| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94410466G>A | CA368221227 | COL1A2 | c.1136G>A (p.Gly379Glu) c.1130G>A (p.Gly377Glu) | ClinVar dbSNP |
| 7 | g.94410466G>C | CA257797 | COL1A2 | c.1136G>C (p.Gly379Ala) c.1130G>C (p.Gly377Ala) | ClinVar dbSNP |
| 7 | g.94410466G= | CA1726753353 | COL1A2 | c.1136G= (p.Gly379=) c.1130G= (p.Gly377=) | dbSNP |