| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189010695T>G | CA076434 | COL3A1 | c.3960T>G (p.His1320Gln) c.4059T>G (p.His1353Gln) c.3150T>G (p.His1050Gln) n.1438T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189010695T= | CA006791 | COL3A1 | c.3960T= (p.His1320=) c.4059T= (p.His1353=) c.3150T= (p.His1050=) n.1438T= | dbSNP |