| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.35434102C>T | CA408738444 | GDF5,GDF5-AS1 | c.1313G>A (p.Arg438His) c.-57C>T (n.-57C>T) n.386C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.35434102C>A | CA119569 | GDF5,GDF5-AS1 | c.1313G>T (p.Arg438Leu) c.-57C>A (n.-57C>A) n.386C>A | ClinVar dbSNP |
| 20 | g.35434102C= | CA2361649300 | GDF5,GDF5-AS1 | c.1313G= (p.Arg438=) c.-57C= (n.-57C=) n.386C= | dbSNP |