| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94425832G>A | CA162939985 | COL1A2 | c.2918G>A (p.Gly973Asp) n.477G>A n.2891G>A c.2912G>A (p.Gly971Asp) | ClinVar dbSNP |
| 7 | g.94425832G>T | CA162939988 | COL1A2 | c.2918G>T (p.Gly973Val) n.477G>T n.2891G>T c.2912G>T (p.Gly971Val) | ClinVar dbSNP |