| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.188988590G>A | CA62588603 | COL3A1 | c.583G>A (p.Gly195Arg) | ClinVar dbSNP |
| 2 | g.188988590G>C | CA007089 | COL3A1 | c.583G>C (p.Gly195Arg) | ClinVar dbSNP |
| 2 | g.188988590G= | CA1315395793 | COL3A1 | c.583G= (p.Gly195=) | dbSNP |