| Genename | Variants |
|---|---|
| SMCR7(NM_139162,Smith-Magenis syndrome chromosome region, candidate 7,454aa) | g.17:18167495C>T,c.782C>T,p.A261V |
| SMCR7(NM_139162,Smith-Magenis syndrome chromosome region, candidate 7,454aa) | g.17:18167207G>A,c.494G>A,p.R165Q |
| SMCR7(NM_139162,Smith-Magenis syndrome chromosome region, candidate 7,454aa) | g.17:18166551C>T,c.299C>T,p.S100L |
| SMCR7(NM_139162,Smith-Magenis syndrome chromosome region, candidate 7,454aa) | g.17:18166069G>A,c.35G>A,p.R12H |
| SMCR7L(NM_019008,Smith-Magenis syndrome chromosome region, candidate 7-like,463aa) | g.22:39909847G>A,c.911G>A,p.R304H |
| SMCR7L(NM_019008,Smith-Magenis syndrome chromosome region, candidate 7-like,463aa) | g.22:39909802C>T,c.866C>T,p.P289L |
| SMCR7L(NM_019008,Smith-Magenis syndrome chromosome region, candidate 7-like,463aa) | g.22:39909726G>A,c.790G>A,p.D264N |
| SMCR7L(NM_019008,Smith-Magenis syndrome chromosome region, candidate 7-like,463aa) | g.22:39909600G>A,c.664G>A,p.D222N |
| SMCR7L(NM_019008,Smith-Magenis syndrome chromosome region, candidate 7-like,463aa) | g.22:39908419C>T,c.505C>T,p.R169W |
| SMCR7L(NM_019008,Smith-Magenis syndrome chromosome region, candidate 7-like,463aa) | g.22:39908249C>T,c.335C>T,p.P112L |
| SMCR7L(NM_019008,Smith-Magenis syndrome chromosome region, candidate 7-like,463aa) | g.22:39907975C>T,c.266C>T,p.T89M |
| SMCR7L(NM_019008,Smith-Magenis syndrome chromosome region, candidate 7-like,463aa) | g.22:39907941G>C,c.232G>C,p.G78R |
| SMCP(NM_030663,sperm mitochondria-associated cysteine-rich protein,116aa) | g.1:152856995C>G,c.97C>G,p.Q33E |
| SMCO4(NM_020179,single-pass membrane protein with coiled-coil domains 4,59aa) | g.11:93212348T>C,c.8A>G,p.Q3R |
| SMCO3(NM_001013698,single-pass membrane protein with coiled-coil domains 3,225aa) | g.12:14959470A>G,c.145T>C,p.C49R |
| SMCO3(NM_001013698,single-pass membrane protein with coiled-coil domains 3,225aa) | g.12:14959391T>C,c.224A>G,p.K75R |
| SMCO3(NM_001013698,single-pass membrane protein with coiled-coil domains 3,225aa) | g.12:14959086G>A,c.529C>T,p.R177C |
| SMCO2(NM_001145010,single-pass membrane protein with coiled-coil domains 2,343aa) | g.12:27655047C>T,c.1025C>T,p.P342L |
| SMCO2(NM_001145010,single-pass membrane protein with coiled-coil domains 2,343aa) | g.12:27648710C>T,c.755C>T,p.T252M |
| SMCO2(NM_001145010,single-pass membrane protein with coiled-coil domains 2,343aa) | g.12:27641473G>A,c.593G>A,p.S198N |
| SMCO2(NM_001145010,single-pass membrane protein with coiled-coil domains 2,343aa) | g.12:27641445C>T,c.565C>T,p.R189W |
| SMCO2(NM_001145010,single-pass membrane protein with coiled-coil domains 2,343aa) | g.12:27628640A>G,c.488A>G,p.N163S |
| SMCO2(NM_001145010,single-pass membrane protein with coiled-coil domains 2,343aa) | g.12:27628612A>G,c.460A>G,p.K154E |
| SMCO2(NM_001145010,single-pass membrane protein with coiled-coil domains 2,343aa) | g.12:27628607C>T,c.455C>T,p.T152M |
| SMCHD1(NM_015295,structural maintenance of chromosomes flexible hinge domain containing 1,2005aa) | g.18:2777848T>C,c.5411T>C,p.I1804T |
| SMCHD1(NM_015295,structural maintenance of chromosomes flexible hinge domain containing 1,2005aa) | g.18:2771570G>A,c.5006G>A,p.R1669Q |
| SMCHD1(NM_015295,structural maintenance of chromosomes flexible hinge domain containing 1,2005aa) | g.18:2762212G>A,c.4544G>A,p.R1515K |
| SMCHD1(NM_015295,structural maintenance of chromosomes flexible hinge domain containing 1,2005aa) | g.18:2751365A>G,c.4255A>G,p.T1419A |