| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.56882284A>G | CA3273115 | MAP3K1 | c.3084A>G (p.Gln1028=) c.2706A>G (p.Gln902=) c.2829A>G (p.Gln943=) c.2805A>G (p.Gln935=) c.2673A>G (p.Gln891=) c.2595A>G (p.Gln865=) n.3115A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.56882284A>T | CA359787616 | MAP3K1 | c.3084A>T (p.Gln1028His) c.2706A>T (p.Gln902His) c.2829A>T (p.Gln943His) c.2805A>T (p.Gln935His) c.2673A>T (p.Gln891His) c.2595A>T (p.Gln865His) n.3115A>T | dbSNP |
| 5 | g.56882284A>C | CA359787615 | MAP3K1 | c.3084A>C (p.Gln1028His) c.2706A>C (p.Gln902His) c.2829A>C (p.Gln943His) c.2805A>C (p.Gln935His) c.2673A>C (p.Gln891His) c.2595A>C (p.Gln865His) n.3115A>C | dbSNP |