| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.35434276C>T | CA130835 | GDF5,GDF5-AS1 | c.1139G>A (p.Arg380Gln) c.118C>T (p.Arg40Cys) n.560C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.35434276C= | CA2361649378 | GDF5,GDF5-AS1 | c.1139G= (p.Arg380=) c.118C= (p.Arg40=) n.560C= | dbSNP |
| 20 | g.35434276C>G | CA408739649 | GDF5,GDF5-AS1 | c.1139G>C (p.Arg380Pro) c.118C>G (p.Arg40Gly) n.560C>G | dbSNP gnomAD v4 |