| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94423102G>C | CA368224141 | COL1A2 | c.2549G>C (p.Gly850Ala) n.632G>C n.946G>C c.2543G>C (p.Gly848Ala) | dbSNP gnomAD v4 |
| 7 | g.94423102G>A | CA16043430 | COL1A2 | c.2549G>A (p.Gly850Glu) n.632G>A n.946G>A c.2543G>A (p.Gly848Glu) | ClinVar dbSNP |
| 7 | g.94423102G= | CA1726776973 | COL1A2 | c.2549G= (p.Gly850=) n.632G= n.946G= c.2543G= (p.Gly848=) | dbSNP |