| 基因名 | 突变 |
|---|---|
| TPX2(NM_012112,TPX2, microtubule-associated,747aa) | g.20:30359457C>T,c.580C>T,p.H194Y |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10970008C>T,c.119+1G>A,p.40Donor |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10969129C>T,c.120-1G>A,p.40Acceptor |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10959771A>T,c.203T>A,p.V68D |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10951378C>T,c.334G>A,p.D112N |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10943003C>T,c.584G>A,p.R195Q |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10942995G>A,c.592C>T,p.R198X |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10942925_10942927del,c.660_662del,p.220_221del |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10942923G>A,c.664C>T,p.R222W |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10942756G>A,c.685C>T,p.R229X |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10941966A>G,c.737T>C,p.I246T |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10921939C>T,c.1084G>A,p.A362T |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10920098T>C,c.1156A>G,p.K386E |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10916369C>T,c.1276+1G>A,p.426Donor |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10910362T>C,c.1394A>G,p.D465G |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10910347A>G,c.1409T>C,p.L470P |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10910311T>G,c.1445A>C,p.Y482S |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10907041C>A,c.1521-1G>T,p.507Acceptor |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10906915C>T,c.1646G>A,p.G549E |
| TPTE(NM_199261,transmembrane phosphatase with tensin homology,551aa) | g.21:10906910C>T,c.1651G>A,p.D551N |
| TPTE2(NM_199254,transmembrane phosphoinositide 3-phosphatase and tensin homolog 2,522aa) | g.13:20067011A>C,c.98T>G,p.L33R |
| TPTE2(NM_199254,transmembrane phosphoinositide 3-phosphatase and tensin homolog 2,522aa) | g.13:20056658A>G,c.149T>C,p.V50A |
| TPTE2(NM_199254,transmembrane phosphoinositide 3-phosphatase and tensin homolog 2,522aa) | g.13:20039703A>G,c.514T>C,p.W172R |
| TPTE2(NM_199254,transmembrane phosphoinositide 3-phosphatase and tensin homolog 2,522aa) | g.13:20038622G>A,c.715C>T,p.Q239X |
| TPTE2(NM_199254,transmembrane phosphoinositide 3-phosphatase and tensin homolog 2,522aa) | g.13:20024239G>A,c.950C>T,p.A317V |
| TPTE2(NM_199254,transmembrane phosphoinositide 3-phosphatase and tensin homolog 2,522aa) | g.13:20006685G>A,c.1150C>T,p.H384Y |
| TPTE2(NM_199254,transmembrane phosphoinositide 3-phosphatase and tensin homolog 2,522aa) | g.13:20006655G>A,c.1180C>T,p.R394W |
| TPTE2(NM_199254,transmembrane phosphoinositide 3-phosphatase and tensin homolog 2,522aa) | g.13:20000630T>C,c.1330A>G,p.I444V |