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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.50190008C>T
CA257824
COL1A1
c.2552G>A (p.Gly851Asp)
c.1634G>A (p.Gly545Asp)
c.2354G>A (p.Gly785Asp)
ClinVar
dbSNP
17
g.50190008C>G
CA400207493
COL1A1
c.2552G>C (p.Gly851Ala)
c.1634G>C (p.Gly545Ala)
c.2354G>C (p.Gly785Ala)
ClinVar
dbSNP
Number of alleles fetched
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