| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48592613G>C | CA352739774 | COL7A1 | c.933C>G (p.Tyr311Ter) n.969C>G | ClinVar dbSNP |
| 3 | g.48592613G>A | CA2381399 | COL7A1 | c.933C>T (p.Tyr311=) n.969C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.48592613G>T | CA257937 | COL7A1 | c.933C>A (p.Tyr311Ter) n.969C>A | ClinVar dbSNP |