| 基因名 | 突变 |
|---|---|
| SFTPB(NM_000542,surfactant protein B,393aa) | g.2:85888606G>C,c.1172C>G,p.P391R |
| SFTPA2(NM_001098668,surfactant protein A2,248aa) | g.10:81320119C>T,c.-54+1G>A,p.5'UTRDonor |
| SFTPA2(NM_001098668,surfactant protein A2,248aa) | g.10:81319214G>T,c.26C>A,p.T9N |
| SFTPA2(NM_001098668,surfactant protein A2,248aa) | g.10:81319184G>A,c.56C>T,p.A19V |
| SFTPA2(NM_001098668,surfactant protein A2,248aa) | g.10:81319092C>G,c.148G>C,p.V50L |
| SFTPA2(NM_001098668,surfactant protein A2,248aa) | g.10:81318737G>A,c.197C>T,p.T66I |
| SFTPA2(NM_001098668,surfactant protein A2,248aa) | g.10:81318717T>C,c.217A>G,p.N73D |
| SFTPA2(NM_001098668,surfactant protein A2,248aa) | g.10:81318693C>T,c.241G>A,p.V81I |
| SFTPA2(NM_001098668,surfactant protein A2,248aa) | g.10:81318681G>A,c.253C>T,p.R85C |
| SFTPA2(NM_001098668,surfactant protein A2,248aa) | g.10:81318680C>T,c.254G>A,p.R85H |
| SFTPA2(NM_001098668,surfactant protein A2,248aa) | g.10:81318663C>G,c.271G>C,p.A91P |
| SFTPA2(NM_001098668,surfactant protein A2,248aa) | g.10:81317864T>G,c.314A>C,p.E105A |
| SFTPA2(NM_001098668,surfactant protein A2,248aa) | g.10:81317045G>T,c.667C>A,p.Q223K |
| SFTPA1(NM_005411,surfactant protein A1,248aa) | g.10:81373846C>T,c.724C>T,p.R242X |
| SFTPA1(NM_005411,surfactant protein A1,248aa) | g.10:81373777C>T,c.655C>T,p.R219W |
| SFTPA1(NM_005411,surfactant protein A1,248aa) | g.10:81372984T>C,c.332T>C,p.L111P |
| SFTPA1(NM_005411,surfactant protein A1,248aa) | g.10:81372166C>G,c.271C>G,p.P91A |
| SFTPA1(NM_005411,surfactant protein A1,248aa) | g.10:81372081A>G,c.186A>G,p.P62P |
| SFTPA1(NM_005411,surfactant protein A1,248aa) | g.10:81371729C>G,c.148C>G,p.L50V |
| SFTPA1(NM_005411,surfactant protein A1,248aa) | g.10:81371654G>A,c.73G>A,p.V25I |
| SFTPA1(NM_005411,surfactant protein A1,248aa) | g.10:81371637T>C,c.56T>C,p.V19A |
| SFTPA1(NM_005411,surfactant protein A1,248aa) | g.10:81371607A>C,c.26A>C,p.N9T |
| SFTA3(NM_001101341,surfactant associated 3,94aa) | g.14:36946282C>T,c.155G>A,p.R52Q |
| SFTA3(NM_001101341,surfactant associated 3,94aa) | g.14:36946210G>A,c.227C>T,p.T76M |
| SFTA2(NM_205854,surfactant associated 2,78aa) | g.6:30899524T>C,c.110A>G,p.N37S |
| SFT2D3(NM_032740,SFT2 domain containing 3,215aa) | g.2:128459473C>A,c.371C>A,p.A124E |
| SFT2D3(NM_032740,SFT2 domain containing 3,215aa) | g.2:128459214C>G,c.112C>G,p.R38G |
| SFT2D3(NM_032740,SFT2 domain containing 3,215aa) | g.2:128459195G>C,c.93G>C,p.K31N |