| 基因名 | 突变 |
|---|---|
| CTSD(NM_001909,cathepsin D,412aa) | g.11:1782613C>T,c.154G>A,p.V52I |
| CTSD(NM_001909,cathepsin D,412aa) | g.11:1782594G>A,c.173C>T,p.A58V |
| CTSD(NM_001909,cathepsin D,412aa) | g.11:1780315_1780316insC,c.354_355insG,p.118fs |
| CTSD(NM_001909,cathepsin D,412aa) | g.11:1775367C>T,c.829G>A,p.V277M |
| CTSD(NM_001909,cathepsin D,412aa) | g.11:1775352C>T,c.844G>A,p.G282R |
| CTSD(NM_001909,cathepsin D,412aa) | g.11:1775270C>T,c.926G>A,p.R309H |
| CTSD(NM_001909,cathepsin D,412aa) | g.11:1775240G>A,c.956C>T,p.P319L |
| CTSD(NM_001909,cathepsin D,412aa) | g.11:1775095C>T,c.1009G>A,p.A337T |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11710912G>A,c.52C>T,p.R18W |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11710888G>C,c.76C>G,p.L26V |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11710884G>A,c.80C>T,p.S27L |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11710866T>C,c.98A>G,p.Y33C |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11710185T>C,c.146A>G,p.N49S |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11710174T>C,c.157A>G,p.S53G |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11710140C>G,c.191G>C,p.G64A |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11708479T>C,c.223A>G,p.T75A |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11708430G>A,c.272C>T,p.P91L |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11705579C>T,c.529G>A,p.V177I |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11704650C>T,c.704G>A,p.S235N |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11704645T>C,c.709A>G,p.K237E |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11704593G>C,c.761C>G,p.S254C |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11704584G>A,c.770C>T,p.S257L |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11704566T>G,c.788A>C,p.K263T |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11703272T>A,c.820A>T,p.M274L |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11702705C>T,c.949G>A,p.D317N |
| CTSB(NM_147780,cathepsin B,339aa) | g.8:11702653T>G,c.1001A>C,p.Q334P |
| CTSA(NM_001127695,cathepsin A,480aa) | g.20:44527030G>A,c.1384G>A,p.D462N |
| CTSA(NM_001127695,cathepsin A,480aa) | g.20:44526732C>T,c.1343C>T,p.A448V |