| 基因名 | 突变 |
|---|---|
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215953355G>A,c.10769C>T,p.P3590L |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215953193G>A,c.10931C>T,p.T3644M |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215932093A>G,c.11233T>C,p.Y3745H |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215931944T>C,c.11382A>G,p.I3794M |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215916663C>T,c.11404G>A,p.E3802K |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215916603A>G,c.11464T>C,p.S3822P |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215916563G>A,c.11504C>T,p.T3835I |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215914826T>C,c.11602A>G,p.M3868V |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215914751G>T,c.11677C>A,p.P3893T |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215901623C>T,c.11815G>A,p.E3939K |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215901511G>A,c.11927C>T,p.T3976M |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215853705T>C,c.12080A>G,p.Q4027R |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215848894C>T,c.12359G>A,p.R4120H |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215848808A>G,c.12445T>C,p.W4149R |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215848645T>C,c.12608A>G,p.Q4203R |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215848510T>C,c.12743A>G,p.H4248R |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215848463C>T,c.12790G>A,p.E4264K |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215848154C>T,c.13099G>A,p.V4367I |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215847956C>A,c.13297G>T,p.V4433L |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215847929del,c.13324del,p.4442fs |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215847914T>C,c.13339A>G,p.M4447V |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215847889G>A,c.13364C>T,p.T4455I |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215847775C>T,c.13478G>A,p.R4493H |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215847544C>T,c.13709G>A,p.R4570H |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215844463G>C,c.13984C>G,p.Q4662E |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215844378T>C,c.14069A>G,p.Y4690C |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215844373C>T,c.14074G>A,p.G4692R |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215821939C>T,c.14513G>A,p.G4838E |