Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188994235G>C | CA16610545 | COL3A1 | c.1097G>C (p.Gly366Ala) c.1196G>C (p.Gly399Ala) c.195G>C | ClinVar dbSNP |
2 | g.188994235G= | CA1315398424 | COL3A1 | c.1097G= (p.Gly366=) c.1196G= (p.Gly399=) c.195G= | dbSNP |