| 3 | g.48586607C>T | CA2380554 | COL7A1 | c.3359G>A (p.Arg1120Lys)
c.3386G>A (p.Arg1129Lys)
n.3422G>A
n.3395G>A
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48586607C= | CA1363087653 | COL7A1 | c.3359G= (p.Arg1120=)
c.3386G= (p.Arg1129=)
n.3422G=
n.3395G=
| dbSNP |
