| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50188149C>T | CA16043047 | COL1A1 | c.3208G>A (p.Gly1070Ser) n.406G>A n.532G>A c.2938G>A (p.Gly980Ser) c.2290G>A (p.Gly764Ser) c.3010G>A (p.Gly1004Ser) | ClinVar dbSNP |
| 17 | g.50188149C= | CA2263915005 | COL1A1 | c.3208G= (p.Gly1070=) n.406G= n.532G= c.2938G= (p.Gly980=) c.2290G= (p.Gly764=) c.3010G= (p.Gly1004=) | dbSNP |