| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94427628G>A | CA257803 | COL1A2 | c.3269G>A (p.Gly1090Asp) n.317G>A n.4050G>A c.3263G>A (p.Gly1088Asp) | ClinVar dbSNP COSMIC |
| 7 | g.94427628G= | CA1726785443 | COL1A2 | c.3269G= (p.Gly1090=) n.317G= n.4050G= c.3263G= (p.Gly1088=) | dbSNP |
| 7 | g.94427628G>C | CA368225626 | COL1A2 | c.3269G>C (p.Gly1090Ala) n.317G>C n.4050G>C c.3263G>C (p.Gly1088Ala) | dbSNP gnomAD v4 |