| 基因名 | 突变 |
|---|---|
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62172604C>T,c.1225G>A,p.V409I |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62172564T>C,c.1265A>G,p.Y422C |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62172317G>A,c.1321C>T,p.R441X |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62172283G>A,c.1355C>T,p.P452L |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62172281C>T,c.1357G>A,p.A453T |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62172280G>A,c.1358C>T,p.A453V |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62172269C>A,c.1369G>T,p.V457L |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62172244C>G,c.1394G>C,p.S465T |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62172236C>T,c.1402G>A,p.E468K |
| SRMS(NM_080823,src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites,488aa) | g.20:62172208C>T,c.1430G>A,p.R477Q |
| SRM(NM_003132,spermidine synthase,302aa) | g.1:11115844C>G,c.759G>C,p.K253N |
| SRL(NM_001098814,sarcalumenin,473aa) | g.16:4254594G>A,c.103C>T,p.R35C |
| SRL(NM_001098814,sarcalumenin,473aa) | g.16:4253262G>A,c.164C>T,p.A55V |
| SRL(NM_001098814,sarcalumenin,473aa) | g.16:4253184C>T,c.242G>A,p.R81Q |
| SRL(NM_001098814,sarcalumenin,473aa) | g.16:4245607A>G,c.557T>C,p.V186A |
| SRL(NM_001098814,sarcalumenin,473aa) | g.16:4242840G>A,c.736C>T,p.R246C |
| SRL(NM_001098814,sarcalumenin,473aa) | g.16:4242609C>T,c.967G>A,p.E323K |
| SRL(NM_001098814,sarcalumenin,473aa) | g.16:4242381C>T,c.1195G>A,p.E399K |
| SRL(NM_001098814,sarcalumenin,473aa) | g.16:4242321G>C,c.1255C>G,p.Q419E |
| SRL(NM_001098814,sarcalumenin,473aa) | g.16:4242170C>T,c.1406G>A,p.R469H |
| SRGN(NM_002727,serglycin,158aa) | g.10:70863700G>A,c.301G>A,p.G101S |
| SRGN(NM_002727,serglycin,158aa) | g.10:70856963C>G,c.203C>G,p.P68R |
| SRGN(NM_002727,serglycin,158aa) | g.10:70856852G>A,c.92G>A,p.R31Q |
| SRGN(NM_002727,serglycin,158aa) | g.10:70847918T>C,c.5T>C,p.M2T |
| SRGAP3(NM_014850,SLIT-ROBO Rho GTPase activating protein 3,1099aa) | g.3:9166445G>A,c.224C>T,p.S75F |
| SRGAP3(NM_014850,SLIT-ROBO Rho GTPase activating protein 3,1099aa) | g.3:9106142G>A,c.610C>T,p.R204W |
| SRGAP3(NM_014850,SLIT-ROBO Rho GTPase activating protein 3,1099aa) | g.3:9097991C>T,c.1051G>A,p.V351I |
| SRGAP3(NM_014850,SLIT-ROBO Rho GTPase activating protein 3,1099aa) | g.3:9074342A>G,c.1531T>C,p.F511L |