| 基因名 | 突变 |
|---|---|
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72938100T>C,c.541T>C,p.S181P |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72937851G>A,c.383G>A,p.R128Q |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72937605G>A,c.137G>A,p.R46Q |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72937559C>T,c.91C>T,p.R31X |
| OTOP2(NM_178160,otopetrin 2,562aa) | g.17:72929611A>G,c.1660A>G,p.S554G |
| OTOP2(NM_178160,otopetrin 2,562aa) | g.17:72929560G>A,c.1609G>A,p.V537I |
| OTOP2(NM_178160,otopetrin 2,562aa) | g.17:72929516C>G,c.1565C>G,p.T522R |
| OTOP2(NM_178160,otopetrin 2,562aa) | g.17:72927171G>A,c.1441G>A,p.V481I |
| OTOP2(NM_178160,otopetrin 2,562aa) | g.17:72927168A>G,c.1438A>G,p.I480V |
| OTOP2(NM_178160,otopetrin 2,562aa) | g.17:72927123G>T,c.1393G>T,p.G465W |
| OTOP2(NM_178160,otopetrin 2,562aa) | g.17:72926863G>A,c.1133G>A,p.G378D |
| OTOP2(NM_178160,otopetrin 2,562aa) | g.17:72926823C>T,c.1093C>T,p.R365C |
| OTOP2(NM_178160,otopetrin 2,562aa) | g.17:72926782G>A,c.1052G>A,p.R351H |
| OTOP2(NM_178160,otopetrin 2,562aa) | g.17:72926766G>A,c.1036G>A,p.G346S |
| OTOP2(NM_178160,otopetrin 2,562aa) | g.17:72926682G>A,c.952G>A,p.G318R |
| OTOP2(NM_178160,otopetrin 2,562aa) | g.17:72923866G>A,c.616G>A,p.A206T |
| OTOP2(NM_178160,otopetrin 2,562aa) | g.17:72923351G>A,c.484G>A,p.V162I |
| OTOP2(NM_178160,otopetrin 2,562aa) | g.17:72921719T>C,c.382T>C,p.F128L |
| OTOP1(NM_177998,otopetrin 1,612aa) | g.4:4228513C>A,c.79G>T,p.A27S |
| OTOP1(NM_177998,otopetrin 1,612aa) | g.4:4228464G>A,c.128C>T,p.A43V |
| OTOP1(NM_177998,otopetrin 1,612aa) | g.4:4228425T>C,c.167A>G,p.K56R |
| OTOP1(NM_177998,otopetrin 1,612aa) | g.4:4228410A>G,c.182T>C,p.L61P |
| OTOP1(NM_177998,otopetrin 1,612aa) | g.4:4228276A>G,c.316T>C,p.W106R |
| OTOP1(NM_177998,otopetrin 1,612aa) | g.4:4228275C>T,c.317G>A,p.W106X |
| OTOP1(NM_177998,otopetrin 1,612aa) | g.4:4228274_4228282del,c.310_318del,p.104_106del |
| OTOP1(NM_177998,otopetrin 1,612aa) | g.4:4228251C>G,c.341G>C,p.S114T |
| OTOP1(NM_177998,otopetrin 1,612aa) | g.4:4228192G>T,c.400C>A,p.R134S |
| OTOP1(NM_177998,otopetrin 1,612aa) | g.4:4207798C>A,c.599+1G>T,p.200Donor |