| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50195099C>A | CA257881 | COL1A1 | c.1301G>T (p.Gly434Val) n.245G>T c.957+1215G>T (n.957+1215G>T) c.1103G>T (p.Gly368Val) | ClinVar dbSNP |
| 17 | g.50195099C>G | CA400218611 | COL1A1 | c.1301G>C (p.Gly434Ala) n.245G>C c.957+1215G>C (n.957+1215G>C) c.1103G>C (p.Gly368Ala) | ClinVar dbSNP |