| 基因名 | 突变 |
|---|---|
| TEKT3(NM_031898,tektin 3,490aa) | g.17:15217480C>T,c.802G>A,p.D268N |
| TEKT3(NM_031898,tektin 3,490aa) | g.17:15217437C>G,c.845G>C,p.G282A |
| TEKT3(NM_031898,tektin 3,490aa) | g.17:15215790A>G,c.887T>C,p.V296A |
| TEKT3(NM_031898,tektin 3,490aa) | g.17:15207285G>T,c.1441C>A,p.P481T |
| TEKT2(NM_014466,tektin 2 (testicular),430aa) | g.1:36553686A>G,c.1192A>G,p.T398A |
| TEKT2(NM_014466,tektin 2 (testicular),430aa) | g.1:36553338G>A,c.1009G>A,p.G337S |
| TEKT2(NM_014466,tektin 2 (testicular),430aa) | g.1:36552858G>T,c.801G>T,p.K267N |
| TEKT2(NM_014466,tektin 2 (testicular),430aa) | g.1:36552585C>T,c.686C>T,p.A229V |
| TEKT2(NM_014466,tektin 2 (testicular),430aa) | g.1:36552582G>A,c.683G>A,p.R228Q |
| TEKT2(NM_014466,tektin 2 (testicular),430aa) | g.1:36552581C>T,c.682C>T,p.R228X |
| TEKT2(NM_014466,tektin 2 (testicular),430aa) | g.1:36552447G>A,c.631G>A,p.G211S |
| TEKT2(NM_014466,tektin 2 (testicular),430aa) | g.1:36552436G>A,c.620G>A,p.R207H |
| TEKT2(NM_014466,tektin 2 (testicular),430aa) | g.1:36551587G>A,c.433G>A,p.E145K |
| TEKT2(NM_014466,tektin 2 (testicular),430aa) | g.1:36551531T>C,c.377T>C,p.I126T |
| TEKT2(NM_014466,tektin 2 (testicular),430aa) | g.1:36551512C>T,c.358C>T,p.R120W |
| TEKT2(NM_014466,tektin 2 (testicular),430aa) | g.1:36551460C>G,c.306C>G,p.N102K |
| TEKT2(NM_014466,tektin 2 (testicular),430aa) | g.1:36550658C>T,c.136C>T,p.R46C |
| TEKT2(NM_014466,tektin 2 (testicular),430aa) | g.1:36550608A>G,c.86A>G,p.Q29R |
| TEKT1(NM_053285,tektin 1,418aa) | g.17:6722546G>A,c.322C>T,p.P108S |
| TEKT1(NM_053285,tektin 1,418aa) | g.17:6719274G>A,c.364C>T,p.R122C |
| TEKT1(NM_053285,tektin 1,418aa) | g.17:6719202T>C,c.436A>G,p.I146V |
| TEKT1(NM_053285,tektin 1,418aa) | g.17:6719183C>T,c.455G>A,p.R152H |
| TEKT1(NM_053285,tektin 1,418aa) | g.17:6718542G>A,c.569C>T,p.S190L |
| TEKT1(NM_053285,tektin 1,418aa) | g.17:6716368C>T,c.634G>A,p.V212M |
| TEKT1(NM_053285,tektin 1,418aa) | g.17:6716307C>T,c.695G>A,p.R232Q |
| TEKT1(NM_053285,tektin 1,418aa) | g.17:6716256G>C,c.746C>G,p.T249R |
| TEKT1(NM_053285,tektin 1,418aa) | g.17:6716242G>A,c.760C>T,p.R254C |
| TEKT1(NM_053285,tektin 1,418aa) | g.17:6716241C>T,c.761G>A,p.R254H |