| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.78116228C>A | CA340569 | AP3B1 | c.*151G>T (n.*151G>T) c.1975G>T (p.Glu659Ter) c.1828G>T (p.Glu610Ter) c.1174G>T (p.Glu392Ter) c.*1737G>T (n.*1737G>T) c.1918G>T (p.Glu640Ter) c.1969G>T (p.Glu657Ter) n.2133G>T c.1840G>T (p.Glu614Ter) | ClinVar dbSNP |
| 5 | g.78116228C= | CA1557301483 | AP3B1 | c.*151G= (n.*151G=) c.1975G= (p.Glu659=) c.1828G= (p.Glu610=) c.1174G= (p.Glu392=) c.*1737G= (n.*1737G=) c.1918G= (p.Glu640=) c.1969G= (p.Glu657=) n.2133G= c.1840G= (p.Glu614=) | dbSNP |