| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50194419C>G | CA260275 | COL1A1 | c.1544G>C (p.Gly515Ala) n.488G>C c.958-1726G>C (n.958-1726G>C) c.1346G>C (p.Gly449Ala) | ClinVar dbSNP |
| 17 | g.50194419C= | CA2263918176 | COL1A1 | c.1544G= (p.Gly515=) n.488G= c.958-1726G= (n.958-1726G=) c.1346G= (p.Gly449=) | dbSNP |