| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48566686C>T | CA16621527 | COL7A1 | c.8278G>A (p.Gly2760Arg) n.678G>A n.4917G>A c.8305G>A (p.Gly2769Arg) c.8245G>A (p.Gly2749Arg) n.8341G>A c.8218G>A (p.Gly2740Arg) n.8314G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.48566686C= | CA1363080748 | COL7A1 | c.8278G= (p.Gly2760=) n.678G= n.4917G= c.8305G= (p.Gly2769=) c.8245G= (p.Gly2749=) n.8341G= c.8218G= (p.Gly2740=) n.8314G= | dbSNP |