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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.189104271C>T
CA322960
COL5A2
c.329G>A (p.Gly110Glu)
c.191G>A (p.Gly64Glu)
c.-302G>A (n.-302G>A)
ClinVar
dbSNP
gnomAD v4
2
g.189104271C=
CA1315448197
COL5A2
c.329G= (p.Gly110=)
c.191G= (p.Gly64=)
c.-302G= (n.-302G=)
dbSNP
Number of alleles fetched
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