| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.188996426G>C | CA004438 | COL3A1 | c.1592G>C (p.Gly531Ala) c.1691G>C (p.Gly564Ala) | ClinVar dbSNP |
| 2 | g.188996426G>A | CA349852652 | COL3A1 | c.1592G>A (p.Gly531Asp) c.1691G>A (p.Gly564Asp) | ClinVar dbSNP |
| 2 | g.188996426G= | CA1315399518 | COL3A1 | c.1592G= (p.Gly531=) c.1691G= (p.Gly564=) | dbSNP |