| 基因名 | 突变 |
|---|---|
| GTF2IRD2(NM_173537,GTF2I repeat domain containing 2,949aa) | g.7:74564078A>G,c.1825A>G,p.N609D |
| GTF2IRD2(NM_173537,GTF2I repeat domain containing 2,949aa) | g.7:74564043T>C,c.1790T>C,p.L597S |
| GTF2IRD2(NM_173537,GTF2I repeat domain containing 2,949aa) | g.7:74563688G>A,c.1435G>A,p.E479K |
| GTF2IRD2(NM_173537,GTF2I repeat domain containing 2,949aa) | g.7:74550823C>G,c.761C>G,p.S254C |
| GTF2IRD2(NM_173537,GTF2I repeat domain containing 2,949aa) | g.7:74524835G>A,c.79G>A,p.V27M |
| GTF2IRD1(NM_001199207,GTF2I repeat domain containing 1,976aa) | g.7:74015470C>T,c.2825C>T,p.P942L |
| GTF2IRD1(NM_001199207,GTF2I repeat domain containing 1,976aa) | g.7:74015394C>A,c.2749C>A,p.R917S |
| GTF2IRD1(NM_001199207,GTF2I repeat domain containing 1,976aa) | g.7:74005286G>A,c.2627G>A,p.R876Q |
| GTF2IRD1(NM_001199207,GTF2I repeat domain containing 1,976aa) | g.7:73971995A>G,c.2146A>G,p.I716V |
| GTF2IRD1(NM_001199207,GTF2I repeat domain containing 1,976aa) | g.7:73969779G>A,c.2074G>A,p.G692R |
| GTF2IRD1(NM_001199207,GTF2I repeat domain containing 1,976aa) | g.7:73969541A>G,c.2050A>G,p.M684V |
| GTF2IRD1(NM_001199207,GTF2I repeat domain containing 1,976aa) | g.7:73959106C>T,c.1736C>T,p.A579V |
| GTF2IRD1(NM_001199207,GTF2I repeat domain containing 1,976aa) | g.7:73954263C>T,c.1679C>T,p.S560L |
| GTF2IRD1(NM_001199207,GTF2I repeat domain containing 1,976aa) | g.7:73933815C>T,c.778C>T,p.R260W |
| GTF2IRD1(NM_001199207,GTF2I repeat domain containing 1,976aa) | g.7:73933758C>T,c.721C>T,p.R241W |
| GTF2IRD1(NM_001199207,GTF2I repeat domain containing 1,976aa) | g.7:73929852G>A,c.443G>A,p.R148Q |
| GTF2IRD1(NM_001199207,GTF2I repeat domain containing 1,976aa) | g.7:73929825G>T,c.416G>T,p.G139V |
| GTF2IRD1(NM_001199207,GTF2I repeat domain containing 1,976aa) | g.7:73927266G>A,c.230G>A,p.R77Q |
| GTF2I(NM_032999,general transcription factor IIi,998aa) | g.7:74159243G>A,c.1897G>A,p.V633I |
| GTF2I(NM_032999,general transcription factor IIi,998aa) | g.7:74159167G>C,c.1821G>C,p.L607F |
| GTF2I(NM_032999,general transcription factor IIi,998aa) | g.7:74119529C>T,c.620C>T,p.S207L |
| GTF2I(NM_032999,general transcription factor IIi,998aa) | g.7:74119498G>T,c.589G>T,p.G197C |
| GTF2H5(NM_207118,general transcription factor IIH, polypeptide 5,71aa) | g.6:158613100G>A,c.127G>A,p.V43I |
| GTF2H4(NM_001517,general transcription factor IIH, polypeptide 4, 52kDa,462aa) | g.6:30880156G>A,c.1010G>A,p.R337Q |
| GTF2H4(NM_001517,general transcription factor IIH, polypeptide 4, 52kDa,462aa) | g.6:30879818C>T,c.853C>T,p.R285C |
| GTF2H4(NM_001517,general transcription factor IIH, polypeptide 4, 52kDa,462aa) | g.6:30877821C>T,c.355C>T,p.R119C |
| GTF2H3(NM_001516,general transcription factor IIH, polypeptide 3, 34kDa,308aa) | g.12:124118409G>A,c.3G>A,p.M1I |
| GTF2H2(NM_001515,general transcription factor IIH, polypeptide 2, 44kDa,395aa) | g.5:70351261A>T,c.388T>A,p.S130T |