基因名 突变
SERPINA4(NM_006215,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4,427aa) g.14:95033417T>G,c.760T>G,p.W254G
SERPINA4(NM_006215,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4,427aa) g.14:95030231C>T,c.412C>T,p.R138C
SERPINA4(NM_006215,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4,427aa) g.14:95030172A>G,c.353A>G,p.H118R
SERPINA4(NM_006215,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4,427aa) g.14:95030112G>A,c.293G>A,p.R98H
SERPINA4(NM_006215,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4,427aa) g.14:95030018G>A,c.199G>A,p.A67T
SERPINA4(NM_006215,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4,427aa) g.14:95027832G>A,c.-18+1G>A,p.5'UTRDonor
SERPINA3(NM_001085,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3,423aa) g.14:95090119A>G,c.1240A>G,p.M414V
SERPINA3(NM_001085,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3,423aa) g.14:95088683T>C,c.923T>C,p.I308T
SERPINA3(NM_001085,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3,423aa) g.14:95085781G>A,c.893G>A,p.R298Q
SERPINA3(NM_001085,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3,423aa) g.14:95085751A>G,c.863A>G,p.E288G
SERPINA3(NM_001085,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3,423aa) g.14:95085708G>A,c.820G>A,p.A274T
SERPINA3(NM_001085,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3,423aa) g.14:95085686G>A,c.798G>A,p.L266L
SERPINA3(NM_001085,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3,423aa) g.14:95085651C>T,c.763C>T,p.R255W
SERPINA3(NM_001085,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3,423aa) g.14:95085601G>A,c.713G>A,p.W238X
SERPINA3(NM_001085,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3,423aa) g.14:95085572G>C,c.684G>C,p.Q228H
SERPINA3(NM_001085,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3,423aa) g.14:95081169G>A,c.391G>A,p.D131N
SERPINA3(NM_001085,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3,423aa) g.14:95081148C>T,c.370C>T,p.R124C
SERPINA3(NM_001085,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3,423aa) g.14:95080851C>T,c.73C>T,p.P25S
SERPINA3(NM_001085,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3,423aa) g.14:95080803G>A,c.25G>A,p.A9T
SERPINA3(NM_001085,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3,423aa) g.14:95080786G>A,c.8G>A,p.R3K
SERPINA1(NM_001127701,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1,418aa) g.14:94849558G>A,c.17C>T,p.S6L
SERPINA1(NM_001127701,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1,418aa) g.14:94849364T>G,c.211A>C,p.S71R
SERPINA1(NM_001127701,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1,418aa) g.14:94849249G>A,c.326C>T,p.T109M
SERPINA1(NM_001127701,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1,418aa) g.14:94849201C>T,c.374G>A,p.R125H
SERPINA1(NM_001127701,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1,418aa) g.14:94849061C>T,c.514G>A,p.G172R
SERPINA1(NM_001127701,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1,418aa) g.14:94849061C>A,c.514G>T,p.G172W
SERPINA1(NM_001127701,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1,418aa) g.14:94847415A>G,c.710T>C,p.V237A
SERPINA1(NM_001127701,serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1,418aa) g.14:94847407C>T,c.718G>A,p.V240M
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