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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
9
g.134812641G>A
CA281492
COL5A1
c.3781G>A (p.Gly1261Arg)
n.4183G>A
n.4179G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
9
g.134812641G=
CA1883385026
COL5A1
c.3781G= (p.Gly1261=)
n.4183G=
n.4179G=
dbSNP
Number of alleles fetched
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