| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.62819980C>T | CA127103 | COL9A3 | c.196C>T (p.Arg66Trp) c.307C>T (p.Arg103Trp) n.303C>T n.353C>T c.36C>T (p.Asn12=) n.308C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.62819980C= | CA2374462519 | COL9A3 | c.196C= (p.Arg66=) c.307C= (p.Arg103=) n.303C= n.353C= c.36C= (p.Asn12=) n.308C= | dbSNP |