| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80112922C>T | CA8815552 | GAA | c.1935C>T (p.Asp645=) c.*73C>T (n.*73C>T) n.375C>T c.354C>T n.549C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80112922C>A | CA116610 | GAA | c.1935C>A (p.Asp645Glu) c.*73C>A (n.*73C>A) n.375C>A c.354C>A n.549C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112922C= | CA2277815448 | GAA | c.1935C= (p.Asp645=) c.*73C= (n.*73C=) n.375C= c.354C= n.549C= | dbSNP |