| 基因名 | 突变 |
|---|---|
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27506606C>T,c.2558G>A,p.C853Y |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27506594G>A,c.2570C>T,p.P857L |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27506540G>A,c.2624C>T,p.T875M |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27506188T>C,c.2674A>G,p.I892V |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27504571G>A,c.2825C>T,p.T942M |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27503824A>C,c.2986T>G,p.L996V |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27499714C>G,c.3534G>C,p.W1178C |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27499593G>A,c.3655C>T,p.R1219W |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27492452del,c.4144del,p.1382fs |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27487800C>T,c.4325G>A,p.S1442N |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27483156C>T,c.4439G>A,p.R1480H |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27481681G>A,c.4562C>T,p.T1521M |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27481661C>T,c.4582G>A,p.D1528N |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27481532C>T,c.4711G>A,p.V1571I |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27480797C>T,c.4889G>A,p.R1630H |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27480630C>T,c.5056G>A,p.A1686T |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27476061G>A,c.5452C>T,p.R1818W |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27475815C>T,c.5698G>A,p.G1900R |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27474910A>G,c.5876T>C,p.F1959S |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27474886T>C,c.5900A>G,p.N1967S |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27472786G>A,c.6215C>T,p.P2072L |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27472779G>C,c.6222C>G,p.S2074R |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27472772C>T,c.6229G>A,p.E2077K |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27472717C>T,c.6284G>A,p.R2095H |
| GTF3A(NM_002097,general transcription factor IIIA,365aa) | g.13:28009031G>C,c.733G>C,p.V245L |
| GTF3A(NM_002097,general transcription factor IIIA,365aa) | g.13:28008980C>T,c.682C>T,p.R228C |
| GTF3A(NM_002097,general transcription factor IIIA,365aa) | g.13:28004018A>C,c.314A>C,p.N105T |
| GTF3A(NM_002097,general transcription factor IIIA,365aa) | g.13:28001305C>T,c.278C>T,p.T93I |