| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.66436814G>T | CA16602652 | MAP2K1 | c.294G>T (p.Glu98Asp) c.360G>T (p.Glu120Asp) c.291+1577G>T (n.291+1577G>T) n.796G>T n.871G>T | ClinVar dbSNP |
| 15 | g.66436814G>C | CA16602651 | MAP2K1 | c.294G>C (p.Glu98Asp) c.360G>C (p.Glu120Asp) c.291+1577G>C (n.291+1577G>C) n.796G>C n.871G>C | ClinVar dbSNP |
| 15 | g.66436814G>A | CA490856182 | MAP2K1 | c.294G>A (p.Glu98=) c.360G>A (p.Glu120=) c.291+1577G>A (n.291+1577G>A) n.796G>A n.871G>A | dbSNP gnomAD v4 |