| 基因名 | 突变 |
|---|---|
| SCAND3(NM_052923,SCAN domain containing 3,1325aa) | g.6:28543044G>A,c.1438C>T,p.R480X |
| SCAND3(NM_052923,SCAN domain containing 3,1325aa) | g.6:28542985_28542986insA,c.1496_1497insT,p.499fs |
| SCAND3(NM_052923,SCAN domain containing 3,1325aa) | g.6:28541412C>T,c.2254G>A,p.G752S |
| SCAND3(NM_052923,SCAN domain containing 3,1325aa) | g.6:28541394G>A,c.2272C>T,p.Q758X |
| SCAND3(NM_052923,SCAN domain containing 3,1325aa) | g.6:28540635T>C,c.3031A>G,p.I1011V |
| SCAND3(NM_052923,SCAN domain containing 3,1325aa) | g.6:28540443G>A,c.3223C>T,p.R1075X |
| SCAND3(NM_052923,SCAN domain containing 3,1325aa) | g.6:28539898G>C,c.3768C>G,p.D1256E |
| SCAMP5(NM_001178111,secretory carrier membrane protein 5,235aa) | g.15:75310865G>A,c.502G>A,p.A168T |
| SCAMP5(NM_001178111,secretory carrier membrane protein 5,235aa) | g.15:75308954G>A,c.157G>A,p.V53M |
| SCAMP4(NM_079834,secretory carrier membrane protein 4,229aa) | g.19:1924189C>T,c.596C>T,p.P199L |
| SCAMP4(NM_079834,secretory carrier membrane protein 4,229aa) | g.19:1924180G>A,c.587G>A,p.R196Q |
| SCAMP4(NM_079834,secretory carrier membrane protein 4,229aa) | g.19:1924168C>T,c.575C>T,p.T192M |
| SCAMP4(NM_079834,secretory carrier membrane protein 4,229aa) | g.19:1924123G>A,c.530G>A,p.R177Q |
| SCAMP4(NM_079834,secretory carrier membrane protein 4,229aa) | g.19:1923155C>T,c.482C>T,p.S161L |
| SCAMP4(NM_079834,secretory carrier membrane protein 4,229aa) | g.19:1923118G>A,c.445G>A,p.V149M |
| SCAMP4(NM_079834,secretory carrier membrane protein 4,229aa) | g.19:1923107C>T,c.434C>T,p.P145L |
| SCAMP4(NM_079834,secretory carrier membrane protein 4,229aa) | g.19:1918134G>A,c.145G>A,p.A49T |
| SCAMP3(NM_005698,secretory carrier membrane protein 3,347aa) | g.1:155231927C>T,c.16G>A,p.D6N |
| SCAMP3(NM_005698,secretory carrier membrane protein 3,347aa) | g.1:155231921C>T,c.22G>A,p.G8R |
| SCAMP3(NM_005698,secretory carrier membrane protein 3,347aa) | g.1:155230432G>A,c.163C>T,p.P55S |
| SCAMP3(NM_005698,secretory carrier membrane protein 3,347aa) | g.1:155230411G>A,c.184C>T,p.P62S |
| SCAMP3(NM_005698,secretory carrier membrane protein 3,347aa) | g.1:155230380G>A,c.215C>T,p.S72L |
| SCAMP3(NM_005698,secretory carrier membrane protein 3,347aa) | g.1:155228731A>G,c.403T>C,p.W135R |
| SCAMP3(NM_005698,secretory carrier membrane protein 3,347aa) | g.1:155226571G>C,c.791C>G,p.S264C |
| SCAMP3(NM_005698,secretory carrier membrane protein 3,347aa) | g.1:155226556G>A,c.806C>T,p.P269L |
| SCAMP2(NM_005697,secretory carrier membrane protein 2,329aa) | g.15:75146953del,c.95del,p.32fs |
| SCAMP2(NM_005697,secretory carrier membrane protein 2,329aa) | g.15:75146450G>A,c.137C>T,p.A46V |
| SCAMP2(NM_005697,secretory carrier membrane protein 2,329aa) | g.15:75146379T>A,c.208A>T,p.T70S |