| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50187094C>T | CA400198911 | COL1A1 | c.3452G>A (p.Gly1151Asp) n.29G>A c.3182G>A (p.Gly1061Asp) c.2534G>A (p.Gly845Asp) c.3254G>A (p.Gly1085Asp) | dbSNP gnomAD v2 |
| 17 | g.50187094C>A | CA257878 | COL1A1 | c.3452G>T (p.Gly1151Val) n.29G>T c.3182G>T (p.Gly1061Val) c.2534G>T (p.Gly845Val) c.3254G>T (p.Gly1085Val) | ClinVar dbSNP |