| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189003732A>C | CA16604274 | COL3A1 | c.2509-2A>C (n.2509-2A>C) c.2608-2A>C (n.2608-2A>C) c.2527+696A>C (n.2527+696A>C) n.43-2A>C | ClinVar dbSNP |
| 2 | g.189003732A= | CA1315402908 | COL3A1 | c.2509-2A= (n.2509-2A=) c.2608-2A= (n.2608-2A=) c.2527+696A= (n.2527+696A=) n.43-2A= | dbSNP |