Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86923600C>G | CA377463681 | BMPR1A | c.1480C>G (p.Arg494Gly) | ClinVar dbSNP |
10 | g.86923600C>A | CA470308802 | BMPR1A | c.1480C>A (p.Arg494=) | ClinVar dbSNP |
10 | g.86923600C>T | CA186232 | BMPR1A | c.1480C>T (p.Arg494Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
10 | g.86923600C= | CA1925728595 | BMPR1A | c.1480C= (p.Arg494=) | dbSNP |