| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189010187G>A | CA16610602 | COL3A1 | c.3734G>A (p.Trp1245Ter) c.3833G>A (p.Trp1278Ter) c.2924G>A (p.Trp975Ter) n.930G>A | ClinVar dbSNP |
| 2 | g.189010187G= | CA1315406074 | COL3A1 | c.3734G= (p.Trp1245=) c.3833G= (p.Trp1278=) c.2924G= (p.Trp975=) n.930G= | dbSNP |