| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48581588del | CA16042535 | COL7A1 | c.4767del (p.Asp1590ThrfsTer?) n.684del c.4794del (p.Asp1599ThrfsTer?) n.4830del n.4803del | ClinVar dbSNP |
| 3 | g.48581588T= | CA1363078168 | COL7A1 | c.4767A= (p.Gly1589=) n.684A= c.4794A= (p.Gly1598=) n.4830A= n.4803A= | dbSNP |