| 基因名 | 突变 |
|---|---|
| TCP10L(NM_144659,t-complex 10-like,215aa) | g.21:33949152G>A,c.580C>T,p.R194C |
| TCP10L(NM_144659,t-complex 10-like,215aa) | g.21:33949151C>T,c.581G>A,p.R194H |
| TCP10L(NM_144659,t-complex 10-like,215aa) | g.21:33949136G>A,c.596C>T,p.A199V |
| TCP10L(NM_144659,t-complex 10-like,215aa) | g.21:33949098G>A,c.634C>T,p.R212W |
| TCP10L2(NM_001145121,t-complex 10-like 2,353aa) | g.6:167595334G>T,c.992G>T,p.R331L |
| TCP10L2(NM_001145121,t-complex 10-like 2,353aa) | g.6:167595300C>T,c.958C>T,p.R320X |
| TCP10L2(NM_001145121,t-complex 10-like 2,353aa) | g.6:167594221G>C,c.870G>C,p.Q290H |
| TCP10L2(NM_001145121,t-complex 10-like 2,353aa) | g.6:167594216C>T,c.865C>T,p.R289W |
| TCP10L2(NM_001145121,t-complex 10-like 2,353aa) | g.6:167594182A>C,c.831A>C,p.E277D |
| TCP10L2(NM_001145121,t-complex 10-like 2,353aa) | g.6:167592605T>G,c.764T>G,p.V255G |
| TCP10L2(NM_001145121,t-complex 10-like 2,353aa) | g.6:167592571G>A,c.730G>A,p.A244T |
| TCP10L2(NM_001145121,t-complex 10-like 2,353aa) | g.6:167592535G>C,c.694G>C,p.G232R |
| TCP10L2(NM_001145121,t-complex 10-like 2,353aa) | g.6:167592524T>C,c.683T>C,p.L228P |
| TCP10L2(NM_001145121,t-complex 10-like 2,353aa) | g.6:167591995G>A,c.622G>A,p.G208S |
| TCP10L2(NM_001145121,t-complex 10-like 2,353aa) | g.6:167591956C>T,c.583C>T,p.Q195X |
| TCP10L2(NM_001145121,t-complex 10-like 2,353aa) | g.6:167591954G>A,c.581G>A,p.R194H |
| TCP10L2(NM_001145121,t-complex 10-like 2,353aa) | g.6:167590551G>A,c.427G>A,p.A143T |
| TCP10L2(NM_001145121,t-complex 10-like 2,353aa) | g.6:167587388C>T,c.292C>T,p.R98W |
| TCP10L2(NM_001145121,t-complex 10-like 2,353aa) | g.6:167585721A>G,c.89A>G,p.K30R |
| TCP10L2(NM_001145121,t-complex 10-like 2,353aa) | g.6:167585654G>A,c.22G>A,p.A8T |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149777959A>G,c.4385A>G,p.K1462R |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149776403A>G,c.4340A>G,p.K1447R |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149776355G>C,c.4292G>C,p.G1431A |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149776232C>T,c.4169C>T,p.A1390V |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149776159A>C,c.4096A>C,p.K1366Q |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149776112C>T,c.4049C>T,p.S1350L |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149776067A>G,c.4004A>G,p.K1335R |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149775976C>T,c.3913C>T,p.P1305S |