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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
9
g.134806280G>C
CA321246
COL5A1
c.3350G>C (p.Gly1117Ala)
n.3752G>C
n.3748G>C
ClinVar
dbSNP
gnomAD v4
9
g.134806280G=
CA1883381868
COL5A1
c.3350G= (p.Gly1117=)
n.3752G=
n.3748G=
dbSNP
Number of alleles fetched
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