| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48582616C>T | CA257942 | COL7A1 | c.4556G>A (p.Gly1519Asp) n.473G>A c.4583G>A (p.Gly1528Asp) n.4619G>A n.4592G>A | ClinVar dbSNP |
| 3 | g.48582616C= | CA1363079540 | COL7A1 | c.4556G= (p.Gly1519=) n.473G= c.4583G= (p.Gly1528=) n.4619G= n.4592G= | dbSNP |