| 基因名 | 突变 |
|---|---|
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149475056G>A,c.757G>A,p.E253K |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149475053C>T,c.754C>T,p.P252S |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149474932A>T,c.731A>T,p.H244L |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149474827G>A,c.626G>A,p.R209H |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149474797C>T,c.596C>T,p.S199L |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149474769C>T,c.568C>T,p.R190C |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149474393A>G,c.437A>G,p.Q146R |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149474062T>C,c.272T>C,p.V91A |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149473614A>G,c.230A>G,p.Y77C |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149473593C>T,c.209C>T,p.A70V |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149473584G>A,c.200G>A,p.R67Q |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149473580A>G,c.196A>G,p.T66A |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149473472G>A,c.88G>A,p.E30K |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149473463C>T,c.79C>T,p.R27C |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149473146C>T,c.16C>T,p.L6F |
| SSPN(NM_005086,sarcospan,243aa) | g.12:26383959G>A,c.682G>A,p.V228I |
| SSPN(NM_005086,sarcospan,243aa) | g.12:26383834G>A,c.557G>A,p.S186N |
| SSPN(NM_005086,sarcospan,243aa) | g.12:26383755G>A,c.478G>A,p.D160N |
| SSPN(NM_005086,sarcospan,243aa) | g.12:26383695G>A,c.418G>A,p.V140M |
| SSPN(NM_005086,sarcospan,243aa) | g.12:26383680G>T,c.403G>T,p.V135F |
| SSPN(NM_005086,sarcospan,243aa) | g.12:26383678C>T,c.401C>T,p.T134M |
| SSPN(NM_005086,sarcospan,243aa) | g.12:26377285A>C,c.339A>C,p.E113D |
| SSMEM1(NM_145268,serine-rich single-pass membrane protein 1,244aa) | g.7:129856158G>T,c.583G>T,p.E195X |
| SSMEM1(NM_145268,serine-rich single-pass membrane protein 1,244aa) | g.7:129855957C>T,c.382C>T,p.R128X |
| SSMEM1(NM_145268,serine-rich single-pass membrane protein 1,244aa) | g.7:129855837C>T,c.262C>T,p.R88W |
| SSMEM1(NM_145268,serine-rich single-pass membrane protein 1,244aa) | g.7:129847791C>T,c.41C>T,p.P14L |
| SSH3(NM_017857,slingshot protein phosphatase 3,659aa) | g.11:67079303G>A,c.1925G>A,p.R642Q |
| SSH3(NM_017857,slingshot protein phosphatase 3,659aa) | g.11:67079177G>A,c.1799G>A,p.R600H |