| 基因名 | 突变 |
|---|---|
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48808125G>T,c.353G>T,p.G118V |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48807869G>A,c.97G>A,p.G33S |
| STON1-GTF2A1L(NM_172311,STON1-GTF2A1L readthrough,1182aa) | g.2:48807796A>C,c.24A>C,p.K8N |
| STOM(NM_004099,stomatin,288aa) | g.9:124118340C>T,c.156G>A,p.M52I |
| STOM(NM_004099,stomatin,288aa) | g.9:124111397C>T,c.525+1G>A,p.175Donor |
| STOM(NM_004099,stomatin,288aa) | g.9:124103674C>T,c.673G>A,p.E225K |
| STOM(NM_004099,stomatin,288aa) | g.9:124103631A>G,c.716T>C,p.M239T |
| STOM(NM_004099,stomatin,288aa) | g.9:124103523A>G,c.824T>C,p.M275T |
| STOM(NM_004099,stomatin,288aa) | g.9:124103509T>C,c.838A>G,p.I280V |
| STOML3(NM_001144033,stomatin (EPB72)-like 3,282aa) | g.13:39546720C>T,c.214G>A,p.V72I |
| STOML3(NM_001144033,stomatin (EPB72)-like 3,282aa) | g.13:39544435C>T,c.376G>A,p.D126N |
| STOML3(NM_001144033,stomatin (EPB72)-like 3,282aa) | g.13:39544348G>A,c.463C>T,p.R155X |
| STOML2(NM_013442,stomatin (EPB72)-like 2,356aa) | g.9:35101261G>A,c.595C>T,p.R199W |
| STOML2(NM_013442,stomatin (EPB72)-like 2,356aa) | g.9:35100957C>T,c.776G>A,p.R259Q |
| STOML2(NM_013442,stomatin (EPB72)-like 2,356aa) | g.9:35100681C>T,c.847G>A,p.V283I |
| STOML1(NM_001256677,stomatin (EPB72)-like 1,355aa) | g.15:74281564C>T,c.149G>A,p.R50H |
| STOML1(NM_001256677,stomatin (EPB72)-like 1,355aa) | g.15:74281079G>A,c.329C>T,p.P110L |
| STOML1(NM_001256677,stomatin (EPB72)-like 1,355aa) | g.15:74277806C>T,c.517G>A,p.V173M |
| STOML1(NM_001256677,stomatin (EPB72)-like 1,355aa) | g.15:74277170G>A,c.704C>T,p.P235L |
| STOML1(NM_001256677,stomatin (EPB72)-like 1,355aa) | g.15:74276373G>A,c.973C>T,p.R325W |
| STMND1(NM_001190766,stathmin domain containing 1,276aa) | g.6:17129467G>A,c.536G>A,p.R179H |
| STMND1(NM_001190766,stathmin domain containing 1,276aa) | g.6:17120988C>T,c.410C>T,p.T137M |
| STMND1(NM_001190766,stathmin domain containing 1,276aa) | g.6:17115280G>A,c.169G>A,p.G57S |
| STMN4(NM_030795,stathmin-like 4,216aa) | g.8:27098667A>C,c.303T>G,p.D101E |
| STMN1(NM_001145454,stathmin 1,174aa) | g.1:26212261G>A,c.478C>T,p.L160F |
| STMN1(NM_001145454,stathmin 1,174aa) | g.1:26212220A>C,c.519T>G,p.H173Q |
| STK4(NM_006282,serine/threonine kinase 4,487aa) | g.20:43653713C>T,c.1247C>T,p.P416L |
| STK4(NM_006282,serine/threonine kinase 4,487aa) | g.20:43629911T>C,c.1064T>C,p.I355T |