| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.88859008T>A | CA492287681 | ACAN | c.6423T>A (p.Leu2141=) c.6366T>A (p.Leu2122=) | dbSNP |
| 15 | g.88859008T>C | CA7720399 | ACAN | c.6423T>C (p.Leu2141=) c.6366T>C (p.Leu2122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88859008T= | CA2194343620 | ACAN | c.6423T= (p.Leu2141=) c.6366T= (p.Leu2122=) | dbSNP |