| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48575410C>T | CA16604480 | COL7A1 | c.6109G>A (p.Gly2037Arg) n.2026G>A c.6136G>A (p.Gly2046Arg) n.6172G>A n.6145G>A | ClinVar dbSNP |
| 3 | g.48575410C= | CA1363082785 | COL7A1 | c.6109G= (p.Gly2037=) n.2026G= c.6136G= (p.Gly2046=) n.6172G= n.6145G= | dbSNP |