| Genename | Variants |
|---|---|
| TBC1D9B(NM_198868,TBC1 domain family, member 9B (with GRAM domain),1250aa) | g.5:179292318C>T,c.3008G>A,p.R1003Q |
| TBC1D9B(NM_198868,TBC1 domain family, member 9B (with GRAM domain),1250aa) | g.5:179290890G>A,c.3311C>T,p.A1104V |
| TBC1D9B(NM_198868,TBC1 domain family, member 9B (with GRAM domain),1250aa) | g.5:179290845T>G,c.3356A>C,p.K1119T |
| TBC1D9B(NM_198868,TBC1 domain family, member 9B (with GRAM domain),1250aa) | g.5:179290812C>G,c.3389G>C,p.G1130A |
| TBC1D9B(NM_198868,TBC1 domain family, member 9B (with GRAM domain),1250aa) | g.5:179290804C>T,c.3397G>A,p.G1133S |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101670570G>A,c.586C>T,p.L196F |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101667019G>A,c.671C>T,p.T224M |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101666938G>A,c.752C>T,p.T251M |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101666881G>A,c.809C>T,p.P270L |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101656749G>A,c.926C>T,p.T309M |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101656726T>C,c.949A>G,p.T317A |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101654161C>T,c.1240G>A,p.V414M |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101654110T>C,c.1291A>G,p.M431V |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101652557C>T,c.1481G>A,p.R494H |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101650032G>A,c.1747C>T,p.R583W |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101644769T>C,c.2303A>G,p.Y768C |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101643856C>T,c.2464G>A,p.D822N |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101638839C>T,c.2620G>A,p.G874R |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101638199T>C,c.2726A>G,p.Y909C |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101627925C>T,c.2860G>A,p.G954R |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101627915T>C,c.2870A>G,p.N957S |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101624572C>T,c.3134G>A,p.G1045E |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101624471T>C,c.3235A>G,p.R1079G |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101624384T>C,c.3322A>G,p.M1108V |
| TBC1D8(NM_001102426,TBC1 domain family, member 8 (with GRAM domain),1140aa) | g.2:101624330_101624331insA,c.3375_3376insT,p.1125fs |
| TBC1D8B(NM_017752,TBC1 domain family, member 8B (with GRAM domain),1120aa) | g.X:106117019G>A,c.3187G>A,p.E1063K |
| TBC1D8B(NM_017752,TBC1 domain family, member 8B (with GRAM domain),1120aa) | g.X:106116915A>G,c.3083A>G,p.E1028G |
| TBC1D8B(NM_017752,TBC1 domain family, member 8B (with GRAM domain),1120aa) | g.X:106111694A>C,c.2800A>C,p.S934R |