| 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 |
| 17 | g.80112948C>T | CA401369961 | GAA | c.1961C>T (p.Ser654Leu) c.*99C>T (n.*99C>T) n.401C>T c.380C>T n.575C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.80112948C= | CA2277815484 | GAA | c.1961C= (p.Ser654=) c.*99C= (n.*99C=) n.401C= c.380C= n.575C= | dbSNP |