| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50192528C>T | CA16608529 | COL1A1 | c.1930G>A (p.Gly644Ser) n.279G>A c.1012G>A (p.Gly338Ser) c.1732G>A (p.Gly578Ser) | ClinVar dbSNP |
| 17 | g.50192528C= | CA2263917298 | COL1A1 | c.1930G= (p.Gly644=) n.279G= c.1012G= (p.Gly338=) c.1732G= (p.Gly578=) | dbSNP |