| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189005414G>T | CA349844797 | COL3A1 | c.2897G>T (p.Gly966Val) c.2996G>T (p.Gly999Val) c.2527+2378G>T (n.2527+2378G>T) | ClinVar dbSNP |
| 2 | g.189005414G>A | CA349844796 | COL3A1 | c.2897G>A (p.Gly966Asp) c.2996G>A (p.Gly999Asp) c.2527+2378G>A (n.2527+2378G>A) | ClinVar dbSNP |
| 2 | g.189005414G= | CA1315403670 | COL3A1 | c.2897G= (p.Gly966=) c.2996G= (p.Gly999=) c.2527+2378G= (n.2527+2378G=) | dbSNP |