| 基因名 | 突变 |
|---|---|
| OTUB1(NM_017670,OTU domain, ubiquitin aldehyde binding 1,271aa) | g.11:63753960A>G,c.32A>G,p.Q11R |
| OTP(NM_032109,orthopedia homeobox,325aa) | g.5:76932881G>A,c.212C>T,p.A71V |
| OTP(NM_032109,orthopedia homeobox,325aa) | g.5:76932846G>T,c.247C>A,p.Q83K |
| OTP(NM_032109,orthopedia homeobox,325aa) | g.5:76932809G>A,c.284C>T,p.A95V |
| OTOS(NM_148961,otospiralin,89aa) | g.2:241078703G>A,c.154C>T,p.Q52X |
| OTOS(NM_148961,otospiralin,89aa) | g.2:241078655G>A,c.202C>T,p.R68X |
| OTOS(NM_148961,otospiralin,89aa) | g.2:241078607C>T,c.250G>A,p.V84I |
| OTOR(NM_020157,otoraplin,128aa) | g.20:16729138T>C,c.92T>C,p.L31P |
| OTOR(NM_020157,otoraplin,128aa) | g.20:16729048T>C,c.2T>C,p.M1T |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72945345G>A,c.1571G>A,p.W524X |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72943556C>T,c.1552C>T,p.L518F |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72943521G>A,c.1517G>A,p.R506Q |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72943473G>A,c.1469G>A,p.R490Q |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72943434G>A,c.1430G>A,p.R477H |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72943418G>A,c.1414G>A,p.E472K |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72943371G>A,c.1367G>A,p.R456Q |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72943278A>G,c.1274A>G,p.H425R |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72943253G>A,c.1249G>A,p.V417M |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72943208A>C,c.1204A>C,p.M402L |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72943167C>T,c.1163C>T,p.T388M |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72943151G>A,c.1147G>A,p.E383K |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72943119G>A,c.1115G>A,p.C372Y |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72943010G>A,c.1006G>A,p.V336I |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72942893G>A,c.889G>A,p.V297M |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72942798G>A,c.794G>A,p.C265Y |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72939783G>A,c.715G>A,p.E239K |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72939759A>C,c.691A>C,p.N231H |
| OTOP3(NM_001272005,otopetrin 3,578aa) | g.17:72939418G>A,c.611G>A,p.R204Q |