| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.56859851C>T | CA210011 | MAP3K1 | c.770C>T (p.Pro257Leu) c.392C>T (p.Pro131Leu) c.515C>T (p.Pro172Leu) c.359C>T (p.Pro120Leu) c.281C>T (p.Pro94Leu) n.801C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.56859851C>A | CA359802591 | MAP3K1 | c.770C>A (p.Pro257Gln) c.392C>A (p.Pro131Gln) c.515C>A (p.Pro172Gln) c.359C>A (p.Pro120Gln) c.281C>A (p.Pro94Gln) n.801C>A | dbSNP |