| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94425805G>T | CA368224833 | COL1A2 | c.2891G>T (p.Gly964Val) n.450G>T n.2864G>T c.2885G>T (p.Gly962Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.94425805G>A | CA368224831 | COL1A2 | c.2891G>A (p.Gly964Asp) n.450G>A n.2864G>A c.2885G>A (p.Gly962Asp) | ClinVar dbSNP gnomAD v2 |
| 7 | g.94425805G= | CA1726782006 | COL1A2 | c.2891G= (p.Gly964=) n.450G= n.2864G= c.2885G= (p.Gly962=) | dbSNP |