| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48261222T>A | CA117883 | ITM2B | c.84T>A c.799T>A (p.Ter267Arg) n.847T>A n.877T>A n.729T>A c.631T>A (p.Ter211Arg) c.*545T>A (n.*545T>A) c.211T>A c.481T>A (p.Ter161Arg) c.86T>A | ClinVar dbSNP |
| 13 | g.48261222T= | CA2089931365 | ITM2B | c.84T= c.799T= (p.Ter267=) n.847T= n.877T= n.729T= c.631T= (p.Ter211=) c.*545T= (n.*545T=) c.211T= c.481T= (p.Ter161=) c.86T= | dbSNP |