| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48575418C>G | CA16604944 | COL7A1 | c.6101G>C (p.Gly2034Ala) n.2018G>C c.6128G>C (p.Gly2043Ala) n.6164G>C n.6137G>C | ClinVar dbSNP |
| 3 | g.48575418C>T | CA352663217 | COL7A1 | c.6101G>A (p.Gly2034Glu) n.2018G>A c.6128G>A (p.Gly2043Glu) n.6164G>A n.6137G>A | dbSNP gnomAD v4 |
| 3 | g.48575418C= | CA1363082789 | COL7A1 | c.6101G= (p.Gly2034=) n.2018G= c.6128G= (p.Gly2043=) n.6164G= n.6137G= | dbSNP |