| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50188555C>G | CA400200719 | COL1A1 | c.3182G>C (p.Gly1061Ala) n.126G>C c.2912G>C (p.Gly971Ala) c.2264G>C (p.Gly755Ala) c.2984G>C (p.Gly995Ala) | ClinVar dbSNP |
| 17 | g.50188555C>T | CA257848 | COL1A1 | c.3182G>A (p.Gly1061Asp) n.126G>A c.2912G>A (p.Gly971Asp) c.2264G>A (p.Gly755Asp) c.2984G>A (p.Gly995Asp) | ClinVar dbSNP |