
| Genename | Variants |
|---|---|
| SFTPD(NM_003019,surfactant protein D,375aa) | g.10:81701722T>C,c.538A>G,p.T180A |
| SFTPD(NM_003019,surfactant protein D,375aa) | g.10:81701215_81701216insC,c.605_606insG,p.202fs |
| SFTPD(NM_003019,surfactant protein D,375aa) | g.10:81697868A>T,c.868T>A,p.S290T |
| SFTPD(NM_003019,surfactant protein D,375aa) | g.10:81697811C>T,c.925G>A,p.E309K |
| SFTPC(NM_001172357,surfactant protein C,191aa) | g.8:22021517G>A,c.539G>A,p.S180N |
| SFTPC(NM_001172357,surfactant protein C,191aa) | g.8:22021460G>A,c.482G>A,p.R161Q |
| SFTPC(NM_001172357,surfactant protein C,191aa) | g.8:22021060_22021061del,c.435+1del,p.145Donordel |
| SFTPC(NM_001172357,surfactant protein C,191aa) | g.8:22021037C>A,c.413C>A,p.T138N |
| SFTPC(NM_001172357,surfactant protein C,191aa) | g.8:22020632C>T,c.241C>T,p.R81C |
| SFTPC(NM_001172357,surfactant protein C,191aa) | g.8:22020159G>T,c.115G>T,p.V39L |
| SFTPC(NM_001172357,surfactant protein C,191aa) | g.8:22020112G>A,c.68G>A,p.R23Q |
| SFTPC(NM_001172357,surfactant protein C,191aa) | g.8:22019351G>A,c.10G>A,p.G4S |
| SFTPB(NM_000542,surfactant protein B,393aa) | g.2:85895338T>G,c.5A>C,p.H2P |
| SFTPB(NM_000542,surfactant protein B,393aa) | g.2:85895264_85895266del,c.77_79del,p.26_27del |
| SFTPB(NM_000542,surfactant protein B,393aa) | g.2:85894807C>T,c.226G>A,p.G76R |
| SFTPB(NM_000542,surfactant protein B,393aa) | g.2:85893781C>T,c.388G>A,p.D130N |
| SFTPB(NM_000542,surfactant protein B,393aa) | g.2:85893775A>G,c.394T>C,p.F132L |
| SFTPB(NM_000542,surfactant protein B,393aa) | g.2:85893760C>T,c.409G>A,p.D137N |
| SFTPB(NM_000542,surfactant protein B,393aa) | g.2:85893757A>C,c.412T>G,p.Y138D |
| SFTPB(NM_000542,surfactant protein B,393aa) | g.2:85893741G>A,c.428C>T,p.T143I |
| SFTPB(NM_000542,surfactant protein B,393aa) | g.2:85892908C>T,c.439G>A,p.G147S |
| SFTPB(NM_000542,surfactant protein B,393aa) | g.2:85892818G>A,c.529C>T,p.R177W |
| SFTPB(NM_000542,surfactant protein B,393aa) | g.2:85892817C>T,c.530G>A,p.R177Q |
| SFTPB(NM_000542,surfactant protein B,393aa) | g.2:85892782C>T,c.565G>A,p.V189I |
| SFTPB(NM_000542,surfactant protein B,393aa) | g.2:85892767G>A,c.580C>T,p.P194S |
| SFTPB(NM_000542,surfactant protein B,393aa) | g.2:85892764C>T,c.583G>A,p.G195R |
| SFTPB(NM_000542,surfactant protein B,393aa) | g.2:85890966G>A,c.713C>T,p.A238V |
| SFTPB(NM_000542,surfactant protein B,393aa) | g.2:85890880C>T,c.799G>A,p.V267I |