| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99880678C>A | CA16040832 | AGL | c.1782C>A (p.Tyr594Ter) n.1993C>A c.1734C>A (p.Tyr578Ter) c.1731C>A (p.Tyr577Ter) c.42C>A (p.Tyr14Ter) | ClinVar dbSNP |
| 1 | g.99880678C= | CA1183929027 | AGL | c.1782C= (p.Tyr594=) n.1993C= c.1734C= (p.Tyr578=) c.1731C= (p.Tyr577=) c.42C= (p.Tyr14=) | dbSNP |