| 基因名 | 突变 |
|---|---|
| TSPAN3(NM_005724,tetraspanin 3,253aa) | g.15:77363263C>T,c.34G>A,p.V12M |
| TSPAN33(NM_178562,tetraspanin 33,283aa) | g.7:128802734G>A,c.349G>A,p.V117I |
| TSPAN32(NM_139022,tetraspanin 32,320aa) | g.11:2339137C>T,c.946C>T,p.R316W |
| TSPAN32(NM_139022,tetraspanin 32,320aa) | g.11:2338692C>T,c.838C>T,p.R280W |
| TSPAN32(NM_139022,tetraspanin 32,320aa) | g.11:2337897G>A,c.719G>A,p.R240Q |
| TSPAN32(NM_139022,tetraspanin 32,320aa) | g.11:2335749G>A,c.491G>A,p.R164H |
| TSPAN32(NM_139022,tetraspanin 32,320aa) | g.11:2335748C>T,c.490C>T,p.R164C |
| TSPAN32(NM_139022,tetraspanin 32,320aa) | g.11:2334953C>T,c.424C>T,p.R142W |
| TSPAN32(NM_139022,tetraspanin 32,320aa) | g.11:2334893G>A,c.364G>A,p.A122T |
| TSPAN32(NM_139022,tetraspanin 32,320aa) | g.11:2325427T>C,c.272T>C,p.M91T |
| TSPAN32(NM_139022,tetraspanin 32,320aa) | g.11:2325384G>A,c.229G>A,p.V77M |
| TSPAN32(NM_139022,tetraspanin 32,320aa) | g.11:2323396G>A,c.17G>A,p.R6Q |
| TSPAN31(NM_005981,tetraspanin 31,210aa) | g.12:58138971G>A,c.34G>A,p.A12T |
| TSPAN2(NM_005725,tetraspanin 2,221aa) | g.1:115604827C>T,c.199G>A,p.A67T |
| TSPAN2(NM_005725,tetraspanin 2,221aa) | g.1:115601595C>A,c.353G>T,p.R118L |
| TSPAN1(NM_005727,tetraspanin 1,241aa) | g.1:46651169G>A,c.690G>A,p.M230I |
| TSPAN1(NM_005727,tetraspanin 1,241aa) | g.1:46650758A>G,c.565A>G,p.K189E |
| TSPAN1(NM_005727,tetraspanin 1,241aa) | g.1:46650728G>A,c.535G>A,p.V179I |
| TSPAN1(NM_005727,tetraspanin 1,241aa) | g.1:46649963T>C,c.158T>C,p.F53S |
| TSPAN1(NM_005727,tetraspanin 1,241aa) | g.1:46646810A>G,c.31A>G,p.M11V |
| TSPAN1(NM_005727,tetraspanin 1,241aa) | g.1:46646780A>G,c.1A>G,p.M1V |
| TSPAN19(NM_001100917,tetraspanin 19,248aa) | g.12:85423676T>C,c.49A>G,p.I17V |
| TSPAN19(NM_001100917,tetraspanin 19,248aa) | g.12:85423550del,c.86del,p.29fs |
| TSPAN19(NM_001100917,tetraspanin 19,248aa) | g.12:85408279T>C,c.734A>G,p.H245R |
| TSPAN18(NM_130783,tetraspanin 18,248aa) | g.11:44950703A>G,c.721A>G,p.M241V |
| TSPAN18(NM_130783,tetraspanin 18,248aa) | g.11:44941468G>A,c.533G>A,p.R178Q |
| TSPAN18(NM_130783,tetraspanin 18,248aa) | g.11:44940850C>T,c.419C>T,p.S140L |
| TSPAN18(NM_130783,tetraspanin 18,248aa) | g.11:44940828G>A,c.397G>A,p.V133I |