| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80112948C>G | CA401369960 | GAA | c.1961C>G (p.Ser654Ter) c.*99C>G (n.*99C>G) n.401C>G c.380C>G n.575C>G | ClinVar dbSNP |
| 17 | g.80112948C>A | CA16043014 | GAA | c.1961C>A (p.Ser654Ter) c.*99C>A (n.*99C>A) n.401C>A c.380C>A n.575C>A | ClinVar dbSNP |