| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.188995065G>T | CA004326 | COL3A1 | c.1376G>T (p.Gly459Val) c.1475G>T (p.Gly492Val) | ClinVar dbSNP |
| 2 | g.188995065G>A | CA004319 | COL3A1 | c.1376G>A (p.Gly459Glu) c.1475G>A (p.Gly492Glu) | ClinVar dbSNP |
| 2 | g.188995065G= | CA1315398827 | COL3A1 | c.1376G= (p.Gly459=) c.1475G= (p.Gly492=) | dbSNP |