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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.45989750A>G
CA16043819
COL6A1
c.904-2A>G (n.904-2A>G)
ClinVar
dbSNP
21
g.45989750A=
CA2392433684
COL6A1
c.904-2A= (n.904-2A=)
dbSNP
Number of alleles fetched
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