| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48581129C>T | CA16604481 | COL7A1 | c.4928G>A (p.Gly1643Asp) n.845G>A c.4955G>A (p.Gly1652Asp) n.4991G>A n.4964G>A | ClinVar dbSNP |
| 3 | g.48581129C= | CA1363077488 | COL7A1 | c.4928G= (p.Gly1643=) n.845G= c.4955G= (p.Gly1652=) n.4991G= n.4964G= | dbSNP |