| 基因名 | 突变 |
|---|---|
| TBC1D24(NM_001199107,TBC1 domain family, member 24,559aa) | g.16:2548283A>C,c.1028A>C,p.E343A |
| TBC1D24(NM_001199107,TBC1 domain family, member 24,559aa) | g.16:2547101G>A,c.952G>A,p.V318M |
| TBC1D24(NM_001199107,TBC1 domain family, member 24,559aa) | g.16:2547034C>G,c.885C>G,p.F295L |
| TBC1D24(NM_001199107,TBC1 domain family, member 24,559aa) | g.16:2546957C>T,c.808C>T,p.R270C |
| TBC1D24(NM_001199107,TBC1 domain family, member 24,559aa) | g.16:2546934C>T,c.785C>T,p.S262L |
| TBC1D24(NM_001199107,TBC1 domain family, member 24,559aa) | g.16:2546790G>A,c.641G>A,p.R214H |
| TBC1D24(NM_001199107,TBC1 domain family, member 24,559aa) | g.16:2546606G>A,c.457G>A,p.E153K |
| TBC1D24(NM_001199107,TBC1 domain family, member 24,559aa) | g.16:2546588G>A,c.439G>A,p.D147N |
| TBC1D24(NM_001199107,TBC1 domain family, member 24,559aa) | g.16:2546318C>T,c.169C>T,p.R57C |
| TBC1D24(NM_001199107,TBC1 domain family, member 24,559aa) | g.16:2546171T>C,c.22T>C,p.C8R |
| TBC1D23(NM_001199198,TBC1 domain family, member 23,699aa) | g.3:99998531G>C,c.92G>C,p.C31S |
| TBC1D23(NM_001199198,TBC1 domain family, member 23,699aa) | g.3:100039811G>A,c.2014G>A,p.E672K |
| TBC1D23(NM_001199198,TBC1 domain family, member 23,699aa) | g.3:100016789G>C,c.899G>C,p.S300T |
| TBC1D23(NM_001199198,TBC1 domain family, member 23,699aa) | g.3:100000669C>G,c.249C>G,p.H83Q |
| TBC1D22B(NM_017772,TBC1 domain family, member 22B,505aa) | g.6:37284550C>A,c.1237C>A,p.L413M |
| TBC1D22B(NM_017772,TBC1 domain family, member 22B,505aa) | g.6:37254805C>T,c.824C>T,p.T275M |
| TBC1D22B(NM_017772,TBC1 domain family, member 22B,505aa) | g.6:37250068C>G,c.529C>G,p.P177A |
| TBC1D22A(NM_014346,TBC1 domain family, member 22A,517aa) | g.22:47432979G>A,c.1214G>A,p.R405Q |
| TBC1D22A(NM_014346,TBC1 domain family, member 22A,517aa) | g.22:47370227G>A,c.1057G>A,p.A353T |
| TBC1D22A(NM_014346,TBC1 domain family, member 22A,517aa) | g.22:47370221G>A,c.1051G>A,p.V351M |
| TBC1D22A(NM_014346,TBC1 domain family, member 22A,517aa) | g.22:47370218G>A,c.1048G>A,p.G350S |
| TBC1D22A(NM_014346,TBC1 domain family, member 22A,517aa) | g.22:47193404C>T,c.524C>T,p.T175M |
| TBC1D22A(NM_014346,TBC1 domain family, member 22A,517aa) | g.22:47189678C>G,c.400C>G,p.P134A |
| TBC1D22A(NM_014346,TBC1 domain family, member 22A,517aa) | g.22:47189667C>T,c.389C>T,p.P130L |
| TBC1D22A(NM_014346,TBC1 domain family, member 22A,517aa) | g.22:47189616C>T,c.338C>T,p.T113M |
| TBC1D22A(NM_014346,TBC1 domain family, member 22A,517aa) | g.22:47158733A>C,c.50A>C,p.K17T |
| TBC1D21(NM_153356,TBC1 domain family, member 21,336aa) | g.15:74178913G>A,c.737G>A,p.R246H |
| TBC1D21(NM_153356,TBC1 domain family, member 21,336aa) | g.15:74177124C>T,c.370C>T,p.R124C |