| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94409367G>A | CA260386 | COL1A2 | c.838G>A (p.Gly280Ser) c.832G>A (p.Gly278Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.94409367G>T | CA368220623 | COL1A2 | c.838G>T (p.Gly280Cys) c.832G>T (p.Gly278Cys) | ClinVar dbSNP |
| 7 | g.94409367G= | CA1726750753 | COL1A2 | c.838G= (p.Gly280=) c.832G= (p.Gly278=) | dbSNP |