Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.48584742C>GCA127190COL7A1c.4039G>C (p.Gly1347Arg)
c.4066G>C (p.Gly1356Arg)
n.4102G>C
n.4075G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.48584742C>ACA2380261COL7A1c.4039G>T (p.Gly1347Trp)
c.4066G>T (p.Gly1356Trp)
n.4102G>T
n.4075G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.48584742C>TCA352696563COL7A1c.4039G>A (p.Gly1347Arg)
c.4066G>A (p.Gly1356Arg)
n.4102G>A
n.4075G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched