| 基因名 | 突变 |
|---|---|
| PLSCR1(NM_021105,phospholipid scramblase 1,318aa) | g.3:146239781C>T,c.415G>A,p.V139I |
| PLSCR1(NM_021105,phospholipid scramblase 1,318aa) | g.3:146234909G>A,c.784C>T,p.H262Y |
| PLSCR1(NM_021105,phospholipid scramblase 1,318aa) | g.3:146233866G>T,c.923C>A,p.T308N |
| PLS3(NM_001282337,plastin 3,617aa) | g.X:114882309A>G,c.1693A>G,p.T565A |
| PLS3(NM_001282337,plastin 3,617aa) | g.X:114874753A>G,c.886A>G,p.I296V |
| PLS1(NM_001172312,plastin 1,629aa) | g.3:142430803C>T,c.1844C>T,p.T615M |
| PLS1(NM_001172312,plastin 1,629aa) | g.3:142430409C>T,c.1696C>T,p.R566C |
| PLS1(NM_001172312,plastin 1,629aa) | g.3:142413338G>A,c.1205G>A,p.R402Q |
| PLS1(NM_001172312,plastin 1,629aa) | g.3:142408506A>T,c.1028A>T,p.D343V |
| PLS1(NM_001172312,plastin 1,629aa) | g.3:142402975T>C,c.707T>C,p.V236A |
| PLS1(NM_001172312,plastin 1,629aa) | g.3:142402915C>T,c.647C>T,p.S216L |
| PLS1(NM_001172312,plastin 1,629aa) | g.3:142395072A>G,c.438A>G,p.I146M |
| PLRG1(NM_002669,pleiotropic regulator 1,514aa) | g.4:155468902T>A,c.220A>T,p.T74S |
| PLRG1(NM_002669,pleiotropic regulator 1,514aa) | g.4:155467291A>T,c.388T>A,p.L130I |
| PLRG1(NM_002669,pleiotropic regulator 1,514aa) | g.4:155467062G>A,c.418C>T,p.R140C |
| PLRG1(NM_002669,pleiotropic regulator 1,514aa) | g.4:155467019G>C,c.461C>G,p.S154C |
| PLRG1(NM_002669,pleiotropic regulator 1,514aa) | g.4:155467014G>A,c.466C>T,p.R156C |
| PLP2(NM_002668,proteolipid protein 2 (colonic epithelium-enriched),152aa) | g.X:49030770C>A,c.434C>A,p.T145N |
| PLP2(NM_002668,proteolipid protein 2 (colonic epithelium-enriched),152aa) | g.X:49029750C>T,c.265C>T,p.L89F |
| PLP2(NM_002668,proteolipid protein 2 (colonic epithelium-enriched),152aa) | g.X:49028409G>A,c.62G>A,p.R21H |
| PLP2(NM_002668,proteolipid protein 2 (colonic epithelium-enriched),152aa) | g.X:49028363C>T,c.16C>T,p.R6C |
| PLP1(NM_001128834,proteolipid protein 1,277aa) | g.X:103045491G>A,c.799G>A,p.V267I |
| PLOD3(NM_001084,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3,738aa) | g.7:100859543G>A,c.403C>T,p.R135C |
| PLOD3(NM_001084,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3,738aa) | g.7:100859494G>A,c.452C>T,p.A151V |
| PLOD3(NM_001084,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3,738aa) | g.7:100856416A>G,c.749T>C,p.I250T |
| PLOD3(NM_001084,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3,738aa) | g.7:100856214T>C,c.788A>G,p.N263S |
| PLOD3(NM_001084,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3,738aa) | g.7:100855929G>T,c.887C>A,p.P296H |
| PLOD3(NM_001084,procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3,738aa) | g.7:100855929G>C,c.887C>G,p.P296R |