| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189062882C>T | CA325356 | COL5A2 | c.1960G>A (p.Gly654Ser) n.66G>A c.799G>A (p.Gly267Ser) c.1822G>A (p.Gly608Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189062882C= | CA1315430350 | COL5A2 | c.1960G= (p.Gly654=) n.66G= c.799G= (p.Gly267=) c.1822G= (p.Gly608=) | dbSNP |