| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237371893del | CA10604256 | COL6A3 | c.3506del (p.Gln1169ArgfsTer5) c.4124del (p.Gln1375ArgfsTer5) c.2303del (p.Gln768ArgfsTer5) c.2903del (p.Gln968ArgfsTer5) c.3524del (p.Gln1175ArgfsTer5) c.1718del (p.Gln573ArgfsTer5) | ClinVar dbSNP |
| 2 | g.237371893T= | CA1337623209 | COL6A3 | c.3506A= (p.Gln1169=) c.4124A= (p.Gln1375=) c.2303A= (p.Gln768=) c.2903A= (p.Gln968=) c.3524A= (p.Gln1175=) c.1718A= (p.Gln573=) | dbSNP dbSNP |