| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.188999560G>A | CA005185 | COL3A1 | c.2113G>A (p.Gly705Ser) c.2212G>A (p.Gly738Ser) | ClinVar dbSNP |
| 2 | g.188999560G>T | CA005193 | COL3A1 | c.2113G>T (p.Gly705Cys) c.2212G>T (p.Gly738Cys) | ClinVar dbSNP |
| 2 | g.188999560G= | CA1315401010 | COL3A1 | c.2113G= (p.Gly705=) c.2212G= (p.Gly738=) | dbSNP |
| 2 | g.188999560G>C | CA349840914 | COL3A1 | c.2113G>C (p.Gly705Arg) c.2212G>C (p.Gly738Arg) | ClinVar dbSNP |