Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.48584742C>G | CA127190 | COL7A1 | c.4039G>C (p.Gly1347Arg) c.4066G>C (p.Gly1356Arg) n.4102G>C n.4075G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.48584742C>A | CA2380261 | COL7A1 | c.4039G>T (p.Gly1347Trp) c.4066G>T (p.Gly1356Trp) n.4102G>T n.4075G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.48584742C>T | CA352696563 | COL7A1 | c.4039G>A (p.Gly1347Arg) c.4066G>A (p.Gly1356Arg) n.4102G>A n.4075G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |