| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.53950804A>G | CA202736 | BMP4 | c.455T>C (p.Val152Ala) c.313T>C (p.Ter105Arg) c.266T>C (p.Val89Ala) c.596T>C (p.Val199Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53950804A= | CA2137817830 | BMP4 | c.455T= (p.Val152=) c.313T= (p.Ter105=) c.266T= (p.Val89=) c.596T= (p.Val199=) | dbSNP |
| 14 | g.53950804A>C | CA389784659 | BMP4 | c.455T>G (p.Val152Gly) c.313T>G (p.Ter105Gly) c.266T>G (p.Val89Gly) c.596T>G (p.Val199Gly) | dbSNP |
| 14 | g.53950804A>T | CA389784660 | BMP4 | c.455T>A (p.Val152Glu) c.313T>A (p.Ter105Arg) c.266T>A (p.Val89Glu) c.596T>A (p.Val199Glu) | dbSNP gnomAD v4 |