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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.46132000C>A
CA295302
COL6A2
c.2508C>A (p.Phe836Leu)
n.2585C>A
n.2592C>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
21
g.46132000C=
CA2392512511
COL6A2
c.2508C= (p.Phe836=)
n.2585C=
n.2592C=
dbSNP
Number of alleles fetched
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