| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.78141268G>A | CA340566 | AP3B1 | c.1525C>T (p.Arg509Ter) c.1378C>T (p.Arg460Ter) c.1168-25034C>T (n.1168-25034C>T) c.*1291C>T (n.*1291C>T) c.1519C>T (p.Arg507Ter) n.1683C>T c.1390C>T (p.Arg464Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.78141268G= | CA1557336120 | AP3B1 | c.1525C= (p.Arg509=) c.1378C= (p.Arg460=) c.1168-25034C= (n.1168-25034C=) c.*1291C= (n.*1291C=) c.1519C= (p.Arg507=) n.1683C= c.1390C= (p.Arg464=) | dbSNP |