| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.116120284C>T | CA127226 | COL10A1,NT5DC1 | c.529+2339C>T (n.529+2339C>T) c.1832G>A (p.Trp611Ter) c.27+2339C>T | ClinVar dbSNP |
| 6 | g.116120284C>G | CA365386711 | COL10A1,NT5DC1 | c.529+2339C>G (n.529+2339C>G) c.1832G>C (p.Trp611Ser) c.27+2339C>G | dbSNP |