| 基因名 | 突变 |
|---|---|
| STAB2(NM_017564,stabilin 2,2551aa) | g.12:103988213G>A,c.256G>A,p.G86R |
| STAB2(NM_017564,stabilin 2,2551aa) | g.12:103984799G>A,c.206G>A,p.R69Q |
| STAB2(NM_017564,stabilin 2,2551aa) | g.12:103984757C>T,c.164C>T,p.P55L |
| STAB2(NM_017564,stabilin 2,2551aa) | g.12:103984732G>A,c.139G>A,p.A47T |
| STAB2(NM_017564,stabilin 2,2551aa) | g.12:103984724G>A,c.131G>A,p.R44Q |
| STAB2(NM_017564,stabilin 2,2551aa) | g.12:103981293G>T,c.39G>T,p.L13F |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52558008T>C,c.7517T>C,p.M2506T |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52557989C>T,c.7498C>T,p.R2500C |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52557921C>T,c.7430C>T,p.A2477V |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52557693G>A,c.7316G>A,p.R2439H |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52557277G>A,c.7060G>A,p.D2354N |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52556909G>A,c.6863G>A,p.R2288H |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52556890A>G,c.6844A>G,p.I2282V |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52556370G>A,c.6490G>A,p.A2164T |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52556173G>A,c.6392G>A,p.R2131Q |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52556127A>G,c.6346A>G,p.T2116A |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52555907C>T,c.6211C>T,p.R2071C |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52554531G>A,c.5615G>A,p.R1872H |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52554304G>C,c.5497G>C,p.A1833P |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52553551G>A,c.5206G>A,p.G1736S |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52551973C>T,c.4715C>T,p.A1572V |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52551970C>T,c.4712C>T,p.T1571I |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52551966G>A,c.4708G>A,p.D1570N |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52551608C>T,c.4606C>T,p.R1536W |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52551582G>A,c.4580G>A,p.R1527H |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52551566G>C,c.4564G>C,p.V1522L |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52550763G>A,c.4342G>A,p.G1448S |
| STAB1(NM_015136,stabilin 1,2570aa) | g.3:52550722C>T,c.4301C>T,p.S1434L |