| 基因名 | 突变 |
|---|---|
| TBC1D15(NM_001146214,TBC1 domain family, member 15,682aa) | g.12:72289742C>T,c.895C>T,p.R299C |
| TBC1D15(NM_001146214,TBC1 domain family, member 15,682aa) | g.12:72288585G>C,c.801G>C,p.M267I |
| TBC1D14(NM_020773,TBC1 domain family, member 14,693aa) | g.4:7006636G>C,c.1336G>C,p.E446Q |
| TBC1D14(NM_020773,TBC1 domain family, member 14,693aa) | g.4:6969090A>G,c.782A>G,p.K261R |
| TBC1D14(NM_020773,TBC1 domain family, member 14,693aa) | g.4:6925790A>T,c.674A>T,p.E225V |
| TBC1D14(NM_020773,TBC1 domain family, member 14,693aa) | g.4:6925738A>G,c.622A>G,p.I208V |
| TBC1D14(NM_020773,TBC1 domain family, member 14,693aa) | g.4:6925654C>G,c.538C>G,p.L180V |
| TBC1D14(NM_020773,TBC1 domain family, member 14,693aa) | g.4:6925630G>A,c.514G>A,p.V172I |
| TBC1D14(NM_020773,TBC1 domain family, member 14,693aa) | g.4:6925564C>T,c.448C>T,p.R150C |
| TBC1D14(NM_020773,TBC1 domain family, member 14,693aa) | g.4:6925553A>G,c.437A>G,p.K146R |
| TBC1D14(NM_020773,TBC1 domain family, member 14,693aa) | g.4:6925432G>A,c.316G>A,p.A106T |
| TBC1D14(NM_020773,TBC1 domain family, member 14,693aa) | g.4:6925244C>T,c.128C>T,p.A43V |
| TBC1D14(NM_020773,TBC1 domain family, member 14,693aa) | g.4:6925237C>G,c.121C>G,p.L41V |
| TBC1D13(NM_018201,TBC1 domain family, member 13,400aa) | g.9:131566319C>T,c.839C>T,p.S280L |
| TBC1D13(NM_018201,TBC1 domain family, member 13,400aa) | g.9:131565718G>A,c.733G>A,p.D245N |
| TBC1D13(NM_018201,TBC1 domain family, member 13,400aa) | g.9:131565554T>C,c.569T>C,p.V190A |
| TBC1D13(NM_018201,TBC1 domain family, member 13,400aa) | g.9:131559462C>T,c.512C>T,p.T171M |
| TBC1D13(NM_018201,TBC1 domain family, member 13,400aa) | g.9:131554824G>T,c.354G>T,p.E118D |
| TBC1D12(NM_015188,TBC1 domain family, member 12,775aa) | g.10:96269925A>T,c.1678A>T,p.I560F |
| TBC1D12(NM_015188,TBC1 domain family, member 12,775aa) | g.10:96259980G>A,c.1415G>A,p.R472H |
| TBC1D12(NM_015188,TBC1 domain family, member 12,775aa) | g.10:96256917A>G,c.1400A>G,p.N467S |
| TBC1D12(NM_015188,TBC1 domain family, member 12,775aa) | g.10:96234479C>T,c.1150C>T,p.R384C |
| TBC1D12(NM_015188,TBC1 domain family, member 12,775aa) | g.10:96201714A>C,c.1033A>C,p.K345Q |
| TBC1D12(NM_015188,TBC1 domain family, member 12,775aa) | g.10:96162402C>G,c.32C>G,p.S11W |
| TBC1D10C(NM_198517,TBC1 domain family, member 10C,446aa) | g.11:67177218G>A,c.1334G>A,p.R445H |
| TBC1D10C(NM_198517,TBC1 domain family, member 10C,446aa) | g.11:67176972G>A,c.1088G>A,p.R363Q |
| TBC1D10C(NM_198517,TBC1 domain family, member 10C,446aa) | g.11:67176915G>A,c.1031G>A,p.R344Q |
| TBC1D10C(NM_198517,TBC1 domain family, member 10C,446aa) | g.11:67176572G>A,c.961G>A,p.A321T |