| 基因名 | 突变 |
|---|---|
| C9orf50(NM_199350,chromosome 9 open reading frame 50,431aa) | g.9:132381914C>T,c.601G>A,p.G201S |
| C9orf50(NM_199350,chromosome 9 open reading frame 50,431aa) | g.9:132381848G>A,c.667C>T,p.P223S |
| C9orf50(NM_199350,chromosome 9 open reading frame 50,431aa) | g.9:132377900C>T,c.743G>A,p.R248K |
| C9orf50(NM_199350,chromosome 9 open reading frame 50,431aa) | g.9:132377811C>T,c.832G>A,p.E278K |
| C9orf50(NM_199350,chromosome 9 open reading frame 50,431aa) | g.9:132377769G>C,c.874C>G,p.R292G |
| C9orf50(NM_199350,chromosome 9 open reading frame 50,431aa) | g.9:132375822C>T,c.935G>A,p.R312Q |
| C9orf50(NM_199350,chromosome 9 open reading frame 50,431aa) | g.9:132375432C>T,c.1142G>A,p.R381Q |
| C9orf50(NM_199350,chromosome 9 open reading frame 50,431aa) | g.9:132374714C>T,c.1208G>A,p.R403Q |
| C9orf50(NM_199350,chromosome 9 open reading frame 50,431aa) | g.9:132374704C>A,c.1218G>T,p.Q406H |
| C9orf50(NM_199350,chromosome 9 open reading frame 50,431aa) | g.9:132374678T>C,c.1244A>G,p.K415R |
| C9orf50(NM_199350,chromosome 9 open reading frame 50,431aa) | g.9:132374674del,c.1248del,p.416fs |
| C9orf47(NM_001001938,chromosome 9 open reading frame 47,202aa) | g.9:91606899A>G,c.605A>G,p.N202S |
| C9orf47(NM_001001938,chromosome 9 open reading frame 47,202aa) | g.9:91606812G>A,c.518G>A,p.S173N |
| C9orf47(NM_001001938,chromosome 9 open reading frame 47,202aa) | g.9:91606806C>T,c.512C>T,p.T171I |
| C9orf47(NM_001001938,chromosome 9 open reading frame 47,202aa) | g.9:91606482A>G,c.344A>G,p.D115G |
| C9orf47(NM_001001938,chromosome 9 open reading frame 47,202aa) | g.9:91606398C>G,c.260C>G,p.P87R |
| C9orf43(NM_152786,chromosome 9 open reading frame 43,461aa) | g.9:116191485A>G,c.1205A>G,p.K402R |
| C9orf43(NM_152786,chromosome 9 open reading frame 43,461aa) | g.9:116191244G>A,c.1171+1G>A,p.391Donor |
| C9orf43(NM_152786,chromosome 9 open reading frame 43,461aa) | g.9:116191205A>C,c.1133A>C,p.N378T |
| C9orf43(NM_152786,chromosome 9 open reading frame 43,461aa) | g.9:116191187C>T,c.1115C>T,p.T372M |
| C9orf43(NM_152786,chromosome 9 open reading frame 43,461aa) | g.9:116187323C>T,c.832C>T,p.R278C |
| C9orf43(NM_152786,chromosome 9 open reading frame 43,461aa) | g.9:116187311C>T,c.820C>T,p.R274X |
| C9orf43(NM_152786,chromosome 9 open reading frame 43,461aa) | g.9:116187302C>G,c.811C>G,p.P271A |
| C9orf43(NM_152786,chromosome 9 open reading frame 43,461aa) | g.9:116186544A>G,c.755A>G,p.D252G |
| C9orf43(NM_152786,chromosome 9 open reading frame 43,461aa) | g.9:116186474C>T,c.685C>T,p.L229F |
| C9orf43(NM_152786,chromosome 9 open reading frame 43,461aa) | g.9:116185703T>C,c.581T>C,p.L194S |
| C9orf43(NM_152786,chromosome 9 open reading frame 43,461aa) | g.9:116185655G>A,c.533G>A,p.R178Q |
| C9orf43(NM_152786,chromosome 9 open reading frame 43,461aa) | g.9:116181419A>G,c.319A>G,p.I107V |