| 基因名 | 突变 |
|---|---|
| STON2(NM_033104,stonin 2,905aa) | g.14:81744339del,c.1316del,p.439fs |
| STON2(NM_033104,stonin 2,905aa) | g.14:81744076C>T,c.1579G>A,p.V527M |
| STON2(NM_033104,stonin 2,905aa) | g.14:81744013G>A,c.1642C>T,p.R548C |
| STON2(NM_033104,stonin 2,905aa) | g.14:81743718C>T,c.1937G>A,p.R646H |
| STON2(NM_033104,stonin 2,905aa) | g.14:81743712T>C,c.1943A>G,p.H648R |
| STON2(NM_033104,stonin 2,905aa) | g.14:81743581T>C,c.2074A>G,p.T692A |
| STON2(NM_033104,stonin 2,905aa) | g.14:81743565T>C,c.2090A>G,p.N697S |
| STON2(NM_033104,stonin 2,905aa) | g.14:81737076A>C,c.2551T>G,p.S851A |
| STON2(NM_033104,stonin 2,905aa) | g.14:81736944A>G,c.2683T>C,p.F895L |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48897081G>A,c.3311G>A,p.S1104N |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48896955A>G,c.3185A>G,p.N1062S |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48896927G>A,c.3157G>A,p.V1053I |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48896897A>G,c.3127A>G,p.T1043A |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48896894G>A,c.3124G>A,p.V1042I |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48873978A>G,c.2887A>G,p.N963D |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48873925A>G,c.2834A>G,p.Y945C |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48848036G>A,c.2180G>A,p.R727Q |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48809682G>A,c.1910G>A,p.R637Q |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48809609C>G,c.1837C>G,p.P613A |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48809593G>T,c.1821G>T,p.Q607H |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48809513G>A,c.1741G>A,p.A581T |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48809445A>G,c.1673A>G,p.Y558C |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48809372G>T,c.1600G>T,p.V534L |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48809255G>A,c.1483G>A,p.E495K |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48808832T>C,c.1060T>C,p.Y354H |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48808818T>C,c.1046T>C,p.I349T |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48808302G>A,c.530G>A,p.R177Q |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48808152G>C,c.380G>C,p.R127T |