| 基因名 | 突变 |
|---|---|
| TBCE(NM_001079515,tubulin folding cofactor E,527aa) | g.1:235597526G>A,c.668G>A,p.R223Q |
| TBCE(NM_001079515,tubulin folding cofactor E,527aa) | g.1:235597525C>T,c.667C>T,p.R223W |
| TBCE(NM_001079515,tubulin folding cofactor E,527aa) | g.1:235594073T>C,c.614T>C,p.V205A |
| TBCE(NM_001079515,tubulin folding cofactor E,527aa) | g.1:235594040C>T,c.581C>T,p.P194L |
| TBCE(NM_001079515,tubulin folding cofactor E,527aa) | g.1:235577776C>T,c.214C>T,p.P72S |
| TBCE(NM_001079515,tubulin folding cofactor E,527aa) | g.1:235564850G>A,c.133G>A,p.E45K |
| TBCD(NM_005993,tubulin folding cofactor D,1192aa) | g.17:80899349T>C,c.3554T>C,p.L1185P |
| TBCD(NM_005993,tubulin folding cofactor D,1192aa) | g.17:80899313G>A,c.3518G>A,p.R1173H |
| TBCD(NM_005993,tubulin folding cofactor D,1192aa) | g.17:80895933A>G,c.3290A>G,p.E1097G |
| TBCD(NM_005993,tubulin folding cofactor D,1192aa) | g.17:80895231C>G,c.3276C>G,p.I1092M |
| TBCD(NM_005993,tubulin folding cofactor D,1192aa) | g.17:80888426A>C,c.3020A>C,p.E1007A |
| TBCD(NM_005993,tubulin folding cofactor D,1192aa) | g.17:80887287C>T,c.2902C>T,p.R968C |
| TBCD(NM_005993,tubulin folding cofactor D,1192aa) | g.17:80887065G>A,c.2770G>A,p.V924M |
| TBCD(NM_005993,tubulin folding cofactor D,1192aa) | g.17:80885864C>T,c.2693C>T,p.T898I |
| TBCD(NM_005993,tubulin folding cofactor D,1192aa) | g.17:80882881C>T,c.2327C>T,p.S776L |
| TBCD(NM_005993,tubulin folding cofactor D,1192aa) | g.17:80882827C>T,c.2273C>T,p.T758M |
| TBCD(NM_005993,tubulin folding cofactor D,1192aa) | g.17:80863857T>C,c.1850T>C,p.M617T |
| TBCD(NM_005993,tubulin folding cofactor D,1192aa) | g.17:80828105G>A,c.1324G>A,p.A442T |
| TBCD(NM_005993,tubulin folding cofactor D,1192aa) | g.17:80710097G>T,c.28G>T,p.G10C |
| TBCC(NM_003192,tubulin folding cofactor C,346aa) | g.6:42713811T>C,c.1A>G,p.M1V |
| TBCC(NM_003192,tubulin folding cofactor C,346aa) | g.6:42713766T>C,c.46A>G,p.M16V |
| TBCC(NM_003192,tubulin folding cofactor C,346aa) | g.6:42713742G>C,c.70C>G,p.L24V |
| TBCC(NM_003192,tubulin folding cofactor C,346aa) | g.6:42713618A>G,c.194T>C,p.V65A |
| TBCC(NM_003192,tubulin folding cofactor C,346aa) | g.6:42713554C>A,c.258G>T,p.E86D |
| TBCC(NM_003192,tubulin folding cofactor C,346aa) | g.6:42713480C>T,c.332G>A,p.R111Q |
| TBCC(NM_003192,tubulin folding cofactor C,346aa) | g.6:42713340T>A,c.472A>T,p.I158F |
| TBCC(NM_003192,tubulin folding cofactor C,346aa) | g.6:42713307G>A,c.505C>T,p.P169S |
| TBCC(NM_003192,tubulin folding cofactor C,346aa) | g.6:42713274G>A,c.538C>T,p.P180S |