| 基因名 | 突变 |
|---|---|
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149775901G>A,c.3838G>A,p.G1280R |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149773043G>A,c.3709G>A,p.A1237T |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149772954T>A,c.3620T>A,p.M1207K |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149772280C>G,c.3527C>G,p.P1176R |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149771714del,c.3492del,p.1164fs |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149771660T>G,c.3438T>G,p.S1146R |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149759278G>T,c.2842G>T,p.A948S |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149759272C>T,c.2836C>T,p.P946S |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149759198C>T,c.2762C>T,p.P921L |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149759096T>C,c.2660T>C,p.V887A |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149758888C>G,c.2575C>G,p.Q859E |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149755744G>C,c.1993G>C,p.A665P |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149755446G>A,c.1867G>A,p.A623T |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149755423C>T,c.1844C>T,p.S615L |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149755393T>C,c.1814T>C,p.M605T |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149755362G>A,c.1783G>A,p.V595I |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149755037G>A,c.1624G>A,p.E542K |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149754951G>T,c.1538G>T,p.G513V |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149754523del,c.1285del,p.429fs |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149754325C>T,c.1229C>T,p.S410L |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149754216G>T,c.1120G>T,p.A374S |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149753894G>A,c.1028G>A,p.S343N |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149748435G>A,c.535G>A,p.V179I |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149748349A>G,c.449A>G,p.N150S |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149743806G>A,c.295G>A,p.A99T |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149743698C>T,c.187C>T,p.R63W |
| TCOF1(NM_001135243,Treacher Collins-Franceschetti syndrome 1,1488aa) | g.5:149740732C>T,c.122C>T,p.A41V |
| TCN2(NM_000355,transcobalamin II,427aa) | g.22:31019044G>A,c.1196G>A,p.R399Q |