| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.62819953C>T | CA9949130 | COL9A3 | c.169C>T (p.Pro57Ser) c.280C>T (p.Pro94Ser) n.276C>T n.326C>T c.9C>T (p.Pro3=) n.281C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.62819953C= | CA2374462506 | COL9A3 | c.169C= (p.Pro57=) c.280C= (p.Pro94=) n.276C= n.326C= c.9C= (p.Pro3=) n.281C= | dbSNP |