| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48581758C>T | CA16604947 | COL7A1 | c.4670G>A (p.Gly1557Glu) n.587G>A c.4697G>A (p.Gly1566Glu) n.4733G>A n.4706G>A | ClinVar dbSNP |
| 3 | g.48581758C= | CA1363078407 | COL7A1 | c.4670G= (p.Gly1557=) n.587G= c.4697G= (p.Gly1566=) n.4733G= n.4706G= | dbSNP |