基因名 突变
FAM186B(NM_032130,family with sequence similarity 186, member B,893aa) g.12:49982238G>A,c.2533C>T,p.R845C
FAM186B(NM_032130,family with sequence similarity 186, member B,893aa) g.12:49981514C>G,c.2556G>C,p.E852D
FAM186B(NM_032130,family with sequence similarity 186, member B,893aa) g.12:49981439G>C,c.2631C>G,p.D877E
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50757017T>G,c.323A>C,p.N108T
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50754634G>A,c.488C>T,p.P163L
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50754577G>C,c.545C>G,p.S182C
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50754563T>G,c.559A>C,p.K187Q
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50750025C>T,c.590G>A,p.R197K
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50749739_50749740del,c.875_876del,p.292fs
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50749554G>T,c.1061C>A,p.P354H
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50749375T>A,c.1240A>T,p.T414S
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50749227T>G,c.1388A>C,p.K463T
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50749221G>C,c.1394C>G,p.A465G
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50749162C>T,c.1453G>A,p.V485I
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50748940G>A,c.1675C>T,p.R559C
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50748884C>G,c.1731G>C,p.E577D
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50748169T>G,c.2446A>C,p.K816Q
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50748127C>T,c.2488G>A,p.G830S
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50748055A>G,c.2560T>C,p.Y854H
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50748021del,c.2594del,p.865fs
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50747328C>T,c.3287G>A,p.G1096E
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50747005T>C,c.3610A>G,p.R1204G
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50746975C>A,c.3640G>T,p.E1214X
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50746917A>G,c.3698T>C,p.L1233P
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50746514G>C,c.4101C>G,p.H1367Q
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50746372G>A,c.4243C>T,p.Q1415X
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50746348A>G,c.4267T>C,p.F1423L
FAM186A(NM_001145475,family with sequence similarity 186, member A,2351aa) g.12:50746098A>G,c.4517T>C,p.L1506P
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