| 基因名 | 突变 |
|---|---|
| SBF1(NM_002972,SET binding factor 1,1893aa) | g.22:50897741C>T,c.3769G>A,p.D1257N |
| SBF1(NM_002972,SET binding factor 1,1893aa) | g.22:50897738C>T,c.3772G>A,p.A1258T |
| SBF1(NM_002972,SET binding factor 1,1893aa) | g.22:50893795G>A,c.4412C>T,p.T1471M |
| SBF1(NM_002972,SET binding factor 1,1893aa) | g.22:50893781G>C,c.4426C>G,p.R1476G |
| SBF1(NM_002972,SET binding factor 1,1893aa) | g.22:50893487G>A,c.4639C>T,p.R1547W |
| SBF1(NM_002972,SET binding factor 1,1893aa) | g.22:50893302G>A,c.4753C>T,p.R1585W |
| SBF1(NM_002972,SET binding factor 1,1893aa) | g.22:50893287T>C,c.4768A>G,p.T1590A |
| SBF1(NM_002972,SET binding factor 1,1893aa) | g.22:50893057G>T,c.4927C>A,p.P1643T |
| SBF1(NM_002972,SET binding factor 1,1893aa) | g.22:50893019C>G,c.4965G>C,p.Q1655H |
| SBF1(NM_002972,SET binding factor 1,1893aa) | g.22:50886714G>A,c.5311C>T,p.R1771C |
| SBF1(NM_002972,SET binding factor 1,1893aa) | g.22:50885659G>A,c.5594C>T,p.T1865M |
| SBF1(NM_002972,SET binding factor 1,1893aa) | g.22:50885623G>A,c.5630C>T,p.P1877L |
| SBF1(NM_002972,SET binding factor 1,1893aa) | g.22:50885581G>A,c.5672C>T,p.S1891L |
| SBDS(NM_016038,Shwachman-Bodian-Diamond syndrome,250aa) | g.7:66460278C>A,c.127G>T,p.V43L |
| SBDS(NM_016038,Shwachman-Bodian-Diamond syndrome,250aa) | g.7:66459197A>G,c.258+2T>C,p.86Donor |
| SBDS(NM_016038,Shwachman-Bodian-Diamond syndrome,250aa) | g.7:66458275C>T,c.388G>A,p.V130M |
| SBDS(NM_016038,Shwachman-Bodian-Diamond syndrome,250aa) | g.7:66453476A>G,c.635T>C,p.I212T |
| SAYSD1(NM_018322,SAYSVFN motif domain containing 1,183aa) | g.6:39082831C>T,c.35G>A,p.R12Q |
| SAYSD1(NM_018322,SAYSVFN motif domain containing 1,183aa) | g.6:39073365T>C,c.395A>G,p.Y132C |
| SAV1(NM_021818,salvador homolog 1 (Drosophila),383aa) | g.14:51132169C>T,c.263G>A,p.R88K |
| SAV1(NM_021818,salvador homolog 1 (Drosophila),383aa) | g.14:51132015A>C,c.417T>G,p.F139L |
| SAV1(NM_021818,salvador homolog 1 (Drosophila),383aa) | g.14:51131977G>A,c.455C>T,p.A152V |
| SATL1(NM_001012980,spermidine/spermine N1-acetyl transferase-like 1,632aa) | g.X:84363716G>C,c.259C>G,p.P87A |
| SATL1(NM_001012980,spermidine/spermine N1-acetyl transferase-like 1,632aa) | g.X:84363457G>A,c.518C>T,p.T173I |
| SATL1(NM_001012980,spermidine/spermine N1-acetyl transferase-like 1,632aa) | g.X:84363383C>T,c.592G>A,p.V198M |
| SATL1(NM_001012980,spermidine/spermine N1-acetyl transferase-like 1,632aa) | g.X:84363164T>C,c.811A>G,p.M271V |
| SATL1(NM_001012980,spermidine/spermine N1-acetyl transferase-like 1,632aa) | g.X:84363140A>G,c.835T>C,p.W279R |
| SATL1(NM_001012980,spermidine/spermine N1-acetyl transferase-like 1,632aa) | g.X:84363068G>A,c.907C>T,p.Q303X |