| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.47205989G>A | CA412801274 | UBA1 | c.1617G>A (p.Met539Ile) n.465-89G>A c.1635G>A (p.Met545Ile) c.1701G>A (p.Met567Ile) c.1659G>A (p.Met553Ile) n.216-639C>T c.1770G>A (p.Met590Ile) n.284-639C>T | ClinVar dbSNP |
| X | g.47205989G>T | CA340951 | UBA1 | c.1617G>T (p.Met539Ile) n.465-89G>T c.1635G>T (p.Met545Ile) c.1701G>T (p.Met567Ile) c.1659G>T (p.Met553Ile) n.216-639C>A c.1770G>T (p.Met590Ile) n.284-639C>A | ClinVar dbSNP COSMIC |