| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.66436866G>C | CA392930926 | MAP2K1 | c.346G>C (p.Glu116Gln) c.412G>C (p.Glu138Gln) c.291+1629G>C (n.291+1629G>C) n.848G>C n.923G>C | dbSNP |
| 15 | g.66436866G>A | CA296115 | MAP2K1 | c.346G>A (p.Glu116Lys) c.412G>A (p.Glu138Lys) c.291+1629G>A (n.291+1629G>A) n.848G>A n.923G>A | ClinVar dbSNP gnomAD v4 |