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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
7
g.94426459G>C
CA257745
COL1A2
c.3034G>C (p.Gly1012Arg)
n.593G>C
n.3007G>C
c.3028G>C (p.Gly1010Arg)
ClinVar
dbSNP
7
g.94426459G>A
CA277502
COL1A2
c.3034G>A (p.Gly1012Ser)
n.593G>A
n.3007G>A
c.3028G>A (p.Gly1010Ser)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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