| 基因名 | 突变 |
|---|---|
| GTF2H2D(NM_001042490,general transcription factor IIH, polypeptide 2D,395aa) | g.5:68863596A>G,c.301A>G,p.I101V |
| GTF2H1(NM_001142307,general transcription factor IIH, polypeptide 1, 62kDa,548aa) | g.11:18387397G>A,c.1628G>A,p.R543H |
| GTF2H1(NM_001142307,general transcription factor IIH, polypeptide 1, 62kDa,548aa) | g.11:18387342A>G,c.1573A>G,p.I525V |
| GTF2H1(NM_001142307,general transcription factor IIH, polypeptide 1, 62kDa,548aa) | g.11:18380113T>C,c.1393T>C,p.Y465H |
| GTF2H1(NM_001142307,general transcription factor IIH, polypeptide 1, 62kDa,548aa) | g.11:18362900C>T,c.700C>T,p.R234W |
| GTF2H1(NM_001142307,general transcription factor IIH, polypeptide 1, 62kDa,548aa) | g.11:18362868G>A,c.668G>A,p.R223H |
| GTF2H1(NM_001142307,general transcription factor IIH, polypeptide 1, 62kDa,548aa) | g.11:18359742A>G,c.434A>G,p.N145S |
| GTF2F1(NM_002096,general transcription factor IIF, polypeptide 1, 74kDa,517aa) | g.19:6389522C>T,c.259G>A,p.V87I |
| GTF2F1(NM_002096,general transcription factor IIF, polypeptide 1, 74kDa,517aa) | g.19:6381586G>T,c.877C>A,p.Q293K |
| GTF2F1(NM_002096,general transcription factor IIF, polypeptide 1, 74kDa,517aa) | g.19:6380998C>A,c.1148G>T,p.G383V |
| GTF2F1(NM_002096,general transcription factor IIF, polypeptide 1, 74kDa,517aa) | g.19:6380696G>A,c.1237C>T,p.R413W |
| GTF2F1(NM_002096,general transcription factor IIF, polypeptide 1, 74kDa,517aa) | g.19:6380663G>A,c.1270C>T,p.R424W |
| GTF2F1(NM_002096,general transcription factor IIF, polypeptide 1, 74kDa,517aa) | g.19:6380492C>T,c.1354G>A,p.V452M |
| GTF2E2(NM_002095,general transcription factor IIE, polypeptide 2, beta 34kDa,291aa) | g.8:30511055C>A,c.61G>T,p.V21L |
| GTF2E2(NM_002095,general transcription factor IIE, polypeptide 2, beta 34kDa,291aa) | g.8:30510964G>C,c.152C>G,p.S51C |
| GTF2E2(NM_002095,general transcription factor IIE, polypeptide 2, beta 34kDa,291aa) | g.8:30469967A>G,c.398T>C,p.I133T |
| GTF2E2(NM_002095,general transcription factor IIE, polypeptide 2, beta 34kDa,291aa) | g.8:30469817T>C,c.548A>G,p.K183R |
| GTF2E1(NM_005513,general transcription factor IIE, polypeptide 1, alpha 56kDa,439aa) | g.3:120500099C>T,c.1102C>T,p.R368C |
| GTF2E1(NM_005513,general transcription factor IIE, polypeptide 1, alpha 56kDa,439aa) | g.3:120500093C>T,c.1096C>T,p.P366S |
| GTF2E1(NM_005513,general transcription factor IIE, polypeptide 1, alpha 56kDa,439aa) | g.3:120495491G>A,c.872G>A,p.G291D |
| GTF2E1(NM_005513,general transcription factor IIE, polypeptide 1, alpha 56kDa,439aa) | g.3:120495353C>T,c.734C>T,p.S245F |
| GTF2E1(NM_005513,general transcription factor IIE, polypeptide 1, alpha 56kDa,439aa) | g.3:120469550C>G,c.151C>G,p.L51V |
| GTF2E1(NM_005513,general transcription factor IIE, polypeptide 1, alpha 56kDa,439aa) | g.3:120469467G>A,c.68G>A,p.R23Q |
| GTF2B(NM_001514,general transcription factor IIB,316aa) | g.1:89322983T>A,c.723A>T,p.E241D |
| GTF2A1(NM_001278940,general transcription factor IIA, 1, 19/37kDa,326aa) | g.14:81676282T>C,c.-85-2A>G,p.5'UTRAcceptor |
| GTDC1(NM_001006636,glycosyltransferase-like domain containing 1,458aa) | g.2:144966320T>C,c.29A>G,p.Y10C |
| GTDC1(NM_001006636,glycosyltransferase-like domain containing 1,458aa) | g.2:144966285G>T,c.64C>A,p.Q22K |
| GTDC1(NM_001006636,glycosyltransferase-like domain containing 1,458aa) | g.2:144966278T>A,c.71A>T,p.E24V |