| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48592915G>A | CA127205 | COL7A1 | c.706C>T (p.Arg236Ter) n.742C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48592915G>C | CA352742655 | COL7A1 | c.706C>G (p.Arg236Gly) n.742C>G | ClinVar dbSNP |
| 3 | g.48592915G= | CA1363087677 | COL7A1 | c.706C= (p.Arg236=) n.742C= | dbSNP dbSNP |