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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.188999340G>T
CA349840149
COL3A1
c.1979G>T (p.Gly660Val)
c.2078G>T (p.Gly693Val)
ClinVar
dbSNP
gnomAD v4
2
g.188999340G>C
CA004970
COL3A1
c.1979G>C (p.Gly660Ala)
c.2078G>C (p.Gly693Ala)
ClinVar
dbSNP
Number of alleles fetched
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