基因名 突变
CT47B1(NM_001145718,cancer/testis antigen family 47, member B1,299aa) g.X:120009193G>A,c.332C>T,p.A111V
CT47B1(NM_001145718,cancer/testis antigen family 47, member B1,299aa) g.X:120009158C>T,c.367G>A,p.V123M
CT47B1(NM_001145718,cancer/testis antigen family 47, member B1,299aa) g.X:120008804T>C,c.721A>G,p.T241A
CT45A5(NM_001172288,cancer/testis antigen family 45, member A5,189aa) g.X:134948078C>T,c.247G>A,p.G83R
CT45A5(NM_001172288,cancer/testis antigen family 45, member A5,189aa) g.X:134948023T>C,c.302A>G,p.N101S
CT45A5(NM_001172288,cancer/testis antigen family 45, member A5,189aa) g.X:134948014C>T,c.311G>A,p.G104E
CT45A5(NM_001172288,cancer/testis antigen family 45, member A5,189aa) g.X:134947965T>G,c.360A>C,p.Q120H
CT45A5(NM_001172288,cancer/testis antigen family 45, member A5,189aa) g.X:134947910G>A,c.415C>T,p.R139X
CSTL1(NM_138283,cystatin-like 1,145aa) g.20:23424683T>C,c.330+2T>C,p.110Donor
CSTL1(NM_138283,cystatin-like 1,145aa) g.20:23424638C>T,c.287C>T,p.T96M
CSTL1(NM_138283,cystatin-like 1,145aa) g.20:23424613T>C,c.262T>C,p.W88R
CSTL1(NM_138283,cystatin-like 1,145aa) g.20:23424608T>C,c.257T>C,p.I86T
CSTL1(NM_138283,cystatin-like 1,145aa) g.20:23424569A>G,c.220-2A>G,p.74Acceptor
CSTL1(NM_138283,cystatin-like 1,145aa) g.20:23421101G>A,c.197G>A,p.R66K
CSTL1(NM_138283,cystatin-like 1,145aa) g.20:23421089A>T,c.185A>T,p.Y62F
CSTL1(NM_138283,cystatin-like 1,145aa) g.20:23421079A>G,c.175A>G,p.T59A
CSTF2T(NM_015235,cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant,616aa) g.10:53458664C>T,c.646G>A,p.G216S
CSTF2T(NM_015235,cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant,616aa) g.10:53458609G>A,c.701C>T,p.P234L
CSTF2T(NM_015235,cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant,616aa) g.10:53458060G>A,c.1250C>T,p.A417V
CSTF2T(NM_015235,cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant,616aa) g.10:53457670C>A,c.1640G>T,p.G547V
CSTF2(NM_001325,cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa,577aa) g.X:100088436C>T,c.1475C>T,p.A492V
CSTF2(NM_001325,cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa,577aa) g.X:100079227C>G,c.683C>G,p.A228G
CSTB(NM_000100,cystatin B (stefin B),98aa) g.21:45194586C>T,c.121G>A,p.V41M
CSTA(NM_005213,cystatin A (stefin A),98aa) g.3:122060404C>T,c.287C>T,p.T96M
CSTA(NM_005213,cystatin A (stefin A),98aa) g.3:122056432C>T,c.105C>T,p.Y35Y
CST9(NM_001008693,cystatin 9 (testatin),159aa) g.20:23586497G>A,c.5C>T,p.S2L
CST9(NM_001008693,cystatin 9 (testatin),159aa) g.20:23586366T>C,c.136A>G,p.M46V
CST9(NM_001008693,cystatin 9 (testatin),159aa) g.20:23586360G>A,c.142C>T,p.L48F
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