| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48568098C>A | CA127188 | COL7A1 | c.7867G>T (p.Gly2623Cys) n.690G>T n.4506G>T c.7894G>T (p.Gly2632Cys) c.7834G>T (p.Gly2612Cys) n.7930G>T c.7807G>T (p.Gly2603Cys) n.7903G>T | ClinVar dbSNP |
| 3 | g.48568098C= | CA1363076613 | COL7A1 | c.7867G= (p.Gly2623=) n.690G= n.4506G= c.7894G= (p.Gly2632=) c.7834G= (p.Gly2612=) n.7930G= c.7807G= (p.Gly2603=) n.7903G= | dbSNP |