| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94410501G>T | CA162921173 | COL1A2 | c.1171G>T (p.Gly391Cys) c.1165G>T (p.Gly389Cys) | ClinVar dbSNP |
| 7 | g.94410501G>C | CA368221296 | COL1A2 | c.1171G>C (p.Gly391Arg) c.1165G>C (p.Gly389Arg) | ClinVar dbSNP |
| 7 | g.94410501G>A | CA162921172 | COL1A2 | c.1171G>A (p.Gly391Ser) c.1165G>A (p.Gly389Ser) | ClinVar dbSNP gnomAD v4 |