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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.50196542A>C
CA8645512
COL1A1
c.859-14T>G (n.859-14T>G)
n.54T>G
n.586-14T>G
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
17
g.50196542A=
CA2263919307
COL1A1
c.859-14T= (n.859-14T=)
n.54T=
n.586-14T=
dbSNP
Number of alleles fetched
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