| 基因名 | 突变 |
|---|---|
| NAPG(NM_003826,N-ethylmaleimide-sensitive factor attachment protein, gamma,312aa) | g.18:10540393G>A,c.503G>A,p.R168H |
| NAPG(NM_003826,N-ethylmaleimide-sensitive factor attachment protein, gamma,312aa) | g.18:10540342G>A,c.452G>A,p.R151Q |
| NAPG(NM_003826,N-ethylmaleimide-sensitive factor attachment protein, gamma,312aa) | g.18:10539783G>A,c.283G>A,p.V95I |
| NAPG(NM_003826,N-ethylmaleimide-sensitive factor attachment protein, gamma,312aa) | g.18:10539774C>T,c.274C>T,p.P92S |
| NAPEPLD(NM_001122838,N-acyl phosphatidylethanolamine phospholipase D,393aa) | g.7:102760511A>C,c.454T>G,p.S152A |
| NAPEPLD(NM_001122838,N-acyl phosphatidylethanolamine phospholipase D,393aa) | g.7:102755545T>C,c.1018A>G,p.M340V |
| NAPEPLD(NM_001122838,N-acyl phosphatidylethanolamine phospholipase D,393aa) | g.7:102743893C>T,c.1165G>A,p.D389N |
| NAPB(NM_022080,N-ethylmaleimide-sensitive factor attachment protein, beta,298aa) | g.20:23401975T>C,c.65A>G,p.K22R |
| NAPB(NM_022080,N-ethylmaleimide-sensitive factor attachment protein, beta,298aa) | g.20:23375624T>C,c.355A>G,p.I119V |
| NAPB(NM_022080,N-ethylmaleimide-sensitive factor attachment protein, beta,298aa) | g.20:23358035T>C,c.875A>G,p.E292G |
| NAPA(NM_003827,N-ethylmaleimide-sensitive factor attachment protein, alpha,295aa) | g.19:47996678C>T,c.415G>A,p.E139K |
| NAPA(NM_003827,N-ethylmaleimide-sensitive factor attachment protein, alpha,295aa) | g.19:47995367T>C,c.571A>G,p.N191D |
| NAP1L5(NM_153757,nucleosome assembly protein 1-like 5,182aa) | g.4:89618479C>T,c.427G>A,p.E143K |
| NAP1L4(NM_005969,nucleosome assembly protein 1-like 4,375aa) | g.11:2991124G>A,c.443C>T,p.A148V |
| NAP1L4(NM_005969,nucleosome assembly protein 1-like 4,375aa) | g.11:2979679G>A,c.842C>T,p.T281M |
| NAP1L3(NM_004538,nucleosome assembly protein 1-like 3,506aa) | g.X:92928135C>T,c.169G>A,p.G57S |
| NAP1L3(NM_004538,nucleosome assembly protein 1-like 3,506aa) | g.X:92928114T>C,c.190A>G,p.S64G |
| NAP1L3(NM_004538,nucleosome assembly protein 1-like 3,506aa) | g.X:92927634G>C,c.670C>G,p.P224A |
| NAP1L3(NM_004538,nucleosome assembly protein 1-like 3,506aa) | g.X:92927498G>C,c.806C>G,p.T269R |
| NAP1L3(NM_004538,nucleosome assembly protein 1-like 3,506aa) | g.X:92927378T>C,c.926A>G,p.K309R |
| NAP1L2(NM_021963,nucleosome assembly protein 1-like 2,460aa) | g.X:72433774C>T,c.555G>A,p.M185I |
| NAP1L2(NM_021963,nucleosome assembly protein 1-like 2,460aa) | g.X:72433664_72433666del,c.663_665del,p.221_222del |
| NAP1L2(NM_021963,nucleosome assembly protein 1-like 2,460aa) | g.X:72433482del,c.847del,p.283fs |
| NAP1L2(NM_021963,nucleosome assembly protein 1-like 2,460aa) | g.X:72432966C>T,c.1363G>A,p.V455I |
| NANS(NM_018946,N-acetylneuraminic acid synthase,359aa) | g.9:100845320del,c.1063del,p.355fs |
| NANS(NM_018946,N-acetylneuraminic acid synthase,359aa) | g.9:100843285G>A,c.791G>A,p.R264Q |
| NANS(NM_018946,N-acetylneuraminic acid synthase,359aa) | g.9:100843194G>A,c.700G>A,p.V234M |
| NANS(NM_018946,N-acetylneuraminic acid synthase,359aa) | g.9:100839202G>A,c.351G>A,p.M117I |