| 基因名 | 突变 |
|---|---|
| TELO2(NM_016111,telomere maintenance 2,837aa) | g.16:1550149G>A,c.986G>A,p.R329H |
| TELO2(NM_016111,telomere maintenance 2,837aa) | g.16:1550145C>T,c.982C>T,p.R328W |
| TELO2(NM_016111,telomere maintenance 2,837aa) | g.16:1550113G>A,c.950G>A,p.S317N |
| TELO2(NM_016111,telomere maintenance 2,837aa) | g.16:1547104G>C,c.681G>C,p.Q227H |
| TELO2(NM_016111,telomere maintenance 2,837aa) | g.16:1545613A>G,c.602A>G,p.D201G |
| TELO2(NM_016111,telomere maintenance 2,837aa) | g.16:1545589T>C,c.578T>C,p.V193A |
| TELO2(NM_016111,telomere maintenance 2,837aa) | g.16:1545448A>G,c.437A>G,p.Q146R |
| TELO2(NM_016111,telomere maintenance 2,837aa) | g.16:1544520C>A,c.238C>A,p.H80N |
| TELO2(NM_016111,telomere maintenance 2,837aa) | g.16:1544302A>G,c.20A>G,p.E7G |
| TELO2(NM_016111,telomere maintenance 2,837aa) | g.16:1544301G>C,c.19G>C,p.E7Q |
| TELO2(NM_016111,telomere maintenance 2,837aa) | g.16:1544301_1544302GA>CG,c.19_20GA>CG,p.R7P |
| TEKT5(NM_144674,tektin 5,485aa) | g.16:10788700T>C,c.31A>G,p.S11G |
| TEKT5(NM_144674,tektin 5,485aa) | g.16:10788652C>T,c.79G>A,p.V27I |
| TEKT5(NM_144674,tektin 5,485aa) | g.16:10788645G>A,c.86C>T,p.A29V |
| TEKT5(NM_144674,tektin 5,485aa) | g.16:10788624T>C,c.107A>G,p.Y36C |
| TEKT5(NM_144674,tektin 5,485aa) | g.16:10788556C>T,c.175G>A,p.A59T |
| TEKT5(NM_144674,tektin 5,485aa) | g.16:10788550C>T,c.181G>A,p.V61I |
| TEKT5(NM_144674,tektin 5,485aa) | g.16:10788537G>A,c.194C>T,p.P65L |
| TEKT5(NM_144674,tektin 5,485aa) | g.16:10788469G>A,c.262C>T,p.R88C |
| TEKT5(NM_144674,tektin 5,485aa) | g.16:10788423C>T,c.308G>A,p.R103H |
| TEKT5(NM_144674,tektin 5,485aa) | g.16:10788405C>T,c.326G>A,p.R109Q |
| TEKT5(NM_144674,tektin 5,485aa) | g.16:10788387A>G,c.344T>C,p.L115P |
| TEKT5(NM_144674,tektin 5,485aa) | g.16:10788384G>A,c.347C>T,p.T116M |
| TEKT5(NM_144674,tektin 5,485aa) | g.16:10788321G>A,c.410C>T,p.T137I |
| TEKT5(NM_144674,tektin 5,485aa) | g.16:10788294G>A,c.437C>T,p.S146L |
| TEKT5(NM_144674,tektin 5,485aa) | g.16:10788261T>C,c.470A>G,p.Y157C |
| TEKT5(NM_144674,tektin 5,485aa) | g.16:10788219G>A,c.512C>T,p.T171M |
| TEKT5(NM_144674,tektin 5,485aa) | g.16:10783860T>C,c.587A>G,p.H196R |