| 基因名 | 突变 |
|---|---|
| VPS41(NM_014396,vacuolar protein sorting 41 homolog (S. cerevisiae),854aa) | g.7:38807138G>A,c.1246C>T,p.R416C |
| VPS41(NM_014396,vacuolar protein sorting 41 homolog (S. cerevisiae),854aa) | g.7:38805215C>T,c.1294G>A,p.E432K |
| VPS41(NM_014396,vacuolar protein sorting 41 homolog (S. cerevisiae),854aa) | g.7:38803086A>G,c.1391T>C,p.I464T |
| VPS41(NM_014396,vacuolar protein sorting 41 homolog (S. cerevisiae),854aa) | g.7:38791849C>T,c.1853G>A,p.S618N |
| VPS41(NM_014396,vacuolar protein sorting 41 homolog (S. cerevisiae),854aa) | g.7:38766582G>C,c.2411C>G,p.A804G |
| VPS41(NM_014396,vacuolar protein sorting 41 homolog (S. cerevisiae),854aa) | g.7:38765916G>A,c.2495C>T,p.A832V |
| VPS41(NM_014396,vacuolar protein sorting 41 homolog (S. cerevisiae),854aa) | g.7:38765883C>T,c.2528G>A,p.R843H |
| VPS41(NM_014396,vacuolar protein sorting 41 homolog (S. cerevisiae),854aa) | g.7:38765857T>C,c.2554A>G,p.M852V |
| VPS39(NM_015289,vacuolar protein sorting 39 homolog (S. cerevisiae),875aa) | g.15:42479527A>G,c.476T>C,p.M159T |
| VPS39(NM_015289,vacuolar protein sorting 39 homolog (S. cerevisiae),875aa) | g.15:42457972C>A,c.1723G>T,p.D575Y |
| VPS39(NM_015289,vacuolar protein sorting 39 homolog (S. cerevisiae),875aa) | g.15:42455832C>A,c.2121G>T,p.M707I |
| VPS37D(NM_001077621,vacuolar protein sorting 37 homolog D (S. cerevisiae),251aa) | g.7:73085564G>A,c.614G>A,p.R205Q |
| VPS37D(NM_001077621,vacuolar protein sorting 37 homolog D (S. cerevisiae),251aa) | g.7:73085471G>A,c.521G>A,p.R174H |
| VPS37D(NM_001077621,vacuolar protein sorting 37 homolog D (S. cerevisiae),251aa) | g.7:73083915G>A,c.305G>A,p.R102Q |
| VPS37C(NM_017966,vacuolar protein sorting 37 homolog C (S. cerevisiae),355aa) | g.11:60906301T>C,c.1A>G,p.M1V |
| VPS37C(NM_017966,vacuolar protein sorting 37 homolog C (S. cerevisiae),355aa) | g.11:60906279G>T,c.23C>A,p.T8N |
| VPS37C(NM_017966,vacuolar protein sorting 37 homolog C (S. cerevisiae),355aa) | g.11:60901634G>A,c.139C>T,p.R47W |
| VPS37C(NM_017966,vacuolar protein sorting 37 homolog C (S. cerevisiae),355aa) | g.11:60901535G>A,c.238C>T,p.R80W |
| VPS37C(NM_017966,vacuolar protein sorting 37 homolog C (S. cerevisiae),355aa) | g.11:60899932G>A,c.428C>T,p.S143F |
| VPS37C(NM_017966,vacuolar protein sorting 37 homolog C (S. cerevisiae),355aa) | g.11:60899915G>A,c.445C>T,p.R149C |
| VPS37C(NM_017966,vacuolar protein sorting 37 homolog C (S. cerevisiae),355aa) | g.11:60899815A>T,c.545T>A,p.V182D |
| VPS37C(NM_017966,vacuolar protein sorting 37 homolog C (S. cerevisiae),355aa) | g.11:60899767A>G,c.593T>C,p.L198S |
| VPS37C(NM_017966,vacuolar protein sorting 37 homolog C (S. cerevisiae),355aa) | g.11:60899701T>C,c.659A>G,p.H220R |
| VPS37C(NM_017966,vacuolar protein sorting 37 homolog C (S. cerevisiae),355aa) | g.11:60899600C>A,c.760G>T,p.G254C |
| VPS37C(NM_017966,vacuolar protein sorting 37 homolog C (S. cerevisiae),355aa) | g.11:60899531T>C,c.829A>G,p.M277V |
| VPS37B(NM_024667,vacuolar protein sorting 37 homolog B (S. cerevisiae),285aa) | g.12:123380564C>T,c.46G>A,p.V16M |
| VPS37B(NM_024667,vacuolar protein sorting 37 homolog B (S. cerevisiae),285aa) | g.12:123380519T>C,c.91A>G,p.M31V |
| VPS37B(NM_024667,vacuolar protein sorting 37 homolog B (S. cerevisiae),285aa) | g.12:123355506G>A,c.214C>T,p.R72C |