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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.50196661C>A
CA281082
COL1A1
c.814G>T (p.Gly272Cys)
n.541G>T
ClinVar
dbSNP
gnomAD v4
17
g.50196661C>T
CA400222668
COL1A1
c.814G>A (p.Gly272Ser)
n.541G>A
ClinVar
dbSNP
Number of alleles fetched
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