| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40307478G>A | CA791646 | COL9A2 | c.976C>T (p.Gln326Ter) n.1279C>T c.988C>T (p.Gln330Ter) c.706C>T (p.Gln236Ter) c.433C>T (p.Gln145Ter) c.694C>T (p.Gln232Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40307478G>T | CA791647 | COL9A2 | c.976C>A (p.Gln326Lys) n.1279C>A c.988C>A (p.Gln330Lys) c.706C>A (p.Gln236Lys) c.433C>A (p.Gln145Lys) c.694C>A (p.Gln232Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.40307478G= | CA1140339773 | COL9A2 | c.976C= (p.Gln326=) n.1279C= c.988C= (p.Gln330=) c.706C= (p.Gln236=) c.433C= (p.Gln145=) c.694C= (p.Gln232=) | dbSNP dbSNP |