| 基因名 | 突变 |
|---|---|
| MOCS1(NM_005943,molybdenum cofactor synthesis 1,385aa) | g.6:39876848C>T,c.1133G>A,p.R378Q |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33848581T>C,c.2600T>C,p.V867A |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33840130C>T,c.2401C>T,p.R801C |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33837020C>T,c.2254C>T,p.R752W |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33836970A>G,c.2204A>G,p.N735S |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33831189C>A,c.2107C>A,p.H703N |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33800060C>T,c.1840C>T,p.R614W |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33795732C>T,c.1589C>T,p.S530L |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33795723G>A,c.1580G>A,p.R527H |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33795659G>A,c.1516G>A,p.G506R |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33795608C>T,c.1465C>T,p.R489C |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33793426T>C,c.1316T>C,p.M439T |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33793419A>G,c.1309A>G,p.N437D |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33793365C>T,c.1255C>T,p.R419X |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33785139G>A,c.1118G>A,p.R373Q |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33785138C>T,c.1117C>T,p.R373W |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33785093G>A,c.1072G>A,p.V358M |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33780188C>T,c.842C>T,p.A281V |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33780032C>T,c.686C>T,p.T229M |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33780020A>G,c.674A>G,p.H225R |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33780001G>A,c.655G>A,p.V219I |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33779998G>A,c.652G>A,p.E218K |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33779896A>G,c.550A>G,p.S184G |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33779858C>T,c.512C>T,p.P171L |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33779855C>T,c.509C>T,p.T170I |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33779777G>A,c.431G>A,p.R144H |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33779705G>A,c.359G>A,p.S120N |
| MOCOS(NM_017947,molybdenum cofactor sulfurase,888aa) | g.18:33775222A>G,c.145A>G,p.T49A |