基因名 突变
PNMT(NM_002686,phenylethanolamine N-methyltransferase,282aa) g.17:37826436G>A,c.643G>A,p.G215R
PNMT(NM_002686,phenylethanolamine N-methyltransferase,282aa) g.17:37826379C>T,c.586C>T,p.R196W
PNMT(NM_002686,phenylethanolamine N-methyltransferase,282aa) g.17:37826316G>A,c.523G>A,p.A175T
PNMT(NM_002686,phenylethanolamine N-methyltransferase,282aa) g.17:37825998C>T,c.319C>T,p.R107C
PNMT(NM_002686,phenylethanolamine N-methyltransferase,282aa) g.17:37825929G>A,c.250G>A,p.V84M
PNMAL2(NM_020709,paraneoplastic Ma antigen family-like 2,635aa) g.19:46998720C>T,c.3G>A,p.M1I
PNMAL2(NM_020709,paraneoplastic Ma antigen family-like 2,635aa) g.19:46998480C>G,c.243G>C,p.E81D
PNMAL2(NM_020709,paraneoplastic Ma antigen family-like 2,635aa) g.19:46998290C>T,c.433G>A,p.G145R
PNMAL2(NM_020709,paraneoplastic Ma antigen family-like 2,635aa) g.19:46998244C>A,c.479G>T,p.G160V
PNMAL2(NM_020709,paraneoplastic Ma antigen family-like 2,635aa) g.19:46998236C>T,c.487G>A,p.G163S
PNMAL2(NM_020709,paraneoplastic Ma antigen family-like 2,635aa) g.19:46997827C>T,c.896G>A,p.R299K
PNMAL2(NM_020709,paraneoplastic Ma antigen family-like 2,635aa) g.19:46997522C>T,c.1201G>A,p.V401I
PNMAL2(NM_020709,paraneoplastic Ma antigen family-like 2,635aa) g.19:46997489G>A,c.1234C>T,p.R412W
PNMAL2(NM_020709,paraneoplastic Ma antigen family-like 2,635aa) g.19:46997311G>A,c.1412C>T,p.A471V
PNMAL2(NM_020709,paraneoplastic Ma antigen family-like 2,635aa) g.19:46997016_46997017insCGGCCT,c.1706_1707insAGGCCG,p.569ins2aa
PNMAL2(NM_020709,paraneoplastic Ma antigen family-like 2,635aa) g.19:46996933G>A,c.1790C>T,p.A597V
PNMAL2(NM_020709,paraneoplastic Ma antigen family-like 2,635aa) g.19:46996928C>A,c.1795G>T,p.A599S
PNMAL2(NM_020709,paraneoplastic Ma antigen family-like 2,635aa) g.19:46996916C>T,c.1807G>A,p.A603T
PNMAL2(NM_020709,paraneoplastic Ma antigen family-like 2,635aa) g.19:46996834A>G,c.1889T>C,p.L630P
PNMAL1(NM_018215,paraneoplastic Ma antigen family-like 1,439aa) g.19:46974190C>T,c.103G>A,p.G35R
PNMAL1(NM_018215,paraneoplastic Ma antigen family-like 1,439aa) g.19:46974058G>T,c.235C>A,p.L79M
PNMAL1(NM_018215,paraneoplastic Ma antigen family-like 1,439aa) g.19:46974003C>T,c.290G>A,p.C97Y
PNMAL1(NM_018215,paraneoplastic Ma antigen family-like 1,439aa) g.19:46973972T>A,c.321A>T,p.L107F
PNMAL1(NM_018215,paraneoplastic Ma antigen family-like 1,439aa) g.19:46973925T>C,c.368A>G,p.D123G
PNMAL1(NM_018215,paraneoplastic Ma antigen family-like 1,439aa) g.19:46973707C>T,c.586G>A,p.V196M
PNMAL1(NM_018215,paraneoplastic Ma antigen family-like 1,439aa) g.19:46973338G>A,c.955C>T,p.P319S
PNMAL1(NM_018215,paraneoplastic Ma antigen family-like 1,439aa) g.19:46973322G>A,c.971C>T,p.A324V
PNMAL1(NM_018215,paraneoplastic Ma antigen family-like 1,439aa) g.19:46973271T>C,c.1022A>G,p.H341R
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