| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80112914G>T | CA294896832 | GAA | c.1927G>T (p.Gly643Trp) c.*65G>T (n.*65G>T) n.367G>T c.346G>T n.541G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112914G>A | CA116596 | GAA | c.1927G>A (p.Gly643Arg) c.*65G>A (n.*65G>A) n.367G>A c.346G>A n.541G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |