| 基因名 | 突变 |
|---|---|
| CTRB1(NM_001906,chymotrypsinogen B1,263aa) | g.16:75252957G>C,c.52G>C,p.G18R |
| CTR9(NM_014633,CTR9, Paf1/RNA polymerase II complex component,1173aa) | g.11:10800579A>G,c.3449A>G,p.E1150G |
| CTR9(NM_014633,CTR9, Paf1/RNA polymerase II complex component,1173aa) | g.11:10800438A>G,c.3308A>G,p.D1103G |
| CTR9(NM_014633,CTR9, Paf1/RNA polymerase II complex component,1173aa) | g.11:10800422G>A,c.3292G>A,p.G1098S |
| CTR9(NM_014633,CTR9, Paf1/RNA polymerase II complex component,1173aa) | g.11:10800335G>A,c.3205G>A,p.E1069K |
| CTR9(NM_014633,CTR9, Paf1/RNA polymerase II complex component,1173aa) | g.11:10800284T>C,c.3154T>C,p.C1052R |
| CTR9(NM_014633,CTR9, Paf1/RNA polymerase II complex component,1173aa) | g.11:10796822G>A,c.2954G>A,p.R985H |
| CTR9(NM_014633,CTR9, Paf1/RNA polymerase II complex component,1173aa) | g.11:10796810C>G,c.2942C>G,p.P981R |
| CTR9(NM_014633,CTR9, Paf1/RNA polymerase II complex component,1173aa) | g.11:10791773G>A,c.2126G>A,p.R709Q |
| CTPS2(NM_001144002,CTP synthase 2,586aa) | g.X:16717075C>T,c.308G>A,p.R103H |
| CTPS2(NM_001144002,CTP synthase 2,586aa) | g.X:16711343C>T,c.560G>A,p.S187N |
| CTPS1(NM_001905,CTP synthase 1,591aa) | g.1:41474354T>C,c.1417T>C,p.Y473H |
| CTPS1(NM_001905,CTP synthase 1,591aa) | g.1:41463092C>G,c.899C>G,p.S300C |
| CTPS1(NM_001905,CTP synthase 1,591aa) | g.1:41463073C>T,c.880C>T,p.R294C |
| CTPS1(NM_001905,CTP synthase 1,591aa) | g.1:41453092C>T,c.386C>T,p.A129V |
| CTNS(NM_004937,cystinosin, lysosomal cystine transporter,367aa) | g.17:3563269G>A,c.970G>A,p.D324N |
| CTNS(NM_004937,cystinosin, lysosomal cystine transporter,367aa) | g.17:3561396C>T,c.779C>T,p.T260I |
| CTNS(NM_004937,cystinosin, lysosomal cystine transporter,367aa) | g.17:3561312G>A,c.695G>A,p.R232H |
| CTNS(NM_004937,cystinosin, lysosomal cystine transporter,367aa) | g.17:3561302G>A,c.685G>A,p.G229S |
| CTNS(NM_004937,cystinosin, lysosomal cystine transporter,367aa) | g.17:3559997G>A,c.589G>A,p.G197R |
| CTNS(NM_004937,cystinosin, lysosomal cystine transporter,367aa) | g.17:3558629G>A,c.444G>A,p.M148I |
| CTNS(NM_004937,cystinosin, lysosomal cystine transporter,367aa) | g.17:3558553T>G,c.368T>G,p.I123S |
| CTNS(NM_004937,cystinosin, lysosomal cystine transporter,367aa) | g.17:3558549G>A,c.364G>A,p.A122T |
| CTNS(NM_004937,cystinosin, lysosomal cystine transporter,367aa) | g.17:3558541G>A,c.356G>A,p.R119H |
| CTNS(NM_004937,cystinosin, lysosomal cystine transporter,367aa) | g.17:3550792C>T,c.116C>T,p.S39L |
| CTNND2(NM_001332,catenin (cadherin-associated protein), delta 2,1225aa) | g.5:11397225G>C,c.530C>G,p.T177S |
| CTNND2(NM_001332,catenin (cadherin-associated protein), delta 2,1225aa) | g.5:11397189G>A,c.566C>T,p.P189L |
| CTNND2(NM_001332,catenin (cadherin-associated protein), delta 2,1225aa) | g.5:11082852G>A,c.2744C>T,p.A915V |