| 基因名 | 突变 |
|---|---|
| TBCC(NM_003192,tubulin folding cofactor C,346aa) | g.6:42712977C>T,c.835G>A,p.A279T |
| TBCC(NM_003192,tubulin folding cofactor C,346aa) | g.6:42712809T>C,c.1003A>G,p.I335V |
| TBCCD1(NM_001134415,TBCC domain containing 1,557aa) | g.3:186281931C>T,c.188G>A,p.G63E |
| TBCCD1(NM_001134415,TBCC domain containing 1,557aa) | g.3:186281851G>A,c.268C>T,p.R90C |
| TBCCD1(NM_001134415,TBCC domain containing 1,557aa) | g.3:186276252T>C,c.446A>G,p.K149R |
| TBCCD1(NM_001134415,TBCC domain containing 1,557aa) | g.3:186274457A>C,c.600T>G,p.H200Q |
| TBCCD1(NM_001134415,TBCC domain containing 1,557aa) | g.3:186274440C>T,c.617G>A,p.R206Q |
| TBCA(NM_004607,tubulin folding cofactor A,108aa) | g.5:77004086T>C,c.140A>G,p.N47S |
| TBC1D9(NM_015130,TBC1 domain family, member 9 (with GRAM domain),1266aa) | g.4:141600912T>C,c.446A>G,p.H149R |
| TBC1D9(NM_015130,TBC1 domain family, member 9 (with GRAM domain),1266aa) | g.4:141578253C>T,c.2335G>A,p.E779K |
| TBC1D9(NM_015130,TBC1 domain family, member 9 (with GRAM domain),1266aa) | g.4:141560567G>A,c.2353C>T,p.R785W |
| TBC1D9(NM_015130,TBC1 domain family, member 9 (with GRAM domain),1266aa) | g.4:141555132T>C,c.2716A>G,p.I906V |
| TBC1D9(NM_015130,TBC1 domain family, member 9 (with GRAM domain),1266aa) | g.4:141545346C>T,c.3002G>A,p.R1001H |
| TBC1D9(NM_015130,TBC1 domain family, member 9 (with GRAM domain),1266aa) | g.4:141544016T>C,c.3134A>G,p.N1045S |
| TBC1D9(NM_015130,TBC1 domain family, member 9 (with GRAM domain),1266aa) | g.4:141543809G>A,c.3341C>T,p.P1114L |
| TBC1D9(NM_015130,TBC1 domain family, member 9 (with GRAM domain),1266aa) | g.4:141543425C>T,c.3725G>A,p.S1242N |
| TBC1D9B(NM_198868,TBC1 domain family, member 9B (with GRAM domain),1250aa) | g.5:179331789C>T,c.142G>A,p.V48M |
| TBC1D9B(NM_198868,TBC1 domain family, member 9B (with GRAM domain),1250aa) | g.5:179321458C>T,c.505G>A,p.V169M |
| TBC1D9B(NM_198868,TBC1 domain family, member 9B (with GRAM domain),1250aa) | g.5:179320359G>C,c.686C>G,p.S229C |
| TBC1D9B(NM_198868,TBC1 domain family, member 9B (with GRAM domain),1250aa) | g.5:179320240G>A,c.805C>T,p.R269W |
| TBC1D9B(NM_198868,TBC1 domain family, member 9B (with GRAM domain),1250aa) | g.5:179315308G>C,c.1049C>G,p.T350S |
| TBC1D9B(NM_198868,TBC1 domain family, member 9B (with GRAM domain),1250aa) | g.5:179301972C>T,c.2116G>A,p.V706I |
| TBC1D9B(NM_198868,TBC1 domain family, member 9B (with GRAM domain),1250aa) | g.5:179298526C>T,c.2420G>A,p.R807Q |
| TBC1D9B(NM_198868,TBC1 domain family, member 9B (with GRAM domain),1250aa) | g.5:179298491C>T,c.2455G>A,p.E819K |
| TBC1D9B(NM_198868,TBC1 domain family, member 9B (with GRAM domain),1250aa) | g.5:179298470C>G,c.2476G>C,p.V826L |
| TBC1D9B(NM_198868,TBC1 domain family, member 9B (with GRAM domain),1250aa) | g.5:179297459G>A,c.2521C>T,p.R841C |
| TBC1D9B(NM_198868,TBC1 domain family, member 9B (with GRAM domain),1250aa) | g.5:179296831C>T,c.2729G>A,p.G910E |
| TBC1D9B(NM_198868,TBC1 domain family, member 9B (with GRAM domain),1250aa) | g.5:179294798G>A,c.2843C>T,p.T948I |