| 基因名 | 突变 |
|---|---|
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215821909C>T,c.14543G>A,p.R4848Q |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215821055T>A,c.14600A>T,p.H4867L |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215821013C>G,c.14642G>C,p.S4881T |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215820993T>A,c.14662A>T,p.T4888S |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215820992G>A,c.14663C>T,p.T4888M |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215820915C>T,c.14740G>A,p.E4914K |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215820902G>A,c.14753C>T,p.T4918M |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215808022T>C,c.15076A>G,p.K5026E |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215808007G>A,c.15091C>T,p.R5031W |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215802301C>T,c.15374G>A,p.R5125H |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215802248G>A,c.15427C>T,p.R5143C |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215799170T>C,c.15562A>G,p.S5188G |
| USH1G(NM_173477,Usher syndrome 1G (autosomal recessive),461aa) | g.17:72919086G>A,c.83C>T,p.P28L |
| USH1G(NM_173477,Usher syndrome 1G (autosomal recessive),461aa) | g.17:72916543T>C,c.388A>G,p.K130E |
| USH1G(NM_173477,Usher syndrome 1G (autosomal recessive),461aa) | g.17:72916507C>T,c.424G>A,p.E142K |
| USH1G(NM_173477,Usher syndrome 1G (autosomal recessive),461aa) | g.17:72916368C>A,c.563G>T,p.R188L |
| USH1G(NM_173477,Usher syndrome 1G (autosomal recessive),461aa) | g.17:72916365C>T,c.566G>A,p.R189Q |
| USH1G(NM_173477,Usher syndrome 1G (autosomal recessive),461aa) | g.17:72916072T>C,c.859A>G,p.T287A |
| USH1C(NM_153676,Usher syndrome 1C (autosomal recessive, severe),899aa) | g.11:17554824C>T,c.82G>A,p.D28N |
| USH1C(NM_153676,Usher syndrome 1C (autosomal recessive, severe),899aa) | g.11:17548863C>T,c.403G>A,p.V135I |
| USH1C(NM_153676,Usher syndrome 1C (autosomal recessive, severe),899aa) | g.11:17548860G>A,c.406C>T,p.R136W |
| USH1C(NM_153676,Usher syndrome 1C (autosomal recessive, severe),899aa) | g.11:17533463G>A,c.1399C>T,p.R467W |
| USH1C(NM_153676,Usher syndrome 1C (autosomal recessive, severe),899aa) | g.11:17532052C>T,c.1430G>A,p.R477Q |
| USH1C(NM_153676,Usher syndrome 1C (autosomal recessive, severe),899aa) | g.11:17531366G>A,c.1550C>T,p.P517L |
| USH1C(NM_153676,Usher syndrome 1C (autosomal recessive, severe),899aa) | g.11:17531325G>A,c.1591C>T,p.R531C |
| USH1C(NM_153676,Usher syndrome 1C (autosomal recessive, severe),899aa) | g.11:17531324C>T,c.1592G>A,p.R531H |
| USH1C(NM_153676,Usher syndrome 1C (autosomal recessive, severe),899aa) | g.11:17531009C>T,c.1907G>A,p.R636H |
| USH1C(NM_153676,Usher syndrome 1C (autosomal recessive, severe),899aa) | g.11:17519780C>T,c.2419G>A,p.G807S |