| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189003439G>A | CA16617393 | COL3A1 | c.2483G>A (p.Gly828Asp) c.2582G>A (p.Gly861Asp) c.2527+403G>A (n.2527+403G>A) n.17G>A | ClinVar dbSNP |
| 2 | g.189003439G= | CA1315402783 | COL3A1 | c.2483G= (p.Gly828=) c.2582G= (p.Gly861=) c.2527+403G= (n.2527+403G=) n.17G= | dbSNP |