| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48575428C>T | CA257946 | COL7A1 | c.6091G>A (p.Gly2031Ser) n.2008G>A c.6118G>A (p.Gly2040Ser) n.6154G>A n.6127G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48575428C= | CA1363082795 | COL7A1 | c.6091G= (p.Gly2031=) n.2008G= c.6118G= (p.Gly2040=) n.6154G= n.6127G= | dbSNP |