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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
7
g.94410478C>G
CA368221253
COL1A2
c.1148C>G (p.Pro383Arg)
c.1142C>G (p.Pro381Arg)
dbSNP
gnomAD v2
7
g.94410478C>A
CA260334
COL1A2
c.1148C>A (p.Pro383His)
c.1142C>A (p.Pro381His)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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