| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.35434282C>T | CA119579 | GDF5,GDF5-AS1 | c.1133G>A (p.Arg378Gln) c.124C>T (p.Arg42Cys) n.566C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.35434282C>A | CA408739719 | GDF5,GDF5-AS1 | c.1133G>T (p.Arg378Leu) c.124C>A (p.Arg42Ser) n.566C>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.35434282C= | CA2361649382 | GDF5,GDF5-AS1 | c.1133G= (p.Arg378=) c.124C= (p.Arg42=) n.566C= | dbSNP |