| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94408770G>A | CA368220429 | COL1A2 | c.739G>A (p.Gly247Ser) c.733G>A (p.Gly245Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.94408770G>T | CA16618573 | COL1A2 | c.739G>T (p.Gly247Cys) c.733G>T (p.Gly245Cys) | ClinVar dbSNP |