| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48575125C>A | CA127202 | COL7A1 | c.6218G>T (p.Gly2073Val) n.2135G>T c.6245G>T (p.Gly2082Val) n.6281G>T n.6219G>T n.6254G>T n.6192G>T | ClinVar dbSNP |
| 3 | g.48575125C>G | CA352662433 | COL7A1 | c.6218G>C (p.Gly2073Ala) n.2135G>C c.6245G>C (p.Gly2082Ala) n.6281G>C n.6219G>C n.6254G>C n.6192G>C | dbSNP |