| 基因名 | 突变 |
|---|---|
| P2RX7(NM_002562,purinergic receptor P2X, ligand-gated ion channel, 7,595aa) | g.12:121600301G>A,c.511G>A,p.E171K |
| P2RX7(NM_002562,purinergic receptor P2X, ligand-gated ion channel, 7,595aa) | g.12:121600253T>C,c.463T>C,p.Y155H |
| P2RX7(NM_002562,purinergic receptor P2X, ligand-gated ion channel, 7,595aa) | g.12:121600238G>A,c.448G>A,p.G150R |
| P2RX7(NM_002562,purinergic receptor P2X, ligand-gated ion channel, 7,595aa) | g.12:121598766C>T,c.425C>T,p.P142L |
| P2RX7(NM_002562,purinergic receptor P2X, ligand-gated ion channel, 7,595aa) | g.12:121598721C>T,c.380C>T,p.T127M |
| P2RX7(NM_002562,purinergic receptor P2X, ligand-gated ion channel, 7,595aa) | g.12:121593936C>T,c.349C>T,p.R117W |
| P2RX7(NM_002562,purinergic receptor P2X, ligand-gated ion channel, 7,595aa) | g.12:121592733G>A,c.271G>A,p.A91T |
| P2RX7(NM_002562,purinergic receptor P2X, ligand-gated ion channel, 7,595aa) | g.12:121592715C>T,c.253C>T,p.H85Y |
| P2RX7(NM_002562,purinergic receptor P2X, ligand-gated ion channel, 7,595aa) | g.12:121592689T>C,c.227T>C,p.V76A |
| P2RX7(NM_002562,purinergic receptor P2X, ligand-gated ion channel, 7,595aa) | g.12:121570899G>T,c.125+1G>T,p.42Donor |
| P2RX6(NM_005446,purinergic receptor P2X, ligand-gated ion channel, 6,441aa) | g.22:21377698C>T,c.773C>T,p.A258V |
| P2RX6(NM_005446,purinergic receptor P2X, ligand-gated ion channel, 6,441aa) | g.22:21377650G>A,c.725G>A,p.R242H |
| P2RX6(NM_005446,purinergic receptor P2X, ligand-gated ion channel, 6,441aa) | g.22:21377643G>A,c.718G>A,p.V240M |
| P2RX6(NM_005446,purinergic receptor P2X, ligand-gated ion channel, 6,441aa) | g.22:21377302G>A,c.535G>A,p.V179M |
| P2RX6(NM_005446,purinergic receptor P2X, ligand-gated ion channel, 6,441aa) | g.22:21376969C>T,c.392C>T,p.P131L |
| P2RX6(NM_005446,purinergic receptor P2X, ligand-gated ion channel, 6,441aa) | g.22:21369576T>G,c.113T>G,p.V38G |
| P2RX6(NM_005446,purinergic receptor P2X, ligand-gated ion channel, 6,441aa) | g.22:21369572C>T,c.109C>T,p.R37W |
| P2RX5(NM_002561,purinergic receptor P2X, ligand-gated ion channel, 5,422aa) | g.17:3599205A>T,c.95T>A,p.L32Q |
| P2RX5(NM_002561,purinergic receptor P2X, ligand-gated ion channel, 5,422aa) | g.17:3595009C>T,c.217G>A,p.V73M |
| P2RX5(NM_002561,purinergic receptor P2X, ligand-gated ion channel, 5,422aa) | g.17:3594277del,c.333del,p.111fs |
| P2RX5(NM_002561,purinergic receptor P2X, ligand-gated ion channel, 5,422aa) | g.17:3594275del,c.335del,p.112fs |
| P2RX5(NM_002561,purinergic receptor P2X, ligand-gated ion channel, 5,422aa) | g.17:3593781A>G,c.473T>C,p.L158S |
| P2RX5(NM_002561,purinergic receptor P2X, ligand-gated ion channel, 5,422aa) | g.17:3593422C>T,c.556G>A,p.E186K |
| P2RX5(NM_002561,purinergic receptor P2X, ligand-gated ion channel, 5,422aa) | g.17:3593389G>A,c.589C>T,p.R197C |
| P2RX5(NM_002561,purinergic receptor P2X, ligand-gated ion channel, 5,422aa) | g.17:3593367G>C,c.611C>G,p.S204C |
| P2RX5(NM_002561,purinergic receptor P2X, ligand-gated ion channel, 5,422aa) | g.17:3591933C>T,c.874G>A,p.G292R |
| P2RX5(NM_002561,purinergic receptor P2X, ligand-gated ion channel, 5,422aa) | g.17:3591383G>A,c.904C>T,p.R302X |
| P2RX5(NM_002561,purinergic receptor P2X, ligand-gated ion channel, 5,422aa) | g.17:3591359G>A,c.928C>T,p.R310C |