| 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 |
| 7 | g.94408770G= | CA1726749378 | COL1A2 | c.739G= (p.Gly247=) c.733G= (p.Gly245=) | dbSNP |
| 7 | g.94408770G>C | CA368220430 | COL1A2 | c.739G>C (p.Gly247Arg) c.733G>C (p.Gly245Arg) | ClinVar dbSNP gnomAD v4 |