| 基因名 | 突变 |
|---|---|
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14988868A>G,c.3458A>G,p.E1153G |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14983049A>T,c.3421A>T,p.I1141F |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14982959G>T,c.3331G>T,p.V1111F |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14980649A>G,c.3254A>G,p.N1085S |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14980636G>A,c.3241G>A,p.E1081K |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14972606C>T,c.2672C>T,p.P891L |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14970636G>A,c.2632G>A,p.V878I |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14970589C>T,c.2585C>T,p.A862V |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14969026G>A,c.2188G>A,p.E730K |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14969016T>A,c.2178T>A,p.N726K |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14958523A>G,c.1477A>G,p.M493V |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14958514A>G,c.1468A>G,p.N490D |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14956982G>A,c.1333G>A,p.V445M |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14951502A>G,c.1210A>G,p.I404V |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14951467A>G,c.1175A>G,p.K392R |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14951389G>A,c.1097G>A,p.R366H |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14947804A>G,c.884A>G,p.Y295C |
| NOM1(NM_138400,nucleolar protein with MIF4G domain 1,860aa) | g.7:156762248G>A,c.2434G>A,p.V812M |
| NOM1(NM_138400,nucleolar protein with MIF4G domain 1,860aa) | g.7:156762224G>C,c.2410G>C,p.V804L |
| NOM1(NM_138400,nucleolar protein with MIF4G domain 1,860aa) | g.7:156761826C>T,c.2344C>T,p.R782X |
| NOM1(NM_138400,nucleolar protein with MIF4G domain 1,860aa) | g.7:156761818G>A,c.2336G>A,p.R779H |
| NOM1(NM_138400,nucleolar protein with MIF4G domain 1,860aa) | g.7:156759004G>A,c.2074G>A,p.V692I |
| NOM1(NM_138400,nucleolar protein with MIF4G domain 1,860aa) | g.7:156756627G>A,c.1940G>A,p.R647Q |
| NOM1(NM_138400,nucleolar protein with MIF4G domain 1,860aa) | g.7:156756623G>T,c.1936G>T,p.A646S |
| NOM1(NM_138400,nucleolar protein with MIF4G domain 1,860aa) | g.7:156755841C>T,c.1883C>T,p.T628M |
| NOM1(NM_138400,nucleolar protein with MIF4G domain 1,860aa) | g.7:156755781G>A,c.1823G>A,p.R608H |
| NOM1(NM_138400,nucleolar protein with MIF4G domain 1,860aa) | g.7:156754893C>T,c.1681C>T,p.R561C |
| NOM1(NM_138400,nucleolar protein with MIF4G domain 1,860aa) | g.7:156752722G>C,c.1486G>C,p.E496Q |