| 基因名 | 突变 |
|---|---|
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537790G>A,c.466G>A,p.V156M |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537787C>G,c.463C>G,p.L155V |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537770G>A,c.446G>A,p.R149H |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537673A>G,c.349A>G,p.N117D |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537649A>G,c.325A>G,p.M109V |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537644G>A,c.320G>A,p.R107H |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537622A>G,c.298A>G,p.S100G |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537619C>A,c.295C>A,p.H99N |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537605G>A,c.281G>A,p.R94Q |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537593C>G,c.269C>G,p.T90R |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537572C>T,c.248C>T,p.T83M |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537568C>T,c.244C>T,p.R82C |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537568C>G,c.244C>G,p.R82G |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537544A>G,c.220A>G,p.T74A |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537499C>T,c.175C>T,p.R59C |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537386C>T,c.62C>T,p.T21M |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537380G>A,c.56G>A,p.R19H |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537379C>A,c.55C>A,p.R19S |
| TEKT4(NM_144705,tektin 4,435aa) | g.2:95537329C>T,c.5C>T,p.A2V |
| TEKT3(NM_031898,tektin 3,490aa) | g.17:15234899C>T,c.4G>A,p.E2K |
| TEKT3(NM_031898,tektin 3,490aa) | g.17:15234895C>T,c.8G>A,p.R3H |
| TEKT3(NM_031898,tektin 3,490aa) | g.17:15234797G>A,c.106C>T,p.R36C |
| TEKT3(NM_031898,tektin 3,490aa) | g.17:15234565G>T,c.338C>A,p.S113Y |
| TEKT3(NM_031898,tektin 3,490aa) | g.17:15234563G>A,c.340C>T,p.R114X |
| TEKT3(NM_031898,tektin 3,490aa) | g.17:15234356G>A,c.547C>T,p.R183W |
| TEKT3(NM_031898,tektin 3,490aa) | g.17:15234355C>T,c.548G>A,p.R183Q |
| TEKT3(NM_031898,tektin 3,490aa) | g.17:15231358C>T,c.614G>A,p.R205K |
| TEKT3(NM_031898,tektin 3,490aa) | g.17:15222393C>T,c.734+1G>A,p.245Donor |