Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.53950399C>T | CA127331 | BMP4 | c.860G>A (p.Arg287His) c.671G>A (p.Arg224His) c.1001G>A (p.Arg334His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53950399C>A | CA389783812 | BMP4 | c.860G>T (p.Arg287Leu) c.671G>T (p.Arg224Leu) c.1001G>T (p.Arg334Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |