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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.45998425G>A
CA10070437
COL6A1
n.378G>A
c.1603G>A (p.Gly535Arg)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
21
g.45998425G>C
CA10070436
COL6A1
n.378G>C
c.1603G>C (p.Gly535Arg)
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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