| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.50997380G>A | CA351375 | AP4E1 | c.2401G>A (p.Glu801Lys) c.*1525G>A (n.*1525G>A) c.2176G>A (p.Glu726Lys) c.*1445G>A (n.*1445G>A) c.2221G>A (p.Glu741Lys) c.1051G>A (p.Glu351Lys) c.1519G>A (p.Glu507Lys) n.2508G>A n.2384G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50997380G= | CA2176672547 | AP4E1 | c.2401G= (p.Glu801=) c.*1525G= (n.*1525G=) c.2176G= (p.Glu726=) c.*1445G= (n.*1445G=) c.2221G= (p.Glu741=) c.1051G= (p.Glu351=) c.1519G= (p.Glu507=) n.2508G= n.2384G= | dbSNP |