| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50191390C>A | CA257893 | COL1A1 | c.2228G>T (p.Gly743Val) n.577G>T c.1310G>T (p.Gly437Val) c.2030G>T (p.Gly677Val) | ClinVar dbSNP |
| 17 | g.50191390C= | CA2263916622 | COL1A1 | c.2228G= (p.Gly743=) n.577G= c.1310G= (p.Gly437=) c.2030G= (p.Gly677=) | dbSNP |