| Genename | Variants |
|---|---|
| SGCA(NM_000023,sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein),387aa) | g.17:48246521G>A,c.653G>A,p.S218N |
| SGCA(NM_000023,sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein),387aa) | g.17:48245924G>A,c.575G>A,p.R192Q |
| SGCA(NM_000023,sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein),387aa) | g.17:48245315C>T,c.320C>T,p.A107V |
| SFXN5(NM_144579,sideroflexin 5,340aa) | g.2:73268006G>A,c.226C>T,p.R76C |
| SFXN5(NM_144579,sideroflexin 5,340aa) | g.2:73195649G>A,c.755C>T,p.T252M |
| SFXN5(NM_144579,sideroflexin 5,340aa) | g.2:73195646G>A,c.758C>T,p.A253V |
| SFXN4(NM_213649,sideroflexin 4,337aa) | g.10:120925057C>T,c.103G>A,p.E35K |
| SFXN4(NM_213649,sideroflexin 4,337aa) | g.10:120920436G>A,c.325C>T,p.R109X |
| SFXN4(NM_213649,sideroflexin 4,337aa) | g.10:120914629G>A,c.677C>T,p.A226V |
| SFXN3(NM_030971,sideroflexin 3,325aa) | g.10:102799264C>G,c.900C>G,p.N300K |
| SFXN3(NM_030971,sideroflexin 3,325aa) | g.10:102798401G>A,c.785G>A,p.R262H |
| SFXN3(NM_030971,sideroflexin 3,325aa) | g.10:102796962T>C,c.733+2T>C,p.245Donor |
| SFXN3(NM_030971,sideroflexin 3,325aa) | g.10:102795387A>T,c.307A>T,p.N103Y |
| SFXN3(NM_030971,sideroflexin 3,325aa) | g.10:102795282G>A,c.202G>A,p.E68K |
| SFXN3(NM_030971,sideroflexin 3,325aa) | g.10:102792240G>C,c.9+1G>C,p.3Donor |
| SFXN2(NM_178858,sideroflexin 2,322aa) | g.10:104493338C>T,c.799C>T,p.Q267X |
| SFXN2(NM_178858,sideroflexin 2,322aa) | g.10:104491958T>C,c.704T>C,p.M235T |
| SFXN2(NM_178858,sideroflexin 2,322aa) | g.10:104489490C>T,c.518C>T,p.P173L |
| SFXN2(NM_178858,sideroflexin 2,322aa) | g.10:104486800T>C,c.218T>C,p.L73P |
| SFXN1(NM_022754,sideroflexin 1,322aa) | g.5:174948943C>T,c.796C>T,p.P266S |
| SFXN1(NM_022754,sideroflexin 1,322aa) | g.5:174940473A>C,c.604A>C,p.K202Q |
| SFXN1(NM_022754,sideroflexin 1,322aa) | g.5:174938516A>G,c.497A>G,p.N166S |
| SFXN1(NM_022754,sideroflexin 1,322aa) | g.5:174937164G>A,c.388G>A,p.V130I |
| SFXN1(NM_022754,sideroflexin 1,322aa) | g.5:174919263G>A,c.157G>A,p.D53N |
| SFXN1(NM_022754,sideroflexin 1,322aa) | g.5:174919183A>G,c.77A>G,p.N26S |
| SFTPD(NM_003019,surfactant protein D,375aa) | g.10:81706324A>G,c.92T>C,p.M31T |
| SFTPD(NM_003019,surfactant protein D,375aa) | g.10:81702210G>C,c.367C>G,p.L123V |
| SFTPD(NM_003019,surfactant protein D,375aa) | g.10:81702186G>T,c.391C>A,p.P131T |