| 基因名 | 突变 |
|---|---|
| GTF3C5(NM_001122823,general transcription factor IIIC, polypeptide 5, 63kDa,526aa) | g.9:135919250C>A,c.509C>A,p.P170Q |
| GTF3C5(NM_001122823,general transcription factor IIIC, polypeptide 5, 63kDa,526aa) | g.9:135919235C>T,c.494C>T,p.P165L |
| GTF3C5(NM_001122823,general transcription factor IIIC, polypeptide 5, 63kDa,526aa) | g.9:135919225C>A,c.484C>A,p.Q162K |
| GTF3C5(NM_001122823,general transcription factor IIIC, polypeptide 5, 63kDa,526aa) | g.9:135919198C>T,c.457C>T,p.R153W |
| GTF3C5(NM_001122823,general transcription factor IIIC, polypeptide 5, 63kDa,526aa) | g.9:135917600C>T,c.280C>T,p.R94W |
| GTF3C5(NM_001122823,general transcription factor IIIC, polypeptide 5, 63kDa,526aa) | g.9:135917579C>T,c.259C>T,p.R87C |
| GTF3C4(NM_012204,general transcription factor IIIC, polypeptide 4, 90kDa,822aa) | g.9:135555189G>A,c.2183G>A,p.R728Q |
| GTF3C4(NM_012204,general transcription factor IIIC, polypeptide 4, 90kDa,822aa) | g.9:135553706G>A,c.700G>A,p.G234R |
| GTF3C4(NM_012204,general transcription factor IIIC, polypeptide 4, 90kDa,822aa) | g.9:135553409G>A,c.403G>A,p.A135T |
| GTF3C4(NM_012204,general transcription factor IIIC, polypeptide 4, 90kDa,822aa) | g.9:135545995G>A,c.10G>A,p.A4T |
| GTF3C3(NM_012086,general transcription factor IIIC, polypeptide 3, 102kDa,886aa) | g.2:197662526T>C,c.209A>G,p.N70S |
| GTF3C3(NM_012086,general transcription factor IIIC, polypeptide 3, 102kDa,886aa) | g.2:197657762_197657764del,c.327_329del,p.109_110del |
| GTF3C3(NM_012086,general transcription factor IIIC, polypeptide 3, 102kDa,886aa) | g.2:197657753G>C,c.338C>G,p.P113R |
| GTF3C3(NM_012086,general transcription factor IIIC, polypeptide 3, 102kDa,886aa) | g.2:197653962C>T,c.859G>A,p.E287K |
| GTF3C3(NM_012086,general transcription factor IIIC, polypeptide 3, 102kDa,886aa) | g.2:197645351C>T,c.1150G>A,p.V384M |
| GTF3C3(NM_012086,general transcription factor IIIC, polypeptide 3, 102kDa,886aa) | g.2:197631401G>A,c.2426C>T,p.P809L |
| GTF3C3(NM_012086,general transcription factor IIIC, polypeptide 3, 102kDa,886aa) | g.2:197631303G>C,c.2524C>G,p.P842A |
| GTF3C2(NM_001521,general transcription factor IIIC, polypeptide 2, beta 110kDa,911aa) | g.2:27564999G>A,c.671C>T,p.P224L |
| GTF3C2(NM_001521,general transcription factor IIIC, polypeptide 2, beta 110kDa,911aa) | g.2:27559188G>C,c.1232C>G,p.A411G |
| GTF3C2(NM_001521,general transcription factor IIIC, polypeptide 2, beta 110kDa,911aa) | g.2:27558788C>T,c.1463G>A,p.R488Q |
| GTF3C2(NM_001521,general transcription factor IIIC, polypeptide 2, beta 110kDa,911aa) | g.2:27549588C>T,c.2690G>A,p.R897Q |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27544655C>T,c.806G>A,p.R269Q |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27539991C>T,c.901G>A,p.G301R |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27518255G>A,c.1465C>T,p.R489W |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27512582C>T,c.1991G>A,p.R664Q |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27509969T>C,c.2147A>G,p.N716S |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27509014T>A,c.2294A>T,p.K765I |
| GTF3C1(NM_001520,general transcription factor IIIC, polypeptide 1, alpha 220kDa,2109aa) | g.16:27506663T>C,c.2501A>G,p.Q834R |