| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50186425G>C | CA291542851 | COL1A1 | c.3897C>G (p.Cys1299Trp) n.566C>G c.3627C>G (p.Cys1209Trp) c.2979C>G (p.Cys993Trp) c.3699C>G (p.Cys1233Trp) | ClinVar dbSNP |
| 17 | g.50186425G>A | CA260313 | COL1A1 | c.3897C>T (p.Cys1299=) n.566C>T c.3627C>T (p.Cys1209=) c.2979C>T (p.Cys993=) c.3699C>T (p.Cys1233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |