| 基因名 | 突变 |
|---|---|
| TXNDC15(NM_024715,thioredoxin domain containing 15,360aa) | g.5:134223804G>C,c.523G>C,p.V175L |
| TXNDC15(NM_024715,thioredoxin domain containing 15,360aa) | g.5:134223691G>C,c.410G>C,p.G137A |
| TXNDC15(NM_024715,thioredoxin domain containing 15,360aa) | g.5:134223664A>G,c.383A>G,p.E128G |
| TXNDC15(NM_024715,thioredoxin domain containing 15,360aa) | g.5:134223657G>A,c.376G>A,p.V126I |
| TXNDC15(NM_024715,thioredoxin domain containing 15,360aa) | g.5:134223478A>G,c.197A>G,p.H66R |
| TXNDC15(NM_024715,thioredoxin domain containing 15,360aa) | g.5:134210202C>G,c.85C>G,p.P29A |
| TXNDC12(NM_015913,thioredoxin domain containing 12 (endoplasmic reticulum),172aa) | g.1:52520740G>A,c.29C>T,p.T10I |
| TXNDC12(NM_015913,thioredoxin domain containing 12 (endoplasmic reticulum),172aa) | g.1:52520722C>G,c.47G>C,p.S16T |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11836570C>T,c.17G>A,p.G6D |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11836508G>A,c.79C>T,p.P27S |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11830087C>T,c.257G>A,p.R86Q |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11829887G>A,c.457C>T,p.R153W |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11824509T>C,c.691A>G,p.N231D |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11794316T>C,c.898A>G,p.T300A |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11792171C>T,c.917G>A,p.R306K |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11792039G>A,c.1049C>T,p.A350V |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11785747G>C,c.1299C>G,p.H433Q |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11785668C>T,c.1378G>A,p.V460M |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11785455T>G,c.1591A>C,p.T531P |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11785344T>C,c.1702A>G,p.N568D |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11782223G>A,c.1979C>T,p.P660L |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11781741G>C,c.2125C>G,p.L709V |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11773662C>G,c.2266G>C,p.V756L |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11773400C>T,c.2528G>A,p.R843Q |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11773346G>A,c.2582C>T,p.A861V |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11773304C>T,c.2624G>A,p.R875H |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11773132C>G,c.2796G>C,p.Q932H |
| TXNDC11(NM_015914,thioredoxin domain containing 11,958aa) | g.16:11773089G>T,c.2839C>A,p.L947M |