| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48566281A>T | CA257933 | COL7A1 | c.8393T>A (p.Met2798Lys) n.5032T>A c.8420T>A (p.Met2807Lys) c.8360T>A (p.Met2787Lys) n.8456T>A c.8333T>A (p.Met2778Lys) n.8429T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.48566281A= | CA1363080171 | COL7A1 | c.8393T= (p.Met2798=) n.5032T= c.8420T= (p.Met2807=) c.8360T= (p.Met2787=) n.8456T= c.8333T= (p.Met2778=) n.8429T= | dbSNP |