| 基因名 | 突变 |
|---|---|
| CTSL(NM_001912,cathepsin L,333aa) | g.9:90342523A>C,c.5A>C,p.N2T |
| CTSK(NM_000396,cathepsin K,329aa) | g.1:150779274C>T,c.8G>A,p.G3E |
| CTSK(NM_000396,cathepsin K,329aa) | g.1:150772171C>T,c.633G>A,p.M211I |
| CTSK(NM_000396,cathepsin K,329aa) | g.1:150771722C>T,c.812G>A,p.S271N |
| CTSK(NM_000396,cathepsin K,329aa) | g.1:150769339A>G,c.926T>C,p.L309P |
| CTSH(NM_004390,cathepsin H,335aa) | g.15:79237293C>T,c.31G>A,p.G11R |
| CTSH(NM_004390,cathepsin H,335aa) | g.15:79237257C>T,c.67G>A,p.A23T |
| CTSH(NM_004390,cathepsin H,335aa) | g.15:79237247C>G,c.77G>C,p.C26S |
| CTSH(NM_004390,cathepsin H,335aa) | g.15:79224743C>T,c.463G>A,p.A155T |
| CTSH(NM_004390,cathepsin H,335aa) | g.15:79223811T>C,c.530A>G,p.N177S |
| CTSH(NM_004390,cathepsin H,335aa) | g.15:79220054C>T,c.699+1G>A,p.233Donor |
| CTSH(NM_004390,cathepsin H,335aa) | g.15:79217775T>C,c.707A>G,p.E236G |
| CTSG(NM_001911,cathepsin G,255aa) | g.14:25044616C>T,c.58G>A,p.E20K |
| CTSG(NM_001911,cathepsin G,255aa) | g.14:25043671T>C,c.374A>G,p.N125S |
| CTSF(NM_003793,cathepsin F,484aa) | g.11:66333807G>A,c.676C>T,p.R226C |
| CTSF(NM_003793,cathepsin F,484aa) | g.11:66333800G>C,c.683C>G,p.T228R |
| CTSF(NM_003793,cathepsin F,484aa) | g.11:66331605G>A,c.1334C>T,p.P445L |
| CTSE(NM_001910,cathepsin E,396aa) | g.1:206331027G>A,c.1033G>A,p.V345M |
| CTSE(NM_001910,cathepsin E,396aa) | g.1:206329053C>A,c.1019C>A,p.T340N |
| CTSE(NM_001910,cathepsin E,396aa) | g.1:206328835T>C,c.902T>C,p.I301T |
| CTSE(NM_001910,cathepsin E,396aa) | g.1:206325413C>T,c.638C>T,p.P213L |
| CTSE(NM_001910,cathepsin E,396aa) | g.1:206325277A>G,c.502A>G,p.S168G |
| CTSE(NM_001910,cathepsin E,396aa) | g.1:206325259G>A,c.484G>A,p.G162S |
| CTSE(NM_001910,cathepsin E,396aa) | g.1:206325253G>A,c.478G>A,p.V160M |
| CTSE(NM_001910,cathepsin E,396aa) | g.1:206320308G>A,c.451G>A,p.D151N |
| CTSE(NM_001910,cathepsin E,396aa) | g.1:206320300T>C,c.443T>C,p.I148T |
| CTSE(NM_001910,cathepsin E,396aa) | g.1:206320204C>T,c.347C>T,p.T116M |
| CTSE(NM_001910,cathepsin E,396aa) | g.1:206319119A>G,c.244A>G,p.I82V |