| 基因名 | 突变 |
|---|---|
| SCAF11(NM_004719,SR-related CTD-associated factor 11,1463aa) | g.12:46316858G>A,c.3986C>T,p.T1329M |
| SC5D(NM_001024956,sterol-C5-desaturase,299aa) | g.11:121177767G>A,c.446G>A,p.R149H |
| SC5D(NM_001024956,sterol-C5-desaturase,299aa) | g.11:121175079C>T,c.220C>T,p.R74C |
| SC5D(NM_001024956,sterol-C5-desaturase,299aa) | g.11:121174170G>A,c.86G>A,p.R29Q |
| SBSPON(NM_153225,somatomedin B and thrombospondin, type 1 domain containing,264aa) | g.8:74005131A>G,c.172T>C,p.F58L |
| SBSPON(NM_153225,somatomedin B and thrombospondin, type 1 domain containing,264aa) | g.8:73993283G>A,c.380C>T,p.P127L |
| SBSPON(NM_153225,somatomedin B and thrombospondin, type 1 domain containing,264aa) | g.8:73982161A>G,c.556T>C,p.W186R |
| SBSN(NM_001166034,suprabasin,590aa) | g.19:36019158G>A,c.26C>T,p.S9F |
| SBSN(NM_001166034,suprabasin,590aa) | g.19:36018970G>T,c.214C>A,p.L72I |
| SBSN(NM_001166034,suprabasin,590aa) | g.19:36018769G>A,c.415C>T,p.H139Y |
| SBSN(NM_001166034,suprabasin,590aa) | g.19:36018648C>G,c.536G>C,p.G179A |
| SBSN(NM_001166034,suprabasin,590aa) | g.19:36018523T>C,c.661A>G,p.T221A |
| SBSN(NM_001166034,suprabasin,590aa) | g.19:36018435G>A,c.749C>T,p.A250V |
| SBSN(NM_001166034,suprabasin,590aa) | g.19:36018331T>C,c.853A>G,p.T285A |
| SBSN(NM_001166034,suprabasin,590aa) | g.19:36017928G>C,c.1256C>G,p.A419G |
| SBSN(NM_001166034,suprabasin,590aa) | g.19:36017614C>T,c.1570G>A,p.G524R |
| SBSN(NM_001166034,suprabasin,590aa) | g.19:36017598T>C,c.1586A>G,p.N529S |
| SBSN(NM_001166034,suprabasin,590aa) | g.19:36015774G>A,c.1691C>T,p.P564L |
| SBSN(NM_001166034,suprabasin,590aa) | g.19:36014432C>T,c.1753G>A,p.V585I |
| SBNO2(NM_014963,strawberry notch homolog 2 (Drosophila),1366aa) | g.19:1154271A>C,c.5T>G,p.L2R |
| SBNO2(NM_014963,strawberry notch homolog 2 (Drosophila),1366aa) | g.19:1147417G>A,c.170C>T,p.P57L |
| SBNO2(NM_014963,strawberry notch homolog 2 (Drosophila),1366aa) | g.19:1127692C>T,c.352G>A,p.V118M |
| SBNO2(NM_014963,strawberry notch homolog 2 (Drosophila),1366aa) | g.19:1127632C>T,c.412G>A,p.D138N |
| SBNO2(NM_014963,strawberry notch homolog 2 (Drosophila),1366aa) | g.19:1122510C>T,c.962G>A,p.R321Q |
| SBNO2(NM_014963,strawberry notch homolog 2 (Drosophila),1366aa) | g.19:1122179G>A,c.1108C>T,p.R370W |
| SBNO2(NM_014963,strawberry notch homolog 2 (Drosophila),1366aa) | g.19:1119039C>T,c.1498G>A,p.E500K |
| SBNO2(NM_014963,strawberry notch homolog 2 (Drosophila),1366aa) | g.19:1113701G>A,c.2080C>T,p.P694S |
| SBNO2(NM_014963,strawberry notch homolog 2 (Drosophila),1366aa) | g.19:1108401C>T,c.3919G>A,p.G1307S |