| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189010708C>T | CA006806 | COL3A1 | c.3973C>T (p.Arg1325Ter) c.4072C>T (p.Arg1358Ter) c.3163C>T (p.Arg1055Ter) n.1451C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 2 | g.189010708C>A | CA430442238 | COL3A1 | c.3973C>A (p.Arg1325=) c.4072C>A (p.Arg1358=) c.3163C>A (p.Arg1055=) n.1451C>A | dbSNP |