| 3 | g.48581271G>A | CA127199 | COL7A1 | c.4888C>T (p.Arg1630Ter)
n.805C>T
c.4915C>T (p.Arg1639Ter)
n.4951C>T
n.4924C>T
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.48581271G= | CA1363077723 | COL7A1 | c.4888C= (p.Arg1630=)
n.805C=
c.4915C= (p.Arg1639=)
n.4951C=
n.4924C=
| dbSNP |
