| 基因名 | 突变 |
|---|---|
| FSCN2(NM_001077182,fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus),516aa) | g.17:79495808C>T,c.251C>T,p.P84L |
| FSCN2(NM_001077182,fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus),516aa) | g.17:79495784G>A,c.227G>A,p.R76H |
| FSCN2(NM_001077182,fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus),516aa) | g.17:79495724C>T,c.167C>T,p.T56M |
| FSCN2(NM_001077182,fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus),516aa) | g.17:79495703A>C,c.146A>C,p.E49A |
| FSCN2(NM_001077182,fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus),516aa) | g.17:79495687C>T,c.130C>T,p.Q44X |
| FSCN2(NM_001077182,fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus),516aa) | g.17:79495629del,c.72del,p.24fs |
| FSCN2(NM_001077182,fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus),516aa) | g.17:79495622G>A,c.65G>A,p.R22H |
| FSCN2(NM_001077182,fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus),516aa) | g.17:79495621C>T,c.64C>T,p.R22C |
| FSCN2(NM_001077182,fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus),516aa) | g.17:79495606G>A,c.49G>A,p.V17I |
| FSCN1(NM_003088,fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus),493aa) | g.7:5644942C>T,c.1319C>T,p.A440V |
| FSCN1(NM_003088,fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus),493aa) | g.7:5643584C>T,c.1202C>T,p.T401M |
| FSCN1(NM_003088,fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus),493aa) | g.7:5643008C>T,c.953C>T,p.T318M |
| FSCN1(NM_003088,fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus),493aa) | g.7:5643002C>T,c.947C>T,p.T316M |
| FSCN1(NM_003088,fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus),493aa) | g.7:5642987C>T,c.932C>T,p.T311M |
| FSCB(NM_032135,fibrous sheath CABYR binding protein,825aa) | g.14:44975971G>A,c.220C>T,p.Q74X |
| FSCB(NM_032135,fibrous sheath CABYR binding protein,825aa) | g.14:44975964T>C,c.227A>G,p.D76G |
| FSCB(NM_032135,fibrous sheath CABYR binding protein,825aa) | g.14:44975606G>T,c.585C>A,p.H195Q |
| FSCB(NM_032135,fibrous sheath CABYR binding protein,825aa) | g.14:44975511G>A,c.680C>T,p.P227L |
| FSCB(NM_032135,fibrous sheath CABYR binding protein,825aa) | g.14:44975262G>A,c.929C>T,p.A310V |
| FSCB(NM_032135,fibrous sheath CABYR binding protein,825aa) | g.14:44975089G>C,c.1102C>G,p.L368V |
| FSCB(NM_032135,fibrous sheath CABYR binding protein,825aa) | g.14:44975052A>G,c.1139T>C,p.L380P |
| FSCB(NM_032135,fibrous sheath CABYR binding protein,825aa) | g.14:44975017C>T,c.1174G>A,p.A392T |
| FSCB(NM_032135,fibrous sheath CABYR binding protein,825aa) | g.14:44974966G>A,c.1225C>T,p.P409S |
| FSCB(NM_032135,fibrous sheath CABYR binding protein,825aa) | g.14:44974922A>T,c.1269T>A,p.D423E |
| FSCB(NM_032135,fibrous sheath CABYR binding protein,825aa) | g.14:44974879G>C,c.1312C>G,p.R438G |
| FSCB(NM_032135,fibrous sheath CABYR binding protein,825aa) | g.14:44974333C>T,c.1858G>A,p.A620T |
| FSCB(NM_032135,fibrous sheath CABYR binding protein,825aa) | g.14:44974267C>T,c.1924G>A,p.A642T |
| FSCB(NM_032135,fibrous sheath CABYR binding protein,825aa) | g.14:44974189C>A,c.2002G>T,p.A668S |