| 基因名 | 突变 |
|---|---|
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216373405A>C,c.3375T>G,p.I1125M |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216373385C>T,c.3395G>A,p.G1132D |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216363583C>T,c.4378G>A,p.G1460R |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216348764C>T,c.4457G>A,p.R1486K |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216270469G>A,c.4714C>T,p.L1572F |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216258213A>G,c.4994T>C,p.I1665T |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216258103C>T,c.5104G>A,p.V1702M |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216246607G>A,c.5608C>T,p.R1870W |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216246591T>C,c.5624A>G,p.N1875S |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216246517A>C,c.5698T>G,p.C1900G |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216243634G>C,c.5858C>G,p.A1953G |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216243539C>T,c.5953G>A,p.E1985K |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216243517T>C,c.5975A>G,p.Y1992C |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216243491G>A,c.6001C>T,p.R2001C |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216221905T>C,c.6134A>G,p.H2045R |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216219858C>A,c.6240G>T,p.K2080N |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216219841G>T,c.6257C>A,p.T2086N |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216219781A>G,c.6317T>C,p.I2106T |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216173845T>C,c.6385A>G,p.T2129A |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216172380A>G,c.6506T>C,p.I2169T |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216172362C>T,c.6524G>A,p.R2175H |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216172299C>G,c.6587G>C,p.S2196T |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216172258G>C,c.6628C>G,p.P2210A |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216166484A>T,c.6683T>A,p.V2228E |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216166454T>G,c.6713A>C,p.E2238A |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216144049C>T,c.6875G>A,p.R2292H |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216143995G>A,c.6929C>T,p.T2310M |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216138781A>G,c.6998T>C,p.V2333A |