| 基因名 | 突变 |
|---|---|
| SCFD2(NM_152540,sec1 family domain containing 2,684aa) | g.4:54231541C>G,c.568G>C,p.A190P |
| SCFD2(NM_152540,sec1 family domain containing 2,684aa) | g.4:54231354T>C,c.755A>G,p.N252S |
| SCFD2(NM_152540,sec1 family domain containing 2,684aa) | g.4:54218924C>A,c.848G>T,p.G283V |
| SCFD2(NM_152540,sec1 family domain containing 2,684aa) | g.4:54218834G>A,c.938C>T,p.A313V |
| SCFD2(NM_152540,sec1 family domain containing 2,684aa) | g.4:54179825G>T,c.1113C>A,p.N371K |
| SCFD2(NM_152540,sec1 family domain containing 2,684aa) | g.4:54011745A>G,c.1316T>C,p.I439T |
| SCFD2(NM_152540,sec1 family domain containing 2,684aa) | g.4:54011526A>G,c.1535T>C,p.L512S |
| SCFD2(NM_152540,sec1 family domain containing 2,684aa) | g.4:53786965C>T,c.1634G>A,p.R545Q |
| SCFD2(NM_152540,sec1 family domain containing 2,684aa) | g.4:53752023G>T,c.1853C>A,p.P618H |
| SCFD2(NM_152540,sec1 family domain containing 2,684aa) | g.4:53740161C>T,c.2030G>A,p.R677Q |
| SCFD1(NM_016106,sec1 family domain containing 1,642aa) | g.14:31204062C>G,c.1903C>G,p.Q635E |
| SCFD1(NM_016106,sec1 family domain containing 1,642aa) | g.14:31204014A>C,c.1855A>C,p.I619L |
| SCFD1(NM_016106,sec1 family domain containing 1,642aa) | g.14:31164033A>G,c.1297A>G,p.T433A |
| SCFD1(NM_016106,sec1 family domain containing 1,642aa) | g.14:31143181G>A,c.1138G>A,p.A380T |
| SCFD1(NM_016106,sec1 family domain containing 1,642aa) | g.14:31139468C>T,c.862C>T,p.H288Y |
| SCFD1(NM_016106,sec1 family domain containing 1,642aa) | g.14:31119819C>A,c.718C>A,p.L240I |
| SCFD1(NM_016106,sec1 family domain containing 1,642aa) | g.14:31107341A>G,c.323A>G,p.N108S |
| SCFD1(NM_016106,sec1 family domain containing 1,642aa) | g.14:31099759T>C,c.209T>C,p.I70T |
| SCFD1(NM_016106,sec1 family domain containing 1,642aa) | g.14:31099738A>G,c.188A>G,p.K63R |
| SCFD1(NM_016106,sec1 family domain containing 1,642aa) | g.14:31097427G>A,c.74G>A,p.R25H |
| SCEL(NM_144777,sciellin,688aa) | g.13:78192153A>G,c.1586A>G,p.N529S |
| SCEL(NM_144777,sciellin,688aa) | g.13:78191762G>T,c.1480G>T,p.V494L |
| SCEL(NM_144777,sciellin,688aa) | g.13:78191754T>C,c.1472T>C,p.L491P |
| SCEL(NM_144777,sciellin,688aa) | g.13:78188078A>G,c.1439A>G,p.K480R |
| SCEL(NM_144777,sciellin,688aa) | g.13:78178550G>A,c.1157G>A,p.R386K |
| SCEL(NM_144777,sciellin,688aa) | g.13:78176832A>C,c.1021A>C,p.N341H |
| SCEL(NM_144777,sciellin,688aa) | g.13:78176817G>C,c.1006G>C,p.V336L |
| SCEL(NM_144777,sciellin,688aa) | g.13:78173524G>A,c.857+1G>A,p.286Donor |