基因名 突变
SAMD9L(NM_152703,sterile alpha motif domain containing 9-like,1584aa) g.7:92762824C>T,c.2461G>A,p.V821I
SAMD9L(NM_152703,sterile alpha motif domain containing 9-like,1584aa) g.7:92762257G>C,c.3028C>G,p.Q1010E
SAMD9L(NM_152703,sterile alpha motif domain containing 9-like,1584aa) g.7:92761875C>G,c.3410G>C,p.G1137A
SAMD9L(NM_152703,sterile alpha motif domain containing 9-like,1584aa) g.7:92760892G>A,c.4393C>T,p.R1465C
SAMD9L(NM_152703,sterile alpha motif domain containing 9-like,1584aa) g.7:92760891C>T,c.4394G>A,p.R1465H
SAMD9L(NM_152703,sterile alpha motif domain containing 9-like,1584aa) g.7:92760823C>T,c.4462G>A,p.V1488I
SAMD9L(NM_152703,sterile alpha motif domain containing 9-like,1584aa) g.7:92760738T>G,c.4547A>C,p.N1516T
SAMD9L(NM_152703,sterile alpha motif domain containing 9-like,1584aa) g.7:92760714C>T,c.4571G>A,p.R1524H
SAMD8(NM_144660,sterile alpha motif domain containing 8,326aa) g.10:76910714G>A,c.428G>A,p.R143Q
SAMD8(NM_144660,sterile alpha motif domain containing 8,326aa) g.10:76910529T>A,c.243T>A,p.D81E
SAMD7(NM_182610,sterile alpha motif domain containing 7,446aa) g.3:169644710G>C,c.660G>C,p.E220D
SAMD7(NM_182610,sterile alpha motif domain containing 7,446aa) g.3:169644403G>T,c.353G>T,p.G118V
SAMD7(NM_182610,sterile alpha motif domain containing 7,446aa) g.3:169639114C>T,c.199C>T,p.R67W
SAMD5(NM_001030060,sterile alpha motif domain containing 5,173aa) g.6:147885570C>T,c.500C>T,p.P167L
SAMD5(NM_001030060,sterile alpha motif domain containing 5,173aa) g.6:147830308C>T,c.244C>T,p.P82S
SAMD5(NM_001030060,sterile alpha motif domain containing 5,173aa) g.6:147830212G>C,c.148G>C,p.A50P
SAMD4B(NM_018028,sterile alpha motif domain containing 4B,694aa) g.19:39868416G>A,c.1396G>A,p.V466I
SAMD4B(NM_018028,sterile alpha motif domain containing 4B,694aa) g.19:39860754A>G,c.656A>G,p.N219S
SAMD4A(NM_015589,sterile alpha motif domain containing 4A,718aa) g.14:55255646G>A,c.2141G>A,p.R714Q
SAMD4A(NM_015589,sterile alpha motif domain containing 4A,718aa) g.14:55243177C>T,c.1963C>T,p.R655C
SAMD4A(NM_015589,sterile alpha motif domain containing 4A,718aa) g.14:55227152G>T,c.1450G>T,p.A484S
SAMD4A(NM_015589,sterile alpha motif domain containing 4A,718aa) g.14:55227093C>T,c.1391C>T,p.S464L
SAMD4A(NM_015589,sterile alpha motif domain containing 4A,718aa) g.14:55226985G>A,c.1283G>A,p.R428H
SAMD4A(NM_015589,sterile alpha motif domain containing 4A,718aa) g.14:55169289A>C,c.706A>C,p.T236P
SAMD4A(NM_015589,sterile alpha motif domain containing 4A,718aa) g.14:55169280G>A,c.697G>A,p.G233R
SAMD4A(NM_015589,sterile alpha motif domain containing 4A,718aa) g.14:55169050_55169051insCAG,c.467_468insCAG,p.156ins1aa
SAMD4A(NM_015589,sterile alpha motif domain containing 4A,718aa) g.14:55168914C>G,c.331C>G,p.H111D
SAMD4A(NM_015589,sterile alpha motif domain containing 4A,718aa) g.14:55168869G>A,c.286G>A,p.D96N
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