| 基因名 | 突变 |
|---|---|
| SAMSN1(NM_001256370,SAM domain, SH3 domain and nuclear localization signals 1,441aa) | g.21:15954593G>A,c.125C>T,p.P42L |
| SAMSN1(NM_001256370,SAM domain, SH3 domain and nuclear localization signals 1,441aa) | g.21:15954528G>A,c.190C>T,p.H64Y |
| SAMSN1(NM_001256370,SAM domain, SH3 domain and nuclear localization signals 1,441aa) | g.21:15954504T>C,c.214A>G,p.T72A |
| SAMSN1(NM_001256370,SAM domain, SH3 domain and nuclear localization signals 1,441aa) | g.21:15893508C>T,c.296G>A,p.R99Q |
| SAMSN1(NM_001256370,SAM domain, SH3 domain and nuclear localization signals 1,441aa) | g.21:15889304C>G,c.392G>C,p.G131A |
| SAMSN1(NM_001256370,SAM domain, SH3 domain and nuclear localization signals 1,441aa) | g.21:15882747G>C,c.649C>G,p.R217G |
| SAMSN1(NM_001256370,SAM domain, SH3 domain and nuclear localization signals 1,441aa) | g.21:15882715del,c.681del,p.227fs |
| SAMSN1(NM_001256370,SAM domain, SH3 domain and nuclear localization signals 1,441aa) | g.21:15873026T>C,c.796A>G,p.T266A |
| SAMM50(NM_015380,SAMM50 sorting and assembly machinery component,469aa) | g.22:44386189C>T,c.1267C>T,p.R423C |
| SAMM50(NM_015380,SAMM50 sorting and assembly machinery component,469aa) | g.22:44379838A>G,c.1033A>G,p.I345V |
| SAMM50(NM_015380,SAMM50 sorting and assembly machinery component,469aa) | g.22:44372652G>A,c.800G>A,p.R267Q |
| SAMM50(NM_015380,SAMM50 sorting and assembly machinery component,469aa) | g.22:44369168C>T,c.613C>T,p.R205W |
| SAMM50(NM_015380,SAMM50 sorting and assembly machinery component,469aa) | g.22:44368122A>G,c.329A>G,p.D110G |
| SAMM50(NM_015380,SAMM50 sorting and assembly machinery component,469aa) | g.22:44360335G>A,c.136G>A,p.V46I |
| SAMHD1(NM_015474,SAM domain and HD domain 1,626aa) | g.20:35569456C>T,c.334G>A,p.V112I |
| SAMHD1(NM_015474,SAM domain and HD domain 1,626aa) | g.20:35532618C>T,c.1445G>A,p.S482N |
| SAMD9(NM_017654,sterile alpha motif domain containing 9,1589aa) | g.7:92735314T>C,c.97A>G,p.R33G |
| SAMD9(NM_017654,sterile alpha motif domain containing 9,1589aa) | g.7:92735188G>A,c.223C>T,p.R75W |
| SAMD9(NM_017654,sterile alpha motif domain containing 9,1589aa) | g.7:92735187C>T,c.224G>A,p.R75Q |
| SAMD9(NM_017654,sterile alpha motif domain containing 9,1589aa) | g.7:92735154G>A,c.257C>T,p.S86F |
| SAMD9(NM_017654,sterile alpha motif domain containing 9,1589aa) | g.7:92735094C>T,c.317G>A,p.R106H |
| SAMD9(NM_017654,sterile alpha motif domain containing 9,1589aa) | g.7:92734983A>G,c.428T>C,p.I143T |
| SAMD9(NM_017654,sterile alpha motif domain containing 9,1589aa) | g.7:92734747A>G,c.664T>C,p.F222L |
| SAMD9(NM_017654,sterile alpha motif domain containing 9,1589aa) | g.7:92734722C>T,c.689G>A,p.R230H |
| SAMD9(NM_017654,sterile alpha motif domain containing 9,1589aa) | g.7:92734563C>T,c.848G>A,p.C283Y |
| SAMD9(NM_017654,sterile alpha motif domain containing 9,1589aa) | g.7:92734353G>A,c.1058C>T,p.T353M |
| SAMD9(NM_017654,sterile alpha motif domain containing 9,1589aa) | g.7:92734285C>T,c.1126G>A,p.A376T |
| SAMD9(NM_017654,sterile alpha motif domain containing 9,1589aa) | g.7:92734065T>C,c.1346A>G,p.N449S |