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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.48575401C>T
CA257935
COL7A1
c.6118G>A (p.Gly2040Ser)
n.2035G>A
c.6145G>A (p.Gly2049Ser)
n.6181G>A
n.6154G>A
ClinVar
dbSNP
gnomAD v4
3
g.48575401C=
CA1363082782
COL7A1
c.6118G= (p.Gly2040=)
n.2035G=
c.6145G= (p.Gly2049=)
n.6181G=
n.6154G=
dbSNP
Number of alleles fetched
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