| 基因名 | 突变 |
|---|---|
| TBC1D17(NM_024682,TBC1 domain family, member 17,648aa) | g.19:50387731T>C,c.1259T>C,p.M420T |
| TBC1D17(NM_024682,TBC1 domain family, member 17,648aa) | g.19:50386991G>A,c.1115G>A,p.R372H |
| TBC1D17(NM_024682,TBC1 domain family, member 17,648aa) | g.19:50386135C>T,c.913C>T,p.R305W |
| TBC1D17(NM_024682,TBC1 domain family, member 17,648aa) | g.19:50386106G>A,c.884G>A,p.R295H |
| TBC1D17(NM_024682,TBC1 domain family, member 17,648aa) | g.19:50386090G>A,c.868G>A,p.V290M |
| TBC1D17(NM_024682,TBC1 domain family, member 17,648aa) | g.19:50385547G>A,c.688G>A,p.V230M |
| TBC1D17(NM_024682,TBC1 domain family, member 17,648aa) | g.19:50384713C>T,c.508C>T,p.R170C |
| TBC1D17(NM_024682,TBC1 domain family, member 17,648aa) | g.19:50384677C>T,c.472C>T,p.R158C |
| TBC1D17(NM_024682,TBC1 domain family, member 17,648aa) | g.19:50384594G>A,c.389G>A,p.R130H |
| TBC1D17(NM_024682,TBC1 domain family, member 17,648aa) | g.19:50383645C>T,c.305C>T,p.S102L |
| TBC1D17(NM_024682,TBC1 domain family, member 17,648aa) | g.19:50383636T>C,c.296T>C,p.L99P |
| TBC1D17(NM_024682,TBC1 domain family, member 17,648aa) | g.19:50383627G>A,c.287G>A,p.R96Q |
| TBC1D17(NM_024682,TBC1 domain family, member 17,648aa) | g.19:50383591A>G,c.251A>G,p.D84G |
| TBC1D16(NM_019020,TBC1 domain family, member 16,767aa) | g.17:77984464C>T,c.274G>A,p.E92K |
| TBC1D16(NM_019020,TBC1 domain family, member 16,767aa) | g.17:77984397C>T,c.341G>A,p.R114Q |
| TBC1D16(NM_019020,TBC1 domain family, member 16,767aa) | g.17:77984394C>T,c.344G>A,p.R115H |
| TBC1D16(NM_019020,TBC1 domain family, member 16,767aa) | g.17:77984254C>T,c.484G>A,p.E162K |
| TBC1D16(NM_019020,TBC1 domain family, member 16,767aa) | g.17:77984239C>T,c.499G>A,p.G167S |
| TBC1D16(NM_019020,TBC1 domain family, member 16,767aa) | g.17:77984172G>A,c.566C>T,p.T189M |
| TBC1D16(NM_019020,TBC1 domain family, member 16,767aa) | g.17:77984163G>A,c.575C>T,p.P192L |
| TBC1D16(NM_019020,TBC1 domain family, member 16,767aa) | g.17:77984131G>A,c.607C>T,p.R203W |
| TBC1D16(NM_019020,TBC1 domain family, member 16,767aa) | g.17:77984122C>T,c.616G>A,p.A206T |
| TBC1D16(NM_019020,TBC1 domain family, member 16,767aa) | g.17:77926588C>T,c.809G>A,p.R270Q |
| TBC1D16(NM_019020,TBC1 domain family, member 16,767aa) | g.17:77926526C>T,c.871G>A,p.A291T |
| TBC1D16(NM_019020,TBC1 domain family, member 16,767aa) | g.17:77924245G>T,c.1222C>A,p.L408M |
| TBC1D16(NM_019020,TBC1 domain family, member 16,767aa) | g.17:77921593C>T,c.1579G>A,p.V527I |
| TBC1D16(NM_019020,TBC1 domain family, member 16,767aa) | g.17:77916004G>A,c.1910C>T,p.T637M |
| TBC1D16(NM_019020,TBC1 domain family, member 16,767aa) | g.17:77915864G>A,c.2050C>T,p.R684W |