| 基因名 | 突变 |
|---|---|
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29886509G>T,c.2880G>T,p.E960D |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29886382A>G,c.2753A>G,p.E918G |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29886360C>T,c.2731C>T,p.P911S |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29886343C>T,c.2714C>T,p.T905I |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29886118C>T,c.2489C>T,p.P830L |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29886043A>C,c.2414A>C,p.E805A |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29885956C>G,c.2327C>G,p.S776C |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29885859_29885876del,c.2230_2247del,p.744_749del |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29885686C>A,c.2057C>A,p.A686E |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29885638T>A,c.2009T>A,p.V670E |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29885567_29885568insAAGTCCCCTGAGAAGGCC,c.1938_1939insAAGTCCCCTGAGAAGGCC,p.646_647ins6aa |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29885554C>T,c.1925C>T,p.T642M |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29885473C>T,c.1844C>T,p.P615L |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29885198G>C,c.1569G>C,p.E523D |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29885016G>A,c.1387G>A,p.E463K |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29881766G>A,c.1138G>A,p.A380T |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29879534C>A,c.1054C>A,p.R352S |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29879516C>T,c.1036C>T,p.R346C |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29879414C>T,c.934C>T,p.R312C |
| NEFH(NM_021076,neurofilament, heavy polypeptide,1020aa) | g.22:29876996G>A,c.745G>A,p.G249S |
| NEDD9(NM_001142393,neural precursor cell expressed, developmentally down-regulated 9,834aa) | g.6:11306230T>C,c.7A>G,p.T3A |
| NEDD9(NM_001142393,neural precursor cell expressed, developmentally down-regulated 9,834aa) | g.6:11213709T>A,c.264A>T,p.Q88H |
| NEDD9(NM_001142393,neural precursor cell expressed, developmentally down-regulated 9,834aa) | g.6:11213566G>T,c.407C>A,p.P136Q |
| NEDD9(NM_001142393,neural precursor cell expressed, developmentally down-regulated 9,834aa) | g.6:11191434T>C,c.668A>G,p.Y223C |
| NEDD9(NM_001142393,neural precursor cell expressed, developmentally down-regulated 9,834aa) | g.6:11191320T>C,c.782A>G,p.Y261C |
| NEDD9(NM_001142393,neural precursor cell expressed, developmentally down-regulated 9,834aa) | g.6:11190757G>A,c.1345C>T,p.R449C |
| NEDD9(NM_001142393,neural precursor cell expressed, developmentally down-regulated 9,834aa) | g.6:11190513C>T,c.1589G>A,p.R530Q |
| NEDD9(NM_001142393,neural precursor cell expressed, developmentally down-regulated 9,834aa) | g.6:11190424C>T,c.1678G>A,p.G560S |