| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94423065G>A | CA10654759 | COL1A2 | c.2512G>A (p.Gly838Ser) n.595G>A n.909G>A c.2506G>A (p.Gly836Ser) | ClinVar dbSNP |
| 7 | g.94423065G= | CA1726776824 | COL1A2 | c.2512G= (p.Gly838=) n.595G= n.909G= c.2506G= (p.Gly836=) | dbSNP |