| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94398387T>C | CA202193 | COL1A2 | c.87T>C (p.Thr29=) c.81T>C (p.Thr27=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.94398387T>A | CA456486181 | COL1A2 | c.87T>A (p.Thr29=) c.81T>A (p.Thr27=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.94398387T= | CA1726789498 | COL1A2 | c.87T= (p.Thr29=) c.81T= (p.Thr27=) | dbSNP |