| 基因名 | 突变 |
|---|---|
| CTC1(NM_025099,CTS telomere maintenance complex component 1,1217aa) | g.17:8136298C>T,c.1871G>A,p.R624Q |
| CTC1(NM_025099,CTS telomere maintenance complex component 1,1217aa) | g.17:8135444C>G,c.2162G>C,p.G721A |
| CTC1(NM_025099,CTS telomere maintenance complex component 1,1217aa) | g.17:8135328C>T,c.2278G>A,p.A760T |
| CTC1(NM_025099,CTS telomere maintenance complex component 1,1217aa) | g.17:8135253C>T,c.2353G>A,p.E785K |
| CTC1(NM_025099,CTS telomere maintenance complex component 1,1217aa) | g.17:8135134C>T,c.2386-1G>A,p.796Acceptor |
| CTC1(NM_025099,CTS telomere maintenance complex component 1,1217aa) | g.17:8135061T>C,c.2458A>G,p.I820V |
| CTC1(NM_025099,CTS telomere maintenance complex component 1,1217aa) | g.17:8133714del,c.2831del,p.944fs |
| CTC1(NM_025099,CTS telomere maintenance complex component 1,1217aa) | g.17:8132763T>C,c.3013A>G,p.I1005V |
| CTC1(NM_025099,CTS telomere maintenance complex component 1,1217aa) | g.17:8132702G>A,c.3074C>T,p.A1025V |
| CTBS(NM_004388,chitobiase, di-N-acetyl-,385aa) | g.1:85040098T>C,c.1A>G,p.M1V |
| CTBS(NM_004388,chitobiase, di-N-acetyl-,385aa) | g.1:85040070C>A,c.29G>T,p.R10L |
| CTBS(NM_004388,chitobiase, di-N-acetyl-,385aa) | g.1:85040007A>C,c.92T>G,p.L31R |
| CTBS(NM_004388,chitobiase, di-N-acetyl-,385aa) | g.1:85039999_85040007del,c.92_100del,p.31_34del |
| CTBS(NM_004388,chitobiase, di-N-acetyl-,385aa) | g.1:85035778A>C,c.361T>G,p.S121A |
| CTBS(NM_004388,chitobiase, di-N-acetyl-,385aa) | g.1:85035775A>C,c.364T>G,p.W122G |
| CTBS(NM_004388,chitobiase, di-N-acetyl-,385aa) | g.1:85029464C>T,c.749G>A,p.G250D |
| CTBS(NM_004388,chitobiase, di-N-acetyl-,385aa) | g.1:85029085A>G,c.812T>C,p.I271T |
| CTBS(NM_004388,chitobiase, di-N-acetyl-,385aa) | g.1:85029077C>T,c.820G>A,p.V274I |
| CTBS(NM_004388,chitobiase, di-N-acetyl-,385aa) | g.1:85029068G>A,c.829C>T,p.R277W |
| CTBS(NM_004388,chitobiase, di-N-acetyl-,385aa) | g.1:85029037C>T,c.860G>A,p.R287H |
| CTBS(NM_004388,chitobiase, di-N-acetyl-,385aa) | g.1:85028969C>A,c.928G>T,p.D310Y |
| CTBS(NM_004388,chitobiase, di-N-acetyl-,385aa) | g.1:85020803T>C,c.1037A>G,p.Y346C |
| CTBS(NM_004388,chitobiase, di-N-acetyl-,385aa) | g.1:85020795G>A,c.1045C>T,p.R349W |
| CTBS(NM_004388,chitobiase, di-N-acetyl-,385aa) | g.1:85020695A>G,c.1145T>C,p.L382P |
| CTBP2(NM_022802,C-terminal binding protein 2,985aa) | g.10:126716204G>A,c.125C>T,p.T42M |
| CTBP2(NM_022802,C-terminal binding protein 2,985aa) | g.10:126716172G>A,c.157C>T,p.P53S |
| CTBP2(NM_022802,C-terminal binding protein 2,985aa) | g.10:126715971C>T,c.358G>A,p.V120I |
| CTBP2(NM_022802,C-terminal binding protein 2,985aa) | g.10:126715925G>A,c.404C>T,p.P135L |