| 基因名 | 突变 |
|---|---|
| CGB2(NM_033378,chorionic gonadotropin, beta polypeptide 2,163aa) | g.19:49536390C>A,c.404C>A,p.A135D |
| CGB2(NM_033378,chorionic gonadotropin, beta polypeptide 2,163aa) | g.19:49535761G>A,c.10G>A,p.G4R |
| CGB1(NM_033377,chorionic gonadotropin, beta polypeptide 1,155aa) | g.19:49539560T>C,c.10A>G,p.R4G |
| CGB1(NM_033377,chorionic gonadotropin, beta polypeptide 1,155aa) | g.19:49538931T>G,c.404A>C,p.D135A |
| CGB1(NM_033377,chorionic gonadotropin, beta polypeptide 1,155aa) | g.19:49538899G>A,c.436C>T,p.L146F |
| CGB1(NM_033377,chorionic gonadotropin, beta polypeptide 1,155aa) | g.19:49538878G>A,c.457C>T,p.P153S |
| CGB1(NM_033377,chorionic gonadotropin, beta polypeptide 1,155aa) | g.19:49538868T>G,c.467A>C,p.X156S |
| CGA(NM_001252383,glycoprotein hormones, alpha polypeptide,147aa) | g.6:87796233G>A,c.181+2C>T,p.61Donor |
| CGA(NM_001252383,glycoprotein hormones, alpha polypeptide,147aa) | g.6:87796137G>A,c.197C>T,p.T66M |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117307108G>A,c.4389G>A,p.Q1463Q |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117307076C>T,c.4357C>T,p.R1453W |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117304834G>C,c.4056G>C,p.Q1352H |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117282538C>A,c.3764C>A,p.S1255X |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117267812T>G,c.3705T>G,p.S1235R |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117267766C>T,c.3659C>T,p.T1220I |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117267591C>T,c.3484C>T,p.R1162X |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117251848C>T,c.3353C>T,p.S1118F |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117251784C>T,c.3289C>T,p.R1097C |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117251704G>A,c.3209G>A,p.R1070Q |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117251700G>A,c.3205G>A,p.G1069R |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117251653C>T,c.3158C>T,p.T1053I |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117250664T>C,c.3080T>C,p.I1027T |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117250575G>C,c.2991G>C,p.L997F |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117243826G>A,c.2898G>A,p.T966T |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117243698G>A,c.2770G>A,p.D924N |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117243612G>A,c.2684G>A,p.S895N |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117235055T>G,c.2562T>G,p.T854T |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117234999G>T,c.2506G>T,p.D836Y |