| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94417733G>T | CA368222785 | COL1A2 | c.1873G>T (p.Gly625Cys) n.210G>T n.270G>T c.1867G>T (p.Gly623Cys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.94417733G>A | CA260345 | COL1A2 | c.1873G>A (p.Gly625Ser) n.210G>A n.270G>A c.1867G>A (p.Gly623Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.94417733G= | CA1726767437 | COL1A2 | c.1873G= (p.Gly625=) n.210G= n.270G= c.1867G= (p.Gly623=) | dbSNP |