| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48566719C>A | CA2378104 | COL7A1 | c.8245G>T (p.Gly2749Ter) n.645G>T n.4884G>T c.8272G>T (p.Gly2758Ter) c.8212G>T (p.Gly2738Ter) n.8308G>T c.8185G>T (p.Gly2729Ter) n.8281G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48566719C>T | CA257965 | COL7A1 | c.8245G>A (p.Gly2749Arg) n.645G>A n.4884G>A c.8272G>A (p.Gly2758Arg) c.8212G>A (p.Gly2738Arg) n.8308G>A c.8185G>A (p.Gly2729Arg) n.8281G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |