| 基因名 | 突变 |
|---|---|
| SRP68(NM_014230,signal recognition particle 68kDa,627aa) | g.17:74063305C>T,c.358G>A,p.D120N |
| SRP68(NM_014230,signal recognition particle 68kDa,627aa) | g.17:74056418T>C,c.808A>G,p.T270A |
| SRP68(NM_014230,signal recognition particle 68kDa,627aa) | g.17:74042169G>A,c.1249C>T,p.R417C |
| SRP68(NM_014230,signal recognition particle 68kDa,627aa) | g.17:74041433T>A,c.1334A>T,p.E445V |
| SRP68(NM_014230,signal recognition particle 68kDa,627aa) | g.17:74036544C>T,c.1612G>A,p.A538T |
| SRP54(NM_003136,signal recognition particle 54kDa,504aa) | g.14:35477846A>T,c.374A>T,p.Y125F |
| SRP14(NM_003134,signal recognition particle 14kDa (homologous Alu RNA binding protein),136aa) | g.15:40328590C>T,c.355G>A,p.A119T |
| SRP14(NM_003134,signal recognition particle 14kDa (homologous Alu RNA binding protein),136aa) | g.15:40328575G>C,c.370C>G,p.P124A |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62178615C>T,c.202G>A,p.G68R |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62178555T>C,c.262A>G,p.I88V |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62178545C>T,c.272G>A,p.R91H |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62178513C>T,c.304G>A,p.V102M |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62178483G>C,c.334C>G,p.P112A |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62174831G>A,c.481C>T,p.R161W |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62174830C>T,c.482G>A,p.R161Q |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62173927G>A,c.653C>T,p.P218L |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62173916C>T,c.664G>A,p.V222M |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62173817C>T,c.763G>A,p.V255M |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62173672T>C,c.790A>G,p.N264D |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62173632A>G,c.830T>C,p.L277P |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62173561C>G,c.901G>C,p.V301L |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62173539C>T,c.923G>A,p.G308E |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62172875G>A,c.1045C>T,p.R349W |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62172695_62172697del,c.1132_1134del,p.378del |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62172648G>A,c.1181C>T,p.A394V |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62172639G>A,c.1190C>T,p.A397V |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62172634T>C,c.1195A>G,p.N399D |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62172627C>A,c.1202G>T,p.R401L |