| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.188996479G>C | CA004453 | COL3A1 | c.1645G>C (p.Gly549Arg) c.1744G>C (p.Gly582Arg) | ClinVar dbSNP |
| 2 | g.188996479G>A | CA004446 | COL3A1 | c.1645G>A (p.Gly549Ser) c.1744G>A (p.Gly582Ser) | ClinVar dbSNP |
| 2 | g.188996479G>T | CA349852858 | COL3A1 | c.1645G>T (p.Gly549Cys) c.1744G>T (p.Gly582Cys) | ClinVar dbSNP |