| 基因名 | 突变 |
|---|---|
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216138779T>C,c.7000A>G,p.N2334D |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216138711A>C,c.7068T>G,p.N2356K |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216108128T>C,c.7130A>G,p.N2377S |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216108090C>T,c.7168G>A,p.G2390R |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216073474A>C,c.7537T>G,p.S2513A |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216062375G>A,c.7616C>T,p.P2539L |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216062306A>G,c.7685T>C,p.V2562A |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216052344C>T,c.8320G>A,p.A2774T |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216052322G>A,c.8342C>T,p.T2781I |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216052307A>G,c.8357T>C,p.F2786S |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216051206G>A,c.8575C>T,p.R2859C |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216051157C>T,c.8624G>A,p.R2875Q |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216051125G>A,c.8656C>T,p.L2886F |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216040484C>T,c.8710G>A,p.V2904I |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216019180G>T,c.9041C>A,p.T3014N |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216011445C>T,c.9259G>A,p.V3087I |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216011442C>T,c.9262G>A,p.E3088K |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216011408T>C,c.9296A>G,p.N3099S |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216011364G>A,c.9340C>T,p.P3114S |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216011361T>C,c.9343A>G,p.T3115A |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215990479C>T,c.9430G>A,p.D3144N |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215987222T>C,c.9595A>G,p.N3199D |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215972394C>T,c.9813G>A,p.M3271I |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215972292C>G,c.9915G>C,p.E3305D |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215960167T>G,c.10232A>C,p.E3411A |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215960087C>T,c.10312G>A,p.A3438T |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215956277T>C,c.10388A>G,p.D3463G |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:215956155G>C,c.10510C>G,p.P3504A |