| 基因名 | 突变 |
|---|---|
| TTLL5(NM_015072,tubulin tyrosine ligase-like family, member 5,1281aa) | g.14:76219268A>G,c.1520A>G,p.Y507C |
| TTLL5(NM_015072,tubulin tyrosine ligase-like family, member 5,1281aa) | g.14:76201620C>A,c.1269C>A,p.F423L |
| TTLL5(NM_015072,tubulin tyrosine ligase-like family, member 5,1281aa) | g.14:76201577G>A,c.1226G>A,p.R409Q |
| TTLL5(NM_015072,tubulin tyrosine ligase-like family, member 5,1281aa) | g.14:76201565G>A,c.1214G>A,p.R405Q |
| TTLL5(NM_015072,tubulin tyrosine ligase-like family, member 5,1281aa) | g.14:76165596G>A,c.568G>A,p.V190I |
| TTLL5(NM_015072,tubulin tyrosine ligase-like family, member 5,1281aa) | g.14:76156609C>T,c.446C>T,p.A149V |
| TTLL5(NM_015072,tubulin tyrosine ligase-like family, member 5,1281aa) | g.14:76147921C>T,c.215C>T,p.T72M |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219618888C>T,c.3376C>T,p.L1126F |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219617619G>A,c.3110G>A,p.R1037H |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219617523A>G,c.3014A>G,p.D1005G |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219614853A>G,c.2857A>G,p.S953G |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219611877C>T,c.2126C>T,p.A709V |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219611871G>A,c.2120G>A,p.R707H |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219611801C>T,c.2050C>T,p.R684C |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219605289C>T,c.1643C>T,p.S548L |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219604825C>T,c.1532C>T,p.T511I |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219604821G>C,c.1528G>C,p.D510H |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219603652G>A,c.1253G>A,p.R418H |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219603432G>C,c.1033G>C,p.A345P |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219603331C>T,c.932C>T,p.A311V |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219603127C>T,c.728C>T,p.S243L |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219603082C>T,c.683C>T,p.T228M |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219602779C>T,c.380C>T,p.P127L |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219602754C>T,c.355C>T,p.R119C |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219602743C>T,c.344C>T,p.T115I |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219602725C>T,c.326C>T,p.P109L |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219602719C>T,c.320C>T,p.S107F |
| TTLL4(NM_014640,tubulin tyrosine ligase-like family, member 4,1199aa) | g.2:219602540G>T,c.141G>T,p.Q47H |