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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.46132019C>T
CA042716
COL6A2
c.2527C>T (p.Arg843Trp)
n.2604C>T
n.2611C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
21
g.46132019C=
CA2392512524
COL6A2
c.2527C= (p.Arg843=)
n.2604C=
n.2611C=
dbSNP
Number of alleles fetched
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