| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50187491C>T | CA16620471 | COL1A1 | c.3416G>A (p.Gly1139Asp) c.3146G>A (p.Gly1049Asp) c.2498G>A (p.Gly833Asp) c.3218G>A (p.Gly1073Asp) | ClinVar dbSNP |
| 17 | g.50187491C= | CA2263914690 | COL1A1 | c.3416G= (p.Gly1139=) c.3146G= (p.Gly1049=) c.2498G= (p.Gly833=) c.3218G= (p.Gly1073=) | dbSNP |