| Genename | Variants |
|---|---|
| SEC14L1(NM_001204410,SEC14-like 1 (S. cerevisiae),715aa) | g.17:75190846A>C,c.562A>C,p.T188P |
| SEC14L1(NM_001204410,SEC14-like 1 (S. cerevisiae),715aa) | g.17:75189591del,c.434del,p.145fs |
| SEC13(NM_001136026,SEC13 homolog (S. cerevisiae),368aa) | g.3:10360927C>G,c.37G>C,p.E13Q |
| SEC13(NM_001136026,SEC13 homolog (S. cerevisiae),368aa) | g.3:10360860T>C,c.104A>G,p.Y35C |
| SEC13(NM_001136026,SEC13 homolog (S. cerevisiae),368aa) | g.3:10357018C>T,c.289G>A,p.A97T |
| SEC13(NM_001136026,SEC13 homolog (S. cerevisiae),368aa) | g.3:10345849C>T,c.854G>A,p.R285H |
| SEC13(NM_001136026,SEC13 homolog (S. cerevisiae),368aa) | g.3:10345823C>T,c.880G>A,p.A294T |
| SEBOX(NM_001080837,SEBOX homeobox,216aa) | g.17:26692224_26692225insG,c.27_28insC,p.9fs |
| SEBOX(NM_001080837,SEBOX homeobox,216aa) | g.17:26692206G>A,c.46C>T,p.R16W |
| SEBOX(NM_001080837,SEBOX homeobox,216aa) | g.17:26692142C>T,c.109+1G>A,p.37Donor |
| SEBOX(NM_001080837,SEBOX homeobox,216aa) | g.17:26691321A>G,c.620T>C,p.L207S |
| SDS(NM_006843,serine dehydratase,328aa) | g.12:113837452T>G,c.62A>C,p.K21T |
| SDS(NM_006843,serine dehydratase,328aa) | g.12:113837444C>T,c.70G>A,p.G24S |
| SDS(NM_006843,serine dehydratase,328aa) | g.12:113836604C>T,c.241G>A,p.V81I |
| SDS(NM_006843,serine dehydratase,328aa) | g.12:113836374G>A,c.371C>T,p.A124V |
| SDS(NM_006843,serine dehydratase,328aa) | g.12:113835118C>T,c.505G>A,p.G169S |
| SDS(NM_006843,serine dehydratase,328aa) | g.12:113830947C>A,c.786G>T,p.E262D |
| SDSL(NM_138432,serine dehydratase-like,329aa) | g.12:113875765C>A,c.871C>A,p.L291I |
| SDSL(NM_138432,serine dehydratase-like,329aa) | g.12:113875760G>A,c.866G>A,p.R289Q |
| SDSL(NM_138432,serine dehydratase-like,329aa) | g.12:113875759C>T,c.865C>T,p.R289W |
| SDSL(NM_138432,serine dehydratase-like,329aa) | g.12:113874611C>T,c.727C>T,p.Q243X |
| SDSL(NM_138432,serine dehydratase-like,329aa) | g.12:113874594G>A,c.710G>A,p.R237Q |
| SDSL(NM_138432,serine dehydratase-like,329aa) | g.12:113874590G>A,c.706G>A,p.A236T |
| SDSL(NM_138432,serine dehydratase-like,329aa) | g.12:113871944G>A,c.360G>A,p.W120X |
| SDSL(NM_138432,serine dehydratase-like,329aa) | g.12:113867073G>C,c.323G>C,p.G108A |
| SDSL(NM_138432,serine dehydratase-like,329aa) | g.12:113867072G>C,c.322G>C,p.G108R |
| SDSL(NM_138432,serine dehydratase-like,329aa) | g.12:113866974C>T,c.224C>T,p.A75V |
| SDSL(NM_138432,serine dehydratase-like,329aa) | g.12:113865935C>T,c.148C>T,p.R50W |