG(NM_024070,poliovirus receptor related immunoglobulin domain containing,326aa) g.7:99818284G>A,c.584G>A,p.R195Q
PVRIG(NM_024070,poliovirus receptor related immunoglobulin domain containing,326aa) g.7:99818084C>A,c.466C>A,p.P156T
PVRIG(NM_024070,poliovirus receptor related immunoglobulin domain containing,326aa) g.7:99818070C>T,c.452C>T,p.P151L
PVRIG(NM_024070,poliovirus receptor related immunoglobulin domain containing,326aa) g.7:99817878C>T,c.260C>T,p.T87M
PVRIG(NM_024070,poliovirus receptor related immunoglobulin domain containing,326aa) g.7:99817859A>G,c.241A>G,p.N81D
PVRIG(NM_024070,poliovirus receptor related immunoglobulin domain containing,326aa) g.7:99817649C>T,c.116C>T,p.A39V
PVRIG(NM_024070,poliovirus receptor related immunoglobulin domain containing,326aa) g.7:99817585G>T,c.52G>T,p.E18X
PUSL1(NM_153339,pseudouridylate synthase-like 1,303aa) g.1:1246390C>G,c.801C>G,p.H267Q
PUSL1(NM_153339,pseudouridylate synthase-like 1,303aa) g.1:1246373G>A,c.784G>A,p.D262N
PUSL1(NM_153339,pseudouridylate synthase-like 1,303aa) g.1:1246319G>A,c.730G>A,p.V244M
PUSL1(NM_153339,pseudouridylate synthase-like 1,303aa) g.1:1246021C>T,c.652C>T,p.R218W
PUSL1(NM_153339,pseudouridylate synthase-like 1,303aa) g.1:1246021C>G,c.652C>G,p.R218G
PUSL1(NM_153339,pseudouridylate synthase-like 1,303aa) g.1:1246018C>G,c.649C>G,p.L217V
PUSL1(NM_153339,pseudouridylate synthase-like 1,303aa) g.1:1245176C>T,c.589C>T,p.R197W
PUSL1(NM_153339,pseudouridylate synthase-like 1,303aa) g.1:1244955C>T,c.445C>T,p.R149C
PUSL1(NM_153339,pseudouridylate synthase-like 1,303aa) g.1:1244066C>G,c.43C>G,p.L15V
PUS7(NM_019042,pseudouridylate synthase 7 homolog (S. cerevisiae),661aa) g.7:105148835T>C,c.125A>G,p.K42R
PUS7(NM_019042,pseudouridylate synthase 7 homolog (S. cerevisiae),661aa) g.7:105148683A>G,c.277T>C,p.C93R
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