| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50188113C>A | CA257851 | COL1A1 | c.3244G>T (p.Gly1082Cys) n.442G>T n.568G>T c.2974G>T (p.Gly992Cys) c.2326G>T (p.Gly776Cys) c.3046G>T (p.Gly1016Cys) | ClinVar dbSNP |
| 17 | g.50188113C= | CA2263914984 | COL1A1 | c.3244G= (p.Gly1082=) n.442G= n.568G= c.2974G= (p.Gly992=) c.2326G= (p.Gly776=) c.3046G= (p.Gly1016=) | dbSNP |