| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50188122C>T | CA281089 | COL1A1 | c.3235G>A (p.Gly1079Ser) n.433G>A n.559G>A c.2965G>A (p.Gly989Ser) c.2317G>A (p.Gly773Ser) c.3037G>A (p.Gly1013Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50188122C= | CA2263914990 | COL1A1 | c.3235G= (p.Gly1079=) n.433G= n.559G= c.2965G= (p.Gly989=) c.2317G= (p.Gly773=) c.3037G= (p.Gly1013=) | dbSNP |