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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
9
g.134801990G>A
CA324249
COL5A1
c.2989G>A (p.Gly997Ser)
n.3391G>A
n.3387G>A
ClinVar
dbSNP
gnomAD v4
9
g.134801990G=
CA1883379725
COL5A1
c.2989G= (p.Gly997=)
n.3391G=
n.3387G=
dbSNP
Number of alleles fetched
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