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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.237395121G>A
CA222591
COL6A3
c.91+1606C>T (n.91+1606C>T)
n.85+1606C>T
c.175C>T (p.Arg59Ter)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
2
g.237395121G=
CA1337633334
COL6A3
c.91+1606C= (n.91+1606C=)
n.85+1606C=
c.175C= (p.Arg59=)
dbSNP
Number of alleles fetched
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