| 基因名 | 突变 |
|---|---|
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117232642A>G,c.2421A>G,p.I807M |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117232481G>A,c.2260G>A,p.V754M |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117232470C>T,c.2249C>T,p.P750L |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117232267del,c.2046del,p.682fs |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117232263A>T,c.2042A>T,p.E681V |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117232223C>T,c.2002C>T,p.R668C |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117232171C>A,c.1950C>A,p.F650L |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117230454G>C,c.1727G>C,p.G576A |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117227874A>G,c.1666A>G,p.I556V |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117227826G>A,c.1618G>A,p.V540I |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117199709G>A,c.1584G>A,p.E528E |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117199683G>A,c.1558G>A,p.V520I |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117199645_117199647del,c.1520_1522del,p.507_508del |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117199644A>G,c.1519A>G,p.I507V |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117199578A>T,c.1453A>T,p.S485C |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117199533G>A,c.1408G>A,p.V470M |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117188812G>T,c.1327G>T,p.D443Y |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117188736C>A,c.1251C>A,p.N417K |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117180336C>G,c.1052C>G,p.T351S |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117180327T>A,c.1043T>A,p.M348K |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117180324G>A,c.1040G>A,p.R347H |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117180281C>T,c.997C>T,p.L333F |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117180174G>A,c.890G>A,p.R297Q |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117176719C>G,c.861C>G,p.N287K |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117175372A>G,c.650A>G,p.E217G |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117175323G>A,c.601G>A,p.V201M |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117174349G>A,c.509G>A,p.R170H |
| CFTR(NM_000492,cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),1480aa) | g.7:117171122T>C,c.443T>C,p.I148T |