| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189004312G>T | CA005790 | COL3A1 | c.2780G>T (p.Gly927Val) c.2879G>T (p.Gly960Val) c.2527+1276G>T (n.2527+1276G>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189004312G>A | CA349844559 | COL3A1 | c.2780G>A (p.Gly927Glu) c.2879G>A (p.Gly960Glu) c.2527+1276G>A (n.2527+1276G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189004312G= | CA1315403181 | COL3A1 | c.2780G= (p.Gly927=) c.2879G= (p.Gly960=) c.2527+1276G= (n.2527+1276G=) | dbSNP |