| 基因名 | 突变 |
|---|---|
| SARM1(NM_015077,sterile alpha and TIR motif containing 1,723aa) | g.17:26699367_26699368insC,c.313_314insC,p.105fs |
| SARM1(NM_015077,sterile alpha and TIR motif containing 1,723aa) | g.17:26699286G>T,c.232G>T,p.A78S |
| SARM1(NM_015077,sterile alpha and TIR motif containing 1,723aa) | g.17:26699254G>T,c.200G>T,p.R67L |
| SARM1(NM_015077,sterile alpha and TIR motif containing 1,723aa) | g.17:26699196C>G,c.143C>G,p.P48R |
| SARM1(NM_015077,sterile alpha and TIR motif containing 1,723aa) | g.17:26699121G>C,c.68G>C,p.R23P |
| SARDH(NM_007101,sarcosine dehydrogenase,918aa) | g.9:136599232C>A,c.64G>T,p.G22C |
| SARDH(NM_007101,sarcosine dehydrogenase,918aa) | g.9:136599138G>A,c.158C>T,p.S53L |
| SARDH(NM_007101,sarcosine dehydrogenase,918aa) | g.9:136599115G>A,c.181C>T,p.R61W |
| SARDH(NM_007101,sarcosine dehydrogenase,918aa) | g.9:136599114C>T,c.182G>A,p.R61Q |
| SARDH(NM_007101,sarcosine dehydrogenase,918aa) | g.9:136597592T>C,c.463A>G,p.I155V |
| SARDH(NM_007101,sarcosine dehydrogenase,918aa) | g.9:136597550T>C,c.505A>G,p.M169V |
| SARDH(NM_007101,sarcosine dehydrogenase,918aa) | g.9:136596551G>A,c.566C>T,p.T189I |
| SARDH(NM_007101,sarcosine dehydrogenase,918aa) | g.9:136582482C>A,c.1116G>T,p.E372D |
| SARDH(NM_007101,sarcosine dehydrogenase,918aa) | g.9:136577775G>A,c.1294C>T,p.R432C |
| SARDH(NM_007101,sarcosine dehydrogenase,918aa) | g.9:136573437C>T,c.1442G>A,p.R481H |
| SARDH(NM_007101,sarcosine dehydrogenase,918aa) | g.9:136573419G>C,c.1460C>G,p.P487R |
| SARDH(NM_007101,sarcosine dehydrogenase,918aa) | g.9:136559460C>T,c.1841G>A,p.R614H |
| SARDH(NM_007101,sarcosine dehydrogenase,918aa) | g.9:136555629T>C,c.1942A>G,p.M648V |
| SARDH(NM_007101,sarcosine dehydrogenase,918aa) | g.9:136550326C>T,c.2152G>A,p.A718T |
| SARDH(NM_007101,sarcosine dehydrogenase,918aa) | g.9:136535856G>A,c.2345C>T,p.A782V |
| SARDH(NM_007101,sarcosine dehydrogenase,918aa) | g.9:136535734G>A,c.2467C>T,p.R823W |
| SARDH(NM_007101,sarcosine dehydrogenase,918aa) | g.9:136531904C>T,c.2584G>A,p.D862N |
| SAR1B(NM_001033503,SAR1 homolog B (S. cerevisiae),198aa) | g.5:133956694G>A,c.107C>T,p.A36V |
| SAR1B(NM_001033503,SAR1 homolog B (S. cerevisiae),198aa) | g.5:133942665C>T,c.572G>A,p.R191H |
| SAR1A(NM_001142648,SAR1 homolog A (S. cerevisiae),198aa) | g.10:71921643T>C,c.29A>G,p.N10S |
| SAR1A(NM_001142648,SAR1 homolog A (S. cerevisiae),198aa) | g.10:71920808T>C,c.196A>G,p.I66V |
| SAPCD2(NM_178448,suppressor APC domain containing 2,394aa) | g.9:139964450C>T,c.463G>A,p.A155T |
| SAPCD2(NM_178448,suppressor APC domain containing 2,394aa) | g.9:139964447G>C,c.466C>G,p.R156G |