| 基因名 | 突变 |
|---|---|
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203192339G>A,c.529C>T,p.R177C |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203191357C>A,c.702G>T,p.E234D |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203188943G>C,c.764C>G,p.T255S |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203188940G>A,c.767C>T,p.P256L |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203188393C>T,c.980G>A,p.R327Q |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203186963C>T,c.1060G>A,p.G354R |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203186950C>T,c.1073G>A,p.W358X |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203186950_203186951insAGACCATGGCCCCGCCCAGTCCCT,c.1072_1073insAGGGACTGGGCGGGGCCATGGTCT,p.358ins8aa |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203186947G>C,c.1076C>G,p.A359G |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203186865_203186868del,c.1155_1156del,p.385fs |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203186153C>T,c.1265G>A,p.G422D |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203186123C>T,c.1295G>A,p.R432Q |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203186093G>C,c.1325C>G,p.A442G |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203186093G>A,c.1325C>T,p.A442V |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203186067G>A,c.1351C>T,p.P451S |
| CHID1(NM_001142675,chitinase domain containing 1,393aa) | g.11:904812C>T,c.5G>A,p.R2Q |
| CHID1(NM_001142675,chitinase domain containing 1,393aa) | g.11:903077C>A,c.146G>T,p.G49V |
| CHID1(NM_001142675,chitinase domain containing 1,393aa) | g.11:902245C>T,c.347G>A,p.R116H |
| CHID1(NM_001142675,chitinase domain containing 1,393aa) | g.11:900078C>T,c.472G>A,p.D158N |
| CHID1(NM_001142675,chitinase domain containing 1,393aa) | g.11:870467C>T,c.992G>A,p.R331Q |
| CHID1(NM_001142675,chitinase domain containing 1,393aa) | g.11:870446G>A,c.1013C>T,p.A338V |
| CHIC2(NM_012110,cysteine-rich hydrophobic domain 2,165aa) | g.4:54930367C>G,c.101G>C,p.G34A |
| CHIA(NM_201653,chitinase, acidic,476aa) | g.1:111863044G>A,c.1387G>A,p.G463R |
| CHIA(NM_201653,chitinase, acidic,476aa) | g.1:111863034C>G,c.1377C>G,p.N459K |
| CHIA(NM_201653,chitinase, acidic,476aa) | g.1:111862972C>A,c.1315C>A,p.P439T |
| CHIA(NM_201653,chitinase, acidic,476aa) | g.1:111862952T>G,c.1295T>G,p.V432G |
| CHIA(NM_201653,chitinase, acidic,476aa) | g.1:111862042T>C,c.1129T>C,p.F377L |
| CHIA(NM_201653,chitinase, acidic,476aa) | g.1:111861995C>T,c.1082C>T,p.A361V |