| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.46534448C>T | CA402375914 | LOXHD1 | c.766G>A (p.Glu256Lys) c.478G>A (p.Glu160Lys) c.4099G>A (p.Glu1367Lys) n.3412G>A c.3481G>A (p.Glu1161Lys) c.805G>A (p.Glu269Lys) c.898G>A (p.Glu300Lys) c.2260G>A (p.Glu754Lys) c.763G>A (p.Glu255Lys) c.2581G>A (p.Glu861Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.46534448C>A | CA273164 | LOXHD1 | c.766G>T (p.Glu256Ter) c.478G>T (p.Glu160Ter) c.4099G>T (p.Glu1367Ter) n.3412G>T c.3481G>T (p.Glu1161Ter) c.805G>T (p.Glu269Ter) c.898G>T (p.Glu300Ter) c.2260G>T (p.Glu754Ter) c.763G>T (p.Glu255Ter) c.2581G>T (p.Glu861Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |