| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189003067G>T | CA005487 | COL3A1 | c.2454+5G>T (n.2454+5G>T) c.2553+5G>T (n.2553+5G>T) c.2527+31G>T (n.2527+31G>T) | ClinVar dbSNP |
| 2 | g.189003067G= | CA1315402569 | COL3A1 | c.2454+5G= (n.2454+5G=) c.2553+5G= (n.2553+5G=) c.2527+31G= (n.2527+31G=) | dbSNP |