| 基因名 | 突变 |
|---|---|
| CTSA(NM_001127695,cathepsin A,480aa) | g.20:44526731G>A,c.1342G>A,p.A448T |
| CTSA(NM_001127695,cathepsin A,480aa) | g.20:44526704G>A,c.1315G>A,p.G439S |
| CTSA(NM_001127695,cathepsin A,480aa) | g.20:44525611G>A,c.1096G>A,p.V366I |
| CTSA(NM_001127695,cathepsin A,480aa) | g.20:44523720G>A,c.1036G>A,p.V346M |
| CTSA(NM_001127695,cathepsin A,480aa) | g.20:44523693G>C,c.1009G>C,p.A337P |
| CTSA(NM_001127695,cathepsin A,480aa) | g.20:44523664T>C,c.980T>C,p.M327T |
| CTSA(NM_001127695,cathepsin A,480aa) | g.20:44523472G>A,c.880G>A,p.D294N |
| CTSA(NM_001127695,cathepsin A,480aa) | g.20:44520240_44520242del,c.33_35del,p.11_12del |
| CTSA(NM_001127695,cathepsin A,480aa) | g.20:44520239_44520241del,c.32_34del,p.11_12del |
| CTSA(NM_001127695,cathepsin A,480aa) | g.20:44520238_44520240del,c.31_33del,p.11del |
| CTRL(NM_001907,chymotrypsin-like,264aa) | g.16:67965712G>T,c.44C>A,p.S15Y |
| CTRL(NM_001907,chymotrypsin-like,264aa) | g.16:67965047C>T,c.110G>A,p.G37E |
| CTRL(NM_001907,chymotrypsin-like,264aa) | g.16:67965002T>C,c.155A>G,p.Q52R |
| CTRL(NM_001907,chymotrypsin-like,264aa) | g.16:67964836G>A,c.223C>T,p.H75Y |
| CTRL(NM_001907,chymotrypsin-like,264aa) | g.16:67964703G>A,c.244C>T,p.R82C |
| CTRL(NM_001907,chymotrypsin-like,264aa) | g.16:67964428C>T,c.382G>A,p.A128T |
| CTRL(NM_001907,chymotrypsin-like,264aa) | g.16:67964203T>C,c.518A>G,p.H173R |
| CTRL(NM_001907,chymotrypsin-like,264aa) | g.16:67964158C>T,c.563G>A,p.R188Q |
| CTRL(NM_001907,chymotrypsin-like,264aa) | g.16:67963905C>T,c.727G>A,p.A243T |
| CTRC(NM_007272,chymotrypsin C (caldecrin),268aa) | g.1:15772212C>T,c.760C>T,p.R254W |
| CTRC(NM_007272,chymotrypsin C (caldecrin),268aa) | g.1:15772126A>C,c.674A>C,p.E225A |
| CTRC(NM_007272,chymotrypsin C (caldecrin),268aa) | g.1:15771121A>G,c.514A>G,p.K172E |
| CTRC(NM_007272,chymotrypsin C (caldecrin),268aa) | g.1:15769037G>A,c.325G>A,p.V109I |
| CTRC(NM_007272,chymotrypsin C (caldecrin),268aa) | g.1:15767036C>T,c.180C>T,p.G60G |
| CTRB2(NM_001025200,chymotrypsinogen B2,263aa) | g.16:75238184C>T,c.667G>A,p.G223R |
| CTRB2(NM_001025200,chymotrypsinogen B2,263aa) | g.16:75238126G>A,c.725C>T,p.T242M |
| CTRB2(NM_001025200,chymotrypsinogen B2,263aa) | g.16:75238103C>T,c.748G>A,p.A250T |
| CTRB1(NM_001906,chymotrypsinogen B1,263aa) | g.16:75258678G>A,c.706G>A,p.D236N |