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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.45989100C>T
CA275469
COL6A1
c.821C>T (p.Pro274Leu)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
21
g.45989100C>G
CA410521467
COL6A1
c.821C>G (p.Pro274Arg)
ClinVar
dbSNP
gnomAD v2
gnomAD v4
Number of alleles fetched
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