| 基因名 | 突变 |
|---|---|
| TSPAN18(NM_130783,tetraspanin 18,248aa) | g.11:44931350C>T,c.158C>T,p.T53M |
| TSPAN17(NM_012171,tetraspanin 17,332aa) | g.5:176083899T>G,c.760T>G,p.F254V |
| TSPAN17(NM_012171,tetraspanin 17,332aa) | g.5:176083789G>C,c.728G>C,p.G243A |
| TSPAN17(NM_012171,tetraspanin 17,332aa) | g.5:176079877T>C,c.419T>C,p.I140T |
| TSPAN16(NM_012466,tetraspanin 16,245aa) | g.19:11437480C>G,c.698C>G,p.S233C |
| TSPAN16(NM_012466,tetraspanin 16,245aa) | g.19:11437473_11437474insG,c.691_692insG,p.231fs |
| TSPAN16(NM_012466,tetraspanin 16,245aa) | g.19:11411907G>A,c.373G>A,p.V125M |
| TSPAN16(NM_012466,tetraspanin 16,245aa) | g.19:11409560A>G,c.280A>G,p.M94V |
| TSPAN16(NM_012466,tetraspanin 16,245aa) | g.19:11408912T>C,c.164T>C,p.L55P |
| TSPAN16(NM_012466,tetraspanin 16,245aa) | g.19:11408905T>G,c.157T>G,p.Y53D |
| TSPAN16(NM_012466,tetraspanin 16,245aa) | g.19:11408839G>C,c.91G>C,p.G31R |
| TSPAN15(NM_012339,tetraspanin 15,294aa) | g.10:71266676G>A,c.827G>A,p.G276D |
| TSPAN15(NM_012339,tetraspanin 15,294aa) | g.10:71265955A>G,c.694A>G,p.T232A |
| TSPAN15(NM_012339,tetraspanin 15,294aa) | g.10:71255378G>A,c.386G>A,p.R129Q |
| TSPAN15(NM_012339,tetraspanin 15,294aa) | g.10:71244945G>A,c.331G>A,p.V111M |
| TSPAN15(NM_012339,tetraspanin 15,294aa) | g.10:71243629A>T,c.279A>T,p.Q93H |
| TSPAN14(NM_030927,tetraspanin 14,270aa) | g.10:82271979G>A,c.530G>A,p.R177Q |
| TSPAN13(NM_014399,tetraspanin 13,204aa) | g.7:16815917G>T,c.145G>T,p.V49F |
| TSPAN13(NM_014399,tetraspanin 13,204aa) | g.7:16815884G>A,c.112G>A,p.G38R |
| TSPAN12(NM_012338,tetraspanin 12,305aa) | g.7:120450618C>G,c.367G>C,p.V123L |
| TSPAN12(NM_012338,tetraspanin 12,305aa) | g.7:120428799C>A,c.765G>T,p.P255P |
| TSPAN12(NM_012338,tetraspanin 12,305aa) | g.7:120428689A>G,c.875T>C,p.M292T |
| TSPAN11(NM_001080509,tetraspanin 11,253aa) | g.12:31136035G>A,c.652G>A,p.D218N |
| TSPAN11(NM_001080509,tetraspanin 11,253aa) | g.12:31135615A>G,c.605A>G,p.Y202C |
| TSPAN11(NM_001080509,tetraspanin 11,253aa) | g.12:31135579T>C,c.569T>C,p.V190A |
| TSPAN11(NM_001080509,tetraspanin 11,253aa) | g.12:31135488A>G,c.478A>G,p.S160G |
| TSPAN11(NM_001080509,tetraspanin 11,253aa) | g.12:31132532G>A,c.383G>A,p.R128Q |
| TSPAN11(NM_001080509,tetraspanin 11,253aa) | g.12:31116951C>T,c.275C>T,p.T92M |