| 基因名 | 突变 |
|---|---|
| USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) | g.19:17367380C>T,c.1370G>A,p.R457H |
| USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) | g.19:17367324G>A,c.1426C>T,p.R476X |
| USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) | g.19:17366313C>T,c.1573G>A,p.V525M |
| USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) | g.19:17362479G>A,c.1834C>T,p.R612C |
| USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) | g.19:17362404A>G,c.1909T>C,p.C637R |
| USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) | g.19:17361116G>A,c.2030C>T,p.A677V |
| USHBP1(NM_031941,Usher syndrome 1C binding protein 1,703aa) | g.19:17361063G>T,c.2083C>A,p.P695T |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216595306C>T,c.373G>A,p.A125T |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216538391C>T,c.688G>A,p.V230M |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216500996C>T,c.785G>A,p.G262D |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216498793A>G,c.997T>C,p.S333P |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216498742C>T,c.1048G>A,p.V350I |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216497654G>A,c.1184C>T,p.T395M |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216496932C>G,c.1434G>C,p.E478D |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216465694G>C,c.1663C>G,p.L555V |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216462716C>T,c.1877G>A,p.R626Q |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216462695G>A,c.1898C>T,p.S633L |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216462662T>A,c.1931A>T,p.D644V |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216424360T>C,c.2052A>G,p.Q684Q |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216424275C>G,c.2137G>C,p.G713R |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216420527G>A,c.2209C>T,p.R737X |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216420437del,c.2299del,p.767fs |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216420214G>T,c.2522C>A,p.S841Y |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216420103C>T,c.2633G>A,p.R878H |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216419944C>T,c.2792G>A,p.C931Y |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216419934A>C,c.2802T>G,p.C934W |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216390763G>T,c.3123C>A,p.H1041Q |
| USH2A(NM_206933,Usher syndrome 2A (autosomal recessive, mild),5202aa) | g.1:216373416A>C,c.3364T>G,p.S1122A |