| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.47206011A>G | CA340953 | UBA1 | c.1639A>G (p.Ser547Gly) n.465-67A>G c.1657A>G (p.Ser553Gly) c.1723A>G (p.Ser575Gly) c.1681A>G (p.Ser561Gly) n.216-661T>C c.1792A>G (p.Ser598Gly) n.284-661T>C | ClinVar dbSNP |
| X | g.47206011A= | CA2427845509 | UBA1 | c.1639A= (p.Ser547=) n.465-67A= c.1657A= (p.Ser553=) c.1723A= (p.Ser575=) c.1681A= (p.Ser561=) n.216-661T= c.1792A= (p.Ser598=) n.284-661T= | dbSNP |