| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50188134C>A | CA400200225 | COL1A1 | c.3223G>T (p.Ala1075Ser) n.421G>T n.547G>T c.2953G>T (p.Ala985Ser) c.2305G>T (p.Ala769Ser) c.3025G>T (p.Ala1009Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50188134C>T | CA16607365 | COL1A1 | c.3223G>A (p.Ala1075Thr) n.421G>A n.547G>A c.2953G>A (p.Ala985Thr) c.2305G>A (p.Ala769Thr) c.3025G>A (p.Ala1009Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |