| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.35434297A>C | CA119577 | GDF5,GDF5-AS1 | c.1118T>G (p.Leu373Arg) c.139A>C (p.Arg47=) n.581A>C | ClinVar dbSNP |
| 20 | g.35434297A= | CA2361649390 | GDF5,GDF5-AS1 | c.1118T= (p.Leu373=) c.139A= (p.Arg47=) n.581A= | dbSNP |
| 20 | g.35434297A>G | CA408739872 | GDF5,GDF5-AS1 | c.1118T>C (p.Leu373Pro) c.139A>G (p.Arg47Gly) n.581A>G | dbSNP gnomAD v4 |