| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.70281033G>A | CA341439 | COL9A1 | c.154C>T (p.Arg52Ter) n.225C>T c.883C>T (p.Arg295Ter) c.334C>T (p.Arg112Ter) n.299C>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.70281033G>T | CA450719391 | COL9A1 | c.154C>A (p.Arg52=) n.225C>A c.883C>A (p.Arg295=) c.334C>A (p.Arg112=) n.299C>A | dbSNP gnomAD v4 |