| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189008943G>A | CA006633 | COL3A1 | c.3446G>A (p.Gly1149Glu) c.3545G>A (p.Gly1182Glu) c.2636G>A (p.Gly879Glu) n.642G>A | ClinVar dbSNP |
| 2 | g.189008943G>T | CA006641 | COL3A1 | c.3446G>T (p.Gly1149Val) c.3545G>T (p.Gly1182Val) c.2636G>T (p.Gly879Val) n.642G>T | ClinVar dbSNP |
| 2 | g.189008943G= | CA1315405487 | COL3A1 | c.3446G= (p.Gly1149=) c.3545G= (p.Gly1182=) c.2636G= (p.Gly879=) n.642G= | dbSNP |