| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48581483C>G | CA128521 | COL7A1 | c.4783G>C (p.Gly1595Arg) n.700G>C c.4810G>C (p.Gly1604Arg) n.4846G>C n.4819G>C | ClinVar dbSNP |
| 3 | g.48581483C= | CA1363078001 | COL7A1 | c.4783G= (p.Gly1595=) n.700G= c.4810G= (p.Gly1604=) n.4846G= n.4819G= | dbSNP |