| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.66481818T>A | CA16602653 | MAP2K1 | c.566T>A (p.Val189Asp) c.632T>A (p.Val211Asp) c.485T>A (p.Val162Asp) c.569-5410T>A (n.569-5410T>A) n.990T>A c.683T>A (p.Val228Asp) c.569-3176T>A (n.569-3176T>A) c.488T>A (p.Val163Asp) c.104T>A (p.Val35Asp) c.554T>A (p.Val185Asp) | ClinVar dbSNP |
| 15 | g.66481818T>C | CA392936316 | MAP2K1 | c.566T>C (p.Val189Ala) c.632T>C (p.Val211Ala) c.485T>C (p.Val162Ala) c.569-5410T>C (n.569-5410T>C) n.990T>C c.683T>C (p.Val228Ala) c.569-3176T>C (n.569-3176T>C) c.488T>C (p.Val163Ala) c.104T>C (p.Val35Ala) c.554T>C (p.Val185Ala) | dbSNP |
| 15 | g.66481818T>G | CA392936317 | MAP2K1 | c.566T>G (p.Val189Gly) c.632T>G (p.Val211Gly) c.485T>G (p.Val162Gly) c.569-5410T>G (n.569-5410T>G) n.990T>G c.683T>G (p.Val228Gly) c.569-3176T>G (n.569-3176T>G) c.488T>G (p.Val163Gly) c.104T>G (p.Val35Gly) c.554T>G (p.Val185Gly) | dbSNP |