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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.46126535C>T
CA127109
COL6A2
c.2455C>T (p.Gln819Ter)
n.2532C>T
n.2539C>T
ClinVar
dbSNP
gnomAD v2
gnomAD v4
21
g.46126535C>G
CA410543593
COL6A2
c.2455C>G (p.Gln819Glu)
n.2532C>G
n.2539C>G
dbSNP
Number of alleles fetched
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