| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47985811G>T | CA479469209 | COL2A1 | c.1390C>A (p.Arg464=) c.1597C>A (p.Arg533=) n.521C>A c.1741C>A (p.Arg581=) c.1738C>A (p.Arg580=) c.685C>A (p.Arg229=) c.1531C>A (p.Arg511=) c.1051C>A (p.Arg351=) | ClinVar dbSNP |
| 12 | g.47985811G>A | CA384551753 | COL2A1 | c.1390C>T (p.Arg464Ter) c.1597C>T (p.Arg533Ter) n.521C>T c.1741C>T (p.Arg581Ter) c.1738C>T (p.Arg580Ter) c.685C>T (p.Arg229Ter) c.1531C>T (p.Arg511Ter) c.1051C>T (p.Arg351Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |