| 基因名 | 突变 |
|---|---|
| SEPT1(NM_052838,septin 1,414aa) | g.16:30390417T>C,c.989A>G,p.D330G |
| SEPT1(NM_052838,septin 1,414aa) | g.16:30390369C>T,c.1037G>A,p.R346Q |
| SEPT1(NM_052838,septin 1,414aa) | g.16:30389792T>C,c.1208A>G,p.Q403R |
| SEPT1(NM_052838,septin 1,414aa) | g.16:30389757A>T,c.1243T>A,p.X415R |
| SEPT14(NM_207366,septin 14,432aa) | g.7:55929686C>T,c.4G>A,p.A2T |
| SEPT14(NM_207366,septin 14,432aa) | g.7:55914251C>G,c.134G>C,p.R45T |
| SEPT14(NM_207366,septin 14,432aa) | g.7:55912345T>C,c.242A>G,p.K81R |
| SEPT14(NM_207366,septin 14,432aa) | g.7:55902230T>C,c.608A>G,p.D203G |
| SEPT14(NM_207366,septin 14,432aa) | g.7:55873079G>T,c.991C>A,p.Q331K |
| SEPT14(NM_207366,septin 14,432aa) | g.7:55873072A>G,c.998T>C,p.I333T |
| SEPT12(NM_144605,septin 12,358aa) | g.16:4837574C>T,c.73G>A,p.E25K |
| SEPT12(NM_144605,septin 12,358aa) | g.16:4836007G>A,c.266C>T,p.T89M |
| SEPT12(NM_144605,septin 12,358aa) | g.16:4835850G>T,c.332C>A,p.T111K |
| SEPT12(NM_144605,septin 12,358aa) | g.16:4833970C>T,c.474G>A,p.V158V |
| SEPT12(NM_144605,septin 12,358aa) | g.16:4829783C>T,c.731G>A,p.R244Q |
| SEPT12(NM_144605,septin 12,358aa) | g.16:4828126G>A,c.836C>T,p.A279V |
| SEPT11(NM_018243,septin 11,429aa) | g.4:77940367G>A,c.737G>A,p.G246D |
| SEPT10(NM_144710,septin 10,454aa) | g.2:110343399C>T,c.116G>A,p.R39H |
| SEPT10(NM_144710,septin 10,454aa) | g.2:110343382C>T,c.133G>A,p.G45S |
| SEPT10(NM_144710,septin 10,454aa) | g.2:110332292C>T,c.466G>A,p.E156K |
| SEPT10(NM_144710,septin 10,454aa) | g.2:110332268G>C,c.490C>G,p.L164V |
| SEPT10(NM_144710,septin 10,454aa) | g.2:110322000C>T,c.971G>A,p.R324H |
| SEPSECS(NM_016955,Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase,501aa) | g.4:25127383C>T,c.1144G>A,p.E382K |
| SEPSECS(NM_016955,Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase,501aa) | g.4:25125783T>C,c.1276A>G,p.T426A |
| SEPSECS(NM_016955,Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase,501aa) | g.4:25125703C>G,c.1356G>C,p.K452N |
| SEPSECS(NM_016955,Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase,501aa) | g.4:25125665C>T,c.1394G>A,p.R465Q |
| SEPP1(NM_001093726,selenoprotein P, plasma, 1,411aa) | g.5:42807080G>A,c.424C>T,p.P142S |
| SEPP1(NM_001093726,selenoprotein P, plasma, 1,411aa) | g.5:42801268C>T,c.790G>A,p.A264T |